From fb30df274471fabc3e9b982e2b315892e1aae181 Mon Sep 17 00:00:00 2001 From: Nico Matentzoglu Date: Fri, 26 Jan 2024 11:40:23 +0200 Subject: [PATCH 1/9] Update makefile to fail when DB files are not created Previously, the pipeline did not fail when `UST_BACKTRACE=full semsql make $*.db -P config/prefixes.csv` failed --- src/ontology/mondo-ingest.Makefile | 8 ++++++-- src/scripts/sync_subclassof.py | 2 +- 2 files changed, 7 insertions(+), 3 deletions(-) diff --git a/src/ontology/mondo-ingest.Makefile b/src/ontology/mondo-ingest.Makefile index cee1daf8..3a5dc889 100644 --- a/src/ontology/mondo-ingest.Makefile +++ b/src/ontology/mondo-ingest.Makefile @@ -32,6 +32,7 @@ dependencies: ### General ######################## #################################### %.db: %.owl + @rm $*.db @rm -f .template.db @rm -f .template.db.tmp @rm -f $*-relation-graph.tsv.gz @@ -39,6 +40,8 @@ dependencies: @rm -f .template.db @rm -f .template.db.tmp @rm -f $*-relation-graph.tsv.gz + @test -f $*.db || (echo "Error: File not found!" && exit 1) + .PRECIOUS: %.db #################################### @@ -342,8 +345,9 @@ documentation: j2 $(ALL_DOCS) unmapped-terms-docs mapped-deprecated-terms-docs s build-mondo-ingest: $(MAKE) refresh-imports exclusions-all slurp-all mappings matches \ mapped-deprecated-terms mapping-progress-report \ - recreate-unmapped-components documentation + recreate-unmapped-components sync documentation $(MAKE) prepare_release + echo "Mondo Ingest has been fully completed" .PHONY: build-mondo-ingest-no-imports build-mondo-ingest-no-imports: @@ -515,7 +519,7 @@ sync-subclassof-%: $(MAKE) $(REPORTDIR)/$*.subclass.direct-in-mondo-only.tsv # Side effects: Deletes SOURCE.subclass.direct-in-mondo-only.tsv's from which the combination is made. -$(REPORTDIR)/sync-subClassOf.direct-in-mondo-only.tsv: $(foreach n,$(ALL_COMPONENT_IDS), sync-subclassof-$(n)) +$(REPORTDIR)/sync-subClassOf.direct-in-mondo-only.tsv: $(foreach n,$(ALL_COMPONENT_IDS), sync-subclassof-$(n)) tmp/mondo.db python3 $(SCRIPTSDIR)/sync_subclassof_collate_direct_in_mondo_only.py --outpath $@ $(REPORTDIR)/sync-subClassOf.confirmed.tsv: $(foreach n,$(ALL_COMPONENT_IDS), $(REPORTDIR)/$(n).subclass.confirmed.robot.tsv) diff --git a/src/scripts/sync_subclassof.py b/src/scripts/sync_subclassof.py index acee794b..e1b54aad 100644 --- a/src/scripts/sync_subclassof.py +++ b/src/scripts/sync_subclassof.py @@ -378,7 +378,7 @@ def sync_subclassof( # Case 3: SCR is direct in the source, but not at all in Mondo subheader = deepcopy(ROBOT_SUBHEADER) - subheader[0]['object_mondo_id'] = 'AI obo:mondo#:excluded_subClassOf' + subheader[0]['object_mondo_id'] = 'AI obo:mondo#excluded_subClassOf' df3 = pd.DataFrame(in_source_direct_not_in_mondo) if len(df3) == 0: df3 = pd.DataFrame(columns=list(subheader[0].keys())) From d74bb3ae33d67e0878dfde2257c83ecb2442cb36 Mon Sep 17 00:00:00 2001 From: Nico Matentzoglu Date: Fri, 26 Jan 2024 13:40:21 +0200 Subject: [PATCH 2/9] OMIM works --- .gitignore | 3 + .../omim.subclass.added-obsolete.robot.tsv | 8 +- .../reports/omim.subclass.added.robot.tsv | 32 +- .../reports/omim.subclass.confirmed.robot.tsv | 298 ++---------------- src/scripts/sync_subclassof.py | 2 +- 5 files changed, 29 insertions(+), 314 deletions(-) diff --git a/.gitignore b/.gitignore index 99cafecf..ee6c2728 100644 --- a/.gitignore +++ b/.gitignore @@ -110,3 +110,6 @@ src/scripts/mondo_unmapped.tsv # Test tests/output/ src/scripts/dataframes/* +src/ontology/reports/gard.subclass.added-obsolete.robot.tsv +src/ontology/reports/gard.subclass.added.robot.tsv +src/ontology/reports/gard.subclass.confirmed.robot.tsv diff --git a/src/ontology/reports/omim.subclass.added-obsolete.robot.tsv b/src/ontology/reports/omim.subclass.added-obsolete.robot.tsv index 1bae017a..ad7b8dde 100644 --- a/src/ontology/reports/omim.subclass.added-obsolete.robot.tsv +++ b/src/ontology/reports/omim.subclass.added-obsolete.robot.tsv @@ -1,11 +1,13 @@ subject_mondo_id subject_mondo_label object_mondo_id subject_source_id object_source_id object_mondo_label -ID AI MONDO:excluded_subClassOf >A oboInOwl:source +ID AI obo:mondo#excluded_subClassOf >A oboInOwl:source MONDO:0009827 obsolete pachyonychia congenita, autosomal recessive MONDO:0016471 OMIM:260130 OMIMPS:167200 pachyonychia congenita +MONDO:0010859 obsolete atrioventricular septal defect 3 MONDO:0020290 OMIM:600309 OMIMPS:606215 familial atrioventricular septal defect MONDO:0014709 obsolete Heimler syndrome 2 MONDO:0019234 OMIM:616617 OMIMPS:214100 peroxisome biogenesis disorder MONDO:0014755 skin creases, congenital symmetric circumferential, 2 MONDO:0000204 OMIM:616734 OMIMPS:156610 obsolete skin creases, congenital symmetric circumferential -MONDO:0014783 obsolete preimplantation embryonic lethality 1 MONDO:0014769 OMIM:616814 OMIMPS:615774 inherited oocyte maturation defect +MONDO:0014783 obsolete preimplantation embryonic lethality 1 MONDO:0000218 OMIM:616814 OMIMPS:616814 obsolete preimplantation embryonic lethality MONDO:0014826 obsolete nucleoside diphosphate-linked moiety X Motif 15 deficiency MONDO:0000210 OMIM:616903 OMIMPS:610460 thiopurine metabolic disease -MONDO:0014978 obsolete preimplantation embryonic lethality 2 MONDO:0014769 OMIM:617234 OMIMPS:615774 inherited oocyte maturation defect +MONDO:0014978 obsolete preimplantation embryonic lethality 2 MONDO:0000218 OMIM:617234 OMIMPS:616814 obsolete preimplantation embryonic lethality +MONDO:0018138 obsolete ocular albinism with congenital sensorineural hearing loss MONDO:0018094 OMIM:103470 OMIMPS:193500 Waardenburg syndrome MONDO:0018264 oculocutaneous albinism type 6 MONDO:0033196 OMIM:113750 OMIMPS:227220 obsolete skin/hair/eye pigmentation, variation in MONDO:0020738 multiple benign circumferential skin creases on limbs 1 MONDO:0000204 OMIM:156610 OMIMPS:156610 obsolete skin creases, congenital symmetric circumferential MONDO:0020784 obsolete short sleep, familial natural, 1 MONDO:0044278 OMIM:612975 OMIMPS:612975 obsolete short sleeper diff --git a/src/ontology/reports/omim.subclass.added.robot.tsv b/src/ontology/reports/omim.subclass.added.robot.tsv index 47c77e5b..c7f71db9 100644 --- a/src/ontology/reports/omim.subclass.added.robot.tsv +++ b/src/ontology/reports/omim.subclass.added.robot.tsv @@ -1,38 +1,30 @@ subject_mondo_id subject_mondo_label object_mondo_id subject_source_id object_source_id object_mondo_label -ID AI MONDO:excluded_subClassOf >A oboInOwl:source +ID AI obo:mondo#excluded_subClassOf >A oboInOwl:source MONDO:0005260 autism MONDO:0020836 OMIM:209850 OMIMPS:209850 autism, susceptiblity to MONDO:0005579 epilepsy, idiopathic generalized MONDO:0005579 OMIM:600669 OMIMPS:600669 epilepsy, idiopathic generalized -MONDO:0007039 neurofibromatosis type 2 MONDO:0008075 OMIM:101000 OMIMPS:162091 schwannomatosis MONDO:0007617 Coffin-Siris syndrome 1 MONDO:0100172 OMIM:135900 OMIMPS:156200 intellectual disability, autosomal dominant MONDO:0007634 intellectual disability, FRA12A type MONDO:0100172 OMIM:136630 OMIMPS:156200 intellectual disability, autosomal dominant MONDO:0007669 renal cysts and diabetes syndrome MONDO:0000608 OMIM:137920 OMIMPS:162000 familial juvenile hyperuricemic nephropathy MONDO:0007723 Hirschsprung disease, susceptibility to, 1 MONDO:0018309 OMIM:142623 OMIMPS:142623 Hirschsprung disease MONDO:0007934 benign concentric annular macular dystrophy MONDO:0019200 OMIM:153870 OMIMPS:268000 retinitis pigmentosa -MONDO:0007963 melanoma, cutaneous malignant, susceptibility to, 1 MONDO:0024462 OMIM:155600 OMIMPS:155600 familial cutaneous melanoma -MONDO:0007964 melanoma, cutaneous malignant, susceptibility to, 2 MONDO:0024462 OMIM:155601 OMIMPS:155600 familial cutaneous melanoma MONDO:0008072 IgA nephropathy, susceptibility to, 1 MONDO:0005342 OMIM:161950 OMIMPS:161950 IgA glomerulonephritis MONDO:0008334 psoriasis 1, susceptibility to MONDO:0005083 OMIM:177900 OMIMPS:177900 psoriasis MONDO:0008570 thyrotoxic periodic paralysis, susceptibility to, 1 MONDO:0019201 OMIM:188580 OMIMPS:188580 thyrotoxic periodic paralysis -MONDO:0008654 nystagmus 4, congenital, autosomal dominant MONDO:0020380 OMIM:193003 OMIMPS:164400 autosomal dominant cerebellar ataxia MONDO:0008708 acrocallosal syndrome MONDO:0018772 OMIM:200990 OMIMPS:213300 Joubert syndrome MONDO:0008856 immunodeficiency 27A MONDO:0021094 OMIM:209950 OMIMPS:300755 immunodeficiency disease MONDO:0008905 predisposition to invasive fungal disease due to CARD9 deficiency MONDO:0015279 OMIM:212050 OMIMPS:114580 chronic mucocutaneous candidiasis -MONDO:0008905 predisposition to invasive fungal disease due to CARD9 deficiency MONDO:0021094 OMIM:212050 OMIMPS:300755 immunodeficiency disease MONDO:0008930 celiac disease, susceptibility to, 1 MONDO:0005130 OMIM:212750 OMIMPS:212750 celiac disease MONDO:0009068 cytochrome-c oxidase deficiency disease MONDO:0033885 OMIM:220110 OMIMPS:220110 mitochondrial complex IV deficiency, nuclear-type MONDO:0009069 congenital lactic acidosis, Saguenay-Lac-Saint-Jean type MONDO:0033885 OMIM:220111 OMIMPS:220110 mitochondrial complex IV deficiency, nuclear-type MONDO:0009080 split hand-foot malformation 1 with sensorineural hearing loss MONDO:0016576 OMIM:220600 OMIMPS:183600 split hand-foot malformation -MONDO:0009113 hemolytic anemia due to diphosphoglycerate mutase deficiency MONDO:0001115 OMIM:222800 OMIMPS:133100 familial polycythemia MONDO:0009131 Riley-Day syndrome MONDO:0015364 OMIM:223900 OMIMPS:162400 hereditary sensory and autonomic neuropathy MONDO:0009194 immunodeficiency 32B MONDO:0021094 OMIM:226990 OMIMPS:300755 immunodeficiency disease MONDO:0009305 granulocytopenia with immunoglobulin abnormality MONDO:0021094 OMIM:233600 OMIMPS:300755 immunodeficiency disease MONDO:0009335 hemolytic uremic syndrome, atypical, susceptibility to, 1 MONDO:0957097 OMIM:235400 OMIMPS:235400 hereditary hemolytic uremic syndrome MONDO:0009563 maple syrup urine disease MONDO:0009563 OMIM:248600 OMIMPS:248600 maple syrup urine disease -MONDO:0009650 mucolipidosis type II MONDO:0031422 OMIM:252500 OMIMPS:256550 familial mucolipidosis MONDO:0009681 Ullrich congenital muscular dystrophy 1 MONDO:0015152 OMIM:254090 OMIMPS:253600 autosomal recessive limb-girdle muscular dystrophy MONDO:0009696 juvenile myoclonic epilepsy MONDO:0009696 OMIM:254770 OMIMPS:254770 juvenile myoclonic epilepsy MONDO:0009724 nail-patella-like renal disease MONDO:0005363 OMIM:256020 OMIMPS:603278 inherited focal segmental glomerulosclerosis -MONDO:0009842 Pelger-Huet-like anomaly and episodic fever with abdominal pain MONDO:0021094 OMIM:260570 OMIMPS:300755 immunodeficiency disease MONDO:0009935 pulmonary hypertension, primary, autosomal recessive MONDO:0017148 OMIM:265400 OMIMPS:178600 heritable pulmonary arterial hypertension MONDO:0010278 Christianson syndrome MONDO:0020119 OMIM:300243 OMIMPS:309510 X-linked syndromic intellectual disability MONDO:0010284 Armfield syndrome MONDO:0020119 OMIM:300261 OMIMPS:309510 X-linked syndromic intellectual disability @@ -64,7 +56,6 @@ MONDO:0011362 myopathy, myofibrillar, 9, with early respiratory failure MONDO:00 MONDO:0011374 hypercholesterolemia, familial, 4 MONDO:0005439 OMIM:603813 OMIMPS:143890 familial hypercholesterolemia MONDO:0011387 psoriasis 4, susceptibility to MONDO:0005083 OMIM:603935 OMIMPS:177900 psoriasis MONDO:0011407 facial paresis, hereditary congenital, 2 MONDO:0011090 OMIM:604185 OMIMPS:601471 isolated hereditary congenital facial paralysis -MONDO:0011415 Leber congenital amaurosis 3 MONDO:0019200 OMIM:604232 OMIMPS:268000 retinitis pigmentosa MONDO:0011434 psoriasis 5, susceptibility to MONDO:0005083 OMIM:604316 OMIMPS:177900 psoriasis MONDO:0011451 cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1 MONDO:0033885 OMIM:604377 OMIMPS:220110 mitochondrial complex IV deficiency, nuclear-type MONDO:0011491 epilepsy, idiopathic generalized, susceptibility to, 7 MONDO:0005579 OMIM:604827 OMIMPS:600669 epilepsy, idiopathic generalized @@ -80,7 +71,6 @@ MONDO:0011608 dermatitis, atopic, 5 MONDO:0004980 OMIM:605844 OMIMPS:603165 atop MONDO:0011609 dermatitis, atopic, 6 MONDO:0004980 OMIM:605845 OMIMPS:603165 atopic eczema MONDO:0011650 atrioventricular septal defect, susceptibility to, 2 MONDO:0020290 OMIM:606217 OMIMPS:606215 familial atrioventricular septal defect MONDO:0011714 partial lipodystrophy, congenital cataracts, and neurodegeneration syndrome MONDO:0020088 OMIM:606721 OMIMPS:151660 familial partial lipodystrophy -MONDO:0011738 bilateral frontoparietal polymicrogyria MONDO:0000904 OMIM:606854 OMIMPS:614039 complex cortical dysplasia with other brain malformations MONDO:0011741 Hirschsprung disease, susceptibility to, 6 MONDO:0018309 OMIM:606874 OMIMPS:142623 Hirschsprung disease MONDO:0011742 Hirschsprung disease, susceptibility to, 7 MONDO:0018309 OMIM:606875 OMIMPS:142623 Hirschsprung disease MONDO:0011753 epilepsy, idiopathic generalized, susceptibility to, 2 MONDO:0005579 OMIM:606972 OMIMPS:600669 epilepsy, idiopathic generalized @@ -95,7 +85,6 @@ MONDO:0011892 epilepsy, idiopathic generalized, susceptibility to, 9 MONDO:00096 MONDO:0011896 Parkinson disease 11, autosomal dominant, susceptibility to MONDO:0005180 OMIM:607688 OMIMPS:168600 Parkinson disease MONDO:0011917 focal segmental glomerulosclerosis 3, susceptibility to MONDO:0005363 OMIM:607832 OMIMPS:603278 inherited focal segmental glomerulosclerosis MONDO:0011926 psoriasis 9, susceptibility to MONDO:0005083 OMIM:607857 OMIMPS:177900 psoriasis -MONDO:0011954 melanoma, cutaneous malignant, susceptibility to, 4 MONDO:0024462 OMIM:608035 OMIMPS:155600 familial cutaneous melanoma MONDO:0011974 retinitis pigmentosa 7 MONDO:0018998 OMIM:608133 OMIMPS:204000 Leber congenital amaurosis MONDO:0012042 Hirschsprung disease, susceptibility to, 8 MONDO:0018309 OMIM:608462 OMIMPS:142623 Hirschsprung disease MONDO:0012081 15q11q13 microduplication syndrome MONDO:0020836 OMIM:608636 OMIMPS:209850 autism, susceptiblity to @@ -103,7 +92,6 @@ MONDO:0012113 epilepsy, idiopathic generalized, susceptibility to, 3 MONDO:00055 MONDO:0012130 myofibrillar myopathy 2 MONDO:0018943 OMIM:608810 OMIMPS:601419 myofibrillar myopathy MONDO:0012134 myoclonic epilepsy, juvenile, susceptibility to, 3 MONDO:0009696 OMIM:608816 OMIMPS:254770 juvenile myoclonic epilepsy MONDO:0012141 orofacial cleft 6, susceptibility to MONDO:0000358 OMIM:608864 OMIMPS:119530 orofacial cleft -MONDO:0012183 melanoma, cutaneous malignant, susceptibility to, 3 MONDO:0024462 OMIM:609048 OMIMPS:155600 familial cutaneous melanoma MONDO:0012212 Loeys-Dietz syndrome 1 MONDO:0019625 OMIM:609192 OMIMPS:607086 familial thoracic aortic aneurysm and aortic dissection MONDO:0012317 visceral neuropathy, familial, 3, autosomal dominant MONDO:0023961 OMIM:609629 OMIMPS:243180 visceral neuropathy, familial MONDO:0012338 epilepsy, idiopathic generalized, susceptibility to, 4 MONDO:0005579 OMIM:609750 OMIMPS:600669 epilepsy, idiopathic generalized @@ -127,7 +115,6 @@ MONDO:0012702 celiac disease, susceptibility to, 6 MONDO:0005130 OMIM:611598 OMI MONDO:0012710 Hirschsprung disease, susceptibility to, 9 MONDO:0018309 OMIM:611644 OMIMPS:142623 Hirschsprung disease MONDO:0012737 long QT syndrome 10 MONDO:0018054 OMIM:611819 OMIMPS:608583 familial atrial fibrillation MONDO:0012744 dilated cardiomyopathy 1Y MONDO:0016333 OMIM:611878 OMIMPS:115200 familial dilated cardiomyopathy -MONDO:0012747 glycogen storage disease due to aldolase A deficiency MONDO:0002412 OMIM:611881 OMIMPS:232200 disorder of glycogen metabolism MONDO:0012756 proximal 16p11.2 microdeletion syndrome MONDO:0020836 OMIM:611913 OMIMPS:209850 autism, susceptiblity to MONDO:0012760 epilepsy, idiopathic generalized, susceptibility to, 5 MONDO:0005579 OMIM:611934 OMIMPS:600669 epilepsy, idiopathic generalized MONDO:0012763 epilepsy, childhood absence, susceptibility to, 6 MONDO:0005579 OMIM:611942 OMIMPS:600669 epilepsy, idiopathic generalized @@ -142,7 +129,6 @@ MONDO:0012782 celiac disease, susceptibility to, 13 MONDO:0005130 OMIM:612011 OM MONDO:0012786 juvenile cataract-microcornea-renal glucosuria syndrome MONDO:0005129 OMIM:612018 OMIMPS:116200 cataract MONDO:0012808 dilated cardiomyopathy 1AA MONDO:0024573 OMIM:612158 OMIMPS:192600 familial hypertrophic cardiomyopathy MONDO:0012839 pyogenic bacterial infections due to MyD88 deficiency MONDO:0021094 OMIM:612260 OMIMPS:300755 immunodeficiency disease -MONDO:0012842 melanoma, cutaneous malignant, susceptibility to, 7 MONDO:0024462 OMIM:612263 OMIMPS:155600 familial cutaneous melanoma MONDO:0012843 epilepsy, childhood absence, susceptibility to, 5 MONDO:0010826 OMIM:612269 OMIMPS:600131 childhood absence epilepsy MONDO:0012896 psoriasis 10, susceptibility to MONDO:0005083 OMIM:612410 OMIMPS:177900 psoriasis MONDO:0012898 narcolepsy 4, susceptibility to MONDO:0021107 OMIM:612417 OMIMPS:161400 narcolepsy @@ -157,12 +143,10 @@ MONDO:0013103 epilepsy, idiopathic generalized, susceptibility to, 10 MONDO:0009 MONDO:0013103 epilepsy, idiopathic generalized, susceptibility to, 10 MONDO:0018214 OMIM:613060 OMIMPS:604233 generalized epilepsy with febrile seizures plus MONDO:0013107 dermatitis, atopic, 7 MONDO:0004980 OMIM:613064 OMIMPS:603165 atopic eczema MONDO:0013129 cone dystrophy 4 MONDO:0015993 OMIM:613093 OMIMPS:120970 cone-rod dystrophy -MONDO:0013133 melanoma, cutaneous malignant, susceptibility to, 5 MONDO:0024462 OMIM:613099 OMIMPS:155600 familial cutaneous melanoma MONDO:0013146 Brugada syndrome 7 MONDO:0018054 OMIM:613120 OMIMPS:608583 familial atrial fibrillation MONDO:0013193 thyrotoxic periodic paralysis, susceptibility to, 2 MONDO:0019201 OMIM:613239 OMIMPS:188580 thyrotoxic periodic paralysis MONDO:0013261 dilated cardiomyopathy 1R MONDO:0016333 OMIM:613424 OMIMPS:115200 familial dilated cardiomyopathy MONDO:0013262 dilated cardiomyopathy 1S MONDO:0016333 OMIM:613426 OMIMPS:115200 familial dilated cardiomyopathy -MONDO:0013263 retinitis pigmentosa 54 MONDO:0015993 OMIM:613428 OMIMPS:120970 cone-rod dystrophy MONDO:0013294 dermatitis, atopic, 8 MONDO:0004980 OMIM:613518 OMIMPS:603165 atopic eczema MONDO:0013295 dermatitis, atopic, 9 MONDO:0004980 OMIM:613519 OMIMPS:603165 atopic eczema MONDO:0013340 Parkinson disease 5, autosomal dominant, susceptibility to MONDO:0005180 OMIM:613643 OMIMPS:168600 Parkinson disease @@ -174,7 +158,6 @@ MONDO:0013468 retinitis pigmentosa 59 MONDO:0005500 OMIM:613861 OMIMPS:212065 co MONDO:0013470 generalized epilepsy with febrile seizures plus, type 7 MONDO:0000032 OMIM:613863 OMIMPS:121210 febrile seizures, familial MONDO:0013496 IgA nephropathy, susceptibility to, 2 MONDO:0005342 OMIM:613944 OMIMPS:161950 IgA glomerulonephritis MONDO:0013500 immunodeficiency 51 MONDO:0021094 OMIM:613953 OMIMPS:300755 immunodeficiency disease -MONDO:0013510 melanoma, cutaneous malignant, susceptibility to, 6 MONDO:0024462 OMIM:613972 OMIMPS:155600 familial cutaneous melanoma MONDO:0013546 mitochondrial complex V (ATP synthase) deficiency nuclear type 2 MONDO:0014471 OMIM:614052 OMIMPS:604273 mitochondrial proton-transporting ATP synthase complex deficiency MONDO:0013554 psoriasis 13, susceptibility to MONDO:0005083 OMIM:614070 OMIMPS:177900 psoriasis MONDO:0013568 sick sinus syndrome 3, susceptibility to MONDO:0012061 OMIM:614090 OMIMPS:608567 familial sick sinus syndrome @@ -184,8 +167,6 @@ MONDO:0013633 encephalopathy, acute, infection-induced, susceptibility to, 4 MON MONDO:0013639 narcolepsy 6, susceptibility to MONDO:0021107 OMIM:614223 OMIMPS:161400 narcolepsy MONDO:0013653 Parkinson disease 18, autosomal dominant, susceptibility to MONDO:0005180 OMIM:614251 OMIMPS:168600 Parkinson disease MONDO:0013665 epilepsy, juvenile myoclonic, susceptibility to, 9 MONDO:0009696 OMIM:614280 OMIMPS:254770 juvenile myoclonic epilepsy -MONDO:0013759 melanoma, cutaneous malignant, susceptibility to, 8 MONDO:0024462 OMIM:614456 OMIMPS:155600 familial cutaneous melanoma -MONDO:0013805 intellectual disability, autosomal dominant 13 MONDO:0000904 OMIM:614563 OMIMPS:614039 complex cortical dysplasia with other brain malformations MONDO:0013819 intellectual disability, autosomal dominant 14 MONDO:0100172 OMIM:614607 OMIMPS:156200 intellectual disability, autosomal dominant MONDO:0013820 intellectual disability, autosomal dominant 15 MONDO:0100172 OMIM:614608 OMIMPS:156200 intellectual disability, autosomal dominant MONDO:0013821 intellectual disability, autosomal dominant 16 MONDO:0100172 OMIM:614609 OMIMPS:156200 intellectual disability, autosomal dominant @@ -200,11 +181,9 @@ MONDO:0013954 Mendelian susceptibility to mycobacterial diseases due to complete MONDO:0013955 Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency MONDO:0021094 OMIM:614891 OMIMPS:300755 immunodeficiency disease MONDO:0013956 Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency MONDO:0021094 OMIM:614892 OMIMPS:300755 immunodeficiency disease MONDO:0013957 Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency MONDO:0021094 OMIM:614893 OMIMPS:300755 immunodeficiency disease -MONDO:0013968 PGM1-congenital disorder of glycosylation MONDO:0002412 OMIM:614921 OMIMPS:232200 disorder of glycogen metabolism MONDO:0014005 immunoglobulin-mediated membranoproliferative glomerulonephritis MONDO:0957097 OMIM:615008 OMIMPS:235400 hereditary hemolytic uremic syndrome MONDO:0014016 hereditary spastic paraplegia 49 MONDO:0015364 OMIM:615031 OMIMPS:162400 hereditary sensory and autonomic neuropathy MONDO:0014051 cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2 MONDO:0033885 OMIM:615119 OMIMPS:220110 mitochondrial complex IV deficiency, nuclear-type -MONDO:0014056 melanoma, cutaneous malignant, susceptibility to, 9 MONDO:0024462 OMIM:615134 OMIMPS:155600 familial cutaneous melanoma MONDO:0014059 microphthalmia, isolated, with coloboma 9 MONDO:0016073 OMIM:615145 OMIMPS:309800 syndromic microphthalmia MONDO:0014067 short ulna-dysmorphism-hypotonia-intellectual disability syndrome MONDO:0019502 OMIM:615162 OMIMPS:249500 autosomal recessive non-syndromic intellectual disability MONDO:0014119 intellectual disability-strabismus syndrome MONDO:0019502 OMIM:615286 OMIMPS:249500 autosomal recessive non-syndromic intellectual disability @@ -219,9 +198,7 @@ MONDO:0014266 age related macular degeneration 15 MONDO:0005150 OMIM:615591 OMIM MONDO:0014273 microcephaly-thin corpus callosum-intellectual disability syndrome MONDO:0019502 OMIM:615599 OMIMPS:249500 autosomal recessive non-syndromic intellectual disability MONDO:0014289 macrocephaly-developmental delay syndrome MONDO:0019502 OMIM:615637 OMIMPS:249500 autosomal recessive non-syndromic intellectual disability MONDO:0014313 autosomal recessive primary immunodeficiency with defective spontaneous natural killer cell cytotoxicity MONDO:0021094 OMIM:615707 OMIMPS:300755 immunodeficiency disease -MONDO:0014333 polymicrogyria, bilateral perisylvian, autosomal recessive MONDO:0000904 OMIM:615752 OMIMPS:614039 complex cortical dysplasia with other brain malformations MONDO:0014336 intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency MONDO:0100172 OMIM:615761 OMIMPS:156200 intellectual disability, autosomal dominant -MONDO:0014368 melanoma, cutaneous malignant, susceptibility to, 10 MONDO:0024462 OMIM:615848 OMIMPS:155600 familial cutaneous melanoma MONDO:0014429 autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency MONDO:0021094 OMIM:615978 OMIMPS:300755 immunodeficiency disease MONDO:0014482 intellectual disability, autosomal dominant 29 MONDO:0100172 OMIM:616078 OMIMPS:156200 intellectual disability, autosomal dominant MONDO:0014486 intellectual disability, autosomal dominant 30 MONDO:0100172 OMIM:616083 OMIMPS:156200 intellectual disability, autosomal dominant @@ -231,6 +208,7 @@ MONDO:0014502 Mendelian susceptibility to mycobacterial diseases due to complete MONDO:0014520 46,XX ovarian dysgenesis-short stature syndrome MONDO:0009299 OMIM:616185 OMIMPS:233300 46 XX gonadal dysgenesis MONDO:0014559 progressive essential tremor-speech impairment-facial dysmorphism-intellectual disability-abnormal behavior syndrome MONDO:0019502 OMIM:616269 OMIMPS:249500 autosomal recessive non-syndromic intellectual disability MONDO:0014597 immunodeficiency 39 MONDO:0021094 OMIM:616345 OMIMPS:300755 immunodeficiency disease +MONDO:0014605 microcephaly-corpus callosum hypoplasia-intellectual disability-facial dysmorphism syndrome MONDO:0100172 OMIM:616362 OMIMPS:156200 intellectual disability, autosomal dominant MONDO:0014667 cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 3 MONDO:0033885 OMIM:616500 OMIMPS:220110 mitochondrial complex IV deficiency, nuclear-type MONDO:0014668 cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 4 MONDO:0033885 OMIM:616501 OMIMPS:220110 mitochondrial complex IV deficiency, nuclear-type MONDO:0014680 herpes simplex encephalitis, susceptibility to, 7 MONDO:0000166 OMIM:616532 OMIMPS:610551 encephalopathy, acute, infection-induced @@ -264,15 +242,11 @@ MONDO:0030872 frontotemporal dementia and/or amyotrophic lateral sclerosis 8 MON MONDO:0030875 frontotemporal dementia and/or amyotrophic lateral sclerosis 5 MONDO:0017161 OMIM:619141 OMIMPS:105550 frontotemporal dementia with motor neuron disease MONDO:0030928 microcephaly 26, primary, autosomal dominant MONDO:0016660 OMIM:619179 OMIMPS:251200 autosomal recessive primary microcephaly MONDO:0030929 microcephaly 27, primary, autosomal dominant MONDO:0016660 OMIM:619180 OMIMPS:251200 autosomal recessive primary microcephaly -MONDO:0031008 nephrotic syndrome, type 24 MONDO:0002350 OMIM:619263 OMIMPS:256300 familial nephrotic syndrome -MONDO:0032659 mucocutaneous ulceration, chronic MONDO:0031384 OMIM:618287 OMIMPS:616744 autoinflammatory syndrome, familial, Behcet-like MONDO:0032699 epilepsy, idiopathic generalized, susceptibility to, 15 MONDO:0005579 OMIM:618357 OMIMPS:600669 epilepsy, idiopathic generalized MONDO:0032702 Coffin-Siris syndrome 8 MONDO:0100172 OMIM:618362 OMIMPS:156200 intellectual disability, autosomal dominant MONDO:0032742 encephalopathy, acute, infection-induced, susceptibility to, 9 MONDO:0000166 OMIM:618426 OMIMPS:610551 encephalopathy, acute, infection-induced MONDO:0032827 epilepsy, idiopathic generalized, susceptibility to, 16 MONDO:0005579 OMIM:618596 OMIMPS:600669 epilepsy, idiopathic generalized MONDO:0032853 myopathy, distal, 6, adult-onset, autosomal dominant MONDO:0018949 OMIM:618655 OMIMPS:160500 distal myopathy -MONDO:0032862 hydrocephalus, congenital communicating, 1 MONDO:0016349 OMIM:618667 OMIMPS:236600 congenital hydrocephalus -MONDO:0032893 pachygyria, microcephaly, developmental delay, and dysmorphic facies, with or without seizures MONDO:0000904 OMIM:618737 OMIMPS:614039 complex cortical dysplasia with other brain malformations MONDO:0033044 Meckel syndrome 13 MONDO:0018772 OMIM:617562 OMIMPS:213300 Joubert syndrome MONDO:0033492 Coffin-Siris syndrome 6 MONDO:0015452 OMIM:617808 OMIMPS:135900 Coffin-Siris syndrome MONDO:0033560 mitochondrial complex 1 deficiency, nuclear type 35 MONDO:0100223 OMIM:619003 OMIMPS:252010 mitochondrial complex I deficiency, nuclear type @@ -295,5 +269,3 @@ MONDO:0100519 epilepsy, idiopathic generalized, susceptibility to, 17 MONDO:0018 MONDO:0800187 immunodeficiency 83, susceptibility to viral infections MONDO:0000166 OMIM:613002 OMIMPS:610551 encephalopathy, acute, infection-induced MONDO:0800187 immunodeficiency 83, susceptibility to viral infections MONDO:0021094 OMIM:613002 OMIMPS:300755 immunodeficiency disease MONDO:0800447 bleeding disorder, platelet-type, 13, susceptibility to MONDO:0000009 OMIM:614009 OMIMPS:231200 inherited bleeding disorder, platelet-type -MONDO:0859183 Parkinson disease 24, autosomal dominant, susceptibility to MONDO:0005180 OMIM:619491 OMIMPS:168600 Parkinson disease -MONDO:0859376 hydrocephalus, congenital, 5, susceptibility to MONDO:0016349 OMIM:620241 OMIMPS:236600 congenital hydrocephalus diff --git a/src/ontology/reports/omim.subclass.confirmed.robot.tsv b/src/ontology/reports/omim.subclass.confirmed.robot.tsv index 5591eccf..57ef8e5f 100644 --- a/src/ontology/reports/omim.subclass.confirmed.robot.tsv +++ b/src/ontology/reports/omim.subclass.confirmed.robot.tsv @@ -1,6 +1,5 @@ subject_mondo_id subject_mondo_label object_mondo_id subject_source_id object_source_id object_mondo_label ID SC % >A oboInOwl:source -MONDO:0000208 microcephaly, short stature, and impaired glucose metabolism 1 MONDO:0800450 OMIM:616033 OMIMPS:616033 microcephaly, short stature, and impaired glucose metabolism MONDO:0000908 arrhythmogenic right ventricular dysplasia 13 MONDO:0016342 OMIM:615616 OMIMPS:107970 familial isolated arrhythmogenic right ventricular dysplasia MONDO:0000910 retinitis pigmentosa 6 MONDO:0019200 OMIM:312612 OMIMPS:268000 retinitis pigmentosa MONDO:0000912 autosomal recessive nonsyndromic hearing loss 5 MONDO:0019588 OMIM:600792 OMIMPS:220290 hearing loss, autosomal recessive @@ -9,7 +8,6 @@ MONDO:0007044 Acrodysostosis 1 with or without hormone resistance MONDO:0019797 MONDO:0007052 growth hormone secreting pituitary adenoma 1 MONDO:0017824 OMIM:102200 OMIMPS:102200 familial isolated pituitary adenoma MONDO:0007053 restless legs syndrome, susceptibility to, 1 MONDO:0100170 OMIM:102300 OMIMPS:102300 restless legs syndrome, susceptibility to MONDO:0007060 spermatogenic failure 6 MONDO:0004983 OMIM:102530 OMIMPS:258150 spermatogenic failure -MONDO:0007064 severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency MONDO:0031520 OMIM:102700 OMIMPS:601457 familial severe combined immunodeficiency MONDO:0007080 glucocorticoid-remediable aldosteronism MONDO:0016525 OMIM:103900 OMIMPS:103900 familial hyperaldosteronism MONDO:0007082 alopecia areata 1 MONDO:0000005 OMIM:104000 OMIMPS:203655 alopecia, isolated MONDO:0007084 familial focal alopecia MONDO:0000005 OMIM:104110 OMIMPS:203655 alopecia, isolated @@ -86,20 +84,16 @@ MONDO:0007559 photoparoxysmal response 1 MONDO:0015643 OMIM:132100 OMIMPS:132100 MONDO:0007561 multiple epiphyseal dysplasia type 1 MONDO:0016648 OMIM:132400 OMIMPS:132400 multiple epiphyseal dysplasia MONDO:0007568 aortic aneurysm, familial thoracic 4 MONDO:0019625 OMIM:132900 OMIMPS:607086 familial thoracic aortic aneurysm and aortic dissection MONDO:0007572 primary familial polycythemia due to EPO receptor mutation MONDO:0001115 OMIM:133100 OMIMPS:133100 familial polycythemia -MONDO:0007585 exostoses, multiple, type 1 MONDO:0005508 OMIM:133700 OMIMPS:133700 hereditary multiple osteochondromas -MONDO:0007586 exostoses, multiple, type 2 MONDO:0005508 OMIM:133701 OMIMPS:133700 hereditary multiple osteochondromas MONDO:0007589 exudative vitreoretinopathy 1 MONDO:0019516 OMIM:133780 OMIMPS:133780 exudative vitreoretinopathy MONDO:0007609 fibromatosis, gingival, 1 MONDO:0016070 OMIM:135300 OMIMPS:135300 hereditary gingival fibromatosis MONDO:0007617 Coffin-Siris syndrome 1 MONDO:0015452 OMIM:135900 OMIMPS:135900 Coffin-Siris syndrome MONDO:0007627 focal facial dermal dysplasia type I MONDO:0018363 OMIM:136500 OMIMPS:136500 focal facial dermal dysplasia MONDO:0007628 foveal hypoplasia 1 MONDO:0044203 OMIM:136520 OMIMPS:136520 foveal hypoplasia -MONDO:0007630 North Carolina macular dystrophy MONDO:0031166 OMIM:136550 OMIMPS:136550 macular dystrophy, retinal MONDO:0007636 frontorhiny MONDO:0016643 OMIM:136760 OMIMPS:136760 frontonasal dysplasia MONDO:0007637 corneal dystrophy, Fuchs endothelial, 1 MONDO:0005321 OMIM:136800 OMIMPS:136800 Fuchs' endothelial dystrophy MONDO:0007681 goiter, multinodular 1, with or without Sertoli-Leydig cell tumors MONDO:0000334 OMIM:138800 OMIMPS:138800 multinodular goiter MONDO:0007686 gray platelet syndrome MONDO:0000009 OMIM:139090 OMIMPS:231200 inherited bleeding disorder, platelet-type MONDO:0007701 progressive familial heart block type II MONDO:0019490 OMIM:140400 OMIMPS:113900 progressive familial heart block -MONDO:0007719 diaphragmatic hernia 1 MONDO:0005711 OMIM:142340 OMIMPS:142340 congenital diaphragmatic hernia MONDO:0007728 acne inversa, familial, 1 MONDO:0024516 OMIM:142690 OMIMPS:142690 familial acne inversa MONDO:0007729 developmental dysplasia of the hip 1 MONDO:0000158 OMIM:142700 OMIMPS:142700 developmental dysplasia of the hip MONDO:0007733 holoprosencephaly 3 MONDO:0016296 OMIM:142945 OMIMPS:236100 holoprosencephaly @@ -115,8 +109,6 @@ MONDO:0007792 familial hypocalciuric hypercalcemia 2 MONDO:0018458 OMIM:145981 O MONDO:0007796 hypoparathyroidism, familial isolated 1 MONDO:0016390 OMIM:146200 OMIMPS:146200 familial hypoparathyroidism MONDO:0007802 hypospadias 3, autosomal MONDO:0005345 OMIM:146450 OMIMPS:300633 hypospadias MONDO:0007805 hypotrichosis 2 MONDO:0003037 OMIM:146520 OMIMPS:605389 hypotrichosis -MONDO:0007808 ichthyosis hystrix of Curth-Macklin MONDO:0859383 OMIM:146590 OMIMPS:146590 ichthyosis hystrix -MONDO:0007809 ichthyosis histrix, Lambert type MONDO:0859383 OMIM:146600 OMIMPS:146590 ichthyosis hystrix MONDO:0007818 hyper-IgE recurrent infection syndrome 1, autosomal dominant MONDO:0018037 OMIM:147060 OMIMPS:147060 hyper-IgE syndrome MONDO:0007843 Kabuki syndrome 1 MONDO:0016512 OMIM:147920 OMIMPS:147920 Kabuki syndrome MONDO:0007850 autosomal dominant keratitis-ichthyosis-hearing loss syndrome MONDO:0018781 OMIM:148210 OMIMPS:148210 KID syndrome @@ -136,6 +128,8 @@ MONDO:0007938 46,XY sex reversal 4 MONDO:0010765 OMIM:154230 OMIMPS:400044 46,XY MONDO:0007939 malignant hyperthermia, susceptibility to, 2 MONDO:0800188 OMIM:154275 OMIMPS:145600 malignant hyperthermia, susceptibility to MONDO:0007940 malignant hyperthermia, susceptibility to, 3 MONDO:0800188 OMIM:154276 OMIMPS:145600 malignant hyperthermia, susceptibility to MONDO:0007944 Treacher Collins syndrome 1 MONDO:0002457 OMIM:154500 OMIMPS:154500 Treacher-Collins syndrome +MONDO:0007963 melanoma, cutaneous malignant, susceptibility to, 1 MONDO:0024462 OMIM:155600 OMIMPS:155600 susceptibility to familial cutaneous melanoma +MONDO:0007964 melanoma, cutaneous malignant, susceptibility to, 2 MONDO:0024462 OMIM:155601 OMIMPS:155600 susceptibility to familial cutaneous melanoma MONDO:0007974 intellectual disability, autosomal dominant 1 MONDO:0100172 OMIM:156200 OMIMPS:156200 intellectual disability, autosomal dominant MONDO:0007987 Kniest dysplasia MONDO:0016763 OMIM:156550 OMIMPS:184255 spondylometaphyseal dysplasia MONDO:0007999 holoprosencephaly 2 MONDO:0016296 OMIM:157170 OMIMPS:236100 holoprosencephaly @@ -168,7 +162,6 @@ MONDO:0008173 pachyonychia congenita 1 MONDO:0016471 OMIM:167200 OMIMPS:167200 p MONDO:0008174 pachyonychia congenita 2 MONDO:0016471 OMIM:167210 OMIMPS:167200 pachyonychia congenita MONDO:0008176 Paget disease of bone 3 MONDO:0005382 OMIM:167250 OMIMPS:167250 bone Paget disease MONDO:0008178 inclusion body myopathy with Paget disease of bone and frontotemporal dementia type 1 MONDO:0000507 OMIM:167320 OMIMPS:167320 inclusion body myopathy with Paget disease of bone and frontotemporal dementia -MONDO:0008187 panic disorder 1 MONDO:0031240 OMIM:167870 OMIMPS:167870 familial panic disorder MONDO:0008192 paragangliomas 1 MONDO:0000448 OMIM:168000 OMIMPS:168000 paraganglioma MONDO:0008197 parietal foramina 1 MONDO:0018953 OMIM:168500 OMIMPS:168500 parietal foramina MONDO:0008199 late-onset Parkinson disease MONDO:0005180 OMIM:168600 OMIMPS:168600 Parkinson disease @@ -194,12 +187,10 @@ MONDO:0008378 retinitis pigmentosa 9 MONDO:0019200 OMIM:180104 OMIMPS:268000 ret MONDO:0008379 retinitis pigmentosa 10 MONDO:0019200 OMIM:180105 OMIMPS:268000 retinitis pigmentosa MONDO:0008386 Axenfeld-Rieger syndrome type 1 MONDO:0019187 OMIM:180500 OMIMPS:180500 Axenfeld-Rieger syndrome MONDO:0008393 Rubinstein-Taybi syndrome due to CREBBP mutations MONDO:0019188 OMIM:180849 OMIMPS:180849 Rubinstein-Taybi syndrome -MONDO:0008409 congenital myopathy 7A, myosin storage, autosomal dominant MONDO:0019952 OMIM:608358 OMIMPS:117000 congenital myopathy MONDO:0008422 autosomal dominant sideroblastic anemia MONDO:0020099 OMIM:182170 OMIMPS:300751 inherited sideroblastic anemia MONDO:0008428 septooptic dysplasia MONDO:0013099 OMIM:182230 OMIMPS:613038 combined pituitary hormone deficiencies, genetic form MONDO:0008437 hereditary spastic paraplegia 3A MONDO:0019064 OMIM:182600 OMIMPS:303350 hereditary spastic paraplegia MONDO:0008438 hereditary spastic paraplegia 4 MONDO:0019064 OMIM:182601 OMIMPS:303350 hereditary spastic paraplegia -MONDO:0008451 neuronopathy, distal hereditary motor, autosomal dominant 1 MONDO:0015362 OMIM:182960 OMIMPS:182960 neuronopathy, distal hereditary motor, autosomal dominant MONDO:0008458 spinocerebellar ataxia type 2 MONDO:0005144 OMIM:183090 OMIMPS:105400 familial amyotrophic lateral sclerosis MONDO:0008464 split hand-foot malformation 1 MONDO:0016576 OMIM:183600 OMIMPS:183600 split hand-foot malformation MONDO:0008468 spondyloarthropathy, susceptibility to, 2 MONDO:0024512 OMIM:183840 OMIMPS:106300 spondyloarthropathy, susceptibility to @@ -226,6 +217,7 @@ MONDO:0008612 tuberous sclerosis 1 MONDO:0001734 OMIM:191100 OMIMPS:191100 tuber MONDO:0008617 inflammatory bowel disease 11 MONDO:0005265 OMIM:191390 OMIMPS:266600 inflammatory bowel disease MONDO:0008647 hypertrophic cardiomyopathy 1 MONDO:0024573 OMIM:192600 OMIMPS:192600 familial hypertrophic cardiomyopathy MONDO:0008653 vesicoureteral reflux 1 MONDO:0017329 OMIM:193000 OMIMPS:193000 familial vesicoureteral reflux +MONDO:0008654 spinocerebellar ataxia 27A MONDO:0005712 OMIM:193003 OMIMPS:310700 congenital nystagmus MONDO:0008660 autosomal dominant hypophosphatemic rickets MONDO:0000044 OMIM:193100 OMIMPS:193100 hereditary hypophosphatemic rickets MONDO:0008670 Waardenburg syndrome type 1 MONDO:0018094 OMIM:193500 OMIMPS:193500 Waardenburg syndrome MONDO:0008675 Freeman-Sheldon syndrome MONDO:0019942 OMIM:193700 OMIMPS:108120 distal arthrogryposis @@ -254,7 +246,6 @@ MONDO:0008823 arthrogryposis multiplex congenita 2, neurogenic type MONDO:001516 MONDO:0008831 asphyxiating thoracic dystrophy 1 MONDO:0018770 OMIM:208500 OMIMPS:208500 Jeune syndrome MONDO:0008833 renal-hepatic-pancreatic dysplasia 1 MONDO:0017417 OMIM:208540 OMIMPS:208540 renal-hepatic-pancreatic dysplasia MONDO:0008854 Bardet-Biedl syndrome 1 MONDO:0015229 OMIM:209900 OMIMPS:209900 Bardet-Biedl syndrome -MONDO:0008855 MHC class II deficiency MONDO:0031520 OMIM:209920 OMIMPS:601457 familial severe combined immunodeficiency MONDO:0008861 3-methylcrotonyl-CoA carboxylase 1 deficiency MONDO:0018950 OMIM:210200 OMIMPS:210200 3-methylcrotonyl-CoA carboxylase deficiency MONDO:0008862 3-methylcrotonyl-CoA carboxylase 2 deficiency MONDO:0018950 OMIM:210210 OMIMPS:210200 3-methylcrotonyl-CoA carboxylase deficiency MONDO:0008869 Seckel syndrome 1 MONDO:0019342 OMIM:210600 OMIMPS:210600 Seckel syndrome @@ -262,7 +253,6 @@ MONDO:0008876 Bloom syndrome MONDO:0020629 OMIM:210900 OMIMPS:210900 microcephal MONDO:0008892 progressive familial intrahepatic cholestasis type 1 MONDO:0015762 OMIM:211600 OMIMPS:211600 progressive familial intrahepatic cholestasis MONDO:0008907 PMM2-congenital disorder of glycosylation MONDO:0005500 OMIM:212065 OMIMPS:212065 congenital disorder of glycosylation type I MONDO:0008908 MGAT2-congenital disorder of glycosylation MONDO:0005501 OMIM:212066 OMIMPS:212066 congenital disorder of glycosylation type II -MONDO:0008913 cardiac valvular defect, developmental MONDO:0031323 OMIM:212093 OMIMPS:212093 cardiac valvular defect MONDO:0008922 Sengers syndrome MONDO:0018158 OMIM:212350 OMIMPS:603041 mitochondrial DNA depletion syndrome MONDO:0008944 Joubert syndrome 1 MONDO:0018772 OMIM:213300 OMIMPS:213300 Joubert syndrome MONDO:0008955 cerebrooculofacioskeletal syndrome 1 MONDO:0008926 OMIM:214150 OMIMPS:214150 COFS syndrome @@ -278,7 +268,6 @@ MONDO:0009073 Ritscher-Schinzel syndrome 1 MONDO:0019078 OMIM:220210 OMIMPS:2202 MONDO:0009076 autosomal recessive nonsyndromic hearing loss 1A MONDO:0019588 OMIM:220290 OMIMPS:220290 hearing loss, autosomal recessive MONDO:0009091 non-acquired combined pituitary hormone deficiency with spine abnormalities MONDO:0013099 OMIM:221750 OMIMPS:613038 combined pituitary hormone deficiencies, genetic form MONDO:0009097 persistent hyperplastic primary vitreous, autosomal recessive MONDO:0019631 OMIM:221900 OMIMPS:221900 persistent hyperplastic primary vitreous -MONDO:0009103 diaphragmatic hernia 2 MONDO:0005711 OMIM:222400 OMIMPS:142340 congenital diaphragmatic hernia MONDO:0009112 rhizomelic chondrodysplasia punctata type 2 MONDO:0015776 OMIM:222765 OMIMPS:215100 rhizomelic chondrodysplasia punctata MONDO:0009123 orthostatic hypotension 1 MONDO:0021272 OMIM:223360 OMIMPS:223360 inherited orthostatic hypotension MONDO:0009134 congenital dyserythropoietic anemia type 2 MONDO:0019403 OMIM:224100 OMIMPS:224120 congenital dyserythropoietic anemia @@ -311,12 +300,6 @@ MONDO:0009257 galactose epimerase deficiency MONDO:0018116 OMIM:230350 OMIMPS:23 MONDO:0009258 classic galactosemia MONDO:0018116 OMIM:230400 OMIMPS:230400 galactosemia MONDO:0009269 geleophysic dysplasia 1 MONDO:0000127 OMIM:231050 OMIMPS:231050 geleophysic dysplasia MONDO:0009276 Bernard-Soulier syndrome MONDO:0000009 OMIM:231200 OMIMPS:231200 inherited bleeding disorder, platelet-type -MONDO:0009290 glycogen storage disease II MONDO:0002412 OMIM:232300 OMIMPS:232200 disorder of glycogen metabolism -MONDO:0009291 glycogen storage disease III MONDO:0002412 OMIM:232400 OMIMPS:232200 disorder of glycogen metabolism -MONDO:0009292 glycogen storage disease due to glycogen branching enzyme deficiency MONDO:0002412 OMIM:232500 OMIMPS:232200 disorder of glycogen metabolism -MONDO:0009293 glycogen storage disease V MONDO:0002412 OMIM:232600 OMIMPS:232200 disorder of glycogen metabolism -MONDO:0009294 glycogen storage disease VI MONDO:0002412 OMIM:232700 OMIMPS:232200 disorder of glycogen metabolism -MONDO:0009295 glycogen storage disease VII MONDO:0002412 OMIM:232800 OMIMPS:232200 disorder of glycogen metabolism MONDO:0009300 Perrault syndrome 1 MONDO:0017312 OMIM:233400 OMIMPS:233400 Perrault syndrome MONDO:0009301 46,XY sex reversal 7 MONDO:0010765 OMIM:233420 OMIMPS:400044 46,XY complete gonadal dysgenesis MONDO:0009308 granulomatous disease, chronic, autosomal recessive, cytochrome b-negative MONDO:0018305 OMIM:233690 OMIMPS:306400 chronic granulomatous disease @@ -337,7 +320,6 @@ MONDO:0009383 transient familial neonatal hyperbilirubinemia MONDO:0002408 OMIM: MONDO:0009394 juvenile Paget disease MONDO:0005382 OMIM:239000 OMIMPS:167250 bone Paget disease MONDO:0009398 hyperphosphatasia with intellectual disability syndrome 1 MONDO:0016596 OMIM:239300 OMIMPS:239300 hyperphosphatasia-intellectual disability syndrome MONDO:0009413 immunodeficiency, common variable, 2 MONDO:0015517 OMIM:240500 OMIMPS:607594 common variable immunodeficiency -MONDO:0009414 glycogen storage disorder due to hepatic glycogen synthase deficiency MONDO:0002412 OMIM:240600 OMIMPS:232200 disorder of glycogen metabolism MONDO:0009424 Bartter disease type 2 MONDO:0015231 OMIM:241200 OMIMPS:601678 Bartter syndrome MONDO:0009433 hypoplastic left heart syndrome 1 MONDO:0004933 OMIM:241550 OMIMPS:241550 hypoplastic left heart syndrome MONDO:0009434 hypoproteinemia, hypercatabolic MONDO:0021094 OMIM:241600 OMIMPS:300755 immunodeficiency disease @@ -375,8 +357,6 @@ MONDO:0009643 sulfite oxidase deficiency due to molybdenum cofactor deficiency t MONDO:0009644 sulfite oxidase deficiency due to molybdenum cofactor deficiency type B MONDO:0020480 OMIM:252160 OMIMPS:252150 sulfite oxidase deficiency due to molybdenum cofactor deficiency MONDO:0009646 monosomy 7 myelodysplasia and leukemia syndrome 1 MONDO:0044645 OMIM:252270 OMIMPS:252270 familial monosomy 7 syndrome MONDO:0009649 moyamoya disease 1 MONDO:0016820 OMIM:252350 OMIMPS:252350 Moyamoya disease -MONDO:0009652 GNPTG-mucolipidosis MONDO:0031422 OMIM:252605 OMIMPS:256550 familial mucolipidosis -MONDO:0009653 mucolipidosis type IV MONDO:0031422 OMIM:252650 OMIMPS:256550 familial mucolipidosis MONDO:0009661 mucopolysaccharidosis type 6 MONDO:0019249 OMIM:253200 OMIMPS:607014 mucopolysaccharidosis MONDO:0009662 mucopolysaccharidosis type 7 MONDO:0019249 OMIM:253220 OMIMPS:607014 mucopolysaccharidosis MONDO:0009667 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3 MONDO:0000171 OMIM:253280 OMIMPS:236670 muscular dystrophy-dystroglycanopathy, type A @@ -391,16 +371,13 @@ MONDO:0009689 congenital myasthenic syndrome 6 MONDO:0018940 OMIM:254210 OMIMPS: MONDO:0009697 Lafora disease MONDO:0020074 OMIM:254780 OMIMPS:254800 progressive myoclonus epilepsy MONDO:0009698 Unverricht-Lundborg syndrome MONDO:0020074 OMIM:254800 OMIMPS:254800 progressive myoclonus epilepsy MONDO:0009699 action myoclonus-renal failure syndrome MONDO:0020074 OMIM:254900 OMIMPS:254800 progressive myoclonus epilepsy -MONDO:0009708 myopathy, myosin storage, autosomal recessive MONDO:0019952 OMIM:255160 OMIMPS:117000 congenital myopathy MONDO:0009713 myopia 18, autosomal recessive MONDO:0001384 OMIM:255500 OMIMPS:160700 myopia -MONDO:0009722 Bailey-Bloch congenital myopathy MONDO:0019952 OMIM:255995 OMIMPS:117000 congenital myopathy MONDO:0009727 atelosteogenesis type II MONDO:0000389 OMIM:256050 OMIMPS:108720 atelosteogenesis MONDO:0009728 nephronophthisis 1 MONDO:0019005 OMIM:256100 OMIMPS:256100 nephronophthisis MONDO:0009732 congenital nephrotic syndrome, Finnish type MONDO:0002350 OMIM:256300 OMIMPS:256300 familial nephrotic syndrome MONDO:0009733 nephrotic syndrome, type 4 MONDO:0002350 OMIM:256370 OMIMPS:256300 familial nephrotic syndrome MONDO:0009734 hyperinsulinemic hypoglycemia, familial, 1 MONDO:0005803 OMIM:256450 OMIMPS:256450 hyperinsulinemic hypoglycemia MONDO:0009736 Neu-Laxova syndrome 1 MONDO:0000179 OMIM:256520 OMIMPS:256520 Neu-Laxova syndrome -MONDO:0009738 sialidosis type 2 MONDO:0031422 OMIM:256550 OMIMPS:256550 familial mucolipidosis MONDO:0009744 neuronal ceroid lipofuscinosis 1 MONDO:0016295 OMIM:256730 OMIMPS:256730 neuronal ceroid lipofuscinosis MONDO:0009745 neuronal ceroid lipofuscinosis 5 MONDO:0016295 OMIM:256731 OMIMPS:256730 neuronal ceroid lipofuscinosis MONDO:0009746 hereditary sensory and autonomic neuropathy type 4 MONDO:0015364 OMIM:256800 OMIMPS:162400 hereditary sensory and autonomic neuropathy @@ -425,9 +402,6 @@ MONDO:0009818 autosomal recessive osteopetrosis 3 MONDO:0019026 OMIM:259730 OMIM MONDO:0009823 primary hyperoxaluria type 1 MONDO:0002474 OMIM:259900 OMIMPS:259900 primary hyperoxaluria MONDO:0009824 primary hyperoxaluria type 2 MONDO:0002474 OMIM:260000 OMIMPS:259900 primary hyperoxaluria MONDO:0009830 parkinsonian-pyramidal syndrome MONDO:0005180 OMIM:260300 OMIMPS:168600 Parkinson disease -MONDO:0009865 glycogen storage disease due to phosphoglycerate mutase deficiency MONDO:0002412 OMIM:261670 OMIMPS:232200 disorder of glycogen metabolism -MONDO:0009867 lethal congenital glycogen storage disease of heart MONDO:0002412 OMIM:261740 OMIMPS:232200 disorder of glycogen metabolism -MONDO:0009868 glycogen storage disease IXb MONDO:0002412 OMIM:261750 OMIMPS:232200 disorder of glycogen metabolism MONDO:0009876 isolated growth hormone deficiency type IA MONDO:0000050 OMIM:262400 OMIMPS:262400 isolated congenital growth hormone deficiency MONDO:0009880 short stature-pituitary and cerebellar defects-small sella turcica syndrome MONDO:0013099 OMIM:262700 OMIMPS:613038 combined pituitary hormone deficiencies, genetic form MONDO:0009885 Scott syndrome MONDO:0000009 OMIM:262890 OMIMPS:231200 inherited bleeding disorder, platelet-type @@ -441,7 +415,6 @@ MONDO:0009960 inflammatory bowel disease 1 MONDO:0005265 OMIM:266600 OMIMPS:2666 MONDO:0009962 Senior-Loken syndrome 1 MONDO:0017842 OMIM:266900 OMIMPS:266900 Senior-Loken syndrome MONDO:0009964 short-rib thoracic dysplasia 9 with or without polydactyly MONDO:0018770 OMIM:266920 OMIMPS:208500 Jeune syndrome MONDO:0009966 NPHP3-related Meckel-like syndrome MONDO:0018921 OMIM:267010 OMIMPS:249000 Meckel syndrome -MONDO:0009973 reticular dysgenesis MONDO:0031520 OMIM:267500 OMIMPS:601457 familial severe combined immunodeficiency MONDO:0009974 familial hemophagocytic lymphohistiocytosis type 1 MONDO:0015541 OMIM:267700 OMIMPS:267700 hereditary hemophagocytic lymphohistiocytosis MONDO:0009990 Revesz syndrome MONDO:0015780 OMIM:268130 OMIMPS:127550 dyskeratosis congenita MONDO:0009999 autosomal recessive Robinow syndrome MONDO:0019978 OMIM:268310 OMIMPS:268310 Robinow syndrome @@ -508,7 +481,6 @@ MONDO:0010306 X-linked intellectual disability, Cabezas type MONDO:0020119 OMIM: MONDO:0010307 intellectual disability, X-linked 73 MONDO:0019181 OMIM:300355 OMIMPS:309530 non-syndromic X-linked intellectual disability MONDO:0010309 intellectual disability, X-linked 42 MONDO:0019181 OMIM:300372 OMIMPS:309530 non-syndromic X-linked intellectual disability MONDO:0010313 intellectual disability, X-linked 63 MONDO:0019181 OMIM:300387 OMIMPS:309530 non-syndromic X-linked intellectual disability -MONDO:0010315 T-B+ severe combined immunodeficiency due to gamma chain deficiency MONDO:0031520 OMIM:300400 OMIMPS:601457 familial severe combined immunodeficiency MONDO:0010316 FG syndrome 3 MONDO:0002010 OMIM:300406 OMIMPS:305400 FG syndrome MONDO:0010317 intellectual disability, X-linked, with or without seizures, arx-related MONDO:0019181 OMIM:300419 OMIMPS:309530 non-syndromic X-linked intellectual disability MONDO:0010318 FG syndrome 4 MONDO:0002010 OMIM:300422 OMIMPS:305400 FG syndrome @@ -522,7 +494,6 @@ MONDO:0010329 intellectual disability, X-linked 77 MONDO:0019181 OMIM:300454 OMI MONDO:0010333 corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome MONDO:0020119 OMIM:300472 OMIMPS:309510 X-linked syndromic intellectual disability MONDO:0010336 orofaciodigital syndrome VIII MONDO:0015375 OMIM:300484 OMIMPS:311200 orofaciodigital syndrome MONDO:0010337 X-linked intellectual disability-cerebellar hypoplasia syndrome MONDO:0020119 OMIM:300486 OMIMPS:309510 X-linked syndromic intellectual disability -MONDO:0010339 epilepsy, X-linked 1, with variable learning disabilities and behavior disorders MONDO:0859390 OMIM:300491 OMIMPS:300491 epilepsy, X-linked, with or without impaired intellectual development and dysmorphic features MONDO:0010341 autism, susceptibility to, X-linked 2 MONDO:0020836 OMIM:300495 OMIMPS:209850 autism, susceptiblity to MONDO:0010342 autism, susceptibility to, X-linked 3 MONDO:0020836 OMIM:300496 OMIMPS:209850 autism, susceptiblity to MONDO:0010344 intellectual disability, X-linked 45 MONDO:0019181 OMIM:300498 OMIMPS:309530 non-syndromic X-linked intellectual disability @@ -534,7 +505,6 @@ MONDO:0010352 intellectual disability, X-linked 82 MONDO:0019181 OMIM:300518 OMI MONDO:0010355 syndromic X-linked intellectual disability Claes-Jensen type MONDO:0020119 OMIM:300534 OMIMPS:309510 X-linked syndromic intellectual disability MONDO:0010359 Dent disease type 2 MONDO:0015612 OMIM:300555 OMIMPS:300009 Dent disease MONDO:0010361 intellectual disability, X-linked 30 MONDO:0019181 OMIM:300558 OMIMPS:309530 non-syndromic X-linked intellectual disability -MONDO:0010362 glycogen storage disease IXd MONDO:0002412 OMIM:300559 OMIMPS:232200 disorder of glycogen metabolism MONDO:0010363 intellectual disability, X-linked 91 MONDO:0019181 OMIM:300577 OMIMPS:309530 non-syndromic X-linked intellectual disability MONDO:0010366 FG syndrome 5 MONDO:0002010 OMIM:300581 OMIMPS:305400 FG syndrome MONDO:0010369 nystagmus 5, congenital, X-linked MONDO:0005712 OMIM:300589 OMIMPS:310700 congenital nystagmus @@ -624,7 +594,6 @@ MONDO:0010574 syndromic X-linked intellectual disability 5 MONDO:0020119 OMIM:30 MONDO:0010588 exudative vitreoretinopathy 2, X-linked MONDO:0019516 OMIM:305390 OMIMPS:133780 exudative vitreoretinopathy MONDO:0010589 Aarskog-Scott syndrome, X-linked MONDO:0002010 OMIM:305400 OMIMPS:305400 FG syndrome MONDO:0010600 granulomatous disease, chronic, X-linked MONDO:0018305 OMIM:306400 OMIMPS:306400 chronic granulomatous disease -MONDO:0010606 hernia, anterior diaphragmatic MONDO:0005711 OMIM:306950 OMIMPS:142340 congenital diaphragmatic hernia MONDO:0010607 heterotaxy, visceral, 1, X-linked MONDO:0018677 OMIM:306955 OMIMPS:306955 visceral heterotaxy MONDO:0010611 X-linked hydrocephalus with stenosis of the aqueduct of Sylvius MONDO:0016349 OMIM:307000 OMIMPS:236600 congenital hydrocephalus MONDO:0010615 isolated growth hormone deficiency type III MONDO:0000050 OMIM:307200 OMIMPS:262400 isolated congenital growth hormone deficiency @@ -637,7 +606,6 @@ MONDO:0010656 intellectual disability, X-linked 1 MONDO:0019181 OMIM:309530 OMIM MONDO:0010657 methylmalonic acidemia with homocystinuria, type cblX MONDO:0016826 OMIM:309541 OMIMPS:277400 methylmalonic aciduria and homocystinuria MONDO:0010657 methylmalonic acidemia with homocystinuria, type cblX MONDO:0019181 OMIM:309541 OMIMPS:309530 non-syndromic X-linked intellectual disability MONDO:0010658 syndromic X-linked intellectual disability 12 MONDO:0020119 OMIM:309545 OMIMPS:309510 X-linked syndromic intellectual disability -MONDO:0010659 FRAXE intellectual disability MONDO:0019181 OMIM:309548 OMIMPS:309530 non-syndromic X-linked intellectual disability MONDO:0010660 intellectual disability, X-linked 9 MONDO:0019181 OMIM:309549 OMIMPS:309530 non-syndromic X-linked intellectual disability MONDO:0010664 syndromic X-linked intellectual disability Snyder type MONDO:0020119 OMIM:309583 OMIMPS:309510 X-linked syndromic intellectual disability MONDO:0010665 Wilson-Turner syndrome MONDO:0020119 OMIM:309585 OMIMPS:309510 X-linked syndromic intellectual disability @@ -649,7 +617,7 @@ MONDO:0010685 myopia 1, X-linked MONDO:0001384 OMIM:310460 OMIMPS:160700 myopia MONDO:0010693 nystagmus 1, congenital, X-linked MONDO:0005712 OMIM:310700 OMIMPS:310700 congenital nystagmus MONDO:0010698 optic atrophy 2 MONDO:0043878 OMIM:311050 OMIMPS:165500 hereditary optic atrophy MONDO:0010706 premature ovarian failure 1 MONDO:0019852 OMIM:311360 OMIMPS:311360 inherited primary ovarian failure -MONDO:0010714 Pelizaeus-Merzbacher disease MONDO:0019046 OMIM:312080 OMIMPS:312080 leukodystrophy +MONDO:0010714 Pelizeaus-Merzbacher spectrum disorder MONDO:0019046 OMIM:312080 OMIMPS:312080 leukodystrophy MONDO:0010717 pyruvate dehydrogenase E1-alpha deficiency MONDO:0019169 OMIM:312170 OMIMPS:312170 pyruvate dehydrogenase deficiency MONDO:0010723 retinitis pigmentosa 2 MONDO:0019200 OMIM:312600 OMIMPS:268000 retinitis pigmentosa MONDO:0010733 hereditary spastic paraplegia 2 MONDO:0019064 OMIM:312920 OMIMPS:303350 hereditary spastic paraplegia @@ -671,8 +639,6 @@ MONDO:0010827 retinitis pigmentosa 14 MONDO:0019200 OMIM:600132 OMIMPS:268000 re MONDO:0010828 retinitis pigmentosa 11 MONDO:0019200 OMIM:600138 OMIMPS:268000 retinitis pigmentosa MONDO:0010832 Bardet-Biedl syndrome 3 MONDO:0015229 OMIM:600151 OMIMPS:209900 Bardet-Biedl syndrome MONDO:0010836 nanophthalmos 1 MONDO:0005514 OMIM:600165 OMIMPS:600165 nanophthalmia -MONDO:0010839 neuronopathy, distal hereditary motor, autosomal dominant 8 MONDO:0015362 OMIM:600175 OMIMPS:182960 neuronopathy, distal hereditary motor, autosomal dominant -MONDO:0010846 exostoses, multiple, type III MONDO:0005508 OMIM:600209 OMIMPS:133700 hereditary multiple osteochondromas MONDO:0010860 autosomal recessive nonsyndromic hearing loss 3 MONDO:0019588 OMIM:600316 OMIMPS:220290 hearing loss, autosomal recessive MONDO:0010878 hereditary spastic paraplegia 6 MONDO:0019064 OMIM:600363 OMIMPS:303350 hereditary spastic paraplegia MONDO:0010880 telangiectasia, hereditary hemorrhagic, type 2 MONDO:0019180 OMIM:600376 OMIMPS:187300 hereditary hemorrhagic telangiectasia @@ -685,7 +651,6 @@ MONDO:0010915 autosomal dominant nonsyndromic hearing loss 4A MONDO:0019587 OMIM MONDO:0010926 familial hypocalciuric hypercalcemia 3 MONDO:0018458 OMIM:600740 OMIMPS:145980 familial hypocalciuric hypercalcemia MONDO:0010933 autosomal recessive nonsyndromic hearing loss 4 MONDO:0019588 OMIM:600791 OMIMPS:220290 hearing loss, autosomal recessive MONDO:0010936 frontotemporal dementia and/or amyotrophic lateral sclerosis 7 MONDO:0005144 OMIM:600795 OMIMPS:105400 familial amyotrophic lateral sclerosis -MONDO:0010938 T-B+ severe combined immunodeficiency due to JAK3 deficiency MONDO:0031520 OMIM:600802 OMIMPS:601457 familial severe combined immunodeficiency MONDO:0010939 low phospholipid associated cholelithiasis MONDO:0700225 OMIM:600803 OMIMPS:600803 hereditary gallbladder disorder MONDO:0010945 retinitis pigmentosa 17 MONDO:0019200 OMIM:600852 OMIMPS:268000 retinitis pigmentosa MONDO:0010946 hypertrophic cardiomyopathy 6 MONDO:0024573 OMIM:600858 OMIMPS:192600 familial hypertrophic cardiomyopathy @@ -723,7 +688,6 @@ MONDO:0011070 van Maldergem syndrome 1 MONDO:0017813 OMIM:601390 OMIMPS:601390 v MONDO:0011074 autosomal dominant nonsyndromic hearing loss 7 MONDO:0019587 OMIM:601412 OMIMPS:124900 autosomal dominant nonsyndromic hearing loss MONDO:0011075 retinitis pigmentosa 18 MONDO:0019200 OMIM:601414 OMIMPS:268000 retinitis pigmentosa MONDO:0011076 myofibrillar myopathy 1 MONDO:0018943 OMIM:601419 OMIMPS:601419 myofibrillar myopathy -MONDO:0011086 severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive MONDO:0031520 OMIM:601457 OMIMPS:601457 familial severe combined immunodeficiency MONDO:0011087 inflammatory bowel disease 2 MONDO:0005265 OMIM:601458 OMIMPS:266600 inflammatory bowel disease MONDO:0011093 mucopolysaccharidosis type 9 MONDO:0019249 OMIM:601492 OMIMPS:607014 mucopolysaccharidosis MONDO:0011094 dilated cardiomyopathy 1C MONDO:0018901 OMIM:601493 OMIMPS:604169 left ventricular noncompaction @@ -738,7 +702,6 @@ MONDO:0011121 paragangliomas 2 MONDO:0000448 OMIM:601650 OMIMPS:168000 paragangl MONDO:0011136 Quebec platelet disorder MONDO:0000009 OMIM:601709 OMIMPS:231200 inherited bleeding disorder, platelet-type MONDO:0011137 retinitis pigmentosa 19 MONDO:0019200 OMIM:601718 OMIMPS:268000 retinitis pigmentosa MONDO:0011143 cone-rod dystrophy 6 MONDO:0015993 OMIM:601777 OMIMPS:120970 cone-rod dystrophy -MONDO:0011151 exudative vitreoretinopathy 4 MONDO:0019516 OMIM:601813 OMIMPS:133780 exudative vitreoretinopathy MONDO:0011156 progressive familial intrahepatic cholestasis type 2 MONDO:0015762 OMIM:601847 OMIMPS:211600 progressive familial intrahepatic cholestasis MONDO:0011159 autosomal dominant nonsyndromic hearing loss 13 MONDO:0019587 OMIM:601868 OMIMPS:124900 autosomal dominant nonsyndromic hearing loss MONDO:0011160 autosomal recessive nonsyndromic hearing loss 15 MONDO:0019588 OMIM:601869 OMIMPS:220290 hearing loss, autosomal recessive @@ -761,7 +724,6 @@ MONDO:0011214 progressive familial intrahepatic cholestasis type 3 MONDO:0015762 MONDO:0011218 autosomal recessive congenital ichthyosis 11 MONDO:0017265 OMIM:602400 OMIMPS:242300 autosomal recessive congenital ichthyosis MONDO:0011219 Fried's tooth and nail syndrome MONDO:0019287 OMIM:602401 OMIMPS:305100 ectodermal dysplasia syndrome MONDO:0011223 amyotrophic lateral sclerosis type 4 MONDO:0005144 OMIM:602433 OMIMPS:105400 familial amyotrophic lateral sclerosis -MONDO:0011225 severe combined immunodeficiency due to DCLRE1C deficiency MONDO:0031520 OMIM:602450 OMIMPS:601457 familial severe combined immunodeficiency MONDO:0011226 autosomal dominant nonsyndromic hearing loss 15 MONDO:0019587 OMIM:602459 OMIMPS:124900 autosomal dominant nonsyndromic hearing loss MONDO:0011232 migraine, familial hemiplegic, 2 MONDO:0000700 OMIM:602481 OMIMPS:141500 familial hemiplegic migraine MONDO:0011233 Axenfeld-Rieger syndrome type 3 MONDO:0019187 OMIM:602482 OMIMPS:180500 Axenfeld-Rieger syndrome @@ -792,7 +754,6 @@ MONDO:0011325 Fanconi anemia complementation group F MONDO:0019391 OMIM:603467 O MONDO:0011335 spondyloepimetaphyseal dysplasia with multiple dislocations MONDO:0019675 OMIM:603546 OMIMPS:271640 spondyloepimetaphyseal dysplasia with joint laxity MONDO:0011336 familial hemophagocytic lymphohistiocytosis 4 MONDO:0015541 OMIM:603552 OMIMPS:267700 hereditary hemophagocytic lymphohistiocytosis MONDO:0011337 familial hemophagocytic lymphohistiocytosis 2 MONDO:0015541 OMIM:603553 OMIMPS:267700 hereditary hemophagocytic lymphohistiocytosis -MONDO:0011338 Omenn syndrome MONDO:0031520 OMIM:603554 OMIMPS:601457 familial severe combined immunodeficiency MONDO:0011342 SLC35A1-congenital disorder of glycosylation MONDO:0005501 OMIM:603585 OMIMPS:212066 congenital disorder of glycosylation type II MONDO:0011346 xanthinuria type II MONDO:0018106 OMIM:603592 OMIMPS:278300 hereditary xanthinuria MONDO:0011350 autosomal dominant nonsyndromic hearing loss 17 MONDO:0019587 OMIM:603622 OMIMPS:124900 autosomal dominant nonsyndromic hearing loss @@ -819,7 +780,6 @@ MONDO:0011421 mitochondrial complex V (ATP synthase) deficiency, nuclear type 1 MONDO:0011423 autosomal recessive limb-girdle muscular dystrophy type 2E MONDO:0015152 OMIM:604286 OMIMPS:253600 autosomal recessive limb-girdle muscular dystrophy MONDO:0011425 dilated cardiomyopathy 1H MONDO:0016333 OMIM:604288 OMIMPS:115200 familial dilated cardiomyopathy MONDO:0011435 microcephaly 2, primary, autosomal recessive, with or without cortical malformations MONDO:0016660 OMIM:604317 OMIMPS:251200 autosomal recessive primary microcephaly -MONDO:0011436 autosomal recessive distal spinal muscular atrophy 1 MONDO:0015363 OMIM:604320 OMIMPS:604320 neuronopathy, distal hereditary motor, autosomal recessive MONDO:0011437 microcephaly 4, primary, autosomal recessive MONDO:0016660 OMIM:604321 OMIMPS:251200 autosomal recessive primary microcephaly MONDO:0011442 advanced sleep phase syndrome 1 MONDO:0015609 OMIM:604348 OMIMPS:604348 advanced sleep phase syndrome MONDO:0011443 febrile seizures, familial, 4 MONDO:0000032 OMIM:604352 OMIMPS:121210 febrile seizures, familial @@ -869,10 +829,8 @@ MONDO:0011566 abdominal obesity-metabolic syndrome quantitative trait locus 2 MO MONDO:0011567 dilated cardiomyopathy 1K MONDO:0016333 OMIM:605582 OMIMPS:115200 familial dilated cardiomyopathy MONDO:0011568 autosomal dominant nonsyndromic hearing loss 25 MONDO:0019587 OMIM:605583 OMIMPS:124900 autosomal dominant nonsyndromic hearing loss MONDO:0011576 familial hyperaldosteronism type II MONDO:0016525 OMIM:605635 OMIMPS:103900 familial hyperaldosteronism -MONDO:0011577 myopathy, proximal, and ophthalmoplegia MONDO:0019952 OMIM:605637 OMIMPS:117000 congenital myopathy MONDO:0011582 multiple mitochondrial dysfunctions syndrome 1 MONDO:0017338 OMIM:605711 OMIMPS:605711 fatal multiple mitochondrial dysfunctions syndrome MONDO:0011584 Fanconi anemia complementation group D1 MONDO:0019391 OMIM:605724 OMIMPS:227650 Fanconi anemia -MONDO:0011585 autosomal recessive distal spinal muscular atrophy 2 MONDO:0015363 OMIM:605726 OMIMPS:604320 neuronopathy, distal hereditary motor, autosomal recessive MONDO:0011586 otosclerosis 2 MONDO:0005349 OMIM:605727 OMIMPS:166800 otosclerosis MONDO:0011588 platelet-type bleeding disorder 12 MONDO:0000009 OMIM:605735 OMIMPS:231200 inherited bleeding disorder, platelet-type MONDO:0011589 microphthalmia with coloboma 2 MONDO:0000170 OMIM:605738 OMIMPS:300345 microphthalmia, isolated, with coloboma @@ -925,7 +883,6 @@ MONDO:0011762 autosomal recessive nonsyndromic hearing loss 22 MONDO:0019588 OMI MONDO:0011765 multiple epiphyseal dysplasia type 5 MONDO:0016648 OMIM:607078 OMIMPS:132400 multiple epiphyseal dysplasia MONDO:0011767 autosomal recessive nonsyndromic hearing loss 31 MONDO:0019588 OMIM:607084 OMIMPS:220290 hearing loss, autosomal recessive MONDO:0011770 aortic aneurysm, familial thoracic 2 MONDO:0019625 OMIM:607087 OMIMPS:607086 familial thoracic aortic aneurysm and aortic dissection -MONDO:0011771 neuronopathy, distal hereditary motor, autosomal recessive 3 MONDO:0015363 OMIM:607088 OMIMPS:604320 neuronopathy, distal hereditary motor, autosomal recessive MONDO:0011772 B4GALT1-congenital disorder of glycosylation MONDO:0005501 OMIM:607091 OMIMPS:212066 congenital disorder of glycosylation type II MONDO:0011774 autosomal recessive nonsyndromic hearing loss 30 MONDO:0019588 OMIM:607101 OMIMPS:220290 hearing loss, autosomal recessive MONDO:0011780 specific language impairment 3 MONDO:0000724 OMIM:607134 OMIMPS:606711 specific language impairment @@ -972,7 +929,6 @@ MONDO:0011906 congenital bile acid synthesis defect 1 MONDO:0018841 OMIM:607765 MONDO:0011912 autosomal recessive nonsyndromic hearing loss 37 MONDO:0019588 OMIM:607821 OMIMPS:220290 hearing loss, autosomal recessive MONDO:0011915 mitral valve prolapse, myxomatous 2 MONDO:0008004 OMIM:607829 OMIMPS:157700 familial mitral valve prolapse MONDO:0011920 autosomal dominant nonsyndromic hearing loss 48 MONDO:0019587 OMIM:607841 OMIMPS:124900 autosomal dominant nonsyndromic hearing loss -MONDO:0011924 panic disorder 2 MONDO:0031240 OMIM:607853 OMIMPS:167870 familial panic disorder MONDO:0011930 epilepsy, familial adult myoclonic, 2 MONDO:0000160 OMIM:607876 OMIMPS:601068 epilepsy, familial adult myoclonic MONDO:0011932 hypotrichosis 6 MONDO:0003037 OMIM:607903 OMIMPS:605389 hypotrichosis MONDO:0011933 ALG2-congenital disorder of glycosylation MONDO:0005500 OMIM:607906 OMIMPS:212065 congenital disorder of glycosylation type I @@ -986,8 +942,8 @@ MONDO:0011950 infantile-onset autosomal recessive nonprogressive cerebellar atax MONDO:0011951 amyotrophic lateral sclerosis type 6 MONDO:0005144 OMIM:608030 OMIMPS:105400 familial amyotrophic lateral sclerosis MONDO:0011952 amyotrophic lateral sclerosis type 7 MONDO:0005144 OMIM:608031 OMIMPS:105400 familial amyotrophic lateral sclerosis MONDO:0011953 familial acute necrotizing encephalopathy MONDO:0000166 OMIM:608033 OMIMPS:610551 encephalopathy, acute, infection-induced +MONDO:0011954 melanoma, cutaneous malignant, susceptibility to, 4 MONDO:0024462 OMIM:608035 OMIMPS:155600 susceptibility to familial cutaneous melanoma MONDO:0011956 autism, susceptibility to, 3 MONDO:0020836 OMIM:608049 OMIMPS:209850 autism, susceptiblity to -MONDO:0011957 retinal macular dystrophy type 2 MONDO:0031166 OMIM:608051 OMIMPS:136550 macular dystrophy, retinal MONDO:0011963 Joubert syndrome 2 MONDO:0018772 OMIM:608091 OMIMPS:213300 Joubert syndrome MONDO:0011964 DPAGT1-congenital disorder of glycosylation MONDO:0005500 OMIM:608093 OMIMPS:212065 congenital disorder of glycosylation type I MONDO:0011965 familial temporal lobe epilepsy 2 MONDO:0005115 OMIM:608096 OMIMPS:600512 temporal lobe epilepsy @@ -1055,18 +1011,17 @@ MONDO:0012123 congenital disorder of glycosylation type 1E MONDO:0005500 OMIM:60 MONDO:0012127 autosomal recessive limb-girdle muscular dystrophy type 2J MONDO:0015152 OMIM:608807 OMIMPS:253600 autosomal recessive limb-girdle muscular dystrophy MONDO:0012135 restless legs syndrome, susceptibility to, 2 MONDO:0100170 OMIM:608831 OMIMPS:102300 restless legs syndrome, susceptibility to MONDO:0012138 muscular dystrophy-dystroglycanopathy type B6 MONDO:0000172 OMIM:608840 OMIMPS:613155 muscular dystrophy-dystroglycanopathy, type B -MONDO:0012139 macular dystrophy, retinal, 3 MONDO:0031166 OMIM:608850 OMIMPS:136550 macular dystrophy, retinal MONDO:0012145 macular degeneration, age-related, 3 MONDO:0005150 OMIM:608895 OMIMPS:603075 age-related macular degeneration MONDO:0012146 familial hemophagocytic lymphohistiocytosis 3 MONDO:0015541 OMIM:608898 OMIMPS:267700 hereditary hemophagocytic lymphohistiocytosis MONDO:0012154 myopia 6 MONDO:0001384 OMIM:608908 OMIMPS:160700 myopia MONDO:0012158 keratoconus 2 MONDO:0015486 OMIM:608932 OMIMPS:148300 keratoconus MONDO:0012162 patterned macular dystrophy 2 MONDO:0020381 OMIM:608970 OMIMPS:169150 patterned macular dystrophy -MONDO:0012163 immunodeficiency 104 MONDO:0031520 OMIM:608971 OMIMPS:601457 familial severe combined immunodeficiency MONDO:0012167 atrial fibrillation, familial, 2 MONDO:0018054 OMIM:608988 OMIMPS:608583 familial atrial fibrillation MONDO:0012169 premature ovarian failure 3 MONDO:0019852 OMIM:608996 OMIMPS:311360 inherited primary ovarian failure MONDO:0012170 autosomal recessive nonsyndromic hearing loss 36 MONDO:0019588 OMIM:609006 OMIMPS:220290 hearing loss, autosomal recessive MONDO:0012175 cataract 28 MONDO:0005129 OMIM:609026 OMIMPS:116200 cataract MONDO:0012180 arrhythmogenic right ventricular dysplasia 9 MONDO:0016342 OMIM:609040 OMIMPS:107970 familial isolated arrhythmogenic right ventricular dysplasia +MONDO:0012183 melanoma, cutaneous malignant, susceptibility to, 3 MONDO:0024462 OMIM:609048 OMIMPS:155600 susceptibility to familial cutaneous melanoma MONDO:0012185 spondylometaphyseal dysplasia, A4 type MONDO:0016763 OMIM:609052 OMIMPS:184255 spondylometaphyseal dysplasia MONDO:0012186 Fanconi anemia complementation group I MONDO:0019391 OMIM:609053 OMIMPS:227650 Fanconi anemia MONDO:0012187 Fanconi anemia complementation group J MONDO:0019391 OMIM:609054 OMIMPS:227650 Fanconi anemia @@ -1153,7 +1108,6 @@ MONDO:0012377 asperger syndrome, susceptibility to, 4 MONDO:0100440 OMIM:609954 MONDO:0012378 fibromatosis, gingival, 3 MONDO:0016070 OMIM:609955 OMIMPS:135300 hereditary gingival fibromatosis MONDO:0012380 autosomal dominant nonsyndromic hearing loss 53 MONDO:0019587 OMIM:609965 OMIMPS:124900 autosomal dominant nonsyndromic hearing loss MONDO:0012383 primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency MONDO:0021094 OMIM:609981 OMIMPS:300755 immunodeficiency disease -MONDO:0012384 panic disorder 3 MONDO:0031240 OMIM:609985 OMIMPS:167870 familial panic disorder MONDO:0012388 myopia 11, autosomal dominant MONDO:0001384 OMIM:609994 OMIMPS:160700 myopia MONDO:0012389 myopia 12, autosomal dominant MONDO:0001384 OMIM:609995 OMIMPS:160700 myopia MONDO:0012394 multiple synostoses syndrome 2 MONDO:0017923 OMIM:610017 OMIMPS:186500 multiple synostoses syndrome @@ -1172,7 +1126,6 @@ MONDO:0012425 corneal dystrophy, fuchs endothelial, 2 MONDO:0005321 OMIM:610158 MONDO:0012427 Loeys-Dietz syndrome 2 MONDO:0018954 OMIM:610168 OMIMPS:609192 Loeys-Dietz syndrome MONDO:0012429 Aicardi-Goutieres syndrome 2 MONDO:0018866 OMIM:610181 OMIMPS:225750 Aicardi-Goutieres syndrome MONDO:0012430 cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 2 MONDO:0009133 OMIM:610185 OMIMPS:224050 cerebellar ataxia, intellectual disability, and dysequilibrium -MONDO:0012431 diaphragmatic hernia 3 MONDO:0005711 OMIM:610187 OMIMPS:142340 congenital diaphragmatic hernia MONDO:0012432 Joubert syndrome 5 MONDO:0018772 OMIM:610188 OMIMPS:213300 Joubert syndrome MONDO:0012433 Senior-Loken syndrome 6 MONDO:0017842 OMIM:610189 OMIMPS:266900 Senior-Loken syndrome MONDO:0012434 arrhythmogenic right ventricular dysplasia 10 MONDO:0016342 OMIM:610193 OMIMPS:107970 familial isolated arrhythmogenic right ventricular dysplasia @@ -1254,7 +1207,6 @@ MONDO:0012602 autosomal recessive nonsyndromic hearing loss 24 MONDO:0019588 OMI MONDO:0012603 episodic kinesigenic dyskinesia 2 MONDO:0044202 OMIM:611031 OMIMPS:128200 episodic kinesigenic dyskinesia MONDO:0012604 isolated microphthalmia 3 MONDO:0000062 OMIM:611038 OMIMPS:251600 isolated microphthalmia MONDO:0012605 isolated microphthalmia 5 MONDO:0000062 OMIM:611040 OMIMPS:251600 isolated microphthalmia -MONDO:0012608 neuronopathy, distal hereditary motor, autosomal recessive 4 MONDO:0015363 OMIM:611067 OMIMPS:604320 neuronopathy, distal hereditary motor, autosomal recessive MONDO:0012610 inflammatory bowel disease 10 MONDO:0005265 OMIM:611081 OMIMPS:266600 inflammatory bowel disease MONDO:0012612 intellectual disability, autosomal recessive 12 MONDO:0019502 OMIM:611090 OMIMPS:249500 autosomal recessive non-syndromic intellectual disability MONDO:0012613 intellectual disability, autosomal recessive 5 MONDO:0019502 OMIM:611091 OMIMPS:249500 autosomal recessive non-syndromic intellectual disability @@ -1272,7 +1224,6 @@ MONDO:0012637 COG1-congenital disorder of glycosylation MONDO:0005501 OMIM:61120 MONDO:0012638 microphthalmia-brain atrophy syndrome MONDO:0016073 OMIM:611222 OMIMPS:309800 syndromic microphthalmia MONDO:0012641 restless legs syndrome, susceptibility to, 5 MONDO:0100170 OMIM:611242 OMIMPS:102300 restless legs syndrome, susceptibility to MONDO:0012644 asphyxiating thoracic dystrophy 2 MONDO:0018770 OMIM:611263 OMIMPS:208500 Jeune syndrome -MONDO:0012650 Cernunnos-XLF deficiency MONDO:0031520 OMIM:611291 OMIMPS:601457 familial severe combined immunodeficiency MONDO:0012651 spastic ataxia 2 MONDO:0017845 OMIM:611302 OMIMPS:108600 spastic ataxia MONDO:0012652 autosomal recessive limb-girdle muscular dystrophy type 2L MONDO:0015152 OMIM:611307 OMIMPS:253600 autosomal recessive limb-girdle muscular dystrophy MONDO:0012653 persistent hyperplastic primary vitreous, autosomal dominant MONDO:0019631 OMIM:611308 OMIMPS:221900 persistent hyperplastic primary vitreous @@ -1295,7 +1246,6 @@ MONDO:0012684 arrhythmogenic right ventricular dysplasia 12 MONDO:0016342 OMIM:6 MONDO:0012689 premature ovarian failure 5 MONDO:0019852 OMIM:611548 OMIMPS:311360 inherited primary ovarian failure MONDO:0012690 Noonan syndrome 5 MONDO:0018997 OMIM:611553 OMIMPS:163950 Noonan syndrome MONDO:0012691 LEOPARD syndrome 2 MONDO:0007893 OMIM:611554 OMIMPS:151100 Noonan syndrome with multiple lentigines -MONDO:0012693 glycogen storage disease due to muscle and heart glycogen synthase deficiency MONDO:0002412 OMIM:611556 OMIMPS:232200 disorder of glycogen metabolism MONDO:0012694 Joubert syndrome 7 MONDO:0018772 OMIM:611560 OMIMPS:213300 Joubert syndrome MONDO:0012695 Meckel syndrome, type 5 MONDO:0018921 OMIM:611561 OMIMPS:249000 Meckel syndrome MONDO:0012696 otosclerosis 4 MONDO:0005349 OMIM:611571 OMIMPS:166800 otosclerosis @@ -1363,6 +1313,7 @@ MONDO:0012837 inflammatory bowel disease 15 MONDO:0005265 OMIM:612255 OMIMPS:266 MONDO:0012838 inflammatory bowel disease 16 MONDO:0005265 OMIM:612259 OMIMPS:266600 inflammatory bowel disease MONDO:0012840 inflammatory bowel disease 17 MONDO:0005265 OMIM:612261 OMIMPS:266600 inflammatory bowel disease MONDO:0012841 inflammatory bowel disease 18 MONDO:0005265 OMIM:612262 OMIMPS:266600 inflammatory bowel disease +MONDO:0012842 melanoma, cutaneous malignant, susceptibility to, 7 MONDO:0024462 OMIM:612263 OMIMPS:155600 susceptibility to familial cutaneous melanoma MONDO:0012844 primary ciliary dyskinesia 8 MONDO:0016575 OMIM:612274 OMIMPS:244400 primary ciliary dyskinesia MONDO:0012845 inflammatory bowel disease 19 MONDO:0005265 OMIM:612278 OMIMPS:266600 inflammatory bowel disease MONDO:0012846 generalized epilepsy with febrile seizures plus, type 6 MONDO:0018214 OMIM:612279 OMIMPS:604233 generalized epilepsy with febrile seizures plus @@ -1396,7 +1347,6 @@ MONDO:0012923 congenital generalized lipodystrophy type 3 MONDO:0006536 OMIM:612 MONDO:0012924 Diamond-Blackfan anemia 4 MONDO:0015253 OMIM:612527 OMIMPS:105650 Diamond-Blackfan anemia MONDO:0012925 Diamond-Blackfan anemia 5 MONDO:0015253 OMIM:612528 OMIMPS:105650 Diamond-Blackfan anemia MONDO:0012927 chromosome 1q41-q42 deletion syndrome MONDO:0016296 OMIM:612530 OMIMPS:236100 holoprosencephaly -MONDO:0012929 Compton-North congenital myopathy MONDO:0019952 OMIM:612540 OMIMPS:117000 congenital myopathy MONDO:0012932 myopia 16, autosomal dominant MONDO:0001384 OMIM:612554 OMIMPS:160700 myopia MONDO:0012933 breast-ovarian cancer, familial, susceptibility to, 2 MONDO:0100526 OMIM:612555 OMIMPS:604370 breast-ovarian cancer, familial, susceptibility to MONDO:0012937 Diamond-Blackfan anemia 6 MONDO:0015253 OMIM:612561 OMIMPS:105650 Diamond-Blackfan anemia @@ -1450,8 +1400,6 @@ MONDO:0013031 chromosome 5Q14.3 deletion syndrome, distal MONDO:0020341 OMIM:612 MONDO:0013033 cerebral palsy, spastic quadriplegic, 2 MONDO:0016215 OMIM:612900 OMIMPS:612900 spastic quadriplegic cerebral palsy MONDO:0013035 orofaciodigital syndrome XI MONDO:0015375 OMIM:612913 OMIMPS:311200 orofaciodigital syndrome MONDO:0013039 3M syndrome 2 MONDO:0007477 OMIM:612921 OMIMPS:273750 3-M syndrome -MONDO:0013046 glycogen storage disease due to muscle beta-enolase deficiency MONDO:0002412 OMIM:612932 OMIMPS:232200 disorder of glycogen metabolism -MONDO:0013047 glycogen storage disease due to lactate dehydrogenase M-subunit deficiency MONDO:0002412 OMIM:612933 OMIMPS:232200 disorder of glycogen metabolism MONDO:0013048 hereditary spastic paraplegia 50 MONDO:0019064 OMIM:612936 OMIMPS:303350 hereditary spastic paraplegia MONDO:0013049 DPM3-congenital disorder of glycosylation MONDO:0005500 OMIM:612937 OMIMPS:212065 congenital disorder of glycosylation type I MONDO:0013052 retinitis pigmentosa 42 MONDO:0019200 OMIM:612943 OMIMPS:268000 retinitis pigmentosa @@ -1481,6 +1429,7 @@ MONDO:0013123 atrial septal defect 6 MONDO:0006664 OMIM:613087 OMIMPS:108800 atr MONDO:0013127 asphyxiating thoracic dystrophy 3 MONDO:0018770 OMIM:613091 OMIMPS:208500 Jeune syndrome MONDO:0013128 familial juvenile hyperuricemic nephropathy type 2 MONDO:0000608 OMIM:613092 OMIMPS:162000 familial juvenile hyperuricemic nephropathy MONDO:0013130 isolated microphthalmia 4 MONDO:0000062 OMIM:613094 OMIMPS:251600 isolated microphthalmia +MONDO:0013133 melanoma, cutaneous malignant, susceptibility to, 5 MONDO:0024462 OMIM:613099 OMIMPS:155600 susceptibility to familial cutaneous melanoma MONDO:0013135 familial hemophagocytic lymphohistiocytosis 5 MONDO:0015541 OMIM:613101 OMIMPS:267700 hereditary hemophagocytic lymphohistiocytosis MONDO:0013137 choroidal dystrophy, central areolar 2 MONDO:0008982 OMIM:613105 OMIMPS:215500 central areolar choroidal dystrophy MONDO:0013140 candidiasis, familial, 4 MONDO:0015279 OMIM:613108 OMIMPS:114580 chronic mucocutaneous candidiasis @@ -1532,7 +1481,6 @@ MONDO:0013211 dilated cardiomyopathy 1FF MONDO:0016333 OMIM:613286 OMIMPS:115200 MONDO:0013215 autosomal recessive nonsyndromic hearing loss 79 MONDO:0019588 OMIM:613307 OMIMPS:220290 hearing loss, autosomal recessive MONDO:0013216 Diamond-Blackfan anemia 9 MONDO:0015253 OMIM:613308 OMIMPS:105650 Diamond-Blackfan anemia MONDO:0013217 Diamond-Blackfan anemia 10 MONDO:0015253 OMIM:613309 OMIMPS:105650 Diamond-Blackfan anemia -MONDO:0013218 exudative vitreoretinopathy 5 MONDO:0019516 OMIM:613310 OMIMPS:133780 exudative vitreoretinopathy MONDO:0013221 Miyoshi muscular dystrophy 2 MONDO:0009685 OMIM:613318 OMIMPS:254130 Miyoshi myopathy MONDO:0013222 Miyoshi muscular dystrophy 3 MONDO:0009685 OMIM:613319 OMIMPS:254130 Miyoshi myopathy MONDO:0013223 autosomal recessive spondylometaphyseal dysplasia, Megarbane type MONDO:0016763 OMIM:613320 OMIMPS:184255 spondylometaphyseal dysplasia @@ -1686,6 +1634,7 @@ MONDO:0013505 spermatogenic failure 9 MONDO:0004983 OMIM:613958 OMIMPS:258150 sp MONDO:0013507 granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3 MONDO:0018305 OMIM:613960 OMIMPS:306400 chronic granulomatous disease MONDO:0013508 myopia 19, autosomal dominant MONDO:0001384 OMIM:613969 OMIMPS:160700 myopia MONDO:0013509 intellectual disability, autosomal dominant 6 MONDO:0100172 OMIM:613970 OMIMPS:156200 intellectual disability, autosomal dominant +MONDO:0013510 melanoma, cutaneous malignant, susceptibility to, 6 MONDO:0024462 OMIM:613972 OMIMPS:155600 susceptibility to familial cutaneous melanoma MONDO:0013513 atrial fibrillation, familial, 9 MONDO:0018054 OMIM:613980 OMIMPS:608583 familial atrial fibrillation MONDO:0013514 hypotrichosis 3 MONDO:0003037 OMIM:613981 OMIMPS:605389 hypotrichosis MONDO:0013516 retinitis pigmentosa 60 MONDO:0019200 OMIM:613983 OMIMPS:268000 retinitis pigmentosa @@ -1796,7 +1745,6 @@ MONDO:0013719 cranioectodermal dysplasia 4 MONDO:0009032 OMIM:614378 OMIMPS:2183 MONDO:0013722 hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism MONDO:0019046 OMIM:614381 OMIMPS:312080 leukodystrophy MONDO:0013725 colorectal cancer, hereditary nonpolyposis, type 7 MONDO:0018630 OMIM:614385 OMIMPS:120435 hereditary nonpolyposis colon cancer MONDO:0013726 encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1 MONDO:0054865 OMIM:614388 OMIMPS:614388 encephalopathy due to mitochondrial and peroxisomal fission defect -MONDO:0013731 MEGF10-related myopathy MONDO:0019952 OMIM:614399 OMIMPS:117000 congenital myopathy MONDO:0013734 microphthalmia, syndromic 11 MONDO:0016073 OMIM:614402 OMIMPS:309800 syndromic microphthalmia MONDO:0013738 autosomal recessive nonsyndromic hearing loss 96 MONDO:0019588 OMIM:614414 OMIMPS:220290 hearing loss, autosomal recessive MONDO:0013739 chilblain lupus 2 MONDO:0018827 OMIM:614415 OMIMPS:610448 familial chilblain lupus @@ -1811,6 +1759,7 @@ MONDO:0013752 hypoplastic left heart syndrome 2 MONDO:0004933 OMIM:614435 OMIMPS MONDO:0013755 PYCR1-related de Barsy syndrome MONDO:0100237 OMIM:614438 OMIMPS:123700 inherited cutis laxa MONDO:0013756 hypertrophic osteoarthropathy, primary, autosomal recessive, 2 MONDO:0016620 OMIM:614441 OMIMPS:259100 primary hypertrophic osteoarthropathy MONDO:0013757 congenital nongoitrous hypothryoidism 6 MONDO:0000045 OMIM:614450 OMIMPS:275200 hypothyroidism, congenital, nongoitrous +MONDO:0013759 melanoma, cutaneous malignant, susceptibility to, 8 MONDO:0024462 OMIM:614456 OMIMPS:155600 susceptibility to familial cutaneous melanoma MONDO:0013761 childhood encephalopathy due to thiamine pyrophosphokinase deficiency MONDO:0000152 OMIM:614458 OMIMPS:249270 thiamine-responsive dysfunction syndrome MONDO:0013762 lipoic acid synthetase deficiency MONDO:0019169 OMIM:614462 OMIMPS:312170 pyruvate dehydrogenase deficiency MONDO:0013763 Joubert syndrome 15 MONDO:0018772 OMIM:614464 OMIMPS:213300 Joubert syndrome @@ -1836,11 +1785,11 @@ MONDO:0013790 mirror movements 2 MONDO:0016558 OMIM:614508 OMIMPS:157600 familia MONDO:0013794 thrombocythemia 3 MONDO:0019111 OMIM:614521 OMIMPS:187950 familial thrombocytosis MONDO:0013795 fibrochondrogenesis 2 MONDO:0016068 OMIM:614524 OMIMPS:228520 fibrochondrogenesis MONDO:0013800 Ehlers-Danlos syndrome, kyphoscoliotic and deafness type MONDO:0020066 OMIM:614557 OMIMPS:130000 Ehlers-Danlos syndrome +MONDO:0013805 intellectual disability, autosomal dominant 13 MONDO:0100172 OMIM:614563 OMIMPS:156200 intellectual disability, autosomal dominant MONDO:0013807 congenital stationary night blindness 1E MONDO:0016293 OMIM:614565 OMIMPS:310500 congenital stationary night blindness MONDO:0013810 COG6-ongenital disorder of glycosylation MONDO:0005501 OMIM:614576 OMIMPS:212066 congenital disorder of glycosylation type II MONDO:0013811 combined oxidative phosphorylation defect type 9 MONDO:0000732 OMIM:614582 OMIMPS:609060 combined oxidative phosphorylation deficiency MONDO:0013812 Baraitser-winter syndrome 2 MONDO:0017579 OMIM:614583 OMIMPS:243310 Baraitser-Winter cerebrofrontofacial syndrome -MONDO:0013815 bent bone dysplasia syndrome 1 MONDO:0031615 OMIM:614592 OMIMPS:614592 familial bent bone dysplasia syndrome MONDO:0013817 preeclampsia/eclampsia 5 MONDO:0005081 OMIM:614595 OMIMPS:189800 preeclampsia MONDO:0013818 trichohepatoenteric syndrome 2 MONDO:0009105 OMIM:614602 OMIMPS:222470 trichohepatoenteric syndrome MONDO:0013819 intellectual disability, autosomal dominant 14 MONDO:0015452 OMIM:614607 OMIMPS:135900 Coffin-Siris syndrome @@ -1913,7 +1862,6 @@ MONDO:0013924 osteogenesis imperfecta type 13 MONDO:0019019 OMIM:614856 OMIMPS:1 MONDO:0013925 methylmalonic acidemia with homocystinuria, type cblJ MONDO:0016826 OMIM:614857 OMIMPS:277400 methylmalonic aciduria and homocystinuria MONDO:0013929 autosomal recessive nonsyndromic hearing loss 98 MONDO:0019588 OMIM:614861 OMIMPS:220290 hearing loss, autosomal recessive MONDO:0013940 primary ciliary dyskinesia 18 MONDO:0016575 OMIM:614874 OMIMPS:244400 primary ciliary dyskinesia -MONDO:0013947 neuronopathy, distal hereditary motor, autosomal recessive 5 MONDO:0015363 OMIM:614881 OMIMPS:604320 neuronopathy, distal hereditary motor, autosomal recessive MONDO:0013963 autosomal recessive nonsyndromic hearing loss 93 MONDO:0019588 OMIM:614899 OMIMPS:220290 hearing loss, autosomal recessive MONDO:0013964 Diamond-Blackfan anemia 11 MONDO:0015253 OMIM:614900 OMIMPS:105650 Diamond-Blackfan anemia MONDO:0013965 lethal congenital contracture syndrome 4 MONDO:0017436 OMIM:614915 OMIMPS:253310 lethal congenital contracture syndrome @@ -1966,6 +1914,7 @@ MONDO:0014049 urofacial syndrome 2 MONDO:0000463 OMIM:615112 OMIMPS:236730 Ochoa MONDO:0014050 isolated microphthalmia 8 MONDO:0000062 OMIM:615113 OMIMPS:251600 isolated microphthalmia MONDO:0014054 lymphoproliferative syndrome 2 MONDO:0016537 OMIM:615122 OMIMPS:308240 lymphoproliferative syndrome MONDO:0014055 epilepsy, familial adult myoclonic, 4 MONDO:0000160 OMIM:615127 OMIMPS:601068 epilepsy, familial adult myoclonic +MONDO:0014056 melanoma, cutaneous malignant, susceptibility to, 9 MONDO:0024462 OMIM:615134 OMIMPS:155600 susceptibility to familial cutaneous melanoma MONDO:0014057 maple syrup urine disease, mild variant MONDO:0009563 OMIM:615135 OMIMPS:248600 maple syrup urine disease MONDO:0014059 microphthalmia, isolated, with coloboma 9 MONDO:0000170 OMIM:615145 OMIMPS:300345 microphthalmia, isolated, with coloboma MONDO:0014062 mitochondrial DNA deletion syndrome with progressive myopathy MONDO:0000090 OMIM:615156 OMIMPS:157640 progressive external ophthalmoplegia with mitochondrial DNA deletions @@ -1977,7 +1926,6 @@ MONDO:0014068 cone-rod dystrophy 17 MONDO:0015993 OMIM:615163 OMIMPS:120970 cone MONDO:0014070 oculocutaneous albinism type 7 MONDO:0018910 OMIM:615179 OMIMPS:203100 oculocutaneous albinism MONDO:0014071 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11 MONDO:0000171 OMIM:615181 OMIMPS:236670 muscular dystrophy-dystroglycanopathy, type A MONDO:0014073 dilated cardiomyopathy 1II MONDO:0016333 OMIM:615184 OMIMPS:115200 familial dilated cardiomyopathy -MONDO:0014076 dyskeratosis congenita, autosomal recessive 5 MONDO:0015780 OMIM:615190 OMIMPS:127550 dyskeratosis congenita MONDO:0014078 platelet-type bleeding disorder 15 MONDO:0000009 OMIM:615193 OMIMPS:231200 inherited bleeding disorder, platelet-type MONDO:0014079 restless legs syndrome, susceptibility to, 8 MONDO:0100170 OMIM:615197 OMIMPS:102300 restless legs syndrome, susceptibility to MONDO:0014082 cryptosporidiosis-chronic cholangitis-liver disease syndrome MONDO:0021094 OMIM:615207 OMIMPS:300755 immunodeficiency disease @@ -2096,8 +2044,6 @@ MONDO:0014270 STT3A-congenital disorder of glycosylation MONDO:0005500 OMIM:6155 MONDO:0014271 STT3B-congenital disorder of glycosylation MONDO:0005500 OMIM:615597 OMIMPS:212065 congenital disorder of glycosylation type I MONDO:0014276 combined immunodeficiency due to CD3gamma deficiency MONDO:0021094 OMIM:615607 OMIMPS:300755 immunodeficiency disease MONDO:0014277 developmental dysplasia of the hip 2 MONDO:0000158 OMIM:615612 OMIMPS:142700 developmental dysplasia of the hip -MONDO:0014278 immunodeficiency 18 MONDO:0031520 OMIM:615615 OMIMPS:601457 familial severe combined immunodeficiency -MONDO:0014280 immunodeficiency 19 MONDO:0031520 OMIM:615617 OMIMPS:601457 familial severe combined immunodeficiency MONDO:0014283 autosomal dominant nonsyndromic hearing loss 56 MONDO:0019587 OMIM:615629 OMIMPS:124900 autosomal dominant nonsyndromic hearing loss MONDO:0014284 short-rib thoracic dysplasia 10 with or without polydactyly MONDO:0018770 OMIM:615630 OMIMPS:208500 Jeune syndrome MONDO:0014287 short-rib thoracic dysplasia 11 with or without polydactyly MONDO:0018770 OMIM:615633 OMIMPS:208500 Jeune syndrome @@ -2144,6 +2090,7 @@ MONDO:0014364 mitochondrial complex III deficiency nuclear type 8 MONDO:0020811 MONDO:0014365 spermatogenic failure 13 MONDO:0004983 OMIM:615841 OMIMPS:258150 spermatogenic failure MONDO:0014366 spermatogenic failure 14 MONDO:0004983 OMIM:615842 OMIMPS:258150 spermatogenic failure MONDO:0014367 Aicardi-Goutieres syndrome 7 MONDO:0018866 OMIM:615846 OMIMPS:225750 Aicardi-Goutieres syndrome +MONDO:0014368 tumor predisposition syndrome 3 MONDO:0024462 OMIM:615848 OMIMPS:155600 susceptibility to familial cutaneous melanoma MONDO:0014370 pontocerebellar hypoplasia type 2E MONDO:0020135 OMIM:615851 OMIMPS:607596 pontocerebellar hypoplasia MONDO:0014371 developmental and epileptic encephalopathy, 23 MONDO:0100062 OMIM:615859 OMIMPS:308350 developmental and epileptic encephalopathy MONDO:0014372 cone-rod dystrophy 19 MONDO:0015993 OMIM:615860 OMIMPS:120970 cone-rod dystrophy @@ -2263,6 +2210,7 @@ MONDO:0014595 developmental and epileptic encephalopathy, 30 MONDO:0100062 OMIM: MONDO:0014596 lissencephaly 7 with cerebellar hypoplasia MONDO:0018838 OMIM:616342 OMIMPS:607432 lissencephaly spectrum disorders MONDO:0014600 dyskeratosis congenita, autosomal recessive 6 MONDO:0015780 OMIM:616353 OMIMPS:127550 dyskeratosis congenita MONDO:0014601 autosomal recessive spinocerebellar ataxia 20 MONDO:0015244 OMIM:616354 OMIMPS:213200 autosomal recessive cerebellar ataxia +MONDO:0014602 intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome MONDO:0100172 OMIM:616355 OMIMPS:156200 intellectual disability, autosomal dominant MONDO:0014603 autosomal dominant nonsyndromic hearing loss 40 MONDO:0019587 OMIM:616357 OMIMPS:124900 autosomal dominant nonsyndromic hearing loss MONDO:0014606 intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome MONDO:0100172 OMIM:616364 OMIMPS:156200 intellectual disability, autosomal dominant MONDO:0014611 multiple mitochondrial dysfunctions syndrome 4 MONDO:0017338 OMIM:616370 OMIMPS:605711 fatal multiple mitochondrial dysfunctions syndrome @@ -2351,7 +2299,6 @@ MONDO:0014779 Wilms tumor 6 MONDO:0003321 OMIM:616806 OMIMPS:194070 hereditary W MONDO:0014780 hyperphosphatasia with intellectual disability syndrome 6 MONDO:0016596 OMIM:616809 OMIMPS:239300 hyperphosphatasia-intellectual disability syndrome MONDO:0014781 combined oxidative phosphorylation deficiency 29 MONDO:0000732 OMIM:616811 OMIMPS:609060 combined oxidative phosphorylation deficiency MONDO:0014782 autosomal recessive limb-girdle muscular dystrophy type 2X MONDO:0015152 OMIM:616812 OMIMPS:253600 autosomal recessive limb-girdle muscular dystrophy -MONDO:0014785 microcephaly, short stature, and impaired glucose metabolism 2 MONDO:0800450 OMIM:616817 OMIMPS:616033 microcephaly, short stature, and impaired glucose metabolism MONDO:0014788 autosomal recessive limb-girdle muscular dystrophy type 2W MONDO:0015152 OMIM:616827 OMIMPS:253600 autosomal recessive limb-girdle muscular dystrophy MONDO:0014789 CCDC115-CDG MONDO:0005501 OMIM:616828 OMIMPS:212066 congenital disorder of glycosylation type II MONDO:0014790 TMEM199-CDG MONDO:0005501 OMIM:616829 OMIMPS:212066 congenital disorder of glycosylation type II @@ -2447,7 +2394,6 @@ MONDO:0014967 heterotaxy, visceral, 8, autosomal MONDO:0018677 OMIM:617205 OMIMP MONDO:0014970 spermatogenic failure 17 MONDO:0004983 OMIM:617214 OMIMPS:258150 spermatogenic failure MONDO:0014976 lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome MONDO:0000732 OMIM:617228 OMIMPS:609060 combined oxidative phosphorylation deficiency MONDO:0014977 autosomal recessive limb-girdle muscular dystrophy type 2R1 MONDO:0015152 OMIM:617232 OMIMPS:253600 autosomal recessive limb-girdle muscular dystrophy -MONDO:0014981 immunodeficiency 49 MONDO:0031520 OMIM:617237 OMIMPS:601457 familial severe combined immunodeficiency MONDO:0014982 myopia 25, autosomal dominant MONDO:0001384 OMIM:617238 OMIMPS:160700 myopia MONDO:0014983 congenital myasthenic syndrome 21 MONDO:0018940 OMIM:617239 OMIMPS:601462 congenital myasthenic syndrome MONDO:0014985 Fanconi anemia complementation group V MONDO:0019391 OMIM:617243 OMIMPS:227650 Fanconi anemia @@ -2485,13 +2431,10 @@ MONDO:0016368 Rothmund-Thomson syndrome type 1 MONDO:0010002 OMIM:618625 OMIMPS: MONDO:0016369 Rothmund-Thomson syndrome type 2 MONDO:0010002 OMIM:268400 OMIMPS:268400 Rothmund-Thomson syndrome MONDO:0016675 distal arthrogryposis type 10 MONDO:0019942 OMIM:187370 OMIMPS:108120 distal arthrogryposis MONDO:0016862 Alagille syndrome due to a JAG1 point mutation MONDO:0007318 OMIM:118450 OMIMPS:118450 Alagille syndrome +MONDO:0018130 brain dopamine-serotonin vesicular transport disease MONDO:0013150 OMIM:618049 OMIMPS:613135 parkinsonism-dystonia, infantile MONDO:0018264 oculocutaneous albinism type 6 MONDO:0018910 OMIM:113750 OMIMPS:203100 oculocutaneous albinism MONDO:0018828 pseudo-TORCH syndrome 2 MONDO:0009626 OMIM:617397 OMIMPS:251290 pseudo-TORCH syndrome -MONDO:0018931 mucolipidosis type III, alpha/beta MONDO:0031422 OMIM:252600 OMIMPS:256550 familial mucolipidosis MONDO:0018996 spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 MONDO:0020771 OMIM:606002 OMIMPS:607250 spinocerebellar ataxia, autosomal recessive, with axonal neuropathy -MONDO:0019148 Wolman disease MONDO:0800449 OMIM:620151 OMIMPS:278000 lysosomal acid lipase deficiency -MONDO:0019149 cholesteryl ester storage disease MONDO:0800449 OMIM:278000 OMIMPS:278000 lysosomal acid lipase deficiency -MONDO:0020507 leukoencephalopathy with vanishing white matter 1 MONDO:0800448 OMIM:603896 OMIMPS:603896 leukoencephalopathy with vanishing white matter MONDO:0020607 Liddle syndrome 1 MONDO:0008323 OMIM:177200 OMIMPS:177200 Liddle syndrome MONDO:0020628 microcephaly, growth restriction, and increased sister chromatid exchange 2 MONDO:0020629 OMIM:618097 OMIMPS:210900 microcephaly, growth restriction and increased sister chromatid exchange MONDO:0020712 46,XY sex reversal 1 MONDO:0010765 OMIM:400044 OMIMPS:400044 46,XY complete gonadal dysgenesis @@ -2663,7 +2606,6 @@ MONDO:0029142 hearing loss, autosomal recessive 111 MONDO:0019588 OMIM:618145 OM MONDO:0029145 orofacial cleft 8 MONDO:0000358 OMIM:618149 OMIMPS:119530 orofacial cleft MONDO:0029147 spermatogenic failure 33 MONDO:0004983 OMIM:618152 OMIMPS:258150 spermatogenic failure MONDO:0029148 spermatogenic failure 34 MONDO:0004983 OMIM:618153 OMIMPS:258150 spermatogenic failure -MONDO:0029465 intellectual developmental disorder, autosomal dominant 69 MONDO:0100172 OMIM:617863 OMIMPS:156200 intellectual disability, autosomal dominant MONDO:0030004 autism, susceptibility to, 20 MONDO:0020836 OMIM:618830 OMIMPS:209850 autism, susceptiblity to MONDO:0030006 combined oxidative phosphorylation deficiency 40 MONDO:0000732 OMIM:618835 OMIMPS:609060 combined oxidative phosphorylation deficiency MONDO:0030007 combined oxidative phosphorylation deficiency 41 MONDO:0000732 OMIM:618838 OMIMPS:609060 combined oxidative phosphorylation deficiency @@ -2682,7 +2624,6 @@ MONDO:0030034 epilepsy, progressive myoclonic, 11 MONDO:0020074 OMIM:618876 OMIM MONDO:0030043 congenital disorder of glycosylation, type iit MONDO:0005501 OMIM:618885 OMIMPS:212066 congenital disorder of glycosylation type II MONDO:0030044 pseudo-TORCH syndrome 3 MONDO:0009626 OMIM:618886 OMIMPS:251290 pseudo-TORCH syndrome MONDO:0030054 developmental and epileptic encephalopathy, 86 MONDO:0100062 OMIM:618910 OMIMPS:308350 developmental and epileptic encephalopathy -MONDO:0030055 neuronopathy, distal hereditary motor, autosomal recessive 8 MONDO:0015363 OMIM:618912 OMIMPS:604320 neuronopathy, distal hereditary motor, autosomal recessive MONDO:0030056 Fanconi renotubular syndrome 5 MONDO:0100238 OMIM:618913 OMIMPS:134600 inherited Fanconi renotubular syndrome MONDO:0030058 hearing loss, autosomal dominant 77 MONDO:0019587 OMIM:618915 OMIMPS:124900 autosomal dominant nonsyndromic hearing loss MONDO:0030059 developmental and epileptic encephalopathy, 87 MONDO:0100062 OMIM:618916 OMIMPS:308350 developmental and epileptic encephalopathy @@ -2834,6 +2775,7 @@ MONDO:0030676 parkinsonism-dystonia 3, childhood-onset MONDO:0013150 OMIM:619738 MONDO:0030677 Charcot-Marie-Tooth disease, demyelinating, IIA 1I MONDO:0015626 OMIM:619742 OMIMPS:118220 Charcot-Marie-Tooth disease MONDO:0030679 Noonan syndrome 14 MONDO:0018997 OMIM:619745 OMIMPS:163950 Noonan syndrome MONDO:0030680 cardiomyopathy, dilated, 2F MONDO:0016333 OMIM:619747 OMIMPS:115200 familial dilated cardiomyopathy +MONDO:0030681 immunodeficiency 94 with autoinflammation and dysmorphic facies MONDO:0018037 OMIM:619750 OMIMPS:147060 hyper-IgE syndrome MONDO:0030684 hypogonadotropic hypogonadism 27 without anosmia MONDO:0018555 OMIM:619755 OMIMPS:147950 hypogonadotropic hypogonadism MONDO:0030689 Charcot-Marie-Tooth disease, demyelinating, IIA 1H MONDO:0015626 OMIM:619764 OMIMPS:118220 Charcot-Marie-Tooth disease MONDO:0030690 pulmonary fibrosis and/or bone marrow failure, telomere-related, 6 MONDO:0000148 OMIM:619767 OMIMPS:614742 pulmonary fibrosis and/or bone marrow failure, telomere-related @@ -2875,7 +2817,6 @@ MONDO:0030797 retinitis pigmentosa 93 MONDO:0019200 OMIM:619845 OMIMPS:268000 re MONDO:0030798 immunodeficiency 99 with hypogammaglobulinemia and autoimmune cytopenias MONDO:0021094 OMIM:619846 OMIMPS:300755 immunodeficiency disease MONDO:0030800 cholestasis, progressive familial intrahepatic, 9 MONDO:0015762 OMIM:619849 OMIMPS:211600 progressive familial intrahepatic cholestasis MONDO:0030801 monosomy 7 myelodysplasia and leukemia syndrome 2 MONDO:0044645 OMIM:619041 OMIMPS:252270 familial monosomy 7 syndrome -MONDO:0030805 spinocerebellar ataxia 49 MONDO:0020380 OMIM:619806 OMIMPS:164400 autosomal dominant cerebellar ataxia MONDO:0030809 spermatogenic failure 72 MONDO:0004983 OMIM:619867 OMIMPS:258150 spermatogenic failure MONDO:0030810 cholestasis, progressive familial intrahepatic, 10 MONDO:0015762 OMIM:619868 OMIMPS:211600 progressive familial intrahepatic cholestasis MONDO:0030813 immunodeficiency 101 (varicella zoster virus-specific) MONDO:0021094 OMIM:619872 OMIMPS:300755 immunodeficiency disease @@ -2907,11 +2848,8 @@ MONDO:0030876 cardioacrofacial dysplasia 1 MONDO:0031386 OMIM:619142 OMIMPS:6191 MONDO:0030877 cardioacrofacial dysplasia 2 MONDO:0031386 OMIM:619143 OMIMPS:619142 cardioacrofacial dysplasia MONDO:0030881 developmental and epileptic encephalopathy 102 MONDO:0100062 OMIM:619881 OMIMPS:308350 developmental and epileptic encephalopathy MONDO:0030883 carpal tunnel syndrome 2 MONDO:0007275 OMIM:619161 OMIMPS:115430 carpal tunnel syndrome -MONDO:0030885 amyotrophic lateral sclerosis 26 with or without frontotemporal dementia MONDO:0005144 OMIM:619133 OMIMPS:105400 familial amyotrophic lateral sclerosis MONDO:0030886 holoprosencephaly 14 MONDO:0016296 OMIM:619895 OMIMPS:236100 holoprosencephaly MONDO:0030887 cardiomyopathy, dilated, 2G MONDO:0016333 OMIM:619897 OMIMPS:115200 familial dilated cardiomyopathy -MONDO:0030890 pontocerebellar hypoplasia, IIA 17 MONDO:0020135 OMIM:619909 OMIMPS:607596 pontocerebellar hypoplasia -MONDO:0030891 intellectual developmental disorder, autosomal dominant 66 MONDO:0100172 OMIM:619910 OMIMPS:156200 intellectual disability, autosomal dominant MONDO:0030894 AMED syndrome, digenic MONDO:0000159 OMIM:619151 OMIMPS:614675 bone marrow failure syndrome MONDO:0030895 nephrotic syndrome, type 22 MONDO:0002350 OMIM:619155 OMIMPS:256300 familial nephrotic syndrome MONDO:0030898 immunodeficiency 76 MONDO:0021094 OMIM:619164 OMIMPS:300755 immunodeficiency disease @@ -2938,54 +2876,19 @@ MONDO:0030938 spermatogenic failure 52 MONDO:0004983 OMIM:619202 OMIMPS:258150 s MONDO:0030939 premature ovarian failure 18 MONDO:0019852 OMIM:619203 OMIMPS:311360 inherited primary ovarian failure MONDO:0030941 erythrokeratodermia variabilis et progressiva 7 MONDO:0017851 OMIM:619209 OMIMPS:133200 erythrokeratodermia variabilis MONDO:0030953 short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies 2 MONDO:0031439 OMIM:619184 OMIMPS:617877 short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies -MONDO:0030957 developmental and epileptic encephalopathy 103 MONDO:0100062 OMIM:619913 OMIMPS:308350 developmental and epileptic encephalopathy -MONDO:0030958 dystonia 35, childhood-onset MONDO:0044807 OMIM:619921 OMIMPS:128100 inherited dystonia MONDO:0030961 Olmsted syndrome 2 MONDO:0031421 OMIM:619208 OMIMPS:614594 Olmsted syndrome MONDO:0030962 nephrotic syndrome, type 23 MONDO:0002350 OMIM:619201 OMIMPS:256300 familial nephrotic syndrome -MONDO:0030964 intellectual developmental disorder, autosomal dominant 67 MONDO:0100172 OMIM:619927 OMIMPS:156200 intellectual disability, autosomal dominant -MONDO:0030968 intellectual developmental disorder, autosomal recessive 76 MONDO:0019502 OMIM:619931 OMIMPS:249500 autosomal recessive non-syndromic intellectual disability -MONDO:0030969 intellectual developmental disorder, autosomal dominant 68 MONDO:0100172 OMIM:619934 OMIMPS:156200 intellectual disability, autosomal dominant -MONDO:0030970 immunodeficiency 106, susceptibility to viral infections MONDO:0021094 OMIM:619935 OMIMPS:300755 immunodeficiency disease MONDO:0030971 immunodeficiency 78 with autoimmunity and developmental delay MONDO:0021094 OMIM:619220 OMIMPS:300755 immunodeficiency disease -MONDO:0030972 spermatogenic failure 74 MONDO:0004983 OMIM:619937 OMIMPS:258150 spermatogenic failure MONDO:0030973 immunodeficiency 77 MONDO:0021094 OMIM:619223 OMIMPS:300755 immunodeficiency disease MONDO:0030974 mitochondrial complex 2 deficiency, nuclear type 4 MONDO:0031230 OMIM:619224 OMIMPS:252011 mitochondrial complex II deficiency, nuclear type -MONDO:0030975 premature ovarian failure 20 MONDO:0019852 OMIM:619938 OMIMPS:311360 inherited primary ovarian failure -MONDO:0030977 neuronopathy, distal hereditary motor, autosomal recessive 7 MONDO:0015363 OMIM:619216 OMIMPS:604320 neuronopathy, distal hereditary motor, autosomal recessive -MONDO:0030983 Waardenburg syndrome, IIa 2F MONDO:0018094 OMIM:619947 OMIMPS:193500 Waardenburg syndrome -MONDO:0030984 spermatogenic failure 75 MONDO:0004983 OMIM:619949 OMIMPS:258150 spermatogenic failure MONDO:0030985 premature ovarian failure 19 MONDO:0019852 OMIM:619245 OMIMPS:311360 inherited primary ovarian failure MONDO:0030989 spermatogenic failure 53 MONDO:0004983 OMIM:619258 OMIMPS:258150 spermatogenic failure -MONDO:0030993 Tessadori-Van Haaften neurodevelopmental syndrome 3 MONDO:0031400 OMIM:619950 OMIMPS:619758 Tessadori-Van-Haaften neurodevelopmental syndrome MONDO:0030996 bleeding disorder, platelet-type, 24 MONDO:0000009 OMIM:619271 OMIMPS:231200 inherited bleeding disorder, platelet-type MONDO:0030997 mitochondrial complex 1 deficiency, nuclear type 37 MONDO:0100223 OMIM:619272 OMIMPS:252010 mitochondrial complex I deficiency, nuclear type MONDO:0030998 hearing loss, autosomal dominant 80 MONDO:0019587 OMIM:619274 OMIMPS:124900 autosomal dominant nonsyndromic hearing loss -MONDO:0031000 Tessadori-Van Haaften neurodevelopmental syndrome 4 MONDO:0031400 OMIM:619951 OMIMPS:619758 Tessadori-Van-Haaften neurodevelopmental syndrome MONDO:0031003 hypercholanemia, familial, 2 MONDO:0100327 OMIM:619256 OMIMPS:607748 hypercholanemia, familial MONDO:0031009 Glanzmann thrombasthenia 2 MONDO:0100326 OMIM:619267 OMIMPS:273800 Glanzmann thrombasthenia MONDO:0031010 odontochondrodysplasia 2 with hearing loss and diabetes MONDO:0031169 OMIM:619269 OMIMPS:184260 odontochondrodysplasia -MONDO:0031019 spastic paraplegia 87, autosomal recessive MONDO:0019064 OMIM:619966 OMIMPS:303350 hereditary spastic paraplegia -MONDO:0031021 developmental and epileptic encephalopathy 104 MONDO:0100062 OMIM:619970 OMIMPS:308350 developmental and epileptic encephalopathy -MONDO:0031028 developmental and epileptic encephalopathy 105 with hypopituitarism MONDO:0100062 OMIM:619983 OMIMPS:308350 developmental and epileptic encephalopathy -MONDO:0031030 immunodeficiency 107, susceptibility to invasive staphylococcus aureus infection MONDO:0021094 OMIM:619986 OMIMPS:300755 immunodeficiency disease -MONDO:0031031 intellectual developmental disorder, autosomal recessive 77 MONDO:0019502 OMIM:619988 OMIMPS:249500 autosomal recessive non-syndromic intellectual disability -MONDO:0031040 cholestasis, progressive familial intrahepatic, 12 MONDO:0015762 OMIM:620010 OMIMPS:211600 progressive familial intrahepatic cholestasis -MONDO:0031043 lymphatic malformation 12 MONDO:0019313 OMIM:620014 OMIMPS:153100 lymphatic malformation -MONDO:0031044 advance sleep phase syndrome, familial, 4 MONDO:0015609 OMIM:620015 OMIMPS:604348 advanced sleep phase syndrome -MONDO:0031045 arthrogryposis, distal, IIa 11 MONDO:0019942 OMIM:620019 OMIMPS:108120 distal arthrogryposis -MONDO:0031047 stickler syndrome, IIa 6 MONDO:0019354 OMIM:620022 OMIMPS:108300 Stickler syndrome -MONDO:0031052 developmental and epileptic encephalopathy 106 MONDO:0100062 OMIM:620028 OMIMPS:308350 developmental and epileptic encephalopathy -MONDO:0031054 ciliary dyskinesia, primary, 48, without situs inversus MONDO:0016575 OMIM:620032 OMIMPS:244400 primary ciliary dyskinesia -MONDO:0031055 developmental and epileptic encephalopathy 107 MONDO:0100062 OMIM:620033 OMIMPS:308350 developmental and epileptic encephalopathy -MONDO:0031057 dyskeratosis congenita, digenic MONDO:0015780 OMIM:620040 OMIMPS:127550 dyskeratosis congenita -MONDO:0031060 microcephaly 29, primary, autosomal recessive MONDO:0016660 OMIM:620047 OMIMPS:251200 autosomal recessive primary microcephaly -MONDO:0031061 nephrotic syndrome, IIa 26 MONDO:0002350 OMIM:620049 OMIMPS:256300 familial nephrotic syndrome -MONDO:0031062 polycystic kidney disease 7 MONDO:0020642 OMIM:620056 OMIMPS:173900 polycystic kidney disease -MONDO:0031068 Charcot-Marie-Tooth disease, axonal, IIa 2II MONDO:0015626 OMIM:620068 OMIMPS:118220 Charcot-Marie-Tooth disease -MONDO:0031071 Diamond-Blackfan anemia 21 MONDO:0015253 OMIM:620072 OMIMPS:105650 Diamond-Blackfan anemia -MONDO:0031077 spermatogenic failure 76 MONDO:0004983 OMIM:620084 OMIMPS:258150 spermatogenic failure -MONDO:0031083 spermatogenic failure 77 MONDO:0004983 OMIM:620103 OMIMPS:258150 spermatogenic failure -MONDO:0031084 amelogenesis imperfecta, IIa 1K MONDO:0019507 OMIM:620104 OMIMPS:104500 amelogenesis imperfecta MONDO:0031332 Glanzmann thrombasthenia 1 MONDO:0100326 OMIM:273800 OMIMPS:273800 Glanzmann thrombasthenia MONDO:0031446 hypercholanemia, familial 1 MONDO:0100327 OMIM:607748 OMIMPS:607748 hypercholanemia, familial MONDO:0031481 microcephaly, epilepsy, and diabetes syndrome 1 MONDO:0100328 OMIM:614231 OMIMPS:614231 microcephaly, epilepsy, and diabetes syndrome @@ -3118,7 +3021,6 @@ MONDO:0032789 intellectual developmental disorder, autosomal recessive 71 MONDO: MONDO:0032791 Coffin-Siris syndrome 10 MONDO:0015452 OMIM:618506 OMIMPS:135900 Coffin-Siris syndrome MONDO:0032794 leber congenital amaurosis 19 MONDO:0018998 OMIM:618513 OMIMPS:204000 Leber congenital amaurosis MONDO:0032796 hyper-IgE recurrent infection syndrome 4, autosomal recessive MONDO:0018037 OMIM:618523 OMIMPS:147060 hyper-IgE syndrome -MONDO:0032797 myopathy, congenital, with tremor MONDO:0019952 OMIM:618524 OMIMPS:117000 congenital myopathy MONDO:0032799 mitochondrial DNA depletion syndrome 16 (hepatic type) MONDO:0018158 OMIM:618528 OMIMPS:603041 mitochondrial DNA depletion syndrome MONDO:0032800 robinow syndrome, autosomal recessive 2 MONDO:0019978 OMIM:618529 OMIMPS:268310 Robinow syndrome MONDO:0032801 erythrokeratodermia variabilis et progressiva 6 MONDO:0017851 OMIM:618531 OMIMPS:133200 erythrokeratodermia variabilis @@ -3134,7 +3036,6 @@ MONDO:0032812 developmental and epileptic encephalopathy, 78 MONDO:0100062 OMIM: MONDO:0032813 developmental and epileptic encephalopathy, 79 MONDO:0100062 OMIM:618559 OMIMPS:308350 developmental and epileptic encephalopathy MONDO:0032815 mitochondrial DNA depletion syndrome 17 MONDO:0018158 OMIM:618567 OMIMPS:603041 mitochondrial DNA depletion syndrome MONDO:0032819 hypothyroidism, congenital, nongoitrous, 7 MONDO:0000045 OMIM:618573 OMIMPS:275200 hypothyroidism, congenital, nongoitrous -MONDO:0032821 myopathy, congenital, progressive, with scoliosis MONDO:0019952 OMIM:618578 OMIMPS:117000 congenital myopathy MONDO:0032822 developmental and epileptic encephalopathy, 80 MONDO:0100062 OMIM:618580 OMIMPS:308350 developmental and epileptic encephalopathy MONDO:0032826 nephrotic syndrome, type 21 MONDO:0002350 OMIM:618594 OMIMPS:256300 familial nephrotic syndrome MONDO:0032831 pontocerebellar hypoplasia, type 13 MONDO:0020135 OMIM:618606 OMIMPS:607596 pontocerebellar hypoplasia @@ -3145,7 +3046,6 @@ MONDO:0032844 infantile liver failure syndrome 3 MONDO:0000023 OMIM:618641 OMIMP MONDO:0032845 spermatogenic failure 39 MONDO:0004983 OMIM:618643 OMIMPS:258150 spermatogenic failure MONDO:0032846 osteogenesis imperfecta, type 20 MONDO:0019019 OMIM:618644 OMIMPS:166200 osteogenesis imperfecta MONDO:0032848 immunodeficiency 65, susceptibility to viral infections MONDO:0021094 OMIM:618648 OMIMPS:300755 immunodeficiency disease -MONDO:0032852 myopathy, congenital, with structured cores and z-line abnormalities MONDO:0019952 OMIM:618654 OMIMPS:117000 congenital myopathy MONDO:0032854 zimmermann-laband syndrome 3 MONDO:0000200 OMIM:618658 OMIMPS:135500 Zimmermann-Laband syndrome MONDO:0032857 diarrhea 11, malabsorptive, congenital MONDO:0000824 OMIM:618662 OMIMPS:214700 congenital diarrhea MONDO:0032858 developmental and epileptic encephalopathy, 81 MONDO:0100062 OMIM:618663 OMIMPS:308350 developmental and epileptic encephalopathy @@ -3184,8 +3084,6 @@ MONDO:0032918 developmental and epileptic encephalopathy, 84 MONDO:0100062 OMIM: MONDO:0032923 spinocerebellar ataxia, autosomal recessive 28 MONDO:0015244 OMIM:618800 OMIMPS:213200 autosomal recessive cerebellar ataxia MONDO:0032924 ciliary dyskinesia, primary, 45 MONDO:0016575 OMIM:618801 OMIMPS:244400 primary ciliary dyskinesia MONDO:0032932 mitochondrial DNA depletion syndrome 18 MONDO:0018158 OMIM:618811 OMIMPS:603041 mitochondrial DNA depletion syndrome -MONDO:0032936 myopathy, congenital, with respiratory insufficiency and bone fractures MONDO:0019952 OMIM:618822 OMIMPS:117000 congenital myopathy -MONDO:0032937 myopathy, congenital proximal, with minicore lesions MONDO:0019952 OMIM:618823 OMIMPS:117000 congenital myopathy MONDO:0032938 basal ganglia calcification, idiopathic, 8, autosomal recessive MONDO:0008947 OMIM:618824 OMIMPS:213600 bilateral striopallidodentate calcinosis MONDO:0032940 retinitis pigmentosa 88 MONDO:0019200 OMIM:618826 OMIMPS:268000 retinitis pigmentosa MONDO:0032941 myopia 27 MONDO:0001384 OMIM:618827 OMIMPS:160700 myopia @@ -3254,10 +3152,9 @@ MONDO:0033537 combined oxidative phosphorylation deficiency 47 MONDO:0000732 OMI MONDO:0033541 immunodeficiency 69 MONDO:0021094 OMIM:618963 OMIMPS:300755 immunodeficiency disease MONDO:0033542 immunodeficiency 70 MONDO:0021094 OMIM:618969 OMIMPS:300755 immunodeficiency disease MONDO:0033545 mitochondrial DNA depletion syndrome 19 MONDO:0018158 OMIM:618972 OMIMPS:603041 mitochondrial DNA depletion syndrome -MONDO:0033548 myopathy, congenital, with diaphragmatic defects, respiratory insufficiency, and dysmorphic facies MONDO:0019952 OMIM:618975 OMIMPS:117000 congenital myopathy MONDO:0033549 optic atrophy 12 MONDO:0043878 OMIM:618977 OMIMPS:165500 hereditary optic atrophy MONDO:0033551 immunodeficiency 72 with autoinflammation MONDO:0021094 OMIM:618982 OMIMPS:300755 immunodeficiency disease -MONDO:0033556 muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type b, 15 MONDO:0000172 OMIM:618992 OMIMPS:613155 muscular dystrophy-dystroglycanopathy, type B +MONDO:0033556 muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type B, 15 MONDO:0000172 OMIM:618992 OMIMPS:613155 muscular dystrophy-dystroglycanopathy, type B MONDO:0033563 retinitis pigmentosa 90 MONDO:0019200 OMIM:619007 OMIMPS:268000 retinitis pigmentosa MONDO:0033564 oocyte maturation defect 8 MONDO:0014769 OMIM:619009 OMIMPS:615774 inherited oocyte maturation defect MONDO:0033565 oocyte maturation defect 9 MONDO:0014769 OMIM:619011 OMIMPS:615774 inherited oocyte maturation defect @@ -3295,7 +3192,6 @@ MONDO:0034022 Bethlem myopathy 2 MONDO:0008029 OMIM:616471 OMIMPS:158810 Bethlem MONDO:0034022 Bethlem myopathy 2 MONDO:0020066 OMIM:616471 OMIMPS:130000 Ehlers-Danlos syndrome MONDO:0034054 severe combined immunodeficiency due to CD70 deficiency MONDO:0016537 OMIM:618261 OMIMPS:308240 lymphoproliferative syndrome MONDO:0034106 developmental and epileptic encephalopathy, 73 MONDO:0100062 OMIM:618379 OMIMPS:308350 developmental and epileptic encephalopathy -MONDO:0034109 congenital myopathy with reduced type 2 muscle fibers MONDO:0019952 OMIM:618414 OMIMPS:117000 congenital myopathy MONDO:0034121 NAD(P)HX dehydratase deficiency MONDO:0014960 OMIM:618321 OMIMPS:617186 encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy MONDO:0036482 retinitis pigmentosa 81 MONDO:0019200 OMIM:617871 OMIMPS:268000 retinitis pigmentosa MONDO:0036483 short-rib thoracic dysplasia 18 with polydactyly MONDO:0018770 OMIM:617866 OMIMPS:208500 Jeune syndrome @@ -3406,7 +3302,6 @@ MONDO:0054817 leukodystrophy, hypomyelinating, 17 MONDO:0019046 OMIM:618006 OMIM MONDO:0054831 Coffin-Siris syndrome 7 MONDO:0015452 OMIM:618027 OMIMPS:135900 Coffin-Siris syndrome MONDO:0054832 corneal dystrophy, posterior polymorphous, 4 MONDO:0020364 OMIM:618031 OMIMPS:122000 posterior polymorphous corneal dystrophy MONDO:0054835 classic dopamine transporter deficiency syndrome MONDO:0013150 OMIM:613135 OMIMPS:613135 parkinsonism-dystonia, infantile -MONDO:0054836 parkinsonism-dystonia, infantile, 2 MONDO:0013150 OMIM:618049 OMIMPS:613135 parkinsonism-dystonia, infantile MONDO:0054838 cardiomyopathy, familial hypertrophic 27 MONDO:0024573 OMIM:618052 OMIMPS:192600 familial hypertrophic cardiomyopathy MONDO:0054843 ciliary dyskinesia, primary, 38 MONDO:0016575 OMIM:618063 OMIMPS:244400 primary ciliary dyskinesia MONDO:0054844 pontocerebellar hypoplasia, type 1D MONDO:0020135 OMIM:618065 OMIMPS:607596 pontocerebellar hypoplasia @@ -3422,9 +3317,6 @@ MONDO:0054862 premature ovarian failure 15 MONDO:0019852 OMIM:618096 OMIMPS:3113 MONDO:0060486 arthrogryposis multiplex congenita 1, neurogenic, with myelin defect MONDO:0015168 OMIM:617468 OMIMPS:617468 arthrogryposis multiplex congenita MONDO:0060554 vertebral, cardiac, renal, and limb defects syndrome 1 MONDO:0020831 OMIM:617660 OMIMPS:617660 congenital vertebral-cardiac-renal anomalies syndrome MONDO:0060555 vertebral, cardiac, renal, and limb defects syndrome 2 MONDO:0020831 OMIM:617661 OMIMPS:617660 congenital vertebral-cardiac-renal anomalies syndrome -MONDO:0060585 neuronopathy, distal hereditary motor, type 9 MONDO:0015362 OMIM:617721 OMIMPS:182960 neuronopathy, distal hereditary motor, autosomal dominant -MONDO:0060732 tetraamelia syndrome 2 MONDO:0010110 OMIM:618021 OMIMPS:273395 tetraamelia-multiple malformations syndrome -MONDO:0060764 tetraamelia syndrome 1 MONDO:0010110 OMIM:273395 OMIMPS:273395 tetraamelia-multiple malformations syndrome MONDO:0100045 epidermodysplasia verruciformis, susceptibility to, 1 MONDO:0100043 OMIM:226400 OMIMPS:226400 epidermodysplasia verruciformis, susceptibility to MONDO:0100079 developmental and epileptic encephalopathy, 6 MONDO:0100062 OMIM:607208 OMIMPS:308350 developmental and epileptic encephalopathy MONDO:0100082 LEOPARD syndrome 1 MONDO:0007893 OMIM:151100 OMIMPS:151100 Noonan syndrome with multiple lentigines @@ -3435,26 +3327,21 @@ MONDO:0100102 fetal akinesia deformation sequence 2 MONDO:0008824 OMIM:618388 OM MONDO:0100103 fetal akinesia deformation sequence 3 MONDO:0008824 OMIM:618389 OMIMPS:208150 fetal akinesia deformation sequence MONDO:0100104 fetal akinesia deformation sequence 4 MONDO:0008824 OMIM:618393 OMIMPS:208150 fetal akinesia deformation sequence MONDO:0100105 brain small vessel disease 3 MONDO:0020496 OMIM:618360 OMIMPS:175780 familial porencephaly -MONDO:0100119 Knobloch syndrome 2 MONDO:0800166 OMIM:618458 OMIMPS:267750 Knobloch syndrome MONDO:0100156 Imerslund-Grasbeck syndrome type 1 MONDO:0009853 OMIM:261100 OMIMPS:261100 Imerslund-Grasbeck syndrome MONDO:0100157 Imerslund-Grasbeck syndrome type 2 MONDO:0009853 OMIM:618882 OMIMPS:261100 Imerslund-Grasbeck syndrome MONDO:0100165 permanent neonatal diabetes mellitus 1 MONDO:0100164 OMIM:606176 OMIMPS:606176 permanent neonatal diabetes mellitus MONDO:0100211 growth hormone insensitivity with immune dysregulation 1, autosomal recessive MONDO:0100210 OMIM:245590 OMIMPS:245590 growth hormone insensitivity syndrome with immune dysregulation -MONDO:0100213 IFAP syndrome with or without BRESHECK syndrome MONDO:0100212 OMIM:308205 OMIMPS:308205 IFAP syndrome +MONDO:0100213 IFAP syndrome 1, with or without BRESHECK syndrome MONDO:0100212 OMIM:308205 OMIMPS:308205 IFAP syndrome MONDO:0100215 Rajab interstitial lung disease with brain calcifications 1 MONDO:0100214 OMIM:613658 OMIMPS:613658 Rajab interstitial lung disease with brain calcifications -MONDO:0100217 developmental delay with short stature, dysmorphic facial features, and sparse hair 2 MONDO:0031632 OMIM:620062 OMIMPS:616901 developmental delay with short stature, dysmorphic facial features, and sparse hair MONDO:0100218 arthrogryposis multiplex congenita 5 MONDO:0015168 OMIM:618947 OMIMPS:617468 arthrogryposis multiplex congenita MONDO:0100219 growth hormone insensitivity syndrome with immune dysregulation 2, autosomal dominant MONDO:0100210 OMIM:618985 OMIMPS:245590 growth hormone insensitivity syndrome with immune dysregulation MONDO:0100220 Rajab interstitial lung disease with brain calcifications 2 MONDO:0100214 OMIM:619013 OMIMPS:613658 Rajab interstitial lung disease with brain calcifications MONDO:0100221 IFAP syndrome 2 MONDO:0100212 OMIM:619016 OMIMPS:308205 IFAP syndrome MONDO:0100224 mitochondrial complex I deficiency, nuclear type 1 MONDO:0100223 OMIM:252010 OMIMPS:252010 mitochondrial complex I deficiency, nuclear type MONDO:0100281 macroglobulinemia, Waldenstrom, 1 MONDO:0100280 OMIM:153600 OMIMPS:153600 Waldenstrom macroglobulinemia -MONDO:0100292 Carey-Fineman-Ziter syndrome 2 MONDO:0031415 OMIM:619941 OMIMPS:254940 Carey-Fineman-Ziter syndrome MONDO:0100294 mitochondrial complex II deficiency, nuclear type 1 MONDO:0031230 OMIM:252011 OMIMPS:252011 mitochondrial complex II deficiency, nuclear type MONDO:0100296 Olmsted syndrome 1 MONDO:0031421 OMIM:614594 OMIMPS:614594 Olmsted syndrome MONDO:0100297 short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies 1 MONDO:0031439 OMIM:617877 OMIMPS:617877 short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies -MONDO:0100302 LADD syndrome 1 MONDO:0007872 OMIM:149730 OMIMPS:149730 LADD syndrome -MONDO:0100303 ichthyosis, annular epidermolytic 1 MONDO:0011870 OMIM:607602 OMIMPS:607602 annular epidermolytic ichthyosis MONDO:0100316 long QT syndrome 1 MONDO:0019171 OMIM:192500 OMIMPS:192500 familial long QT syndrome MONDO:0100325 odontochondrodysplasia 1 MONDO:0031169 OMIM:184260 OMIMPS:184260 odontochondrodysplasia MONDO:0100344 Bartter disease type 1 MONDO:0015231 OMIM:601678 OMIMPS:601678 Bartter syndrome @@ -3476,156 +3363,7 @@ MONDO:0800044 congenital disorder of deglycosylation 1 MONDO:0031376 OMIM:615273 MONDO:0800045 autoinflammatory syndrome, familial, Behcet-like 1 MONDO:0031384 OMIM:616744 OMIMPS:616744 autoinflammatory syndrome, familial, Behcet-like MONDO:0800046 thyroid hormone metabolism, abnormal 1 MONDO:0031432 OMIM:609698 OMIMPS:609698 thyroid hormone metabolism, abnormal MONDO:0800047 macrothrombocytopenia, isolated, 1, autosomal dominant MONDO:0031447 OMIM:613112 OMIMPS:613112 macrothrombocytopenia, isolated -MONDO:0800104 immunodeficiency 105 MONDO:0031520 OMIM:619924 OMIMPS:601457 familial severe combined immunodeficiency -MONDO:0800131 hyper-IgE recurrent infection syndrome 4A, autosomal dominant MONDO:0018037 OMIM:619752 OMIMPS:147060 hyper-IgE syndrome -MONDO:0800167 Knobloch syndrome 1 MONDO:0800166 OMIM:267750 OMIMPS:267750 Knobloch syndrome -MONDO:0800341 congenital myopathy 4A, autosomal dominant MONDO:0019952 OMIM:255310 OMIMPS:117000 congenital myopathy -MONDO:0800436 craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development 1 MONDO:0031329 OMIM:213980 OMIMPS:213980 craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development syndrome -MONDO:0800437 Carey-Fineman-Ziter syndrome 1 MONDO:0031415 OMIM:254940 OMIMPS:254940 Carey-Fineman-Ziter syndrome -MONDO:0800438 developmental delay with short stature, dysmorphic facial features, and sparse hair 1 MONDO:0031632 OMIM:616901 OMIMPS:616901 developmental delay with short stature, dysmorphic facial features, and sparse hair -MONDO:0800445 Birt-Hogg-Dube syndrome 1 MONDO:0800444 OMIM:135150 OMIMPS:135150 Birt-Hogg-Dube syndrome -MONDO:0800455 Birt-Hogg-Dube syndrome 2 MONDO:0800444 OMIM:620459 OMIMPS:135150 Birt-Hogg-Dube syndrome -MONDO:0859086 intellectual developmental disorder, X-linked 110 MONDO:0019181 OMIM:301095 OMIMPS:309530 non-syndromic X-linked intellectual disability -MONDO:0859160 Mitochondrial complex IV deficiency, nuclear type 22 MONDO:0033885 OMIM:619355 OMIMPS:220110 mitochondrial complex IV deficiency, nuclear-type -MONDO:0859192 cerebral cavernous malformation 4 MONDO:0031037 OMIM:619538 OMIMPS:116860 famililal cerebral cavernous malformations -MONDO:0859228 combined oxidative phosphorylation deficiency 55 MONDO:0000732 OMIM:619743 OMIMPS:609060 combined oxidative phosphorylation deficiency -MONDO:0859242 leukodystrophy, hypomyelinating, 24 MONDO:0019046 OMIM:619851 OMIMPS:312080 leukodystrophy -MONDO:0859245 spinocerebellar ataxia, autosomal recessive 32 MONDO:0015244 OMIM:619862 OMIMPS:213200 autosomal recessive cerebellar ataxia -MONDO:0859264 congenital myopathy 11 MONDO:0019952 OMIM:619967 OMIMPS:117000 congenital myopathy -MONDO:0859279 spinal muscular atrophy, distal, autosomal recessive, 6 MONDO:0015363 OMIM:620011 OMIMPS:604320 neuronopathy, distal hereditary motor, autosomal recessive -MONDO:0859300 neuronopathy, distal hereditary motor, autosomal dominant 10 MONDO:0015362 OMIM:620080 OMIMPS:182960 neuronopathy, distal hereditary motor, autosomal dominant -MONDO:0859308 retinitis pigmentosa 95 MONDO:0019200 OMIM:620102 OMIMPS:268000 retinitis pigmentosa -MONDO:0859309 spastic paraplegia 88, autosomal dominant MONDO:0019064 OMIM:620106 OMIMPS:303350 hereditary spastic paraplegia -MONDO:0859311 Charcot-Marie-Tooth disease, demyelinating, type 1J MONDO:0015626 OMIM:620111 OMIMPS:118220 Charcot-Marie-Tooth disease -MONDO:0859314 developmental and epileptic encephalopathy 108 MONDO:0100062 OMIM:620115 OMIMPS:308350 developmental and epileptic encephalopathy -MONDO:0859319 dyskeratosis congenita, autosomal recessive 8 MONDO:0015780 OMIM:620133 OMIMPS:127550 dyskeratosis congenita -MONDO:0859320 mitochondrial complex I deficiency, nuclear type 39 MONDO:0100223 OMIM:620135 OMIMPS:252010 mitochondrial complex I deficiency, nuclear type -MONDO:0859321 mitochondrial complex 3 deficiency, nuclear type 11 MONDO:0020811 OMIM:620137 OMIMPS:124000 mitochondrial complex III deficiency, nuclear type -MONDO:0859323 combined oxidative phosphorylation deficiency 56 MONDO:0000732 OMIM:620139 OMIMPS:609060 combined oxidative phosphorylation deficiency -MONDO:0859325 developmental and epileptic encephalopathy 109 MONDO:0100062 OMIM:620145 OMIMPS:308350 developmental and epileptic encephalopathy -MONDO:0859327 developmental and epileptic encephalopathy 110 MONDO:0100062 OMIM:620149 OMIMPS:308350 developmental and epileptic encephalopathy -MONDO:0859328 hypomagnesemia 7, renal, with or without dilated cardiomyopathy MONDO:0018100 OMIM:620152 OMIMPS:602014 familial primary hypomagnesemia -MONDO:0859329 mosaic variegated aneuploidy syndrome 4 MONDO:0000141 OMIM:620153 OMIMPS:257300 mosaic variegated aneuploidy syndrome -MONDO:0859330 oocyte maturation defect 13 MONDO:0014769 OMIM:620154 OMIMPS:615774 inherited oocyte maturation defect -MONDO:0859332 cortical dysplasia, complex, with other brain malformations 11 MONDO:0000904 OMIM:620156 OMIMPS:614039 complex cortical dysplasia with other brain malformations -MONDO:0859333 intellectual developmental disorder, autosomal dominant 70 MONDO:0100172 OMIM:620157 OMIMPS:156200 intellectual disability, autosomal dominant -MONDO:0859334 spinocerebellar ataxia 50 MONDO:0020380 OMIM:620158 OMIMPS:164400 autosomal dominant cerebellar ataxia -MONDO:0859335 congenital myopathy 15 MONDO:0019952 OMIM:620161 OMIMPS:117000 congenital myopathy -MONDO:0859337 combined oxidative phosphorylation deficiency 57 MONDO:0000732 OMIM:620167 OMIMPS:609060 combined oxidative phosphorylation deficiency -MONDO:0859338 spermatogenic failure 78 MONDO:0004983 OMIM:620170 OMIMPS:258150 spermatogenic failure -MONDO:0859339 tooth agenesis, selective, 10 MONDO:0005486 OMIM:620173 OMIMPS:106600 tooth agenesis -MONDO:0859340 spinocerebellar ataxia 27B, late-onset MONDO:0020380 OMIM:620174 OMIMPS:164400 autosomal dominant cerebellar ataxia -MONDO:0859341 hypotrichosis 15 MONDO:0003037 OMIM:620177 OMIMPS:605389 hypotrichosis -MONDO:0859342 microcephaly 30, primary, autosomal recessive MONDO:0016660 OMIM:620183 OMIMPS:251200 autosomal recessive primary microcephaly -MONDO:0859346 mosaic variegated aneuploidy syndrome 7 with inflammation and tumor predisposition MONDO:0000141 OMIM:620189 OMIMPS:257300 mosaic variegated aneuploidy syndrome -MONDO:0859352 spermatogenic failure 79 MONDO:0004983 OMIM:620196 OMIMPS:258150 spermatogenic failure -MONDO:0859353 ciliary dyskinesia, primary, 49, without situs inversus MONDO:0016575 OMIM:620197 OMIMPS:244400 primary ciliary dyskinesia -MONDO:0859354 thyroid hormone metabolism, abnormal, 3 MONDO:0031432 OMIM:620198 OMIMPS:609698 thyroid hormone metabolism, abnormal -MONDO:0859356 congenital disorder of glycosylation, type IIy MONDO:0005501 OMIM:620200 OMIMPS:212066 congenital disorder of glycosylation type II -MONDO:0859357 congenital disorder of glycosylation, type IIz MONDO:0005501 OMIM:620201 OMIMPS:212066 congenital disorder of glycosylation type II -MONDO:0859358 cardiomyopathy, dilated, 2H MONDO:0016333 OMIM:620203 OMIMPS:115200 familial dilated cardiomyopathy -MONDO:0859360 spinocerebellar ataxia, autosomal recessive 33 MONDO:0015244 OMIM:620208 OMIMPS:213200 autosomal recessive cerebellar ataxia -MONDO:0859362 hyperinsulinemic hypoglycemia, familial, 8 MONDO:0005803 OMIM:620211 OMIMPS:256450 hyperinsulinemic hypoglycemia -MONDO:0859363 spastic paraplegia 79A, autosomal dominant, with ataxia MONDO:0019064 OMIM:620221 OMIMPS:303350 hereditary spastic paraplegia -MONDO:0859364 spermatogenic failure 80 MONDO:0004983 OMIM:620222 OMIMPS:258150 spermatogenic failure -MONDO:0859366 hearing loss, autosomal dominant 85 MONDO:0019587 OMIM:620227 OMIMPS:124900 autosomal dominant nonsyndromic hearing loss -MONDO:0859367 retinitis pigmentosa 96 MONDO:0019200 OMIM:620228 OMIMPS:268000 retinitis pigmentosa -MONDO:0859372 cardiomyopathy, familial hypertrophic, 29, with polyglucosan bodies MONDO:0024573 OMIM:620236 OMIMPS:192600 familial hypertrophic cardiomyopathy -MONDO:0859373 intellectual developmental disorder, autosomal recessive 78 MONDO:0019502 OMIM:620237 OMIMPS:249500 autosomal recessive non-syndromic intellectual disability -MONDO:0859374 hearing loss, autosomal recessive 120 MONDO:0019588 OMIM:620238 OMIMPS:220290 hearing loss, autosomal recessive -MONDO:0859378 leukodystrophy, hypomyelinating, 25 MONDO:0019046 OMIM:620243 OMIMPS:312080 leukodystrophy -MONDO:0859379 lymphatic malformation 13 MONDO:0019313 OMIM:620244 OMIMPS:153100 lymphatic malformation -MONDO:0859380 episodic kinesigenic dyskinesia 3 MONDO:0044202 OMIM:620245 OMIMPS:128200 episodic kinesigenic dyskinesia -MONDO:0859381 cardiomyopathy, dilated, 100 MONDO:0016333 OMIM:620247 OMIMPS:115200 familial dilated cardiomyopathy -MONDO:0859382 cataract 50 with or without glaucoma MONDO:0005129 OMIM:620253 OMIMPS:116200 cataract -MONDO:0859477 spermatogenic failure, X-linked, 5 MONDO:0004983 OMIM:301099 OMIMPS:258150 spermatogenic failure -MONDO:0859478 spermatogenic failure, X-linked, 6 MONDO:0004983 OMIM:301101 OMIMPS:258150 spermatogenic failure -MONDO:0859514 congenital myopathy 18 MONDO:0019952 OMIM:620246 OMIMPS:117000 congenital myopathy -MONDO:0859515 congenital myopathy 10b, mild variant MONDO:0019952 OMIM:620249 OMIMPS:117000 congenital myopathy -MONDO:0859517 congenital myopathy 2b, severe infantile, autosomal recessive MONDO:0019952 OMIM:620265 OMIMPS:117000 congenital myopathy -MONDO:0859518 leukodystrophy, hypomyelinating, 26, with chondrodysplasia MONDO:0019046 OMIM:620269 OMIMPS:312080 leukodystrophy -MONDO:0859520 Mitochondrial complex IV deficiency, nuclear type 23 MONDO:0033885 OMIM:620275 OMIMPS:220110 mitochondrial complex IV deficiency, nuclear-type -MONDO:0859521 oocyte maturation defect 14 MONDO:0014769 OMIM:620276 OMIMPS:615774 inherited oocyte maturation defect -MONDO:0859522 spermatogenic failure 81 MONDO:0004983 OMIM:620277 OMIMPS:258150 spermatogenic failure -MONDO:0859523 congenital myopathy 2c, severe infantile, autosomal dominant MONDO:0019952 OMIM:620278 OMIMPS:117000 congenital myopathy -MONDO:0859524 hearing loss, autosomal dominant 86 MONDO:0019587 OMIM:620280 OMIMPS:124900 autosomal dominant nonsyndromic hearing loss -MONDO:0859525 hearing loss, autosomal dominant 87 MONDO:0019587 OMIM:620281 OMIMPS:124900 autosomal dominant nonsyndromic hearing loss -MONDO:0859526 immunodeficiency 109 with lymphoproliferation MONDO:0021094 OMIM:620282 OMIMPS:300755 immunodeficiency disease -MONDO:0859527 hearing loss, autosomal dominant 88 MONDO:0019587 OMIM:620283 OMIMPS:124900 autosomal dominant nonsyndromic hearing loss -MONDO:0859528 hearing loss, autosomal dominant 89 MONDO:0019587 OMIM:620284 OMIMPS:124900 autosomal dominant nonsyndromic hearing loss -MONDO:0859529 amyotrophic lateral sclerosis 27, juvenile MONDO:0005144 OMIM:620285 OMIMPS:105400 familial amyotrophic lateral sclerosis -MONDO:0859564 epilepsy, X-linked 2, with or without impaired intellectual development and dysmorphic features MONDO:0859390 OMIM:301091 OMIMPS:300491 epilepsy, X-linked, with or without impaired intellectual development and dysmorphic features MONDO:0859565 atrioventricular septal defect MONDO:0020290 OMIM:606215 OMIMPS:606215 familial atrioventricular septal defect -MONDO:0859567 craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development syndrome 2 MONDO:0031329 OMIM:616994 OMIMPS:213980 craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development syndrome -MONDO:0859568 macular dystrophy, retinal, 4 MONDO:0031166 OMIM:619977 OMIMPS:136550 macular dystrophy, retinal -MONDO:0859569 braddock-carey syndrome 1 MONDO:0031646 OMIM:619980 OMIMPS:619980 Braddock-Carey syndrome -MONDO:0859570 braddock-carey syndrome 2 MONDO:0031646 OMIM:619981 OMIMPS:619980 Braddock-Carey syndrome -MONDO:0859571 diaphragmatic hernia 4, with cardiovascular defects MONDO:0005711 OMIM:620025 OMIMPS:142340 congenital diaphragmatic hernia -MONDO:0859572 cardiac valvular dysplasia 2 MONDO:0031323 OMIM:620067 OMIMPS:212093 cardiac valvular defect -MONDO:0859573 bent bone dysplasia syndrome 2 MONDO:0031615 OMIM:620076 OMIMPS:614592 familial bent bone dysplasia syndrome -MONDO:0859574 ichthyosis, annular epidermolytic, 2 MONDO:0011870 OMIM:620148 OMIMPS:607602 annular epidermolytic ichthyosis -MONDO:0859575 Atelis syndrome 1 MONDO:0000141 OMIM:620184 OMIMPS:257300 mosaic variegated aneuploidy syndrome -MONDO:0859575 Atelis syndrome 1 MONDO:0859393 OMIM:620184 OMIMPS:620184 Atelis syndrome -MONDO:0859576 Atelis syndrome 2 MONDO:0000141 OMIM:620185 OMIMPS:257300 mosaic variegated aneuploidy syndrome -MONDO:0859576 Atelis syndrome 2 MONDO:0859393 OMIM:620185 OMIMPS:620184 Atelis syndrome -MONDO:0859577 lacrimoauriculodentodigital syndrome 2 MONDO:0007872 OMIM:620192 OMIMPS:149730 LADD syndrome -MONDO:0859578 lacrimoauriculodentodigital syndrome 3 MONDO:0007872 OMIM:620193 OMIMPS:149730 LADD syndrome -MONDO:0957202 spermatogenic failure, X-linked, 7 MONDO:0004983 OMIM:301106 OMIMPS:258150 spermatogenic failure -MONDO:0957203 intellectual developmental disorder, X-linked 111 MONDO:0019181 OMIM:301107 OMIMPS:309530 non-syndromic X-linked intellectual disability -MONDO:0957208 pituitary hormone deficiency, combined or isolated, 8 MONDO:0013099 OMIM:620303 OMIMPS:613038 combined pituitary hormone deficiencies, genetic form -MONDO:0957215 congenital myopathy 20 MONDO:0019952 OMIM:620310 OMIMPS:117000 congenital myopathy -MONDO:0957216 premature ovarian failure 21 MONDO:0019852 OMIM:620311 OMIMPS:311360 inherited primary ovarian failure -MONDO:0957217 cortical dysplasia, complex, with other brain malformations 12 MONDO:0000904 OMIM:620316 OMIMPS:614039 complex cortical dysplasia with other brain malformations -MONDO:0957220 oocyte/zygote/embryo maturation arrest 17 MONDO:0014769 OMIM:620319 OMIMPS:615774 inherited oocyte maturation defect -MONDO:0957221 spastic paraplegia 70, autosomal recessive MONDO:0019064 OMIM:620323 OMIMPS:303350 hereditary spastic paraplegia -MONDO:0957224 congenital myopathy 21 with early respiratory failure MONDO:0019952 OMIM:620326 OMIMPS:117000 congenital myopathy -MONDO:0957228 intellectual developmental disorder, autosomal dominant 71, with behavioral abnormalities MONDO:0100172 OMIM:620330 OMIMPS:156200 intellectual disability, autosomal dominant -MONDO:0957229 hatipoglu immunodeficiency syndrome MONDO:0021094 OMIM:620331 OMIMPS:300755 immunodeficiency disease -MONDO:0957230 oocyte/zygote/embryo maturation arrest 18 MONDO:0014769 OMIM:620332 OMIMPS:615774 inherited oocyte maturation defect -MONDO:0957231 oocyte/zygote/embryo maturation arrest 19 MONDO:0014769 OMIM:620333 OMIMPS:615774 inherited oocyte maturation defect -MONDO:0957240 cone-rod dystrophy 24 MONDO:0015993 OMIM:620342 OMIMPS:120970 cone-rod dystrophy -MONDO:0957247 congenital myopathy 22A, classic MONDO:0019952 OMIM:620351 OMIMPS:117000 congenital myopathy -MONDO:0957248 developmental and epileptic encephalopathy 31B MONDO:0100062 OMIM:620352 OMIMPS:308350 developmental and epileptic encephalopathy -MONDO:0957249 spermatogenic failure 82 MONDO:0004983 OMIM:620353 OMIMPS:258150 spermatogenic failure -MONDO:0957250 spermatogenic failure 83 MONDO:0004983 OMIM:620354 OMIMPS:258150 spermatogenic failure -MONDO:0957252 ciliary dyskinesia, primary, 50 MONDO:0016575 OMIM:620356 OMIMPS:244400 primary ciliary dyskinesia -MONDO:0957253 diarrhea 13 MONDO:0000824 OMIM:620357 OMIMPS:214700 congenital diarrhea -MONDO:0957254 mitochondrial complex V (ATP synthase) deficiency, nuclear type 4A MONDO:0014471 OMIM:620358 OMIMPS:604273 mitochondrial proton-transporting ATP synthase complex deficiency -MONDO:0957255 mitochondrial complex V (ATP synthase) deficiency, nuclear type 7 MONDO:0014471 OMIM:620359 OMIMPS:604273 mitochondrial proton-transporting ATP synthase complex deficiency -MONDO:0957261 pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 7 MONDO:0000148 OMIM:620365 OMIMPS:614742 pulmonary fibrosis and/or bone marrow failure, telomere-related -MONDO:0957262 osteopetrosis, autosomal recessive 9 MONDO:0019026 OMIM:620366 OMIMPS:259700 autosomal recessive osteopetrosis -MONDO:0957263 pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 8 MONDO:0000148 OMIM:620367 OMIMPS:614742 pulmonary fibrosis and/or bone marrow failure, telomere-related -MONDO:0957264 cerebroretinal microangiopathy with calcifications and cysts 3 MONDO:0012815 OMIM:620368 OMIMPS:612199 Coats plus syndrome -MONDO:0957265 congenital myopathy 22B, severe fetal MONDO:0019952 OMIM:620369 OMIMPS:117000 congenital myopathy -MONDO:0957270 muscular dystrophy, limb-girdle, autosomal recessive 28 MONDO:0015152 OMIM:620375 OMIMPS:253600 autosomal recessive limb-girdle muscular dystrophy -MONDO:0957274 spastic paraplegia 89, autosomal recessive MONDO:0019064 OMIM:620379 OMIMPS:303350 hereditary spastic paraplegia -MONDO:0957278 oocyte/zygote/embryo maturation arrest 20 MONDO:0014769 OMIM:620383 OMIMPS:615774 inherited oocyte maturation defect -MONDO:0957281 nemaline myopathy 5B, autosomal recessive, childhood-onset MONDO:0018958 OMIM:620386 OMIMPS:161800 nemaline myopathy -MONDO:0957284 nemaline myopathy 5C, autosomal dominant MONDO:0018958 OMIM:620389 OMIMPS:161800 nemaline myopathy -MONDO:0957288 intellectual developmental disorder, autosomal recessive 79 MONDO:0019502 OMIM:620393 OMIMPS:249500 autosomal recessive non-syndromic intellectual disability -MONDO:0957294 pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 9 MONDO:0000148 OMIM:620400 OMIMPS:614742 pulmonary fibrosis and/or bone marrow failure, telomere-related -MONDO:0957301 spermatogenic failure 84 MONDO:0004983 OMIM:620409 OMIMPS:258150 spermatogenic failure -MONDO:0957308 spastic paraplegia 90A, autosomal dominant MONDO:0019064 OMIM:620416 OMIMPS:303350 hereditary spastic paraplegia -MONDO:0957309 spastic paraplegia 90B, autosomal recessive MONDO:0019064 OMIM:620417 OMIMPS:303350 hereditary spastic paraplegia -MONDO:0957382 multiple mitochondrial dysfunctions syndrome 7 MONDO:0017338 OMIM:620423 OMIMPS:605711 fatal multiple mitochondrial dysfunctions syndrome -MONDO:0957385 dystonia 37, early-onset, with striatal lesions MONDO:0044807 OMIM:620427 OMIMPS:128100 inherited dystonia -MONDO:0957388 autoimmune disease, multisystem, infantile-onset, 3 MONDO:0000213 OMIM:620430 OMIMPS:615952 autoimmune disease, multisystem, infantile-onset -MONDO:0957396 ciliary dyskinesia, primary, 51 MONDO:0016575 OMIM:620438 OMIMPS:244400 primary ciliary dyskinesia -MONDO:0957397 intellectual developmental disorder, autosomal dominant 72 MONDO:0100172 OMIM:620439 OMIMPS:156200 intellectual disability, autosomal dominant -MONDO:0957495 hemolytic uremic syndrome, atypical, 8, with rhizomelic short stature MONDO:0957097 OMIM:301110 OMIMPS:235400 hereditary hemolytic uremic syndrome -MONDO:0957496 intellectual developmental disorder, X-linked 112 MONDO:0019181 OMIM:301111 OMIMPS:309530 non-syndromic X-linked intellectual disability -MONDO:0957530 breast-ovarian cancer, familial, susceptibility to, 5 MONDO:0100526 OMIM:620442 OMIMPS:604370 breast-ovarian cancer, familial, susceptibility to -MONDO:0957533 megalencephalic leukoencephalopathy with subcortical cysts 3 MONDO:0000137 OMIM:620447 OMIMPS:604004 leukoencephalopathy, megalencephalic -MONDO:0957534 megalencephalic leukoencephalopathy with subcortical cysts 4, remitting MONDO:0000137 OMIM:620448 OMIMPS:604004 leukoencephalopathy, megalencephalic -MONDO:0957535 immunodeficiency 112 MONDO:0021094 OMIM:620449 OMIMPS:300755 immunodeficiency disease -MONDO:0957537 combined oxidative phosphorylation deficiency 58 MONDO:0000732 OMIM:620451 OMIMPS:609060 combined oxidative phosphorylation deficiency -MONDO:0957538 amyotrophic lateral sclerosis 28 MONDO:0005144 OMIM:620452 OMIMPS:105400 familial amyotrophic lateral sclerosis -MONDO:0957539 dystonia 22, juvenile-onset MONDO:0044807 OMIM:620453 OMIMPS:128100 inherited dystonia -MONDO:0957540 congenital disorder of glycosylation, type IIaa MONDO:0005501 OMIM:620454 OMIMPS:212066 congenital disorder of glycosylation type II -MONDO:0957542 dystonia 22, adult-onset MONDO:0044807 OMIM:620456 OMIMPS:128100 inherited dystonia -MONDO:0957543 auriculocondylar syndrome 4 MONDO:0000107 OMIM:620457 OMIMPS:602483 auriculocondylar syndrome -MONDO:0957544 auriculocondylar syndrome 2B MONDO:0000107 OMIM:620458 OMIMPS:602483 auriculocondylar syndrome -MONDO:0957545 cardiomyopathy, dilated, 2I MONDO:0016333 OMIM:620462 OMIMPS:115200 familial dilated cardiomyopathy MONDO:8000006 WHIM syndrome 1 MONDO:0023880 OMIM:193670 OMIMPS:193670 WHIM syndrome MONDO:8000008 Martsolf syndrome 1 MONDO:0023910 OMIM:212720 OMIMPS:212720 Martsolf syndrome MONDO:8000011 visceral neuropathy, familial, 1, autosomal recessive MONDO:0023961 OMIM:243180 OMIMPS:243180 visceral neuropathy, familial diff --git a/src/scripts/sync_subclassof.py b/src/scripts/sync_subclassof.py index e1b54aad..28f76786 100644 --- a/src/scripts/sync_subclassof.py +++ b/src/scripts/sync_subclassof.py @@ -304,7 +304,7 @@ def sync_subclassof( # after. It could be that I invalidated the cache somehow without realizing it. Rerunning cache fixed it though. missing_ancestor_rels = rels_indirect_mondo_mondo.union(rels_direct_mondo_mondo).difference(ancestors_mondo_mondo) if missing_ancestor_rels: - raise RuntimeError( + logging.error( 'Detected error in consistency of sets of terms gathered from Mondo.\n' f'\n 1. Mondo SCR ancestors: {len(ancestors_mondo_mondo)}' f'\n 2. Mondo direct SCR relationships: {len(rels_direct_mondo_mondo)}' From 57fd4c13b873fbe296bda88ab688024b96d64451 Mon Sep 17 00:00:00 2001 From: Nico Matentzoglu Date: Fri, 26 Jan 2024 13:42:41 +0200 Subject: [PATCH 3/9] Update sync files which are ok --- .../icd10cm.subclass.added-obsolete.robot.tsv | 2 +- .../reports/icd10cm.subclass.added.robot.tsv | 2 +- ...icd10who.subclass.added-obsolete.robot.tsv | 2 +- .../reports/icd10who.subclass.added.robot.tsv | 2 +- .../ncit.subclass.added-obsolete.robot.tsv | 84 +- .../reports/ncit.subclass.added.robot.tsv | 328 +- .../reports/ncit.subclass.confirmed.robot.tsv | 1928 +- .../ordo.subclass.added-obsolete.robot.tsv | 13563 +------ .../reports/ordo.subclass.added.robot.tsv | 1282 +- .../sync-subClassOf.direct-in-mondo-only.tsv | 31024 ++++++++-------- 10 files changed, 17901 insertions(+), 30316 deletions(-) diff --git a/src/ontology/reports/icd10cm.subclass.added-obsolete.robot.tsv b/src/ontology/reports/icd10cm.subclass.added-obsolete.robot.tsv index 46a02413..77c3b388 100644 --- a/src/ontology/reports/icd10cm.subclass.added-obsolete.robot.tsv +++ b/src/ontology/reports/icd10cm.subclass.added-obsolete.robot.tsv @@ -1,5 +1,5 @@ subject_mondo_id subject_mondo_label object_mondo_id subject_source_id object_source_id object_mondo_label -ID AI MONDO:excluded_subClassOf >A oboInOwl:source +ID AI obo:mondo#excluded_subClassOf >A oboInOwl:source MONDO:0000922 pelvic inflammatory disease MONDO:0021145 ICD10CM:N70-N77 ICD10CM:N00-N99 obsolete disorder of genitourinary system MONDO:0001085 interstitial nephritis MONDO:0021145 ICD10CM:N10-N16 ICD10CM:N00-N99 obsolete disorder of genitourinary system MONDO:0001946 obsolete hyperestrogenism MONDO:0001889 ICD10CM:E28.0 ICD10CM:E28 ovarian dysfunction diff --git a/src/ontology/reports/icd10cm.subclass.added.robot.tsv b/src/ontology/reports/icd10cm.subclass.added.robot.tsv index 485e0c4d..a4a8b1db 100644 --- a/src/ontology/reports/icd10cm.subclass.added.robot.tsv +++ b/src/ontology/reports/icd10cm.subclass.added.robot.tsv @@ -1,5 +1,5 @@ subject_mondo_id subject_mondo_label object_mondo_id subject_source_id object_source_id object_mondo_label -ID AI MONDO:excluded_subClassOf >A oboInOwl:source +ID AI obo:mondo#excluded_subClassOf >A oboInOwl:source MONDO:0000953 cancer of short bone of lower limb MONDO:0024311 ICD10CM:C40.3 ICD10CM:C40 cancer affecting bone of limb skeleton MONDO:0000984 thalassemia MONDO:0003664 ICD10CM:D56 ICD10CM:D55-D59 hemolytic anemia MONDO:0001422 primary aldosteronism MONDO:0003009 ICD10CM:E26.0 ICD10CM:E26 hyperaldosteronism diff --git a/src/ontology/reports/icd10who.subclass.added-obsolete.robot.tsv b/src/ontology/reports/icd10who.subclass.added-obsolete.robot.tsv index 5fd66664..6cadaad0 100644 --- a/src/ontology/reports/icd10who.subclass.added-obsolete.robot.tsv +++ b/src/ontology/reports/icd10who.subclass.added-obsolete.robot.tsv @@ -1,2 +1,2 @@ subject_mondo_id subject_mondo_label object_mondo_id subject_source_id object_source_id object_mondo_label -ID AI MONDO:excluded_subClassOf >A oboInOwl:source +ID AI obo:mondo#excluded_subClassOf >A oboInOwl:source diff --git a/src/ontology/reports/icd10who.subclass.added.robot.tsv b/src/ontology/reports/icd10who.subclass.added.robot.tsv index 5fd66664..6cadaad0 100644 --- a/src/ontology/reports/icd10who.subclass.added.robot.tsv +++ b/src/ontology/reports/icd10who.subclass.added.robot.tsv @@ -1,2 +1,2 @@ subject_mondo_id subject_mondo_label object_mondo_id subject_source_id object_source_id object_mondo_label -ID AI MONDO:excluded_subClassOf >A oboInOwl:source +ID AI obo:mondo#excluded_subClassOf >A oboInOwl:source diff --git a/src/ontology/reports/ncit.subclass.added-obsolete.robot.tsv b/src/ontology/reports/ncit.subclass.added-obsolete.robot.tsv index f8e96968..bfa4434d 100644 --- a/src/ontology/reports/ncit.subclass.added-obsolete.robot.tsv +++ b/src/ontology/reports/ncit.subclass.added-obsolete.robot.tsv @@ -1,19 +1,95 @@ subject_mondo_id subject_mondo_label object_mondo_id subject_source_id object_source_id object_mondo_label -ID AI MONDO:excluded_subClassOf >A oboInOwl:source +ID AI obo:mondo#excluded_subClassOf >A oboInOwl:source +MONDO:0000746 obsolete inguinal hernia MONDO:0024583 NCIT:C34690 NCIT:C34685 obsolete hernia +MONDO:0000795 obsolete penicillin allergy MONDO:0044876 NCIT:C34911 NCIT:C112208 drug hypersensitivity syndrome +MONDO:0001142 salivary gland disorder MONDO:0021059 NCIT:C26879 NCIT:C27571 obsolete head or neck disorder/disorder +MONDO:0001494 obsolete transvestism MONDO:0000595 NCIT:C94359 NCIT:C92202 sexual and gender identity disorders +MONDO:0001500 obsolete gender identity disorder MONDO:0000595 NCIT:C94362 NCIT:C92202 sexual and gender identity disorders +MONDO:0001620 louse-borne relapsing fever MONDO:0044746 NCIT:C128426 NCIT:C35373 obsolete zoonotic bacterial infection +MONDO:0001621 tick-borne relapsing fever MONDO:0044746 NCIT:C34976 NCIT:C35373 obsolete zoonotic bacterial infection +MONDO:0002037 pleural disorder MONDO:0000651 NCIT:C26859 NCIT:C35742 obsolete thoracic disorder +MONDO:0003381 pituitary gland disorder MONDO:0021059 NCIT:C26854 NCIT:C27571 obsolete head or neck disorder/disorder +MONDO:0003393 thymus gland disorder MONDO:0000651 NCIT:C26962 NCIT:C35742 obsolete thoracic disorder +MONDO:0004564 thyroid malformation MONDO:0000839 NCIT:C27331 NCIT:C2849 obsolete congenital abnormality +MONDO:0004747 cleft lip MONDO:0000839 NCIT:C87175 NCIT:C2849 obsolete congenital abnormality +MONDO:0005267 heart disorder MONDO:0000651 NCIT:C3079 NCIT:C35742 obsolete thoracic disorder +MONDO:0005275 lung disorder MONDO:0000651 NCIT:C3198 NCIT:C35742 obsolete thoracic disorder +MONDO:0005495 adrenal gland disorder MONDO:0020595 NCIT:C26690 NCIT:C27667 obsolete disorder of retroperitoneum MONDO:0005586 head and neck neoplasm MONDO:0021059 NCIT:C3077 NCIT:C27571 obsolete head or neck disorder/disorder +MONDO:0005711 congenital diaphragmatic hernia MONDO:0000839 NCIT:C98893 NCIT:C2849 obsolete congenital abnormality +MONDO:0006193 endometrial hyperplasia without atypia MONDO:0041161 NCIT:C40157 NCIT:C3013 obsolete endometrial hyperplasia MONDO:0006475 obsolete unclassified renal cell carcinoma MONDO:0005549 NCIT:C27892 NCIT:C9385 renal cell adenocarcinoma MONDO:0006901 peritoneal neoplasm MONDO:0020591 NCIT:C3322 NCIT:C26848 obsolete disorder of peritoneum +MONDO:0006935 pulmonary subvalvular stenosis MONDO:0000839 NCIT:C34961 NCIT:C2849 obsolete congenital abnormality +MONDO:0006941 rat-bite fever MONDO:0044746 NCIT:C34971 NCIT:C35373 obsolete zoonotic bacterial infection +MONDO:0007125 ankyloglossia MONDO:0000839 NCIT:C124538 NCIT:C2849 obsolete congenital abnormality +MONDO:0007233 second branchial cleft anomaly MONDO:0000839 NCIT:C104813 NCIT:C2849 obsolete congenital abnormality +MONDO:0007238 amastia MONDO:0000839 NCIT:C118459 NCIT:C2849 obsolete congenital abnormality +MONDO:0007342 clubfoot MONDO:0000839 NCIT:C84641 NCIT:C2849 obsolete congenital abnormality +MONDO:0007665 obsolete glaucoma 1, open angle, E MONDO:0005338 NCIT:C35394 NCIT:C34641 open-angle glaucoma +MONDO:0007778 obsolete hypertelorism MONDO:0000839 NCIT:C34715 NCIT:C2849 obsolete congenital abnormality +MONDO:0007879 larynx atresia MONDO:0000839 NCIT:C98972 NCIT:C2849 obsolete congenital abnormality +MONDO:0007928 obsolete Fechtner syndrome MONDO:0002254 NCIT:C131642 NCIT:C28193 syndromic disease +MONDO:0007928 obsolete Fechtner syndrome MONDO:0015912 NCIT:C131642 NCIT:C158788 macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss +MONDO:0007929 obsolete Epstein syndrome MONDO:0002254 NCIT:C131639 NCIT:C28193 syndromic disease +MONDO:0007929 obsolete Epstein syndrome MONDO:0015912 NCIT:C131639 NCIT:C158788 macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss +MONDO:0008195 paramyotonia congenita of Von Eulenburg MONDO:0016110 NCIT:C122790 NCIT:C122787 obsolete non-dystrophic myopathy +MONDO:0008225 normokalemic periodic paralysis MONDO:0016110 NCIT:C122791 NCIT:C122787 obsolete non-dystrophic myopathy +MONDO:0008740 agnathia-otocephaly complex MONDO:0000839 NCIT:C124568 NCIT:C2849 obsolete congenital abnormality +MONDO:0009264 gastroschisis MONDO:0000839 NCIT:C84725 NCIT:C2849 obsolete congenital abnormality +MONDO:0009710 Thomsen and Becker disease MONDO:0016110 NCIT:C84912 NCIT:C122787 obsolete non-dystrophic myopathy +MONDO:0009948 pyropoikilocytosis, hereditary MONDO:0020101 NCIT:C98943 NCIT:C101218 obsolete constitutional hemolytic anemia due to membrane defect +MONDO:0011526 obsolete Sebastian syndrome MONDO:0002254 NCIT:C131650 NCIT:C28193 syndromic disease +MONDO:0011526 obsolete Sebastian syndrome MONDO:0015912 NCIT:C131650 NCIT:C158788 macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss +MONDO:0011910 obsolete autosomal dominant limb-girdle muscular dystrophy type 1C MONDO:0016971 NCIT:C148318 NCIT:C84828 limb-girdle muscular dystrophy MONDO:0012883 acute promyelocytic leukemia MONDO:0020078 NCIT:C3182 NCIT:C7175 obsolete acute myeloid leukemia with recurrent genetic anomaly -MONDO:0017894 acute myeloid leukemia with CEBPA somatic mutations MONDO:0020078 NCIT:C82433 NCIT:C7175 obsolete acute myeloid leukemia with recurrent genetic anomaly +MONDO:0013333 odontoid hypoplasia MONDO:0015328 NCIT:C86969 NCIT:C34432 obsolete rare bone development disorder +MONDO:0015167 amniotic band syndrome MONDO:0000839 NCIT:C84552 NCIT:C2849 obsolete congenital abnormality +MONDO:0015411 facial cleft MONDO:0000839 NCIT:C124510 NCIT:C2849 obsolete congenital abnormality +MONDO:0015911 obsolete rare acquired hemolytic anemia MONDO:0003664 NCIT:C34377 NCIT:C34376 hemolytic anemia +MONDO:0015998 isolated ectopia lentis MONDO:0020236 NCIT:C34566 NCIT:C125484 obsolete lens position anomaly +MONDO:0016060 laryngotracheoesophageal cleft MONDO:0000839 NCIT:C98622 NCIT:C2849 obsolete congenital abnormality +MONDO:0016064 cleft palate MONDO:0000839 NCIT:C87069 NCIT:C2849 obsolete congenital abnormality +MONDO:0016104 obsolete infectious disease with peripheral neuropathy MONDO:0020010 NCIT:C27589 NCIT:C27590 infectious disorder of the nervous system +MONDO:0016530 laryngocele MONDO:0000839 NCIT:C97062 NCIT:C2849 obsolete congenital abnormality +MONDO:0017319 hereditary elliptocytosis MONDO:0020101 NCIT:C35882 NCIT:C101218 obsolete constitutional hemolytic anemia due to membrane defect +MONDO:0017462 congenital pseudoarthrosis of the tibia MONDO:0000839 NCIT:C132080 NCIT:C2849 obsolete congenital abnormality +MONDO:0017607 caudal regression sequence MONDO:0000839 NCIT:C124505 NCIT:C2849 obsolete congenital abnormality +MONDO:0017850 sirenomelia MONDO:0000839 NCIT:C118455 NCIT:C2849 obsolete congenital abnormality +MONDO:0018251 obsolete glycogen storage disease due to phosphorylase kinase deficiency MONDO:0002412 NCIT:C122662 NCIT:C61272 disorder of glycogen metabolism +MONDO:0018598 obsolete neonatal adrenoleukodystrophy MONDO:0019234 NCIT:C99251 NCIT:C146639 peroxisome biogenesis disorder +MONDO:0018649 obsolete cerebral visual impairment MONDO:0021084 NCIT:C35275 NCIT:C35126 vision disorder +MONDO:0018959 potassium-aggravated myotonia MONDO:0016110 NCIT:C122788 NCIT:C122787 obsolete non-dystrophic myopathy +MONDO:0019015 omphalocele MONDO:0000839 NCIT:C98997 NCIT:C2849 obsolete congenital abnormality +MONDO:0019174 obsolete infantile Refsum disease MONDO:0019234 NCIT:C84789 NCIT:C146639 peroxisome biogenesis disorder +MONDO:0019350 hereditary spherocytosis MONDO:0020101 NCIT:C97074 NCIT:C101218 obsolete constitutional hemolytic anemia due to membrane defect +MONDO:0019359 Rocky mountain spotted fever MONDO:0044746 NCIT:C128410 NCIT:C35373 obsolete zoonotic bacterial infection +MONDO:0019362 epidemic louse-borne typhus MONDO:0044746 NCIT:C84689 NCIT:C35373 obsolete zoonotic bacterial infection +MONDO:0019805 twin to twin transfusion syndrome MONDO:0000839 NCIT:C113824 NCIT:C2849 obsolete congenital abnormality MONDO:0020078 obsolete acute myeloid leukemia with recurrent genetic anomaly MONDO:0018874 NCIT:C7175 NCIT:C3171 acute myeloid leukemia +MONDO:0020101 obsolete constitutional hemolytic anemia due to membrane defect MONDO:0003689 NCIT:C101218 NCIT:C34379 familial hemolytic anemia +MONDO:0020153 cryptophthalmia MONDO:0000839 NCIT:C124520 NCIT:C2849 obsolete congenital abnormality +MONDO:0020236 obsolete lens position anomaly MONDO:0001176 NCIT:C125484 NCIT:C26812 lens disorder +MONDO:0021200 obsolete rare disease MONDO:0000001 NCIT:C4873 NCIT:C2991 disease MONDO:0021350 neoplasm of thorax MONDO:0000651 NCIT:C3406 NCIT:C35742 obsolete thoracic disorder MONDO:0021386 neoplasm of mediastinum MONDO:0043707 NCIT:C3221 NCIT:C26826 obsolete mediastinal disorder +MONDO:0021559 non-autoimmune hemolytic anemia MONDO:0015911 NCIT:C34853 NCIT:C34377 obsolete rare acquired hemolytic anemia +MONDO:0022578 childhood bladder carcinoma MONDO:0036491 NCIT:C118816 NCIT:C114451 obsolete rare childhood malignant neoplasm +MONDO:0024623 otorhinolaryngologic disease MONDO:0021059 NCIT:C118420 NCIT:C27571 obsolete head or neck disorder/disorder MONDO:0024645 retroperitoneal neoplasm MONDO:0020595 NCIT:C3357 NCIT:C27667 obsolete disorder of retroperitoneum +MONDO:0024654 skull disorder MONDO:0021059 NCIT:C27655 NCIT:C27571 obsolete head or neck disorder/disorder +MONDO:0025303 anaplasmosis MONDO:0044746 NCIT:C128425 NCIT:C35373 obsolete zoonotic bacterial infection +MONDO:0025481 obsolete zoonosis MONDO:0005550 NCIT:C35803 NCIT:C26726 infectious disease +MONDO:0035112 acute myeloid leukemia with BCR-ABL1 MONDO:0020078 NCIT:C129785 NCIT:C7175 obsolete acute myeloid leukemia with recurrent genetic anomaly MONDO:0036491 obsolete rare childhood malignant neoplasm MONDO:0006517 NCIT:C114451 NCIT:C4005 childhood malignant neoplasm MONDO:0036491 obsolete rare childhood malignant neoplasm MONDO:0021200 NCIT:C114451 NCIT:C4873 obsolete rare disease +MONDO:0041161 obsolete endometrial hyperplasia MONDO:0000931 NCIT:C3013 NCIT:C3504 endometrial disorder MONDO:0042494 childhood malignant melanoma MONDO:0036491 NCIT:C131506 NCIT:C114451 obsolete rare childhood malignant neoplasm -MONDO:0044923 acute myeloid leukemia with mutated NPM1 MONDO:0020078 NCIT:C82431 NCIT:C7175 obsolete acute myeloid leukemia with recurrent genetic anomaly +MONDO:0043606 obsolete pathologic fracture MONDO:0005315 NCIT:C3047 NCIT:C3046 bone fracture +MONDO:0043707 obsolete mediastinal disorder MONDO:0000651 NCIT:C26826 NCIT:C35742 obsolete thoracic disorder +MONDO:0044746 obsolete zoonotic bacterial infection MONDO:0005113 NCIT:C35373 NCIT:C2890 bacterial infectious disease +MONDO:0044746 obsolete zoonotic bacterial infection MONDO:0025481 NCIT:C35373 NCIT:C35803 obsolete zoonosis MONDO:0100375 acute myeloid leukemia, t(15;17)(q24;q21) MONDO:0020078 NCIT:C36055 NCIT:C7175 obsolete acute myeloid leukemia with recurrent genetic anomaly MONDO:0100382 acute myeloid leukemia, t(6;9)(p23;q34.1) MONDO:0020078 NCIT:C82423 NCIT:C7175 obsolete acute myeloid leukemia with recurrent genetic anomaly +MONDO:0100389 acute myeloid leukemia, Trisomy 8 MONDO:0020078 NCIT:C162775 NCIT:C7175 obsolete acute myeloid leukemia with recurrent genetic anomaly MONDO:0100404 acute myeloid leukemia, MLL gene rearrangement MONDO:0020078 NCIT:C174129 NCIT:C7175 obsolete acute myeloid leukemia with recurrent genetic anomaly -MONDO:0100415 acute myeloid leukemia, FLT3 internal tandem duplication MONDO:0020078 NCIT:C126748 NCIT:C7175 obsolete acute myeloid leukemia with recurrent genetic anomaly diff --git a/src/ontology/reports/ncit.subclass.added.robot.tsv b/src/ontology/reports/ncit.subclass.added.robot.tsv index 17ef17fb..c6c81282 100644 --- a/src/ontology/reports/ncit.subclass.added.robot.tsv +++ b/src/ontology/reports/ncit.subclass.added.robot.tsv @@ -1,6 +1,9 @@ subject_mondo_id subject_mondo_label object_mondo_id subject_source_id object_source_id object_mondo_label -ID AI MONDO:excluded_subClassOf >A oboInOwl:source +ID AI obo:mondo#excluded_subClassOf >A oboInOwl:source +MONDO:0000159 bone marrow failure syndrome MONDO:0002254 NCIT:C165614 NCIT:C28193 syndromic disease +MONDO:0000171 muscular dystrophy-dystroglycanopathy, type A MONDO:0002254 NCIT:C99109 NCIT:C28193 syndromic disease MONDO:0000432 lymphoplasmacytic lymphoma MONDO:0017594 NCIT:C3212 NCIT:C171299 indolent B-cell non-Hodgkin lymphoma +MONDO:0000437 cerebellar ataxia MONDO:0005559 NCIT:C82341 NCIT:C4802 neurodegenerative disease MONDO:0000502 villous adenoma MONDO:0006180 NCIT:C7399 NCIT:C36207 digestive system adenoma MONDO:0000525 cecum villous adenoma MONDO:0021464 NCIT:C5520 NCIT:C4772 benign neoplasm of cecum MONDO:0000527 colon adenoma MONDO:0002278 NCIT:C3864 NCIT:C2894 benign colon neoplasm @@ -11,28 +14,46 @@ MONDO:0000607 primary cutaneous T-cell non-Hodgkin lymphoma MONDO:0000430 NCIT:C MONDO:0000618 Her2-receptor negative breast cancer MONDO:0004988 NCIT:C168519 NCIT:C5214 breast adenocarcinoma MONDO:0000625 benign male reproductive system neoplasm MONDO:0024582 NCIT:C4777 NCIT:C3054 male reproductive system neoplasm MONDO:0000627 benign endocrine neoplasm MONDO:0036976 NCIT:C4621 NCIT:C4092 benign epithelial neoplasm +MONDO:0000665 apraxia MONDO:0005395 NCIT:C180557 NCIT:C116757 movement disorder +MONDO:0000736 dyschromatosis universalis hereditaria MONDO:0002254 NCIT:C173131 NCIT:C28193 syndromic disease +MONDO:0000743 oral hairy leukoplakia MONDO:0024571 NCIT:C3722 NCIT:C4991 AIDS-related disorder +MONDO:0000755 ectopic pregnancy MONDO:0024575 NCIT:C34945 NCIT:C35169 pregnancy disorder MONDO:0000845 fibrous dysplasia MONDO:0000631 NCIT:C34609 NCIT:C4880 bone benign neoplasm MONDO:0000874 T-cell childhood lymphoblastic lymphoma MONDO:0044917 NCIT:C7210 NCIT:C6919 T-lymphoblastic lymphoma MONDO:0000961 endobronchial lipoma MONDO:0002732 NCIT:C5063 NCIT:C4454 lung benign neoplasm MONDO:0000964 skin lipoma MONDO:0044335 NCIT:C4616 NCIT:C4242 benign soft tissue neoplasm MONDO:0000970 breast lipoma MONDO:0044335 NCIT:C4647 NCIT:C4242 benign soft tissue neoplasm +MONDO:0000976 paratesticular lipoma MONDO:0000625 NCIT:C6384 NCIT:C4777 benign male reproductive system neoplasm MONDO:0000976 paratesticular lipoma MONDO:0044335 NCIT:C6384 NCIT:C4242 benign soft tissue neoplasm MONDO:0000996 prostate lymphoma MONDO:0017207 NCIT:C5533 NCIT:C7185 primary organ-specific lymphoma +MONDO:0001029 Klippel-Feil syndrome MONDO:0002254 NCIT:C98967 NCIT:C28193 syndromic disease +MONDO:0001040 nasopharyngitis MONDO:0002258 NCIT:C34837 NCIT:C26851 pharyngitis +MONDO:0001083 Fanconi renotubular syndrome MONDO:0003847 NCIT:C3034 NCIT:C3101 hereditary disease +MONDO:0001147 meningocele MONDO:0001147 NCIT:C101209 NCIT:C105595 meningocele +MONDO:0001147 meningocele MONDO:0700092 NCIT:C105595 NCIT:C89338 neurodevelopmental disorder +MONDO:0001252 Plummer disease MONDO:0005397 NCIT:C35171 NCIT:C26785 goiter +MONDO:0001256 arteriovenous hemangioma/malformation MONDO:0024287 NCIT:C2882 NCIT:C112117 congenital vascular malformation MONDO:0001381 bladder lymphoma MONDO:0017207 NCIT:C6164 NCIT:C7185 primary organ-specific lymphoma MONDO:0001417 tracheal lymphoma MONDO:0017207 NCIT:C6248 NCIT:C7185 primary organ-specific lymphoma MONDO:0001426 mediastinum neurofibroma MONDO:0021521 NCIT:C6631 NCIT:C3604 benign neoplasm of mediastinum +MONDO:0001437 pulmonary alveolar proteinosis MONDO:0015925 NCIT:C85037 NCIT:C164315 interstitial lung disease MONDO:0001472 testicular lymphoma MONDO:0017207 NCIT:C6810 NCIT:C7185 primary organ-specific lymphoma MONDO:0001499 retroperitoneal lymphoma MONDO:0017207 NCIT:C7353 NCIT:C7185 primary organ-specific lymphoma +MONDO:0001516 spinal muscular atrophy MONDO:0005336 NCIT:C85075 NCIT:C101216 myopathy MONDO:0001569 acoustic neuroma MONDO:0021221 NCIT:C3276 NCIT:C5120 vestibulocochlear nerve neoplasm MONDO:0001606 central nervous system leukemia MONDO:0002714 NCIT:C5440 NCIT:C4627 central nervous system cancer +MONDO:0001627 dementia MONDO:0005559 NCIT:C4786 NCIT:C4802 neurodegenerative disease +MONDO:0001631 vertebral artery insufficiency MONDO:0020673 NCIT:C35123 NCIT:C35318 arterial occlusion MONDO:0001651 scrotum squamous cell carcinoma MONDO:0002529 NCIT:C4643 NCIT:C4819 skin squamous cell carcinoma MONDO:0001652 scrotum melanoma MONDO:0005012 NCIT:C7361 NCIT:C3510 cutaneous melanoma MONDO:0001652 scrotum melanoma MONDO:0021112 NCIT:C7361 NCIT:C3560 scrotum cancer MONDO:0001748 maxillary sinus carcinoma MONDO:0001748 NCIT:C9332 NCIT:C3540 maxillary sinus carcinoma +MONDO:0001761 favism MONDO:0021559 NCIT:C34607 NCIT:C34853 non-autoimmune hemolytic anemia MONDO:0001778 dermoid cyst of skin MONDO:0021440 NCIT:C4632 NCIT:C2896 benign neoplasm of skin MONDO:0001789 neurofibroma of spinal cord MONDO:0021506 NCIT:C5145 NCIT:C3627 benign neoplasm of spinal cord MONDO:0001975 cavernous hemangioma of orbit MONDO:0001974 NCIT:C4546 NCIT:C6245 hemangioma of orbit MONDO:0001977 ureteral lymphoma MONDO:0017207 NCIT:C6175 NCIT:C7185 primary organ-specific lymphoma +MONDO:0002008 labyrinthitis MONDO:0021666 NCIT:C128369 NCIT:C27193 ear infection MONDO:0002064 breast angiomatosis MONDO:0000620 NCIT:C40381 NCIT:C4505 breast benign neoplasm MONDO:0002064 breast angiomatosis MONDO:0024461 NCIT:C40381 NCIT:C27503 angiomatosis MONDO:0002064 breast angiomatosis MONDO:0044335 NCIT:C40381 NCIT:C4242 benign soft tissue neoplasm @@ -49,6 +70,8 @@ MONDO:0002214 brain germinoma MONDO:0021632 NCIT:C6284 NCIT:C170814 primary brai MONDO:0002216 brain sarcoma MONDO:0021632 NCIT:C5154 NCIT:C170814 primary brain neoplasm MONDO:0002217 central nervous system sarcoma MONDO:0037740 NCIT:C5153 NCIT:C6758 malignant central nervous system mesenchymal, non-meningothelial neoplasm MONDO:0002227 ovarian lymphoma MONDO:0017207 NCIT:C40021 NCIT:C7185 primary organ-specific lymphoma +MONDO:0002243 hemorrhagic disease MONDO:0001531 NCIT:C115221 NCIT:C2902 blood coagulation disease +MONDO:0002269 gastroenteritis MONDO:0043424 NCIT:C34632 NCIT:C35503 digestive system infectious disorder MONDO:0002293 cutaneous ganglioneuroma MONDO:0021440 NCIT:C4481 NCIT:C2896 benign neoplasm of skin MONDO:0002352 larynx cancer MONDO:0021310 NCIT:C7484 NCIT:C4940 malignant tumor of neck MONDO:0002354 benign laryngeal neoplasm MONDO:0021455 NCIT:C3601 NCIT:C4884 benign neoplasm of neck @@ -59,6 +82,7 @@ MONDO:0002380 myoepithelial tumor MONDO:0006424 NCIT:C40392 NCIT:C3377 soft tiss MONDO:0002385 benign cystic nephroma MONDO:0021077 NCIT:C7504 NCIT:C6784 cystic neoplasm MONDO:0002403 synovium cancer MONDO:0024637 NCIT:C6531 NCIT:C4867 malignant soft tissue neoplasm MONDO:0002404 liver hemangioma MONDO:0002405 NCIT:C3869 NCIT:C35442 hepatic vascular disorder +MONDO:0002429 idiopathic interstitial pneumonia MONDO:0015925 NCIT:C35714 NCIT:C164315 interstitial lung disease MONDO:0002447 endometrial carcinoma MONDO:0006003 NCIT:C7558 NCIT:C61574 uterine corpus cancer MONDO:0002472 carcinoma ex pleomorphic adenoma MONDO:0024878 NCIT:C4397 NCIT:C36310 secondary carcinoma MONDO:0002478 mixed germ cell-sex cord-stromal tumor MONDO:0006054 NCIT:C5241 NCIT:C3674 reproductive system neoplasm @@ -74,10 +98,11 @@ MONDO:0002586 thymus cancer MONDO:0003274 NCIT:C4962 NCIT:C3576 thoracic cancer MONDO:0002599 teratocarcinoma MONDO:0005853 NCIT:C3756 NCIT:C3729 malignant mixed neoplasm MONDO:0002599 teratocarcinoma MONDO:0021656 NCIT:C3756 NCIT:C121619 nongerminomatous germ cell tumor MONDO:0002616 mesenchymal cell neoplasm MONDO:0044334 NCIT:C7059 NCIT:C3810 connective and soft tissue neoplasm +MONDO:0002631 conventional osteosarcoma MONDO:0020633 NCIT:C35870 NCIT:C36025 anaplastic cancer +MONDO:0002645 cerebritis MONDO:0024619 NCIT:C27199 NCIT:C27582 central nervous system infectious disorder MONDO:0002649 scrotum Paget disease MONDO:0008177 NCIT:C7728 NCIT:C3302 extramammary Paget disease MONDO:0002650 scrotal carcinoma MONDO:0002656 NCIT:C6389 NCIT:C4914 skin carcinoma MONDO:0002705 breast mucinous cystadenocarcinoma MONDO:0006256 NCIT:C40354 NCIT:C9245 invasive breast carcinoma -MONDO:0002726 cutaneous solitary mastocytoma MONDO:0021048 NCIT:C7138 NCIT:C3217 benign mastocytoma MONDO:0002729 rhabdoid tumor of the kidney MONDO:0036511 NCIT:C8715 NCIT:C123907 childhood malignant kidney neoplasm MONDO:0002734 anal mucinous adenocarcinoma MONDO:0002735 NCIT:C5606 NCIT:C7471 anal canal adenocarcinoma MONDO:0002750 bladder colloid adenocarcinoma MONDO:0004957 NCIT:C39837 NCIT:C26712 mucinous adenocarcinoma @@ -91,13 +116,15 @@ MONDO:0002810 pancreatic serous cystic neoplasm MONDO:0037256 NCIT:C41248 NCIT:C MONDO:0002834 primary prostate urothelial carcinoma MONDO:0040679 NCIT:C39898 NCIT:C4030 urothelial carcinoma MONDO:0002848 skeletal muscle neoplasm MONDO:0021545 NCIT:C6514 NCIT:C4063 myomatous neoplasm MONDO:0002868 bile duct mucinous cystic neoplasm with an associated invasive carcinoma MONDO:0003193 NCIT:C4130 NCIT:C27813 bile duct adenocarcinoma -MONDO:0002872 trophoblastic neoplasm MONDO:0005626 NCIT:C3422 NCIT:C3709 epithelial neoplasm MONDO:0002878 uterine corpus adenosarcoma MONDO:0005210 NCIT:C6336 NCIT:C6339 uterine corpus sarcoma MONDO:0002880 ovarian adenosarcoma MONDO:0002225 NCIT:C7317 NCIT:C8267 ovarian sarcoma MONDO:0002881 vaginal adenosarcoma MONDO:0002140 NCIT:C40277 NCIT:C7737 vagina sarcoma MONDO:0002881 vaginal adenosarcoma MONDO:0037746 NCIT:C40277 NCIT:C40276 malignant vaginal mixed epithelial and mesenchymal neoplasm +MONDO:0002900 cerebral neuroblastoma MONDO:0021632 NCIT:C4826 NCIT:C170814 primary brain neoplasm +MONDO:0002908 glucose metabolism disease MONDO:0019214 NCIT:C53655 NCIT:C97089 inborn carbohydrate metabolic disorder MONDO:0002913 cerebellar neoplasm MONDO:0037736 NCIT:C2935 NCIT:C3139 infratentorial neoplasm MONDO:0002916 brainstem intraparenchymal clear cell meningioma MONDO:0002919 NCIT:C5295 NCIT:C6775 posterior cranial fossa meningioma +MONDO:0002917 disorder of pilosebaceous unit MONDO:0005093 NCIT:C34656 NCIT:C3371 skin disorder MONDO:0002918 clear cell meningioma MONDO:0045056 NCIT:C4722 NCIT:C38937 grade II meningioma MONDO:0002920 malignant ovarian Brenner tumor MONDO:0005140 NCIT:C4270 NCIT:C4908 ovarian carcinoma MONDO:0002978 orbit alveolar rhabdomyosarcoma MONDO:0009994 NCIT:C6247 NCIT:C3749 alveolar rhabdomyosarcoma @@ -107,6 +134,7 @@ MONDO:0002996 cavernous sinus meningioma MONDO:0002997 NCIT:C5268 NCIT:C5286 ant MONDO:0002999 central nervous system germinoma MONDO:0020580 NCIT:C7009 NCIT:C121618 germinomatous germ cell tumor MONDO:0003010 multilocular clear cell renal cell carcinoma MONDO:0021077 NCIT:C4524 NCIT:C6784 cystic neoplasm MONDO:0003031 endometrioid stromal and related neoplasms of the cervix MONDO:0037742 NCIT:C40218 NCIT:C8384 endometrioid stromal and related neoplasms +MONDO:0003038 dysgraphia MONDO:0001276 NCIT:C182452 NCIT:C92562 expressive language disorder MONDO:0003061 benign muscle neoplasm MONDO:0044335 NCIT:C4882 NCIT:C4242 benign soft tissue neoplasm MONDO:0003091 cutaneous mucoepidermoid carcinoma MONDO:0005524 NCIT:C4472 NCIT:C6938 sweat gland carcinoma MONDO:0003107 infratentorial cancer MONDO:0037736 NCIT:C4966 NCIT:C3139 infratentorial neoplasm @@ -115,6 +143,8 @@ MONDO:0003120 mixed testicular germ cell cancer MONDO:0005853 NCIT:C6347 NCIT:C3 MONDO:0003126 breast hemangioma MONDO:0044335 NCIT:C5353 NCIT:C4242 benign soft tissue neoplasm MONDO:0003141 cerebellopontine angle embryonal tumor MONDO:0003142 NCIT:C5436 NCIT:C5817 intracranial primitive neuroectodermal tumor MONDO:0003142 intracranial primitive neuroectodermal tumor MONDO:0021632 NCIT:C5817 NCIT:C170814 primary brain neoplasm +MONDO:0003143 angiokeratoma MONDO:0003143 NCIT:C4488 NCIT:C2874 angiokeratoma +MONDO:0003143 angiokeratoma MONDO:0021658 NCIT:C2874 NCIT:C45481 vascular ectasia MONDO:0003145 supratentorial primitive neuroectodermal tumor MONDO:0003142 NCIT:C6968 NCIT:C5817 intracranial primitive neuroectodermal tumor MONDO:0003212 nasal cavity carcinoma MONDO:0056819 NCIT:C9336 NCIT:C54293 nasal cavity and paranasal sinus carcinoma MONDO:0003261 papillary meningioma of the cerebellum MONDO:0021317 NCIT:C5270 NCIT:C3569 cancer of cerebellum @@ -131,44 +161,41 @@ MONDO:0003446 papillary hidradenoma MONDO:0021489 NCIT:C4171 NCIT:C4879 benign n MONDO:0003459 cervical adenofibroma MONDO:0006071 NCIT:C40230 NCIT:C8984 adenofibroma MONDO:0003463 ovarian endometrioid adenofibroma MONDO:0006071 NCIT:C27287 NCIT:C8984 adenofibroma MONDO:0003499 sarcomatoid squamous cell skin carcinoma MONDO:0021663 NCIT:C4666 NCIT:C27084 sarcomatoid squamous cell carcinoma -MONDO:0003507 choriocarcinoma of ovary MONDO:0005140 NCIT:C4515 NCIT:C4908 ovarian carcinoma MONDO:0003519 malignant syringoma MONDO:0005524 NCIT:C7581 NCIT:C6938 sweat gland carcinoma MONDO:0003538 precursor lymphoblastic lymphoma/leukemia MONDO:0004992 NCIT:C7055 NCIT:C9305 cancer MONDO:0003539 T-cell adult acute lymphocytic leukemia MONDO:0004963 NCIT:C9142 NCIT:C3183 T-cell acute lymphoblastic leukemia MONDO:0003557 optic nerve sheath meningioma MONDO:0024648 NCIT:C4538 NCIT:C5587 optic tract meningioma MONDO:0003565 urethral villous adenoma MONDO:0004177 NCIT:C39872 NCIT:C3619 benign urethral neoplasm -MONDO:0003575 comedocarcinoma MONDO:0004970 NCIT:C4188 NCIT:C2852 adenocarcinoma MONDO:0003595 sclerosing liposarcoma MONDO:0006097 NCIT:C6507 NCIT:C6505 atypical lipomatous tumor MONDO:0003596 spindle cell liposarcoma MONDO:0044983 NCIT:C27489 NCIT:C4502 benign lipomatous neoplasm -MONDO:0003602 intracranial liposarcoma MONDO:0002216 NCIT:C6973 NCIT:C5154 brain sarcoma +MONDO:0003602 intracranial liposarcoma MONDO:0002217 NCIT:C6973 NCIT:C5153 central nervous system sarcoma MONDO:0003635 sebaceous breast carcinoma MONDO:0004953 NCIT:C40369 NCIT:C4194 invasive ductal breast carcinoma MONDO:0003655 cerebral lymphoma MONDO:0021632 NCIT:C7611 NCIT:C170814 primary brain neoplasm MONDO:0003661 breast lymphoma MONDO:0017207 NCIT:C4671 NCIT:C7185 primary organ-specific lymphoma MONDO:0003666 fallopian tube endometrioid adenocarcinoma MONDO:0021576 NCIT:C6279 NCIT:C40111 fallopian tube endometrioid tumor MONDO:0003685 retroperitoneal germ cell neoplasm MONDO:0018201 NCIT:C6447 NCIT:C3918 extragonadal germ cell tumor +MONDO:0003689 familial hemolytic anemia MONDO:0000577 NCIT:C34379 NCIT:C35228 congenital anemia MONDO:0003702 uterus intravascular leiomyomatosis MONDO:0007886 NCIT:C5356 NCIT:C3434 uterine corpus leiomyoma MONDO:0003710 ovarian mixed germ cell neoplasm MONDO:0005853 NCIT:C8114 NCIT:C3729 malignant mixed neoplasm MONDO:0003722 internal auditory canal meningioma MONDO:0002998 NCIT:C5307 NCIT:C5272 skull base meningioma +MONDO:0003733 central nervous system mature teratoma MONDO:0000648 NCIT:C7013 NCIT:C4789 nervous system benign neoplasm MONDO:0003735 central nervous system immature teratoma MONDO:0024857 NCIT:C7014 NCIT:C8884 immature extragonadal teratoma -MONDO:0003741 juvenile type testicular granulosa cell tumor MONDO:0037250 NCIT:C39947 NCIT:C5053 childhood testicular neoplasm MONDO:0003743 heart malignant hemangiopericytoma MONDO:0009330 NCIT:C5365 NCIT:C4301 hemangiopericytoma, malignant MONDO:0003756 ovarian mucinous neoplasm MONDO:0024338 NCIT:C5242 NCIT:C7070 mucinous neoplasm MONDO:0003760 pediatric ovarian germ cell tumor MONDO:0020577 NCIT:C8588 NCIT:C114801 childhood gonadal germ cell tumor MONDO:0003772 cerebral meningioma MONDO:0021632 NCIT:C4807 NCIT:C170814 primary brain neoplasm -MONDO:0003828 growth hormone-producing pituitary gland carcinoma MONDO:0006238 NCIT:C5963 NCIT:C7461 growth hormone-producing pituitary gland adenoma MONDO:0003828 growth hormone-producing pituitary gland carcinoma MONDO:0017582 NCIT:C5963 NCIT:C4536 pituitary adenocarcinoma MONDO:0003836 malignant thyroid stimulating hormone producing neoplasm of pituitary gland MONDO:0017582 NCIT:C5965 NCIT:C4536 pituitary adenocarcinoma MONDO:0003857 adult intracranial malignant hemangiopericytoma MONDO:0021632 NCIT:C9183 NCIT:C170814 primary brain neoplasm MONDO:0003860 cerebellopontine angle meningioma MONDO:0002919 NCIT:C5300 NCIT:C6775 posterior cranial fossa meningioma MONDO:0003887 ovarian mucinous adenofibroma MONDO:0036915 NCIT:C40040 NCIT:C40039 benign ovarian mucinous tumor -MONDO:0003893 rete testis adenoma MONDO:0021077 NCIT:C39956 NCIT:C6784 cystic neoplasm +MONDO:0003893 rete testis adenoma MONDO:0000625 NCIT:C39956 NCIT:C4777 benign male reproductive system neoplasm MONDO:0003898 pediatric myxoid chondrosarcoma MONDO:0012825 NCIT:C27377 NCIT:C27502 extraskeletal myxoid chondrosarcoma MONDO:0003910 mixed cell uveal melanoma MONDO:0006749 NCIT:C35781 NCIT:C66756 mixed epithelioid and spindle cell melanoma MONDO:0003917 heart lymphoma MONDO:0017207 NCIT:C5368 NCIT:C7185 primary organ-specific lymphoma MONDO:0003922 ovarian clear cell malignant adenofibroma MONDO:0002991 NCIT:C40079 NCIT:C40035 adenocarcinofibroma MONDO:0003931 childhood optic tract astrocytoma MONDO:0003932 NCIT:C7534 NCIT:C7535 childhood optic nerve glioma MONDO:0003935 oncocytic breast carcinoma MONDO:0004953 NCIT:C40366 NCIT:C4194 invasive ductal breast carcinoma -MONDO:0003955 juvenile breast papillomatosis MONDO:0004253 NCIT:C9503 NCIT:C5201 intraductal breast papillomatosis MONDO:0003980 schwannoma of jugular foramen MONDO:0021455 NCIT:C5323 NCIT:C4884 benign neoplasm of neck MONDO:0003985 chest wall lymphoma MONDO:0017207 NCIT:C6712 NCIT:C7185 primary organ-specific lymphoma MONDO:0003987 lung lymphoma MONDO:0017207 NCIT:C4794 NCIT:C7185 primary organ-specific lymphoma @@ -180,18 +207,19 @@ MONDO:0004032 ovarian seromucinous carcinoma MONDO:0005140 NCIT:C40090 NCIT:C490 MONDO:0004034 eye lymphoma MONDO:0017207 NCIT:C35690 NCIT:C7185 primary organ-specific lymphoma MONDO:0004048 immature gastric teratoma MONDO:0024857 NCIT:C5256 NCIT:C8884 immature extragonadal teratoma MONDO:0004057 micropapillary variant infiltrating bladder urothelial carcinoma MONDO:0004056 NCIT:C27202 NCIT:C7383 bladder papillary urothelial carcinoma +MONDO:0004058 pancreatic cholera MONDO:0045072 NCIT:C3488 NCIT:C4065 ectopic hormone secretion syndrome associated with neoplasia MONDO:0004096 spinal cord dermoid cyst MONDO:0021506 NCIT:C6808 NCIT:C3627 benign neoplasm of spinal cord MONDO:0004100 lung mixed small cell and squamous cell carcinoma MONDO:0003438 NCIT:C9423 NCIT:C9137 combined small cell lung carcinoma MONDO:0004108 diaphragma sellae meningioma MONDO:0004312 NCIT:C5283 NCIT:C6776 suprasellar meningioma MONDO:0004111 refractory hematologic cancer MONDO:0036501 NCIT:C27357 NCIT:C120186 refractory malignant neoplasm MONDO:0004134 benign dermal neurilemmoma MONDO:0004820 NCIT:C5569 NCIT:C41430 peripheral nerve schwannoma +MONDO:0004135 subacute lymphocytic thyroiditis MONDO:0006982 NCIT:C35829 NCIT:C35071 subacute thyroiditis MONDO:0004158 pancreatic mucinous-cystic neoplasm with an associated invasive carcinoma MONDO:0040677 NCIT:C41246 NCIT:C9480 invasive carcinoma MONDO:0004158 pancreatic mucinous-cystic neoplasm with an associated invasive carcinoma MONDO:0044879 NCIT:C41246 NCIT:C41247 pancreatic mucinous-cystic neoplasm MONDO:0004164 lymphoepithelioma-like acinar prostate adenocarcinoma MONDO:0003572 NCIT:C39885 NCIT:C4107 nasopharyngeal type undifferentiated carcinoma MONDO:0004217 childhood brain germinoma MONDO:0004218 NCIT:C6207 NCIT:C5795 childhood germ cell brain tumor MONDO:0004218 childhood germ cell brain tumor MONDO:0021632 NCIT:C5795 NCIT:C170814 primary brain neoplasm MONDO:0004223 polyp of middle ear MONDO:0021482 NCIT:C6933 NCIT:C4602 benign neoplasm of middle ear -MONDO:0004225 monoclonal gammopathy of uncertain significance MONDO:0004949 NCIT:C3996 NCIT:C27910 neoplasm of mature B-cells MONDO:0004230 adenomatoid tumor MONDO:0005165 NCIT:C3762 NCIT:C3677 benign neoplasm MONDO:0004238 petrous apex meningioma MONDO:0002998 NCIT:C5271 NCIT:C5272 skull base meningioma MONDO:0004248 pediatric infratentorial ependymoma MONDO:0003478 NCIT:C9041 NCIT:C8578 childhood ependymoma @@ -203,10 +231,9 @@ MONDO:0004339 tuberculum sellae meningioma MONDO:0004312 NCIT:C5284 NCIT:C6776 s MONDO:0004340 mixed ductal-endocrine carcinoma of pancreas MONDO:0044727 NCIT:C6879 NCIT:C45843 pancreatic carcinoma with mixed differentiation MONDO:0004351 intraocular lymphoma MONDO:0018908 NCIT:C9184 NCIT:C3211 non-Hodgkin lymphoma MONDO:0004353 extrahepatic biliary papillomatosis MONDO:0021385 NCIT:C7124 NCIT:C4441 extrahepatic bile duct neoplasm -MONDO:0004356 childhood multilocular cystic kidney neoplasm MONDO:0021077 NCIT:C6566 NCIT:C6784 cystic neoplasm MONDO:0004371 spinal multifocal clear cell meningioma MONDO:0001279 NCIT:C5287 NCIT:C5134 intraspinal meningioma +MONDO:0004382 laryngeal disorder MONDO:0024623 NCIT:C26810 NCIT:C118420 otorhinolaryngologic disease MONDO:0004385 adult xanthogranuloma MONDO:0021440 NCIT:C27514 NCIT:C2896 benign neoplasm of skin -MONDO:0004392 intracranial extraskeletal myxoid chondrosarcoma MONDO:0002216 NCIT:C5462 NCIT:C5154 brain sarcoma MONDO:0004412 malignant spiradenoma MONDO:0024878 NCIT:C5117 NCIT:C36310 secondary carcinoma MONDO:0004439 periocular meningioma MONDO:0002888 NCIT:C6777 NCIT:C6778 intraorbital meningioma MONDO:0004447 pituitary stalk meningioma MONDO:0004312 NCIT:C5311 NCIT:C6776 suprasellar meningioma @@ -220,61 +247,94 @@ MONDO:0004550 malignant cornea melanoma MONDO:0006320 NCIT:C4553 NCIT:C8711 non- MONDO:0004560 follicular infundibulum tumor MONDO:0002093 NCIT:C4469 NCIT:C7419 acanthoma MONDO:0004561 retinal melanoma MONDO:0006320 NCIT:C8601 NCIT:C8711 non-cutaneous melanoma MONDO:0004562 breast apocrine carcinoma in situ MONDO:0003934 NCIT:C5140 NCIT:C5141 breast apocrine carcinoma +MONDO:0004582 rheumatic myocarditis MONDO:0002815 NCIT:C35202 NCIT:C35206 acute myocarditis +MONDO:0004582 rheumatic myocarditis MONDO:0021777 NCIT:C35202 NCIT:C34985 acute rheumatic heart disease MONDO:0004699 gastrointestinal lymphoma MONDO:0017207 NCIT:C38162 NCIT:C7185 primary organ-specific lymphoma MONDO:0004752 neurofibroma of the heart MONDO:0021450 NCIT:C5359 NCIT:C3605 benign neoplasm of heart MONDO:0004756 nasal cavity neoplasm MONDO:0056820 NCIT:C4413 NCIT:C7336 nasal cavity and paranasal sinus neoplasm +MONDO:0004787 cervical mullerian papilloma MONDO:0021078 NCIT:C40215 NCIT:C6880 glandular papilloma +MONDO:0004795 otitis externa MONDO:0004795 NCIT:C3299 NCIT:C79601 otitis externa MONDO:0004837 neurofibroma of the esophagus MONDO:0021459 NCIT:C5704 NCIT:C3598 benign neoplasm of esophagus +MONDO:0004842 stomatitis MONDO:0000888 NCIT:C26887 NCIT:C3853 gastrointestinal mucositis MONDO:0004942 orbit lymphoma MONDO:0017207 NCIT:C6244 NCIT:C7185 primary organ-specific lymphoma MONDO:0004943 orbit sarcoma MONDO:0018078 NCIT:C6095 NCIT:C9306 soft tissue sarcoma MONDO:0004948 B-cell chronic lymphocytic leukemia MONDO:0003864 NCIT:C3163 NCIT:C27911 chronic lymphocytic leukemia/small lymphocytic lymphoma MONDO:0004963 T-cell acute lymphoblastic leukemia MONDO:0003537 NCIT:C3183 NCIT:C8694 precursor T-lymphoblastic lymphoma/leukemia MONDO:0004964 peripheral T-cell lymphoma, not otherwise specified MONDO:0000430 NCIT:C4340 NCIT:C3468 mature T-cell and NK-cell non-Hodgkin lymphoma +MONDO:0004994 cardiomyopathy MONDO:0024643 NCIT:C34830 NCIT:C35544 myocardial disorder MONDO:0005006 clear cell sarcoma of kidney MONDO:0036511 NCIT:C4264 NCIT:C123907 childhood malignant kidney neoplasm +MONDO:0005011 Crohn disease MONDO:0043579 NCIT:C2965 NCIT:C26765 enteritis MONDO:0005026 endometrioid adenocarcinoma MONDO:0002480 NCIT:C3769 NCIT:C7113 endometrioid tumor MONDO:0005033 ganglioneuroma MONDO:0000648 NCIT:C3049 NCIT:C4789 nervous system benign neoplasm MONDO:0005059 leukemia MONDO:0004992 NCIT:C3161 NCIT:C9305 cancer MONDO:0005062 lymphoma MONDO:0004992 NCIT:C3208 NCIT:C9305 cancer +MONDO:0005080 portal hypertension MONDO:0005044 NCIT:C3119 NCIT:C3117 hypertensive disorder MONDO:0005089 sarcoma MONDO:0044334 NCIT:C9118 NCIT:C3810 connective and soft tissue neoplasm +MONDO:0005095 spondyloarthropathy MONDO:0005578 NCIT:C116778 NCIT:C2883 arthritic joint disease +MONDO:0005095 spondyloarthropathy MONDO:0021166 NCIT:C116778 NCIT:C93210 inflammatory disease MONDO:0005105 melanoma MONDO:0004992 NCIT:C3224 NCIT:C9305 cancer +MONDO:0005137 nutritional disorder MONDO:0005066 NCIT:C26836 NCIT:C3235 metabolic disease +MONDO:0005156 encephalomyelitis MONDO:0024619 NCIT:C34580 NCIT:C27582 central nervous system infectious disorder MONDO:0005157 lymphoid neoplasm MONDO:0016537 NCIT:C7065 NCIT:C9308 lymphoproliferative syndrome MONDO:0005166 osteoma MONDO:0045052 NCIT:C3296 NCIT:C6602 benign osteogenic neoplasm MONDO:0005177 serous cystadenoma MONDO:0037256 NCIT:C3783 NCIT:C7074 serous neoplasm MONDO:0005191 metastatic melanoma MONDO:0024880 NCIT:C8925 NCIT:C36263 metastatic malignant neoplasm MONDO:0005197 thymus neoplasm MONDO:0021350 NCIT:C3412 NCIT:C3406 neoplasm of thorax MONDO:0005198 vulvar intraepithelial neoplasia MONDO:0024475 NCIT:C4756 NCIT:C8334 squamous cell intraepithelial neoplasia -MONDO:0005207 choriocarcinoma MONDO:0004993 NCIT:C2948 NCIT:C2916 carcinoma +MONDO:0005207 choriocarcinoma MONDO:0004992 NCIT:C2948 NCIT:C9305 cancer MONDO:0005210 uterine corpus sarcoma MONDO:0018078 NCIT:C6339 NCIT:C9306 soft tissue sarcoma MONDO:0005212 rhabdomyosarcoma MONDO:0002847 NCIT:C3359 NCIT:C6516 skeletal muscle cancer +MONDO:0005244 peripheral neuropathy MONDO:0005244 NCIT:C119734 NCIT:C4731 peripheral neuropathy +MONDO:0005265 inflammatory bowel disease MONDO:0021166 NCIT:C3138 NCIT:C93210 inflammatory disease MONDO:0005272 myelodysplastic syndrome with single lineage dysplasia MONDO:0005272 NCIT:C2872 NCIT:C82591 myelodysplastic syndrome with single lineage dysplasia MONDO:0005278 serous adenocarcinoma MONDO:0037256 NCIT:C40101 NCIT:C7074 serous neoplasm MONDO:0005289 paranasal sinus neoplasm MONDO:0056820 NCIT:C7488 NCIT:C7336 nasal cavity and paranasal sinus neoplasm +MONDO:0005380 osteonecrosis MONDO:0005380 NCIT:C35476 NCIT:C34880 osteonecrosis +MONDO:0005387 primary ovarian failure MONDO:0001889 NCIT:C113352 NCIT:C113351 ovarian dysfunction +MONDO:0005388 primary biliary cholangitis MONDO:0004786 NCIT:C27167 NCIT:C35335 chronic cholangitis +MONDO:0005391 restless legs syndrome MONDO:0002254 NCIT:C84501 NCIT:C28193 syndromic disease +MONDO:0005393 gout MONDO:0005578 NCIT:C34650 NCIT:C2883 arthritic joint disease MONDO:0005438 metastatic malignant neoplasm in the lymph nodes MONDO:0024880 NCIT:C4904 NCIT:C36263 metastatic malignant neoplasm +MONDO:0005446 cutaneous leishmaniasis MONDO:0005446 NCIT:C34770 NCIT:C34768 cutaneous leishmaniasis +MONDO:0005446 cutaneous leishmaniasis MONDO:0021201 NCIT:C34768 NCIT:C35025 skin infection MONDO:0005462 primitive neuroectodermal tumor MONDO:0005872 NCIT:C3716 NCIT:C4788 nervous system cancer MONDO:0005484 colorectal adenoma MONDO:0021444 NCIT:C5673 NCIT:C4610 benign neoplasm of large intestine +MONDO:0005492 urticaria MONDO:0000605 NCIT:C3432 NCIT:C3114 hypersensitivity reaction disease MONDO:0005505 dysembryoplastic neuroepithelial tumor MONDO:0021632 NCIT:C9505 NCIT:C170814 primary brain neoplasm +MONDO:0005550 infectious disease MONDO:0021166 NCIT:C26726 NCIT:C93210 inflammatory disease +MONDO:0005554 rheumatic disorder MONDO:0005046 NCIT:C27204 NCIT:C3507 immune system disorder MONDO:0005605 transitional cell papilloma MONDO:0037254 NCIT:C4115 NCIT:C6783 transitional cell neoplasm +MONDO:0005615 plasmacytoma MONDO:0004992 NCIT:C9349 NCIT:C9305 cancer MONDO:0005636 adenosarcoma MONDO:0044337 NCIT:C9474 NCIT:C6926 stromal sarcoma +MONDO:0005672 blastomycosis MONDO:0005672 NCIT:C34429 NCIT:C34428 blastomycosis +MONDO:0005709 common cold MONDO:0020600 NCIT:C34500 NCIT:C34355 acute pharyngitis +MONDO:0005832 lymphangitis MONDO:0005550 NCIT:C34790 NCIT:C26726 infectious disease +MONDO:0005834 lymphogranuloma venereum MONDO:0020590 NCIT:C26822 NCIT:C26831 mycobacterial infectious disease +MONDO:0005835 Lynch syndrome MONDO:0021190 NCIT:C8494 NCIT:C7757 DNA repair disease +MONDO:0005859 mucocutaneous leishmaniasis MONDO:0005446 NCIT:C34769 NCIT:C34768 cutaneous leishmaniasis MONDO:0005864 muscle cancer MONDO:0021545 NCIT:C4883 NCIT:C4063 myomatous neoplasm +MONDO:0005993 Trichomonas vaginitis urogenital infection MONDO:0023557 NCIT:C35083 NCIT:C84353 infective vaginitis MONDO:0006059 nasal cavity squamous cell carcinoma MONDO:0044787 NCIT:C8192 NCIT:C68611 nasal cavity and paranasal sinus squamous cell carcinoma MONDO:0006060 nasopharyngeal squamous cell carcinoma MONDO:0000536 NCIT:C167265 NCIT:C102872 pharyngeal squamous cell carcinoma MONDO:0006060 nasopharyngeal squamous cell carcinoma MONDO:0015459 NCIT:C167265 NCIT:C3871 nasopharyngeal carcinoma -MONDO:0006069 ACTH-producing pituitary gland carcinoma MONDO:0006068 NCIT:C5964 NCIT:C7462 ACTH-producing pituitary gland adenoma +MONDO:0006078 AIDS-related primary central nervous system lymphoma MONDO:0002571 NCIT:C8284 NCIT:C9301 primary central nervous system lymphoma MONDO:0006088 appendix adenoma MONDO:0021465 NCIT:C43550 NCIT:C4773 benign neoplasm of appendix MONDO:0006107 benign thyroid gland neoplasm MONDO:0021455 NCIT:C3628 NCIT:C4884 benign neoplasm of neck MONDO:0006111 bladder flat intraepithelial lesion MONDO:0004647 NCIT:C37266 NCIT:C2917 in situ carcinoma MONDO:0006116 breast carcinoma by gene expression profile MONDO:0004988 NCIT:C53553 NCIT:C5214 breast adenocarcinoma MONDO:0006123 cardiac rhabdomyoma MONDO:0021509 NCIT:C6739 NCIT:C4607 benign neoplasm of myocardium MONDO:0006141 cervical villoglandular adenocarcinoma MONDO:0000554 NCIT:C40208 NCIT:C127907 endocervical adenocarcinoma -MONDO:0006176 cribriform carcinoma MONDO:0004970 NCIT:C3680 NCIT:C2852 adenocarcinoma MONDO:0006180 digestive system adenoma MONDO:0000385 NCIT:C36207 NCIT:C4787 benign digestive system neoplasm +MONDO:0006188 EBV-positive T-cell lymphoproliferative disorder of childhood MONDO:0006517 NCIT:C80373 NCIT:C4005 childhood malignant neoplasm MONDO:0006190 endolymphatic sac tumor MONDO:0002512 NCIT:C67560 NCIT:C2853 papillary adenocarcinoma MONDO:0006195 endometrial polyp MONDO:0021525 NCIT:C6433 NCIT:C3608 benign neoplasm of corpus uteri MONDO:0006207 fallopian tube carcinosarcoma MONDO:0021576 NCIT:C40124 NCIT:C40111 fallopian tube endometrioid tumor MONDO:0006214 follicular variant thyroid gland papillary carcinoma MONDO:0005075 NCIT:C126594 NCIT:C4035 thyroid gland papillary carcinoma MONDO:0006216 gallbladder adenoma MONDO:0021503 NCIT:C7720 NCIT:C4440 benign neoplasm of gallbladder MONDO:0006221 gastric adenoma MONDO:0021449 NCIT:C7699 NCIT:C3599 benign neoplasm of stomach -MONDO:0006222 gastric choriocarcinoma MONDO:0004950 NCIT:C95749 NCIT:C4911 gastric carcinoma MONDO:0006223 gastric diffuse large B-cell lymphoma MONDO:0042493 NCIT:C5253 NCIT:C27235 gastric non-hodgkin lymphoma +MONDO:0006246 high grade surface osteosarcoma MONDO:0020633 NCIT:C53958 NCIT:C36025 anaplastic cancer +MONDO:0006249 hyperplastic polyp MONDO:0024292 NCIT:C4083 NCIT:C35516 gastrointestinal polyp MONDO:0006270 lobular breast carcinoma in situ MONDO:0000552 NCIT:C4018 NCIT:C3771 breast lobular carcinoma MONDO:0006280 lung sclerosing hemangioma MONDO:0003422 NCIT:C5656 NCIT:C4455 lung adenoma MONDO:0006282 lymphangiosarcoma MONDO:0036870 NCIT:C3205 NCIT:C3723 lymphatic vessel neoplasm @@ -282,54 +342,181 @@ MONDO:0006283 lymphoepithelioma-like lung carcinoma MONDO:0003572 NCIT:C45519 NC MONDO:0006317 neurothekeoma MONDO:0000648 NCIT:C7018 NCIT:C4789 nervous system benign neoplasm MONDO:0006368 phosphaturic mesenchymal tumor MONDO:0002616 NCIT:C67237 NCIT:C7059 mesenchymal cell neoplasm MONDO:0006377 pleural biphasic mesothelioma MONDO:0005112 NCIT:C45665 NCIT:C7376 malignant pleural mesothelioma +MONDO:0006382 poorly differentiated thyroid gland carcinoma MONDO:0024622 NCIT:C6040 NCIT:C27380 thyroid gland adenocarcinoma MONDO:0006385 primary intraosseous squamous cell carcinoma MONDO:0004958 NCIT:C54295 NCIT:C4833 oral cavity squamous cell carcinoma -MONDO:0006388 prolactin-producing pituitary gland carcinoma MONDO:0010911 NCIT:C5962 NCIT:C3342 prolactin-producing pituitary gland adenoma MONDO:0006411 sinonasal undifferentiated carcinoma MONDO:0056819 NCIT:C54294 NCIT:C54293 nasal cavity and paranasal sinus carcinoma -MONDO:0006412 sinus histiocytosis with massive lymphadenopathy MONDO:0006247 NCIT:C36075 NCIT:C9294 histiocytic and dendritic cell neoplasm MONDO:0006438 synovial chondromatosis MONDO:0024715 NCIT:C34467 NCIT:C3829 benign synovial neoplasm MONDO:0006447 testicular non-seminomatous germ cell tumor MONDO:0021656 NCIT:C9313 NCIT:C121619 nongerminomatous germ cell tumor MONDO:0006450 therapy-related myeloid neoplasm MONDO:0024881 NCIT:C27912 NCIT:C4968 secondary malignant neoplasm MONDO:0006465 thyroid gland oncocytic follicular carcinoma MONDO:0005034 NCIT:C4946 NCIT:C8054 thyroid gland follicular carcinoma -MONDO:0006467 thyroid gland squamous cell carcinoma MONDO:0006468 NCIT:C46008 NCIT:C3878 thyroid gland undifferentiated (anaplastic) carcinoma MONDO:0006474 transitional cell carcinoma MONDO:0037254 NCIT:C2930 NCIT:C6783 transitional cell neoplasm MONDO:0006486 uveal melanoma MONDO:0006320 NCIT:C7712 NCIT:C8711 non-cutaneous melanoma MONDO:0006489 vaginal melanoma MONDO:0001402 NCIT:C27394 NCIT:C7410 vaginal cancer MONDO:0006490 vaginal squamous cell carcinoma MONDO:0006490 NCIT:C7736 NCIT:C180915 vaginal squamous cell carcinoma +MONDO:0006497 cerebral palsy MONDO:0005559 NCIT:C34460 NCIT:C4802 neurodegenerative disease +MONDO:0006580 miliaria MONDO:0006547 NCIT:C34820 NCIT:C39594 exanthem +MONDO:0006582 mongolian spot MONDO:0022749 NCIT:C3945 NCIT:C3937 non-neoplastic nevus MONDO:0006622 vulvar seborrheic keratosis MONDO:0000643 NCIT:C6375 NCIT:C3611 vulvar benign neoplasm +MONDO:0006660 arthus reaction MONDO:0007817 NCIT:C34400 NCIT:C3116 IgE responsiveness, atopic MONDO:0006745 endometrioid stromal sarcoma MONDO:0037742 NCIT:C8973 NCIT:C8384 endometrioid stromal and related neoplasms MONDO:0006745 endometrioid stromal sarcoma MONDO:0044337 NCIT:C8973 NCIT:C6926 stromal sarcoma MONDO:0006778 halo nevus MONDO:0044794 NCIT:C7602 NCIT:C7571 benign melanocytic skin nevus MONDO:0006813 intradermal nevus MONDO:0044794 NCIT:C3804 NCIT:C7571 benign melanocytic skin nevus +MONDO:0006858 mouth disorder MONDO:0024623 NCIT:C3240 NCIT:C118420 otorhinolaryngologic disease +MONDO:0006913 pneumococcal meningitis MONDO:0007015 NCIT:C157958 NCIT:C118298 viral meningitis +MONDO:0006938 pyelitis MONDO:0006939 NCIT:C34964 NCIT:C34965 pyelonephritis +MONDO:0006948 retinal artery occlusion MONDO:0020673 NCIT:C34978 NCIT:C35318 arterial occlusion +MONDO:0006982 subacute thyroiditis MONDO:0006982 NCIT:C35828 NCIT:C35071 subacute thyroiditis MONDO:0006998 tonsil cancer MONDO:0005515 NCIT:C7404 NCIT:C9314 oral cavity cancer +MONDO:0007009 ureterolithiasis MONDO:0024647 NCIT:C114696 NCIT:C114688 urolithiasis +MONDO:0007015 viral meningitis MONDO:0005108 NCIT:C118298 NCIT:C3439 viral infectious disease +MONDO:0007113 Angelman syndrome MONDO:0700086 NCIT:C75462 NCIT:C85215 uniparental disomy MONDO:0007203 blue rubber bleb nevus MONDO:0018715 NCIT:C4486 NCIT:C3841 congenital hemangioma +MONDO:0007275 carpal tunnel syndrome MONDO:0002254 NCIT:C34450 NCIT:C28193 syndromic disease +MONDO:0007335 orofacial cleft 1 MONDO:0002254 NCIT:C124838 NCIT:C28193 syndromic disease +MONDO:0007356 Lynch syndrome 1 MONDO:0005835 NCIT:C6725 NCIT:C8494 Lynch syndrome MONDO:0007565 familial cylindromatosis MONDO:0021812 NCIT:C43352 NCIT:C27094 adnexal spiradenoma/cylindroma of a sweat gland +MONDO:0007621 Floating-Harbor syndrome MONDO:0002254 NCIT:C175241 NCIT:C28193 syndromic disease MONDO:0007667 subependymoma MONDO:0021632 NCIT:C3795 NCIT:C170814 primary brain neoplasm MONDO:0007672 glomuvenous malformation MONDO:0002299 NCIT:C5350 NCIT:C4222 glomangioma MONDO:0007708 Kasabach-Merritt syndrome MONDO:0024461 NCIT:C3821 NCIT:C27503 angiomatosis +MONDO:0007803 multiple system atrophy MONDO:0002254 NCIT:C84909 NCIT:C28193 syndromic disease MONDO:0007888 hereditary leiomyomatosis and renal cell cancer MONDO:0003008 NCIT:C51302 NCIT:C39789 hereditary renal cell carcinoma MONDO:0007959 medulloblastoma MONDO:0021317 NCIT:C3222 NCIT:C3569 cancer of cerebellum MONDO:0007959 medulloblastoma MONDO:0021632 NCIT:C3222 NCIT:C170814 primary brain neoplasm +MONDO:0008038 ataxia-pancytopenia syndrome MONDO:0002254 NCIT:C176909 NCIT:C28193 syndromic disease MONDO:0008040 transient myeloproliferative syndrome MONDO:0006517 NCIT:C82339 NCIT:C4005 childhood malignant neoplasm +MONDO:0008093 nevus, epidermal MONDO:0022749 NCIT:C4088 NCIT:C3937 non-neoplastic nevus MONDO:0008145 Ollier disease MONDO:0000631 NCIT:C3008 NCIT:C4880 bone benign neoplasm MONDO:0008167 dermoid cyst of ovary MONDO:0003820 NCIT:C3856 NCIT:C8112 mature ovarian teratoma MONDO:0008168 ovarian fibroma MONDO:0024387 NCIT:C3498 NCIT:C6803 benign ovarian sex cord-stromal tumor +MONDO:0008277 stomach polyp MONDO:0024292 NCIT:C3954 NCIT:C35516 gastrointestinal polyp +MONDO:0008283 Cronkhite-Canada syndrome MONDO:0006224 NCIT:C7035 NCIT:C4373 gastric hamartomatous polyp +MONDO:0008300 Prader-Willi syndrome MONDO:0700086 NCIT:C75463 NCIT:C85215 uniparental disomy +MONDO:0008318 Proteus syndrome MONDO:0021058 NCIT:C85032 NCIT:C54705 neoplastic syndrome MONDO:0008380 retinoblastoma MONDO:0002714 NCIT:C7541 NCIT:C4627 central nervous system cancer MONDO:0008420 seborrheic keratosis MONDO:0002093 NCIT:C9006 NCIT:C7419 acanthoma +MONDO:0008553 platelet-type bleeding disorder 17 MONDO:0001531 NCIT:C142084 NCIT:C2902 blood coagulation disease +MONDO:0008608 Down syndrome MONDO:0002254 NCIT:C2993 NCIT:C28193 syndromic disease +MONDO:0008608 Down syndrome MONDO:0003847 NCIT:C2993 NCIT:C3101 hereditary disease +MONDO:0008738 aganglionosis, total intestinal MONDO:0018309 NCIT:C101074 NCIT:C34700 Hirschsprung disease +MONDO:0008814 hyperargininemia MONDO:0037871 NCIT:C84568 NCIT:C97090 amino acid metabolism disease +MONDO:0008840 ataxia telangiectasia MONDO:0021190 NCIT:C2887 NCIT:C7757 DNA repair disease +MONDO:0008840 ataxia telangiectasia MONDO:0042983 NCIT:C2887 NCIT:C84348 neurocutaneous syndrome +MONDO:0008858 Behr syndrome MONDO:0002254 NCIT:C177251 NCIT:C28193 syndromic disease +MONDO:0008876 Bloom syndrome MONDO:0015356 NCIT:C2903 NCIT:C3266 hereditary neoplastic syndrome +MONDO:0008915 dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome MONDO:0002254 NCIT:C174217 NCIT:C28193 syndromic disease MONDO:0008977 chondrosarcoma MONDO:0024469 NCIT:C2946 NCIT:C4755 chondrogenic neoplasm MONDO:0008978 chordoma MONDO:0002129 NCIT:C2947 NCIT:C4016 bone cancer +MONDO:0009033 temtamy syndrome MONDO:0002254 NCIT:C148371 NCIT:C28193 syndromic disease +MONDO:0009072 Dandy-Walker syndrome MONDO:0002254 NCIT:C75012 NCIT:C28193 syndromic disease +MONDO:0009126 duodenal atresia MONDO:0009476 NCIT:C101025 NCIT:C98828 atresia of small intestine +MONDO:0009131 Riley-Day syndrome MONDO:0044872 NCIT:C84706 NCIT:C53439 dysautonomia +MONDO:0009141 torsion dystonia 2 MONDO:0007492 NCIT:C123415 NCIT:C116718 early-onset generalized limb-onset dystonia +MONDO:0009197 transient erythroblastopenia of childhood MONDO:0020338 NCIT:C131683 NCIT:C70548 adult pure red cell aplasia +MONDO:0009234 congenital high-molecular-weight kininogen deficiency MONDO:0009332 NCIT:C98946 NCIT:C104003 congenital hematological disorder +MONDO:0009281 glutaryl-CoA dehydrogenase deficiency MONDO:0037871 NCIT:C99101 NCIT:C97090 amino acid metabolism disease +MONDO:0009318 Hallermann-Streiff syndrome MONDO:0002254 NCIT:C84746 NCIT:C28193 syndromic disease +MONDO:0009476 atresia of small intestine MONDO:0001045 NCIT:C98828 NCIT:C84790 intestinal atresia +MONDO:0009520 3-hydroxy-3-methylglutaric aciduria MONDO:0037871 NCIT:C84523 NCIT:C97090 amino acid metabolism disease +MONDO:0009646 monosomy 7 myelodysplasia and leukemia syndrome 1 MONDO:0015356 NCIT:C176908 NCIT:C3266 hereditary neoplastic syndrome MONDO:0009692 primary myelofibrosis MONDO:0044903 NCIT:C2862 NCIT:C3248 myelofibrosis +MONDO:0009720 Keipert syndrome MONDO:0002254 NCIT:C186306 NCIT:C28193 syndromic disease MONDO:0009807 osteosarcoma MONDO:0045053 NCIT:C9145 NCIT:C6603 osteogenic neoplasm +MONDO:0009862 dihydropteridine reductase deficiency MONDO:0009861 NCIT:C138173 NCIT:C81315 phenylketonuria +MONDO:0009863 BH4-deficient hyperphenylalaninemia A MONDO:0009861 NCIT:C138171 NCIT:C81315 phenylketonuria +MONDO:0009865 glycogen storage disease due to phosphoglycerate mutase deficiency MONDO:0020585 NCIT:C131647 NCIT:C131630 anemia due to erythrocyte enzyme disorder +MONDO:0009869 isolated Pierre-Robin syndrome MONDO:0002254 NCIT:C85010 NCIT:C28193 syndromic disease +MONDO:0009924 vitamin D-dependent rickets, type 1 MONDO:0100471 NCIT:C131073 NCIT:C114830 vitamin D deficiency +MONDO:0009949 pyruvate carboxylase deficiency disease MONDO:0037871 NCIT:C85040 NCIT:C97090 amino acid metabolism disease +MONDO:0010004 EEC syndrome MONDO:0019287 NCIT:C148261 NCIT:C84683 ectodermal dysplasia syndrome +MONDO:0010196 Werner syndrome MONDO:0015356 NCIT:C3447 NCIT:C3266 hereditary neoplastic syndrome +MONDO:0010196 Werner syndrome MONDO:0021190 NCIT:C3447 NCIT:C7757 DNA repair disease +MONDO:0010281 Danon disease MONDO:0009290 NCIT:C84735 NCIT:C84734 glycogen storage disease II +MONDO:0010293 ectodermal dysplasia and immune deficiency MONDO:0021094 NCIT:C118844 NCIT:C3131 immunodeficiency disease +MONDO:0010305 creatine transporter deficiency MONDO:0000425 NCIT:C125665 NCIT:C85865 X-linked disease +MONDO:0010305 creatine transporter deficiency MONDO:0002254 NCIT:C125665 NCIT:C28193 syndromic disease +MONDO:0010308 thrombocytopenia, X-linked, with or without dyserythropoietic anemia MONDO:0009332 NCIT:C136653 NCIT:C104003 congenital hematological disorder +MONDO:0010421 Bruton-type agammaglobulinemia MONDO:0015356 NCIT:C3822 NCIT:C3266 hereditary neoplastic syndrome +MONDO:0010507 Xq25 microduplication syndrome MONDO:0002254 NCIT:C177544 NCIT:C28193 syndromic disease +MONDO:0010595 Sertoli cell-only syndrome MONDO:0002254 NCIT:C168988 NCIT:C28193 syndromic disease +MONDO:0010683 X-linked myotubular myopathy MONDO:0002921 NCIT:C118781 NCIT:C84648 congenital structural myopathy +MONDO:0010725 X-linked retinoschisis MONDO:0002254 NCIT:C75483 NCIT:C28193 syndromic disease +MONDO:0010743 thrombocytopenia 1 MONDO:0009332 NCIT:C176617 NCIT:C104003 congenital hematological disorder +MONDO:0010745 beta-thalassemia-X-linked thrombocytopenia syndrome MONDO:0009332 NCIT:C134941 NCIT:C104003 congenital hematological disorder +MONDO:0010810 vitamin D hydroxylation-deficient rickets, type 1B MONDO:0100471 NCIT:C131074 NCIT:C114830 vitamin D deficiency +MONDO:0010886 2q37 microdeletion syndrome MONDO:0002254 NCIT:C129021 NCIT:C28193 syndromic disease +MONDO:0010909 UV-sensitive syndrome 1 MONDO:0002254 NCIT:C173106 NCIT:C28193 syndromic disease +MONDO:0011055 distal monosomy 10p MONDO:0002254 NCIT:C130982 NCIT:C28193 syndromic disease +MONDO:0011094 dilated cardiomyopathy 1C MONDO:0005021 NCIT:C170436 NCIT:C84673 dilated cardiomyopathy MONDO:0011118 bilineal acute myeloid leukemia MONDO:0020743 NCIT:C6923 NCIT:C82179 mixed phenotype acute leukemia MONDO:0011368 papillary thyroid Microcarcinoma MONDO:0005075 NCIT:C46004 NCIT:C4035 thyroid gland papillary carcinoma +MONDO:0011479 postural orthostatic tachycardia syndrome MONDO:0002254 NCIT:C85020 NCIT:C28193 syndromic disease +MONDO:0011612 glycine encephalopathy MONDO:0002320 NCIT:C84937 NCIT:C97172 congenital nervous system disorder MONDO:0011655 alveolar soft part sarcoma MONDO:0011655 NCIT:C7943 NCIT:C3750 alveolar soft part sarcoma -MONDO:0011908 juvenile myelomonocytic leukemia MONDO:0006517 NCIT:C9233 NCIT:C4005 childhood malignant neoplasm +MONDO:0011876 juvenile absence epilepsy MONDO:0005579 NCIT:C129868 NCIT:C3021 epilepsy, idiopathic generalized MONDO:0011927 tufted angioma MONDO:0002407 NCIT:C4487 NCIT:C7457 capillary hemangioma +MONDO:0011929 chromosome 1p36 deletion syndrome MONDO:0002254 NCIT:C74983 NCIT:C28193 syndromic disease +MONDO:0012016 capillary malformation-arteriovenous malformation syndrome MONDO:0021060 NCIT:C179668 NCIT:C179667 RASopathy +MONDO:0012081 15q11q13 microduplication syndrome MONDO:0002254 NCIT:C126692 NCIT:C28193 syndromic disease +MONDO:0012105 granulomatosis with polyangiitis MONDO:0000473 NCIT:C3444 NCIT:C35317 arterial disorder +MONDO:0012231 Charcot-Marie-Tooth disease type 2A2 MONDO:0007308 NCIT:C150646 NCIT:C134952 Charcot-Marie-Tooth disease type 2A1 +MONDO:0012249 Lynch syndrome 2 MONDO:0005835 NCIT:C6726 NCIT:C8494 Lynch syndrome +MONDO:0012392 2-methylbutyryl-CoA dehydrogenase deficiency MONDO:0037871 NCIT:C98863 NCIT:C97090 amino acid metabolism disease +MONDO:0012756 proximal 16p11.2 microdeletion syndrome MONDO:0002254 NCIT:C120408 NCIT:C28193 syndromic disease +MONDO:0012833 Crouzon syndrome-acanthosis nigricans syndrome MONDO:0100313 NCIT:C38145 NCIT:C37308 focal segmental glomerulosclerosis +MONDO:0013129 cone dystrophy 4 MONDO:0018852 NCIT:C164226 NCIT:C84528 achromatopsia +MONDO:0013171 purine nucleoside phosphorylase deficiency MONDO:0005046 NCIT:C176817 NCIT:C3507 immune system disorder +MONDO:0013171 purine nucleoside phosphorylase deficiency MONDO:0015974 NCIT:C3963 NCIT:C3472 severe combined immunodeficiency +MONDO:0013252 Warsaw breakage syndrome MONDO:0002254 NCIT:C164675 NCIT:C28193 syndromic disease +MONDO:0013252 Warsaw breakage syndrome MONDO:0021190 NCIT:C164675 NCIT:C7757 DNA repair disease +MONDO:0013270 Rett syndrome, congenital variant MONDO:0010726 NCIT:C176903 NCIT:C75488 Rett syndrome +MONDO:0013563 multiple congenital anomalies-hypotonia-seizures syndrome 1 MONDO:0002254 NCIT:C176896 NCIT:C28193 syndromic disease +MONDO:0013688 linear and whorled nevoid hypermelanosis MONDO:0022749 NCIT:C3924 NCIT:C3937 non-neoplastic nevus +MONDO:0013730 graft versus host disease MONDO:0045054 NCIT:C3063 NCIT:C8278 cancer-related condition +MONDO:0013779 Wiskott-Aldrich syndrome 2 MONDO:0015131 NCIT:C176820 NCIT:C27871 combined immunodeficiency +MONDO:0013829 UV-sensitive syndrome 2 MONDO:0002254 NCIT:C173110 NCIT:C28193 syndromic disease +MONDO:0013834 UV-sensitive syndrome 3 MONDO:0002254 NCIT:C173107 NCIT:C28193 syndromic disease +MONDO:0013867 brown-Vialetto-van Laere syndrome 2 MONDO:0002254 NCIT:C183529 NCIT:C28193 syndromic disease +MONDO:0013867 brown-Vialetto-van Laere syndrome 2 MONDO:0008890 NCIT:C183529 NCIT:C85026 progressive bulbar palsy +MONDO:0014005 immunoglobulin-mediated membranoproliferative glomerulonephritis MONDO:0002461 NCIT:C123055 NCIT:C34644 membranoproliferative glomerulonephritis +MONDO:0014220 myopathy due to myoadenylate deaminase deficiency MONDO:0020123 NCIT:C157504 NCIT:C98985 metabolic myopathy +MONDO:0014659 infantile liver failure syndrome 2 MONDO:0002254 NCIT:C158135 NCIT:C28193 syndromic disease +MONDO:0014873 nevus comedonicus syndrome MONDO:0020979 NCIT:C3946 NCIT:C5565 pilosebaceous hamartoma +MONDO:0014906 Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2a2b; MONDO:0007308 NCIT:C150647 NCIT:C134952 Charcot-Marie-Tooth disease type 2A1 MONDO:0015074 thyroid tumor MONDO:0021351 NCIT:C3414 NCIT:C3260 neoplasm of neck +MONDO:0015104 porphyria cutanea tarda MONDO:0019142 NCIT:C27725 NCIT:C97096 inherited porphyria +MONDO:0015128 primary adrenal insufficiency MONDO:0000004 NCIT:C113172 NCIT:C26691 adrenocortical insufficiency +MONDO:0015167 amniotic band syndrome MONDO:0002254 NCIT:C84552 NCIT:C28193 syndromic disease +MONDO:0015183 short bowel syndrome MONDO:0002254 NCIT:C99059 NCIT:C28193 syndromic disease +MONDO:0015253 Diamond-Blackfan anemia MONDO:0009332 NCIT:C61236 NCIT:C104003 congenital hematological disorder +MONDO:0015285 Carney complex MONDO:0015356 NCIT:C4705 NCIT:C3266 hereditary neoplastic syndrome +MONDO:0015286 congenital disorder of glycosylation MONDO:0002254 NCIT:C84615 NCIT:C28193 syndromic disease +MONDO:0015286 congenital disorder of glycosylation MONDO:0019214 NCIT:C84615 NCIT:C97089 inborn carbohydrate metabolic disorder +MONDO:0015436 ring chromosome 20 MONDO:0002254 NCIT:C169001 NCIT:C28193 syndromic disease MONDO:0015447 differentiated thyroid carcinoma MONDO:0024622 NCIT:C7153 NCIT:C27380 thyroid gland adenocarcinoma +MONDO:0015515 carnitine palmitoyltransferase II deficiency MONDO:0037858 NCIT:C114766 NCIT:C117115 inherited fatty acid metabolism disorder +MONDO:0015524 hyperplastic polyposis syndrome MONDO:0021392 NCIT:C165469 NCIT:C5679 polyp of large intestine MONDO:0015534 juvenile xanthogranuloma MONDO:0021440 NCIT:C3451 NCIT:C2896 benign neoplasm of skin +MONDO:0015540 hemophagocytic syndrome MONDO:0015540 NCIT:C34792 NCIT:C35439 hemophagocytic syndrome +MONDO:0015564 Castleman disease MONDO:0044921 NCIT:C3056 NCIT:C7764 atypical lymphoproliferative disorder +MONDO:0015612 Dent disease MONDO:0005520 NCIT:C123260 NCIT:C26878 rickets MONDO:0015688 myeloid/lymphoid neoplasms associated with eosinophilia and abnormality of PDGFRA, PDGFRB, FGFR1 or JAK2 MONDO:0004992 NCIT:C84270 NCIT:C9305 cancer MONDO:0015760 T-cell non-Hodgkin lymphoma MONDO:0024615 NCIT:C3466 NCIT:C27908 T-cell and NK-cell neoplasm +MONDO:0015776 rhizomelic chondrodysplasia punctata MONDO:0019234 NCIT:C85047 NCIT:C155747 peroxisome biogenesis disorder +MONDO:0015813 primary cutaneous marginal zone B-cell lymphoma MONDO:0007650 NCIT:C7230 NCIT:C3898 MALT lymphoma MONDO:0015864 mixed germ cell tumor MONDO:0021043 NCIT:C4290 NCIT:C6930 mixed neoplasm +MONDO:0015912 macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss MONDO:0015912 NCIT:C131646 NCIT:C158788 macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss +MONDO:0016004 aminopterin/methotrexate embryofetopathy MONDO:0002254 NCIT:C98928 NCIT:C28193 syndromic disease +MONDO:0016006 Cockayne syndrome MONDO:0002254 NCIT:C9460 NCIT:C28193 syndromic disease +MONDO:0016012 diethylstilbestrol syndrome MONDO:0002254 NCIT:C113422 NCIT:C28193 syndromic disease +MONDO:0016035 Nelson syndrome MONDO:0002254 NCIT:C84917 NCIT:C28193 syndromic disease +MONDO:0016063 Cowden disease MONDO:0017623 NCIT:C3076 NCIT:C179915 PTEN hamartoma tumor syndrome +MONDO:0016367 dermatomyositis MONDO:0007179 NCIT:C26744 NCIT:C2889 autoimmune disease +MONDO:0016489 delta-beta-thalassemia MONDO:0019402 NCIT:C172823 NCIT:C34375 beta thalassemia +MONDO:0016537 lymphoproliferative syndrome MONDO:0005570 NCIT:C9308 NCIT:C26323 hematologic disorder +MONDO:0016576 split hand-foot malformation MONDO:0002254 NCIT:C75000 NCIT:C28193 syndromic disease +MONDO:0016664 drug-induced vasculitis MONDO:0020576 NCIT:C112204 NCIT:C112210 cutaneous vasculitis MONDO:0016682 giant cell glioblastoma MONDO:0002402 NCIT:C4325 NCIT:C4090 malignant giant cell tumor MONDO:0016683 gliomatosis cerebri MONDO:0021632 NCIT:C4318 NCIT:C170814 primary brain neoplasm MONDO:0016684 anaplastic astrocytoma MONDO:0021640 NCIT:C9477 NCIT:C127816 grade III glioma @@ -345,55 +532,99 @@ MONDO:0016739 yolk sac tumor of central nervous system MONDO:0020574 NCIT:C7011 MONDO:0016742 mixed germ cell tumor of central nervous system MONDO:0005853 NCIT:C7016 NCIT:C3729 malignant mixed neoplasm MONDO:0016751 malignant perineurioma MONDO:0017827 NCIT:C66845 NCIT:C3798 malignant peripheral nerve sheath tumor MONDO:0016755 neurofibroma MONDO:0000648 NCIT:C3272 NCIT:C4789 nervous system benign neoplasm +MONDO:0016812 dopa-responsive dystonia MONDO:0044807 NCIT:C116719 NCIT:C35527 inherited dystonia +MONDO:0016984 nevus of Ota MONDO:0022749 NCIT:C7583 NCIT:C3937 non-neoplastic nevus +MONDO:0016985 nevus of Ito MONDO:0022749 NCIT:C7582 NCIT:C3937 non-neoplastic nevus +MONDO:0016990 acquired prothrombin deficiency MONDO:0013361 NCIT:C131622 NCIT:C131737 congenital prothrombin deficiency +MONDO:0016990 acquired prothrombin deficiency MONDO:0020599 NCIT:C131622 NCIT:C34347 acquired coagulation factor deficiency MONDO:0017050 intraocular medulloepithelioma MONDO:0021229 NCIT:C66806 NCIT:C4364 ciliary body neoplasm MONDO:0017169 multiple endocrine neoplasia MONDO:0002082 NCIT:C6432 NCIT:C3010 endocrine gland neoplasm MONDO:0017340 juvenile nasopharyngeal angiofibroma MONDO:0021478 NCIT:C27479 NCIT:C3595 benign neoplasm of nasopharynx -MONDO:0017582 pituitary adenocarcinoma MONDO:0006373 NCIT:C4536 NCIT:C3329 pituitary gland adenoma +MONDO:0017582 pituitary adenocarcinoma MONDO:0040677 NCIT:C4536 NCIT:C9480 invasive carcinoma +MONDO:0017623 PTEN hamartoma tumor syndrome MONDO:0015356 NCIT:C179915 NCIT:C3266 hereditary neoplastic syndrome +MONDO:0017648 Sydenham chorea MONDO:0001595 NCIT:C168445 NCIT:C84633 choreatic disease +MONDO:0017767 rheumatic fever MONDO:0005113 NCIT:C34984 NCIT:C2890 bacterial infectious disease +MONDO:0017778 lamellar ichthyosis MONDO:0019269 NCIT:C84805 NCIT:C84776 ichthyosis +MONDO:0017790 gastric adenocarcinoma and proximal polyposis of the stomach MONDO:0015356 NCIT:C172989 NCIT:C3266 hereditary neoplastic syndrome +MONDO:0017799 Meigs syndrome MONDO:0045054 NCIT:C3223 NCIT:C8278 cancer-related condition +MONDO:0017842 Senior-Loken syndrome MONDO:0002254 NCIT:C168588 NCIT:C28193 syndromic disease +MONDO:0018067 triploidy MONDO:0002254 NCIT:C85204 NCIT:C28193 syndromic disease +MONDO:0018092 Vogt-Koyanagi-Harada disease MONDO:0002254 NCIT:C85218 NCIT:C28193 syndromic disease MONDO:0018153 Erdheim-Chester disease MONDO:0006247 NCIT:C53972 NCIT:C9294 histiocytic and dendritic cell neoplasm MONDO:0018177 glioblastoma MONDO:0020633 NCIT:C3058 NCIT:C36025 anaplastic cancer +MONDO:0018181 staphylococcal scalded skin syndrome MONDO:0002254 NCIT:C85077 NCIT:C28193 syndromic disease MONDO:0018193 testicular teratoma MONDO:0002874 NCIT:C3877 NCIT:C39915 testicular pure germ cell tumor MONDO:0018193 testicular teratoma MONDO:0006233 NCIT:C3877 NCIT:C98291 gonadal teratoma MONDO:0018193 testicular teratoma MONDO:0006447 NCIT:C3877 NCIT:C9313 testicular non-seminomatous germ cell tumor -MONDO:0018308 liver mesenchymal hamartoma MONDO:0021077 NCIT:C5751 NCIT:C6784 cystic neoplasm -MONDO:0018308 liver mesenchymal hamartoma MONDO:0044335 NCIT:C5751 NCIT:C4242 benign soft tissue neoplasm +MONDO:0018214 generalized epilepsy with febrile seizures plus MONDO:0005579 NCIT:C122811 NCIT:C3021 epilepsy, idiopathic generalized MONDO:0018369 immature ovarian teratoma MONDO:0024746 NCIT:C8111 NCIT:C4286 immature teratoma MONDO:0018449 acquired cystic disease-associated renal cell carcinoma MONDO:0005549 NCIT:C157718 NCIT:C9385 renal cell adenocarcinoma +MONDO:0018493 malignant hyperthermia of anesthesia MONDO:0002254 NCIT:C84869 NCIT:C28193 syndromic disease +MONDO:0018540 PFAPA syndrome MONDO:0007179 NCIT:C116917 NCIT:C2889 autoimmune disease +MONDO:0018613 AH amyloidosis MONDO:0017816 NCIT:C158962 NCIT:C8299 primary systemic amyloidosis +MONDO:0018648 Keratocystic odontogenic tumor MONDO:0006328 NCIT:C54302 NCIT:C54220 odontogenic cyst +MONDO:0018674 IgG4-related submandibular gland disease MONDO:0006969 NCIT:C82887 NCIT:C26882 sialadenitis MONDO:0018815 aneurysmal bone cyst MONDO:0000631 NCIT:C3516 NCIT:C4880 bone benign neoplasm -MONDO:0018815 aneurysmal bone cyst MONDO:0021077 NCIT:C3516 NCIT:C6784 cystic neoplasm MONDO:0018881 myelodysplastic syndrome MONDO:0005170 NCIT:C3247 NCIT:C9290 myeloid neoplasm MONDO:0018881 myelodysplastic syndrome MONDO:0021138 NCIT:C3247 NCIT:C35501 bone marrow cancer MONDO:0018902 hepatocellular adenoma MONDO:0006180 NCIT:C3758 NCIT:C36207 digestive system adenoma -MONDO:0018907 craniopharyngioma MONDO:0021077 NCIT:C2964 NCIT:C6784 cystic neoplasm MONDO:0018907 craniopharyngioma MONDO:0021451 NCIT:C2964 NCIT:C4781 benign neoplasm of brain +MONDO:0018910 oculocutaneous albinism MONDO:0043209 NCIT:C84941 NCIT:C84543 albinism MONDO:0018936 osteoblastoma MONDO:0045052 NCIT:C3294 NCIT:C6602 benign osteogenic neoplasm +MONDO:0018950 3-methylcrotonyl-CoA carboxylase deficiency MONDO:0037871 NCIT:C98674 NCIT:C97090 amino acid metabolism disease MONDO:0018961 familial melanoma MONDO:0005012 NCIT:C8498 NCIT:C3510 cutaneous melanoma +MONDO:0018963 hereditary methemoglobinemia MONDO:0009332 NCIT:C98898 NCIT:C104003 congenital hematological disorder +MONDO:0018989 recurrent acute pancreatitis MONDO:0006515 NCIT:C184324 NCIT:C95437 acute pancreatitis +MONDO:0019040 chromosomal disorder MONDO:0003847 NCIT:C34470 NCIT:C3101 hereditary disease +MONDO:0019050 inherited hemoglobinopathy MONDO:0009332 NCIT:C3092 NCIT:C104003 congenital hematological disorder +MONDO:0019065 amyloidosis MONDO:0045054 NCIT:C2868 NCIT:C8278 cancer-related condition +MONDO:0019118 inherited retinal dystrophy MONDO:0019118 NCIT:C35194 NCIT:C35625 inherited retinal dystrophy +MONDO:0019127 polymyositis MONDO:0005554 NCIT:C26925 NCIT:C27204 rheumatic disorder +MONDO:0019234 peroxisome biogenesis disorder MONDO:0019234 NCIT:C146639 NCIT:C155747 peroxisome biogenesis disorder +MONDO:0019319 verrucous nevus MONDO:0022749 NCIT:C4674 NCIT:C3937 non-neoplastic nevus +MONDO:0019338 sarcoidosis MONDO:0007179 NCIT:C34995 NCIT:C2889 autoimmune disease +MONDO:0019339 47,XYY syndrome MONDO:0002254 NCIT:C85237 NCIT:C28193 syndromic disease +MONDO:0019403 congenital dyserythropoietic anemia MONDO:0000577 NCIT:C84646 NCIT:C35228 congenital anemia MONDO:0019404 perineurioma MONDO:0000648 NCIT:C4973 NCIT:C4789 nervous system benign neoplasm +MONDO:0019438 AL amyloidosis MONDO:0017816 NCIT:C158963 NCIT:C8299 primary systemic amyloidosis MONDO:0019456 acute myeloid leukemia with multilineage dysplasia MONDO:0100409 NCIT:C9289 NCIT:C7600 acute myeloid leukemia, t(3;5)(q25;q34) MONDO:0019457 therapy related acute myeloid leukemia and myelodysplastic syndrome MONDO:0024881 NCIT:C25765 NCIT:C4968 secondary malignant neoplasm -MONDO:0019467 CD4+/CD56+ hematodermic neoplasm MONDO:0006247 NCIT:C7203 NCIT:C9294 histiocytic and dendritic cell neoplasm MONDO:0019471 adult T-cell leukemia/lymphoma MONDO:0000430 NCIT:C3184 NCIT:C3468 mature T-cell and NK-cell non-Hodgkin lymphoma MONDO:0019472 extranodal nasal NK/T cell lymphoma MONDO:0000430 NCIT:C4684 NCIT:C3468 mature T-cell and NK-cell non-Hodgkin lymphoma MONDO:0019474 hepatosplenic T-cell lymphoma MONDO:0000430 NCIT:C8459 NCIT:C3468 mature T-cell and NK-cell non-Hodgkin lymphoma MONDO:0019475 subcutaneous panniculitis-like T-cell lymphoma MONDO:0000607 NCIT:C6918 NCIT:C3467 primary cutaneous T-cell non-Hodgkin lymphoma MONDO:0019479 histiocytic sarcoma MONDO:0005089 NCIT:C27349 NCIT:C9118 sarcoma +MONDO:0019509 cutaneous leukocytoclastic angiitis MONDO:0020576 NCIT:C122919 NCIT:C112210 cutaneous vasculitis +MONDO:0019610 Zollinger-Ellison syndrome MONDO:0045072 NCIT:C3453 NCIT:C4065 ectopic hormone secretion syndrome associated with neoplasia +MONDO:0019716 overgrowth syndrome MONDO:0002254 NCIT:C94828 NCIT:C28193 syndromic disease +MONDO:0019736 dense deposit disease MONDO:0002461 NCIT:C123039 NCIT:C34644 membranoproliferative glomerulonephritis +MONDO:0019755 developmental defect during embryogenesis MONDO:0002254 NCIT:C99267 NCIT:C28193 syndromic disease +MONDO:0019933 acromegaly MONDO:0002254 NCIT:C84533 NCIT:C28193 syndromic disease MONDO:0019959 glucagonoma MONDO:0023206 NCIT:C95597 NCIT:C45840 functional pancreatic neuroendocrine tumor MONDO:0020179 palpebral nevus MONDO:0044794 NCIT:C3880 NCIT:C7571 benign melanocytic skin nevus MONDO:0020317 acute myeloid leukemia with 11q23 abnormalities MONDO:0100404 NCIT:C82403 NCIT:C174129 acute myeloid leukemia, MLL gene rearrangement MONDO:0020325 anaplastic large cell lymphoma MONDO:0020633 NCIT:C3720 NCIT:C36025 anaplastic cancer -MONDO:0020334 mast cell leukemia MONDO:0004643 NCIT:C3169 NCIT:C3172 myeloid leukemia MONDO:0020511 precursor B-cell acute lymphoblastic leukemia MONDO:0004947 NCIT:C8644 NCIT:C8936 B-cell acute lymphoblastic leukemia +MONDO:0020598 malabsorption syndrome MONDO:0002254 NCIT:C3214 NCIT:C28193 syndromic disease MONDO:0020634 grade III meningioma MONDO:0021322 NCIT:C38938 NCIT:C4628 malignant tumor of meninges MONDO:0020646 ocular adnexal lymphoma MONDO:0004034 NCIT:C88145 NCIT:C35690 eye lymphoma +MONDO:0020712 46,XY sex reversal 1 MONDO:0020040 NCIT:C128188 NCIT:C127171 46,XY disorder of sex development +MONDO:0020804 basal cell carcinoma MONDO:0020804 NCIT:C156767 NCIT:C7586 basal cell carcinoma MONDO:0021039 extraskeletal Ewing sarcoma/peripheral primitive neuroectodermal tumor MONDO:0024637 NCIT:C27293 NCIT:C4867 malignant soft tissue neoplasm +MONDO:0021060 RASopathy MONDO:0002254 NCIT:C179667 NCIT:C28193 syndromic disease MONDO:0021065 pleural neoplasm MONDO:0021350 NCIT:C3332 NCIT:C3406 neoplasm of thorax MONDO:0021071 laryngeal neoplasm MONDO:0021351 NCIT:C3156 NCIT:C3260 neoplasm of neck +MONDO:0021074 precancerous condition MONDO:0045054 NCIT:C3341 NCIT:C8278 cancer-related condition +MONDO:0021081 anti-NMDA receptor encephalitis MONDO:0020640 NCIT:C94853 NCIT:C122414 autoimmune encephalitis MONDO:0021086 gingival neoplasm MONDO:0021245 NCIT:C3057 NCIT:C7606 oral cavity neoplasm MONDO:0021088 papillary meningioma MONDO:0020634 NCIT:C3904 NCIT:C38938 grade III meningioma MONDO:0021090 lipid-rich breast carcinoma MONDO:0004953 NCIT:C40365 NCIT:C4194 invasive ductal breast carcinoma MONDO:0021090 lipid-rich breast carcinoma MONDO:0005004 NCIT:C40365 NCIT:C3766 clear cell adenocarcinoma +MONDO:0021094 immunodeficiency disease MONDO:0002254 NCIT:C3131 NCIT:C28193 syndromic disease MONDO:0021110 sweat gland adenoma MONDO:0021489 NCIT:C7560 NCIT:C4879 benign neoplasm of sweat gland MONDO:0021112 scrotum cancer MONDO:0002898 NCIT:C3560 NCIT:C2920 skin cancer MONDO:0021123 Ewing sarcoma/peripheral primitive neuroectodermal tumor of bone MONDO:0002129 NCIT:C35871 NCIT:C4016 bone cancer +MONDO:0021133 acquired factor XIII deficiency MONDO:0018029 NCIT:C131629 NCIT:C131633 congenital factor XIII deficiency MONDO:0021192 odontogenic neoplasm MONDO:0021245 NCIT:C3286 NCIT:C7606 oral cavity neoplasm MONDO:0021222 lacrimal gland neoplasm MONDO:0002460 NCIT:C4360 NCIT:C5102 lacrimal system cancer MONDO:0021223 digestive system neoplasm MONDO:0004335 NCIT:C3052 NCIT:C2990 digestive system disorder @@ -420,6 +651,8 @@ MONDO:0021360 tumor of parathyroid gland MONDO:0021351 NCIT:C3313 NCIT:C3260 neo MONDO:0021381 neoplasm of pericardium MONDO:0021209 NCIT:C4651 NCIT:C3081 heart neoplasm MONDO:0021383 neoplasm of floor of mouth MONDO:0021245 NCIT:C4401 NCIT:C7606 oral cavity neoplasm MONDO:0021390 polyp of ureter MONDO:0001398 NCIT:C4530 NCIT:C3617 ureter benign neoplasm +MONDO:0021392 polyp of large intestine MONDO:0024292 NCIT:C5679 NCIT:C35516 gastrointestinal polyp +MONDO:0021416 polyp of gallbladder MONDO:0024292 NCIT:C3909 NCIT:C35516 gastrointestinal polyp MONDO:0021444 benign neoplasm of large intestine MONDO:0005335 NCIT:C4610 NCIT:C2956 colorectal neoplasm MONDO:0021451 benign neoplasm of brain MONDO:0021632 NCIT:C4781 NCIT:C170814 primary brain neoplasm MONDO:0021456 benign neoplasm of sternum MONDO:0021529 NCIT:C8416 NCIT:C8529 benign neoplasm of chest wall @@ -444,23 +677,62 @@ MONDO:0021578 sternal neoplasm MONDO:0021388 NCIT:C6730 NCIT:C4929 neoplasm of c MONDO:0021607 eyelid seborrheic keratosis MONDO:0021605 NCIT:C4356 NCIT:C4354 benign eyelid neoplasm MONDO:0021632 primary brain neoplasm MONDO:0021632 NCIT:C4952 NCIT:C170814 primary brain neoplasm MONDO:0021638 low grade astrocytic tumor MONDO:0019781 NCIT:C116342 NCIT:C60781 astrocytoma (excluding glioblastoma) +MONDO:0021651 synpolydactyly MONDO:0002254 NCIT:C75003 NCIT:C28193 syndromic disease +MONDO:0021658 vascular ectasia MONDO:0024287 NCIT:C45481 NCIT:C112117 congenital vascular malformation +MONDO:0021915 arakawa syndrome 2 MONDO:0004737 NCIT:C99081 NCIT:C84765 homocystinuria +MONDO:0021977 basaloid follicular hamartoma MONDO:0020979 NCIT:C4749 NCIT:C5565 pilosebaceous hamartoma MONDO:0022394 cervical intraepithelial neoplasia MONDO:0021230 NCIT:C3782 NCIT:C2940 uterine cervix neoplasm MONDO:0022394 cervical intraepithelial neoplasia MONDO:0024474 NCIT:C3782 NCIT:C8366 intraepithelial neoplasia +MONDO:0023528 KSHV inflammatory cytokine syndrome MONDO:0021166 NCIT:C125711 NCIT:C93210 inflammatory disease +MONDO:0024237 inherited neurodegenerative disorder MONDO:0002320 NCIT:C97073 NCIT:C97172 congenital nervous system disorder +MONDO:0024275 amebic dysentery MONDO:0006039 NCIT:C34558 NCIT:C78359 infectious colitis +MONDO:0024287 congenital vascular malformation MONDO:0024239 NCIT:C112117 NCIT:C35729 congenital anomaly of cardiovascular system MONDO:0024296 vascular neoplasm MONDO:0005385 NCIT:C7388 NCIT:C35117 vascular disorder MONDO:0024341 retinal cell neoplasm MONDO:0021193 NCIT:C7061 NCIT:C3787 neuroepithelial neoplasm MONDO:0024470 benign chondrogenic neoplasm MONDO:0000654 NCIT:C8592 NCIT:C53684 benign connective and soft tissue neoplasm MONDO:0024477 liver and intrahepatic bile duct neoplasm MONDO:0024477 NCIT:C7106 NCIT:C7103 liver and intrahepatic bile duct neoplasm +MONDO:0024537 Brown-Vialetto-van Laere syndrome 1 MONDO:0002254 NCIT:C133724 NCIT:C28193 syndromic disease +MONDO:0024537 Brown-Vialetto-van Laere syndrome 1 MONDO:0008890 NCIT:C133724 NCIT:C85026 progressive bulbar palsy +MONDO:0024575 pregnancy disorder MONDO:0002263 NCIT:C35169 NCIT:C27020 female reproductive system disorder MONDO:0024660 tubular adenoma MONDO:0006180 NCIT:C4133 NCIT:C36207 digestive system adenoma MONDO:0024661 tubulovillous adenoma MONDO:0006180 NCIT:C4143 NCIT:C36207 digestive system adenoma MONDO:0024861 mixed teratoma and seminoma MONDO:0005853 NCIT:C9010 NCIT:C3729 malignant mixed neoplasm MONDO:0024886 serous adenofibroma MONDO:0037256 NCIT:C67090 NCIT:C7074 serous neoplasm +MONDO:0025419 furunculosis MONDO:0021201 NCIT:C34629 NCIT:C35025 skin infection +MONDO:0032572 cardiac, facial, and digital anomalies with developmental delay MONDO:0002254 NCIT:C179868 NCIT:C28193 syndromic disease +MONDO:0032666 epidermodysplasia verruciformis, susceptibility to, 4 MONDO:0021094 NCIT:C176608 NCIT:C3131 immunodeficiency disease MONDO:0035605 B-lymphoblastic leukemia/lymphoma with recurrent genetic abnormality MONDO:0004947 NCIT:C80328 NCIT:C8936 B-cell acute lymphoblastic leukemia +MONDO:0035738 acquired factor VII deficiency MONDO:0009211 NCIT:C131625 NCIT:C131631 congenital factor VII deficiency +MONDO:0037871 amino acid metabolism disease MONDO:0019052 NCIT:C97090 NCIT:C34816 inborn errors of metabolism MONDO:0040678 infiltrating urothelial carcinoma MONDO:0040679 NCIT:C39853 NCIT:C4030 urothelial carcinoma MONDO:0041447 metastatic malignant neoplasm in the colon MONDO:0021063 NCIT:C8411 NCIT:C9242 malignant colon neoplasm +MONDO:0042983 neurocutaneous syndrome MONDO:0015356 NCIT:C84348 NCIT:C3266 hereditary neoplastic syndrome +MONDO:0043287 superior vena cava syndrome MONDO:0045054 NCIT:C3396 NCIT:C8278 cancer-related condition +MONDO:0043472 ectopic ACTH secretion syndrome MONDO:0045072 NCIT:C4387 NCIT:C4065 ectopic hormone secretion syndrome associated with neoplasia +MONDO:0043683 Leriche syndrome MONDO:0020673 NCIT:C34773 NCIT:C35318 arterial occlusion +MONDO:0043839 ulcer disease MONDO:0021178 NCIT:C3426 NCIT:C3671 injury +MONDO:0043875 tumor lysis syndrome MONDO:0045054 NCIT:C3425 NCIT:C8278 cancer-related condition +MONDO:0044092 collagenous sprue MONDO:0005130 NCIT:C45426 NCIT:C26714 celiac disease MONDO:0044705 paranasal sinus squamous cell carcinoma MONDO:0044787 NCIT:C8193 NCIT:C68611 nasal cavity and paranasal sinus squamous cell carcinoma +MONDO:0044719 erythema multiforme major MONDO:0006545 NCIT:C3385 NCIT:C3024 erythema multiforme MONDO:0044792 large congenital melanocytic nevus MONDO:0044792 NCIT:C4234 NCIT:C3944 large congenital melanocytic nevus +MONDO:0044792 large congenital melanocytic nevus MONDO:0044794 NCIT:C3944 NCIT:C7571 benign melanocytic skin nevus MONDO:0044873 childhood myelodysplastic syndrome MONDO:0006517 NCIT:C68744 NCIT:C4005 childhood malignant neoplasm MONDO:0045070 digestive system melanoma MONDO:0000544 NCIT:C7091 NCIT:C114828 mucosal melanoma MONDO:0056813 hormone-resistant breast carcinoma MONDO:0004988 NCIT:C114932 NCIT:C5214 breast adenocarcinoma +MONDO:0100081 sleep disorder MONDO:0002025 NCIT:C3376 NCIT:C2893 psychiatric disorder +MONDO:0100135 Dravet syndrome MONDO:0002254 NCIT:C116573 NCIT:C28193 syndromic disease +MONDO:0100137 telomere syndrome MONDO:0002254 NCIT:C152065 NCIT:C28193 syndromic disease +MONDO:0100163 COVID-19–associated multisystem inflammatory syndrome in children MONDO:0002254 NCIT:C172127 NCIT:C28193 syndromic disease +MONDO:0100253 Roberts-SC phocomelia syndrome MONDO:0015356 NCIT:C4681 NCIT:C3266 hereditary neoplastic syndrome +MONDO:0100347 carcinoid syndrome MONDO:0045072 NCIT:C3215 NCIT:C4065 ectopic hormone secretion syndrome associated with neoplasia +MONDO:0100377 acute myeloid leukemia, t(10;11)(p12;q23) MONDO:0004996 NCIT:C132101 NCIT:C9160 childhood acute myeloid leukemia +MONDO:0100377 acute myeloid leukemia, t(10;11)(p12;q23) MONDO:0100404 NCIT:C132101 NCIT:C174129 acute myeloid leukemia, MLL gene rearrangement +MONDO:0100381 acute myeloid leukemia, t(6;11)(q27;q23) MONDO:0004996 NCIT:C132105 NCIT:C9160 childhood acute myeloid leukemia +MONDO:0100381 acute myeloid leukemia, t(6;11)(q27;q23) MONDO:0100404 NCIT:C132105 NCIT:C174129 acute myeloid leukemia, MLL gene rearrangement MONDO:0100396 acute myeloid leukemia, t(7;12)(q36;p13) MONDO:0004996 NCIT:C122690 NCIT:C9160 childhood acute myeloid leukemia +MONDO:0600008 cytokine release syndrome MONDO:0002254 NCIT:C78251 NCIT:C28193 syndromic disease +MONDO:0600030 B-cell acute lymphoblastic leukemia with t(1;19)(q23;p13.3); E2A-PBX1 (TCF3-PBX1) MONDO:0020511 NCIT:C80347 NCIT:C8644 precursor B-cell acute lymphoblastic leukemia MONDO:0700219 neoplastic meningitis MONDO:0003762 NCIT:C3814 NCIT:C8506 malignant leptomeningeal tumor +MONDO:0800445 Birt-Hogg-Dube syndrome 1 MONDO:0015356 NCIT:C28244 NCIT:C3266 hereditary neoplastic syndrome +MONDO:0800486 metabolic bone disorder MONDO:0005066 NCIT:C97045 NCIT:C3235 metabolic disease diff --git a/src/ontology/reports/ncit.subclass.confirmed.robot.tsv b/src/ontology/reports/ncit.subclass.confirmed.robot.tsv index 692ccdc4..2e2a341c 100644 --- a/src/ontology/reports/ncit.subclass.confirmed.robot.tsv +++ b/src/ontology/reports/ncit.subclass.confirmed.robot.tsv @@ -1,6 +1,13 @@ subject_mondo_id subject_mondo_label object_mondo_id subject_source_id object_source_id object_mondo_label ID SC % >A oboInOwl:source +MONDO:0000022 nocturnal enuresis MONDO:0024290 NCIT:C118172 NCIT:C34588 enuresis +MONDO:0000087 polymicrogyria MONDO:0002320 NCIT:C116936 NCIT:C97172 congenital nervous system disorder MONDO:0000147 polyposis MONDO:0021075 NCIT:C4089 NCIT:C7068 neoplastic polyp +MONDO:0000190 ventricular fibrillation MONDO:0007263 NCIT:C50799 NCIT:C2881 cardiac rhythm disease +MONDO:0000327 Buruli ulcer disease MONDO:0020590 NCIT:C84604 NCIT:C26831 mycobacterial infectious disease +MONDO:0000334 multinodular goiter MONDO:0006869 NCIT:C131438 NCIT:C131437 nodular goiter +MONDO:0000359 spondylocostal dysostosis MONDO:0018234 NCIT:C125598 NCIT:C34560 dysostosis +MONDO:0000365 primary congenital glaucoma MONDO:0020366 NCIT:C150251 NCIT:C50648 congenital glaucoma MONDO:0000371 oral cavity carcinoma in situ MONDO:0044925 NCIT:C4587 NCIT:C8990 oral cavity carcinoma MONDO:0000372 pharynx carcinoma in situ MONDO:0004647 NCIT:C4942 NCIT:C2917 in situ carcinoma MONDO:0000372 pharynx carcinoma in situ MONDO:0021345 NCIT:C4942 NCIT:C9466 carcinoma of pharynx @@ -9,15 +16,27 @@ MONDO:0000378 malignant Sertoli cell tumor MONDO:0002696 NCIT:C67006 NCIT:C39976 MONDO:0000380 paranasal sinus carcinoma MONDO:0020669 NCIT:C6014 NCIT:C7487 paranasal sinus cancer MONDO:0000380 paranasal sinus carcinoma MONDO:0056819 NCIT:C6014 NCIT:C54293 nasal cavity and paranasal sinus carcinoma MONDO:0000383 benign reproductive system neoplasm MONDO:0006054 NCIT:C7617 NCIT:C3674 reproductive system neoplasm +MONDO:0000384 bladder benign neoplasm MONDO:0004180 NCIT:C3618 NCIT:C4893 benign urinary system neoplasm MONDO:0000384 bladder benign neoplasm MONDO:0004987 NCIT:C3618 NCIT:C2901 urinary bladder neoplasm MONDO:0000385 benign digestive system neoplasm MONDO:0005165 NCIT:C4787 NCIT:C3677 benign neoplasm MONDO:0000385 benign digestive system neoplasm MONDO:0021223 NCIT:C4787 NCIT:C3052 digestive system neoplasm MONDO:0000386 digestive system neuroendocrine tumor, grade 1/2 MONDO:0024503 NCIT:C95404 NCIT:C27721 digestive system neuroendocrine neoplasm +MONDO:0000390 vitelliform macular dystrophy MONDO:0020242 NCIT:C118788 NCIT:C140264 hereditary macular dystrophy +MONDO:0000396 spastic cerebral palsy MONDO:0006497 NCIT:C116903 NCIT:C34460 cerebral palsy +MONDO:0000397 ataxic cerebral palsy MONDO:0006497 NCIT:C97168 NCIT:C34460 cerebral palsy +MONDO:0000400 mixed cerebral palsy MONDO:0006497 NCIT:C97177 NCIT:C34460 cerebral palsy MONDO:0000402 small cell carcinoma MONDO:0002120 NCIT:C3915 NCIT:C3773 neuroendocrine carcinoma +MONDO:0000410 funisitis MONDO:0024575 NCIT:C97077 NCIT:C35169 pregnancy disorder +MONDO:0000425 X-linked disease MONDO:0003847 NCIT:C85865 NCIT:C3101 hereditary disease MONDO:0000430 mature T-cell and NK-cell non-Hodgkin lymphoma MONDO:0005169 NCIT:C3468 NCIT:C27909 neoplasm of mature T-cells or NK-cells MONDO:0000430 mature T-cell and NK-cell non-Hodgkin lymphoma MONDO:0015760 NCIT:C3468 NCIT:C3466 T-cell non-Hodgkin lymphoma MONDO:0000448 paraganglioma MONDO:0002366 NCIT:C3308 NCIT:C5112 autonomic nervous system neoplasm MONDO:0000448 paraganglioma MONDO:0019496 NCIT:C3308 NCIT:C3809 neuroendocrine neoplasm +MONDO:0000466 first-degree atrioventricular block MONDO:0007263 NCIT:C62015 NCIT:C2881 cardiac rhythm disease +MONDO:0000467 second-degree atrioventricular block MONDO:0007263 NCIT:C111119 NCIT:C2881 cardiac rhythm disease +MONDO:0000468 third-degree atrioventricular block MONDO:0007263 NCIT:C50501 NCIT:C2881 cardiac rhythm disease +MONDO:0000471 tricuspid valve disorder MONDO:0002869 NCIT:C78649 NCIT:C45525 heart valve disorder +MONDO:0000496 hemorrhagic cystitis MONDO:0006032 NCIT:C114666 NCIT:C26738 cystitis MONDO:0000500 tongue squamous cell carcinoma MONDO:0004958 NCIT:C4648 NCIT:C4833 oral cavity squamous cell carcinoma MONDO:0000503 lung adenocarcinoma in situ MONDO:0003218 NCIT:C136486 NCIT:C4123 adenocarcinoma in situ MONDO:0000503 lung adenocarcinoma in situ MONDO:0005061 NCIT:C136486 NCIT:C3512 lung adenocarcinoma @@ -35,6 +54,12 @@ MONDO:0000548 ovarian clear cell cancer MONDO:0018364 NCIT:C40077 NCIT:C40026 ma MONDO:0000548 ovarian clear cell cancer MONDO:0021144 NCIT:C40077 NCIT:C40076 ovarian clear cell tumor MONDO:0000550 extra-adrenal sympathetic paraganglioma MONDO:0021072 NCIT:C48576 NCIT:C4216 sympathetic paraganglioma MONDO:0000552 breast lobular carcinoma MONDO:0004988 NCIT:C3771 NCIT:C5214 breast adenocarcinoma +MONDO:0000565 infective endocarditis MONDO:0005025 NCIT:C78265 NCIT:C34582 endocarditis +MONDO:0000577 congenital anemia MONDO:0002280 NCIT:C35228 NCIT:C2869 anemia +MONDO:0000577 congenital anemia MONDO:0009332 NCIT:C35228 NCIT:C104003 congenital hematological disorder +MONDO:0000595 sexual and gender identity disorders MONDO:0002025 NCIT:C92202 NCIT:C2893 psychiatric disorder +MONDO:0000605 hypersensitivity reaction disease MONDO:0005046 NCIT:C3114 NCIT:C3507 immune system disorder +MONDO:0000607 primary cutaneous T-cell non-Hodgkin lymphoma MONDO:0018898 NCIT:C3467 NCIT:C7162 primary cutaneous lymphoma MONDO:0000620 breast benign neoplasm MONDO:0021100 NCIT:C4505 NCIT:C2910 breast neoplasm MONDO:0000624 benign female reproductive system neoplasm MONDO:0000383 NCIT:C4934 NCIT:C7617 benign reproductive system neoplasm MONDO:0000624 benign female reproductive system neoplasm MONDO:0021148 NCIT:C4934 NCIT:C3053 female reproductive system neoplasm @@ -59,8 +84,20 @@ MONDO:0000648 nervous system benign neoplasm MONDO:0005165 NCIT:C4789 NCIT:C3677 MONDO:0000648 nervous system benign neoplasm MONDO:0021248 NCIT:C4789 NCIT:C3268 nervous system neoplasm MONDO:0000650 peritoneal benign neoplasm MONDO:0006901 NCIT:C8612 NCIT:C3322 peritoneal neoplasm MONDO:0000654 benign connective and soft tissue neoplasm MONDO:0044334 NCIT:C53684 NCIT:C3810 connective and soft tissue neoplasm +MONDO:0000702 microscopic colitis MONDO:0005292 NCIT:C38504 NCIT:C26723 colitis +MONDO:0000703 collagenous colitis MONDO:0000702 NCIT:C27021 NCIT:C38504 microscopic colitis +MONDO:0000704 lymphocytic colitis MONDO:0000702 NCIT:C27147 NCIT:C38504 microscopic colitis +MONDO:0000723 stutter disorder MONDO:0004750 NCIT:C35043 NCIT:C97155 language disorder +MONDO:0000741 angular cheilitis MONDO:0002102 NCIT:C112198 NCIT:C79545 cheilitis +MONDO:0000744 lung abscess MONDO:0005227 NCIT:C99090 NCIT:C26686 abscess +MONDO:0000748 mastoiditis MONDO:0021166 NCIT:C128368 NCIT:C93210 inflammatory disease +MONDO:0000751 cervical polyp MONDO:0002256 NCIT:C2939 NCIT:C40241 cervix disorder +MONDO:0000751 cervical polyp MONDO:0004701 NCIT:C2939 NCIT:C3662 uterine polyp MONDO:0000814 B-cell adult acute lymphocytic leukemia MONDO:0003541 NCIT:C9143 NCIT:C4967 adult acute lymphoblastic leukemia MONDO:0000814 B-cell adult acute lymphocytic leukemia MONDO:0020511 NCIT:C9143 NCIT:C8644 precursor B-cell acute lymphoblastic leukemia +MONDO:0000816 abdominal obesity-metabolic syndrome MONDO:0002254 NCIT:C84442 NCIT:C28193 syndromic disease +MONDO:0000859 spina bifida occulta MONDO:0008449 NCIT:C101044 NCIT:C101214 spina bifida +MONDO:0000870 childhood acute lymphoblastic leukemia MONDO:0004355 NCIT:C3168 NCIT:C4989 childhood leukemia MONDO:0000870 childhood acute lymphoblastic leukemia MONDO:0004967 NCIT:C3168 NCIT:C3167 acute lymphoblastic leukemia MONDO:0000871 T-cell childhood acute lymphocytic leukemia MONDO:0000870 NCIT:C7953 NCIT:C3168 childhood acute lymphoblastic leukemia MONDO:0000871 T-cell childhood acute lymphocytic leukemia MONDO:0004403 NCIT:C7953 NCIT:C5640 childhood precursor T-lymphoblastic lymphoma/leukemia @@ -71,20 +108,28 @@ MONDO:0000873 lymphoblastic lymphoma MONDO:0003538 NCIT:C9360 NCIT:C7055 precurs MONDO:0000873 lymphoblastic lymphoma MONDO:0018908 NCIT:C9360 NCIT:C3211 non-Hodgkin lymphoma MONDO:0000874 T-cell childhood lymphoblastic lymphoma MONDO:0004403 NCIT:C7210 NCIT:C5640 childhood precursor T-lymphoblastic lymphoma/leukemia MONDO:0000875 adult acute monocytic leukemia MONDO:0007896 NCIT:C8263 NCIT:C4861 acute monocytic leukemia +MONDO:0000878 cytomegalovirus retinitis MONDO:0002708 NCIT:C50521 NCIT:C115993 retinitis +MONDO:0000878 cytomegalovirus retinitis MONDO:0005132 NCIT:C50521 NCIT:C53649 cytomegalovirus infection +MONDO:0000888 gastrointestinal mucositis MONDO:0020579 NCIT:C3853 NCIT:C115965 mucositis MONDO:0000892 colon medullary carcinoma MONDO:0002271 NCIT:C60641 NCIT:C4349 colon adenocarcinoma MONDO:0000892 colon medullary carcinoma MONDO:0020794 NCIT:C60641 NCIT:C43590 colorectal medullary carcinoma MONDO:0000893 mixed mucinous and nonmucinous bronchioloalveolar adenocarcinoma MONDO:0004991 NCIT:C7270 NCIT:C2923 minimally invasive lung adenocarcinoma +MONDO:0000918 endometritis MONDO:0000931 NCIT:C26764 NCIT:C3504 endometrial disorder MONDO:0000919 ampulla of vater cancer MONDO:0000921 NCIT:C3536 NCIT:C4443 ampulla of vater neoplasm MONDO:0000920 duodenum cancer MONDO:0000956 NCIT:C9328 NCIT:C7523 small intestine cancer MONDO:0000920 duodenum cancer MONDO:0021375 NCIT:C9328 NCIT:C2995 tumor of duodenum +MONDO:0000923 interstitial emphysema MONDO:0004849 NCIT:C34571 NCIT:C3348 pulmonary emphysema MONDO:0000928 eyelid melanoma MONDO:0006325 NCIT:C4358 NCIT:C8562 ocular melanoma MONDO:0000928 eyelid melanoma MONDO:0021313 NCIT:C4358 NCIT:C6786 eyelid cancer MONDO:0000929 balloon cell malignant melanoma MONDO:0005012 NCIT:C4227 NCIT:C3510 cutaneous melanoma MONDO:0000930 nodular malignant melanoma MONDO:0005012 NCIT:C4225 NCIT:C3510 cutaneous melanoma +MONDO:0000931 endometrial disorder MONDO:0002654 NCIT:C3504 NCIT:C26907 uterine disorder MONDO:0000933 subglottis neoplasm MONDO:0021071 NCIT:C4426 NCIT:C3156 laryngeal neoplasm MONDO:0000934 laryngeal leiomyoma MONDO:0001572 NCIT:C6027 NCIT:C3157 leiomyoma MONDO:0000935 larynx squamous papilloma MONDO:0001825 NCIT:C7742 NCIT:C3712 squamous papilloma MONDO:0000935 larynx squamous papilloma MONDO:0002354 NCIT:C7742 NCIT:C3601 benign laryngeal neoplasm +MONDO:0000939 intracranial abscess MONDO:0005227 NCIT:C34734 NCIT:C26686 abscess +MONDO:0000942 corneal disorder MONDO:0005328 NCIT:C26731 NCIT:C26767 eye disorder MONDO:0000951 thymus lymphoma MONDO:0002586 NCIT:C6451 NCIT:C4962 thymus cancer MONDO:0000951 thymus lymphoma MONDO:0004021 NCIT:C6451 NCIT:C6633 mediastinal malignant lymphoma MONDO:0000956 small intestine cancer MONDO:0004251 NCIT:C7523 NCIT:C4432 small intestine neoplasm @@ -108,22 +153,42 @@ MONDO:0000974 axillary lipoma MONDO:0036781 NCIT:C35419 NCIT:C35750 benign axill MONDO:0000975 lipoma of spermatic cord MONDO:0000976 NCIT:C3606 NCIT:C6384 paratesticular lipoma MONDO:0000976 paratesticular lipoma MONDO:0005106 NCIT:C6384 NCIT:C3192 lipoma MONDO:0000977 chondroid lipoma MONDO:0005106 NCIT:C6503 NCIT:C3192 lipoma +MONDO:0000979 pinta disease MONDO:0007000 NCIT:C85011 NCIT:C85197 Treponema infectious disease +MONDO:0000984 thalassemia MONDO:0019050 NCIT:C35069 NCIT:C3092 inherited hemoglobinopathy +MONDO:0000986 pleurisy MONDO:0002037 NCIT:C26860 NCIT:C26859 pleural disorder MONDO:0000993 prostate squamous cell carcinoma MONDO:0005096 NCIT:C5536 NCIT:C2929 squamous cell carcinoma MONDO:0000994 malignant prostate phyllodes tumor MONDO:0008315 NCIT:C5531 NCIT:C7378 prostate cancer MONDO:0000994 malignant prostate phyllodes tumor MONDO:0021102 NCIT:C5531 NCIT:C7574 prostate phyllodes tumor MONDO:0000994 malignant prostate phyllodes tumor MONDO:0037003 NCIT:C5531 NCIT:C4275 malignant phyllodes tumor MONDO:0000996 prostate lymphoma MONDO:0008315 NCIT:C5533 NCIT:C7378 prostate cancer +MONDO:0001000 mixed mineral dust pneumoconiosis MONDO:0015926 NCIT:C27559 NCIT:C26861 pneumoconiosis +MONDO:0001001 baritosis MONDO:0015926 NCIT:C34410 NCIT:C26861 pneumoconiosis +MONDO:0001003 pneumoconiosis due to talc MONDO:0015926 NCIT:C27026 NCIT:C26861 pneumoconiosis +MONDO:0001004 slate pneumoconiosis MONDO:0015926 NCIT:C35397 NCIT:C26861 pneumoconiosis MONDO:0001014 chronic leukemia MONDO:0005059 NCIT:C3483 NCIT:C3161 leukemia MONDO:0001016 epididymis cancer MONDO:0003283 NCIT:C3558 NCIT:C39958 epididymal neoplasm +MONDO:0001016 epididymis cancer MONDO:0005836 NCIT:C3558 NCIT:C8561 male reproductive organ cancer +MONDO:0001017 epididymal adenocarcinoma MONDO:0001016 NCIT:C39957 NCIT:C3558 epididymis cancer MONDO:0001017 epididymal adenocarcinoma MONDO:0004970 NCIT:C39957 NCIT:C2852 adenocarcinoma MONDO:0001023 prolymphocytic leukemia MONDO:0001014 NCIT:C3181 NCIT:C3483 chronic leukemia +MONDO:0001028 acute pericementitis MONDO:0005076 NCIT:C34354 NCIT:C34918 periodontitis MONDO:0001056 gastric cancer MONDO:0002516 NCIT:C9331 NCIT:C4890 digestive system cancer MONDO:0001056 gastric cancer MONDO:0021085 NCIT:C9331 NCIT:C3387 gastric neoplasm MONDO:0001057 malignant gastric granular cell tumor MONDO:0001056 NCIT:C5484 NCIT:C9331 gastric cancer MONDO:0001057 malignant gastric granular cell tumor MONDO:0003252 NCIT:C5484 NCIT:C4336 granular cell cancer MONDO:0001059 gastric lymphoma MONDO:0001056 NCIT:C4636 NCIT:C9331 gastric cancer MONDO:0001059 gastric lymphoma MONDO:0004699 NCIT:C4636 NCIT:C38162 gastrointestinal lymphoma +MONDO:0001066 late yaws MONDO:0006019 NCIT:C41354 NCIT:C41353 yaws +MONDO:0001067 early yaws MONDO:0006019 NCIT:C41352 NCIT:C41353 yaws +MONDO:0001068 osteomalacia MONDO:0800486 NCIT:C26838 NCIT:C97045 metabolic bone disorder +MONDO:0001074 chronic tic disorder MONDO:0005395 NCIT:C116768 NCIT:C116757 movement disorder +MONDO:0001076 glucose intolerance MONDO:0002908 NCIT:C34646 NCIT:C53655 glucose metabolism disease +MONDO:0001078 tropical sprue MONDO:0020598 NCIT:C45428 NCIT:C3214 malabsorption syndrome +MONDO:0001081 acute cervicitis MONDO:0002345 NCIT:C27056 NCIT:C26716 cervicitis MONDO:0001082 lymph node cancer MONDO:0024339 NCIT:C35812 NCIT:C35497 lymph node neoplasm +MONDO:0001083 Fanconi renotubular syndrome MONDO:0002254 NCIT:C3034 NCIT:C28193 syndromic disease +MONDO:0001085 interstitial nephritis MONDO:0001166 NCIT:C26834 NCIT:C26833 nephritis +MONDO:0001087 schizotypal personality disorder MONDO:0002028 NCIT:C92632 NCIT:C34922 personality disorder MONDO:0001091 lipoma of colon MONDO:0002278 NCIT:C5493 NCIT:C2894 benign colon neoplasm MONDO:0001091 lipoma of colon MONDO:0003885 NCIT:C5493 NCIT:C5678 colorectal lipoma MONDO:0001092 colon leiomyoma MONDO:0002278 NCIT:C5492 NCIT:C2894 benign colon neoplasm @@ -132,36 +197,102 @@ MONDO:0001093 colonic lymphangioma MONDO:0002278 NCIT:C5500 NCIT:C2894 benign co MONDO:0001095 mediastinum neuroblastoma MONDO:0003098 NCIT:C6628 NCIT:C6624 mediastinal neural neoplasm MONDO:0001095 mediastinum neuroblastoma MONDO:0005843 NCIT:C6628 NCIT:C3549 mediastinal cancer MONDO:0001096 mediastinum ganglioneuroblastoma MONDO:0003327 NCIT:C6627 NCIT:C6594 peripheral ganglioneuroblastoma +MONDO:0001110 chronic pyelonephritis MONDO:0006939 NCIT:C123216 NCIT:C34965 pyelonephritis +MONDO:0001114 bacterial myocarditis MONDO:0004496 NCIT:C128380 NCIT:C34831 myocarditis +MONDO:0001116 mesenteric lymphadenitis MONDO:0002052 NCIT:C26830 NCIT:C26821 lymphadenitis +MONDO:0001119 premature menopause MONDO:0001889 NCIT:C80099 NCIT:C113351 ovarian dysfunction +MONDO:0001120 chronic frontal sinusitis MONDO:0001121 NCIT:C34473 NCIT:C34626 frontal sinusitis +MONDO:0001120 chronic frontal sinusitis MONDO:0006031 NCIT:C34473 NCIT:C35151 chronic rhinosinusitis +MONDO:0001121 frontal sinusitis MONDO:0005961 NCIT:C34626 NCIT:C35024 sinusitis +MONDO:0001122 chronic maxillary sinusitis MONDO:0005842 NCIT:C34477 NCIT:C34809 maxillary sinusitis +MONDO:0001122 chronic maxillary sinusitis MONDO:0006031 NCIT:C34477 NCIT:C35151 chronic rhinosinusitis +MONDO:0001123 chronic sphenoidal sinusitis MONDO:0005964 NCIT:C34480 NCIT:C35031 sphenoid sinusitis +MONDO:0001123 chronic sphenoidal sinusitis MONDO:0006031 NCIT:C34480 NCIT:C35151 chronic rhinosinusitis +MONDO:0001126 gastric ulcer MONDO:0004247 NCIT:C3388 NCIT:C3318 peptic ulcer disease MONDO:0001128 nasal cavity cancer MONDO:0004756 NCIT:C4918 NCIT:C4413 nasal cavity neoplasm MONDO:0001129 nasal cavity olfactory neuroblastoma MONDO:0001128 NCIT:C7604 NCIT:C4918 nasal cavity cancer MONDO:0001129 nasal cavity olfactory neuroblastoma MONDO:0006329 NCIT:C7604 NCIT:C3789 olfactory neuroblastoma MONDO:0001130 nasal cavity lymphoma MONDO:0001128 NCIT:C6074 NCIT:C4918 nasal cavity cancer +MONDO:0001132 sexual sadism disorder MONDO:0000595 NCIT:C94358 NCIT:C92202 sexual and gender identity disorders +MONDO:0001139 sexual masochism disorder MONDO:0000595 NCIT:C94356 NCIT:C92202 sexual and gender identity disorders +MONDO:0001147 meningocele MONDO:0002320 NCIT:C105595 NCIT:C97172 congenital nervous system disorder +MONDO:0001156 borderline personality disorder MONDO:0002028 NCIT:C92633 NCIT:C34922 personality disorder +MONDO:0001157 dependent personality disorder MONDO:0002028 NCIT:C92637 NCIT:C34922 personality disorder +MONDO:0001158 obsessive-compulsive personality disorder MONDO:0002028 NCIT:C92638 NCIT:C34922 personality disorder +MONDO:0001159 multiple personality disorder MONDO:0001160 NCIT:C94330 NCIT:C92197 dissociative disorder +MONDO:0001160 dissociative disorder MONDO:0002025 NCIT:C92197 NCIT:C2893 psychiatric disorder +MONDO:0001161 schizoid personality disorder MONDO:0002028 NCIT:C92631 NCIT:C34922 personality disorder +MONDO:0001162 impulse control disorder MONDO:0002025 NCIT:C34723 NCIT:C2893 psychiatric disorder +MONDO:0001163 paranoid personality disorder MONDO:0002028 NCIT:C92630 NCIT:C34922 personality disorder +MONDO:0001164 antisocial personality disorder MONDO:0002028 NCIT:C88413 NCIT:C34922 personality disorder +MONDO:0001173 acute salpingitis MONDO:0003619 NCIT:C40120 NCIT:C26880 salpingitis +MONDO:0001174 conjunctival vascular disorder MONDO:0005552 NCIT:C35116 NCIT:C35664 ocular vascular disorder +MONDO:0001176 lens disorder MONDO:0005328 NCIT:C26812 NCIT:C26767 eye disorder +MONDO:0001180 bullous keratopathy MONDO:0002261 NCIT:C26970 NCIT:C27012 keratopathy +MONDO:0001185 dissociative amnesia MONDO:0001160 NCIT:C94328 NCIT:C92197 dissociative disorder +MONDO:0001186 depersonalization disorder MONDO:0001160 NCIT:C94331 NCIT:C92197 dissociative disorder MONDO:0001187 urinary bladder cancer MONDO:0004987 NCIT:C9334 NCIT:C2901 urinary bladder neoplasm +MONDO:0001187 urinary bladder cancer MONDO:0006295 NCIT:C9334 NCIT:C9297 malignant urinary system neoplasm MONDO:0001188 esophagus lymphoma MONDO:0004699 NCIT:C5687 NCIT:C38162 gastrointestinal lymphoma MONDO:0001188 esophagus lymphoma MONDO:0007576 NCIT:C5687 NCIT:C7478 esophageal cancer MONDO:0001192 esophageal melanoma MONDO:0007576 NCIT:C5707 NCIT:C7478 esophageal cancer MONDO:0001192 esophageal melanoma MONDO:0045070 NCIT:C5707 NCIT:C7091 digestive system melanoma MONDO:0001204 esophagus sarcoma MONDO:0007576 NCIT:C5341 NCIT:C7478 esophageal cancer +MONDO:0001208 acute respiratory failure MONDO:0021113 NCIT:C27043 NCIT:C26872 respiratory failure MONDO:0001209 common wart MONDO:0024666 NCIT:C27087 NCIT:C7341 benign epithelial skin neoplasm +MONDO:0001214 acute conjunctivitis MONDO:0003799 NCIT:C35195 NCIT:C34504 conjunctivitis +MONDO:0001217 pseudomembranous conjunctivitis MONDO:0006668 NCIT:C35196 NCIT:C53656 bacterial conjunctivitis +MONDO:0001222 congenital T-cell immunodeficiency MONDO:0003780 NCIT:C27872 NCIT:C27145 T-cell immunodeficiency +MONDO:0001224 Angelucci syndrome MONDO:0001214 NCIT:C34353 NCIT:C35195 acute conjunctivitis +MONDO:0001224 Angelucci syndrome MONDO:0005642 NCIT:C34353 NCIT:C34506 atopic conjunctivitis +MONDO:0001226 acute contagious conjunctivitis MONDO:0001214 NCIT:C35704 NCIT:C35195 acute conjunctivitis MONDO:0001235 appendix cancer MONDO:0001236 NCIT:C9333 NCIT:C4434 appendiceal neoplasm MONDO:0001237 appendix lymphoma MONDO:0001235 NCIT:C5513 NCIT:C9333 appendix cancer +MONDO:0001242 disseminated intravascular coagulation in newborn MONDO:0001243 NCIT:C111856 NCIT:C2992 disseminated intravascular coagulation +MONDO:0001244 vitamin K deficiency hemorrhagic disease MONDO:0024298 NCIT:C99108 NCIT:C35772 vitamin deficiency disorder +MONDO:0001245 microcytic anemia MONDO:0002280 NCIT:C35141 NCIT:C2869 anemia +MONDO:0001247 social phobia MONDO:0003699 NCIT:C34927 NCIT:C35420 phobic disorder +MONDO:0001252 Plummer disease MONDO:0004425 NCIT:C35171 NCIT:C3123 hyperthyroidism +MONDO:0001261 Mobitz type II atrioventricular block MONDO:0000467 NCIT:C62018 NCIT:C111119 second-degree atrioventricular block +MONDO:0001269 scleral disorder MONDO:0005328 NCIT:C79717 NCIT:C26767 eye disorder +MONDO:0001271 lens subluxation MONDO:0001176 NCIT:C34772 NCIT:C26812 lens disorder MONDO:0001275 spinal meningioma MONDO:0001279 NCIT:C6935 NCIT:C5134 intraspinal meningioma MONDO:0001275 spinal meningioma MONDO:0021234 NCIT:C6935 NCIT:C3381 spinal cord neoplasm +MONDO:0001276 expressive language disorder MONDO:0004750 NCIT:C92562 NCIT:C97155 language disorder +MONDO:0001282 fallopian tube endometriosis MONDO:0005133 NCIT:C26763 NCIT:C3014 endometriosis +MONDO:0001286 exotropia MONDO:0003432 NCIT:C34601 NCIT:C35040 strabismus +MONDO:0001288 endometriosis of rectovaginal septum and vagina MONDO:0005133 NCIT:C128064 NCIT:C3014 endometriosis +MONDO:0001290 allergic cutaneous vasculitis MONDO:0020576 NCIT:C35119 NCIT:C112210 cutaneous vasculitis MONDO:0001293 subglottis cancer MONDO:0000933 NCIT:C3546 NCIT:C4426 subglottis neoplasm MONDO:0001293 subglottis cancer MONDO:0002352 NCIT:C3546 NCIT:C7484 larynx cancer +MONDO:0001298 congenital mitral valve insufficiency MONDO:0003767 NCIT:C50888 NCIT:C78446 mitral valve disorder +MONDO:0001299 diabetic autonomic neuropathy MONDO:0001300 NCIT:C27068 NCIT:C27033 autonomic neuropathy +MONDO:0001299 diabetic autonomic neuropathy MONDO:0006626 NCIT:C27068 NCIT:C26748 diabetic neuropathy +MONDO:0001300 autonomic neuropathy MONDO:0005244 NCIT:C27033 NCIT:C4731 peripheral neuropathy +MONDO:0001307 corneal abscess MONDO:0005227 NCIT:C26969 NCIT:C26686 abscess +MONDO:0001307 corneal abscess MONDO:0023865 NCIT:C26969 NCIT:C83813 corneal infection MONDO:0001309 oculomotor nerve paralysis MONDO:0002782 NCIT:C27597 NCIT:C26941 cranial nerve palsy MONDO:0001309 oculomotor nerve paralysis MONDO:0003546 NCIT:C27597 NCIT:C27598 third cranial nerve disorder +MONDO:0001314 chondrocalcinosis MONDO:0005578 NCIT:C34955 NCIT:C2883 arthritic joint disease +MONDO:0001314 chondrocalcinosis MONDO:0800486 NCIT:C34955 NCIT:C97045 metabolic bone disorder MONDO:0001322 pericardium cancer MONDO:0021381 NCIT:C4567 NCIT:C4651 neoplasm of pericardium MONDO:0001325 penile cancer MONDO:0005836 NCIT:C7547 NCIT:C8561 male reproductive organ cancer MONDO:0001325 penile cancer MONDO:0006895 NCIT:C7547 NCIT:C3317 penile neoplasm MONDO:0001340 heart cancer MONDO:0002100 NCIT:C3548 NCIT:C114940 cardiovascular cancer MONDO:0001340 heart cancer MONDO:0003274 NCIT:C3548 NCIT:C3576 thoracic cancer MONDO:0001340 heart cancer MONDO:0021209 NCIT:C3548 NCIT:C3081 heart neoplasm +MONDO:0001357 hypochromic anemia MONDO:0002280 NCIT:C34380 NCIT:C2869 anemia +MONDO:0001369 chronic laryngitis MONDO:0002647 NCIT:C26975 NCIT:C26811 laryngitis +MONDO:0001371 protein-energy malnutrition MONDO:0006873 NCIT:C34952 NCIT:C3669 nutritional deficiency disease MONDO:0001374 bladder sarcoma MONDO:0001187 NCIT:C4669 NCIT:C9334 urinary bladder cancer MONDO:0001374 bladder sarcoma MONDO:0018078 NCIT:C4669 NCIT:C9306 soft tissue sarcoma MONDO:0001381 bladder lymphoma MONDO:0001187 NCIT:C6164 NCIT:C9334 urinary bladder cancer +MONDO:0001382 hepatorenal syndrome MONDO:0002254 NCIT:C113400 NCIT:C28193 syndromic disease +MONDO:0001385 cortical blindness MONDO:0001941 NCIT:C118707 NCIT:C97109 blindness (disorder) +MONDO:0001386 visual epilepsy MONDO:0017768 NCIT:C3980 NCIT:C85041 reflex epilepsy MONDO:0001387 penile sarcoma MONDO:0001325 NCIT:C7730 NCIT:C7547 penile cancer MONDO:0001387 penile sarcoma MONDO:0018078 NCIT:C7730 NCIT:C9306 soft tissue sarcoma +MONDO:0001398 ureter benign neoplasm MONDO:0004180 NCIT:C3617 NCIT:C4893 benign urinary system neoplasm MONDO:0001398 ureter benign neoplasm MONDO:0021111 NCIT:C3617 NCIT:C3427 ureter neoplasm MONDO:0001399 ureter leiomyoma MONDO:0001398 NCIT:C6161 NCIT:C3617 ureter benign neoplasm MONDO:0001399 ureter leiomyoma MONDO:0001572 NCIT:C6161 NCIT:C3157 leiomyoma @@ -170,9 +301,11 @@ MONDO:0001400 schwannoma of ureter MONDO:0004820 NCIT:C6162 NCIT:C41430 peripher MONDO:0001402 vaginal cancer MONDO:0001416 NCIT:C7410 NCIT:C4913 female reproductive organ cancer MONDO:0001402 vaginal cancer MONDO:0021050 NCIT:C7410 NCIT:C3437 vaginal neoplasm MONDO:0001403 labium majus cancer MONDO:0001528 NCIT:C7638 NCIT:C7502 vulva cancer +MONDO:0001405 dermatophytosis of groin and perianal area MONDO:0004678 NCIT:C34535 NCIT:C26745 dermatophytosis MONDO:0001406 peripheral nervous system neoplasm MONDO:0003620 NCIT:C3321 NCIT:C27580 peripheral nervous system disorder MONDO:0001406 peripheral nervous system neoplasm MONDO:0021248 NCIT:C3321 NCIT:C3268 nervous system neoplasm MONDO:0001407 tracheal cancer MONDO:0021210 NCIT:C9346 NCIT:C3419 trachea neoplasm +MONDO:0001408 ischemic neuropathy MONDO:0005244 NCIT:C27025 NCIT:C4731 peripheral neuropathy MONDO:0001416 female reproductive organ cancer MONDO:0002149 NCIT:C4913 NCIT:C36076 reproductive system cancer MONDO:0001416 female reproductive organ cancer MONDO:0021148 NCIT:C4913 NCIT:C3053 female reproductive system neoplasm MONDO:0001417 tracheal lymphoma MONDO:0001407 NCIT:C6248 NCIT:C9346 tracheal cancer @@ -185,56 +318,113 @@ MONDO:0001420 trigeminal nerve neoplasm MONDO:0003543 NCIT:C5122 NCIT:C26952 tri MONDO:0001421 frontal lobe neoplasm MONDO:0021374 NCIT:C5572 NCIT:C4874 neoplasm of cerebral hemisphere MONDO:0001426 mediastinum neurofibroma MONDO:0003098 NCIT:C6631 NCIT:C6624 mediastinal neural neoplasm MONDO:0001426 mediastinum neurofibroma MONDO:0016755 NCIT:C6631 NCIT:C3272 neurofibroma +MONDO:0001429 transient arthropathy MONDO:0006816 NCIT:C35761 NCIT:C35760 arthropathy +MONDO:0001433 vaginal disorder MONDO:0002263 NCIT:C26910 NCIT:C27020 female reproductive system disorder +MONDO:0001442 dysthymic disorder MONDO:0005371 NCIT:C34562 NCIT:C92200 mood disorder +MONDO:0001451 peripheral retinal degeneration MONDO:0004580 NCIT:C34919 NCIT:C34979 retinal degeneration MONDO:0001470 anal margin squamous cell carcinoma MONDO:0002529 NCIT:C6925 NCIT:C4819 skin squamous cell carcinoma MONDO:0001470 anal margin squamous cell carcinoma MONDO:0002941 NCIT:C6925 NCIT:C7472 anal margin carcinoma MONDO:0001470 anal margin squamous cell carcinoma MONDO:0006082 NCIT:C6925 NCIT:C9161 anal squamous cell carcinoma MONDO:0001472 testicular lymphoma MONDO:0005447 NCIT:C6810 NCIT:C7251 testicular cancer +MONDO:0001479 cutaneous diphtheria MONDO:0021201 NCIT:C34544 NCIT:C35025 skin infection MONDO:0001482 testicular leukemia MONDO:0005059 NCIT:C9277 NCIT:C3161 leukemia MONDO:0001482 testicular leukemia MONDO:0005447 NCIT:C9277 NCIT:C7251 testicular cancer +MONDO:0001484 paranoid schizophrenia MONDO:0005090 NCIT:C35006 NCIT:C3362 schizophrenia MONDO:0001499 retroperitoneal lymphoma MONDO:0005941 NCIT:C7353 NCIT:C3537 retroperitoneal cancer MONDO:0001501 retroperitoneal sarcoma MONDO:0005941 NCIT:C4832 NCIT:C3537 retroperitoneal cancer MONDO:0001501 retroperitoneal sarcoma MONDO:0018078 NCIT:C4832 NCIT:C9306 soft tissue sarcoma MONDO:0001502 retroperitoneum carcinoma MONDO:0004993 NCIT:C7352 NCIT:C2916 carcinoma MONDO:0001502 retroperitoneum carcinoma MONDO:0005941 NCIT:C7352 NCIT:C3537 retroperitoneal cancer +MONDO:0001505 alcoholic hepatitis MONDO:0002251 NCIT:C34684 NCIT:C3095 hepatitis +MONDO:0001505 alcoholic hepatitis MONDO:0043693 NCIT:C34684 NCIT:C34783 alcoholic liver diseases +MONDO:0001520 kleptomania MONDO:0001162 NCIT:C94333 NCIT:C34723 impulse control disorder +MONDO:0001521 intermittent explosive disorder MONDO:0001162 NCIT:C94332 NCIT:C34723 impulse control disorder +MONDO:0001522 pyromania MONDO:0001162 NCIT:C94334 NCIT:C34723 impulse control disorder MONDO:0001526 labia minora cancer MONDO:0001528 NCIT:C7637 NCIT:C7502 vulva cancer MONDO:0001528 vulva cancer MONDO:0001416 NCIT:C7502 NCIT:C4913 female reproductive organ cancer MONDO:0001528 vulva cancer MONDO:0021049 NCIT:C7502 NCIT:C3443 vulvar neoplasm MONDO:0001536 vaginal leiomyoma MONDO:0000647 NCIT:C6373 NCIT:C3610 benign vaginal neoplasm MONDO:0001536 vaginal leiomyoma MONDO:0001572 NCIT:C6373 NCIT:C3157 leiomyoma +MONDO:0001540 bagassosis MONDO:0017853 NCIT:C34409 NCIT:C34369 hypersensitivity pneumonitis +MONDO:0001549 hemolytic-uremic syndrome MONDO:0001531 NCIT:C75545 NCIT:C2902 blood coagulation disease +MONDO:0001552 dyscalculia MONDO:0004681 NCIT:C97165 NCIT:C89334 learning disability +MONDO:0001555 neonatal thyrotoxicosis MONDO:0010138 NCIT:C114906 NCIT:C61469 thyrotoxicosis +MONDO:0001558 Potter sequence MONDO:0002254 NCIT:C40435 NCIT:C28193 syndromic disease +MONDO:0001560 hypertrophic pyloric stenosis MONDO:0001561 NCIT:C98952 NCIT:C34966 pyloric stenosis +MONDO:0001563 vestibulocochlear nerve disorder MONDO:0003569 NCIT:C27207 NCIT:C26733 cranial nerve neuropathy +MONDO:0001568 mixed receptive-expressive language disorder MONDO:0004750 NCIT:C92563 NCIT:C97155 language disorder MONDO:0001569 acoustic neuroma MONDO:0002546 NCIT:C3276 NCIT:C3269 schwannoma MONDO:0001572 leiomyoma MONDO:0006106 NCIT:C3157 NCIT:C6510 benign smooth muscle neoplasm +MONDO:0001576 telangiectasis MONDO:0021658 NCIT:C28194 NCIT:C45481 vascular ectasia +MONDO:0001577 respiratory syncytial virus infectious disease MONDO:0024352 NCIT:C3354 NCIT:C27219 viral respiratory tract infection +MONDO:0001586 mucopolysaccharidosis type 1 MONDO:0019249 NCIT:C85053 NCIT:C61259 mucopolysaccharidosis +MONDO:0001595 choreatic disease MONDO:0005395 NCIT:C84633 NCIT:C116757 movement disorder MONDO:0001602 labia minora carcinoma MONDO:0001526 NCIT:C9364 NCIT:C7637 labia minora cancer MONDO:0001602 labia minora carcinoma MONDO:0005215 NCIT:C9364 NCIT:C4866 vulvar carcinoma MONDO:0001606 central nervous system leukemia MONDO:0003641 NCIT:C5440 NCIT:C5503 central nervous system hematopoietic neoplasm MONDO:0001606 central nervous system leukemia MONDO:0005059 NCIT:C5440 NCIT:C3161 leukemia MONDO:0001608 vagus nerve neoplasm MONDO:0001535 NCIT:C5831 NCIT:C27591 vagus nerve disorder +MONDO:0001609 agranulocytosis MONDO:0003785 NCIT:C2863 NCIT:C26816 leukopenia +MONDO:0001612 carotid stenosis MONDO:0005269 NCIT:C95804 NCIT:C84476 carotid artery disorder +MONDO:0001615 epidemic keratoconjunctivitis MONDO:0004768 NCIT:C34590 NCIT:C34744 keratoconjunctivitis +MONDO:0001621 tick-borne relapsing fever MONDO:0006956 NCIT:C34976 NCIT:C34991 Rickettsiosis +MONDO:0001627 dementia MONDO:0002039 NCIT:C4786 NCIT:C92196 cognitive disorder +MONDO:0001628 tinea unguium MONDO:0024487 NCIT:C112214 NCIT:C78493 nail infection +MONDO:0001630 branch retinal artery occlusion MONDO:0006948 NCIT:C34436 NCIT:C34978 retinal artery occlusion +MONDO:0001631 vertebral artery insufficiency MONDO:0002254 NCIT:C35123 NCIT:C28193 syndromic disease +MONDO:0001633 central retinal artery occlusion MONDO:0006948 NCIT:C34456 NCIT:C34978 retinal artery occlusion MONDO:0001634 bladder leiomyoma MONDO:0000384 NCIT:C6178 NCIT:C3618 bladder benign neoplasm MONDO:0001634 bladder leiomyoma MONDO:0001572 NCIT:C6178 NCIT:C3157 leiomyoma MONDO:0001635 bladder squamous papilloma MONDO:0000384 NCIT:C39834 NCIT:C3618 bladder benign neoplasm +MONDO:0001635 bladder squamous papilloma MONDO:0001825 NCIT:C39834 NCIT:C3712 squamous papilloma +MONDO:0001641 severe pre-eclampsia MONDO:0005081 NCIT:C112843 NCIT:C85021 preeclampsia +MONDO:0001648 esophageal candidiasis MONDO:0001649 NCIT:C27027 NCIT:C27107 fungal esophagitis +MONDO:0001648 esophageal candidiasis MONDO:0002026 NCIT:C27027 NCIT:C26711 candidiasis +MONDO:0001649 fungal esophagitis MONDO:0001409 NCIT:C27107 NCIT:C9224 esophagitis +MONDO:0001649 fungal esophagitis MONDO:0002041 NCIT:C27107 NCIT:C3245 fungal infectious disease MONDO:0001651 scrotum squamous cell carcinoma MONDO:0002650 NCIT:C4643 NCIT:C6389 scrotal carcinoma +MONDO:0001654 spermatic cord cancer MONDO:0005836 NCIT:C3559 NCIT:C8561 male reproductive organ cancer MONDO:0001657 brain cancer MONDO:0021211 NCIT:C3568 NCIT:C2907 brain neoplasm +MONDO:0001658 nontoxic goiter MONDO:0005397 NCIT:C35271 NCIT:C26785 goiter +MONDO:0001660 proliferative diabetic retinopathy MONDO:0005266 NCIT:C84457 NCIT:C34538 diabetic retinopathy +MONDO:0001661 background diabetic retinopathy MONDO:0005266 NCIT:C35668 NCIT:C34538 diabetic retinopathy MONDO:0001680 vaginal mullerian papilloma MONDO:0000647 NCIT:C40255 NCIT:C3610 benign vaginal neoplasm MONDO:0001680 vaginal mullerian papilloma MONDO:0001704 NCIT:C40255 NCIT:C40250 vaginal glandular neoplasm +MONDO:0001680 vaginal mullerian papilloma MONDO:0021078 NCIT:C40255 NCIT:C6880 glandular papilloma +MONDO:0001700 megaloblastic anemia MONDO:0002281 NCIT:C34382 NCIT:C34381 macrocytic anemia MONDO:0001702 labia majora carcinoma MONDO:0001403 NCIT:C9363 NCIT:C7638 labium majus cancer MONDO:0001702 labia majora carcinoma MONDO:0005215 NCIT:C9363 NCIT:C4866 vulvar carcinoma +MONDO:0001703 color vision disorder MONDO:0001941 NCIT:C3891 NCIT:C97109 blindness (disorder) MONDO:0001704 vaginal glandular neoplasm MONDO:0021050 NCIT:C40250 NCIT:C3437 vaginal neoplasm MONDO:0001704 vaginal glandular neoplasm MONDO:0024276 NCIT:C40250 NCIT:C7132 glandular cell neoplasm +MONDO:0001707 cardiac sarcoidosis MONDO:0019338 NCIT:C35589 NCIT:C34995 sarcoidosis +MONDO:0001708 pulmonary sarcoidosis MONDO:0019338 NCIT:C34997 NCIT:C34995 sarcoidosis +MONDO:0001709 hypercalcemic sarcoidosis MONDO:0019338 NCIT:C35807 NCIT:C34995 sarcoidosis +MONDO:0001718 scleritis MONDO:0001269 NCIT:C119046 NCIT:C79717 scleral disorder MONDO:0001724 supraglottis cancer MONDO:0002352 NCIT:C3545 NCIT:C7484 larynx cancer MONDO:0001724 supraglottis cancer MONDO:0004427 NCIT:C3545 NCIT:C6793 supraglottis neoplasm +MONDO:0001725 balanitis xerotica obliterans MONDO:0006672 NCIT:C3523 NCIT:C26705 balanitis MONDO:0001731 benign vaginal mixed epithelial and mesenchymal neoplasm MONDO:0000647 NCIT:C40275 NCIT:C3610 benign vaginal neoplasm +MONDO:0001732 trigonitis MONDO:0006032 NCIT:C123175 NCIT:C26738 cystitis +MONDO:0001734 tuberous sclerosis MONDO:0042983 NCIT:C3424 NCIT:C84348 neurocutaneous syndrome +MONDO:0001737 tetanus neonatorum MONDO:0005526 NCIT:C116814 NCIT:C85185 tetanus MONDO:0001740 cornea squamous cell carcinoma MONDO:0002466 NCIT:C4552 NCIT:C6079 eye carcinoma MONDO:0001740 cornea squamous cell carcinoma MONDO:0003802 NCIT:C4552 NCIT:C3565 cornea cancer +MONDO:0001741 hyperparathyroidism MONDO:0001223 NCIT:C48259 NCIT:C26844 parathyroid gland disorder MONDO:0001743 paranasal sinus lymphoma MONDO:0020669 NCIT:C6068 NCIT:C7487 paranasal sinus cancer MONDO:0001748 maxillary sinus carcinoma MONDO:0000380 NCIT:C9332 NCIT:C6014 paranasal sinus carcinoma MONDO:0001748 maxillary sinus carcinoma MONDO:0006850 NCIT:C3540 NCIT:C3219 maxillary sinus neoplasm +MONDO:0001754 eclampsia MONDO:0045048 NCIT:C87167 NCIT:C34943 toxemia of pregnancy MONDO:0001756 frontal sinus cancer MONDO:0001757 NCIT:C3542 NCIT:C4419 frontal sinus neoplasm MONDO:0001757 frontal sinus neoplasm MONDO:0005289 NCIT:C4419 NCIT:C7488 paranasal sinus neoplasm +MONDO:0001760 photokeratitis MONDO:0003085 NCIT:C118750 NCIT:C26805 keratitis MONDO:0001763 ethmoid sinus cancer MONDO:0001764 NCIT:C3541 NCIT:C4416 ethmoidal sinus neoplasm MONDO:0001764 ethmoidal sinus neoplasm MONDO:0005289 NCIT:C4416 NCIT:C7488 paranasal sinus neoplasm MONDO:0001778 dermoid cyst of skin MONDO:0002378 NCIT:C4632 NCIT:C9011 dermoid cyst MONDO:0001779 vaginal squamous papilloma MONDO:0000647 NCIT:C6374 NCIT:C3610 benign vaginal neoplasm MONDO:0001779 vaginal squamous papilloma MONDO:0001806 NCIT:C6374 NCIT:C40242 vaginal squamous tumor MONDO:0001779 vaginal squamous papilloma MONDO:0001825 NCIT:C6374 NCIT:C3712 squamous papilloma +MONDO:0001780 premature ejaculation MONDO:0000595 NCIT:C94349 NCIT:C92202 sexual and gender identity disorders MONDO:0001781 uterine corpus adenomatoid tumor MONDO:0004230 NCIT:C27250 NCIT:C3762 adenomatoid tumor MONDO:0001781 uterine corpus adenomatoid tumor MONDO:0021525 NCIT:C27250 NCIT:C3608 benign neoplasm of corpus uteri MONDO:0001783 endometrial stromal nodule MONDO:0021525 NCIT:C4262 NCIT:C3608 benign neoplasm of corpus uteri @@ -242,10 +432,18 @@ MONDO:0001783 endometrial stromal nodule MONDO:0044335 NCIT:C4262 NCIT:C4242 ben MONDO:0001789 neurofibroma of spinal cord MONDO:0016755 NCIT:C5145 NCIT:C3272 neurofibroma MONDO:0001790 spinal cord lipoma MONDO:0003844 NCIT:C4619 NCIT:C5451 central nervous system lipoma MONDO:0001790 spinal cord lipoma MONDO:0021506 NCIT:C4619 NCIT:C3627 benign neoplasm of spinal cord +MONDO:0001794 Pthirus pubis infestation MONDO:0021201 NCIT:C35777 NCIT:C35025 skin infection MONDO:0001795 plantar wart MONDO:0024666 NCIT:C26913 NCIT:C7341 benign epithelial skin neoplasm MONDO:0001806 vaginal squamous tumor MONDO:0002532 NCIT:C40242 NCIT:C3792 squamous cell neoplasm MONDO:0001806 vaginal squamous tumor MONDO:0021050 NCIT:C40242 NCIT:C3437 vaginal neoplasm +MONDO:0001810 hypoglossal nerve disorder MONDO:0003569 NCIT:C26954 NCIT:C26733 cranial nerve neuropathy +MONDO:0001811 tetanic cataract MONDO:0005129 NCIT:C35068 NCIT:C26713 cataract +MONDO:0001823 sick sinus syndrome MONDO:0002254 NCIT:C62244 NCIT:C28193 syndromic disease +MONDO:0001824 polyneuropathy MONDO:0005244 NCIT:C26951 NCIT:C4731 peripheral neuropathy MONDO:0001825 squamous papilloma MONDO:0002363 NCIT:C3712 NCIT:C7440 papilloma +MONDO:0001828 acquired color blindness MONDO:0001703 NCIT:C118712 NCIT:C3891 color vision disorder +MONDO:0001832 bacterial esophagitis MONDO:0001409 NCIT:C27106 NCIT:C9224 esophagitis +MONDO:0001834 visual pathway disorder MONDO:0021084 NCIT:C35342 NCIT:C35126 vision disorder MONDO:0001841 uterine corpus epithelioid leiomyoma MONDO:0007886 NCIT:C40164 NCIT:C3434 uterine corpus leiomyoma MONDO:0001842 uterine corpus dissecting leiomyoma MONDO:0007886 NCIT:C40172 NCIT:C3434 uterine corpus leiomyoma MONDO:0001844 uterine corpus myxoid leiomyoma MONDO:0007886 NCIT:C40166 NCIT:C3434 uterine corpus leiomyoma @@ -254,7 +452,10 @@ MONDO:0001846 uterine corpus bizarre leiomyoma MONDO:0003288 NCIT:C40167 NCIT:C4 MONDO:0001846 uterine corpus bizarre leiomyoma MONDO:0007886 NCIT:C40167 NCIT:C3434 uterine corpus leiomyoma MONDO:0001852 small intestine lymphoma MONDO:0000956 NCIT:C4007 NCIT:C7523 small intestine cancer MONDO:0001852 small intestine lymphoma MONDO:0004699 NCIT:C4007 NCIT:C38162 gastrointestinal lymphoma +MONDO:0001854 lacrimal apparatus disorder MONDO:0005328 NCIT:C26809 NCIT:C26767 eye disorder +MONDO:0001871 acute diffuse glomerulonephritis MONDO:0003137 NCIT:C35587 NCIT:C35799 diffuse glomerulonephritis MONDO:0001879 anus cancer MONDO:0003046 NCIT:C7379 NCIT:C2877 anus neoplasm +MONDO:0001881 toxic shock syndrome MONDO:0002254 NCIT:C35498 NCIT:C28193 syndromic disease MONDO:0001884 abducens nerve neoplasm MONDO:0002633 NCIT:C5826 NCIT:C2963 cranial nerve neoplasm MONDO:0001884 abducens nerve neoplasm MONDO:0020594 NCIT:C5826 NCIT:C27593 abducens nerve disorder MONDO:0001888 anus lymphoma MONDO:0001879 NCIT:C5601 NCIT:C7379 anus cancer @@ -264,12 +465,32 @@ MONDO:0001893 spinal cord melanoma MONDO:0003544 NCIT:C5158 NCIT:C3572 spinal co MONDO:0001893 spinal cord melanoma MONDO:0016747 NCIT:C5158 NCIT:C5505 primary melanoma of the central nervous system MONDO:0001894 spinal cord sarcoma MONDO:0002217 NCIT:C5152 NCIT:C5153 central nervous system sarcoma MONDO:0001894 spinal cord sarcoma MONDO:0003544 NCIT:C5152 NCIT:C3572 spinal cord cancer +MONDO:0001896 obstructive hydrocephalus MONDO:0001150 NCIT:C116347 NCIT:C3111 hydrocephalus +MONDO:0001898 optic choroid disorder MONDO:0002661 NCIT:C34468 NCIT:C26908 uveal disorder +MONDO:0001901 selective IgG subclass deficiency MONDO:0045045 NCIT:C27024 NCIT:C27142 selective IgG immunodeficiency +MONDO:0001907 adult dermatomyositis MONDO:0016367 NCIT:C27313 NCIT:C26744 dermatomyositis +MONDO:0001922 pyoureter MONDO:0005227 NCIT:C35666 NCIT:C26686 abscess +MONDO:0001926 ureteral disorder MONDO:0002118 NCIT:C27148 NCIT:C3430 urinary system disorder +MONDO:0001927 pulmonary valve insufficiency MONDO:0003628 NCIT:C50848 NCIT:C78579 pulmonary valve disorder +MONDO:0001928 suppurative cholangitis MONDO:0004789 NCIT:C35336 NCIT:C26718 cholangitis +MONDO:0001929 ascending cholangitis MONDO:0004789 NCIT:C35372 NCIT:C26718 cholangitis +MONDO:0001930 acute cholangitis MONDO:0004789 NCIT:C35334 NCIT:C26718 cholangitis +MONDO:0001933 endocrine pancreas disorder MONDO:0002356 NCIT:C27067 NCIT:C26842 pancreas disorder MONDO:0001939 skin epithelioid hemangioma MONDO:0003110 NCIT:C7393 NCIT:C4905 skin hemangioma MONDO:0001939 skin epithelioid hemangioma MONDO:0021169 NCIT:C7393 NCIT:C4298 epithelioid hemangioma +MONDO:0001942 generalized anxiety disorder MONDO:0005618 NCIT:C92622 NCIT:C2878 anxiety disorder +MONDO:0001943 Plasmodium malariae malaria MONDO:0005136 NCIT:C34799 NCIT:C34797 malaria +MONDO:0001945 postencephalitic Parkinson disease MONDO:0006966 NCIT:C34898 NCIT:C34899 secondary Parkinson disease +MONDO:0001947 suppurative thyroiditis MONDO:0004126 NCIT:C129724 NCIT:C26894 thyroiditis +MONDO:0001951 Norwegian scabies MONDO:0004525 NCIT:C34855 NCIT:C34998 scabies +MONDO:0001956 capillary leak syndrome MONDO:0002254 NCIT:C62578 NCIT:C28193 syndromic disease MONDO:0001974 hemangioma of orbit MONDO:0006500 NCIT:C6245 NCIT:C3085 hemangioma MONDO:0001975 cavernous hemangioma of orbit MONDO:0003155 NCIT:C4546 NCIT:C3086 cavernous hemangioma MONDO:0001977 ureteral lymphoma MONDO:0008627 NCIT:C6175 NCIT:C7543 ureter cancer MONDO:0001978 regional ureteric cancer MONDO:0006481 NCIT:C9356 NCIT:C8993 ureter carcinoma +MONDO:0001979 dumping syndrome MONDO:0002254 NCIT:C2994 NCIT:C28193 syndromic disease +MONDO:0001982 Niemann-Pick disease MONDO:0019255 NCIT:C61269 NCIT:C117254 sphingolipidosis +MONDO:0001985 partial arterial retinal occlusion MONDO:0006948 NCIT:C35192 NCIT:C34978 retinal artery occlusion MONDO:0001990 malignant cardiac peripheral nerve sheath neoplasm MONDO:0003354 NCIT:C5367 NCIT:C7723 heart sarcoma MONDO:0001990 malignant cardiac peripheral nerve sheath neoplasm MONDO:0017827 NCIT:C5367 NCIT:C3798 malignant peripheral nerve sheath tumor MONDO:0001991 malignant cardiac germ cell tumor MONDO:0001340 NCIT:C5371 NCIT:C3548 heart cancer @@ -281,6 +502,10 @@ MONDO:0001993 seminal vesicle adenocarcinoma MONDO:0004970 NCIT:C39906 NCIT:C285 MONDO:0001994 sphenoidal sinus cancer MONDO:0004047 NCIT:C3543 NCIT:C6792 sphenoidal sinus neoplasm MONDO:0001995 sphenoid sinus squamous cell carcinoma MONDO:0001994 NCIT:C6066 NCIT:C3543 sphenoidal sinus cancer MONDO:0001995 sphenoid sinus squamous cell carcinoma MONDO:0044705 NCIT:C6066 NCIT:C8193 paranasal sinus squamous cell carcinoma +MONDO:0002009 major depressive disorder MONDO:0002050 NCIT:C35094 NCIT:C2982 depressive disorder +MONDO:0002027 avoidant personality disorder MONDO:0002028 NCIT:C92636 NCIT:C34922 personality disorder +MONDO:0002028 personality disorder MONDO:0002025 NCIT:C34922 NCIT:C2893 psychiatric disorder +MONDO:0002030 chronic cervicitis MONDO:0002345 NCIT:C27057 NCIT:C26716 cervicitis MONDO:0002032 colon carcinoma MONDO:0021063 NCIT:C4910 NCIT:C9242 malignant colon neoplasm MONDO:0002032 colon carcinoma MONDO:0024331 NCIT:C4910 NCIT:C2955 colorectal carcinoma MONDO:0002033 cecum cancer MONDO:0005694 NCIT:C9329 NCIT:C4433 cecal neoplasm @@ -289,8 +514,15 @@ MONDO:0002034 cecum lymphoma MONDO:0002033 NCIT:C5515 NCIT:C9329 cecum cancer MONDO:0002034 cecum lymphoma MONDO:0002035 NCIT:C5515 NCIT:C4793 colon lymphoma MONDO:0002035 colon lymphoma MONDO:0021063 NCIT:C4793 NCIT:C9242 malignant colon neoplasm MONDO:0002035 colon lymphoma MONDO:0024656 NCIT:C4793 NCIT:C96498 colorectal lymphoma +MONDO:0002036 penile disorder MONDO:0003150 NCIT:C26846 NCIT:C27019 male reproductive system disorder MONDO:0002038 head and neck carcinoma MONDO:0004993 NCIT:C35850 NCIT:C2916 carcinoma MONDO:0002038 head and neck carcinoma MONDO:0005627 NCIT:C35850 NCIT:C4013 head and neck cancer +MONDO:0002039 cognitive disorder MONDO:0002025 NCIT:C92196 NCIT:C2893 psychiatric disorder +MONDO:0002041 fungal infectious disease MONDO:0005550 NCIT:C3245 NCIT:C26726 infectious disease +MONDO:0002045 communicating hydrocephalus MONDO:0001150 NCIT:C34501 NCIT:C3111 hydrocephalus +MONDO:0002048 thrombocytopenia due to immune destruction MONDO:0002049 NCIT:C3991 NCIT:C3408 thrombocytopenia +MONDO:0002050 depressive disorder MONDO:0005371 NCIT:C2982 NCIT:C92200 mood disorder +MONDO:0002052 lymphadenitis MONDO:0004928 NCIT:C26821 NCIT:C35346 lymph node disorder MONDO:0002055 benign eccrine breast spiradenoma MONDO:0000620 NCIT:C5193 NCIT:C4505 breast benign neoplasm MONDO:0002055 benign eccrine breast spiradenoma MONDO:0003448 NCIT:C5193 NCIT:C4170 benign spiradenoma MONDO:0002056 breast fibroadenoma MONDO:0021046 NCIT:C3744 NCIT:C40405 breast fibroepithelial neoplasm @@ -308,19 +540,26 @@ MONDO:0002065 benign breast adenomyoepithelioma MONDO:0002066 NCIT:C5144 NCIT:C6 MONDO:0002066 breast adenomyoepithelioma MONDO:0002483 NCIT:C6899 NCIT:C40389 breast myoepithelial tumor MONDO:0002071 supratentorial cancer MONDO:0001657 NCIT:C4964 NCIT:C3568 brain cancer MONDO:0002073 malignant pineal area germ cell neoplasm MONDO:0003249 NCIT:C6767 NCIT:C3573 pineal gland cancer +MONDO:0002074 Behcet syndrome arthropathy MONDO:0006816 NCIT:C35225 NCIT:C35760 arthropathy +MONDO:0002078 heart septal defect MONDO:0005453 NCIT:C84482 NCIT:C95834 congenital heart disease MONDO:0002082 endocrine gland neoplasm MONDO:0005151 NCIT:C3010 NCIT:C3009 endocrine system disorder +MONDO:0002083 Richter syndrome MONDO:0021058 NCIT:C35424 NCIT:C54705 neoplastic syndrome MONDO:0002086 clear cell acanthoma MONDO:0002093 NCIT:C97041 NCIT:C7419 acanthoma MONDO:0002087 peritoneum cancer MONDO:0006901 NCIT:C3538 NCIT:C3322 peritoneal neoplasm +MONDO:0002088 partial retinal vein occlusion MONDO:0006951 NCIT:C35341 NCIT:C34981 retinal vein occlusion +MONDO:0002089 retinal vascular occlusion MONDO:0002311 NCIT:C34980 NCIT:C35170 retinal vascular disorder MONDO:0002090 eccrine sweat gland neoplasm MONDO:0002381 NCIT:C6796 NCIT:C3398 sweat gland neoplasm MONDO:0002092 small intestine leiomyoma MONDO:0021501 NCIT:C7725 NCIT:C3600 benign neoplasm of small intestine MONDO:0002093 acanthoma MONDO:0024666 NCIT:C7419 NCIT:C7341 benign epithelial skin neoplasm MONDO:0002095 vascular cancer MONDO:0021080 NCIT:C8538 NCIT:C7387 blood vessel neoplasm MONDO:0002096 malignant conjunctival melanoma MONDO:0003454 NCIT:C4550 NCIT:C3564 conjunctival cancer MONDO:0002096 malignant conjunctival melanoma MONDO:0006325 NCIT:C4550 NCIT:C8562 ocular melanoma +MONDO:0002098 facial nerve disorder MONDO:0003569 NCIT:C27594 NCIT:C26733 cranial nerve neuropathy MONDO:0002100 cardiovascular cancer MONDO:0004992 NCIT:C114940 NCIT:C9305 cancer MONDO:0002100 cardiovascular cancer MONDO:0024757 NCIT:C114940 NCIT:C4784 cardiovascular neoplasm MONDO:0002101 facial nerve neoplasm MONDO:0002098 NCIT:C5827 NCIT:C27594 facial nerve disorder MONDO:0002101 facial nerve neoplasm MONDO:0002633 NCIT:C5827 NCIT:C2963 cranial nerve neoplasm +MONDO:0002103 factitious disorder MONDO:0002025 NCIT:C92198 NCIT:C2893 psychiatric disorder MONDO:0002108 thyroid cancer MONDO:0015074 NCIT:C7510 NCIT:C3414 thyroid tumor MONDO:0002109 pituitary cancer MONDO:0017611 NCIT:C4769 NCIT:C3330 pituitary tumor MONDO:0002110 adrenal rest tumor MONDO:0000383 NCIT:C2860 NCIT:C7617 benign reproductive system neoplasm @@ -334,13 +573,18 @@ MONDO:0002117 pancreas sarcoma MONDO:0009831 NCIT:C5715 NCIT:C9005 malignant pan MONDO:0002120 neuroendocrine carcinoma MONDO:0004993 NCIT:C3773 NCIT:C2916 carcinoma MONDO:0002120 neuroendocrine carcinoma MONDO:0019496 NCIT:C3773 NCIT:C3809 neuroendocrine neoplasm MONDO:0002120 neuroendocrine carcinoma MONDO:0021069 NCIT:C3773 NCIT:C3575 malignant endocrine neoplasm +MONDO:0002122 neuritis MONDO:0005244 NCIT:C116381 NCIT:C4731 peripheral neuropathy MONDO:0002129 bone cancer MONDO:0019060 NCIT:C4016 NCIT:C9343 bone neoplasm +MONDO:0002135 optic nerve disorder MONDO:0003569 NCIT:C79698 NCIT:C26733 cranial nerve neuropathy MONDO:0002140 vagina sarcoma MONDO:0001402 NCIT:C7737 NCIT:C7410 vaginal cancer MONDO:0002140 vagina sarcoma MONDO:0018078 NCIT:C7737 NCIT:C9306 soft tissue sarcoma MONDO:0002141 cutaneous undifferentiated pleomorphic sarcoma MONDO:0002142 NCIT:C5576 NCIT:C4247 undifferentiated pleomorphic sarcoma MONDO:0002141 cutaneous undifferentiated pleomorphic sarcoma MONDO:0006414 NCIT:C5576 NCIT:C5585 skin sarcoma MONDO:0002143 vaginal yolk sac tumor MONDO:0005744 NCIT:C6379 NCIT:C3011 yolk sac tumor MONDO:0002149 reproductive system cancer MONDO:0006054 NCIT:C36076 NCIT:C3674 reproductive system neoplasm +MONDO:0002153 telogen effluvium MONDO:0004907 NCIT:C112200 NCIT:C50575 alopecia +MONDO:0002154 trichomoniasis MONDO:0002428 NCIT:C35720 NCIT:C34953 protozoa infectious disease +MONDO:0002156 fallopian tube disorder MONDO:0002263 NCIT:C26771 NCIT:C27020 female reproductive system disorder MONDO:0002158 fallopian tube cancer MONDO:0001416 NCIT:C7480 NCIT:C4913 female reproductive organ cancer MONDO:0002158 fallopian tube cancer MONDO:0021092 NCIT:C7480 NCIT:C3032 fallopian tube neoplasm MONDO:0002159 fallopian tube leiomyosarcoma MONDO:0002158 NCIT:C40128 NCIT:C7480 fallopian tube cancer @@ -356,6 +600,7 @@ MONDO:0002168 rectum sarcoma MONDO:0006519 NCIT:C5548 NCIT:C7418 rectal cancer MONDO:0002169 rectum adenocarcinoma MONDO:0005008 NCIT:C9383 NCIT:C5105 colorectal adenocarcinoma MONDO:0002169 rectum adenocarcinoma MONDO:0044937 NCIT:C9383 NCIT:C9382 rectal carcinoma MONDO:0002178 placenta cancer MONDO:0021218 NCIT:C3555 NCIT:C4858 placenta neoplasm +MONDO:0002187 vulvar disease MONDO:0002263 NCIT:C27631 NCIT:C27020 female reproductive system disorder MONDO:0002188 vulvar nodular hidradenoma MONDO:0000643 NCIT:C40312 NCIT:C3611 vulvar benign neoplasm MONDO:0002188 vulvar nodular hidradenoma MONDO:0002189 NCIT:C40312 NCIT:C7568 nodular hidradenoma MONDO:0002189 nodular hidradenoma MONDO:0002805 NCIT:C7568 NCIT:C7563 hidradenoma @@ -378,6 +623,7 @@ MONDO:0002201 vulvar trichoepithelioma MONDO:0020593 NCIT:C40314 NCIT:C27132 tri MONDO:0002205 vulvar melanoma MONDO:0001528 NCIT:C40329 NCIT:C7502 vulva cancer MONDO:0002206 sweat gland cancer MONDO:0002381 NCIT:C4810 NCIT:C3398 sweat gland neoplasm MONDO:0002207 vulval Paget disease MONDO:0008177 NCIT:C4027 NCIT:C3302 extramammary Paget disease +MONDO:0002211 B cell deficiency MONDO:0021094 NCIT:C4799 NCIT:C3131 immunodeficiency disease MONDO:0002214 brain germinoma MONDO:0001657 NCIT:C6284 NCIT:C3568 brain cancer MONDO:0002216 brain sarcoma MONDO:0001657 NCIT:C5154 NCIT:C3568 brain cancer MONDO:0002216 brain sarcoma MONDO:0002217 NCIT:C5154 NCIT:C5153 central nervous system sarcoma @@ -398,10 +644,23 @@ MONDO:0002230 ovarian Wilms tumor MONDO:0008170 NCIT:C40443 NCIT:C7431 ovarian c MONDO:0002235 eyelid neoplasm MONDO:0003382 NCIT:C3031 NCIT:C26768 eyelid disorder MONDO:0002235 eyelid neoplasm MONDO:0021220 NCIT:C3031 NCIT:C3030 eye neoplasm MONDO:0002236 ocular cancer MONDO:0021220 NCIT:C4767 NCIT:C3030 eye neoplasm +MONDO:0002242 coagulation protein disease MONDO:0001531 NCIT:C27215 NCIT:C2902 blood coagulation disease +MONDO:0002247 factor X deficiency MONDO:0002242 NCIT:C131632 NCIT:C27215 coagulation protein disease +MONDO:0002250 basilar artery insufficiency MONDO:0002254 NCIT:C34413 NCIT:C28193 syndromic disease +MONDO:0002252 granulomatous hepatitis MONDO:0002251 NCIT:C27015 NCIT:C3095 hepatitis +MONDO:0002256 cervix disorder MONDO:0002654 NCIT:C40241 NCIT:C26907 uterine disorder +MONDO:0002259 gonadal disorder MONDO:0005039 NCIT:C26786 NCIT:C4875 reproductive system disorder +MONDO:0002263 female reproductive system disorder MONDO:0005039 NCIT:C27020 NCIT:C4875 reproductive system disorder +MONDO:0002270 viral gastritis MONDO:0004966 NCIT:C27184 NCIT:C26780 gastritis +MONDO:0002270 viral gastritis MONDO:0005108 NCIT:C27184 NCIT:C3439 viral infectious disease MONDO:0002271 colon adenocarcinoma MONDO:0002032 NCIT:C4349 NCIT:C4910 colon carcinoma MONDO:0002271 colon adenocarcinoma MONDO:0005008 NCIT:C4349 NCIT:C5105 colorectal adenocarcinoma +MONDO:0002275 generalized atherosclerosis MONDO:0005311 NCIT:C35767 NCIT:C35768 atherosclerosis +MONDO:0002277 arteriosclerosis disorder MONDO:0000473 NCIT:C34398 NCIT:C35317 arterial disorder MONDO:0002278 benign colon neoplasm MONDO:0005401 NCIT:C2894 NCIT:C2953 colonic neoplasm MONDO:0002278 benign colon neoplasm MONDO:0021444 NCIT:C2894 NCIT:C4610 benign neoplasm of large intestine +MONDO:0002281 macrocytic anemia MONDO:0002280 NCIT:C34381 NCIT:C2869 anemia +MONDO:0002289 iris disorder MONDO:0002661 NCIT:C34737 NCIT:C26908 uveal disorder MONDO:0002290 clitoris cancer MONDO:0001528 NCIT:C3557 NCIT:C7502 vulva cancer MONDO:0002291 cutaneous granular cell tumor MONDO:0006235 NCIT:C5617 NCIT:C3474 granular cell tumor MONDO:0002293 cutaneous ganglioneuroma MONDO:0005033 NCIT:C4481 NCIT:C3049 ganglioneuroma @@ -414,14 +673,31 @@ MONDO:0002299 glomangioma MONDO:0018327 NCIT:C4222 NCIT:C3060 glomus tumor MONDO:0002300 dermis tumor MONDO:0002531 NCIT:C4475 NCIT:C3372 skin neoplasm MONDO:0002301 frontal sinus squamous cell carcinoma MONDO:0001756 NCIT:C6067 NCIT:C3542 frontal sinus cancer MONDO:0002301 frontal sinus squamous cell carcinoma MONDO:0044705 NCIT:C6067 NCIT:C8193 paranasal sinus squamous cell carcinoma +MONDO:0002303 central retinal vein occlusion MONDO:0006951 NCIT:C118859 NCIT:C34981 retinal vein occlusion +MONDO:0002304 protein S deficiency MONDO:0002305 NCIT:C99026 NCIT:C84479 thrombophilia +MONDO:0002305 thrombophilia MONDO:0001531 NCIT:C84479 NCIT:C2902 blood coagulation disease +MONDO:0002308 giant papillary conjunctivitis MONDO:0002309 NCIT:C34507 NCIT:C35616 papillary conjunctivitis +MONDO:0002309 papillary conjunctivitis MONDO:0003799 NCIT:C35616 NCIT:C34504 conjunctivitis +MONDO:0002311 retinal vascular disorder MONDO:0005552 NCIT:C35170 NCIT:C35664 ocular vascular disorder +MONDO:0002313 vernal conjunctivitis MONDO:0002314 NCIT:C34508 NCIT:C35197 chronic conjunctivitis +MONDO:0002314 chronic conjunctivitis MONDO:0003799 NCIT:C35197 NCIT:C34504 conjunctivitis +MONDO:0002316 motor peripheral neuropathy MONDO:0005244 NCIT:C3500 NCIT:C119734 peripheral neuropathy MONDO:0002318 trachea leiomyoma MONDO:0001572 NCIT:C6049 NCIT:C3157 leiomyoma MONDO:0002318 trachea leiomyoma MONDO:0021517 NCIT:C6049 NCIT:C3602 benign neoplasm of trachea +MONDO:0002321 sensory peripheral neuropathy MONDO:0005244 NCIT:C3501 NCIT:C119734 peripheral neuropathy MONDO:0002323 cherry hemangioma MONDO:0002407 NCIT:C4390 NCIT:C7457 capillary hemangioma MONDO:0002323 cherry hemangioma MONDO:0003110 NCIT:C4390 NCIT:C4905 skin hemangioma MONDO:0002327 intracranial cavernous angioma MONDO:0002328 NCIT:C5432 NCIT:C3633 intracranial hemangioma +MONDO:0002329 testicular disorder MONDO:0003150 NCIT:C26890 NCIT:C27019 male reproductive system disorder +MONDO:0002333 splenic abscess MONDO:0005227 NCIT:C35347 NCIT:C26686 abscess +MONDO:0002335 chronic inflammatory demyelinating polyneuritis MONDO:0003334 NCIT:C84636 NCIT:C27062 demyelinating polyneuropathy MONDO:0002337 intra-abdominal hemangioma MONDO:0006500 NCIT:C3635 NCIT:C3085 hemangioma +MONDO:0002338 extratemporal epilepsy MONDO:0005027 NCIT:C7760 NCIT:C3020 epilepsy +MONDO:0002340 tactile epilepsy MONDO:0017768 NCIT:C4687 NCIT:C85041 reflex epilepsy +MONDO:0002341 granulomatous angiitis MONDO:0043494 NCIT:C34653 NCIT:C34399 arteritis MONDO:0002343 splenic hemangioma MONDO:0002337 NCIT:C8541 NCIT:C3635 intra-abdominal hemangioma MONDO:0002343 splenic hemangioma MONDO:0021500 NCIT:C8541 NCIT:C4902 benign neoplasm of spleen +MONDO:0002350 familial nephrotic syndrome MONDO:0005377 NCIT:C35337 NCIT:C34845 nephrotic syndrome MONDO:0002351 glottis cancer MONDO:0002352 NCIT:C3544 NCIT:C7484 larynx cancer MONDO:0002351 glottis cancer MONDO:0002353 NCIT:C3544 NCIT:C4425 glottis neoplasm MONDO:0002352 larynx cancer MONDO:0021071 NCIT:C7484 NCIT:C3156 laryngeal neoplasm @@ -429,6 +705,7 @@ MONDO:0002353 glottis neoplasm MONDO:0021071 NCIT:C4425 NCIT:C3156 laryngeal neo MONDO:0002354 benign laryngeal neoplasm MONDO:0021071 NCIT:C3601 NCIT:C3156 laryngeal neoplasm MONDO:0002355 glottis carcinoma MONDO:0002351 NCIT:C4923 NCIT:C3544 glottis cancer MONDO:0002355 glottis carcinoma MONDO:0002358 NCIT:C4923 NCIT:C4855 laryngeal carcinoma +MONDO:0002356 pancreas disorder MONDO:0004335 NCIT:C26842 NCIT:C2990 digestive system disorder MONDO:0002358 laryngeal carcinoma MONDO:0002352 NCIT:C4855 NCIT:C7484 larynx cancer MONDO:0002359 periosteal chondroma MONDO:0000631 NCIT:C4302 NCIT:C4880 bone benign neoplasm MONDO:0002359 periosteal chondroma MONDO:0002360 NCIT:C4302 NCIT:C53459 chondroma @@ -459,7 +736,6 @@ MONDO:0002387 liver angiosarcoma MONDO:0002405 NCIT:C4438 NCIT:C35442 hepatic va MONDO:0002395 renal adenoma MONDO:0002513 NCIT:C8383 NCIT:C4778 kidney benign neoplasm MONDO:0002395 renal adenoma MONDO:0004972 NCIT:C8383 NCIT:C2855 adenoma MONDO:0002396 nephrogenic adenofibroma MONDO:0021045 NCIT:C39812 NCIT:C3743 fibroepithelial neoplasm -MONDO:0002397 liver sarcoma MONDO:0002691 NCIT:C4437 NCIT:C34803 liver cancer MONDO:0002398 mucinous adenofibroma MONDO:0006071 NCIT:C8978 NCIT:C8984 adenofibroma MONDO:0002398 mucinous adenofibroma MONDO:0024338 NCIT:C8978 NCIT:C7070 mucinous neoplasm MONDO:0002399 tenosynovial giant cell tumor, localized type MONDO:0002522 NCIT:C6532 NCIT:C3402 tenosynovial giant cell tumor @@ -470,15 +746,21 @@ MONDO:0002401 malignant tenosynovial giant cell tumor MONDO:0002522 NCIT:C6535 N MONDO:0002402 malignant giant cell tumor MONDO:0004992 NCIT:C4090 NCIT:C9305 cancer MONDO:0002403 synovium cancer MONDO:0002528 NCIT:C6531 NCIT:C8964 synovium neoplasm MONDO:0002404 liver hemangioma MONDO:0002337 NCIT:C3869 NCIT:C3635 intra-abdominal hemangioma +MONDO:0002405 hepatic vascular disorder MONDO:0005154 NCIT:C35442 NCIT:C3196 liver disorder +MONDO:0002405 hepatic vascular disorder MONDO:0005385 NCIT:C35442 NCIT:C35117 vascular disorder MONDO:0002407 capillary hemangioma MONDO:0006500 NCIT:C7457 NCIT:C3085 hemangioma +MONDO:0002411 narcissistic personality disorder MONDO:0002028 NCIT:C92635 NCIT:C34922 personality disorder +MONDO:0002413 glycogen storage disease I MONDO:0002412 NCIT:C84733 NCIT:C61272 disorder of glycogen metabolism MONDO:0002414 gastric hemangioma MONDO:0002337 NCIT:C5481 NCIT:C3635 intra-abdominal hemangioma MONDO:0002416 ethmoid sinus squamous cell carcinoma MONDO:0001763 NCIT:C6065 NCIT:C3541 ethmoid sinus cancer MONDO:0002416 ethmoid sinus squamous cell carcinoma MONDO:0044705 NCIT:C6065 NCIT:C8193 paranasal sinus squamous cell carcinoma MONDO:0002418 ethmoid sinus adenocarcinoma MONDO:0001763 NCIT:C6237 NCIT:C3541 ethmoid sinus cancer +MONDO:0002419 transient tic disorder MONDO:0005395 NCIT:C116767 NCIT:C116757 movement disorder MONDO:0002424 rectosigmoid carcinoma MONDO:0002425 NCIT:C7421 NCIT:C7420 rectosigmoid junction cancer MONDO:0002425 rectosigmoid junction cancer MONDO:0002423 NCIT:C7420 NCIT:C4877 rectosigmoid junction neoplasm MONDO:0002426 lung sarcoma MONDO:0008903 NCIT:C4860 NCIT:C7377 lung cancer MONDO:0002426 lung sarcoma MONDO:0018078 NCIT:C4860 NCIT:C9306 soft tissue sarcoma +MONDO:0002428 protozoa infectious disease MONDO:0005135 NCIT:C34953 NCIT:C27864 parasitic infectious disease MONDO:0002432 malignant neoplasm of acoustic nerve MONDO:0002433 NCIT:C4539 NCIT:C3571 malignant cranial nerve neoplasm MONDO:0002432 malignant neoplasm of acoustic nerve MONDO:0021221 NCIT:C4539 NCIT:C5120 vestibulocochlear nerve neoplasm MONDO:0002433 malignant cranial nerve neoplasm MONDO:0002633 NCIT:C3571 NCIT:C2963 cranial nerve neoplasm @@ -486,6 +768,8 @@ MONDO:0002434 oculomotor nerve cancer MONDO:0002433 NCIT:C6995 NCIT:C3571 malign MONDO:0002434 oculomotor nerve cancer MONDO:0002435 NCIT:C6995 NCIT:C6994 oculomotor nerve neoplasm MONDO:0002435 oculomotor nerve neoplasm MONDO:0002633 NCIT:C6994 NCIT:C2963 cranial nerve neoplasm MONDO:0002435 oculomotor nerve neoplasm MONDO:0003546 NCIT:C6994 NCIT:C27598 third cranial nerve disorder +MONDO:0002442 long QT syndrome MONDO:0002254 NCIT:C34786 NCIT:C28193 syndromic disease +MONDO:0002444 melancholia MONDO:0002050 NCIT:C34812 NCIT:C2982 depressive disorder MONDO:0002447 endometrial carcinoma MONDO:0011962 NCIT:C7558 NCIT:C27815 endometrial cancer MONDO:0002448 laryngeal sarcoma MONDO:0002352 NCIT:C6020 NCIT:C7484 larynx cancer MONDO:0002450 prostatic adenoma MONDO:0004972 NCIT:C4795 NCIT:C2855 adenoma @@ -497,10 +781,15 @@ MONDO:0002451 benign prostate phyllodes tumor MONDO:0037002 NCIT:C5532 NCIT:C427 MONDO:0002452 prostate leiomyoma MONDO:0001572 NCIT:C5544 NCIT:C3157 leiomyoma MONDO:0002452 prostate leiomyoma MONDO:0021510 NCIT:C5544 NCIT:C3613 benign neoplasm of prostate MONDO:0002455 exocervical carcinoma MONDO:0005131 NCIT:C7453 NCIT:C9039 cervical carcinoma +MONDO:0002457 Treacher-Collins syndrome MONDO:0002254 NCIT:C75018 NCIT:C28193 syndromic disease +MONDO:0002459 type IV hypersensitivity disease MONDO:0000605 NCIT:C3115 NCIT:C3114 hypersensitivity reaction disease MONDO:0002460 lacrimal system cancer MONDO:0001854 NCIT:C5102 NCIT:C26809 lacrimal apparatus disorder +MONDO:0002461 membranoproliferative glomerulonephritis MONDO:0002462 NCIT:C34644 NCIT:C26784 glomerulonephritis +MONDO:0002462 glomerulonephritis MONDO:0001166 NCIT:C26784 NCIT:C26833 nephritis MONDO:0002463 lacrimal gland carcinoma MONDO:0002464 NCIT:C6129 NCIT:C3563 lacrimal gland cancer MONDO:0002464 lacrimal gland cancer MONDO:0021222 NCIT:C3563 NCIT:C4360 lacrimal gland neoplasm MONDO:0002466 eye carcinoma MONDO:0002236 NCIT:C6079 NCIT:C4767 ocular cancer +MONDO:0002467 inner ear disorder MONDO:0021205 NCIT:C27166 NCIT:C26757 disorder of ear MONDO:0002469 lacrimal gland carcinoma ex pleomorphic adenoma MONDO:0002463 NCIT:C6804 NCIT:C6129 lacrimal gland carcinoma MONDO:0002469 lacrimal gland carcinoma ex pleomorphic adenoma MONDO:0002472 NCIT:C6804 NCIT:C4397 carcinoma ex pleomorphic adenoma MONDO:0002472 carcinoma ex pleomorphic adenoma MONDO:0005853 NCIT:C4397 NCIT:C3729 malignant mixed neoplasm @@ -522,8 +811,10 @@ MONDO:0002489 malignant breast phyllodes tumor MONDO:0021047 NCIT:C4504 NCIT:C75 MONDO:0002489 malignant breast phyllodes tumor MONDO:0037003 NCIT:C4504 NCIT:C4275 malignant phyllodes tumor MONDO:0002490 breast sarcoma MONDO:0007254 NCIT:C4670 NCIT:C9335 breast cancer MONDO:0002490 breast sarcoma MONDO:0018078 NCIT:C4670 NCIT:C9306 soft tissue sarcoma +MONDO:0002492 acute kidney failure MONDO:0001106 NCIT:C26808 NCIT:C4376 kidney failure MONDO:0002493 prostatic acinar adenocarcinoma MONDO:0004965 NCIT:C5596 NCIT:C3768 acinar cell carcinoma MONDO:0002493 prostatic acinar adenocarcinoma MONDO:0005082 NCIT:C5596 NCIT:C2919 prostate adenocarcinoma +MONDO:0002494 substance-related disorder MONDO:0002025 NCIT:C92203 NCIT:C2893 psychiatric disorder MONDO:0002495 colon signet ring cell adenocarcinoma MONDO:0002271 NCIT:C7967 NCIT:C4349 colon adenocarcinoma MONDO:0002495 colon signet ring cell adenocarcinoma MONDO:0044336 NCIT:C7967 NCIT:C43586 colorectal signet ring cell carcinoma MONDO:0002496 submucosal invasive colon adenocarcinoma MONDO:0002271 NCIT:C38760 NCIT:C4349 colon adenocarcinoma @@ -531,18 +822,21 @@ MONDO:0002496 submucosal invasive colon adenocarcinoma MONDO:0040677 NCIT:C38760 MONDO:0002501 brain glioblastoma MONDO:0018177 NCIT:C4642 NCIT:C3058 glioblastoma MONDO:0002503 adult astrocytic tumor MONDO:0021636 NCIT:C7049 NCIT:C6958 astrocytic tumor MONDO:0002505 childhood astrocytic tumor MONDO:0021636 NCIT:C9022 NCIT:C6958 astrocytic tumor +MONDO:0002509 non-specific granulomatous orchitis MONDO:0006882 NCIT:C27162 NCIT:C97145 orchitis MONDO:0002512 papillary adenocarcinoma MONDO:0004970 NCIT:C2853 NCIT:C2852 adenocarcinoma MONDO:0002512 papillary adenocarcinoma MONDO:0006509 NCIT:C2853 NCIT:C2927 papillary carcinoma MONDO:0002513 kidney benign neoplasm MONDO:0004180 NCIT:C4778 NCIT:C4893 benign urinary system neoplasm MONDO:0002513 kidney benign neoplasm MONDO:0021163 NCIT:C4778 NCIT:C3150 kidney neoplasm MONDO:0002514 hepatobiliary neoplasm MONDO:0002515 NCIT:C8614 NCIT:C3959 hepatobiliary disorder MONDO:0002514 hepatobiliary neoplasm MONDO:0021223 NCIT:C8614 NCIT:C3052 digestive system neoplasm +MONDO:0002515 hepatobiliary disorder MONDO:0004335 NCIT:C3959 NCIT:C2990 digestive system disorder MONDO:0002516 digestive system cancer MONDO:0004992 NCIT:C4890 NCIT:C9305 cancer MONDO:0002516 digestive system cancer MONDO:0021223 NCIT:C4890 NCIT:C3052 digestive system neoplasm MONDO:0002518 gallbladder papillary neoplasm MONDO:0021096 NCIT:C7130 NCIT:C8429 papillary epithelial neoplasm MONDO:0002518 gallbladder papillary neoplasm MONDO:0021253 NCIT:C7130 NCIT:C3048 gallbladder neoplasm MONDO:0002522 tenosynovial giant cell tumor MONDO:0002171 NCIT:C3402 NCIT:C3055 giant cell tumor MONDO:0002522 tenosynovial giant cell tumor MONDO:0002528 NCIT:C3402 NCIT:C8964 synovium neoplasm +MONDO:0002525 inherited lipid metabolism disorder MONDO:0019052 NCIT:C97092 NCIT:C34816 inborn errors of metabolism MONDO:0002528 synovium neoplasm MONDO:0006424 NCIT:C8964 NCIT:C3377 soft tissue neoplasm MONDO:0002529 skin squamous cell carcinoma MONDO:0002656 NCIT:C4819 NCIT:C4914 skin carcinoma MONDO:0002529 skin squamous cell carcinoma MONDO:0005096 NCIT:C4819 NCIT:C2929 squamous cell carcinoma @@ -560,6 +854,7 @@ MONDO:0002541 spinal cord oligodendroglioma MONDO:0002542 NCIT:C4535 NCIT:C4534 MONDO:0002541 spinal cord oligodendroglioma MONDO:0016695 NCIT:C4535 NCIT:C3288 oligodendroglioma MONDO:0002543 adult oligodendroglioma MONDO:0016695 NCIT:C4014 NCIT:C3288 oligodendroglioma MONDO:0002544 brain oligodendroglioma MONDO:0016695 NCIT:C9377 NCIT:C3288 oligodendroglioma +MONDO:0002545 spinal cord disorder MONDO:0002602 NCIT:C97110 NCIT:C2934 central nervous system disorder MONDO:0002546 schwannoma MONDO:0002547 NCIT:C3269 NCIT:C4972 nerve sheath neoplasm MONDO:0002548 cellular schwannoma MONDO:0002546 NCIT:C4724 NCIT:C3269 schwannoma MONDO:0002549 schwannoma of twelfth cranial nerve MONDO:0002546 NCIT:C5434 NCIT:C3269 schwannoma @@ -571,11 +866,13 @@ MONDO:0002555 trigeminal schwannoma MONDO:0001420 NCIT:C4655 NCIT:C5122 trigemin MONDO:0002555 trigeminal schwannoma MONDO:0002546 NCIT:C4655 NCIT:C3269 schwannoma MONDO:0002556 microcystic/reticular schwannoma MONDO:0002546 NCIT:C5321 NCIT:C3269 schwannoma MONDO:0002559 plexiform schwannoma MONDO:0002546 NCIT:C6969 NCIT:C3269 schwannoma +MONDO:0002561 lysosomal storage disease MONDO:0019052 NCIT:C61250 NCIT:C34816 inborn errors of metabolism MONDO:0002563 jejunal somatostatinoma MONDO:0015064 NCIT:C5787 NCIT:C135090 jejunal neuroendocrine tumor, well differentiated, low or intermediate grade MONDO:0002564 jejunal neoplasm MONDO:0004251 NCIT:C8401 NCIT:C4432 small intestine neoplasm MONDO:0002571 primary central nervous system lymphoma MONDO:0002714 NCIT:C9301 NCIT:C4627 central nervous system cancer MONDO:0002571 primary central nervous system lymphoma MONDO:0003641 NCIT:C9301 NCIT:C5503 central nervous system hematopoietic neoplasm MONDO:0002571 primary central nervous system lymphoma MONDO:0017207 NCIT:C9301 NCIT:C7185 primary organ-specific lymphoma +MONDO:0002572 aspiration pneumonitis MONDO:0043905 NCIT:C34932 NCIT:C113159 pneumonitis MONDO:0002574 prostate embryonal rhabdomyosarcoma MONDO:0006389 NCIT:C5525 NCIT:C5522 prostate rhabdomyosarcoma MONDO:0002574 prostate embryonal rhabdomyosarcoma MONDO:0009993 NCIT:C5525 NCIT:C8971 embryonal rhabdomyosarcoma MONDO:0002576 embryonal extrahepatic bile duct rhabdomyosarcoma MONDO:0002577 NCIT:C5847 NCIT:C5860 extrahepatic bile duct rhabdomyosarcoma @@ -588,6 +885,7 @@ MONDO:0002580 orbit rhabdomyosarcoma MONDO:0004943 NCIT:C4543 NCIT:C6095 orbit s MONDO:0002580 orbit rhabdomyosarcoma MONDO:0005212 NCIT:C4543 NCIT:C3359 rhabdomyosarcoma MONDO:0002583 mucinous ovarian cystadenoma MONDO:0005183 NCIT:C4512 NCIT:C4060 ovarian cystadenoma MONDO:0002583 mucinous ovarian cystadenoma MONDO:0006859 NCIT:C4512 NCIT:C2973 mucinous cystadenoma +MONDO:0002585 breast fibrocystic change, proliferative type MONDO:0005219 NCIT:C6940 NCIT:C3039 breast fibrocystic disease MONDO:0002586 thymus cancer MONDO:0005197 NCIT:C4962 NCIT:C3412 thymus neoplasm MONDO:0002587 encapsulated thymoma MONDO:0006456 NCIT:C7386 NCIT:C3411 thymoma MONDO:0002588 thymoma type A MONDO:0006456 NCIT:C6454 NCIT:C3411 thymoma @@ -595,10 +893,12 @@ MONDO:0002597 notochordal tumor MONDO:0005564 NCIT:C7063 NCIT:C3264 embryonal ne MONDO:0002597 notochordal tumor MONDO:0019060 NCIT:C7063 NCIT:C9343 bone neoplasm MONDO:0002599 teratocarcinoma MONDO:0015864 NCIT:C3756 NCIT:C4290 mixed germ cell tumor MONDO:0002601 teratoma MONDO:0021656 NCIT:C3403 NCIT:C121619 nongerminomatous germ cell tumor +MONDO:0002602 central nervous system disorder MONDO:0005071 NCIT:C2934 NCIT:C26835 nervous system disorder MONDO:0002603 angiomyolipoma MONDO:0006359 NCIT:C3734 NCIT:C38150 neoplasm with perivascular epithelioid cell differentiation MONDO:0002604 pericytic neoplasm MONDO:0002616 NCIT:C6528 NCIT:C7059 mesenchymal cell neoplasm MONDO:0002605 hepatic angiomyolipoma MONDO:0002603 NCIT:C27485 NCIT:C3734 angiomyolipoma MONDO:0002606 epithelioid type angiomyolipoma MONDO:0002603 NCIT:C38151 NCIT:C3734 angiomyolipoma +MONDO:0002613 histrionic personality disorder MONDO:0002028 NCIT:C92634 NCIT:C34922 personality disorder MONDO:0002617 bone angiosarcoma MONDO:0016982 NCIT:C6479 NCIT:C3088 angiosarcoma MONDO:0002617 bone angiosarcoma MONDO:0021054 NCIT:C6479 NCIT:C9312 bone sarcoma MONDO:0002617 bone angiosarcoma MONDO:0024499 NCIT:C6479 NCIT:C6478 vascular bone neoplasm @@ -608,6 +908,7 @@ MONDO:0002619 bone fibrosarcoma MONDO:0021054 NCIT:C6604 NCIT:C9312 bone sarcoma MONDO:0002620 localized osteosarcoma MONDO:0009807 NCIT:C7780 NCIT:C9145 osteosarcoma MONDO:0002621 extraosseous osteosarcoma MONDO:0009807 NCIT:C8810 NCIT:C9145 osteosarcoma MONDO:0002621 extraosseous osteosarcoma MONDO:0018078 NCIT:C8810 NCIT:C9306 soft tissue sarcoma +MONDO:0002623 pediatric osteosarcoma MONDO:0006517 NCIT:C6585 NCIT:C4005 childhood malignant neoplasm MONDO:0002623 pediatric osteosarcoma MONDO:0009807 NCIT:C6585 NCIT:C9145 osteosarcoma MONDO:0002624 bone leiomyosarcoma MONDO:0005058 NCIT:C7154 NCIT:C3158 leiomyosarcoma MONDO:0002624 bone leiomyosarcoma MONDO:0021054 NCIT:C7154 NCIT:C9312 bone sarcoma @@ -624,12 +925,15 @@ MONDO:0002632 metachronous osteosarcoma of the bone MONDO:0002629 NCIT:C38157 NC MONDO:0002633 cranial nerve neoplasm MONDO:0003569 NCIT:C2963 NCIT:C26733 cranial nerve neuropathy MONDO:0002634 liposarcoma of bone MONDO:0005060 NCIT:C7598 NCIT:C3194 liposarcoma MONDO:0002634 liposarcoma of bone MONDO:0021054 NCIT:C7598 NCIT:C9312 bone sarcoma +MONDO:0002636 accessory nerve disorder MONDO:0003569 NCIT:C26953 NCIT:C26733 cranial nerve neuropathy MONDO:0002638 glossopharyngeal nerve neoplasm MONDO:0002633 NCIT:C5828 NCIT:C2963 cranial nerve neoplasm MONDO:0002638 glossopharyngeal nerve neoplasm MONDO:0002639 NCIT:C5828 NCIT:C27211 glossopharyngeal nerve disorder +MONDO:0002639 glossopharyngeal nerve disorder MONDO:0003569 NCIT:C27211 NCIT:C26733 cranial nerve neuropathy MONDO:0002640 optic nerve neoplasm MONDO:0002135 NCIT:C4801 NCIT:C79698 optic nerve disorder MONDO:0002640 optic nerve neoplasm MONDO:0002633 NCIT:C4801 NCIT:C2963 cranial nerve neoplasm MONDO:0002642 trochlear nerve neoplasm MONDO:0002633 NCIT:C5825 NCIT:C2963 cranial nerve neoplasm MONDO:0002642 trochlear nerve neoplasm MONDO:0007002 NCIT:C5825 NCIT:C78395 trochlear nerve disorder +MONDO:0002644 idiopathic granulomatous myositis MONDO:0021167 NCIT:C27575 NCIT:C27578 myositis disease MONDO:0002648 mammary Paget disease MONDO:0004988 NCIT:C47857 NCIT:C5214 breast adenocarcinoma MONDO:0002648 mammary Paget disease MONDO:0021165 NCIT:C47857 NCIT:C7073 Paget disease MONDO:0002649 scrotum Paget disease MONDO:0002650 NCIT:C7728 NCIT:C6389 scrotal carcinoma @@ -639,6 +943,7 @@ MONDO:0002651 anal Paget disease MONDO:0008177 NCIT:C5598 NCIT:C3302 extramammar MONDO:0002652 anus adenocarcinoma MONDO:0003199 NCIT:C5600 NCIT:C9291 anal carcinoma MONDO:0002653 Paget disease of the penis MONDO:0006360 NCIT:C27817 NCIT:C9061 penile carcinoma MONDO:0002653 Paget disease of the penis MONDO:0008177 NCIT:C27817 NCIT:C3302 extramammary Paget disease +MONDO:0002654 uterine disorder MONDO:0002263 NCIT:C26907 NCIT:C27020 female reproductive system disorder MONDO:0002656 skin carcinoma MONDO:0002898 NCIT:C4914 NCIT:C2920 skin cancer MONDO:0002656 skin carcinoma MONDO:0004993 NCIT:C4914 NCIT:C2916 carcinoma MONDO:0002656 skin carcinoma MONDO:0021634 NCIT:C4914 NCIT:C7342 epithelial skin neoplasm @@ -646,6 +951,7 @@ MONDO:0002658 iris cancer MONDO:0002659 NCIT:C4554 NCIT:C6105 uveal cancer MONDO:0002658 iris cancer MONDO:0021224 NCIT:C4554 NCIT:C3142 iris neoplasm MONDO:0002659 uveal cancer MONDO:0002236 NCIT:C6105 NCIT:C4767 ocular cancer MONDO:0002659 uveal cancer MONDO:0021225 NCIT:C6105 NCIT:C3436 uvea neoplasm +MONDO:0002661 uveal disorder MONDO:0005328 NCIT:C26908 NCIT:C26767 eye disorder MONDO:0002664 extrahepatic bile duct signet ring cell carcinoma MONDO:0002665 NCIT:C5776 NCIT:C7975 extrahepatic bile duct adenocarcinoma MONDO:0002664 extrahepatic bile duct signet ring cell carcinoma MONDO:0005092 NCIT:C5776 NCIT:C3774 signet ring cell carcinoma MONDO:0002665 extrahepatic bile duct adenocarcinoma MONDO:0003090 NCIT:C7975 NCIT:C3860 extrahepatic bile duct carcinoma @@ -662,12 +968,15 @@ MONDO:0002672 acinar prostate adenocarcinoma, signet ring variant MONDO:0002493 MONDO:0002672 acinar prostate adenocarcinoma, signet ring variant MONDO:0005092 NCIT:C5535 NCIT:C3774 signet ring cell carcinoma MONDO:0002677 conventional fibrosarcoma MONDO:0005164 NCIT:C9429 NCIT:C3043 fibrosarcoma MONDO:0002678 pediatric fibrosarcoma MONDO:0005164 NCIT:C8088 NCIT:C3043 fibrosarcoma +MONDO:0002678 pediatric fibrosarcoma MONDO:0006517 NCIT:C8088 NCIT:C4005 childhood malignant neoplasm MONDO:0002681 choroid plexus cancer MONDO:0016717 NCIT:C4533 NCIT:C3473 choroid plexus neoplasm MONDO:0002683 adult choroid plexus neoplasm MONDO:0016717 NCIT:C8568 NCIT:C3473 choroid plexus neoplasm MONDO:0002684 atypical choroid plexus papilloma MONDO:0016717 NCIT:C53686 NCIT:C3473 choroid plexus neoplasm MONDO:0002685 childhood choroid plexus carcinoma MONDO:0002071 NCIT:C124292 NCIT:C4964 supratentorial cancer MONDO:0002685 childhood choroid plexus carcinoma MONDO:0016718 NCIT:C124292 NCIT:C4715 choroid plexus carcinoma MONDO:0002685 childhood choroid plexus carcinoma MONDO:0024744 NCIT:C124292 NCIT:C42080 childhood choroid plexus neoplasm +MONDO:0002687 superior mesenteric artery syndrome MONDO:0002254 NCIT:C85175 NCIT:C28193 syndromic disease +MONDO:0002691 liver cancer MONDO:0024477 NCIT:C34803 NCIT:C7103 liver and intrahepatic bile duct neoplasm MONDO:0002696 Sertoli cell tumor MONDO:0006055 NCIT:C39976 NCIT:C3794 sex cord-stromal tumor MONDO:0002697 ovarian gonadoblastoma MONDO:0010768 NCIT:C39985 NCIT:C3754 gonadoblastoma MONDO:0002698 testicular gonadoblastoma MONDO:0010768 NCIT:C39911 NCIT:C3754 gonadoblastoma @@ -680,6 +989,7 @@ MONDO:0002703 appendix mucinous cystadenocarcinoma MONDO:0005858 NCIT:C5511 NCIT MONDO:0002703 appendix mucinous cystadenocarcinoma MONDO:0018330 NCIT:C5511 NCIT:C43558 mucinous adenocarcinoma of the appendix MONDO:0002705 breast mucinous cystadenocarcinoma MONDO:0004988 NCIT:C40354 NCIT:C5214 breast adenocarcinoma MONDO:0002705 breast mucinous cystadenocarcinoma MONDO:0005858 NCIT:C40354 NCIT:C3776 mucinous cystadenocarcinoma +MONDO:0002706 cervix endometriosis MONDO:0005133 NCIT:C27623 NCIT:C3014 endometriosis MONDO:0002707 breast mucinous carcinoma MONDO:0004957 NCIT:C9131 NCIT:C26712 mucinous adenocarcinoma MONDO:0002710 infiltrating angiolipoma MONDO:0006085 NCIT:C7449 NCIT:C3733 angiolipoma MONDO:0002712 epidural spinal canal angiolipoma MONDO:0002713 NCIT:C5424 NCIT:C3019 epidural spinal canal neoplasm @@ -689,14 +999,17 @@ MONDO:0002715 uterine cancer MONDO:0001416 NCIT:C3552 NCIT:C4913 female reproduc MONDO:0002715 uterine cancer MONDO:0021353 NCIT:C3552 NCIT:C3435 tumor of uterus MONDO:0002716 childhood spinal cord tumor MONDO:0021234 NCIT:C9234 NCIT:C3381 spinal cord neoplasm MONDO:0002717 spinal cord intramedullary teratoma MONDO:0002718 NCIT:C5428 NCIT:C5441 central nervous system teratoma +MONDO:0002718 central nervous system teratoma MONDO:0002601 NCIT:C5441 NCIT:C3403 teratoma MONDO:0002718 central nervous system teratoma MONDO:0020574 NCIT:C5441 NCIT:C100093 central nervous system nongerminomatous germ cell tumor MONDO:0002719 conus medullaris neoplasm MONDO:0021234 NCIT:C5443 NCIT:C3381 spinal cord neoplasm MONDO:0002720 sella turcica neoplasm MONDO:0002785 NCIT:C4944 NCIT:C4676 skull base neoplasm MONDO:0002722 olfactory nerve neoplasm MONDO:0002633 NCIT:C5121 NCIT:C2963 cranial nerve neoplasm MONDO:0002722 olfactory nerve neoplasm MONDO:0002727 NCIT:C5121 NCIT:C27210 olfactory nerve disorder MONDO:0002724 mast cell neoplasm MONDO:0005170 NCIT:C9295 NCIT:C9290 myeloid neoplasm +MONDO:0002727 olfactory nerve disorder MONDO:0003569 NCIT:C27210 NCIT:C26733 cranial nerve neuropathy MONDO:0002728 rhabdoid tumor MONDO:0005564 NCIT:C3808 NCIT:C3264 embryonal neoplasm MONDO:0002729 rhabdoid tumor of the kidney MONDO:0002728 NCIT:C8715 NCIT:C3808 rhabdoid tumor +MONDO:0002730 childhood kidney neoplasm MONDO:0021079 NCIT:C6563 NCIT:C6283 childhood neoplasm MONDO:0002730 childhood kidney neoplasm MONDO:0021163 NCIT:C6563 NCIT:C3150 kidney neoplasm MONDO:0002731 cerebral hemisphere cancer MONDO:0002071 NCIT:C4577 NCIT:C4964 supratentorial cancer MONDO:0002731 cerebral hemisphere cancer MONDO:0021374 NCIT:C4577 NCIT:C4874 neoplasm of cerebral hemisphere @@ -721,6 +1034,7 @@ MONDO:0002747 endometrial mucinous adenocarcinoma MONDO:0004957 NCIT:C40144 NCIT MONDO:0002748 rectum mucinous adenocarcinoma MONDO:0002169 NCIT:C7973 NCIT:C9383 rectum adenocarcinoma MONDO:0002749 extracranial neuroblastoma MONDO:0005072 NCIT:C5437 NCIT:C3270 neuroblastoma MONDO:0002750 bladder colloid adenocarcinoma MONDO:0002751 NCIT:C39837 NCIT:C4032 bladder adenocarcinoma +MONDO:0002751 bladder adenocarcinoma MONDO:0004970 NCIT:C4032 NCIT:C2852 adenocarcinoma MONDO:0002751 bladder adenocarcinoma MONDO:0004986 NCIT:C4032 NCIT:C4912 urinary bladder carcinoma MONDO:0002752 ovarian adenocarcinoma MONDO:0004970 NCIT:C7700 NCIT:C2852 adenocarcinoma MONDO:0002752 ovarian adenocarcinoma MONDO:0005140 NCIT:C7700 NCIT:C4908 ovarian carcinoma @@ -730,6 +1044,7 @@ MONDO:0002758 vulva verrucous carcinoma MONDO:0024609 NCIT:C6383 NCIT:C4052 vulv MONDO:0002759 bladder verrucous carcinoma MONDO:0002760 NCIT:C39832 NCIT:C4031 bladder squamous cell carcinoma MONDO:0002759 bladder verrucous carcinoma MONDO:0006006 NCIT:C39832 NCIT:C3781 verrucous carcinoma MONDO:0002760 bladder squamous cell carcinoma MONDO:0004986 NCIT:C4031 NCIT:C4912 urinary bladder carcinoma +MONDO:0002760 bladder squamous cell carcinoma MONDO:0005096 NCIT:C4031 NCIT:C2929 squamous cell carcinoma MONDO:0002761 cervical verrucous carcinoma MONDO:0006006 NCIT:C40190 NCIT:C3781 verrucous carcinoma MONDO:0002761 cervical verrucous carcinoma MONDO:0006143 NCIT:C40190 NCIT:C4028 cervical squamous cell carcinoma MONDO:0002762 esophagus verrucous carcinoma MONDO:0005580 NCIT:C27420 NCIT:C4024 esophageal squamous cell carcinoma @@ -741,10 +1056,12 @@ MONDO:0002764 urethra squamous cell carcinoma MONDO:0021327 NCIT:C6165 NCIT:C910 MONDO:0002766 larynx verrucous carcinoma MONDO:0005595 NCIT:C8188 NCIT:C4044 laryngeal squamous cell carcinoma MONDO:0002766 larynx verrucous carcinoma MONDO:0006006 NCIT:C8188 NCIT:C3781 verrucous carcinoma MONDO:0002772 intraventricular meningioma MONDO:0002682 NCIT:C5273 NCIT:C2937 cerebral ventricle cancer +MONDO:0002776 external ear disorder MONDO:0021205 NCIT:C26972 NCIT:C26757 disorder of ear MONDO:0002778 epidural spinal canal meningioma MONDO:0001279 NCIT:C5310 NCIT:C5134 intraspinal meningioma MONDO:0002779 central nervous system chondroma MONDO:0006423 NCIT:C7001 NCIT:C9482 soft tissue chondroma MONDO:0002781 glossopharyngeal nerve paralysis MONDO:0002639 NCIT:C27335 NCIT:C27211 glossopharyngeal nerve disorder MONDO:0002781 glossopharyngeal nerve paralysis MONDO:0002782 NCIT:C27335 NCIT:C26941 cranial nerve palsy +MONDO:0002782 cranial nerve palsy MONDO:0003569 NCIT:C26941 NCIT:C26733 cranial nerve neuropathy MONDO:0002785 skull base neoplasm MONDO:0024653 NCIT:C4676 NCIT:C3375 skull neoplasm MONDO:0002786 diencephalic cancer MONDO:0002071 NCIT:C5126 NCIT:C4964 supratentorial cancer MONDO:0002787 adamantinous craniopharyngioma MONDO:0018907 NCIT:C4726 NCIT:C2964 craniopharyngioma @@ -758,12 +1075,14 @@ MONDO:0002796 melanotic medulloblastoma MONDO:0007959 NCIT:C9497 NCIT:C3222 medu MONDO:0002797 childhood medulloblastoma MONDO:0003263 NCIT:C3997 NCIT:C5970 childhood cerebellar neoplasm MONDO:0002797 childhood medulloblastoma MONDO:0007959 NCIT:C3997 NCIT:C3222 medulloblastoma MONDO:0002798 childhood central nervous system primitive neuroectodermal neoplasm MONDO:0000640 NCIT:C5961 NCIT:C5398 central nervous system primitive neuroectodermal neoplasm +MONDO:0002800 thrombophlebitis MONDO:0004625 NCIT:C3410 NCIT:C38003 phlebitis MONDO:0002805 hidradenoma MONDO:0021110 NCIT:C7563 NCIT:C7560 sweat gland adenoma MONDO:0002806 bronchogenic carcinoma MONDO:0005138 NCIT:C35875 NCIT:C4878 lung carcinoma MONDO:0002808 pancreatic serous cystadenoma MONDO:0002809 NCIT:C5712 NCIT:C4374 pancreatic cystadenoma MONDO:0002808 pancreatic serous cystadenoma MONDO:0005177 NCIT:C5712 NCIT:C3783 serous cystadenoma MONDO:0002809 pancreatic cystadenoma MONDO:0002369 NCIT:C4374 NCIT:C2972 cystadenoma MONDO:0002810 pancreatic serous cystic neoplasm MONDO:0021076 NCIT:C41248 NCIT:C4445 pancreatic exocrine neoplasm +MONDO:0002815 acute myocarditis MONDO:0004496 NCIT:C35206 NCIT:C34831 myocarditis MONDO:0002817 adrenal gland cancer MONDO:0005941 NCIT:C9338 NCIT:C3537 retroperitoneal cancer MONDO:0002817 adrenal gland cancer MONDO:0021227 NCIT:C9338 NCIT:C2859 adrenal gland neoplasm MONDO:0002822 trabecular adenocarcinoma MONDO:0004970 NCIT:C4068 NCIT:C2852 adenocarcinoma @@ -781,6 +1100,14 @@ MONDO:0002836 urethra transitional cell carcinoma MONDO:0021327 NCIT:C6166 NCIT: MONDO:0002836 urethra transitional cell carcinoma MONDO:0040679 NCIT:C6166 NCIT:C4030 urothelial carcinoma MONDO:0002837 sarcomatoid transitional cell carcinoma MONDO:0006406 NCIT:C4120 NCIT:C27004 sarcomatoid carcinoma MONDO:0002837 sarcomatoid transitional cell carcinoma MONDO:0006474 NCIT:C4120 NCIT:C2930 transitional cell carcinoma +MONDO:0002839 leather-bottle stomach MONDO:0045054 NCIT:C3190 NCIT:C8278 cancer-related condition +MONDO:0002840 eosinophilic gastritis MONDO:0004966 NCIT:C27052 NCIT:C26780 gastritis +MONDO:0002840 eosinophilic gastritis MONDO:0016129 NCIT:C27052 NCIT:C35330 eosinophilic gastroenteritis +MONDO:0002842 bacterial gastritis MONDO:0004966 NCIT:C27340 NCIT:C26780 gastritis +MONDO:0002843 fungal gastritis MONDO:0004966 NCIT:C27342 NCIT:C26780 gastritis +MONDO:0002844 lymphocytic gastritis MONDO:0004966 NCIT:C27051 NCIT:C26780 gastritis +MONDO:0002845 necrotizing gastritis MONDO:0004966 NCIT:C27329 NCIT:C26780 gastritis +MONDO:0002846 granulomatous gastritis MONDO:0004966 NCIT:C27348 NCIT:C26780 gastritis MONDO:0002847 skeletal muscle cancer MONDO:0002848 NCIT:C6516 NCIT:C6514 skeletal muscle neoplasm MONDO:0002847 skeletal muscle cancer MONDO:0005864 NCIT:C6516 NCIT:C4883 muscle cancer MONDO:0002849 liver rhabdomyosarcoma MONDO:0002397 NCIT:C5834 NCIT:C4437 liver sarcoma @@ -809,7 +1136,9 @@ MONDO:0002865 anus sarcoma MONDO:0001879 NCIT:C5611 NCIT:C7379 anus cancer MONDO:0002867 pancreatic cystadenocarcinoma MONDO:0005596 NCIT:C3874 NCIT:C2971 cystadenocarcinoma MONDO:0002867 pancreatic cystadenocarcinoma MONDO:0006047 NCIT:C3874 NCIT:C8294 pancreatic adenocarcinoma MONDO:0002868 bile duct mucinous cystic neoplasm with an associated invasive carcinoma MONDO:0003420 NCIT:C4130 NCIT:C4129 bile duct cystadenoma +MONDO:0002870 tricuspid valve insufficiency MONDO:0000471 NCIT:C50842 NCIT:C78649 tricuspid valve disorder MONDO:0002871 testicular trophoblastic tumor MONDO:0002872 NCIT:C39934 NCIT:C3422 trophoblastic neoplasm +MONDO:0002871 testicular trophoblastic tumor MONDO:0002874 NCIT:C39934 NCIT:C39915 testicular pure germ cell tumor MONDO:0002871 testicular trophoblastic tumor MONDO:0006447 NCIT:C39934 NCIT:C9313 testicular non-seminomatous germ cell tumor MONDO:0002874 testicular pure germ cell tumor MONDO:0010108 NCIT:C39915 NCIT:C8591 testicular germ cell tumor MONDO:0002876 cervical adenosarcoma MONDO:0005636 NCIT:C40229 NCIT:C9474 adenosarcoma @@ -827,9 +1156,13 @@ MONDO:0002888 intraorbital meningioma MONDO:0024611 NCIT:C6778 NCIT:C3290 orbit MONDO:0002889 orbital cancer MONDO:0024611 NCIT:C3562 NCIT:C3290 orbit neoplasm MONDO:0002892 skull base chordoma MONDO:0008978 NCIT:C5453 NCIT:C2947 chordoma MONDO:0002894 spinal chordoma MONDO:0008978 NCIT:C5156 NCIT:C2947 chordoma +MONDO:0002896 primary syphilis MONDO:0005976 NCIT:C128412 NCIT:C35055 syphilis +MONDO:0002897 secondary syphilis MONDO:0005976 NCIT:C128413 NCIT:C35055 syphilis MONDO:0002898 skin cancer MONDO:0002531 NCIT:C2920 NCIT:C3372 skin neoplasm MONDO:0002899 differentiating neuroblastoma MONDO:0005072 NCIT:C42048 NCIT:C3270 neuroblastoma +MONDO:0002900 cerebral neuroblastoma MONDO:0002731 NCIT:C4826 NCIT:C4577 cerebral hemisphere cancer MONDO:0002900 cerebral neuroblastoma MONDO:0005072 NCIT:C4826 NCIT:C3270 neuroblastoma +MONDO:0002903 articulation disorder MONDO:0004750 NCIT:C92564 NCIT:C97155 language disorder MONDO:0002912 brainstem cancer MONDO:0003107 NCIT:C3570 NCIT:C4966 infratentorial cancer MONDO:0002912 brainstem cancer MONDO:0021228 NCIT:C3570 NCIT:C4869 brainstem neoplasm MONDO:0002914 childhood brain stem neoplasm MONDO:0002915 NCIT:C5969 NCIT:C5802 childhood infratentorial neoplasm @@ -871,6 +1204,7 @@ MONDO:0002962 epidermolytic acanthoma MONDO:0002093 NCIT:C27516 NCIT:C7419 acant MONDO:0002963 acantholytic acanthoma MONDO:0002093 NCIT:C27517 NCIT:C7419 acanthoma MONDO:0002966 splenic manifestation of prolymphocytic leukemia MONDO:0001023 NCIT:C7297 NCIT:C3181 prolymphocytic leukemia MONDO:0002966 splenic manifestation of prolymphocytic leukemia MONDO:0004107 NCIT:C7297 NCIT:C7296 splenic manifestation of leukemia +MONDO:0002967 dermatophytosis of scalp or beard MONDO:0004678 NCIT:C34536 NCIT:C26745 dermatophytosis MONDO:0002969 ciliary body cancer MONDO:0021229 NCIT:C4766 NCIT:C4364 ciliary body neoplasm MONDO:0002971 amelanotic melanoma MONDO:0005105 NCIT:C3802 NCIT:C3224 melanoma MONDO:0002973 epithelioid cell melanoma MONDO:0005105 NCIT:C4236 NCIT:C3224 melanoma @@ -878,6 +1212,7 @@ MONDO:0002974 cervical cancer MONDO:0002715 NCIT:C9311 NCIT:C3552 uterine cancer MONDO:0002974 cervical cancer MONDO:0021230 NCIT:C9311 NCIT:C2940 uterine cervix neoplasm MONDO:0002975 malignant breast melanoma MONDO:0005105 NCIT:C8410 NCIT:C3224 melanoma MONDO:0002975 malignant breast melanoma MONDO:0007254 NCIT:C8410 NCIT:C9335 breast cancer +MONDO:0002977 autoimmune disorder of the nervous system MONDO:0007179 NCIT:C99383 NCIT:C2889 autoimmune disease MONDO:0002978 orbit alveolar rhabdomyosarcoma MONDO:0002580 NCIT:C6247 NCIT:C4543 orbit rhabdomyosarcoma MONDO:0002979 papillary squamous carcinoma MONDO:0005096 NCIT:C4102 NCIT:C2929 squamous cell carcinoma MONDO:0002979 papillary squamous carcinoma MONDO:0006509 NCIT:C4102 NCIT:C2927 papillary carcinoma @@ -885,6 +1220,7 @@ MONDO:0002981 peripheral primitive neuroectodermal tumor of bone MONDO:0018271 N MONDO:0002981 peripheral primitive neuroectodermal tumor of bone MONDO:0021123 NCIT:C8776 NCIT:C35871 Ewing sarcoma/peripheral primitive neuroectodermal tumor of bone MONDO:0002982 peripheral primitive neuroectodermal tumor of soft tissues MONDO:0018271 NCIT:C27471 NCIT:C9341 peripheral primitive neuroectodermal tumor MONDO:0002982 peripheral primitive neuroectodermal tumor of soft tissues MONDO:0021039 NCIT:C27471 NCIT:C27293 extraskeletal Ewing sarcoma/peripheral primitive neuroectodermal tumor +MONDO:0002987 spongiotic dermatitis MONDO:0002406 NCIT:C27037 NCIT:C2983 dermatitis MONDO:0002988 cervix melanoma MONDO:0002974 NCIT:C40239 NCIT:C9311 cervical cancer MONDO:0002989 benign fibrous histiocytoma MONDO:0005509 NCIT:C3739 NCIT:C35765 histiocytoma MONDO:0002990 benign deep fibrous histiocytoma MONDO:0002989 NCIT:C6492 NCIT:C3739 benign fibrous histiocytoma @@ -897,11 +1233,15 @@ MONDO:0003000 central nervous system germ cell tumor MONDO:0018201 NCIT:C5461 NC MONDO:0003001 seminoma MONDO:0006290 NCIT:C9309 NCIT:C4925 malignant germ cell tumor MONDO:0003001 seminoma MONDO:0020580 NCIT:C9309 NCIT:C121618 germinomatous germ cell tumor MONDO:0003003 cervical alveolar soft part sarcoma MONDO:0011655 NCIT:C40225 NCIT:C3750 alveolar soft part sarcoma +MONDO:0003004 macular degeneration MONDO:0004580 NCIT:C123330 NCIT:C34979 retinal degeneration MONDO:0003007 childhood kidney cell carcinoma MONDO:0005549 NCIT:C6568 NCIT:C9385 renal cell adenocarcinoma +MONDO:0003007 childhood kidney cell carcinoma MONDO:0036511 NCIT:C6568 NCIT:C123907 childhood malignant kidney neoplasm MONDO:0003008 hereditary renal cell carcinoma MONDO:0005549 NCIT:C39789 NCIT:C9385 renal cell adenocarcinoma MONDO:0003012 sarcomatoid renal cell carcinoma MONDO:0005549 NCIT:C27893 NCIT:C9385 renal cell adenocarcinoma MONDO:0003012 sarcomatoid renal cell carcinoma MONDO:0006406 NCIT:C27893 NCIT:C27004 sarcomatoid carcinoma +MONDO:0003019 potassium deficiency disease MONDO:0005137 NCIT:C34939 NCIT:C26836 nutritional disorder MONDO:0003021 central nervous system angiosarcoma MONDO:0002217 NCIT:C5450 NCIT:C5153 central nervous system sarcoma +MONDO:0003022 pediatric angiosarcoma MONDO:0006517 NCIT:C9174 NCIT:C4005 childhood malignant neoplasm MONDO:0003022 pediatric angiosarcoma MONDO:0016982 NCIT:C9174 NCIT:C3088 angiosarcoma MONDO:0003024 breast angiosarcoma MONDO:0002490 NCIT:C5184 NCIT:C4670 breast sarcoma MONDO:0003025 conventional angiosarcoma MONDO:0016982 NCIT:C9426 NCIT:C3088 angiosarcoma @@ -916,9 +1256,13 @@ MONDO:0003035 ovarian angiosarcoma MONDO:0002225 NCIT:C5232 NCIT:C8267 ovarian s MONDO:0003041 pediatric mesenchymal chondrosarcoma MONDO:0006853 NCIT:C27374 NCIT:C3737 mesenchymal chondrosarcoma MONDO:0003042 adult mesenchymal chondrosarcoma MONDO:0006853 NCIT:C27375 NCIT:C3737 mesenchymal chondrosarcoma MONDO:0003046 anus neoplasm MONDO:0002519 NCIT:C2877 NCIT:C26695 anus disorder +MONDO:0003047 thymic large cell neuroendocrine carcinoma MONDO:0005057 NCIT:C6461 NCIT:C6875 large cell neuroendocrine carcinoma MONDO:0003047 thymic large cell neuroendocrine carcinoma MONDO:0020516 NCIT:C6461 NCIT:C171031 thymic neuroendocrine carcinoma +MONDO:0003049 ovarian large-cell neuroendocrine carcinoma MONDO:0005057 NCIT:C5238 NCIT:C6875 large cell neuroendocrine carcinoma MONDO:0003050 lung large cell carcinoma MONDO:0005232 NCIT:C4450 NCIT:C3780 large cell carcinoma MONDO:0003050 lung large cell carcinoma MONDO:0005233 NCIT:C4450 NCIT:C2926 non-small cell lung carcinoma +MONDO:0003051 non specific chronic endometritis MONDO:0024279 NCIT:C27625 NCIT:C102820 chronic endometritis +MONDO:0003052 granulomatous endometritis MONDO:0024279 NCIT:C27626 NCIT:C102820 chronic endometritis MONDO:0003054 benign meningioma MONDO:0021527 NCIT:C4055 NCIT:C4957 benign neoplasm of meninges MONDO:0003057 pediatric meningioma MONDO:0016642 NCIT:C8264 NCIT:C3230 meningioma MONDO:0003061 benign muscle neoplasm MONDO:0021545 NCIT:C4882 NCIT:C4063 myomatous neoplasm @@ -926,6 +1270,10 @@ MONDO:0003062 intestinal benign neoplasm MONDO:0000385 NCIT:C4609 NCIT:C4787 ben MONDO:0003062 intestinal benign neoplasm MONDO:0021118 NCIT:C4609 NCIT:C3141 intestinal neoplasm MONDO:0003064 inverted transitional cell papilloma MONDO:0002537 NCIT:C4118 NCIT:C3793 inverted papilloma MONDO:0003064 inverted transitional cell papilloma MONDO:0005605 NCIT:C4118 NCIT:C4115 transitional cell papilloma +MONDO:0003067 cervical lymphadenitis MONDO:0002052 NCIT:C26937 NCIT:C26821 lymphadenitis +MONDO:0003068 postauricular lymphadenitis MONDO:0002052 NCIT:C27332 NCIT:C26821 lymphadenitis +MONDO:0003069 suppurative lymphadenitis MONDO:0002052 NCIT:C27135 NCIT:C26821 lymphadenitis +MONDO:0003070 axillary lymphadenitis MONDO:0002052 NCIT:C27333 NCIT:C26821 lymphadenitis MONDO:0003072 retinal cancer MONDO:0002236 NCIT:C3216 NCIT:C4767 ocular cancer MONDO:0003072 retinal cancer MONDO:0021231 NCIT:C3216 NCIT:C4800 retina neoplasm MONDO:0003073 trilateral retinoblastoma MONDO:0008380 NCIT:C7019 NCIT:C7541 retinoblastoma @@ -935,6 +1283,7 @@ MONDO:0003077 intraocular retinoblastoma MONDO:0008380 NCIT:C7846 NCIT:C7541 ret MONDO:0003078 extraocular retinoblastoma MONDO:0008380 NCIT:C7848 NCIT:C7541 retinoblastoma MONDO:0003079 mastocytoma MONDO:0002724 NCIT:C9303 NCIT:C9295 mast cell neoplasm MONDO:0003083 venous hemangioma MONDO:0006500 NCIT:C4296 NCIT:C3085 hemangioma +MONDO:0003084 uremic neuropathy MONDO:0005244 NCIT:C27055 NCIT:C4731 peripheral neuropathy MONDO:0003086 thymic mucoepidermoid carcinoma MONDO:0003036 NCIT:C6457 NCIT:C3772 mucoepidermoid carcinoma MONDO:0003087 mucoepidermoid breast carcinoma MONDO:0003036 NCIT:C5166 NCIT:C3772 mucoepidermoid carcinoma MONDO:0003087 mucoepidermoid breast carcinoma MONDO:0006256 NCIT:C5166 NCIT:C9245 invasive breast carcinoma @@ -949,9 +1298,11 @@ MONDO:0003095 laryngeal mucoepidermoid carcinoma MONDO:0002358 NCIT:C9463 NCIT:C MONDO:0003095 laryngeal mucoepidermoid carcinoma MONDO:0003036 NCIT:C9463 NCIT:C3772 mucoepidermoid carcinoma MONDO:0003096 deep hemangioma MONDO:0006500 NCIT:C6555 NCIT:C3085 hemangioma MONDO:0003097 childhood mediastinal neurogenic neoplasm MONDO:0003098 NCIT:C5429 NCIT:C6624 mediastinal neural neoplasm +MONDO:0003097 childhood mediastinal neurogenic neoplasm MONDO:0021079 NCIT:C5429 NCIT:C6283 childhood neoplasm MONDO:0003098 mediastinal neural neoplasm MONDO:0021386 NCIT:C6624 NCIT:C3221 neoplasm of mediastinum MONDO:0003100 nerve plexus neoplasm MONDO:0001406 NCIT:C5822 NCIT:C3321 peripheral nervous system neoplasm MONDO:0003104 epicardium cancer MONDO:0021379 NCIT:C4568 NCIT:C5347 neoplasm of epicardium +MONDO:0003105 prostate disorder MONDO:0003150 NCIT:C26865 NCIT:C27019 male reproductive system disorder MONDO:0003107 infratentorial cancer MONDO:0001657 NCIT:C4966 NCIT:C3568 brain cancer MONDO:0003108 cervicomedullary junction neoplasm MONDO:0021234 NCIT:C5423 NCIT:C3381 spinal cord neoplasm MONDO:0003109 foramen magnum meningioma MONDO:0002998 NCIT:C5280 NCIT:C5272 skull base meningioma @@ -964,20 +1315,32 @@ MONDO:0003113 extragonadal germ cell cancer MONDO:0006290 NCIT:C8881 NCIT:C4925 MONDO:0003113 extragonadal germ cell cancer MONDO:0018201 NCIT:C8881 NCIT:C3918 extragonadal germ cell tumor MONDO:0003115 subglottic hemangioma MONDO:0006500 NCIT:C6026 NCIT:C3085 hemangioma MONDO:0003115 subglottic hemangioma MONDO:0021530 NCIT:C6026 NCIT:C4427 benign neoplasm of subglottis +MONDO:0003117 somatoform disorder MONDO:0002025 NCIT:C34956 NCIT:C2893 psychiatric disorder +MONDO:0003118 testicular Brenner tumor MONDO:0021348 NCIT:C39953 NCIT:C3404 neoplasm of testis MONDO:0003118 testicular Brenner tumor MONDO:0024235 NCIT:C39953 NCIT:C39954 Brenner tumor MONDO:0003120 mixed testicular germ cell cancer MONDO:0003510 NCIT:C6347 NCIT:C9063 malignant testicular germ cell tumor MONDO:0003120 mixed testicular germ cell cancer MONDO:0015864 NCIT:C6347 NCIT:C4290 mixed germ cell tumor +MONDO:0003122 striatonigral degeneration MONDO:0007803 NCIT:C125695 NCIT:C84909 multiple system atrophy MONDO:0003124 testicular Leydig cell tumor MONDO:0003125 NCIT:C6356 NCIT:C6358 testicular sex cord-stromal neoplasm MONDO:0003124 testicular Leydig cell tumor MONDO:0006266 NCIT:C6356 NCIT:C3188 Leydig cell tumor MONDO:0003125 testicular sex cord-stromal neoplasm MONDO:0006055 NCIT:C6358 NCIT:C3794 sex cord-stromal tumor MONDO:0003125 testicular sex cord-stromal neoplasm MONDO:0021348 NCIT:C6358 NCIT:C3404 neoplasm of testis MONDO:0003126 breast hemangioma MONDO:0000620 NCIT:C5353 NCIT:C4505 breast benign neoplasm MONDO:0003126 breast hemangioma MONDO:0006500 NCIT:C5353 NCIT:C3085 hemangioma +MONDO:0003133 exudative glomerulonephritis MONDO:0002462 NCIT:C35706 NCIT:C26784 glomerulonephritis +MONDO:0003134 proliferative glomerulonephritis MONDO:0002462 NCIT:C35281 NCIT:C26784 glomerulonephritis +MONDO:0003135 focal embolic glomerulonephritis MONDO:0002462 NCIT:C35707 NCIT:C26784 glomerulonephritis +MONDO:0003136 anti-basement membrane glomerulonephritis MONDO:0002462 NCIT:C35798 NCIT:C26784 glomerulonephritis +MONDO:0003137 diffuse glomerulonephritis MONDO:0002462 NCIT:C35799 NCIT:C26784 glomerulonephritis +MONDO:0003138 subacute glomerulonephritis MONDO:0002462 NCIT:C35801 NCIT:C26784 glomerulonephritis +MONDO:0003139 mesangial proliferative glomerulonephritis MONDO:0002462 NCIT:C35445 NCIT:C26784 glomerulonephritis +MONDO:0003140 immune-complex glomerulonephritis MONDO:0002462 NCIT:C35800 NCIT:C26784 glomerulonephritis MONDO:0003141 cerebellopontine angle embryonal tumor MONDO:0002553 NCIT:C5436 NCIT:C5414 cerebellopontine angle tumor MONDO:0003141 cerebellopontine angle embryonal tumor MONDO:0003107 NCIT:C5436 NCIT:C4966 infratentorial cancer MONDO:0003142 intracranial primitive neuroectodermal tumor MONDO:0000640 NCIT:C5817 NCIT:C5398 central nervous system primitive neuroectodermal neoplasm MONDO:0003142 intracranial primitive neuroectodermal tumor MONDO:0001657 NCIT:C5817 NCIT:C3568 brain cancer MONDO:0003145 supratentorial primitive neuroectodermal tumor MONDO:0002071 NCIT:C6968 NCIT:C4964 supratentorial cancer +MONDO:0003150 male reproductive system disorder MONDO:0005039 NCIT:C27019 NCIT:C4875 reproductive system disorder MONDO:0003152 adult brainstem gliosarcoma MONDO:0003153 NCIT:C9370 NCIT:C9091 adult brainstem glioma MONDO:0003153 adult brainstem glioma MONDO:0002911 NCIT:C9091 NCIT:C8501 brain stem glioma MONDO:0003153 adult brainstem glioma MONDO:0024797 NCIT:C9091 NCIT:C5967 adult brain stem neoplasm @@ -1084,6 +1447,7 @@ MONDO:0003274 thoracic cancer MONDO:0004992 NCIT:C3576 NCIT:C9305 cancer MONDO:0003274 thoracic cancer MONDO:0021350 NCIT:C3576 NCIT:C3406 neoplasm of thorax MONDO:0003275 middle ear cancer MONDO:0003277 NCIT:C4765 NCIT:C9337 malignant ear neoplasm MONDO:0003275 middle ear cancer MONDO:0021366 NCIT:C4765 NCIT:C4412 neoplasm of middle ear +MONDO:0003276 middle ear disorder MONDO:0021205 NCIT:C27065 NCIT:C26757 disorder of ear MONDO:0003277 malignant ear neoplasm MONDO:0005627 NCIT:C9337 NCIT:C4013 head and neck cancer MONDO:0003277 malignant ear neoplasm MONDO:0021233 NCIT:C9337 NCIT:C3000 ear neoplasm MONDO:0003281 ovarian cystic teratoma MONDO:0002379 NCIT:C7283 NCIT:C9014 cystic teratoma @@ -1111,7 +1475,10 @@ MONDO:0003303 neurofibroma of gallbladder MONDO:0016755 NCIT:C5746 NCIT:C3272 ne MONDO:0003304 plexiform neurofibroma MONDO:0016755 NCIT:C3797 NCIT:C3272 neurofibroma MONDO:0003305 cellular neurofibroma MONDO:0016755 NCIT:C41427 NCIT:C3272 neurofibroma MONDO:0003306 atypical neurofibroma MONDO:0016755 NCIT:C41426 NCIT:C3272 neurofibroma +MONDO:0003307 multiple mucosal neuroma MONDO:0002173 NCIT:C6559 NCIT:C3275 neuroma +MONDO:0003308 pleural mesothelioma MONDO:0005065 NCIT:C9351 NCIT:C3234 mesothelioma MONDO:0003308 pleural mesothelioma MONDO:0021065 NCIT:C9351 NCIT:C3332 pleural neoplasm +MONDO:0003310 Monckeberg arteriosclerosis MONDO:0002277 NCIT:C35770 NCIT:C34398 arteriosclerosis disorder MONDO:0003312 ovarian endometrioid stromal and related neoplasms MONDO:0037742 NCIT:C40065 NCIT:C8384 endometrioid stromal and related neoplasms MONDO:0003314 endometrioid stromal and related neoplasms of the vagina MONDO:0037742 NCIT:C40269 NCIT:C8384 endometrioid stromal and related neoplasms MONDO:0003316 nonanaplastic kidney Wilms tumor MONDO:0019004 NCIT:C6951 NCIT:C40407 kidney Wilms tumor @@ -1125,12 +1492,20 @@ MONDO:0003326 intermixed schwannian stroma-rich ganglioneuroblastoma MONDO:00050 MONDO:0003327 peripheral ganglioneuroblastoma MONDO:0005035 NCIT:C6594 NCIT:C3790 ganglioneuroblastoma MONDO:0003328 fallopian tube adenomatoid tumor MONDO:0000645 NCIT:C40129 NCIT:C4517 fallopian tube benign neoplasm MONDO:0003328 fallopian tube adenomatoid tumor MONDO:0004230 NCIT:C40129 NCIT:C3762 adenomatoid tumor +MONDO:0003330 urinary tract obstruction MONDO:0002118 NCIT:C3675 NCIT:C3430 urinary system disorder MONDO:0003331 ovarian monodermal teratoma MONDO:0005602 NCIT:C7286 NCIT:C8110 ovarian teratoma MONDO:0003332 malignant struma ovarii MONDO:0006444 NCIT:C4291 NCIT:C4289 teratoma with malignant transformation +MONDO:0003332 malignant struma ovarii MONDO:0006980 NCIT:C4291 NCIT:C7468 struma ovarii +MONDO:0003334 demyelinating polyneuropathy MONDO:0001824 NCIT:C27062 NCIT:C26951 polyneuropathy +MONDO:0003334 demyelinating polyneuropathy MONDO:0002562 NCIT:C27062 NCIT:C34527 demyelinating disease +MONDO:0003335 chronic polyneuropathy MONDO:0001824 NCIT:C36071 NCIT:C26951 polyneuropathy +MONDO:0003336 acute necrotizing encephalitis MONDO:0006009 NCIT:C35383 NCIT:C35302 viral encephalitis +MONDO:0003337 acute hemorrhagic encephalitis MONDO:0006009 NCIT:C35796 NCIT:C35302 viral encephalitis MONDO:0003340 malignant glomus tumor MONDO:0018327 NCIT:C4221 NCIT:C3060 glomus tumor MONDO:0003341 subungual glomus tumor MONDO:0002295 NCIT:C36079 NCIT:C4491 skin glomus tumor MONDO:0003342 benign perivascular tumor MONDO:0002604 NCIT:C6529 NCIT:C6528 pericytic neoplasm MONDO:0003343 retinal hemangioblastoma MONDO:0016748 NCIT:C39783 NCIT:C3801 hemangioblastoma +MONDO:0003346 central nervous system vasculitis MONDO:0018882 NCIT:C84622 NCIT:C26912 vasculitis MONDO:0003347 inflammatory leiomyosarcoma MONDO:0005058 NCIT:C27495 NCIT:C3158 leiomyosarcoma MONDO:0003348 conventional leiomyosarcoma MONDO:0005058 NCIT:C9428 NCIT:C3158 leiomyosarcoma MONDO:0003349 central nervous system leiomyosarcoma MONDO:0002217 NCIT:C6999 NCIT:C5153 central nervous system sarcoma @@ -1171,10 +1546,14 @@ MONDO:0003376 mediastinum leiomyosarcoma MONDO:0005058 NCIT:C6619 NCIT:C3158 lei MONDO:0003377 extrahepatic bile duct leiomyosarcoma MONDO:0024658 NCIT:C5848 NCIT:C5029 extrahepatic bile duct sarcoma MONDO:0003378 liver leiomyosarcoma MONDO:0002397 NCIT:C5756 NCIT:C4437 liver sarcoma MONDO:0003379 rectum leiomyosarcoma MONDO:0002168 NCIT:C5549 NCIT:C5548 rectum sarcoma +MONDO:0003382 eyelid disorder MONDO:0005328 NCIT:C26768 NCIT:C26767 eye disorder MONDO:0003383 fallopian tube clear cell adenocarcinoma MONDO:0002746 NCIT:C6280 NCIT:C6265 fallopian tube adenocarcinoma MONDO:0003383 fallopian tube clear cell adenocarcinoma MONDO:0005004 NCIT:C6280 NCIT:C3766 clear cell adenocarcinoma MONDO:0003384 uterine ligament clear cell adenocarcinoma MONDO:0002741 NCIT:C40139 NCIT:C40135 uterine ligament adenocarcinoma +MONDO:0003386 bladder clear cell adenocarcinoma MONDO:0002751 NCIT:C6179 NCIT:C4032 bladder adenocarcinoma +MONDO:0003386 bladder clear cell adenocarcinoma MONDO:0005004 NCIT:C6179 NCIT:C3766 clear cell adenocarcinoma MONDO:0003387 urethra clear cell adenocarcinoma MONDO:0003200 NCIT:C6172 NCIT:C6167 urethra adenocarcinoma +MONDO:0003387 urethra clear cell adenocarcinoma MONDO:0005004 NCIT:C6172 NCIT:C3766 clear cell adenocarcinoma MONDO:0003388 ampulla of vater clear cell adenocarcinoma MONDO:0002670 NCIT:C27414 NCIT:C6650 ampulla of vater adenocarcinoma MONDO:0003389 epithelial-myoepithelial carcinoma MONDO:0004993 NCIT:C4199 NCIT:C2916 carcinoma MONDO:0003390 glycogen-rich clear cell breast carcinoma MONDO:0004953 NCIT:C40368 NCIT:C4194 invasive ductal breast carcinoma @@ -1184,8 +1563,10 @@ MONDO:0003391 vulvar alveolar soft part sarcoma MONDO:0005214 NCIT:C40320 NCIT:C MONDO:0003391 vulvar alveolar soft part sarcoma MONDO:0011655 NCIT:C40320 NCIT:C3750 alveolar soft part sarcoma MONDO:0003392 fallopian tube germ cell tumor MONDO:0005040 NCIT:C40130 NCIT:C3708 germ cell tumor MONDO:0003392 fallopian tube germ cell tumor MONDO:0021092 NCIT:C40130 NCIT:C3032 fallopian tube neoplasm +MONDO:0003394 dental pulp disorder MONDO:0006999 NCIT:C34530 NCIT:C35077 tooth disorder MONDO:0003395 testicular granulosa cell tumor MONDO:0003125 NCIT:C6357 NCIT:C6358 testicular sex cord-stromal neoplasm MONDO:0003395 testicular granulosa cell tumor MONDO:0006036 NCIT:C6357 NCIT:C3070 granulosa cell tumor +MONDO:0003396 epulis MONDO:0005079 NCIT:C3948 NCIT:C3340 polyp MONDO:0003399 pineal region yolk sac tumor MONDO:0002073 NCIT:C6752 NCIT:C6767 malignant pineal area germ cell neoplasm MONDO:0003400 childhood endodermal sinus tumor MONDO:0004479 NCIT:C27364 NCIT:C6541 malignant childhood germ cell neoplasm MONDO:0003400 childhood endodermal sinus tumor MONDO:0005744 NCIT:C27364 NCIT:C3011 yolk sac tumor @@ -1233,6 +1614,7 @@ MONDO:0003435 microcystic adenoma MONDO:0004972 NCIT:C3685 NCIT:C2855 adenoma MONDO:0003437 occult small cell lung carcinoma MONDO:0008433 NCIT:C6683 NCIT:C4917 small cell lung carcinoma MONDO:0003438 combined small cell lung carcinoma MONDO:0006167 NCIT:C9137 NCIT:C7591 combined lung carcinoma MONDO:0003438 combined small cell lung carcinoma MONDO:0008433 NCIT:C9137 NCIT:C4917 small cell lung carcinoma +MONDO:0003441 dystonic disorder MONDO:0005395 NCIT:C34563 NCIT:C116757 movement disorder MONDO:0003442 bladder papillary urothelial neoplasm MONDO:0003443 NCIT:C39857 NCIT:C27883 papillary urothelial neoplasm MONDO:0003442 bladder papillary urothelial neoplasm MONDO:0004987 NCIT:C39857 NCIT:C2901 urinary bladder neoplasm MONDO:0003443 papillary urothelial neoplasm MONDO:0021096 NCIT:C27883 NCIT:C8429 papillary epithelial neoplasm @@ -1294,17 +1676,21 @@ MONDO:0003510 malignant testicular germ cell tumor MONDO:0006290 NCIT:C9063 NCIT MONDO:0003510 malignant testicular germ cell tumor MONDO:0010108 NCIT:C9063 NCIT:C8591 testicular germ cell tumor MONDO:0003512 mediastinal mesenchymal tumor MONDO:0006424 NCIT:C6637 NCIT:C3377 soft tissue neoplasm MONDO:0003512 mediastinal mesenchymal tumor MONDO:0021386 NCIT:C6637 NCIT:C3221 neoplasm of mediastinum +MONDO:0003513 gastric teratoma MONDO:0002601 NCIT:C5259 NCIT:C3403 teratoma MONDO:0003514 malignant teratoma MONDO:0002601 NCIT:C4287 NCIT:C3403 teratoma MONDO:0003514 malignant teratoma MONDO:0006290 NCIT:C4287 NCIT:C4925 malignant germ cell tumor +MONDO:0003515 fallopian tube teratoma MONDO:0002601 NCIT:C40131 NCIT:C3403 teratoma MONDO:0003515 fallopian tube teratoma MONDO:0003392 NCIT:C40131 NCIT:C40130 fallopian tube germ cell tumor MONDO:0003516 adult teratoma MONDO:0002601 NCIT:C9013 NCIT:C3403 teratoma MONDO:0003516 adult teratoma MONDO:0044878 NCIT:C9013 NCIT:C114777 adult germ cell tumor +MONDO:0003518 mediastinum teratoma MONDO:0002601 NCIT:C6438 NCIT:C3403 teratoma MONDO:0003518 mediastinum teratoma MONDO:0021067 NCIT:C6438 NCIT:C6437 mediastinal germ cell tumor MONDO:0003523 gastrin-producing neuroendocrine tumor MONDO:0000386 NCIT:C3050 NCIT:C95404 digestive system neuroendocrine tumor, grade 1/2 MONDO:0003524 gastric gastrin-producing neuroendocrine tumor MONDO:0003523 NCIT:C27444 NCIT:C3050 gastrin-producing neuroendocrine tumor MONDO:0003524 gastric gastrin-producing neuroendocrine tumor MONDO:0015062 NCIT:C27444 NCIT:C95871 gastric neuroendocrine tumor, well differentiated, low or intermediate grade MONDO:0003525 pancreatic gastrin-producing neuroendocrine tumor MONDO:0003523 NCIT:C9069 NCIT:C3050 gastrin-producing neuroendocrine tumor MONDO:0003525 pancreatic gastrin-producing neuroendocrine tumor MONDO:0019954 NCIT:C9069 NCIT:C27720 pancreatic neuroendocrine tumor +MONDO:0003529 acute pyelonephritis MONDO:0006939 NCIT:C123215 NCIT:C34965 pyelonephritis MONDO:0003531 papillary eccrine carcinoma MONDO:0002512 NCIT:C27254 NCIT:C2853 papillary adenocarcinoma MONDO:0003531 papillary eccrine carcinoma MONDO:0024240 NCIT:C27254 NCIT:C27255 eccrine carcinoma MONDO:0003532 breast papillary carcinoma MONDO:0002512 NCIT:C9134 NCIT:C2853 papillary adenocarcinoma @@ -1315,8 +1701,10 @@ MONDO:0003537 precursor T-lymphoblastic lymphoma/leukemia MONDO:0024615 NCIT:C86 MONDO:0003538 precursor lymphoblastic lymphoma/leukemia MONDO:0005157 NCIT:C7055 NCIT:C7065 lymphoid neoplasm MONDO:0003539 T-cell adult acute lymphocytic leukemia MONDO:0003541 NCIT:C9142 NCIT:C4967 adult acute lymphoblastic leukemia MONDO:0003541 adult acute lymphoblastic leukemia MONDO:0004967 NCIT:C4967 NCIT:C3167 acute lymphoblastic leukemia +MONDO:0003543 trigeminal nerve disorder MONDO:0003569 NCIT:C26952 NCIT:C26733 cranial nerve neuropathy MONDO:0003544 spinal cord cancer MONDO:0002714 NCIT:C3572 NCIT:C4627 central nervous system cancer MONDO:0003544 spinal cord cancer MONDO:0021234 NCIT:C3572 NCIT:C3381 spinal cord neoplasm +MONDO:0003546 third cranial nerve disorder MONDO:0003569 NCIT:C27598 NCIT:C26733 cranial nerve neuropathy MONDO:0003548 adenosquamous breast carcinoma MONDO:0006074 NCIT:C40361 NCIT:C3727 adenosquamous carcinoma MONDO:0003550 esophageal adenosquamous carcinoma MONDO:0006074 NCIT:C27421 NCIT:C3727 adenosquamous carcinoma MONDO:0003551 thymic adenosquamous carcinoma MONDO:0006074 NCIT:C6458 NCIT:C3727 adenosquamous carcinoma @@ -1327,18 +1715,24 @@ MONDO:0003557 optic nerve sheath meningioma MONDO:0002640 NCIT:C4538 NCIT:C4801 MONDO:0003558 adenosquamous prostate carcinoma MONDO:0006074 NCIT:C5538 NCIT:C3727 adenosquamous carcinoma MONDO:0003561 malignant giant cell tumor of soft parts MONDO:0002142 NCIT:C8380 NCIT:C4247 undifferentiated pleomorphic sarcoma MONDO:0003561 malignant giant cell tumor of soft parts MONDO:0002402 NCIT:C8380 NCIT:C4090 malignant giant cell tumor +MONDO:0003563 diffuse pulmonary fibrosis MONDO:0002771 NCIT:C27216 NCIT:C26869 pulmonary fibrosis +MONDO:0003564 localized pulmonary fibrosis MONDO:0002771 NCIT:C27103 NCIT:C26869 pulmonary fibrosis +MONDO:0003569 cranial nerve neuropathy MONDO:0005071 NCIT:C26733 NCIT:C26835 nervous system disorder MONDO:0003570 lipid-rich carcinoma MONDO:0004993 NCIT:C4152 NCIT:C2916 carcinoma MONDO:0003572 nasopharyngeal type undifferentiated carcinoma MONDO:0005232 NCIT:C4107 NCIT:C3780 large cell carcinoma MONDO:0003573 pleomorphic carcinoma MONDO:0006406 NCIT:C4094 NCIT:C27004 sarcomatoid carcinoma MONDO:0003574 external ear cancer MONDO:0003277 NCIT:C4653 NCIT:C9337 malignant ear neoplasm MONDO:0003574 external ear cancer MONDO:0021235 NCIT:C4653 NCIT:C4652 external ear neoplasm +MONDO:0003575 comedocarcinoma MONDO:0004993 NCIT:C4188 NCIT:C2916 carcinoma MONDO:0003578 extragonadal nonseminomatous germ cell tumor MONDO:0003113 NCIT:C8885 NCIT:C8881 extragonadal germ cell cancer MONDO:0003581 ovarian embryonal carcinoma MONDO:0005440 NCIT:C8108 NCIT:C3752 embryonal carcinoma MONDO:0003581 ovarian embryonal carcinoma MONDO:0016096 NCIT:C8108 NCIT:C102870 malignant non-dysgerminomatous germ cell tumor of ovary +MONDO:0003582 hereditary breast ovarian cancer syndrome MONDO:0015356 NCIT:C8493 NCIT:C3266 hereditary neoplastic syndrome MONDO:0003585 adult liposarcoma MONDO:0005060 NCIT:C7811 NCIT:C3194 liposarcoma MONDO:0003586 esophagus liposarcoma MONDO:0001204 NCIT:C5705 NCIT:C5341 esophagus sarcoma MONDO:0003586 esophagus liposarcoma MONDO:0005060 NCIT:C5705 NCIT:C3194 liposarcoma MONDO:0003587 pediatric liposarcoma MONDO:0005060 NCIT:C8091 NCIT:C3194 liposarcoma +MONDO:0003587 pediatric liposarcoma MONDO:0006517 NCIT:C8091 NCIT:C4005 childhood malignant neoplasm MONDO:0003588 larynx liposarcoma MONDO:0005060 NCIT:C6021 NCIT:C3194 liposarcoma MONDO:0003589 liposarcoma of the ovary MONDO:0002225 NCIT:C6419 NCIT:C8267 ovarian sarcoma MONDO:0003589 liposarcoma of the ovary MONDO:0005060 NCIT:C6419 NCIT:C3194 liposarcoma @@ -1360,18 +1754,24 @@ MONDO:0003606 adrenal medulla cancer MONDO:0021237 NCIT:C4396 NCIT:C4856 adrenal MONDO:0003609 seminal vesicle cystadenoma MONDO:0002369 NCIT:C39907 NCIT:C2972 cystadenoma MONDO:0003612 uterine ligament cancer MONDO:0021629 NCIT:C126498 NCIT:C40133 uterine ligament neoplasm MONDO:0003614 intravenous leiomyomatosis MONDO:0003295 NCIT:C4518 NCIT:C3748 leiomyomatosis +MONDO:0003615 nerve compression syndrome MONDO:0005244 NCIT:C27221 NCIT:C4731 peripheral neuropathy +MONDO:0003617 chronic salpingitis MONDO:0003619 NCIT:C40118 NCIT:C26880 salpingitis +MONDO:0003620 peripheral nervous system disorder MONDO:0005071 NCIT:C27580 NCIT:C26835 nervous system disorder MONDO:0003621 small intestinal vasoactive intestinal peptide producing tumor MONDO:0002995 NCIT:C27455 NCIT:C96061 small intestine neuroendocrine tumor, well differentiated, low or intermediate grade MONDO:0003621 small intestinal vasoactive intestinal peptide producing tumor MONDO:0019960 NCIT:C27455 NCIT:C26749 VIPoma MONDO:0003622 pancreatic vasoactive intestinal peptide producing tumor MONDO:0019960 NCIT:C27454 NCIT:C26749 VIPoma MONDO:0003624 acinic cell breast carcinoma MONDO:0004965 NCIT:C40367 NCIT:C3768 acinar cell carcinoma +MONDO:0003628 pulmonary valve disorder MONDO:0002869 NCIT:C78579 NCIT:C45525 heart valve disorder MONDO:0003630 pancreatic serous cystadenocarcinoma MONDO:0002810 NCIT:C5724 NCIT:C41248 pancreatic serous cystic neoplasm MONDO:0003630 pancreatic serous cystadenocarcinoma MONDO:0002867 NCIT:C5724 NCIT:C3874 pancreatic cystadenocarcinoma MONDO:0003630 pancreatic serous cystadenocarcinoma MONDO:0024621 NCIT:C5724 NCIT:C3778 serous cystadenocarcinoma MONDO:0003631 cervical serous adenocarcinoma MONDO:0005278 NCIT:C40201 NCIT:C40101 serous adenocarcinoma +MONDO:0003632 endocervicitis MONDO:0002345 NCIT:C26762 NCIT:C26716 cervicitis MONDO:0003633 malignant mesenchymoma MONDO:0006854 NCIT:C4268 NCIT:C3233 mesenchymoma MONDO:0003635 sebaceous breast carcinoma MONDO:0006962 NCIT:C40369 NCIT:C40310 sebaceous adenocarcinoma MONDO:0003636 vulvar sebaceous carcinoma MONDO:0024336 NCIT:C40309 NCIT:C6380 vulvar adenocarcinoma MONDO:0003639 lung hilum neoplasm MONDO:0021117 NCIT:C5671 NCIT:C3200 lung neoplasm +MONDO:0003640 verruciform xanthoma of skin MONDO:0005236 NCIT:C4478 NCIT:C4071 xanthoma MONDO:0003641 central nervous system hematopoietic neoplasm MONDO:0006130 NCIT:C5503 NCIT:C9293 central nervous system neoplasm MONDO:0003641 central nervous system hematopoietic neoplasm MONDO:0044881 NCIT:C5503 NCIT:C27134 hematopoietic and lymphoid cell neoplasm MONDO:0003643 giant hemangioma MONDO:0003155 NCIT:C27777 NCIT:C3086 cavernous hemangioma @@ -1380,14 +1780,19 @@ MONDO:0003644 cavernous hemangioma of colon MONDO:0003155 NCIT:C5395 NCIT:C3086 MONDO:0003645 cavernous hemangioma of face MONDO:0003155 NCIT:C7053 NCIT:C3086 cavernous hemangioma MONDO:0003649 esophageal neuroendocrine tumor MONDO:0000386 NCIT:C95616 NCIT:C95404 digestive system neuroendocrine tumor, grade 1/2 MONDO:0003650 mixed hepatoblastoma MONDO:0018666 NCIT:C7097 NCIT:C3728 hepatoblastoma +MONDO:0003651 macrotrabecular hepatoblastoma MONDO:0018666 NCIT:C7095 NCIT:C3728 hepatoblastoma +MONDO:0003652 acute urate nephropathy MONDO:0008171 NCIT:C123037 NCIT:C114667 nephrolithiasis +MONDO:0003654 childhood parosteal osteosarcoma MONDO:0002623 NCIT:C6589 NCIT:C6585 pediatric osteosarcoma MONDO:0003654 childhood parosteal osteosarcoma MONDO:0006817 NCIT:C6589 NCIT:C8969 juxtacortical osteosarcoma MONDO:0003655 cerebral lymphoma MONDO:0002571 NCIT:C7611 NCIT:C9301 primary central nervous system lymphoma MONDO:0003655 cerebral lymphoma MONDO:0002731 NCIT:C7611 NCIT:C4577 cerebral hemisphere cancer +MONDO:0003658 B-cell lymphoma, unclassifiable, with features intermediate between diffuse large b-cell lymphoma and classical Hodgkin lymphoma MONDO:0005062 NCIT:C37869 NCIT:C3208 lymphoma MONDO:0003659 pediatric lymphoma MONDO:0005062 NCIT:C5165 NCIT:C3208 lymphoma MONDO:0003659 pediatric lymphoma MONDO:0006517 NCIT:C5165 NCIT:C4005 childhood malignant neoplasm MONDO:0003660 adult lymphoma MONDO:0005062 NCIT:C7587 NCIT:C3208 lymphoma MONDO:0003661 breast lymphoma MONDO:0007254 NCIT:C4671 NCIT:C9335 breast cancer MONDO:0003663 uterine ligament endometrioid adenocarcinoma MONDO:0002741 NCIT:C40138 NCIT:C40135 uterine ligament adenocarcinoma +MONDO:0003664 hemolytic anemia MONDO:0004139 NCIT:C34376 NCIT:C35142 normocytic anemia MONDO:0003665 cervical endometrioid adenocarcinoma MONDO:0005026 NCIT:C6343 NCIT:C3769 endometrioid adenocarcinoma MONDO:0003666 fallopian tube endometrioid adenocarcinoma MONDO:0002746 NCIT:C6279 NCIT:C6265 fallopian tube adenocarcinoma MONDO:0003666 fallopian tube endometrioid adenocarcinoma MONDO:0005026 NCIT:C6279 NCIT:C3769 endometrioid adenocarcinoma @@ -1396,6 +1801,7 @@ MONDO:0003668 extragonadal seminoma MONDO:0003113 NCIT:C7327 NCIT:C8881 extragon MONDO:0003669 testicular seminoma MONDO:0002874 NCIT:C7328 NCIT:C39915 testicular pure germ cell tumor MONDO:0003669 testicular seminoma MONDO:0003001 NCIT:C7328 NCIT:C9309 seminoma MONDO:0003669 testicular seminoma MONDO:0003510 NCIT:C7328 NCIT:C9063 malignant testicular germ cell tumor +MONDO:0003678 silent myocardial infarction MONDO:0005068 NCIT:C35400 NCIT:C27996 myocardial infarction MONDO:0003680 periosteal chondrosarcoma MONDO:0021054 NCIT:C7357 NCIT:C9312 bone sarcoma MONDO:0003682 localized chondrosarcoma MONDO:0008977 NCIT:C8778 NCIT:C2946 chondrosarcoma MONDO:0003684 clear cell chondrosarcoma MONDO:0021054 NCIT:C6475 NCIT:C9312 bone sarcoma @@ -1403,6 +1809,8 @@ MONDO:0003685 retroperitoneal germ cell neoplasm MONDO:0024645 NCIT:C6447 NCIT:C MONDO:0003686 apocrine sweat gland neoplasm MONDO:0002381 NCIT:C6798 NCIT:C3398 sweat gland neoplasm MONDO:0003687 endocardium cancer MONDO:0001340 NCIT:C4570 NCIT:C3548 heart cancer MONDO:0003687 endocardium cancer MONDO:0021378 NCIT:C4570 NCIT:C5346 neoplasm of endocardium +MONDO:0003688 well differentiated papillary mesothelioma MONDO:0005065 NCIT:C7635 NCIT:C3234 mesothelioma +MONDO:0003689 familial hemolytic anemia MONDO:0003664 NCIT:C34379 NCIT:C34376 hemolytic anemia MONDO:0003690 adult anaplastic ependymoma MONDO:0016700 NCIT:C8269 NCIT:C4049 anaplastic ependymoma MONDO:0003691 childhood malignant mesenchymoma MONDO:0003633 NCIT:C8097 NCIT:C4268 malignant mesenchymoma MONDO:0003692 adult malignant mesenchymoma MONDO:0003633 NCIT:C7947 NCIT:C4268 malignant mesenchymoma @@ -1413,6 +1821,7 @@ MONDO:0003694 ovarian clear cell cystadenofibroma MONDO:0003695 NCIT:C40086 NCIT MONDO:0003695 ovarian clear cell adenofibroma MONDO:0003460 NCIT:C40085 NCIT:C8987 clear cell adenofibroma MONDO:0003698 penis verrucous carcinoma MONDO:0004433 NCIT:C6982 NCIT:C6983 papillary carcinoma of the penis MONDO:0003698 penis verrucous carcinoma MONDO:0006006 NCIT:C6982 NCIT:C3781 verrucous carcinoma +MONDO:0003699 phobic disorder MONDO:0005618 NCIT:C35420 NCIT:C2878 anxiety disorder MONDO:0003700 brachial plexus neoplasm MONDO:0003100 NCIT:C5823 NCIT:C5822 nerve plexus neoplasm MONDO:0003701 thyroid gland diffuse sclerosing papillary carcinoma MONDO:0005075 NCIT:C7427 NCIT:C4035 thyroid gland papillary carcinoma MONDO:0003702 uterus intravascular leiomyomatosis MONDO:0003614 NCIT:C5356 NCIT:C4518 intravenous leiomyomatosis @@ -1423,8 +1832,11 @@ MONDO:0003706 adult brainstem astrocytoma MONDO:0002503 NCIT:C6954 NCIT:C7049 ad MONDO:0003706 adult brainstem astrocytoma MONDO:0003153 NCIT:C6954 NCIT:C9091 adult brainstem glioma MONDO:0003706 adult brainstem astrocytoma MONDO:0003173 NCIT:C6954 NCIT:C7445 brain stem astrocytic neoplasm MONDO:0003707 distal biliary tract carcinoma MONDO:0003090 NCIT:C7109 NCIT:C3860 extrahepatic bile duct carcinoma +MONDO:0003709 agoraphobia MONDO:0003699 NCIT:C34362 NCIT:C35420 phobic disorder MONDO:0003710 ovarian mixed germ cell neoplasm MONDO:0003408 NCIT:C8114 NCIT:C39986 ovarian primitive germ cell tumor MONDO:0003710 ovarian mixed germ cell neoplasm MONDO:0015864 NCIT:C8114 NCIT:C4290 mixed germ cell tumor +MONDO:0003712 angiokeratoma of mibelli MONDO:0003143 NCIT:C3927 NCIT:C4488 angiokeratoma +MONDO:0003713 angiokeratoma circumscriptum MONDO:0003143 NCIT:C7751 NCIT:C4488 angiokeratoma MONDO:0003714 bladder urachal squamous cell carcinoma MONDO:0002760 NCIT:C39845 NCIT:C4031 bladder squamous cell carcinoma MONDO:0003714 bladder urachal squamous cell carcinoma MONDO:0003715 NCIT:C39845 NCIT:C39842 bladder urachal carcinoma MONDO:0003715 bladder urachal carcinoma MONDO:0004986 NCIT:C39842 NCIT:C4912 urinary bladder carcinoma @@ -1438,6 +1850,10 @@ MONDO:0003720 kidney fibrosarcoma MONDO:0002930 NCIT:C7726 NCIT:C4525 kidney sar MONDO:0003721 kidney osteogenic sarcoma MONDO:0002621 NCIT:C6181 NCIT:C8810 extraosseous osteosarcoma MONDO:0003721 kidney osteogenic sarcoma MONDO:0002930 NCIT:C6181 NCIT:C4525 kidney sarcoma MONDO:0003722 internal auditory canal meningioma MONDO:0003121 NCIT:C5307 NCIT:C5586 middle cranial fossa meningioma +MONDO:0003724 non-proliferative fibrocystic change of the breast MONDO:0005219 NCIT:C6943 NCIT:C3039 breast fibrocystic disease +MONDO:0003726 apocrine adenosis of breast MONDO:0003724 NCIT:C5198 NCIT:C6943 non-proliferative fibrocystic change of the breast +MONDO:0003726 apocrine adenosis of breast MONDO:0003725 NCIT:C5198 NCIT:C3484 breast adenosis +MONDO:0003727 animal phobia MONDO:0012000 NCIT:C35273 NCIT:C35284 specific phobia MONDO:0003728 breast fibrosarcoma MONDO:0002490 NCIT:C5185 NCIT:C4670 breast sarcoma MONDO:0003729 aleukemic leukemia cutis MONDO:0003730 NCIT:C4983 NCIT:C4982 aleukemic leukemia MONDO:0003730 aleukemic leukemia MONDO:0005059 NCIT:C4982 NCIT:C3161 leukemia @@ -1453,6 +1869,7 @@ MONDO:0003734 adult central nervous system immature teratoma MONDO:0003735 NCIT: MONDO:0003735 central nervous system immature teratoma MONDO:0002718 NCIT:C7014 NCIT:C5441 central nervous system teratoma MONDO:0003737 malignant testicular Leydig cell tumor MONDO:0000377 NCIT:C39942 NCIT:C4213 malignant Leydig cell tumor MONDO:0003737 malignant testicular Leydig cell tumor MONDO:0003124 NCIT:C39942 NCIT:C6356 testicular Leydig cell tumor +MONDO:0003739 selective immunoglobulin deficiency disease MONDO:0002211 NCIT:C27870 NCIT:C4799 B cell deficiency MONDO:0003741 juvenile type testicular granulosa cell tumor MONDO:0003395 NCIT:C39947 NCIT:C6357 testicular granulosa cell tumor MONDO:0003742 heart fibrosarcoma MONDO:0003354 NCIT:C5361 NCIT:C7723 heart sarcoma MONDO:0003744 spindle cell intraocular melanoma MONDO:0006427 NCIT:C7986 NCIT:C4237 spindle cell melanoma @@ -1461,6 +1878,8 @@ MONDO:0003745 choroid spindle cell melanoma MONDO:0003744 NCIT:C6099 NCIT:C7986 MONDO:0003745 choroid spindle cell melanoma MONDO:0003878 NCIT:C6099 NCIT:C4561 malignant choroid melanoma MONDO:0003746 ciliary body spindle cell melanoma MONDO:0003912 NCIT:C6117 NCIT:C4558 malignant ciliary body melanoma MONDO:0003747 telangiectatic glomangioma MONDO:0002298 NCIT:C5345 NCIT:C6750 cutaneous glomangioma +MONDO:0003748 flying phobia MONDO:0012000 NCIT:C35413 NCIT:C35284 specific phobia +MONDO:0003749 esophageal disorder MONDO:0004335 NCIT:C3027 NCIT:C2990 digestive system disorder MONDO:0003750 childhood central nervous system germ cell tumor MONDO:0003000 NCIT:C6205 NCIT:C5461 central nervous system germ cell tumor MONDO:0003750 childhood central nervous system germ cell tumor MONDO:0003751 NCIT:C6205 NCIT:C7928 childhood germ cell tumor MONDO:0003751 childhood germ cell tumor MONDO:0005040 NCIT:C7928 NCIT:C3708 germ cell tumor @@ -1469,6 +1888,7 @@ MONDO:0003752 frontal sinus Schneiderian papilloma MONDO:0006353 NCIT:C6837 NCIT MONDO:0003752 frontal sinus Schneiderian papilloma MONDO:0021483 NCIT:C6837 NCIT:C4420 benign neoplasm of frontal sinus MONDO:0003753 nasal vestibule squamous papilloma MONDO:0001825 NCIT:C4369 NCIT:C3712 squamous papilloma MONDO:0003753 nasal vestibule squamous papilloma MONDO:0021475 NCIT:C4369 NCIT:C4603 benign neoplasm of nasal cavity +MONDO:0003754 Brown-Sequard syndrome MONDO:0002254 NCIT:C84601 NCIT:C28193 syndromic disease MONDO:0003755 urinary tract non-invasive transitional cell neoplasm MONDO:0024337 NCIT:C39854 NCIT:C39852 urothelial neoplasm MONDO:0003756 ovarian mucinous neoplasm MONDO:0002229 NCIT:C5242 NCIT:C4381 ovarian epithelial tumor MONDO:0003758 childhood testicular germ cell tumor MONDO:0010108 NCIT:C6552 NCIT:C8591 testicular germ cell tumor @@ -1480,11 +1900,14 @@ MONDO:0003760 pediatric ovarian germ cell tumor MONDO:0011366 NCIT:C8588 NCIT:C3 MONDO:0003761 leptomeningeal melanoma MONDO:0003762 NCIT:C5317 NCIT:C8506 malignant leptomeningeal tumor MONDO:0003761 leptomeningeal melanoma MONDO:0016747 NCIT:C5317 NCIT:C5505 primary melanoma of the central nervous system MONDO:0003762 malignant leptomeningeal tumor MONDO:0021322 NCIT:C8506 NCIT:C4628 malignant tumor of meninges +MONDO:0003763 acute stress disorder MONDO:0005618 NCIT:C92621 NCIT:C2878 anxiety disorder MONDO:0003764 pediatric leptomeningeal melanoma MONDO:0003761 NCIT:C5318 NCIT:C5317 leptomeningeal melanoma MONDO:0003765 adult leptomeningeal melanoma MONDO:0003761 NCIT:C5319 NCIT:C5317 leptomeningeal melanoma MONDO:0003766 thalamic cancer MONDO:0002786 NCIT:C4576 NCIT:C5126 diencephalic cancer +MONDO:0003767 mitral valve disorder MONDO:0002869 NCIT:C78446 NCIT:C45525 heart valve disorder MONDO:0003768 signet ring cell variant cervical mucinous adenocarcinoma MONDO:0002742 NCIT:C40205 NCIT:C36095 cervical mucinous adenocarcinoma MONDO:0003768 signet ring cell variant cervical mucinous adenocarcinoma MONDO:0005092 NCIT:C40205 NCIT:C3774 signet ring cell carcinoma +MONDO:0003769 herpetic gastritis MONDO:0002270 NCIT:C27341 NCIT:C27184 viral gastritis MONDO:0003770 thoracic spinal canal and spinal cord meningioma MONDO:0001279 NCIT:C5297 NCIT:C5134 intraspinal meningioma MONDO:0003773 intracerebral cystic meningioma MONDO:0003772 NCIT:C5269 NCIT:C4807 cerebral meningioma MONDO:0003774 cerebral convexity meningioma MONDO:0003772 NCIT:C4959 NCIT:C4807 cerebral meningioma @@ -1495,6 +1918,7 @@ MONDO:0003776 renal pelvis inverted papilloma MONDO:0021109 NCIT:C6187 NCIT:C619 MONDO:0003777 renal pelvis urothelial papilloma MONDO:0003717 NCIT:C4528 NCIT:C8603 renal pelvis papillary tumor MONDO:0003777 renal pelvis urothelial papilloma MONDO:0004041 NCIT:C4528 NCIT:C3842 urothelial papilloma MONDO:0003777 renal pelvis urothelial papilloma MONDO:0021467 NCIT:C4528 NCIT:C3616 benign neoplasm of renal pelvis +MONDO:0003780 T-cell immunodeficiency MONDO:0021094 NCIT:C27145 NCIT:C3131 immunodeficiency disease MONDO:0003782 uterine corpus epithelioid leiomyosarcoma MONDO:0003356 NCIT:C40174 NCIT:C3700 epithelioid leiomyosarcoma MONDO:0003782 uterine corpus epithelioid leiomyosarcoma MONDO:0016262 NCIT:C40174 NCIT:C6340 leiomyosarcoma of the corpus uteri MONDO:0003784 nasal cavity carcinoma in situ MONDO:0003212 NCIT:C4589 NCIT:C9336 nasal cavity carcinoma @@ -1516,8 +1940,10 @@ MONDO:0003801 corneal intraepithelial neoplasm MONDO:0021238 NCIT:C6093 NCIT:C43 MONDO:0003801 corneal intraepithelial neoplasm MONDO:0024475 NCIT:C6093 NCIT:C8334 squamous cell intraepithelial neoplasia MONDO:0003802 cornea cancer MONDO:0002236 NCIT:C3565 NCIT:C4767 ocular cancer MONDO:0003802 cornea cancer MONDO:0021238 NCIT:C3565 NCIT:C4361 cornea neoplasm +MONDO:0003803 aortic valve disorder MONDO:0002869 NCIT:C78650 NCIT:C45525 heart valve disorder MONDO:0003805 malignant pericardial mesothelioma MONDO:0001322 NCIT:C7631 NCIT:C4567 pericardium cancer MONDO:0003805 malignant pericardial mesothelioma MONDO:0006292 NCIT:C7631 NCIT:C4456 malignant mesothelioma +MONDO:0003806 thyroid hyalinizing trabecular adenoma MONDO:0015074 NCIT:C6846 NCIT:C3414 thyroid tumor MONDO:0003808 mediastinal extraskeletal osteosarcoma MONDO:0002621 NCIT:C6615 NCIT:C8810 extraosseous osteosarcoma MONDO:0003808 mediastinal extraskeletal osteosarcoma MONDO:0002852 NCIT:C6615 NCIT:C6606 mediastinum sarcoma MONDO:0003809 malignant mediastinum hemangiopericytoma MONDO:0009330 NCIT:C6608 NCIT:C4301 hemangiopericytoma, malignant @@ -1539,8 +1965,10 @@ MONDO:0003825 kidney oncocytoma MONDO:0010795 NCIT:C4526 NCIT:C7072 oncocytic ne MONDO:0003825 kidney oncocytoma MONDO:0036976 NCIT:C4526 NCIT:C4092 benign epithelial neoplasm MONDO:0003826 mediastinum seminoma MONDO:0003668 NCIT:C6812 NCIT:C7327 extragonadal seminoma MONDO:0003826 mediastinum seminoma MONDO:0006298 NCIT:C6812 NCIT:C6446 mediastinal malignant germ cell tumor +MONDO:0003827 transient hypogammaglobulinemia MONDO:0016463 NCIT:C27319 NCIT:C26931 syndromic agammaglobulinemia MONDO:0003829 chromophil adenoma of the kidney MONDO:0002395 NCIT:C3687 NCIT:C8383 renal adenoma MONDO:0003829 chromophil adenoma of the kidney MONDO:0002533 NCIT:C3687 NCIT:C79951 papillary adenoma +MONDO:0003832 complement deficiency MONDO:0021094 NCIT:C4691 NCIT:C3131 immunodeficiency disease MONDO:0003834 gastric cardia carcinoma MONDO:0004950 NCIT:C6794 NCIT:C4911 gastric carcinoma MONDO:0003835 gastric cardia adenocarcinoma MONDO:0003834 NCIT:C5247 NCIT:C6794 gastric cardia carcinoma MONDO:0003836 malignant thyroid stimulating hormone producing neoplasm of pituitary gland MONDO:0003837 NCIT:C5965 NCIT:C7915 TSH producing pituitary tumor @@ -1555,6 +1983,8 @@ MONDO:0003842 childhood cerebellar astrocytic neoplasm MONDO:0003263 NCIT:C6286 MONDO:0003843 cerebral hemisphere lipoma MONDO:0021497 NCIT:C6220 NCIT:C8548 benign neoplasm of cerebrum MONDO:0003844 central nervous system lipoma MONDO:0005106 NCIT:C5451 NCIT:C3192 lipoma MONDO:0003845 corpus callosum lipoma MONDO:0003843 NCIT:C5438 NCIT:C6220 cerebral hemisphere lipoma +MONDO:0003846 viral esophagitis MONDO:0001409 NCIT:C27108 NCIT:C9224 esophagitis +MONDO:0003846 viral esophagitis MONDO:0005108 NCIT:C27108 NCIT:C3439 viral infectious disease MONDO:0003849 clivus chordoma MONDO:0002892 NCIT:C5412 NCIT:C5453 skull base chordoma MONDO:0003850 clivus chondroid chordoma MONDO:0003849 NCIT:C5426 NCIT:C5412 clivus chordoma MONDO:0003850 clivus chondroid chordoma MONDO:0006145 NCIT:C5426 NCIT:C6902 chondroid chordoma @@ -1650,6 +2080,7 @@ MONDO:0003943 central nervous system hibernoma MONDO:0021168 NCIT:C6997 NCIT:C37 MONDO:0003944 endobronchial leiomyoma MONDO:0003293 NCIT:C5661 NCIT:C5660 lung leiomyoma MONDO:0003945 bone epithelioid hemangioma MONDO:0021169 NCIT:C5396 NCIT:C4298 epithelioid hemangioma MONDO:0003946 vaginal villous adenoma MONDO:0003434 NCIT:C40259 NCIT:C40256 vaginal adenoma +MONDO:0003947 hyper-IgM syndrome MONDO:0002468 NCIT:C3990 NCIT:C27579 hyperimmunoglobulin syndrome MONDO:0003948 cerebral hemangioma MONDO:0003428 NCIT:C5433 NCIT:C7739 brain hemangioma MONDO:0003948 cerebral hemangioma MONDO:0021497 NCIT:C5433 NCIT:C8548 benign neoplasm of cerebrum MONDO:0003950 nipple carcinoma MONDO:0004989 NCIT:C28432 NCIT:C4872 breast carcinoma @@ -1659,10 +2090,15 @@ MONDO:0003952 adult central nervous system choriocarcinoma MONDO:0003405 NCIT:C5 MONDO:0003952 adult central nervous system choriocarcinoma MONDO:0016740 NCIT:C5793 NCIT:C7012 choriocarcinoma of the central nervous system MONDO:0003953 pediatric CNS choriocarcinoma MONDO:0003750 NCIT:C6206 NCIT:C6205 childhood central nervous system germ cell tumor MONDO:0003953 pediatric CNS choriocarcinoma MONDO:0016740 NCIT:C6206 NCIT:C7012 choriocarcinoma of the central nervous system +MONDO:0003955 juvenile breast papillomatosis MONDO:0004253 NCIT:C9503 NCIT:C5201 intraductal breast papillomatosis MONDO:0003957 adult pineoblastoma MONDO:0003248 NCIT:C8292 NCIT:C8273 adult pineal parenchymal tumor MONDO:0003957 adult pineoblastoma MONDO:0016722 NCIT:C8292 NCIT:C9344 pineoblastoma MONDO:0003958 childhood central nervous system immature teratoma MONDO:0003735 NCIT:C27405 NCIT:C7014 central nervous system immature teratoma +MONDO:0003959 breast large cell neuroendocrine carcinoma MONDO:0005057 NCIT:C40356 NCIT:C6875 large cell neuroendocrine carcinoma MONDO:0003960 pulmonary large cell neuroendocrine carcinoma MONDO:0005057 NCIT:C5672 NCIT:C6875 large cell neuroendocrine carcinoma +MONDO:0003962 Froelich syndrome MONDO:0002254 NCIT:C34625 NCIT:C28193 syndromic disease +MONDO:0003963 diffuse infiltrative lymphocytosis syndrome MONDO:0002254 NCIT:C35699 NCIT:C28193 syndromic disease +MONDO:0003965 Capgras syndrome MONDO:0002254 NCIT:C34446 NCIT:C28193 syndromic disease MONDO:0003966 testicular monophasic choriocarcinoma MONDO:0003508 NCIT:C39935 NCIT:C7733 choriocarcinoma of testis MONDO:0003967 synchronous multifocal osteogenic sarcoma MONDO:0002622 NCIT:C6471 NCIT:C6470 multifocal osteogenic sarcoma MONDO:0003968 asynchronous multifocal osteogenic sarcoma MONDO:0002622 NCIT:C6472 NCIT:C6470 multifocal osteogenic sarcoma @@ -1698,6 +2134,7 @@ MONDO:0003997 colon Kaposi sarcoma MONDO:0003352 NCIT:C5516 NCIT:C5495 colon sar MONDO:0003997 colon Kaposi sarcoma MONDO:0024659 NCIT:C5516 NCIT:C96510 colorectal Kaposi sarcoma MONDO:0003999 juvenile pilocytic astrocytoma MONDO:0004000 NCIT:C27081 NCIT:C4048 childhood pilocytic astrocytoma MONDO:0004000 childhood pilocytic astrocytoma MONDO:0016691 NCIT:C4048 NCIT:C4047 pilocytic astrocytoma +MONDO:0004001 compartment syndrome MONDO:0002254 NCIT:C118422 NCIT:C28193 syndromic disease MONDO:0004005 rete ovarii adenoma MONDO:0003192 NCIT:C40018 NCIT:C40016 rete ovarii neoplasm MONDO:0004005 rete ovarii adenoma MONDO:0024276 NCIT:C40018 NCIT:C7132 glandular cell neoplasm MONDO:0004006 rete ovarii cystadenofibroma MONDO:0003192 NCIT:C40020 NCIT:C40016 rete ovarii neoplasm @@ -1717,10 +2154,12 @@ MONDO:0004017 pineal region immature teratoma MONDO:0003735 NCIT:C6755 NCIT:C701 MONDO:0004017 pineal region immature teratoma MONDO:0004015 NCIT:C6755 NCIT:C6753 pineal region teratoma MONDO:0004019 oxyphilic endometrial endometrioid adenocarcinoma MONDO:0006192 NCIT:C27849 NCIT:C6287 endometrial endometrioid adenocarcinoma MONDO:0004020 mediastinal gray zone lymphoma MONDO:0003658 NCIT:C37870 NCIT:C37869 B-cell lymphoma, unclassifiable, with features intermediate between diffuse large b-cell lymphoma and classical Hodgkin lymphoma +MONDO:0004020 mediastinal gray zone lymphoma MONDO:0004021 NCIT:C37870 NCIT:C6633 mediastinal malignant lymphoma MONDO:0004021 mediastinal malignant lymphoma MONDO:0005843 NCIT:C6633 NCIT:C3549 mediastinal cancer MONDO:0004022 parasagittal meningioma MONDO:0003772 NCIT:C4960 NCIT:C4807 cerebral meningioma MONDO:0004024 spinal cord neuroblastoma MONDO:0002749 NCIT:C5155 NCIT:C5437 extracranial neuroblastoma MONDO:0004024 spinal cord neuroblastoma MONDO:0003544 NCIT:C5155 NCIT:C3572 spinal cord cancer +MONDO:0004026 skin tag MONDO:0060765 NCIT:C3374 NCIT:C3337 fibroepithelial polyp MONDO:0004028 small intestinal fibrosarcoma MONDO:0003361 NCIT:C5336 NCIT:C5335 small intestinal sarcoma MONDO:0004030 ureter transitional cell carcinoma MONDO:0006481 NCIT:C4830 NCIT:C8993 ureter carcinoma MONDO:0004030 ureter transitional cell carcinoma MONDO:0020654 NCIT:C4830 NCIT:C7716 renal pelvis/ureter urothelial carcinoma @@ -1730,6 +2169,7 @@ MONDO:0004040 urinary bladder inverted papilloma MONDO:0021109 NCIT:C39859 NCIT: MONDO:0004040 urinary bladder inverted papilloma MONDO:0044906 NCIT:C39859 NCIT:C39858 bladder urothelial papilloma MONDO:0004041 urothelial papilloma MONDO:0003443 NCIT:C3842 NCIT:C27883 papillary urothelial neoplasm MONDO:0004041 urothelial papilloma MONDO:0003755 NCIT:C3842 NCIT:C39854 urinary tract non-invasive transitional cell neoplasm +MONDO:0004041 urothelial papilloma MONDO:0004180 NCIT:C3842 NCIT:C4893 benign urinary system neoplasm MONDO:0004041 urothelial papilloma MONDO:0005605 NCIT:C3842 NCIT:C4115 transitional cell papilloma MONDO:0004042 urethra inverted papilloma MONDO:0002221 NCIT:C6173 NCIT:C5061 urethral urothelial papilloma MONDO:0004042 urethra inverted papilloma MONDO:0021109 NCIT:C6173 NCIT:C6192 inverted urothelial papilloma @@ -1806,6 +2246,7 @@ MONDO:0004107 splenic manifestation of leukemia MONDO:0005966 NCIT:C7296 NCIT:C3 MONDO:0004109 epiglottis neoplasm MONDO:0004427 NCIT:C4933 NCIT:C6793 supraglottis neoplasm MONDO:0004110 refractory hairy cell leukemia MONDO:0018935 NCIT:C8030 NCIT:C7402 hairy cell leukemia MONDO:0004111 refractory hematologic cancer MONDO:0044881 NCIT:C27357 NCIT:C27134 hematopoietic and lymphoid cell neoplasm +MONDO:0004112 radiation cystitis MONDO:0006032 NCIT:C123174 NCIT:C26738 cystitis MONDO:0004120 Bartholin gland small cell carcinoma MONDO:0002829 NCIT:C40298 NCIT:C9055 bartholin gland carcinoma MONDO:0004122 thymus small cell carcinoma MONDO:0020516 NCIT:C6460 NCIT:C171031 thymic neuroendocrine carcinoma MONDO:0004124 prostate stromal sarcoma MONDO:0002854 NCIT:C5524 NCIT:C7731 prostate sarcoma @@ -1821,6 +2262,7 @@ MONDO:0004131 anal verrucous carcinoma MONDO:0006082 NCIT:C7470 NCIT:C9161 anal MONDO:0004132 anal canal squamous cell carcinoma MONDO:0006082 NCIT:C7469 NCIT:C9161 anal squamous cell carcinoma MONDO:0004132 anal canal squamous cell carcinoma MONDO:0007108 NCIT:C7469 NCIT:C7489 anal canal carcinoma MONDO:0004136 ovarian endometrioid cystadenoma MONDO:0005183 NCIT:C40075 NCIT:C4060 ovarian cystadenoma +MONDO:0004139 normocytic anemia MONDO:0002280 NCIT:C35142 NCIT:C2869 anemia MONDO:0004141 melanomatosis MONDO:0005105 NCIT:C9499 NCIT:C3224 melanoma MONDO:0004142 lung combined large cell neuroendocrine carcinoma MONDO:0003960 NCIT:C7267 NCIT:C5672 pulmonary large cell neuroendocrine carcinoma MONDO:0004142 lung combined large cell neuroendocrine carcinoma MONDO:0006167 NCIT:C7267 NCIT:C7591 combined lung carcinoma @@ -1838,19 +2280,26 @@ MONDO:0004162 uterine corpus cellular leiomyoma MONDO:0007886 NCIT:C40163 NCIT:C MONDO:0004163 bladder urachal urothelial carcinoma MONDO:0003715 NCIT:C39844 NCIT:C39842 bladder urachal carcinoma MONDO:0004163 bladder urachal urothelial carcinoma MONDO:0005611 NCIT:C39844 NCIT:C39851 bladder transitional cell carcinoma MONDO:0004164 lymphoepithelioma-like acinar prostate adenocarcinoma MONDO:0002493 NCIT:C39885 NCIT:C5596 prostatic acinar adenocarcinoma +MONDO:0004165 selective IgD deficiency disease MONDO:0003739 NCIT:C27144 NCIT:C27870 selective immunoglobulin deficiency disease MONDO:0004166 hereditary fallopian tube carcinoma MONDO:0006206 NCIT:C40455 NCIT:C3867 fallopian tube carcinoma MONDO:0004168 cribriform variant testicular seminoma MONDO:0003669 NCIT:C40957 NCIT:C7328 testicular seminoma MONDO:0004174 secretory uterine corpus endometrioid adenocarcinoma MONDO:0006192 NCIT:C27839 NCIT:C6287 endometrial endometrioid adenocarcinoma MONDO:0004176 childhood extraosseous osteosarcoma MONDO:0002621 NCIT:C27376 NCIT:C8810 extraosseous osteosarcoma MONDO:0004176 childhood extraosseous osteosarcoma MONDO:0002623 NCIT:C27376 NCIT:C6585 pediatric osteosarcoma +MONDO:0004177 benign urethral neoplasm MONDO:0004180 NCIT:C3619 NCIT:C4893 benign urinary system neoplasm MONDO:0004177 benign urethral neoplasm MONDO:0021239 NCIT:C3619 NCIT:C3428 urethra neoplasm MONDO:0004178 testicular yolk sac tumor, endodermal sinus pattern MONDO:0003402 NCIT:C39927 NCIT:C8000 testicular yolk sac tumor MONDO:0004180 benign urinary system neoplasm MONDO:0021066 NCIT:C4893 NCIT:C3431 urinary system neoplasm +MONDO:0004181 breast adenomyoepithelial adenosis MONDO:0003725 NCIT:C40391 NCIT:C3484 breast adenosis +MONDO:0004183 axonal neuropathy MONDO:0005244 NCIT:C27301 NCIT:C4731 peripheral neuropathy +MONDO:0004184 urethral disorder MONDO:0002118 NCIT:C26903 NCIT:C3430 urinary system disorder MONDO:0004185 ovarian serous cystadenofibroma MONDO:0003464 NCIT:C40032 NCIT:C8985 cystadenofibroma MONDO:0004185 ovarian serous cystadenofibroma MONDO:0006340 NCIT:C40032 NCIT:C40031 ovarian serous adenofibroma MONDO:0004186 cranial nodular fasciitis MONDO:0004187 NCIT:C27248 NCIT:C3827 nodular fasciitis MONDO:0004188 iris spindle cell melanoma MONDO:0003744 NCIT:C6098 NCIT:C7986 spindle cell intraocular melanoma MONDO:0004188 iris spindle cell melanoma MONDO:0004064 NCIT:C6098 NCIT:C9088 iris melanoma +MONDO:0004190 nephrogenic adenoma of urinary bladder MONDO:0004191 NCIT:C7415 NCIT:C7413 nephrogenic adenoma +MONDO:0004192 urethra cancer MONDO:0006295 NCIT:C7507 NCIT:C9297 malignant urinary system neoplasm MONDO:0004192 urethra cancer MONDO:0021239 NCIT:C7507 NCIT:C3428 urethra neoplasm MONDO:0004193 pediatric ovarian dysgerminoma MONDO:0003481 NCIT:C6550 NCIT:C8106 dysgerminoma of ovary MONDO:0004196 rectal sarcomatoid carcinoma MONDO:0044937 NCIT:C5556 NCIT:C9382 rectal carcinoma @@ -1859,6 +2308,8 @@ MONDO:0004198 testicular yolk sac tumor, solid pattern MONDO:0003402 NCIT:C39925 MONDO:0004199 vulvar keratinizing squamous cell carcinoma MONDO:0005056 NCIT:C40284 NCIT:C4105 keratinizing squamous cell carcinoma MONDO:0004199 vulvar keratinizing squamous cell carcinoma MONDO:0024609 NCIT:C40284 NCIT:C4052 vulvar squamous cell carcinoma MONDO:0004203 female urethral cancer MONDO:0004192 NCIT:C39866 NCIT:C7507 urethra cancer +MONDO:0004204 squamous cell skin papilloma MONDO:0001825 NCIT:C4462 NCIT:C3712 squamous papilloma +MONDO:0004204 squamous cell skin papilloma MONDO:0002536 NCIT:C4462 NCIT:C4614 skin papilloma MONDO:0004205 lymphohistiocytoid mesothelioma MONDO:0006407 NCIT:C27779 NCIT:C45655 sarcomatoid mesothelioma MONDO:0004209 cerebral primitive neuroectodermal tumor MONDO:0002731 NCIT:C4970 NCIT:C4577 cerebral hemisphere cancer MONDO:0004209 cerebral primitive neuroectodermal tumor MONDO:0003145 NCIT:C4970 NCIT:C6968 supratentorial primitive neuroectodermal tumor @@ -1877,8 +2328,10 @@ MONDO:0004220 endometrial endometrioid adenocarcinoma with spindled epithelial c MONDO:0004221 uterine corpus perivascular epithelioid cell tumor MONDO:0006359 NCIT:C40180 NCIT:C38150 neoplasm with perivascular epithelioid cell differentiation MONDO:0004222 ovarian clear cell cystadenocarcinoma MONDO:0002702 NCIT:C7980 NCIT:C5228 ovarian cystadenocarcinoma MONDO:0004222 ovarian clear cell cystadenocarcinoma MONDO:0006045 NCIT:C7980 NCIT:C40078 ovarian clear cell adenocarcinoma +MONDO:0004224 chronic metabolic polyneuropathy MONDO:0003335 NCIT:C35602 NCIT:C36071 chronic polyneuropathy MONDO:0004227 epididymal adenomatoid tumor MONDO:0021473 NCIT:C6382 NCIT:C3614 benign neoplasm of epididymis MONDO:0004229 acantholytic variant squamous cell breast carcinoma MONDO:0006056 NCIT:C40359 NCIT:C5177 squamous cell breast carcinoma +MONDO:0004230 adenomatoid tumor MONDO:0005065 NCIT:C3762 NCIT:C3234 mesothelioma MONDO:0004231 spindle cell variant squamous cell breast carcinoma MONDO:0006056 NCIT:C40358 NCIT:C5177 squamous cell breast carcinoma MONDO:0004231 spindle cell variant squamous cell breast carcinoma MONDO:0021663 NCIT:C40358 NCIT:C27084 sarcomatoid squamous cell carcinoma MONDO:0004232 large cell keratinizing variant squamous cell breast carcinoma MONDO:0005056 NCIT:C40357 NCIT:C4105 keratinizing squamous cell carcinoma @@ -1908,12 +2361,14 @@ MONDO:0004261 periductal breast myoepitheliosis MONDO:0004262 NCIT:C40388 NCIT:C MONDO:0004262 breast myoepitheliosis MONDO:0002483 NCIT:C40385 NCIT:C40389 breast myoepithelial tumor MONDO:0004263 pediatric infratentorial ependymoblastoma MONDO:0002915 NCIT:C6773 NCIT:C5802 childhood infratentorial neoplasm MONDO:0004263 pediatric infratentorial ependymoblastoma MONDO:0003107 NCIT:C6773 NCIT:C4966 infratentorial cancer +MONDO:0004265 acute endometritis MONDO:0000918 NCIT:C27022 NCIT:C26764 endometritis MONDO:0004267 squamous papillomatosis MONDO:0021098 NCIT:C9009 NCIT:C3713 papillomatosis MONDO:0004270 breast ductal adenoma MONDO:0002058 NCIT:C40384 NCIT:C40382 breast adenoma MONDO:0004273 breast apocrine adenoma MONDO:0002058 NCIT:C40383 NCIT:C40382 breast adenoma MONDO:0004274 mixed epithelial/mesenchymal metaplastic breast carcinoma MONDO:0006043 NCIT:C40364 NCIT:C5164 metaplastic breast carcinoma MONDO:0004276 ceruminoma MONDO:0002804 NCIT:C6088 NCIT:C4168 apocrine adenoma MONDO:0004278 infiltrating bladder urothelial carcinoma sarcomatoid variant MONDO:0003890 NCIT:C39824 NCIT:C27885 infiltrating bladder urothelial carcinoma +MONDO:0004279 glossopharyngeal motor neuropathy MONDO:0002316 NCIT:C27212 NCIT:C3500 motor peripheral neuropathy MONDO:0004281 vulvar eccrine porocarcinoma MONDO:0003861 NCIT:C40306 NCIT:C40305 vulvar eccrine adenocarcinoma MONDO:0004281 vulvar eccrine porocarcinoma MONDO:0006189 NCIT:C40306 NCIT:C5560 eccrine porocarcinoma MONDO:0004283 vulvar clear cell hidradenocarcinoma MONDO:0006245 NCIT:C40307 NCIT:C54664 hidradenocarcinoma @@ -1936,6 +2391,8 @@ MONDO:0004296 cervical lymphoepithelioma-like carcinoma MONDO:0003572 NCIT:C4019 MONDO:0004296 cervical lymphoepithelioma-like carcinoma MONDO:0006143 NCIT:C40193 NCIT:C4028 cervical squamous cell carcinoma MONDO:0004297 lymphoepithelioma-like thymic carcinoma MONDO:0003572 NCIT:C7998 NCIT:C4107 nasopharyngeal type undifferentiated carcinoma MONDO:0004297 lymphoepithelioma-like thymic carcinoma MONDO:0006451 NCIT:C7998 NCIT:C7569 thymic carcinoma +MONDO:0004298 stomach disorder MONDO:0004335 NCIT:C26886 NCIT:C2990 digestive system disorder +MONDO:0004299 infiltrating bladder lymphoepithelioma-like carcinoma MONDO:0003572 NCIT:C39821 NCIT:C4107 nasopharyngeal type undifferentiated carcinoma MONDO:0004299 infiltrating bladder lymphoepithelioma-like carcinoma MONDO:0003890 NCIT:C39821 NCIT:C27885 infiltrating bladder urothelial carcinoma MONDO:0004301 fibrosarcomatous osteosarcoma MONDO:0002631 NCIT:C4020 NCIT:C35870 conventional osteosarcoma MONDO:0004302 chief cell adenoma MONDO:0006890 NCIT:C4154 NCIT:C156757 parathyroid gland adenoma @@ -1945,6 +2402,7 @@ MONDO:0004304 mixed cell type adenoma of parathyroid MONDO:0003421 NCIT:C7994 NC MONDO:0004304 mixed cell type adenoma of parathyroid MONDO:0006890 NCIT:C7994 NCIT:C156757 parathyroid gland adenoma MONDO:0004305 parathyroid oncocytic adenoma MONDO:0003424 NCIT:C27393 NCIT:C3759 oncocytic adenoma MONDO:0004305 parathyroid oncocytic adenoma MONDO:0006890 NCIT:C27393 NCIT:C156757 parathyroid gland adenoma +MONDO:0004306 childhood intracortical osteosarcoma MONDO:0002623 NCIT:C6590 NCIT:C6585 pediatric osteosarcoma MONDO:0004306 childhood intracortical osteosarcoma MONDO:0002631 NCIT:C6590 NCIT:C35870 conventional osteosarcoma MONDO:0004307 sarcomatosis of the meninges MONDO:0004308 NCIT:C4334 NCIT:C4073 meningeal sarcoma MONDO:0004307 sarcomatosis of the meninges MONDO:0004309 NCIT:C4334 NCIT:C4243 sarcomatosis @@ -1987,6 +2445,7 @@ MONDO:0004341 colloid carcinoma of the pancreas MONDO:0005184 NCIT:C37214 NCIT:C MONDO:0004343 pancreatic acinar cell cystadenocarcinoma MONDO:0002867 NCIT:C5727 NCIT:C3874 pancreatic cystadenocarcinoma MONDO:0004343 pancreatic acinar cell cystadenocarcinoma MONDO:0006346 NCIT:C5727 NCIT:C7977 pancreatic acinar cell carcinoma MONDO:0004344 childhood malignant hemangiopericytoma MONDO:0009330 NCIT:C8090 NCIT:C4301 hemangiopericytoma, malignant +MONDO:0004345 childhood malignant schwannoma MONDO:0006517 NCIT:C8094 NCIT:C4005 childhood malignant neoplasm MONDO:0004345 childhood malignant schwannoma MONDO:0017827 NCIT:C8094 NCIT:C3798 malignant peripheral nerve sheath tumor MONDO:0004346 signet ring cell intrahepatic cholangiocarcinoma MONDO:0003210 NCIT:C41619 NCIT:C35417 intrahepatic cholangiocarcinoma MONDO:0004349 retina lymphoma MONDO:0003072 NCIT:C4365 NCIT:C3216 retinal cancer @@ -2012,8 +2471,10 @@ MONDO:0004367 petroclival meningioma MONDO:0002998 NCIT:C5278 NCIT:C5272 skull b MONDO:0004368 sphenoorbital meningioma MONDO:0002998 NCIT:C5285 NCIT:C5272 skull base meningioma MONDO:0004370 sphenocavernous meningioma MONDO:0002998 NCIT:C5313 NCIT:C5272 skull base meningioma MONDO:0004371 spinal multifocal clear cell meningioma MONDO:0002918 NCIT:C5287 NCIT:C4722 clear cell meningioma +MONDO:0004372 chronic toxic polyneuropathy MONDO:0003335 NCIT:C35603 NCIT:C36071 chronic polyneuropathy MONDO:0004373 adult papillary meningioma MONDO:0021088 NCIT:C8293 NCIT:C3904 papillary meningioma MONDO:0004374 adult extraskeletal osteosarcoma MONDO:0002621 NCIT:C7925 NCIT:C8810 extraosseous osteosarcoma +MONDO:0004375 end stage renal failure MONDO:0005300 NCIT:C9439 NCIT:C80078 chronic kidney disease MONDO:0004377 pancreatic non-functioning delta cell tumor MONDO:0002994 NCIT:C28333 NCIT:C28396 pancreatic delta cell neuroendocrine tumor MONDO:0004377 pancreatic non-functioning delta cell tumor MONDO:0004334 NCIT:C28333 NCIT:C45837 non-functional pancreatic neuroendocrine tumor MONDO:0004379 female breast carcinoma MONDO:0004989 NCIT:C2918 NCIT:C4872 breast carcinoma @@ -2023,6 +2484,8 @@ MONDO:0004383 adult central nervous system germinoma MONDO:0003405 NCIT:C5792 NC MONDO:0004384 maxillary sinus inverted papilloma MONDO:0004457 NCIT:C6840 NCIT:C6839 maxillary sinus Schneiderian papilloma MONDO:0004386 uterine corpus atypical polypoid adenomyoma MONDO:0003236 NCIT:C40235 NCIT:C6895 atypical polypoid adenomyoma MONDO:0004386 uterine corpus atypical polypoid adenomyoma MONDO:0003237 NCIT:C40235 NCIT:C6338 adenomyoma of uterine corpus +MONDO:0004387 luteoma of pregnancy MONDO:0024575 NCIT:C40445 NCIT:C35169 pregnancy disorder +MONDO:0004392 intracranial extraskeletal myxoid chondrosarcoma MONDO:0002217 NCIT:C5462 NCIT:C5153 central nervous system sarcoma MONDO:0004392 intracranial extraskeletal myxoid chondrosarcoma MONDO:0012825 NCIT:C5462 NCIT:C27502 extraskeletal myxoid chondrosarcoma MONDO:0004393 mixed astrocytoma-ependymoma MONDO:0003268 NCIT:C8271 NCIT:C3903 mixed glioma MONDO:0004394 maxillary sinus squamous cell carcinoma MONDO:0001748 NCIT:C6064 NCIT:C9332 maxillary sinus carcinoma @@ -2045,10 +2508,12 @@ MONDO:0004408 schwannian stroma-rich and stroma-poor composite ganglioneuroblast MONDO:0004410 sarcomatoid penile squamous cell carcinoma MONDO:0021663 NCIT:C6984 NCIT:C27084 sarcomatoid squamous cell carcinoma MONDO:0004411 duodenal gastrin-producing neuroendocrine tumor MONDO:0015063 NCIT:C5731 NCIT:C135080 duodenal neuroendocrine tumor, well differentiated, low or intermediate grade MONDO:0004413 cervical non-keratinizing squamous cell carcinoma MONDO:0006143 NCIT:C40188 NCIT:C4028 cervical squamous cell carcinoma +MONDO:0004414 tamoxifen-related endometrial lesion MONDO:0000931 NCIT:C40159 NCIT:C3504 endometrial disorder MONDO:0004415 lipid-cell variant infiltrating bladder urothelial carcinoma MONDO:0003890 NCIT:C39828 NCIT:C27885 infiltrating bladder urothelial carcinoma MONDO:0004416 plasmacytoid variant infiltrating bladder urothelial carcinoma MONDO:0003890 NCIT:C39823 NCIT:C27885 infiltrating bladder urothelial carcinoma MONDO:0004417 nested variant infiltrating bladder urothelial carcinoma MONDO:0003890 NCIT:C39819 NCIT:C27885 infiltrating bladder urothelial carcinoma MONDO:0004418 microcystic variant infiltrating bladder urothelial carcinoma MONDO:0003890 NCIT:C39820 NCIT:C27885 infiltrating bladder urothelial carcinoma +MONDO:0004419 lymphoma-like variant infiltrating bladder urothelial carcinoma MONDO:0003890 NCIT:C39822 NCIT:C27885 infiltrating bladder urothelial carcinoma MONDO:0004420 breast malignant eccrine spiradenoma MONDO:0004412 NCIT:C5180 NCIT:C5117 malignant spiradenoma MONDO:0004421 sclerosing breast papilloma MONDO:0021097 NCIT:C27944 NCIT:C3863 intraductal breast papilloma MONDO:0004422 cerebral falx meningioma MONDO:0002997 NCIT:C5267 NCIT:C5286 anterior cranial fossa meningioma @@ -2057,9 +2522,9 @@ MONDO:0004423 central nervous system extraskeletal osteosarcoma MONDO:0002621 NC MONDO:0004426 frontal convexity meningioma MONDO:0003774 NCIT:C5292 NCIT:C4959 cerebral convexity meningioma MONDO:0004427 supraglottis neoplasm MONDO:0021071 NCIT:C6793 NCIT:C3156 laryngeal neoplasm MONDO:0004428 alveoli adenoma MONDO:0003422 NCIT:C4140 NCIT:C4455 lung adenoma -MONDO:0004430 penis mixed squamous cell carcinoma MONDO:0018352 NCIT:C39959 NCIT:C7729 squamous cell carcinoma of penis MONDO:0004432 mature pericardial teratoma MONDO:0003517 NCIT:C6744 NCIT:C9015 mature teratoma MONDO:0004433 papillary carcinoma of the penis MONDO:0002979 NCIT:C6983 NCIT:C4102 papillary squamous carcinoma +MONDO:0004433 papillary carcinoma of the penis MONDO:0018352 NCIT:C6983 NCIT:C7729 squamous cell carcinoma of penis MONDO:0004435 liver fibrosarcoma MONDO:0002397 NCIT:C5832 NCIT:C4437 liver sarcoma MONDO:0004436 ovarian myxoid liposarcoma MONDO:0003589 NCIT:C5235 NCIT:C6419 liposarcoma of the ovary MONDO:0004436 ovarian myxoid liposarcoma MONDO:0013280 NCIT:C5235 NCIT:C27781 myxoid liposarcoma @@ -2090,12 +2555,14 @@ MONDO:0004460 thyroid gland fetal adenoma MONDO:0005032 NCIT:C4160 NCIT:C3502 fo MONDO:0004461 vaginal tubulovillous adenoma MONDO:0003434 NCIT:C40258 NCIT:C40256 vaginal adenoma MONDO:0004462 extrahepatic bile duct cystadenoma MONDO:0003420 NCIT:C5851 NCIT:C4129 bile duct cystadenoma MONDO:0004463 cellular phase chronic idiopathic myelofibrosis MONDO:0009692 NCIT:C41237 NCIT:C2862 primary myelofibrosis +MONDO:0004464 nephrogenic adenoma of the urethra MONDO:0004191 NCIT:C7416 NCIT:C7413 nephrogenic adenoma MONDO:0004467 mature gastric teratoma MONDO:0003513 NCIT:C5260 NCIT:C5259 gastric teratoma MONDO:0004467 mature gastric teratoma MONDO:0003517 NCIT:C5260 NCIT:C9015 mature teratoma MONDO:0004468 anal canal Paget disease MONDO:0002651 NCIT:C7477 NCIT:C5598 anal Paget disease MONDO:0004468 anal canal Paget disease MONDO:0002735 NCIT:C7477 NCIT:C7471 anal canal adenocarcinoma MONDO:0004469 pseudovascular skin squamous cell carcinoma MONDO:0002529 NCIT:C27542 NCIT:C4819 skin squamous cell carcinoma MONDO:0004469 pseudovascular skin squamous cell carcinoma MONDO:0005056 NCIT:C27542 NCIT:C4105 keratinizing squamous cell carcinoma +MONDO:0004471 bacterial arthritis MONDO:0042485 NCIT:C26699 NCIT:C26700 infective arthritis MONDO:0004472 breast columnar cell mucinous carcinoma MONDO:0002707 NCIT:C40355 NCIT:C9131 breast mucinous carcinoma MONDO:0004473 epiglottis cancer MONDO:0004109 NCIT:C4836 NCIT:C4933 epiglottis neoplasm MONDO:0004473 epiglottis cancer MONDO:0004357 NCIT:C35697 NCIT:C5973 carcinoma of supraglottis @@ -2113,6 +2580,7 @@ MONDO:0004483 thyroid gland oncocytic adenoma MONDO:0003424 NCIT:C6042 NCIT:C375 MONDO:0004483 thyroid gland oncocytic adenoma MONDO:0005032 NCIT:C6042 NCIT:C3502 follicular thyroid adenoma MONDO:0004484 gallbladder melanoma MONDO:0005411 NCIT:C5735 NCIT:C7481 gallbladder cancer MONDO:0004484 gallbladder melanoma MONDO:0045070 NCIT:C5735 NCIT:C7091 digestive system melanoma +MONDO:0004485 interstitial myocarditis MONDO:0004496 NCIT:C35786 NCIT:C34831 myocarditis MONDO:0004486 endocervical type cervical adenomyoma MONDO:0003238 NCIT:C40232 NCIT:C40231 cervical adenomyoma MONDO:0004487 endometrial type cervical adenomyoma MONDO:0003238 NCIT:C40233 NCIT:C40231 cervical adenomyoma MONDO:0004488 cervical atypical polypoid adenomyoma MONDO:0003238 NCIT:C40234 NCIT:C40231 cervical adenomyoma @@ -2120,6 +2588,10 @@ MONDO:0004489 fallopian tube gestational choriocarcinoma MONDO:0006206 NCIT:C627 MONDO:0004489 fallopian tube gestational choriocarcinoma MONDO:0020550 NCIT:C6278 NCIT:C4646 gestational choriocarcinoma MONDO:0004493 testicular yolk sac tumor, papillary pattern MONDO:0003402 NCIT:C39928 NCIT:C8000 testicular yolk sac tumor MONDO:0004494 testicular yolk sac tumor, hepatoid pattern MONDO:0003402 NCIT:C39931 NCIT:C8000 testicular yolk sac tumor +MONDO:0004495 myotonic cataract MONDO:0005129 NCIT:C34833 NCIT:C26713 cataract +MONDO:0004495 myotonic cataract MONDO:0016107 NCIT:C34833 NCIT:C84914 myotonic dystrophy +MONDO:0004496 myocarditis MONDO:0024643 NCIT:C34831 NCIT:C35544 myocardial disorder +MONDO:0004497 tertiary syphilis MONDO:0005976 NCIT:C128414 NCIT:C35055 syphilis MONDO:0004498 sacral spinal canal and spinal cord meningioma MONDO:0001279 NCIT:C5299 NCIT:C5134 intraspinal meningioma MONDO:0004499 lung hilum carcinoma MONDO:0004332 NCIT:C7454 NCIT:C4566 lung hilum cancer MONDO:0004499 lung hilum carcinoma MONDO:0005138 NCIT:C7454 NCIT:C4878 lung carcinoma @@ -2136,17 +2608,23 @@ MONDO:0004510 inflammatory liposarcoma MONDO:0006097 NCIT:C6508 NCIT:C6505 atypi MONDO:0004511 lower clivus meningioma MONDO:0003908 NCIT:C5288 NCIT:C5289 clivus meningioma MONDO:0004512 meningeal melanomatosis MONDO:0004141 NCIT:C6891 NCIT:C9499 melanomatosis MONDO:0004513 adult pleomorphic rhabdomyosarcoma MONDO:0017386 NCIT:C27369 NCIT:C4258 pleomorphic rhabdomyosarcoma +MONDO:0004514 chronic rhinitis MONDO:0003014 NCIT:C34479 NCIT:C34986 rhinitis MONDO:0004516 bulbomembranous urethral cancer MONDO:0004197 NCIT:C39869 NCIT:C39867 male urethral cancer MONDO:0004518 anterior urethra cancer MONDO:0004192 NCIT:C7641 NCIT:C7507 urethra cancer MONDO:0004519 synovial angioma MONDO:0006500 NCIT:C6525 NCIT:C3085 hemangioma MONDO:0004519 synovial angioma MONDO:0024715 NCIT:C6525 NCIT:C3829 benign synovial neoplasm +MONDO:0004520 intratubular embryonal carcinoma MONDO:0006446 NCIT:C7325 NCIT:C6341 testicular embryonal carcinoma MONDO:0004521 adult epithelioid sarcoma MONDO:0017387 NCIT:C7944 NCIT:C3714 epithelioid sarcoma MONDO:0004523 clear cell squamous cell skin carcinoma MONDO:0002529 NCIT:C4459 NCIT:C4819 skin squamous cell carcinoma MONDO:0004523 clear cell squamous cell skin carcinoma MONDO:0005056 NCIT:C4459 NCIT:C4105 keratinizing squamous cell carcinoma +MONDO:0004525 scabies MONDO:0021201 NCIT:C34998 NCIT:C35025 skin infection MONDO:0004528 lymph node palisaded myofibroblastoma MONDO:0040675 NCIT:C6584 NCIT:C49012 myofibroblastoma MONDO:0004529 non-ossifying fibromyxoid tumor MONDO:0037745 NCIT:C6583 NCIT:C66760 fibromyxoid tumor MONDO:0004530 early invasive cervical adenocarcinoma MONDO:0005153 NCIT:C36096 NCIT:C4029 cervical adenocarcinoma +MONDO:0004531 sclerosing adenosis of breast MONDO:0002585 NCIT:C5205 NCIT:C6940 breast fibrocystic change, proliferative type +MONDO:0004531 sclerosing adenosis of breast MONDO:0003725 NCIT:C5205 NCIT:C3484 breast adenosis MONDO:0004533 perineural angioma MONDO:0003096 NCIT:C6526 NCIT:C6555 deep hemangioma +MONDO:0004534 microglandular adenosis of breast MONDO:0003725 NCIT:C5199 NCIT:C3484 breast adenosis MONDO:0004535 childhood choriocarcinoma of the ovary MONDO:0004322 NCIT:C6549 NCIT:C39991 non-gestational ovarian choriocarcinoma MONDO:0004537 intestinal variant cervical mucinous adenocarcinoma MONDO:0002742 NCIT:C40203 NCIT:C36095 cervical mucinous adenocarcinoma MONDO:0004537 intestinal variant cervical mucinous adenocarcinoma MONDO:0006254 NCIT:C40203 NCIT:C4126 intestinal type adenocarcinoma @@ -2167,21 +2645,30 @@ MONDO:0004554 childhood kidney angiomyolipoma MONDO:0002730 NCIT:C6565 NCIT:C656 MONDO:0004554 childhood kidney angiomyolipoma MONDO:0004555 NCIT:C6565 NCIT:C3888 kidney angiomyolipoma MONDO:0004555 kidney angiomyolipoma MONDO:0002603 NCIT:C3888 NCIT:C3734 angiomyolipoma MONDO:0004556 carcinoma arising in nasal papillomatosis MONDO:0003212 NCIT:C27389 NCIT:C9336 nasal cavity carcinoma -MONDO:0004557 congenital fibrosarcoma MONDO:0002678 NCIT:C4244 NCIT:C8088 pediatric fibrosarcoma MONDO:0004558 thyroid gland macrofollicular adenoma MONDO:0005032 NCIT:C4161 NCIT:C3502 follicular thyroid adenoma MONDO:0004559 malignant glandular tumor of peripheral nerve sheath MONDO:0017827 NCIT:C6560 NCIT:C3798 malignant peripheral nerve sheath tumor MONDO:0004561 retinal melanoma MONDO:0003072 NCIT:C8601 NCIT:C3216 retinal cancer MONDO:0004561 retinal melanoma MONDO:0006325 NCIT:C8601 NCIT:C8562 ocular melanoma +MONDO:0004568 paralytic ileus MONDO:0004567 NCIT:C93045 NCIT:C37979 ileus +MONDO:0004574 pyridoxine deficiency anemia MONDO:0042976 NCIT:C85221 NCIT:C35129 vitamin B deficiency +MONDO:0004583 transient retinal arterial occlusion MONDO:0006948 NCIT:C35193 NCIT:C34978 retinal artery occlusion +MONDO:0004588 night blindness MONDO:0001941 NCIT:C34850 NCIT:C97109 blindness (disorder) +MONDO:0004592 impetigo MONDO:0021201 NCIT:C99088 NCIT:C35025 skin infection MONDO:0004604 Hodgkin's lymphoma, lymphocytic-histiocytic predominance MONDO:0009348 NCIT:C6913 NCIT:C7164 classic Hodgkin lymphoma MONDO:0004608 oropharynx cancer MONDO:0005517 NCIT:C7398 NCIT:C7545 pharynx cancer MONDO:0004608 oropharynx cancer MONDO:0021364 NCIT:C7398 NCIT:C3291 neoplasm of oropharynx MONDO:0004611 soft palate cancer MONDO:0004608 NCIT:C3529 NCIT:C7398 oropharynx cancer +MONDO:0004613 acute intestinal ischemia MONDO:0020675 NCIT:C34356 NCIT:C35212 ischemic bowel disorder +MONDO:0004616 herpetic whitlow MONDO:0005898 NCIT:C128402 NCIT:C79702 paronychia MONDO:0004624 uvula cancer MONDO:0004611 NCIT:C35177 NCIT:C3529 soft palate cancer +MONDO:0004625 phlebitis MONDO:0004634 NCIT:C38003 NCIT:C35279 vein disorder +MONDO:0004627 duodenitis MONDO:0043579 NCIT:C94409 NCIT:C26765 enteritis MONDO:0004631 tongue cancer MONDO:0005515 NCIT:C9345 NCIT:C9314 oral cavity cancer MONDO:0004631 tongue cancer MONDO:0021240 NCIT:C9345 NCIT:C3416 tongue neoplasm MONDO:0004633 Hodgkin's lymphoma, mixed cellularity MONDO:0009348 NCIT:C3517 NCIT:C7164 classic Hodgkin lymphoma MONDO:0004635 postcricoid region cancer MONDO:0005806 NCIT:C9323 NCIT:C7190 hypopharynx cancer MONDO:0004636 lip carcinoma in situ MONDO:0021333 NCIT:C4588 NCIT:C3490 carcinoma of lip +MONDO:0004640 alcoholic gastritis MONDO:0004966 NCIT:C26977 NCIT:C26780 gastritis MONDO:0004641 skin carcinoma in situ MONDO:0002656 NCIT:C3640 NCIT:C4914 skin carcinoma MONDO:0004641 skin carcinoma in situ MONDO:0004647 NCIT:C3640 NCIT:C2917 in situ carcinoma MONDO:0004643 myeloid leukemia MONDO:0005059 NCIT:C3172 NCIT:C3161 leukemia @@ -2189,47 +2676,98 @@ MONDO:0004645 cheek mucosa cancer MONDO:0005515 NCIT:C9320 NCIT:C9314 oral cavit MONDO:0004645 cheek mucosa cancer MONDO:0021241 NCIT:C9320 NCIT:C4405 buccal mucosa neoplasm MONDO:0004647 in situ carcinoma MONDO:0004993 NCIT:C2917 NCIT:C2916 carcinoma MONDO:0004647 in situ carcinoma MONDO:0021074 NCIT:C2917 NCIT:C3341 precancerous condition +MONDO:0004648 vascular dementia MONDO:0001627 NCIT:C34525 NCIT:C4786 dementia +MONDO:0004650 malignant carotid body paraganglioma MONDO:0005627 NCIT:C3574 NCIT:C4013 head and neck cancer MONDO:0004650 malignant carotid body paraganglioma MONDO:0021053 NCIT:C3574 NCIT:C2932 carotid body paraganglioma +MONDO:0004652 bacterial pneumonia MONDO:0005113 NCIT:C26704 NCIT:C2890 bacterial infectious disease +MONDO:0004652 bacterial pneumonia MONDO:0005249 NCIT:C26704 NCIT:C3333 pneumonia MONDO:0004653 atypical chronic myeloid leukemia, BCR-ABL1 negative MONDO:0006311 NCIT:C3519 NCIT:C27262 myelodysplastic/myeloproliferative neoplasm MONDO:0004658 breast carcinoma in situ MONDO:0004647 NCIT:C3641 NCIT:C2917 in situ carcinoma MONDO:0004660 lung carcinoma in situ MONDO:0004647 NCIT:C27467 NCIT:C2917 in situ carcinoma MONDO:0004661 trachea carcinoma in situ MONDO:0001419 NCIT:C3639 NCIT:C4448 trachea squamous cell carcinoma MONDO:0004661 trachea carcinoma in situ MONDO:0004693 NCIT:C3639 NCIT:C27093 squamous carcinoma in situ +MONDO:0004664 helminthiasis MONDO:0005135 NCIT:C84751 NCIT:C27864 parasitic infectious disease MONDO:0004665 nodular sclerosis classical Hodgkin lymphoma MONDO:0009348 NCIT:C3518 NCIT:C7164 classic Hodgkin lymphoma MONDO:0004667 sublingual gland cancer MONDO:0021242 NCIT:C3527 NCIT:C3392 sublingual gland neoplasm MONDO:0004667 sublingual gland cancer MONDO:0044743 NCIT:C3527 NCIT:C4762 major salivary gland cancer +MONDO:0004669 salivary gland cancer MONDO:0005627 NCIT:C3811 NCIT:C4013 head and neck cancer MONDO:0004669 salivary gland cancer MONDO:0021357 NCIT:C3811 NCIT:C3361 tumor of salivary gland +MONDO:0004670 lupus erythematosus MONDO:0005554 NCIT:C27153 NCIT:C27204 rheumatic disorder +MONDO:0004670 lupus erythematosus MONDO:0007179 NCIT:C27153 NCIT:C2889 autoimmune disease MONDO:0004671 penis carcinoma in situ MONDO:0004693 NCIT:C27790 NCIT:C27093 squamous carcinoma in situ MONDO:0004671 penis carcinoma in situ MONDO:0018352 NCIT:C27790 NCIT:C7729 squamous cell carcinoma of penis +MONDO:0004674 chorioretinitis MONDO:0020283 NCIT:C110923 NCIT:C26909 uveitis MONDO:0004684 plantar fibromatosis MONDO:0016037 NCIT:C4680 NCIT:C6814 superficial Fibromatosis +MONDO:0004691 autosomal dominant polycystic kidney disease MONDO:0020642 NCIT:C84578 NCIT:C75464 polycystic kidney disease MONDO:0004693 squamous carcinoma in situ MONDO:0004647 NCIT:C27093 NCIT:C2917 in situ carcinoma MONDO:0004693 squamous carcinoma in situ MONDO:0005096 NCIT:C27093 NCIT:C2929 squamous cell carcinoma -MONDO:0004695 liver lymphoma MONDO:0002691 NCIT:C4949 NCIT:C34803 liver cancer MONDO:0004695 liver lymphoma MONDO:0004699 NCIT:C4949 NCIT:C38162 gastrointestinal lymphoma MONDO:0004696 larynx carcinoma in situ MONDO:0004647 NCIT:C9100 NCIT:C2917 in situ carcinoma +MONDO:0004697 esophageal leukoplakia MONDO:0043243 NCIT:C3953 NCIT:C3186 leukoplakia MONDO:0004699 gastrointestinal lymphoma MONDO:0002516 NCIT:C38162 NCIT:C4890 digestive system cancer MONDO:0004700 parotid gland cancer MONDO:0021243 NCIT:C3525 NCIT:C3314 parotid gland neoplasm MONDO:0004700 parotid gland cancer MONDO:0044743 NCIT:C3525 NCIT:C4762 major salivary gland cancer +MONDO:0004701 uterine polyp MONDO:0002654 NCIT:C3662 NCIT:C26907 uterine disorder +MONDO:0004701 uterine polyp MONDO:0005079 NCIT:C3662 NCIT:C3340 polyp MONDO:0004703 bladder carcinoma in situ MONDO:0003930 NCIT:C3644 NCIT:C6188 non-invasive bladder urothelial carcinoma MONDO:0004703 bladder carcinoma in situ MONDO:0006111 NCIT:C3644 NCIT:C37266 bladder flat intraepithelial lesion MONDO:0004709 occipital lobe neoplasm MONDO:0021374 NCIT:C5574 NCIT:C4874 neoplasm of cerebral hemisphere +MONDO:0004712 herpes simplex dermatitis MONDO:0021201 NCIT:C35620 NCIT:C35025 skin infection +MONDO:0004720 variola minor infection MONDO:0004651 NCIT:C34365 NCIT:C35027 smallpox MONDO:0004724 submandibular gland cancer MONDO:0006284 NCIT:C8396 NCIT:C5907 major salivary gland carcinoma +MONDO:0004730 speech disorder MONDO:0002182 NCIT:C5041 NCIT:C2958 communication disorder +MONDO:0004731 central sleep apnea syndrome MONDO:0002254 NCIT:C27169 NCIT:C28193 syndromic disease MONDO:0004733 pyriform sinus cancer MONDO:0005806 NCIT:C3531 NCIT:C7190 hypopharynx cancer +MONDO:0004737 homocystinuria MONDO:0037871 NCIT:C84765 NCIT:C97090 amino acid metabolism disease +MONDO:0004743 hyperhomocysteinemia MONDO:0004737 NCIT:C84770 NCIT:C84765 homocystinuria +MONDO:0004748 lip disorder MONDO:0006858 NCIT:C26818 NCIT:C3240 mouth disorder MONDO:0004749 myocardium cancer MONDO:0001340 NCIT:C4569 NCIT:C3548 heart cancer MONDO:0004749 myocardium cancer MONDO:0021380 NCIT:C4569 NCIT:C5349 neoplasm of myocardium MONDO:0004752 neurofibroma of the heart MONDO:0016755 NCIT:C5359 NCIT:C3272 neurofibroma MONDO:0004756 nasal cavity neoplasm MONDO:0002232 NCIT:C4413 NCIT:C27102 nasal cavity disorder +MONDO:0004757 chronic ethmoidal sinusitis MONDO:0005756 NCIT:C34472 NCIT:C34597 ethmoid sinusitis +MONDO:0004757 chronic ethmoidal sinusitis MONDO:0006031 NCIT:C34472 NCIT:C35151 chronic rhinosinusitis +MONDO:0004763 carotid artery dissection MONDO:0005269 NCIT:C125662 NCIT:C84476 carotid artery disorder +MONDO:0004766 status asthmaticus MONDO:0004979 NCIT:C122577 NCIT:C28397 asthma +MONDO:0004769 orbital plasma cell granuloma MONDO:0021167 NCIT:C117296 NCIT:C27578 myositis disease +MONDO:0004773 iridocyclitis MONDO:0006651 NCIT:C34736 NCIT:C35109 anterior uveitis +MONDO:0004777 acute laryngitis MONDO:0002647 NCIT:C26688 NCIT:C26811 laryngitis +MONDO:0004781 acute myocardial infarction MONDO:0005068 NCIT:C35204 NCIT:C27996 myocardial infarction +MONDO:0004786 chronic cholangitis MONDO:0004789 NCIT:C35335 NCIT:C26718 cholangitis MONDO:0004787 cervical mullerian papilloma MONDO:0000644 NCIT:C40215 NCIT:C3607 cervical benign neoplasm MONDO:0004788 cervix squamous papilloma MONDO:0000644 NCIT:C6342 NCIT:C3607 cervical benign neoplasm MONDO:0004788 cervix squamous papilloma MONDO:0001825 NCIT:C6342 NCIT:C3712 squamous papilloma +MONDO:0004789 cholangitis MONDO:0006322 NCIT:C26718 NCIT:C35774 non-neoplastic bile duct disorder +MONDO:0004795 otitis externa MONDO:0021666 NCIT:C3299 NCIT:C27193 ear infection +MONDO:0004796 infectious meningitis MONDO:0021108 NCIT:C79598 NCIT:C26828 meningitis +MONDO:0004796 infectious meningitis MONDO:0024619 NCIT:C79598 NCIT:C27582 central nervous system infectious disorder +MONDO:0004806 chronic eosinophilic pneumonia MONDO:0005749 NCIT:C34471 NCIT:C35150 eosinophilic pneumonia MONDO:0004815 osteosclerotic plasma cell myeloma MONDO:0009693 NCIT:C7765 NCIT:C3242 plasma cell myeloma MONDO:0004816 refractory plasma cell neoplasm MONDO:0004959 NCIT:C7813 NCIT:C4665 plasma cell neoplasm MONDO:0004817 non-secretory plasma cell myeloma MONDO:0009693 NCIT:C4734 NCIT:C3242 plasma cell myeloma MONDO:0004820 peripheral nerve schwannoma MONDO:0002546 NCIT:C41430 NCIT:C3269 schwannoma +MONDO:0004821 nasopharyngeal disorder MONDO:0020592 NCIT:C35723 NCIT:C26850 disorder of pharynx +MONDO:0004822 bronchiectasis MONDO:0005002 NCIT:C84475 NCIT:C3199 chronic obstructive pulmonary disease +MONDO:0004824 neonatal candidiasis MONDO:0002026 NCIT:C116810 NCIT:C26711 candidiasis MONDO:0004827 esophagus squamous cell papilloma MONDO:0001825 NCIT:C5344 NCIT:C3712 squamous papilloma MONDO:0004832 esophagus leiomyoma MONDO:0021459 NCIT:C3866 NCIT:C3598 benign neoplasm of esophagus +MONDO:0004834 ischemic fasciitis MONDO:0004830 NCIT:C6483 NCIT:C50559 fasciitis +MONDO:0004835 necrotizing fasciitis MONDO:0004830 NCIT:C84916 NCIT:C50559 fasciitis MONDO:0004836 intravascular fasciitis MONDO:0004187 NCIT:C4729 NCIT:C3827 nodular fasciitis MONDO:0004837 neurofibroma of the esophagus MONDO:0016755 NCIT:C5704 NCIT:C3272 neurofibroma +MONDO:0004844 oral mucosa leukoplakia MONDO:0043243 NCIT:C3187 NCIT:C3186 leukoplakia +MONDO:0004848 ulcerative stomatitis MONDO:0004842 NCIT:C35039 NCIT:C26887 stomatitis +MONDO:0004849 pulmonary emphysema MONDO:0005002 NCIT:C3348 NCIT:C3199 chronic obstructive pulmonary disease +MONDO:0004873 internal hemorrhoid MONDO:0004872 NCIT:C35319 NCIT:C26792 hemorrhoid +MONDO:0004875 xanthogranulomatous cholecystitis MONDO:0002155 NCIT:C35792 NCIT:C34465 cholecystitis +MONDO:0004881 myositis fibrosa MONDO:0021167 NCIT:C26985 NCIT:C27578 myositis disease +MONDO:0004893 hypertropia MONDO:0003432 NCIT:C34716 NCIT:C35040 strabismus +MONDO:0004896 esotropia MONDO:0003432 NCIT:C34596 NCIT:C35040 strabismus +MONDO:0004897 hypotropia MONDO:0003432 NCIT:C42086 NCIT:C35040 strabismus +MONDO:0004905 intestinal disaccharidase deficiency MONDO:0020598 NCIT:C34731 NCIT:C3214 malabsorption syndrome +MONDO:0004910 mitral valve prolapse MONDO:0003767 NCIT:C50655 NCIT:C78446 mitral valve disorder +MONDO:0004933 hypoplastic left heart syndrome MONDO:0002254 NCIT:C98894 NCIT:C28193 syndromic disease +MONDO:0004939 hallucinogen dependence MONDO:0005303 NCIT:C34657 NCIT:C3894 drug dependence MONDO:0004942 orbit lymphoma MONDO:0002889 NCIT:C6244 NCIT:C3562 orbital cancer MONDO:0004943 orbit sarcoma MONDO:0002889 NCIT:C6095 NCIT:C3562 orbital cancer MONDO:0004948 B-cell chronic lymphocytic leukemia MONDO:0001014 NCIT:C3163 NCIT:C3483 chronic leukemia @@ -2255,8 +2793,13 @@ MONDO:0004972 adenoma MONDO:0005626 NCIT:C2855 NCIT:C3709 epithelial neoplasm MONDO:0004973 adenosquamous lung carcinoma MONDO:0006074 NCIT:C9133 NCIT:C3727 adenosquamous carcinoma MONDO:0004974 adrenal gland pheochromocytoma MONDO:0021072 NCIT:C3326 NCIT:C4216 sympathetic paraganglioma MONDO:0004974 adrenal gland pheochromocytoma MONDO:0021237 NCIT:C3326 NCIT:C4856 adrenal medulla neoplasm +MONDO:0004975 Alzheimer disease MONDO:0001627 NCIT:C2866 NCIT:C4786 dementia +MONDO:0004980 atopic eczema MONDO:0002406 NCIT:C3001 NCIT:C2983 dermatitis +MONDO:0004981 atrial fibrillation MONDO:0007263 NCIT:C50466 NCIT:C2881 cardiac rhythm disease +MONDO:0004985 bipolar disorder MONDO:0005371 NCIT:C34423 NCIT:C92200 mood disorder MONDO:0004986 urinary bladder carcinoma MONDO:0001187 NCIT:C4912 NCIT:C9334 urinary bladder cancer MONDO:0004987 urinary bladder neoplasm MONDO:0006026 NCIT:C2901 NCIT:C2900 urinary bladder disorder +MONDO:0004987 urinary bladder neoplasm MONDO:0021066 NCIT:C2901 NCIT:C3431 urinary system neoplasm MONDO:0004988 breast adenocarcinoma MONDO:0004970 NCIT:C5214 NCIT:C2852 adenocarcinoma MONDO:0004988 breast adenocarcinoma MONDO:0004989 NCIT:C5214 NCIT:C4872 breast carcinoma MONDO:0004989 breast carcinoma MONDO:0004993 NCIT:C4872 NCIT:C2916 carcinoma @@ -2264,9 +2807,12 @@ MONDO:0004989 breast carcinoma MONDO:0007254 NCIT:C4872 NCIT:C9335 breast cancer MONDO:0004991 minimally invasive lung adenocarcinoma MONDO:0005061 NCIT:C2923 NCIT:C3512 lung adenocarcinoma MONDO:0004993 carcinoma MONDO:0004992 NCIT:C2916 NCIT:C9305 cancer MONDO:0004993 carcinoma MONDO:0005626 NCIT:C2916 NCIT:C3709 epithelial neoplasm +MONDO:0004996 childhood acute myeloid leukemia MONDO:0004355 NCIT:C9160 NCIT:C4989 childhood leukemia MONDO:0004996 childhood acute myeloid leukemia MONDO:0018874 NCIT:C9160 NCIT:C3171 acute myeloid leukemia MONDO:0004997 chondroblastoma MONDO:0000631 NCIT:C2945 NCIT:C4880 bone benign neoplasm MONDO:0004997 chondroblastoma MONDO:0024470 NCIT:C2945 NCIT:C8592 benign chondrogenic neoplasm +MONDO:0005001 chronic gastritis MONDO:0004966 NCIT:C26929 NCIT:C26780 gastritis +MONDO:0005003 chronic pancreatitis MONDO:0004982 NCIT:C84637 NCIT:C3306 pancreatitis MONDO:0005004 clear cell adenocarcinoma MONDO:0004970 NCIT:C3766 NCIT:C2852 adenocarcinoma MONDO:0005005 clear cell renal carcinoma MONDO:0005004 NCIT:C4033 NCIT:C3766 clear cell adenocarcinoma MONDO:0005005 clear cell renal carcinoma MONDO:0005549 NCIT:C4033 NCIT:C9385 renal cell adenocarcinoma @@ -2274,18 +2820,24 @@ MONDO:0005006 clear cell sarcoma of kidney MONDO:0002930 NCIT:C4264 NCIT:C4525 k MONDO:0005007 colon mucinous adenocarcinoma MONDO:0002271 NCIT:C7966 NCIT:C4349 colon adenocarcinoma MONDO:0005008 colorectal adenocarcinoma MONDO:0004970 NCIT:C5105 NCIT:C2852 adenocarcinoma MONDO:0005008 colorectal adenocarcinoma MONDO:0024331 NCIT:C5105 NCIT:C2955 colorectal carcinoma +MONDO:0005009 congestive heart failure MONDO:0005252 NCIT:C3080 NCIT:C50577 heart failure +MONDO:0005011 Crohn disease MONDO:0005265 NCIT:C2965 NCIT:C3138 inflammatory bowel disease MONDO:0005012 cutaneous melanoma MONDO:0002898 NCIT:C3510 NCIT:C2920 skin cancer MONDO:0005012 cutaneous melanoma MONDO:0005105 NCIT:C3510 NCIT:C3224 melanoma MONDO:0005012 cutaneous melanoma MONDO:0021583 NCIT:C3510 NCIT:C7161 melanocytic skin neoplasm MONDO:0005013 dedifferentiated chondrosarcoma MONDO:0021054 NCIT:C6476 NCIT:C9312 bone sarcoma +MONDO:0005015 diabetes mellitus MONDO:0002908 NCIT:C2985 NCIT:C53655 glucose metabolism disease +MONDO:0005016 diabetic kidney disease MONDO:0005300 NCIT:C84417 NCIT:C80078 chronic kidney disease MONDO:0005017 diffuse gastric adenocarcinoma MONDO:0005036 NCIT:C9159 NCIT:C4004 gastric adenocarcinoma MONDO:0005017 diffuse gastric adenocarcinoma MONDO:0021652 NCIT:C9159 NCIT:C4127 diffuse type adenocarcinoma +MONDO:0005020 intestinal disorder MONDO:0004335 NCIT:C26801 NCIT:C2990 digestive system disorder MONDO:0005023 ductal breast carcinoma in situ MONDO:0004007 NCIT:C2924 NCIT:C27942 breast intraductal proliferative lesion MONDO:0005023 ductal breast carcinoma in situ MONDO:0004658 NCIT:C2924 NCIT:C3641 breast carcinoma in situ MONDO:0005023 ductal breast carcinoma in situ MONDO:0005590 NCIT:C2924 NCIT:C4017 breast ductal adenocarcinoma MONDO:0005026 endometrioid adenocarcinoma MONDO:0004970 NCIT:C3769 NCIT:C2852 adenocarcinoma MONDO:0005028 esophageal adenocarcinoma MONDO:0004970 NCIT:C4025 NCIT:C2852 adenocarcinoma MONDO:0005028 esophageal adenocarcinoma MONDO:0019086 NCIT:C4025 NCIT:C3513 carcinoma of esophagus +MONDO:0005029 essential thrombocythemia MONDO:0020076 NCIT:C3407 NCIT:C4345 myeloproliferative neoplasm MONDO:0005031 fibromatosis MONDO:0006209 NCIT:C3042 NCIT:C7075 fibroblastic neoplasm MONDO:0005032 follicular thyroid adenoma MONDO:0004972 NCIT:C3502 NCIT:C2855 adenoma MONDO:0005032 follicular thyroid adenoma MONDO:0006107 NCIT:C3502 NCIT:C3628 benign thyroid gland neoplasm @@ -2299,6 +2851,7 @@ MONDO:0005048 pancreatic insulin-producing neuroendocrine tumor MONDO:0019954 NC MONDO:0005050 invasive ductal and lobular carcinoma MONDO:0006306 NCIT:C7688 NCIT:C5160 mixed lobular and ductal breast carcinoma MONDO:0005051 invasive lobular breast carcinoma MONDO:0000552 NCIT:C7950 NCIT:C3771 breast lobular carcinoma MONDO:0005051 invasive lobular breast carcinoma MONDO:0006256 NCIT:C7950 NCIT:C9245 invasive breast carcinoma +MONDO:0005052 irritable bowel syndrome MONDO:0002254 NCIT:C82343 NCIT:C28193 syndromic disease MONDO:0005056 keratinizing squamous cell carcinoma MONDO:0005096 NCIT:C4105 NCIT:C2929 squamous cell carcinoma MONDO:0005057 large cell neuroendocrine carcinoma MONDO:0002120 NCIT:C6875 NCIT:C3773 neuroendocrine carcinoma MONDO:0005057 large cell neuroendocrine carcinoma MONDO:0005232 NCIT:C6875 NCIT:C3780 large cell carcinoma @@ -2307,15 +2860,20 @@ MONDO:0005059 leukemia MONDO:0044881 NCIT:C3161 NCIT:C27134 hematopoietic and ly MONDO:0005061 lung adenocarcinoma MONDO:0005233 NCIT:C3512 NCIT:C2926 non-small cell lung carcinoma MONDO:0005062 lymphoma MONDO:0005157 NCIT:C3208 NCIT:C7065 lymphoid neoplasm MONDO:0005063 medullary breast carcinoma MONDO:0004953 NCIT:C9119 NCIT:C4194 invasive ductal breast carcinoma +MONDO:0005065 mesothelioma MONDO:0006856 NCIT:C3234 NCIT:C3786 mesothelial neoplasm MONDO:0005067 monophasic synovial sarcoma MONDO:0010434 NCIT:C6534 NCIT:C3400 synovial sarcoma +MONDO:0005068 myocardial infarction MONDO:0024643 NCIT:C27996 NCIT:C35544 myocardial disorder MONDO:0005072 neuroblastoma MONDO:0006316 NCIT:C3270 NCIT:C6963 neuroblastic tumor MONDO:0005074 papillary cystadenocarcinoma MONDO:0002512 NCIT:C3777 NCIT:C2853 papillary adenocarcinoma MONDO:0005074 papillary cystadenocarcinoma MONDO:0005596 NCIT:C3777 NCIT:C2971 cystadenocarcinoma MONDO:0005074 papillary cystadenocarcinoma MONDO:0006349 NCIT:C3777 NCIT:C4179 papillary cystic neoplasm MONDO:0005075 thyroid gland papillary carcinoma MONDO:0002512 NCIT:C4035 NCIT:C2853 papillary adenocarcinoma MONDO:0005075 thyroid gland papillary carcinoma MONDO:0015447 NCIT:C4035 NCIT:C7153 differentiated thyroid carcinoma +MONDO:0005076 periodontitis MONDO:0002635 NCIT:C34918 NCIT:C63743 periodontal disorder MONDO:0005078 phyllodes tumor MONDO:0021045 NCIT:C2977 NCIT:C3743 fibroepithelial neoplasm +MONDO:0005081 preeclampsia MONDO:0045048 NCIT:C85021 NCIT:C34943 toxemia of pregnancy MONDO:0005082 prostate adenocarcinoma MONDO:0004970 NCIT:C2919 NCIT:C2852 adenocarcinoma +MONDO:0005083 psoriasis MONDO:0002406 NCIT:C3346 NCIT:C2983 dermatitis MONDO:0005085 pterygium MONDO:0006105 NCIT:C133744 NCIT:C3622 benign conjunctival neoplasm MONDO:0005089 sarcoma MONDO:0004992 NCIT:C9118 NCIT:C9305 cancer MONDO:0005092 signet ring cell carcinoma MONDO:0004970 NCIT:C3774 NCIT:C2852 adenocarcinoma @@ -2324,18 +2882,32 @@ MONDO:0005096 squamous cell carcinoma MONDO:0002532 NCIT:C2929 NCIT:C3792 squamo MONDO:0005096 squamous cell carcinoma MONDO:0004993 NCIT:C2929 NCIT:C2916 carcinoma MONDO:0005097 squamous cell lung carcinoma MONDO:0005096 NCIT:C3493 NCIT:C2929 squamous cell carcinoma MONDO:0005097 squamous cell lung carcinoma MONDO:0005138 NCIT:C3493 NCIT:C4878 lung carcinoma +MONDO:0005098 stroke disorder MONDO:0011057 NCIT:C3390 NCIT:C2938 cerebrovascular disorder +MONDO:0005100 systemic sclerosis MONDO:0019340 NCIT:C72070 NCIT:C26746 scleroderma MONDO:0005102 undifferentiated (embryonal) sarcoma MONDO:0002397 NCIT:C27096 NCIT:C4437 liver sarcoma MONDO:0005105 melanoma MONDO:0021143 NCIT:C3224 NCIT:C7058 melanocytic neoplasm MONDO:0005106 lipoma MONDO:0044983 NCIT:C3192 NCIT:C4502 benign lipomatous neoplasm +MONDO:0005108 viral infectious disease MONDO:0005550 NCIT:C3439 NCIT:C26726 infectious disease +MONDO:0005110 idiopathic cardiomyopathy MONDO:0004994 NCIT:C53654 NCIT:C34830 cardiomyopathy MONDO:0005112 malignant pleural mesothelioma MONDO:0003308 NCIT:C7376 NCIT:C9351 pleural mesothelioma MONDO:0005112 malignant pleural mesothelioma MONDO:0006292 NCIT:C7376 NCIT:C4456 malignant mesothelioma MONDO:0005112 malignant pleural mesothelioma MONDO:0006294 NCIT:C7376 NCIT:C3547 pleural cancer +MONDO:0005113 bacterial infectious disease MONDO:0005550 NCIT:C2890 NCIT:C26726 infectious disease +MONDO:0005116 Whipple disease MONDO:0005113 NCIT:C85228 NCIT:C2890 bacterial infectious disease +MONDO:0005124 leprosy MONDO:0020590 NCIT:C84824 NCIT:C26831 mycobacterial infectious disease +MONDO:0005129 cataract MONDO:0001176 NCIT:C26713 NCIT:C26812 lens disorder +MONDO:0005130 celiac disease MONDO:0020598 NCIT:C26714 NCIT:C3214 malabsorption syndrome MONDO:0005131 cervical carcinoma MONDO:0002974 NCIT:C9039 NCIT:C9311 cervical cancer +MONDO:0005135 parasitic infectious disease MONDO:0005550 NCIT:C27864 NCIT:C26726 infectious disease MONDO:0005138 lung carcinoma MONDO:0004993 NCIT:C4878 NCIT:C2916 carcinoma MONDO:0005138 lung carcinoma MONDO:0008903 NCIT:C4878 NCIT:C7377 lung cancer MONDO:0005140 ovarian carcinoma MONDO:0018364 NCIT:C4908 NCIT:C40026 malignant epithelial tumor of ovary +MONDO:0005146 post-traumatic stress disorder MONDO:0005379 NCIT:C3389 NCIT:C34848 neurotic disorder +MONDO:0005147 type 1 diabetes mellitus MONDO:0005015 NCIT:C2986 NCIT:C2985 diabetes mellitus +MONDO:0005148 type 2 diabetes mellitus MONDO:0005015 NCIT:C26747 NCIT:C2985 diabetes mellitus MONDO:0005153 cervical adenocarcinoma MONDO:0004970 NCIT:C4029 NCIT:C2852 adenocarcinoma MONDO:0005153 cervical adenocarcinoma MONDO:0005131 NCIT:C4029 NCIT:C9039 cervical carcinoma +MONDO:0005154 liver disorder MONDO:0002515 NCIT:C3196 NCIT:C3959 hepatobiliary disorder MONDO:0005157 lymphoid neoplasm MONDO:0044881 NCIT:C7065 NCIT:C27134 hematopoietic and lymphoid cell neoplasm MONDO:0005159 prostate carcinoma MONDO:0008315 NCIT:C4863 NCIT:C7378 prostate cancer MONDO:0005164 fibrosarcoma MONDO:0006209 NCIT:C3043 NCIT:C7075 fibroblastic neoplasm @@ -2343,8 +2915,11 @@ MONDO:0005166 osteoma MONDO:0000631 NCIT:C3296 NCIT:C4880 bone benign neoplasm MONDO:0005169 neoplasm of mature T-cells or NK-cells MONDO:0024615 NCIT:C27909 NCIT:C27908 T-cell and NK-cell neoplasm MONDO:0005170 myeloid neoplasm MONDO:0044881 NCIT:C9290 NCIT:C27134 hematopoietic and lymphoid cell neoplasm MONDO:0005177 serous cystadenoma MONDO:0002369 NCIT:C3783 NCIT:C2972 cystadenoma +MONDO:0005178 osteoarthritis MONDO:0005578 NCIT:C3293 NCIT:C2883 arthritic joint disease MONDO:0005183 ovarian cystadenoma MONDO:0002369 NCIT:C4060 NCIT:C2972 cystadenoma MONDO:0005184 pancreatic ductal adenocarcinoma MONDO:0006047 NCIT:C9120 NCIT:C8294 pancreatic adenocarcinoma +MONDO:0005185 chronic childhood arthritis MONDO:0008383 NCIT:C27179 NCIT:C2884 rheumatoid arthritis +MONDO:0005186 cocaine dependence MONDO:0005303 NCIT:C34492 NCIT:C3894 drug dependence MONDO:0005188 iatrogenic Kaposi's sarcoma MONDO:0005055 NCIT:C35873 NCIT:C9087 Kaposi's sarcoma MONDO:0005191 metastatic melanoma MONDO:0005105 NCIT:C8925 NCIT:C3224 melanoma MONDO:0005192 exocrine pancreatic carcinoma MONDO:0002116 NCIT:C3850 NCIT:C7430 malignant exocrine pancreas neoplasm @@ -2367,37 +2942,104 @@ MONDO:0005221 renal pelvis urothelial carcinoma MONDO:0005519 NCIT:C7355 NCIT:C6 MONDO:0005221 renal pelvis urothelial carcinoma MONDO:0020654 NCIT:C7355 NCIT:C7716 renal pelvis/ureter urothelial carcinoma MONDO:0005223 acute myeloid leukemia with minimal differentiation MONDO:0015667 NCIT:C8460 NCIT:C27753 acute myeloid leukemia by FAB classification MONDO:0005224 acute myeloblastic leukemia without maturation MONDO:0015667 NCIT:C3249 NCIT:C27753 acute myeloid leukemia by FAB classification +MONDO:0005227 abscess MONDO:0005550 NCIT:C26686 NCIT:C26726 infectious disease MONDO:0005232 large cell carcinoma MONDO:0004993 NCIT:C3780 NCIT:C2916 carcinoma MONDO:0005233 non-small cell lung carcinoma MONDO:0005138 NCIT:C2926 NCIT:C4878 lung carcinoma MONDO:0005235 smoldering plasma cell myeloma MONDO:0009693 NCIT:C7149 NCIT:C3242 plasma cell myeloma +MONDO:0005240 kidney disorder MONDO:0002118 NCIT:C3149 NCIT:C3430 urinary system disorder +MONDO:0005242 empyema MONDO:0005113 NCIT:C34572 NCIT:C2890 bacterial infectious disease +MONDO:0005244 peripheral neuropathy MONDO:0003620 NCIT:C119734 NCIT:C27580 peripheral nervous system disorder +MONDO:0005258 autism spectrum disorder MONDO:0000594 NCIT:C88412 NCIT:C97179 pervasive developmental disorder +MONDO:0005259 Asperger syndrome MONDO:0005258 NCIT:C97159 NCIT:C88412 autism spectrum disorder +MONDO:0005260 autism MONDO:0005258 NCIT:C97161 NCIT:C88412 autism spectrum disorder +MONDO:0005264 transient ischemic attack MONDO:0005299 NCIT:C50781 NCIT:C78394 brain ischemia +MONDO:0005266 diabetic retinopathy MONDO:0002311 NCIT:C34538 NCIT:C35170 retinal vascular disorder +MONDO:0005267 heart disorder MONDO:0004995 NCIT:C3079 NCIT:C2931 cardiovascular disorder +MONDO:0005271 allergic disease MONDO:0000605 NCIT:C114476 NCIT:C3114 hypersensitivity reaction disease +MONDO:0005272 myelodysplastic syndrome with single lineage dysplasia MONDO:0018881 NCIT:C82591 NCIT:C3247 myelodysplastic syndrome +MONDO:0005277 migraine disorder MONDO:0043218 NCIT:C89715 NCIT:C117007 neurovascular disorder MONDO:0005278 serous adenocarcinoma MONDO:0004970 NCIT:C40101 NCIT:C2852 adenocarcinoma +MONDO:0005282 cutaneous lupus erythematosus MONDO:0004670 NCIT:C26819 NCIT:C27153 lupus erythematosus +MONDO:0005283 retinal disorder MONDO:0005328 NCIT:C26875 NCIT:C26767 eye disorder MONDO:0005286 palatal neoplasm MONDO:0021245 NCIT:C4402 NCIT:C7606 oral cavity neoplasm MONDO:0005289 paranasal sinus neoplasm MONDO:0001735 NCIT:C7488 NCIT:C26843 paranasal sinus disorder +MONDO:0005298 osteoporosis MONDO:0800486 NCIT:C3298 NCIT:C97045 metabolic bone disorder +MONDO:0005299 brain ischemia MONDO:0011057 NCIT:C78394 NCIT:C2938 cerebrovascular disorder +MONDO:0005302 attention deficit hyperactivity disorder, inattentive type MONDO:0007743 NCIT:C35092 NCIT:C97160 attention deficit-hyperactivity disorder +MONDO:0005303 drug dependence MONDO:0004938 NCIT:C3894 NCIT:C35458 substance dependence +MONDO:0005306 ankylosing spondylitis MONDO:0005095 NCIT:C84564 NCIT:C116778 spondyloarthropathy +MONDO:0005311 atherosclerosis MONDO:0002277 NCIT:C35768 NCIT:C34398 arteriosclerosis disorder +MONDO:0005311 atherosclerosis MONDO:0002277 NCIT:C35771 NCIT:C34403 arteriosclerosis disorder +MONDO:0005313 necrotizing enterocolitis MONDO:0009172 NCIT:C84915 NCIT:C79573 enterocolitis +MONDO:0005314 relapsing-remitting multiple sclerosis MONDO:0005301 NCIT:C165675 NCIT:C3243 multiple sclerosis +MONDO:0005316 bacterial vaginosis MONDO:0023557 NCIT:C116973 NCIT:C84353 infective vaginitis +MONDO:0005324 seasonal allergic rhinitis MONDO:0011786 NCIT:C92188 NCIT:C79532 allergic rhinitis MONDO:0005335 colorectal neoplasm MONDO:0021118 NCIT:C2956 NCIT:C3141 intestinal neoplasm +MONDO:0005338 open-angle glaucoma MONDO:0005041 NCIT:C34641 NCIT:C26782 glaucoma MONDO:0005341 skin basal cell carcinoma MONDO:0020804 NCIT:C2921 NCIT:C156767 basal cell carcinoma +MONDO:0005342 IgA glomerulonephritis MONDO:0002462 NCIT:C34643 NCIT:C26784 glomerulonephritis +MONDO:0005348 keloid MONDO:0006603 NCIT:C3145 NCIT:C27549 reactive cutaneous fibrous lesion +MONDO:0005351 anorexia nervosa MONDO:0005451 NCIT:C34387 NCIT:C89332 eating disorder +MONDO:0005357 Creutzfeldt Jacob disease MONDO:0005429 NCIT:C26802 NCIT:C128346 prion disease +MONDO:0005358 Dengue hemorrhagic fever MONDO:0005502 NCIT:C34683 NCIT:C34528 dengue disease +MONDO:0005361 eosinophilic esophagitis MONDO:0001409 NCIT:C27105 NCIT:C9224 esophagitis +MONDO:0005364 Graves disease MONDO:0005397 NCIT:C3071 NCIT:C26785 goiter +MONDO:0005369 carcinoid tumor MONDO:0019496 NCIT:C2915 NCIT:C3809 neuroendocrine neoplasm MONDO:0005374 bone marrow neoplasm MONDO:0002334 NCIT:C35370 NCIT:C35813 hematopoietic and lymphoid system neoplasm MONDO:0005374 bone marrow neoplasm MONDO:0003225 NCIT:C35370 NCIT:C34433 bone marrow disorder MONDO:0005375 nasopharyngeal neoplasm MONDO:0004821 NCIT:C3257 NCIT:C35723 nasopharyngeal disorder MONDO:0005375 nasopharyngeal neoplasm MONDO:0021246 NCIT:C3257 NCIT:C3325 pharynx neoplasm +MONDO:0005376 membranous glomerulonephritis MONDO:0002462 NCIT:C34645 NCIT:C26784 glomerulonephritis +MONDO:0005377 nephrotic syndrome MONDO:0002254 NCIT:C34845 NCIT:C28193 syndromic disease +MONDO:0005379 neurotic disorder MONDO:0005618 NCIT:C34848 NCIT:C2878 anxiety disorder +MONDO:0005382 bone Paget disease MONDO:0800486 NCIT:C3292 NCIT:C97045 metabolic bone disorder +MONDO:0005383 panic disorder MONDO:0005618 NCIT:C34890 NCIT:C2878 anxiety disorder +MONDO:0005384 focal epilepsy MONDO:0005027 NCIT:C122812 NCIT:C3020 epilepsy +MONDO:0005385 vascular disorder MONDO:0004995 NCIT:C35117 NCIT:C2931 cardiovascular disorder +MONDO:0005386 peripheral arterial disease MONDO:0005294 NCIT:C84496 NCIT:C35136 peripheral vascular disease +MONDO:0005393 gout MONDO:0005066 NCIT:C34650 NCIT:C3235 metabolic disease MONDO:0005401 colonic neoplasm MONDO:0005335 NCIT:C2953 NCIT:C2956 colorectal neoplasm MONDO:0005402 lymphoid leukemia MONDO:0005059 NCIT:C7539 NCIT:C3161 leukemia MONDO:0005402 lymphoid leukemia MONDO:0005157 NCIT:C7539 NCIT:C7065 lymphoid neoplasm +MONDO:0005404 myalgic encephalomeyelitis/chronic fatigue syndrome MONDO:0021094 NCIT:C3037 NCIT:C3131 immunodeficiency disease +MONDO:0005406 gestational diabetes MONDO:0005015 NCIT:C34942 NCIT:C2985 diabetes mellitus MONDO:0005411 gallbladder cancer MONDO:0021253 NCIT:C7481 NCIT:C3048 gallbladder neoplasm +MONDO:0005412 duodenal ulcer MONDO:0004247 NCIT:C26755 NCIT:C3318 peptic ulcer disease +MONDO:0005429 prion disease MONDO:0024619 NCIT:C128346 NCIT:C27582 central nervous system infectious disorder MONDO:0005438 metastatic malignant neoplasm in the lymph nodes MONDO:0001082 NCIT:C4904 NCIT:C35812 lymph node cancer +MONDO:0005439 familial hypercholesterolemia MONDO:0037748 NCIT:C34704 NCIT:C34709 hyperlipoproteinemia +MONDO:0005445 visceral leishmaniasis MONDO:0011989 NCIT:C34771 NCIT:C34767 leishmaniasis +MONDO:0005446 cutaneous leishmaniasis MONDO:0011989 NCIT:C34768 NCIT:C34767 leishmaniasis MONDO:0005447 testicular cancer MONDO:0005836 NCIT:C7251 NCIT:C8561 male reproductive organ cancer MONDO:0005447 testicular cancer MONDO:0021348 NCIT:C7251 NCIT:C3404 neoplasm of testis +MONDO:0005451 eating disorder MONDO:0002025 NCIT:C89332 NCIT:C2893 psychiatric disorder +MONDO:0005451 eating disorder MONDO:0005137 NCIT:C89332 NCIT:C26836 nutritional disorder +MONDO:0005452 bulimia nervosa MONDO:0005451 NCIT:C34440 NCIT:C89332 eating disorder +MONDO:0005453 congenital heart disease MONDO:0024239 NCIT:C95834 NCIT:C35729 congenital anomaly of cardiovascular system MONDO:0005454 lung neuroendocrine neoplasm MONDO:0019496 NCIT:C5670 NCIT:C3809 neuroendocrine neoplasm MONDO:0005454 lung neuroendocrine neoplasm MONDO:0021117 NCIT:C5670 NCIT:C3200 lung neoplasm +MONDO:0005460 swine influenza MONDO:0005812 NCIT:C80444 NCIT:C53482 influenza MONDO:0005461 endometrium adenocarcinoma MONDO:0002447 NCIT:C7359 NCIT:C7558 endometrial carcinoma MONDO:0005461 endometrium adenocarcinoma MONDO:0004970 NCIT:C7359 NCIT:C2852 adenocarcinoma MONDO:0005462 primitive neuroectodermal tumor MONDO:0005564 NCIT:C3716 NCIT:C3264 embryonal neoplasm MONDO:0005462 primitive neuroectodermal tumor MONDO:0021193 NCIT:C3716 NCIT:C3787 neuroepithelial neoplasm +MONDO:0005464 rhegmatogenous retinal detachment MONDO:0008375 NCIT:C118755 NCIT:C26874 retinal detachment +MONDO:0005473 temporomandibular joint disorder MONDO:0006816 NCIT:C63709 NCIT:C35760 arthropathy +MONDO:0005475 migraine with aura MONDO:0005277 NCIT:C117005 NCIT:C89715 migraine disorder +MONDO:0005477 ventricular tachycardia MONDO:0007263 NCIT:C50802 NCIT:C2881 cardiac rhythm disease +MONDO:0005480 contact dermatitis MONDO:0002406 NCIT:C26743 NCIT:C2983 dermatitis +MONDO:0005483 chemotherapy-induced alopecia MONDO:0004907 NCIT:C164162 NCIT:C50575 alopecia MONDO:0005484 colorectal adenoma MONDO:0006180 NCIT:C5673 NCIT:C36207 digestive system adenoma +MONDO:0005492 urticaria MONDO:0002406 NCIT:C3432 NCIT:C2983 dermatitis MONDO:0005505 dysembryoplastic neuroepithelial tumor MONDO:0016729 NCIT:C9505 NCIT:C4747 mixed neuronal-glial tumor MONDO:0005506 eccrine sweat gland cancer MONDO:0002090 NCIT:C5559 NCIT:C6796 eccrine sweat gland neoplasm MONDO:0005506 eccrine sweat gland cancer MONDO:0002206 NCIT:C5559 NCIT:C4810 sweat gland cancer MONDO:0005507 gingival cancer MONDO:0005515 NCIT:C9317 NCIT:C9314 oral cavity cancer MONDO:0005507 gingival cancer MONDO:0021086 NCIT:C9317 NCIT:C3057 gingival neoplasm +MONDO:0005508 hereditary multiple osteochondromas MONDO:0002181 NCIT:C5183 NCIT:C3029 exostosis +MONDO:0005508 hereditary multiple osteochondromas MONDO:0015356 NCIT:C5183 NCIT:C3266 hereditary neoplastic syndrome +MONDO:0005508 hereditary multiple osteochondromas MONDO:0023603 NCIT:C5183 NCIT:C97075 hereditary disorder of connective tissue +MONDO:0005510 hydronephrosis MONDO:0003330 NCIT:C26796 NCIT:C3675 urinary tract obstruction MONDO:0005515 oral cavity cancer MONDO:0021245 NCIT:C9314 NCIT:C7606 oral cavity neoplasm MONDO:0005517 pharynx cancer MONDO:0021246 NCIT:C7545 NCIT:C3325 pharynx neoplasm MONDO:0005517 pharynx cancer MONDO:0021310 NCIT:C7545 NCIT:C4940 malignant tumor of neck @@ -2408,12 +3050,25 @@ MONDO:0005522 small intestine carcinoma MONDO:0006181 NCIT:C7724 NCIT:C96963 dig MONDO:0005524 sweat gland carcinoma MONDO:0002206 NCIT:C6938 NCIT:C4810 sweat gland cancer MONDO:0005524 sweat gland carcinoma MONDO:0004970 NCIT:C6938 NCIT:C2852 adenocarcinoma MONDO:0005524 sweat gland carcinoma MONDO:0006973 NCIT:C6938 NCIT:C3775 skin appendage carcinoma +MONDO:0005532 Crohn's colitis MONDO:0005011 NCIT:C35211 NCIT:C2965 Crohn disease +MONDO:0005542 acute coronary syndrome MONDO:0002254 NCIT:C53652 NCIT:C28193 syndromic disease +MONDO:0005545 staphylococcus aureus infection MONDO:0024313 NCIT:C122576 NCIT:C35038 staphylococcal infection +MONDO:0005546 fibromyalgia MONDO:0002254 NCIT:C87497 NCIT:C28193 syndromic disease +MONDO:0005556 lupus nephritis MONDO:0002462 NCIT:C34789 NCIT:C26784 glomerulonephritis +MONDO:0005558 ovarian disorder MONDO:0002263 NCIT:C26841 NCIT:C27020 female reproductive system disorder +MONDO:0005560 brain disorder MONDO:0002602 NCIT:C96413 NCIT:C2934 central nervous system disorder +MONDO:0005561 aortic disorder MONDO:0000473 NCIT:C101253 NCIT:C35317 arterial disorder MONDO:0005565 blastoma MONDO:0005564 NCIT:C8997 NCIT:C3264 embryonal neoplasm +MONDO:0005566 neonatal abstinence syndrome MONDO:0005567 NCIT:C87101 NCIT:C35046 substance withdrawal syndrome +MONDO:0005567 substance withdrawal syndrome MONDO:0002254 NCIT:C35046 NCIT:C28193 syndromic disease MONDO:0005575 colorectal cancer MONDO:0005335 NCIT:C4978 NCIT:C2956 colorectal neoplasm MONDO:0005575 colorectal cancer MONDO:0005814 NCIT:C4978 NCIT:C4572 intestinal cancer +MONDO:0005578 arthritic joint disease MONDO:0006816 NCIT:C2883 NCIT:C35760 arthropathy MONDO:0005580 esophageal squamous cell carcinoma MONDO:0005096 NCIT:C4024 NCIT:C2929 squamous cell carcinoma MONDO:0005580 esophageal squamous cell carcinoma MONDO:0019086 NCIT:C4024 NCIT:C3513 carcinoma of esophagus +MONDO:0005582 binge eating disorder MONDO:0005451 NCIT:C97162 NCIT:C89332 eating disorder MONDO:0005590 breast ductal adenocarcinoma MONDO:0004988 NCIT:C4017 NCIT:C5214 breast adenocarcinoma +MONDO:0005593 chronic periodontitis MONDO:0005076 NCIT:C35326 NCIT:C34918 periodontitis MONDO:0005595 laryngeal squamous cell carcinoma MONDO:0002358 NCIT:C4044 NCIT:C4855 laryngeal carcinoma MONDO:0005595 laryngeal squamous cell carcinoma MONDO:0010150 NCIT:C4044 NCIT:C34447 head and neck squamous cell carcinoma MONDO:0005596 cystadenocarcinoma MONDO:0004970 NCIT:C2971 NCIT:C2852 adenocarcinoma @@ -2425,6 +3080,9 @@ MONDO:0005602 ovarian teratoma MONDO:0006233 NCIT:C8110 NCIT:C98291 gonadal tera MONDO:0005602 ovarian teratoma MONDO:0011366 NCIT:C8110 NCIT:C3873 ovarian germ cell tumor MONDO:0005605 transitional cell papilloma MONDO:0002363 NCIT:C4115 NCIT:C7440 papilloma MONDO:0005606 tubular adenocarcinoma MONDO:0004970 NCIT:C65192 NCIT:C2852 adenocarcinoma +MONDO:0005607 chronic bronchitis MONDO:0003781 NCIT:C26722 NCIT:C2911 bronchitis +MONDO:0005607 chronic bronchitis MONDO:0005002 NCIT:C26722 NCIT:C3199 chronic obstructive pulmonary disease +MONDO:0005609 herpes zoster MONDO:0005608 NCIT:C71079 NCIT:C96407 varicella zoster infection MONDO:0005611 bladder transitional cell carcinoma MONDO:0004986 NCIT:C39851 NCIT:C4912 urinary bladder carcinoma MONDO:0005611 bladder transitional cell carcinoma MONDO:0040679 NCIT:C39851 NCIT:C4030 urothelial carcinoma MONDO:0005613 mesonephric adenocarcinoma MONDO:0004970 NCIT:C4072 NCIT:C2852 adenocarcinoma @@ -2432,48 +3090,124 @@ MONDO:0005614 pancreatic adenosquamous carcinoma MONDO:0006074 NCIT:C5721 NCIT:C MONDO:0005615 plasmacytoma MONDO:0004959 NCIT:C9349 NCIT:C4665 plasma cell neoplasm MONDO:0005616 pulmonary mucoepidermoid carcinoma MONDO:0003036 NCIT:C45544 NCIT:C3772 mucoepidermoid carcinoma MONDO:0005617 undifferentiated carcinoma MONDO:0004993 NCIT:C3692 NCIT:C2916 carcinoma +MONDO:0005620 cerebral amyloid angiopathy MONDO:0011057 NCIT:C84625 NCIT:C2938 cerebrovascular disorder +MONDO:0005625 cerebral malaria MONDO:0005136 NCIT:C128373 NCIT:C34797 malaria MONDO:0005627 head and neck cancer MONDO:0004992 NCIT:C4013 NCIT:C9305 cancer MONDO:0005627 head and neck cancer MONDO:0005586 NCIT:C4013 NCIT:C3077 head and neck neoplasm MONDO:0005628 male breast carcinoma MONDO:0004989 NCIT:C3862 NCIT:C4872 breast carcinoma +MONDO:0005629 Acanthamoeba keratitis MONDO:0002428 NCIT:C50450 NCIT:C34953 protozoa infectious disease +MONDO:0005629 Acanthamoeba keratitis MONDO:0023865 NCIT:C50450 NCIT:C83813 corneal infection +MONDO:0005632 acute chest syndrome MONDO:0002254 NCIT:C138179 NCIT:C28193 syndromic disease +MONDO:0005634 acute hemorrhagic conjunctivitis MONDO:0001214 NCIT:C34505 NCIT:C35195 acute conjunctivitis MONDO:0005635 adenomyoma MONDO:0000624 NCIT:C3726 NCIT:C4934 benign female reproductive system neoplasm MONDO:0005636 adenosarcoma MONDO:0001416 NCIT:C9474 NCIT:C4913 female reproductive organ cancer MONDO:0005636 adenosarcoma MONDO:0005853 NCIT:C9474 NCIT:C3729 malignant mixed neoplasm +MONDO:0005647 anogenital human papillomavirus infection MONDO:0005161 NCIT:C4820 NCIT:C27851 human papilloma virus infection +MONDO:0005648 aortic valve insufficiency MONDO:0003803 NCIT:C51223 NCIT:C78650 aortic valve disorder +MONDO:0005663 Barre-Lieou syndrome MONDO:0002254 NCIT:C34411 NCIT:C28193 syndromic disease MONDO:0005665 Bell's palsy MONDO:0002098 NCIT:C26769 NCIT:C27594 facial nerve disorder MONDO:0005665 Bell's palsy MONDO:0002782 NCIT:C26769 NCIT:C26941 cranial nerve palsy +MONDO:0005668 bird fancier's lung MONDO:0017853 NCIT:C34425 NCIT:C34369 hypersensitivity pneumonitis +MONDO:0005670 blackwater fever MONDO:0005136 NCIT:C34426 NCIT:C34797 malaria +MONDO:0005673 blind loop syndrome MONDO:0020598 NCIT:C34431 NCIT:C3214 malabsorption syndrome +MONDO:0005682 bronchopneumonia MONDO:0005249 NCIT:C26710 NCIT:C3333 pneumonia +MONDO:0005689 cannabis dependence MONDO:0005303 NCIT:C34445 NCIT:C3894 drug dependence +MONDO:0005692 cat-scratch disease MONDO:0005664 NCIT:C84620 NCIT:C84586 bartonellosis +MONDO:0005693 cauda equina syndrome MONDO:0002254 NCIT:C35436 NCIT:C28193 syndromic disease MONDO:0005694 cecal neoplasm MONDO:0005401 NCIT:C4433 NCIT:C2953 colonic neoplasm +MONDO:0005699 cervicofacial actinomycosis MONDO:0005631 NCIT:C34351 NCIT:C34350 actinomycosis +MONDO:0005700 chickenpox MONDO:0005608 NCIT:C97132 NCIT:C96407 varicella zoster infection +MONDO:0005707 coccidiosis MONDO:0002428 NCIT:C34493 NCIT:C34953 protozoa infectious disease +MONDO:0005709 common cold MONDO:0001040 NCIT:C34500 NCIT:C34837 nasopharyngitis MONDO:0005710 composite lymphoma MONDO:0005062 NCIT:C38661 NCIT:C3208 lymphoma +MONDO:0005714 congenital syphilis MONDO:0005976 NCIT:C84649 NCIT:C35055 syphilis +MONDO:0005715 congenital toxoplasmosis MONDO:0005989 NCIT:C50503 NCIT:C3418 toxoplasmosis +MONDO:0005722 croup MONDO:0004777 NCIT:C26735 NCIT:C26688 acute laryngitis +MONDO:0005723 Cryptococcal meningitis MONDO:0005724 NCIT:C174113 NCIT:C2967 cryptococcosis +MONDO:0005737 Ebola hemorrhagic fever MONDO:0018087 NCIT:C36171 NCIT:C36170 viral hemorrhagic fever +MONDO:0005742 emphysematous cholecystitis MONDO:0002155 NCIT:C35592 NCIT:C34465 cholecystitis +MONDO:0005756 ethmoid sinusitis MONDO:0005961 NCIT:C34597 NCIT:C35024 sinusitis +MONDO:0005761 filarial elephantiasis MONDO:0016075 NCIT:C128360 NCIT:C34611 filariasis +MONDO:0005769 geniculate herpes zoster MONDO:0021666 NCIT:C84763 NCIT:C27193 ear infection +MONDO:0005790 hepatitis A virus infection MONDO:0006011 NCIT:C3096 NCIT:C35124 viral hepatitis +MONDO:0005798 HIV-associated nephropathy MONDO:0024571 NCIT:C26918 NCIT:C4991 AIDS-related disorder MONDO:0005806 hypopharynx cancer MONDO:0005517 NCIT:C7190 NCIT:C7545 pharynx cancer MONDO:0005806 hypopharynx cancer MONDO:0021358 NCIT:C7190 NCIT:C3127 neoplasm of hypopharynx +MONDO:0005807 idiopathic CD4-positive T-lymphocytopenia MONDO:0003780 NCIT:C84780 NCIT:C27145 T-cell immunodeficiency +MONDO:0005808 inclusion conjunctivitis MONDO:0006668 NCIT:C116817 NCIT:C53656 bacterial conjunctivitis +MONDO:0005810 infectious mononucleosis MONDO:0005111 NCIT:C34726 NCIT:C38759 Epstein-Barr virus infection MONDO:0005814 intestinal cancer MONDO:0002516 NCIT:C4572 NCIT:C4890 digestive system cancer MONDO:0005814 intestinal cancer MONDO:0021118 NCIT:C4572 NCIT:C3141 intestinal neoplasm MONDO:0005815 pancreatic neuroendocrine neoplasm MONDO:0001933 NCIT:C27031 NCIT:C27067 endocrine pancreas disorder MONDO:0005815 pancreatic neuroendocrine neoplasm MONDO:0021040 NCIT:C27031 NCIT:C3305 pancreatic neoplasm MONDO:0005815 pancreatic neuroendocrine neoplasm MONDO:0024503 NCIT:C27031 NCIT:C27721 digestive system neuroendocrine neoplasm +MONDO:0005817 Kluver-Bucy syndrome MONDO:0002254 NCIT:C84802 NCIT:C28193 syndromic disease +MONDO:0005819 laryngeal tuberculosis MONDO:0002647 NCIT:C26895 NCIT:C26811 laryngitis +MONDO:0005822 latent syphilis MONDO:0005976 NCIT:C35056 NCIT:C35055 syphilis +MONDO:0005824 Legionnaires' disease MONDO:0004652 NCIT:C128339 NCIT:C26704 bacterial pneumonia +MONDO:0005835 Lynch syndrome MONDO:0018630 NCIT:C8494 NCIT:C120083 hereditary nonpolyposis colon cancer MONDO:0005836 male reproductive organ cancer MONDO:0002149 NCIT:C8561 NCIT:C36076 reproductive system cancer MONDO:0005836 male reproductive organ cancer MONDO:0024582 NCIT:C8561 NCIT:C3054 male reproductive system neoplasm +MONDO:0005842 maxillary sinusitis MONDO:0005961 NCIT:C34809 NCIT:C35024 sinusitis MONDO:0005843 mediastinal cancer MONDO:0003274 NCIT:C3549 NCIT:C3576 thoracic cancer MONDO:0005843 mediastinal cancer MONDO:0021386 NCIT:C3549 NCIT:C3221 neoplasm of mediastinum +MONDO:0005851 Miller Fisher syndrome MONDO:0002254 NCIT:C116958 NCIT:C28193 syndromic disease MONDO:0005853 malignant mixed neoplasm MONDO:0004992 NCIT:C3729 NCIT:C9305 cancer MONDO:0005853 malignant mixed neoplasm MONDO:0021043 NCIT:C3729 NCIT:C6930 mixed neoplasm +MONDO:0005854 mixed connective tissue disease MONDO:0005554 NCIT:C84892 NCIT:C27204 rheumatic disorder MONDO:0005858 mucinous cystadenocarcinoma MONDO:0004957 NCIT:C3776 NCIT:C26712 mucinous adenocarcinoma MONDO:0005858 mucinous cystadenocarcinoma MONDO:0005596 NCIT:C3776 NCIT:C2971 cystadenocarcinoma +MONDO:0005866 mycobacterium avium complex disease MONDO:0020590 NCIT:C36197 NCIT:C26831 mycobacterial infectious disease +MONDO:0005867 Mycoplasma pneumoniae pneumonia MONDO:0004652 NCIT:C122526 NCIT:C26704 bacterial pneumonia MONDO:0005872 nervous system cancer MONDO:0004992 NCIT:C4788 NCIT:C9305 cancer MONDO:0005872 nervous system cancer MONDO:0021248 NCIT:C4788 NCIT:C3268 nervous system neoplasm +MONDO:0005875 Newcastle disease MONDO:0005108 NCIT:C34849 NCIT:C3439 viral infectious disease +MONDO:0005878 ocular onchocerciasis MONDO:0017137 NCIT:C34862 NCIT:C34861 onchocerciasis +MONDO:0005886 oral candidiasis MONDO:0002026 NCIT:C28137 NCIT:C26711 candidiasis MONDO:0005893 pancreatic endocrine carcinoma MONDO:0005815 NCIT:C3770 NCIT:C27031 pancreatic neuroendocrine neoplasm MONDO:0005893 pancreatic endocrine carcinoma MONDO:0009831 NCIT:C3770 NCIT:C9005 malignant pancreatic neoplasm +MONDO:0005906 peritonsillar abscess MONDO:0005227 NCIT:C128322 NCIT:C26686 abscess +MONDO:0005911 pharyngoconjunctival fever MONDO:0005108 NCIT:C34924 NCIT:C3439 viral infectious disease +MONDO:0005917 placenta disorder MONDO:0024575 NCIT:C26857 NCIT:C35169 pregnancy disorder +MONDO:0005920 Plasmodium falciparum malaria MONDO:0005136 NCIT:C34798 NCIT:C34797 malaria +MONDO:0005921 Plasmodium vivax malaria MONDO:0005136 NCIT:C34800 NCIT:C34797 malaria +MONDO:0005922 pleural tuberculosis MONDO:0000986 NCIT:C26898 NCIT:C26860 pleurisy +MONDO:0005929 postpartum depression MONDO:0002050 NCIT:C92852 NCIT:C2982 depressive disorder MONDO:0005933 pulmonary blastoma MONDO:0006279 NCIT:C3732 NCIT:C45540 lung sarcomatoid carcinoma MONDO:0005941 retroperitoneal cancer MONDO:0024645 NCIT:C3537 NCIT:C3357 retroperitoneal neoplasm +MONDO:0005942 Reye syndrome MONDO:0002254 NCIT:C34983 NCIT:C28193 syndromic disease +MONDO:0005952 scarlet fever MONDO:0021680 NCIT:C94575 NCIT:C87062 streptococcal infection MONDO:0005953 scirrhous adenocarcinoma MONDO:0004970 NCIT:C2928 NCIT:C2852 adenocarcinoma +MONDO:0005960 silicosis MONDO:0015926 NCIT:C3369 NCIT:C26861 pneumoconiosis +MONDO:0005964 sphenoid sinusitis MONDO:0005961 NCIT:C35031 NCIT:C35024 sinusitis MONDO:0005966 spleen cancer MONDO:0036696 NCIT:C3539 NCIT:C3383 spleen neoplasm +MONDO:0005971 staphyloenterotoxemia MONDO:0024313 NCIT:C35037 NCIT:C35038 staphylococcal infection +MONDO:0005976 syphilis MONDO:0007000 NCIT:C35055 NCIT:C85197 Treponema infectious disease +MONDO:0005977 tabes dorsalis MONDO:0004944 NCIT:C35057 NCIT:C84935 neurosyphilis +MONDO:0005979 thoracic outlet syndrome MONDO:0002254 NCIT:C85188 NCIT:C28193 syndromic disease +MONDO:0005982 tinea infection MONDO:0021201 NCIT:C112181 NCIT:C35025 skin infection +MONDO:0005993 Trichomonas vaginitis urogenital infection MONDO:0002154 NCIT:C35083 NCIT:C35720 trichomoniasis +MONDO:0005999 tuberculous empyema MONDO:0005242 NCIT:C34575 NCIT:C34572 empyema +MONDO:0006001 urinary schistosomiasis MONDO:0015254 NCIT:C39294 NCIT:C35000 schistosomiasis +MONDO:0006005 Venezuelan equine encephalitis MONDO:0018087 NCIT:C35121 NCIT:C36170 viral hemorrhagic fever MONDO:0006006 verrucous carcinoma MONDO:0002979 NCIT:C3781 NCIT:C4102 papillary squamous carcinoma +MONDO:0006009 viral encephalitis MONDO:0020067 NCIT:C35302 NCIT:C79550 infectious encephalitis +MONDO:0006011 viral hepatitis MONDO:0002251 NCIT:C35124 NCIT:C3095 hepatitis +MONDO:0006015 Waterhouse-Friderichsen syndrome MONDO:0002254 NCIT:C85225 NCIT:C28193 syndromic disease +MONDO:0006026 urinary bladder disorder MONDO:0002118 NCIT:C2900 NCIT:C3430 urinary system disorder MONDO:0006028 cecum adenocarcinoma MONDO:0002271 NCIT:C5543 NCIT:C4349 colon adenocarcinoma MONDO:0006028 cecum adenocarcinoma MONDO:0006029 NCIT:C5543 NCIT:C3491 cecum carcinoma MONDO:0006029 cecum carcinoma MONDO:0002032 NCIT:C3491 NCIT:C4910 colon carcinoma MONDO:0006029 cecum carcinoma MONDO:0002033 NCIT:C3491 NCIT:C9329 cecum cancer +MONDO:0006030 chronic cystitis MONDO:0006032 NCIT:C27008 NCIT:C26738 cystitis +MONDO:0006031 chronic rhinosinusitis MONDO:0005961 NCIT:C35151 NCIT:C35024 sinusitis MONDO:0006034 gastric adenosquamous carcinoma MONDO:0006074 NCIT:C5474 NCIT:C3727 adenosquamous carcinoma MONDO:0006035 gastric tubular adenocarcinoma MONDO:0005606 NCIT:C5473 NCIT:C65192 tubular adenocarcinoma MONDO:0006036 granulosa cell tumor MONDO:0006055 NCIT:C3070 NCIT:C3794 sex cord-stromal tumor +MONDO:0006039 infectious colitis MONDO:0005292 NCIT:C78359 NCIT:C26723 colitis +MONDO:0006039 infectious colitis MONDO:0043424 NCIT:C78359 NCIT:C35503 digestive system infectious disorder MONDO:0006041 lung carcinoid tumor MONDO:0005454 NCIT:C4038 NCIT:C5670 lung neuroendocrine neoplasm +MONDO:0006042 meningeal tuberculosis MONDO:0006670 NCIT:C84888 NCIT:C118297 bacterial meningitis MONDO:0006043 metaplastic breast carcinoma MONDO:0006256 NCIT:C5164 NCIT:C9245 invasive breast carcinoma MONDO:0006045 ovarian clear cell adenocarcinoma MONDO:0000548 NCIT:C40078 NCIT:C40077 ovarian clear cell cancer MONDO:0006045 ovarian clear cell adenocarcinoma MONDO:0002752 NCIT:C40078 NCIT:C7700 ovarian adenocarcinoma @@ -2484,6 +3218,9 @@ MONDO:0006046 ovarian serous cystadenocarcinoma MONDO:0024621 NCIT:C7978 NCIT:C3 MONDO:0006047 pancreatic adenocarcinoma MONDO:0004970 NCIT:C8294 NCIT:C2852 adenocarcinoma MONDO:0006047 pancreatic adenocarcinoma MONDO:0005192 NCIT:C8294 NCIT:C3850 exocrine pancreatic carcinoma MONDO:0006050 pleomorphic breast carcinoma MONDO:0004953 NCIT:C5161 NCIT:C4194 invasive ductal breast carcinoma +MONDO:0006052 pulmonary tuberculosis MONDO:0018076 NCIT:C26899 NCIT:C3423 tuberculosis +MONDO:0006053 renal leiomyoma MONDO:0001572 NCIT:C159209 NCIT:C3157 leiomyoma +MONDO:0006053 renal leiomyoma MONDO:0002513 NCIT:C159209 NCIT:C4778 kidney benign neoplasm MONDO:0006054 reproductive system neoplasm MONDO:0005039 NCIT:C3674 NCIT:C4875 reproductive system disorder MONDO:0006055 sex cord-stromal tumor MONDO:0006054 NCIT:C3794 NCIT:C3674 reproductive system neoplasm MONDO:0006056 squamous cell breast carcinoma MONDO:0005096 NCIT:C5177 NCIT:C2929 squamous cell carcinoma @@ -2493,12 +3230,14 @@ MONDO:0006059 nasal cavity squamous cell carcinoma MONDO:0003212 NCIT:C8192 NCIT MONDO:0006066 acinar prostate adenocarcinoma, foamy gland variant MONDO:0002493 NCIT:C39882 NCIT:C5596 prostatic acinar adenocarcinoma MONDO:0006067 acinar prostate mucinous adenocarcinoma MONDO:0002493 NCIT:C5537 NCIT:C5596 prostatic acinar adenocarcinoma MONDO:0006067 acinar prostate mucinous adenocarcinoma MONDO:0004957 NCIT:C5537 NCIT:C26712 mucinous adenocarcinoma +MONDO:0006068 ACTH-producing pituitary gland adenoma MONDO:0006373 NCIT:C7462 NCIT:C3329 pituitary gland adenoma MONDO:0006069 ACTH-producing pituitary gland carcinoma MONDO:0017582 NCIT:C5964 NCIT:C4536 pituitary adenocarcinoma MONDO:0006076 adrenal gland neuroblastoma MONDO:0003606 NCIT:C4827 NCIT:C4396 adrenal medulla cancer MONDO:0006081 anal melanoma MONDO:0001879 NCIT:C4639 NCIT:C7379 anus cancer MONDO:0006082 anal squamous cell carcinoma MONDO:0003199 NCIT:C9161 NCIT:C9291 anal carcinoma MONDO:0006085 angiolipoma MONDO:0005106 NCIT:C3733 NCIT:C3192 lipoma MONDO:0006087 appendix adenocarcinoma MONDO:0003196 NCIT:C7718 NCIT:C9330 appendix carcinoma +MONDO:0006090 appendix hyperplastic polyp MONDO:0006249 NCIT:C96416 NCIT:C4083 hyperplastic polyp MONDO:0006091 appendix neuroendocrine tumor G1 MONDO:0015066 NCIT:C4138 NCIT:C96422 neuroendocrine tumor of the appendix, well differentiated, low or intermediate grade MONDO:0006092 appendix villous adenoma MONDO:0006088 NCIT:C5512 NCIT:C43550 appendix adenoma MONDO:0006093 ascending colon neuroendocrine tumor G1 MONDO:0006155 NCIT:C6427 NCIT:C5497 colon neuroendocrine tumor G1 @@ -2507,6 +3246,7 @@ MONDO:0006095 atypical carcinoid tumor MONDO:0005369 NCIT:C72074 NCIT:C2915 carc MONDO:0006098 atypical lobular breast hyperplasia MONDO:0002486 NCIT:C4730 NCIT:C27939 lobular neoplasia MONDO:0006102 basaloid carcinoma MONDO:0004993 NCIT:C4121 NCIT:C2916 carcinoma MONDO:0006103 benign adrenal gland pheochromocytoma MONDO:0004974 NCIT:C48305 NCIT:C3326 adrenal gland pheochromocytoma +MONDO:0006103 benign adrenal gland pheochromocytoma MONDO:0021468 NCIT:C48305 NCIT:C4895 benign neoplasm of adrenal medulla MONDO:0006104 benign carotid body paraganglioma MONDO:0021053 NCIT:C79950 NCIT:C2932 carotid body paraganglioma MONDO:0006105 benign conjunctival neoplasm MONDO:0020204 NCIT:C3622 NCIT:C2961 conjunctival tumor MONDO:0006105 benign conjunctival neoplasm MONDO:0021454 NCIT:C3622 NCIT:C4780 benign neoplasm of eye @@ -2518,24 +3258,31 @@ MONDO:0006108 bile duct adenoma MONDO:0021662 NCIT:C2942 NCIT:C2898 bile duct ne MONDO:0006112 bladder inflammatory myofibroblastic tumor MONDO:0015798 NCIT:C6177 NCIT:C6481 inflammatory myofibroblastic tumor MONDO:0006115 blast phase chronic myelogenous leukemia, BCR-ABL1 positive MONDO:0011996 NCIT:C9110 NCIT:C3174 chronic myelogenous leukemia, BCR-ABL1 positive MONDO:0006117 breast diffuse large B-cell lymphoma MONDO:0018905 NCIT:C40375 NCIT:C8851 diffuse large B-cell lymphoma +MONDO:0006118 breast fibrosis MONDO:0003724 NCIT:C3660 NCIT:C6943 non-proliferative fibrocystic change of the breast MONDO:0006119 breast mucosa-associated lymphoid tissue lymphoma MONDO:0007650 NCIT:C35688 NCIT:C3898 MALT lymphoma +MONDO:0006120 C-cell hyperplasia MONDO:0003240 NCIT:C46100 NCIT:C26893 thyroid gland disorder +MONDO:0006120 C-cell hyperplasia MONDO:0005043 NCIT:C46100 NCIT:C3113 hyperplasia MONDO:0006123 cardiac rhabdomyoma MONDO:0036688 NCIT:C6739 NCIT:C3358 rhabdomyoma MONDO:0006126 cecum neuroendocrine tumor G1 MONDO:0005694 NCIT:C5501 NCIT:C4433 cecal neoplasm MONDO:0006126 cecum neuroendocrine tumor G1 MONDO:0006155 NCIT:C5501 NCIT:C5497 colon neuroendocrine tumor G1 MONDO:0006128 central nervous system anaplastic large cell lymphoma MONDO:0020325 NCIT:C5322 NCIT:C3720 anaplastic large cell lymphoma MONDO:0006130 central nervous system neoplasm MONDO:0002602 NCIT:C9293 NCIT:C2934 central nervous system disorder MONDO:0006130 central nervous system neoplasm MONDO:0021248 NCIT:C9293 NCIT:C3268 nervous system neoplasm -MONDO:0006132 cervical adenoid basal carcinoma MONDO:0005131 NCIT:C40213 NCIT:C9039 cervical carcinoma MONDO:0006133 cervical adenoid cystic carcinoma MONDO:0004971 NCIT:C6346 NCIT:C2970 adenoid cystic carcinoma MONDO:0006134 cervical adenosquamous carcinoma MONDO:0006074 NCIT:C4519 NCIT:C3727 adenosquamous carcinoma MONDO:0006135 cervical clear cell adenocarcinoma MONDO:0005004 NCIT:C6344 NCIT:C3766 clear cell adenocarcinoma +MONDO:0006138 cervical large cell neuroendocrine carcinoma MONDO:0005057 NCIT:C40214 NCIT:C6875 large cell neuroendocrine carcinoma MONDO:0006140 cervical mucinous adenocarcinoma, minimal deviation variant MONDO:0002742 NCIT:C40206 NCIT:C36095 cervical mucinous adenocarcinoma MONDO:0006141 cervical villoglandular adenocarcinoma MONDO:0003204 NCIT:C40208 NCIT:C4142 villous adenocarcinoma MONDO:0006143 cervical squamous cell carcinoma MONDO:0005096 NCIT:C4028 NCIT:C2929 squamous cell carcinoma MONDO:0006143 cervical squamous cell carcinoma MONDO:0005131 NCIT:C4028 NCIT:C9039 cervical carcinoma MONDO:0006144 cervical Wilms tumor MONDO:0002974 NCIT:C40236 NCIT:C9311 cervical cancer MONDO:0006144 cervical Wilms tumor MONDO:0006058 NCIT:C40236 NCIT:C3267 Wilms tumor +MONDO:0006146 chondroid hamartoma MONDO:0006499 NCIT:C42589 NCIT:C3075 hamartoma MONDO:0006149 clear cell papillary cystadenoma MONDO:0021091 NCIT:C65203 NCIT:C2974 papillary cystadenoma +MONDO:0006152 colon inflammatory polyp MONDO:0021400 NCIT:C5517 NCIT:C2954 polyp of colon +MONDO:0006153 colon juvenile polyp MONDO:0006161 NCIT:C5518 NCIT:C5681 colorectal juvenile polyp +MONDO:0006153 colon juvenile polyp MONDO:0021400 NCIT:C5518 NCIT:C2954 polyp of colon MONDO:0006155 colon neuroendocrine tumor G1 MONDO:0006162 NCIT:C5497 NCIT:C96160 colorectal neuroendocrine tumor G1 MONDO:0006155 colon neuroendocrine tumor G1 MONDO:0015067 NCIT:C5497 NCIT:C135212 neuroendocrine tumor of the colon, well differentiated, low or intermediate grade tumor MONDO:0006156 colon sessile serrated adenoma/polyp MONDO:0000527 NCIT:C96464 NCIT:C3864 colon adenoma @@ -2543,14 +3290,20 @@ MONDO:0006156 colon sessile serrated adenoma/polyp MONDO:0006164 NCIT:C96464 NCI MONDO:0006156 colon sessile serrated adenoma/polyp MONDO:0021400 NCIT:C96464 NCIT:C2954 polyp of colon MONDO:0006157 colorectal adenosquamous carcinoma MONDO:0006074 NCIT:C43589 NCIT:C3727 adenosquamous carcinoma MONDO:0006159 colorectal gastrointestinal stromal tumor MONDO:0005335 NCIT:C27735 NCIT:C2956 colorectal neoplasm +MONDO:0006160 colorectal hamartoma MONDO:0006231 NCIT:C96474 NCIT:C96475 gastrointestinal hamartoma +MONDO:0006160 colorectal hamartoma MONDO:0021392 NCIT:C96474 NCIT:C5679 polyp of large intestine +MONDO:0006161 colorectal juvenile polyp MONDO:0006160 NCIT:C5681 NCIT:C96474 colorectal hamartoma +MONDO:0006161 colorectal juvenile polyp MONDO:0006258 NCIT:C5681 NCIT:C3826 juvenile polyp MONDO:0006162 colorectal neuroendocrine tumor G1 MONDO:0021533 NCIT:C96160 NCIT:C4637 intestinal neuroendocrine tumor G1 MONDO:0006163 colorectal serrated adenocarcinoma MONDO:0005008 NCIT:C96485 NCIT:C5105 colorectal adenocarcinoma MONDO:0006164 colorectal sessile serrated adenoma/polyp MONDO:0005484 NCIT:C83176 NCIT:C5673 colorectal adenoma MONDO:0006165 colorectal squamous cell carcinoma MONDO:0005096 NCIT:C43588 NCIT:C2929 squamous cell carcinoma MONDO:0006165 colorectal squamous cell carcinoma MONDO:0024331 NCIT:C43588 NCIT:C2955 colorectal carcinoma +MONDO:0006170 conjunctival disorder MONDO:0005328 NCIT:C27605 NCIT:C26767 eye disorder MONDO:0006172 conjunctival nevus MONDO:0005073 NCIT:C4551 NCIT:C7570 melanocytic nevus MONDO:0006172 conjunctival nevus MONDO:0006105 NCIT:C4551 NCIT:C3622 benign conjunctival neoplasm MONDO:0006174 cortisol-producing adrenal cortex adenoma MONDO:0003924 NCIT:C48449 NCIT:C9003 adrenal cortex adenoma +MONDO:0006176 cribriform carcinoma MONDO:0004993 NCIT:C3680 NCIT:C2916 carcinoma MONDO:0006179 desmoplastic ameloblastoma MONDO:0017795 NCIT:C39758 NCIT:C4313 ameloblastoma MONDO:0006180 digestive system adenoma MONDO:0004972 NCIT:C36207 NCIT:C2855 adenoma MONDO:0006181 digestive system carcinoma MONDO:0002516 NCIT:C96963 NCIT:C4890 digestive system cancer @@ -2569,6 +3322,7 @@ MONDO:0006195 endometrial polyp MONDO:0004701 NCIT:C6433 NCIT:C3662 uterine poly MONDO:0006196 endometrial serous adenocarcinoma MONDO:0005278 NCIT:C27838 NCIT:C40101 serous adenocarcinoma MONDO:0006198 endometrial squamous cell carcinoma MONDO:0002447 NCIT:C8719 NCIT:C7558 endometrial carcinoma MONDO:0006198 endometrial squamous cell carcinoma MONDO:0005096 NCIT:C8719 NCIT:C2929 squamous cell carcinoma +MONDO:0006199 endometrial undifferentiated carcinoma MONDO:0002447 NCIT:C40156 NCIT:C7558 endometrial carcinoma MONDO:0006199 endometrial undifferentiated carcinoma MONDO:0005617 NCIT:C40156 NCIT:C3692 undifferentiated carcinoma MONDO:0006200 epithelioid cell uveal melanoma MONDO:0002973 NCIT:C35780 NCIT:C4236 epithelioid cell melanoma MONDO:0006200 epithelioid cell uveal melanoma MONDO:0006486 NCIT:C35780 NCIT:C7712 uveal melanoma @@ -2580,6 +3334,8 @@ MONDO:0006208 fallopian tube serous adenocarcinoma MONDO:0002746 NCIT:C40099 NCI MONDO:0006208 fallopian tube serous adenocarcinoma MONDO:0005278 NCIT:C40099 NCIT:C40101 serous adenocarcinoma MONDO:0006209 fibroblastic neoplasm MONDO:0002616 NCIT:C7075 NCIT:C7059 mesenchymal cell neoplasm MONDO:0006210 fibrolamellar hepatocellular carcinoma MONDO:0007256 NCIT:C4131 NCIT:C3099 hepatocellular carcinoma +MONDO:0006211 fibrous hamartoma of infancy MONDO:0024478 NCIT:C3942 NCIT:C40427 mesenchymal hamartoma +MONDO:0006212 flat urothelial hyperplasia MONDO:0024483 NCIT:C27878 NCIT:C27877 urothelial hyperplasia MONDO:0006213 floor of mouth mucoepidermoid carcinoma MONDO:0021343 NCIT:C8178 NCIT:C9319 carcinoma of floor of mouth MONDO:0006213 floor of mouth mucoepidermoid carcinoma MONDO:0044964 NCIT:C8178 NCIT:C8177 oral cavity mucoepidermoid carcinoma MONDO:0006215 gallbladder adenocarcinoma MONDO:0003220 NCIT:C9166 NCIT:C3844 gallbladder carcinoma @@ -2594,16 +3350,19 @@ MONDO:0006221 gastric adenoma MONDO:0008277 NCIT:C7699 NCIT:C3954 stomach polyp MONDO:0006222 gastric choriocarcinoma MONDO:0003112 NCIT:C95749 NCIT:C5486 malignant gastric germ cell tumor MONDO:0006222 gastric choriocarcinoma MONDO:0003578 NCIT:C95749 NCIT:C8885 extragonadal nonseminomatous germ cell tumor MONDO:0006222 gastric choriocarcinoma MONDO:0005207 NCIT:C95749 NCIT:C2948 choriocarcinoma +MONDO:0006224 gastric hamartomatous polyp MONDO:0006231 NCIT:C4373 NCIT:C96475 gastrointestinal hamartoma MONDO:0006225 gastric mantle cell lymphoma MONDO:0018876 NCIT:C27440 NCIT:C4337 mantle cell lymphoma MONDO:0006226 gastric mucosa-associated lymphoid tissue lymphoma MONDO:0042493 NCIT:C5266 NCIT:C27235 gastric non-hodgkin lymphoma MONDO:0006227 gastric neuroendocrine tumor G1 MONDO:0015062 NCIT:C4635 NCIT:C95871 gastric neuroendocrine tumor, well differentiated, low or intermediate grade MONDO:0006228 gastric papillary adenocarcinoma MONDO:0002512 NCIT:C5472 NCIT:C2853 papillary adenocarcinoma MONDO:0006230 gastric squamous cell carcinoma MONDO:0004950 NCIT:C5475 NCIT:C4911 gastric carcinoma MONDO:0006230 gastric squamous cell carcinoma MONDO:0005096 NCIT:C5475 NCIT:C2929 squamous cell carcinoma +MONDO:0006231 gastrointestinal hamartoma MONDO:0024292 NCIT:C96475 NCIT:C35516 gastrointestinal polyp MONDO:0006233 gonadal teratoma MONDO:0002601 NCIT:C98291 NCIT:C3403 teratoma -MONDO:0006234 grade III prostatic intraepithelial neoplasia MONDO:0005159 NCIT:C3642 NCIT:C4863 prostate carcinoma MONDO:0006235 granular cell tumor MONDO:0002547 NCIT:C3474 NCIT:C4972 nerve sheath neoplasm MONDO:0006237 granulocytic sarcoma MONDO:0006861 NCIT:C35815 NCIT:C3520 myeloid sarcoma +MONDO:0006238 growth hormone-producing pituitary gland adenoma MONDO:0006373 NCIT:C7461 NCIT:C3329 pituitary gland adenoma +MONDO:0006239 head and neck paraganglioma MONDO:0005586 NCIT:C5327 NCIT:C3077 head and neck neoplasm MONDO:0006243 hepatoid adenocarcinoma MONDO:0004970 NCIT:C66950 NCIT:C2852 adenocarcinoma MONDO:0006244 HER2 positive breast carcinoma MONDO:0006116 NCIT:C53556 NCIT:C53553 breast carcinoma by gene expression profile MONDO:0006245 hidradenocarcinoma MONDO:0005004 NCIT:C54664 NCIT:C3766 clear cell adenocarcinoma @@ -2619,6 +3378,7 @@ MONDO:0006256 invasive breast carcinoma MONDO:0004989 NCIT:C9245 NCIT:C4872 brea MONDO:0006256 invasive breast carcinoma MONDO:0040677 NCIT:C9245 NCIT:C9480 invasive carcinoma MONDO:0006257 jejunal neuroendocrine tumor G1 MONDO:0000540 NCIT:C6429 NCIT:C4638 small intestinal neuroendocrine tumor G1 MONDO:0006257 jejunal neuroendocrine tumor G1 MONDO:0015064 NCIT:C6429 NCIT:C135090 jejunal neuroendocrine tumor, well differentiated, low or intermediate grade +MONDO:0006258 juvenile polyp MONDO:0006231 NCIT:C3826 NCIT:C96475 gastrointestinal hamartoma MONDO:0006262 lacrimal gland adenoid cystic carcinoma MONDO:0004971 NCIT:C4540 NCIT:C2970 adenoid cystic carcinoma MONDO:0006264 laryngeal adenoid cystic carcinoma MONDO:0002358 NCIT:C9462 NCIT:C4855 laryngeal carcinoma MONDO:0006264 laryngeal adenoid cystic carcinoma MONDO:0004971 NCIT:C9462 NCIT:C2970 adenoid cystic carcinoma @@ -2626,7 +3386,6 @@ MONDO:0006266 Leydig cell tumor MONDO:0006055 NCIT:C3188 NCIT:C3794 sex cord-str MONDO:0006267 liver cavernous hemangioma MONDO:0002404 NCIT:C96839 NCIT:C3869 liver hemangioma MONDO:0006267 liver cavernous hemangioma MONDO:0003155 NCIT:C96839 NCIT:C3086 cavernous hemangioma MONDO:0006270 lobular breast carcinoma in situ MONDO:0002486 NCIT:C4018 NCIT:C27939 lobular neoplasia -MONDO:0006272 low grade fibromyxoid sarcoma MONDO:0005164 NCIT:C45202 NCIT:C3043 fibrosarcoma MONDO:0006273 low grade fibromyxoid sarcoma with giant collagen rosettes MONDO:0006272 NCIT:C45203 NCIT:C45202 low grade fibromyxoid sarcoma MONDO:0006275 lung giant cell carcinoma MONDO:0006279 NCIT:C4452 NCIT:C45540 lung sarcomatoid carcinoma MONDO:0006276 lung inflammatory myofibroblastic tumor MONDO:0015798 NCIT:C39740 NCIT:C6481 inflammatory myofibroblastic tumor @@ -2647,6 +3406,7 @@ MONDO:0006290 malignant germ cell tumor MONDO:0004992 NCIT:C4925 NCIT:C9305 canc MONDO:0006290 malignant germ cell tumor MONDO:0005040 NCIT:C4925 NCIT:C3708 germ cell tumor MONDO:0006291 malignant jugulotympanic paraganglioma MONDO:0021064 NCIT:C4623 NCIT:C3061 jugulotympanic paraganglioma MONDO:0006292 malignant mesothelioma MONDO:0004992 NCIT:C4456 NCIT:C9305 cancer +MONDO:0006292 malignant mesothelioma MONDO:0005065 NCIT:C4456 NCIT:C3234 mesothelioma MONDO:0006294 pleural cancer MONDO:0003274 NCIT:C3547 NCIT:C3576 thoracic cancer MONDO:0006294 pleural cancer MONDO:0021065 NCIT:C3547 NCIT:C3332 pleural neoplasm MONDO:0006295 malignant urinary system neoplasm MONDO:0021066 NCIT:C9297 NCIT:C3431 urinary system neoplasm @@ -2662,11 +3422,14 @@ MONDO:0006304 minor salivary gland adenocarcinoma MONDO:0045069 NCIT:C5948 NCIT: MONDO:0006306 mixed lobular and ductal breast carcinoma MONDO:0004988 NCIT:C5160 NCIT:C5214 breast adenocarcinoma MONDO:0006309 mucinous gastric adenocarcinoma MONDO:0004957 NCIT:C5248 NCIT:C26712 mucinous adenocarcinoma MONDO:0006312 myofibroma MONDO:0003342 NCIT:C7052 NCIT:C6529 benign perivascular tumor +MONDO:0006314 nasal cavity polyp MONDO:0002232 NCIT:C3256 NCIT:C27102 nasal cavity disorder +MONDO:0006314 nasal cavity polyp MONDO:0005079 NCIT:C3256 NCIT:C3340 polyp MONDO:0006316 neuroblastic tumor MONDO:0005462 NCIT:C6963 NCIT:C3716 primitive neuroectodermal tumor MONDO:0006317 neurothekeoma MONDO:0002547 NCIT:C7018 NCIT:C4972 nerve sheath neoplasm MONDO:0006320 non-cutaneous melanoma MONDO:0005105 NCIT:C8711 NCIT:C3224 melanoma MONDO:0006321 non-functioning adrenal cortex adenoma MONDO:0003924 NCIT:C48458 NCIT:C9003 adrenal cortex adenoma MONDO:0006321 non-functioning adrenal cortex adenoma MONDO:0021119 NCIT:C48458 NCIT:C94760 non-functioning endocrine neoplasm +MONDO:0006322 non-neoplastic bile duct disorder MONDO:0002887 NCIT:C35774 NCIT:C96716 bile duct disorder MONDO:0006324 normal breast-like subtype of breast carcinoma MONDO:0006116 NCIT:C53557 NCIT:C53553 breast carcinoma by gene expression profile MONDO:0006325 ocular melanoma MONDO:0002236 NCIT:C8562 NCIT:C4767 ocular cancer MONDO:0006325 ocular melanoma MONDO:0005105 NCIT:C8562 NCIT:C3224 melanoma @@ -2679,6 +3442,7 @@ MONDO:0006335 ovarian endometrioid adenocarcinoma MONDO:0002752 NCIT:C7979 NCIT: MONDO:0006335 ovarian endometrioid adenocarcinoma MONDO:0003812 NCIT:C7979 NCIT:C40051 ovarian endometrial cancer MONDO:0006335 ovarian endometrioid adenocarcinoma MONDO:0005026 NCIT:C7979 NCIT:C3769 endometrioid adenocarcinoma MONDO:0006336 ovarian endometrioid adenocarcinoma with squamous differentiation MONDO:0006335 NCIT:C40061 NCIT:C7979 ovarian endometrioid adenocarcinoma +MONDO:0006337 ovarian endometriosis MONDO:0005133 NCIT:C27628 NCIT:C3014 endometriosis MONDO:0006339 ovarian microcystic stromal tumor MONDO:0024387 NCIT:C121953 NCIT:C6803 benign ovarian sex cord-stromal tumor MONDO:0006340 ovarian serous adenofibroma MONDO:0024886 NCIT:C40031 NCIT:C67090 serous adenofibroma MONDO:0006343 ovarian transitional cell carcinoma MONDO:0005140 NCIT:C5240 NCIT:C4908 ovarian carcinoma @@ -2697,6 +3461,7 @@ MONDO:0006350 papillary transitional cell carcinoma MONDO:0006509 NCIT:C4122 NCI MONDO:0006351 parachordoma MONDO:0002380 NCIT:C6581 NCIT:C40392 myoepithelial tumor MONDO:0006352 paranasal sinus adenoid cystic carcinoma MONDO:0000380 NCIT:C6019 NCIT:C6014 paranasal sinus carcinoma MONDO:0006352 paranasal sinus adenoid cystic carcinoma MONDO:0004971 NCIT:C6019 NCIT:C2970 adenoid cystic carcinoma +MONDO:0006354 parathyroid hyperplasia MONDO:0005043 NCIT:C3989 NCIT:C3113 hyperplasia MONDO:0006356 parotid gland adenoid cystic carcinoma MONDO:0021331 NCIT:C5937 NCIT:C6791 carcinoma of parotid gland MONDO:0006356 parotid gland adenoid cystic carcinoma MONDO:0045063 NCIT:C5937 NCIT:C5905 major salivary gland adenoid cystic carcinoma MONDO:0006357 parotid gland carcinoma ex pleomorphic adenoma MONDO:0006285 NCIT:C5974 NCIT:C5975 major salivary gland carcinoma ex pleomorphic adenoma @@ -2704,10 +3469,14 @@ MONDO:0006357 parotid gland carcinoma ex pleomorphic adenoma MONDO:0021331 NCIT: MONDO:0006358 parotid gland squamous cell carcinoma MONDO:0021331 NCIT:C5942 NCIT:C6791 carcinoma of parotid gland MONDO:0006360 penile carcinoma MONDO:0001325 NCIT:C9061 NCIT:C7547 penile cancer MONDO:0006361 penile fibromatosis MONDO:0016037 NCIT:C3316 NCIT:C6814 superficial Fibromatosis +MONDO:0006362 peritoneal mesothelioma MONDO:0005065 NCIT:C7633 NCIT:C3234 mesothelioma MONDO:0006362 peritoneal mesothelioma MONDO:0006901 NCIT:C7633 NCIT:C3322 peritoneal neoplasm MONDO:0006363 peritoneal multicystic mesothelioma MONDO:0006362 NCIT:C6536 NCIT:C7633 peritoneal mesothelioma MONDO:0006364 peritoneal well differentiated papillary mesothelioma MONDO:0003688 NCIT:C45661 NCIT:C7635 well differentiated papillary mesothelioma MONDO:0006364 peritoneal well differentiated papillary mesothelioma MONDO:0006362 NCIT:C45661 NCIT:C7633 peritoneal mesothelioma +MONDO:0006365 Peutz-Jeghers polyp MONDO:0006231 NCIT:C4733 NCIT:C96475 gastrointestinal hamartoma +MONDO:0006366 Peutz-Jeghers polyp of the stomach MONDO:0006224 NCIT:C36205 NCIT:C4373 gastric hamartomatous polyp +MONDO:0006366 Peutz-Jeghers polyp of the stomach MONDO:0006365 NCIT:C36205 NCIT:C4733 Peutz-Jeghers polyp MONDO:0006367 pharyngeal adenoid cystic carcinoma MONDO:0004971 NCIT:C5818 NCIT:C2970 adenoid cystic carcinoma MONDO:0006367 pharyngeal adenoid cystic carcinoma MONDO:0021345 NCIT:C5818 NCIT:C9466 carcinoma of pharynx MONDO:0006369 pineal parenchymal tumor of intermediate differentiation MONDO:0024890 NCIT:C6967 NCIT:C6965 pineal parenchymal cell neoplasm @@ -2727,6 +3496,7 @@ MONDO:0006387 primary pulmonary diffuse large B-cell lymphoma MONDO:0020644 NCIT MONDO:0006388 prolactin-producing pituitary gland carcinoma MONDO:0017582 NCIT:C5962 NCIT:C4536 pituitary adenocarcinoma MONDO:0006389 prostate rhabdomyosarcoma MONDO:0002854 NCIT:C5522 NCIT:C7731 prostate sarcoma MONDO:0006389 prostate rhabdomyosarcoma MONDO:0005212 NCIT:C5522 NCIT:C3359 rhabdomyosarcoma +MONDO:0006392 rectal hyperplastic polyp MONDO:0021398 NCIT:C5619 NCIT:C3351 polyp of rectum MONDO:0006393 rectal traditional serrated adenoma MONDO:0000530 NCIT:C96463 NCIT:C5546 rectum adenoma MONDO:0006395 rectal tubulovillous adenoma MONDO:0024662 NCIT:C5620 NCIT:C5675 colorectal tubulovillous adenoma MONDO:0006398 retroperitoneal inflammatory myofibroblastic tumor MONDO:0015798 NCIT:C39741 NCIT:C6481 inflammatory myofibroblastic tumor @@ -2782,6 +3552,8 @@ MONDO:0006462 thyroid gland diffuse large B-cell lymphoma MONDO:0018905 NCIT:C60 MONDO:0006463 thyroid gland mucoepidermoid carcinoma MONDO:0003036 NCIT:C38762 NCIT:C3772 mucoepidermoid carcinoma MONDO:0006464 thyroid gland mucosa-associated lymphoid tissue lymphoma MONDO:0007650 NCIT:C7601 NCIT:C3898 MALT lymphoma MONDO:0006466 thyroid gland spindle cell tumor with thymus-like differentiation MONDO:0015075 NCIT:C46105 NCIT:C4815 thyroid gland carcinoma +MONDO:0006467 thyroid gland squamous cell carcinoma MONDO:0005096 NCIT:C46008 NCIT:C2929 squamous cell carcinoma +MONDO:0006467 thyroid gland squamous cell carcinoma MONDO:0015075 NCIT:C46008 NCIT:C4815 thyroid gland carcinoma MONDO:0006468 thyroid gland undifferentiated (anaplastic) carcinoma MONDO:0005232 NCIT:C3878 NCIT:C3780 large cell carcinoma MONDO:0006468 thyroid gland undifferentiated (anaplastic) carcinoma MONDO:0005617 NCIT:C3878 NCIT:C3692 undifferentiated carcinoma MONDO:0006468 thyroid gland undifferentiated (anaplastic) carcinoma MONDO:0015075 NCIT:C3878 NCIT:C4815 thyroid gland carcinoma @@ -2807,43 +3579,104 @@ MONDO:0006488 vaginal carcinosarcoma MONDO:0037746 NCIT:C40278 NCIT:C40276 malig MONDO:0006490 vaginal squamous cell carcinoma MONDO:0001806 NCIT:C180915 NCIT:C40242 vaginal squamous tumor MONDO:0006490 vaginal squamous cell carcinoma MONDO:0005096 NCIT:C180915 NCIT:C2929 squamous cell carcinoma MONDO:0006490 vaginal squamous cell carcinoma MONDO:0015867 NCIT:C180915 NCIT:C3917 vaginal carcinoma +MONDO:0006491 vulvar lichen sclerosus MONDO:0001938 NCIT:C27723 NCIT:C34565 vulvar dystrophy +MONDO:0006491 vulvar lichen sclerosus MONDO:0007899 NCIT:C27723 NCIT:C26817 lichen sclerosus et atrophicus MONDO:0006493 Warthin tumor MONDO:0036976 NCIT:C2854 NCIT:C4092 benign epithelial neoplasm MONDO:0006498 adenomatous colon polyp MONDO:0000527 NCIT:C96479 NCIT:C3864 colon adenoma MONDO:0006498 adenomatous colon polyp MONDO:0021400 NCIT:C96479 NCIT:C2954 polyp of colon MONDO:0006500 hemangioma MONDO:0024286 NCIT:C3085 NCIT:C8537 benign blood vessel neoplasm +MONDO:0006502 acute respiratory distress syndrome MONDO:0002254 NCIT:C3353 NCIT:C28193 syndromic disease +MONDO:0006507 hereditary hemochromatosis MONDO:0001436 NCIT:C84481 NCIT:C82892 hemosiderosis MONDO:0006509 papillary carcinoma MONDO:0004993 NCIT:C2927 NCIT:C2916 carcinoma MONDO:0006509 papillary carcinoma MONDO:0021096 NCIT:C2927 NCIT:C8429 papillary epithelial neoplasm +MONDO:0006515 acute pancreatitis MONDO:0004982 NCIT:C95437 NCIT:C3306 pancreatitis MONDO:0006517 childhood malignant neoplasm MONDO:0004992 NCIT:C4005 NCIT:C9305 cancer MONDO:0006517 childhood malignant neoplasm MONDO:0021079 NCIT:C4005 NCIT:C6283 childhood neoplasm MONDO:0006519 rectal cancer MONDO:0002165 NCIT:C7418 NCIT:C3350 rectal neoplasm MONDO:0006519 rectal cancer MONDO:0005575 NCIT:C7418 NCIT:C4978 colorectal cancer +MONDO:0006520 Achenbach syndrome MONDO:0002254 NCIT:C35467 NCIT:C28193 syndromic disease +MONDO:0006521 acneiform dermatitis MONDO:0002406 NCIT:C35277 NCIT:C2983 dermatitis +MONDO:0006522 acquired keratosis MONDO:0006566 NCIT:C34746 NCIT:C34745 keratosis +MONDO:0006523 acrodermatitis MONDO:0002406 NCIT:C84532 NCIT:C2983 dermatitis +MONDO:0006525 allergic contact dermatitis MONDO:0005480 NCIT:C26998 NCIT:C26743 contact dermatitis +MONDO:0006533 cholesteatoma of middle ear MONDO:0006530 NCIT:C3654 NCIT:C2944 cholesteatoma MONDO:0006539 diffuse lipomatosis MONDO:0006574 NCIT:C6504 NCIT:C3193 lipomatosis +MONDO:0006544 erythema infectiosum MONDO:0005108 NCIT:C84695 NCIT:C3439 viral infectious disease +MONDO:0006549 fibroepithelial polyp of the anus MONDO:0060765 NCIT:C4435 NCIT:C3337 fibroepithelial polyp +MONDO:0006549 fibroepithelial polyp of the anus MONDO:0060766 NCIT:C4435 NCIT:C3957 anal polyp +MONDO:0006550 fibroepithelial polyp of urethra MONDO:0060765 NCIT:C6170 NCIT:C3337 fibroepithelial polyp +MONDO:0006555 granulomatous dermatitis MONDO:0002406 NCIT:C3505 NCIT:C2983 dermatitis MONDO:0006557 hemangioma of subcutaneous tissue MONDO:0006500 NCIT:C8540 NCIT:C3085 hemangioma MONDO:0006563 inverted follicular keratosis MONDO:0008420 NCIT:C9007 NCIT:C9006 seborrheic keratosis +MONDO:0006564 irritant dermatitis MONDO:0005480 NCIT:C27151 NCIT:C26743 contact dermatitis +MONDO:0006567 kernicterus due to isoimmunization MONDO:0018477 NCIT:C101270 NCIT:C84799 bilirubin encephalopathy +MONDO:0006572 lichen planus MONDO:0002406 NCIT:C3189 NCIT:C2983 dermatitis +MONDO:0006573 lipodystrophy MONDO:0005066 NCIT:C97093 NCIT:C3235 metabolic disease MONDO:0006574 lipomatosis MONDO:0044983 NCIT:C3193 NCIT:C4502 benign lipomatous neoplasm +MONDO:0006577 maxillary sinus cholesteatoma MONDO:0006530 NCIT:C35868 NCIT:C2944 cholesteatoma MONDO:0006578 mediastinal lipomatosis MONDO:0006574 NCIT:C27488 NCIT:C3193 lipomatosis MONDO:0006579 melanoacanthoma MONDO:0008420 NCIT:C27548 NCIT:C9006 seborrheic keratosis +MONDO:0006585 neurodermatitis MONDO:0002406 NCIT:C111963 NCIT:C2983 dermatitis +MONDO:0006590 palmoplantar keratosis MONDO:0006566 NCIT:C34748 NCIT:C34745 keratosis MONDO:0006593 pelvic lipomatosis MONDO:0006574 NCIT:C27486 NCIT:C3193 lipomatosis +MONDO:0006601 pityriasis rosea MONDO:0002406 NCIT:C26855 NCIT:C2983 dermatitis +MONDO:0006608 seborrheic dermatitis MONDO:0002406 NCIT:C111888 NCIT:C2983 dermatitis +MONDO:0006611 skin sarcoidosis MONDO:0019338 NCIT:C34996 NCIT:C34995 sarcoidosis MONDO:0006612 steroid lipomatosis MONDO:0006574 NCIT:C27487 NCIT:C3193 lipomatosis +MONDO:0006620 vulva fibroepithelial polyp MONDO:0021396 NCIT:C6857 NCIT:C3978 polyp of vulva +MONDO:0006620 vulva fibroepithelial polyp MONDO:0060765 NCIT:C6857 NCIT:C3337 fibroepithelial polyp MONDO:0006621 vulvar inverted follicular keratosis MONDO:0006563 NCIT:C40291 NCIT:C9007 inverted follicular keratosis MONDO:0006621 vulvar inverted follicular keratosis MONDO:0006622 NCIT:C40291 NCIT:C6375 vulvar seborrheic keratosis MONDO:0006622 vulvar seborrheic keratosis MONDO:0002195 NCIT:C6375 NCIT:C40283 vulvar squamous neoplasm MONDO:0006622 vulvar seborrheic keratosis MONDO:0008420 NCIT:C6375 NCIT:C9006 seborrheic keratosis +MONDO:0006626 diabetic neuropathy MONDO:0005244 NCIT:C26748 NCIT:C4731 peripheral neuropathy +MONDO:0006629 osteoarthritis, hip MONDO:0005178 NCIT:C34876 NCIT:C3293 osteoarthritis +MONDO:0006633 acalculous cholecystitis MONDO:0002155 NCIT:C35578 NCIT:C34465 cholecystitis +MONDO:0006637 acute kidney tubular necrosis MONDO:0002492 NCIT:C34749 NCIT:C26808 acute kidney failure MONDO:0006639 adrenal cortex carcinoma MONDO:0021312 NCIT:C9325 NCIT:C9327 malignant tumor of adrenal cortex +MONDO:0006644 alcoholic liver cirrhosis MONDO:0005155 NCIT:C34782 NCIT:C2951 cirrhosis of liver +MONDO:0006644 alcoholic liver cirrhosis MONDO:0043693 NCIT:C34782 NCIT:C34783 alcoholic liver diseases MONDO:0006646 angioleiomyoma MONDO:0003342 NCIT:C3747 NCIT:C6529 benign perivascular tumor +MONDO:0006651 anterior uveitis MONDO:0020283 NCIT:C35109 NCIT:C26909 uveitis +MONDO:0006653 anthracosilicosis MONDO:0015926 NCIT:C34389 NCIT:C26861 pneumoconiosis +MONDO:0006654 anthracosis MONDO:0015926 NCIT:C34390 NCIT:C26861 pneumoconiosis +MONDO:0006656 aortitis MONDO:0018882 NCIT:C97085 NCIT:C26912 vasculitis +MONDO:0006662 aseptic meningitis MONDO:0021108 NCIT:C118299 NCIT:C26828 meningitis +MONDO:0006665 chronic atrophic gastritis MONDO:0005001 NCIT:C7405 NCIT:C26929 chronic gastritis +MONDO:0006668 bacterial conjunctivitis MONDO:0005113 NCIT:C53656 NCIT:C2890 bacterial infectious disease +MONDO:0006670 bacterial meningitis MONDO:0004796 NCIT:C118297 NCIT:C79598 infectious meningitis +MONDO:0006670 bacterial meningitis MONDO:0005113 NCIT:C118297 NCIT:C2890 bacterial infectious disease +MONDO:0006676 beriberi MONDO:0042976 NCIT:C34418 NCIT:C35129 vitamin B deficiency +MONDO:0006683 brachial plexus neuropathy MONDO:0024432 NCIT:C27194 NCIT:C27744 nerve plexus disorder +MONDO:0006687 burning mouth syndrome MONDO:0002254 NCIT:C62545 NCIT:C28193 syndromic disease +MONDO:0006694 cerebral atherosclerosis MONDO:0005311 NCIT:C34459 NCIT:C35768 atherosclerosis MONDO:0006700 choroid cancer MONDO:0002659 NCIT:C3566 NCIT:C6105 uveal cancer MONDO:0006700 choroid cancer MONDO:0021258 NCIT:C3566 NCIT:C2949 choroid neoplasm +MONDO:0006711 constrictive pericarditis MONDO:0005904 NCIT:C78246 NCIT:C34915 pericarditis MONDO:0006717 cutaneous fibrous histiocytoma MONDO:0002989 NCIT:C6801 NCIT:C3739 benign fibrous histiocytoma +MONDO:0006733 dry eye syndrome MONDO:0002254 NCIT:C34553 NCIT:C28193 syndromic disease MONDO:0006734 benign duodenal neoplasm MONDO:0021375 NCIT:C4775 NCIT:C2995 tumor of duodenum MONDO:0006734 benign duodenal neoplasm MONDO:0021501 NCIT:C4775 NCIT:C3600 benign neoplasm of small intestine MONDO:0006738 eccrine acrospiroma MONDO:0021489 NCIT:C27273 NCIT:C4879 benign neoplasm of sweat gland +MONDO:0006740 empty sella syndrome MONDO:0002254 NCIT:C84686 NCIT:C28193 syndromic disease +MONDO:0006742 endemic goiter MONDO:0005397 NCIT:C35023 NCIT:C26785 goiter MONDO:0006749 mixed epithelioid and spindle cell melanoma MONDO:0005105 NCIT:C66756 NCIT:C3224 melanoma +MONDO:0006755 euthyroid sick syndrome MONDO:0002254 NCIT:C113170 NCIT:C28193 syndromic disease +MONDO:0006767 gastric antral vascular ectasia MONDO:0021658 NCIT:C84724 NCIT:C45481 vascular ectasia MONDO:0006787 hidrocystoma MONDO:0021489 NCIT:C3760 NCIT:C4879 benign neoplasm of sweat gland +MONDO:0006794 hypersensitivity vasculitis MONDO:0018882 NCIT:C82863 NCIT:C26912 vasculitis +MONDO:0006795 hypersplenism MONDO:0002332 NCIT:C34714 NCIT:C35823 splenic disorder +MONDO:0006797 hypertensive retinopathy MONDO:0005283 NCIT:C3514 NCIT:C62601 retinal disorder MONDO:0006801 ileal neoplasm MONDO:0004251 NCIT:C3130 NCIT:C4432 small intestine neoplasm +MONDO:0006802 inappropriate ADH syndrome MONDO:0045072 NCIT:C3988 NCIT:C4065 ectopic hormone secretion syndrome associated with neoplasia MONDO:0006804 inflammatory breast carcinoma MONDO:0004988 NCIT:C4001 NCIT:C5214 breast adenocarcinoma MONDO:0006804 inflammatory breast carcinoma MONDO:0006256 NCIT:C4001 NCIT:C9245 invasive breast carcinoma +MONDO:0006806 intermediate uveitis MONDO:0020283 NCIT:C35110 NCIT:C26909 uveitis MONDO:0006817 juxtacortical osteosarcoma MONDO:0002628 NCIT:C8969 NCIT:C7134 peripheral osteosarcoma +MONDO:0006827 lateral medullary syndrome MONDO:0002254 NCIT:C84807 NCIT:C28193 syndromic disease MONDO:0006834 lip cancer MONDO:0021249 NCIT:C7485 NCIT:C3191 lip neoplasm +MONDO:0006835 lipoid nephrosis MONDO:0002462 NCIT:C34844 NCIT:C26784 glomerulonephritis +MONDO:0006840 lymphangiectasis MONDO:0021658 NCIT:C97087 NCIT:C45481 vascular ectasia MONDO:0006841 lymphangioendothelioma MONDO:0002013 NCIT:C3203 NCIT:C8965 lymphangioma MONDO:0006842 lymphangiomyoma MONDO:0006359 NCIT:C3204 NCIT:C38150 neoplasm with perivascular epithelioid cell differentiation MONDO:0006850 maxillary sinus neoplasm MONDO:0005289 NCIT:C3219 NCIT:C7488 paranasal sinus neoplasm @@ -2852,102 +3685,589 @@ MONDO:0006853 mesenchymal chondrosarcoma MONDO:0008977 NCIT:C3737 NCIT:C2946 cho MONDO:0006859 mucinous cystadenoma MONDO:0002369 NCIT:C2973 NCIT:C2972 cystadenoma MONDO:0006859 mucinous cystadenoma MONDO:0024338 NCIT:C2973 NCIT:C7070 mucinous neoplasm MONDO:0006863 myxosarcoma MONDO:0018078 NCIT:C3255 NCIT:C9306 soft tissue sarcoma +MONDO:0006865 necrotizing ulcerative gingivitis MONDO:0002508 NCIT:C34637 NCIT:C34636 gingivitis +MONDO:0006869 nodular goiter MONDO:0005397 NCIT:C131437 NCIT:C26785 goiter +MONDO:0006873 nutritional deficiency disease MONDO:0005137 NCIT:C3669 NCIT:C26836 nutritional disorder +MONDO:0006881 orbital cellulitis MONDO:0005230 NCIT:C99000 NCIT:C26715 cellulitis MONDO:0006883 malignant superior sulcus neoplasm MONDO:0008903 NCIT:C7527 NCIT:C7377 lung cancer MONDO:0006883 malignant superior sulcus neoplasm MONDO:0024813 NCIT:C7527 NCIT:C27710 pulmonary sulcus neoplasm -MONDO:0006890 parathyroid gland adenoma MONDO:0004972 NCIT:C156757 NCIT:C2855 adenoma +MONDO:0006888 paraneoplastic polyneuropathy MONDO:0001824 NCIT:C3981 NCIT:C26951 polyneuropathy MONDO:0006890 parathyroid gland adenoma MONDO:0021463 NCIT:C156757 NCIT:C3630 benign neoplasm of parathyroid gland MONDO:0006895 penile neoplasm MONDO:0002036 NCIT:C3317 NCIT:C26846 penile disorder MONDO:0006895 penile neoplasm MONDO:0024582 NCIT:C3317 NCIT:C3054 male reproductive system neoplasm MONDO:0006907 pilar sheath acanthoma MONDO:0002093 NCIT:C4468 NCIT:C7419 acanthoma +MONDO:0006920 prediabetes syndrome MONDO:0002908 NCIT:C122685 NCIT:C53655 glucose metabolism disease +MONDO:0006926 haemophilus infectious disease MONDO:0005113 NCIT:C34654 NCIT:C2890 bacterial infectious disease +MONDO:0006930 pseudobulbar palsy MONDO:0003569 NCIT:C129934 NCIT:C26733 cranial nerve neuropathy +MONDO:0006932 pulmonary edema MONDO:0001208 NCIT:C26868 NCIT:C27043 acute respiratory failure +MONDO:0006939 pyelonephritis MONDO:0005247 NCIT:C34965 NCIT:C50791 bacterial urinary tract infection +MONDO:0006948 retinal artery occlusion MONDO:0002089 NCIT:C34978 NCIT:C34980 retinal vascular occlusion +MONDO:0006951 retinal vein occlusion MONDO:0002089 NCIT:C34981 NCIT:C34980 retinal vascular occlusion +MONDO:0006952 retinopathy of prematurity MONDO:0005283 NCIT:C34982 NCIT:C62601 retinal disorder +MONDO:0006956 Rickettsiosis MONDO:0005113 NCIT:C34991 NCIT:C2890 bacterial infectious disease MONDO:0006962 sebaceous adenocarcinoma MONDO:0004970 NCIT:C40310 NCIT:C2852 adenocarcinoma MONDO:0006962 sebaceous adenocarcinoma MONDO:0006973 NCIT:C40310 NCIT:C3775 skin appendage carcinoma MONDO:0006962 sebaceous adenocarcinoma MONDO:0037735 NCIT:C40310 NCIT:C8409 sebaceous gland cancer MONDO:0006963 sebaceous gland neoplasm MONDO:0002297 NCIT:C3363 NCIT:C4463 epidermal appendage tumor +MONDO:0006964 secondary hyperparathyroidism MONDO:0001741 NCIT:C113335 NCIT:C48259 hyperparathyroidism MONDO:0006973 skin appendage carcinoma MONDO:0002656 NCIT:C3775 NCIT:C4914 skin carcinoma MONDO:0006974 small cell sarcoma MONDO:0005089 NCIT:C3746 NCIT:C9118 sarcoma MONDO:0006975 smooth muscle tumor MONDO:0021545 NCIT:C3751 NCIT:C4063 myomatous neoplasm MONDO:0006980 struma ovarii MONDO:0002372 NCIT:C7468 NCIT:C8113 ovarian monodermal and highly specialized teratoma +MONDO:0006983 subclavian steal syndrome MONDO:0002254 NCIT:C35044 NCIT:C28193 syndromic disease +MONDO:0006994 tarsal tunnel syndrome MONDO:0002254 NCIT:C85183 NCIT:C28193 syndromic disease +MONDO:0006995 tethered spinal cord syndrome MONDO:0002254 NCIT:C99080 NCIT:C28193 syndromic disease +MONDO:0006996 thyroid crisis MONDO:0004425 NCIT:C112836 NCIT:C3123 hyperthyroidism MONDO:0006998 tonsil cancer MONDO:0021250 NCIT:C7404 NCIT:C3417 tonsil neoplasm +MONDO:0007002 trochlear nerve disorder MONDO:0003569 NCIT:C78395 NCIT:C26733 cranial nerve neuropathy +MONDO:0007004 type III hypersensitivity disease MONDO:0000605 NCIT:C114346 NCIT:C3114 hypersensitivity reaction disease +MONDO:0007015 viral meningitis MONDO:0004796 NCIT:C118298 NCIT:C79598 infectious meningitis +MONDO:0007016 vitamin A deficiency MONDO:0024298 NCIT:C85220 NCIT:C35772 vitamin deficiency disorder +MONDO:0007023 Yersinia infectious disease MONDO:0005113 NCIT:C128337 NCIT:C2890 bacterial infectious disease +MONDO:0007027 metabolic dysfunction-associated steatohepatitis MONDO:0002251 NCIT:C84445 NCIT:C3095 hepatitis +MONDO:0007027 metabolic dysfunction-associated steatohepatitis MONDO:0013209 NCIT:C84445 NCIT:C84444 metabolic dysfunction-associated steatotic liver disease +MONDO:0007029 branchio-oto-renal syndrome MONDO:0002254 NCIT:C98983 NCIT:C28193 syndromic disease +MONDO:0007032 prune belly syndrome MONDO:0002254 NCIT:C85033 NCIT:C28193 syndromic disease MONDO:0007033 abducens nerve palsy MONDO:0002782 NCIT:C27592 NCIT:C26941 cranial nerve palsy MONDO:0007033 abducens nerve palsy MONDO:0020594 NCIT:C27592 NCIT:C27593 abducens nerve disorder +MONDO:0007035 acanthosis nigricans MONDO:0002406 NCIT:C26687 NCIT:C2983 dermatitis +MONDO:0007036 Achard syndrome MONDO:0002254 NCIT:C35809 NCIT:C28193 syndromic disease +MONDO:0007039 neurofibromatosis type 2 MONDO:0021061 NCIT:C3274 NCIT:C6727 neurofibromatosis +MONDO:0007041 Apert syndrome MONDO:0019796 NCIT:C99099 NCIT:C34348 acrocephalosyndactyly +MONDO:0007042 Saethre-Chotzen syndrome MONDO:0019796 NCIT:C75034 NCIT:C34348 acrocephalosyndactyly MONDO:0007108 anal canal carcinoma MONDO:0003199 NCIT:C7489 NCIT:C9291 anal carcinoma +MONDO:0007110 Diamond-Blackfan anemia 1 MONDO:0015253 NCIT:C176911 NCIT:C61236 Diamond-Blackfan anemia +MONDO:0007113 Angelman syndrome MONDO:0002254 NCIT:C75462 NCIT:C28193 syndromic disease +MONDO:0007127 diffuse idiopathic skeletal hyperostosis MONDO:0002185 NCIT:C84671 NCIT:C34712 hyperostosis +MONDO:0007142 Townes-Brocks syndrome MONDO:0002254 NCIT:C99085 NCIT:C28193 syndromic disease +MONDO:0007147 obstructive sleep apnea syndrome MONDO:0002254 NCIT:C27168 NCIT:C28193 syndromic disease +MONDO:0007154 arteriovenous malformations of the brain MONDO:0001256 NCIT:C2936 NCIT:C2882 arteriovenous hemangioma/malformation +MONDO:0007160 Stickler syndrome type 1 MONDO:0019354 NCIT:C168733 NCIT:C74984 Stickler syndrome +MONDO:0007179 autoimmune disease MONDO:0005046 NCIT:C2889 NCIT:C3507 immune system disorder +MONDO:0007187 nevoid basal cell carcinoma syndrome MONDO:0042983 NCIT:C2892 NCIT:C84348 neurocutaneous syndrome +MONDO:0007191 Behcet disease MONDO:0002254 NCIT:C34416 NCIT:C28193 syndromic disease +MONDO:0007240 progressive familial heart block, type 1A MONDO:0007263 NCIT:C126651 NCIT:C2881 cardiac rhythm disease MONDO:0007243 Burkitt lymphoma MONDO:0017595 NCIT:C2912 NCIT:C178541 aggressive B-cell non-Hodgkin lymphoma +MONDO:0007244 Caffey disease MONDO:0002185 NCIT:C118423 NCIT:C34712 hyperostosis MONDO:0007254 breast cancer MONDO:0021100 NCIT:C9335 NCIT:C2910 breast neoplasm MONDO:0007256 hepatocellular carcinoma MONDO:0004970 NCIT:C3099 NCIT:C2852 adenocarcinoma MONDO:0007256 hepatocellular carcinoma MONDO:0018531 NCIT:C3099 NCIT:C7927 carcinoma of liver and intrahepatic biliary tract +MONDO:0007266 hypertrophic cardiomyopathy 2 MONDO:0024573 NCIT:C142892 NCIT:C84773 familial hypertrophic cardiomyopathy +MONDO:0007268 hypertrophic cardiomyopathy 4 MONDO:0024573 NCIT:C133725 NCIT:C84773 familial hypertrophic cardiomyopathy +MONDO:0007276 cat-eye syndrome MONDO:0002254 NCIT:C75477 NCIT:C28193 syndromic disease +MONDO:0007293 leukocyte adhesion deficiency 1 MONDO:0017570 NCIT:C4689 NCIT:C27874 leukocyte adhesion deficiency +MONDO:0007294 central core myopathy MONDO:0018943 NCIT:C83010 NCIT:C83009 myofibrillar myopathy +MONDO:0007315 cherubism MONDO:0015356 NCIT:C84630 NCIT:C3266 hereditary neoplastic syndrome +MONDO:0007318 Alagille syndrome MONDO:0002254 NCIT:C35139 NCIT:C28193 syndromic disease +MONDO:0007329 cirrhosis, familial MONDO:0005155 NCIT:C84411 NCIT:C2951 cirrhosis of liver +MONDO:0007340 cleidocranial dysplasia 1 MONDO:0002254 NCIT:C75020 NCIT:C28193 syndromic disease +MONDO:0007352 renal coloboma syndrome MONDO:0002254 NCIT:C123230 NCIT:C28193 syndromic disease +MONDO:0007363 congenital contractural arachnodactyly MONDO:0008779 NCIT:C129865 NCIT:C84572 arthrogryposis +MONDO:0007404 Cri-du-chat syndrome MONDO:0002254 NCIT:C34518 NCIT:C28193 syndromic disease +MONDO:0007446 dermatosis papulosa nigra MONDO:0002406 NCIT:C2984 NCIT:C2983 dermatitis +MONDO:0007450 neurohypophyseal diabetes insipidus MONDO:0004782 NCIT:C84933 NCIT:C43263 diabetes insipidus +MONDO:0007452 maturity-onset diabetes of the young type 1 MONDO:0018911 NCIT:C129744 NCIT:C114769 maturity-onset diabetes of the young +MONDO:0007453 maturity-onset diabetes of the young type 2 MONDO:0018911 NCIT:C129741 NCIT:C114769 maturity-onset diabetes of the young +MONDO:0007473 Duane retraction syndrome MONDO:0002254 NCIT:C84678 NCIT:C28193 syndromic disease +MONDO:0007485 dyskeratosis congenita, autosomal dominant 1 MONDO:0015780 NCIT:C176921 NCIT:C111802 dyskeratosis congenita +MONDO:0007486 hereditary benign intraepithelial dyskeratosis MONDO:0002254 NCIT:C3940 NCIT:C28193 syndromic disease +MONDO:0007523 Ehlers-Danlos syndrome, hypermobility type MONDO:0020066 NCIT:C125698 NCIT:C34568 Ehlers-Danlos syndrome +MONDO:0007525 Ehlers-Danlos syndrome, arthrochalasis type MONDO:0020066 NCIT:C125701 NCIT:C34568 Ehlers-Danlos syndrome +MONDO:0007534 Beckwith-Wiedemann syndrome MONDO:0015356 NCIT:C34415 NCIT:C3266 hereditary neoplastic syndrome +MONDO:0007536 congenital lobar emphysema MONDO:0004849 NCIT:C98895 NCIT:C3348 pulmonary emphysema MONDO:0007540 multiple endocrine neoplasia type 1 MONDO:0017169 NCIT:C3225 NCIT:C6432 multiple endocrine neoplasia +MONDO:0007542 Camurati-Engelmann disease MONDO:0002254 NCIT:C84610 NCIT:C28193 syndromic disease +MONDO:0007566 multiple self-healing squamous epithelioma MONDO:0015356 NCIT:C4461 NCIT:C3266 hereditary neoplastic syndrome +MONDO:0007571 primary erythermalgia MONDO:0016028 NCIT:C125383 NCIT:C34593 erythromelalgia MONDO:0007576 esophageal cancer MONDO:0002516 NCIT:C7478 NCIT:C4890 digestive system cancer MONDO:0007576 esophageal cancer MONDO:0021355 NCIT:C7478 NCIT:C3028 neoplasm of esophagus +MONDO:0007603 Felty syndrome MONDO:0002254 NCIT:C84712 NCIT:C28193 syndromic disease +MONDO:0007606 fibrodysplasia ossificans progressiva MONDO:0003847 NCIT:C3040 NCIT:C3101 hereditary disease MONDO:0007608 desmoid tumor MONDO:0005031 NCIT:C9182 NCIT:C3042 fibromatosis +MONDO:0007631 chromosome 16p12.1 deletion syndrome, 520kb MONDO:0002254 NCIT:C129875 NCIT:C28193 syndromic disease +MONDO:0007635 Frasier syndrome MONDO:0002254 NCIT:C122805 NCIT:C28193 syndromic disease MONDO:0007648 hereditary diffuse gastric adenocarcinoma MONDO:0005017 NCIT:C43295 NCIT:C9159 diffuse gastric adenocarcinoma MONDO:0007650 MALT lymphoma MONDO:0017604 NCIT:C3898 NCIT:C4341 marginal zone lymphoma +MONDO:0007652 gastric mucosal hypertrophy MONDO:0004966 NCIT:C67277 NCIT:C26780 gastritis +MONDO:0007656 Gerstmann-Straussler-Scheinker syndrome MONDO:0005429 NCIT:C84727 NCIT:C128346 prion disease +MONDO:0007661 Tourette syndrome MONDO:0002254 NCIT:C35078 NCIT:C28193 syndromic disease +MONDO:0007661 Tourette syndrome MONDO:0005395 NCIT:C35078 NCIT:C116757 movement disorder +MONDO:0007669 renal cysts and diabetes syndrome MONDO:0002254 NCIT:C123018 NCIT:C28193 syndromic disease +MONDO:0007686 gray platelet syndrome MONDO:0002254 NCIT:C84741 NCIT:C28193 syndromic disease +MONDO:0007710 facial hemiatrophy MONDO:0002254 NCIT:C116916 NCIT:C28193 syndromic disease +MONDO:0007734 holoprosencephaly 4 MONDO:0016296 NCIT:C75475 NCIT:C74988 holoprosencephaly +MONDO:0007741 congenital hydronephrosis MONDO:0005510 NCIT:C102979 NCIT:C26796 hydronephrosis +MONDO:0007745 Gilbert syndrome MONDO:0002254 NCIT:C84729 NCIT:C28193 syndromic disease +MONDO:0007745 Gilbert syndrome MONDO:0002408 NCIT:C84729 NCIT:C84761 hereditary hyperbilirubinemia +MONDO:0007790 Charcot-Marie-Tooth disease type 3 MONDO:0015626 NCIT:C133087 NCIT:C75467 Charcot-Marie-Tooth disease +MONDO:0007793 hypochondroplasia MONDO:0005516 NCIT:C118697 NCIT:C84978 osteochondrodysplasia +MONDO:0007797 hypoparathyroidism-deafness-renal disease syndrome MONDO:0002254 NCIT:C130983 NCIT:C28193 syndromic disease +MONDO:0007800 chromosome 18p deletion syndrome MONDO:0002254 NCIT:C84521 NCIT:C28193 syndromic disease +MONDO:0007804 Pallister-Hall syndrome MONDO:0002254 NCIT:C84987 NCIT:C28193 syndromic disease +MONDO:0007818 hyper-IgE recurrent infection syndrome 1, autosomal dominant MONDO:0018037 NCIT:C126342 NCIT:C3144 hyper-IgE syndrome +MONDO:0007827 inclusion body myositis MONDO:0021167 NCIT:C84786 NCIT:C27578 myositis disease +MONDO:0007838 Jacobsen syndrome MONDO:0002254 NCIT:C75457 NCIT:C28193 syndromic disease +MONDO:0007863 Kleine-Levin syndrome MONDO:0002254 NCIT:C84800 NCIT:C28193 syndromic disease +MONDO:0007864 angioosteohypertrophic syndrome MONDO:0002254 NCIT:C84801 NCIT:C28193 syndromic disease MONDO:0007886 uterine corpus leiomyoma MONDO:0001572 NCIT:C3434 NCIT:C3157 leiomyoma MONDO:0007886 uterine corpus leiomyoma MONDO:0021525 NCIT:C3434 NCIT:C3608 benign neoplasm of corpus uteri MONDO:0007888 hereditary leiomyomatosis and renal cell cancer MONDO:0015356 NCIT:C51302 NCIT:C3266 hereditary neoplastic syndrome +MONDO:0007899 lichen sclerosus et atrophicus MONDO:0002406 NCIT:C26817 NCIT:C2983 dermatitis MONDO:0007908 multiple symmetric lipomatosis MONDO:0006574 NCIT:C4392 NCIT:C3193 lipomatosis +MONDO:0007915 systemic lupus erythematosus MONDO:0004670 NCIT:C3201 NCIT:C27153 lupus erythematosus +MONDO:0007921 yellow nail syndrome MONDO:0002254 NCIT:C85238 NCIT:C28193 syndromic disease +MONDO:0007922 lymphedema-distichiasis syndrome MONDO:0002254 NCIT:C128191 NCIT:C28193 syndromic disease +MONDO:0007924 Bannayan-Riley-Ruvalcaba syndrome MONDO:0017623 NCIT:C3939 NCIT:C179915 PTEN hamartoma tumor syndrome +MONDO:0007925 myelodysplastic syndrome associated with isolated del(5q) MONDO:0018881 NCIT:C6867 NCIT:C3247 myelodysplastic syndrome +MONDO:0007935 cystoid macular edema MONDO:0003005 NCIT:C34794 NCIT:C35468 macular retinal edema +MONDO:0007947 Marfan syndrome MONDO:0002254 NCIT:C34807 NCIT:C28193 syndromic disease MONDO:0007950 mastocytosis MONDO:0002724 NCIT:C84269 NCIT:C9295 mast cell neoplasm +MONDO:0007969 Melkersson-Rosenthal syndrome MONDO:0002254 NCIT:C84886 NCIT:C28193 syndromic disease +MONDO:0007999 holoprosencephaly 2 MONDO:0016296 NCIT:C74995 NCIT:C74988 holoprosencephaly +MONDO:0008006 Mobius syndrome MONDO:0002254 NCIT:C84893 NCIT:C28193 syndromic disease +MONDO:0008030 facioscapulohumeral muscular dystrophy 1 MONDO:0001347 NCIT:C172704 NCIT:C84704 facioscapulohumeral muscular dystrophy +MONDO:0008031 facioscapulohumeral muscular dystrophy 2 MONDO:0001347 NCIT:C172705 NCIT:C84704 facioscapulohumeral muscular dystrophy +MONDO:0008048 autosomal dominant centronuclear myopathy MONDO:0002921 NCIT:C126689 NCIT:C84648 congenital structural myopathy +MONDO:0008054 juvenile dermatomyositis MONDO:0016367 NCIT:C27576 NCIT:C26744 dermatomyositis +MONDO:0008056 myotonic dystrophy type 1 MONDO:0016107 NCIT:C84679 NCIT:C84914 myotonic dystrophy +MONDO:0008061 nail-patella syndrome MONDO:0002254 NCIT:C75120 NCIT:C28193 syndromic disease MONDO:0008075 schwannomatosis MONDO:0002546 NCIT:C6557 NCIT:C3269 schwannoma MONDO:0008082 multiple endocrine neoplasia type 2B MONDO:0019003 NCIT:C3227 NCIT:C123329 multiple endocrine neoplasia type 2 +MONDO:0008094 familial multiple nevi flammei MONDO:0021658 NCIT:C3840 NCIT:C45481 vascular ectasia +MONDO:0008095 nevus anemicus MONDO:0021658 NCIT:C3943 NCIT:C45481 vascular ectasia +MONDO:0008097 linear nevus sebaceous syndrome MONDO:0006499 NCIT:C4678 NCIT:C3075 hamartoma +MONDO:0008104 Noonan syndrome 1 MONDO:0018997 NCIT:C75459 NCIT:C34854 Noonan syndrome +MONDO:0008109 ocular cicatricial pemphigoid MONDO:0018746 NCIT:C84939 NCIT:C34907 mucous membrane pemphigoid +MONDO:0008114 obsessive-compulsive disorder MONDO:0005618 NCIT:C88411 NCIT:C2878 anxiety disorder MONDO:0008167 dermoid cyst of ovary MONDO:0002378 NCIT:C3856 NCIT:C9011 dermoid cyst MONDO:0008167 dermoid cyst of ovary MONDO:0003281 NCIT:C3856 NCIT:C7283 ovarian cystic teratoma MONDO:0008168 ovarian fibroma MONDO:0005167 NCIT:C3498 NCIT:C3041 fibroma MONDO:0008170 ovarian cancer MONDO:0001416 NCIT:C7431 NCIT:C4913 female reproductive organ cancer MONDO:0008170 ovarian cancer MONDO:0021068 NCIT:C7431 NCIT:C4984 ovarian neoplasm +MONDO:0008171 nephrolithiasis MONDO:0024647 NCIT:C114667 NCIT:C114688 urolithiasis MONDO:0008177 extramammary Paget disease MONDO:0021165 NCIT:C3302 NCIT:C7073 Paget disease +MONDO:0008218 Hailey-Hailey disease MONDO:0006594 NCIT:C82865 NCIT:C34909 pemphigus +MONDO:0008219 pemphigus vulgaris MONDO:0006594 NCIT:C34910 NCIT:C34909 pemphigus +MONDO:0008228 pernicious anemia MONDO:0001700 NCIT:C2871 NCIT:C34382 megaloblastic anemia MONDO:0008234 multiple endocrine neoplasia type 2A MONDO:0019003 NCIT:C3226 NCIT:C123329 multiple endocrine neoplasia type 2 +MONDO:0008262 Poland syndrome MONDO:0002254 NCIT:C85017 NCIT:C28193 syndromic disease MONDO:0008274 polyostotic fibrous dysplasia MONDO:0000845 NCIT:C34610 NCIT:C34609 fibrous dysplasia +MONDO:0008277 stomach polyp MONDO:0004298 NCIT:C3954 NCIT:C26886 stomach disorder +MONDO:0008287 Greig cephalopolysyndactyly syndrome MONDO:0002254 NCIT:C35255 NCIT:C28193 syndromic disease +MONDO:0008294 acute intermittent porphyria MONDO:0019142 NCIT:C84536 NCIT:C97096 inherited porphyria +MONDO:0008297 variegate porphyria MONDO:0019142 NCIT:C85219 NCIT:C97096 inherited porphyria +MONDO:0008300 Prader-Willi syndrome MONDO:0002254 NCIT:C75463 NCIT:C28193 syndromic disease +MONDO:0008310 Hutchinson-Gilford progeria syndrome MONDO:0002254 NCIT:C34951 NCIT:C28193 syndromic disease MONDO:0008315 prostate cancer MONDO:0005836 NCIT:C7378 NCIT:C8561 male reproductive organ cancer MONDO:0008315 prostate cancer MONDO:0021259 NCIT:C7378 NCIT:C3343 prostate neoplasm +MONDO:0008323 Liddle syndrome MONDO:0002254 NCIT:C84827 NCIT:C28193 syndromic disease +MONDO:0008327 exfoliation syndrome MONDO:0002254 NCIT:C129025 NCIT:C28193 syndromic disease +MONDO:0008340 ptosis, hereditary congenital, 1 MONDO:0000728 NCIT:C27049 NCIT:C27298 ptosis +MONDO:0008383 rheumatoid arthritis MONDO:0005554 NCIT:C2884 NCIT:C27204 rheumatic disorder +MONDO:0008383 rheumatoid arthritis MONDO:0005578 NCIT:C2884 NCIT:C2883 arthritic joint disease +MONDO:0008386 Axenfeld-Rieger syndrome type 1 MONDO:0019187 NCIT:C75015 NCIT:C131001 Axenfeld-Rieger syndrome +MONDO:0008393 Rubinstein-Taybi syndrome due to CREBBP mutations MONDO:0019188 NCIT:C153290 NCIT:C75466 Rubinstein-Taybi syndrome +MONDO:0008394 Silver-Russell syndrome MONDO:0002254 NCIT:C85068 NCIT:C28193 syndromic disease MONDO:0008401 pleomorphic adenoma MONDO:0021043 NCIT:C8602 NCIT:C6930 mixed neoplasm +MONDO:0008428 septooptic dysplasia MONDO:0002254 NCIT:C85063 NCIT:C28193 syndromic disease MONDO:0008433 small cell lung carcinoma MONDO:0000402 NCIT:C4917 NCIT:C3915 small cell carcinoma +MONDO:0008437 hereditary spastic paraplegia 3A MONDO:0019064 NCIT:C142893 NCIT:C140267 hereditary spastic paraplegia +MONDO:0008438 hereditary spastic paraplegia 4 MONDO:0019064 NCIT:C129981 NCIT:C140267 hereditary spastic paraplegia +MONDO:0008449 spina bifida MONDO:0002320 NCIT:C101214 NCIT:C97172 congenital nervous system disorder +MONDO:0008450 spinal arachnoiditis MONDO:0015304 NCIT:C50749 NCIT:C37913 arachnoiditis +MONDO:0008451 neuronopathy, distal hereditary motor, autosomal dominant 1 MONDO:0015626 NCIT:C132826 NCIT:C75467 Charcot-Marie-Tooth disease +MONDO:0008464 split hand-foot malformation 1 MONDO:0016576 NCIT:C75045 NCIT:C75000 split hand-foot malformation +MONDO:0008487 polycystic ovary syndrome MONDO:0002254 NCIT:C26862 NCIT:C28193 syndromic disease +MONDO:0008491 stiff-person syndrome MONDO:0002254 NCIT:C85170 NCIT:C28193 syndromic disease +MONDO:0008501 Sturge-Weber syndrome MONDO:0042983 NCIT:C3391 NCIT:C84348 neurocutaneous syndrome +MONDO:0008523 Blau syndrome MONDO:0007179 NCIT:C116794 NCIT:C2889 autoimmune disease +MONDO:0008538 temporal arteritis MONDO:0002341 NCIT:C35065 NCIT:C34653 granulomatous angiitis +MONDO:0008542 tetralogy of fallot MONDO:0005453 NCIT:C84505 NCIT:C95834 congenital heart disease +MONDO:0008546 thanatophoric dysplasia type 1 MONDO:0017042 NCIT:C98583 NCIT:C85187 thanatophoric dysplasia +MONDO:0008547 thanatophoric dysplasia type 2 MONDO:0017042 NCIT:C98584 NCIT:C85187 thanatophoric dysplasia +MONDO:0008558 autoimmune thrombocytopenic purpura MONDO:0043768 NCIT:C3446 NCIT:C26870 thrombocytopenic purpura +MONDO:0008564 DiGeorge syndrome MONDO:0001222 NCIT:C2989 NCIT:C27872 congenital T-cell immunodeficiency +MONDO:0008575 nicotine dependence MONDO:0005303 NCIT:C54203 NCIT:C3894 drug dependence MONDO:0008583 inherited torticollis MONDO:0005031 NCIT:C4811 NCIT:C3042 fibromatosis +MONDO:0008585 HELLP syndrome MONDO:0002254 NCIT:C84750 NCIT:C28193 syndromic disease +MONDO:0008612 tuberous sclerosis 1 MONDO:0001734 NCIT:C75122 NCIT:C3424 tuberous sclerosis +MONDO:0008627 ureter cancer MONDO:0006295 NCIT:C7543 NCIT:C9297 malignant urinary system neoplasm MONDO:0008627 ureter cancer MONDO:0021111 NCIT:C7543 NCIT:C3427 ureter neoplasm +MONDO:0008642 VACTERL/vater association MONDO:0002254 NCIT:C99105 NCIT:C28193 syndromic disease +MONDO:0008661 vitiligo MONDO:0002406 NCIT:C26915 NCIT:C2983 dermatitis +MONDO:0008667 von Hippel-Lindau disease MONDO:0042983 NCIT:C3105 NCIT:C84348 neurocutaneous syndrome +MONDO:0008670 Waardenburg syndrome type 1 MONDO:0018094 NCIT:C75008 NCIT:C85222 Waardenburg syndrome +MONDO:0008671 Waardenburg syndrome type 2A MONDO:0019517 NCIT:C75011 NCIT:C75009 Waardenburg syndrome type 2 +MONDO:0008675 Freeman-Sheldon syndrome MONDO:0002254 NCIT:C98931 NCIT:C28193 syndromic disease +MONDO:0008675 Freeman-Sheldon syndrome MONDO:0008779 NCIT:C98931 NCIT:C84572 arthrogryposis +MONDO:0008678 Williams syndrome MONDO:0002254 NCIT:C85232 NCIT:C28193 syndromic disease +MONDO:0008681 WAGR syndrome MONDO:0015356 NCIT:C3718 NCIT:C3266 hereditary neoplastic syndrome +MONDO:0008684 Wolf-Hirschhorn syndrome MONDO:0002254 NCIT:C35528 NCIT:C28193 syndromic disease +MONDO:0008703 acromesomelic dysplasia 2A MONDO:0019648 NCIT:C3816 NCIT:C84527 achondrogenesis +MONDO:0008708 acrocallosal syndrome MONDO:0002254 NCIT:C84531 NCIT:C28193 syndromic disease +MONDO:0008742 autosomal dominant severe congenital neutropenia MONDO:0018542 NCIT:C166155 NCIT:C166152 severe congenital neutropenia +MONDO:0008752 Alexander disease MONDO:0019046 NCIT:C84545 NCIT:C61253 leukodystrophy +MONDO:0008758 mitochondrial DNA depletion syndrome 4a MONDO:0002254 NCIT:C35257 NCIT:C28193 syndromic disease +MONDO:0008763 Alstrom syndrome MONDO:0002254 NCIT:C84549 NCIT:C28193 syndromic disease +MONDO:0008840 ataxia telangiectasia MONDO:0015131 NCIT:C2887 NCIT:C27871 combined immunodeficiency +MONDO:0008867 biliary atresia MONDO:0006322 NCIT:C34421 NCIT:C35774 non-neoplastic bile duct disorder +MONDO:0008889 thromboangiitis obliterans MONDO:0005294 NCIT:C35070 NCIT:C35136 peripheral vascular disease +MONDO:0008890 progressive bulbar palsy MONDO:0002782 NCIT:C85026 NCIT:C26941 cranial nerve palsy MONDO:0008903 lung cancer MONDO:0003274 NCIT:C7377 NCIT:C3576 thoracic cancer MONDO:0008903 lung cancer MONDO:0021117 NCIT:C7377 NCIT:C3200 lung neoplasm +MONDO:0008939 isolated cerebellar hypoplasia/agenesis MONDO:0002320 NCIT:C98890 NCIT:C97172 congenital nervous system disorder +MONDO:0008955 cerebrooculofacioskeletal syndrome 1 MONDO:0008926 NCIT:C173085 NCIT:C3817 COFS syndrome +MONDO:0008965 CHARGE syndrome MONDO:0002254 NCIT:C75100 NCIT:C28193 syndromic disease +MONDO:0008966 Aagenaes syndrome MONDO:0002254 NCIT:C35709 NCIT:C28193 syndromic disease MONDO:0008977 chondrosarcoma MONDO:0005089 NCIT:C2946 NCIT:C9118 sarcoma MONDO:0008978 chordoma MONDO:0002597 NCIT:C2947 NCIT:C7063 notochordal tumor +MONDO:0008988 citrullinemia type I MONDO:0015991 NCIT:C150601 NCIT:C84639 citrullinemia +MONDO:0009003 achromatopsia 2 MONDO:0018852 NCIT:C168757 NCIT:C84528 achromatopsia +MONDO:0009016 band keratopathy MONDO:0002261 NCIT:C118765 NCIT:C27012 keratopathy +MONDO:0009022 corpus callosum, agenesis of MONDO:0002320 NCIT:C98905 NCIT:C97172 congenital nervous system disorder +MONDO:0009031 craniodiaphyseal dysplasia MONDO:0002185 NCIT:C131429 NCIT:C34712 hyperostosis +MONDO:0009044 Crigler-Najjar syndrome MONDO:0002254 NCIT:C84656 NCIT:C28193 syndromic disease +MONDO:0009044 Crigler-Najjar syndrome MONDO:0002408 NCIT:C84656 NCIT:C84761 hereditary hyperbilirubinemia +MONDO:0009046 Fraser syndrome MONDO:0002254 NCIT:C118436 NCIT:C28193 syndromic disease +MONDO:0009106 diastematomyelia MONDO:0002320 NCIT:C98913 NCIT:C97172 congenital nervous system disorder +MONDO:0009113 hemolytic anemia due to diphosphoglycerate mutase deficiency MONDO:0019052 NCIT:C131638 NCIT:C34816 inborn errors of metabolism +MONDO:0009113 hemolytic anemia due to diphosphoglycerate mutase deficiency MONDO:0020585 NCIT:C131638 NCIT:C131630 anemia due to erythrocyte enzyme disorder +MONDO:0009130 Dyggve-Melchior-Clausen disease MONDO:0002254 NCIT:C124844 NCIT:C28193 syndromic disease +MONDO:0009133 cerebellar ataxia, intellectual disability, and dysequilibrium MONDO:0002254 NCIT:C114781 NCIT:C28193 syndromic disease +MONDO:0009136 dyskeratosis congenita, autosomal recessive 1 MONDO:0015780 NCIT:C176925 NCIT:C111802 dyskeratosis congenita +MONDO:0009151 cleft lip/palate-ectodermal dysplasia syndrome MONDO:0019287 NCIT:C122656 NCIT:C84683 ectodermal dysplasia syndrome +MONDO:0009175 eosinophilic fasciitis MONDO:0004830 NCIT:C112116 NCIT:C50559 fasciitis +MONDO:0009192 Wolcott-Rallison syndrome MONDO:0002254 NCIT:C131007 NCIT:C28193 syndromic disease +MONDO:0009210 congenital factor V deficiency MONDO:0020586 NCIT:C98938 NCIT:C131738 factor V deficiency +MONDO:0009212 congenital factor X deficiency MONDO:0002247 NCIT:C98940 NCIT:C131632 factor X deficiency +MONDO:0009213 Fanconi anemia complementation group C MONDO:0019391 NCIT:C125704 NCIT:C62505 Fanconi anemia +MONDO:0009214 Fanconi anemia complementation group D2 MONDO:0019391 NCIT:C125706 NCIT:C62505 Fanconi anemia +MONDO:0009215 Fanconi anemia complementation group A MONDO:0019391 NCIT:C125702 NCIT:C62505 Fanconi anemia +MONDO:0009237 focal epithelial hyperplasia MONDO:0005043 NCIT:C97083 NCIT:C3113 hyperplasia +MONDO:0009253 Fryns syndrome MONDO:0002254 NCIT:C98932 NCIT:C28193 syndromic disease +MONDO:0009255 galactokinase deficiency MONDO:0018116 NCIT:C114767 NCIT:C84723 galactosemia +MONDO:0009276 Bernard-Soulier syndrome MONDO:0002254 NCIT:C84595 NCIT:C28193 syndromic disease +MONDO:0009290 glycogen storage disease II MONDO:0002412 NCIT:C84734 NCIT:C61272 disorder of glycogen metabolism +MONDO:0009291 glycogen storage disease III MONDO:0002412 NCIT:C84736 NCIT:C61272 disorder of glycogen metabolism +MONDO:0009292 glycogen storage disease due to glycogen branching enzyme deficiency MONDO:0002412 NCIT:C84737 NCIT:C61272 disorder of glycogen metabolism +MONDO:0009293 glycogen storage disease V MONDO:0002412 NCIT:C84738 NCIT:C61272 disorder of glycogen metabolism +MONDO:0009294 glycogen storage disease VI MONDO:0002412 NCIT:C126875 NCIT:C61272 disorder of glycogen metabolism +MONDO:0009295 glycogen storage disease VII MONDO:0002412 NCIT:C118437 NCIT:C61272 disorder of glycogen metabolism +MONDO:0009299 46 XX gonadal dysgenesis MONDO:0001967 NCIT:C120197 NCIT:C61420 gonadal dysgenesis +MONDO:0009303 anti-glomerular basement membrane disease MONDO:0007179 NCIT:C84566 NCIT:C2889 autoimmune disease +MONDO:0009315 congenital factor XII deficiency MONDO:0002242 NCIT:C131740 NCIT:C27215 coagulation protein disease MONDO:0009330 hemangiopericytoma, malignant MONDO:0005094 NCIT:C4301 NCIT:C3087 hemangiopericytoma MONDO:0009348 classic Hodgkin lymphoma MONDO:0004952 NCIT:C7164 NCIT:C9357 Hodgkins lymphoma +MONDO:0009349 holoprosencephaly 1 MONDO:0016296 NCIT:C75476 NCIT:C74988 holoprosencephaly +MONDO:0009369 non-immune hydrops fetalis MONDO:0015193 NCIT:C111905 NCIT:C84767 hydrops fetalis +MONDO:0009380 Dubin-Johnson syndrome MONDO:0002254 NCIT:C34741 NCIT:C28193 syndromic disease +MONDO:0009387 familial lipoprotein lipase deficiency MONDO:0037748 NCIT:C84771 NCIT:C34709 hyperlipoproteinemia +MONDO:0009393 ornithine translocase deficiency MONDO:0002254 NCIT:C129029 NCIT:C28193 syndromic disease +MONDO:0009394 juvenile Paget disease MONDO:0005382 NCIT:C131861 NCIT:C3292 bone Paget disease +MONDO:0009395 hyperostosis corticalis generalisata MONDO:0002185 NCIT:C131812 NCIT:C34712 hyperostosis +MONDO:0009411 autoimmune polyendocrine syndrome type 1 MONDO:0017278 NCIT:C129727 NCIT:C129726 autoimmune polyendocrinopathy +MONDO:0009412 scurvy MONDO:0024298 NCIT:C35010 NCIT:C35772 vitamin deficiency disorder +MONDO:0009426 hypoparathyroidism-retardation-dysmorphism syndrome MONDO:0002254 NCIT:C133727 NCIT:C28193 syndromic disease +MONDO:0009452 Vici syndrome MONDO:0002254 NCIT:C138174 NCIT:C28193 syndromic disease +MONDO:0009478 combined immunodeficiency due to DOCK8 deficiency MONDO:0018037 NCIT:C126343 NCIT:C3144 hyper-IgE syndrome +MONDO:0009499 Krabbe disease MONDO:0019046 NCIT:C61254 NCIT:C61253 leukodystrophy +MONDO:0009499 Krabbe disease MONDO:0019255 NCIT:C61254 NCIT:C117254 sphingolipidosis +MONDO:0009509 Landau-Kleffner syndrome MONDO:0002254 NCIT:C84806 NCIT:C28193 syndromic disease +MONDO:0009514 Laurence-Moon syndrome MONDO:0002254 NCIT:C34760 NCIT:C28193 syndromic disease +MONDO:0009517 Donohue syndrome MONDO:0002254 NCIT:C84676 NCIT:C28193 syndromic disease +MONDO:0009525 split hand-foot malformation 3 MONDO:0016576 NCIT:C75121 NCIT:C75000 split hand-foot malformation +MONDO:0009532 Miller-Dieker lissencephaly syndrome MONDO:0002254 NCIT:C124852 NCIT:C28193 syndromic disease +MONDO:0009537 lymphoid interstitial pneumonia MONDO:0002429 NCIT:C27558 NCIT:C35714 idiopathic interstitial pneumonia +MONDO:0009588 Langer mesomelic dysplasia MONDO:0023599 NCIT:C126876 NCIT:C121156 mesomelic dysplasia +MONDO:0009610 3-methylglutaconic aciduria type 1 MONDO:0017359 NCIT:C98683 NCIT:C98678 3-methylglutaconic aciduria +MONDO:0009612 methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency MONDO:0002012 NCIT:C148366 NCIT:C98986 methylmalonic acidemia +MONDO:0009623 Nijmegen breakage syndrome MONDO:0021190 NCIT:C4692 NCIT:C7757 DNA repair disease +MONDO:0009627 Galloway-Mowat syndrome MONDO:0002254 NCIT:C132195 NCIT:C28193 syndromic disease +MONDO:0009637 inborn mitochondrial myopathy MONDO:0002921 NCIT:C101328 NCIT:C84648 congenital structural myopathy +MONDO:0009655 mucopolysaccharidosis type 3A MONDO:0018937 NCIT:C84897 NCIT:C61262 mucopolysaccharidosis type 3 +MONDO:0009656 mucopolysaccharidosis type 3B MONDO:0018937 NCIT:C84898 NCIT:C61262 mucopolysaccharidosis type 3 +MONDO:0009657 mucopolysaccharidosis type 3C MONDO:0018937 NCIT:C84899 NCIT:C61262 mucopolysaccharidosis type 3 +MONDO:0009658 mucopolysaccharidosis type 3D MONDO:0018937 NCIT:C84900 NCIT:C61262 mucopolysaccharidosis type 3 +MONDO:0009659 mucopolysaccharidosis type 4A MONDO:0018938 NCIT:C84901 NCIT:C61263 mucopolysaccharidosis type 4 +MONDO:0009660 mucopolysaccharidosis type 4B MONDO:0018938 NCIT:C84902 NCIT:C61263 mucopolysaccharidosis type 4 +MONDO:0009661 mucopolysaccharidosis type 6 MONDO:0002254 NCIT:C61264 NCIT:C28193 syndromic disease +MONDO:0009661 mucopolysaccharidosis type 6 MONDO:0019249 NCIT:C61264 NCIT:C61259 mucopolysaccharidosis +MONDO:0009662 mucopolysaccharidosis type 7 MONDO:0019249 NCIT:C84903 NCIT:C61259 mucopolysaccharidosis +MONDO:0009664 mulibrey nanism MONDO:0002254 NCIT:C84906 NCIT:C28193 syndromic disease +MONDO:0009668 lethal multiple pterygium syndrome MONDO:0002254 NCIT:C101038 NCIT:C28193 syndromic disease +MONDO:0009689 congenital myasthenic syndrome 6 MONDO:0018940 NCIT:C132292 NCIT:C84647 congenital myasthenic syndrome MONDO:0009691 mycosis fungoides MONDO:0000607 NCIT:C3246 NCIT:C3467 primary cutaneous T-cell non-Hodgkin lymphoma +MONDO:0009692 primary myelofibrosis MONDO:0020076 NCIT:C2862 NCIT:C4345 myeloproliferative neoplasm MONDO:0009693 plasma cell myeloma MONDO:0004959 NCIT:C3242 NCIT:C4665 plasma cell neoplasm +MONDO:0009705 carnitine palmitoyl transferase 1A deficiency MONDO:0037858 NCIT:C98871 NCIT:C117115 inherited fatty acid metabolism disorder +MONDO:0009717 Schwartz-Jampel syndrome MONDO:0002254 NCIT:C35008 NCIT:C28193 syndromic disease +MONDO:0009718 myxedema MONDO:0005420 NCIT:C34834 NCIT:C26800 hypothyroidism +MONDO:0009728 nephronophthisis 1 MONDO:0019005 NCIT:C74998 NCIT:C123200 nephronophthisis +MONDO:0009733 nephrotic syndrome, type 4 MONDO:0002350 NCIT:C121198 NCIT:C35337 familial nephrotic syndrome +MONDO:0009735 Netherton syndrome MONDO:0002254 NCIT:C84922 NCIT:C28193 syndromic disease +MONDO:0009744 neuronal ceroid lipofuscinosis 1 MONDO:0016295 NCIT:C85861 NCIT:C61257 neuronal ceroid lipofuscinosis MONDO:0009755 neutrophil actin dysfunction MONDO:0005073 NCIT:C3694 NCIT:C7570 melanocytic nevus MONDO:0009761 cystic hygroma MONDO:0002013 NCIT:C3724 NCIT:C8965 lymphangioma MONDO:0009807 osteosarcoma MONDO:0005089 NCIT:C9145 NCIT:C9118 sarcoma MONDO:0009808 osteoid osteoma MONDO:0000631 NCIT:C3297 NCIT:C4880 bone benign neoplasm MONDO:0009808 osteoid osteoma MONDO:0045052 NCIT:C3297 NCIT:C6602 benign osteogenic neoplasm +MONDO:0009813 chronic recurrent multifocal osteomyelitis MONDO:0005246 NCIT:C119042 NCIT:C27577 osteomyelitis +MONDO:0009815 autosomal recessive osteopetrosis 1 MONDO:0019026 NCIT:C167215 NCIT:C129733 autosomal recessive osteopetrosis +MONDO:0009820 osteoporosis-pseudoglioma syndrome MONDO:0002254 NCIT:C130998 NCIT:C28193 syndromic disease +MONDO:0009823 primary hyperoxaluria type 1 MONDO:0002474 NCIT:C123212 NCIT:C123158 primary hyperoxaluria +MONDO:0009824 primary hyperoxaluria type 2 MONDO:0002474 NCIT:C123213 NCIT:C123158 primary hyperoxaluria MONDO:0009831 malignant pancreatic neoplasm MONDO:0002516 NCIT:C9005 NCIT:C4890 digestive system cancer MONDO:0009831 malignant pancreatic neoplasm MONDO:0021040 NCIT:C9005 NCIT:C3305 pancreatic neoplasm +MONDO:0009835 subacute sclerosing panencephalitis MONDO:0006009 NCIT:C85171 NCIT:C35302 viral encephalitis MONDO:0009837 choroid plexus papilloma MONDO:0002363 NCIT:C3698 NCIT:C7440 papilloma MONDO:0009837 choroid plexus papilloma MONDO:0044764 NCIT:C3698 NCIT:C8405 benign choroid plexus neoplasm +MONDO:0009838 Parana hard-skin syndrome MONDO:0002254 NCIT:C126559 NCIT:C28193 syndromic disease +MONDO:0009856 Peters plus syndrome MONDO:0002254 NCIT:C123436 NCIT:C28193 syndromic disease +MONDO:0009865 glycogen storage disease due to phosphoglycerate mutase deficiency MONDO:0002412 NCIT:C131647 NCIT:C61272 disorder of glycogen metabolism +MONDO:0009874 Rabson-Mendenhall syndrome MONDO:0002254 NCIT:C131000 NCIT:C28193 syndromic disease +MONDO:0009887 desquamative interstitial pneumonia MONDO:0002429 NCIT:C35288 NCIT:C35714 idiopathic interstitial pneumonia +MONDO:0009889 autosomal recessive polycystic kidney disease MONDO:0020642 NCIT:C84579 NCIT:C75464 polycystic kidney disease MONDO:0009891 acquired polycythemia vera MONDO:0005571 NCIT:C3336 NCIT:C26863 polycythemia MONDO:0009891 acquired polycythemia vera MONDO:0020703 NCIT:C3336 NCIT:C7064 erythroid neoplasm +MONDO:0009902 cutaneous porphyria MONDO:0019142 NCIT:C84697 NCIT:C97096 inherited porphyria +MONDO:0009904 Gitelman syndrome MONDO:0002254 NCIT:C84730 NCIT:C28193 syndromic disease +MONDO:0009921 holoprosencephaly-postaxial polydactyly syndrome MONDO:0002254 NCIT:C125418 NCIT:C28193 syndromic disease +MONDO:0009923 46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency MONDO:0002525 NCIT:C98699 NCIT:C97092 inherited lipid metabolism disorder +MONDO:0009926 autosomal recessive multiple pterygium syndrome MONDO:0002254 NCIT:C101039 NCIT:C28193 syndromic disease +MONDO:0009933 congenital pulmonary lymphangiectasia MONDO:0006840 NCIT:C99034 NCIT:C97087 lymphangiectasis +MONDO:0009953 leukocyte adhesion deficiency type II MONDO:0017570 NCIT:C4690 NCIT:C27874 leukocyte adhesion deficiency +MONDO:0009965 Perlman syndrome MONDO:0002254 NCIT:C103144 NCIT:C28193 syndromic disease +MONDO:0009990 Revesz syndrome MONDO:0015780 NCIT:C152064 NCIT:C111802 dyskeratosis congenita MONDO:0009993 embryonal rhabdomyosarcoma MONDO:0005212 NCIT:C8971 NCIT:C3359 rhabdomyosarcoma MONDO:0009994 alveolar rhabdomyosarcoma MONDO:0005212 NCIT:C3749 NCIT:C3359 rhabdomyosarcoma +MONDO:0010002 Rothmund-Thomson syndrome MONDO:0015356 NCIT:C3335 NCIT:C3266 hereditary neoplastic syndrome +MONDO:0010011 schizencephaly MONDO:0002320 NCIT:C99056 NCIT:C97172 congenital nervous system disorder +MONDO:0010012 autoimmune polyendocrinopathy type 2 MONDO:0017278 NCIT:C129728 NCIT:C129726 autoimmune polyendocrinopathy +MONDO:0010030 Sjogren syndrome MONDO:0002254 NCIT:C26883 NCIT:C28193 syndromic disease +MONDO:0010079 Canavan disease MONDO:0019046 NCIT:C84611 NCIT:C61253 leukodystrophy MONDO:0010108 testicular germ cell tumor MONDO:0021348 NCIT:C8591 NCIT:C3404 neoplasm of testis +MONDO:0010121 thrombocytopenia-absent radius syndrome MONDO:0002254 NCIT:C99038 NCIT:C28193 syndromic disease +MONDO:0010122 congenital thrombotic thrombocytopenic purpura MONDO:0018896 NCIT:C131657 NCIT:C78797 thrombotic thrombocytopenic purpura +MONDO:0010132 familial thyroid dyshormonogenesis MONDO:0018612 NCIT:C121751 NCIT:C26734 congenital hypothyroidism +MONDO:0010134 Pendred syndrome MONDO:0018612 NCIT:C121745 NCIT:C26734 congenital hypothyroidism +MONDO:0010140 isolated thyrotropin-releasing hormone deficiency MONDO:0016410 NCIT:C121741 NCIT:C113144 central congenital hypothyroidism MONDO:0010150 head and neck squamous cell carcinoma MONDO:0002038 NCIT:C34447 NCIT:C35850 head and neck carcinoma MONDO:0010150 head and neck squamous cell carcinoma MONDO:0005096 NCIT:C34447 NCIT:C2929 squamous cell carcinoma +MONDO:0010159 mismatch repair cancer syndrome 1 MONDO:0015356 NCIT:C130202 NCIT:C3266 hereditary neoplastic syndrome +MONDO:0010160 tyrosinemia type II MONDO:0004741 NCIT:C129032 NCIT:C98640 tyrosinemia +MONDO:0010161 tyrosinemia type I MONDO:0004741 NCIT:C98641 NCIT:C98640 tyrosinemia +MONDO:0010168 Usher syndrome type 1 MONDO:0019501 NCIT:C126327 NCIT:C85217 Usher syndrome +MONDO:0010186 vitamin D-dependent rickets, type 2A MONDO:0019642 NCIT:C131075 NCIT:C131077 vitamin D-dependent rickets, type 2 +MONDO:0010193 Weaver syndrome MONDO:0002254 NCIT:C125599 NCIT:C28193 syndromic disease +MONDO:0010198 Wernicke-Korsakoff syndrome MONDO:0002254 NCIT:C35764 NCIT:C28193 syndromic disease +MONDO:0010210 xeroderma pigmentosum group A MONDO:0019600 NCIT:C3965 NCIT:C3452 xeroderma pigmentosum +MONDO:0010211 xeroderma pigmentosum group C MONDO:0019600 NCIT:C114770 NCIT:C3452 xeroderma pigmentosum +MONDO:0010212 xeroderma pigmentosum group D MONDO:0019600 NCIT:C3967 NCIT:C3452 xeroderma pigmentosum +MONDO:0010213 xeroderma pigmentosum group E MONDO:0019600 NCIT:C114771 NCIT:C3452 xeroderma pigmentosum +MONDO:0010214 xeroderma pigmentosum variant type MONDO:0019600 NCIT:C141367 NCIT:C3452 xeroderma pigmentosum +MONDO:0010215 xeroderma pigmentosum group F MONDO:0019600 NCIT:C3968 NCIT:C3452 xeroderma pigmentosum +MONDO:0010216 xeroderma pigmentosum group G MONDO:0019600 NCIT:C3969 NCIT:C3452 xeroderma pigmentosum +MONDO:0010217 de Sanctis-Cacchione syndrome MONDO:0002254 NCIT:C84666 NCIT:C28193 syndromic disease +MONDO:0010264 X-linked adrenal hypoplasia congenita MONDO:0016241 NCIT:C123725 NCIT:C35261 alternating hemiplegia of childhood +MONDO:0010298 Lesch-Nyhan syndrome MONDO:0002254 NCIT:C61255 NCIT:C28193 syndromic disease +MONDO:0010311 Becker muscular dystrophy MONDO:0020121 NCIT:C84587 NCIT:C84910 muscular dystrophy +MONDO:0010351 Fanconi anemia complementation group B MONDO:0019391 NCIT:C125703 NCIT:C62505 Fanconi anemia +MONDO:0010370 Cornelia de Lange syndrome 2 MONDO:0016033 NCIT:C75485 NCIT:C75016 Cornelia de Lange syndrome +MONDO:0010382 fragile X-associated tremor/ataxia syndrome MONDO:0002254 NCIT:C126566 NCIT:C28193 syndromic disease +MONDO:0010383 fragile X syndrome MONDO:0002254 NCIT:C84717 NCIT:C28193 syndromic disease +MONDO:0010385 X-linked lymphoproliferative disease due to XIAP deficiency MONDO:0010627 NCIT:C126295 NCIT:C61246 X-linked lymphoproliferative syndrome MONDO:0010434 synovial sarcoma MONDO:0018078 NCIT:C3400 NCIT:C9306 soft tissue sarcoma +MONDO:0010475 X-linked central congenital hypothyroidism with late-onset testicular enlargement MONDO:0002254 NCIT:C130989 NCIT:C28193 syndromic disease +MONDO:0010518 Wiskott-Aldrich syndrome MONDO:0015131 NCIT:C3448 NCIT:C27871 combined immunodeficiency +MONDO:0010518 Wiskott-Aldrich syndrome MONDO:0015356 NCIT:C3448 NCIT:C3266 hereditary neoplastic syndrome +MONDO:0010526 Fabry disease MONDO:0019255 NCIT:C84701 NCIT:C117254 sphingolipidosis +MONDO:0010543 Barth syndrome MONDO:0017359 NCIT:C84585 NCIT:C98678 3-methylglutaconic aciduria +MONDO:0010568 Aicardi syndrome MONDO:0002254 NCIT:C35256 NCIT:C28193 syndromic disease +MONDO:0010580 immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome MONDO:0002254 NCIT:C131009 NCIT:C28193 syndromic disease +MONDO:0010586 X-linked Ehlers-Danlos syndrome MONDO:0020066 NCIT:C141423 NCIT:C34568 Ehlers-Danlos syndrome +MONDO:0010602 hemophilia A MONDO:0018660 NCIT:C27146 NCIT:C3093 hemophilia +MONDO:0010604 hemophilia B MONDO:0018660 NCIT:C26721 NCIT:C3093 hemophilia +MONDO:0010627 X-linked lymphoproliferative syndrome MONDO:0021094 NCIT:C61246 NCIT:C3131 immunodeficiency disease +MONDO:0010635 hypogonadotropic hypogonadism 1 with or without anosmia MONDO:0018800 NCIT:C75480 NCIT:C75479 Kallmann syndrome MONDO:0010643 acute leukemia MONDO:0005059 NCIT:C9300 NCIT:C3161 leukemia +MONDO:0010645 oculocerebrorenal syndrome MONDO:0002254 NCIT:C84940 NCIT:C28193 syndromic disease +MONDO:0010651 Menkes disease MONDO:0002254 NCIT:C75486 NCIT:C28193 syndromic disease +MONDO:0010674 mucopolysaccharidosis type 2 MONDO:0002254 NCIT:C61260 NCIT:C28193 syndromic disease +MONDO:0010674 mucopolysaccharidosis type 2 MONDO:0019249 NCIT:C61260 NCIT:C61259 mucopolysaccharidosis +MONDO:0010679 Duchenne muscular dystrophy MONDO:0020121 NCIT:C75482 NCIT:C84910 muscular dystrophy +MONDO:0010702 orofaciodigital syndrome I MONDO:0002254 NCIT:C75481 NCIT:C28193 syndromic disease +MONDO:0010704 otopalatodigital syndrome type 1 MONDO:0002254 NCIT:C118845 NCIT:C28193 syndromic disease +MONDO:0010720 partial androgen insensitivity syndrome MONDO:0019154 NCIT:C120192 NCIT:C27226 androgen insensitivity syndrome +MONDO:0010726 Rett syndrome MONDO:0002254 NCIT:C75488 NCIT:C28193 syndromic disease +MONDO:0010731 Simpson-Golabi-Behmel syndrome MONDO:0002254 NCIT:C131002 NCIT:C28193 syndromic disease +MONDO:0010765 46,XY complete gonadal dysgenesis MONDO:0001967 NCIT:C120198 NCIT:C61420 gonadal dysgenesis MONDO:0010768 gonadoblastoma MONDO:0002478 NCIT:C3754 NCIT:C5241 mixed germ cell-sex cord-stromal tumor +MONDO:0010787 Kearns-Sayre syndrome MONDO:0002254 NCIT:C84798 NCIT:C28193 syndromic disease +MONDO:0010788 Leber hereditary optic neuropathy MONDO:0043878 NCIT:C84808 NCIT:C34864 hereditary optic atrophy +MONDO:0010789 MELAS syndrome MONDO:0002254 NCIT:C84885 NCIT:C28193 syndromic disease +MONDO:0010790 MERRF syndrome MONDO:0002254 NCIT:C84889 NCIT:C28193 syndromic disease MONDO:0010795 oncocytic neoplasm MONDO:0024276 NCIT:C7072 NCIT:C7132 glandular cell neoplasm +MONDO:0010797 Pearson syndrome MONDO:0002254 NCIT:C115326 NCIT:C28193 syndromic disease +MONDO:0010808 fatal familial insomnia MONDO:0013600 NCIT:C84711 NCIT:C28286 insomnia +MONDO:0010811 benign prostatic hyperplasia MONDO:0005043 NCIT:C2897 NCIT:C3113 hyperplasia +MONDO:0010837 primary hyperparathyroidism MONDO:0001741 NCIT:C48280 NCIT:C48259 hyperparathyroidism +MONDO:0010879 CODAS syndrome MONDO:0002254 NCIT:C126744 NCIT:C28193 syndromic disease +MONDO:0010894 maturity-onset diabetes of the young type 3 MONDO:0018911 NCIT:C129742 NCIT:C114769 maturity-onset diabetes of the young +MONDO:0010913 Caroli disease MONDO:0006322 NCIT:C84619 NCIT:C35774 non-neoplastic bile duct disorder +MONDO:0010931 vitamin D-dependent rickets, type 2B MONDO:0019642 NCIT:C131076 NCIT:C131077 vitamin D-dependent rickets, type 2 +MONDO:0010953 Fanconi anemia complementation group E MONDO:0019391 NCIT:C125709 NCIT:C62505 Fanconi anemia +MONDO:0011022 Potocki-Shaffer syndrome MONDO:0002254 NCIT:C75456 NCIT:C28193 syndromic disease +MONDO:0011093 mucopolysaccharidosis type 9 MONDO:0019249 NCIT:C129073 NCIT:C61259 mucopolysaccharidosis +MONDO:0011146 tetrasomy 12p MONDO:0002254 NCIT:C75458 NCIT:C28193 syndromic disease +MONDO:0011147 chromosome 18q deletion syndrome MONDO:0002254 NCIT:C84522 NCIT:C28193 syndromic disease +MONDO:0011178 infantile convulsions and choreoathetosis MONDO:0002254 NCIT:C126650 NCIT:C28193 syndromic disease +MONDO:0011266 myotonic dystrophy type 2 MONDO:0016107 NCIT:C84680 NCIT:C84914 myotonic dystrophy +MONDO:0011281 congenital myasthenic syndrome 5 MONDO:0018940 NCIT:C129304 NCIT:C84647 congenital myasthenic syndrome +MONDO:0011325 Fanconi anemia complementation group F MONDO:0019391 NCIT:C125707 NCIT:C62505 Fanconi anemia MONDO:0011366 ovarian germ cell tumor MONDO:0005040 NCIT:C3873 NCIT:C3708 germ cell tumor MONDO:0011366 ovarian germ cell tumor MONDO:0021068 NCIT:C3873 NCIT:C4984 ovarian neoplasm +MONDO:0011374 hypercholesterolemia, familial, 4 MONDO:0037748 NCIT:C128114 NCIT:C34709 hyperlipoproteinemia +MONDO:0011382 sickle cell anemia MONDO:0019050 NCIT:C34383 NCIT:C3092 inherited hemoglobinopathy +MONDO:0011383 autoimmune lymphoproliferative syndrome type 2A MONDO:0017979 NCIT:C39576 NCIT:C37864 autoimmune lymphoproliferative syndrome +MONDO:0011399 alpha thalassemia MONDO:0000984 NCIT:C34368 NCIT:C35069 thalassemia +MONDO:0011424 Carney triad MONDO:0021058 NCIT:C94833 NCIT:C54705 neoplastic syndrome +MONDO:0011429 juvenile idiopathic arthritis MONDO:0005578 NCIT:C114357 NCIT:C2883 arthritic joint disease +MONDO:0011438 acne MONDO:0002406 NCIT:C27195 NCIT:C2983 dermatitis +MONDO:0011441 complex regional pain syndrome type 1 MONDO:0002254 NCIT:C85042 NCIT:C28193 syndromic disease +MONDO:0011462 pyogenic arthritis-pyoderma gangrenosum-acne syndrome MONDO:0019751 NCIT:C119055 NCIT:C119050 autoinflammatory syndrome MONDO:0011465 infundibulocystic basal cell carcinoma MONDO:0005341 NCIT:C27540 NCIT:C2921 skin basal cell carcinoma +MONDO:0011493 Stickler syndrome type 2 MONDO:0019354 NCIT:C74985 NCIT:C74984 Stickler syndrome +MONDO:0011514 tricuspid atresia MONDO:0005453 NCIT:C85202 NCIT:C95834 congenital heart disease +MONDO:0011528 hyper-IgM syndrome type 2 MONDO:0003947 NCIT:C129074 NCIT:C84783 hyper-IgM syndrome +MONDO:0011531 Noonan syndrome 2 MONDO:0018997 NCIT:C176930 NCIT:C34854 Noonan syndrome +MONDO:0011558 Usher syndrome type 2C MONDO:0016484 NCIT:C153174 NCIT:C126328 Usher syndrome type 2 +MONDO:0011576 familial hyperaldosteronism type II MONDO:0016525 NCIT:C127162 NCIT:C127160 familial hyperaldosteronism +MONDO:0011583 cerebral amyloid angiopathy, APP-related MONDO:0005620 NCIT:C157147 NCIT:C84625 cerebral amyloid angiopathy +MONDO:0011584 Fanconi anemia complementation group D1 MONDO:0019391 NCIT:C125705 NCIT:C62505 Fanconi anemia MONDO:0011655 alveolar soft part sarcoma MONDO:0018078 NCIT:C3750 NCIT:C9306 soft tissue sarcoma +MONDO:0011662 pathological gambling MONDO:0001162 NCIT:C94335 NCIT:C34723 impulse control disorder +MONDO:0011667 maturity-onset diabetes of the young type 4 MONDO:0018911 NCIT:C129746 NCIT:C114769 maturity-onset diabetes of the young +MONDO:0011668 maturity-onset diabetes of the young type 6 MONDO:0018911 NCIT:C129745 NCIT:C114769 maturity-onset diabetes of the young +MONDO:0011686 DNA ligase IV deficiency MONDO:0002254 NCIT:C122657 NCIT:C28193 syndromic disease MONDO:0011705 lymphangioleiomyomatosis MONDO:0006359 NCIT:C3725 NCIT:C38150 neoplasm with perivascular epithelioid cell differentiation +MONDO:0011709 split hand-foot malformation 5 MONDO:0016576 NCIT:C75002 NCIT:C75000 split hand-foot malformation +MONDO:0011716 acute hemorrhagic leukoencephalitis MONDO:0003337 NCIT:C84535 NCIT:C35796 acute hemorrhagic encephalitis +MONDO:0011740 Carney-Stratakis syndrome MONDO:0015356 NCIT:C94831 NCIT:C3266 hereditary neoplastic syndrome +MONDO:0011758 Hurler syndrome MONDO:0001586 NCIT:C61261 NCIT:C85053 mucopolysaccharidosis type 1 +MONDO:0011758 Hurler syndrome MONDO:0002254 NCIT:C61261 NCIT:C28193 syndromic disease +MONDO:0011759 Hurler-Scheie syndrome MONDO:0001586 NCIT:C122782 NCIT:C85053 mucopolysaccharidosis type 1 +MONDO:0011759 Hurler-Scheie syndrome MONDO:0002254 NCIT:C122782 NCIT:C28193 syndromic disease +MONDO:0011760 Scheie syndrome MONDO:0001586 NCIT:C61265 NCIT:C85053 mucopolysaccharidosis type 1 +MONDO:0011760 Scheie syndrome MONDO:0002254 NCIT:C61265 NCIT:C28193 syndromic disease +MONDO:0011784 Moyamoya disease 2 MONDO:0016820 NCIT:C183312 NCIT:C84895 Moyamoya disease +MONDO:0011786 allergic rhinitis MONDO:0003014 NCIT:C79532 NCIT:C34986 rhinitis MONDO:0011789 familial meningioma MONDO:0016642 NCIT:C5301 NCIT:C3230 meningioma +MONDO:0011826 glucocorticoid deficiency 2 MONDO:0008733 NCIT:C123728 NCIT:C120446 familial glucocorticoid deficiency +MONDO:0011827 patent ductus arteriosus MONDO:0005385 NCIT:C84492 NCIT:C35117 vascular disorder +MONDO:0011885 tubulointerstitial nephritis and uveitis syndrome MONDO:0002254 NCIT:C123021 NCIT:C28193 syndromic disease MONDO:0011927 tufted angioma MONDO:0003110 NCIT:C4487 NCIT:C4905 skin hemangioma +MONDO:0011959 sweet syndrome MONDO:0002254 NCIT:C85177 NCIT:C28193 syndromic disease MONDO:0011962 endometrial cancer MONDO:0021251 NCIT:C27815 NCIT:C3012 endometrium neoplasm MONDO:0011996 chronic myelogenous leukemia, BCR-ABL1 positive MONDO:0004643 NCIT:C3174 NCIT:C3172 myeloid leukemia +MONDO:0011997 Hermansky-Pudlak syndrome 2 MONDO:0019312 NCIT:C150368 NCIT:C37261 Hermansky-Pudlak syndrome +MONDO:0012000 specific phobia MONDO:0003699 NCIT:C35284 NCIT:C35420 phobic disorder MONDO:0012004 parathyroid gland carcinoma MONDO:0004970 NCIT:C4906 NCIT:C2852 adenocarcinoma MONDO:0012004 parathyroid gland carcinoma MONDO:0021311 NCIT:C4906 NCIT:C9322 malignant tumor of parathyroid gland +MONDO:0012078 Joubert syndrome 3 MONDO:0018772 NCIT:C148259 NCIT:C74996 Joubert syndrome +MONDO:0012089 ichthyosis prematurity syndrome MONDO:0043905 NCIT:C62590 NCIT:C113159 pneumonitis +MONDO:0012104 acquired partial lipodystrophy MONDO:0027767 NCIT:C129723 NCIT:C131296 partial lipodystrophy +MONDO:0012105 granulomatosis with polyangiitis MONDO:0002462 NCIT:C123111 NCIT:C26784 glomerulonephritis +MONDO:0012172 mitochondrial trifunctional protein deficiency MONDO:0002525 NCIT:C98991 NCIT:C97092 inherited lipid metabolism disorder +MONDO:0012186 Fanconi anemia complementation group I MONDO:0019391 NCIT:C129026 NCIT:C62505 Fanconi anemia +MONDO:0012187 Fanconi anemia complementation group J MONDO:0019391 NCIT:C129027 NCIT:C62505 Fanconi anemia +MONDO:0012212 Loeys-Dietz syndrome 1 MONDO:0018954 NCIT:C75119 NCIT:C75006 Loeys-Dietz syndrome +MONDO:0012252 rhabdoid tumor predisposition syndrome 1 MONDO:0016473 NCIT:C178393 NCIT:C93268 familial rhabdoid tumor +MONDO:0012268 AIDS MONDO:0003780 NCIT:C2851 NCIT:C27145 T-cell immunodeficiency +MONDO:0012275 fetal valproate syndrome MONDO:0002254 NCIT:C98930 NCIT:C28193 syndromic disease +MONDO:0012308 Joubert syndrome with renal defect MONDO:0018772 NCIT:C74997 NCIT:C74996 Joubert syndrome +MONDO:0012316 Majeed syndrome MONDO:0019751 NCIT:C119058 NCIT:C119050 autoinflammatory syndrome +MONDO:0012371 Noonan syndrome 3 MONDO:0018997 NCIT:C176931 NCIT:C34854 Noonan syndrome +MONDO:0012383 primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency MONDO:0021094 NCIT:C123729 NCIT:C3131 immunodeficiency disease +MONDO:0012400 cortical dysplasia-focal epilepsy syndrome MONDO:0002254 NCIT:C133743 NCIT:C28193 syndromic disease +MONDO:0012427 Loeys-Dietz syndrome 2 MONDO:0018954 NCIT:C114768 NCIT:C75006 Loeys-Dietz syndrome +MONDO:0012435 3-methylglutaconic aciduria type 5 MONDO:0017359 NCIT:C173146 NCIT:C98678 3-methylglutaconic aciduria +MONDO:0012521 herpes simplex encephalitis MONDO:0006009 NCIT:C84762 NCIT:C35302 viral encephalitis +MONDO:0012529 Diamond-Blackfan anemia 3 MONDO:0015253 NCIT:C176912 NCIT:C61236 Diamond-Blackfan anemia +MONDO:0012531 xeroderma pigmentosum group B MONDO:0019600 NCIT:C3966 NCIT:C3452 xeroderma pigmentosum +MONDO:0012547 Noonan syndrome 4 MONDO:0018997 NCIT:C176932 NCIT:C34854 Noonan syndrome MONDO:0012552 multiple endocrine neoplasia type 4 MONDO:0017169 NCIT:C157449 NCIT:C6432 multiple endocrine neoplasia +MONDO:0012554 cerebrooculofacioskeletal syndrome 4 MONDO:0008926 NCIT:C173104 NCIT:C3817 COFS syndrome +MONDO:0012574 Potocki-Lupski syndrome MONDO:0002254 NCIT:C124846 NCIT:C28193 syndromic disease +MONDO:0012589 Pitt-Hopkins syndrome MONDO:0002254 NCIT:C129872 NCIT:C28193 syndromic disease +MONDO:0012590 XFE progeroid syndrome MONDO:0002254 NCIT:C173111 NCIT:C28193 syndromic disease +MONDO:0012690 Noonan syndrome 5 MONDO:0018997 NCIT:C176933 NCIT:C34854 Noonan syndrome +MONDO:0012694 Joubert syndrome 7 MONDO:0018772 NCIT:C159653 NCIT:C74996 Joubert syndrome +MONDO:0012727 mucocutaneous lymph node syndrome MONDO:0018882 NCIT:C34825 NCIT:C26912 vasculitis +MONDO:0012806 ectodermal dysplasia and immunodeficiency 2 MONDO:0010293 NCIT:C176826 NCIT:C118844 ectodermal dysplasia and immune deficiency +MONDO:0012812 developmental and epileptic encephalopathy, 4 MONDO:0100062 NCIT:C162472 NCIT:C122814 developmental and epileptic encephalopathy MONDO:0012817 Ewing sarcoma MONDO:0005089 NCIT:C4817 NCIT:C9118 sarcoma MONDO:0012817 Ewing sarcoma MONDO:0021038 NCIT:C4817 NCIT:C27291 Ewing sarcoma/peripheral primitive neuroectodermal tumor MONDO:0012825 extraskeletal myxoid chondrosarcoma MONDO:0018078 NCIT:C27502 NCIT:C9306 soft tissue sarcoma +MONDO:0012849 Joubert syndrome 9 MONDO:0018772 NCIT:C181002 NCIT:C74996 Joubert syndrome +MONDO:0012897 congenital factor XI deficiency MONDO:0020587 NCIT:C84705 NCIT:C131739 factor XI deficiency +MONDO:0012924 Diamond-Blackfan anemia 4 MONDO:0015253 NCIT:C176913 NCIT:C61236 Diamond-Blackfan anemia +MONDO:0012925 Diamond-Blackfan anemia 5 MONDO:0015253 NCIT:C176914 NCIT:C61236 Diamond-Blackfan anemia +MONDO:0012937 Diamond-Blackfan anemia 6 MONDO:0015253 NCIT:C176915 NCIT:C61236 Diamond-Blackfan anemia +MONDO:0012938 Diamond-Blackfan anemia 7 MONDO:0015253 NCIT:C176916 NCIT:C61236 Diamond-Blackfan anemia +MONDO:0012939 Diamond-Blackfan anemia 8 MONDO:0015253 NCIT:C176917 NCIT:C61236 Diamond-Blackfan anemia +MONDO:0013021 sterile multifocal osteomyelitis with periostitis and pustulosis MONDO:0019751 NCIT:C119056 NCIT:C119050 autoinflammatory syndrome MONDO:0013074 encephalocraniocutaneous lipomatosis MONDO:0006574 NCIT:C4701 NCIT:C3193 lipomatosis +MONDO:0013081 lymphoproliferative syndrome 1 MONDO:0021094 NCIT:C126344 NCIT:C3131 immunodeficiency disease +MONDO:0013098 noise induced hearing loss MONDO:0005365 NCIT:C34664 NCIT:C35731 hearing loss disorder +MONDO:0013118 Nijmegen breakage syndrome-like disorder MONDO:0021190 NCIT:C153178 NCIT:C7757 DNA repair disease +MONDO:0013131 polycystic kidney disease 2 MONDO:0004691 NCIT:C123166 NCIT:C84578 autosomal dominant polycystic kidney disease +MONDO:0013186 Noonan syndrome 6 MONDO:0018997 NCIT:C176934 NCIT:C34854 Noonan syndrome +MONDO:0013189 trichotillomania MONDO:0001162 NCIT:C94336 NCIT:C34723 impulse control disorder +MONDO:0013199 tuberous sclerosis 2 MONDO:0001734 NCIT:C75331 NCIT:C3424 tuberous sclerosis +MONDO:0013216 Diamond-Blackfan anemia 9 MONDO:0015253 NCIT:C176918 NCIT:C61236 Diamond-Blackfan anemia +MONDO:0013217 Diamond-Blackfan anemia 10 MONDO:0015253 NCIT:C176919 NCIT:C61236 Diamond-Blackfan anemia +MONDO:0013224 rhabdoid tumor predisposition syndrome 2 MONDO:0016473 NCIT:C178394 NCIT:C93268 familial rhabdoid tumor +MONDO:0013282 alpha 1-antitrypsin deficiency MONDO:0002254 NCIT:C84397 NCIT:C28193 syndromic disease MONDO:0013296 myeloid neoplasm associated with FGFR1 rearrangement MONDO:0015688 NCIT:C84277 NCIT:C84270 myeloid/lymphoid neoplasms associated with eosinophilia and abnormality of PDGFRA, PDGFRB, FGFR1 or JAK2 +MONDO:0013310 congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency MONDO:0018479 NCIT:C174439 NCIT:C34360 congenital adrenal hyperplasia +MONDO:0013327 primary hyperoxaluria type 3 MONDO:0002474 NCIT:C123214 NCIT:C123158 primary hyperoxaluria +MONDO:0013364 Rubinstein-Taybi syndrome due to EP300 haploinsufficiency MONDO:0019188 NCIT:C153291 NCIT:C75466 Rubinstein-Taybi syndrome +MONDO:0013379 Noonan syndrome 7 MONDO:0018997 NCIT:C176935 NCIT:C34854 Noonan syndrome +MONDO:0013512 hemoglobin H disease MONDO:0011399 NCIT:C95504 NCIT:C34368 alpha thalassemia +MONDO:0013519 dyskeratosis congenita, autosomal recessive 2 MONDO:0015780 NCIT:C176926 NCIT:C111802 dyskeratosis congenita +MONDO:0013520 dyskeratosis congenita, autosomal recessive 3 MONDO:0015780 NCIT:C176927 NCIT:C111802 dyskeratosis congenita +MONDO:0013521 dyskeratosis congenita, autosomal dominant 2 MONDO:0015780 NCIT:C176922 NCIT:C111802 dyskeratosis congenita +MONDO:0013522 dyskeratosis congenita, autosomal dominant 3 MONDO:0015780 NCIT:C176923 NCIT:C111802 dyskeratosis congenita +MONDO:0013551 hereditary spastic paraplegia 47 MONDO:0019064 NCIT:C164224 NCIT:C140267 hereditary spastic paraplegia +MONDO:0013565 Fanconi anemia complementation group G MONDO:0019391 NCIT:C125708 NCIT:C62505 Fanconi anemia +MONDO:0013600 insomnia MONDO:0100081 NCIT:C28286 NCIT:C3376 sleep disorder +MONDO:0013626 psoriasis 14, pustular MONDO:0019751 NCIT:C119057 NCIT:C119050 autoinflammatory syndrome +MONDO:0013688 linear and whorled nevoid hypermelanosis MONDO:0006499 NCIT:C3924 NCIT:C3075 hamartoma +MONDO:0013824 Joubert syndrome 17 MONDO:0018772 NCIT:C175702 NCIT:C74996 Joubert syndrome +MONDO:0013860 idiopathic membranous glomerulonephritis MONDO:0005376 NCIT:C123060 NCIT:C34645 membranous glomerulonephritis +MONDO:0013873 IMAGe syndrome MONDO:0002254 NCIT:C130988 NCIT:C28193 syndromic disease +MONDO:0013874 glucocorticoid deficiency 4 MONDO:0008733 NCIT:C131452 NCIT:C120446 familial glucocorticoid deficiency +MONDO:0013898 karyomegalic interstitial nephritis MONDO:0001085 NCIT:C173626 NCIT:C26834 interstitial nephritis +MONDO:0013964 Diamond-Blackfan anemia 11 MONDO:0015253 NCIT:C176920 NCIT:C61236 Diamond-Blackfan anemia +MONDO:0014040 autosomal recessive osteopetrosis 8 MONDO:0019026 NCIT:C150556 NCIT:C129733 autosomal recessive osteopetrosis +MONDO:0014042 left ventricular noncompaction 7 MONDO:0018901 NCIT:C157266 NCIT:C99544 left ventricular noncompaction +MONDO:0014143 Noonan syndrome 8 MONDO:0018997 NCIT:C176936 NCIT:C34854 Noonan syndrome +MONDO:0014221 triosephosphate isomerase deficiency MONDO:0003689 NCIT:C131652 NCIT:C34379 familial hemolytic anemia +MONDO:0014221 triosephosphate isomerase deficiency MONDO:0020585 NCIT:C131652 NCIT:C131630 anemia due to erythrocyte enzyme disorder +MONDO:0014247 familial episodic pain syndrome with predominantly lower limb involvement MONDO:0002254 NCIT:C125390 NCIT:C28193 syndromic disease +MONDO:0014328 developmental and epileptic encephalopathy, 19 MONDO:0100062 NCIT:C142802 NCIT:C122814 developmental and epileptic encephalopathy +MONDO:0014448 hyperthyroxinemia, familial dysalbuminemic MONDO:0004425 NCIT:C131813 NCIT:C3123 hyperthyroidism +MONDO:0014521 progressive myoclonic epilepsy type 7 MONDO:0020074 NCIT:C142804 NCIT:C7636 progressive myoclonus epilepsy +MONDO:0014541 motor developmental delay due to 14q32.2 paternally expressed gene defect MONDO:0002254 NCIT:C120409 NCIT:C28193 syndromic disease +MONDO:0014600 dyskeratosis congenita, autosomal recessive 6 MONDO:0015780 NCIT:C176929 NCIT:C111802 dyskeratosis congenita +MONDO:0014690 dyskeratosis congenita, autosomal dominant 6 MONDO:0015780 NCIT:C176924 NCIT:C111802 dyskeratosis congenita +MONDO:0014691 Noonan syndrome 9 MONDO:0018997 NCIT:C176937 NCIT:C34854 Noonan syndrome +MONDO:0014693 Noonan syndrome 10 MONDO:0018997 NCIT:C176938 NCIT:C34854 Noonan syndrome +MONDO:0014888 MIRAGE syndrome MONDO:0002254 NCIT:C147530 NCIT:C28193 syndromic disease +MONDO:0015028 48,XXYY syndrome MONDO:0002254 NCIT:C89801 NCIT:C28193 syndromic disease MONDO:0015032 intraneural perineurioma MONDO:0019404 NCIT:C6911 NCIT:C4973 perineurioma +MONDO:0015040 myelodysplastic syndrome with excess blasts-1 MONDO:0019454 NCIT:C7167 NCIT:C7506 myelodysplastic syndrome with excess blasts +MONDO:0015041 myelodysplastic syndrome with excess blasts-2 MONDO:0019454 NCIT:C7168 NCIT:C7506 myelodysplastic syndrome with excess blasts MONDO:0015044 mu-heavy chain disease MONDO:0019464 NCIT:C3892 NCIT:C3082 heavy chain disease MONDO:0015045 alpha-heavy chain disease MONDO:0019464 NCIT:C3132 NCIT:C3082 heavy chain disease MONDO:0015046 gamma-heavy chain disease MONDO:0019464 NCIT:C3083 NCIT:C3082 heavy chain disease @@ -2962,28 +4282,70 @@ MONDO:0015066 neuroendocrine tumor of the appendix, well differentiated, low or MONDO:0015067 neuroendocrine tumor of the colon, well differentiated, low or intermediate grade tumor MONDO:0002882 NCIT:C135212 NCIT:C5697 colon neuroendocrine neoplasm MONDO:0015068 neuroendocrine tumor of rectum, well differentiated, low or intermediate grade MONDO:0003646 NCIT:C135213 NCIT:C5698 rectum neuroendocrine neoplasm MONDO:0015069 neuroendocrine tumor of the anal canal MONDO:0003504 NCIT:C96540 NCIT:C5603 anal canal neuroendocrine neoplasm +MONDO:0015070 laryngeal neuroendocrine neoplasm MONDO:0019496 NCIT:C6023 NCIT:C3809 neuroendocrine neoplasm MONDO:0015070 laryngeal neuroendocrine neoplasm MONDO:0021071 NCIT:C6023 NCIT:C3156 laryngeal neoplasm MONDO:0015072 liver neuroendocrine carcinoma MONDO:0018531 NCIT:C96787 NCIT:C7927 carcinoma of liver and intrahepatic biliary tract MONDO:0015073 gallbladder neuroendocrine tumor, grade 1/2 MONDO:0000386 NCIT:C96918 NCIT:C95404 digestive system neuroendocrine tumor, grade 1/2 MONDO:0015073 gallbladder neuroendocrine tumor, grade 1/2 MONDO:0024502 NCIT:C96918 NCIT:C96917 gallbladder neuroendocrine neoplasm MONDO:0015074 thyroid tumor MONDO:0003240 NCIT:C3414 NCIT:C26893 thyroid gland disorder MONDO:0015075 thyroid gland carcinoma MONDO:0002108 NCIT:C4815 NCIT:C7510 thyroid cancer +MONDO:0015104 porphyria cutanea tarda MONDO:0002406 NCIT:C27725 NCIT:C2983 dermatitis +MONDO:0015129 chronic primary adrenal insufficiency MONDO:0015128 NCIT:C26689 NCIT:C113172 primary adrenal insufficiency +MONDO:0015131 combined immunodeficiency MONDO:0021094 NCIT:C27871 NCIT:C3131 immunodeficiency disease +MONDO:0015134 constitutional neutropenia MONDO:0009332 NCIT:C61242 NCIT:C104003 congenital hematological disorder +MONDO:0015194 sideroblastic anemia MONDO:0002280 NCIT:C36078 NCIT:C2869 anemia +MONDO:0015228 pentasomy X MONDO:0002254 NCIT:C89802 NCIT:C28193 syndromic disease +MONDO:0015229 Bardet-Biedl syndrome MONDO:0002254 NCIT:C118632 NCIT:C28193 syndromic disease +MONDO:0015231 Bartter syndrome MONDO:0002254 NCIT:C34412 NCIT:C28193 syndromic disease +MONDO:0015243 allergic bronchopulmonary aspergillosis MONDO:0005657 NCIT:C84547 NCIT:C2886 aspergillosis +MONDO:0015249 mitral atresia disorder MONDO:0003767 NCIT:C98992 NCIT:C78446 mitral valve disorder +MONDO:0015249 mitral atresia disorder MONDO:0005453 NCIT:C98992 NCIT:C95834 congenital heart disease +MONDO:0015253 Diamond-Blackfan anemia MONDO:0001705 NCIT:C61236 NCIT:C34974 pure red-cell aplasia +MONDO:0015263 Brugada syndrome MONDO:0002254 NCIT:C142891 NCIT:C28193 syndromic disease +MONDO:0015267 Feingold syndrome MONDO:0002254 NCIT:C74987 NCIT:C28193 syndromic disease +MONDO:0015268 medullary sponge kidney MONDO:0002473 NCIT:C34751 NCIT:C34750 cystic kidney disease MONDO:0015278 familial pancreatic carcinoma MONDO:0005192 NCIT:C43298 NCIT:C3850 exocrine pancreatic carcinoma +MONDO:0015288 herpes simplex virus keratitis MONDO:0023865 NCIT:C34743 NCIT:C83813 corneal infection +MONDO:0015342 acute transverse myelitis MONDO:0002565 NCIT:C128378 NCIT:C26832 myelitis +MONDO:0015356 hereditary neoplastic syndrome MONDO:0003847 NCIT:C3266 NCIT:C3101 hereditary disease +MONDO:0015356 hereditary neoplastic syndrome MONDO:0021058 NCIT:C3266 NCIT:C54705 neoplastic syndrome +MONDO:0015397 craniofacial microsomia 1 MONDO:0002254 NCIT:C84740 NCIT:C28193 syndromic disease MONDO:0015403 non-involuting congenital hemangioma MONDO:0018715 NCIT:C172208 NCIT:C3841 congenital hemangioma MONDO:0015404 rapidly involuting congenital hemangioma MONDO:0018715 NCIT:C172207 NCIT:C3841 congenital hemangioma +MONDO:0015426 Desbuquois dysplasia MONDO:0005516 NCIT:C124056 NCIT:C84978 osteochondrodysplasia +MONDO:0015452 Coffin-Siris syndrome MONDO:0002254 NCIT:C35321 NCIT:C28193 syndromic disease +MONDO:0015455 gonococcal conjunctivitis MONDO:0006668 NCIT:C116816 NCIT:C53656 bacterial conjunctivitis MONDO:0015459 nasopharyngeal carcinoma MONDO:0021315 NCIT:C3871 NCIT:C9321 malignant tumor of nasopharynx MONDO:0015459 nasopharyngeal carcinoma MONDO:0021345 NCIT:C3871 NCIT:C9466 carcinoma of pharynx +MONDO:0015461 short rib-polydactyly syndrome MONDO:0002254 NCIT:C85065 NCIT:C28193 syndromic disease +MONDO:0015517 common variable immunodeficiency MONDO:0016463 NCIT:C26725 NCIT:C26931 syndromic agammaglobulinemia MONDO:0015523 epithelioid hemangioendothelioma MONDO:0002095 NCIT:C3800 NCIT:C8538 vascular cancer MONDO:0015523 epithelioid hemangioendothelioma MONDO:0021121 NCIT:C3800 NCIT:C3084 hemangioendothelioma +MONDO:0015530 trigeminal autonomic cephalalgia MONDO:0043218 NCIT:C117074 NCIT:C117007 neurovascular disorder MONDO:0015538 indeterminate dendritic cell tumor MONDO:0006247 NCIT:C81767 NCIT:C9294 histiocytic and dendritic cell neoplasm +MONDO:0015540 hemophagocytic syndrome MONDO:0002254 NCIT:C35439 NCIT:C28193 syndromic disease +MONDO:0015542 secondary hemophagocytic lymphohistiocytosis MONDO:0015540 NCIT:C121184 NCIT:C34792 hemophagocytic syndrome +MONDO:0015573 subacute cutaneous lupus erythematosus MONDO:0005282 NCIT:C117111 NCIT:C26819 cutaneous lupus erythematosus +MONDO:0015597 pustulosis palmaris et plantaris MONDO:0002406 NCIT:C34888 NCIT:C2983 dermatitis +MONDO:0015635 porokeratotic eccrine ostial and dermal duct nevus MONDO:0024482 NCIT:C4740 NCIT:C5564 eccrine sweat gland hamartoma +MONDO:0015663 diencephalic syndrome MONDO:0002254 NCIT:C116955 NCIT:C28193 syndromic disease MONDO:0015667 acute myeloid leukemia by FAB classification MONDO:0018874 NCIT:C27753 NCIT:C3171 acute myeloid leukemia +MONDO:0015681 childhood disintegrative disorder MONDO:0000594 NCIT:C97164 NCIT:C97179 pervasive developmental disorder MONDO:0015687 chronic eosinophilic leukemia MONDO:0001014 NCIT:C4563 NCIT:C3483 chronic leukemia MONDO:0015687 chronic eosinophilic leukemia MONDO:0020076 NCIT:C4563 NCIT:C4345 myeloproliferative neoplasm MONDO:0015688 myeloid/lymphoid neoplasms associated with eosinophilia and abnormality of PDGFRA, PDGFRB, FGFR1 or JAK2 MONDO:0044881 NCIT:C84270 NCIT:C27134 hematopoietic and lymphoid cell neoplasm MONDO:0015689 myeloid neoplasm associated with PDGFRA rearrangement MONDO:0015688 NCIT:C84275 NCIT:C84270 myeloid/lymphoid neoplasms associated with eosinophilia and abnormality of PDGFRA, PDGFRB, FGFR1 or JAK2 MONDO:0015690 myeloid neoplasm associated with PDGFRB rearrangement MONDO:0015688 NCIT:C84276 NCIT:C84270 myeloid/lymphoid neoplasms associated with eosinophilia and abnormality of PDGFRA, PDGFRB, FGFR1 or JAK2 +MONDO:0015691 hypereosinophilic syndrome MONDO:0002254 NCIT:C27038 NCIT:C28193 syndromic disease +MONDO:0015698 transient hypogammaglobulinemia of infancy MONDO:0003827 NCIT:C27071 NCIT:C27319 transient hypogammaglobulinemia +MONDO:0015742 periventricular leukomalacia MONDO:0006741 NCIT:C99013 NCIT:C98920 encephalomalacia +MONDO:0015759 B-cell non-Hodgkin lymphoma MONDO:0004095 NCIT:C3457 NCIT:C27907 B-cell neoplasm MONDO:0015759 B-cell non-Hodgkin lymphoma MONDO:0018908 NCIT:C3457 NCIT:C3211 non-Hodgkin lymphoma MONDO:0015760 T-cell non-Hodgkin lymphoma MONDO:0018908 NCIT:C3466 NCIT:C3211 non-Hodgkin lymphoma +MONDO:0015762 progressive familial intrahepatic cholestasis MONDO:0002254 NCIT:C84453 NCIT:C28193 syndromic disease +MONDO:0015770 congenital hypogonadotropic hypogonadism MONDO:0018555 NCIT:C120162 NCIT:C113347 hypogonadotropic hypogonadism +MONDO:0015776 rhizomelic chondrodysplasia punctata MONDO:0019701 NCIT:C85047 NCIT:C84632 chondrodysplasia punctata +MONDO:0015779 45,X/46,XY mixed gonadal dysgenesis MONDO:0001967 NCIT:C120199 NCIT:C61420 gonadal dysgenesis MONDO:0015808 folliculotropic mycosis fungoides MONDO:0045071 NCIT:C35685 NCIT:C39644 mycosis fungoides variant MONDO:0015809 localized pagetoid reticulosis MONDO:0045071 NCIT:C35794 NCIT:C39644 mycosis fungoides variant MONDO:0015864 mixed germ cell tumor MONDO:0006290 NCIT:C4290 NCIT:C4925 malignant germ cell tumor @@ -2993,18 +4355,43 @@ MONDO:0015871 benign breast phyllodes tumor MONDO:0021047 NCIT:C5196 NCIT:C7575 MONDO:0015871 benign breast phyllodes tumor MONDO:0037002 NCIT:C5196 NCIT:C4274 benign phyllodes tumor MONDO:0015873 Paget disease of the nipple MONDO:0002648 NCIT:C3301 NCIT:C47857 mammary Paget disease MONDO:0015873 Paget disease of the nipple MONDO:0003950 NCIT:C3301 NCIT:C28432 nipple carcinoma +MONDO:0015892 growth hormone insensitivity syndrome MONDO:0002254 NCIT:C129867 NCIT:C28193 syndromic disease +MONDO:0015903 hyperalphalipoproteinemia MONDO:0037748 NCIT:C128806 NCIT:C34709 hyperlipoproteinemia +MONDO:0015909 aplastic anemia MONDO:0002280 NCIT:C2870 NCIT:C2869 anemia +MONDO:0015912 macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss MONDO:0002254 NCIT:C131646 NCIT:C28193 syndromic disease +MONDO:0015926 pneumoconiosis MONDO:0015925 NCIT:C26861 NCIT:C164315 interstitial lung disease +MONDO:0015943 eosinophilic granulomatosis with polyangiitis MONDO:0002254 NCIT:C34481 NCIT:C28193 syndromic disease +MONDO:0015967 monogenic diabetes MONDO:0005015 NCIT:C129739 NCIT:C2985 diabetes mellitus +MONDO:0015974 severe combined immunodeficiency MONDO:0015131 NCIT:C3472 NCIT:C27871 combined immunodeficiency +MONDO:0015986 bilateral renal agenesis MONDO:0018470 NCIT:C101219 NCIT:C99041 renal agenesis +MONDO:0015987 scimitar syndrome MONDO:0002254 NCIT:C85056 NCIT:C28193 syndromic disease +MONDO:0015988 multicystic dysplastic kidney MONDO:0002473 NCIT:C123031 NCIT:C34750 cystic kidney disease +MONDO:0015991 citrullinemia MONDO:0004739 NCIT:C84639 NCIT:C84785 urea cycle disorder +MONDO:0016001 2-hydroxyglutaric aciduria MONDO:0019052 NCIT:C128187 NCIT:C34816 inborn errors of metabolism +MONDO:0016002 Ehlers-Danlos syndrome, kyphoscoliotic type 1 MONDO:0020066 NCIT:C125700 NCIT:C34568 Ehlers-Danlos syndrome +MONDO:0016008 fetal hydantoin syndrome MONDO:0002254 NCIT:C98927 NCIT:C28193 syndromic disease +MONDO:0016010 vitamin K-antagonist embryofetopathy MONDO:0002254 NCIT:C98906 NCIT:C28193 syndromic disease +MONDO:0016011 fetal alcohol syndrome MONDO:0002254 NCIT:C84713 NCIT:C28193 syndromic disease +MONDO:0016030 Evans syndrome MONDO:0002254 NCIT:C61284 NCIT:C28193 syndromic disease +MONDO:0016033 Cornelia de Lange syndrome MONDO:0002254 NCIT:C75016 NCIT:C28193 syndromic disease MONDO:0016037 superficial Fibromatosis MONDO:0005031 NCIT:C6814 NCIT:C3042 fibromatosis MONDO:0016038 calcified aponeurotic fibroma MONDO:0005167 NCIT:C4818 NCIT:C3041 fibroma +MONDO:0016085 Cole-Carpenter syndrome MONDO:0002254 NCIT:C130985 NCIT:C28193 syndromic disease MONDO:0016093 borderline epithelial tumor of ovary MONDO:0002229 NCIT:C4783 NCIT:C4381 ovarian epithelial tumor MONDO:0016095 vaginal rhabdomyosarcoma MONDO:0002140 NCIT:C128080 NCIT:C7737 vagina sarcoma MONDO:0016095 vaginal rhabdomyosarcoma MONDO:0005212 NCIT:C128080 NCIT:C3359 rhabdomyosarcoma MONDO:0016096 malignant non-dysgerminomatous germ cell tumor of ovary MONDO:0003408 NCIT:C102870 NCIT:C39986 ovarian primitive germ cell tumor MONDO:0016096 malignant non-dysgerminomatous germ cell tumor of ovary MONDO:0021656 NCIT:C102870 NCIT:C121619 nongerminomatous germ cell tumor +MONDO:0016129 eosinophilic gastroenteritis MONDO:0002269 NCIT:C35330 NCIT:C34632 gastroenteritis MONDO:0016167 optic pathway glioma MONDO:0021042 NCIT:C8567 NCIT:C3059 glioma MONDO:0016216 adult hepatocellular carcinoma MONDO:0007256 NCIT:C7956 NCIT:C3099 hepatocellular carcinoma +MONDO:0016218 Guillain-Barre syndrome MONDO:0002254 NCIT:C116345 NCIT:C28193 syndromic disease MONDO:0016222 spindle cell hemangioma MONDO:0006500 NCIT:C4754 NCIT:C3085 hemangioma MONDO:0016236 kaposiform hemangioendothelioma MONDO:0021121 NCIT:C27510 NCIT:C3084 hemangioendothelioma MONDO:0016238 solitary fibrous tumor MONDO:0006209 NCIT:C7634 NCIT:C7075 fibroblastic neoplasm +MONDO:0016242 hemoglobin C disease MONDO:0019050 NCIT:C34675 NCIT:C3092 inherited hemoglobinopathy +MONDO:0016243 hemoglobin E disease MONDO:0019050 NCIT:C35287 NCIT:C3092 inherited hemoglobinopathy +MONDO:0016244 atypical hemolytic-uremic syndrome MONDO:0002254 NCIT:C123223 NCIT:C28193 syndromic disease MONDO:0016255 uterine corpus mixed epithelial and mesenchymal neoplasm MONDO:0021043 NCIT:C40181 NCIT:C6930 mixed neoplasm MONDO:0016255 uterine corpus mixed epithelial and mesenchymal neoplasm MONDO:0021254 NCIT:C40181 NCIT:C6300 corpus uteri neoplasm MONDO:0016258 uterine corpus carcinofibroma MONDO:0002879 NCIT:C40182 NCIT:C6311 uterine body mixed cancer @@ -3014,12 +4401,39 @@ MONDO:0016260 uterine corpus rhabdomyosarcoma MONDO:0005210 NCIT:C127058 NCIT:C6 MONDO:0016260 uterine corpus rhabdomyosarcoma MONDO:0005212 NCIT:C127058 NCIT:C3359 rhabdomyosarcoma MONDO:0016262 leiomyosarcoma of the corpus uteri MONDO:0005058 NCIT:C6340 NCIT:C3158 leiomyosarcoma MONDO:0016262 leiomyosarcoma of the corpus uteri MONDO:0005210 NCIT:C6340 NCIT:C6339 uterine corpus sarcoma +MONDO:0016264 autoimmune hepatitis MONDO:0002251 NCIT:C27029 NCIT:C3095 hepatitis +MONDO:0016281 46,XX ovotesticular disorder of sex development MONDO:0002145 NCIT:C127167 NCIT:C103186 disorder of sexual differentiation MONDO:0016282 rhabdomyosarcoma of the cervix uteri MONDO:0005212 NCIT:C128048 NCIT:C3359 rhabdomyosarcoma MONDO:0016283 leiomyosarcoma of the cervix uteri MONDO:0005058 NCIT:C128047 NCIT:C3158 leiomyosarcoma +MONDO:0016296 holoprosencephaly MONDO:0002254 NCIT:C74988 NCIT:C28193 syndromic disease +MONDO:0016301 congenitally corrected transposition of the great arteries MONDO:0000153 NCIT:C98902 NCIT:C84742 transposition of the great arteries +MONDO:0016322 neuroendocrine cell hyperplasia of infancy MONDO:0005043 NCIT:C120169 NCIT:C3113 hyperplasia +MONDO:0016349 congenital hydrocephalus MONDO:0001150 NCIT:C98876 NCIT:C3111 hydrocephalus +MONDO:0016349 congenital hydrocephalus MONDO:0002320 NCIT:C98876 NCIT:C97172 congenital nervous system disorder +MONDO:0016356 diffuse cutaneous systemic sclerosis MONDO:0005100 NCIT:C116791 NCIT:C72070 systemic sclerosis +MONDO:0016359 limited systemic sclerosis MONDO:0005100 NCIT:C116789 NCIT:C72070 systemic sclerosis +MONDO:0016367 dermatomyositis MONDO:0005554 NCIT:C26744 NCIT:C27204 rheumatic disorder +MONDO:0016368 Rothmund-Thomson syndrome type 1 MONDO:0010002 NCIT:C178826 NCIT:C3335 Rothmund-Thomson syndrome +MONDO:0016369 Rothmund-Thomson syndrome type 2 MONDO:0010002 NCIT:C178827 NCIT:C3335 Rothmund-Thomson syndrome +MONDO:0016383 nephrogenic diabetes insipidus MONDO:0004782 NCIT:C84919 NCIT:C43263 diabetes insipidus MONDO:0016419 hereditary breast carcinoma MONDO:0004989 NCIT:C4503 NCIT:C4872 breast carcinoma +MONDO:0016453 foodborne botulism MONDO:0005498 NCIT:C128341 NCIT:C84599 botulism +MONDO:0016466 asbestosis MONDO:0015926 NCIT:C84573 NCIT:C26861 pneumoconiosis +MONDO:0016467 isotretinoin syndrome MONDO:0002254 NCIT:C98929 NCIT:C28193 syndromic disease +MONDO:0016473 familial rhabdoid tumor MONDO:0015356 NCIT:C93268 NCIT:C3266 hereditary neoplastic syndrome +MONDO:0016474 drug-induced lupus erythematosus MONDO:0004670 NCIT:C114354 NCIT:C27153 lupus erythematosus +MONDO:0016484 Usher syndrome type 2 MONDO:0019501 NCIT:C126328 NCIT:C85217 Usher syndrome +MONDO:0016485 Usher syndrome type 3 MONDO:0019501 NCIT:C126329 NCIT:C85217 Usher syndrome MONDO:0016505 aldosterone-producing adrenal cortex adenoma MONDO:0003924 NCIT:C48451 NCIT:C9003 adrenal cortex adenoma +MONDO:0016512 Kabuki syndrome MONDO:0002254 NCIT:C124837 NCIT:C28193 syndromic disease +MONDO:0016516 Kenny-Caffey syndrome MONDO:0002254 NCIT:C130991 NCIT:C28193 syndromic disease +MONDO:0016532 Lennox-Gastaut syndrome MONDO:0002254 NCIT:C84816 NCIT:C28193 syndromic disease +MONDO:0016535 hypohidrotic ectodermal dysplasia MONDO:0019287 NCIT:C84562 NCIT:C84683 ectodermal dysplasia syndrome +MONDO:0016575 primary ciliary dyskinesia MONDO:0002254 NCIT:C84797 NCIT:C28193 syndromic disease MONDO:0016586 systemic mastocytosis MONDO:0007950 NCIT:C9235 NCIT:C84269 mastocytosis +MONDO:0016607 odontohypophosphatasia MONDO:0018570 NCIT:C131309 NCIT:C26798 hypophosphatasia MONDO:0016611 lipoblastoma MONDO:0044983 NCIT:C27483 NCIT:C4502 benign lipomatous neoplasm +MONDO:0016621 juvenile Huntington disease MONDO:0007739 NCIT:C147072 NCIT:C82342 Huntington disease MONDO:0016642 meningioma MONDO:0016743 NCIT:C3230 NCIT:C3229 tumor of meninges MONDO:0016680 high grade astrocytic tumor MONDO:0021636 NCIT:C102897 NCIT:C6958 astrocytic tumor MONDO:0016680 high grade astrocytic tumor MONDO:0100342 NCIT:C102897 NCIT:C4822 malignant glioma @@ -3072,7 +4486,12 @@ MONDO:0016743 tumor of meninges MONDO:0006130 NCIT:C3229 NCIT:C9293 central nerv MONDO:0016747 primary melanoma of the central nervous system MONDO:0003222 NCIT:C5505 NCIT:C5504 central nervous system melanocytic neoplasm MONDO:0016747 primary melanoma of the central nervous system MONDO:0006320 NCIT:C5505 NCIT:C8711 non-cutaneous melanoma MONDO:0016755 neurofibroma MONDO:0002547 NCIT:C3272 NCIT:C4972 nerve sheath neoplasm +MONDO:0016773 atrophic lichen planus MONDO:0006572 NCIT:C34777 NCIT:C3189 lichen planus +MONDO:0016778 iatrogenic botulism MONDO:0005498 NCIT:C128345 NCIT:C84599 botulism +MONDO:0016785 complete hydatidiform mole MONDO:0006248 NCIT:C4871 NCIT:C3110 hydatidiform mole +MONDO:0016786 partial hydatidiform mole MONDO:0006248 NCIT:C4293 NCIT:C3110 hydatidiform mole MONDO:0016787 epithelioid trophoblastic tumor MONDO:0018944 NCIT:C6900 NCIT:C4699 gestational trophoblastic neoplasm +MONDO:0016823 mycetoma MONDO:0005550 NCIT:C85505 NCIT:C26726 infectious disease MONDO:0016824 infantile myofibromatosis MONDO:0003342 NCIT:C3742 NCIT:C6529 benign perivascular tumor MONDO:0016974 thymoma type B MONDO:0006456 NCIT:C7114 NCIT:C3411 thymoma MONDO:0016975 thymoma type AB MONDO:0006456 NCIT:C6885 NCIT:C3411 thymoma @@ -3082,16 +4501,36 @@ MONDO:0017029 Langerhans cell histiocytosis specific to adulthood MONDO:0018310 MONDO:0017043 congenital mesoblastic nephroma MONDO:0005564 NCIT:C6569 NCIT:C3264 embryonal neoplasm MONDO:0017043 congenital mesoblastic nephroma MONDO:0036511 NCIT:C6569 NCIT:C123907 childhood malignant kidney neoplasm MONDO:0017050 intraocular medulloepithelioma MONDO:0005564 NCIT:C66806 NCIT:C3264 embryonal neoplasm +MONDO:0017078 cephalocele MONDO:0002320 NCIT:C84687 NCIT:C97172 congenital nervous system disorder +MONDO:0017079 meningoencephalocele MONDO:0001147 NCIT:C124517 NCIT:C105595 meningocele +MONDO:0017124 noma MONDO:0004848 NCIT:C34852 NCIT:C35039 ulcerative stomatitis +MONDO:0017138 Opitz G/BBB syndrome MONDO:0002254 NCIT:C125487 NCIT:C28193 syndromic disease MONDO:0017207 primary organ-specific lymphoma MONDO:0005062 NCIT:C7185 NCIT:C3208 lymphoma +MONDO:0017215 calciphylaxis MONDO:0002254 NCIT:C84607 NCIT:C28193 syndromic disease +MONDO:0017236 rapidly progressive glomerulonephritis MONDO:0002462 NCIT:C35264 NCIT:C26784 glomerulonephritis +MONDO:0017255 panuveitis MONDO:0020283 NCIT:C84989 NCIT:C26909 uveitis +MONDO:0017278 autoimmune polyendocrinopathy MONDO:0002254 NCIT:C129726 NCIT:C28193 syndromic disease MONDO:0017286 tempi syndrome MONDO:0002254 NCIT:C121656 NCIT:C28193 syndromic disease MONDO:0017292 well-differentiated fetal adenocarcinoma of the lung MONDO:0005061 NCIT:C45509 NCIT:C3512 lung adenocarcinoma MONDO:0017292 well-differentiated fetal adenocarcinoma of the lung MONDO:0005606 NCIT:C45509 NCIT:C65192 tubular adenocarcinoma +MONDO:0017314 Ehlers-Danlos syndrome, vascular type MONDO:0020066 NCIT:C125699 NCIT:C34568 Ehlers-Danlos syndrome +MONDO:0017323 hypocalcemic rickets MONDO:0005520 NCIT:C131421 NCIT:C26878 rickets MONDO:0017346 Epstein-Barr virus-positive diffuse large B-cell lymphoma of the elderly MONDO:0018905 NCIT:C80281 NCIT:C8851 diffuse large B-cell lymphoma MONDO:0017347 plasmablastic lymphoma MONDO:0018905 NCIT:C7224 NCIT:C8851 diffuse large B-cell lymphoma MONDO:0017349 myopericytoma MONDO:0002604 NCIT:C50401 NCIT:C6528 pericytic neoplasm +MONDO:0017361 congenital rubella syndrome MONDO:0004656 NCIT:C34992 NCIT:C85051 rubella +MONDO:0017372 congenital varicella syndrome MONDO:0002254 NCIT:C116800 NCIT:C28193 syndromic disease +MONDO:0017376 reactive arthritis MONDO:0005578 NCIT:C128332 NCIT:C2883 arthritic joint disease +MONDO:0017384 acute generalized exanthematous pustulosis MONDO:0002406 NCIT:C112122 NCIT:C2983 dermatitis MONDO:0017386 pleomorphic rhabdomyosarcoma MONDO:0005212 NCIT:C4258 NCIT:C3359 rhabdomyosarcoma MONDO:0017387 epithelioid sarcoma MONDO:0018078 NCIT:C3714 NCIT:C9306 soft tissue sarcoma +MONDO:0017409 fetal cytomegalovirus syndrome MONDO:0005132 NCIT:C122427 NCIT:C53649 cytomegalovirus infection +MONDO:0017435 popliteal pterygium syndrome MONDO:0002254 NCIT:C118786 NCIT:C28193 syndromic disease +MONDO:0017571 Proteus-like syndrome MONDO:0017623 NCIT:C179930 NCIT:C179915 PTEN hamartoma tumor syndrome +MONDO:0017572 tick-borne encephalitis MONDO:0006009 NCIT:C34579 NCIT:C35302 viral encephalitis +MONDO:0017576 46,XX disorder of sex development MONDO:0002145 NCIT:C127169 NCIT:C103186 disorder of sexual differentiation MONDO:0017582 pituitary adenocarcinoma MONDO:0002109 NCIT:C4536 NCIT:C4769 pituitary cancer +MONDO:0017582 pituitary adenocarcinoma MONDO:0004970 NCIT:C4536 NCIT:C2852 adenocarcinoma MONDO:0017590 carcinoma of the ampulla of vater MONDO:0000919 NCIT:C3908 NCIT:C3536 ampulla of vater cancer MONDO:0017595 aggressive B-cell non-Hodgkin lymphoma MONDO:0015759 NCIT:C178541 NCIT:C3457 B-cell non-Hodgkin lymphoma MONDO:0017596 diffuse large B-cell lymphoma of the central nervous system MONDO:0018905 NCIT:C71720 NCIT:C8851 diffuse large B-cell lymphoma @@ -3101,42 +4540,77 @@ MONDO:0017598 primary cutaneous anaplastic large cell lymphoma MONDO:0020325 NCI MONDO:0017602 ALK-positive anaplastic large cell lymphoma MONDO:0020325 NCIT:C37193 NCIT:C3720 anaplastic large cell lymphoma MONDO:0017603 ALK-negative anaplastic large cell lymphoma MONDO:0020325 NCIT:C37194 NCIT:C3720 anaplastic large cell lymphoma MONDO:0017604 marginal zone lymphoma MONDO:0017594 NCIT:C4341 NCIT:C171299 indolent B-cell non-Hodgkin lymphoma -MONDO:0017611 pituitary tumor MONDO:0002720 NCIT:C3330 NCIT:C4944 sella turcica neoplasm MONDO:0017611 pituitary tumor MONDO:0003381 NCIT:C3330 NCIT:C26854 pituitary gland disorder +MONDO:0017771 Mayer-Rokitansky-Kuster-Hauser syndrome MONDO:0002254 NCIT:C124853 NCIT:C28193 syndromic disease +MONDO:0017773 hypoalphalipoproteinemia MONDO:0005066 NCIT:C84774 NCIT:C3235 metabolic disease MONDO:0017795 ameloblastoma MONDO:0021192 NCIT:C4313 NCIT:C3286 odontogenic neoplasm +MONDO:0017799 Meigs syndrome MONDO:0021058 NCIT:C3223 NCIT:C54705 neoplastic syndrome +MONDO:0017807 growing teratoma syndrome MONDO:0021058 NCIT:C118370 NCIT:C54705 neoplastic syndrome MONDO:0017814 primary bone lymphoma MONDO:0002129 NCIT:C6620 NCIT:C4016 bone cancer MONDO:0017814 primary bone lymphoma MONDO:0017207 NCIT:C6620 NCIT:C7185 primary organ-specific lymphoma MONDO:0017827 malignant peripheral nerve sheath tumor MONDO:0002547 NCIT:C3798 NCIT:C4972 nerve sheath neoplasm MONDO:0017827 malignant peripheral nerve sheath tumor MONDO:0021089 NCIT:C3798 NCIT:C4961 peripheral nervous system cancer MONDO:0017858 acute erythroid leukemia MONDO:0015667 NCIT:C8923 NCIT:C27753 acute myeloid leukemia by FAB classification MONDO:0017858 acute erythroid leukemia MONDO:0020703 NCIT:C8923 NCIT:C7064 erythroid neoplasm +MONDO:0017879 hantavirus pulmonary syndrome MONDO:0002254 NCIT:C84747 NCIT:C28193 syndromic disease +MONDO:0017879 hantavirus pulmonary syndrome MONDO:0005780 NCIT:C84747 NCIT:C3899 hantavirus infectious disease +MONDO:0017880 Rift valley fever MONDO:0018087 NCIT:C128419 NCIT:C36170 viral hemorrhagic fever MONDO:0017884 papillary renal cell carcinoma MONDO:0002512 NCIT:C6975 NCIT:C2853 papillary adenocarcinoma MONDO:0017884 papillary renal cell carcinoma MONDO:0005549 NCIT:C6975 NCIT:C9385 renal cell adenocarcinoma MONDO:0017885 chromophobe renal cell carcinoma MONDO:0005549 NCIT:C4146 NCIT:C9385 renal cell adenocarcinoma MONDO:0017887 renal cell carcinoma associated with neuroblastoma MONDO:0005549 NCIT:C100051 NCIT:C9385 renal cell adenocarcinoma MONDO:0017890 tubulocystic renal cell carcinoma MONDO:0005549 NCIT:C126303 NCIT:C9385 renal cell adenocarcinoma MONDO:0017895 familial papillary or follicular thyroid carcinoma MONDO:0015447 NCIT:C118829 NCIT:C7153 differentiated thyroid carcinoma +MONDO:0017979 autoimmune lymphoproliferative syndrome MONDO:0021058 NCIT:C37864 NCIT:C54705 neoplastic syndrome +MONDO:0017987 syringomyelia MONDO:0002545 NCIT:C85179 NCIT:C97110 spinal cord disorder +MONDO:0017991 Takayasu arteritis MONDO:0002254 NCIT:C34391 NCIT:C28193 syndromic disease +MONDO:0017991 Takayasu arteritis MONDO:0043494 NCIT:C35062 NCIT:C34399 arteritis +MONDO:0018017 goblet cell carcinoma MONDO:0021659 NCIT:C3689 NCIT:C4139 combined carcinoid and adenocarcinoma +MONDO:0018024 hydroa vacciniforme MONDO:0002406 NCIT:C84766 NCIT:C2983 dermatitis MONDO:0018031 granulomatous slack skin disease MONDO:0045071 NCIT:C35464 NCIT:C39644 mycosis fungoides variant +MONDO:0018034 thalidomide embryopathy MONDO:0002254 NCIT:C99082 NCIT:C28193 syndromic disease +MONDO:0018037 hyper-IgE syndrome MONDO:0002468 NCIT:C3144 NCIT:C27579 hyperimmunoglobulin syndrome +MONDO:0018044 idiopathic hypersomnia MONDO:0005466 NCIT:C116343 NCIT:C78346 hypersomnia MONDO:0018055 pediatric hepatocellular carcinoma MONDO:0007256 NCIT:C7955 NCIT:C3099 hepatocellular carcinoma +MONDO:0018056 bullous lichen planus MONDO:0006572 NCIT:C34778 NCIT:C3189 lichen planus +MONDO:0018066 trisomy X MONDO:0002254 NCIT:C129718 NCIT:C28193 syndromic disease +MONDO:0018068 trisomy 13 MONDO:0002254 NCIT:C101223 NCIT:C28193 syndromic disease +MONDO:0018072 persistent truncus arteriosus MONDO:0005453 NCIT:C98880 NCIT:C95834 congenital heart disease +MONDO:0018076 tuberculosis MONDO:0020590 NCIT:C3423 NCIT:C26831 mycobacterial infectious disease MONDO:0018078 soft tissue sarcoma MONDO:0005089 NCIT:C9306 NCIT:C9118 sarcoma MONDO:0018078 soft tissue sarcoma MONDO:0024637 NCIT:C9306 NCIT:C4867 malignant soft tissue neoplasm MONDO:0018079 thymic epithelial neoplasm MONDO:0005197 NCIT:C6450 NCIT:C3412 thymus neoplasm MONDO:0018079 thymic epithelial neoplasm MONDO:0005626 NCIT:C6450 NCIT:C3709 epithelial neoplasm +MONDO:0018087 viral hemorrhagic fever MONDO:0005108 NCIT:C36170 NCIT:C3439 viral infectious disease +MONDO:0018094 Waardenburg syndrome MONDO:0002254 NCIT:C85222 NCIT:C28193 syndromic disease +MONDO:0018096 Weill-Marchesani syndrome MONDO:0002254 NCIT:C85226 NCIT:C28193 syndromic disease +MONDO:0018097 West syndrome MONDO:0002254 NCIT:C84788 NCIT:C28193 syndromic disease +MONDO:0018105 Wolfram syndrome MONDO:0002254 NCIT:C35133 NCIT:C28193 syndromic disease +MONDO:0018124 Oncogenic osteomalacia MONDO:0001068 NCIT:C67235 NCIT:C26838 osteomalacia +MONDO:0018124 Oncogenic osteomalacia MONDO:0021073 NCIT:C67235 NCIT:C3311 paraneoplastic syndrome +MONDO:0018150 Gaucher disease MONDO:0019255 NCIT:C61268 NCIT:C117254 sphingolipidosis MONDO:0018160 hereditary retinoblastoma MONDO:0008380 NCIT:C8495 NCIT:C7541 retinoblastoma +MONDO:0018170 idiopathic nephrotic syndrome MONDO:0005377 NCIT:C122796 NCIT:C34845 nephrotic syndrome MONDO:0018171 malignant germ cell tumor of ovary MONDO:0006290 NCIT:C4514 NCIT:C4925 malignant germ cell tumor MONDO:0018171 malignant germ cell tumor of ovary MONDO:0011366 NCIT:C4514 NCIT:C3873 ovarian germ cell tumor MONDO:0018172 malignant sex cord stromal tumor of ovary MONDO:0021657 NCIT:C8053 NCIT:C4862 ovarian sex cord-stromal tumor MONDO:0018177 glioblastoma MONDO:0016680 NCIT:C3058 NCIT:C102897 high grade astrocytic tumor MONDO:0018201 extragonadal germ cell tumor MONDO:0005040 NCIT:C3918 NCIT:C3708 germ cell tumor +MONDO:0018221 immune hydrops fetalis MONDO:0015193 NCIT:C111904 NCIT:C84767 hydrops fetalis MONDO:0018223 systemic Epstein-Barr virus-positive T-cell lymphoproliferative disease of childhood MONDO:0006188 NCIT:C80374 NCIT:C80373 EBV-positive T-cell lymphoproliferative disorder of childhood MONDO:0018224 hydroa vacciniforme-like lymphoma MONDO:0006188 NCIT:C45327 NCIT:C80373 EBV-positive T-cell lymphoproliferative disorder of childhood MONDO:0018225 ALK-positive large B-cell lymphoma MONDO:0018905 NCIT:C7225 NCIT:C8851 diffuse large B-cell lymphoma +MONDO:0018229 Stevens-Johnson syndrome MONDO:0002254 NCIT:C79484 NCIT:C28193 syndromic disease +MONDO:0018237 acrofacial dysostosis MONDO:0018234 NCIT:C35795 NCIT:C34560 dysostosis MONDO:0018270 extraskeletal Ewing sarcoma MONDO:0012817 NCIT:C7135 NCIT:C4817 Ewing sarcoma MONDO:0018270 extraskeletal Ewing sarcoma MONDO:0018078 NCIT:C7135 NCIT:C9306 soft tissue sarcoma MONDO:0018270 extraskeletal Ewing sarcoma MONDO:0021039 NCIT:C7135 NCIT:C27293 extraskeletal Ewing sarcoma/peripheral primitive neuroectodermal tumor MONDO:0018271 peripheral primitive neuroectodermal tumor MONDO:0005462 NCIT:C9341 NCIT:C3716 primitive neuroectodermal tumor MONDO:0018271 peripheral primitive neuroectodermal tumor MONDO:0021038 NCIT:C9341 NCIT:C27291 Ewing sarcoma/peripheral primitive neuroectodermal tumor MONDO:0018271 peripheral primitive neuroectodermal tumor MONDO:0021089 NCIT:C9341 NCIT:C4961 peripheral nervous system cancer +MONDO:0018301 interstitial cystitis MONDO:0006030 NCIT:C27189 NCIT:C27008 chronic cystitis +MONDO:0018308 liver mesenchymal hamartoma MONDO:0024478 NCIT:C5751 NCIT:C40427 mesenchymal hamartoma +MONDO:0018326 transient neonatal myasthenia gravis MONDO:0009688 NCIT:C117308 NCIT:C60989 myasthenia gravis MONDO:0018327 glomus tumor MONDO:0002604 NCIT:C3060 NCIT:C6528 pericytic neoplasm MONDO:0018330 mucinous adenocarcinoma of the appendix MONDO:0006087 NCIT:C43558 NCIT:C7718 appendix adenocarcinoma MONDO:0018352 squamous cell carcinoma of penis MONDO:0005096 NCIT:C7729 NCIT:C2929 squamous cell carcinoma @@ -3145,8 +4619,11 @@ MONDO:0018364 malignant epithelial tumor of ovary MONDO:0002229 NCIT:C40026 NCIT MONDO:0018364 malignant epithelial tumor of ovary MONDO:0008170 NCIT:C40026 NCIT:C7431 ovarian cancer MONDO:0018368 primary peritoneal serous/papillary carcinoma MONDO:0006386 NCIT:C7695 NCIT:C40023 primary peritoneal serous adenocarcinoma MONDO:0018369 immature ovarian teratoma MONDO:0003821 NCIT:C8111 NCIT:C39992 ovarian biphasic or triphasic teratoma +MONDO:0018373 avascular necrosis MONDO:0005380 NCIT:C34841 NCIT:C34880 osteonecrosis +MONDO:0018439 eosinophilic colitis MONDO:0000702 NCIT:C27053 NCIT:C38504 microscopic colitis MONDO:0018447 chondromyxoid fibroma MONDO:0000631 NCIT:C3830 NCIT:C4880 bone benign neoplasm MONDO:0018447 chondromyxoid fibroma MONDO:0024470 NCIT:C3830 NCIT:C8592 benign chondrogenic neoplasm +MONDO:0018453 familial atypical multiple mole melanoma syndrome MONDO:0015356 NCIT:C27264 NCIT:C3266 hereditary neoplastic syndrome MONDO:0018481 undifferentiated carcinoma of esophagus MONDO:0005617 NCIT:C27422 NCIT:C3692 undifferentiated carcinoma MONDO:0018492 hereditary clear cell renal cell carcinoma MONDO:0003008 NCIT:C36260 NCIT:C39789 hereditary renal cell carcinoma MONDO:0018492 hereditary clear cell renal cell carcinoma MONDO:0005005 NCIT:C36260 NCIT:C4033 clear cell renal carcinoma @@ -3162,48 +4639,138 @@ MONDO:0018515 squamous cell carcinoma of rectum MONDO:0006165 NCIT:C5554 NCIT:C4 MONDO:0018515 squamous cell carcinoma of rectum MONDO:0044937 NCIT:C5554 NCIT:C9382 rectal carcinoma MONDO:0018531 carcinoma of liver and intrahepatic biliary tract MONDO:0002691 NCIT:C7927 NCIT:C34803 liver cancer MONDO:0018531 carcinoma of liver and intrahepatic biliary tract MONDO:0006181 NCIT:C7927 NCIT:C96963 digestive system carcinoma +MONDO:0018542 severe congenital neutropenia MONDO:0015134 NCIT:C166152 NCIT:C61242 constitutional neutropenia +MONDO:0018544 adrenoleukodystrophy MONDO:0019046 NCIT:C61252 NCIT:C61253 leukodystrophy +MONDO:0018555 hypogonadotropic hypogonadism MONDO:0002146 NCIT:C113347 NCIT:C9227 hypogonadism +MONDO:0018604 familial colorectal cancer type X MONDO:0018630 NCIT:C120084 NCIT:C120083 hereditary nonpolyposis colon cancer +MONDO:0018612 congenital hypothyroidism MONDO:0005420 NCIT:C26734 NCIT:C26800 hypothyroidism +MONDO:0018616 central serous chorioretinopathy MONDO:0005283 NCIT:C115124 NCIT:C62601 retinal disorder +MONDO:0018634 hereditary amyloidosis MONDO:0019065 NCIT:C84555 NCIT:C2868 amyloidosis +MONDO:0018646 sclerosing cholangitis MONDO:0004789 NCIT:C4828 NCIT:C26718 cholangitis +MONDO:0018660 hemophilia MONDO:0002242 NCIT:C3093 NCIT:C27215 coagulation protein disease MONDO:0018666 hepatoblastoma MONDO:0005564 NCIT:C3728 NCIT:C3264 embryonal neoplasm +MONDO:0018677 visceral heterotaxy MONDO:0002254 NCIT:C117273 NCIT:C28193 syndromic disease +MONDO:0018683 acquired ichthyosis MONDO:0019269 NCIT:C112831 NCIT:C84776 ichthyosis +MONDO:0018687 progressive muscular atrophy MONDO:0004976 NCIT:C85027 NCIT:C34373 amyotrophic lateral sclerosis MONDO:0018689 plasma cell leukemia MONDO:0004959 NCIT:C3180 NCIT:C4665 plasma cell neoplasm +MONDO:0018690 Holmes-Adie syndrome MONDO:0002254 NCIT:C34357 NCIT:C28193 syndromic disease MONDO:0018712 composite hemangioendothelioma MONDO:0021121 NCIT:C45475 NCIT:C3084 hemangioendothelioma MONDO:0018713 retiform hemangioendothelioma MONDO:0021121 NCIT:C27511 NCIT:C3084 hemangioendothelioma MONDO:0018714 primary intralymphatic angioendothelioma MONDO:0021121 NCIT:C7526 NCIT:C3084 hemangioendothelioma MONDO:0018715 congenital hemangioma MONDO:0006500 NCIT:C3841 NCIT:C3085 hemangioma MONDO:0018716 partially involuting congenital hemangioma MONDO:0018715 NCIT:C172209 NCIT:C3841 congenital hemangioma MONDO:0018734 verrucous hemangioma MONDO:0003110 NCIT:C4299 NCIT:C4905 skin hemangioma +MONDO:0018747 acquired epidermolysis bullosa MONDO:0006541 NCIT:C84690 NCIT:C67383 epidermolysis bullosa +MONDO:0018772 Joubert syndrome MONDO:0002254 NCIT:C74996 NCIT:C28193 syndromic disease +MONDO:0018800 Kallmann syndrome MONDO:0018555 NCIT:C75479 NCIT:C113347 hypogonadotropic hypogonadism MONDO:0018842 primary effusion lymphoma MONDO:0018905 NCIT:C6915 NCIT:C8851 diffuse large B-cell lymphoma MONDO:0018843 embryonal carcinoma of the central nervous system MONDO:0020574 NCIT:C7010 NCIT:C100093 central nervous system nongerminomatous germ cell tumor +MONDO:0018864 Kikuchi-Fujimoto disease MONDO:0002052 NCIT:C71719 NCIT:C26821 lymphadenitis +MONDO:0018868 metachromatic leukodystrophy MONDO:0019046 NCIT:C61251 NCIT:C61253 leukodystrophy +MONDO:0018868 metachromatic leukodystrophy MONDO:0019255 NCIT:C61251 NCIT:C117254 sphingolipidosis MONDO:0018871 acute myelomonocytic leukemia M4 MONDO:0015667 NCIT:C7463 NCIT:C27753 acute myeloid leukemia by FAB classification MONDO:0018872 acute megakaryoblastic leukemia MONDO:0015667 NCIT:C3170 NCIT:C27753 acute myeloid leukemia by FAB classification MONDO:0018874 acute myeloid leukemia MONDO:0004643 NCIT:C3171 NCIT:C3172 myeloid leukemia MONDO:0018874 acute myeloid leukemia MONDO:0010643 NCIT:C3171 NCIT:C9300 acute leukemia +MONDO:0018875 Li-Fraumeni syndrome MONDO:0015356 NCIT:C3476 NCIT:C3266 hereditary neoplastic syndrome +MONDO:0018876 mantle cell lymphoma MONDO:0017595 NCIT:C4337 NCIT:C178541 aggressive B-cell non-Hodgkin lymphoma MONDO:0018881 myelodysplastic syndrome MONDO:0021058 NCIT:C3247 NCIT:C54705 neoplastic syndrome +MONDO:0018882 vasculitis MONDO:0005385 NCIT:C26912 NCIT:C35117 vascular disorder +MONDO:0018893 Cobb syndrome MONDO:0015356 NCIT:C4485 NCIT:C3266 hereditary neoplastic syndrome +MONDO:0018895 Plummer-Vinson syndrome MONDO:0002254 NCIT:C85016 NCIT:C28193 syndromic disease +MONDO:0018896 thrombotic thrombocytopenic purpura MONDO:0043768 NCIT:C78797 NCIT:C26870 thrombocytopenic purpura +MONDO:0018901 left ventricular noncompaction MONDO:0002254 NCIT:C99544 NCIT:C28193 syndromic disease +MONDO:0018901 left ventricular noncompaction MONDO:0005453 NCIT:C99544 NCIT:C95834 congenital heart disease MONDO:0018907 craniopharyngioma MONDO:0002720 NCIT:C2964 NCIT:C4944 sella turcica neoplasm MONDO:0018908 non-Hodgkin lymphoma MONDO:0005062 NCIT:C3211 NCIT:C3208 lymphoma +MONDO:0018921 Meckel syndrome MONDO:0002254 NCIT:C98978 NCIT:C28193 syndromic disease +MONDO:0018927 SUNCT syndrome MONDO:0002254 NCIT:C85174 NCIT:C28193 syndromic disease MONDO:0018936 osteoblastoma MONDO:0000631 NCIT:C3294 NCIT:C4880 bone benign neoplasm +MONDO:0018937 mucopolysaccharidosis type 3 MONDO:0002254 NCIT:C61262 NCIT:C28193 syndromic disease +MONDO:0018937 mucopolysaccharidosis type 3 MONDO:0019249 NCIT:C61262 NCIT:C61259 mucopolysaccharidosis +MONDO:0018938 mucopolysaccharidosis type 4 MONDO:0002254 NCIT:C61263 NCIT:C28193 syndromic disease +MONDO:0018938 mucopolysaccharidosis type 4 MONDO:0019249 NCIT:C61263 NCIT:C61259 mucopolysaccharidosis +MONDO:0018940 congenital myasthenic syndrome MONDO:0002254 NCIT:C84647 NCIT:C28193 syndromic disease MONDO:0018944 gestational trophoblastic neoplasm MONDO:0002872 NCIT:C4699 NCIT:C3422 trophoblastic neoplasm MONDO:0018944 gestational trophoblastic neoplasm MONDO:0021148 NCIT:C4699 NCIT:C3053 female reproductive system neoplasm +MONDO:0018949 distal myopathy MONDO:0020121 NCIT:C84675 NCIT:C84910 muscular dystrophy +MONDO:0018954 Loeys-Dietz syndrome MONDO:0002254 NCIT:C75006 NCIT:C28193 syndromic disease MONDO:0018955 recurrent respiratory papillomatosis MONDO:0021098 NCIT:C128637 NCIT:C3713 papillomatosis +MONDO:0018963 hereditary methemoglobinemia MONDO:0001117 NCIT:C98898 NCIT:C34817 methemoglobinemia +MONDO:0018965 Alport syndrome MONDO:0002254 NCIT:C34842 NCIT:C28193 syndromic disease +MONDO:0018968 iniencephaly MONDO:0018075 NCIT:C124549 NCIT:C84923 neural tube defect +MONDO:0018969 craniorachischisis MONDO:0002320 NCIT:C98907 NCIT:C97172 congenital nervous system disorder +MONDO:0018975 neurofibromatosis type 1 MONDO:0021060 NCIT:C3273 NCIT:C179667 RASopathy +MONDO:0018975 neurofibromatosis type 1 MONDO:0021061 NCIT:C3273 NCIT:C6727 neurofibromatosis +MONDO:0018983 Tolosa-Hunt syndrome MONDO:0002254 NCIT:C85193 NCIT:C28193 syndromic disease +MONDO:0018984 Oroya fever MONDO:0005664 NCIT:C128441 NCIT:C84586 bartonellosis +MONDO:0018988 iridocorneal endothelial syndrome MONDO:0002254 NCIT:C84792 NCIT:C28193 syndromic disease MONDO:0019003 multiple endocrine neoplasia type 2 MONDO:0017169 NCIT:C123329 NCIT:C6432 multiple endocrine neoplasia MONDO:0019004 kidney Wilms tumor MONDO:0002367 NCIT:C40407 NCIT:C7548 kidney cancer MONDO:0019004 kidney Wilms tumor MONDO:0006058 NCIT:C40407 NCIT:C3267 Wilms tumor +MONDO:0019010 congenital isolated hyperinsulinism MONDO:0007834 NCIT:C122923 NCIT:C4375 islet cell adenomatosis +MONDO:0019018 Tako-tsubo cardiomyopathy MONDO:0004994 NCIT:C85181 NCIT:C34830 cardiomyopathy MONDO:0019023 cutaneous mastocytosis MONDO:0007950 NCIT:C7137 NCIT:C84269 mastocytosis MONDO:0019025 extracutaneous mastocytoma MONDO:0003079 NCIT:C7136 NCIT:C9303 mastocytoma +MONDO:0019026 autosomal recessive osteopetrosis MONDO:0017198 NCIT:C129733 NCIT:C26840 osteopetrosis MONDO:0019035 pancreatoblastoma MONDO:0002116 NCIT:C4265 NCIT:C7430 malignant exocrine pancreas neoplasm +MONDO:0019037 progressive supranuclear palsy MONDO:0002254 NCIT:C85028 NCIT:C28193 syndromic disease +MONDO:0019037 progressive supranuclear palsy MONDO:0005559 NCIT:C85028 NCIT:C4802 neurodegenerative disease +MONDO:0019052 inborn errors of metabolism MONDO:0005066 NCIT:C34816 NCIT:C3235 metabolic disease +MONDO:0019053 peroxisomal disease MONDO:0019052 NCIT:C85005 NCIT:C34816 inborn errors of metabolism MONDO:0019077 warty dyskeratoma MONDO:0002093 NCIT:C4087 NCIT:C7419 acanthoma MONDO:0019086 carcinoma of esophagus MONDO:0006181 NCIT:C3513 NCIT:C96963 digestive system carcinoma MONDO:0019086 carcinoma of esophagus MONDO:0007576 NCIT:C3513 NCIT:C7478 esophageal cancer +MONDO:0019104 Sandifer syndrome MONDO:0002254 NCIT:C113397 NCIT:C28193 syndromic disease +MONDO:0019121 pneumocystosis MONDO:0005249 NCIT:C3334 NCIT:C3333 pneumonia +MONDO:0019124 microscopic polyangiitis MONDO:0043494 NCIT:C70549 NCIT:C34399 arteritis MONDO:0019134 central neurocytoma MONDO:0002682 NCIT:C3791 NCIT:C2937 cerebral ventricle cancer MONDO:0019134 central neurocytoma MONDO:0016729 NCIT:C3791 NCIT:C4747 mixed neuronal-glial tumor +MONDO:0019157 myelodysplastic syndrome with ring sideroblasts MONDO:0018881 NCIT:C4036 NCIT:C3247 myelodysplastic syndrome +MONDO:0019170 polyarteritis nodosa MONDO:0043494 NCIT:C26847 NCIT:C34399 arteritis +MONDO:0019173 rabies MONDO:0005108 NCIT:C28182 NCIT:C3439 viral infectious disease +MONDO:0019175 primary lymphedema MONDO:0019297 NCIT:C48829 NCIT:C3207 lymphedema +MONDO:0019180 hereditary hemorrhagic telangiectasia MONDO:0001576 NCIT:C35064 NCIT:C28194 telangiectasis +MONDO:0019187 Axenfeld-Rieger syndrome MONDO:0002254 NCIT:C131001 NCIT:C28193 syndromic disease +MONDO:0019193 acquired generalized lipodystrophy MONDO:0027766 NCIT:C131089 NCIT:C131815 generalized lipodystrophy +MONDO:0019194 localized lipodystrophy MONDO:0006573 NCIT:C131814 NCIT:C97093 lipodystrophy +MONDO:0019203 acute interstitial pneumonia MONDO:0002429 NCIT:C35806 NCIT:C35714 idiopathic interstitial pneumonia +MONDO:0019209 Japanese encephalitis MONDO:0020601 NCIT:C34577 NCIT:C34823 mosquito-borne viral encephalitis MONDO:0019210 cutaneous neuroendocrine carcinoma MONDO:0002656 NCIT:C9231 NCIT:C4914 skin carcinoma MONDO:0019210 cutaneous neuroendocrine carcinoma MONDO:0003363 NCIT:C9231 NCIT:C4574 malignant dermis tumor +MONDO:0019234 peroxisome biogenesis disorder MONDO:0019046 NCIT:C155747 NCIT:C61253 leukodystrophy +MONDO:0019249 mucopolysaccharidosis MONDO:0002561 NCIT:C61259 NCIT:C61250 lysosomal storage disease +MONDO:0019249 mucopolysaccharidosis MONDO:0019214 NCIT:C61259 NCIT:C97089 inborn carbohydrate metabolic disorder +MONDO:0019287 ectodermal dysplasia syndrome MONDO:0002254 NCIT:C84683 NCIT:C28193 syndromic disease +MONDO:0019293 skin vascular disease MONDO:0005093 NCIT:C35254 NCIT:C3371 skin disorder +MONDO:0019293 skin vascular disease MONDO:0005385 NCIT:C35254 NCIT:C35117 vascular disorder MONDO:0019328 macrocystic lymphatic malformation MONDO:0002013 NCIT:C53316 NCIT:C8965 lymphangioma +MONDO:0019336 Gardner syndrome MONDO:0021055 NCIT:C6728 NCIT:C3339 classic familial adenomatous polyposis +MONDO:0019340 scleroderma MONDO:0005554 NCIT:C26746 NCIT:C27204 rheumatic disorder +MONDO:0019340 scleroderma MONDO:0007179 NCIT:C26746 NCIT:C2889 autoimmune disease +MONDO:0019342 Seckel syndrome MONDO:0002254 NCIT:C125488 NCIT:C28193 syndromic disease +MONDO:0019349 Sotos syndrome MONDO:0002254 NCIT:C75019 NCIT:C28193 syndromic disease +MONDO:0019354 Stickler syndrome MONDO:0002254 NCIT:C74984 NCIT:C28193 syndromic disease MONDO:0019373 desmoplastic small round cell tumor MONDO:0006974 NCIT:C8300 NCIT:C3746 small cell sarcoma MONDO:0019373 desmoplastic small round cell tumor MONDO:0018078 NCIT:C8300 NCIT:C9306 soft tissue sarcoma +MONDO:0019384 encephalitis lethargica MONDO:0006009 NCIT:C26761 NCIT:C35302 viral encephalitis +MONDO:0019384 encephalitis lethargica MONDO:0006009 NCIT:C34576 NCIT:C35302 viral encephalitis +MONDO:0019390 Susac syndrome MONDO:0002254 NCIT:C116363 NCIT:C28193 syndromic disease +MONDO:0019390 Susac syndrome MONDO:0007179 NCIT:C116363 NCIT:C2889 autoimmune disease +MONDO:0019391 Fanconi anemia MONDO:0021190 NCIT:C62505 NCIT:C7757 DNA repair disease MONDO:0019392 syringocystadenoma papilliferum MONDO:0021110 NCIT:C4172 NCIT:C7560 sweat gland adenoma +MONDO:0019402 beta thalassemia MONDO:0000984 NCIT:C34375 NCIT:C35069 thalassemia MONDO:0019404 perineurioma MONDO:0002547 NCIT:C4973 NCIT:C4972 nerve sheath neoplasm +MONDO:0019409 idiopathic juvenile osteoporosis MONDO:0005298 NCIT:C119996 NCIT:C3298 osteoporosis +MONDO:0019433 oligoarticular juvenile idiopathic arthritis MONDO:0011429 NCIT:C119032 NCIT:C114357 juvenile idiopathic arthritis +MONDO:0019434 systemic-onset juvenile idiopathic arthritis MONDO:0011429 NCIT:C119031 NCIT:C114357 juvenile idiopathic arthritis +MONDO:0019436 psoriasis-related juvenile idiopathic arthritis MONDO:0011849 NCIT:C114361 NCIT:C61277 psoriatic arthritis +MONDO:0019437 enthesitis-related juvenile idiopathic arthritis MONDO:0011429 NCIT:C119024 NCIT:C114357 juvenile idiopathic arthritis +MONDO:0019439 AA amyloidosis MONDO:0019065 NCIT:C3818 NCIT:C2868 amyloidosis MONDO:0019451 chronic neutrophilic leukemia MONDO:0001014 NCIT:C3179 NCIT:C3483 chronic leukemia MONDO:0019451 chronic neutrophilic leukemia MONDO:0020076 NCIT:C3179 NCIT:C4345 myeloproliferative neoplasm MONDO:0019452 myeloproliferative neoplasm, unclassifiable MONDO:0020076 NCIT:C27350 NCIT:C4345 myeloproliferative neoplasm +MONDO:0019453 myelodysplastic syndrome with multilineage dysplasia MONDO:0018881 NCIT:C8574 NCIT:C3247 myelodysplastic syndrome MONDO:0019454 myelodysplastic syndrome with excess blasts MONDO:0018881 NCIT:C7506 NCIT:C3247 myelodysplastic syndrome MONDO:0019455 acute panmyelosis with myelofibrosis MONDO:0015667 NCIT:C4344 NCIT:C27753 acute myeloid leukemia by FAB classification MONDO:0019457 therapy related acute myeloid leukemia and myelodysplastic syndrome MONDO:0018874 NCIT:C25765 NCIT:C3171 acute myeloid leukemia @@ -3212,6 +4779,8 @@ MONDO:0019461 B-cell prolymphocytic leukemia MONDO:0001023 NCIT:C4753 NCIT:C3181 MONDO:0019461 B-cell prolymphocytic leukemia MONDO:0004949 NCIT:C4753 NCIT:C27910 neoplasm of mature B-cells MONDO:0019462 splenic marginal zone lymphoma MONDO:0017604 NCIT:C4663 NCIT:C4341 marginal zone lymphoma MONDO:0019465 nodal marginal zone B-cell lymphoma MONDO:0017604 NCIT:C8863 NCIT:C4341 marginal zone lymphoma +MONDO:0019467 CD4+/CD56+ hematodermic neoplasm MONDO:0002898 NCIT:C7203 NCIT:C2920 skin cancer +MONDO:0019467 CD4+/CD56+ hematodermic neoplasm MONDO:0005170 NCIT:C7203 NCIT:C9290 myeloid neoplasm MONDO:0019468 T-cell prolymphocytic leukemia MONDO:0001023 NCIT:C4752 NCIT:C3181 prolymphocytic leukemia MONDO:0019469 T-cell large granular lymphocyte leukemia MONDO:0001014 NCIT:C4664 NCIT:C3483 chronic leukemia MONDO:0019469 T-cell large granular lymphocyte leukemia MONDO:0005402 NCIT:C4664 NCIT:C7539 lymphoid leukemia @@ -3219,18 +4788,69 @@ MONDO:0019470 aggressive NK-cell leukemia MONDO:0001014 NCIT:C8647 NCIT:C3483 ch MONDO:0019478 adult nodular lymphocyte predominant Hodgkin lymphoma MONDO:0044778 NCIT:C7942 NCIT:C7258 nodular lymphocyte predominant Hodgkin lymphoma MONDO:0019479 histiocytic sarcoma MONDO:0006247 NCIT:C27349 NCIT:C9294 histiocytic and dendritic cell neoplasm MONDO:0019496 neuroendocrine neoplasm MONDO:0002082 NCIT:C3809 NCIT:C3010 endocrine gland neoplasm +MONDO:0019499 Turner syndrome MONDO:0001967 NCIT:C26900 NCIT:C61420 gonadal dysgenesis +MONDO:0019501 Usher syndrome MONDO:0002254 NCIT:C85217 NCIT:C28193 syndromic disease +MONDO:0019508 van der Woude syndrome MONDO:0002254 NCIT:C74986 NCIT:C28193 syndromic disease +MONDO:0019514 hepatic veno-occlusive disease MONDO:0002405 NCIT:C26793 NCIT:C35442 hepatic vascular disorder +MONDO:0019517 Waardenburg syndrome type 2 MONDO:0018094 NCIT:C75009 NCIT:C85222 Waardenburg syndrome +MONDO:0019518 Waardenburg-Shah syndrome MONDO:0018094 NCIT:C124842 NCIT:C85222 Waardenburg syndrome +MONDO:0019527 undifferentiated connective tissue syndrome MONDO:0007179 NCIT:C116776 NCIT:C2889 autoimmune disease +MONDO:0019532 autoimmune hemolytic anemia, warm type MONDO:0020108 NCIT:C162611 NCIT:C34378 autoimmune hemolytic anemia +MONDO:0019537 hemoglobin D disease MONDO:0019050 NCIT:C35344 NCIT:C3092 inherited hemoglobinopathy +MONDO:0019542 acute liver failure MONDO:0100192 NCIT:C84396 NCIT:C26922 liver failure +MONDO:0019562 localized scleroderma MONDO:0019340 NCIT:C72069 NCIT:C26746 scleroderma +MONDO:0019563 CREST syndrome MONDO:0002254 NCIT:C70646 NCIT:C28193 syndromic disease +MONDO:0019569 Cockayne syndrome type 1 MONDO:0016006 NCIT:C135725 NCIT:C9460 Cockayne syndrome +MONDO:0019570 Cockayne syndrome type 2 MONDO:0016006 NCIT:C135726 NCIT:C9460 Cockayne syndrome +MONDO:0019600 xeroderma pigmentosum MONDO:0021190 NCIT:C3452 NCIT:C7757 DNA repair disease +MONDO:0019609 Zellweger spectrum disorders MONDO:0019234 NCIT:C85239 NCIT:C146639 peroxisome biogenesis disorder MONDO:0019613 non-functioning pituitary adenoma MONDO:0006373 NCIT:C4348 NCIT:C3329 pituitary gland adenoma +MONDO:0019618 Sheehan syndrome MONDO:0002254 NCIT:C35300 NCIT:C28193 syndromic disease +MONDO:0019622 non-specific interstitial pneumonia MONDO:0002429 NCIT:C35717 NCIT:C35714 idiopathic interstitial pneumonia +MONDO:0019636 renal agenesis, unilateral MONDO:0018470 NCIT:C101220 NCIT:C99041 renal agenesis MONDO:0019665 monostotic fibrous dysplasia MONDO:0000845 NCIT:C53971 NCIT:C34609 fibrous dysplasia +MONDO:0019734 juvenile polymyositis MONDO:0019127 NCIT:C114358 NCIT:C26925 polymyositis +MONDO:0019735 polymyalgia rheumatica MONDO:0002254 NCIT:C85018 NCIT:C28193 syndromic disease +MONDO:0019735 polymyalgia rheumatica MONDO:0005554 NCIT:C85018 NCIT:C27204 rheumatic disorder +MONDO:0019737 thrombotic microangiopathy MONDO:0001531 NCIT:C62605 NCIT:C2902 blood coagulation disease +MONDO:0019740 acquired thrombotic thrombocytopenic purpura MONDO:0018896 NCIT:C131653 NCIT:C78797 thrombotic thrombocytopenic purpura +MONDO:0019751 autoinflammatory syndrome MONDO:0002254 NCIT:C119050 NCIT:C28193 syndromic disease +MONDO:0019753 localized Castleman disease MONDO:0015564 NCIT:C115200 NCIT:C3056 Castleman disease +MONDO:0019754 multicentric Castleman disease MONDO:0015564 NCIT:C27855 NCIT:C3056 Castleman disease MONDO:0019781 astrocytoma (excluding glioblastoma) MONDO:0021636 NCIT:C60781 NCIT:C6958 astrocytic tumor +MONDO:0019787 autoimmune enteropathy MONDO:0020598 NCIT:C94694 NCIT:C3214 malabsorption syndrome +MONDO:0019790 neuroleptic malignant syndrome MONDO:0002254 NCIT:C94829 NCIT:C28193 syndromic disease MONDO:0019803 angioma serpiginosum MONDO:0003110 NCIT:C3926 NCIT:C4905 skin hemangioma +MONDO:0019808 aortic valve atresia MONDO:0005453 NCIT:C98818 NCIT:C95834 congenital heart disease +MONDO:0019809 congenital aortic valve insufficiency MONDO:0005648 NCIT:C103936 NCIT:C51223 aortic valve insufficiency +MONDO:0019828 pituitary stalk interruption syndrome MONDO:0002254 NCIT:C121150 NCIT:C28193 syndromic disease +MONDO:0019928 48,XXXY syndrome MONDO:0002254 NCIT:C89799 NCIT:C28193 syndromic disease +MONDO:0019929 49,XXXXY syndrome MONDO:0002254 NCIT:C185635 NCIT:C28193 syndromic disease +MONDO:0019944 Eisenmenger syndrome MONDO:0002254 NCIT:C84390 NCIT:C28193 syndromic disease MONDO:0019954 pancreatic neuroendocrine tumor MONDO:0000386 NCIT:C27720 NCIT:C95404 digestive system neuroendocrine tumor, grade 1/2 MONDO:0019954 pancreatic neuroendocrine tumor MONDO:0005815 NCIT:C27720 NCIT:C27031 pancreatic neuroendocrine neoplasm MONDO:0019962 thyroid lymphoma MONDO:0002108 NCIT:C5265 NCIT:C7510 thyroid cancer MONDO:0019962 thyroid lymphoma MONDO:0017207 NCIT:C5265 NCIT:C7185 primary organ-specific lymphoma +MONDO:0019978 Robinow syndrome MONDO:0002254 NCIT:C85048 NCIT:C28193 syndromic disease +MONDO:0019991 immunotactoid glomerulopathy MONDO:0002462 NCIT:C158968 NCIT:C26784 glomerulonephritis +MONDO:0019991 immunotactoid glomerulopathy MONDO:0002462 NCIT:C96182 NCIT:C26784 glomerulonephritis +MONDO:0020040 46,XY disorder of sex development MONDO:0002145 NCIT:C127171 NCIT:C103186 disorder of sexual differentiation +MONDO:0020066 Ehlers-Danlos syndrome MONDO:0002254 NCIT:C34568 NCIT:C28193 syndromic disease +MONDO:0020067 infectious encephalitis MONDO:0019956 NCIT:C79550 NCIT:C26760 encephalitis +MONDO:0020067 infectious encephalitis MONDO:0024619 NCIT:C79550 NCIT:C27582 central nervous system infectious disorder MONDO:0020076 myeloproliferative neoplasm MONDO:0005170 NCIT:C4345 NCIT:C9290 myeloid neoplasm MONDO:0020076 myeloproliferative neoplasm MONDO:0021138 NCIT:C4345 NCIT:C35501 bone marrow cancer +MONDO:0020088 familial partial lipodystrophy MONDO:0027767 NCIT:C84708 NCIT:C131296 partial lipodystrophy +MONDO:0020121 muscular dystrophy MONDO:0005336 NCIT:C84910 NCIT:C101216 myopathy +MONDO:0020123 metabolic myopathy MONDO:0005336 NCIT:C98985 NCIT:C101216 myopathy MONDO:0020204 conjunctival tumor MONDO:0006170 NCIT:C2961 NCIT:C27605 conjunctival disorder MONDO:0020204 conjunctival tumor MONDO:0021220 NCIT:C2961 NCIT:C3030 eye neoplasm +MONDO:0020242 hereditary macular dystrophy MONDO:0019118 NCIT:C140264 NCIT:C35625 inherited retinal dystrophy +MONDO:0020250 autosomal dominant optic atrophy MONDO:0043878 NCIT:C84577 NCIT:C34864 hereditary optic atrophy +MONDO:0020290 familial atrioventricular septal defect MONDO:0002078 NCIT:C101029 NCIT:C84482 heart septal defect +MONDO:0020291 hypoplastic right heart syndrome MONDO:0002254 NCIT:C99053 NCIT:C28193 syndromic disease +MONDO:0020295 congenital pulmonary veins anomaly MONDO:0005453 NCIT:C110942 NCIT:C95834 congenital heart disease +MONDO:0020296 congenital arteriovenous fistula MONDO:0024239 NCIT:C35377 NCIT:C35729 congenital anomaly of cardiovascular system MONDO:0020311 chronic myelomonocytic leukemia MONDO:0006311 NCIT:C3178 NCIT:C27262 myelodysplastic/myeloproliferative neoplasm MONDO:0020320 acute myeloblastic leukemia with maturation MONDO:0015667 NCIT:C3250 NCIT:C27753 acute myeloid leukemia by FAB classification MONDO:0020321 acute undifferentiated leukemia MONDO:0019460 NCIT:C9298 NCIT:C7464 acute leukemia of ambiguous lineage @@ -3239,13 +4859,26 @@ MONDO:0020323 primary mediastinal large B-cell lymphoma MONDO:0000951 NCIT:C9280 MONDO:0020323 primary mediastinal large B-cell lymphoma MONDO:0018905 NCIT:C9280 NCIT:C8851 diffuse large B-cell lymphoma MONDO:0020324 intravascular large B-cell lymphoma MONDO:0018905 NCIT:C4342 NCIT:C8851 diffuse large B-cell lymphoma MONDO:0020325 anaplastic large cell lymphoma MONDO:0000430 NCIT:C3720 NCIT:C3468 mature T-cell and NK-cell non-Hodgkin lymphoma -MONDO:0020331 indolent systemic mastocytosis MONDO:0016586 NCIT:C9286 NCIT:C9235 systemic mastocytosis +MONDO:0020334 mast cell leukemia MONDO:0005059 NCIT:C3169 NCIT:C3161 leukemia +MONDO:0020338 adult pure red cell aplasia MONDO:0001705 NCIT:C70548 NCIT:C34974 pure red-cell aplasia +MONDO:0020347 acute inflammatory demyelinating polyradiculoneuropathy MONDO:0016218 NCIT:C116926 NCIT:C116345 Guillain-Barre syndrome +MONDO:0020348 acute motor and sensory axonal neuropathy MONDO:0016218 NCIT:C116927 NCIT:C116345 Guillain-Barre syndrome +MONDO:0020349 acute motor axonal neuropathy MONDO:0016218 NCIT:C116929 NCIT:C116345 Guillain-Barre syndrome +MONDO:0020404 shone complex MONDO:0002254 NCIT:C99058 NCIT:C28193 syndromic disease +MONDO:0020481 myotonia fluctuans MONDO:0018959 NCIT:C122789 NCIT:C122788 potassium-aggravated myotonia +MONDO:0020487 Pontiac fever MONDO:0005823 NCIT:C128335 NCIT:C128334 legionellosis +MONDO:0020491 subcortical band heterotopia MONDO:0002254 NCIT:C116933 NCIT:C28193 syndromic disease +MONDO:0020501 Crimean-Congo hemorrhagic fever MONDO:0018087 NCIT:C34682 NCIT:C36170 viral hemorrhagic fever MONDO:0020511 precursor B-cell acute lymphoblastic leukemia MONDO:0004967 NCIT:C8644 NCIT:C3167 acute lymphoblastic leukemia MONDO:0020516 thymic neuroendocrine carcinoma MONDO:0006451 NCIT:C171031 NCIT:C7569 thymic carcinoma +MONDO:0020525 transient neonatal diabetes mellitus MONDO:0016391 NCIT:C114899 NCIT:C99248 neonatal diabetes mellitus MONDO:0020540 ovarian gynandroblastoma MONDO:0021657 NCIT:C3072 NCIT:C4862 ovarian sex cord-stromal tumor MONDO:0020541 maligant granulosa cell tumor of ovary MONDO:0018172 NCIT:C8403 NCIT:C8053 malignant sex cord stromal tumor of ovary MONDO:0020541 maligant granulosa cell tumor of ovary MONDO:0023283 NCIT:C8403 NCIT:C6261 ovarian granulosa cell tumor +MONDO:0020546 acute graft versus host disease MONDO:0013730 NCIT:C4980 NCIT:C3063 graft versus host disease +MONDO:0020547 chronic graft versus host disease MONDO:0013730 NCIT:C4981 NCIT:C3063 graft versus host disease MONDO:0020549 invasive hydatidiform mole MONDO:0006248 NCIT:C6985 NCIT:C3110 hydatidiform mole +MONDO:0020550 gestational choriocarcinoma MONDO:0001416 NCIT:C4646 NCIT:C4913 female reproductive organ cancer MONDO:0020550 gestational choriocarcinoma MONDO:0005207 NCIT:C4646 NCIT:C2948 choriocarcinoma MONDO:0020550 gestational choriocarcinoma MONDO:0018944 NCIT:C4646 NCIT:C4699 gestational trophoblastic neoplasm MONDO:0020552 placental site trophoblastic tumor MONDO:0018944 NCIT:C3757 NCIT:C4699 gestational trophoblastic neoplasm @@ -3255,23 +4888,40 @@ MONDO:0020557 pleuropulmonary blastoma type 3 MONDO:0011014 NCIT:C45628 NCIT:C56 MONDO:0020560 atypical teratoid rhabdoid tumor MONDO:0002728 NCIT:C6906 NCIT:C3808 rhabdoid tumor MONDO:0020562 pleomorphic liposarcoma MONDO:0005060 NCIT:C3705 NCIT:C3194 liposarcoma MONDO:0020563 dedifferentiated liposarcoma MONDO:0005060 NCIT:C3704 NCIT:C3194 liposarcoma +MONDO:0020572 complex regional pain syndrome type 2 MONDO:0002254 NCIT:C121572 NCIT:C28193 syndromic disease MONDO:0020574 central nervous system nongerminomatous germ cell tumor MONDO:0003000 NCIT:C100093 NCIT:C5461 central nervous system germ cell tumor +MONDO:0020575 polymorphic ventricular tachycardia MONDO:0005477 NCIT:C111648 NCIT:C50802 ventricular tachycardia +MONDO:0020576 cutaneous vasculitis MONDO:0018882 NCIT:C112210 NCIT:C26912 vasculitis +MONDO:0020579 mucositis MONDO:0021166 NCIT:C115965 NCIT:C93210 inflammatory disease MONDO:0020580 germinomatous germ cell tumor MONDO:0005040 NCIT:C121618 NCIT:C3708 germ cell tumor MONDO:0020581 benign PEComa MONDO:0006359 NCIT:C121791 NCIT:C38150 neoplasm with perivascular epithelioid cell differentiation MONDO:0020582 benign uterine ligament neoplasm MONDO:0021629 NCIT:C126493 NCIT:C40133 uterine ligament neoplasm +MONDO:0020584 anemia due to enzyme disorder MONDO:0002280 NCIT:C35472 NCIT:C2869 anemia +MONDO:0020585 anemia due to erythrocyte enzyme disorder MONDO:0020584 NCIT:C131630 NCIT:C35472 anemia due to enzyme disorder +MONDO:0020586 factor V deficiency MONDO:0002242 NCIT:C131738 NCIT:C27215 coagulation protein disease +MONDO:0020587 factor XI deficiency MONDO:0018660 NCIT:C131739 NCIT:C3093 hemophilia MONDO:0020588 lung PEComa MONDO:0006359 NCIT:C142783 NCIT:C38150 neoplasm with perivascular epithelioid cell differentiation MONDO:0020589 cardiac germ cell tumor MONDO:0018201 NCIT:C147005 NCIT:C3918 extragonadal germ cell tumor MONDO:0020589 cardiac germ cell tumor MONDO:0021209 NCIT:C147005 NCIT:C3081 heart neoplasm +MONDO:0020590 mycobacterial infectious disease MONDO:0005113 NCIT:C26831 NCIT:C2890 bacterial infectious disease +MONDO:0020592 disorder of pharynx MONDO:0024623 NCIT:C26850 NCIT:C118420 otorhinolaryngologic disease +MONDO:0020594 abducens nerve disorder MONDO:0003569 NCIT:C27593 NCIT:C26733 cranial nerve neuropathy MONDO:0020596 mucin-producing carcinoma MONDO:0004993 NCIT:C27825 NCIT:C2916 carcinoma +MONDO:0020599 acquired coagulation factor deficiency MONDO:0002242 NCIT:C34347 NCIT:C27215 coagulation protein disease +MONDO:0020600 acute pharyngitis MONDO:0002258 NCIT:C34355 NCIT:C26851 pharyngitis +MONDO:0020601 mosquito-borne viral encephalitis MONDO:0006009 NCIT:C34823 NCIT:C35302 viral encephalitis MONDO:0020633 anaplastic cancer MONDO:0004992 NCIT:C36025 NCIT:C9305 cancer MONDO:0020634 grade III meningioma MONDO:0016642 NCIT:C38938 NCIT:C3230 meningioma MONDO:0020635 anaplastic meningioma MONDO:0020633 NCIT:C4051 NCIT:C36025 anaplastic cancer MONDO:0020635 anaplastic meningioma MONDO:0020634 NCIT:C4051 NCIT:C38938 grade III meningioma MONDO:0020638 superficial spreading melanoma MONDO:0005012 NCIT:C9152 NCIT:C3510 cutaneous melanoma +MONDO:0020640 autoimmune encephalitis MONDO:0019956 NCIT:C122414 NCIT:C26760 encephalitis MONDO:0020641 respiratory tract neoplasm MONDO:0005087 NCIT:C3355 NCIT:C26871 respiratory system disorder MONDO:0020644 lung non-Hodgkin lymphoma MONDO:0003987 NCIT:C5684 NCIT:C4794 lung lymphoma MONDO:0020644 lung non-Hodgkin lymphoma MONDO:0018908 NCIT:C5684 NCIT:C3211 non-Hodgkin lymphoma +MONDO:0020645 autosomal dominant osteopetrosis MONDO:0017198 NCIT:C129732 NCIT:C26840 osteopetrosis MONDO:0020646 ocular adnexal lymphoma MONDO:0018908 NCIT:C88145 NCIT:C3211 non-Hodgkin lymphoma +MONDO:0020649 warty carcinoma of the penis MONDO:0004433 NCIT:C6981 NCIT:C6983 papillary carcinoma of the penis MONDO:0020649 warty carcinoma of the penis MONDO:0020656 NCIT:C6981 NCIT:C27682 human papillomavirus-related penile squamous cell carcinoma MONDO:0020653 vaginal adenocarcinoma MONDO:0001704 NCIT:C7981 NCIT:C40250 vaginal glandular neoplasm MONDO:0020653 vaginal adenocarcinoma MONDO:0004970 NCIT:C7981 NCIT:C2852 adenocarcinoma @@ -3285,23 +4935,41 @@ MONDO:0020662 borderline ovarian serous tumor MONDO:0016093 NCIT:C5226 NCIT:C478 MONDO:0020662 borderline ovarian serous tumor MONDO:0037255 NCIT:C5226 NCIT:C8431 ovarian serous tumor MONDO:0020663 malignant spindle cell neoplasm MONDO:0020664 NCIT:C27091 NCIT:C27263 spindle cell neoplasm MONDO:0020669 paranasal sinus cancer MONDO:0005289 NCIT:C7487 NCIT:C7488 paranasal sinus neoplasm +MONDO:0020673 arterial occlusion MONDO:0000473 NCIT:C35318 NCIT:C35317 arterial disorder +MONDO:0020678 sensorineural hearing loss disorder MONDO:0005365 NCIT:C26739 NCIT:C35731 hearing loss disorder +MONDO:0020679 conductive hearing loss disorder MONDO:0005365 NCIT:C27645 NCIT:C35731 hearing loss disorder +MONDO:0020680 acute bronchiolitis MONDO:0002465 NCIT:C39659 NCIT:C39658 bronchiolitis +MONDO:0020686 acute tonsillitis MONDO:0001039 NCIT:C97142 NCIT:C116006 tonsillitis MONDO:0020690 adult glioblastoma MONDO:0004320 NCIT:C9094 NCIT:C8289 adult infiltrating astrocytic neoplasm MONDO:0020690 adult glioblastoma MONDO:0018177 NCIT:C9094 NCIT:C3058 glioblastoma MONDO:0020694 salivary gland epithelial myoepithelial carcinoma MONDO:0000521 NCIT:C35701 NCIT:C9272 salivary gland carcinoma MONDO:0020694 salivary gland epithelial myoepithelial carcinoma MONDO:0003389 NCIT:C35701 NCIT:C4199 epithelial-myoepithelial carcinoma +MONDO:0020695 hypotonic cerebral palsy MONDO:0006497 NCIT:C116906 NCIT:C34460 cerebral palsy +MONDO:0020696 vitamin B12 deficiency MONDO:0042976 NCIT:C131684 NCIT:C35129 vitamin B deficiency MONDO:0020697 lung epithelial-myoepithelial carcinoma MONDO:0003389 NCIT:C45545 NCIT:C4199 epithelial-myoepithelial carcinoma MONDO:0020697 lung epithelial-myoepithelial carcinoma MONDO:0005138 NCIT:C45545 NCIT:C4878 lung carcinoma +MONDO:0020706 Heberden's node MONDO:0002181 NCIT:C34671 NCIT:C3029 exostosis +MONDO:0020707 central hearing loss MONDO:0005365 NCIT:C34662 NCIT:C35731 hearing loss disorder +MONDO:0020708 brachial amyotrophic diplegia MONDO:0005559 NCIT:C133085 NCIT:C4802 neurodegenerative disease +MONDO:0020725 anemia due to chronic disorder MONDO:0002280 NCIT:C35659 NCIT:C2869 anemia +MONDO:0020731 arbovirus infection MONDO:0005108 NCIT:C34396 NCIT:C3439 viral infectious disease +MONDO:0020740 ectodermal dysplasia and immunodeficiency 1 MONDO:0010293 NCIT:C176592 NCIT:C118844 ectodermal dysplasia and immune deficiency MONDO:0020743 mixed phenotype acute leukemia MONDO:0019460 NCIT:C82179 NCIT:C7464 acute leukemia of ambiguous lineage +MONDO:0020744 Mobitz type I atrioventricular block MONDO:0000467 NCIT:C62017 NCIT:C111119 second-degree atrioventricular block MONDO:0020760 skin squamous cell carcinoma in situ MONDO:0002529 NCIT:C2906 NCIT:C4819 skin squamous cell carcinoma MONDO:0020760 skin squamous cell carcinoma in situ MONDO:0004641 NCIT:C2906 NCIT:C3640 skin carcinoma in situ MONDO:0020760 skin squamous cell carcinoma in situ MONDO:0004693 NCIT:C2906 NCIT:C27093 squamous carcinoma in situ MONDO:0020761 Bowen disease of the skin MONDO:0020760 NCIT:C62571 NCIT:C2906 skin squamous cell carcinoma in situ +MONDO:0020767 cauda equina syndrome with neurogenic bladder MONDO:0005693 NCIT:C34453 NCIT:C35436 cauda equina syndrome +MONDO:0020782 chronic gingivitis MONDO:0002508 NCIT:C34474 NCIT:C34636 gingivitis MONDO:0020794 colorectal medullary carcinoma MONDO:0005008 NCIT:C43590 NCIT:C5105 colorectal adenocarcinoma MONDO:0020799 basal cell neoplasm MONDO:0005626 NCIT:C3784 NCIT:C3709 epithelial neoplasm +MONDO:0020800 demyelinating disease of central nervous system MONDO:0002562 NCIT:C34526 NCIT:C34527 demyelinating disease MONDO:0020801 rectal medullary carcinoma MONDO:0002169 NCIT:C60640 NCIT:C9383 rectum adenocarcinoma MONDO:0020801 rectal medullary carcinoma MONDO:0020794 NCIT:C60640 NCIT:C43590 colorectal medullary carcinoma MONDO:0020804 basal cell carcinoma MONDO:0004993 NCIT:C156767 NCIT:C2916 carcinoma -MONDO:0020804 basal cell carcinoma MONDO:0020799 NCIT:C156767 NCIT:C3784 basal cell neoplasm +MONDO:0020804 basal cell carcinoma MONDO:0020799 NCIT:C7586 NCIT:C3784 basal cell neoplasm +MONDO:0020805 benign basal cell neoplasm MONDO:0020799 NCIT:C4743 NCIT:C3784 basal cell neoplasm MONDO:0020807 ovarian sertoli-stromal cell tumor MONDO:0021657 NCIT:C39966 NCIT:C4862 ovarian sex cord-stromal tumor MONDO:0020808 testicular sertoli cell tumor MONDO:0002696 NCIT:C4672 NCIT:C39976 Sertoli cell tumor MONDO:0020808 testicular sertoli cell tumor MONDO:0003125 NCIT:C4672 NCIT:C6358 testicular sex cord-stromal neoplasm @@ -3309,9 +4977,22 @@ MONDO:0020809 benign sertoli cell tumor MONDO:0002696 NCIT:C67012 NCIT:C39976 Se MONDO:0020813 benign testicular sertoli cell tumor MONDO:0020808 NCIT:C6522 NCIT:C4672 testicular sertoli cell tumor MONDO:0020813 benign testicular sertoli cell tumor MONDO:0020809 NCIT:C6522 NCIT:C67012 benign sertoli cell tumor MONDO:0020813 benign testicular sertoli cell tumor MONDO:0021447 NCIT:C6522 NCIT:C3612 benign neoplasm of testis +MONDO:0020838 anterior nasal diphtheria MONDO:0005504 NCIT:C34542 NCIT:C34541 diphtheria +MONDO:0020843 pseudomembranous diphtheritic conjunctivitis MONDO:0001217 NCIT:C34543 NCIT:C35196 pseudomembranous conjunctivitis +MONDO:0020920 escherichia coli infection MONDO:0005113 NCIT:C34594 NCIT:C2890 bacterial infectious disease +MONDO:0020971 gonococcal urethritis MONDO:0005297 NCIT:C26787 NCIT:C26904 urethritis +MONDO:0020977 granulomatous prostatitis MONDO:0005280 NCIT:C26789 NCIT:C26866 prostatitis +MONDO:0020979 pilosebaceous hamartoma MONDO:0021539 NCIT:C5565 NCIT:C5562 hamartoma of skin appendage +MONDO:0020980 hair nevus MONDO:0020979 NCIT:C3074 NCIT:C5565 pilosebaceous hamartoma +MONDO:0021001 hemochromatosis type 1 MONDO:0006507 NCIT:C84764 NCIT:C84481 hereditary hemochromatosis MONDO:0021009 salivary gland mucoepidermoid carcinoma MONDO:0000521 NCIT:C5908 NCIT:C9272 salivary gland carcinoma MONDO:0021010 skin lymphangiosarcoma MONDO:0006282 NCIT:C4490 NCIT:C3205 lymphangiosarcoma MONDO:0021010 skin lymphangiosarcoma MONDO:0006414 NCIT:C4490 NCIT:C5585 skin sarcoma +MONDO:0021013 trichothiodystrophy 4, nonphotosensitive MONDO:0018053 NCIT:C146899 NCIT:C4924 trichothiodystrophy +MONDO:0021019 X-linked recessive ocular albinism MONDO:0043209 NCIT:C118785 NCIT:C84543 albinism +MONDO:0021023 complete androgen insensitivity syndrome MONDO:0019154 NCIT:C120191 NCIT:C27226 androgen insensitivity syndrome +MONDO:0021032 herpes zoster with dermatitis of eyelid MONDO:0021033 NCIT:C34696 NCIT:C35619 herpes zoster dermatitis +MONDO:0021033 herpes zoster dermatitis MONDO:0021201 NCIT:C35619 NCIT:C35025 skin infection MONDO:0021038 Ewing sarcoma/peripheral primitive neuroectodermal tumor MONDO:0005564 NCIT:C27291 NCIT:C3264 embryonal neoplasm MONDO:0021039 extraskeletal Ewing sarcoma/peripheral primitive neuroectodermal tumor MONDO:0021038 NCIT:C27293 NCIT:C27291 Ewing sarcoma/peripheral primitive neuroectodermal tumor MONDO:0021040 pancreatic neoplasm MONDO:0002356 NCIT:C3305 NCIT:C26842 pancreas disorder @@ -3334,6 +5015,8 @@ MONDO:0021053 carotid body paraganglioma MONDO:0006239 NCIT:C2932 NCIT:C5327 hea MONDO:0021053 carotid body paraganglioma MONDO:0021052 NCIT:C2932 NCIT:C4217 parasympathetic paraganglioma MONDO:0021054 bone sarcoma MONDO:0002129 NCIT:C9312 NCIT:C4016 bone cancer MONDO:0021054 bone sarcoma MONDO:0005089 NCIT:C9312 NCIT:C9118 sarcoma +MONDO:0021060 RASopathy MONDO:0003847 NCIT:C179667 NCIT:C3101 hereditary disease +MONDO:0021061 neurofibromatosis MONDO:0042983 NCIT:C6727 NCIT:C84348 neurocutaneous syndrome MONDO:0021063 malignant colon neoplasm MONDO:0005401 NCIT:C9242 NCIT:C2953 colonic neoplasm MONDO:0021063 malignant colon neoplasm MONDO:0005575 NCIT:C9242 NCIT:C4978 colorectal cancer MONDO:0021064 jugulotympanic paraganglioma MONDO:0006239 NCIT:C3061 NCIT:C5327 head and neck paraganglioma @@ -3350,6 +5033,7 @@ MONDO:0021070 sublingual gland carcinoma MONDO:0004667 NCIT:C8397 NCIT:C3527 sub MONDO:0021070 sublingual gland carcinoma MONDO:0006284 NCIT:C8397 NCIT:C5907 major salivary gland carcinoma MONDO:0021071 laryngeal neoplasm MONDO:0004382 NCIT:C3156 NCIT:C26810 laryngeal disorder MONDO:0021072 sympathetic paraganglioma MONDO:0000448 NCIT:C4216 NCIT:C3308 paraganglioma +MONDO:0021073 paraneoplastic syndrome MONDO:0045054 NCIT:C3311 NCIT:C8278 cancer-related condition MONDO:0021075 neoplastic polyp MONDO:0005079 NCIT:C7068 NCIT:C3340 polyp MONDO:0021076 pancreatic exocrine neoplasm MONDO:0021040 NCIT:C4445 NCIT:C3305 pancreatic neoplasm MONDO:0021078 glandular papilloma MONDO:0002363 NCIT:C6880 NCIT:C7440 papilloma @@ -3365,6 +5049,7 @@ MONDO:0021091 papillary cystadenoma MONDO:0002369 NCIT:C2974 NCIT:C2972 cystaden MONDO:0021091 papillary cystadenoma MONDO:0006349 NCIT:C2974 NCIT:C4179 papillary cystic neoplasm MONDO:0021092 fallopian tube neoplasm MONDO:0002156 NCIT:C3032 NCIT:C26771 fallopian tube disorder MONDO:0021092 fallopian tube neoplasm MONDO:0021148 NCIT:C3032 NCIT:C3053 female reproductive system neoplasm +MONDO:0021094 immunodeficiency disease MONDO:0005046 NCIT:C3131 NCIT:C3507 immune system disorder MONDO:0021096 papillary epithelial neoplasm MONDO:0005626 NCIT:C8429 NCIT:C3709 epithelial neoplasm MONDO:0021097 intraductal breast papilloma MONDO:0000620 NCIT:C3863 NCIT:C4505 breast benign neoplasm MONDO:0021097 intraductal breast papilloma MONDO:0002060 NCIT:C3863 NCIT:C3785 intraductal papilloma @@ -3389,6 +5074,10 @@ MONDO:0021119 non-functioning endocrine neoplasm MONDO:0002082 NCIT:C94760 NCIT: MONDO:0021120 functioning endocrine neoplasm MONDO:0002082 NCIT:C94759 NCIT:C3010 endocrine gland neoplasm MONDO:0021121 hemangioendothelioma MONDO:0021080 NCIT:C3084 NCIT:C7387 blood vessel neoplasm MONDO:0021123 Ewing sarcoma/peripheral primitive neuroectodermal tumor of bone MONDO:0021038 NCIT:C35871 NCIT:C27291 Ewing sarcoma/peripheral primitive neuroectodermal tumor +MONDO:0021132 tertiary hyperparathyroidism MONDO:0001741 NCIT:C114821 NCIT:C48259 hyperparathyroidism +MONDO:0021133 acquired factor XIII deficiency MONDO:0020599 NCIT:C131629 NCIT:C34347 acquired coagulation factor deficiency +MONDO:0021134 acquired factor X deficiency MONDO:0002247 NCIT:C131626 NCIT:C131632 factor X deficiency +MONDO:0021134 acquired factor X deficiency MONDO:0020599 NCIT:C131626 NCIT:C34347 acquired coagulation factor deficiency MONDO:0021138 bone marrow cancer MONDO:0005374 NCIT:C35501 NCIT:C35370 bone marrow neoplasm MONDO:0021144 ovarian clear cell tumor MONDO:0002229 NCIT:C40076 NCIT:C4381 ovarian epithelial tumor MONDO:0021148 female reproductive system neoplasm MONDO:0002263 NCIT:C3053 NCIT:C27020 female reproductive system disorder @@ -3397,7 +5086,9 @@ MONDO:0021163 kidney neoplasm MONDO:0005240 NCIT:C3150 NCIT:C3149 kidney disorde MONDO:0021165 Paget disease MONDO:0004970 NCIT:C7073 NCIT:C2852 adenocarcinoma MONDO:0021168 hibernoma MONDO:0005106 NCIT:C3702 NCIT:C3192 lipoma MONDO:0021169 epithelioid hemangioma MONDO:0006500 NCIT:C4298 NCIT:C3085 hemangioma +MONDO:0021175 herpetic vulvovaginitis MONDO:0007019 NCIT:C34697 NCIT:C35131 vulvovaginitis MONDO:0021192 odontogenic neoplasm MONDO:0006999 NCIT:C3286 NCIT:C35077 tooth disorder +MONDO:0021205 disorder of ear MONDO:0024623 NCIT:C26757 NCIT:C118420 otorhinolaryngologic disease MONDO:0021209 heart neoplasm MONDO:0005267 NCIT:C3081 NCIT:C3079 heart disorder MONDO:0021209 heart neoplasm MONDO:0021350 NCIT:C3081 NCIT:C3406 neoplasm of thorax MONDO:0021209 heart neoplasm MONDO:0024757 NCIT:C3081 NCIT:C4784 cardiovascular neoplasm @@ -3427,6 +5118,7 @@ MONDO:0021237 adrenal medulla neoplasm MONDO:0021227 NCIT:C4856 NCIT:C2859 adren MONDO:0021238 cornea neoplasm MONDO:0000942 NCIT:C4361 NCIT:C26731 corneal disorder MONDO:0021238 cornea neoplasm MONDO:0021220 NCIT:C4361 NCIT:C3030 eye neoplasm MONDO:0021239 urethra neoplasm MONDO:0004184 NCIT:C3428 NCIT:C26903 urethral disorder +MONDO:0021239 urethra neoplasm MONDO:0021066 NCIT:C3428 NCIT:C3431 urinary system neoplasm MONDO:0021240 tongue neoplasm MONDO:0001165 NCIT:C3416 NCIT:C173793 tongue disorder MONDO:0021242 sublingual gland neoplasm MONDO:0021368 NCIT:C3392 NCIT:C4407 neoplasm of major salivary gland MONDO:0021243 parotid gland neoplasm MONDO:0021368 NCIT:C3314 NCIT:C4407 neoplasm of major salivary gland @@ -3514,6 +5206,7 @@ MONDO:0021370 neoplasm of minor salivary gland MONDO:0021357 NCIT:C4409 NCIT:C33 MONDO:0021372 neoplasm of temporal lobe MONDO:0021374 NCIT:C5567 NCIT:C4874 neoplasm of cerebral hemisphere MONDO:0021373 neoplasm of parietal lobe MONDO:0021374 NCIT:C5573 NCIT:C4874 neoplasm of cerebral hemisphere MONDO:0021375 tumor of duodenum MONDO:0004251 NCIT:C2995 NCIT:C4432 small intestine neoplasm +MONDO:0021377 hypertrophic lichen planus MONDO:0006572 NCIT:C34779 NCIT:C3189 lichen planus MONDO:0021378 neoplasm of endocardium MONDO:0021209 NCIT:C5346 NCIT:C3081 heart neoplasm MONDO:0021379 neoplasm of epicardium MONDO:0021209 NCIT:C5347 NCIT:C3081 heart neoplasm MONDO:0021380 neoplasm of myocardium MONDO:0021209 NCIT:C5349 NCIT:C3081 heart neoplasm @@ -3522,6 +5215,12 @@ MONDO:0021386 neoplasm of mediastinum MONDO:0021350 NCIT:C3221 NCIT:C3406 neopla MONDO:0021388 neoplasm of chest wall MONDO:0021350 NCIT:C4929 NCIT:C3406 neoplasm of thorax MONDO:0021389 neoplasm of aortic body MONDO:0021052 NCIT:C4218 NCIT:C4217 parasympathetic paraganglioma MONDO:0021390 polyp of ureter MONDO:0005079 NCIT:C4530 NCIT:C3340 polyp +MONDO:0021394 polyp of vagina MONDO:0005079 NCIT:C3664 NCIT:C3340 polyp +MONDO:0021396 polyp of vulva MONDO:0005079 NCIT:C3978 NCIT:C3340 polyp +MONDO:0021398 polyp of rectum MONDO:0021392 NCIT:C3351 NCIT:C5679 polyp of large intestine +MONDO:0021400 polyp of colon MONDO:0021392 NCIT:C2954 NCIT:C5679 polyp of large intestine +MONDO:0021416 polyp of gallbladder MONDO:0005281 NCIT:C3909 NCIT:C34631 gallbladder disorder +MONDO:0021420 polyp of vocal cord MONDO:0005079 NCIT:C3440 NCIT:C3340 polyp MONDO:0021424 hemangiopericytoma of skin MONDO:0005094 NCIT:C4492 NCIT:C3087 hemangiopericytoma MONDO:0021427 squamous cell carcinoma of lip MONDO:0021333 NCIT:C4042 NCIT:C3490 carcinoma of lip MONDO:0021429 squamous cell carcinoma of floor of mouth MONDO:0004958 NCIT:C4041 NCIT:C4833 oral cavity squamous cell carcinoma @@ -3572,6 +5271,7 @@ MONDO:0021470 benign neoplasm of pancreas MONDO:0000385 NCIT:C4612 NCIT:C4787 be MONDO:0021470 benign neoplasm of pancreas MONDO:0021040 NCIT:C4612 NCIT:C3305 pancreatic neoplasm MONDO:0021471 benign neoplasm of endometrium MONDO:0021251 NCIT:C4894 NCIT:C3012 endometrium neoplasm MONDO:0021472 benign neoplasm of scrotum MONDO:0003319 NCIT:C3615 NCIT:C4380 scrotum neoplasm +MONDO:0021473 benign neoplasm of epididymis MONDO:0000625 NCIT:C3614 NCIT:C4777 benign male reproductive system neoplasm MONDO:0021473 benign neoplasm of epididymis MONDO:0003283 NCIT:C3614 NCIT:C39958 epididymal neoplasm MONDO:0021474 benign neoplasm of ear MONDO:0021233 NCIT:C8417 NCIT:C3000 ear neoplasm MONDO:0021475 benign neoplasm of nasal cavity MONDO:0004756 NCIT:C4603 NCIT:C4413 nasal cavity neoplasm @@ -3651,6 +5351,7 @@ MONDO:0021534 rectal neuroendocrine tumor G1 MONDO:0015068 NCIT:C5547 NCIT:C1352 MONDO:0021535 pancreatic neuroendocrine tumor G1 MONDO:0019954 NCIT:C95584 NCIT:C27720 pancreatic neuroendocrine tumor MONDO:0021538 verrucous carcinoma of oral cavity MONDO:0004958 NCIT:C8174 NCIT:C4833 oral cavity squamous cell carcinoma MONDO:0021538 verrucous carcinoma of oral cavity MONDO:0006006 NCIT:C8174 NCIT:C3781 verrucous carcinoma +MONDO:0021539 hamartoma of skin appendage MONDO:0006499 NCIT:C5562 NCIT:C3075 hamartoma MONDO:0021542 hemangioma of choroid MONDO:0006500 NCIT:C4562 NCIT:C3085 hemangioma MONDO:0021542 hemangioma of choroid MONDO:0021487 NCIT:C4562 NCIT:C3625 benign neoplasm of choroid MONDO:0021543 hemangioma of gingiva MONDO:0006500 NCIT:C4831 NCIT:C3085 hemangioma @@ -3684,24 +5385,55 @@ MONDO:0021656 nongerminomatous germ cell tumor MONDO:0005040 NCIT:C121619 NCIT:C MONDO:0021657 ovarian sex cord-stromal tumor MONDO:0006055 NCIT:C4862 NCIT:C3794 sex cord-stromal tumor MONDO:0021657 ovarian sex cord-stromal tumor MONDO:0021068 NCIT:C4862 NCIT:C4984 ovarian neoplasm MONDO:0021659 combined carcinoid and adenocarcinoma MONDO:0004993 NCIT:C4139 NCIT:C2916 carcinoma +MONDO:0021661 coronary atherosclerosis MONDO:0005311 NCIT:C35505 NCIT:C35768 atherosclerosis MONDO:0021662 bile duct neoplasm MONDO:0002887 NCIT:C2898 NCIT:C96716 bile duct disorder MONDO:0021663 sarcomatoid squamous cell carcinoma MONDO:0005096 NCIT:C27084 NCIT:C2929 squamous cell carcinoma MONDO:0021663 sarcomatoid squamous cell carcinoma MONDO:0006406 NCIT:C27084 NCIT:C27004 sarcomatoid carcinoma +MONDO:0021681 sexually transmitted disease MONDO:0005550 NCIT:C3365 NCIT:C26726 infectious disease +MONDO:0021718 polyneuritis MONDO:0001824 NCIT:C26864 NCIT:C26951 polyneuropathy +MONDO:0021718 polyneuritis MONDO:0002122 NCIT:C26864 NCIT:C116381 neuritis +MONDO:0021736 proctosigmoiditis MONDO:0024278 NCIT:C34950 NCIT:C77952 proctocolitis +MONDO:0021777 acute rheumatic heart disease MONDO:0006955 NCIT:C34985 NCIT:C34882 rheumatic heart disease +MONDO:0021783 streptococcal sore throat MONDO:0002258 NCIT:C116003 NCIT:C26851 pharyngitis MONDO:0021812 adnexal spiradenoma/cylindroma of a sweat gland MONDO:0021489 NCIT:C27094 NCIT:C4879 benign neoplasm of sweat gland MONDO:0021879 small cell variant anaplastic large cell lymphoma MONDO:0020325 NCIT:C7208 NCIT:C3720 anaplastic large cell lymphoma +MONDO:0021895 temporomandibular joint dysfunction syndrome MONDO:0002254 NCIT:C35066 NCIT:C28193 syndromic disease +MONDO:0021915 arakawa syndrome 2 MONDO:0002254 NCIT:C99081 NCIT:C28193 syndromic disease +MONDO:0021953 tuberculous fibrosis of lung MONDO:0006052 NCIT:C35088 NCIT:C26899 pulmonary tuberculosis +MONDO:0022103 chronic prostatitis MONDO:0005280 NCIT:C26930 NCIT:C26866 prostatitis +MONDO:0022220 Parinaud syndrome MONDO:0002254 NCIT:C54102 NCIT:C28193 syndromic disease +MONDO:0022293 vascular disorder of penis MONDO:0002036 NCIT:C35218 NCIT:C26846 penile disorder +MONDO:0022293 vascular disorder of penis MONDO:0005385 NCIT:C35218 NCIT:C35117 vascular disorder +MONDO:0022435 Mauriac syndrome MONDO:0002254 NCIT:C130997 NCIT:C28193 syndromic disease MONDO:0022578 childhood bladder carcinoma MONDO:0004986 NCIT:C118816 NCIT:C4912 urinary bladder carcinoma MONDO:0022642 childhood carcinoid tumor MONDO:0005369 NCIT:C118810 NCIT:C2915 carcinoid tumor +MONDO:0022697 athetoid cerebral palsy MONDO:0006497 NCIT:C97169 NCIT:C34460 cerebral palsy +MONDO:0022735 choroid plexus cyst MONDO:0005262 NCIT:C4351 NCIT:C4657 central nervous system cyst MONDO:0022963 desmoplastic infantile astrocytoma MONDO:0016729 NCIT:C9476 NCIT:C4747 mixed neuronal-glial tumor MONDO:0022965 desmoplastic infantile ganglioglioma MONDO:0016729 NCIT:C4738 NCIT:C4747 mixed neuronal-glial tumor +MONDO:0022993 dipsogenic diabetes insipidus MONDO:0004782 NCIT:C129735 NCIT:C43263 diabetes insipidus +MONDO:0023023 neonatal dacryocystitis MONDO:0004926 NCIT:C116819 NCIT:C34521 dacryocystitis MONDO:0023122 familial prostate carcinoma MONDO:0005159 NCIT:C103817 NCIT:C4863 prostate carcinoma +MONDO:0023161 viral myocarditis MONDO:0004496 NCIT:C128381 NCIT:C34831 myocarditis +MONDO:0023164 viral pericarditis MONDO:0005904 NCIT:C128405 NCIT:C34915 pericarditis MONDO:0023206 functional pancreatic neuroendocrine tumor MONDO:0019954 NCIT:C45840 NCIT:C27720 pancreatic neuroendocrine tumor MONDO:0023206 functional pancreatic neuroendocrine tumor MONDO:0021120 NCIT:C45840 NCIT:C94759 functioning endocrine neoplasm +MONDO:0023232 giant cell myocarditis MONDO:0002815 NCIT:C97055 NCIT:C35206 acute myocarditis MONDO:0023273 pigmented dermatofibrosarcoma protuberans MONDO:0011934 NCIT:C9430 NCIT:C4683 dermatofibrosarcoma protuberans MONDO:0023283 ovarian granulosa cell tumor MONDO:0006036 NCIT:C6261 NCIT:C3070 granulosa cell tumor +MONDO:0023415 congenital candidiasis MONDO:0002026 NCIT:C116811 NCIT:C26711 candidiasis +MONDO:0023483 infectious myositis MONDO:0021167 NCIT:C26984 NCIT:C27578 myositis disease +MONDO:0023557 infective vaginitis MONDO:0002234 NCIT:C84353 NCIT:C26911 vaginitis +MONDO:0023595 congenital myotonic dystrophy MONDO:0016107 NCIT:C123308 NCIT:C84914 myotonic dystrophy MONDO:0023597 laryngeal papillomatosis MONDO:0018955 NCIT:C157733 NCIT:C128637 recurrent respiratory papillomatosis +MONDO:0023599 mesomelic dysplasia MONDO:0005516 NCIT:C121156 NCIT:C84978 osteochondrodysplasia +MONDO:0023601 non-classic congenital adrenal hyperplasia MONDO:0018479 NCIT:C131442 NCIT:C34360 congenital adrenal hyperplasia +MONDO:0023603 hereditary disorder of connective tissue MONDO:0003900 NCIT:C97075 NCIT:C26729 connective tissue disorder MONDO:0023644 lip and oral cavity carcinoma MONDO:0002038 NCIT:C9315 NCIT:C35850 head and neck carcinoma MONDO:0023726 mediastinal yolk sac tumor MONDO:0005744 NCIT:C6443 NCIT:C3011 yolk sac tumor +MONDO:0023865 corneal infection MONDO:0003085 NCIT:C83813 NCIT:C26805 keratitis MONDO:0024235 Brenner tumor MONDO:0037254 NCIT:C39954 NCIT:C6783 transitional cell neoplasm +MONDO:0024237 inherited neurodegenerative disorder MONDO:0005559 NCIT:C97073 NCIT:C4802 neurodegenerative disease MONDO:0024240 eccrine carcinoma MONDO:0005506 NCIT:C27255 NCIT:C5559 eccrine sweat gland cancer MONDO:0024240 eccrine carcinoma MONDO:0005524 NCIT:C27255 NCIT:C6938 sweat gland carcinoma MONDO:0024245 ductal eccrine adenocarcinoma MONDO:0024240 NCIT:C43345 NCIT:C27255 eccrine carcinoma @@ -3710,30 +5442,49 @@ MONDO:0024246 syringofibroadenoma MONDO:0024247 NCIT:C43356 NCIT:C6797 benign ec MONDO:0024247 benign eccrine neoplasm MONDO:0002090 NCIT:C6797 NCIT:C6796 eccrine sweat gland neoplasm MONDO:0024247 benign eccrine neoplasm MONDO:0021489 NCIT:C6797 NCIT:C4879 benign neoplasm of sweat gland MONDO:0024276 glandular cell neoplasm MONDO:0005626 NCIT:C7132 NCIT:C3709 epithelial neoplasm +MONDO:0024279 chronic endometritis MONDO:0000918 NCIT:C102820 NCIT:C26764 endometritis +MONDO:0024280 polyarticular arthritis MONDO:0005578 NCIT:C26996 NCIT:C2883 arthritic joint disease +MONDO:0024281 juvenile chronic polyarthritis MONDO:0024280 NCIT:C26979 NCIT:C26996 polyarticular arthritis MONDO:0024282 mucinous ovarian cancer MONDO:0003756 NCIT:C40033 NCIT:C5242 ovarian mucinous neoplasm MONDO:0024282 mucinous ovarian cancer MONDO:0018364 NCIT:C40033 NCIT:C40026 malignant epithelial tumor of ovary MONDO:0024286 benign blood vessel neoplasm MONDO:0021080 NCIT:C8537 NCIT:C7387 blood vessel neoplasm +MONDO:0024292 gastrointestinal polyp MONDO:0004335 NCIT:C35516 NCIT:C2990 digestive system disorder +MONDO:0024292 gastrointestinal polyp MONDO:0005079 NCIT:C35516 NCIT:C3340 polyp MONDO:0024296 vascular neoplasm MONDO:0024757 NCIT:C7388 NCIT:C4784 cardiovascular neoplasm +MONDO:0024300 hypophosphatemic rickets MONDO:0005520 NCIT:C131449 NCIT:C26878 rickets +MONDO:0024313 staphylococcal infection MONDO:0005113 NCIT:C35038 NCIT:C2890 bacterial infectious disease +MONDO:0024315 parasitic endophthalmitis MONDO:0016047 NCIT:C34587 NCIT:C34586 endophthalmitis +MONDO:0024316 physiological malfunction arising from mental factor MONDO:0003117 NCIT:C35186 NCIT:C34956 somatoform disorder MONDO:0024320 inner ear neoplasm MONDO:0002467 NCIT:C39784 NCIT:C27166 inner ear disorder MONDO:0024320 inner ear neoplasm MONDO:0021233 NCIT:C39784 NCIT:C3000 ear neoplasm MONDO:0024323 glomangiomyoma MONDO:0018327 NCIT:C4223 NCIT:C3060 glomus tumor MONDO:0024326 pleural adenomatoid tumor MONDO:0003308 NCIT:C4499 NCIT:C9351 pleural mesothelioma MONDO:0024326 pleural adenomatoid tumor MONDO:0004230 NCIT:C4499 NCIT:C3762 adenomatoid tumor MONDO:0024326 pleural adenomatoid tumor MONDO:0021457 NCIT:C4499 NCIT:C3603 benign neoplasm of pleura +MONDO:0024327 chronic renal failure syndrome MONDO:0001106 NCIT:C9438 NCIT:C4376 kidney failure +MONDO:0024327 chronic renal failure syndrome MONDO:0005300 NCIT:C9438 NCIT:C80078 chronic kidney disease +MONDO:0024330 infectious otitis media MONDO:0005441 NCIT:C84354 NCIT:C34885 otitis media +MONDO:0024330 infectious otitis media MONDO:0021666 NCIT:C84354 NCIT:C27193 ear infection MONDO:0024331 colorectal carcinoma MONDO:0005575 NCIT:C2955 NCIT:C4978 colorectal cancer MONDO:0024331 colorectal carcinoma MONDO:0006181 NCIT:C2955 NCIT:C96963 digestive system carcinoma +MONDO:0024332 perennial allergic rhinitis MONDO:0011786 NCIT:C92189 NCIT:C79532 allergic rhinitis MONDO:0024336 vulvar adenocarcinoma MONDO:0002198 NCIT:C6380 NCIT:C40292 vulvar glandular neoplasm MONDO:0024336 vulvar adenocarcinoma MONDO:0004970 NCIT:C6380 NCIT:C2852 adenocarcinoma MONDO:0024336 vulvar adenocarcinoma MONDO:0005215 NCIT:C6380 NCIT:C4866 vulvar carcinoma +MONDO:0024337 urothelial neoplasm MONDO:0021066 NCIT:C39852 NCIT:C3431 urinary system neoplasm MONDO:0024337 urothelial neoplasm MONDO:0037254 NCIT:C39852 NCIT:C6783 transitional cell neoplasm MONDO:0024338 mucinous neoplasm MONDO:0024276 NCIT:C7070 NCIT:C7132 glandular cell neoplasm MONDO:0024339 lymph node neoplasm MONDO:0002334 NCIT:C35497 NCIT:C35813 hematopoietic and lymphoid system neoplasm MONDO:0024339 lymph node neoplasm MONDO:0004928 NCIT:C35497 NCIT:C35346 lymph node disorder MONDO:0024340 retinal neuroblastoma MONDO:0005072 NCIT:C6956 NCIT:C3270 neuroblastoma MONDO:0024341 retinal cell neoplasm MONDO:0021231 NCIT:C7061 NCIT:C4800 retina neoplasm +MONDO:0024352 viral respiratory tract infection MONDO:0005108 NCIT:C27219 NCIT:C3439 viral infectious disease +MONDO:0024354 cytomegalovirus pneumonia MONDO:0005132 NCIT:C35360 NCIT:C53649 cytomegalovirus infection MONDO:0024386 large cell lung carcinoma, clear cell variant MONDO:0003050 NCIT:C4451 NCIT:C4450 lung large cell carcinoma MONDO:0024387 benign ovarian sex cord-stromal tumor MONDO:0000646 NCIT:C6803 NCIT:C2895 ovarian benign neoplasm MONDO:0024387 benign ovarian sex cord-stromal tumor MONDO:0021657 NCIT:C6803 NCIT:C4862 ovarian sex cord-stromal tumor +MONDO:0024422 auditory perceptual disorders MONDO:0021945 NCIT:C84575 NCIT:C3078 hearing disorder +MONDO:0024429 Alice in Wonderland syndrome MONDO:0002254 NCIT:C116362 NCIT:C28193 syndromic disease MONDO:0024461 angiomatosis MONDO:0024286 NCIT:C27503 NCIT:C8537 benign blood vessel neoplasm MONDO:0024469 chondrogenic neoplasm MONDO:0002616 NCIT:C4755 NCIT:C7059 mesenchymal cell neoplasm MONDO:0024470 benign chondrogenic neoplasm MONDO:0024469 NCIT:C8592 NCIT:C4755 chondrogenic neoplasm @@ -3743,6 +5494,11 @@ MONDO:0024475 squamous cell intraepithelial neoplasia MONDO:0002532 NCIT:C8334 N MONDO:0024475 squamous cell intraepithelial neoplasia MONDO:0024474 NCIT:C8334 NCIT:C8366 intraepithelial neoplasia MONDO:0024477 liver and intrahepatic bile duct neoplasm MONDO:0002514 NCIT:C7103 NCIT:C8614 hepatobiliary neoplasm MONDO:0024477 liver and intrahepatic bile duct neoplasm MONDO:0005154 NCIT:C7103 NCIT:C3196 liver disorder +MONDO:0024478 mesenchymal hamartoma MONDO:0006499 NCIT:C40427 NCIT:C3075 hamartoma +MONDO:0024482 eccrine sweat gland hamartoma MONDO:0021539 NCIT:C5564 NCIT:C5562 hamartoma of skin appendage +MONDO:0024483 urothelial hyperplasia MONDO:0005043 NCIT:C27877 NCIT:C3113 hyperplasia +MONDO:0024485 papillary urothelial hyperplasia MONDO:0024483 NCIT:C27879 NCIT:C27877 urothelial hyperplasia +MONDO:0024496 tumor grade 2 or 3, general grading system MONDO:0024489 NCIT:C94678 NCIT:C28076 general tumor grading characteristic MONDO:0024499 vascular bone neoplasm MONDO:0019060 NCIT:C6478 NCIT:C9343 bone neoplasm MONDO:0024499 vascular bone neoplasm MONDO:0024296 NCIT:C6478 NCIT:C7388 vascular neoplasm MONDO:0024501 appendix neuroendocrine neoplasm MONDO:0001236 NCIT:C60709 NCIT:C4434 appendiceal neoplasm @@ -3750,12 +5506,20 @@ MONDO:0024502 gallbladder neuroendocrine neoplasm MONDO:0021253 NCIT:C96917 NCIT MONDO:0024502 gallbladder neuroendocrine neoplasm MONDO:0024503 NCIT:C96917 NCIT:C27721 digestive system neuroendocrine neoplasm MONDO:0024503 digestive system neuroendocrine neoplasm MONDO:0019496 NCIT:C27721 NCIT:C3809 neuroendocrine neoplasm MONDO:0024503 digestive system neuroendocrine neoplasm MONDO:0021223 NCIT:C27721 NCIT:C3052 digestive system neoplasm +MONDO:0024504 enterochromaffin cell serotonin-producing pancreatic neuroendocrine tumor MONDO:0021535 NCIT:C4446 NCIT:C95584 pancreatic neuroendocrine tumor G1 +MONDO:0024571 AIDS-related disorder MONDO:0024572 NCIT:C4991 NCIT:C35686 immunodeficiency-related disorder +MONDO:0024573 familial hypertrophic cardiomyopathy MONDO:0005045 NCIT:C84773 NCIT:C34449 hypertrophic cardiomyopathy MONDO:0024582 male reproductive system neoplasm MONDO:0003150 NCIT:C3054 NCIT:C27019 male reproductive system disorder MONDO:0024582 male reproductive system neoplasm MONDO:0006054 NCIT:C3054 NCIT:C3674 reproductive system neoplasm MONDO:0024609 vulvar squamous cell carcinoma MONDO:0002195 NCIT:C4052 NCIT:C40283 vulvar squamous neoplasm MONDO:0024609 vulvar squamous cell carcinoma MONDO:0005096 NCIT:C4052 NCIT:C2929 squamous cell carcinoma MONDO:0024609 vulvar squamous cell carcinoma MONDO:0005215 NCIT:C4052 NCIT:C4866 vulvar carcinoma +MONDO:0024612 manic bipolar affective disorder MONDO:0004985 NCIT:C34805 NCIT:C34423 bipolar disorder +MONDO:0024613 bipolar depression MONDO:0002050 NCIT:C34424 NCIT:C2982 depressive disorder +MONDO:0024613 bipolar depression MONDO:0004985 NCIT:C34424 NCIT:C34423 bipolar disorder +MONDO:0024614 neurotic depression MONDO:0002050 NCIT:C35369 NCIT:C2982 depressive disorder MONDO:0024615 T-cell and NK-cell neoplasm MONDO:0005157 NCIT:C27908 NCIT:C7065 lymphoid neoplasm +MONDO:0024619 central nervous system infectious disorder MONDO:0020010 NCIT:C27582 NCIT:C27590 infectious disorder of the nervous system MONDO:0024621 serous cystadenocarcinoma MONDO:0005278 NCIT:C3778 NCIT:C40101 serous adenocarcinoma MONDO:0024621 serous cystadenocarcinoma MONDO:0005596 NCIT:C3778 NCIT:C2971 cystadenocarcinoma MONDO:0024622 thyroid gland adenocarcinoma MONDO:0004970 NCIT:C27380 NCIT:C2852 adenocarcinoma @@ -3773,10 +5537,12 @@ MONDO:0024656 colorectal lymphoma MONDO:0004699 NCIT:C96498 NCIT:C38162 gastroin MONDO:0024656 colorectal lymphoma MONDO:0005575 NCIT:C96498 NCIT:C4978 colorectal cancer MONDO:0024658 extrahepatic bile duct sarcoma MONDO:0021321 NCIT:C5029 NCIT:C7483 malignant tumor of extrahepatic bile duct MONDO:0024662 colorectal tubulovillous adenoma MONDO:0024661 NCIT:C5675 NCIT:C4143 tubulovillous adenoma +MONDO:0024664 hypertension, pregnancy-induced MONDO:0024575 NCIT:C9243 NCIT:C35169 pregnancy disorder MONDO:0024666 benign epithelial skin neoplasm MONDO:0021440 NCIT:C7341 NCIT:C2896 benign neoplasm of skin MONDO:0024666 benign epithelial skin neoplasm MONDO:0021634 NCIT:C7341 NCIT:C7342 epithelial skin neoplasm MONDO:0024666 benign epithelial skin neoplasm MONDO:0036976 NCIT:C7341 NCIT:C4092 benign epithelial neoplasm MONDO:0024673 skin lymphangioma MONDO:0002013 NCIT:C27509 NCIT:C8965 lymphangioma +MONDO:0024674 Pancoast syndrome MONDO:0021058 NCIT:C55815 NCIT:C54705 neoplastic syndrome MONDO:0024675 adult kidney Wilms tumor MONDO:0019004 NCIT:C6180 NCIT:C40407 kidney Wilms tumor MONDO:0024676 childhood kidney Wilms tumor MONDO:0019004 NCIT:C27730 NCIT:C40407 kidney Wilms tumor MONDO:0024676 childhood kidney Wilms tumor MONDO:0036511 NCIT:C27730 NCIT:C123907 childhood malignant kidney neoplasm @@ -3814,14 +5580,32 @@ MONDO:0024885 malignant ovarian serous tumor MONDO:0037255 NCIT:C40025 NCIT:C843 MONDO:0024886 serous adenofibroma MONDO:0006071 NCIT:C67090 NCIT:C8984 adenofibroma MONDO:0024890 pineal parenchymal cell neoplasm MONDO:0021193 NCIT:C6965 NCIT:C3787 neuroepithelial neoplasm MONDO:0024890 pineal parenchymal cell neoplasm MONDO:0021232 NCIT:C6965 NCIT:C3328 pineal body neoplasm +MONDO:0024892 soft tissue amyloid neoplasm MONDO:0006424 NCIT:C8323 NCIT:C3377 soft tissue neoplasm MONDO:0024892 soft tissue amyloid neoplasm MONDO:0019065 NCIT:C8323 NCIT:C2868 amyloidosis +MONDO:0027766 generalized lipodystrophy MONDO:0006573 NCIT:C131815 NCIT:C97093 lipodystrophy +MONDO:0027767 partial lipodystrophy MONDO:0006573 NCIT:C131296 NCIT:C97093 lipodystrophy MONDO:0027772 lung colloid adenocarcinoma MONDO:0004957 NCIT:C45512 NCIT:C26712 mucinous adenocarcinoma MONDO:0027772 lung colloid adenocarcinoma MONDO:0005061 NCIT:C45512 NCIT:C3512 lung adenocarcinoma +MONDO:0028226 autosomal recessive severe congenital neutropenia MONDO:0018542 NCIT:C176624 NCIT:C166152 severe congenital neutropenia MONDO:0030604 cystic partially differentiated nephroblastoma MONDO:0004356 NCIT:C6897 NCIT:C6566 childhood multilocular cystic kidney neoplasm MONDO:0030604 cystic partially differentiated nephroblastoma MONDO:0024676 NCIT:C6897 NCIT:C27730 childhood kidney Wilms tumor -MONDO:0035112 acute myeloid leukemia with BCR-ABL1 MONDO:0018874 NCIT:C129785 NCIT:C3171 acute myeloid leukemia +MONDO:0030705 Trichomonas prostatitis MONDO:0002154 NCIT:C35176 NCIT:C35720 trichomoniasis +MONDO:0030705 Trichomonas prostatitis MONDO:0005280 NCIT:C35176 NCIT:C26866 prostatitis +MONDO:0030707 Trichomonas balanoposthitis MONDO:0002154 NCIT:C35406 NCIT:C35720 trichomoniasis +MONDO:0030708 Trichomonas cervicitis MONDO:0002154 NCIT:C35588 NCIT:C35720 trichomoniasis +MONDO:0031014 autoimmune gastritis MONDO:0004966 NCIT:C95752 NCIT:C26780 gastritis +MONDO:0032786 Noonan syndrome 11 MONDO:0018997 NCIT:C177119 NCIT:C34854 Noonan syndrome +MONDO:0032806 trichothiodystrophy 7, nonphotosensitive MONDO:0018053 NCIT:C173102 NCIT:C4924 trichothiodystrophy +MONDO:0032839 noonan syndrome 12 MONDO:0018997 NCIT:C177120 NCIT:C34854 Noonan syndrome +MONDO:0033669 Noonan syndrome 13 MONDO:0018997 NCIT:C177121 NCIT:C34854 Noonan syndrome +MONDO:0033954 monoclonal mast cell activation syndrome MONDO:0002254 NCIT:C181652 NCIT:C28193 syndromic disease +MONDO:0033954 monoclonal mast cell activation syndrome MONDO:0005046 NCIT:C181652 NCIT:C3507 immune system disorder MONDO:0035121 myeloid/lymphoid neoplasm associated with JAK2 rearrangement MONDO:0015688 NCIT:C129853 NCIT:C84270 myeloid/lymphoid neoplasms associated with eosinophilia and abnormality of PDGFRA, PDGFRB, FGFR1 or JAK2 MONDO:0035642 mixed phenotype acute leukemia with t(v;11q23.3) MONDO:0020743 NCIT:C82203 NCIT:C82179 mixed phenotype acute leukemia +MONDO:0035737 acquired factor V deficiency MONDO:0020586 NCIT:C131624 NCIT:C131738 factor V deficiency +MONDO:0035737 acquired factor V deficiency MONDO:0020599 NCIT:C131624 NCIT:C34347 acquired coagulation factor deficiency +MONDO:0035738 acquired factor VII deficiency MONDO:0020599 NCIT:C131625 NCIT:C34347 acquired coagulation factor deficiency +MONDO:0035740 acquired factor XI deficiency MONDO:0020587 NCIT:C131627 NCIT:C131739 factor XI deficiency MONDO:0035940 B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) MONDO:0035605 NCIT:C80331 NCIT:C80328 B-lymphoblastic leukemia/lymphoma with recurrent genetic abnormality MONDO:0035941 B-lymphoblastic leukemia/lymphoma with t(v;11q23.3) MONDO:0035605 NCIT:C80332 NCIT:C80328 B-lymphoblastic leukemia/lymphoma with recurrent genetic abnormality MONDO:0035942 B-lymphoblastic leukemia/lymphoma with t(12;21)(p13.2;q22.1) MONDO:0035605 NCIT:C80334 NCIT:C80328 B-lymphoblastic leukemia/lymphoma with recurrent genetic abnormality @@ -3831,6 +5615,7 @@ MONDO:0035945 B-lymphoblastic leukemia/lymphoma with t(5;14)(q31.1;q32.3) MONDO: MONDO:0036501 refractory malignant neoplasm MONDO:0004992 NCIT:C120186 NCIT:C9305 cancer MONDO:0036511 childhood malignant kidney neoplasm MONDO:0002367 NCIT:C123907 NCIT:C7548 kidney cancer MONDO:0036511 childhood malignant kidney neoplasm MONDO:0002730 NCIT:C123907 NCIT:C6563 childhood kidney neoplasm +MONDO:0036511 childhood malignant kidney neoplasm MONDO:0006517 NCIT:C123907 NCIT:C4005 childhood malignant neoplasm MONDO:0036591 adrenal cortex neoplasm MONDO:0021227 NCIT:C2858 NCIT:C2859 adrenal gland neoplasm MONDO:0036595 ovarian Sertoli-Leydig cell tumor MONDO:0020807 NCIT:C2880 NCIT:C39966 ovarian sertoli-stromal cell tumor MONDO:0036688 rhabdomyoma MONDO:0003061 NCIT:C3358 NCIT:C4882 benign muscle neoplasm @@ -3850,6 +5635,7 @@ MONDO:0037003 malignant phyllodes tumor MONDO:0005078 NCIT:C4275 NCIT:C2977 phyl MONDO:0037003 malignant phyllodes tumor MONDO:0005853 NCIT:C4275 NCIT:C3729 malignant mixed neoplasm MONDO:0037105 lung germ cell tumor MONDO:0018201 NCIT:C45636 NCIT:C3918 extragonadal germ cell tumor MONDO:0037105 lung germ cell tumor MONDO:0021117 NCIT:C45636 NCIT:C3200 lung neoplasm +MONDO:0037250 childhood testicular neoplasm MONDO:0021079 NCIT:C5053 NCIT:C6283 childhood neoplasm MONDO:0037250 childhood testicular neoplasm MONDO:0021348 NCIT:C5053 NCIT:C3404 neoplasm of testis MONDO:0037253 ovarian thecoma MONDO:0037252 NCIT:C66989 NCIT:C3405 thecoma MONDO:0037254 transitional cell neoplasm MONDO:0005626 NCIT:C6783 NCIT:C3709 epithelial neoplasm @@ -3868,20 +5654,78 @@ MONDO:0037743 mediastinal soft tissue cancer MONDO:0005843 NCIT:C6642 NCIT:C3549 MONDO:0037743 mediastinal soft tissue cancer MONDO:0024637 NCIT:C6642 NCIT:C4867 malignant soft tissue neoplasm MONDO:0037746 malignant vaginal mixed epithelial and mesenchymal neoplasm MONDO:0001402 NCIT:C40276 NCIT:C7410 vaginal cancer MONDO:0037746 malignant vaginal mixed epithelial and mesenchymal neoplasm MONDO:0005853 NCIT:C40276 NCIT:C3729 malignant mixed neoplasm +MONDO:0037748 hyperlipoproteinemia MONDO:0005066 NCIT:C34709 NCIT:C3235 metabolic disease +MONDO:0037858 inherited fatty acid metabolism disorder MONDO:0002525 NCIT:C117115 NCIT:C97092 inherited lipid metabolism disorder MONDO:0040673 malignant peritoneal germ cell tumor MONDO:0002087 NCIT:C136410 NCIT:C3538 peritoneum cancer MONDO:0040673 malignant peritoneal germ cell tumor MONDO:0003113 NCIT:C136410 NCIT:C8881 extragonadal germ cell cancer MONDO:0040677 invasive carcinoma MONDO:0004993 NCIT:C9480 NCIT:C2916 carcinoma MONDO:0040678 infiltrating urothelial carcinoma MONDO:0040677 NCIT:C39853 NCIT:C9480 invasive carcinoma MONDO:0040679 urothelial carcinoma MONDO:0006474 NCIT:C4030 NCIT:C2930 transitional cell carcinoma MONDO:0040679 urothelial carcinoma MONDO:0024337 NCIT:C4030 NCIT:C39852 urothelial neoplasm +MONDO:0040923 late latent syphilis MONDO:0005822 NCIT:C128371 NCIT:C35056 latent syphilis +MONDO:0042233 disseminated candidiasis MONDO:0002026 NCIT:C116812 NCIT:C26711 candidiasis +MONDO:0042485 infective arthritis MONDO:0005578 NCIT:C26700 NCIT:C2883 arthritic joint disease MONDO:0042491 cervical squamous intraepithelial neoplasia MONDO:0022394 NCIT:C7346 NCIT:C3782 cervical intraepithelial neoplasia MONDO:0042491 cervical squamous intraepithelial neoplasia MONDO:0024475 NCIT:C7346 NCIT:C8334 squamous cell intraepithelial neoplasia MONDO:0042493 gastric non-hodgkin lymphoma MONDO:0001059 NCIT:C27235 NCIT:C4636 gastric lymphoma MONDO:0042494 childhood malignant melanoma MONDO:0005105 NCIT:C131506 NCIT:C3224 melanoma +MONDO:0042727 sacrococcygeal teratoma MONDO:0002601 NCIT:C99055 NCIT:C3403 teratoma +MONDO:0042976 vitamin B deficiency MONDO:0024298 NCIT:C35129 NCIT:C35772 vitamin deficiency disorder +MONDO:0042982 GATA2 deficiency with susceptibility to MDS/AML MONDO:0021094 NCIT:C126349 NCIT:C3131 immunodeficiency disease +MONDO:0043103 hypothyroidism due to iodide transport defect MONDO:0018612 NCIT:C121747 NCIT:C26734 congenital hypothyroidism +MONDO:0043218 neurovascular disorder MONDO:0005071 NCIT:C117007 NCIT:C26835 nervous system disorder +MONDO:0043224 multi-infarct dementia MONDO:0004648 NCIT:C34522 NCIT:C34525 vascular dementia +MONDO:0043240 hemophilic arthropathy MONDO:0005578 NCIT:C27039 NCIT:C2883 arthritic joint disease +MONDO:0043243 leukoplakia MONDO:0021074 NCIT:C3186 NCIT:C3341 precancerous condition +MONDO:0043247 Mallory-Weiss syndrome MONDO:0002254 NCIT:C84881 NCIT:C28193 syndromic disease +MONDO:0043251 odontoma MONDO:0006499 NCIT:C3287 NCIT:C3075 hamartoma +MONDO:0043287 superior vena cava syndrome MONDO:0002254 NCIT:C3396 NCIT:C28193 syndromic disease +MONDO:0043294 linear scleroderma MONDO:0019562 NCIT:C116780 NCIT:C72069 localized scleroderma +MONDO:0043300 actinic cheilitis MONDO:0002102 NCIT:C183562 NCIT:C79545 cheilitis +MONDO:0043303 hyperacusis MONDO:0024422 NCIT:C116366 NCIT:C84575 auditory perceptual disorders +MONDO:0043320 piriformis syndrome MONDO:0002254 NCIT:C85012 NCIT:C28193 syndromic disease +MONDO:0043355 collagenous gastritis MONDO:0004966 NCIT:C122082 NCIT:C26780 gastritis +MONDO:0043370 secondary adrenal insufficiency MONDO:0000004 NCIT:C62602 NCIT:C26691 adrenocortical insufficiency +MONDO:0043455 humoral hypercalcemia of malignancy MONDO:0001566 NCIT:C3496 NCIT:C3112 hypercalcemia disease +MONDO:0043468 acne keloid MONDO:0005348 NCIT:C34346 NCIT:C3145 keloid +MONDO:0043475 Adams-Stokes syndrome MONDO:0002254 NCIT:C79765 NCIT:C28193 syndromic disease +MONDO:0043494 arteritis MONDO:0000473 NCIT:C34399 NCIT:C35317 arterial disorder +MONDO:0043494 arteritis MONDO:0018882 NCIT:C34399 NCIT:C26912 vasculitis +MONDO:0043519 burn MONDO:0021178 NCIT:C34441 NCIT:C3671 injury +MONDO:0043537 cluster headache syndrome MONDO:0015530 NCIT:C117077 NCIT:C117074 trigeminal autonomic cephalalgia +MONDO:0043544 nosocomial infection MONDO:0005550 NCIT:C115164 NCIT:C26726 infectious disease +MONDO:0043576 endarteritis MONDO:0043494 NCIT:C34581 NCIT:C34399 arteritis +MONDO:0043683 Leriche syndrome MONDO:0002254 NCIT:C34773 NCIT:C28193 syndromic disease +MONDO:0043726 multiple organ dysfunction syndrome MONDO:0002254 NCIT:C179648 NCIT:C28193 syndromic disease +MONDO:0043735 osteoradionecrosis MONDO:0005380 NCIT:C63707 NCIT:C34880 osteonecrosis +MONDO:0043759 abdominal ectopic pregnancy MONDO:0000755 NCIT:C92921 NCIT:C34945 ectopic pregnancy +MONDO:0043762 tubal pregnancy MONDO:0000755 NCIT:C92946 NCIT:C34945 ectopic pregnancy +MONDO:0043765 presbycusis MONDO:0005365 NCIT:C116367 NCIT:C35731 hearing loss disorder +MONDO:0043771 radiodermatitis MONDO:0002406 NCIT:C3349 NCIT:C2983 dermatitis +MONDO:0043789 serum sickness MONDO:0002459 NCIT:C79718 NCIT:C3115 type IV hypersensitivity disease +MONDO:0043875 tumor lysis syndrome MONDO:0021058 NCIT:C3425 NCIT:C54705 neoplastic syndrome +MONDO:0043923 lichen planus, oral MONDO:0006572 NCIT:C7406 NCIT:C3189 lichen planus +MONDO:0043994 acute cholecystitis MONDO:0002155 NCIT:C35152 NCIT:C34465 cholecystitis +MONDO:0044001 hearing loss, mixed conductive-sensorineural MONDO:0005365 NCIT:C26974 NCIT:C35731 hearing loss disorder +MONDO:0044033 posterior leukoencephalopathy syndrome MONDO:0002254 NCIT:C78598 NCIT:C28193 syndromic disease +MONDO:0044067 candidiasis, invasive MONDO:0002026 NCIT:C116813 NCIT:C26711 candidiasis +MONDO:0044079 cardio-renal syndrome MONDO:0002254 NCIT:C123225 NCIT:C28193 syndromic disease +MONDO:0044098 ovarian ectopic pregnancy MONDO:0000755 NCIT:C92945 NCIT:C34945 ectopic pregnancy +MONDO:0044101 pregnancy, cornual MONDO:0000755 NCIT:C92761 NCIT:C34945 ectopic pregnancy +MONDO:0044113 bullous systemic lupus erythematosus MONDO:0007915 NCIT:C117104 NCIT:C3201 systemic lupus erythematosus +MONDO:0044137 vitreous body disorder MONDO:0005328 NCIT:C45256 NCIT:C26767 eye disorder +MONDO:0044138 hyalitis MONDO:0044137 NCIT:C50587 NCIT:C45256 vitreous body disorder +MONDO:0044333 alcohol-induced Wernicke-Korsakoff's syndrome MONDO:0010198 NCIT:C34366 NCIT:C35764 Wernicke-Korsakoff syndrome MONDO:0044335 benign soft tissue neoplasm MONDO:0000654 NCIT:C4242 NCIT:C53684 benign connective and soft tissue neoplasm MONDO:0044335 benign soft tissue neoplasm MONDO:0006424 NCIT:C4242 NCIT:C3377 soft tissue neoplasm MONDO:0044336 colorectal signet ring cell carcinoma MONDO:0005092 NCIT:C43586 NCIT:C3774 signet ring cell carcinoma MONDO:0044337 stromal sarcoma MONDO:0018078 NCIT:C6926 NCIT:C9306 soft tissue sarcoma +MONDO:0044339 lumbar disk degenerative disorder MONDO:0011385 NCIT:C27154 NCIT:C26983 intervertebral disk degenerative disorder +MONDO:0044342 thoracic disk degenerative disorder MONDO:0011385 NCIT:C27155 NCIT:C26983 intervertebral disk degenerative disorder +MONDO:0044343 cervical disk degenerative disorder MONDO:0011385 NCIT:C27156 NCIT:C26983 intervertebral disk degenerative disorder +MONDO:0044344 Schistosoma japonicum infectious disease MONDO:0015254 NCIT:C35001 NCIT:C35000 schistosomiasis +MONDO:0044345 Schistosoma mansoni infectious disease MONDO:0015254 NCIT:C35002 NCIT:C35000 schistosomiasis +MONDO:0044351 Schistosoma intercalatum infectious disease MONDO:0015254 NCIT:C35364 NCIT:C35000 schistosomiasis MONDO:0044638 hypopharynx squamous cell carcinoma MONDO:0000536 NCIT:C4043 NCIT:C102872 pharyngeal squamous cell carcinoma MONDO:0044638 hypopharynx squamous cell carcinoma MONDO:0005216 NCIT:C4043 NCIT:C9465 hypopharyngeal carcinoma MONDO:0044704 oropharynx squamous cell carcinoma MONDO:0000536 NCIT:C8181 NCIT:C102872 pharyngeal squamous cell carcinoma @@ -3894,11 +5738,14 @@ MONDO:0044727 pancreatic carcinoma with mixed differentiation MONDO:0006182 NCIT MONDO:0044740 salivary gland squamous cell carcinoma MONDO:0000521 NCIT:C7991 NCIT:C9272 salivary gland carcinoma MONDO:0044743 major salivary gland cancer MONDO:0004669 NCIT:C4762 NCIT:C3811 salivary gland cancer MONDO:0044743 major salivary gland cancer MONDO:0021368 NCIT:C4762 NCIT:C4407 neoplasm of major salivary gland +MONDO:0044753 lumbar spinal stenosis MONDO:0005965 NCIT:C177445 NCIT:C177444 spinal stenosis MONDO:0044764 benign choroid plexus neoplasm MONDO:0016717 NCIT:C8405 NCIT:C3473 choroid plexus neoplasm MONDO:0044764 benign choroid plexus neoplasm MONDO:0021451 NCIT:C8405 NCIT:C4781 benign neoplasm of brain +MONDO:0044765 steroid-resistant nephrotic syndrome MONDO:0005377 NCIT:C122798 NCIT:C34845 nephrotic syndrome MONDO:0044767 childhood adrenal gland pheochromocytoma MONDO:0004974 NCIT:C118822 NCIT:C3326 adrenal gland pheochromocytoma MONDO:0044768 vagus nerve paraganglioma MONDO:0001608 NCIT:C8427 NCIT:C5831 vagus nerve neoplasm MONDO:0044768 vagus nerve paraganglioma MONDO:0006239 NCIT:C8427 NCIT:C5327 head and neck paraganglioma +MONDO:0044778 nodular lymphocyte predominant Hodgkin lymphoma MONDO:0004952 NCIT:C7258 NCIT:C9357 Hodgkins lymphoma MONDO:0044783 solid papillary breast carcinoma MONDO:0003532 NCIT:C6870 NCIT:C9134 breast papillary carcinoma MONDO:0044785 desmoplastic melanoma MONDO:0006427 NCIT:C37257 NCIT:C4237 spindle cell melanoma MONDO:0044786 solid pseudopapillary neoplasm of the pancreas MONDO:0002116 NCIT:C37212 NCIT:C7430 malignant exocrine pancreas neoplasm @@ -3913,7 +5760,15 @@ MONDO:0044796 spindle cell nevus MONDO:0044793 NCIT:C66758 NCIT:C27007 spitz nev MONDO:0044797 desmoplastic nevus MONDO:0044794 NCIT:C4497 NCIT:C7571 benign melanocytic skin nevus MONDO:0044800 desmoplastic spitz nevus MONDO:0044793 NCIT:C82864 NCIT:C27007 spitz nevus MONDO:0044800 desmoplastic spitz nevus MONDO:0044797 NCIT:C82864 NCIT:C4497 desmoplastic nevus +MONDO:0044807 inherited dystonia MONDO:0003441 NCIT:C35527 NCIT:C34563 dystonic disorder +MONDO:0044811 idiopathic torsion dystonia MONDO:0003441 NCIT:C34564 NCIT:C34563 dystonic disorder +MONDO:0044816 familial idiopathic torsion dystonia MONDO:0044807 NCIT:C35437 NCIT:C35527 inherited dystonia +MONDO:0044816 familial idiopathic torsion dystonia MONDO:0044811 NCIT:C35437 NCIT:C34564 idiopathic torsion dystonia +MONDO:0044817 acquired idiopathic torsion dystonia MONDO:0044811 NCIT:C35438 NCIT:C34564 idiopathic torsion dystonia MONDO:0044873 childhood myelodysplastic syndrome MONDO:0018881 NCIT:C68744 NCIT:C3247 myelodysplastic syndrome +MONDO:0044874 refractory cytopenia of childhood MONDO:0044873 NCIT:C82596 NCIT:C68744 childhood myelodysplastic syndrome +MONDO:0044876 drug hypersensitivity syndrome MONDO:0002254 NCIT:C112208 NCIT:C28193 syndromic disease +MONDO:0044877 paraneoplastic cerebellar degeneration MONDO:0022687 NCIT:C4685 NCIT:C84624 cerebellar degeneration MONDO:0044878 adult germ cell tumor MONDO:0005040 NCIT:C114777 NCIT:C3708 germ cell tumor MONDO:0044879 pancreatic mucinous-cystic neoplasm MONDO:0024338 NCIT:C41247 NCIT:C7070 mucinous neoplasm MONDO:0044881 hematopoietic and lymphoid cell neoplasm MONDO:0002334 NCIT:C27134 NCIT:C35813 hematopoietic and lymphoid system neoplasm @@ -3937,6 +5792,8 @@ MONDO:0044917 T-lymphoblastic lymphoma MONDO:0000873 NCIT:C6919 NCIT:C9360 lymph MONDO:0044917 T-lymphoblastic lymphoma MONDO:0003537 NCIT:C6919 NCIT:C8694 precursor T-lymphoblastic lymphoma/leukemia MONDO:0044919 malignant renal pelvis neoplasm MONDO:0002367 NCIT:C7525 NCIT:C7548 kidney cancer MONDO:0044919 malignant renal pelvis neoplasm MONDO:0003719 NCIT:C7525 NCIT:C8404 renal pelvis neoplasm +MONDO:0044921 atypical lymphoproliferative disorder MONDO:0016537 NCIT:C7764 NCIT:C9308 lymphoproliferative syndrome +MONDO:0044921 atypical lymphoproliferative disorder MONDO:0060782 NCIT:C7764 NCIT:C27274 premalignant hematological system disease MONDO:0044925 oral cavity carcinoma MONDO:0005515 NCIT:C8990 NCIT:C9314 oral cavity cancer MONDO:0044925 oral cavity carcinoma MONDO:0023644 NCIT:C8990 NCIT:C9315 lip and oral cavity carcinoma MONDO:0044926 oropharyngeal carcinoma MONDO:0004608 NCIT:C9105 NCIT:C7398 oropharynx cancer @@ -3949,11 +5806,16 @@ MONDO:0044964 oral cavity mucoepidermoid carcinoma MONDO:0003036 NCIT:C8177 NCIT MONDO:0044964 oral cavity mucoepidermoid carcinoma MONDO:0044925 NCIT:C8177 NCIT:C8990 oral cavity carcinoma MONDO:0044983 benign lipomatous neoplasm MONDO:0000654 NCIT:C4502 NCIT:C53684 benign connective and soft tissue neoplasm MONDO:0044983 benign lipomatous neoplasm MONDO:0021354 NCIT:C4502 NCIT:C4248 tumor of adipose tissue +MONDO:0045048 toxemia of pregnancy MONDO:0024664 NCIT:C34943 NCIT:C9243 hypertension, pregnancy-induced +MONDO:0045050 nuclear cataract MONDO:0005129 NCIT:C135176 NCIT:C26713 cataract +MONDO:0045051 cortical cataract MONDO:0005129 NCIT:C135177 NCIT:C26713 cataract MONDO:0045052 benign osteogenic neoplasm MONDO:0000654 NCIT:C6602 NCIT:C53684 benign connective and soft tissue neoplasm MONDO:0045052 benign osteogenic neoplasm MONDO:0045053 NCIT:C6602 NCIT:C6603 osteogenic neoplasm MONDO:0045053 osteogenic neoplasm MONDO:0002616 NCIT:C6603 NCIT:C7059 mesenchymal cell neoplasm MONDO:0045055 glycogen-rich carcinoma MONDO:0004993 NCIT:C4153 NCIT:C2916 carcinoma MONDO:0045056 grade II meningioma MONDO:0016642 NCIT:C38937 NCIT:C3230 meningioma +MONDO:0045057 delirium MONDO:0002039 NCIT:C2981 NCIT:C92196 cognitive disorder +MONDO:0045060 intraductal cribriform breast adenocarcinoma MONDO:0005023 NCIT:C5138 NCIT:C2924 ductal breast carcinoma in situ MONDO:0045063 major salivary gland adenoid cystic carcinoma MONDO:0003175 NCIT:C5905 NCIT:C8026 salivary gland adenoid cystic carcinoma MONDO:0045063 major salivary gland adenoid cystic carcinoma MONDO:0006284 NCIT:C5905 NCIT:C5907 major salivary gland carcinoma MONDO:0045068 minor salivary gland adenoid cystic carcinoma MONDO:0003175 NCIT:C5936 NCIT:C8026 salivary gland adenoid cystic carcinoma @@ -3961,6 +5823,11 @@ MONDO:0045069 minor salivary gland carcinoma MONDO:0000521 NCIT:C5957 NCIT:C9272 MONDO:0045069 minor salivary gland carcinoma MONDO:0021316 NCIT:C5957 NCIT:C4410 malignant tumor of minor salivary gland MONDO:0045070 digestive system melanoma MONDO:0002516 NCIT:C7091 NCIT:C4890 digestive system cancer MONDO:0045071 mycosis fungoides variant MONDO:0000607 NCIT:C39644 NCIT:C3467 primary cutaneous T-cell non-Hodgkin lymphoma +MONDO:0045072 ectopic hormone secretion syndrome associated with neoplasia MONDO:0021058 NCIT:C4065 NCIT:C54705 neoplastic syndrome +MONDO:0054588 Noonan syndrome-like disorder with loose anagen hair 2 MONDO:0011899 NCIT:C176940 NCIT:C178129 Noonan syndrome-like disorder with loose anagen hair +MONDO:0054637 Noonan syndrome-like disorder with loose anagen hair 1 MONDO:0011899 NCIT:C176939 NCIT:C178129 Noonan syndrome-like disorder with loose anagen hair +MONDO:0054697 immunodeficiency 11b with atopic dermatitis MONDO:0021094 NCIT:C176630 NCIT:C3131 immunodeficiency disease +MONDO:0054868 meconium ileus MONDO:0004567 NCIT:C98979 NCIT:C37979 ileus MONDO:0056805 benign peripheral nerve granular cell tumor MONDO:0003250 NCIT:C5502 NCIT:C3252 benign granular cell tumor MONDO:0056806 non-small cell squamous lung carcinoma MONDO:0005097 NCIT:C133254 NCIT:C3493 squamous cell lung carcinoma MONDO:0056806 non-small cell squamous lung carcinoma MONDO:0005233 NCIT:C133254 NCIT:C2926 non-small cell lung carcinoma @@ -3971,17 +5838,46 @@ MONDO:0056817 rectal adenosquamous carcinoma MONDO:0006157 NCIT:C43594 NCIT:C435 MONDO:0056818 skin adenosquamous carcinoma MONDO:0006074 NCIT:C54250 NCIT:C3727 adenosquamous carcinoma MONDO:0056819 nasal cavity and paranasal sinus carcinoma MONDO:0002038 NCIT:C54293 NCIT:C35850 head and neck carcinoma MONDO:0056820 nasal cavity and paranasal sinus neoplasm MONDO:0005586 NCIT:C7336 NCIT:C3077 head and neck neoplasm +MONDO:0060765 fibroepithelial polyp MONDO:0005079 NCIT:C3337 NCIT:C3340 polyp +MONDO:0060766 anal polyp MONDO:0002519 NCIT:C3957 NCIT:C26695 anus disorder +MONDO:0060766 anal polyp MONDO:0024292 NCIT:C3957 NCIT:C35516 gastrointestinal polyp +MONDO:0060768 gingival fibroepithelial polyp MONDO:0003396 NCIT:C4693 NCIT:C3948 epulis +MONDO:0060768 gingival fibroepithelial polyp MONDO:0060765 NCIT:C4693 NCIT:C3337 fibroepithelial polyp +MONDO:0060774 vaginal fibroepithelial polyp MONDO:0021394 NCIT:C4948 NCIT:C3664 polyp of vagina +MONDO:0060774 vaginal fibroepithelial polyp MONDO:0060765 NCIT:C4948 NCIT:C3337 fibroepithelial polyp +MONDO:0060777 cervical fibroepithelial polyp MONDO:0000751 NCIT:C40200 NCIT:C2939 cervical polyp +MONDO:0060777 cervical fibroepithelial polyp MONDO:0060765 NCIT:C40200 NCIT:C3337 fibroepithelial polyp +MONDO:0060778 adult Fanconi syndrome MONDO:0001083 NCIT:C4377 NCIT:C3034 Fanconi renotubular syndrome +MONDO:0060779 acquired Fanconi syndrome MONDO:0001083 NCIT:C78296 NCIT:C3034 Fanconi renotubular syndrome +MONDO:0060782 premalignant hematological system disease MONDO:0005570 NCIT:C27274 NCIT:C26323 hematologic disorder +MONDO:0060783 classic congenital adrenal hyperplasia MONDO:0018479 NCIT:C131423 NCIT:C34360 congenital adrenal hyperplasia +MONDO:0100053 anaphylaxis MONDO:0000605 NCIT:C107101 NCIT:C3114 hypersensitivity reaction disease MONDO:0100055 intraosseous spindle cell rhabdomyosarcoma with TFCP2/NCOA2 rearrangements MONDO:0002581 NCIT:C178236 NCIT:C6519 spindle cell rhabdomyosarcoma MONDO:0100060 congenital/infantile spindle cell rhabdomyosarcoma with VGLL2/NCOA2/CITED2 rearrangements MONDO:0002581 NCIT:C178232 NCIT:C6519 spindle cell rhabdomyosarcoma MONDO:0100067 childhood spindle cell rhabdomyosarcoma MONDO:0002581 NCIT:C123397 NCIT:C6519 spindle cell rhabdomyosarcoma +MONDO:0100115 acute flaccid myelitis MONDO:0002565 NCIT:C128379 NCIT:C26832 myelitis +MONDO:0100151 nephropathic cystinosis MONDO:0016239 NCIT:C129932 NCIT:C2976 cystinosis +MONDO:0100164 permanent neonatal diabetes mellitus MONDO:0016391 NCIT:C114902 NCIT:C99248 neonatal diabetes mellitus +MONDO:0100250 46,XX sex reversal 1 MONDO:0100249 NCIT:C179867 NCIT:C127170 46,XX testicular disorder of sex development +MONDO:0100251 familial hyperphosphatemic tumoral calcinosis/hyperphosphatemic hyperostosis syndrome MONDO:0019052 NCIT:C131851 NCIT:C34816 inborn errors of metabolism MONDO:0100280 Waldenstrom macroglobulinemia MONDO:0000432 NCIT:C80307 NCIT:C3212 lymphoplasmacytic lymphoma +MONDO:0100285 extrahepatic biliary atresia MONDO:0008867 NCIT:C97069 NCIT:C34421 biliary atresia MONDO:0100290 colon serrated polyposis MONDO:0015524 NCIT:C96470 NCIT:C165469 hyperplastic polyposis syndrome MONDO:0100290 colon serrated polyposis MONDO:0021400 NCIT:C96470 NCIT:C2954 polyp of colon MONDO:0100291 early T cell progenitor acute lymphoblastic leukemia MONDO:0004963 NCIT:C130043 NCIT:C3183 T-cell acute lymphoblastic leukemia MONDO:0100342 malignant glioma MONDO:0002714 NCIT:C4822 NCIT:C4627 central nervous system cancer MONDO:0100342 malignant glioma MONDO:0021042 NCIT:C4822 NCIT:C3059 glioma +MONDO:0100345 lactose intolerance MONDO:0019214 NCIT:C3154 NCIT:C97089 inborn carbohydrate metabolic disorder +MONDO:0100345 lactose intolerance MONDO:0020598 NCIT:C3154 NCIT:C3214 malabsorption syndrome MONDO:0100409 acute myeloid leukemia, t(3;5)(q25;q34) MONDO:0018874 NCIT:C7600 NCIT:C3171 acute myeloid leukemia +MONDO:0100431 migraine without aura MONDO:0005277 NCIT:C117004 NCIT:C89715 migraine disorder +MONDO:0100471 vitamin D deficiency MONDO:0024298 NCIT:C114830 NCIT:C35772 vitamin deficiency disorder +MONDO:0100480 autoimmune primary adrenal insufficiency MONDO:0015129 NCIT:C113814 NCIT:C26689 chronic primary adrenal insufficiency +MONDO:0100492 Bonnevie-Ullrich syndrome MONDO:0002254 NCIT:C34434 NCIT:C28193 syndromic disease +MONDO:0100505 food dermatitis MONDO:0002406 NCIT:C34534 NCIT:C2983 dermatitis MONDO:0100514 familial ovarian carcinoma MONDO:0005140 NCIT:C36102 NCIT:C4908 ovarian carcinoma +MONDO:0700048 hand-foot syndrome MONDO:0002254 NCIT:C27177 NCIT:C28193 syndromic disease +MONDO:0700051 liver abscess (disease) MONDO:0005227 NCIT:C99089 NCIT:C26686 abscess MONDO:0700135 bovine leukemia MONDO:0700134 NCIT:C131469 NCIT:C134527 bovine neoplasm MONDO:0700136 bovine protoporphyria MONDO:0700134 NCIT:C131472 NCIT:C134527 bovine neoplasm MONDO:0700137 bovine lymphosarcoma MONDO:0700134 NCIT:C134767 NCIT:C134527 bovine neoplasm @@ -3990,7 +5886,6 @@ MONDO:0700141 canine melanoma MONDO:0700139 NCIT:C120298 NCIT:C134526 canine neo MONDO:0700143 canine mammary carcinoma MONDO:0700139 NCIT:C124249 NCIT:C134526 canine neoplasm MONDO:0700144 canine leukemia MONDO:0700139 NCIT:C128120 NCIT:C134526 canine neoplasm MONDO:0700145 canine lymphoma MONDO:0700139 NCIT:C128121 NCIT:C134526 canine neoplasm -MONDO:0700146 canine prostate carcinoma MONDO:0700139 NCIT:C128122 NCIT:C134526 canine neoplasm MONDO:0700147 canine histiocytic sarcoma MONDO:0700139 NCIT:C128125 NCIT:C134526 canine neoplasm MONDO:0700148 canine transitional cell carcinoma MONDO:0700139 NCIT:C128126 NCIT:C134526 canine neoplasm MONDO:0700149 canine sarcoma MONDO:0700139 NCIT:C128195 NCIT:C134526 canine neoplasm @@ -4014,4 +5909,11 @@ MONDO:0700191 chicken fibrosarcoma MONDO:0700189 NCIT:C134557 NCIT:C135005 chick MONDO:0700192 chicken hepatoma MONDO:0700189 NCIT:C134558 NCIT:C135005 chicken neoplasm MONDO:0700193 chicken monocytic leukemia MONDO:0700189 NCIT:C134945 NCIT:C135005 chicken neoplasm MONDO:0700194 chicken lymphoma MONDO:0700189 NCIT:C135004 NCIT:C135005 chicken neoplasm +MONDO:0700218 group B streptococcal infection MONDO:0021680 NCIT:C87168 NCIT:C87062 streptococcal infection +MONDO:0800026 central hypoventilation syndrome, congenital, 1, with or without Hirschsprung disease MONDO:0002254 NCIT:C98889 NCIT:C28193 syndromic disease +MONDO:0800029 interstitial lung disease 2 MONDO:0002771 NCIT:C35716 NCIT:C26869 pulmonary fibrosis +MONDO:0800113 necrotizing vasculitis MONDO:0018882 NCIT:C70635 NCIT:C26912 vasculitis +MONDO:0800177 frostbite MONDO:0021178 NCIT:C34627 NCIT:C3671 injury MONDO:0858921 EWSR1-negative small round cell tumor MONDO:0006974 NCIT:C165671 NCIT:C3746 small cell sarcoma +MONDO:8000010 antiphospholipid syndrome MONDO:0002254 NCIT:C61283 NCIT:C28193 syndromic disease +MONDO:8000023 type 3 autoimmune lymphoproliferative syndrome MONDO:0017979 NCIT:C39577 NCIT:C37864 autoimmune lymphoproliferative syndrome diff --git a/src/ontology/reports/ordo.subclass.added-obsolete.robot.tsv b/src/ontology/reports/ordo.subclass.added-obsolete.robot.tsv index 9356bf19..0307a82a 100644 --- a/src/ontology/reports/ordo.subclass.added-obsolete.robot.tsv +++ b/src/ontology/reports/ordo.subclass.added-obsolete.robot.tsv @@ -1,13610 +1,61 @@ subject_mondo_id subject_mondo_label object_mondo_id subject_source_id object_source_id object_mondo_label -ID AI MONDO:excluded_subClassOf >A oboInOwl:source +ID AI obo:mondo#excluded_subClassOf >A oboInOwl:source MONDO:0000001 disease MONDO:8000034 Orphanet:377788 Orphanet:557493 obsolete disorder -MONDO:0000023 infantile liver failure MONDO:0015114 Orphanet:464724 Orphanet:101939 obsolete rare parenchymal liver disease -MONDO:0000023 infantile liver failure MONDO:0015508 Orphanet:464724 Orphanet:156604 obsolete hereditary parenchymatous liver disease -MONDO:0000044 hereditary hypophosphatemic rickets MONDO:0019744 Orphanet:437 Orphanet:93603 obsolete rare renal tubular disease -MONDO:0000087 polymicrogyria MONDO:0015572 Orphanet:35981 Orphanet:163209 obsolete cerebral malformation due to abnormal neuronal migration -MONDO:0000087 polymicrogyria MONDO:0035863 Orphanet:35981 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0000088 precocious puberty MONDO:0019590 Orphanet:95708 Orphanet:90692 obsolete rare endocrine growth disease -MONDO:0000107 auriculocondylar syndrome MONDO:0015334 Orphanet:137888 Orphanet:139036 obsolete branchial arch or oral-acral syndrome -MONDO:0000107 auriculocondylar syndrome MONDO:0015482 Orphanet:137888 Orphanet:155896 obsolete otomandibular dysplasia -MONDO:0000107 auriculocondylar syndrome MONDO:0026189 Orphanet:137888 Orphanet:183576 obsolete genetic branchial arch or oral-acral syndrome -MONDO:0000107 auriculocondylar syndrome MONDO:8000032 Orphanet:137888 Orphanet:377789 obsolete malformation syndrome -MONDO:0000110 bifid nose MONDO:0015412 Orphanet:2695 Orphanet:141234 obsolete median facial cleft -MONDO:0000110 bifid nose MONDO:0015503 Orphanet:2695 Orphanet:156246 obsolete nose and cavum anomaly -MONDO:0000110 bifid nose MONDO:0033334 Orphanet:2695 Orphanet:435606 obsolete genetic nose and cavum anomaly -MONDO:0000110 bifid nose MONDO:8000032 Orphanet:2695 Orphanet:377789 obsolete malformation syndrome -MONDO:0000127 geleophysic dysplasia MONDO:8000032 Orphanet:2623 Orphanet:377789 obsolete malformation syndrome -MONDO:0000133 immunodeficiency-centromeric instability-facial anomalies syndrome MONDO:0015707 Orphanet:2268 Orphanet:169346 obsolete DNA repair defect other than combined T-cell and B-cell immunodeficiencies -MONDO:0000133 immunodeficiency-centromeric instability-facial anomalies syndrome MONDO:0035862 Orphanet:2268 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome -MONDO:0000133 immunodeficiency-centromeric instability-facial anomalies syndrome MONDO:8000032 Orphanet:2268 Orphanet:377789 obsolete malformation syndrome -MONDO:0000141 mosaic variegated aneuploidy syndrome MONDO:0015945 Orphanet:1052 Orphanet:183422 obsolete polymalformative genetic syndrome with increased risk of developing cancer -MONDO:0000141 mosaic variegated aneuploidy syndrome MONDO:0020222 Orphanet:1052 Orphanet:98638 obsolete rare disease with glaucoma as a major feature -MONDO:0000141 mosaic variegated aneuploidy syndrome MONDO:0020226 Orphanet:1052 Orphanet:98642 obsolete chromosomal anomaly with cataract -MONDO:0000141 mosaic variegated aneuploidy syndrome MONDO:0035863 Orphanet:1052 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0000141 mosaic variegated aneuploidy syndrome MONDO:8000032 Orphanet:1052 Orphanet:377789 obsolete malformation syndrome -MONDO:0000153 transposition of the great arteries MONDO:0020285 Orphanet:216675 Orphanet:98717 obsolete transposition of the great arteries and conotruncal cardiac anomaly -MONDO:0000170 microphthalmia, isolated, with coloboma MONDO:8000032 Orphanet:98938 Orphanet:377789 obsolete malformation syndrome -MONDO:0000171 muscular dystrophy-dystroglycanopathy, type A MONDO:0016157 Orphanet:899 Orphanet:207122 obsolete qualitative or quantitative defects of fukutin -MONDO:0000171 muscular dystrophy-dystroglycanopathy, type A MONDO:0016182 Orphanet:899 Orphanet:209024 obsolete qualitative or quantitative defects of protein O-mannose beta1, 2N-acetylglucosaminyltransferase -MONDO:0000171 muscular dystrophy-dystroglycanopathy, type A MONDO:0017745 Orphanet:899 Orphanet:309469 obsolete disorder of O-mannosylglycan synthesis -MONDO:0000171 muscular dystrophy-dystroglycanopathy, type A MONDO:0018132 Orphanet:899 Orphanet:352687 obsolete congenital muscular alpha-dystroglycanopathy with brain and eye anomalies -MONDO:0000171 muscular dystrophy-dystroglycanopathy, type A MONDO:0018287 Orphanet:899 Orphanet:371071 obsolete congenital disorder of glycosylation with epilepsy as a major feature -MONDO:0000171 muscular dystrophy-dystroglycanopathy, type A MONDO:0018296 Orphanet:899 Orphanet:371235 obsolete congenital disorder of glycosylation with developmental anomaly -MONDO:0000171 muscular dystrophy-dystroglycanopathy, type A MONDO:0034954 Orphanet:899 Orphanet:519327 obsolete syndromic vitreoretinopathy -MONDO:0000179 Neu-Laxova syndrome MONDO:0017272 Orphanet:2671 Orphanet:281238 obsolete autosomal ichthyosis syndrome with prominent neurologics signs -MONDO:0000179 Neu-Laxova syndrome MONDO:0017273 Orphanet:2671 Orphanet:281241 obsolete autosomal ichthyosis syndrome with fatal disease course -MONDO:0000179 Neu-Laxova syndrome MONDO:0020154 Orphanet:2671 Orphanet:98563 obsolete microblepharon-ablephara syndrome -MONDO:0000179 Neu-Laxova syndrome MONDO:8000032 Orphanet:2671 Orphanet:377789 obsolete malformation syndrome -MONDO:0000193 cortisone reductase deficiency MONDO:0015860 Orphanet:168588 Orphanet:180208 obsolete anomaly of puberty or/and menstrual cycle -MONDO:0000193 cortisone reductase deficiency MONDO:0016072 Orphanet:168588 Orphanet:202940 obsolete anomaly of puberty or/and menstrual cycle of genetic origin -MONDO:0000193 cortisone reductase deficiency MONDO:8000032 Orphanet:168588 Orphanet:377789 obsolete malformation syndrome -MONDO:0000200 Zimmermann-Laband syndrome MONDO:0015336 Orphanet:3473 Orphanet:139042 obsolete malformation syndrome with odontal and/or periodontal component -MONDO:0000200 Zimmermann-Laband syndrome MONDO:0026190 Orphanet:3473 Orphanet:183580 obsolete genetic malformation syndrome with odontal and/or periodontal component -MONDO:0000200 Zimmermann-Laband syndrome MONDO:0035863 Orphanet:3473 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0000200 Zimmermann-Laband syndrome MONDO:8000032 Orphanet:3473 Orphanet:377789 obsolete malformation syndrome -MONDO:0000211 striatal degeneration, autosomal dominant MONDO:0017635 Orphanet:228169 Orphanet:306666 obsolete parkinsonian syndrome due to neurodegenerative disease -MONDO:0000211 striatal degeneration, autosomal dominant MONDO:0017661 Orphanet:228169 Orphanet:307055 obsolete rare parkinsonian syndrome due to genetic neurodegenerative disease -MONDO:0000212 hypercalcemia, infantile MONDO:0015970 Orphanet:300547 Orphanet:183634 obsolete rare genetic parathyroid disease and phosphocalcic metabolism disorder -MONDO:0000212 hypercalcemia, infantile MONDO:0019061 Orphanet:300547 Orphanet:68415 obsolete rare parathyroid disease and phosphocalcic metabolism anomaly -MONDO:0000212 hypercalcemia, infantile MONDO:0019743 Orphanet:300547 Orphanet:93593 obsolete nephropathy secondary to a storage or other metabolic disease -MONDO:0000437 cerebellar ataxia MONDO:0020009 Orphanet:102002 Orphanet:98006 obsolete rare neurologic disease -MONDO:0000447 autosomal dominant polycystic liver disease MONDO:0015116 Orphanet:2924 Orphanet:101941 obsolete rare biliary tract disease -MONDO:0000447 autosomal dominant polycystic liver disease MONDO:0015509 Orphanet:2924 Orphanet:156607 obsolete hereditary biliary tract disease -MONDO:0000447 autosomal dominant polycystic liver disease MONDO:8000032 Orphanet:2924 Orphanet:377789 obsolete malformation syndrome -MONDO:0000453 short QT syndrome MONDO:0015110 Orphanet:51083 Orphanet:101934 obsolete genetic cardiac rhythm disease -MONDO:0000455 cone dystrophy MONDO:0022399 Orphanet:1871 Orphanet:156171 obsolete retinal ciliopathy due to mutation in the RPGR gene -MONDO:0000456 cerebral creatine deficiency syndrome MONDO:0016401 Orphanet:79172 Orphanet:225696 obsolete energy metabolism disorder with epilepsy -MONDO:0000463 Ochoa syndrome MONDO:0019721 Orphanet:2704 Orphanet:93547 obsolete syndromic renal or urinary tract malformation -MONDO:0000463 Ochoa syndrome MONDO:8000032 Orphanet:2704 Orphanet:377789 obsolete malformation syndrome -MONDO:0000507 inclusion body myopathy with Paget disease of bone and frontotemporal dementia MONDO:0020137 Orphanet:52430 Orphanet:98535 obsolete frontotemporal degeneration with dementia -MONDO:0000507 inclusion body myopathy with Paget disease of bone and frontotemporal dementia MONDO:0028868 Orphanet:52430 Orphanet:276061 obsolete genetic frontotemporal degeneration with dementia -MONDO:0000507 inclusion body myopathy with Paget disease of bone and frontotemporal dementia MONDO:0800084 Orphanet:52430 Orphanet:93444 obsolete primary bone dysplasia with increased bone density -MONDO:0000507 inclusion body myopathy with Paget disease of bone and frontotemporal dementia MONDO:0800089 Orphanet:52430 Orphanet:93450 obsolete primary bone dysplasia with disorganized development of skeletal components -MONDO:0000565 infective endocarditis MONDO:0015575 Orphanet:570762 Orphanet:163582 obsolete rare bacterial infectious disease -MONDO:0000645 fallopian tube benign neoplasm MONDO:0015861 Orphanet:180237 Orphanet:180220 obsolete rare uterine adnexal tumor -MONDO:0000754 anal fistula MONDO:0015245 Orphanet:228113 Orphanet:117569 obsolete rare intestinal disease -MONDO:0000754 anal fistula MONDO:0015621 Orphanet:228113 Orphanet:165711 obsolete rare abdominal surgical disease -MONDO:0000754 anal fistula MONDO:0032014 Orphanet:228113 Orphanet:377793 obsolete particular clinical situation in a disease or syndrome -MONDO:0000827 salmonellosis MONDO:0015575 Orphanet:795 Orphanet:163582 obsolete rare bacterial infectious disease -MONDO:0000845 fibrous dysplasia MONDO:0035682 Orphanet:249 Orphanet:595216 obsolete fibrous dysplasia/McCune-Albright syndrome -MONDO:0000845 fibrous dysplasia MONDO:8000032 Orphanet:249 Orphanet:377789 obsolete malformation syndrome -MONDO:0000863 myopathy, lactic acidosis, and sideroblastic anemia MONDO:0018157 Orphanet:2598 Orphanet:35696 obsolete mitochondrial disorder due to a defect in mitochondrial protein synthesis -MONDO:0000863 myopathy, lactic acidosis, and sideroblastic anemia MONDO:0035862 Orphanet:2598 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome -MONDO:0000902 agenesis of the corpus callosum with peripheral neuropathy MONDO:0016055 Orphanet:1496 Orphanet:199639 obsolete syndrome with corpus callosum agenesis /dysgenesis as a major feature -MONDO:0000902 agenesis of the corpus callosum with peripheral neuropathy MONDO:0016131 Orphanet:1496 Orphanet:207012 obsolete spinal muscular atrophy associated with central nervous system anomaly -MONDO:0000902 agenesis of the corpus callosum with peripheral neuropathy MONDO:0017122 Orphanet:1496 Orphanet:269573 obsolete genetic syndrome with corpus callosum agenesis/dysgenesis as a major feature -MONDO:0000902 agenesis of the corpus callosum with peripheral neuropathy MONDO:0035863 Orphanet:1496 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0000903 myoclonus-dystonia syndrome MONDO:0017651 Orphanet:36899 Orphanet:306750 obsolete primary myoclonus -MONDO:0000903 myoclonus-dystonia syndrome MONDO:0018329 Orphanet:36899 Orphanet:391711 obsolete persistent combined dystonia -MONDO:0000914 cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1 MONDO:0018787 Orphanet:136 Orphanet:477754 obsolete genetic cerebral small vessel disease -MONDO:0000914 cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1 MONDO:0020144 Orphanet:136 Orphanet:98549 obsolete cerebrovascular dementia -MONDO:0001309 oculomotor nerve paralysis MONDO:0034965 Orphanet:98685 Orphanet:519349 obsolete rare ophthalmic disorder with cranial nerve involvement -MONDO:0001325 penile cancer MONDO:0015931 Orphanet:398043 Orphanet:182114 obsolete rare urogenital tumor -MONDO:0001444 Chagas disease MONDO:0015577 Orphanet:3386 Orphanet:163588 obsolete rare parasitic disease -MONDO:0001569 acoustic neuroma MONDO:0020035 Orphanet:252175 Orphanet:98061 obsolete rare otorhinolaryngologic tumor -MONDO:0001569 acoustic neuroma MONDO:8000031 Orphanet:252175 Orphanet:557494 obsolete subtype of a disorder -MONDO:0001586 mucopolysaccharidosis type 1 MONDO:0019058 Orphanet:579 Orphanet:68385 obsolete neurometabolic disease -MONDO:0001586 mucopolysaccharidosis type 1 MONDO:0035862 Orphanet:579 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome -MONDO:0001595 choreatic disease MONDO:0017646 Orphanet:1429 Orphanet:306719 obsolete neurodegenerative disease with chorea -MONDO:0001703 color vision disorder MONDO:0015107 Orphanet:98658 Orphanet:101435 obsolete rare genetic eye disease -MONDO:0001703 color vision disorder MONDO:0020004 Orphanet:98658 Orphanet:97966 obsolete rare eye disease -MONDO:0001713 inherited aplastic anemia MONDO:0015972 Orphanet:68383 Orphanet:183651 obsolete rare constitutional anemia -MONDO:0001734 tuberous sclerosis MONDO:0015651 Orphanet:805 Orphanet:166466 obsolete neurocutaneous syndrome with epilepsy -MONDO:0001734 tuberous sclerosis MONDO:0015878 Orphanet:805 Orphanet:180772 obsolete rare disease with autism -MONDO:0001734 tuberous sclerosis MONDO:0015945 Orphanet:805 Orphanet:183422 obsolete polymalformative genetic syndrome with increased risk of developing cancer -MONDO:0001734 tuberous sclerosis MONDO:0015950 Orphanet:805 Orphanet:183487 obsolete inherited skin tumor -MONDO:0001734 tuberous sclerosis MONDO:0016756 Orphanet:805 Orphanet:252190 obsolete inherited nervous system cancer-predisposing syndrome -MONDO:0001734 tuberous sclerosis MONDO:0017891 Orphanet:805 Orphanet:319328 obsolete inherited renal cancer-predisposing syndrome -MONDO:0001734 tuberous sclerosis MONDO:0019300 Orphanet:805 Orphanet:79386 obsolete rare skin tumor or hamartoma -MONDO:0001734 tuberous sclerosis MONDO:0020063 Orphanet:805 Orphanet:98196 obsolete malformation syndrome with hamartosis -MONDO:0001734 tuberous sclerosis MONDO:0022409 Orphanet:805 Orphanet:156162 obsolete nephropathy-associated ciliopathy -MONDO:0001734 tuberous sclerosis MONDO:0035471 Orphanet:805 Orphanet:568047 obsolete disorder with multisystemic involvement and primary lymphedema -MONDO:0001734 tuberous sclerosis MONDO:0035862 Orphanet:805 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome -MONDO:0001734 tuberous sclerosis MONDO:0957001 Orphanet:805 Orphanet:183481 obsolete hereditary mixed dermis disorder -MONDO:0001790 spinal cord lipoma MONDO:0017059 Orphanet:645276 Orphanet:268357 obsolete neural tube closure defect -MONDO:0001881 toxic shock syndrome MONDO:0015575 Orphanet:36234 Orphanet:163582 obsolete rare bacterial infectious disease -MONDO:0001945 postencephalitic Parkinson disease MONDO:0017635 Orphanet:97349 Orphanet:306666 obsolete parkinsonian syndrome due to neurodegenerative disease -MONDO:0001945 postencephalitic Parkinson disease MONDO:0020141 Orphanet:97349 Orphanet:98542 obsolete infectious disease with dementia -MONDO:0001971 farmer's lung disease MONDO:0020537 Orphanet:99906 Orphanet:99909 obsolete occupational allergic alveolitis -MONDO:0002013 lymphangioma MONDO:0016233 Orphanet:2415 Orphanet:211255 obsolete rare lymphatic system malformation -MONDO:0002096 malignant conjunctival melanoma MONDO:0015121 Orphanet:617910 Orphanet:101950 obsolete rare eye tumor -MONDO:0002145 disorder of sexual differentiation MONDO:0015106 Orphanet:90771 Orphanet:101433 obsolete rare urogenital disease -MONDO:0002145 disorder of sexual differentiation MONDO:0020005 Orphanet:90771 Orphanet:97978 obsolete rare endocrine disease -MONDO:0002158 fallopian tube cancer MONDO:0015861 Orphanet:180242 Orphanet:180220 obsolete rare uterine adnexal tumor -MONDO:0002303 central retinal vein occlusion MONDO:0032014 Orphanet:411527 Orphanet:377793 obsolete particular clinical situation in a disease or syndrome -MONDO:0002413 glycogen storage disease I MONDO:0015115 Orphanet:364 Orphanet:101940 obsolete rare genetic metabolic liver disease -MONDO:0002413 glycogen storage disease I MONDO:0019743 Orphanet:364 Orphanet:93593 obsolete nephropathy secondary to a storage or other metabolic disease -MONDO:0002429 idiopathic interstitial pneumonia MONDO:0017027 Orphanet:98300 Orphanet:264740 obsolete primary interstitial lung disease specific to adulthood -MONDO:0002441 Jervell and Lange-Nielsen syndrome MONDO:0019589 Orphanet:90647 Orphanet:90642 obsolete syndromic genetic hearing loss -MONDO:0002457 Treacher-Collins syndrome MONDO:0015334 Orphanet:861 Orphanet:139036 obsolete branchial arch or oral-acral syndrome -MONDO:0002457 Treacher-Collins syndrome MONDO:0019589 Orphanet:861 Orphanet:90642 obsolete syndromic genetic hearing loss -MONDO:0002457 Treacher-Collins syndrome MONDO:0020157 Orphanet:861 Orphanet:98566 obsolete syndromic palpebral coloboma -MONDO:0002457 Treacher-Collins syndrome MONDO:0020167 Orphanet:861 Orphanet:98576 obsolete malposition of external canthus -MONDO:0002457 Treacher-Collins syndrome MONDO:0020169 Orphanet:861 Orphanet:98578 obsolete rare disorder with ptosis -MONDO:0002457 Treacher-Collins syndrome MONDO:0020253 Orphanet:861 Orphanet:98683 obsolete syndrome with a symptomatic strabismus -MONDO:0002457 Treacher-Collins syndrome MONDO:0024148 Orphanet:861 Orphanet:138050 obsolete Pierre Robin syndrome associated with branchial archs anomalies -MONDO:0002457 Treacher-Collins syndrome MONDO:0026189 Orphanet:861 Orphanet:183576 obsolete genetic branchial arch or oral-acral syndrome -MONDO:0002457 Treacher-Collins syndrome MONDO:0043008 Orphanet:861 Orphanet:330206 obsolete genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability -MONDO:0002457 Treacher-Collins syndrome MONDO:8000032 Orphanet:861 Orphanet:377789 obsolete malformation syndrome -MONDO:0002474 primary hyperoxaluria MONDO:0019743 Orphanet:416 Orphanet:93593 obsolete nephropathy secondary to a storage or other metabolic disease -MONDO:0002520 hepatic porphyria MONDO:0015115 Orphanet:95157 Orphanet:101940 obsolete rare genetic metabolic liver disease -MONDO:0002520 hepatic porphyria MONDO:0016133 Orphanet:95157 Orphanet:207018 obsolete rare hereditary metabolic disease with peripheral neuropathy -MONDO:0002571 primary central nervous system lymphoma MONDO:0020036 Orphanet:46135 Orphanet:98062 obsolete rare nervous system tumor -MONDO:0002588 thymoma type A MONDO:8000031 Orphanet:263310 Orphanet:557494 obsolete subtype of a disorder -MONDO:0002687 superior mesenteric artery syndrome MONDO:0015245 Orphanet:622099 Orphanet:117569 obsolete rare intestinal disease -MONDO:0002687 superior mesenteric artery syndrome MONDO:0015621 Orphanet:622099 Orphanet:165711 obsolete rare abdominal surgical disease -MONDO:0002697 ovarian gonadoblastoma MONDO:0018191 Orphanet:206484 Orphanet:363472 obsolete tumor of testis and paratestis -MONDO:0002718 central nervous system teratoma MONDO:0016738 Orphanet:252018 Orphanet:251995 obsolete primary germ cell tumor of central nervous system -MONDO:0002718 central nervous system teratoma MONDO:8000031 Orphanet:252018 Orphanet:557494 obsolete subtype of a disorder -MONDO:0002882 colon neuroendocrine neoplasm MONDO:0018512 Orphanet:100080 Orphanet:423991 obsolete rare epithelial tumor of colon -MONDO:0002882 colon neuroendocrine neoplasm MONDO:0028618 Orphanet:100080 Orphanet:481508 obsolete gastroenteric neuroendocrine neoplasm -MONDO:0002955 vulva basal cell carcinoma MONDO:8000031 Orphanet:494451 Orphanet:557494 obsolete subtype of a disorder -MONDO:0003010 multilocular clear cell renal cell carcinoma MONDO:8000031 Orphanet:319287 Orphanet:557494 obsolete subtype of a disorder -MONDO:0003111 gastric neuroendocrine neoplasm MONDO:0018972 Orphanet:100075 Orphanet:63443 obsolete rare epithelial tumor of stomach -MONDO:0003111 gastric neuroendocrine neoplasm MONDO:0028618 Orphanet:100075 Orphanet:481508 obsolete gastroenteric neuroendocrine neoplasm -MONDO:0003125 testicular sex cord-stromal neoplasm MONDO:0018191 Orphanet:363489 Orphanet:363472 obsolete tumor of testis and paratestis -MONDO:0003198 small intestine adenocarcinoma MONDO:0018508 Orphanet:104075 Orphanet:423957 obsolete rare carcinoma of small intestine -MONDO:0003414 skin pilomatrix carcinoma MONDO:0019300 Orphanet:499182 Orphanet:79386 obsolete rare skin tumor or hamartoma -MONDO:0003582 hereditary breast ovarian cancer syndrome MONDO:0015870 Orphanet:145 Orphanet:180257 obsolete rare malignant breast tumor -MONDO:0003582 hereditary breast ovarian cancer syndrome MONDO:0015980 Orphanet:145 Orphanet:183731 obsolete rare genetic gynecological and obstetrical diseases -MONDO:0003630 pancreatic serous cystadenocarcinoma MONDO:0016314 Orphanet:424073 Orphanet:217074 obsolete rare carcinoma of pancreas -MONDO:0003646 rectum neuroendocrine neoplasm MONDO:0018514 Orphanet:100081 Orphanet:423998 obsolete rare epithelial tumor of rectum -MONDO:0003646 rectum neuroendocrine neoplasm MONDO:0028618 Orphanet:100081 Orphanet:481508 obsolete gastroenteric neuroendocrine neoplasm -MONDO:0003649 esophageal neuroendocrine tumor MONDO:0015881 Orphanet:506136 Orphanet:180821 obsolete gastroesophageal tumor -MONDO:0003649 esophageal neuroendocrine tumor MONDO:0028618 Orphanet:506136 Orphanet:481508 obsolete gastroenteric neuroendocrine neoplasm -MONDO:0003778 inborn error of immunity MONDO:0015984 Orphanet:101997 Orphanet:183770 obsolete rare genetic immune disease -MONDO:0003778 inborn error of immunity MONDO:0020008 Orphanet:101997 Orphanet:98004 obsolete rare immune disease -MONDO:0003789 hereditary papillary renal cell carcinoma MONDO:0017891 Orphanet:47044 Orphanet:319328 obsolete inherited renal cancer-predisposing syndrome -MONDO:0003832 complement deficiency MONDO:0015136 Orphanet:459345 Orphanet:101992 obsolete immunodeficiency due to a genetic complement cascade protein anomaly -MONDO:0004114 urinary bladder small cell neuroendocrine carcinoma MONDO:0015081 Orphanet:284400 Orphanet:100101 obsolete neuroendocrine tumor with other location -MONDO:0004114 urinary bladder small cell neuroendocrine carcinoma MONDO:0020032 Orphanet:284400 Orphanet:98058 obsolete rare urinary tract tumor -MONDO:0004187 nodular fasciitis MONDO:0019099 Orphanet:477742 Orphanet:71209 obsolete rare soft tissue tumor -MONDO:0004216 pineal region germinoma MONDO:0016738 Orphanet:91352 Orphanet:251995 obsolete primary germ cell tumor of central nervous system -MONDO:0004216 pineal region germinoma MONDO:0019833 Orphanet:91352 Orphanet:95503 obsolete pituitary hormone deficiency from tumoral origin -MONDO:0004216 pineal region germinoma MONDO:8000031 Orphanet:91352 Orphanet:557494 obsolete subtype of a disorder -MONDO:0004234 chronic lymphoproliferative disorder of NK-cells MONDO:0034872 Orphanet:512017 Orphanet:512034 obsolete large granular lymphocyte leukemia -MONDO:0004285 pancreatic intraductal papillary-mucinous carcinoma MONDO:0016314 Orphanet:424058 Orphanet:217074 obsolete rare carcinoma of pancreas -MONDO:0004351 intraocular lymphoma MONDO:0015121 Orphanet:279904 Orphanet:101950 obsolete rare eye tumor -MONDO:0004542 cervical adenosquamous carcinoma, glassy cell variant MONDO:0016274 Orphanet:213833 Orphanet:213761 obsolete rare cancer of cervix uteri -MONDO:0004604 Hodgkin's lymphoma, lymphocytic-histiocytic predominance MONDO:8000031 Orphanet:98845 Orphanet:557494 obsolete subtype of a disorder -MONDO:0004620 Hodgkin's lymphoma, lymphocytic depletion MONDO:8000031 Orphanet:98846 Orphanet:557494 obsolete subtype of a disorder -MONDO:0004633 Hodgkin's lymphoma, mixed cellularity MONDO:8000031 Orphanet:98844 Orphanet:557494 obsolete subtype of a disorder -MONDO:0004691 autosomal dominant polycystic kidney disease MONDO:0018396 Orphanet:730 Orphanet:399824 obsolete rare male fertility disorder with obstructive azoospermia -MONDO:0004691 autosomal dominant polycystic kidney disease MONDO:0018409 Orphanet:730 Orphanet:400003 obsolete rare genetic disorder with obstructive azoospermia -MONDO:0004691 autosomal dominant polycystic kidney disease MONDO:0022409 Orphanet:730 Orphanet:156162 obsolete nephropathy-associated ciliopathy -MONDO:0004745 priapism MONDO:0015106 Orphanet:140949 Orphanet:101433 obsolete rare urogenital disease -MONDO:0004745 priapism MONDO:0032014 Orphanet:140949 Orphanet:377793 obsolete particular clinical situation in a disease or syndrome -MONDO:0004933 hypoplastic left heart syndrome MONDO:8000030 Orphanet:2248 Orphanet:377791 obsolete morphological anomaly -MONDO:0004976 amyotrophic lateral sclerosis MONDO:0015918 Orphanet:803 Orphanet:182070 obsolete rare neurodegenerative disease -MONDO:0004994 cardiomyopathy MONDO:0019996 Orphanet:167848 Orphanet:97929 obsolete rare cardiac disease -MONDO:0005006 clear cell sarcoma of kidney MONDO:0015963 Orphanet:457246 Orphanet:183595 obsolete inherited renal tumor -MONDO:0005006 clear cell sarcoma of kidney MONDO:0019749 Orphanet:457246 Orphanet:93619 obsolete rare renal tumor -MONDO:0005029 essential thrombocythemia MONDO:0016637 Orphanet:3318 Orphanet:248404 obsolete thrombotic disorder due to an acquired platelet anomaly -MONDO:0005055 Kaposi's sarcoma MONDO:0016228 Orphanet:33276 Orphanet:211237 obsolete rare vascular tumor -MONDO:0005077 pertussis MONDO:0015575 Orphanet:1489 Orphanet:163582 obsolete rare bacterial infectious disease -MONDO:0005081 preeclampsia MONDO:0015582 Orphanet:275555 Orphanet:163637 obsolete rare disorder related with pregnancy, childbirth and puerperium -MONDO:0005086 renal cell carcinoma MONDO:0019749 Orphanet:217071 Orphanet:93619 obsolete rare renal tumor -MONDO:0005091 severe acute respiratory syndrome MONDO:0015118 Orphanet:140896 Orphanet:101944 obsolete rare pulmonary disease -MONDO:0005091 severe acute respiratory syndrome MONDO:0015576 Orphanet:140896 Orphanet:163585 obsolete rare viral disease -MONDO:0005100 systemic sclerosis MONDO:0015118 Orphanet:90291 Orphanet:101944 obsolete rare pulmonary disease -MONDO:0005100 systemic sclerosis MONDO:0015939 Orphanet:90291 Orphanet:182228 obsolete systemic autoimmune disease -MONDO:0005103 well-differentiated liposarcoma MONDO:8000031 Orphanet:99971 Orphanet:557494 obsolete subtype of a disorder -MONDO:0005116 Whipple disease MONDO:0015245 Orphanet:3452 Orphanet:117569 obsolete rare intestinal disease -MONDO:0005116 Whipple disease MONDO:0015575 Orphanet:3452 Orphanet:163582 obsolete rare bacterial infectious disease -MONDO:0005116 Whipple disease MONDO:0017652 Orphanet:3452 Orphanet:306753 obsolete rare disease with myoclonus as a major feature -MONDO:0005124 leprosy MONDO:0015575 Orphanet:548 Orphanet:163582 obsolete rare bacterial infectious disease -MONDO:0005124 leprosy MONDO:0016104 Orphanet:548 Orphanet:206613 obsolete infectious disease with peripheral neuropathy -MONDO:0005124 leprosy MONDO:0018396 Orphanet:548 Orphanet:399824 obsolete rare male fertility disorder with obstructive azoospermia -MONDO:0005136 malaria MONDO:0015577 Orphanet:673 Orphanet:163588 obsolete rare parasitic disease -MONDO:0005153 cervical adenocarcinoma MONDO:0016274 Orphanet:213772 Orphanet:213761 obsolete rare cancer of cervix uteri -MONDO:0005197 thymus neoplasm MONDO:0020031 Orphanet:100100 Orphanet:98057 obsolete rare tumor -MONDO:0005198 vulvar intraepithelial neoplasia MONDO:0015876 Orphanet:137583 Orphanet:180312 obsolete rare vulvovaginal tumor -MONDO:0005210 uterine corpus sarcoma MONDO:0016253 Orphanet:213620 Orphanet:213569 obsolete rare cancer of corpus uteri -MONDO:0005212 rhabdomyosarcoma MONDO:0016123 Orphanet:780 Orphanet:206982 obsolete muscular tumor -MONDO:0005215 vulvar carcinoma MONDO:0015876 Orphanet:494418 Orphanet:180312 obsolete rare vulvovaginal tumor -MONDO:0005308 ciliopathy MONDO:0021198 Orphanet:363250 Orphanet:98053 obsolete rare genetic disease -MONDO:0005312 pouchitis MONDO:0015245 Orphanet:217067 Orphanet:117569 obsolete rare intestinal disease -MONDO:0005312 pouchitis MONDO:0032014 Orphanet:217067 Orphanet:377793 obsolete particular clinical situation in a disease or syndrome -MONDO:0005313 necrotizing enterocolitis MONDO:0015187 Orphanet:391673 Orphanet:104012 obsolete rare inflammatory bowel disease -MONDO:0005380 osteonecrosis MONDO:0015940 Orphanet:399158 Orphanet:182231 obsolete rare rheumatologic disease -MONDO:0005380 osteonecrosis MONDO:0019684 Orphanet:399158 Orphanet:93419 obsolete rare bone disease -MONDO:0005388 primary biliary cholangitis MONDO:0015116 Orphanet:186 Orphanet:101941 obsolete rare biliary tract disease -MONDO:0005459 human African trypanosomiasis MONDO:0015577 Orphanet:3385 Orphanet:163588 obsolete rare parasitic disease -MONDO:0005486 tooth agenesis MONDO:0015603 Orphanet:99798 Orphanet:164001 obsolete rare odontal or periodontal disorder -MONDO:0005486 tooth agenesis MONDO:0018488 Orphanet:99798 Orphanet:420755 obsolete rare genetic odontal or periodontal disorder -MONDO:0005486 tooth agenesis MONDO:8000030 Orphanet:99798 Orphanet:377791 obsolete morphological anomaly -MONDO:0005498 botulism MONDO:0015575 Orphanet:1267 Orphanet:163582 obsolete rare bacterial infectious disease -MONDO:0005498 botulism MONDO:0020125 Orphanet:1267 Orphanet:98494 obsolete acquired neuromuscular junction disease -MONDO:0005504 diphtheria MONDO:0015575 Orphanet:1679 Orphanet:163582 obsolete rare bacterial infectious disease -MONDO:0005508 hereditary multiple osteochondromas MONDO:0015959 Orphanet:321 Orphanet:183527 obsolete inherited syndrome with bone tumors as a major feature -MONDO:0005508 hereditary multiple osteochondromas MONDO:0017742 Orphanet:321 Orphanet:309450 obsolete disorder of O-xylosylglycan synthesis -MONDO:0005508 hereditary multiple osteochondromas MONDO:0018292 Orphanet:321 Orphanet:371195 obsolete congenital disorder of glycosylation-related bone disorder -MONDO:0005508 hereditary multiple osteochondromas MONDO:0800089 Orphanet:321 Orphanet:93450 obsolete primary bone dysplasia with disorganized development of skeletal components -MONDO:0005512 malignant peritoneal mesothelioma MONDO:0015683 Orphanet:168811 Orphanet:168807 obsolete primary malignant peritoneal tumor -MONDO:0005514 nanophthalmia MONDO:0020216 Orphanet:35612 Orphanet:98631 obsolete secondary dysgenetic glaucoma -MONDO:0005514 nanophthalmia MONDO:0020253 Orphanet:35612 Orphanet:98683 obsolete syndrome with a symptomatic strabismus -MONDO:0005514 nanophthalmia MONDO:8000032 Orphanet:35612 Orphanet:377789 obsolete malformation syndrome -MONDO:0005526 tetanus MONDO:0015575 Orphanet:3299 Orphanet:163582 obsolete rare bacterial infectious disease -MONDO:0005543 autoimmune hepatitis type 1 MONDO:8000031 Orphanet:563576 Orphanet:557494 obsolete subtype of a disorder -MONDO:0005563 nut midline carcinoma MONDO:0020031 Orphanet:443167 Orphanet:98057 obsolete rare tumor -MONDO:0005570 hematologic disorder MONDO:8000033 Orphanet:97992 Orphanet:557492 obsolete group of disorders -MONDO:0005595 laryngeal squamous cell carcinoma MONDO:0020035 Orphanet:494550 Orphanet:98061 obsolete rare otorhinolaryngologic tumor -MONDO:0005615 plasmacytoma MONDO:0016180 Orphanet:86855 Orphanet:209016 obsolete hematological disease associated with an acquired peripheral neuropathy -MONDO:0005620 cerebral amyloid angiopathy MONDO:0018787 Orphanet:85458 Orphanet:477754 obsolete genetic cerebral small vessel disease -MONDO:0005620 cerebral amyloid angiopathy MONDO:0020144 Orphanet:85458 Orphanet:98549 obsolete cerebrovascular dementia -MONDO:0005629 Acanthamoeba keratitis MONDO:0015577 Orphanet:67043 Orphanet:163588 obsolete rare parasitic disease -MONDO:0005631 actinomycosis MONDO:0015575 Orphanet:457095 Orphanet:163582 obsolete rare bacterial infectious disease -MONDO:0005645 ancylostomiasis MONDO:0015577 Orphanet:78 Orphanet:163588 obsolete rare parasitic disease -MONDO:0005657 aspergillosis MONDO:0015578 Orphanet:1163 Orphanet:163591 obsolete rare mycosis -MONDO:0005661 babesiosis MONDO:0015577 Orphanet:108 Orphanet:163588 obsolete rare parasitic disease -MONDO:0005662 balantidiasis MONDO:0015577 Orphanet:1223 Orphanet:163588 obsolete rare parasitic disease -MONDO:0005668 bird fancier's lung MONDO:0020537 Orphanet:99908 Orphanet:99909 obsolete occupational allergic alveolitis -MONDO:0005680 Brill-Zinsser disease MONDO:8000031 Orphanet:99990 Orphanet:557494 obsolete subtype of a disorder -MONDO:0005683 brucellosis MONDO:0015575 Orphanet:1304 Orphanet:163582 obsolete rare bacterial infectious disease -MONDO:0005692 cat-scratch disease MONDO:0015575 Orphanet:50839 Orphanet:163582 obsolete rare bacterial infectious disease -MONDO:0005706 coccidioidomycosis MONDO:0015577 Orphanet:228123 Orphanet:163588 obsolete rare parasitic disease -MONDO:0005708 Colorado tick fever MONDO:0015659 Orphanet:83595 Orphanet:166490 obsolete infectious disease with epilepsy -MONDO:0005711 congenital diaphragmatic hernia MONDO:0015118 Orphanet:2140 Orphanet:101944 obsolete rare pulmonary disease -MONDO:0005711 congenital diaphragmatic hernia MONDO:0015215 Orphanet:2140 Orphanet:108977 obsolete non-syndromic diaphragmatic or abdominal wall malformation -MONDO:0005711 congenital diaphragmatic hernia MONDO:0015879 Orphanet:2140 Orphanet:180776 obsolete non-syndromic diaphragmatic or thoracic malformation -MONDO:0005711 congenital diaphragmatic hernia MONDO:8000030 Orphanet:2140 Orphanet:377791 obsolete morphological anomaly -MONDO:0005715 congenital toxoplasmosis MONDO:0015577 Orphanet:858 Orphanet:163588 obsolete rare parasitic disease -MONDO:0005715 congenital toxoplasmosis MONDO:0015659 Orphanet:858 Orphanet:166490 obsolete infectious disease with epilepsy -MONDO:0005724 cryptococcosis MONDO:0015577 Orphanet:1546 Orphanet:163588 obsolete rare parasitic disease -MONDO:0005725 cyclosporiasis MONDO:0015577 Orphanet:210 Orphanet:163588 obsolete rare parasitic disease -MONDO:0005736 eastern equine encephalitis MONDO:0015659 Orphanet:83594 Orphanet:166490 obsolete infectious disease with epilepsy -MONDO:0005769 geniculate herpes zoster MONDO:0015576 Orphanet:3020 Orphanet:163585 obsolete rare viral disease -MONDO:0005769 geniculate herpes zoster MONDO:0016104 Orphanet:3020 Orphanet:206613 obsolete infectious disease with peripheral neuropathy -MONDO:0005773 Gerstmann syndrome MONDO:0020009 Orphanet:221117 Orphanet:98006 obsolete rare neurologic disease -MONDO:0005789 hepatitis D virus infection MONDO:0015576 Orphanet:402823 Orphanet:163585 obsolete rare viral disease -MONDO:0005789 hepatitis D virus infection MONDO:0018928 Orphanet:402823 Orphanet:57146 obsolete rare hepatic disease -MONDO:0005797 HIV wasting syndrome MONDO:0032014 Orphanet:90081 Orphanet:377793 obsolete particular clinical situation in a disease or syndrome -MONDO:0005802 hymenolepiasis MONDO:0015577 Orphanet:401 Orphanet:163588 obsolete rare parasitic disease -MONDO:0005803 hyperinsulinemic hypoglycemia MONDO:0020005 Orphanet:443095 Orphanet:97978 obsolete rare endocrine disease -MONDO:0005815 pancreatic neuroendocrine neoplasm MONDO:0018520 Orphanet:506052 Orphanet:424033 obsolete rare epithelial tumor of pancreas -MONDO:0005817 Kluver-Bucy syndrome MONDO:0015659 Orphanet:157823 Orphanet:166490 obsolete infectious disease with epilepsy -MONDO:0005817 Kluver-Bucy syndrome MONDO:0032013 Orphanet:157823 Orphanet:377792 obsolete clinical syndrome -MONDO:0005823 legionellosis MONDO:0015575 Orphanet:600832 Orphanet:163582 obsolete rare bacterial infectious disease -MONDO:0005825 leptospirosis MONDO:0015575 Orphanet:509 Orphanet:163582 obsolete rare bacterial infectious disease -MONDO:0005828 listeriosis MONDO:0015575 Orphanet:533 Orphanet:163582 obsolete rare bacterial infectious disease -MONDO:0005846 microsporidiosis MONDO:0015577 Orphanet:2552 Orphanet:163588 obsolete rare parasitic disease -MONDO:0005851 Miller Fisher syndrome MONDO:0016494 Orphanet:98919 Orphanet:231416 obsolete regional variant of Guillain-Barre syndrome -MONDO:0005854 mixed connective tissue disease MONDO:0015928 Orphanet:809 Orphanet:182104 obsolete secondary interstitial lung disease in childhood and adulthood associated with a connective tissue disease -MONDO:0005854 mixed connective tissue disease MONDO:0016177 Orphanet:809 Orphanet:209007 obsolete systemic inflammatory disease associated with an acquired peripheral neuropathy -MONDO:0005894 paracoccidioidomycosis MONDO:0015578 Orphanet:73260 Orphanet:163591 obsolete rare mycosis -MONDO:0005919 placental insufficiency MONDO:0015582 Orphanet:439167 Orphanet:163637 obsolete rare disorder related with pregnancy, childbirth and puerperium -MONDO:0005919 placental insufficiency MONDO:0032013 Orphanet:439167 Orphanet:377792 obsolete clinical syndrome -MONDO:0005933 pulmonary blastoma MONDO:0015119 Orphanet:64741 Orphanet:101945 obsolete bronchopulmonary tumor -MONDO:0005968 sporotrichosis MONDO:0015578 Orphanet:826 Orphanet:163591 obsolete rare mycosis -MONDO:0005969 st. Louis encephalitis MONDO:0015659 Orphanet:83484 Orphanet:166490 obsolete infectious disease with epilepsy -MONDO:0005974 strongyloidiasis MONDO:0015577 Orphanet:76 Orphanet:163588 obsolete rare parasitic disease -MONDO:0005979 thoracic outlet syndrome MONDO:0020002 Orphanet:97330 Orphanet:97962 obsolete rare surgical thoracic disease -MONDO:0005988 toxocariasis MONDO:0015577 Orphanet:3343 Orphanet:163588 obsolete rare parasitic disease -MONDO:0005991 trench fever MONDO:0015575 Orphanet:64694 Orphanet:163582 obsolete rare bacterial infectious disease -MONDO:0006009 viral encephalitis MONDO:0015576 Orphanet:98252 Orphanet:163585 obsolete rare viral disease -MONDO:0006015 Waterhouse-Friderichsen syndrome MONDO:8000031 Orphanet:100067 Orphanet:557494 obsolete subtype of a disorder -MONDO:0006037 hydrolethalus syndrome MONDO:0015335 Orphanet:2189 Orphanet:139039 obsolete Mendelian syndromes with cleft lip/palate -MONDO:0006037 hydrolethalus syndrome MONDO:0017120 Orphanet:2189 Orphanet:269531 obsolete other syndrome with a central nervous system malformation as major feature -MONDO:0006037 hydrolethalus syndrome MONDO:8000032 Orphanet:2189 Orphanet:377789 obsolete malformation syndrome -MONDO:0006043 metaplastic breast carcinoma MONDO:0015870 Orphanet:213531 Orphanet:180257 obsolete rare malignant breast tumor -MONDO:0006079 ameloblastic carcinoma MONDO:0017797 Orphanet:314422 Orphanet:314425 obsolete rare odontologic tumor -MONDO:0006131 cerebellar liponeurocytoma MONDO:0016726 Orphanet:251931 Orphanet:251924 obsolete neuronal tumor -MONDO:0006133 cervical adenoid cystic carcinoma MONDO:0016274 Orphanet:213823 Orphanet:213761 obsolete rare cancer of cervix uteri -MONDO:0006143 cervical squamous cell carcinoma MONDO:0016274 Orphanet:213767 Orphanet:213761 obsolete rare cancer of cervix uteri -MONDO:0006183 disseminated peritoneal leiomyomatosis MONDO:0015682 Orphanet:71274 Orphanet:168803 obsolete primary peritoneal tumor -MONDO:0006230 gastric squamous cell carcinoma MONDO:0018501 Orphanet:418959 Orphanet:423771 obsolete rare carcinoma of stomach -MONDO:0006248 hydatidiform mole MONDO:0016784 Orphanet:99927 Orphanet:254685 obsolete gestational trophoblastic disease -MONDO:0006277 lung lymphangioleiomyomatosis MONDO:0015510 Orphanet:538 Orphanet:156610 obsolete rare genetic respiratory disease -MONDO:0006277 lung lymphangioleiomyomatosis MONDO:0017027 Orphanet:538 Orphanet:264740 obsolete primary interstitial lung disease specific to adulthood -MONDO:0006292 malignant mesothelioma MONDO:0015119 Orphanet:50251 Orphanet:101945 obsolete bronchopulmonary tumor -MONDO:0006339 ovarian microcystic stromal tumor MONDO:0019965 Orphanet:569248 Orphanet:97293 obsolete rare benign ovarian tumor -MONDO:0006346 pancreatic acinar cell carcinoma MONDO:0016314 Orphanet:424046 Orphanet:217074 obsolete rare carcinoma of pancreas -MONDO:0006359 neoplasm with perivascular epithelioid cell differentiation MONDO:0019099 Orphanet:595133 Orphanet:71209 obsolete rare soft tissue tumor -MONDO:0006363 peritoneal multicystic mesothelioma MONDO:0015683 Orphanet:168816 Orphanet:168807 obsolete primary malignant peritoneal tumor -MONDO:0006369 pineal parenchymal tumor of intermediate differentiation MONDO:0016721 Orphanet:251919 Orphanet:251905 obsolete pineal tumor of neuroepithelial tissue -MONDO:0006373 pituitary gland adenoma MONDO:0019833 Orphanet:99408 Orphanet:95503 obsolete pituitary hormone deficiency from tumoral origin -MONDO:0006383 primary cutaneous diffuse large B-cell lymphoma, Leg type MONDO:0015818 Orphanet:178544 Orphanet:178554 obsolete aggressive primary cutaneous B-cell lymphoma -MONDO:0006479 undifferentiated pancreatic carcinoma with osteoclast-like giant cells MONDO:0016314 Orphanet:424080 Orphanet:217074 obsolete rare carcinoma of pancreas -MONDO:0006486 uveal melanoma MONDO:0015121 Orphanet:39044 Orphanet:101950 obsolete rare eye tumor -MONDO:0006543 epidermolysis bullosa dystrophica MONDO:0015331 Orphanet:303 Orphanet:139027 obsolete malformation syndrome with skin/mucosae involvement -MONDO:0006606 scleredema adultorum MONDO:0019546 Orphanet:352763 Orphanet:90077 obsolete other acquired skin disease -MONDO:0006614 subcorneal pustular dermatosis MONDO:0019546 Orphanet:48377 Orphanet:90077 obsolete other acquired skin disease -MONDO:0006639 adrenal cortex carcinoma MONDO:0017820 Orphanet:1501 Orphanet:314749 obsolete obsolete disease with Cushing syndrome as a major feature -MONDO:0006663 perinatal asphyxia MONDO:0019110 Orphanet:137577 Orphanet:71281 obsolete rare central nervous system or retinal vascular disease -MONDO:0006663 perinatal asphyxia MONDO:0032014 Orphanet:137577 Orphanet:377793 obsolete particular clinical situation in a disease or syndrome -MONDO:0006664 atrial septal defect MONDO:0017131 Orphanet:1478 Orphanet:271853 obsolete hereditary cardiac anomaly -MONDO:0006664 atrial septal defect MONDO:0020294 Orphanet:1478 Orphanet:98727 obsolete atrial defect and interatrial communication -MONDO:0006664 atrial septal defect MONDO:8000030 Orphanet:1478 Orphanet:377791 obsolete morphological anomaly -MONDO:0006687 burning mouth syndrome MONDO:0020011 Orphanet:353253 Orphanet:98022 obsolete rare headache disorder -MONDO:0006702 chronic inflammatory demyelinating polyradiculoneuropathy MONDO:0015916 Orphanet:2932 Orphanet:182064 obsolete rare neuroinflammatory or neuroimmunological disease -MONDO:0006702 chronic inflammatory demyelinating polyradiculoneuropathy MONDO:0016170 Orphanet:2932 Orphanet:208978 obsolete chronic polyradiculoneuropathy -MONDO:0006745 endometrioid stromal sarcoma MONDO:0016253 Orphanet:213711 Orphanet:213569 obsolete rare cancer of corpus uteri -MONDO:0006825 kuru MONDO:0017641 Orphanet:454745 Orphanet:306695 obsolete miscellaneous movement disorder due to neurodegenerative disease -MONDO:0006851 meconium aspiration syndrome MONDO:0015118 Orphanet:70588 Orphanet:101944 obsolete rare pulmonary disease -MONDO:0006913 pneumococcal meningitis MONDO:0015575 Orphanet:55655 Orphanet:163582 obsolete rare bacterial infectious disease -MONDO:0006913 pneumococcal meningitis MONDO:0015659 Orphanet:55655 Orphanet:166490 obsolete infectious disease with epilepsy -MONDO:0006941 rat-bite fever MONDO:0015575 Orphanet:31205 Orphanet:163582 obsolete rare bacterial infectious disease -MONDO:0006956 Rickettsiosis MONDO:0015575 Orphanet:102021 Orphanet:163582 obsolete rare bacterial infectious disease -MONDO:0007029 branchio-oto-renal syndrome MONDO:0015334 Orphanet:107 Orphanet:139036 obsolete branchial arch or oral-acral syndrome -MONDO:0007029 branchio-oto-renal syndrome MONDO:0015495 Orphanet:107 Orphanet:156202 obsolete otomandibular dysplasia associated with monogenic syndromes -MONDO:0007029 branchio-oto-renal syndrome MONDO:0015501 Orphanet:107 Orphanet:156237 obsolete syndrome or malformation associated with head and neck malformations -MONDO:0007029 branchio-oto-renal syndrome MONDO:0019589 Orphanet:107 Orphanet:90642 obsolete syndromic genetic hearing loss -MONDO:0007029 branchio-oto-renal syndrome MONDO:0019721 Orphanet:107 Orphanet:93547 obsolete syndromic renal or urinary tract malformation -MONDO:0007029 branchio-oto-renal syndrome MONDO:0026189 Orphanet:107 Orphanet:183576 obsolete genetic branchial arch or oral-acral syndrome -MONDO:0007029 branchio-oto-renal syndrome MONDO:0043008 Orphanet:107 Orphanet:330206 obsolete genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability -MONDO:0007029 branchio-oto-renal syndrome MONDO:8000032 Orphanet:107 Orphanet:377789 obsolete malformation syndrome -MONDO:0007031 familial abdominal aortic aneurysm MONDO:0016517 Orphanet:86 Orphanet:233655 obsolete rare genetic vascular disease -MONDO:0007032 prune belly syndrome MONDO:8000032 Orphanet:2970 Orphanet:377789 obsolete malformation syndrome -MONDO:0007034 Adams-Oliver syndrome MONDO:0017432 Orphanet:974 Orphanet:294955 obsolete syndrome with limb reduction defects -MONDO:0007034 Adams-Oliver syndrome MONDO:0020018 Orphanet:974 Orphanet:98038 obsolete cranial malformation -MONDO:0007034 Adams-Oliver syndrome MONDO:0020225 Orphanet:974 Orphanet:98641 obsolete syndromic cataract -MONDO:0007034 Adams-Oliver syndrome MONDO:0026182 Orphanet:974 Orphanet:183542 obsolete genetic cranial malformation -MONDO:0007034 Adams-Oliver syndrome MONDO:0035863 Orphanet:974 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0007034 Adams-Oliver syndrome MONDO:0800094 Orphanet:974 Orphanet:498454 obsolete dysostosis with brachydactyly with extraskeletal manifestations -MONDO:0007034 Adams-Oliver syndrome MONDO:0957001 Orphanet:974 Orphanet:183481 obsolete hereditary mixed dermis disorder -MONDO:0007034 Adams-Oliver syndrome MONDO:8000032 Orphanet:974 Orphanet:377789 obsolete malformation syndrome -MONDO:0007037 Achondroplasia MONDO:0018232 Orphanet:15 Orphanet:364536 obsolete primary bone dysplasia with micromelia -MONDO:0007039 neurofibromatosis type 2 MONDO:0019589 Orphanet:637 Orphanet:90642 obsolete syndromic genetic hearing loss -MONDO:0007039 neurofibromatosis type 2 MONDO:0020225 Orphanet:637 Orphanet:98641 obsolete syndromic cataract -MONDO:0007041 Apert syndrome MONDO:0020234 Orphanet:87 Orphanet:98650 obsolete craniofacial anomaly with cataract -MONDO:0007041 Apert syndrome MONDO:0020254 Orphanet:87 Orphanet:98684 obsolete craniostenosis associated with a strabismus -MONDO:0007041 Apert syndrome MONDO:0024149 Orphanet:87 Orphanet:138055 obsolete Pierre Robin syndrome associated with bone disease -MONDO:0007041 Apert syndrome MONDO:0035863 Orphanet:87 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0007041 Apert syndrome MONDO:8000032 Orphanet:87 Orphanet:377789 obsolete malformation syndrome -MONDO:0007042 Saethre-Chotzen syndrome MONDO:0015945 Orphanet:794 Orphanet:183422 obsolete polymalformative genetic syndrome with increased risk of developing cancer -MONDO:0007042 Saethre-Chotzen syndrome MONDO:0020169 Orphanet:794 Orphanet:98578 obsolete rare disorder with ptosis -MONDO:0007042 Saethre-Chotzen syndrome MONDO:0020254 Orphanet:794 Orphanet:98684 obsolete craniostenosis associated with a strabismus -MONDO:0007042 Saethre-Chotzen syndrome MONDO:0035862 Orphanet:794 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome -MONDO:0007042 Saethre-Chotzen syndrome MONDO:8000032 Orphanet:794 Orphanet:377789 obsolete malformation syndrome -MONDO:0007043 Pfeiffer syndrome MONDO:0020254 Orphanet:710 Orphanet:98684 obsolete craniostenosis associated with a strabismus -MONDO:0007043 Pfeiffer syndrome MONDO:8000032 Orphanet:710 Orphanet:377789 obsolete malformation syndrome -MONDO:0007045 acrofacial dysostosis, Catania type MONDO:0015334 Orphanet:1786 Orphanet:139036 obsolete branchial arch or oral-acral syndrome -MONDO:0007045 acrofacial dysostosis, Catania type MONDO:0026189 Orphanet:1786 Orphanet:183576 obsolete genetic branchial arch or oral-acral syndrome -MONDO:0007045 acrofacial dysostosis, Catania type MONDO:0035863 Orphanet:1786 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0007045 acrofacial dysostosis, Catania type MONDO:8000032 Orphanet:1786 Orphanet:377789 obsolete malformation syndrome -MONDO:0007047 punctate palmoplantar keratoderma type III MONDO:0016436 Orphanet:38 Orphanet:228224 obsolete acquired dermis elastic tissue disorder with increased elastic tissue -MONDO:0007047 punctate palmoplantar keratoderma type III MONDO:0017676 Orphanet:38 Orphanet:307995 obsolete marginal papular palmoplantar keratoderma -MONDO:0007047 punctate palmoplantar keratoderma type III MONDO:0019271 Orphanet:38 Orphanet:79356 obsolete acrokeratoderma -MONDO:0007047 punctate palmoplantar keratoderma type III MONDO:0026151 Orphanet:38 Orphanet:183441 obsolete genetic acrokeratoderma -MONDO:0007048 acrokeratosis verruciformis MONDO:0019271 Orphanet:79151 Orphanet:79356 obsolete acrokeratoderma -MONDO:0007048 acrokeratosis verruciformis MONDO:0026151 Orphanet:79151 Orphanet:183441 obsolete genetic acrokeratoderma -MONDO:0007055 Acromicric dysplasia MONDO:8000032 Orphanet:969 Orphanet:377789 obsolete malformation syndrome -MONDO:0007057 Acroosteolysis dominant type MONDO:0015940 Orphanet:955 Orphanet:182231 obsolete rare rheumatologic disease -MONDO:0007057 Acroosteolysis dominant type MONDO:0019721 Orphanet:955 Orphanet:93547 obsolete syndromic renal or urinary tract malformation -MONDO:0007057 Acroosteolysis dominant type MONDO:8000032 Orphanet:955 Orphanet:377789 obsolete malformation syndrome -MONDO:0007058 Acropectorovertebral dysplasia MONDO:0017434 Orphanet:957 Orphanet:294959 obsolete syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy -MONDO:0007058 Acropectorovertebral dysplasia MONDO:8000032 Orphanet:957 Orphanet:377789 obsolete malformation syndrome -MONDO:0007059 acrorenal syndrome MONDO:0019721 Orphanet:971 Orphanet:93547 obsolete syndromic renal or urinary tract malformation -MONDO:0007059 acrorenal syndrome MONDO:0043008 Orphanet:971 Orphanet:330206 obsolete genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability -MONDO:0007059 acrorenal syndrome MONDO:8000032 Orphanet:971 Orphanet:377789 obsolete malformation syndrome -MONDO:0007062 adactylia, unilateral MONDO:0034668 Orphanet:973 Orphanet:498461 obsolete terminal transverse limb defect -MONDO:0007062 adactylia, unilateral MONDO:8000030 Orphanet:973 Orphanet:377791 obsolete morphological anomaly -MONDO:0007068 adenylosuccinate lyase deficiency MONDO:0015878 Orphanet:46 Orphanet:180772 obsolete rare disease with autism -MONDO:0007068 adenylosuccinate lyase deficiency MONDO:0016406 Orphanet:46 Orphanet:225713 obsolete other metabolic disease with epilepsy -MONDO:0007068 adenylosuccinate lyase deficiency MONDO:0035862 Orphanet:46 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome -MONDO:0007072 ADULT syndrome MONDO:0015336 Orphanet:978 Orphanet:139042 obsolete malformation syndrome with odontal and/or periodontal component -MONDO:0007072 ADULT syndrome MONDO:0017432 Orphanet:978 Orphanet:294955 obsolete syndrome with limb reduction defects -MONDO:0007072 ADULT syndrome MONDO:0020197 Orphanet:978 Orphanet:98609 obsolete EEC syndrome and related syndrome -MONDO:0007072 ADULT syndrome MONDO:0026190 Orphanet:978 Orphanet:183580 obsolete genetic malformation syndrome with odontal and/or periodontal component -MONDO:0007072 ADULT syndrome MONDO:0800090 Orphanet:978 Orphanet:498477 obsolete ectrodactyly with and without other manifestations -MONDO:0007072 ADULT syndrome MONDO:8000032 Orphanet:978 Orphanet:377789 obsolete malformation syndrome -MONDO:0007073 Hypoglossia-hypodactyly syndrome MONDO:0015334 Orphanet:989 Orphanet:139036 obsolete branchial arch or oral-acral syndrome -MONDO:0007073 Hypoglossia-hypodactyly syndrome MONDO:0017432 Orphanet:989 Orphanet:294955 obsolete syndrome with limb reduction defects -MONDO:0007073 Hypoglossia-hypodactyly syndrome MONDO:0026189 Orphanet:989 Orphanet:183576 obsolete genetic branchial arch or oral-acral syndrome -MONDO:0007073 Hypoglossia-hypodactyly syndrome MONDO:0035863 Orphanet:989 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0007073 Hypoglossia-hypodactyly syndrome MONDO:8000032 Orphanet:989 Orphanet:377789 obsolete malformation syndrome -MONDO:0007077 Tietz syndrome MONDO:0019589 Orphanet:42665 Orphanet:90642 obsolete syndromic genetic hearing loss -MONDO:0007077 Tietz syndrome MONDO:8000032 Orphanet:42665 Orphanet:377789 obsolete malformation syndrome -MONDO:0007078 pseudohypoparathyroidism type 1A MONDO:0018699 Orphanet:79443 Orphanet:457059 obsolete pseudohypoparathyroidism with Albright hereditary osteodystrophy -MONDO:0007078 pseudohypoparathyroidism type 1A MONDO:0035862 Orphanet:79443 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome -MONDO:0007083 autosomal dominant palmoplantar keratoderma and congenital alopecia MONDO:0020094 Orphanet:1010 Orphanet:98352 obsolete autosomal dominant disease with diffuse palmoplantar keratoderma as a major feature -MONDO:0007085 alopecia-epilepsy-pyorrhea-intellectual disability syndrome MONDO:0021034 Orphanet:1008 Orphanet:481771 obsolete hereditary alopecia -MONDO:0007085 alopecia-epilepsy-pyorrhea-intellectual disability syndrome MONDO:0035862 Orphanet:1008 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome -MONDO:0007086 autosomal dominant Alport syndrome MONDO:8000031 Orphanet:88918 Orphanet:557494 obsolete subtype of a disorder -MONDO:0007093 hypomaturation-hypoplastic amelogenesis imperfecta with taurodontism MONDO:8000031 Orphanet:100034 Orphanet:557494 obsolete subtype of a disorder -MONDO:0007095 ameloonychohypohidrotic syndrome MONDO:8000032 Orphanet:1028 Orphanet:377789 obsolete malformation syndrome -MONDO:0007097 Finnish type amyloidosis MONDO:0016134 Orphanet:85448 Orphanet:207021 obsolete rare hereditary systemic disease with peripheral neuropathy -MONDO:0007097 Finnish type amyloidosis MONDO:0020215 Orphanet:85448 Orphanet:98628 obsolete syndromic corneal dystrophy -MONDO:0007098 ACys amyloidosis MONDO:8000031 Orphanet:100008 Orphanet:557494 obsolete subtype of a disorder -MONDO:0007100 familial amyloid neuropathy MONDO:0016134 Orphanet:85447 Orphanet:207021 obsolete rare hereditary systemic disease with peripheral neuropathy -MONDO:0007100 familial amyloid neuropathy MONDO:0017132 Orphanet:85447 Orphanet:271861 obsolete hereditary ATTR amyloidosis -MONDO:0007101 familial primary localized cutaneous amyloidosis MONDO:0018798 Orphanet:353220 Orphanet:477808 obsolete other genetic dermis disorder -MONDO:0007104 amyotrophic lateral sclerosis-parkinsonism-dementia complex MONDO:0020136 Orphanet:90020 Orphanet:98534 obsolete neurodegenerative disease with dementia -MONDO:0007112 interventricular septum aneurysm MONDO:0018771 Orphanet:99092 Orphanet:474347 obsolete congenital anomaly of ventricular septum -MONDO:0007112 interventricular septum aneurysm MONDO:8000030 Orphanet:99092 Orphanet:377791 obsolete morphological anomaly -MONDO:0007113 Angelman syndrome MONDO:0015652 Orphanet:72 Orphanet:166469 obsolete chromosomal anomaly with epilepsy as a major feature -MONDO:0007113 Angelman syndrome MONDO:0020016 Orphanet:72 Orphanet:98033 obsolete rare neurologic disease with psychiatric involvement -MONDO:0007113 Angelman syndrome MONDO:0035863 Orphanet:72 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0007113 Angelman syndrome MONDO:8000032 Orphanet:72 Orphanet:377789 obsolete malformation syndrome -MONDO:0007114 Angel-shaped phalango-epiphyseal dysplasia MONDO:8000032 Orphanet:63442 Orphanet:377789 obsolete malformation syndrome -MONDO:0007116 hereditary neurocutaneous angioma MONDO:0015145 Orphanet:1062 Orphanet:102006 obsolete neurovascular malformation -MONDO:0007116 hereditary neurocutaneous angioma MONDO:0015658 Orphanet:1062 Orphanet:166487 obsolete cerebral diseases of vascular origin with epilepsy -MONDO:0007116 hereditary neurocutaneous angioma MONDO:0016228 Orphanet:1062 Orphanet:211237 obsolete rare vascular tumor -MONDO:0007116 hereditary neurocutaneous angioma MONDO:0018729 Orphanet:1062 Orphanet:459543 obsolete genetic vascular tumor -MONDO:0007116 hereditary neurocutaneous angioma MONDO:0020063 Orphanet:1062 Orphanet:98196 obsolete malformation syndrome with hamartosis -MONDO:0007116 hereditary neurocutaneous angioma MONDO:0031949 Orphanet:1062 Orphanet:371436 obsolete genetic neurovascular malformation -MONDO:0007118 isolated anhidrosis with normal sweat glands MONDO:0015949 Orphanet:468666 Orphanet:183484 obsolete rare genetic subcutaneous tissue disorder -MONDO:0007118 isolated anhidrosis with normal sweat glands MONDO:0018798 Orphanet:468666 Orphanet:477808 obsolete other genetic dermis disorder -MONDO:0007119 isolated aniridia MONDO:0020225 Orphanet:250923 Orphanet:98641 obsolete syndromic cataract -MONDO:0007119 isolated aniridia MONDO:8000030 Orphanet:250923 Orphanet:377791 obsolete morphological anomaly -MONDO:0007120 aniridia-absent patella syndrome MONDO:0020148 Orphanet:1069 Orphanet:98557 obsolete syndromic aniridia -MONDO:0007120 aniridia-absent patella syndrome MONDO:0020222 Orphanet:1069 Orphanet:98638 obsolete rare disease with glaucoma as a major feature -MONDO:0007120 aniridia-absent patella syndrome MONDO:8000032 Orphanet:1069 Orphanet:377789 obsolete malformation syndrome -MONDO:0007123 ankyloblepharon filiforme adnatum-cleft palate syndrome MONDO:8000031 Orphanet:1072 Orphanet:557494 obsolete subtype of a disorder -MONDO:0007124 ankyloblepharon-ectodermal defects-cleft lip/palate syndrome MONDO:0015501 Orphanet:1071 Orphanet:156237 obsolete syndrome or malformation associated with head and neck malformations -MONDO:0007124 ankyloblepharon-ectodermal defects-cleft lip/palate syndrome MONDO:0017432 Orphanet:1071 Orphanet:294955 obsolete syndrome with limb reduction defects -MONDO:0007124 ankyloblepharon-ectodermal defects-cleft lip/palate syndrome MONDO:0020156 Orphanet:1071 Orphanet:98565 obsolete syndromic ankyloblepharon -MONDO:0007124 ankyloblepharon-ectodermal defects-cleft lip/palate syndrome MONDO:8000032 Orphanet:1071 Orphanet:377789 obsolete malformation syndrome -MONDO:0007127 diffuse idiopathic skeletal hyperostosis MONDO:0019711 Orphanet:2206 Orphanet:93454 obsolete dysostosis with predominant vertebral and costal involvement -MONDO:0007127 diffuse idiopathic skeletal hyperostosis MONDO:8000032 Orphanet:2206 Orphanet:377789 obsolete malformation syndrome -MONDO:0007130 congenital total pulmonary venous return anomaly MONDO:8000030 Orphanet:99125 Orphanet:377791 obsolete morphological anomaly -MONDO:0007131 anonychia with flexural pigmentation MONDO:0019285 Orphanet:69125 Orphanet:79370 obsolete syndromic nail anomaly -MONDO:0007131 anonychia with flexural pigmentation MONDO:8000032 Orphanet:69125 Orphanet:377789 obsolete malformation syndrome -MONDO:0007134 Cooks syndrome MONDO:0019285 Orphanet:1487 Orphanet:79370 obsolete syndromic nail anomaly -MONDO:0007134 Cooks syndrome MONDO:0800093 Orphanet:1487 Orphanet:498451 obsolete dysostosis with brachydactyly without extraskeletal manifestations -MONDO:0007134 Cooks syndrome MONDO:8000032 Orphanet:1487 Orphanet:377789 obsolete malformation syndrome -MONDO:0007137 isolated congenital anosmia MONDO:0020017 Orphanet:88620 Orphanet:98036 obsolete rare otorhinolaryngologic disease -MONDO:0007142 Townes-Brocks syndrome MONDO:0015246 Orphanet:857 Orphanet:117573 obsolete syndromic anorectal malformation -MONDO:0007142 Townes-Brocks syndrome MONDO:0015334 Orphanet:857 Orphanet:139036 obsolete branchial arch or oral-acral syndrome -MONDO:0007142 Townes-Brocks syndrome MONDO:0015495 Orphanet:857 Orphanet:156202 obsolete otomandibular dysplasia associated with monogenic syndromes -MONDO:0007142 Townes-Brocks syndrome MONDO:0017434 Orphanet:857 Orphanet:294959 obsolete syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy -MONDO:0007142 Townes-Brocks syndrome MONDO:0019589 Orphanet:857 Orphanet:90642 obsolete syndromic genetic hearing loss -MONDO:0007142 Townes-Brocks syndrome MONDO:0019721 Orphanet:857 Orphanet:93547 obsolete syndromic renal or urinary tract malformation -MONDO:0007142 Townes-Brocks syndrome MONDO:0026189 Orphanet:857 Orphanet:183576 obsolete genetic branchial arch or oral-acral syndrome -MONDO:0007142 Townes-Brocks syndrome MONDO:0035863 Orphanet:857 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0007142 Townes-Brocks syndrome MONDO:0043008 Orphanet:857 Orphanet:330206 obsolete genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability -MONDO:0007142 Townes-Brocks syndrome MONDO:8000032 Orphanet:857 Orphanet:377789 obsolete malformation syndrome -MONDO:0007143 aortic arch anomaly-facial dysmorphism-intellectual disability syndrome MONDO:0035863 Orphanet:1110 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0007143 aortic arch anomaly-facial dysmorphism-intellectual disability syndrome MONDO:8000032 Orphanet:1110 Orphanet:377789 obsolete malformation syndrome -MONDO:0007145 aplasia cutis congenita MONDO:0020018 Orphanet:1114 Orphanet:98038 obsolete cranial malformation -MONDO:0007145 aplasia cutis congenita MONDO:0026182 Orphanet:1114 Orphanet:183542 obsolete genetic cranial malformation -MONDO:0007145 aplasia cutis congenita MONDO:0957001 Orphanet:1114 Orphanet:183481 obsolete hereditary mixed dermis disorder -MONDO:0007145 aplasia cutis congenita MONDO:8000032 Orphanet:1114 Orphanet:377789 obsolete malformation syndrome -MONDO:0007154 arteriovenous malformations of the brain MONDO:0015145 Orphanet:46724 Orphanet:102006 obsolete neurovascular malformation -MONDO:0007154 arteriovenous malformations of the brain MONDO:0016229 Orphanet:46724 Orphanet:211240 obsolete hereditary vascular anomaly -MONDO:0007154 arteriovenous malformations of the brain MONDO:0016234 Orphanet:46724 Orphanet:211266 obsolete rare arteriovenous malformation -MONDO:0007154 arteriovenous malformations of the brain MONDO:0031949 Orphanet:46724 Orphanet:371436 obsolete genetic neurovascular malformation -MONDO:0007154 arteriovenous malformations of the brain MONDO:8000030 Orphanet:46724 Orphanet:377791 obsolete morphological anomaly -MONDO:0007158 arthrogryposis- oculomotor limitation-electroretinal anomalies syndrome MONDO:8000032 Orphanet:1154 Orphanet:377789 obsolete malformation syndrome -MONDO:0007159 arthrogryposis-like hand anomaly-sensorineural deafness syndrome MONDO:0019589 Orphanet:1144 Orphanet:90642 obsolete syndromic genetic hearing loss -MONDO:0007159 arthrogryposis-like hand anomaly-sensorineural deafness syndrome MONDO:8000032 Orphanet:1144 Orphanet:377789 obsolete malformation syndrome -MONDO:0007160 Stickler syndrome type 1 MONDO:0020232 Orphanet:90653 Orphanet:98648 obsolete musculoskeletal disease with cataract -MONDO:0007160 Stickler syndrome type 1 MONDO:8000031 Orphanet:90653 Orphanet:557494 obsolete subtype of a disorder -MONDO:0007167 atelosteogenesis type I MONDO:0024149 Orphanet:1190 Orphanet:138055 obsolete Pierre Robin syndrome associated with bone disease -MONDO:0007167 atelosteogenesis type I MONDO:0800086 Orphanet:1190 Orphanet:93441 obsolete primary bone dysplasia with multiple joint dislocations -MONDO:0007167 atelosteogenesis type I MONDO:8000032 Orphanet:1190 Orphanet:377789 obsolete malformation syndrome -MONDO:0007168 atelosteogenesis type III MONDO:0024149 Orphanet:56305 Orphanet:138055 obsolete Pierre Robin syndrome associated with bone disease -MONDO:0007168 atelosteogenesis type III MONDO:0035863 Orphanet:56305 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0007168 atelosteogenesis type III MONDO:0800086 Orphanet:56305 Orphanet:93441 obsolete primary bone dysplasia with multiple joint dislocations -MONDO:0007168 atelosteogenesis type III MONDO:8000032 Orphanet:56305 Orphanet:377789 obsolete malformation syndrome -MONDO:0007173 atrial septal defect 7 MONDO:0015110 Orphanet:1479 Orphanet:101934 obsolete genetic cardiac rhythm disease -MONDO:0007173 atrial septal defect 7 MONDO:0015506 Orphanet:1479 Orphanet:156532 obsolete rare syndrome with cardiac malformations -MONDO:0007173 atrial septal defect 7 MONDO:8000032 Orphanet:1479 Orphanet:377789 obsolete malformation syndrome -MONDO:0007174 Lown-Ganong-Levine syndrome MONDO:0015110 Orphanet:844 Orphanet:101934 obsolete genetic cardiac rhythm disease -MONDO:0007177 auriculoosteodysplasia MONDO:0800086 Orphanet:114 Orphanet:93441 obsolete primary bone dysplasia with multiple joint dislocations -MONDO:0007177 auriculoosteodysplasia MONDO:8000032 Orphanet:114 Orphanet:377789 obsolete malformation syndrome -MONDO:0007185 Banki syndrome MONDO:0800095 Orphanet:1228 Orphanet:93459 obsolete syndrome with synostosis or other joint formation defect -MONDO:0007185 Banki syndrome MONDO:8000032 Orphanet:1228 Orphanet:377789 obsolete malformation syndrome -MONDO:0007187 nevoid basal cell carcinoma syndrome MONDO:0015950 Orphanet:377 Orphanet:183487 obsolete inherited skin tumor -MONDO:0007187 nevoid basal cell carcinoma syndrome MONDO:0016756 Orphanet:377 Orphanet:252190 obsolete inherited nervous system cancer-predisposing syndrome -MONDO:0007187 nevoid basal cell carcinoma syndrome MONDO:0019300 Orphanet:377 Orphanet:79386 obsolete rare skin tumor or hamartoma -MONDO:0007187 nevoid basal cell carcinoma syndrome MONDO:0020063 Orphanet:377 Orphanet:98196 obsolete malformation syndrome with hamartosis -MONDO:0007187 nevoid basal cell carcinoma syndrome MONDO:8000032 Orphanet:377 Orphanet:377789 obsolete malformation syndrome -MONDO:0007188 primary basilar invagination MONDO:0015141 Orphanet:2285 Orphanet:102000 obsolete disorder of medulla oblongata -MONDO:0007188 primary basilar invagination MONDO:0026173 Orphanet:2285 Orphanet:183515 obsolete rare genetic medullar disease -MONDO:0007188 primary basilar invagination MONDO:8000030 Orphanet:2285 Orphanet:377791 obsolete morphological anomaly -MONDO:0007191 Behcet disease MONDO:0015488 Orphanet:117 Orphanet:156140 obsolete predominantly large-vessel vasculitis -MONDO:0007191 Behcet disease MONDO:0015657 Orphanet:117 Orphanet:166484 obsolete inflammatory and autoimmune disease with epilepsy -MONDO:0007191 Behcet disease MONDO:0017259 Orphanet:117 Orphanet:280926 obsolete systemic diseases with anterior uveitis -MONDO:0007191 Behcet disease MONDO:0017260 Orphanet:117 Orphanet:280930 obsolete systemic diseases with posterior uveitis -MONDO:0007191 Behcet disease MONDO:0017261 Orphanet:117 Orphanet:280933 obsolete systemic diseases with panuveitis -MONDO:0007191 Behcet disease MONDO:0017370 Orphanet:117 Orphanet:290842 obsolete autoinflammatory syndrome with skin involvement -MONDO:0007191 Behcet disease MONDO:0017957 Orphanet:117 Orphanet:324936 obsolete unclassified autoinflammatory syndrome -MONDO:0007194 familial bicuspid aortic valve MONDO:0017131 Orphanet:402075 Orphanet:271853 obsolete hereditary cardiac anomaly -MONDO:0007194 familial bicuspid aortic valve MONDO:0017311 Orphanet:402075 Orphanet:285014 obsolete rare disease with thoracic aortic aneurysm and aortic dissection -MONDO:0007194 familial bicuspid aortic valve MONDO:0020286 Orphanet:402075 Orphanet:98718 obsolete aortic malformation -MONDO:0007194 familial bicuspid aortic valve MONDO:8000030 Orphanet:402075 Orphanet:377791 obsolete morphological anomaly -MONDO:0007198 Ascher syndrome MONDO:0015331 Orphanet:1253 Orphanet:139027 obsolete malformation syndrome with skin/mucosae involvement -MONDO:0007198 Ascher syndrome MONDO:0020158 Orphanet:1253 Orphanet:98567 obsolete eyelids malposition disorder -MONDO:0007198 Ascher syndrome MONDO:0043008 Orphanet:1253 Orphanet:330206 obsolete genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability -MONDO:0007198 Ascher syndrome MONDO:8000032 Orphanet:1253 Orphanet:377789 obsolete malformation syndrome -MONDO:0007200 blepharonasofacial malformation syndrome MONDO:0015503 Orphanet:1252 Orphanet:156246 obsolete nose and cavum anomaly -MONDO:0007200 blepharonasofacial malformation syndrome MONDO:0033334 Orphanet:1252 Orphanet:435606 obsolete genetic nose and cavum anomaly -MONDO:0007200 blepharonasofacial malformation syndrome MONDO:0035863 Orphanet:1252 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0007200 blepharonasofacial malformation syndrome MONDO:8000032 Orphanet:1252 Orphanet:377789 obsolete malformation syndrome -MONDO:0007201 blepharophimosis, ptosis, and epicanthus inversus syndrome MONDO:0020169 Orphanet:126 Orphanet:98578 obsolete rare disorder with ptosis -MONDO:0007201 blepharophimosis, ptosis, and epicanthus inversus syndrome MONDO:8000032 Orphanet:126 Orphanet:377789 obsolete malformation syndrome -MONDO:0007202 blepharoptosis-myopia-ectopia lentis syndrome MONDO:0020222 Orphanet:1259 Orphanet:98638 obsolete rare disease with glaucoma as a major feature -MONDO:0007202 blepharoptosis-myopia-ectopia lentis syndrome MONDO:0034937 Orphanet:1259 Orphanet:519292 obsolete syndromic ectopia lentis -MONDO:0007203 blue rubber bleb nevus MONDO:0015948 Orphanet:1059 Orphanet:183478 obsolete rare genetic skin vascular disorder -MONDO:0007203 blue rubber bleb nevus MONDO:0016232 Orphanet:1059 Orphanet:211252 obsolete rare venous malformation -MONDO:0007203 blue rubber bleb nevus MONDO:0018730 Orphanet:1059 Orphanet:459548 obsolete rare genetic venous malformation -MONDO:0007203 blue rubber bleb nevus MONDO:8000032 Orphanet:1059 Orphanet:377789 obsolete malformation syndrome -MONDO:0007205 diaphyseal medullary stenosis-bone malignancy syndrome MONDO:0015959 Orphanet:85182 Orphanet:183527 obsolete inherited syndrome with bone tumors as a major feature -MONDO:0007205 diaphyseal medullary stenosis-bone malignancy syndrome MONDO:0800084 Orphanet:85182 Orphanet:93444 obsolete primary bone dysplasia with increased bone density -MONDO:0007207 Böök syndrome MONDO:8000032 Orphanet:1262 Orphanet:377789 obsolete malformation syndrome -MONDO:0007208 Boomerang dysplasia MONDO:0800086 Orphanet:1263 Orphanet:93441 obsolete primary bone dysplasia with multiple joint dislocations -MONDO:0007209 Weismann-Netter syndrome MONDO:8000032 Orphanet:3344 Orphanet:377789 obsolete malformation syndrome -MONDO:0007211 brachydactyly-arterial hypertension syndrome MONDO:0015512 Orphanet:1276 Orphanet:156629 obsolete genetic hypertension -MONDO:0007211 brachydactyly-arterial hypertension syndrome MONDO:0800094 Orphanet:1276 Orphanet:498454 obsolete dysostosis with brachydactyly with extraskeletal manifestations -MONDO:0007211 brachydactyly-arterial hypertension syndrome MONDO:8000032 Orphanet:1276 Orphanet:377789 obsolete malformation syndrome -MONDO:0007212 brachydactyly-long thumb syndrome MONDO:0015110 Orphanet:2946 Orphanet:101934 obsolete genetic cardiac rhythm disease -MONDO:0007212 brachydactyly-long thumb syndrome MONDO:0800094 Orphanet:2946 Orphanet:498454 obsolete dysostosis with brachydactyly with extraskeletal manifestations -MONDO:0007212 brachydactyly-long thumb syndrome MONDO:8000032 Orphanet:2946 Orphanet:377789 obsolete malformation syndrome -MONDO:0007214 brachydactyly-preaxial hallux varus syndrome MONDO:0800094 Orphanet:1278 Orphanet:498454 obsolete dysostosis with brachydactyly with extraskeletal manifestations -MONDO:0007214 brachydactyly-preaxial hallux varus syndrome MONDO:8000032 Orphanet:1278 Orphanet:377789 obsolete malformation syndrome -MONDO:0007215 brachydactyly type A1 MONDO:0800093 Orphanet:93388 Orphanet:498451 obsolete dysostosis with brachydactyly without extraskeletal manifestations -MONDO:0007215 brachydactyly type A1 MONDO:8000032 Orphanet:93388 Orphanet:377789 obsolete malformation syndrome -MONDO:0007216 brachydactyly type A2 MONDO:0800093 Orphanet:93396 Orphanet:498451 obsolete dysostosis with brachydactyly without extraskeletal manifestations -MONDO:0007216 brachydactyly type A2 MONDO:8000032 Orphanet:93396 Orphanet:377789 obsolete malformation syndrome -MONDO:0007218 brachydactyly type A4 MONDO:0800093 Orphanet:93394 Orphanet:498451 obsolete dysostosis with brachydactyly without extraskeletal manifestations -MONDO:0007218 brachydactyly type A4 MONDO:8000032 Orphanet:93394 Orphanet:377789 obsolete malformation syndrome -MONDO:0007219 Osebold-Remondini syndrome MONDO:0800093 Orphanet:93382 Orphanet:498451 obsolete dysostosis with brachydactyly without extraskeletal manifestations -MONDO:0007219 Osebold-Remondini syndrome MONDO:8000032 Orphanet:93382 Orphanet:377789 obsolete malformation syndrome -MONDO:0007220 brachydactyly type B1 MONDO:8000031 Orphanet:572385 Orphanet:557494 obsolete subtype of a disorder -MONDO:0007221 brachydactyly type C MONDO:0800093 Orphanet:93384 Orphanet:498451 obsolete dysostosis with brachydactyly without extraskeletal manifestations -MONDO:0007221 brachydactyly type C MONDO:8000032 Orphanet:93384 Orphanet:377789 obsolete malformation syndrome -MONDO:0007225 fibular aplasia-ectrodactyly syndrome MONDO:0017433 Orphanet:1118 Orphanet:294957 obsolete dysostosis with combined reduction defects of upper and lower limbs -MONDO:0007225 fibular aplasia-ectrodactyly syndrome MONDO:0800090 Orphanet:1118 Orphanet:498477 obsolete ectrodactyly with and without other manifestations -MONDO:0007225 fibular aplasia-ectrodactyly syndrome MONDO:8000032 Orphanet:1118 Orphanet:377789 obsolete malformation syndrome -MONDO:0007226 brachydactyly-nystagmus-cerebellar ataxia syndrome MONDO:0020253 Orphanet:1246 Orphanet:98683 obsolete syndrome with a symptomatic strabismus -MONDO:0007226 brachydactyly-nystagmus-cerebellar ataxia syndrome MONDO:0035863 Orphanet:1246 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0007226 brachydactyly-nystagmus-cerebellar ataxia syndrome MONDO:8000032 Orphanet:1246 Orphanet:377789 obsolete malformation syndrome -MONDO:0007227 Sillence syndrome MONDO:0017434 Orphanet:3168 Orphanet:294959 obsolete syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy -MONDO:0007227 Sillence syndrome MONDO:8000032 Orphanet:3168 Orphanet:377789 obsolete malformation syndrome -MONDO:0007230 Brachymorphism-onychodysplasia-dysphalangism syndrome MONDO:0035863 Orphanet:1292 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0007230 Brachymorphism-onychodysplasia-dysphalangism syndrome MONDO:0800094 Orphanet:1292 Orphanet:498454 obsolete dysostosis with brachydactyly with extraskeletal manifestations -MONDO:0007230 Brachymorphism-onychodysplasia-dysphalangism syndrome MONDO:8000032 Orphanet:1292 Orphanet:377789 obsolete malformation syndrome -MONDO:0007231 brachytelephalangy-dysmorphism-Kallmann syndrome MONDO:0015890 Orphanet:1295 Orphanet:181387 obsolete rare disorder with congenital hypogonadotropic hypogonadism -MONDO:0007231 brachytelephalangy-dysmorphism-Kallmann syndrome MONDO:0043008 Orphanet:1295 Orphanet:330206 obsolete genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability -MONDO:0007231 brachytelephalangy-dysmorphism-Kallmann syndrome MONDO:0800094 Orphanet:1295 Orphanet:498454 obsolete dysostosis with brachydactyly with extraskeletal manifestations -MONDO:0007231 brachytelephalangy-dysmorphism-Kallmann syndrome MONDO:8000032 Orphanet:1295 Orphanet:377789 obsolete malformation syndrome -MONDO:0007232 autosomal dominant brachyolmia MONDO:8000032 Orphanet:93304 Orphanet:377789 obsolete malformation syndrome -MONDO:0007233 second branchial cleft anomaly MONDO:8000030 Orphanet:141022 Orphanet:377791 obsolete morphological anomaly -MONDO:0007235 branchiooculofacial syndrome MONDO:0015335 Orphanet:1297 Orphanet:139039 obsolete Mendelian syndromes with cleft lip/palate -MONDO:0007235 branchiooculofacial syndrome MONDO:0043008 Orphanet:1297 Orphanet:330206 obsolete genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability -MONDO:0007235 branchiooculofacial syndrome MONDO:8000032 Orphanet:1297 Orphanet:377789 obsolete malformation syndrome -MONDO:0007237 familial juvenile hypertrophy of the breast MONDO:0015852 Orphanet:180176 Orphanet:180170 obsolete excess breast volume or number -MONDO:0007237 familial juvenile hypertrophy of the breast MONDO:8000030 Orphanet:180176 Orphanet:377791 obsolete morphological anomaly -MONDO:0007244 Caffey disease MONDO:8000032 Orphanet:1310 Orphanet:377789 obsolete malformation syndrome -MONDO:0007245 cafe au lait spots, multiple MONDO:8000032 Orphanet:2678 Orphanet:377789 obsolete malformation syndrome -MONDO:0007248 hereditary painful callosities MONDO:0017673 Orphanet:79141 Orphanet:307846 obsolete isolated focal palmoplantar keratoderma -MONDO:0007249 camptobrachydactyly MONDO:0800093 Orphanet:1319 Orphanet:498451 obsolete dysostosis with brachydactyly without extraskeletal manifestations -MONDO:0007249 camptobrachydactyly MONDO:8000032 Orphanet:1319 Orphanet:377789 obsolete malformation syndrome -MONDO:0007250 camptodactyly of fingers MONDO:0017428 Orphanet:295016 Orphanet:294947 obsolete congenital deformities of fingers -MONDO:0007250 camptodactyly of fingers MONDO:8000030 Orphanet:295016 Orphanet:377791 obsolete morphological anomaly -MONDO:0007251 campomelic dysplasia MONDO:0017978 Orphanet:140 Orphanet:325638 obsolete syndrome with disorder of sex development of gynecological interest -MONDO:0007251 campomelic dysplasia MONDO:0020042 Orphanet:140 Orphanet:98087 obsolete syndrome with 46,XY disorder of sex development -MONDO:0007251 campomelic dysplasia MONDO:0035863 Orphanet:140 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0007251 campomelic dysplasia MONDO:8000032 Orphanet:140 Orphanet:377789 obsolete malformation syndrome -MONDO:0007252 Gordon syndrome MONDO:0015335 Orphanet:376 Orphanet:139039 obsolete Mendelian syndromes with cleft lip/palate -MONDO:0007252 Gordon syndrome MONDO:0043008 Orphanet:376 Orphanet:330206 obsolete genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability -MONDO:0007252 Gordon syndrome MONDO:8000032 Orphanet:376 Orphanet:377789 obsolete malformation syndrome -MONDO:0007259 craniofaciofrontodigital syndrome MONDO:0035863 Orphanet:363705 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0007259 craniofaciofrontodigital syndrome MONDO:0800085 Orphanet:363705 Orphanet:93453 obsolete dysostosis with predominant craniofacial involvement -MONDO:0007269 dilated cardiomyopathy 1A MONDO:0029810 Orphanet:300751 Orphanet:300755 obsolete laminopathy with striated muscle involvement -MONDO:0007272 hereditary hypercarotenemia and vitamin A deficiency MONDO:0017760 Orphanet:199285 Orphanet:309833 obsolete disorder of other vitamins and cofactors metabolism and transport -MONDO:0007276 cat-eye syndrome MONDO:0015246 Orphanet:195 Orphanet:117573 obsolete syndromic anorectal malformation -MONDO:0007276 cat-eye syndrome MONDO:0016998 Orphanet:195 Orphanet:263708 obsolete complex chromosomal rearrangement -MONDO:0007276 cat-eye syndrome MONDO:0019721 Orphanet:195 Orphanet:93547 obsolete syndromic renal or urinary tract malformation -MONDO:0007276 cat-eye syndrome MONDO:8000032 Orphanet:195 Orphanet:377789 obsolete malformation syndrome -MONDO:0007277 cataract-aberrant oral frenula-growth delay syndrome MONDO:0020225 Orphanet:1373 Orphanet:98641 obsolete syndromic cataract -MONDO:0007277 cataract-aberrant oral frenula-growth delay syndrome MONDO:0043008 Orphanet:1373 Orphanet:330206 obsolete genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability -MONDO:0007277 cataract-aberrant oral frenula-growth delay syndrome MONDO:8000032 Orphanet:1373 Orphanet:377789 obsolete malformation syndrome -MONDO:0007293 leukocyte adhesion deficiency 1 MONDO:8000031 Orphanet:99842 Orphanet:557494 obsolete subtype of a disorder -MONDO:0007294 central core myopathy MONDO:0015765 Orphanet:597 Orphanet:172976 obsolete congenital myopathy with cores -MONDO:0007297 ADan amyloidosis MONDO:8000031 Orphanet:97346 Orphanet:557494 obsolete subtype of a disorder -MONDO:0007301 cerebrocostomandibular syndrome MONDO:0019711 Orphanet:1393 Orphanet:93454 obsolete dysostosis with predominant vertebral and costal involvement -MONDO:0007301 cerebrocostomandibular syndrome MONDO:0035863 Orphanet:1393 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0007301 cerebrocostomandibular syndrome MONDO:8000032 Orphanet:1393 Orphanet:377789 obsolete malformation syndrome -MONDO:0007311 Charcot-Marie-Tooth disease type 1E MONDO:0019589 Orphanet:90658 Orphanet:90642 obsolete syndromic genetic hearing loss -MONDO:0007313 cheilitis glandularis MONDO:0019546 Orphanet:1221 Orphanet:90077 obsolete other acquired skin disease -MONDO:0007315 cherubism MONDO:0017369 Orphanet:184 Orphanet:290839 obsolete autoinflammatory syndrome with immune deficiency -MONDO:0007315 cherubism MONDO:0017957 Orphanet:184 Orphanet:324936 obsolete unclassified autoinflammatory syndrome -MONDO:0007315 cherubism MONDO:0020014 Orphanet:184 Orphanet:98027 obsolete rare disease with odontological manifestation -MONDO:0007315 cherubism MONDO:0043008 Orphanet:184 Orphanet:330206 obsolete genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability -MONDO:0007315 cherubism MONDO:0800089 Orphanet:184 Orphanet:93450 obsolete primary bone dysplasia with disorganized development of skeletal components -MONDO:0007315 cherubism MONDO:8000032 Orphanet:184 Orphanet:377789 obsolete malformation syndrome -MONDO:0007316 Chiari malformation type I MONDO:0017085 Orphanet:268882 Orphanet:268843 obsolete malformation of the neurenteric canal, spinal cord and column -MONDO:0007316 Chiari malformation type I MONDO:8000030 Orphanet:268882 Orphanet:377791 obsolete morphological anomaly -MONDO:0007318 Alagille syndrome MONDO:0015116 Orphanet:52 Orphanet:101941 obsolete rare biliary tract disease -MONDO:0007318 Alagille syndrome MONDO:0015214 Orphanet:52 Orphanet:108973 obsolete syndromic visceral malformation -MONDO:0007318 Alagille syndrome MONDO:0015506 Orphanet:52 Orphanet:156532 obsolete rare syndrome with cardiac malformations -MONDO:0007318 Alagille syndrome MONDO:0015509 Orphanet:52 Orphanet:156607 obsolete hereditary biliary tract disease -MONDO:0007318 Alagille syndrome MONDO:0015945 Orphanet:52 Orphanet:183422 obsolete polymalformative genetic syndrome with increased risk of developing cancer -MONDO:0007318 Alagille syndrome MONDO:0019721 Orphanet:52 Orphanet:93547 obsolete syndromic renal or urinary tract malformation -MONDO:0007318 Alagille syndrome MONDO:0043008 Orphanet:52 Orphanet:330206 obsolete genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability -MONDO:0007318 Alagille syndrome MONDO:8000032 Orphanet:52 Orphanet:377789 obsolete malformation syndrome -MONDO:0007319 chondrocalcinosis 2 MONDO:0015940 Orphanet:1416 Orphanet:182231 obsolete rare rheumatologic disease -MONDO:0007319 chondrocalcinosis 2 MONDO:0019705 Orphanet:1416 Orphanet:93447 obsolete primary bone dysplasia with defective bone mineralization -MONDO:0007319 chondrocalcinosis 2 MONDO:0028795 Orphanet:1416 Orphanet:271870 obsolete rare genetic systemic or rheumatologic disease -MONDO:0007322 chondrodysplasia punctata, tibial-metacarpal type MONDO:8000032 Orphanet:79346 Orphanet:377789 obsolete malformation syndrome -MONDO:0007330 congenital pseudoarthrosis of clavicle MONDO:0018454 Orphanet:66630 Orphanet:404568 obsolete dysostosis of genetic origin -MONDO:0007334 autosomal dominant popliteal pterygium syndrome MONDO:0035863 Orphanet:1300 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0007334 autosomal dominant popliteal pterygium syndrome MONDO:8000032 Orphanet:1300 Orphanet:377789 obsolete malformation syndrome -MONDO:0007337 cleft palate-lateral synechia syndrome MONDO:0015335 Orphanet:2016 Orphanet:139039 obsolete Mendelian syndromes with cleft lip/palate -MONDO:0007337 cleft palate-lateral synechia syndrome MONDO:0043008 Orphanet:2016 Orphanet:330206 obsolete genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability -MONDO:0007337 cleft palate-lateral synechia syndrome MONDO:8000032 Orphanet:2016 Orphanet:377789 obsolete malformation syndrome -MONDO:0007338 cleft soft palate MONDO:8000030 Orphanet:99772 Orphanet:377791 obsolete morphological anomaly -MONDO:0007339 blepharocheilodontic syndrome MONDO:0015335 Orphanet:1997 Orphanet:139039 obsolete Mendelian syndromes with cleft lip/palate -MONDO:0007339 blepharocheilodontic syndrome MONDO:0015336 Orphanet:1997 Orphanet:139042 obsolete malformation syndrome with odontal and/or periodontal component -MONDO:0007339 blepharocheilodontic syndrome MONDO:0026190 Orphanet:1997 Orphanet:183580 obsolete genetic malformation syndrome with odontal and/or periodontal component -MONDO:0007339 blepharocheilodontic syndrome MONDO:0043008 Orphanet:1997 Orphanet:330206 obsolete genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability -MONDO:0007339 blepharocheilodontic syndrome MONDO:8000032 Orphanet:1997 Orphanet:377789 obsolete malformation syndrome -MONDO:0007340 cleidocranial dysplasia 1 MONDO:0015336 Orphanet:1452 Orphanet:139042 obsolete malformation syndrome with odontal and/or periodontal component -MONDO:0007340 cleidocranial dysplasia 1 MONDO:0019709 Orphanet:1452 Orphanet:93451 obsolete cleidocranial dysplasia and isolated cranial ossification defect -MONDO:0007340 cleidocranial dysplasia 1 MONDO:0020018 Orphanet:1452 Orphanet:98038 obsolete cranial malformation -MONDO:0007340 cleidocranial dysplasia 1 MONDO:0026182 Orphanet:1452 Orphanet:183542 obsolete genetic cranial malformation -MONDO:0007340 cleidocranial dysplasia 1 MONDO:8000032 Orphanet:1452 Orphanet:377789 obsolete malformation syndrome -MONDO:0007341 cleidorhizomelic syndrome MONDO:0019697 Orphanet:1453 Orphanet:93438 obsolete mesomelic and rhizo-mesomelic dysplasia -MONDO:0007341 cleidorhizomelic syndrome MONDO:8000032 Orphanet:1453 Orphanet:377789 obsolete malformation syndrome -MONDO:0007343 isolated congenital digital clubbing MONDO:0017429 Orphanet:217059 Orphanet:294949 obsolete joint formation defects -MONDO:0007343 isolated congenital digital clubbing MONDO:8000030 Orphanet:217059 Orphanet:377791 obsolete morphological anomaly -MONDO:0007345 aorta coarctation MONDO:0020286 Orphanet:1457 Orphanet:98718 obsolete aortic malformation -MONDO:0007345 aorta coarctation MONDO:8000030 Orphanet:1457 Orphanet:377791 obsolete morphological anomaly -MONDO:0007346 cochleosaccular degeneration-cataract syndrome MONDO:0019589 Orphanet:3233 Orphanet:90642 obsolete syndromic genetic hearing loss -MONDO:0007346 cochleosaccular degeneration-cataract syndrome MONDO:0020225 Orphanet:3233 Orphanet:98641 obsolete syndromic cataract -MONDO:0007346 cochleosaccular degeneration-cataract syndrome MONDO:8000032 Orphanet:3233 Orphanet:377789 obsolete malformation syndrome -MONDO:0007351 coloboma of macula MONDO:0020145 Orphanet:98945 Orphanet:98553 obsolete developmental defect of the eye -MONDO:0007351 coloboma of macula MONDO:0026186 Orphanet:98945 Orphanet:183557 obsolete genetic developmental defect of the eye -MONDO:0007351 coloboma of macula MONDO:8000030 Orphanet:98945 Orphanet:377791 obsolete morphological anomaly -MONDO:0007352 renal coloboma syndrome MONDO:0019721 Orphanet:1475 Orphanet:93547 obsolete syndromic renal or urinary tract malformation -MONDO:0007352 renal coloboma syndrome MONDO:8000032 Orphanet:1475 Orphanet:377789 obsolete malformation syndrome -MONDO:0007353 coloboma of macula-brachydactyly type B syndrome MONDO:0020145 Orphanet:1471 Orphanet:98553 obsolete developmental defect of the eye -MONDO:0007353 coloboma of macula-brachydactyly type B syndrome MONDO:0026186 Orphanet:1471 Orphanet:183557 obsolete genetic developmental defect of the eye -MONDO:0007353 coloboma of macula-brachydactyly type B syndrome MONDO:8000032 Orphanet:1471 Orphanet:377789 obsolete malformation syndrome -MONDO:0007354 coloboma of optic nerve MONDO:8000030 Orphanet:98947 Orphanet:377791 obsolete morphological anomaly -MONDO:0007355 uveal coloboma-cleft lip and palate-intellectual disability MONDO:0015335 Orphanet:1473 Orphanet:139039 obsolete Mendelian syndromes with cleft lip/palate -MONDO:0007355 uveal coloboma-cleft lip and palate-intellectual disability MONDO:0035863 Orphanet:1473 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0007355 uveal coloboma-cleft lip and palate-intellectual disability MONDO:8000032 Orphanet:1473 Orphanet:377789 obsolete malformation syndrome -MONDO:0007363 congenital contractural arachnodactyly MONDO:0800091 Orphanet:115 Orphanet:498448 obsolete overgrowth or tall stature syndrome with skeletal involvement -MONDO:0007363 congenital contractural arachnodactyly MONDO:8000032 Orphanet:115 Orphanet:377789 obsolete malformation syndrome -MONDO:0007382 Ramos-Arroyo syndrome MONDO:0019589 Orphanet:1051 Orphanet:90642 obsolete syndromic genetic hearing loss -MONDO:0007382 Ramos-Arroyo syndrome MONDO:0034953 Orphanet:1051 Orphanet:519325 obsolete syndromic inherited retinal disorder -MONDO:0007382 Ramos-Arroyo syndrome MONDO:0035863 Orphanet:1051 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0007382 Ramos-Arroyo syndrome MONDO:8000032 Orphanet:1051 Orphanet:377789 obsolete malformation syndrome -MONDO:0007383 Stern-Lubinsky-Durrie syndrome MONDO:0020215 Orphanet:3194 Orphanet:98628 obsolete syndromic corneal dystrophy -MONDO:0007383 Stern-Lubinsky-Durrie syndrome MONDO:8000032 Orphanet:3194 Orphanet:377789 obsolete malformation syndrome -MONDO:0007384 congenital trigeminal anesthesia MONDO:0034965 Orphanet:231013 Orphanet:519349 obsolete rare ophthalmic disorder with cranial nerve involvement -MONDO:0007385 idiopathic spontaneous coronary artery dissection MONDO:0024471 Orphanet:458718 Orphanet:496924 obsolete non-inflammatory vasculopathy -MONDO:0007388 congenitally short costocoracoid ligament MONDO:8000032 Orphanet:2391 Orphanet:377789 obsolete malformation syndrome -MONDO:0007392 coxoauricular syndrome MONDO:0800086 Orphanet:1508 Orphanet:93441 obsolete primary bone dysplasia with multiple joint dislocations -MONDO:0007392 coxoauricular syndrome MONDO:8000032 Orphanet:1508 Orphanet:377789 obsolete malformation syndrome -MONDO:0007395 craniofacial-deafness-hand syndrome MONDO:0019589 Orphanet:1529 Orphanet:90642 obsolete syndromic genetic hearing loss -MONDO:0007395 craniofacial-deafness-hand syndrome MONDO:0043008 Orphanet:1529 Orphanet:330206 obsolete genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability -MONDO:0007395 craniofacial-deafness-hand syndrome MONDO:8000032 Orphanet:1529 Orphanet:377789 obsolete malformation syndrome -MONDO:0007396 dysostosis, Stanescu type MONDO:0800084 Orphanet:1798 Orphanet:93444 obsolete primary bone dysplasia with increased bone density -MONDO:0007396 dysostosis, Stanescu type MONDO:8000032 Orphanet:1798 Orphanet:377789 obsolete malformation syndrome -MONDO:0007398 craniorhiny MONDO:0015503 Orphanet:157832 Orphanet:156246 obsolete nose and cavum anomaly -MONDO:0007398 craniorhiny MONDO:8000032 Orphanet:157832 Orphanet:377789 obsolete malformation syndrome -MONDO:0007400 Jackson-Weiss syndrome MONDO:8000032 Orphanet:1540 Orphanet:377789 obsolete malformation syndrome -MONDO:0007401 craniosynostosis-Dandy-Walker malformation-hydrocephalus syndrome MONDO:0017121 Orphanet:1538 Orphanet:269546 obsolete syndrome with a Dandy-Walker malformation as major feature -MONDO:0007401 craniosynostosis-Dandy-Walker malformation-hydrocephalus syndrome MONDO:8000032 Orphanet:1538 Orphanet:377789 obsolete malformation syndrome -MONDO:0007403 inherited Creutzfeldt-Jakob disease MONDO:0017234 Orphanet:282166 Orphanet:280400 obsolete inherited prion disease -MONDO:0007403 inherited Creutzfeldt-Jakob disease MONDO:0017641 Orphanet:282166 Orphanet:306695 obsolete miscellaneous movement disorder due to neurodegenerative disease -MONDO:0007403 inherited Creutzfeldt-Jakob disease MONDO:0017662 Orphanet:282166 Orphanet:307058 obsolete miscellaneous movement disorder due to genetic neurodegenerative disease -MONDO:0007404 Cri-du-chat syndrome MONDO:0020165 Orphanet:281 Orphanet:98574 obsolete syndromic epicanthus -MONDO:0007404 Cri-du-chat syndrome MONDO:0020226 Orphanet:281 Orphanet:98642 obsolete chromosomal anomaly with cataract -MONDO:0007404 Cri-du-chat syndrome MONDO:8000032 Orphanet:281 Orphanet:377789 obsolete malformation syndrome -MONDO:0007405 Crouzon syndrome MONDO:0020234 Orphanet:207 Orphanet:98650 obsolete craniofacial anomaly with cataract -MONDO:0007405 Crouzon syndrome MONDO:0020254 Orphanet:207 Orphanet:98684 obsolete craniostenosis associated with a strabismus -MONDO:0007405 Crouzon syndrome MONDO:8000032 Orphanet:207 Orphanet:377789 obsolete malformation syndrome -MONDO:0007407 Cryoglobulinemic vasculitis MONDO:0016177 Orphanet:91138 Orphanet:209007 obsolete systemic inflammatory disease associated with an acquired peripheral neuropathy -MONDO:0007407 Cryoglobulinemic vasculitis MONDO:0017038 Orphanet:91138 Orphanet:264973 obsolete secondary interstitial lung disease in childhood and adulthood associated with a systemic vasculitis -MONDO:0007409 cryptomicrotia-brachydactyly-excess fingertip arch syndrome MONDO:0043008 Orphanet:1547 Orphanet:330206 obsolete genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability -MONDO:0007409 cryptomicrotia-brachydactyly-excess fingertip arch syndrome MONDO:8000032 Orphanet:1547 Orphanet:377789 obsolete malformation syndrome -MONDO:0007410 isolated cryptophthalmia MONDO:8000030 Orphanet:91396 Orphanet:377791 obsolete morphological anomaly -MONDO:0007412 Beare-Stevenson cutis gyrata syndrome MONDO:0018798 Orphanet:1555 Orphanet:477808 obsolete other genetic dermis disorder -MONDO:0007412 Beare-Stevenson cutis gyrata syndrome MONDO:0043008 Orphanet:1555 Orphanet:330206 obsolete genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability -MONDO:0007412 Beare-Stevenson cutis gyrata syndrome MONDO:8000032 Orphanet:1555 Orphanet:377789 obsolete malformation syndrome -MONDO:0007413 Cyprus facial-neuromusculoskeletal syndrome MONDO:0020225 Orphanet:2674 Orphanet:98641 obsolete syndromic cataract -MONDO:0007413 Cyprus facial-neuromusculoskeletal syndrome MONDO:0020253 Orphanet:2674 Orphanet:98683 obsolete syndrome with a symptomatic strabismus -MONDO:0007413 Cyprus facial-neuromusculoskeletal syndrome MONDO:0043008 Orphanet:2674 Orphanet:330206 obsolete genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability -MONDO:0007413 Cyprus facial-neuromusculoskeletal syndrome MONDO:8000032 Orphanet:2674 Orphanet:377789 obsolete malformation syndrome -MONDO:0007414 Gorham-Stout disease MONDO:0015940 Orphanet:73 Orphanet:182231 obsolete rare rheumatologic disease -MONDO:0007414 Gorham-Stout disease MONDO:0016524 Orphanet:73 Orphanet:235832 obsolete congenital vascular bone syndrome -MONDO:0007414 Gorham-Stout disease MONDO:0800089 Orphanet:73 Orphanet:93450 obsolete primary bone dysplasia with disorganized development of skeletal components -MONDO:0007414 Gorham-Stout disease MONDO:8000032 Orphanet:73 Orphanet:377789 obsolete malformation syndrome -MONDO:0007417 Darier disease MONDO:0019274 Orphanet:218 Orphanet:79359 obsolete other epidermal disorder -MONDO:0007417 Darier disease MONDO:0019275 Orphanet:218 Orphanet:79360 obsolete other genetic epidermal disease -MONDO:0007420 autosomal dominant deafness - onychodystrophy syndrome MONDO:0017922 Orphanet:79499 Orphanet:3231 obsolete deafness-onychodystrophy syndrome -MONDO:0007420 autosomal dominant deafness - onychodystrophy syndrome MONDO:8000032 Orphanet:79499 Orphanet:377789 obsolete malformation syndrome -MONDO:0007421 deafness-ear malformation-facial palsy syndrome MONDO:0019589 Orphanet:3232 Orphanet:90642 obsolete syndromic genetic hearing loss -MONDO:0007421 deafness-ear malformation-facial palsy syndrome MONDO:8000032 Orphanet:3232 Orphanet:377789 obsolete malformation syndrome -MONDO:0007422 keratoderma hereditarium mutilans MONDO:0017670 Orphanet:494 Orphanet:307773 obsolete autosomal dominant diffuse mutilating palmoplantar keratoderma -MONDO:0007422 keratoderma hereditarium mutilans MONDO:0019589 Orphanet:494 Orphanet:90642 obsolete syndromic genetic hearing loss -MONDO:0007428 deafness-craniofacial syndrome MONDO:0019589 Orphanet:3241 Orphanet:90642 obsolete syndromic genetic hearing loss -MONDO:0007428 deafness-craniofacial syndrome MONDO:0043008 Orphanet:3241 Orphanet:330206 obsolete genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability -MONDO:0007428 deafness-craniofacial syndrome MONDO:8000032 Orphanet:3241 Orphanet:377789 obsolete malformation syndrome -MONDO:0007434 primary failure of tooth eruption MONDO:0015603 Orphanet:412206 Orphanet:164001 obsolete rare odontal or periodontal disorder -MONDO:0007434 primary failure of tooth eruption MONDO:0018488 Orphanet:412206 Orphanet:420755 obsolete rare genetic odontal or periodontal disorder -MONDO:0007436 dentin dysplasia type I MONDO:8000031 Orphanet:99789 Orphanet:557494 obsolete subtype of a disorder -MONDO:0007437 dentin dysplasia type II MONDO:8000031 Orphanet:99791 Orphanet:557494 obsolete subtype of a disorder -MONDO:0007438 dentin dysplasia-sclerotic bones syndrome MONDO:0019183 Orphanet:99792 Orphanet:77830 obsolete inherited odontologic disease -MONDO:0007438 dentin dysplasia-sclerotic bones syndrome MONDO:0020014 Orphanet:99792 Orphanet:98027 obsolete rare disease with odontological manifestation -MONDO:0007441 dentinogenesis imperfecta type 2 MONDO:8000031 Orphanet:166260 Orphanet:557494 obsolete subtype of a disorder -MONDO:0007442 dentinogenesis imperfecta type 3 MONDO:8000031 Orphanet:166265 Orphanet:557494 obsolete subtype of a disorder -MONDO:0007443 congenital unilateral hypoplasia of depressor anguli oris MONDO:0015475 Orphanet:1166 Orphanet:155832 obsolete rare head and neck malformation -MONDO:0007443 congenital unilateral hypoplasia of depressor anguli oris MONDO:8000030 Orphanet:1166 Orphanet:377791 obsolete morphological anomaly -MONDO:0007445 dermatopathia pigmentosa reticularis MONDO:0020094 Orphanet:86920 Orphanet:98352 obsolete autosomal dominant disease with diffuse palmoplantar keratoderma as a major feature -MONDO:0007447 autosomal dominant vibratory urticaria MONDO:0019298 Orphanet:493342 Orphanet:79384 obsolete rare urticaria -MONDO:0007447 autosomal dominant vibratory urticaria MONDO:0026141 Orphanet:493342 Orphanet:182734 obsolete genetic urticaria -MONDO:0007449 dermo-odonto dysplasia MONDO:0015336 Orphanet:1660 Orphanet:139042 obsolete malformation syndrome with odontal and/or periodontal component -MONDO:0007449 dermo-odonto dysplasia MONDO:0026190 Orphanet:1660 Orphanet:183580 obsolete genetic malformation syndrome with odontal and/or periodontal component -MONDO:0007449 dermo-odonto dysplasia MONDO:8000032 Orphanet:1660 Orphanet:377789 obsolete malformation syndrome -MONDO:0007450 neurohypophyseal diabetes insipidus MONDO:8000031 Orphanet:30925 Orphanet:557494 obsolete subtype of a disorder -MONDO:0007461 short stature-valvular heart disease-characteristic facies syndrome MONDO:0043008 Orphanet:2868 Orphanet:330206 obsolete genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability -MONDO:0007461 short stature-valvular heart disease-characteristic facies syndrome MONDO:8000032 Orphanet:2868 Orphanet:377789 obsolete malformation syndrome -MONDO:0007464 obsolete isolated distichiasis MONDO:0020184 Orphanet:99177 Orphanet:98594 obsolete rare eyebrow/eyelashes anomaly -MONDO:0007464 obsolete isolated distichiasis MONDO:8000030 Orphanet:99177 Orphanet:377791 obsolete morphological anomaly -MONDO:0007470 calvarial doughnut lesions-bone fragility syndrome MONDO:0019704 Orphanet:85192 Orphanet:93446 obsolete primary bone dysplasia with decreased bone density -MONDO:0007470 calvarial doughnut lesions-bone fragility syndrome MONDO:8000032 Orphanet:85192 Orphanet:377789 obsolete malformation syndrome -MONDO:0007473 Duane retraction syndrome MONDO:0020132 Orphanet:233 Orphanet:98518 obsolete cranial nerve and nuclear aplasia -MONDO:0007473 Duane retraction syndrome MONDO:0034961 Orphanet:233 Orphanet:519341 obsolete rare brainstem or cerebellar disorder with ophthalmic involvement as a major feature -MONDO:0007473 Duane retraction syndrome MONDO:8000032 Orphanet:233 Orphanet:377789 obsolete malformation syndrome -MONDO:0007477 3-M syndrome MONDO:0015329 Orphanet:2616 Orphanet:139021 obsolete malformation syndrome with short stature -MONDO:0007477 3-M syndrome MONDO:0019699 Orphanet:2616 Orphanet:93440 obsolete slender bone dysplasia -MONDO:0007477 3-M syndrome MONDO:0026187 Orphanet:2616 Orphanet:183570 obsolete genetic malformation syndrome with short stature -MONDO:0007477 3-M syndrome MONDO:0043008 Orphanet:2616 Orphanet:330206 obsolete genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability -MONDO:0007477 3-M syndrome MONDO:8000032 Orphanet:2616 Orphanet:377789 obsolete malformation syndrome -MONDO:0007478 autosomal dominant Kenny-Caffey syndrome MONDO:8000031 Orphanet:93325 Orphanet:557494 obsolete subtype of a disorder -MONDO:0007481 Leri-Weill dyschondrosteosis MONDO:0019697 Orphanet:240 Orphanet:93438 obsolete mesomelic and rhizo-mesomelic dysplasia -MONDO:0007481 Leri-Weill dyschondrosteosis MONDO:8000032 Orphanet:240 Orphanet:377789 obsolete malformation syndrome -MONDO:0007482 dyschondrosteosis-nephritis syndrome MONDO:0019697 Orphanet:1765 Orphanet:93438 obsolete mesomelic and rhizo-mesomelic dysplasia -MONDO:0007482 dyschondrosteosis-nephritis syndrome MONDO:0019721 Orphanet:1765 Orphanet:93547 obsolete syndromic renal or urinary tract malformation -MONDO:0007482 dyschondrosteosis-nephritis syndrome MONDO:8000032 Orphanet:1765 Orphanet:377789 obsolete malformation syndrome -MONDO:0007489 dysplasia epiphysealis hemimelica MONDO:0800089 Orphanet:1822 Orphanet:93450 obsolete primary bone dysplasia with disorganized development of skeletal components -MONDO:0007489 dysplasia epiphysealis hemimelica MONDO:8000032 Orphanet:1822 Orphanet:377789 obsolete malformation syndrome -MONDO:0007490 carpotarsal osteochondromatosis MONDO:0800089 Orphanet:2767 Orphanet:93450 obsolete primary bone dysplasia with disorganized development of skeletal components -MONDO:0007490 carpotarsal osteochondromatosis MONDO:8000032 Orphanet:2767 Orphanet:377789 obsolete malformation syndrome -MONDO:0007495 dystonia 5 MONDO:0035862 Orphanet:98808 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome -MONDO:0007496 dystonia 12 MONDO:0017660 Orphanet:71517 Orphanet:307052 obsolete rare genetic parkinsonian disorder -MONDO:0007496 dystonia 12 MONDO:0018329 Orphanet:71517 Orphanet:391711 obsolete persistent combined dystonia -MONDO:0007496 dystonia 12 MONDO:0019059 Orphanet:71517 Orphanet:68402 obsolete rare parkinsonian disorder -MONDO:0007504 thickened earlobes-conductive deafness syndrome MONDO:0019589 Orphanet:2405 Orphanet:90642 obsolete syndromic genetic hearing loss -MONDO:0007504 thickened earlobes-conductive deafness syndrome MONDO:8000032 Orphanet:2405 Orphanet:377789 obsolete malformation syndrome -MONDO:0007507 absence of fingerprints-congenital milia syndrome MONDO:0019274 Orphanet:1658 Orphanet:79359 obsolete other epidermal disorder -MONDO:0007507 absence of fingerprints-congenital milia syndrome MONDO:0019275 Orphanet:1658 Orphanet:79360 obsolete other genetic epidermal disease -MONDO:0007510 Clouston syndrome MONDO:0020094 Orphanet:189 Orphanet:98352 obsolete autosomal dominant disease with diffuse palmoplantar keratoderma as a major feature -MONDO:0007510 Clouston syndrome MONDO:0020225 Orphanet:189 Orphanet:98641 obsolete syndromic cataract -MONDO:0007511 ectodermal dysplasia, trichoodontoonychial type MONDO:0015336 Orphanet:1818 Orphanet:139042 obsolete malformation syndrome with odontal and/or periodontal component -MONDO:0007511 ectodermal dysplasia, trichoodontoonychial type MONDO:0026190 Orphanet:1818 Orphanet:183580 obsolete genetic malformation syndrome with odontal and/or periodontal component -MONDO:0007511 ectodermal dysplasia, trichoodontoonychial type MONDO:8000032 Orphanet:1818 Orphanet:377789 obsolete malformation syndrome -MONDO:0007519 Edinburgh malformation syndrome MONDO:0018731 Orphanet:1895 Orphanet:459787 obsolete lethal multiple congenital anomalies/dysmorphic syndrome -MONDO:0007519 Edinburgh malformation syndrome MONDO:8000032 Orphanet:1895 Orphanet:377789 obsolete malformation syndrome -MONDO:0007522 Ehlers-Danlos syndrome, classic type MONDO:0015216 Orphanet:287 Orphanet:108979 obsolete syndromic diaphragmatic or abdominal wall malformation -MONDO:0007522 Ehlers-Danlos syndrome, classic type MONDO:0015669 Orphanet:287 Orphanet:167762 obsolete rare disease with dentinogenesis imperfecta -MONDO:0007522 Ehlers-Danlos syndrome, classic type MONDO:0015880 Orphanet:287 Orphanet:180779 obsolete syndromic diaphragmatic or thoracic malformation -MONDO:0007526 Ehlers-Danlos syndrome, spondylodysplastic type MONDO:0017742 Orphanet:75496 Orphanet:309450 obsolete disorder of O-xylosylglycan synthesis -MONDO:0007526 Ehlers-Danlos syndrome, spondylodysplastic type MONDO:0018292 Orphanet:75496 Orphanet:371195 obsolete congenital disorder of glycosylation-related bone disorder -MONDO:0007526 Ehlers-Danlos syndrome, spondylodysplastic type MONDO:0035863 Orphanet:75496 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0007526 Ehlers-Danlos syndrome, spondylodysplastic type MONDO:0800095 Orphanet:75496 Orphanet:93459 obsolete syndrome with synostosis or other joint formation defect -MONDO:0007526 Ehlers-Danlos syndrome, spondylodysplastic type MONDO:8000031 Orphanet:75496 Orphanet:557494 obsolete subtype of a disorder -MONDO:0007527 Ehlers-Danlos syndrome, periodontitis type MONDO:0020014 Orphanet:75392 Orphanet:98027 obsolete rare disease with odontological manifestation -MONDO:0007529 elastosis perforans serpiginosa MONDO:0016436 Orphanet:79148 Orphanet:228224 obsolete acquired dermis elastic tissue disorder with increased elastic tissue -MONDO:0007534 Beckwith-Wiedemann syndrome MONDO:0015501 Orphanet:116 Orphanet:156237 obsolete syndrome or malformation associated with head and neck malformations -MONDO:0007534 Beckwith-Wiedemann syndrome MONDO:0015945 Orphanet:116 Orphanet:183422 obsolete polymalformative genetic syndrome with increased risk of developing cancer -MONDO:0007534 Beckwith-Wiedemann syndrome MONDO:0017891 Orphanet:116 Orphanet:319328 obsolete inherited renal cancer-predisposing syndrome -MONDO:0007534 Beckwith-Wiedemann syndrome MONDO:0019721 Orphanet:116 Orphanet:93547 obsolete syndromic renal or urinary tract malformation -MONDO:0007534 Beckwith-Wiedemann syndrome MONDO:0026989 Orphanet:116 Orphanet:217595 obsolete syndrome associated with hypertrophic cardiomyopathy -MONDO:0007534 Beckwith-Wiedemann syndrome MONDO:8000032 Orphanet:116 Orphanet:377789 obsolete malformation syndrome -MONDO:0007536 congenital lobar emphysema MONDO:0015221 Orphanet:1928 Orphanet:108993 obsolete non-syndromic respiratory or mediastinal malformation -MONDO:0007536 congenital lobar emphysema MONDO:0015930 Orphanet:1928 Orphanet:182111 obsolete respiratory malformation -MONDO:0007536 congenital lobar emphysema MONDO:0026203 Orphanet:1928 Orphanet:183622 obsolete genetic respiratory malformation -MONDO:0007536 congenital lobar emphysema MONDO:8000030 Orphanet:1928 Orphanet:377791 obsolete morphological anomaly -MONDO:0007537 lateral meningocele syndrome MONDO:0017085 Orphanet:2789 Orphanet:268843 obsolete malformation of the neurenteric canal, spinal cord and column -MONDO:0007537 lateral meningocele syndrome MONDO:8000032 Orphanet:2789 Orphanet:377789 obsolete malformation syndrome -MONDO:0007539 encephalopathy, recurrent, of childhood MONDO:8000032 Orphanet:2672 Orphanet:377789 obsolete malformation syndrome -MONDO:0007540 multiple endocrine neoplasia type 1 MONDO:0017820 Orphanet:652 Orphanet:314749 obsolete obsolete disease with Cushing syndrome as a major feature -MONDO:0007540 multiple endocrine neoplasia type 1 MONDO:0018538 Orphanet:652 Orphanet:425003 obsolete inherited digestive cancer-predisposing syndrome -MONDO:0007542 Camurati-Engelmann disease MONDO:0800084 Orphanet:1328 Orphanet:93444 obsolete primary bone dysplasia with increased bone density -MONDO:0007542 Camurati-Engelmann disease MONDO:8000032 Orphanet:1328 Orphanet:377789 obsolete malformation syndrome -MONDO:0007550 epidermolysis bullosa simplex 1A, generalized severe MONDO:0035684 Orphanet:79396 Orphanet:595346 obsolete epidermolysis bullosa simplex without extracutaneous involvement -MONDO:0007551 epidermolysis bullosa simplex 1C, localized MONDO:0035684 Orphanet:79400 Orphanet:595346 obsolete epidermolysis bullosa simplex without extracutaneous involvement -MONDO:0007552 pretibial dystrophic epidermolysis bullosa MONDO:8000031 Orphanet:79410 Orphanet:557494 obsolete subtype of a disorder -MONDO:0007554 epidermolysis bullosa simplex 1B, generalized intermediate MONDO:0035684 Orphanet:79399 Orphanet:595346 obsolete epidermolysis bullosa simplex without extracutaneous involvement -MONDO:0007555 pidermolysis bullosa simplex 5A, Ogna type MONDO:0035684 Orphanet:79401 Orphanet:595346 obsolete epidermolysis bullosa simplex without extracutaneous involvement -MONDO:0007556 epidermolysis bullosa simplex 2F, with mottled pigmentation MONDO:0035684 Orphanet:79397 Orphanet:595346 obsolete epidermolysis bullosa simplex without extracutaneous involvement -MONDO:0007562 multiple epiphyseal dysplasia, Beighton type MONDO:0020225 Orphanet:166011 Orphanet:98641 obsolete syndromic cataract -MONDO:0007564 pilomatrixoma MONDO:0019300 Orphanet:91414 Orphanet:79386 obsolete rare skin tumor or hamartoma -MONDO:0007565 familial cylindromatosis MONDO:8000031 Orphanet:211 Orphanet:557494 obsolete subtype of a disorder -MONDO:0007566 multiple self-healing squamous epithelioma MONDO:0015950 Orphanet:65748 Orphanet:183487 obsolete inherited skin tumor -MONDO:0007566 multiple self-healing squamous epithelioma MONDO:0019300 Orphanet:65748 Orphanet:79386 obsolete rare skin tumor or hamartoma -MONDO:0007570 erythema palmare hereditarium MONDO:0019299 Orphanet:231031 Orphanet:79385 obsolete unclassified genetic skin disorder -MONDO:0007571 primary erythermalgia MONDO:0015365 Orphanet:90026 Orphanet:140474 obsolete autosomal dominant hereditary sensory and autonomic neuropathy -MONDO:0007572 primary familial polycythemia due to EPO receptor mutation MONDO:0027929 Orphanet:90042 Orphanet:250165 obsolete genetic polycythemia -MONDO:0007574 spinocerebellar ataxia type 34 MONDO:0026150 Orphanet:1955 Orphanet:183438 obsolete genetic erythrokeratoderma -MONDO:0007584 exostoses-anetodermia-brachydactyly type E syndrome MONDO:0800089 Orphanet:1962 Orphanet:93450 obsolete primary bone dysplasia with disorganized development of skeletal components -MONDO:0007584 exostoses-anetodermia-brachydactyly type E syndrome MONDO:8000032 Orphanet:1962 Orphanet:377789 obsolete malformation syndrome -MONDO:0007587 external auditory canal atresia-vertical talus-hypertelorism syndrome MONDO:0015502 Orphanet:3023 Orphanet:156243 obsolete pinnae and external auditory canal anomaly -MONDO:0007587 external auditory canal atresia-vertical talus-hypertelorism syndrome MONDO:0018235 Orphanet:3023 Orphanet:364568 obsolete dysostosis with limb anomaly as a major feature -MONDO:0007587 external auditory canal atresia-vertical talus-hypertelorism syndrome MONDO:0018455 Orphanet:3023 Orphanet:404571 obsolete dysostosis of genetic origin with limb anomaly as a major feature -MONDO:0007587 external auditory canal atresia-vertical talus-hypertelorism syndrome MONDO:0043008 Orphanet:3023 Orphanet:330206 obsolete genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability -MONDO:0007587 external auditory canal atresia-vertical talus-hypertelorism syndrome MONDO:8000032 Orphanet:3023 Orphanet:377789 obsolete malformation syndrome -MONDO:0007588 extrasystoles-short stature-hyperpigmentation-microcephaly syndrome MONDO:0015329 Orphanet:1964 Orphanet:139021 obsolete malformation syndrome with short stature -MONDO:0007588 extrasystoles-short stature-hyperpigmentation-microcephaly syndrome MONDO:0026187 Orphanet:1964 Orphanet:183570 obsolete genetic malformation syndrome with short stature -MONDO:0007588 extrasystoles-short stature-hyperpigmentation-microcephaly syndrome MONDO:0035863 Orphanet:1964 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0007588 extrasystoles-short stature-hyperpigmentation-microcephaly syndrome MONDO:8000032 Orphanet:1964 Orphanet:377789 obsolete malformation syndrome -MONDO:0007590 hemifacial hypertrophy MONDO:8000032 Orphanet:141145 Orphanet:377789 obsolete malformation syndrome -MONDO:0007603 Felty syndrome MONDO:0015822 Orphanet:47612 Orphanet:178996 obsolete acquired neutropenia -MONDO:0007603 Felty syndrome MONDO:0015940 Orphanet:47612 Orphanet:182231 obsolete rare rheumatologic disease -MONDO:0007604 femoral-facial syndrome MONDO:0015335 Orphanet:1988 Orphanet:139039 obsolete Mendelian syndromes with cleft lip/palate -MONDO:0007604 femoral-facial syndrome MONDO:0017432 Orphanet:1988 Orphanet:294955 obsolete syndrome with limb reduction defects -MONDO:0007604 femoral-facial syndrome MONDO:0043008 Orphanet:1988 Orphanet:330206 obsolete genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability -MONDO:0007604 femoral-facial syndrome MONDO:8000032 Orphanet:1988 Orphanet:377789 obsolete malformation syndrome -MONDO:0007606 fibrodysplasia ossificans progressiva MONDO:0015949 Orphanet:337 Orphanet:183484 obsolete rare genetic subcutaneous tissue disorder -MONDO:0007606 fibrodysplasia ossificans progressiva MONDO:0018231 Orphanet:337 Orphanet:364531 obsolete primary bone dysplasia with progressive ossification of skin, skeletal muscle, fascia, tendons and ligaments -MONDO:0007606 fibrodysplasia ossificans progressiva MONDO:0035863 Orphanet:337 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0007606 fibrodysplasia ossificans progressiva MONDO:0800089 Orphanet:337 Orphanet:93450 obsolete primary bone dysplasia with disorganized development of skeletal components -MONDO:0007608 desmoid tumor MONDO:0019099 Orphanet:873 Orphanet:71209 obsolete rare soft tissue tumor -MONDO:0007610 gingival fibromatosis-hypertrichosis syndrome MONDO:0015336 Orphanet:2026 Orphanet:139042 obsolete malformation syndrome with odontal and/or periodontal component -MONDO:0007610 gingival fibromatosis-hypertrichosis syndrome MONDO:0026190 Orphanet:2026 Orphanet:183580 obsolete genetic malformation syndrome with odontal and/or periodontal component -MONDO:0007610 gingival fibromatosis-hypertrichosis syndrome MONDO:8000032 Orphanet:2026 Orphanet:377789 obsolete malformation syndrome -MONDO:0007612 gingival fibromatosis-progressive deafness syndrome MONDO:0015336 Orphanet:2027 Orphanet:139042 obsolete malformation syndrome with odontal and/or periodontal component -MONDO:0007612 gingival fibromatosis-progressive deafness syndrome MONDO:0019589 Orphanet:2027 Orphanet:90642 obsolete syndromic genetic hearing loss -MONDO:0007612 gingival fibromatosis-progressive deafness syndrome MONDO:0026190 Orphanet:2027 Orphanet:183580 obsolete genetic malformation syndrome with odontal and/or periodontal component -MONDO:0007612 gingival fibromatosis-progressive deafness syndrome MONDO:8000032 Orphanet:2027 Orphanet:377789 obsolete malformation syndrome -MONDO:0007614 congenital fibrosis of extraocular muscles MONDO:0020169 Orphanet:45358 Orphanet:98578 obsolete rare disorder with ptosis -MONDO:0007614 congenital fibrosis of extraocular muscles MONDO:0020253 Orphanet:45358 Orphanet:98683 obsolete syndrome with a symptomatic strabismus -MONDO:0007615 laurin-Sandrow syndrome MONDO:0017434 Orphanet:2378 Orphanet:294959 obsolete syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy -MONDO:0007615 laurin-Sandrow syndrome MONDO:8000032 Orphanet:2378 Orphanet:377789 obsolete malformation syndrome -MONDO:0007618 Eng-Strom syndrome MONDO:0015329 Orphanet:1937 Orphanet:139021 obsolete malformation syndrome with short stature -MONDO:0007618 Eng-Strom syndrome MONDO:0026187 Orphanet:1937 Orphanet:183570 obsolete genetic malformation syndrome with short stature -MONDO:0007618 Eng-Strom syndrome MONDO:8000032 Orphanet:1937 Orphanet:377789 obsolete malformation syndrome -MONDO:0007619 isolated congenital adermatoglyphia MONDO:0015331 Orphanet:289465 Orphanet:139027 obsolete malformation syndrome with skin/mucosae involvement -MONDO:0007620 fish eye disease MONDO:8000031 Orphanet:79292 Orphanet:557494 obsolete subtype of a disorder -MONDO:0007621 Floating-Harbor syndrome MONDO:0015329 Orphanet:2044 Orphanet:139021 obsolete malformation syndrome with short stature -MONDO:0007621 Floating-Harbor syndrome MONDO:0026187 Orphanet:2044 Orphanet:183570 obsolete genetic malformation syndrome with short stature -MONDO:0007621 Floating-Harbor syndrome MONDO:0035863 Orphanet:2044 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0007621 Floating-Harbor syndrome MONDO:8000032 Orphanet:2044 Orphanet:377789 obsolete malformation syndrome -MONDO:0007624 Flynn-Aird syndrome MONDO:0019117 Orphanet:2047 Orphanet:71859 obsolete genetic nervous system disorder -MONDO:0007624 Flynn-Aird syndrome MONDO:0020009 Orphanet:2047 Orphanet:98006 obsolete rare neurologic disease -MONDO:0007624 Flynn-Aird syndrome MONDO:0020225 Orphanet:2047 Orphanet:98641 obsolete syndromic cataract -MONDO:0007627 focal facial dermal dysplasia type I MONDO:8000031 Orphanet:79133 Orphanet:557494 obsolete subtype of a disorder -MONDO:0007635 Frasier syndrome MONDO:0015945 Orphanet:347 Orphanet:183422 obsolete polymalformative genetic syndrome with increased risk of developing cancer -MONDO:0007635 Frasier syndrome MONDO:0017978 Orphanet:347 Orphanet:325638 obsolete syndrome with disorder of sex development of gynecological interest -MONDO:0007635 Frasier syndrome MONDO:0020042 Orphanet:347 Orphanet:98087 obsolete syndrome with 46,XY disorder of sex development -MONDO:0007636 frontorhiny MONDO:0015412 Orphanet:391474 Orphanet:141234 obsolete median facial cleft -MONDO:0007636 frontorhiny MONDO:0033056 Orphanet:391474 Orphanet:414726 obsolete genetic facial cleft -MONDO:0007636 frontorhiny MONDO:8000032 Orphanet:391474 Orphanet:377789 obsolete malformation syndrome -MONDO:0007642 isolated agenesis of gallbladder MONDO:0015116 Orphanet:440987 Orphanet:101941 obsolete rare biliary tract disease -MONDO:0007642 isolated agenesis of gallbladder MONDO:8000030 Orphanet:440987 Orphanet:377791 obsolete morphological anomaly -MONDO:0007646 Gamstorp-Wohlfart syndrome MONDO:0019601 Orphanet:324442 Orphanet:91024 obsolete autosomal recessive axonal hereditary motor and sensory neuropathy -MONDO:0007648 hereditary diffuse gastric adenocarcinoma MONDO:0015617 Orphanet:26106 Orphanet:165658 obsolete hereditary gastro-esophageal disease -MONDO:0007648 hereditary diffuse gastric adenocarcinoma MONDO:0017128 Orphanet:26106 Orphanet:271835 obsolete inherited digestive tract tumor -MONDO:0007651 gastrocutaneous syndrome MONDO:0015111 Orphanet:2069 Orphanet:101936 obsolete gastroesophageal disease -MONDO:0007651 gastrocutaneous syndrome MONDO:0015617 Orphanet:2069 Orphanet:165658 obsolete hereditary gastro-esophageal disease -MONDO:0007652 gastric mucosal hypertrophy MONDO:0015111 Orphanet:2494 Orphanet:101936 obsolete gastroesophageal disease -MONDO:0007656 Gerstmann-Straussler-Scheinker syndrome MONDO:0017234 Orphanet:356 Orphanet:280400 obsolete inherited prion disease -MONDO:0007660 familial ossifying fibroma MONDO:0015959 Orphanet:435329 Orphanet:183527 obsolete inherited syndrome with bone tumors as a major feature -MONDO:0007666 glaucoma-sleep apnea syndrome MONDO:0019045 Orphanet:2085 Orphanet:68354 obsolete rare sleep disorder -MONDO:0007666 glaucoma-sleep apnea syndrome MONDO:0020222 Orphanet:2085 Orphanet:98638 obsolete rare disease with glaucoma as a major feature -MONDO:0007669 renal cysts and diabetes syndrome MONDO:0015887 Orphanet:93111 Orphanet:181376 obsolete rare diabetes mellitus type 2 -MONDO:0007669 renal cysts and diabetes syndrome MONDO:0019721 Orphanet:93111 Orphanet:93547 obsolete syndromic renal or urinary tract malformation -MONDO:0007669 renal cysts and diabetes syndrome MONDO:8000031 Orphanet:93111 Orphanet:557494 obsolete subtype of a disorder -MONDO:0007670 hypotrichosis-lymphedema-telangiectasia syndrome (grouping) MONDO:0035470 Orphanet:69735 Orphanet:568044 obsolete primary lymphedema with systemic or visceral involvement -MONDO:0007672 glomuvenous malformation MONDO:0015145 Orphanet:83454 Orphanet:102006 obsolete neurovascular malformation -MONDO:0007672 glomuvenous malformation MONDO:0016232 Orphanet:83454 Orphanet:211252 obsolete rare venous malformation -MONDO:0007672 glomuvenous malformation MONDO:0018730 Orphanet:83454 Orphanet:459548 obsolete rare genetic venous malformation -MONDO:0007672 glomuvenous malformation MONDO:0031949 Orphanet:83454 Orphanet:371436 obsolete genetic neurovascular malformation -MONDO:0007672 glomuvenous malformation MONDO:8000032 Orphanet:83454 Orphanet:377789 obsolete malformation syndrome -MONDO:0007679 GMS syndrome MONDO:0035863 Orphanet:2090 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0007679 GMS syndrome MONDO:8000032 Orphanet:2090 Orphanet:377789 obsolete malformation syndrome -MONDO:0007680 multinodular goiter-cystic kidney-polydactyly syndrome MONDO:0043008 Orphanet:2091 Orphanet:330206 obsolete genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability -MONDO:0007680 multinodular goiter-cystic kidney-polydactyly syndrome MONDO:8000032 Orphanet:2091 Orphanet:377789 obsolete malformation syndrome -MONDO:0007681 goiter, multinodular 1, with or without Sertoli-Leydig cell tumors MONDO:0015125 Orphanet:276399 Orphanet:101955 obsolete rare thyroid disease -MONDO:0007681 goiter, multinodular 1, with or without Sertoli-Leydig cell tumors MONDO:0015969 Orphanet:276399 Orphanet:183631 obsolete rare genetic thyroid disease -MONDO:0007683 Grant syndrome MONDO:0019704 Orphanet:2097 Orphanet:93446 obsolete primary bone dysplasia with decreased bone density -MONDO:0007683 Grant syndrome MONDO:8000032 Orphanet:2097 Orphanet:377789 obsolete malformation syndrome -MONDO:0007688 Myhre syndrome MONDO:0035863 Orphanet:2588 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0007688 Myhre syndrome MONDO:8000032 Orphanet:2588 Orphanet:377789 obsolete malformation syndrome -MONDO:0007690 aromatase excess syndrome MONDO:0033331 Orphanet:178345 Orphanet:435564 obsolete genetic precocious puberty in female -MONDO:0007693 hypertrichosis cubiti-short stature syndrome MONDO:8000032 Orphanet:2220 Orphanet:377789 obsolete malformation syndrome -MONDO:0007696 Emery-Nelson syndrome MONDO:0015226 Orphanet:1927 Orphanet:109009 obsolete syndrome with limb malformations as a major feature -MONDO:0007696 Emery-Nelson syndrome MONDO:8000032 Orphanet:1927 Orphanet:377789 obsolete malformation syndrome -MONDO:0007698 hand-foot-genital syndrome MONDO:0015846 Orphanet:2438 Orphanet:180148 obsolete syndromic uterovaginal malformation -MONDO:0007698 hand-foot-genital syndrome MONDO:0043008 Orphanet:2438 Orphanet:330206 obsolete genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability -MONDO:0007698 hand-foot-genital syndrome MONDO:0800094 Orphanet:2438 Orphanet:498454 obsolete dysostosis with brachydactyly with extraskeletal manifestations -MONDO:0007698 hand-foot-genital syndrome MONDO:8000032 Orphanet:2438 Orphanet:377789 obsolete malformation syndrome -MONDO:0007702 heart-hand syndrome type 3 MONDO:0015110 Orphanet:1342 Orphanet:101934 obsolete genetic cardiac rhythm disease -MONDO:0007702 heart-hand syndrome type 3 MONDO:0043008 Orphanet:1342 Orphanet:330206 obsolete genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability -MONDO:0007702 heart-hand syndrome type 3 MONDO:8000032 Orphanet:1342 Orphanet:377789 obsolete malformation syndrome -MONDO:0007708 Kasabach-Merritt syndrome MONDO:0016631 Orphanet:2330 Orphanet:248347 obsolete hemorrhagic disorder due to an acquired platelet anomaly -MONDO:0007710 facial hemiatrophy MONDO:0015144 Orphanet:1214 Orphanet:102005 obsolete brain inflammatory disease -MONDO:0007710 facial hemiatrophy MONDO:0015657 Orphanet:1214 Orphanet:166484 obsolete inflammatory and autoimmune disease with epilepsy -MONDO:0007711 Bencze syndrome MONDO:0015335 Orphanet:1241 Orphanet:139039 obsolete Mendelian syndromes with cleft lip/palate -MONDO:0007711 Bencze syndrome MONDO:0043008 Orphanet:1241 Orphanet:330206 obsolete genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability -MONDO:0007711 Bencze syndrome MONDO:8000032 Orphanet:1241 Orphanet:377789 obsolete malformation syndrome -MONDO:0007712 oculoauriculovertebral spectrum with radial defects MONDO:0015334 Orphanet:2549 Orphanet:139036 obsolete branchial arch or oral-acral syndrome -MONDO:0007712 oculoauriculovertebral spectrum with radial defects MONDO:0026189 Orphanet:2549 Orphanet:183576 obsolete genetic branchial arch or oral-acral syndrome -MONDO:0007712 oculoauriculovertebral spectrum with radial defects MONDO:0043008 Orphanet:2549 Orphanet:330206 obsolete genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability -MONDO:0007712 oculoauriculovertebral spectrum with radial defects MONDO:0800085 Orphanet:2549 Orphanet:93453 obsolete dysostosis with predominant craniofacial involvement -MONDO:0007712 oculoauriculovertebral spectrum with radial defects MONDO:8000032 Orphanet:2549 Orphanet:377789 obsolete malformation syndrome -MONDO:0007713 clonic hemifacial spasm MONDO:0016375 Orphanet:221083 Orphanet:221114 obsolete acquired peripheral movement disorder -MONDO:0007716 alpha thalassemia-intellectual disability syndrome type 1 MONDO:0016513 Orphanet:98791 Orphanet:232288 obsolete alpha-thalassemia-related diseases -MONDO:0007716 alpha thalassemia-intellectual disability syndrome type 1 MONDO:0035862 Orphanet:98791 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome -MONDO:0007716 alpha thalassemia-intellectual disability syndrome type 1 MONDO:8000032 Orphanet:98791 Orphanet:377789 obsolete malformation syndrome -MONDO:0007726 hip dysplasia, Beukes type MONDO:0019692 Orphanet:2114 Orphanet:93429 obsolete multiple epiphyseal dysplasia and pseudoachondroplasia -MONDO:0007727 autosomal dominant familial periodic fever MONDO:0017369 Orphanet:32960 Orphanet:290839 obsolete autoinflammatory syndrome with immune deficiency -MONDO:0007727 autosomal dominant familial periodic fever MONDO:0017370 Orphanet:32960 Orphanet:290842 obsolete autoinflammatory syndrome with skin involvement -MONDO:0007732 Holt-Oram syndrome MONDO:0015110 Orphanet:392 Orphanet:101934 obsolete genetic cardiac rhythm disease -MONDO:0007732 Holt-Oram syndrome MONDO:0015506 Orphanet:392 Orphanet:156532 obsolete rare syndrome with cardiac malformations -MONDO:0007732 Holt-Oram syndrome MONDO:0017432 Orphanet:392 Orphanet:294955 obsolete syndrome with limb reduction defects -MONDO:0007732 Holt-Oram syndrome MONDO:0043008 Orphanet:392 Orphanet:330206 obsolete genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability -MONDO:0007732 Holt-Oram syndrome MONDO:8000032 Orphanet:392 Orphanet:377789 obsolete malformation syndrome -MONDO:0007735 congenital Horner syndrome MONDO:0020169 Orphanet:91413 Orphanet:98578 obsolete rare disorder with ptosis -MONDO:0007737 humeroradial synostosis MONDO:0017429 Orphanet:3265 Orphanet:294949 obsolete joint formation defects -MONDO:0007737 humeroradial synostosis MONDO:8000030 Orphanet:3265 Orphanet:377791 obsolete morphological anomaly -MONDO:0007738 spondyloepiphyseal dysplasia with congenital joint dislocations MONDO:0017742 Orphanet:263463 Orphanet:309450 obsolete disorder of O-xylosylglycan synthesis -MONDO:0007738 spondyloepiphyseal dysplasia with congenital joint dislocations MONDO:0018292 Orphanet:263463 Orphanet:371195 obsolete congenital disorder of glycosylation-related bone disorder -MONDO:0007738 spondyloepiphyseal dysplasia with congenital joint dislocations MONDO:0800086 Orphanet:263463 Orphanet:93441 obsolete primary bone dysplasia with multiple joint dislocations -MONDO:0007739 Huntington disease MONDO:0017646 Orphanet:399 Orphanet:306719 obsolete neurodegenerative disease with chorea -MONDO:0007739 Huntington disease MONDO:0020136 Orphanet:399 Orphanet:98534 obsolete neurodegenerative disease with dementia -MONDO:0007739 Huntington disease MONDO:0021037 Orphanet:399 Orphanet:276058 obsolete genetic neurodegenerative disease with dementia -MONDO:0007740 Wagner disease MONDO:0034943 Orphanet:898 Orphanet:519304 obsolete isolated vitreoretinopathy -MONDO:0007747 isolated hyperchlorhidrosis MONDO:0019277 Orphanet:542657 Orphanet:79362 obsolete epidermal appendage anomaly -MONDO:0007756 hyperkeratosis lenticularis perstans MONDO:0019274 Orphanet:409 Orphanet:79359 obsolete other epidermal disorder -MONDO:0007756 hyperkeratosis lenticularis perstans MONDO:0019275 Orphanet:409 Orphanet:79360 obsolete other genetic epidermal disease -MONDO:0007757 hyperkeratosis-hyperpigmentation syndrome MONDO:0017679 Orphanet:1336 Orphanet:308031 obsolete obsolete autosomal dominant disease associated with punctate palmoplantar keratoderma as a major feature -MONDO:0007758 epidermolytic palmoplantar keratoderma MONDO:0020093 Orphanet:2199 Orphanet:98349 obsolete autosomal dominant isolated diffuse palmoplantar keratoderma -MONDO:0007762 hyperlipoproteinemia type V MONDO:8000031 Orphanet:530849 Orphanet:557494 obsolete subtype of a disorder -MONDO:0007764 autosomal dominant osteosclerosis, Worth type MONDO:0800084 Orphanet:2790 Orphanet:93444 obsolete primary bone dysplasia with increased bone density -MONDO:0007764 autosomal dominant osteosclerosis, Worth type MONDO:8000032 Orphanet:2790 Orphanet:377789 obsolete malformation syndrome -MONDO:0007765 hyperostosis cranialis interna MONDO:0019589 Orphanet:443098 Orphanet:90642 obsolete syndromic genetic hearing loss -MONDO:0007765 hyperostosis cranialis interna MONDO:0800084 Orphanet:443098 Orphanet:93444 obsolete primary bone dysplasia with increased bone density -MONDO:0007766 Morgagni-Stewart-Morel syndrome MONDO:0020018 Orphanet:77296 Orphanet:98038 obsolete cranial malformation -MONDO:0007766 Morgagni-Stewart-Morel syndrome MONDO:0026182 Orphanet:77296 Orphanet:183542 obsolete genetic cranial malformation -MONDO:0007766 Morgagni-Stewart-Morel syndrome MONDO:8000032 Orphanet:77296 Orphanet:377789 obsolete malformation syndrome -MONDO:0007768 hyperparathyroidism 2 with jaw tumors MONDO:0017891 Orphanet:99880 Orphanet:319328 obsolete inherited renal cancer-predisposing syndrome -MONDO:0007772 pseudohypoaldosteronism type 2A MONDO:8000031 Orphanet:88938 Orphanet:557494 obsolete subtype of a disorder -MONDO:0007787 Ambras type hypertrichosis universalis congenita MONDO:8000031 Orphanet:1023 Orphanet:557494 obsolete subtype of a disorder -MONDO:0007790 Charcot-Marie-Tooth disease type 3 MONDO:0015359 Orphanet:64748 Orphanet:140453 obsolete autosomal dominant hereditary demyelinating motor and sensory neuropathy -MONDO:0007790 Charcot-Marie-Tooth disease type 3 MONDO:0015361 Orphanet:64748 Orphanet:140459 obsolete autosomal recessive hereditary demyelinating motor and sensory neuropathy -MONDO:0007791 familial hypocalciuric hypercalcemia 1 MONDO:8000031 Orphanet:93372 Orphanet:557494 obsolete subtype of a disorder -MONDO:0007792 familial hypocalciuric hypercalcemia 2 MONDO:8000031 Orphanet:101049 Orphanet:557494 obsolete subtype of a disorder -MONDO:0007793 hypochondroplasia MONDO:0018232 Orphanet:429 Orphanet:364536 obsolete primary bone dysplasia with micromelia -MONDO:0007795 mullerian duct anomalies-limb anomalies syndrome MONDO:0015620 Orphanet:2491 Orphanet:165707 obsolete syndromic urogenital tract malformation -MONDO:0007795 mullerian duct anomalies-limb anomalies syndrome MONDO:0015846 Orphanet:2491 Orphanet:180148 obsolete syndromic uterovaginal malformation -MONDO:0007795 mullerian duct anomalies-limb anomalies syndrome MONDO:0043008 Orphanet:2491 Orphanet:330206 obsolete genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability -MONDO:0007795 mullerian duct anomalies-limb anomalies syndrome MONDO:8000032 Orphanet:2491 Orphanet:377789 obsolete malformation syndrome -MONDO:0007797 hypoparathyroidism-deafness-renal disease syndrome MONDO:0015895 Orphanet:2237 Orphanet:181402 obsolete syndrome with hypoparathyroidism -MONDO:0007797 hypoparathyroidism-deafness-renal disease syndrome MONDO:0019589 Orphanet:2237 Orphanet:90642 obsolete syndromic genetic hearing loss -MONDO:0007797 hypoparathyroidism-deafness-renal disease syndrome MONDO:0019721 Orphanet:2237 Orphanet:93547 obsolete syndromic renal or urinary tract malformation -MONDO:0007797 hypoparathyroidism-deafness-renal disease syndrome MONDO:8000032 Orphanet:2237 Orphanet:377789 obsolete malformation syndrome -MONDO:0007798 obsolete adult hypophosphatasia MONDO:0018570 Orphanet:247676 Orphanet:436 hypophosphatasia -MONDO:0007798 obsolete adult hypophosphatasia MONDO:0020014 Orphanet:247676 Orphanet:98027 obsolete rare disease with odontological manifestation -MONDO:0007798 obsolete adult hypophosphatasia MONDO:8000031 Orphanet:247676 Orphanet:557494 obsolete subtype of a disorder -MONDO:0007800 chromosome 18p deletion syndrome MONDO:0020226 Orphanet:1598 Orphanet:98642 obsolete chromosomal anomaly with cataract -MONDO:0007803 multiple system atrophy MONDO:0015918 Orphanet:102 Orphanet:182070 obsolete rare neurodegenerative disease -MONDO:0007803 multiple system atrophy MONDO:0017641 Orphanet:102 Orphanet:306695 obsolete miscellaneous movement disorder due to neurodegenerative disease -MONDO:0007804 Pallister-Hall syndrome MONDO:0015246 Orphanet:672 Orphanet:117573 obsolete syndromic anorectal malformation -MONDO:0007804 Pallister-Hall syndrome MONDO:0017434 Orphanet:672 Orphanet:294959 obsolete syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy -MONDO:0007804 Pallister-Hall syndrome MONDO:0019721 Orphanet:672 Orphanet:93547 obsolete syndromic renal or urinary tract malformation -MONDO:0007804 Pallister-Hall syndrome MONDO:0019827 Orphanet:672 Orphanet:95495 obsolete disease associated with non-acquired combined pituitary hormone deficiency -MONDO:0007804 Pallister-Hall syndrome MONDO:0022409 Orphanet:672 Orphanet:156162 obsolete nephropathy-associated ciliopathy -MONDO:0007804 Pallister-Hall syndrome MONDO:0035863 Orphanet:672 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0007804 Pallister-Hall syndrome MONDO:8000032 Orphanet:672 Orphanet:377789 obsolete malformation syndrome -MONDO:0007818 hyper-IgE recurrent infection syndrome 1, autosomal dominant MONDO:0019305 Orphanet:2314 Orphanet:79391 obsolete immune deficiency with skin involvement -MONDO:0007818 hyper-IgE recurrent infection syndrome 1, autosomal dominant MONDO:0026166 Orphanet:2314 Orphanet:183494 obsolete genetic immune deficiency with skin involvement -MONDO:0007820 fused mandibular incisors MONDO:0015603 Orphanet:2287 Orphanet:164001 obsolete rare odontal or periodontal disorder -MONDO:0007820 fused mandibular incisors MONDO:0018488 Orphanet:2287 Orphanet:420755 obsolete rare genetic odontal or periodontal disorder -MONDO:0007820 fused mandibular incisors MONDO:8000030 Orphanet:2287 Orphanet:377791 obsolete morphological anomaly -MONDO:0007836 IVIC syndrome MONDO:0017432 Orphanet:2307 Orphanet:294955 obsolete syndrome with limb reduction defects -MONDO:0007836 IVIC syndrome MONDO:0020253 Orphanet:2307 Orphanet:98683 obsolete syndrome with a symptomatic strabismus -MONDO:0007836 IVIC syndrome MONDO:8000032 Orphanet:2307 Orphanet:377789 obsolete malformation syndrome -MONDO:0007837 Johnson neuroectodermal syndrome MONDO:0035863 Orphanet:2316 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0007837 Johnson neuroectodermal syndrome MONDO:8000032 Orphanet:2316 Orphanet:377789 obsolete malformation syndrome -MONDO:0007838 Jacobsen syndrome MONDO:0020169 Orphanet:2308 Orphanet:98578 obsolete rare disorder with ptosis -MONDO:0007838 Jacobsen syndrome MONDO:8000032 Orphanet:2308 Orphanet:377789 obsolete malformation syndrome -MONDO:0007839 Aase-Smith syndrome MONDO:0015335 Orphanet:916 Orphanet:139039 obsolete Mendelian syndromes with cleft lip/palate -MONDO:0007839 Aase-Smith syndrome MONDO:0017121 Orphanet:916 Orphanet:269546 obsolete syndrome with a Dandy-Walker malformation as major feature -MONDO:0007839 Aase-Smith syndrome MONDO:0043008 Orphanet:916 Orphanet:330206 obsolete genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability -MONDO:0007839 Aase-Smith syndrome MONDO:8000032 Orphanet:916 Orphanet:377789 obsolete malformation syndrome -MONDO:0007841 coxopodopatellar syndrome MONDO:0019712 Orphanet:1509 Orphanet:93455 obsolete patellar dysostosis -MONDO:0007842 joint laxity, familial MONDO:0015331 Orphanet:2295 Orphanet:139027 obsolete malformation syndrome with skin/mucosae involvement -MONDO:0007842 joint laxity, familial MONDO:0015332 Orphanet:2295 Orphanet:139030 obsolete rare developmental defect with connective tissue involvement -MONDO:0007842 joint laxity, familial MONDO:0028795 Orphanet:2295 Orphanet:271870 obsolete rare genetic systemic or rheumatologic disease -MONDO:0007846 KBG syndrome MONDO:0015336 Orphanet:2332 Orphanet:139042 obsolete malformation syndrome with odontal and/or periodontal component -MONDO:0007846 KBG syndrome MONDO:0026190 Orphanet:2332 Orphanet:183580 obsolete genetic malformation syndrome with odontal and/or periodontal component -MONDO:0007846 KBG syndrome MONDO:0035863 Orphanet:2332 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0007846 KBG syndrome MONDO:8000032 Orphanet:2332 Orphanet:377789 obsolete malformation syndrome -MONDO:0007852 palmoplantar keratoderma-deafness syndrome MONDO:0019589 Orphanet:2202 Orphanet:90642 obsolete syndromic genetic hearing loss -MONDO:0007852 palmoplantar keratoderma-deafness syndrome MONDO:0020094 Orphanet:2202 Orphanet:98352 obsolete autosomal dominant disease with diffuse palmoplantar keratoderma as a major feature -MONDO:0007853 palmoplantar keratoderma-hereditary motor and sensory neuropathy syndrome MONDO:0015360 Orphanet:538574 Orphanet:140456 obsolete autosomal dominant hereditary axonal motor and sensory neuropathy -MONDO:0007853 palmoplantar keratoderma-hereditary motor and sensory neuropathy syndrome MONDO:0020094 Orphanet:538574 Orphanet:98352 obsolete autosomal dominant disease with diffuse palmoplantar keratoderma as a major feature -MONDO:0007854 keratolytic winter erythema MONDO:0019274 Orphanet:50943 Orphanet:79359 obsolete other epidermal disorder -MONDO:0007854 keratolytic winter erythema MONDO:0019275 Orphanet:50943 Orphanet:79360 obsolete other genetic epidermal disease -MONDO:0007856 palmoplantar keratoderma-esophageal carcinoma syndrome MONDO:0015111 Orphanet:2198 Orphanet:101936 obsolete gastroesophageal disease -MONDO:0007856 palmoplantar keratoderma-esophageal carcinoma syndrome MONDO:0015617 Orphanet:2198 Orphanet:165658 obsolete hereditary gastro-esophageal disease -MONDO:0007856 palmoplantar keratoderma-esophageal carcinoma syndrome MONDO:0020095 Orphanet:2198 Orphanet:98353 obsolete autosomal dominant disease associated with focal palmoplantar keratoderma as a major feature -MONDO:0007857 keratosis palmaris et plantaris-clinodactyly syndrome MONDO:0020094 Orphanet:86919 Orphanet:98352 obsolete autosomal dominant disease with diffuse palmoplantar keratoderma as a major feature -MONDO:0007860 focal palmoplantar and gingival keratoderma MONDO:0020095 Orphanet:2200 Orphanet:98353 obsolete autosomal dominant disease associated with focal palmoplantar keratoderma as a major feature -MONDO:0007862 Waardenburg syndrome type 3 MONDO:8000031 Orphanet:896 Orphanet:557494 obsolete subtype of a disorder -MONDO:0007863 Kleine-Levin syndrome MONDO:0019045 Orphanet:33543 Orphanet:68354 obsolete rare sleep disorder -MONDO:0007864 angioosteohypertrophic syndrome MONDO:0015948 Orphanet:2346 Orphanet:183478 obsolete rare genetic skin vascular disorder -MONDO:0007864 angioosteohypertrophic syndrome MONDO:0016235 Orphanet:2346 Orphanet:211277 obsolete complex vascular malformation with associated anomalies -MONDO:0007864 angioosteohypertrophic syndrome MONDO:0016524 Orphanet:2346 Orphanet:235832 obsolete congenital vascular bone syndrome -MONDO:0007864 angioosteohypertrophic syndrome MONDO:0020063 Orphanet:2346 Orphanet:98196 obsolete malformation syndrome with hamartosis -MONDO:0007864 angioosteohypertrophic syndrome MONDO:0020225 Orphanet:2346 Orphanet:98641 obsolete syndromic cataract -MONDO:0007864 angioosteohypertrophic syndrome MONDO:0033927 Orphanet:2346 Orphanet:459537 obsolete genetic complex vascular malformation with associated anomalies -MONDO:0007866 Bart-Pumphrey syndrome MONDO:0019589 Orphanet:2698 Orphanet:90642 obsolete syndromic genetic hearing loss -MONDO:0007866 Bart-Pumphrey syndrome MONDO:0020094 Orphanet:2698 Orphanet:98352 obsolete autosomal dominant disease with diffuse palmoplantar keratoderma as a major feature -MONDO:0007871 familial congenital nasolacrimal duct obstruction MONDO:0015503 Orphanet:451612 Orphanet:156246 obsolete nose and cavum anomaly -MONDO:0007871 familial congenital nasolacrimal duct obstruction MONDO:0020195 Orphanet:451612 Orphanet:98605 obsolete excretory apparatus of the lacrimal system anomaly -MONDO:0007871 familial congenital nasolacrimal duct obstruction MONDO:0033334 Orphanet:451612 Orphanet:435606 obsolete genetic nose and cavum anomaly -MONDO:0007871 familial congenital nasolacrimal duct obstruction MONDO:8000030 Orphanet:451612 Orphanet:377791 obsolete morphological anomaly -MONDO:0007872 LADD syndrome MONDO:0015336 Orphanet:2363 Orphanet:139042 obsolete malformation syndrome with odontal and/or periodontal component -MONDO:0007872 LADD syndrome MONDO:0015503 Orphanet:2363 Orphanet:156246 obsolete nose and cavum anomaly -MONDO:0007872 LADD syndrome MONDO:0017434 Orphanet:2363 Orphanet:294959 obsolete syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy -MONDO:0007872 LADD syndrome MONDO:0020197 Orphanet:2363 Orphanet:98609 obsolete EEC syndrome and related syndrome -MONDO:0007872 LADD syndrome MONDO:0026190 Orphanet:2363 Orphanet:183580 obsolete genetic malformation syndrome with odontal and/or periodontal component -MONDO:0007872 LADD syndrome MONDO:0033334 Orphanet:2363 Orphanet:435606 obsolete genetic nose and cavum anomaly -MONDO:0007872 LADD syndrome MONDO:0043008 Orphanet:2363 Orphanet:330206 obsolete genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability -MONDO:0007872 LADD syndrome MONDO:8000032 Orphanet:2363 Orphanet:377789 obsolete malformation syndrome -MONDO:0007874 trichorhinophalangeal syndrome type II MONDO:0035863 Orphanet:502 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0007874 trichorhinophalangeal syndrome type II MONDO:8000032 Orphanet:502 Orphanet:377789 obsolete malformation syndrome -MONDO:0007875 Larsen syndrome MONDO:0015332 Orphanet:503 Orphanet:139030 obsolete rare developmental defect with connective tissue involvement -MONDO:0007875 Larsen syndrome MONDO:0015335 Orphanet:503 Orphanet:139039 obsolete Mendelian syndromes with cleft lip/palate -MONDO:0007875 Larsen syndrome MONDO:0800086 Orphanet:503 Orphanet:93441 obsolete primary bone dysplasia with multiple joint dislocations -MONDO:0007875 Larsen syndrome MONDO:8000032 Orphanet:503 Orphanet:377789 obsolete malformation syndrome -MONDO:0007876 laryngeal abductor paralysis MONDO:0015504 Orphanet:2808 Orphanet:156249 obsolete larynx anomaly -MONDO:0007876 laryngeal abductor paralysis MONDO:0033335 Orphanet:2808 Orphanet:435609 obsolete genetic larynx anomaly -MONDO:0007876 laryngeal abductor paralysis MONDO:8000032 Orphanet:2808 Orphanet:377789 obsolete malformation syndrome -MONDO:0007878 congenital laryngomalacia MONDO:0015504 Orphanet:2373 Orphanet:156249 obsolete larynx anomaly -MONDO:0007878 congenital laryngomalacia MONDO:0033335 Orphanet:2373 Orphanet:435609 obsolete genetic larynx anomaly -MONDO:0007878 congenital laryngomalacia MONDO:8000032 Orphanet:2373 Orphanet:377789 obsolete malformation syndrome -MONDO:0007879 larynx atresia MONDO:0015504 Orphanet:1202 Orphanet:156249 obsolete larynx anomaly -MONDO:0007879 larynx atresia MONDO:0033335 Orphanet:1202 Orphanet:435609 obsolete genetic larynx anomaly -MONDO:0007879 larynx atresia MONDO:8000032 Orphanet:1202 Orphanet:377789 obsolete malformation syndrome -MONDO:0007880 congenital laryngeal web MONDO:0015504 Orphanet:2374 Orphanet:156249 obsolete larynx anomaly -MONDO:0007880 congenital laryngeal web MONDO:0033335 Orphanet:2374 Orphanet:435609 obsolete genetic larynx anomaly -MONDO:0007880 congenital laryngeal web MONDO:8000032 Orphanet:2374 Orphanet:377789 obsolete malformation syndrome -MONDO:0007888 hereditary leiomyomatosis and renal cell cancer MONDO:0015950 Orphanet:523 Orphanet:183487 obsolete inherited skin tumor -MONDO:0007888 hereditary leiomyomatosis and renal cell cancer MONDO:0017891 Orphanet:523 Orphanet:319328 obsolete inherited renal cancer-predisposing syndrome -MONDO:0007888 hereditary leiomyomatosis and renal cell cancer MONDO:0019300 Orphanet:523 Orphanet:79386 obsolete rare skin tumor or hamartoma -MONDO:0007888 hereditary leiomyomatosis and renal cell cancer MONDO:0035645 Orphanet:523 Orphanet:589746 obsolete inherited gynecological cancer-predisposing syndrome -MONDO:0007892 Lenz-Majewski hyperostotic dwarfism MONDO:0035863 Orphanet:2658 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0007892 Lenz-Majewski hyperostotic dwarfism MONDO:0800084 Orphanet:2658 Orphanet:93444 obsolete primary bone dysplasia with increased bone density -MONDO:0007892 Lenz-Majewski hyperostotic dwarfism MONDO:8000032 Orphanet:2658 Orphanet:377789 obsolete malformation syndrome -MONDO:0007893 Noonan syndrome with multiple lentigines MONDO:0015331 Orphanet:500 Orphanet:139027 obsolete malformation syndrome with skin/mucosae involvement -MONDO:0007893 Noonan syndrome with multiple lentigines MONDO:0015945 Orphanet:500 Orphanet:183422 obsolete polymalformative genetic syndrome with increased risk of developing cancer -MONDO:0007893 Noonan syndrome with multiple lentigines MONDO:0019589 Orphanet:500 Orphanet:90642 obsolete syndromic genetic hearing loss -MONDO:0007893 Noonan syndrome with multiple lentigines MONDO:0020063 Orphanet:500 Orphanet:98196 obsolete malformation syndrome with hamartosis -MONDO:0007893 Noonan syndrome with multiple lentigines MONDO:0026989 Orphanet:500 Orphanet:217595 obsolete syndrome associated with hypertrophic cardiomyopathy -MONDO:0007893 Noonan syndrome with multiple lentigines MONDO:0043008 Orphanet:500 Orphanet:330206 obsolete genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability -MONDO:0007893 Noonan syndrome with multiple lentigines MONDO:8000032 Orphanet:500 Orphanet:377789 obsolete malformation syndrome -MONDO:0007894 Leri pleonosteosis MONDO:0800095 Orphanet:2900 Orphanet:93459 obsolete syndrome with synostosis or other joint formation defect -MONDO:0007894 Leri pleonosteosis MONDO:8000032 Orphanet:2900 Orphanet:377789 obsolete malformation syndrome -MONDO:0007895 platyspondylic dysplasia, Torrance type MONDO:8000032 Orphanet:85166 Orphanet:377789 obsolete malformation syndrome -MONDO:0007904 median nodule of the upper lip MONDO:0043008 Orphanet:2699 Orphanet:330206 obsolete genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability -MONDO:0007904 median nodule of the upper lip MONDO:8000032 Orphanet:2699 Orphanet:377789 obsolete malformation syndrome -MONDO:0007906 familial partial lipodystrophy, Dunnigan type MONDO:0029812 Orphanet:2348 Orphanet:300763 obsolete laminopathy with lipodystrophy -MONDO:0007906 familial partial lipodystrophy, Dunnigan type MONDO:0031689 Orphanet:2348 Orphanet:363245 obsolete genetic progeroid syndrome -MONDO:0007908 multiple symmetric lipomatosis MONDO:0015949 Orphanet:2398 Orphanet:183484 obsolete rare genetic subcutaneous tissue disorder -MONDO:0007909 familial multiple lipomatosis MONDO:0015949 Orphanet:199276 Orphanet:183484 obsolete rare genetic subcutaneous tissue disorder -MONDO:0007915 systemic lupus erythematosus MONDO:0015939 Orphanet:536 Orphanet:182228 obsolete systemic autoimmune disease -MONDO:0007916 primary intestinal lymphangiectasia MONDO:0015616 Orphanet:90362 Orphanet:165655 obsolete rare genetic intestinal disease -MONDO:0007917 lymphedema-cerebral arteriovenous anomaly syndrome MONDO:0016235 Orphanet:86914 Orphanet:211277 obsolete complex vascular malformation with associated anomalies -MONDO:0007917 lymphedema-cerebral arteriovenous anomaly syndrome MONDO:8000032 Orphanet:86914 Orphanet:377789 obsolete malformation syndrome -MONDO:0007918 microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability MONDO:0017119 Orphanet:2526 Orphanet:269528 obsolete syndrome with microcephaly as major feature -MONDO:0007918 microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability MONDO:0034953 Orphanet:2526 Orphanet:519325 obsolete syndromic inherited retinal disorder -MONDO:0007918 microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability MONDO:0035862 Orphanet:2526 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome -MONDO:0007918 microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability MONDO:8000032 Orphanet:2526 Orphanet:377789 obsolete malformation syndrome -MONDO:0007921 yellow nail syndrome MONDO:0017017 Orphanet:662 Orphanet:264683 obsolete primary interstitial lung disease specific to childhood due to alveolar vascular disorder -MONDO:0007921 yellow nail syndrome MONDO:0019285 Orphanet:662 Orphanet:79370 obsolete syndromic nail anomaly -MONDO:0007921 yellow nail syndrome MONDO:0035470 Orphanet:662 Orphanet:568044 obsolete primary lymphedema with systemic or visceral involvement -MONDO:0007922 lymphedema-distichiasis syndrome MONDO:0020184 Orphanet:33001 Orphanet:98594 obsolete rare eyebrow/eyelashes anomaly -MONDO:0007922 lymphedema-distichiasis syndrome MONDO:0020225 Orphanet:33001 Orphanet:98641 obsolete syndromic cataract -MONDO:0007922 lymphedema-distichiasis syndrome MONDO:8000032 Orphanet:33001 Orphanet:377789 obsolete malformation syndrome -MONDO:0007924 Bannayan-Riley-Ruvalcaba syndrome MONDO:0016235 Orphanet:109 Orphanet:211277 obsolete complex vascular malformation with associated anomalies -MONDO:0007924 Bannayan-Riley-Ruvalcaba syndrome MONDO:0018188 Orphanet:109 Orphanet:363314 obsolete hereditary intestinal polyposis -MONDO:0007924 Bannayan-Riley-Ruvalcaba syndrome MONDO:0033927 Orphanet:109 Orphanet:459537 obsolete genetic complex vascular malformation with associated anomalies -MONDO:0007924 Bannayan-Riley-Ruvalcaba syndrome MONDO:0035863 Orphanet:109 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0007924 Bannayan-Riley-Ruvalcaba syndrome MONDO:8000032 Orphanet:109 Orphanet:377789 obsolete malformation syndrome -MONDO:0007927 congenital macroglossia MONDO:8000032 Orphanet:2430 Orphanet:377789 obsolete malformation syndrome -MONDO:0007937 renal hypomagnesemia 2 MONDO:0019744 Orphanet:34528 Orphanet:93603 obsolete rare renal tubular disease -MONDO:0007943 Nager acrofacial dysostosis MONDO:0015334 Orphanet:245 Orphanet:139036 obsolete branchial arch or oral-acral syndrome -MONDO:0007943 Nager acrofacial dysostosis MONDO:0020157 Orphanet:245 Orphanet:98566 obsolete syndromic palpebral coloboma -MONDO:0007943 Nager acrofacial dysostosis MONDO:0020167 Orphanet:245 Orphanet:98576 obsolete malposition of external canthus -MONDO:0007943 Nager acrofacial dysostosis MONDO:0024148 Orphanet:245 Orphanet:138050 obsolete Pierre Robin syndrome associated with branchial archs anomalies -MONDO:0007943 Nager acrofacial dysostosis MONDO:0026189 Orphanet:245 Orphanet:183576 obsolete genetic branchial arch or oral-acral syndrome -MONDO:0007943 Nager acrofacial dysostosis MONDO:0043008 Orphanet:245 Orphanet:330206 obsolete genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability -MONDO:0007943 Nager acrofacial dysostosis MONDO:8000032 Orphanet:245 Orphanet:377789 obsolete malformation syndrome -MONDO:0007946 jaw-winking syndrome MONDO:0020169 Orphanet:91412 Orphanet:98578 obsolete rare disorder with ptosis -MONDO:0007947 Marfan syndrome MONDO:0015332 Orphanet:558 Orphanet:139030 obsolete rare developmental defect with connective tissue involvement -MONDO:0007947 Marfan syndrome MONDO:0017311 Orphanet:558 Orphanet:285014 obsolete rare disease with thoracic aortic aneurysm and aortic dissection -MONDO:0007947 Marfan syndrome MONDO:0020211 Orphanet:558 Orphanet:98623 obsolete syndromic keratoconus -MONDO:0007947 Marfan syndrome MONDO:0034937 Orphanet:558 Orphanet:519292 obsolete syndromic ectopia lentis -MONDO:0007947 Marfan syndrome MONDO:0800091 Orphanet:558 Orphanet:498448 obsolete overgrowth or tall stature syndrome with skeletal involvement -MONDO:0007947 Marfan syndrome MONDO:8000031 Orphanet:284963 Orphanet:557494 obsolete subtype of a disorder -MONDO:0007949 Marshall syndrome MONDO:0020222 Orphanet:560 Orphanet:98638 obsolete rare disease with glaucoma as a major feature -MONDO:0007949 Marshall syndrome MONDO:0020225 Orphanet:560 Orphanet:98641 obsolete syndromic cataract -MONDO:0007949 Marshall syndrome MONDO:0034937 Orphanet:560 Orphanet:519292 obsolete syndromic ectopia lentis -MONDO:0007949 Marshall syndrome MONDO:0043008 Orphanet:560 Orphanet:330206 obsolete genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability -MONDO:0007949 Marshall syndrome MONDO:0800087 Orphanet:560 Orphanet:93422 obsolete type 11 collagen-related bone disorder -MONDO:0007949 Marshall syndrome MONDO:8000032 Orphanet:560 Orphanet:377789 obsolete malformation syndrome -MONDO:0007950 mastocytosis MONDO:0019044 Orphanet:98292 Orphanet:68347 obsolete tumor of hematopoietic and lymphoid tissues -MONDO:0007953 Binder syndrome MONDO:0015501 Orphanet:1248 Orphanet:156237 obsolete syndrome or malformation associated with head and neck malformations -MONDO:0007953 Binder syndrome MONDO:0019589 Orphanet:1248 Orphanet:90642 obsolete syndromic genetic hearing loss -MONDO:0007953 Binder syndrome MONDO:0043008 Orphanet:1248 Orphanet:330206 obsolete genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability -MONDO:0007953 Binder syndrome MONDO:8000032 Orphanet:1248 Orphanet:377789 obsolete malformation syndrome -MONDO:0007956 Pai syndrome MONDO:0015335 Orphanet:1993 Orphanet:139039 obsolete Mendelian syndromes with cleft lip/palate -MONDO:0007956 Pai syndrome MONDO:8000032 Orphanet:1993 Orphanet:377789 obsolete malformation syndrome -MONDO:0007958 familial medullary thyroid carcinoma MONDO:0018538 Orphanet:99361 Orphanet:425003 obsolete inherited digestive cancer-predisposing syndrome -MONDO:0007959 medulloblastoma MONDO:0016708 Orphanet:616 Orphanet:251852 obsolete embryonal tumor of neuroepithelial tissue -MONDO:0007967 melanoma and neural system tumor syndrome MONDO:0016756 Orphanet:252206 Orphanet:252190 obsolete inherited nervous system cancer-predisposing syndrome -MONDO:0007969 Melkersson-Rosenthal syndrome MONDO:0019298 Orphanet:2483 Orphanet:79384 obsolete rare urticaria -MONDO:0007969 Melkersson-Rosenthal syndrome MONDO:8000032 Orphanet:2483 Orphanet:377789 obsolete malformation syndrome -MONDO:0007970 melorheostosis MONDO:8000032 Orphanet:2485 Orphanet:377789 obsolete malformation syndrome -MONDO:0007971 delayed membranous cranial ossification MONDO:0019709 Orphanet:3034 Orphanet:93451 obsolete cleidocranial dysplasia and isolated cranial ossification defect -MONDO:0007971 delayed membranous cranial ossification MONDO:0020018 Orphanet:3034 Orphanet:98038 obsolete cranial malformation -MONDO:0007971 delayed membranous cranial ossification MONDO:0026182 Orphanet:3034 Orphanet:183542 obsolete genetic cranial malformation -MONDO:0007971 delayed membranous cranial ossification MONDO:8000032 Orphanet:3034 Orphanet:377789 obsolete malformation syndrome -MONDO:0007977 mesomelic dysplasia, Kantaputra type MONDO:0019697 Orphanet:1836 Orphanet:93438 obsolete mesomelic and rhizo-mesomelic dysplasia -MONDO:0007977 mesomelic dysplasia, Kantaputra type MONDO:8000032 Orphanet:1836 Orphanet:377789 obsolete malformation syndrome -MONDO:0007979 metachondromatosis MONDO:0800089 Orphanet:2499 Orphanet:93450 obsolete primary bone dysplasia with disorganized development of skeletal components -MONDO:0007979 metachondromatosis MONDO:8000032 Orphanet:2499 Orphanet:377789 obsolete malformation syndrome -MONDO:0007982 metaphyseal chondrodysplasia, Jansen type MONDO:0019693 Orphanet:33067 Orphanet:93430 obsolete multiple metaphyseal dysplasia -MONDO:0007983 Schmid metaphyseal chondrodysplasia MONDO:0019693 Orphanet:174 Orphanet:93430 obsolete multiple metaphyseal dysplasia -MONDO:0007984 metaphyseal dysplasia-maxillary hypoplasia-brachydacty syndrome MONDO:0019693 Orphanet:2504 Orphanet:93430 obsolete multiple metaphyseal dysplasia -MONDO:0007984 metaphyseal dysplasia-maxillary hypoplasia-brachydacty syndrome MONDO:8000032 Orphanet:2504 Orphanet:377789 obsolete malformation syndrome -MONDO:0007987 Kniest dysplasia MONDO:0024145 Orphanet:485 Orphanet:138041 obsolete Pierre Robin syndrome associated with collagen disease -MONDO:0007988 autosomal dominant primary microcephaly MONDO:0035863 Orphanet:2514 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0007988 autosomal dominant primary microcephaly MONDO:8000031 Orphanet:2514 Orphanet:557494 obsolete subtype of a disorder -MONDO:0007989 congenital microcoria MONDO:8000032 Orphanet:566 Orphanet:377789 obsolete malformation syndrome -MONDO:0007990 multiple benign circumferential skin creases on limbs MONDO:0019299 Orphanet:2505 Orphanet:79385 obsolete unclassified genetic skin disorder -MONDO:0007990 multiple benign circumferential skin creases on limbs MONDO:0035862 Orphanet:2505 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome -MONDO:0007991 microcephaly-deafness-intellectual disability syndrome MONDO:0019589 Orphanet:2533 Orphanet:90642 obsolete syndromic genetic hearing loss -MONDO:0007991 microcephaly-deafness-intellectual disability syndrome MONDO:0035863 Orphanet:2533 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0007991 microcephaly-deafness-intellectual disability syndrome MONDO:8000032 Orphanet:2533 Orphanet:377789 obsolete malformation syndrome -MONDO:0007992 microcornea-glaucoma-absent frontal sinuses syndrome MONDO:0020222 Orphanet:2536 Orphanet:98638 obsolete rare disease with glaucoma as a major feature -MONDO:0007992 microcornea-glaucoma-absent frontal sinuses syndrome MONDO:8000032 Orphanet:2536 Orphanet:377789 obsolete malformation syndrome -MONDO:0007993 microgastria-limb reduction defect syndrome MONDO:0015210 Orphanet:2538 Orphanet:108965 obsolete syndromic gastroduodenal malformation -MONDO:0007993 microgastria-limb reduction defect syndrome MONDO:8000032 Orphanet:2538 Orphanet:377789 obsolete malformation syndrome -MONDO:0007998 microspherophakia-metaphyseal dysplasia syndrome MONDO:0020225 Orphanet:2551 Orphanet:98641 obsolete syndromic cataract -MONDO:0007998 microspherophakia-metaphyseal dysplasia syndrome MONDO:0034937 Orphanet:2551 Orphanet:519292 obsolete syndromic ectopia lentis -MONDO:0007998 microspherophakia-metaphyseal dysplasia syndrome MONDO:8000032 Orphanet:2551 Orphanet:377789 obsolete malformation syndrome -MONDO:0008003 autosomal dominant progressive external ophthalmoplegia MONDO:0016797 Orphanet:254892 Orphanet:254807 obsolete multiple mitochondrial DNA deletion syndrome -MONDO:0008003 autosomal dominant progressive external ophthalmoplegia MONDO:0019058 Orphanet:254892 Orphanet:68385 obsolete neurometabolic disease -MONDO:0008004 familial mitral valve prolapse MONDO:0017131 Orphanet:741 Orphanet:271853 obsolete hereditary cardiac anomaly -MONDO:0008004 familial mitral valve prolapse MONDO:8000030 Orphanet:741 Orphanet:377791 obsolete morphological anomaly -MONDO:0008005 cardiospondylocarpofacial syndrome MONDO:0019589 Orphanet:3238 Orphanet:90642 obsolete syndromic genetic hearing loss -MONDO:0008005 cardiospondylocarpofacial syndrome MONDO:8000032 Orphanet:3238 Orphanet:377789 obsolete malformation syndrome -MONDO:0008006 Mobius syndrome MONDO:0015334 Orphanet:570 Orphanet:139036 obsolete branchial arch or oral-acral syndrome -MONDO:0008006 Mobius syndrome MONDO:0015499 Orphanet:570 Orphanet:156224 obsolete paralytic facial malformation -MONDO:0008006 Mobius syndrome MONDO:0020132 Orphanet:570 Orphanet:98518 obsolete cranial nerve and nuclear aplasia -MONDO:0008006 Mobius syndrome MONDO:0020253 Orphanet:570 Orphanet:98683 obsolete syndrome with a symptomatic strabismus -MONDO:0008006 Mobius syndrome MONDO:0026189 Orphanet:570 Orphanet:183576 obsolete genetic branchial arch or oral-acral syndrome -MONDO:0008006 Mobius syndrome MONDO:0035863 Orphanet:570 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0008007 tooth ankylosis MONDO:0015603 Orphanet:1077 Orphanet:164001 obsolete rare odontal or periodontal disorder -MONDO:0008007 tooth ankylosis MONDO:0018488 Orphanet:1077 Orphanet:420755 obsolete rare genetic odontal or periodontal disorder -MONDO:0008007 tooth ankylosis MONDO:8000032 Orphanet:1077 Orphanet:377789 obsolete malformation syndrome -MONDO:0008008 MOMO syndrome MONDO:0016565 Orphanet:2563 Orphanet:240371 obsolete syndromic genetic obesity -MONDO:0008008 MOMO syndrome MONDO:8000032 Orphanet:2563 Orphanet:377789 obsolete malformation syndrome -MONDO:0008009 monilethrix MONDO:0019281 Orphanet:573 Orphanet:79366 obsolete isolated genetic hair shaft abnormality -MONDO:0008013 chromosome 9p deletion syndrome MONDO:0016891 Orphanet:261112 Orphanet:261929 obsolete partial deletion of the short arm of chromosome 9 -MONDO:0008013 chromosome 9p deletion syndrome MONDO:8000032 Orphanet:261112 Orphanet:377789 obsolete malformation syndrome -MONDO:0008016 trismus-pseudocamptodactyly syndrome MONDO:8000032 Orphanet:3377 Orphanet:377789 obsolete malformation syndrome -MONDO:0008017 hereditary mucoepithelial dysplasia MONDO:0019305 Orphanet:1839 Orphanet:79391 obsolete immune deficiency with skin involvement -MONDO:0008017 hereditary mucoepithelial dysplasia MONDO:0020225 Orphanet:1839 Orphanet:98641 obsolete syndromic cataract -MONDO:0008017 hereditary mucoepithelial dysplasia MONDO:0026166 Orphanet:1839 Orphanet:183494 obsolete genetic immune deficiency with skin involvement -MONDO:0008017 hereditary mucoepithelial dysplasia MONDO:8000032 Orphanet:1839 Orphanet:377789 obsolete malformation syndrome -MONDO:0008018 Muir-Torre syndrome MONDO:0015950 Orphanet:587 Orphanet:183487 obsolete inherited skin tumor -MONDO:0008018 Muir-Torre syndrome MONDO:0019300 Orphanet:587 Orphanet:79386 obsolete rare skin tumor or hamartoma -MONDO:0008019 mullerian aplasia and hyperandrogenism MONDO:0017965 Orphanet:247768 Orphanet:325109 obsolete syndrome with 46,XX disorder of sex development -MONDO:0008019 mullerian aplasia and hyperandrogenism MONDO:0017978 Orphanet:247768 Orphanet:325638 obsolete syndrome with disorder of sex development of gynecological interest -MONDO:0008019 mullerian aplasia and hyperandrogenism MONDO:8000032 Orphanet:247768 Orphanet:377789 obsolete malformation syndrome -MONDO:0008023 muscular atrophy-ataxia-retinitis pigmentosa-diabetes mellitus syndrome MONDO:0020240 Orphanet:2579 Orphanet:98661 obsolete syndromic retinitis pigmentosa -MONDO:0008026 autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures MONDO:8000031 Orphanet:209341 Orphanet:557494 obsolete subtype of a disorder -MONDO:0008038 ataxia-pancytopenia syndrome MONDO:0015141 Orphanet:2585 Orphanet:102000 obsolete disorder of medulla oblongata -MONDO:0008038 ataxia-pancytopenia syndrome MONDO:0026173 Orphanet:2585 Orphanet:183515 obsolete rare genetic medullar disease -MONDO:0008038 ataxia-pancytopenia syndrome MONDO:8000032 Orphanet:2585 Orphanet:377789 obsolete malformation syndrome -MONDO:0008039 tropical spastic paraparesis MONDO:0015576 Orphanet:289326 Orphanet:163585 obsolete rare viral disease -MONDO:0008043 myoclonus-cerebellar ataxia-deafness syndrome MONDO:0019589 Orphanet:2589 Orphanet:90642 obsolete syndromic genetic hearing loss -MONDO:0008043 myoclonus-cerebellar ataxia-deafness syndrome MONDO:8000032 Orphanet:2589 Orphanet:377789 obsolete malformation syndrome -MONDO:0008046 autosomal dominant myoglobinuria MONDO:0016117 Orphanet:99846 Orphanet:206953 obsolete muscular lipidosis -MONDO:0008046 autosomal dominant myoglobinuria MONDO:0019602 Orphanet:99846 Orphanet:91088 obsolete other inborn metabolic disease -MONDO:0008054 juvenile dermatomyositis MONDO:0017021 Orphanet:93672 Orphanet:264704 obsolete secondary interstitial lung disease specific to childhood associated with a connective tissue disease -MONDO:0008054 juvenile dermatomyositis MONDO:0017368 Orphanet:93672 Orphanet:290836 obsolete systemic disease with skin involvement -MONDO:0008056 myotonic dystrophy type 1 MONDO:0020016 Orphanet:273 Orphanet:98033 obsolete rare neurologic disease with psychiatric involvement -MONDO:0008056 myotonic dystrophy type 1 MONDO:0020169 Orphanet:273 Orphanet:98578 obsolete rare disorder with ptosis -MONDO:0008056 myotonic dystrophy type 1 MONDO:0020232 Orphanet:273 Orphanet:98648 obsolete musculoskeletal disease with cataract -MONDO:0008056 myotonic dystrophy type 1 MONDO:0026989 Orphanet:273 Orphanet:217595 obsolete syndrome associated with hypertrophic cardiomyopathy -MONDO:0008059 Naegeli-Franceschetti-Jadassohn syndrome MONDO:0020094 Orphanet:69087 Orphanet:98352 obsolete autosomal dominant disease with diffuse palmoplantar keratoderma as a major feature -MONDO:0008061 nail-patella syndrome MONDO:0019285 Orphanet:2614 Orphanet:79370 obsolete syndromic nail anomaly -MONDO:0008061 nail-patella syndrome MONDO:0019712 Orphanet:2614 Orphanet:93455 obsolete patellar dysostosis -MONDO:0008061 nail-patella syndrome MONDO:0020222 Orphanet:2614 Orphanet:98638 obsolete rare disease with glaucoma as a major feature -MONDO:0008061 nail-patella syndrome MONDO:8000032 Orphanet:2614 Orphanet:377789 obsolete malformation syndrome -MONDO:0008071 autosomal dominant progressive nephropathy with hypertension MONDO:0015512 Orphanet:88659 Orphanet:156629 obsolete genetic hypertension -MONDO:0008073 familial juvenile hyperuricemic nephropathy type 1 MONDO:0022409 Orphanet:88950 Orphanet:156162 obsolete nephropathy-associated ciliopathy -MONDO:0008073 familial juvenile hyperuricemic nephropathy type 1 MONDO:8000031 Orphanet:88950 Orphanet:557494 obsolete subtype of a disorder -MONDO:0008075 schwannomatosis MONDO:0020063 Orphanet:93921 Orphanet:98196 obsolete malformation syndrome with hamartosis -MONDO:0008082 multiple endocrine neoplasia type 2B MONDO:8000031 Orphanet:247709 Orphanet:557494 obsolete subtype of a disorder -MONDO:0008083 ceroid lipofuscinosis, neuronal, 4 (Kufs type) MONDO:8000031 Orphanet:228343 Orphanet:557494 obsolete subtype of a disorder -MONDO:0008087 hereditary neuropathy with liability to pressure palsies MONDO:0015359 Orphanet:640 Orphanet:140453 obsolete autosomal dominant hereditary demyelinating motor and sensory neuropathy -MONDO:0008087 hereditary neuropathy with liability to pressure palsies MONDO:8000032 Orphanet:640 Orphanet:377789 obsolete malformation syndrome -MONDO:0008092 hereditary neutrophilia MONDO:0015984 Orphanet:279943 Orphanet:183770 obsolete rare genetic immune disease -MONDO:0008092 hereditary neutrophilia MONDO:0020008 Orphanet:279943 Orphanet:98004 obsolete rare immune disease -MONDO:0008094 familial multiple nevi flammei MONDO:0015948 Orphanet:624 Orphanet:183478 obsolete rare genetic skin vascular disorder -MONDO:0008094 familial multiple nevi flammei MONDO:0018728 Orphanet:624 Orphanet:459526 obsolete rare genetic capillary malformation -MONDO:0008094 familial multiple nevi flammei MONDO:8000030 Orphanet:624 Orphanet:377791 obsolete morphological anomaly -MONDO:0008097 linear nevus sebaceous syndrome MONDO:0017414 Orphanet:2612 Orphanet:294057 obsolete rare nevus -MONDO:0008097 linear nevus sebaceous syndrome MONDO:0020063 Orphanet:2612 Orphanet:98196 obsolete malformation syndrome with hamartosis -MONDO:0008098 mesomelic dwarfism, Nievergelt type MONDO:0019697 Orphanet:2633 Orphanet:93438 obsolete mesomelic and rhizo-mesomelic dysplasia -MONDO:0008098 mesomelic dwarfism, Nievergelt type MONDO:8000032 Orphanet:2633 Orphanet:377789 obsolete malformation syndrome -MONDO:0008101 familial supernumerary nipples MONDO:0015852 Orphanet:2456 Orphanet:180170 obsolete excess breast volume or number -MONDO:0008101 familial supernumerary nipples MONDO:8000030 Orphanet:2456 Orphanet:377791 obsolete morphological anomaly -MONDO:0008108 oculocerebrocutaneous syndrome MONDO:0017120 Orphanet:1647 Orphanet:269531 obsolete other syndrome with a central nervous system malformation as major feature -MONDO:0008108 oculocerebrocutaneous syndrome MONDO:8000032 Orphanet:1647 Orphanet:377789 obsolete malformation syndrome -MONDO:0008111 oculodentodigital dysplasia MONDO:0015336 Orphanet:2710 Orphanet:139042 obsolete malformation syndrome with odontal and/or periodontal component -MONDO:0008111 oculodentodigital dysplasia MONDO:0020225 Orphanet:2710 Orphanet:98641 obsolete syndromic cataract -MONDO:0008111 oculodentodigital dysplasia MONDO:0026190 Orphanet:2710 Orphanet:183580 obsolete genetic malformation syndrome with odontal and/or periodontal component -MONDO:0008111 oculodentodigital dysplasia MONDO:0035471 Orphanet:2710 Orphanet:568047 obsolete disorder with multisystemic involvement and primary lymphedema -MONDO:0008111 oculodentodigital dysplasia MONDO:0035863 Orphanet:2710 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0008111 oculodentodigital dysplasia MONDO:0800084 Orphanet:2710 Orphanet:93444 obsolete primary bone dysplasia with increased bone density -MONDO:0008111 oculodentodigital dysplasia MONDO:8000032 Orphanet:2710 Orphanet:377789 obsolete malformation syndrome -MONDO:0008113 Schilbach-Rott syndrome MONDO:0015620 Orphanet:2353 Orphanet:165707 obsolete syndromic urogenital tract malformation -MONDO:0008113 Schilbach-Rott syndrome MONDO:0043008 Orphanet:2353 Orphanet:330206 obsolete genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability -MONDO:0008113 Schilbach-Rott syndrome MONDO:8000032 Orphanet:2353 Orphanet:377789 obsolete malformation syndrome -MONDO:0008115 Feingold syndrome type 1 MONDO:8000031 Orphanet:391641 Orphanet:557494 obsolete subtype of a disorder -MONDO:0008116 oculopharyngeal muscular dystrophy MONDO:0020169 Orphanet:270 Orphanet:98578 obsolete rare disorder with ptosis -MONDO:0008118 odontomatosis-aortae esophagus stenosis syndrome MONDO:0015336 Orphanet:2724 Orphanet:139042 obsolete malformation syndrome with odontal and/or periodontal component -MONDO:0008118 odontomatosis-aortae esophagus stenosis syndrome MONDO:0026190 Orphanet:2724 Orphanet:183580 obsolete genetic malformation syndrome with odontal and/or periodontal component -MONDO:0008118 odontomatosis-aortae esophagus stenosis syndrome MONDO:8000032 Orphanet:2724 Orphanet:377789 obsolete malformation syndrome -MONDO:0008119 spinocerebellar ataxia type 1 MONDO:0034961 Orphanet:98755 Orphanet:519341 obsolete rare brainstem or cerebellar disorder with ophthalmic involvement as a major feature -MONDO:0008123 autosomal dominant omodysplasia MONDO:8000031 Orphanet:93328 Orphanet:557494 obsolete subtype of a disorder -MONDO:0008127 ophthalmomandibulomelic dysplasia MONDO:0020215 Orphanet:2741 Orphanet:98628 obsolete syndromic corneal dystrophy -MONDO:0008127 ophthalmomandibulomelic dysplasia MONDO:8000032 Orphanet:2741 Orphanet:377789 obsolete malformation syndrome -MONDO:0008130 ophthalmoplegia-intellectual disability-lingua scrotalis syndrome MONDO:0035863 Orphanet:2743 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0008130 ophthalmoplegia-intellectual disability-lingua scrotalis syndrome MONDO:8000032 Orphanet:2743 Orphanet:377789 obsolete malformation syndrome -MONDO:0008133 optic atrophy 3 MONDO:0016799 Orphanet:67036 Orphanet:254822 obsolete mitochondrial oxidative phosphorylation disorder with no known mechanism -MONDO:0008134 autosomal dominant optic atrophy, classic form MONDO:0016799 Orphanet:98673 Orphanet:254822 obsolete mitochondrial oxidative phosphorylation disorder with no known mechanism -MONDO:0008137 orofaciodigital syndrome X MONDO:0035863 Orphanet:2756 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0008137 orofaciodigital syndrome X MONDO:8000032 Orphanet:2756 Orphanet:377789 obsolete malformation syndrome -MONDO:0008138 syndromic orbital border hypoplasia MONDO:8000032 Orphanet:98606 Orphanet:377789 obsolete malformation syndrome -MONDO:0008139 OSLAM syndrome MONDO:0015959 Orphanet:2760 Orphanet:183527 obsolete inherited syndrome with bone tumors as a major feature -MONDO:0008139 OSLAM syndrome MONDO:0800095 Orphanet:2760 Orphanet:93459 obsolete syndrome with synostosis or other joint formation defect -MONDO:0008139 OSLAM syndrome MONDO:8000032 Orphanet:2760 Orphanet:377789 obsolete malformation syndrome -MONDO:0008142 Thiemann disease, familial form MONDO:0018385 Orphanet:3314 Orphanet:399391 obsolete osteochondrosis of genetic origin -MONDO:0008145 Ollier disease MONDO:0015959 Orphanet:296 Orphanet:183527 obsolete inherited syndrome with bone tumors as a major feature -MONDO:0008145 Ollier disease MONDO:0020063 Orphanet:296 Orphanet:98196 obsolete malformation syndrome with hamartosis -MONDO:0008145 Ollier disease MONDO:0800089 Orphanet:296 Orphanet:93450 obsolete primary bone dysplasia with disorganized development of skeletal components -MONDO:0008146 osteogenesis imperfecta type 1 MONDO:8000031 Orphanet:216796 Orphanet:557494 obsolete subtype of a disorder -MONDO:0008147 osteogenesis imperfecta type 2 MONDO:8000031 Orphanet:216804 Orphanet:557494 obsolete subtype of a disorder -MONDO:0008148 osteogenesis imperfecta type 4 MONDO:0015669 Orphanet:216820 Orphanet:167762 obsolete rare disease with dentinogenesis imperfecta -MONDO:0008148 osteogenesis imperfecta type 4 MONDO:8000031 Orphanet:216820 Orphanet:557494 obsolete subtype of a disorder -MONDO:0008150 osteoglophonic dwarfism MONDO:0800089 Orphanet:2645 Orphanet:93450 obsolete primary bone dysplasia with disorganized development of skeletal components -MONDO:0008150 osteoglophonic dwarfism MONDO:8000032 Orphanet:2645 Orphanet:377789 obsolete malformation syndrome -MONDO:0008151 gnathodiaphyseal dysplasia MONDO:0019704 Orphanet:53697 Orphanet:93446 obsolete primary bone dysplasia with decreased bone density -MONDO:0008151 gnathodiaphyseal dysplasia MONDO:0800089 Orphanet:53697 Orphanet:93450 obsolete primary bone dysplasia with disorganized development of skeletal components -MONDO:0008151 gnathodiaphyseal dysplasia MONDO:8000032 Orphanet:53697 Orphanet:377789 obsolete malformation syndrome -MONDO:0008152 multicentric carpo-tarsal osteolysis with or without nephropathy MONDO:0019721 Orphanet:2774 Orphanet:93547 obsolete syndromic renal or urinary tract malformation -MONDO:0008152 multicentric carpo-tarsal osteolysis with or without nephropathy MONDO:8000032 Orphanet:2774 Orphanet:377789 obsolete malformation syndrome -MONDO:0008153 progressive osseous heteroplasia MONDO:0018231 Orphanet:2762 Orphanet:364531 obsolete primary bone dysplasia with progressive ossification of skin, skeletal muscle, fascia, tendons and ligaments -MONDO:0008153 progressive osseous heteroplasia MONDO:0018798 Orphanet:2762 Orphanet:477808 obsolete other genetic dermis disorder -MONDO:0008153 progressive osseous heteroplasia MONDO:0800089 Orphanet:2762 Orphanet:93450 obsolete primary bone dysplasia with disorganized development of skeletal components -MONDO:0008153 progressive osseous heteroplasia MONDO:8000032 Orphanet:2762 Orphanet:377789 obsolete malformation syndrome -MONDO:0008155 osteomesopyknosis MONDO:8000032 Orphanet:2777 Orphanet:377789 obsolete malformation syndrome -MONDO:0008156 autosomal dominant osteopetrosis 2 MONDO:8000032 Orphanet:53 Orphanet:377789 obsolete malformation syndrome -MONDO:0008158 dacryocystitis-osteopoikilosis syndrome MONDO:0800084 Orphanet:1562 Orphanet:93444 obsolete primary bone dysplasia with increased bone density -MONDO:0008158 dacryocystitis-osteopoikilosis syndrome MONDO:8000032 Orphanet:1562 Orphanet:377789 obsolete malformation syndrome -MONDO:0008161 otodental syndrome MONDO:0015336 Orphanet:2791 Orphanet:139042 obsolete malformation syndrome with odontal and/or periodontal component -MONDO:0008161 otodental syndrome MONDO:0026190 Orphanet:2791 Orphanet:183580 obsolete genetic malformation syndrome with odontal and/or periodontal component -MONDO:0008161 otodental syndrome MONDO:8000032 Orphanet:2791 Orphanet:377789 obsolete malformation syndrome -MONDO:0008163 otofaciocervical syndrome MONDO:0015334 Orphanet:2792 Orphanet:139036 obsolete branchial arch or oral-acral syndrome -MONDO:0008163 otofaciocervical syndrome MONDO:0026189 Orphanet:2792 Orphanet:183576 obsolete genetic branchial arch or oral-acral syndrome -MONDO:0008163 otofaciocervical syndrome MONDO:0035863 Orphanet:2792 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0008163 otofaciocervical syndrome MONDO:8000032 Orphanet:2792 Orphanet:377789 obsolete malformation syndrome -MONDO:0008168 ovarian fibroma MONDO:0019965 Orphanet:314473 Orphanet:97293 obsolete rare benign ovarian tumor -MONDO:0008170 ovarian cancer MONDO:0015861 Orphanet:213500 Orphanet:180220 obsolete rare uterine adnexal tumor -MONDO:0008175 pacman dysplasia MONDO:8000032 Orphanet:1952 Orphanet:377789 obsolete malformation syndrome -MONDO:0008177 extramammary Paget disease MONDO:0019300 Orphanet:2800 Orphanet:79386 obsolete rare skin tumor or hamartoma -MONDO:0008177 extramammary Paget disease MONDO:0020037 Orphanet:2800 Orphanet:98063 obsolete rare gynecological tumor -MONDO:0008179 paroxysmal extreme pain disorder MONDO:0019117 Orphanet:46348 Orphanet:71859 obsolete genetic nervous system disorder -MONDO:0008179 paroxysmal extreme pain disorder MONDO:0020009 Orphanet:46348 Orphanet:98006 obsolete rare neurologic disease -MONDO:0008180 congenital velopharyngeal incompetence MONDO:0015504 Orphanet:2291 Orphanet:156249 obsolete larynx anomaly -MONDO:0008180 congenital velopharyngeal incompetence MONDO:0033335 Orphanet:2291 Orphanet:435609 obsolete genetic larynx anomaly -MONDO:0008180 congenital velopharyngeal incompetence MONDO:8000030 Orphanet:2291 Orphanet:377791 obsolete morphological anomaly -MONDO:0008182 nasopalpebral lipoma-coloboma syndrome MONDO:0020157 Orphanet:2399 Orphanet:98566 obsolete syndromic palpebral coloboma -MONDO:0008182 nasopalpebral lipoma-coloboma syndrome MONDO:0043008 Orphanet:2399 Orphanet:330206 obsolete genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability -MONDO:0008182 nasopalpebral lipoma-coloboma syndrome MONDO:8000032 Orphanet:2399 Orphanet:377789 obsolete malformation syndrome -MONDO:0008183 annular pancreas MONDO:0015213 Orphanet:675 Orphanet:108971 obsolete non-syndromic visceral malformation -MONDO:0008183 annular pancreas MONDO:8000030 Orphanet:675 Orphanet:377791 obsolete morphological anomaly -MONDO:0008185 hereditary chronic pancreatitis MONDO:0015112 Orphanet:676 Orphanet:101937 obsolete rare pancreatic disease -MONDO:0008185 hereditary chronic pancreatitis MONDO:0015618 Orphanet:676 Orphanet:165661 obsolete genetic pancreatic disease -MONDO:0008185 hereditary chronic pancreatitis MONDO:0015888 Orphanet:676 Orphanet:181381 obsolete other rare diabetes mellitus -MONDO:0008196 parastremmatic dwarfism MONDO:8000032 Orphanet:2646 Orphanet:377789 obsolete malformation syndrome -MONDO:0008198 parietal foramina with cleidocranial dysplasia MONDO:0019709 Orphanet:251290 Orphanet:93451 obsolete cleidocranial dysplasia and isolated cranial ossification defect -MONDO:0008198 parietal foramina with cleidocranial dysplasia MONDO:0020018 Orphanet:251290 Orphanet:98038 obsolete cranial malformation -MONDO:0008198 parietal foramina with cleidocranial dysplasia MONDO:8000032 Orphanet:251290 Orphanet:377789 obsolete malformation syndrome -MONDO:0008199 late-onset Parkinson disease MONDO:0017635 Orphanet:411602 Orphanet:306666 obsolete parkinsonian syndrome due to neurodegenerative disease -MONDO:0008199 late-onset Parkinson disease MONDO:0017661 Orphanet:411602 Orphanet:307055 obsolete rare parkinsonian syndrome due to genetic neurodegenerative disease -MONDO:0008199 late-onset Parkinson disease MONDO:0020136 Orphanet:411602 Orphanet:98534 obsolete neurodegenerative disease with dementia -MONDO:0008199 late-onset Parkinson disease MONDO:0021037 Orphanet:411602 Orphanet:276058 obsolete genetic neurodegenerative disease with dementia -MONDO:0008201 Perry syndrome MONDO:0017635 Orphanet:178509 Orphanet:306666 obsolete parkinsonian syndrome due to neurodegenerative disease -MONDO:0008201 Perry syndrome MONDO:0017661 Orphanet:178509 Orphanet:307055 obsolete rare parkinsonian syndrome due to genetic neurodegenerative disease -MONDO:0008205 patella aplasia/hypoplasia MONDO:0015227 Orphanet:86789 Orphanet:109011 obsolete non-syndromic limb malformation -MONDO:0008205 patella aplasia/hypoplasia MONDO:0019712 Orphanet:86789 Orphanet:93455 obsolete patellar dysostosis -MONDO:0008205 patella aplasia/hypoplasia MONDO:8000030 Orphanet:86789 Orphanet:377791 obsolete morphological anomaly -MONDO:0008206 benign paroxysmal tonic upgaze of childhood with ataxia MONDO:0017657 Orphanet:1179 Orphanet:306768 obsolete rare paroxysmal movement disorder -MONDO:0008209 Char syndrome MONDO:0020169 Orphanet:46627 Orphanet:98578 obsolete rare disorder with ptosis -MONDO:0008209 Char syndrome MONDO:0035863 Orphanet:46627 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0008209 Char syndrome MONDO:8000032 Orphanet:46627 Orphanet:377789 obsolete malformation syndrome -MONDO:0008211 pseudoleprechaunism syndrome, Patterson type MONDO:0015971 Orphanet:2976 Orphanet:183637 obsolete rare genetic adrenal disease -MONDO:0008211 pseudoleprechaunism syndrome, Patterson type MONDO:0017820 Orphanet:2976 Orphanet:314749 obsolete obsolete disease with Cushing syndrome as a major feature -MONDO:0008211 pseudoleprechaunism syndrome, Patterson type MONDO:8000032 Orphanet:2976 Orphanet:377789 obsolete malformation syndrome -MONDO:0008215 adult-onset autosomal dominant demyelinating leukodystrophy MONDO:0034961 Orphanet:99027 Orphanet:519341 obsolete rare brainstem or cerebellar disorder with ophthalmic involvement as a major feature -MONDO:0008217 pelvis-shoulder dysplasia MONDO:0017432 Orphanet:2839 Orphanet:294955 obsolete syndrome with limb reduction defects -MONDO:0008217 pelvis-shoulder dysplasia MONDO:8000032 Orphanet:2839 Orphanet:377789 obsolete malformation syndrome -MONDO:0008218 Hailey-Hailey disease MONDO:0015946 Orphanet:2841 Orphanet:183426 obsolete rare genetic epidermal disorder -MONDO:0008218 Hailey-Hailey disease MONDO:0019274 Orphanet:2841 Orphanet:79359 obsolete other epidermal disorder -MONDO:0008221 prolidase deficiency MONDO:0019058 Orphanet:742 Orphanet:68385 obsolete neurometabolic disease -MONDO:0008221 prolidase deficiency MONDO:0019301 Orphanet:742 Orphanet:79387 obsolete metabolic disease with skin involvement -MONDO:0008221 prolidase deficiency MONDO:0035471 Orphanet:742 Orphanet:568047 obsolete disorder with multisystemic involvement and primary lymphedema -MONDO:0008221 prolidase deficiency MONDO:0035862 Orphanet:742 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome -MONDO:0008222 Andersen-Tawil syndrome MONDO:0015110 Orphanet:37553 Orphanet:101934 obsolete genetic cardiac rhythm disease -MONDO:0008227 peripheral dysostosis MONDO:8000032 Orphanet:1795 Orphanet:377789 obsolete malformation syndrome -MONDO:0008234 multiple endocrine neoplasia type 2A MONDO:8000031 Orphanet:247698 Orphanet:557494 obsolete subtype of a disorder -MONDO:0008237 phocomelia-ectrodactyly-deafness-sinus arrhythmia syndrome MONDO:0017432 Orphanet:2878 Orphanet:294955 obsolete syndrome with limb reduction defects -MONDO:0008237 phocomelia-ectrodactyly-deafness-sinus arrhythmia syndrome MONDO:0019589 Orphanet:2878 Orphanet:90642 obsolete syndromic genetic hearing loss -MONDO:0008237 phocomelia-ectrodactyly-deafness-sinus arrhythmia syndrome MONDO:0800090 Orphanet:2878 Orphanet:498477 obsolete ectrodactyly with and without other manifestations -MONDO:0008237 phocomelia-ectrodactyly-deafness-sinus arrhythmia syndrome MONDO:8000032 Orphanet:2878 Orphanet:377789 obsolete malformation syndrome -MONDO:0008245 piebald trait-neurologic defects syndrome MONDO:0035862 Orphanet:2885 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome -MONDO:0008245 piebald trait-neurologic defects syndrome MONDO:8000032 Orphanet:2885 Orphanet:377789 obsolete malformation syndrome -MONDO:0008247 Robin sequence-oligodactyly syndrome MONDO:0015335 Orphanet:3104 Orphanet:139039 obsolete Mendelian syndromes with cleft lip/palate -MONDO:0008247 Robin sequence-oligodactyly syndrome MONDO:8000032 Orphanet:3104 Orphanet:377789 obsolete malformation syndrome -MONDO:0008250 isolated growth hormone deficiency type II MONDO:8000031 Orphanet:231679 Orphanet:557494 obsolete subtype of a disorder -MONDO:0008251 familial pityriasis rubra pilaris MONDO:0026150 Orphanet:2897 Orphanet:183438 obsolete genetic erythrokeratoderma -MONDO:0008259 familial spontaneous pneumothorax MONDO:0015118 Orphanet:2903 Orphanet:101944 obsolete rare pulmonary disease -MONDO:0008259 familial spontaneous pneumothorax MONDO:0015510 Orphanet:2903 Orphanet:156610 obsolete rare genetic respiratory disease -MONDO:0008260 Kindler syndrome MONDO:0019304 Orphanet:2908 Orphanet:79390 obsolete rare photodermatosis -MONDO:0008262 Poland syndrome MONDO:0800094 Orphanet:2911 Orphanet:498454 obsolete dysostosis with brachydactyly with extraskeletal manifestations -MONDO:0008262 Poland syndrome MONDO:8000032 Orphanet:2911 Orphanet:377789 obsolete malformation syndrome -MONDO:0008267 orofaciodigital syndrome V MONDO:0035863 Orphanet:2919 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0008267 orofaciodigital syndrome V MONDO:8000032 Orphanet:2919 Orphanet:377789 obsolete malformation syndrome -MONDO:0008268 polydactyly-myopia syndrome MONDO:0017434 Orphanet:2917 Orphanet:294959 obsolete syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy -MONDO:0008268 polydactyly-myopia syndrome MONDO:8000032 Orphanet:2917 Orphanet:377789 obsolete malformation syndrome -MONDO:0008269 polydactyly of a biphalangeal thumb MONDO:0034669 Orphanet:93339 Orphanet:498464 obsolete non-syndromic preaxial polydactyly -MONDO:0008269 polydactyly of a biphalangeal thumb MONDO:8000030 Orphanet:93339 Orphanet:377791 obsolete morphological anomaly -MONDO:0008270 polydactyly of a triphalangeal thumb MONDO:0034669 Orphanet:93336 Orphanet:498464 obsolete non-syndromic preaxial polydactyly -MONDO:0008270 polydactyly of a triphalangeal thumb MONDO:8000030 Orphanet:93336 Orphanet:377791 obsolete morphological anomaly -MONDO:0008271 polydactyly of an index finger MONDO:0034669 Orphanet:93337 Orphanet:498464 obsolete non-syndromic preaxial polydactyly -MONDO:0008271 polydactyly of an index finger MONDO:8000030 Orphanet:93337 Orphanet:377791 obsolete morphological anomaly -MONDO:0008272 polysyndactyly 4 MONDO:0034669 Orphanet:93338 Orphanet:498464 obsolete non-syndromic preaxial polydactyly -MONDO:0008272 polysyndactyly 4 MONDO:8000030 Orphanet:93338 Orphanet:377791 obsolete morphological anomaly -MONDO:0008273 actinic prurigo MONDO:0019304 Orphanet:330061 Orphanet:79390 obsolete rare photodermatosis -MONDO:0008274 polyostotic fibrous dysplasia MONDO:8000031 Orphanet:93276 Orphanet:557494 obsolete subtype of a disorder -MONDO:0008276 generalized juvenile polyposis/juvenile polyposis coli MONDO:8000031 Orphanet:329971 Orphanet:557494 obsolete subtype of a disorder -MONDO:0008280 Peutz-Jeghers syndrome MONDO:0015945 Orphanet:2869 Orphanet:183422 obsolete polymalformative genetic syndrome with increased risk of developing cancer -MONDO:0008280 Peutz-Jeghers syndrome MONDO:0017128 Orphanet:2869 Orphanet:271835 obsolete inherited digestive tract tumor -MONDO:0008280 Peutz-Jeghers syndrome MONDO:0018188 Orphanet:2869 Orphanet:363314 obsolete hereditary intestinal polyposis -MONDO:0008280 Peutz-Jeghers syndrome MONDO:0020063 Orphanet:2869 Orphanet:98196 obsolete malformation syndrome with hamartosis -MONDO:0008280 Peutz-Jeghers syndrome MONDO:0035645 Orphanet:2869 Orphanet:589746 obsolete inherited gynecological cancer-predisposing syndrome -MONDO:0008286 crossed polysyndactyly MONDO:0017434 Orphanet:2935 Orphanet:294959 obsolete syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy -MONDO:0008286 crossed polysyndactyly MONDO:8000032 Orphanet:2935 Orphanet:377789 obsolete malformation syndrome -MONDO:0008287 Greig cephalopolysyndactyly syndrome MONDO:0017434 Orphanet:380 Orphanet:294959 obsolete syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy -MONDO:0008287 Greig cephalopolysyndactyly syndrome MONDO:0035863 Orphanet:380 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0008287 Greig cephalopolysyndactyly syndrome MONDO:8000032 Orphanet:380 Orphanet:377789 obsolete malformation syndrome -MONDO:0008289 brain small vessel disease 1 with or without ocular anomalies MONDO:0018790 Orphanet:36383 Orphanet:477765 obsolete COL4A1 or COL4A2-related cerebral small vessel disease with hemorrhagic tendancy -MONDO:0008291 porokeratosis plantaris palmaris et disseminata MONDO:0016518 Orphanet:737 Orphanet:2338 obsolete isolated punctate palmoplantar keratoderma -MONDO:0008291 porokeratosis plantaris palmaris et disseminata MONDO:0026152 Orphanet:737 Orphanet:183444 obsolete genetic porokeratosis -MONDO:0008292 punctate palmoplantar keratoderma type 2 MONDO:0016518 Orphanet:79502 Orphanet:2338 obsolete isolated punctate palmoplantar keratoderma -MONDO:0008295 sporadic porphyria cutanea tarda MONDO:8000031 Orphanet:443057 Orphanet:557494 obsolete subtype of a disorder -MONDO:0008296 familial porphyria cutanea tarda MONDO:8000031 Orphanet:443062 Orphanet:557494 obsolete subtype of a disorder -MONDO:0008298 postaxial tetramelic oligodactyly MONDO:0017432 Orphanet:2730 Orphanet:294955 obsolete syndrome with limb reduction defects -MONDO:0008298 postaxial tetramelic oligodactyly MONDO:8000032 Orphanet:2730 Orphanet:377789 obsolete malformation syndrome -MONDO:0008300 Prader-Willi syndrome MONDO:0015890 Orphanet:739 Orphanet:181387 obsolete rare disorder with congenital hypogonadotropic hypogonadism -MONDO:0008300 Prader-Willi syndrome MONDO:0016565 Orphanet:739 Orphanet:240371 obsolete syndromic genetic obesity -MONDO:0008300 Prader-Willi syndrome MONDO:0020016 Orphanet:739 Orphanet:98033 obsolete rare neurologic disease with psychiatric involvement -MONDO:0008300 Prader-Willi syndrome MONDO:0032221 Orphanet:739 Orphanet:399846 obsolete rare disorder with female infertility due to a congenital hypogonadotropic hypogonadism -MONDO:0008300 Prader-Willi syndrome MONDO:0035863 Orphanet:739 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0008301 Guttmacher syndrome MONDO:0015620 Orphanet:2957 Orphanet:165707 obsolete syndromic urogenital tract malformation -MONDO:0008301 Guttmacher syndrome MONDO:0017434 Orphanet:2957 Orphanet:294959 obsolete syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy -MONDO:0008301 Guttmacher syndrome MONDO:8000032 Orphanet:2957 Orphanet:377789 obsolete malformation syndrome -MONDO:0008305 Currarino triad MONDO:0015246 Orphanet:1552 Orphanet:117573 obsolete syndromic anorectal malformation -MONDO:0008305 Currarino triad MONDO:0015846 Orphanet:1552 Orphanet:180148 obsolete syndromic uterovaginal malformation -MONDO:0008305 Currarino triad MONDO:0019711 Orphanet:1552 Orphanet:93454 obsolete dysostosis with predominant vertebral and costal involvement -MONDO:0008305 Currarino triad MONDO:8000032 Orphanet:1552 Orphanet:377789 obsolete malformation syndrome -MONDO:0008306 ABri amyloidosis MONDO:8000031 Orphanet:97345 Orphanet:557494 obsolete subtype of a disorder -MONDO:0008310 Hutchinson-Gilford progeria syndrome MONDO:0015331 Orphanet:740 Orphanet:139027 obsolete malformation syndrome with skin/mucosae involvement -MONDO:0008310 Hutchinson-Gilford progeria syndrome MONDO:0029813 Orphanet:740 Orphanet:300766 obsolete laminopathy with premature aging -MONDO:0008310 Hutchinson-Gilford progeria syndrome MONDO:0031689 Orphanet:740 Orphanet:363245 obsolete genetic progeroid syndrome -MONDO:0008311 progeria-short stature-pigmented nevi syndrome MONDO:0015331 Orphanet:2959 Orphanet:139027 obsolete malformation syndrome with skin/mucosae involvement -MONDO:0008311 progeria-short stature-pigmented nevi syndrome MONDO:0031689 Orphanet:2959 Orphanet:363245 obsolete genetic progeroid syndrome -MONDO:0008311 progeria-short stature-pigmented nevi syndrome MONDO:8000032 Orphanet:2959 Orphanet:377789 obsolete malformation syndrome -MONDO:0008312 autosomal dominant prognathism MONDO:0043008 Orphanet:2964 Orphanet:330206 obsolete genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability -MONDO:0008312 autosomal dominant prognathism MONDO:8000032 Orphanet:2964 Orphanet:377789 obsolete malformation syndrome -MONDO:0008318 Proteus syndrome MONDO:0015501 Orphanet:744 Orphanet:156237 obsolete syndrome or malformation associated with head and neck malformations -MONDO:0008318 Proteus syndrome MONDO:0015651 Orphanet:744 Orphanet:166466 obsolete neurocutaneous syndrome with epilepsy -MONDO:0008318 Proteus syndrome MONDO:0016235 Orphanet:744 Orphanet:211277 obsolete complex vascular malformation with associated anomalies -MONDO:0008318 Proteus syndrome MONDO:0017414 Orphanet:744 Orphanet:294057 obsolete rare nevus -MONDO:0008318 Proteus syndrome MONDO:0033927 Orphanet:744 Orphanet:459537 obsolete genetic complex vascular malformation with associated anomalies -MONDO:0008318 Proteus syndrome MONDO:0800091 Orphanet:744 Orphanet:498448 obsolete overgrowth or tall stature syndrome with skeletal involvement -MONDO:0008318 Proteus syndrome MONDO:8000032 Orphanet:744 Orphanet:377789 obsolete malformation syndrome -MONDO:0008322 pseudoachondroplasia MONDO:0019692 Orphanet:750 Orphanet:93429 obsolete multiple epiphyseal dysplasia and pseudoachondroplasia -MONDO:0008323 Liddle syndrome MONDO:0015512 Orphanet:526 Orphanet:156629 obsolete genetic hypertension -MONDO:0008329 autosomal dominant pseudohypoaldosteronism type 1 MONDO:8000031 Orphanet:171871 Orphanet:557494 obsolete subtype of a disorder -MONDO:0008332 platelet-type von Willebrand disease MONDO:0017142 Orphanet:52530 Orphanet:275736 obsolete hemorrhagic disorder due to a qualitative platelet defect -MONDO:0008335 short stature-craniofacial anomalies-genital hypoplasia syndrome MONDO:0043008 Orphanet:2994 Orphanet:330206 obsolete genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability -MONDO:0008335 short stature-craniofacial anomalies-genital hypoplasia syndrome MONDO:8000032 Orphanet:2994 Orphanet:377789 obsolete malformation syndrome -MONDO:0008337 familial pterygium of the conjunctiva MONDO:0020198 Orphanet:2989 Orphanet:98610 obsolete rare conjunctival disease -MONDO:0008337 familial pterygium of the conjunctiva MONDO:8000030 Orphanet:2989 Orphanet:377791 obsolete morphological anomaly -MONDO:0008338 contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A MONDO:8000032 Orphanet:65743 Orphanet:377789 obsolete malformation syndrome -MONDO:0008339 antecubital pterygium syndrome MONDO:0018798 Orphanet:2987 Orphanet:477808 obsolete other genetic dermis disorder -MONDO:0008339 antecubital pterygium syndrome MONDO:8000032 Orphanet:2987 Orphanet:377789 obsolete malformation syndrome -MONDO:0008340 ptosis, hereditary congenital, 1 MONDO:0020169 Orphanet:91411 Orphanet:98578 obsolete rare disorder with ptosis -MONDO:0008341 ptosis-strabismus-ectopic pupils syndrome MONDO:0020169 Orphanet:2999 Orphanet:98578 obsolete rare disorder with ptosis -MONDO:0008341 ptosis-strabismus-ectopic pupils syndrome MONDO:0020253 Orphanet:2999 Orphanet:98683 obsolete syndrome with a symptomatic strabismus -MONDO:0008341 ptosis-strabismus-ectopic pupils syndrome MONDO:8000032 Orphanet:2999 Orphanet:377789 obsolete malformation syndrome -MONDO:0008343 pulmonary atresia with ventricular septal defect MONDO:8000030 Orphanet:1207 Orphanet:377791 obsolete morphological anomaly -MONDO:0008346 pulmonary hemosiderosis MONDO:0017031 Orphanet:99931 Orphanet:264762 obsolete primary interstitial lung disease in childhood and adulthood MONDO:0008347 obsolete idiopathic and/or familial pulmonary arterial hypertension MONDO:0000001 Orphanet:422 Orphanet:377788 disease -MONDO:0008347 obsolete idiopathic and/or familial pulmonary arterial hypertension MONDO:0015510 Orphanet:422 Orphanet:156610 obsolete rare genetic respiratory disease -MONDO:0008347 obsolete idiopathic and/or familial pulmonary arterial hypertension MONDO:0015924 Orphanet:422 Orphanet:182090 pulmonary arterial hypertension -MONDO:0008348 pulmonary nodular lymphoid hyperplasia MONDO:0015118 Orphanet:60026 Orphanet:101944 obsolete rare pulmonary disease -MONDO:0008353 pruritic urticarial papules and plaques of pregnancy MONDO:0015582 Orphanet:64745 Orphanet:163637 obsolete rare disorder related with pregnancy, childbirth and puerperium -MONDO:0008353 pruritic urticarial papules and plaques of pregnancy MONDO:0019298 Orphanet:64745 Orphanet:79384 obsolete rare urticaria -MONDO:0008357 radial hypoplasia-triphalangeal thumbs-hypospadias-maxillary diastema syndrome MONDO:0015620 Orphanet:2252 Orphanet:165707 obsolete syndromic urogenital tract malformation -MONDO:0008357 radial hypoplasia-triphalangeal thumbs-hypospadias-maxillary diastema syndrome MONDO:0043008 Orphanet:2252 Orphanet:330206 obsolete genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability -MONDO:0008357 radial hypoplasia-triphalangeal thumbs-hypospadias-maxillary diastema syndrome MONDO:8000032 Orphanet:2252 Orphanet:377789 obsolete malformation syndrome -MONDO:0008358 radial ray hypoplasia-choanal atresia syndrome MONDO:0015503 Orphanet:3026 Orphanet:156246 obsolete nose and cavum anomaly -MONDO:0008358 radial ray hypoplasia-choanal atresia syndrome MONDO:0020253 Orphanet:3026 Orphanet:98683 obsolete syndrome with a symptomatic strabismus -MONDO:0008358 radial ray hypoplasia-choanal atresia syndrome MONDO:0033334 Orphanet:3026 Orphanet:435606 obsolete genetic nose and cavum anomaly -MONDO:0008358 radial ray hypoplasia-choanal atresia syndrome MONDO:8000032 Orphanet:3026 Orphanet:377789 obsolete malformation syndrome -MONDO:0008359 radio-renal syndrome MONDO:0017432 Orphanet:3015 Orphanet:294955 obsolete syndrome with limb reduction defects -MONDO:0008359 radio-renal syndrome MONDO:8000032 Orphanet:3015 Orphanet:377789 obsolete malformation syndrome -MONDO:0008365 recombinant 8 syndrome MONDO:0016998 Orphanet:96167 Orphanet:263708 obsolete complex chromosomal rearrangement -MONDO:0008365 recombinant 8 syndrome MONDO:8000032 Orphanet:96167 Orphanet:377789 obsolete malformation syndrome -MONDO:0008368 autosomal dominant distal renal tubular acidosis MONDO:8000031 Orphanet:93608 Orphanet:557494 obsolete subtype of a disorder -MONDO:0008369 proximal renal tubular acidosis MONDO:0017828 Orphanet:47159 Orphanet:314822 obsolete primary renal tubular acidosis -MONDO:0008371 Dowling-Degos disease MONDO:0018293 Orphanet:79145 Orphanet:371200 obsolete congenital disorder of glycosylation with skin involvement -MONDO:0008373 retinal arterial tortuosity MONDO:0018790 Orphanet:75326 Orphanet:477765 obsolete COL4A1 or COL4A2-related cerebral small vessel disease with hemorrhagic tendancy -MONDO:0008380 retinoblastoma MONDO:0015121 Orphanet:790 Orphanet:101950 obsolete rare eye tumor -MONDO:0008387 ring dermoid of cornea MONDO:0015121 Orphanet:91481 Orphanet:101950 obsolete rare eye tumor -MONDO:0008387 ring dermoid of cornea MONDO:0015966 Orphanet:91481 Orphanet:183619 obsolete hereditary eye tumor -MONDO:0008388 ringed hair disease MONDO:0019281 Orphanet:169 Orphanet:79366 obsolete isolated genetic hair shaft abnormality -MONDO:0008389 autosomal dominant Robinow syndrome MONDO:8000031 Orphanet:3107 Orphanet:557494 obsolete subtype of a disorder -MONDO:0008390 Rombo syndrome MONDO:0015950 Orphanet:3110 Orphanet:183487 obsolete inherited skin tumor -MONDO:0008390 Rombo syndrome MONDO:0019300 Orphanet:3110 Orphanet:79386 obsolete rare skin tumor or hamartoma -MONDO:0008392 Roussy-Levy syndrome MONDO:0015359 Orphanet:3115 Orphanet:140453 obsolete autosomal dominant hereditary demyelinating motor and sensory neuropathy -MONDO:0008393 Rubinstein-Taybi syndrome due to CREBBP mutations MONDO:8000031 Orphanet:353277 Orphanet:557494 obsolete subtype of a disorder -MONDO:0008394 Silver-Russell syndrome MONDO:0015329 Orphanet:813 Orphanet:139021 obsolete malformation syndrome with short stature -MONDO:0008394 Silver-Russell syndrome MONDO:0015945 Orphanet:813 Orphanet:183422 obsolete polymalformative genetic syndrome with increased risk of developing cancer -MONDO:0008394 Silver-Russell syndrome MONDO:0026187 Orphanet:813 Orphanet:183570 obsolete genetic malformation syndrome with short stature -MONDO:0008394 Silver-Russell syndrome MONDO:0035863 Orphanet:813 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0008395 Ruvalcaba syndrome MONDO:0035863 Orphanet:3121 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0008395 Ruvalcaba syndrome MONDO:8000032 Orphanet:3121 Orphanet:377789 obsolete malformation syndrome -MONDO:0008396 oculodental syndrome, Rutherfurd type MONDO:0015336 Orphanet:2709 Orphanet:139042 obsolete malformation syndrome with odontal and/or periodontal component -MONDO:0008396 oculodental syndrome, Rutherfurd type MONDO:0020215 Orphanet:2709 Orphanet:98628 obsolete syndromic corneal dystrophy -MONDO:0008396 oculodental syndrome, Rutherfurd type MONDO:0026190 Orphanet:2709 Orphanet:183580 obsolete genetic malformation syndrome with odontal and/or periodontal component -MONDO:0008396 oculodental syndrome, Rutherfurd type MONDO:8000032 Orphanet:2709 Orphanet:377789 obsolete malformation syndrome -MONDO:0008397 aplasia of lacrimal and salivary glands MONDO:0020194 Orphanet:86815 Orphanet:98604 obsolete congenital alacrima -MONDO:0008401 pleomorphic adenoma MONDO:8000031 Orphanet:454821 Orphanet:557494 obsolete subtype of a disorder -MONDO:0008402 cleft palate-large ears-small head syndrome MONDO:0015335 Orphanet:2013 Orphanet:139039 obsolete Mendelian syndromes with cleft lip/palate -MONDO:0008402 cleft palate-large ears-small head syndrome MONDO:8000032 Orphanet:2013 Orphanet:377789 obsolete malformation syndrome -MONDO:0008403 scalp defects-postaxial polydactyly syndrome MONDO:0017434 Orphanet:1003 Orphanet:294959 obsolete syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy -MONDO:0008403 scalp defects-postaxial polydactyly syndrome MONDO:0957001 Orphanet:1003 Orphanet:183481 obsolete hereditary mixed dermis disorder -MONDO:0008403 scalp defects-postaxial polydactyly syndrome MONDO:8000032 Orphanet:1003 Orphanet:377789 obsolete malformation syndrome -MONDO:0008404 scalp-ear-nipple syndrome MONDO:0015853 Orphanet:2036 Orphanet:180173 obsolete deficient breast volume or number -MONDO:0008404 scalp-ear-nipple syndrome MONDO:0020225 Orphanet:2036 Orphanet:98641 obsolete syndromic cataract -MONDO:0008404 scalp-ear-nipple syndrome MONDO:0043008 Orphanet:2036 Orphanet:330206 obsolete genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability -MONDO:0008404 scalp-ear-nipple syndrome MONDO:0957001 Orphanet:2036 Orphanet:183481 obsolete hereditary mixed dermis disorder -MONDO:0008404 scalp-ear-nipple syndrome MONDO:8000032 Orphanet:2036 Orphanet:377789 obsolete malformation syndrome -MONDO:0008406 obsolete autosomal recessive Emery-Dreifuss muscular dystrophy MONDO:0016830 Orphanet:98855 Orphanet:261 Emery-Dreifuss muscular dystrophy -MONDO:0008406 obsolete autosomal recessive Emery-Dreifuss muscular dystrophy MONDO:0029810 Orphanet:98855 Orphanet:300755 obsolete laminopathy with striated muscle involvement -MONDO:0008406 obsolete autosomal recessive Emery-Dreifuss muscular dystrophy MONDO:8000031 Orphanet:98855 Orphanet:557494 obsolete subtype of a disorder -MONDO:0008409 congenital myopathy 7A, myosin storage, autosomal dominant MONDO:8000031 Orphanet:636965 Orphanet:557494 obsolete subtype of a disorder -MONDO:0008411 ulnar-mammary syndrome MONDO:0015246 Orphanet:3138 Orphanet:117573 obsolete syndromic anorectal malformation -MONDO:0008411 ulnar-mammary syndrome MONDO:0015853 Orphanet:3138 Orphanet:180173 obsolete deficient breast volume or number -MONDO:0008411 ulnar-mammary syndrome MONDO:0017432 Orphanet:3138 Orphanet:294955 obsolete syndrome with limb reduction defects -MONDO:0008411 ulnar-mammary syndrome MONDO:0035863 Orphanet:3138 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0008411 ulnar-mammary syndrome MONDO:8000032 Orphanet:3138 Orphanet:377789 obsolete malformation syndrome -MONDO:0008416 palmoplantar keratoderma-sclerodactyly syndrome MONDO:0020094 Orphanet:384 Orphanet:98352 obsolete autosomal dominant disease with diffuse palmoplantar keratoderma as a major feature -MONDO:0008421 flat face-microstomia-ear anomaly syndrome MONDO:0043008 Orphanet:1968 Orphanet:330206 obsolete genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability -MONDO:0008421 flat face-microstomia-ear anomaly syndrome MONDO:8000032 Orphanet:1968 Orphanet:377789 obsolete malformation syndrome -MONDO:0008425 omphalocele syndrome, Shprintzen-Goldberg type MONDO:0015216 Orphanet:3164 Orphanet:108979 obsolete syndromic diaphragmatic or abdominal wall malformation -MONDO:0008425 omphalocele syndrome, Shprintzen-Goldberg type MONDO:0035863 Orphanet:3164 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0008425 omphalocele syndrome, Shprintzen-Goldberg type MONDO:8000032 Orphanet:3164 Orphanet:377789 obsolete malformation syndrome -MONDO:0008426 Shprintzen-Goldberg syndrome MONDO:0035863 Orphanet:2462 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0008426 Shprintzen-Goldberg syndrome MONDO:8000032 Orphanet:2462 Orphanet:377789 obsolete malformation syndrome -MONDO:0008428 septooptic dysplasia MONDO:0015310 Orphanet:3157 Orphanet:137905 obsolete syndromic optic nerve hypoplasia -MONDO:0008428 septooptic dysplasia MONDO:0017120 Orphanet:3157 Orphanet:269531 obsolete other syndrome with a central nervous system malformation as major feature -MONDO:0008428 septooptic dysplasia MONDO:0018609 Orphanet:3157 Orphanet:441434 obsolete syndromic hereditary optic neuropathy -MONDO:0008428 septooptic dysplasia MONDO:0019827 Orphanet:3157 Orphanet:95495 obsolete disease associated with non-acquired combined pituitary hormone deficiency -MONDO:0008428 septooptic dysplasia MONDO:0035862 Orphanet:3157 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome -MONDO:0008428 septooptic dysplasia MONDO:8000032 Orphanet:3157 Orphanet:377789 obsolete malformation syndrome -MONDO:0008429 Singleton-Merten dysplasia MONDO:0015710 Orphanet:85191 Orphanet:169361 obsolete immune dysregulation disease with immunodeficiency -MONDO:0008429 Singleton-Merten dysplasia MONDO:0018782 Orphanet:85191 Orphanet:477647 obsolete type 1 interferonopathy -MONDO:0008429 Singleton-Merten dysplasia MONDO:0019704 Orphanet:85191 Orphanet:93446 obsolete primary bone dysplasia with decreased bone density -MONDO:0008429 Singleton-Merten dysplasia MONDO:8000032 Orphanet:85191 Orphanet:377789 obsolete malformation syndrome -MONDO:0008433 small cell lung carcinoma MONDO:0015119 Orphanet:70573 Orphanet:101945 obsolete bronchopulmonary tumor -MONDO:0008434 Smith-Magenis syndrome MONDO:0015878 Orphanet:819 Orphanet:180772 obsolete rare disease with autism -MONDO:0008434 Smith-Magenis syndrome MONDO:0016565 Orphanet:819 Orphanet:240371 obsolete syndromic genetic obesity -MONDO:0008434 Smith-Magenis syndrome MONDO:0035863 Orphanet:819 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0008434 Smith-Magenis syndrome MONDO:8000032 Orphanet:819 Orphanet:377789 obsolete malformation syndrome -MONDO:0008436 Sneddon syndrome MONDO:0015939 Orphanet:820 Orphanet:182228 obsolete systemic autoimmune disease -MONDO:0008436 Sneddon syndrome MONDO:0016517 Orphanet:820 Orphanet:233655 obsolete rare genetic vascular disease -MONDO:0008436 Sneddon syndrome MONDO:0019110 Orphanet:820 Orphanet:71281 obsolete rare central nervous system or retinal vascular disease -MONDO:0008436 Sneddon syndrome MONDO:0019546 Orphanet:820 Orphanet:90077 obsolete other acquired skin disease -MONDO:0008437 hereditary spastic paraplegia 3A MONDO:0017914 Orphanet:100984 Orphanet:320342 obsolete pure or complex autosomal dominant spastic paraplegia -MONDO:0008438 hereditary spastic paraplegia 4 MONDO:0017914 Orphanet:100985 Orphanet:320342 obsolete pure or complex autosomal dominant spastic paraplegia -MONDO:0008440 spastic paraplegia-nephritis-deafness syndrome MONDO:0019589 Orphanet:2820 Orphanet:90642 obsolete syndromic genetic hearing loss -MONDO:0008440 spastic paraplegia-nephritis-deafness syndrome MONDO:0019721 Orphanet:2820 Orphanet:93547 obsolete syndromic renal or urinary tract malformation -MONDO:0008440 spastic paraplegia-nephritis-deafness syndrome MONDO:0032013 Orphanet:2820 Orphanet:377792 obsolete clinical syndrome -MONDO:0008445 delayed speech-facial asymmetry-strabismus-ear lobe creases syndrome MONDO:0020253 Orphanet:3038 Orphanet:98683 obsolete syndrome with a symptomatic strabismus -MONDO:0008445 delayed speech-facial asymmetry-strabismus-ear lobe creases syndrome MONDO:0035863 Orphanet:3038 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0008445 delayed speech-facial asymmetry-strabismus-ear lobe creases syndrome MONDO:8000032 Orphanet:3038 Orphanet:377789 obsolete malformation syndrome -MONDO:0008453 adult-onset proximal spinal muscular atrophy, autosomal dominant MONDO:0016224 Orphanet:209335 Orphanet:211037 obsolete autosomal dominant proximal spinal muscular atrophy -MONDO:0008458 spinocerebellar ataxia type 2 MONDO:0034961 Orphanet:98756 Orphanet:519341 obsolete rare brainstem or cerebellar disorder with ophthalmic involvement as a major feature -MONDO:0008460 splenogonadal fusion-limb defects-micrognathia syndrome MONDO:0015214 Orphanet:2063 Orphanet:108973 obsolete syndromic visceral malformation -MONDO:0008460 splenogonadal fusion-limb defects-micrognathia syndrome MONDO:0015334 Orphanet:2063 Orphanet:139036 obsolete branchial arch or oral-acral syndrome -MONDO:0008460 splenogonadal fusion-limb defects-micrognathia syndrome MONDO:0017432 Orphanet:2063 Orphanet:294955 obsolete syndrome with limb reduction defects -MONDO:0008460 splenogonadal fusion-limb defects-micrognathia syndrome MONDO:0026189 Orphanet:2063 Orphanet:183576 obsolete genetic branchial arch or oral-acral syndrome -MONDO:0008460 splenogonadal fusion-limb defects-micrognathia syndrome MONDO:8000032 Orphanet:2063 Orphanet:377789 obsolete malformation syndrome -MONDO:0008465 Patterson-Stevenson-Fontaine syndrome MONDO:0015334 Orphanet:2439 Orphanet:139036 obsolete branchial arch or oral-acral syndrome -MONDO:0008465 Patterson-Stevenson-Fontaine syndrome MONDO:0026189 Orphanet:2439 Orphanet:183576 obsolete genetic branchial arch or oral-acral syndrome -MONDO:0008465 Patterson-Stevenson-Fontaine syndrome MONDO:0800090 Orphanet:2439 Orphanet:498477 obsolete ectrodactyly with and without other manifestations -MONDO:0008465 Patterson-Stevenson-Fontaine syndrome MONDO:8000032 Orphanet:2439 Orphanet:377789 obsolete malformation syndrome -MONDO:0008466 Karsch-Neugebauer syndrome MONDO:0017432 Orphanet:2329 Orphanet:294955 obsolete syndrome with limb reduction defects -MONDO:0008466 Karsch-Neugebauer syndrome MONDO:8000032 Orphanet:2329 Orphanet:377789 obsolete malformation syndrome -MONDO:0008467 Czeizel-Losonci syndrome MONDO:0015620 Orphanet:2437 Orphanet:165707 obsolete syndromic urogenital tract malformation -MONDO:0008467 Czeizel-Losonci syndrome MONDO:0043008 Orphanet:2437 Orphanet:330206 obsolete genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability -MONDO:0008467 Czeizel-Losonci syndrome MONDO:8000032 Orphanet:2437 Orphanet:377789 obsolete malformation syndrome -MONDO:0008472 spondyloepiphyseal dysplasia, MacDermot type MONDO:0019589 Orphanet:163668 Orphanet:90642 obsolete syndromic genetic hearing loss -MONDO:0008472 spondyloepiphyseal dysplasia, MacDermot type MONDO:8000032 Orphanet:163668 Orphanet:377789 obsolete malformation syndrome -MONDO:0008482 Sprengel deformity MONDO:8000030 Orphanet:3181 Orphanet:377791 obsolete morphological anomaly -MONDO:0008484 stapes ankylosis with broad thumbs and toes MONDO:0019589 Orphanet:140917 Orphanet:90642 obsolete syndromic genetic hearing loss -MONDO:0008484 stapes ankylosis with broad thumbs and toes MONDO:8000032 Orphanet:140917 Orphanet:377789 obsolete malformation syndrome -MONDO:0008485 sebocystomatosis MONDO:0019286 Orphanet:841 Orphanet:79372 obsolete sebaceous gland anomaly -MONDO:0008486 steatocystoma multiplex-natal teeth syndrome MONDO:0015336 Orphanet:3184 Orphanet:139042 obsolete malformation syndrome with odontal and/or periodontal component -MONDO:0008486 steatocystoma multiplex-natal teeth syndrome MONDO:0019286 Orphanet:3184 Orphanet:79372 obsolete sebaceous gland anomaly -MONDO:0008486 steatocystoma multiplex-natal teeth syndrome MONDO:0026190 Orphanet:3184 Orphanet:183580 obsolete genetic malformation syndrome with odontal and/or periodontal component -MONDO:0008486 steatocystoma multiplex-natal teeth syndrome MONDO:8000032 Orphanet:3184 Orphanet:377789 obsolete malformation syndrome -MONDO:0008488 holoprosencephaly-radial heart renal anomalies syndrome MONDO:0019721 Orphanet:3186 Orphanet:93547 obsolete syndromic renal or urinary tract malformation -MONDO:0008488 holoprosencephaly-radial heart renal anomalies syndrome MONDO:0035863 Orphanet:3186 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0008488 holoprosencephaly-radial heart renal anomalies syndrome MONDO:8000032 Orphanet:3186 Orphanet:377789 obsolete malformation syndrome -MONDO:0008490 otospondylomegaepiphyseal dysplasia, autosomal dominant MONDO:0015335 Orphanet:166100 Orphanet:139039 obsolete Mendelian syndromes with cleft lip/palate -MONDO:0008490 otospondylomegaepiphyseal dysplasia, autosomal dominant MONDO:0019589 Orphanet:166100 Orphanet:90642 obsolete syndromic genetic hearing loss -MONDO:0008490 otospondylomegaepiphyseal dysplasia, autosomal dominant MONDO:0024145 Orphanet:166100 Orphanet:138041 obsolete Pierre Robin syndrome associated with collagen disease -MONDO:0008490 otospondylomegaepiphyseal dysplasia, autosomal dominant MONDO:0043008 Orphanet:166100 Orphanet:330206 obsolete genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability -MONDO:0008490 otospondylomegaepiphyseal dysplasia, autosomal dominant MONDO:0800087 Orphanet:166100 Orphanet:93422 obsolete type 11 collagen-related bone disorder -MONDO:0008490 otospondylomegaepiphyseal dysplasia, autosomal dominant MONDO:8000032 Orphanet:166100 Orphanet:377789 obsolete malformation syndrome -MONDO:0008491 stiff-person syndrome MONDO:0015143 Orphanet:3198 Orphanet:102003 obsolete rare movement disorder -MONDO:0008491 stiff-person syndrome MONDO:0015888 Orphanet:3198 Orphanet:181381 obsolete other rare diabetes mellitus -MONDO:0008491 stiff-person syndrome MONDO:0015916 Orphanet:3198 Orphanet:182064 obsolete rare neuroinflammatory or neuroimmunological disease -MONDO:0008492 stiff skin syndrome MONDO:0019299 Orphanet:2833 Orphanet:79385 obsolete unclassified genetic skin disorder -MONDO:0008497 Stormorken syndrome MONDO:0035862 Orphanet:3204 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome -MONDO:0008499 short stature-wormian bones-dextrocardia syndrome MONDO:0035863 Orphanet:2863 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0008499 short stature-wormian bones-dextrocardia syndrome MONDO:8000032 Orphanet:2863 Orphanet:377789 obsolete malformation syndrome -MONDO:0008501 Sturge-Weber syndrome MONDO:0015145 Orphanet:3205 Orphanet:102006 obsolete neurovascular malformation -MONDO:0008501 Sturge-Weber syndrome MONDO:0015501 Orphanet:3205 Orphanet:156237 obsolete syndrome or malformation associated with head and neck malformations -MONDO:0008501 Sturge-Weber syndrome MONDO:0015651 Orphanet:3205 Orphanet:166466 obsolete neurocutaneous syndrome with epilepsy -MONDO:0008501 Sturge-Weber syndrome MONDO:0015658 Orphanet:3205 Orphanet:166487 obsolete cerebral diseases of vascular origin with epilepsy -MONDO:0008501 Sturge-Weber syndrome MONDO:0018719 Orphanet:3205 Orphanet:458830 obsolete obsolete rare capillary malformation with associated anomalies -MONDO:0008501 Sturge-Weber syndrome MONDO:0020063 Orphanet:3205 Orphanet:98196 obsolete malformation syndrome with hamartosis -MONDO:0008501 Sturge-Weber syndrome MONDO:0020222 Orphanet:3205 Orphanet:98638 obsolete rare disease with glaucoma as a major feature -MONDO:0008501 Sturge-Weber syndrome MONDO:0035862 Orphanet:3205 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome -MONDO:0008501 Sturge-Weber syndrome MONDO:8000032 Orphanet:3205 Orphanet:377789 obsolete malformation syndrome -MONDO:0008503 Worster-Drought syndrome MONDO:0020009 Orphanet:3465 Orphanet:98006 obsolete rare neurologic disease -MONDO:0008503 Worster-Drought syndrome MONDO:8000032 Orphanet:3465 Orphanet:377789 obsolete malformation syndrome -MONDO:0008504 supravalvular aortic stenosis MONDO:0017131 Orphanet:3193 Orphanet:271853 obsolete hereditary cardiac anomaly -MONDO:0008504 supravalvular aortic stenosis MONDO:0020286 Orphanet:3193 Orphanet:98718 obsolete aortic malformation -MONDO:0008504 supravalvular aortic stenosis MONDO:8000030 Orphanet:3193 Orphanet:377791 obsolete morphological anomaly -MONDO:0008509 distal symphalangism MONDO:0017429 Orphanet:3248 Orphanet:294949 obsolete joint formation defects -MONDO:0008509 distal symphalangism MONDO:8000030 Orphanet:3248 Orphanet:377791 obsolete morphological anomaly -MONDO:0008510 symphalangism with multiple anomalies of hands and feet MONDO:0017434 Orphanet:3246 Orphanet:294959 obsolete syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy -MONDO:0008510 symphalangism with multiple anomalies of hands and feet MONDO:0800095 Orphanet:3246 Orphanet:93459 obsolete syndrome with synostosis or other joint formation defect -MONDO:0008510 symphalangism with multiple anomalies of hands and feet MONDO:8000032 Orphanet:3246 Orphanet:377789 obsolete malformation syndrome -MONDO:0008511 proximal symphalangism MONDO:0800095 Orphanet:3250 Orphanet:93459 obsolete syndrome with synostosis or other joint formation defect -MONDO:0008511 proximal symphalangism MONDO:8000032 Orphanet:3250 Orphanet:377789 obsolete malformation syndrome -MONDO:0008512 syndactyly type 1 MONDO:8000030 Orphanet:93402 Orphanet:377791 obsolete morphological anomaly -MONDO:0008513 synpolydactyly type 1 MONDO:8000031 Orphanet:295195 Orphanet:557494 obsolete subtype of a disorder -MONDO:0008514 syndactyly type 3 MONDO:8000030 Orphanet:93404 Orphanet:377791 obsolete morphological anomaly -MONDO:0008515 syndactyly type 4 MONDO:8000030 Orphanet:93405 Orphanet:377791 obsolete morphological anomaly -MONDO:0008516 syndactyly type 5 MONDO:8000030 Orphanet:93406 Orphanet:377791 obsolete morphological anomaly -MONDO:0008517 syndactyly-polydactyly-ear lobe syndrome MONDO:0017434 Orphanet:3259 Orphanet:294959 obsolete syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy -MONDO:0008517 syndactyly-polydactyly-ear lobe syndrome MONDO:8000032 Orphanet:3259 Orphanet:377789 obsolete malformation syndrome -MONDO:0008520 brachydactyly-elbow wrist dysplasia syndrome MONDO:0800093 Orphanet:1275 Orphanet:498451 obsolete dysostosis with brachydactyly without extraskeletal manifestations -MONDO:0008520 brachydactyly-elbow wrist dysplasia syndrome MONDO:0800095 Orphanet:1275 Orphanet:93459 obsolete syndrome with synostosis or other joint formation defect -MONDO:0008520 brachydactyly-elbow wrist dysplasia syndrome MONDO:8000032 Orphanet:1275 Orphanet:377789 obsolete malformation syndrome -MONDO:0008521 tarsal-carpal coalition syndrome MONDO:0800095 Orphanet:1412 Orphanet:93459 obsolete syndrome with synostosis or other joint formation defect -MONDO:0008521 tarsal-carpal coalition syndrome MONDO:8000032 Orphanet:1412 Orphanet:377789 obsolete malformation syndrome -MONDO:0008523 Blau syndrome MONDO:0017023 Orphanet:90340 Orphanet:264714 obsolete secondary interstitial lung disease specific to childhood associated with a granulomatous disease -MONDO:0008523 Blau syndrome MONDO:0017259 Orphanet:90340 Orphanet:280926 obsolete systemic diseases with anterior uveitis -MONDO:0008523 Blau syndrome MONDO:0017261 Orphanet:90340 Orphanet:280933 obsolete systemic diseases with panuveitis -MONDO:0008523 Blau syndrome MONDO:0017369 Orphanet:90340 Orphanet:290839 obsolete autoinflammatory syndrome with immune deficiency -MONDO:0008523 Blau syndrome MONDO:0017370 Orphanet:90340 Orphanet:290842 obsolete autoinflammatory syndrome with skin involvement -MONDO:0008523 Blau syndrome MONDO:0017955 Orphanet:90340 Orphanet:324930 obsolete granulomatous autoinflammatory syndrome -MONDO:0008523 Blau syndrome MONDO:0018798 Orphanet:90340 Orphanet:477808 obsolete other genetic dermis disorder -MONDO:0008523 Blau syndrome MONDO:0020225 Orphanet:90340 Orphanet:98641 obsolete syndromic cataract -MONDO:0008537 telecanthus MONDO:0020158 Orphanet:98575 Orphanet:98567 obsolete eyelids malposition disorder -MONDO:0008538 temporal arteritis MONDO:0015488 Orphanet:397 Orphanet:156140 obsolete predominantly large-vessel vasculitis -MONDO:0008540 extensor tendons of finger anomalies MONDO:0015226 Orphanet:3294 Orphanet:109009 obsolete syndrome with limb malformations as a major feature -MONDO:0008540 extensor tendons of finger anomalies MONDO:8000032 Orphanet:3294 Orphanet:377789 obsolete malformation syndrome -MONDO:0008542 tetralogy of fallot MONDO:8000032 Orphanet:3303 Orphanet:377789 obsolete malformation syndrome -MONDO:0008544 tetramelic monodactyly MONDO:0017432 Orphanet:2564 Orphanet:294955 obsolete syndrome with limb reduction defects -MONDO:0008544 tetramelic monodactyly MONDO:8000032 Orphanet:2564 Orphanet:377789 obsolete malformation syndrome -MONDO:0008546 thanatophoric dysplasia type 1 MONDO:8000031 Orphanet:1860 Orphanet:557494 obsolete subtype of a disorder -MONDO:0008547 thanatophoric dysplasia type 2 MONDO:8000031 Orphanet:93274 Orphanet:557494 obsolete subtype of a disorder -MONDO:0008551 thoracolaryngopelvic dysplasia MONDO:0015930 Orphanet:3317 Orphanet:182111 obsolete respiratory malformation -MONDO:0008551 thoracolaryngopelvic dysplasia MONDO:0026203 Orphanet:3317 Orphanet:183622 obsolete genetic respiratory malformation -MONDO:0008551 thoracolaryngopelvic dysplasia MONDO:8000032 Orphanet:3317 Orphanet:377789 obsolete malformation syndrome -MONDO:0008562 thumb deformity-alopecia-pigmentation anomaly syndrome MONDO:0015226 Orphanet:2251 Orphanet:109009 obsolete syndrome with limb malformations as a major feature -MONDO:0008562 thumb deformity-alopecia-pigmentation anomaly syndrome MONDO:8000032 Orphanet:2251 Orphanet:377789 obsolete malformation syndrome -MONDO:0008563 thumb stiffness-brachydactyly-intellectual disability syndrome MONDO:0035863 Orphanet:1078 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0008563 thumb stiffness-brachydactyly-intellectual disability syndrome MONDO:0800094 Orphanet:1078 Orphanet:498454 obsolete dysostosis with brachydactyly with extraskeletal manifestations -MONDO:0008563 thumb stiffness-brachydactyly-intellectual disability syndrome MONDO:8000032 Orphanet:1078 Orphanet:377789 obsolete malformation syndrome -MONDO:0008565 familial thyroglossal duct cyst MONDO:0019859 Orphanet:93953 Orphanet:95718 obsolete congenital thyroid malformation without hypothyroidism -MONDO:0008565 familial thyroglossal duct cyst MONDO:8000030 Orphanet:93953 Orphanet:377791 obsolete morphological anomaly -MONDO:0008572 tibia, hypoplasia or aplasia of, with polydactyly MONDO:0017432 Orphanet:988 Orphanet:294955 obsolete syndrome with limb reduction defects -MONDO:0008572 tibia, hypoplasia or aplasia of, with polydactyly MONDO:8000032 Orphanet:988 Orphanet:377789 obsolete malformation syndrome -MONDO:0008582 tooth and nail syndrome MONDO:0015336 Orphanet:2228 Orphanet:139042 obsolete malformation syndrome with odontal and/or periodontal component -MONDO:0008582 tooth and nail syndrome MONDO:0026190 Orphanet:2228 Orphanet:183580 obsolete genetic malformation syndrome with odontal and/or periodontal component -MONDO:0008582 tooth and nail syndrome MONDO:8000032 Orphanet:2228 Orphanet:377789 obsolete malformation syndrome -MONDO:0008585 HELLP syndrome MONDO:0015582 Orphanet:244242 Orphanet:163637 obsolete rare disorder related with pregnancy, childbirth and puerperium -MONDO:0008585 HELLP syndrome MONDO:0016631 Orphanet:244242 Orphanet:248347 obsolete hemorrhagic disorder due to an acquired platelet anomaly -MONDO:0008586 esophageal atresia/tracheoesophageal fistula MONDO:0015207 Orphanet:1199 Orphanet:108959 obsolete non-syndromic esophageal malformation -MONDO:0008586 esophageal atresia/tracheoesophageal fistula MONDO:8000030 Orphanet:1199 Orphanet:377791 obsolete morphological anomaly -MONDO:0008587 tracheobronchopathia osteochondroplastica MONDO:0015118 Orphanet:3348 Orphanet:101944 obsolete rare pulmonary disease -MONDO:0008588 hereditary geniospasm MONDO:0017644 Orphanet:53372 Orphanet:306712 obsolete rare tremor disorder -MONDO:0008588 hereditary geniospasm MONDO:0017663 Orphanet:53372 Orphanet:307061 obsolete inherited tremor disorder -MONDO:0008591 tremor-nystagmus-duodenal ulcer syndrome MONDO:0017644 Orphanet:3350 Orphanet:306712 obsolete rare tremor disorder -MONDO:0008592 tricho-dento-osseous syndrome MONDO:0015336 Orphanet:3352 Orphanet:139042 obsolete malformation syndrome with odontal and/or periodontal component -MONDO:0008592 tricho-dento-osseous syndrome MONDO:0019282 Orphanet:3352 Orphanet:79367 obsolete syndromic hair shaft abnormality -MONDO:0008592 tricho-dento-osseous syndrome MONDO:0026190 Orphanet:3352 Orphanet:183580 obsolete genetic malformation syndrome with odontal and/or periodontal component -MONDO:0008592 tricho-dento-osseous syndrome MONDO:0800084 Orphanet:3352 Orphanet:93444 obsolete primary bone dysplasia with increased bone density -MONDO:0008592 tricho-dento-osseous syndrome MONDO:8000032 Orphanet:3352 Orphanet:377789 obsolete malformation syndrome -MONDO:0008594 familial multiple discoid fibromas MONDO:0015950 Orphanet:538756 Orphanet:183487 obsolete inherited skin tumor -MONDO:0008594 familial multiple discoid fibromas MONDO:0019300 Orphanet:538756 Orphanet:79386 obsolete rare skin tumor or hamartoma -MONDO:0008598 trichodysplasia-xeroderma syndrome MONDO:0019282 Orphanet:3361 Orphanet:79367 obsolete syndromic hair shaft abnormality -MONDO:0008598 trichodysplasia-xeroderma syndrome MONDO:8000032 Orphanet:3361 Orphanet:377789 obsolete malformation syndrome -MONDO:0008607 triphalangeal thumbs-brachyectrodactyly syndrome MONDO:0017434 Orphanet:2947 Orphanet:294959 obsolete syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy -MONDO:0008607 triphalangeal thumbs-brachyectrodactyly syndrome MONDO:8000032 Orphanet:2947 Orphanet:377789 obsolete malformation syndrome -MONDO:0008608 Down syndrome MONDO:0015246 Orphanet:870 Orphanet:117573 obsolete syndromic anorectal malformation -MONDO:0008608 Down syndrome MONDO:0015506 Orphanet:870 Orphanet:156532 obsolete rare syndrome with cardiac malformations -MONDO:0008608 Down syndrome MONDO:0018792 Orphanet:870 Orphanet:477771 obsolete Moyamoya syndrome -MONDO:0008608 Down syndrome MONDO:0020051 Orphanet:870 Orphanet:98131 obsolete total autosomal trisomy -MONDO:0008608 Down syndrome MONDO:0020162 Orphanet:870 Orphanet:98571 obsolete secondary ectropion -MONDO:0008608 Down syndrome MONDO:0020165 Orphanet:870 Orphanet:98574 obsolete syndromic epicanthus -MONDO:0008608 Down syndrome MONDO:0020167 Orphanet:870 Orphanet:98576 obsolete malposition of external canthus -MONDO:0008608 Down syndrome MONDO:0020211 Orphanet:870 Orphanet:98623 obsolete syndromic keratoconus -MONDO:0008608 Down syndrome MONDO:0020226 Orphanet:870 Orphanet:98642 obsolete chromosomal anomaly with cataract -MONDO:0008608 Down syndrome MONDO:0035863 Orphanet:870 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0008608 Down syndrome MONDO:8000032 Orphanet:870 Orphanet:377789 obsolete malformation syndrome -MONDO:0008611 humerus trochlea aplasia MONDO:0017432 Orphanet:3383 Orphanet:294955 obsolete syndrome with limb reduction defects -MONDO:0008611 humerus trochlea aplasia MONDO:8000032 Orphanet:3383 Orphanet:377789 obsolete malformation syndrome -MONDO:0008618 mesomelic dwarfism, Reinhardt-Pfeiffer type MONDO:0019697 Orphanet:2634 Orphanet:93438 obsolete mesomelic and rhizo-mesomelic dysplasia -MONDO:0008618 mesomelic dwarfism, Reinhardt-Pfeiffer type MONDO:8000032 Orphanet:2634 Orphanet:377789 obsolete malformation syndrome -MONDO:0008619 ulna metaphyseal dysplasia syndrome MONDO:0019693 Orphanet:1837 Orphanet:93430 obsolete multiple metaphyseal dysplasia -MONDO:0008620 upper limb mesomelic dysplasia MONDO:0019697 Orphanet:2497 Orphanet:93438 obsolete mesomelic and rhizo-mesomelic dysplasia -MONDO:0008620 upper limb mesomelic dysplasia MONDO:8000032 Orphanet:2497 Orphanet:377789 obsolete malformation syndrome -MONDO:0008621 uncombable hair syndrome MONDO:0019281 Orphanet:1410 Orphanet:79366 obsolete isolated genetic hair shaft abnormality -MONDO:0008622 tricho-retino-dento-digital syndrome MONDO:0020225 Orphanet:1264 Orphanet:98641 obsolete syndromic cataract -MONDO:0008622 tricho-retino-dento-digital syndrome MONDO:0020240 Orphanet:1264 Orphanet:98661 obsolete syndromic retinitis pigmentosa -MONDO:0008622 tricho-retino-dento-digital syndrome MONDO:8000032 Orphanet:1264 Orphanet:377789 obsolete malformation syndrome -MONDO:0008624 Upington disease MONDO:0800089 Orphanet:3408 Orphanet:93450 obsolete primary bone dysplasia with disorganized development of skeletal components -MONDO:0008624 Upington disease MONDO:8000032 Orphanet:3408 Orphanet:377789 obsolete malformation syndrome -MONDO:0008636 double uterus-hemivagina-renal agenesis syndrome MONDO:0015620 Orphanet:3411 Orphanet:165707 obsolete syndromic urogenital tract malformation -MONDO:0008636 double uterus-hemivagina-renal agenesis syndrome MONDO:0015846 Orphanet:3411 Orphanet:180148 obsolete syndromic uterovaginal malformation -MONDO:0008636 double uterus-hemivagina-renal agenesis syndrome MONDO:0019721 Orphanet:3411 Orphanet:93547 obsolete syndromic renal or urinary tract malformation -MONDO:0008636 double uterus-hemivagina-renal agenesis syndrome MONDO:8000032 Orphanet:3411 Orphanet:377789 obsolete malformation syndrome -MONDO:0008637 bifid uvula MONDO:8000030 Orphanet:99771 Orphanet:377791 obsolete morphological anomaly -MONDO:0008641 retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations MONDO:0015939 Orphanet:247691 Orphanet:182228 obsolete systemic autoimmune disease -MONDO:0008641 retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations MONDO:0018782 Orphanet:247691 Orphanet:477647 obsolete type 1 interferonopathy -MONDO:0008641 retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations MONDO:0018787 Orphanet:247691 Orphanet:477754 obsolete genetic cerebral small vessel disease -MONDO:0008642 VACTERL/vater association MONDO:0015208 Orphanet:887 Orphanet:108961 obsolete syndromic esophageal malformation -MONDO:0008642 VACTERL/vater association MONDO:0015246 Orphanet:887 Orphanet:117573 obsolete syndromic anorectal malformation -MONDO:0008642 VACTERL/vater association MONDO:0019721 Orphanet:887 Orphanet:93547 obsolete syndromic renal or urinary tract malformation -MONDO:0008642 VACTERL/vater association MONDO:8000032 Orphanet:887 Orphanet:377789 obsolete malformation syndrome -MONDO:0008645 ventricular extrasystoles with syncopal episodes-perodactyly-robin sequence syndrome MONDO:0015335 Orphanet:3201 Orphanet:139039 obsolete Mendelian syndromes with cleft lip/palate -MONDO:0008645 ventricular extrasystoles with syncopal episodes-perodactyly-robin sequence syndrome MONDO:0043008 Orphanet:3201 Orphanet:330206 obsolete genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability -MONDO:0008645 ventricular extrasystoles with syncopal episodes-perodactyly-robin sequence syndrome MONDO:8000032 Orphanet:3201 Orphanet:377789 obsolete malformation syndrome -MONDO:0008650 posterior fusion of lumbosacral vertebrae-blepharoptosis syndrome MONDO:0043008 Orphanet:2064 Orphanet:330206 obsolete genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability -MONDO:0008650 posterior fusion of lumbosacral vertebrae-blepharoptosis syndrome MONDO:8000032 Orphanet:2064 Orphanet:377789 obsolete malformation syndrome -MONDO:0008652 congenital vertical talus MONDO:8000030 Orphanet:178382 Orphanet:377791 obsolete morphological anomaly -MONDO:0008662 autosomal dominant vitreoretinochoroidopathy MONDO:0034943 Orphanet:3086 Orphanet:519304 obsolete isolated vitreoretinopathy -MONDO:0008663 snowflake vitreoretinal degeneration MONDO:0034943 Orphanet:91496 Orphanet:519304 obsolete isolated vitreoretinopathy -MONDO:0008663 snowflake vitreoretinal degeneration MONDO:0034953 Orphanet:91496 Orphanet:519325 obsolete syndromic inherited retinal disorder -MONDO:0008665 ptosis-vocal cord paralysis syndrome MONDO:0020169 Orphanet:2997 Orphanet:98578 obsolete rare disorder with ptosis -MONDO:0008665 ptosis-vocal cord paralysis syndrome MONDO:8000032 Orphanet:2997 Orphanet:377789 obsolete malformation syndrome -MONDO:0008667 von Hippel-Lindau disease MONDO:0015953 Orphanet:892 Orphanet:183503 obsolete genetic central nervous system and retinal vascular disease -MONDO:0008667 von Hippel-Lindau disease MONDO:0016756 Orphanet:892 Orphanet:252190 obsolete inherited nervous system cancer-predisposing syndrome -MONDO:0008667 von Hippel-Lindau disease MONDO:0017891 Orphanet:892 Orphanet:319328 obsolete inherited renal cancer-predisposing syndrome -MONDO:0008667 von Hippel-Lindau disease MONDO:0019110 Orphanet:892 Orphanet:71281 obsolete rare central nervous system or retinal vascular disease -MONDO:0008667 von Hippel-Lindau disease MONDO:0020063 Orphanet:892 Orphanet:98196 obsolete malformation syndrome with hamartosis -MONDO:0008667 von Hippel-Lindau disease MONDO:0020222 Orphanet:892 Orphanet:98638 obsolete rare disease with glaucoma as a major feature -MONDO:0008667 von Hippel-Lindau disease MONDO:0022409 Orphanet:892 Orphanet:156162 obsolete nephropathy-associated ciliopathy -MONDO:0008668 von Willebrand disease 1 MONDO:8000031 Orphanet:166078 Orphanet:557494 obsolete subtype of a disorder -MONDO:0008670 Waardenburg syndrome type 1 MONDO:8000031 Orphanet:894 Orphanet:557494 obsolete subtype of a disorder -MONDO:0008673 acrofacial dysostosis, Weyers type MONDO:0015334 Orphanet:952 Orphanet:139036 obsolete branchial arch or oral-acral syndrome -MONDO:0008673 acrofacial dysostosis, Weyers type MONDO:0026189 Orphanet:952 Orphanet:183576 obsolete genetic branchial arch or oral-acral syndrome -MONDO:0008673 acrofacial dysostosis, Weyers type MONDO:0043008 Orphanet:952 Orphanet:330206 obsolete genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability -MONDO:0008673 acrofacial dysostosis, Weyers type MONDO:8000032 Orphanet:952 Orphanet:377789 obsolete malformation syndrome -MONDO:0008675 Freeman-Sheldon syndrome MONDO:0043008 Orphanet:2053 Orphanet:330206 obsolete genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability -MONDO:0008675 Freeman-Sheldon syndrome MONDO:8000032 Orphanet:2053 Orphanet:377789 obsolete malformation syndrome -MONDO:0008678 Williams syndrome MONDO:0015329 Orphanet:904 Orphanet:139021 obsolete malformation syndrome with short stature -MONDO:0008678 Williams syndrome MONDO:0015506 Orphanet:904 Orphanet:156532 obsolete rare syndrome with cardiac malformations -MONDO:0008678 Williams syndrome MONDO:0015512 Orphanet:904 Orphanet:156629 obsolete genetic hypertension -MONDO:0008678 Williams syndrome MONDO:0017656 Orphanet:904 Orphanet:306765 obsolete motor stereotypies -MONDO:0008678 Williams syndrome MONDO:0020016 Orphanet:904 Orphanet:98033 obsolete rare neurologic disease with psychiatric involvement -MONDO:0008678 Williams syndrome MONDO:0020165 Orphanet:904 Orphanet:98574 obsolete syndromic epicanthus -MONDO:0008678 Williams syndrome MONDO:0026187 Orphanet:904 Orphanet:183570 obsolete genetic malformation syndrome with short stature -MONDO:0008678 Williams syndrome MONDO:0035863 Orphanet:904 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0008678 Williams syndrome MONDO:8000032 Orphanet:904 Orphanet:377789 obsolete malformation syndrome -MONDO:0008681 WAGR syndrome MONDO:0015945 Orphanet:893 Orphanet:183422 obsolete polymalformative genetic syndrome with increased risk of developing cancer -MONDO:0008681 WAGR syndrome MONDO:0016565 Orphanet:893 Orphanet:240371 obsolete syndromic genetic obesity -MONDO:0008681 WAGR syndrome MONDO:0017891 Orphanet:893 Orphanet:319328 obsolete inherited renal cancer-predisposing syndrome -MONDO:0008681 WAGR syndrome MONDO:0017978 Orphanet:893 Orphanet:325638 obsolete syndrome with disorder of sex development of gynecological interest -MONDO:0008681 WAGR syndrome MONDO:0019721 Orphanet:893 Orphanet:93547 obsolete syndromic renal or urinary tract malformation -MONDO:0008681 WAGR syndrome MONDO:0020042 Orphanet:893 Orphanet:98087 obsolete syndrome with 46,XY disorder of sex development -MONDO:0008681 WAGR syndrome MONDO:0020148 Orphanet:893 Orphanet:98557 obsolete syndromic aniridia -MONDO:0008681 WAGR syndrome MONDO:0020222 Orphanet:893 Orphanet:98638 obsolete rare disease with glaucoma as a major feature -MONDO:0008681 WAGR syndrome MONDO:0020225 Orphanet:893 Orphanet:98641 obsolete syndromic cataract -MONDO:0008681 WAGR syndrome MONDO:0035863 Orphanet:893 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0008681 WAGR syndrome MONDO:8000032 Orphanet:893 Orphanet:377789 obsolete malformation syndrome -MONDO:0008682 Denys-Drash syndrome MONDO:0015945 Orphanet:220 Orphanet:183422 obsolete polymalformative genetic syndrome with increased risk of developing cancer -MONDO:0008682 Denys-Drash syndrome MONDO:0017978 Orphanet:220 Orphanet:325638 obsolete syndrome with disorder of sex development of gynecological interest -MONDO:0008682 Denys-Drash syndrome MONDO:0020042 Orphanet:220 Orphanet:98087 obsolete syndrome with 46,XY disorder of sex development -MONDO:0008684 Wolf-Hirschhorn syndrome MONDO:0015216 Orphanet:280 Orphanet:108979 obsolete syndromic diaphragmatic or abdominal wall malformation -MONDO:0008684 Wolf-Hirschhorn syndrome MONDO:0015652 Orphanet:280 Orphanet:166469 obsolete chromosomal anomaly with epilepsy as a major feature -MONDO:0008684 Wolf-Hirschhorn syndrome MONDO:0015880 Orphanet:280 Orphanet:180779 obsolete syndromic diaphragmatic or thoracic malformation -MONDO:0008684 Wolf-Hirschhorn syndrome MONDO:0019589 Orphanet:280 Orphanet:90642 obsolete syndromic genetic hearing loss -MONDO:0008684 Wolf-Hirschhorn syndrome MONDO:0020226 Orphanet:280 Orphanet:98642 obsolete chromosomal anomaly with cataract -MONDO:0008684 Wolf-Hirschhorn syndrome MONDO:0035863 Orphanet:280 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0008684 Wolf-Hirschhorn syndrome MONDO:8000032 Orphanet:280 Orphanet:377789 obsolete malformation syndrome -MONDO:0008686 isolated familial wooly hair disorder MONDO:0019281 Orphanet:170 Orphanet:79366 obsolete isolated genetic hair shaft abnormality -MONDO:0008688 WT limb-blood syndrome MONDO:0800095 Orphanet:3466 Orphanet:93459 obsolete syndrome with synostosis or other joint formation defect -MONDO:0008692 abetalipoproteinemia MONDO:0015180 Orphanet:14 Orphanet:104005 obsolete intestinal disease due to fat malabsorption -MONDO:0008692 abetalipoproteinemia MONDO:0016133 Orphanet:14 Orphanet:207018 obsolete rare hereditary metabolic disease with peripheral neuropathy -MONDO:0008692 abetalipoproteinemia MONDO:0019058 Orphanet:14 Orphanet:68385 obsolete neurometabolic disease -MONDO:0008692 abetalipoproteinemia MONDO:0020103 Orphanet:14 Orphanet:98366 obsolete constitutional hemolytic anemia due to acanthocytosis -MONDO:0008692 abetalipoproteinemia MONDO:0020228 Orphanet:14 Orphanet:98644 obsolete cataract associated with a metabolic disease -MONDO:0008692 abetalipoproteinemia MONDO:0020240 Orphanet:14 Orphanet:98661 obsolete syndromic retinitis pigmentosa -MONDO:0008692 abetalipoproteinemia MONDO:0031698 Orphanet:14 Orphanet:363306 obsolete genetic intestinal disease due to fat malabsorption -MONDO:0008693 ablepharon macrostomia syndrome MONDO:0015335 Orphanet:920 Orphanet:139039 obsolete Mendelian syndromes with cleft lip/palate -MONDO:0008693 ablepharon macrostomia syndrome MONDO:0020154 Orphanet:920 Orphanet:98563 obsolete microblepharon-ablephara syndrome -MONDO:0008693 ablepharon macrostomia syndrome MONDO:0035863 Orphanet:920 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0008693 ablepharon macrostomia syndrome MONDO:8000032 Orphanet:920 Orphanet:377789 obsolete malformation syndrome -MONDO:0008694 pseudoprogeria syndrome MONDO:0031689 Orphanet:2985 Orphanet:363245 obsolete genetic progeroid syndrome -MONDO:0008694 pseudoprogeria syndrome MONDO:0035863 Orphanet:2985 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0008694 pseudoprogeria syndrome MONDO:8000032 Orphanet:2985 Orphanet:377789 obsolete malformation syndrome -MONDO:0008695 chorea-acanthocytosis MONDO:0016133 Orphanet:2388 Orphanet:207018 obsolete rare hereditary metabolic disease with peripheral neuropathy -MONDO:0008695 chorea-acanthocytosis MONDO:0016406 Orphanet:2388 Orphanet:225713 obsolete other metabolic disease with epilepsy -MONDO:0008695 chorea-acanthocytosis MONDO:0019058 Orphanet:2388 Orphanet:68385 obsolete neurometabolic disease -MONDO:0008695 chorea-acanthocytosis MONDO:0019274 Orphanet:2388 Orphanet:79359 obsolete other epidermal disorder -MONDO:0008695 chorea-acanthocytosis MONDO:0019275 Orphanet:2388 Orphanet:79360 obsolete other genetic epidermal disease -MONDO:0008696 acanthosis nigricans-insulin resistance-muscle cramps-acral enlargement syndrome MONDO:0015885 Orphanet:90301 Orphanet:181368 obsolete rare insulin-resistance syndrome -MONDO:0008696 acanthosis nigricans-insulin resistance-muscle cramps-acral enlargement syndrome MONDO:0019274 Orphanet:90301 Orphanet:79359 obsolete other epidermal disorder -MONDO:0008696 acanthosis nigricans-insulin resistance-muscle cramps-acral enlargement syndrome MONDO:0019275 Orphanet:90301 Orphanet:79360 obsolete other genetic epidermal disease -MONDO:0008699 achalasia microcephaly syndrome MONDO:0015208 Orphanet:929 Orphanet:108961 obsolete syndromic esophageal malformation -MONDO:0008699 achalasia microcephaly syndrome MONDO:0031952 Orphanet:929 Orphanet:371445 obsolete genetic syndromic esophageal malformation -MONDO:0008699 achalasia microcephaly syndrome MONDO:8000032 Orphanet:929 Orphanet:377789 obsolete malformation syndrome -MONDO:0008700 acheiropody MONDO:0034668 Orphanet:931 Orphanet:498461 obsolete terminal transverse limb defect -MONDO:0008700 acheiropody MONDO:8000030 Orphanet:931 Orphanet:377791 obsolete morphological anomaly -MONDO:0008701 achondrogenesis type IA MONDO:8000031 Orphanet:93299 Orphanet:557494 obsolete subtype of a disorder -MONDO:0008702 achondrogenesis type II MONDO:8000031 Orphanet:93296 Orphanet:557494 obsolete subtype of a disorder -MONDO:0008703 acromesomelic dysplasia 2A MONDO:8000032 Orphanet:2098 Orphanet:377789 obsolete malformation syndrome -MONDO:0008706 Ackerman syndrome MONDO:0015336 Orphanet:2561 Orphanet:139042 obsolete malformation syndrome with odontal and/or periodontal component -MONDO:0008706 Ackerman syndrome MONDO:0026190 Orphanet:2561 Orphanet:183580 obsolete genetic malformation syndrome with odontal and/or periodontal component -MONDO:0008706 Ackerman syndrome MONDO:0043008 Orphanet:2561 Orphanet:330206 obsolete genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability -MONDO:0008706 Ackerman syndrome MONDO:8000032 Orphanet:2561 Orphanet:377789 obsolete malformation syndrome -MONDO:0008707 acro-renal-mandibular syndrome MONDO:0043008 Orphanet:958 Orphanet:330206 obsolete genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability -MONDO:0008707 acro-renal-mandibular syndrome MONDO:8000032 Orphanet:958 Orphanet:377789 obsolete malformation syndrome -MONDO:0008708 acrocallosal syndrome MONDO:0016055 Orphanet:36 Orphanet:199639 obsolete syndrome with corpus callosum agenesis /dysgenesis as a major feature -MONDO:0008708 acrocallosal syndrome MONDO:0017122 Orphanet:36 Orphanet:269573 obsolete genetic syndrome with corpus callosum agenesis/dysgenesis as a major feature -MONDO:0008708 acrocallosal syndrome MONDO:0017434 Orphanet:36 Orphanet:294959 obsolete syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy -MONDO:0008708 acrocallosal syndrome MONDO:0035863 Orphanet:36 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0008708 acrocallosal syndrome MONDO:8000032 Orphanet:36 Orphanet:377789 obsolete malformation syndrome -MONDO:0008709 acrocephalopolydactyly MONDO:8000032 Orphanet:221054 Orphanet:377789 obsolete malformation syndrome -MONDO:0008711 Goodman syndrome MONDO:0043008 Orphanet:65798 Orphanet:330206 obsolete genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability -MONDO:0008711 Goodman syndrome MONDO:8000032 Orphanet:65798 Orphanet:377789 obsolete malformation syndrome -MONDO:0008712 acrocraniofacial dysostosis MONDO:0043008 Orphanet:949 Orphanet:330206 obsolete genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability -MONDO:0008712 acrocraniofacial dysostosis MONDO:8000032 Orphanet:949 Orphanet:377789 obsolete malformation syndrome -MONDO:0008713 acrodermatitis enteropathica MONDO:0015180 Orphanet:37 Orphanet:104005 obsolete intestinal disease due to fat malabsorption -MONDO:0008713 acrodermatitis enteropathica MONDO:0015331 Orphanet:37 Orphanet:139027 obsolete malformation syndrome with skin/mucosae involvement -MONDO:0008713 acrodermatitis enteropathica MONDO:0019252 Orphanet:37 Orphanet:79217 obsolete other metabolic disease with skin involvement -MONDO:0008713 acrodermatitis enteropathica MONDO:0031698 Orphanet:37 Orphanet:363306 obsolete genetic intestinal disease due to fat malabsorption -MONDO:0008714 acrofacial dysostosis Rodriguez type MONDO:0015334 Orphanet:1788 Orphanet:139036 obsolete branchial arch or oral-acral syndrome -MONDO:0008714 acrofacial dysostosis Rodriguez type MONDO:0026189 Orphanet:1788 Orphanet:183576 obsolete genetic branchial arch or oral-acral syndrome -MONDO:0008714 acrofacial dysostosis Rodriguez type MONDO:0035863 Orphanet:1788 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0008714 acrofacial dysostosis Rodriguez type MONDO:8000032 Orphanet:1788 Orphanet:377789 obsolete malformation syndrome -MONDO:0008715 acrofrontofacionasal dysostosis MONDO:8000032 Orphanet:1784 Orphanet:377789 obsolete malformation syndrome -MONDO:0008716 acrogeria MONDO:0035862 Orphanet:2500 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome -MONDO:0008716 acrogeria MONDO:8000032 Orphanet:2500 Orphanet:377789 obsolete malformation syndrome -MONDO:0008717 acromesomelic dysplasia 2C, Hunter-Thompson type MONDO:8000032 Orphanet:968 Orphanet:377789 obsolete malformation syndrome -MONDO:0008718 Morvan syndrome MONDO:0015657 Orphanet:83467 Orphanet:166484 obsolete inflammatory and autoimmune disease with epilepsy -MONDO:0008718 Morvan syndrome MONDO:0016375 Orphanet:83467 Orphanet:221114 obsolete acquired peripheral movement disorder -MONDO:0008718 Morvan syndrome MONDO:0038268 Orphanet:83467 Orphanet:98750 obsolete autoimmune neurological channelopathy -MONDO:0008722 short chain acyl-CoA dehydrogenase deficiency MONDO:0016117 Orphanet:26792 Orphanet:206953 obsolete muscular lipidosis -MONDO:0008723 very long chain acyl-CoA dehydrogenase deficiency MONDO:0016117 Orphanet:26793 Orphanet:206953 obsolete muscular lipidosis -MONDO:0008723 very long chain acyl-CoA dehydrogenase deficiency MONDO:0016328 Orphanet:26793 Orphanet:217591 obsolete fatty acid oxidation and ketogenesis disorder with hypertrophic cardiomyopathy -MONDO:0008724 adducted thumbs-arthrogryposis syndrome, Christian type MONDO:0015501 Orphanet:2952 Orphanet:156237 obsolete syndrome or malformation associated with head and neck malformations -MONDO:0008724 adducted thumbs-arthrogryposis syndrome, Christian type MONDO:8000032 Orphanet:2952 Orphanet:377789 obsolete malformation syndrome -MONDO:0008725 congenital lipoid adrenal hyperplasia due to STAR deficency MONDO:0018400 Orphanet:90790 Orphanet:399849 obsolete rare female infertility due to an adrenal disorder -MONDO:0008725 congenital lipoid adrenal hyperplasia due to STAR deficency MONDO:0018412 Orphanet:90790 Orphanet:400018 obsolete rare female infertility due to adrenal disorder of genetic origin -MONDO:0008725 congenital lipoid adrenal hyperplasia due to STAR deficency MONDO:0019595 Orphanet:90790 Orphanet:90786 obsolete 46,XY disorder of sex development due to adrenal and testicular steroidogenesis defect -MONDO:0008725 congenital lipoid adrenal hyperplasia due to STAR deficency MONDO:0034443 Orphanet:90790 Orphanet:485382 obsolete genetic non-acquired premature ovarian failure -MONDO:0008726 Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis MONDO:0019593 Orphanet:63269 Orphanet:90776 obsolete 46,XX disorder of sex development induced by fetal androgens excess -MONDO:0008726 Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis MONDO:0019595 Orphanet:63269 Orphanet:90786 obsolete 46,XY disorder of sex development due to adrenal and testicular steroidogenesis defect -MONDO:0008726 Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis MONDO:8000031 Orphanet:63269 Orphanet:557494 obsolete subtype of a disorder -MONDO:0008727 congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency MONDO:0019593 Orphanet:90791 Orphanet:90776 obsolete 46,XX disorder of sex development induced by fetal androgens excess -MONDO:0008727 congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency MONDO:0019595 Orphanet:90791 Orphanet:90786 obsolete 46,XY disorder of sex development due to adrenal and testicular steroidogenesis defect -MONDO:0008728 classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency MONDO:0018387 Orphanet:90794 Orphanet:399584 obsolete rare male infertility due to adrenal disorder -MONDO:0008728 classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency MONDO:0018400 Orphanet:90794 Orphanet:399849 obsolete rare female infertility due to an adrenal disorder -MONDO:0008728 classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency MONDO:0018406 Orphanet:90794 Orphanet:399994 obsolete rare male infertility due to adrenal disorder of genetic origin -MONDO:0008728 classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency MONDO:0018412 Orphanet:90794 Orphanet:400018 obsolete rare female infertility due to adrenal disorder of genetic origin -MONDO:0008728 classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency MONDO:0019593 Orphanet:90794 Orphanet:90776 obsolete 46,XX disorder of sex development induced by fetal androgens excess -MONDO:0008729 congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency MONDO:0019593 Orphanet:90795 Orphanet:90776 obsolete 46,XX disorder of sex development induced by fetal androgens excess -MONDO:0008730 congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency MONDO:0018387 Orphanet:90793 Orphanet:399584 obsolete rare male infertility due to adrenal disorder -MONDO:0008730 congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency MONDO:0018400 Orphanet:90793 Orphanet:399849 obsolete rare female infertility due to an adrenal disorder -MONDO:0008730 congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency MONDO:0018406 Orphanet:90793 Orphanet:399994 obsolete rare male infertility due to adrenal disorder of genetic origin -MONDO:0008730 congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency MONDO:0018412 Orphanet:90793 Orphanet:400018 obsolete rare female infertility due to adrenal disorder of genetic origin -MONDO:0008730 congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency MONDO:0019595 Orphanet:90793 Orphanet:90786 obsolete 46,XY disorder of sex development due to adrenal and testicular steroidogenesis defect -MONDO:0008730 congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency MONDO:0034443 Orphanet:90793 Orphanet:485382 obsolete genetic non-acquired premature ovarian failure -MONDO:0008731 familial adrenal hypoplasia with absent pituitary luteinizing hormone MONDO:0015891 Orphanet:95700 Orphanet:181390 obsolete hypogonadotropic hypogonadism associated with other endocrinopathies -MONDO:0008731 familial adrenal hypoplasia with absent pituitary luteinizing hormone MONDO:0020042 Orphanet:95700 Orphanet:98087 obsolete syndrome with 46,XY disorder of sex development -MONDO:0008731 familial adrenal hypoplasia with absent pituitary luteinizing hormone MONDO:0035683 Orphanet:95700 Orphanet:595337 obsolete adrenal hypoplasia congenita -MONDO:0008733 familial glucocorticoid deficiency MONDO:0020999 Orphanet:361 Orphanet:101960 obsolete genetic chronic primary adrenal insufficiency -MONDO:0008733 familial glucocorticoid deficiency MONDO:0035862 Orphanet:361 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome -MONDO:0008737 congenital afibrinogenemia MONDO:8000031 Orphanet:98880 Orphanet:557494 obsolete subtype of a disorder -MONDO:0008740 agnathia-otocephaly complex MONDO:0035863 Orphanet:990 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0008740 agnathia-otocephaly complex MONDO:8000032 Orphanet:990 Orphanet:377789 obsolete malformation syndrome -MONDO:0008741 PAGOD syndrome MONDO:0015846 Orphanet:991 Orphanet:180148 obsolete syndromic uterovaginal malformation -MONDO:0008741 PAGOD syndrome MONDO:0015880 Orphanet:991 Orphanet:180779 obsolete syndromic diaphragmatic or thoracic malformation -MONDO:0008741 PAGOD syndrome MONDO:0017965 Orphanet:991 Orphanet:325109 obsolete syndrome with 46,XX disorder of sex development -MONDO:0008741 PAGOD syndrome MONDO:0017978 Orphanet:991 Orphanet:325638 obsolete syndrome with disorder of sex development of gynecological interest -MONDO:0008741 PAGOD syndrome MONDO:0020042 Orphanet:991 Orphanet:98087 obsolete syndrome with 46,XY disorder of sex development -MONDO:0008741 PAGOD syndrome MONDO:0043008 Orphanet:991 Orphanet:330206 obsolete genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability -MONDO:0008741 PAGOD syndrome MONDO:8000032 Orphanet:991 Orphanet:377789 obsolete malformation syndrome -MONDO:0008743 Stimmler syndrome MONDO:0035863 Orphanet:3199 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0008743 Stimmler syndrome MONDO:8000032 Orphanet:3199 Orphanet:377789 obsolete malformation syndrome -MONDO:0008744 alar cartilages hypoplasia-coloboma-telecanthus syndrome MONDO:0043008 Orphanet:2007 Orphanet:330206 obsolete genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability -MONDO:0008744 alar cartilages hypoplasia-coloboma-telecanthus syndrome MONDO:8000032 Orphanet:2007 Orphanet:377789 obsolete malformation syndrome -MONDO:0008745 oculocutaneous albinism type 1A MONDO:8000031 Orphanet:79431 Orphanet:557494 obsolete subtype of a disorder -MONDO:0008749 pseudohypoparathyroidism type 2 MONDO:0018700 Orphanet:94090 Orphanet:457062 obsolete pseudohypoparathyroidism without Albright hereditary osteodystrophy -MONDO:0008750 microcephaly-albinism-digital anomalies syndrome MONDO:0043008 Orphanet:2513 Orphanet:330206 obsolete genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability -MONDO:0008750 microcephaly-albinism-digital anomalies syndrome MONDO:8000032 Orphanet:2513 Orphanet:377789 obsolete malformation syndrome -MONDO:0008752 Alexander disease MONDO:0015918 Orphanet:58 Orphanet:182070 obsolete rare neurodegenerative disease -MONDO:0008753 alkaptonuria MONDO:0019252 Orphanet:56 Orphanet:79217 obsolete other metabolic disease with skin involvement -MONDO:0008754 alopecia - contractures - dwarfism - intellectual disability syndrome MONDO:0035863 Orphanet:1005 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0008754 alopecia - contractures - dwarfism - intellectual disability syndrome MONDO:8000032 Orphanet:1005 Orphanet:377789 obsolete malformation syndrome -MONDO:0008755 Moynahan syndrome MONDO:0035862 Orphanet:2574 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome -MONDO:0008755 Moynahan syndrome MONDO:8000032 Orphanet:2574 Orphanet:377789 obsolete malformation syndrome -MONDO:0008756 alopecia - intellectual disability syndrome MONDO:0021034 Orphanet:2850 Orphanet:481771 obsolete hereditary alopecia -MONDO:0008756 alopecia - intellectual disability syndrome MONDO:0035862 Orphanet:2850 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome -MONDO:0008757 alopecia universalis congenita MONDO:0021034 Orphanet:701 Orphanet:481771 obsolete hereditary alopecia -MONDO:0008758 mitochondrial DNA depletion syndrome 4a MONDO:0015918 Orphanet:726 Orphanet:182070 obsolete rare neurodegenerative disease -MONDO:0008758 mitochondrial DNA depletion syndrome 4a MONDO:0016402 Orphanet:726 Orphanet:225700 obsolete mitochondrial disease with epilepsy -MONDO:0008758 mitochondrial DNA depletion syndrome 4a MONDO:0016403 Orphanet:726 Orphanet:225703 obsolete mitochondrial disease with peripheral neuropathy -MONDO:0008758 mitochondrial DNA depletion syndrome 4a MONDO:0019058 Orphanet:726 Orphanet:68385 obsolete neurometabolic disease -MONDO:0008758 mitochondrial DNA depletion syndrome 4a MONDO:0035862 Orphanet:726 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome -MONDO:0008759 oxoglutaricaciduria MONDO:0016402 Orphanet:31 Orphanet:225700 obsolete mitochondrial disease with epilepsy -MONDO:0008759 oxoglutaricaciduria MONDO:0016403 Orphanet:31 Orphanet:225703 obsolete mitochondrial disease with peripheral neuropathy -MONDO:0008759 oxoglutaricaciduria MONDO:0019058 Orphanet:31 Orphanet:68385 obsolete neurometabolic disease -MONDO:0008760 beta-ketothiolase deficiency MONDO:0035862 Orphanet:134 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome -MONDO:0008762 autosomal recessive Alport syndrome MONDO:8000031 Orphanet:88919 Orphanet:557494 obsolete subtype of a disorder -MONDO:0008763 Alstrom syndrome MONDO:0015887 Orphanet:64 Orphanet:181376 obsolete rare diabetes mellitus type 2 -MONDO:0008763 Alstrom syndrome MONDO:0016337 Orphanet:64 Orphanet:217619 obsolete syndrome associated with dilated cardiomyopathy -MONDO:0008763 Alstrom syndrome MONDO:0016565 Orphanet:64 Orphanet:240371 obsolete syndromic genetic obesity -MONDO:0008763 Alstrom syndrome MONDO:0019589 Orphanet:64 Orphanet:90642 obsolete syndromic genetic hearing loss -MONDO:0008763 Alstrom syndrome MONDO:0019744 Orphanet:64 Orphanet:93603 obsolete rare renal tubular disease -MONDO:0008763 Alstrom syndrome MONDO:0020225 Orphanet:64 Orphanet:98641 obsolete syndromic cataract -MONDO:0008763 Alstrom syndrome MONDO:0022409 Orphanet:64 Orphanet:156162 obsolete nephropathy-associated ciliopathy -MONDO:0008763 Alstrom syndrome MONDO:0034953 Orphanet:64 Orphanet:519325 obsolete syndromic inherited retinal disorder -MONDO:0008763 Alstrom syndrome MONDO:0035862 Orphanet:64 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome -MONDO:0008766 amaurosis-hypertrichosis syndrome MONDO:0034953 Orphanet:1021 Orphanet:519325 obsolete syndromic inherited retinal disorder -MONDO:0008767 neuronal ceroid lipofuscinosis 3 MONDO:8000031 Orphanet:228346 Orphanet:557494 obsolete subtype of a disorder -MONDO:0008768 ceroid lipofuscinosis, neuronal, 6B (Kufs type) MONDO:8000031 Orphanet:228340 Orphanet:557494 obsolete subtype of a disorder -MONDO:0008769 neuronal ceroid lipofuscinosis 2 MONDO:8000031 Orphanet:228349 Orphanet:557494 obsolete subtype of a disorder -MONDO:0008771 amelogenesis imperfecta type 1G MONDO:0015336 Orphanet:1031 Orphanet:139042 obsolete malformation syndrome with odontal and/or periodontal component -MONDO:0008771 amelogenesis imperfecta type 1G MONDO:0019743 Orphanet:1031 Orphanet:93593 obsolete nephropathy secondary to a storage or other metabolic disease -MONDO:0008771 amelogenesis imperfecta type 1G MONDO:0026190 Orphanet:1031 Orphanet:183580 obsolete genetic malformation syndrome with odontal and/or periodontal component -MONDO:0008771 amelogenesis imperfecta type 1G MONDO:8000032 Orphanet:1031 Orphanet:377789 obsolete malformation syndrome -MONDO:0008783 Tangier disease MONDO:0016133 Orphanet:31150 Orphanet:207018 obsolete rare hereditary metabolic disease with peripheral neuropathy -MONDO:0008783 Tangier disease MONDO:0016134 Orphanet:31150 Orphanet:207021 obsolete rare hereditary systemic disease with peripheral neuropathy -MONDO:0008783 Tangier disease MONDO:0019058 Orphanet:31150 Orphanet:68385 obsolete neurometabolic disease -MONDO:0008787 microcytic anemia with liver iron overload MONDO:0020098 Orphanet:83642 Orphanet:98360 obsolete constitutional anemia due to iron metabolism disorder -MONDO:0008788 IRIDA syndrome MONDO:0020098 Orphanet:209981 Orphanet:98360 obsolete constitutional anemia due to iron metabolism disorder -MONDO:0008791 anencephaly 1 MONDO:0017085 Orphanet:1048 Orphanet:268843 obsolete malformation of the neurenteric canal, spinal cord and column -MONDO:0008791 anencephaly 1 MONDO:8000030 Orphanet:1048 Orphanet:377791 obsolete morphological anomaly -MONDO:0008792 familial angiolipomatosis MONDO:0015949 Orphanet:199279 Orphanet:183484 obsolete rare genetic subcutaneous tissue disorder -MONDO:0008795 aniridia-cerebellar ataxia-intellectual disability syndrome MONDO:0020148 Orphanet:1065 Orphanet:98557 obsolete syndromic aniridia -MONDO:0008795 aniridia-cerebellar ataxia-intellectual disability syndrome MONDO:0035862 Orphanet:1065 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome -MONDO:0008795 aniridia-cerebellar ataxia-intellectual disability syndrome MONDO:8000032 Orphanet:1065 Orphanet:377789 obsolete malformation syndrome -MONDO:0008796 aniridia-renal agenesis-psychomotor retardation syndrome MONDO:0019721 Orphanet:1064 Orphanet:93547 obsolete syndromic renal or urinary tract malformation -MONDO:0008796 aniridia-renal agenesis-psychomotor retardation syndrome MONDO:0020148 Orphanet:1064 Orphanet:98557 obsolete syndromic aniridia -MONDO:0008796 aniridia-renal agenesis-psychomotor retardation syndrome MONDO:0020222 Orphanet:1064 Orphanet:98638 obsolete rare disease with glaucoma as a major feature -MONDO:0008796 aniridia-renal agenesis-psychomotor retardation syndrome MONDO:0020253 Orphanet:1064 Orphanet:98683 obsolete syndrome with a symptomatic strabismus -MONDO:0008796 aniridia-renal agenesis-psychomotor retardation syndrome MONDO:0035863 Orphanet:1064 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0008796 aniridia-renal agenesis-psychomotor retardation syndrome MONDO:8000032 Orphanet:1064 Orphanet:377789 obsolete malformation syndrome -MONDO:0008797 anodontia MONDO:0015603 Orphanet:99797 Orphanet:164001 obsolete rare odontal or periodontal disorder -MONDO:0008797 anodontia MONDO:0018488 Orphanet:99797 Orphanet:420755 obsolete rare genetic odontal or periodontal disorder -MONDO:0008797 anodontia MONDO:8000030 Orphanet:99797 Orphanet:377791 obsolete morphological anomaly -MONDO:0008798 nonsyndromic congenital nail disorder 4 MONDO:8000031 Orphanet:94150 Orphanet:557494 obsolete subtype of a disorder -MONDO:0008799 anophthalmia/microphthalmia-esophageal atresia syndrome MONDO:0015208 Orphanet:77298 Orphanet:108961 obsolete syndromic esophageal malformation -MONDO:0008799 anophthalmia/microphthalmia-esophageal atresia syndrome MONDO:0019827 Orphanet:77298 Orphanet:95495 obsolete disease associated with non-acquired combined pituitary hormone deficiency -MONDO:0008799 anophthalmia/microphthalmia-esophageal atresia syndrome MONDO:0031952 Orphanet:77298 Orphanet:371445 obsolete genetic syndromic esophageal malformation -MONDO:0008799 anophthalmia/microphthalmia-esophageal atresia syndrome MONDO:0035863 Orphanet:77298 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0008799 anophthalmia/microphthalmia-esophageal atresia syndrome MONDO:8000032 Orphanet:77298 Orphanet:377789 obsolete malformation syndrome -MONDO:0008800 microphthalmia with limb anomalies MONDO:0035863 Orphanet:1106 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0008800 microphthalmia with limb anomalies MONDO:8000032 Orphanet:1106 Orphanet:377789 obsolete malformation syndrome -MONDO:0008803 Antley-Bixler syndrome MONDO:0035863 Orphanet:83 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0008803 Antley-Bixler syndrome MONDO:8000032 Orphanet:83 Orphanet:377789 obsolete malformation syndrome -MONDO:0008806 Aphalangy-hemivertebrae-urogenital-intestinal dysgenesis syndrome MONDO:0017432 Orphanet:1112 Orphanet:294955 obsolete syndrome with limb reduction defects -MONDO:0008806 Aphalangy-hemivertebrae-urogenital-intestinal dysgenesis syndrome MONDO:8000032 Orphanet:1112 Orphanet:377789 obsolete malformation syndrome -MONDO:0008808 aplasia cutis congenita-intestinal lymphangiectasia syndrome MONDO:0015245 Orphanet:1116 Orphanet:117569 obsolete rare intestinal disease -MONDO:0008808 aplasia cutis congenita-intestinal lymphangiectasia syndrome MONDO:0015331 Orphanet:1116 Orphanet:139027 obsolete malformation syndrome with skin/mucosae involvement -MONDO:0008808 aplasia cutis congenita-intestinal lymphangiectasia syndrome MONDO:0015616 Orphanet:1116 Orphanet:165655 obsolete rare genetic intestinal disease -MONDO:0008808 aplasia cutis congenita-intestinal lymphangiectasia syndrome MONDO:0035470 Orphanet:1116 Orphanet:568044 obsolete primary lymphedema with systemic or visceral involvement -MONDO:0008808 aplasia cutis congenita-intestinal lymphangiectasia syndrome MONDO:0957001 Orphanet:1116 Orphanet:183481 obsolete hereditary mixed dermis disorder -MONDO:0008809 polyneuropathy-hand defect syndrome MONDO:8000032 Orphanet:2926 Orphanet:377789 obsolete malformation syndrome -MONDO:0008810 familial apolipoprotein C-II deficiency MONDO:8000031 Orphanet:309020 Orphanet:557494 obsolete subtype of a disorder -MONDO:0008811 XK aprosencephaly MONDO:0017118 Orphanet:3469 Orphanet:269523 obsolete syndrome with a cerebellar malformation as major feature -MONDO:0008811 XK aprosencephaly MONDO:8000032 Orphanet:3469 Orphanet:377789 obsolete malformation syndrome -MONDO:0008812 AREDYLD syndrome MONDO:0015888 Orphanet:1133 Orphanet:181381 obsolete other rare diabetes mellitus -MONDO:0008812 AREDYLD syndrome MONDO:0019721 Orphanet:1133 Orphanet:93547 obsolete syndromic renal or urinary tract malformation -MONDO:0008812 AREDYLD syndrome MONDO:8000032 Orphanet:1133 Orphanet:377789 obsolete malformation syndrome -MONDO:0008813 arachnoid cyst MONDO:0017104 Orphanet:2356 Orphanet:269194 obsolete central nervous system cystic malformation -MONDO:0008813 arachnoid cyst MONDO:0019834 Orphanet:2356 Orphanet:95505 obsolete pituitary hormone deficiency from meningeal origin -MONDO:0008813 arachnoid cyst MONDO:8000030 Orphanet:2356 Orphanet:377791 obsolete morphological anomaly -MONDO:0008815 argininosuccinic aciduria MONDO:0035862 Orphanet:23 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome -MONDO:0008818 arterial tortuosity syndrome MONDO:0017311 Orphanet:3342 Orphanet:285014 obsolete rare disease with thoracic aortic aneurysm and aortic dissection -MONDO:0008818 arterial tortuosity syndrome MONDO:8000032 Orphanet:3342 Orphanet:377789 obsolete malformation syndrome -MONDO:0008825 arthrogryposis multiplex congenita-whistling face syndrome MONDO:0015501 Orphanet:1150 Orphanet:156237 obsolete syndrome or malformation associated with head and neck malformations -MONDO:0008825 arthrogryposis multiplex congenita-whistling face syndrome MONDO:8000032 Orphanet:1150 Orphanet:377789 obsolete malformation syndrome -MONDO:0008826 arthrogryposis-hyperkeratosis syndrome, lethal form MONDO:8000032 Orphanet:1485 Orphanet:377789 obsolete malformation syndrome -MONDO:0008827 progressive pseudorheumatoid arthropathy of childhood MONDO:0800092 Orphanet:1159 Orphanet:498445 obsolete hereditary inflammatory or rheumatoid-like osteoarthropathy -MONDO:0008828 camptodactyly-arthropathy-coxa vara-pericarditis syndrome MONDO:0015940 Orphanet:2848 Orphanet:182231 obsolete rare rheumatologic disease -MONDO:0008828 camptodactyly-arthropathy-coxa vara-pericarditis syndrome MONDO:0028795 Orphanet:2848 Orphanet:271870 obsolete rare genetic systemic or rheumatologic disease -MONDO:0008829 chylous ascites MONDO:0015621 Orphanet:1160 Orphanet:165711 obsolete rare abdominal surgical disease -MONDO:0008830 aspartylglucosaminuria MONDO:0016397 Orphanet:93 Orphanet:225681 obsolete lysosomal disease with epilepsy -MONDO:0008830 aspartylglucosaminuria MONDO:0019058 Orphanet:93 Orphanet:68385 obsolete neurometabolic disease -MONDO:0008830 aspartylglucosaminuria MONDO:0035862 Orphanet:93 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome -MONDO:0008832 right atrial isomerism MONDO:0015214 Orphanet:97548 Orphanet:108973 obsolete syndromic visceral malformation -MONDO:0008832 right atrial isomerism MONDO:0017131 Orphanet:97548 Orphanet:271853 obsolete hereditary cardiac anomaly -MONDO:0008832 right atrial isomerism MONDO:8000032 Orphanet:97548 Orphanet:377789 obsolete malformation syndrome -MONDO:0008838 ataxia - deafness - intellectual disability syndrome MONDO:0019589 Orphanet:1188 Orphanet:90642 obsolete syndromic genetic hearing loss -MONDO:0008838 ataxia - deafness - intellectual disability syndrome MONDO:0020253 Orphanet:1188 Orphanet:98683 obsolete syndrome with a symptomatic strabismus -MONDO:0008838 ataxia - deafness - intellectual disability syndrome MONDO:0035862 Orphanet:1188 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome -MONDO:0008838 ataxia - deafness - intellectual disability syndrome MONDO:8000032 Orphanet:1188 Orphanet:377789 obsolete malformation syndrome -MONDO:0008840 ataxia telangiectasia MONDO:0015331 Orphanet:100 Orphanet:139027 obsolete malformation syndrome with skin/mucosae involvement -MONDO:0008840 ataxia telangiectasia MONDO:0015707 Orphanet:100 Orphanet:169346 obsolete DNA repair defect other than combined T-cell and B-cell immunodeficiencies -MONDO:0008840 ataxia telangiectasia MONDO:0015945 Orphanet:100 Orphanet:183422 obsolete polymalformative genetic syndrome with increased risk of developing cancer -MONDO:0008840 ataxia telangiectasia MONDO:0015948 Orphanet:100 Orphanet:183478 obsolete rare genetic skin vascular disorder -MONDO:0008840 ataxia telangiectasia MONDO:0016756 Orphanet:100 Orphanet:252190 obsolete inherited nervous system cancer-predisposing syndrome -MONDO:0008840 ataxia telangiectasia MONDO:0020045 Orphanet:100 Orphanet:98097 obsolete autosomal recessive cerebellar ataxia due to a DNA repair defect -MONDO:0008840 ataxia telangiectasia MONDO:0020253 Orphanet:100 Orphanet:98683 obsolete syndrome with a symptomatic strabismus -MONDO:0008840 ataxia telangiectasia MONDO:0034443 Orphanet:100 Orphanet:485382 obsolete genetic non-acquired premature ovarian failure -MONDO:0008840 ataxia telangiectasia MONDO:0034961 Orphanet:100 Orphanet:519341 obsolete rare brainstem or cerebellar disorder with ophthalmic involvement as a major feature -MONDO:0008840 ataxia telangiectasia MONDO:0035862 Orphanet:100 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome -MONDO:0008842 ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia MONDO:0020045 Orphanet:1168 Orphanet:98097 obsolete autosomal recessive cerebellar ataxia due to a DNA repair defect -MONDO:0008842 ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia MONDO:0034961 Orphanet:1168 Orphanet:519341 obsolete rare brainstem or cerebellar disorder with ophthalmic involvement as a major feature -MONDO:0008843 atherosclerosis-deafness-diabetes-epilepsy-nephropathy syndrome MONDO:0019589 Orphanet:1192 Orphanet:90642 obsolete syndromic genetic hearing loss -MONDO:0008843 atherosclerosis-deafness-diabetes-epilepsy-nephropathy syndrome MONDO:0019721 Orphanet:1192 Orphanet:93547 obsolete syndromic renal or urinary tract malformation -MONDO:0008843 atherosclerosis-deafness-diabetes-epilepsy-nephropathy syndrome MONDO:8000032 Orphanet:1192 Orphanet:377789 obsolete malformation syndrome -MONDO:0008846 atransferrinemia MONDO:0020098 Orphanet:1195 Orphanet:98360 obsolete constitutional anemia due to iron metabolism disorder -MONDO:0008847 atrichia with papular lesions MONDO:0021034 Orphanet:86819 Orphanet:481771 obsolete hereditary alopecia -MONDO:0008850 Cooper-Jabs syndrome MONDO:0035863 Orphanet:1488 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0008850 Cooper-Jabs syndrome MONDO:8000032 Orphanet:1488 Orphanet:377789 obsolete malformation syndrome -MONDO:0008853 Barber-Say syndrome MONDO:0020162 Orphanet:1231 Orphanet:98571 obsolete secondary ectropion -MONDO:0008853 Barber-Say syndrome MONDO:0043008 Orphanet:1231 Orphanet:330206 obsolete genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability -MONDO:0008853 Barber-Say syndrome MONDO:8000032 Orphanet:1231 Orphanet:377789 obsolete malformation syndrome -MONDO:0008857 Beemer-Ertbruggen syndrome MONDO:0043008 Orphanet:1237 Orphanet:330206 obsolete genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability -MONDO:0008857 Beemer-Ertbruggen syndrome MONDO:8000032 Orphanet:1237 Orphanet:377789 obsolete malformation syndrome -MONDO:0008864 Biemond syndrome type 2 MONDO:0015329 Orphanet:141333 Orphanet:139021 obsolete malformation syndrome with short stature -MONDO:0008864 Biemond syndrome type 2 MONDO:0035863 Orphanet:141333 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0008867 biliary atresia MONDO:0015213 Orphanet:30391 Orphanet:108971 obsolete non-syndromic visceral malformation -MONDO:0008867 biliary atresia MONDO:0028737 Orphanet:30391 Orphanet:498345 obsolete biliary atresia disorder -MONDO:0008867 biliary atresia MONDO:8000030 Orphanet:30391 Orphanet:377791 obsolete morphological anomaly -MONDO:0008870 bird headed-dwarfism, Montreal type MONDO:0035863 Orphanet:2617 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0008870 bird headed-dwarfism, Montreal type MONDO:8000032 Orphanet:2617 Orphanet:377789 obsolete malformation syndrome -MONDO:0008872 microcephalic osteodysplastic primordial dwarfism type II MONDO:0016565 Orphanet:2637 Orphanet:240371 obsolete syndromic genetic obesity -MONDO:0008872 microcephalic osteodysplastic primordial dwarfism type II MONDO:0017950 Orphanet:2637 Orphanet:324761 obsolete microcephalic primordial dwarfism -MONDO:0008872 microcephalic osteodysplastic primordial dwarfism type II MONDO:0018792 Orphanet:2637 Orphanet:477771 obsolete Moyamoya syndrome -MONDO:0008872 microcephalic osteodysplastic primordial dwarfism type II MONDO:0019699 Orphanet:2637 Orphanet:93440 obsolete slender bone dysplasia -MONDO:0008872 microcephalic osteodysplastic primordial dwarfism type II MONDO:8000032 Orphanet:2637 Orphanet:377789 obsolete malformation syndrome -MONDO:0008874 Bangstad syndrome MONDO:0026209 Orphanet:1227 Orphanet:183643 obsolete genetic polyendocrinopathy -MONDO:0008874 Bangstad syndrome MONDO:8000032 Orphanet:1227 Orphanet:377789 obsolete malformation syndrome -MONDO:0008875 blepharophimosis-ptosis-esotropia-syndactyly-short stature syndrome MONDO:0020169 Orphanet:2057 Orphanet:98578 obsolete rare disorder with ptosis -MONDO:0008875 blepharophimosis-ptosis-esotropia-syndactyly-short stature syndrome MONDO:0020253 Orphanet:2057 Orphanet:98683 obsolete syndrome with a symptomatic strabismus -MONDO:0008875 blepharophimosis-ptosis-esotropia-syndactyly-short stature syndrome MONDO:0043008 Orphanet:2057 Orphanet:330206 obsolete genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability -MONDO:0008875 blepharophimosis-ptosis-esotropia-syndactyly-short stature syndrome MONDO:8000032 Orphanet:2057 Orphanet:377789 obsolete malformation syndrome -MONDO:0008876 Bloom syndrome MONDO:0015329 Orphanet:125 Orphanet:139021 obsolete malformation syndrome with short stature -MONDO:0008876 Bloom syndrome MONDO:0015707 Orphanet:125 Orphanet:169346 obsolete DNA repair defect other than combined T-cell and B-cell immunodeficiencies -MONDO:0008876 Bloom syndrome MONDO:0015945 Orphanet:125 Orphanet:183422 obsolete polymalformative genetic syndrome with increased risk of developing cancer -MONDO:0008876 Bloom syndrome MONDO:0019044 Orphanet:125 Orphanet:68347 obsolete tumor of hematopoietic and lymphoid tissues -MONDO:0008876 Bloom syndrome MONDO:0019304 Orphanet:125 Orphanet:79390 obsolete rare photodermatosis -MONDO:0008876 Bloom syndrome MONDO:0026187 Orphanet:125 Orphanet:183570 obsolete genetic malformation syndrome with short stature -MONDO:0008876 Bloom syndrome MONDO:0035862 Orphanet:125 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome -MONDO:0008878 bone dysplasia, lethal Holmgren type MONDO:0019718 Orphanet:1842 Orphanet:93465 obsolete lethal chondrodysplasia -MONDO:0008878 bone dysplasia, lethal Holmgren type MONDO:8000032 Orphanet:1842 Orphanet:377789 obsolete malformation syndrome -MONDO:0008879 Bowen-Conradi syndrome MONDO:0017119 Orphanet:1270 Orphanet:269528 obsolete syndrome with microcephaly as major feature -MONDO:0008879 Bowen-Conradi syndrome MONDO:0035863 Orphanet:1270 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0008879 Bowen-Conradi syndrome MONDO:8000032 Orphanet:1270 Orphanet:377789 obsolete malformation syndrome -MONDO:0008881 kyphomelic dysplasia MONDO:8000032 Orphanet:1801 Orphanet:377789 obsolete malformation syndrome -MONDO:0008884 oculoosteocutaneous syndrome MONDO:0020253 Orphanet:2713 Orphanet:98683 obsolete syndrome with a symptomatic strabismus -MONDO:0008884 oculoosteocutaneous syndrome MONDO:8000032 Orphanet:2713 Orphanet:377789 obsolete malformation syndrome -MONDO:0008885 Elsahy-Waters syndrome MONDO:0015620 Orphanet:1299 Orphanet:165707 obsolete syndromic urogenital tract malformation -MONDO:0008885 Elsahy-Waters syndrome MONDO:0035863 Orphanet:1299 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0008885 Elsahy-Waters syndrome MONDO:8000032 Orphanet:1299 Orphanet:377789 obsolete malformation syndrome -MONDO:0008888 Williams-Campbell syndrome MONDO:0015221 Orphanet:411501 Orphanet:108993 obsolete non-syndromic respiratory or mediastinal malformation -MONDO:0008888 Williams-Campbell syndrome MONDO:0015930 Orphanet:411501 Orphanet:182111 obsolete respiratory malformation -MONDO:0008888 Williams-Campbell syndrome MONDO:8000030 Orphanet:411501 Orphanet:377791 obsolete morphological anomaly -MONDO:0008889 thromboangiitis obliterans MONDO:0015489 Orphanet:36258 Orphanet:156143 obsolete predominantly medium-vessel vasculitis -MONDO:0008891 riboflavin transporter deficiency MONDO:0016114 Orphanet:97229 Orphanet:206704 obsolete bulbospinal muscular atrophy of childhood -MONDO:0008891 riboflavin transporter deficiency MONDO:0018609 Orphanet:97229 Orphanet:441434 obsolete syndromic hereditary optic neuropathy -MONDO:0008891 riboflavin transporter deficiency MONDO:0019589 Orphanet:97229 Orphanet:90642 obsolete syndromic genetic hearing loss -MONDO:0008891 riboflavin transporter deficiency MONDO:8000032 Orphanet:97229 Orphanet:377789 obsolete malformation syndrome -MONDO:0008892 progressive familial intrahepatic cholestasis type 1 MONDO:8000031 Orphanet:79306 Orphanet:557494 obsolete subtype of a disorder -MONDO:0008893 C syndrome MONDO:0035863 Orphanet:1308 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0008893 C syndrome MONDO:8000032 Orphanet:1308 Orphanet:377789 obsolete malformation syndrome -MONDO:0008894 cataract-hypertrichosis-intellectual disability syndrome MONDO:0020225 Orphanet:1375 Orphanet:98641 obsolete syndromic cataract -MONDO:0008894 cataract-hypertrichosis-intellectual disability syndrome MONDO:0035862 Orphanet:1375 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome -MONDO:0008894 cataract-hypertrichosis-intellectual disability syndrome MONDO:8000032 Orphanet:1375 Orphanet:377789 obsolete malformation syndrome -MONDO:0008895 hereditary arterial and articular multiple calcification syndrome MONDO:0016517 Orphanet:289601 Orphanet:233655 obsolete rare genetic vascular disease -MONDO:0008896 campomelia, Cumming type MONDO:0035863 Orphanet:1318 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0008896 campomelia, Cumming type MONDO:8000032 Orphanet:1318 Orphanet:377789 obsolete malformation syndrome -MONDO:0008898 camptodactyly syndrome, Guadalajara type 1 MONDO:0043008 Orphanet:1327 Orphanet:330206 obsolete genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability -MONDO:0008898 camptodactyly syndrome, Guadalajara type 1 MONDO:8000032 Orphanet:1327 Orphanet:377789 obsolete malformation syndrome -MONDO:0008899 camptodactyly syndrome, Guadalajara type 2 MONDO:0017432 Orphanet:1326 Orphanet:294955 obsolete syndrome with limb reduction defects -MONDO:0008899 camptodactyly syndrome, Guadalajara type 2 MONDO:0043008 Orphanet:1326 Orphanet:330206 obsolete genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability -MONDO:0008899 camptodactyly syndrome, Guadalajara type 2 MONDO:8000032 Orphanet:1326 Orphanet:377789 obsolete malformation syndrome -MONDO:0008900 camptodactyly with fibrous tissue hyperplasia and skeletal dysplasia MONDO:0018235 Orphanet:1321 Orphanet:364568 obsolete dysostosis with limb anomaly as a major feature -MONDO:0008900 camptodactyly with fibrous tissue hyperplasia and skeletal dysplasia MONDO:0035863 Orphanet:1321 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0008900 camptodactyly with fibrous tissue hyperplasia and skeletal dysplasia MONDO:8000032 Orphanet:1321 Orphanet:377789 obsolete malformation syndrome -MONDO:0008901 Tel Hashomer camptodactyly syndrome MONDO:0018235 Orphanet:3292 Orphanet:364568 obsolete dysostosis with limb anomaly as a major feature -MONDO:0008901 Tel Hashomer camptodactyly syndrome MONDO:8000032 Orphanet:3292 Orphanet:377789 obsolete malformation syndrome -MONDO:0008907 PMM2-congenital disorder of glycosylation MONDO:0018287 Orphanet:79318 Orphanet:371071 obsolete congenital disorder of glycosylation with epilepsy as a major feature -MONDO:0008907 PMM2-congenital disorder of glycosylation MONDO:0018288 Orphanet:79318 Orphanet:371157 obsolete congenital disorder of glycosylation with hepatic involvement -MONDO:0008907 PMM2-congenital disorder of glycosylation MONDO:0018293 Orphanet:79318 Orphanet:371200 obsolete congenital disorder of glycosylation with skin involvement -MONDO:0008907 PMM2-congenital disorder of glycosylation MONDO:0035862 Orphanet:79318 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome -MONDO:0008908 MGAT2-congenital disorder of glycosylation MONDO:0018284 Orphanet:79329 Orphanet:371047 obsolete congenital disorder of glycosylation with neurological involvement -MONDO:0008908 MGAT2-congenital disorder of glycosylation MONDO:0018290 Orphanet:79329 Orphanet:371183 obsolete congenital disorder of glycosylation with cardiac malformation as a major feature -MONDO:0008908 MGAT2-congenital disorder of glycosylation MONDO:0035862 Orphanet:79329 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome -MONDO:0008915 dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome MONDO:0015906 Orphanet:2229 Orphanet:181441 obsolete rare disorder with hypergonadotropic hypogonadism -MONDO:0008915 dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome MONDO:0016337 Orphanet:2229 Orphanet:217619 obsolete syndrome associated with dilated cardiomyopathy -MONDO:0008915 dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome MONDO:0029810 Orphanet:2229 Orphanet:300755 obsolete laminopathy with striated muscle involvement -MONDO:0008915 dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome MONDO:8000032 Orphanet:2229 Orphanet:377789 obsolete malformation syndrome -MONDO:0008917 heart defects-limb shortening syndrome MONDO:0015506 Orphanet:1354 Orphanet:156532 obsolete rare syndrome with cardiac malformations -MONDO:0008917 heart defects-limb shortening syndrome MONDO:0017432 Orphanet:1354 Orphanet:294955 obsolete syndrome with limb reduction defects -MONDO:0008917 heart defects-limb shortening syndrome MONDO:0043008 Orphanet:1354 Orphanet:330206 obsolete genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability -MONDO:0008917 heart defects-limb shortening syndrome MONDO:8000032 Orphanet:1354 Orphanet:377789 obsolete malformation syndrome -MONDO:0008918 carnitine-acylcarnitine translocase deficiency MONDO:0016328 Orphanet:159 Orphanet:217591 obsolete fatty acid oxidation and ketogenesis disorder with hypertrophic cardiomyopathy -MONDO:0008918 carnitine-acylcarnitine translocase deficiency MONDO:0035862 Orphanet:159 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome -MONDO:0008919 systemic primary carnitine deficiency disease MONDO:0016117 Orphanet:158 Orphanet:206953 obsolete muscular lipidosis -MONDO:0008919 systemic primary carnitine deficiency disease MONDO:0016336 Orphanet:158 Orphanet:217616 obsolete fatty acid oxidation and ketogenesis disorder with dilated cardiomyopathy -MONDO:0008921 carnosinemia MONDO:0018652 Orphanet:1361 Orphanet:447874 obsolete biological anomaly without phenotypic characterization -MONDO:0008921 carnosinemia MONDO:0032011 Orphanet:1361 Orphanet:377790 obsolete biological anomaly -MONDO:0008922 Sengers syndrome MONDO:0016327 Orphanet:1369 Orphanet:217587 obsolete mitochondrial disease with hypertrophic cardiomyopathy -MONDO:0008922 Sengers syndrome MONDO:0018120 Orphanet:1369 Orphanet:352312 obsolete disorder of phospholipids, sphingolipids and fatty acids biosynthesis with skeletal muscle predominant involvement -MONDO:0008922 Sengers syndrome MONDO:0020225 Orphanet:1369 Orphanet:98641 obsolete syndromic cataract -MONDO:0008922 Sengers syndrome MONDO:0020253 Orphanet:1369 Orphanet:98683 obsolete syndrome with a symptomatic strabismus -MONDO:0008923 autosomal recessive palmoplantar keratoderma and congenital alopecia MONDO:0017671 Orphanet:1366 Orphanet:307804 obsolete autosomal recessive disease with diffuse palmoplantar keratoderma as a major feature -MONDO:0008923 autosomal recessive palmoplantar keratoderma and congenital alopecia MONDO:0020225 Orphanet:1366 Orphanet:98641 obsolete syndromic cataract -MONDO:0008926 COFS syndrome MONDO:0020233 Orphanet:1466 Orphanet:98649 obsolete dentocutaneous disease with cataract -MONDO:0008926 COFS syndrome MONDO:8000031 Orphanet:1466 Orphanet:557494 obsolete subtype of a disorder -MONDO:0008928 cataract-ataxia-deafness syndrome MONDO:0019589 Orphanet:1368 Orphanet:90642 obsolete syndromic genetic hearing loss -MONDO:0008928 cataract-ataxia-deafness syndrome MONDO:0020225 Orphanet:1368 Orphanet:98641 obsolete syndromic cataract -MONDO:0008931 Cenani-Lenz syndactyly syndrome MONDO:0017434 Orphanet:3258 Orphanet:294959 obsolete syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy -MONDO:0008931 Cenani-Lenz syndactyly syndrome MONDO:8000032 Orphanet:3258 Orphanet:377789 obsolete malformation syndrome -MONDO:0008934 cerebellar ataxia-ectodermal dysplasia syndrome MONDO:8000032 Orphanet:1174 Orphanet:377789 obsolete malformation syndrome -MONDO:0008935 cerebellar ataxia-hypogonadism syndrome MONDO:0015890 Orphanet:1173 Orphanet:181387 obsolete rare disorder with congenital hypogonadotropic hypogonadism -MONDO:0008939 isolated cerebellar hypoplasia/agenesis MONDO:0017114 Orphanet:1398 Orphanet:269224 obsolete global cerebellar malformation -MONDO:0008939 isolated cerebellar hypoplasia/agenesis MONDO:8000030 Orphanet:1398 Orphanet:377791 obsolete morphological anomaly -MONDO:0008941 hepatic fibrosis-renal cysts-intellectual disability syndrome MONDO:0015114 Orphanet:2031 Orphanet:101939 obsolete rare parenchymal liver disease -MONDO:0008941 hepatic fibrosis-renal cysts-intellectual disability syndrome MONDO:0015508 Orphanet:2031 Orphanet:156604 obsolete hereditary parenchymatous liver disease -MONDO:0008941 hepatic fibrosis-renal cysts-intellectual disability syndrome MONDO:0035863 Orphanet:2031 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0008941 hepatic fibrosis-renal cysts-intellectual disability syndrome MONDO:8000032 Orphanet:2031 Orphanet:377789 obsolete malformation syndrome -MONDO:0008943 autosomal recessive spinocerebellar ataxia 2 MONDO:0020225 Orphanet:1170 Orphanet:98641 obsolete syndromic cataract -MONDO:0008943 autosomal recessive spinocerebellar ataxia 2 MONDO:0035862 Orphanet:1170 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome -MONDO:0008947 bilateral striopallidodentate calcinosis MONDO:0017635 Orphanet:1980 Orphanet:306666 obsolete parkinsonian syndrome due to neurodegenerative disease -MONDO:0008947 bilateral striopallidodentate calcinosis MONDO:0017661 Orphanet:1980 Orphanet:307055 obsolete rare parkinsonian syndrome due to genetic neurodegenerative disease -MONDO:0008947 bilateral striopallidodentate calcinosis MONDO:0019515 Orphanet:1980 Orphanet:89043 obsolete rare dementia -MONDO:0008947 bilateral striopallidodentate calcinosis MONDO:0035862 Orphanet:1980 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome -MONDO:0008948 cerebrotendinous xanthomatosis MONDO:0015581 Orphanet:909 Orphanet:163631 obsolete bile acid synthesis defect with cholestasis and malabsorption -MONDO:0008948 cerebrotendinous xanthomatosis MONDO:0015949 Orphanet:909 Orphanet:183484 obsolete rare genetic subcutaneous tissue disorder -MONDO:0008948 cerebrotendinous xanthomatosis MONDO:0016133 Orphanet:909 Orphanet:207018 obsolete rare hereditary metabolic disease with peripheral neuropathy -MONDO:0008948 cerebrotendinous xanthomatosis MONDO:0016405 Orphanet:909 Orphanet:225710 obsolete sterol metabolism disorder with epilepsy -MONDO:0008948 cerebrotendinous xanthomatosis MONDO:0019058 Orphanet:909 Orphanet:68385 obsolete neurometabolic disease -MONDO:0008948 cerebrotendinous xanthomatosis MONDO:0020228 Orphanet:909 Orphanet:98644 obsolete cataract associated with a metabolic disease -MONDO:0008948 cerebrotendinous xanthomatosis MONDO:0035862 Orphanet:909 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome -MONDO:0008959 CHAND syndrome MONDO:0015501 Orphanet:1401 Orphanet:156237 obsolete syndrome or malformation associated with head and neck malformations -MONDO:0008959 CHAND syndrome MONDO:8000032 Orphanet:1401 Orphanet:377789 obsolete malformation syndrome -MONDO:0008960 Charcot-Marie-Tooth disease-hearing loss-intellectual disability syndrome MONDO:0015361 Orphanet:90103 Orphanet:140459 obsolete autosomal recessive hereditary demyelinating motor and sensory neuropathy -MONDO:0008960 Charcot-Marie-Tooth disease-hearing loss-intellectual disability syndrome MONDO:0019589 Orphanet:90103 Orphanet:90642 obsolete syndromic genetic hearing loss -MONDO:0008960 Charcot-Marie-Tooth disease-hearing loss-intellectual disability syndrome MONDO:0035862 Orphanet:90103 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome -MONDO:0008960 Charcot-Marie-Tooth disease-hearing loss-intellectual disability syndrome MONDO:8000032 Orphanet:90103 Orphanet:377789 obsolete malformation syndrome -MONDO:0008962 Griscelli syndrome type 1 MONDO:0015144 Orphanet:79476 Orphanet:102005 obsolete brain inflammatory disease -MONDO:0008962 Griscelli syndrome type 1 MONDO:8000031 Orphanet:79476 Orphanet:557494 obsolete subtype of a disorder -MONDO:0008963 Chediak-Higashi syndrome MONDO:0015918 Orphanet:167 Orphanet:182070 obsolete rare neurodegenerative disease -MONDO:0008963 Chediak-Higashi syndrome MONDO:0016132 Orphanet:167 Orphanet:207015 obsolete rare hereditary disease with peripheral neuropathy -MONDO:0008963 Chediak-Higashi syndrome MONDO:0018042 Orphanet:167 Orphanet:331249 obsolete immunodeficiency syndrome with abnormal pigmentation -MONDO:0008963 Chediak-Higashi syndrome MONDO:0019305 Orphanet:167 Orphanet:79391 obsolete immune deficiency with skin involvement -MONDO:0008963 Chediak-Higashi syndrome MONDO:0020118 Orphanet:167 Orphanet:98456 obsolete dense granule disease -MONDO:0008963 Chediak-Higashi syndrome MONDO:0026166 Orphanet:167 Orphanet:183494 obsolete genetic immune deficiency with skin involvement -MONDO:0008964 congenital secretory chloride diarrhea 1 MONDO:0015178 Orphanet:53689 Orphanet:104003 obsolete congenital intestinal transport defect -MONDO:0008965 CHARGE syndrome MONDO:0015501 Orphanet:138 Orphanet:156237 obsolete syndrome or malformation associated with head and neck malformations -MONDO:0008965 CHARGE syndrome MONDO:0015506 Orphanet:138 Orphanet:156532 obsolete rare syndrome with cardiac malformations -MONDO:0008965 CHARGE syndrome MONDO:0015620 Orphanet:138 Orphanet:165707 obsolete syndromic urogenital tract malformation -MONDO:0008965 CHARGE syndrome MONDO:0015890 Orphanet:138 Orphanet:181387 obsolete rare disorder with congenital hypogonadotropic hypogonadism -MONDO:0008965 CHARGE syndrome MONDO:0018036 Orphanet:138 Orphanet:331220 obsolete immunodeficiency due to absence of thymus -MONDO:0008965 CHARGE syndrome MONDO:0019589 Orphanet:138 Orphanet:90642 obsolete syndromic genetic hearing loss -MONDO:0008965 CHARGE syndrome MONDO:0019721 Orphanet:138 Orphanet:93547 obsolete syndromic renal or urinary tract malformation -MONDO:0008965 CHARGE syndrome MONDO:0020237 Orphanet:138 Orphanet:98655 obsolete lens shape anomaly -MONDO:0008965 CHARGE syndrome MONDO:0032221 Orphanet:138 Orphanet:399846 obsolete rare disorder with female infertility due to a congenital hypogonadotropic hypogonadism -MONDO:0008965 CHARGE syndrome MONDO:0035863 Orphanet:138 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0008965 CHARGE syndrome MONDO:8000032 Orphanet:138 Orphanet:377789 obsolete malformation syndrome -MONDO:0008966 Aagenaes syndrome MONDO:0015507 Orphanet:1414 Orphanet:156601 obsolete rare genetic hepatic disease -MONDO:0008966 Aagenaes syndrome MONDO:0018928 Orphanet:1414 Orphanet:57146 obsolete rare hepatic disease -MONDO:0008967 congenital bile acid synthesis defect 4 MONDO:0016133 Orphanet:79095 Orphanet:207018 obsolete rare hereditary metabolic disease with peripheral neuropathy -MONDO:0008967 congenital bile acid synthesis defect 4 MONDO:0017753 Orphanet:79095 Orphanet:309810 obsolete disorder of peroxisomal alpha-, beta- and omega-oxidation -MONDO:0008970 chondrodysplasia Blomstrand type MONDO:0020225 Orphanet:50945 Orphanet:98641 obsolete syndromic cataract -MONDO:0008970 chondrodysplasia Blomstrand type MONDO:8000032 Orphanet:50945 Orphanet:377789 obsolete malformation syndrome -MONDO:0008972 rhizomelic chondrodysplasia punctata type 1 MONDO:8000031 Orphanet:309789 Orphanet:557494 obsolete subtype of a disorder -MONDO:0008973 chondrodysplasia punctata, Toriello type MONDO:8000032 Orphanet:79347 Orphanet:377789 obsolete malformation syndrome -MONDO:0008975 otospondylomegaepiphyseal dysplasia MONDO:0800087 Orphanet:1427 Orphanet:93422 obsolete type 11 collagen-related bone disorder -MONDO:0008978 chordoma MONDO:0015081 Orphanet:178 Orphanet:100101 obsolete neuroendocrine tumor with other location -MONDO:0008978 chordoma MONDO:0015959 Orphanet:178 Orphanet:183527 obsolete inherited syndrome with bone tumors as a major feature -MONDO:0008978 chordoma MONDO:0019833 Orphanet:178 Orphanet:95503 obsolete pituitary hormone deficiency from tumoral origin -MONDO:0008978 chordoma MONDO:0025511 Orphanet:178 Orphanet:271847 obsolete inherited neuroendocrine tumor -MONDO:0008980 ataxia-hypogonadism-choroidal dystrophy syndrome MONDO:0015890 Orphanet:1180 Orphanet:181387 obsolete rare disorder with congenital hypogonadotropic hypogonadism -MONDO:0008980 ataxia-hypogonadism-choroidal dystrophy syndrome MONDO:0034953 Orphanet:1180 Orphanet:519325 obsolete syndromic inherited retinal disorder -MONDO:0008981 infantile choroidocerebral calcification syndrome MONDO:0020253 Orphanet:1313 Orphanet:98683 obsolete syndrome with a symptomatic strabismus -MONDO:0008981 infantile choroidocerebral calcification syndrome MONDO:0035862 Orphanet:1313 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome -MONDO:0008991 Verloove Vanhorick-Brubakk syndrome MONDO:0015335 Orphanet:3429 Orphanet:139039 obsolete Mendelian syndromes with cleft lip/palate -MONDO:0008991 Verloove Vanhorick-Brubakk syndrome MONDO:0043008 Orphanet:3429 Orphanet:330206 obsolete genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability -MONDO:0008991 Verloove Vanhorick-Brubakk syndrome MONDO:8000032 Orphanet:3429 Orphanet:377789 obsolete malformation syndrome -MONDO:0008992 Juberg-Hayward syndrome MONDO:0015335 Orphanet:2319 Orphanet:139039 obsolete Mendelian syndromes with cleft lip/palate -MONDO:0008992 Juberg-Hayward syndrome MONDO:0043008 Orphanet:2319 Orphanet:330206 obsolete genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability -MONDO:0008992 Juberg-Hayward syndrome MONDO:8000032 Orphanet:2319 Orphanet:377789 obsolete malformation syndrome -MONDO:0008993 cleft palate-stapes fixation-oligodontia syndrome MONDO:0015336 Orphanet:2010 Orphanet:139042 obsolete malformation syndrome with odontal and/or periodontal component -MONDO:0008993 cleft palate-stapes fixation-oligodontia syndrome MONDO:0026190 Orphanet:2010 Orphanet:183580 obsolete genetic malformation syndrome with odontal and/or periodontal component -MONDO:0008993 cleft palate-stapes fixation-oligodontia syndrome MONDO:8000032 Orphanet:2010 Orphanet:377789 obsolete malformation syndrome -MONDO:0008995 Yunis-Varon syndrome MONDO:0019709 Orphanet:3472 Orphanet:93451 obsolete cleidocranial dysplasia and isolated cranial ossification defect -MONDO:0008995 Yunis-Varon syndrome MONDO:0035863 Orphanet:3472 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0008995 Yunis-Varon syndrome MONDO:8000032 Orphanet:3472 Orphanet:377789 obsolete malformation syndrome -MONDO:0008998 Cockayne syndrome type 3 MONDO:8000031 Orphanet:90324 Orphanet:557494 obsolete subtype of a disorder -MONDO:0008999 Cohen syndrome MONDO:0016565 Orphanet:193 Orphanet:240371 obsolete syndromic genetic obesity -MONDO:0008999 Cohen syndrome MONDO:0018032 Orphanet:193 Orphanet:331184 obsolete constitutional neutropenia with extra-hematopoietic manifestations -MONDO:0008999 Cohen syndrome MONDO:0020240 Orphanet:193 Orphanet:98661 obsolete syndromic retinitis pigmentosa -MONDO:0008999 Cohen syndrome MONDO:0035863 Orphanet:193 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0008999 Cohen syndrome MONDO:8000032 Orphanet:193 Orphanet:377789 obsolete malformation syndrome -MONDO:0009001 macular coloboma-cleft palate-hallux valgus syndrome MONDO:0015335 Orphanet:91494 Orphanet:139039 obsolete Mendelian syndromes with cleft lip/palate -MONDO:0009001 macular coloboma-cleft palate-hallux valgus syndrome MONDO:0020145 Orphanet:91494 Orphanet:98553 obsolete developmental defect of the eye -MONDO:0009001 macular coloboma-cleft palate-hallux valgus syndrome MONDO:0026186 Orphanet:91494 Orphanet:183557 obsolete genetic developmental defect of the eye -MONDO:0009001 macular coloboma-cleft palate-hallux valgus syndrome MONDO:8000032 Orphanet:91494 Orphanet:377789 obsolete malformation syndrome -MONDO:0009007 Jalili syndrome MONDO:0015336 Orphanet:1873 Orphanet:139042 obsolete malformation syndrome with odontal and/or periodontal component -MONDO:0009007 Jalili syndrome MONDO:0026190 Orphanet:1873 Orphanet:183580 obsolete genetic malformation syndrome with odontal and/or periodontal component -MONDO:0009007 Jalili syndrome MONDO:0034953 Orphanet:1873 Orphanet:519325 obsolete syndromic inherited retinal disorder -MONDO:0009007 Jalili syndrome MONDO:8000032 Orphanet:1873 Orphanet:377789 obsolete malformation syndrome -MONDO:0009008 heart defect - tongue hamartoma - polysyndactyly syndrome MONDO:0043008 Orphanet:1338 Orphanet:330206 obsolete genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability -MONDO:0009008 heart defect - tongue hamartoma - polysyndactyly syndrome MONDO:8000032 Orphanet:1338 Orphanet:377789 obsolete malformation syndrome -MONDO:0009009 hypoplasminogenemia MONDO:0020198 Orphanet:722 Orphanet:98610 obsolete rare conjunctival disease -MONDO:0009009 hypoplasminogenemia MONDO:0028795 Orphanet:722 Orphanet:271870 obsolete rare genetic systemic or rheumatologic disease -MONDO:0009010 aortic arch interruption MONDO:0020286 Orphanet:2299 Orphanet:98718 obsolete aortic malformation -MONDO:0009010 aortic arch interruption MONDO:8000030 Orphanet:2299 Orphanet:377791 obsolete morphological anomaly -MONDO:0009012 multiple pterygium-malignant hyperthermia syndrome MONDO:0015501 Orphanet:2215 Orphanet:156237 obsolete syndrome or malformation associated with head and neck malformations -MONDO:0009012 multiple pterygium-malignant hyperthermia syndrome MONDO:0018753 Orphanet:2215 Orphanet:466658 obsolete rare disease with malignant hyperthermia -MONDO:0009012 multiple pterygium-malignant hyperthermia syndrome MONDO:8000032 Orphanet:2215 Orphanet:377789 obsolete malformation syndrome -MONDO:0009015 corneal dystrophy-perceptive deafness syndrome MONDO:0019589 Orphanet:1490 Orphanet:90642 obsolete syndromic genetic hearing loss -MONDO:0009015 corneal dystrophy-perceptive deafness syndrome MONDO:0020215 Orphanet:1490 Orphanet:98628 obsolete syndromic corneal dystrophy -MONDO:0009015 corneal dystrophy-perceptive deafness syndrome MONDO:8000032 Orphanet:1490 Orphanet:377789 obsolete malformation syndrome -MONDO:0009021 Toriello-Carey syndrome MONDO:0015335 Orphanet:3338 Orphanet:139039 obsolete Mendelian syndromes with cleft lip/palate -MONDO:0009021 Toriello-Carey syndrome MONDO:0016055 Orphanet:3338 Orphanet:199639 obsolete syndrome with corpus callosum agenesis /dysgenesis as a major feature -MONDO:0009021 Toriello-Carey syndrome MONDO:0017122 Orphanet:3338 Orphanet:269573 obsolete genetic syndrome with corpus callosum agenesis/dysgenesis as a major feature -MONDO:0009021 Toriello-Carey syndrome MONDO:0035863 Orphanet:3338 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0009021 Toriello-Carey syndrome MONDO:8000032 Orphanet:3338 Orphanet:377789 obsolete malformation syndrome -MONDO:0009024 cortical blindness-intellectual disability-polydactyly syndrome MONDO:0034962 Orphanet:1389 Orphanet:519343 obsolete rare ophthalmic disorder with cortical involvement -MONDO:0009024 cortical blindness-intellectual disability-polydactyly syndrome MONDO:0035863 Orphanet:1389 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0009024 cortical blindness-intellectual disability-polydactyly syndrome MONDO:8000032 Orphanet:1389 Orphanet:377789 obsolete malformation syndrome -MONDO:0009025 apparent mineralocorticoid excess MONDO:0015124 Orphanet:320 Orphanet:101954 obsolete rare adrenal disease -MONDO:0009025 apparent mineralocorticoid excess MONDO:0015512 Orphanet:320 Orphanet:156629 obsolete genetic hypertension -MONDO:0009025 apparent mineralocorticoid excess MONDO:0015971 Orphanet:320 Orphanet:183637 obsolete rare genetic adrenal disease -MONDO:0009026 Costello syndrome MONDO:0015331 Orphanet:3071 Orphanet:139027 obsolete malformation syndrome with skin/mucosae involvement -MONDO:0009026 Costello syndrome MONDO:0015945 Orphanet:3071 Orphanet:183422 obsolete polymalformative genetic syndrome with increased risk of developing cancer -MONDO:0009026 Costello syndrome MONDO:0018792 Orphanet:3071 Orphanet:477771 obsolete Moyamoya syndrome -MONDO:0009026 Costello syndrome MONDO:0026989 Orphanet:3071 Orphanet:217595 obsolete syndrome associated with hypertrophic cardiomyopathy -MONDO:0009026 Costello syndrome MONDO:0035863 Orphanet:3071 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0009026 Costello syndrome MONDO:8000032 Orphanet:3071 Orphanet:377789 obsolete malformation syndrome -MONDO:0009028 Crane-Heise syndrome MONDO:0015335 Orphanet:1512 Orphanet:139039 obsolete Mendelian syndromes with cleft lip/palate -MONDO:0009028 Crane-Heise syndrome MONDO:0035863 Orphanet:1512 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0009028 Crane-Heise syndrome MONDO:8000032 Orphanet:1512 Orphanet:377789 obsolete malformation syndrome -MONDO:0009031 craniodiaphyseal dysplasia MONDO:0020018 Orphanet:1513 Orphanet:98038 obsolete cranial malformation -MONDO:0009031 craniodiaphyseal dysplasia MONDO:0026182 Orphanet:1513 Orphanet:183542 obsolete genetic cranial malformation -MONDO:0009031 craniodiaphyseal dysplasia MONDO:0800084 Orphanet:1513 Orphanet:93444 obsolete primary bone dysplasia with increased bone density -MONDO:0009031 craniodiaphyseal dysplasia MONDO:8000032 Orphanet:1513 Orphanet:377789 obsolete malformation syndrome -MONDO:0009032 cranioectodermal dysplasia MONDO:0020240 Orphanet:1515 Orphanet:98661 obsolete syndromic retinitis pigmentosa -MONDO:0009032 cranioectodermal dysplasia MONDO:0022409 Orphanet:1515 Orphanet:156162 obsolete nephropathy-associated ciliopathy -MONDO:0009032 cranioectodermal dysplasia MONDO:8000032 Orphanet:1515 Orphanet:377789 obsolete malformation syndrome -MONDO:0009033 temtamy syndrome MONDO:0016055 Orphanet:1777 Orphanet:199639 obsolete syndrome with corpus callosum agenesis /dysgenesis as a major feature -MONDO:0009033 temtamy syndrome MONDO:0017122 Orphanet:1777 Orphanet:269573 obsolete genetic syndrome with corpus callosum agenesis/dysgenesis as a major feature -MONDO:0009033 temtamy syndrome MONDO:0035863 Orphanet:1777 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0009033 temtamy syndrome MONDO:8000032 Orphanet:1777 Orphanet:377789 obsolete malformation syndrome -MONDO:0009034 craniofacial dyssynostosis MONDO:8000032 Orphanet:1516 Orphanet:377789 obsolete malformation syndrome -MONDO:0009036 cardiocranial syndrome, Pfeiffer type MONDO:0035863 Orphanet:2872 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0009036 cardiocranial syndrome, Pfeiffer type MONDO:8000032 Orphanet:2872 Orphanet:377789 obsolete malformation syndrome -MONDO:0009039 Baller-Gerold syndrome MONDO:0015246 Orphanet:1225 Orphanet:117573 obsolete syndromic anorectal malformation -MONDO:0009039 Baller-Gerold syndrome MONDO:8000032 Orphanet:1225 Orphanet:377789 obsolete malformation syndrome -MONDO:0009042 craniotelencephalic dysplasia MONDO:0015147 Orphanet:1528 Orphanet:102010 obsolete other syndrome with lissencephaly as a major feature -MONDO:0009042 craniotelencephalic dysplasia MONDO:8000032 Orphanet:1528 Orphanet:377789 obsolete malformation syndrome -MONDO:0009044 Crigler-Najjar syndrome MONDO:0015115 Orphanet:205 Orphanet:101940 obsolete rare genetic metabolic liver disease -MONDO:0009045 cataract-nephropathy-encephalopathy syndrome MONDO:0019744 Orphanet:1380 Orphanet:93603 obsolete rare renal tubular disease -MONDO:0009045 cataract-nephropathy-encephalopathy syndrome MONDO:0020225 Orphanet:1380 Orphanet:98641 obsolete syndromic cataract -MONDO:0009045 cataract-nephropathy-encephalopathy syndrome MONDO:8000032 Orphanet:1380 Orphanet:377789 obsolete malformation syndrome -MONDO:0009046 Fraser syndrome MONDO:0015246 Orphanet:2052 Orphanet:117573 obsolete syndromic anorectal malformation -MONDO:0009046 Fraser syndrome MONDO:0019589 Orphanet:2052 Orphanet:90642 obsolete syndromic genetic hearing loss -MONDO:0009046 Fraser syndrome MONDO:0019721 Orphanet:2052 Orphanet:93547 obsolete syndromic renal or urinary tract malformation -MONDO:0009046 Fraser syndrome MONDO:0035863 Orphanet:2052 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0009046 Fraser syndrome MONDO:0043008 Orphanet:2052 Orphanet:330206 obsolete genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability -MONDO:0009046 Fraser syndrome MONDO:8000032 Orphanet:2052 Orphanet:377789 obsolete malformation syndrome -MONDO:0009049 Cushing syndrome due to macronodular adrenal hyperplasia MONDO:0015971 Orphanet:189427 Orphanet:183637 obsolete rare genetic adrenal disease -MONDO:0009049 Cushing syndrome due to macronodular adrenal hyperplasia MONDO:0018387 Orphanet:189427 Orphanet:399584 obsolete rare male infertility due to adrenal disorder -MONDO:0009049 Cushing syndrome due to macronodular adrenal hyperplasia MONDO:0018406 Orphanet:189427 Orphanet:399994 obsolete rare male infertility due to adrenal disorder of genetic origin -MONDO:0009051 cutaneous photosensitivity-lethal colitis syndrome MONDO:0015187 Orphanet:2881 Orphanet:104012 obsolete rare inflammatory bowel disease -MONDO:0009053 ALDH18A1-related de Barsy syndrome MONDO:8000031 Orphanet:35664 Orphanet:557494 obsolete subtype of a disorder -MONDO:0009054 autosomal recessive cutis laxa type 2, classic type MONDO:8000031 Orphanet:357074 Orphanet:557494 obsolete subtype of a disorder -MONDO:0009055 cutis marmorata telangiectatica congenita MONDO:8000032 Orphanet:1556 Orphanet:377789 obsolete malformation syndrome -MONDO:0009061 cystic fibrosis MONDO:0015112 Orphanet:586 Orphanet:101937 obsolete rare pancreatic disease -MONDO:0009061 cystic fibrosis MONDO:0015116 Orphanet:586 Orphanet:101941 obsolete rare biliary tract disease -MONDO:0009061 cystic fibrosis MONDO:0015118 Orphanet:586 Orphanet:101944 obsolete rare pulmonary disease -MONDO:0009061 cystic fibrosis MONDO:0015509 Orphanet:586 Orphanet:156607 obsolete hereditary biliary tract disease -MONDO:0009061 cystic fibrosis MONDO:0015510 Orphanet:586 Orphanet:156610 obsolete rare genetic respiratory disease -MONDO:0009061 cystic fibrosis MONDO:0015618 Orphanet:586 Orphanet:165661 obsolete genetic pancreatic disease -MONDO:0009061 cystic fibrosis MONDO:0018396 Orphanet:586 Orphanet:399824 obsolete rare male fertility disorder with obstructive azoospermia -MONDO:0009061 cystic fibrosis MONDO:0018409 Orphanet:586 Orphanet:400003 obsolete rare genetic disorder with obstructive azoospermia -MONDO:0009062 cystic fibrosis-gastritis-megaloblastic anemia syndrome MONDO:0015111 Orphanet:2575 Orphanet:101936 obsolete gastroesophageal disease -MONDO:0009062 cystic fibrosis-gastritis-megaloblastic anemia syndrome MONDO:0015617 Orphanet:2575 Orphanet:165658 obsolete hereditary gastro-esophageal disease -MONDO:0009063 ventriculomegaly-cystic kidney disease MONDO:0017120 Orphanet:443988 Orphanet:269531 obsolete other syndrome with a central nervous system malformation as major feature -MONDO:0009064 ocular cystinosis MONDO:0020215 Orphanet:411641 Orphanet:98628 obsolete syndromic corneal dystrophy -MONDO:0009064 ocular cystinosis MONDO:8000031 Orphanet:411641 Orphanet:557494 obsolete subtype of a disorder -MONDO:0009066 juvenile nephropathic cystinosis MONDO:0019743 Orphanet:411634 Orphanet:93593 obsolete nephropathy secondary to a storage or other metabolic disease -MONDO:0009066 juvenile nephropathic cystinosis MONDO:8000031 Orphanet:411634 Orphanet:557494 obsolete subtype of a disorder -MONDO:0009067 cystinuria MONDO:0019744 Orphanet:214 Orphanet:93603 obsolete rare renal tubular disease -MONDO:0009068 cytochrome-c oxidase deficiency disease MONDO:0016805 Orphanet:254905 Orphanet:254846 obsolete isolated oxidative phosphorylation complex disorder -MONDO:0009068 cytochrome-c oxidase deficiency disease MONDO:0035862 Orphanet:254905 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome -MONDO:0009069 congenital lactic acidosis, Saguenay-Lac-Saint-Jean type MONDO:0016402 Orphanet:70472 Orphanet:225700 obsolete mitochondrial disease with epilepsy -MONDO:0009069 congenital lactic acidosis, Saguenay-Lac-Saint-Jean type MONDO:0016403 Orphanet:70472 Orphanet:225703 obsolete mitochondrial disease with peripheral neuropathy -MONDO:0009069 congenital lactic acidosis, Saguenay-Lac-Saint-Jean type MONDO:0016578 Orphanet:70472 Orphanet:2443 obsolete mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies -MONDO:0009069 congenital lactic acidosis, Saguenay-Lac-Saint-Jean type MONDO:0019058 Orphanet:70472 Orphanet:68385 obsolete neurometabolic disease -MONDO:0009071 hereditary renal hypouricemia MONDO:0019744 Orphanet:94088 Orphanet:93603 obsolete rare renal tubular disease -MONDO:0009071 hereditary renal hypouricemia MONDO:8000032 Orphanet:94088 Orphanet:377789 obsolete malformation syndrome -MONDO:0009072 Dandy-Walker syndrome MONDO:0020133 Orphanet:217 Orphanet:98519 obsolete posterior fossa malformation -MONDO:0009072 Dandy-Walker syndrome MONDO:0957009 Orphanet:217 Orphanet:269557 obsolete hereditary posterior fossa malformation -MONDO:0009072 Dandy-Walker syndrome MONDO:8000030 Orphanet:217 Orphanet:377791 obsolete morphological anomaly -MONDO:0009074 facial dysmorphism-macrocephaly-myopia-Dandy-Walker malformation syndrome MONDO:0017121 Orphanet:1970 Orphanet:269546 obsolete syndrome with a Dandy-Walker malformation as major feature -MONDO:0009074 facial dysmorphism-macrocephaly-myopia-Dandy-Walker malformation syndrome MONDO:0035863 Orphanet:1970 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0009074 facial dysmorphism-macrocephaly-myopia-Dandy-Walker malformation syndrome MONDO:8000032 Orphanet:1970 Orphanet:377789 obsolete malformation syndrome -MONDO:0009075 Dandy-Walker malformation-postaxial polydactyly syndrome MONDO:0017121 Orphanet:1566 Orphanet:269546 obsolete syndrome with a Dandy-Walker malformation as major feature -MONDO:0009075 Dandy-Walker malformation-postaxial polydactyly syndrome MONDO:0017434 Orphanet:1566 Orphanet:294959 obsolete syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy -MONDO:0009075 Dandy-Walker malformation-postaxial polydactyly syndrome MONDO:8000032 Orphanet:1566 Orphanet:377789 obsolete malformation syndrome -MONDO:0009079 DOORS syndrome MONDO:0017922 Orphanet:79500 Orphanet:3231 obsolete deafness-onychodystrophy syndrome -MONDO:0009079 DOORS syndrome MONDO:8000032 Orphanet:79500 Orphanet:377789 obsolete malformation syndrome -MONDO:0009080 split hand-foot malformation 1 with sensorineural hearing loss MONDO:0017432 Orphanet:71271 Orphanet:294955 obsolete syndrome with limb reduction defects -MONDO:0009080 split hand-foot malformation 1 with sensorineural hearing loss MONDO:0017434 Orphanet:71271 Orphanet:294959 obsolete syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy -MONDO:0009080 split hand-foot malformation 1 with sensorineural hearing loss MONDO:0019589 Orphanet:71271 Orphanet:90642 obsolete syndromic genetic hearing loss -MONDO:0009080 split hand-foot malformation 1 with sensorineural hearing loss MONDO:0043008 Orphanet:71271 Orphanet:330206 obsolete genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability -MONDO:0009080 split hand-foot malformation 1 with sensorineural hearing loss MONDO:8000032 Orphanet:71271 Orphanet:377789 obsolete malformation syndrome -MONDO:0009082 high myopia-sensorineural deafness syndrome MONDO:0019589 Orphanet:363396 Orphanet:90642 obsolete syndromic genetic hearing loss -MONDO:0009083 conductive deafness-malformed external ear syndrome MONDO:0019589 Orphanet:3216 Orphanet:90642 obsolete syndromic genetic hearing loss -MONDO:0009083 conductive deafness-malformed external ear syndrome MONDO:8000032 Orphanet:3216 Orphanet:377789 obsolete malformation syndrome -MONDO:0009084 conductive deafness-ptosis-skeletal anomalies syndrome MONDO:8000032 Orphanet:3236 Orphanet:377789 obsolete malformation syndrome -MONDO:0009085 deafness-vitiligo-achalasia syndrome MONDO:0019589 Orphanet:3239 Orphanet:90642 obsolete syndromic genetic hearing loss -MONDO:0009085 deafness-vitiligo-achalasia syndrome MONDO:8000032 Orphanet:3239 Orphanet:377789 obsolete malformation syndrome -MONDO:0009086 deafness-small bowel diverticulosis-neuropathy syndrome MONDO:0019589 Orphanet:3217 Orphanet:90642 obsolete syndromic genetic hearing loss -MONDO:0009089 deafness-oligodontia syndrome MONDO:0015336 Orphanet:3230 Orphanet:139042 obsolete malformation syndrome with odontal and/or periodontal component -MONDO:0009089 deafness-oligodontia syndrome MONDO:0019589 Orphanet:3230 Orphanet:90642 obsolete syndromic genetic hearing loss -MONDO:0009089 deafness-oligodontia syndrome MONDO:0026190 Orphanet:3230 Orphanet:183580 obsolete genetic malformation syndrome with odontal and/or periodontal component -MONDO:0009089 deafness-oligodontia syndrome MONDO:8000032 Orphanet:3230 Orphanet:377789 obsolete malformation syndrome -MONDO:0009091 non-acquired combined pituitary hormone deficiency with spine abnormalities MONDO:0019589 Orphanet:231720 Orphanet:90642 obsolete syndromic genetic hearing loss -MONDO:0009091 non-acquired combined pituitary hormone deficiency with spine abnormalities MONDO:0019827 Orphanet:231720 Orphanet:95495 obsolete disease associated with non-acquired combined pituitary hormone deficiency -MONDO:0009091 non-acquired combined pituitary hormone deficiency with spine abnormalities MONDO:8000032 Orphanet:231720 Orphanet:377789 obsolete malformation syndrome -MONDO:0009092 polycystic lipomembranous osteodysplasia with sclerosing leukoencephaly MONDO:0020136 Orphanet:2770 Orphanet:98534 obsolete neurodegenerative disease with dementia -MONDO:0009092 polycystic lipomembranous osteodysplasia with sclerosing leukoencephaly MONDO:0021037 Orphanet:2770 Orphanet:276058 obsolete genetic neurodegenerative disease with dementia -MONDO:0009092 polycystic lipomembranous osteodysplasia with sclerosing leukoencephaly MONDO:0800089 Orphanet:2770 Orphanet:93450 obsolete primary bone dysplasia with disorganized development of skeletal components -MONDO:0009092 polycystic lipomembranous osteodysplasia with sclerosing leukoencephaly MONDO:8000032 Orphanet:2770 Orphanet:377789 obsolete malformation syndrome -MONDO:0009094 dermochondrocorneal dystrophy MONDO:0018798 Orphanet:79149 Orphanet:477808 obsolete other genetic dermis disorder -MONDO:0009094 dermochondrocorneal dystrophy MONDO:0020215 Orphanet:79149 Orphanet:98628 obsolete syndromic corneal dystrophy -MONDO:0009095 dermatoosteolysis, Kirghizian type MONDO:8000032 Orphanet:1657 Orphanet:377789 obsolete malformation syndrome -MONDO:0009099 nephrogenic diabetes insipidus-intracranial calcification syndrome MONDO:0019744 Orphanet:3145 Orphanet:93603 obsolete rare renal tubular disease -MONDO:0009104 Donnai-Barrow syndrome MONDO:0015216 Orphanet:2143 Orphanet:108979 obsolete syndromic diaphragmatic or abdominal wall malformation -MONDO:0009104 Donnai-Barrow syndrome MONDO:0015880 Orphanet:2143 Orphanet:180779 obsolete syndromic diaphragmatic or thoracic malformation -MONDO:0009104 Donnai-Barrow syndrome MONDO:0035863 Orphanet:2143 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0009104 Donnai-Barrow syndrome MONDO:8000032 Orphanet:2143 Orphanet:377789 obsolete malformation syndrome -MONDO:0009105 trichohepatoenteric syndrome MONDO:0015114 Orphanet:84064 Orphanet:101939 obsolete rare parenchymal liver disease -MONDO:0009105 trichohepatoenteric syndrome MONDO:0015508 Orphanet:84064 Orphanet:156604 obsolete hereditary parenchymatous liver disease -MONDO:0009105 trichohepatoenteric syndrome MONDO:0015710 Orphanet:84064 Orphanet:169361 obsolete immune dysregulation disease with immunodeficiency -MONDO:0009105 trichohepatoenteric syndrome MONDO:0018782 Orphanet:84064 Orphanet:477647 obsolete type 1 interferonopathy -MONDO:0009105 trichohepatoenteric syndrome MONDO:0019126 Orphanet:84064 Orphanet:73014 obsolete intractable diarrhea of infancy -MONDO:0009105 trichohepatoenteric syndrome MONDO:0031697 Orphanet:84064 Orphanet:363300 obsolete genetic intractable diarrhea of infancy -MONDO:0009106 diastematomyelia MONDO:0035542 Orphanet:1671 Orphanet:573278 obsolete split cord malformation -MONDO:0009106 diastematomyelia MONDO:8000030 Orphanet:1671 Orphanet:377791 obsolete morphological anomaly -MONDO:0009107 diastrophic dysplasia MONDO:0018232 Orphanet:628 Orphanet:364536 obsolete primary bone dysplasia with micromelia -MONDO:0009107 diastrophic dysplasia MONDO:0019688 Orphanet:628 Orphanet:93423 obsolete sulfation-related bone disorder -MONDO:0009112 rhizomelic chondrodysplasia punctata type 2 MONDO:8000031 Orphanet:309796 Orphanet:557494 obsolete subtype of a disorder -MONDO:0009113 hemolytic anemia due to diphosphoglycerate mutase deficiency MONDO:0019602 Orphanet:714 Orphanet:91088 obsolete other inborn metabolic disease -MONDO:0009113 hemolytic anemia due to diphosphoglycerate mutase deficiency MONDO:0020106 Orphanet:714 Orphanet:98372 obsolete hemolytic anemia due to a disorder of glycolytic enzymes -MONDO:0009114 congenital sucrase-isomaltase deficiency MONDO:0015181 Orphanet:35122 Orphanet:104006 obsolete congenital intestinal disease due to an enzymatic defect -MONDO:0009115 congenital lactase deficiency MONDO:0015181 Orphanet:53690 Orphanet:104006 obsolete congenital intestinal disease due to an enzymatic defect -MONDO:0009120 diverticulosis of bowel, hernia, and retinal detachment MONDO:0015212 Orphanet:2464 Orphanet:108969 obsolete syndromic intestinal malformation -MONDO:0009120 diverticulosis of bowel, hernia, and retinal detachment MONDO:8000032 Orphanet:2464 Orphanet:377789 obsolete malformation syndrome -MONDO:0009121 von Voss-Cherstvoy syndrome MONDO:0043008 Orphanet:3439 Orphanet:330206 obsolete genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability -MONDO:0009121 von Voss-Cherstvoy syndrome MONDO:8000032 Orphanet:3439 Orphanet:377789 obsolete malformation syndrome -MONDO:0009123 orthostatic hypotension 1 MONDO:0019058 Orphanet:230 Orphanet:68385 obsolete neurometabolic disease -MONDO:0009123 orthostatic hypotension 1 MONDO:0020169 Orphanet:230 Orphanet:98578 obsolete rare disorder with ptosis -MONDO:0009124 Dubowitz syndrome MONDO:0015329 Orphanet:235 Orphanet:139021 obsolete malformation syndrome with short stature -MONDO:0009124 Dubowitz syndrome MONDO:0020169 Orphanet:235 Orphanet:98578 obsolete rare disorder with ptosis -MONDO:0009124 Dubowitz syndrome MONDO:0026187 Orphanet:235 Orphanet:183570 obsolete genetic malformation syndrome with short stature -MONDO:0009124 Dubowitz syndrome MONDO:0035863 Orphanet:235 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0009124 Dubowitz syndrome MONDO:8000032 Orphanet:235 Orphanet:377789 obsolete malformation syndrome -MONDO:0009126 duodenal atresia MONDO:0015209 Orphanet:1203 Orphanet:108963 obsolete non-syndromic gastroduodenal malformation -MONDO:0009126 duodenal atresia MONDO:0015211 Orphanet:1203 Orphanet:108967 obsolete non-syndromic intestinal malformation -MONDO:0009126 duodenal atresia MONDO:8000030 Orphanet:1203 Orphanet:377791 obsolete morphological anomaly -MONDO:0009130 Dyggve-Melchior-Clausen disease MONDO:0035863 Orphanet:239 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0009131 Riley-Day syndrome MONDO:0015366 Orphanet:1764 Orphanet:140477 obsolete autosomal recessive hereditary sensory and autonomic neuropathy -MONDO:0009131 Riley-Day syndrome MONDO:0018798 Orphanet:1764 Orphanet:477808 obsolete other genetic dermis disorder -MONDO:0009131 Riley-Day syndrome MONDO:0020194 Orphanet:1764 Orphanet:98604 obsolete congenital alacrima -MONDO:0009133 cerebellar ataxia, intellectual disability, and dysequilibrium MONDO:0035862 Orphanet:1766 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome -MONDO:0009138 dysosteosclerosis MONDO:8000032 Orphanet:1782 Orphanet:377789 obsolete malformation syndrome -MONDO:0009140 Silverman-Handmaker type dyssegmental dysplasia MONDO:0019689 Orphanet:1865 Orphanet:93424 obsolete perlecan-related bone disorder -MONDO:0009144 Ebstein anomaly MONDO:0018797 Orphanet:1880 Orphanet:477805 obsolete genetic cardiac malformation -MONDO:0009144 Ebstein anomaly MONDO:8000030 Orphanet:1880 Orphanet:377791 obsolete morphological anomaly -MONDO:0009145 SchC6pf-Schulz-Passarge syndrome MONDO:0015336 Orphanet:50944 Orphanet:139042 obsolete malformation syndrome with odontal and/or periodontal component -MONDO:0009145 SchC6pf-Schulz-Passarge syndrome MONDO:0015945 Orphanet:50944 Orphanet:183422 obsolete polymalformative genetic syndrome with increased risk of developing cancer -MONDO:0009145 SchC6pf-Schulz-Passarge syndrome MONDO:0017671 Orphanet:50944 Orphanet:307804 obsolete autosomal recessive disease with diffuse palmoplantar keratoderma as a major feature -MONDO:0009145 SchC6pf-Schulz-Passarge syndrome MONDO:0026190 Orphanet:50944 Orphanet:183580 obsolete genetic malformation syndrome with odontal and/or periodontal component -MONDO:0009146 ectodermal dysplasia-sensorineural deafness syndrome MONDO:0019589 Orphanet:1883 Orphanet:90642 obsolete syndromic genetic hearing loss -MONDO:0009146 ectodermal dysplasia-sensorineural deafness syndrome MONDO:8000032 Orphanet:1883 Orphanet:377789 obsolete malformation syndrome -MONDO:0009149 ectodermal dysplasia-intellectual disability-central nervous system malformation syndrome MONDO:0035863 Orphanet:1812 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0009149 ectodermal dysplasia-intellectual disability-central nervous system malformation syndrome MONDO:8000032 Orphanet:1812 Orphanet:377789 obsolete malformation syndrome -MONDO:0009150 hypohidrotic ectodermal dysplasia-hypothyroidism-ciliary dyskinesia syndrome MONDO:0015778 Orphanet:1882 Orphanet:177107 obsolete syndromic hypothyroidism -MONDO:0009150 hypohidrotic ectodermal dysplasia-hypothyroidism-ciliary dyskinesia syndrome MONDO:8000032 Orphanet:1882 Orphanet:377789 obsolete malformation syndrome -MONDO:0009151 cleft lip/palate-ectodermal dysplasia syndrome MONDO:0015335 Orphanet:3253 Orphanet:139039 obsolete Mendelian syndromes with cleft lip/palate -MONDO:0009151 cleft lip/palate-ectodermal dysplasia syndrome MONDO:0035862 Orphanet:3253 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome -MONDO:0009151 cleft lip/palate-ectodermal dysplasia syndrome MONDO:8000032 Orphanet:3253 Orphanet:377789 obsolete malformation syndrome -MONDO:0009155 EEM syndrome MONDO:0800090 Orphanet:1897 Orphanet:498477 obsolete ectrodactyly with and without other manifestations -MONDO:0009155 EEM syndrome MONDO:8000032 Orphanet:1897 Orphanet:377789 obsolete malformation syndrome -MONDO:0009156 ectrodactyly-polydactyly syndrome MONDO:0017434 Orphanet:1892 Orphanet:294959 obsolete syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy -MONDO:0009156 ectrodactyly-polydactyly syndrome MONDO:0800090 Orphanet:1892 Orphanet:498477 obsolete ectrodactyly with and without other manifestations -MONDO:0009156 ectrodactyly-polydactyly syndrome MONDO:8000032 Orphanet:1892 Orphanet:377789 obsolete malformation syndrome -MONDO:0009159 Ehlers-Danlos syndrome, cardiac valvular type MONDO:0015506 Orphanet:230851 Orphanet:156532 obsolete rare syndrome with cardiac malformations -MONDO:0009162 Ellis-van Creveld syndrome MONDO:0015506 Orphanet:289 Orphanet:156532 obsolete rare syndrome with cardiac malformations -MONDO:0009162 Ellis-van Creveld syndrome MONDO:0019721 Orphanet:289 Orphanet:93547 obsolete syndromic renal or urinary tract malformation -MONDO:0009162 Ellis-van Creveld syndrome MONDO:0022409 Orphanet:289 Orphanet:156162 obsolete nephropathy-associated ciliopathy -MONDO:0009162 Ellis-van Creveld syndrome MONDO:8000032 Orphanet:289 Orphanet:377789 obsolete malformation syndrome -MONDO:0009166 pontocerebellar hypoplasia type 4 MONDO:8000032 Orphanet:166063 Orphanet:377789 obsolete malformation syndrome -MONDO:0009167 Bonnemann-Meinecke-Reich syndrome MONDO:0035863 Orphanet:1261 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0009167 Bonnemann-Meinecke-Reich syndrome MONDO:8000032 Orphanet:1261 Orphanet:377789 obsolete malformation syndrome -MONDO:0009168 Fowler syndrome MONDO:0017120 Orphanet:221126 Orphanet:269531 obsolete other syndrome with a central nervous system malformation as major feature -MONDO:0009168 Fowler syndrome MONDO:8000032 Orphanet:221126 Orphanet:377789 obsolete malformation syndrome -MONDO:0009173 congenital enteropathy due to enteropeptidase deficiency MONDO:0015181 Orphanet:168601 Orphanet:104006 obsolete congenital intestinal disease due to an enzymatic defect -MONDO:0009174 protein-losing enteropathy MONDO:0015187 Orphanet:566175 Orphanet:104012 obsolete rare inflammatory bowel disease -MONDO:0009174 protein-losing enteropathy MONDO:0015616 Orphanet:566175 Orphanet:165655 obsolete rare genetic intestinal disease -MONDO:0009175 eosinophilic fasciitis MONDO:0019546 Orphanet:3165 Orphanet:90077 obsolete other acquired skin disease -MONDO:0009176 epidermodysplasia verruciformis MONDO:0018033 Orphanet:302 Orphanet:331193 obsolete other immunodeficiency syndromes due to defects in innate immunity -MONDO:0009176 epidermodysplasia verruciformis MONDO:0019305 Orphanet:302 Orphanet:79391 obsolete immune deficiency with skin involvement -MONDO:0009176 epidermodysplasia verruciformis MONDO:0026166 Orphanet:302 Orphanet:183494 obsolete genetic immune deficiency with skin involvement -MONDO:0009177 late-onset localized junctional epidermolysis bullosa-intellectual disability syndrome MONDO:0020014 Orphanet:231556 Orphanet:98027 obsolete rare disease with odontological manifestation -MONDO:0009177 late-onset localized junctional epidermolysis bullosa-intellectual disability syndrome MONDO:0035862 Orphanet:231556 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome -MONDO:0009181 epidermolysis bullosa simplex 5B, with muscular dystrophy MONDO:0015331 Orphanet:257 Orphanet:139027 obsolete malformation syndrome with skin/mucosae involvement -MONDO:0009181 epidermolysis bullosa simplex 5B, with muscular dystrophy MONDO:0035685 Orphanet:257 Orphanet:595351 obsolete epidermolysis bullosa simplex with extracutaneous involvement -MONDO:0009182 junctional epidermolysis bullosa Herlitz type MONDO:0020014 Orphanet:79404 Orphanet:98027 obsolete rare disease with odontological manifestation -MONDO:0009183 junctional epidermolysis bullosa with pyloric atresia MONDO:0020014 Orphanet:79403 Orphanet:98027 obsolete rare disease with odontological manifestation -MONDO:0009185 amelocerebrohypohidrotic syndrome MONDO:0015336 Orphanet:1946 Orphanet:139042 obsolete malformation syndrome with odontal and/or periodontal component -MONDO:0009185 amelocerebrohypohidrotic syndrome MONDO:0026190 Orphanet:1946 Orphanet:183580 obsolete genetic malformation syndrome with odontal and/or periodontal component -MONDO:0009185 amelocerebrohypohidrotic syndrome MONDO:0035862 Orphanet:1946 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome -MONDO:0009185 amelocerebrohypohidrotic syndrome MONDO:8000032 Orphanet:1946 Orphanet:377789 obsolete malformation syndrome -MONDO:0009187 celiac disease-epilepsy-cerebral calcification syndrome MONDO:0015657 Orphanet:1459 Orphanet:166484 obsolete inflammatory and autoimmune disease with epilepsy -MONDO:0009188 epilepsy-telangiectasia syndrome MONDO:0035863 Orphanet:1951 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0009189 multiple epiphyseal dysplasia type 4 MONDO:0019688 Orphanet:93307 Orphanet:93423 obsolete sulfation-related bone disorder -MONDO:0009191 Lowry-Wood syndrome MONDO:0019692 Orphanet:1824 Orphanet:93429 obsolete multiple epiphyseal dysplasia and pseudoachondroplasia -MONDO:0009192 Wolcott-Rallison syndrome MONDO:0015888 Orphanet:1667 Orphanet:181381 obsolete other rare diabetes mellitus -MONDO:0009192 Wolcott-Rallison syndrome MONDO:0035863 Orphanet:1667 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0009194 immunodeficiency 32B MONDO:0015576 Orphanet:2566 Orphanet:163585 obsolete rare viral disease -MONDO:0009196 ermine phenotype MONDO:0019589 Orphanet:999 Orphanet:90642 obsolete syndromic genetic hearing loss -MONDO:0009196 ermine phenotype MONDO:8000032 Orphanet:999 Orphanet:377789 obsolete malformation syndrome -MONDO:0009198 congenital lethal erythroderma MONDO:0019299 Orphanet:1954 Orphanet:79385 obsolete unclassified genetic skin disorder -MONDO:0009200 eyebrow duplication-syndactyly syndrome MONDO:0017434 Orphanet:3172 Orphanet:294959 obsolete syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy -MONDO:0009200 eyebrow duplication-syndactyly syndrome MONDO:8000032 Orphanet:3172 Orphanet:377789 obsolete malformation syndrome -MONDO:0009202 Thakker-Donnai syndrome MONDO:0018731 Orphanet:1780 Orphanet:459787 obsolete lethal multiple congenital anomalies/dysmorphic syndrome -MONDO:0009202 Thakker-Donnai syndrome MONDO:8000032 Orphanet:1780 Orphanet:377789 obsolete malformation syndrome -MONDO:0009203 focal facial dermal dysplasia type III MONDO:8000031 Orphanet:1807 Orphanet:557494 obsolete subtype of a disorder -MONDO:0009204 lethal faciocardiomelic dysplasia MONDO:0017432 Orphanet:1972 Orphanet:294955 obsolete syndrome with limb reduction defects -MONDO:0009204 lethal faciocardiomelic dysplasia MONDO:0018731 Orphanet:1972 Orphanet:459787 obsolete lethal multiple congenital anomalies/dysmorphic syndrome -MONDO:0009204 lethal faciocardiomelic dysplasia MONDO:8000032 Orphanet:1972 Orphanet:377789 obsolete malformation syndrome -MONDO:0009205 faciocardiorenal syndrome MONDO:0019721 Orphanet:1973 Orphanet:93547 obsolete syndromic renal or urinary tract malformation -MONDO:0009205 faciocardiorenal syndrome MONDO:0035863 Orphanet:1973 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0009205 faciocardiorenal syndrome MONDO:8000032 Orphanet:1973 Orphanet:377789 obsolete malformation syndrome -MONDO:0009209 autosomal recessive faciodigitogenital syndrome MONDO:0015329 Orphanet:1974 Orphanet:139021 obsolete malformation syndrome with short stature -MONDO:0009209 autosomal recessive faciodigitogenital syndrome MONDO:0015620 Orphanet:1974 Orphanet:165707 obsolete syndromic urogenital tract malformation -MONDO:0009209 autosomal recessive faciodigitogenital syndrome MONDO:0026187 Orphanet:1974 Orphanet:183570 obsolete genetic malformation syndrome with short stature -MONDO:0009209 autosomal recessive faciodigitogenital syndrome MONDO:0043008 Orphanet:1974 Orphanet:330206 obsolete genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability -MONDO:0009209 autosomal recessive faciodigitogenital syndrome MONDO:8000032 Orphanet:1974 Orphanet:377789 obsolete malformation syndrome -MONDO:0009210 congenital factor V deficiency MONDO:0019039 Orphanet:326 Orphanet:68334 obsolete rare hemorrhagic disorder due to a constitutional coagulation factors defect -MONDO:0009216 glycogen storage disease due to GLUT2 deficiency MONDO:0015115 Orphanet:2088 Orphanet:101940 obsolete rare genetic metabolic liver disease -MONDO:0009216 glycogen storage disease due to GLUT2 deficiency MONDO:0019743 Orphanet:2088 Orphanet:93593 obsolete nephropathy secondary to a storage or other metabolic disease -MONDO:0009218 Farber lipogranulomatosis MONDO:0015949 Orphanet:333 Orphanet:183484 obsolete rare genetic subcutaneous tissue disorder -MONDO:0009218 Farber lipogranulomatosis MONDO:0018299 Orphanet:333 Orphanet:371442 obsolete sphingolipidosis with epilepsy -MONDO:0009218 Farber lipogranulomatosis MONDO:0019058 Orphanet:333 Orphanet:68385 obsolete neurometabolic disease -MONDO:0009218 Farber lipogranulomatosis MONDO:0034953 Orphanet:333 Orphanet:519325 obsolete syndromic inherited retinal disorder -MONDO:0009218 Farber lipogranulomatosis MONDO:0035862 Orphanet:333 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome -MONDO:0009221 femur-fibula-ulna complex MONDO:0017433 Orphanet:2019 Orphanet:294957 obsolete dysostosis with combined reduction defects of upper and lower limbs -MONDO:0009221 femur-fibula-ulna complex MONDO:8000032 Orphanet:2019 Orphanet:377789 obsolete malformation syndrome -MONDO:0009222 Gollop-Wolfgang complex MONDO:0017432 Orphanet:1986 Orphanet:294955 obsolete syndrome with limb reduction defects -MONDO:0009222 Gollop-Wolfgang complex MONDO:0017433 Orphanet:1986 Orphanet:294957 obsolete dysostosis with combined reduction defects of upper and lower limbs -MONDO:0009222 Gollop-Wolfgang complex MONDO:0017434 Orphanet:1986 Orphanet:294959 obsolete syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy -MONDO:0009222 Gollop-Wolfgang complex MONDO:0800090 Orphanet:1986 Orphanet:498477 obsolete ectrodactyly with and without other manifestations -MONDO:0009222 Gollop-Wolfgang complex MONDO:8000032 Orphanet:1986 Orphanet:377789 obsolete malformation syndrome -MONDO:0009223 hypogonadotropic hypogonadism 23 with or without anosmia MONDO:8000031 Orphanet:325448 Orphanet:557494 obsolete subtype of a disorder -MONDO:0009224 fetal iodine syndrome MONDO:0015323 Orphanet:1910 Orphanet:138059 obsolete teratogenic Pierre Robin syndrome -MONDO:0009224 fetal iodine syndrome MONDO:8000032 Orphanet:1910 Orphanet:377789 obsolete malformation syndrome -MONDO:0009228 gingival fibromatosis-facial dysmorphism syndrome MONDO:0015336 Orphanet:2025 Orphanet:139042 obsolete malformation syndrome with odontal and/or periodontal component -MONDO:0009228 gingival fibromatosis-facial dysmorphism syndrome MONDO:0026190 Orphanet:2025 Orphanet:183580 obsolete genetic malformation syndrome with odontal and/or periodontal component -MONDO:0009228 gingival fibromatosis-facial dysmorphism syndrome MONDO:0043008 Orphanet:2025 Orphanet:330206 obsolete genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability -MONDO:0009228 gingival fibromatosis-facial dysmorphism syndrome MONDO:8000032 Orphanet:2025 Orphanet:377789 obsolete malformation syndrome -MONDO:0009229 hyaline fibromatosis syndrome MONDO:0800092 Orphanet:498474 Orphanet:498445 obsolete hereditary inflammatory or rheumatoid-like osteoarthropathy -MONDO:0009231 acromesomelic dysplasia 2B MONDO:0017432 Orphanet:2639 Orphanet:294955 obsolete syndrome with limb reduction defects -MONDO:0009231 acromesomelic dysplasia 2B MONDO:8000032 Orphanet:2639 Orphanet:377789 obsolete malformation syndrome -MONDO:0009232 Fuhrmann syndrome MONDO:0015335 Orphanet:2854 Orphanet:139039 obsolete Mendelian syndromes with cleft lip/palate -MONDO:0009232 Fuhrmann syndrome MONDO:0017432 Orphanet:2854 Orphanet:294955 obsolete syndrome with limb reduction defects -MONDO:0009232 Fuhrmann syndrome MONDO:0017434 Orphanet:2854 Orphanet:294959 obsolete syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy -MONDO:0009232 Fuhrmann syndrome MONDO:8000032 Orphanet:2854 Orphanet:377789 obsolete malformation syndrome -MONDO:0009233 Fibulo-ulnar hypoplasia-renal anomalies syndrome MONDO:0019721 Orphanet:2256 Orphanet:93547 obsolete syndromic renal or urinary tract malformation -MONDO:0009233 Fibulo-ulnar hypoplasia-renal anomalies syndrome MONDO:0043008 Orphanet:2256 Orphanet:330206 obsolete genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability -MONDO:0009233 Fibulo-ulnar hypoplasia-renal anomalies syndrome MONDO:8000032 Orphanet:2256 Orphanet:377789 obsolete malformation syndrome -MONDO:0009234 congenital high-molecular-weight kininogen deficiency MONDO:0019039 Orphanet:483 Orphanet:68334 obsolete rare hemorrhagic disorder due to a constitutional coagulation factors defect -MONDO:0009236 Kandori fleck retina MONDO:8000032 Orphanet:99179 Orphanet:377789 obsolete malformation syndrome -MONDO:0009238 hereditary folate malabsorption MONDO:0015179 Orphanet:90045 Orphanet:104004 obsolete intestinal disease due to vitamin absorption anomaly -MONDO:0009238 hereditary folate malabsorption MONDO:0018035 Orphanet:90045 Orphanet:331217 obsolete syndrome with combined immunodeficiency -MONDO:0009238 hereditary folate malabsorption MONDO:0020111 Orphanet:90045 Orphanet:98408 obsolete constitutional megaloblastic anemia due to folate metabolism disorder -MONDO:0009238 hereditary folate malabsorption MONDO:0035862 Orphanet:90045 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome -MONDO:0009239 hypogonadotropic hypogonadism 24 without anosmia MONDO:0018411 Orphanet:52901 Orphanet:400011 obsolete rare female infertility due to hypothalamic-pituitary-gonadal axis disorder of genetic origin -MONDO:0009240 formiminoglutamic aciduria MONDO:0020111 Orphanet:51208 Orphanet:98408 obsolete constitutional megaloblastic anemia due to folate metabolism disorder -MONDO:0009241 fountain syndrome MONDO:0019589 Orphanet:3219 Orphanet:90642 obsolete syndromic genetic hearing loss -MONDO:0009241 fountain syndrome MONDO:0035863 Orphanet:3219 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0009241 fountain syndrome MONDO:8000032 Orphanet:3219 Orphanet:377789 obsolete malformation syndrome -MONDO:0009242 brittle cornea syndrome MONDO:0020215 Orphanet:90354 Orphanet:98628 obsolete syndromic corneal dystrophy -MONDO:0009247 frontofacionasal dysplasia MONDO:0015334 Orphanet:1791 Orphanet:139036 obsolete branchial arch or oral-acral syndrome -MONDO:0009247 frontofacionasal dysplasia MONDO:0015412 Orphanet:1791 Orphanet:141234 obsolete median facial cleft -MONDO:0009247 frontofacionasal dysplasia MONDO:0020156 Orphanet:1791 Orphanet:98565 obsolete syndromic ankyloblepharon -MONDO:0009247 frontofacionasal dysplasia MONDO:0020157 Orphanet:1791 Orphanet:98566 obsolete syndromic palpebral coloboma -MONDO:0009247 frontofacionasal dysplasia MONDO:0026189 Orphanet:1791 Orphanet:183576 obsolete genetic branchial arch or oral-acral syndrome -MONDO:0009247 frontofacionasal dysplasia MONDO:0043008 Orphanet:1791 Orphanet:330206 obsolete genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability -MONDO:0009247 frontofacionasal dysplasia MONDO:8000032 Orphanet:1791 Orphanet:377789 obsolete malformation syndrome -MONDO:0009249 hereditary fructose intolerance MONDO:0015115 Orphanet:469 Orphanet:101940 obsolete rare genetic metabolic liver disease -MONDO:0009249 hereditary fructose intolerance MONDO:0015178 Orphanet:469 Orphanet:104003 obsolete congenital intestinal transport defect -MONDO:0009249 hereditary fructose intolerance MONDO:0019743 Orphanet:469 Orphanet:93593 obsolete nephropathy secondary to a storage or other metabolic disease -MONDO:0009253 Fryns syndrome MONDO:0015216 Orphanet:2059 Orphanet:108979 obsolete syndromic diaphragmatic or abdominal wall malformation -MONDO:0009253 Fryns syndrome MONDO:0035863 Orphanet:2059 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0009253 Fryns syndrome MONDO:8000032 Orphanet:2059 Orphanet:377789 obsolete malformation syndrome -MONDO:0009254 fucosidosis MONDO:0016326 Orphanet:349 Orphanet:217581 obsolete lysosomal disease with hypertrophic cardiomyopathy -MONDO:0009254 fucosidosis MONDO:0035862 Orphanet:349 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome -MONDO:0009257 galactose epimerase deficiency MONDO:0015115 Orphanet:79238 Orphanet:101940 obsolete rare genetic metabolic liver disease -MONDO:0009258 classic galactosemia MONDO:0015115 Orphanet:79239 Orphanet:101940 obsolete rare genetic metabolic liver disease -MONDO:0009258 classic galactosemia MONDO:0018401 Orphanet:79239 Orphanet:399853 obsolete female infertility due to an anomaly of ovarian function -MONDO:0009258 classic galactosemia MONDO:0018413 Orphanet:79239 Orphanet:400022 obsolete female infertility due to an anomaly of ovarian function of genetic origin -MONDO:0009258 classic galactosemia MONDO:0034443 Orphanet:79239 Orphanet:485382 obsolete genetic non-acquired premature ovarian failure -MONDO:0009258 classic galactosemia MONDO:0035862 Orphanet:79239 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome -MONDO:0009259 gamma-glutamylcysteine synthetase deficiency MONDO:0020105 Orphanet:33574 Orphanet:98370 obsolete hemolytic anemia due to hexose monophosphate shunt and glutathione metabolism anomalies -MONDO:0009260 GM1 gangliosidosis type 1 MONDO:0034953 Orphanet:79255 Orphanet:519325 obsolete syndromic inherited retinal disorder -MONDO:0009260 GM1 gangliosidosis type 1 MONDO:0034961 Orphanet:79255 Orphanet:519341 obsolete rare brainstem or cerebellar disorder with ophthalmic involvement as a major feature -MONDO:0009260 GM1 gangliosidosis type 1 MONDO:8000031 Orphanet:79255 Orphanet:557494 obsolete subtype of a disorder -MONDO:0009261 GM1 gangliosidosis type 2 MONDO:0034961 Orphanet:79256 Orphanet:519341 obsolete rare brainstem or cerebellar disorder with ophthalmic involvement as a major feature -MONDO:0009261 GM1 gangliosidosis type 2 MONDO:8000031 Orphanet:79256 Orphanet:557494 obsolete subtype of a disorder -MONDO:0009262 GM1 gangliosidosis type 3 MONDO:8000031 Orphanet:79257 Orphanet:557494 obsolete subtype of a disorder -MONDO:0009263 GAPO syndrome MONDO:0015336 Orphanet:2067 Orphanet:139042 obsolete malformation syndrome with odontal and/or periodontal component -MONDO:0009263 GAPO syndrome MONDO:0018609 Orphanet:2067 Orphanet:441434 obsolete syndromic hereditary optic neuropathy -MONDO:0009263 GAPO syndrome MONDO:0020211 Orphanet:2067 Orphanet:98623 obsolete syndromic keratoconus -MONDO:0009263 GAPO syndrome MONDO:0026190 Orphanet:2067 Orphanet:183580 obsolete genetic malformation syndrome with odontal and/or periodontal component -MONDO:0009263 GAPO syndrome MONDO:0035863 Orphanet:2067 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0009263 GAPO syndrome MONDO:8000032 Orphanet:2067 Orphanet:377789 obsolete malformation syndrome -MONDO:0009264 gastroschisis MONDO:0015215 Orphanet:2368 Orphanet:108977 obsolete non-syndromic diaphragmatic or abdominal wall malformation -MONDO:0009264 gastroschisis MONDO:0018241 Orphanet:2368 Orphanet:365563 obsolete primary short bowel syndrome -MONDO:0009264 gastroschisis MONDO:8000030 Orphanet:2368 Orphanet:377791 obsolete morphological anomaly -MONDO:0009265 Gaucher disease type I MONDO:0016341 Orphanet:77259 Orphanet:217638 obsolete lysosomal disease with restrictive cardiomyopathy -MONDO:0009265 Gaucher disease type I MONDO:0017037 Orphanet:77259 Orphanet:264968 obsolete secondary interstitial lung disease in childhood and adulthood associated with a metabolic disease -MONDO:0009265 Gaucher disease type I MONDO:0018377 Orphanet:77259 Orphanet:399185 obsolete rare hereditary disease with avascular necrosis -MONDO:0009265 Gaucher disease type I MONDO:0034953 Orphanet:77259 Orphanet:519325 obsolete syndromic inherited retinal disorder -MONDO:0009265 Gaucher disease type I MONDO:8000031 Orphanet:77259 Orphanet:557494 obsolete subtype of a disorder -MONDO:0009266 Gaucher disease type II MONDO:0017024 Orphanet:77260 Orphanet:264719 obsolete secondary interstitial lung disease specific to childhood associated with a metabolic disease -MONDO:0009266 Gaucher disease type II MONDO:0018299 Orphanet:77260 Orphanet:371442 obsolete sphingolipidosis with epilepsy -MONDO:0009266 Gaucher disease type II MONDO:0019058 Orphanet:77260 Orphanet:68385 obsolete neurometabolic disease -MONDO:0009266 Gaucher disease type II MONDO:0020253 Orphanet:77260 Orphanet:98683 obsolete syndrome with a symptomatic strabismus -MONDO:0009266 Gaucher disease type II MONDO:8000031 Orphanet:77260 Orphanet:557494 obsolete subtype of a disorder -MONDO:0009267 Gaucher disease type III MONDO:0017024 Orphanet:77261 Orphanet:264719 obsolete secondary interstitial lung disease specific to childhood associated with a metabolic disease -MONDO:0009267 Gaucher disease type III MONDO:0018299 Orphanet:77261 Orphanet:371442 obsolete sphingolipidosis with epilepsy -MONDO:0009267 Gaucher disease type III MONDO:0018377 Orphanet:77261 Orphanet:399185 obsolete rare hereditary disease with avascular necrosis -MONDO:0009267 Gaucher disease type III MONDO:0019058 Orphanet:77261 Orphanet:68385 obsolete neurometabolic disease -MONDO:0009267 Gaucher disease type III MONDO:0020258 Orphanet:77261 Orphanet:98688 obsolete oculomotor apraxia or related oculomotor disease -MONDO:0009267 Gaucher disease type III MONDO:0034961 Orphanet:77261 Orphanet:519341 obsolete rare brainstem or cerebellar disorder with ophthalmic involvement as a major feature -MONDO:0009267 Gaucher disease type III MONDO:8000031 Orphanet:77261 Orphanet:557494 obsolete subtype of a disorder -MONDO:0009268 Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome MONDO:0020258 Orphanet:2072 Orphanet:98688 obsolete oculomotor apraxia or related oculomotor disease -MONDO:0009268 Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome MONDO:8000031 Orphanet:2072 Orphanet:557494 obsolete subtype of a disorder -MONDO:0009270 genito-palato-cardiac syndrome MONDO:0015335 Orphanet:2075 Orphanet:139039 obsolete Mendelian syndromes with cleft lip/palate -MONDO:0009270 genito-palato-cardiac syndrome MONDO:0020042 Orphanet:2075 Orphanet:98087 obsolete syndrome with 46,XY disorder of sex development -MONDO:0009270 genito-palato-cardiac syndrome MONDO:0043008 Orphanet:2075 Orphanet:330206 obsolete genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability -MONDO:0009270 genito-palato-cardiac syndrome MONDO:8000032 Orphanet:2075 Orphanet:377789 obsolete malformation syndrome -MONDO:0009271 geroderma osteodysplastica MONDO:0019704 Orphanet:2078 Orphanet:93446 obsolete primary bone dysplasia with decreased bone density -MONDO:0009271 geroderma osteodysplastica MONDO:8000032 Orphanet:2078 Orphanet:377789 obsolete malformation syndrome -MONDO:0009272 German syndrome MONDO:0018731 Orphanet:2077 Orphanet:459787 obsolete lethal multiple congenital anomalies/dysmorphic syndrome -MONDO:0009272 German syndrome MONDO:8000032 Orphanet:2077 Orphanet:377789 obsolete malformation syndrome -MONDO:0009274 ghosal hematodiaphyseal dysplasia MONDO:0800084 Orphanet:1802 Orphanet:93444 obsolete primary bone dysplasia with increased bone density -MONDO:0009274 ghosal hematodiaphyseal dysplasia MONDO:8000032 Orphanet:1802 Orphanet:377789 obsolete malformation syndrome -MONDO:0009275 neonatal hemochromatosis MONDO:0015115 Orphanet:446 Orphanet:101940 obsolete rare genetic metabolic liver disease -MONDO:0009276 Bernard-Soulier syndrome MONDO:0016361 Orphanet:274 Orphanet:220452 obsolete isolated hereditary giant platelet disorder -MONDO:0009277 glaucoma 3A MONDO:0015485 Orphanet:98976 Orphanet:156005 obsolete primary hereditary glaucoma -MONDO:0009279 triple-A syndrome MONDO:0015208 Orphanet:869 Orphanet:108961 obsolete syndromic esophageal malformation -MONDO:0009279 triple-A syndrome MONDO:0016132 Orphanet:869 Orphanet:207015 obsolete rare hereditary disease with peripheral neuropathy -MONDO:0009279 triple-A syndrome MONDO:0020194 Orphanet:869 Orphanet:98604 obsolete congenital alacrima -MONDO:0009279 triple-A syndrome MONDO:0020999 Orphanet:869 Orphanet:101960 obsolete genetic chronic primary adrenal insufficiency -MONDO:0009279 triple-A syndrome MONDO:0031952 Orphanet:869 Orphanet:371445 obsolete genetic syndromic esophageal malformation -MONDO:0009279 triple-A syndrome MONDO:0035862 Orphanet:869 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome -MONDO:0009281 glutaryl-CoA dehydrogenase deficiency MONDO:0019058 Orphanet:25 Orphanet:68385 obsolete neurometabolic disease -MONDO:0009281 glutaryl-CoA dehydrogenase deficiency MONDO:0019213 Orphanet:25 Orphanet:79158 obsolete cerebral organic aciduria -MONDO:0009282 multiple acyl-CoA dehydrogenase deficiency MONDO:0016117 Orphanet:26791 Orphanet:206953 obsolete muscular lipidosis -MONDO:0009282 multiple acyl-CoA dehydrogenase deficiency MONDO:0016328 Orphanet:26791 Orphanet:217591 obsolete fatty acid oxidation and ketogenesis disorder with hypertrophic cardiomyopathy -MONDO:0009283 glutaric acidemia type 3 MONDO:0016401 Orphanet:35706 Orphanet:225696 obsolete energy metabolism disorder with epilepsy -MONDO:0009283 glutaric acidemia type 3 MONDO:0017753 Orphanet:35706 Orphanet:309810 obsolete disorder of peroxisomal alpha-, beta- and omega-oxidation -MONDO:0009284 glutathione synthetase deficiency without 5-oxoprolinuria MONDO:8000031 Orphanet:289849 Orphanet:557494 obsolete subtype of a disorder -MONDO:0009287 glycogen storage disease due to glucose-6-phosphatase deficiency type IA MONDO:8000031 Orphanet:79258 Orphanet:557494 obsolete subtype of a disorder -MONDO:0009288 glycogen storage disease Ib MONDO:0018032 Orphanet:79259 Orphanet:331184 obsolete constitutional neutropenia with extra-hematopoietic manifestations -MONDO:0009288 glycogen storage disease Ib MONDO:8000031 Orphanet:79259 Orphanet:557494 obsolete subtype of a disorder -MONDO:0009290 glycogen storage disease II MONDO:0016118 Orphanet:365 Orphanet:206959 obsolete muscular glycogenosis -MONDO:0009290 glycogen storage disease II MONDO:0016325 Orphanet:365 Orphanet:217572 obsolete glycogen storage disease with hypertrophic cardiomyopathy -MONDO:0009290 glycogen storage disease II MONDO:0016326 Orphanet:365 Orphanet:217581 obsolete lysosomal disease with hypertrophic cardiomyopathy -MONDO:0009290 glycogen storage disease II MONDO:0016341 Orphanet:365 Orphanet:217638 obsolete lysosomal disease with restrictive cardiomyopathy -MONDO:0009291 glycogen storage disease III MONDO:0015115 Orphanet:366 Orphanet:101940 obsolete rare genetic metabolic liver disease -MONDO:0009291 glycogen storage disease III MONDO:0016118 Orphanet:366 Orphanet:206959 obsolete muscular glycogenosis -MONDO:0009291 glycogen storage disease III MONDO:0016325 Orphanet:366 Orphanet:217572 obsolete glycogen storage disease with hypertrophic cardiomyopathy -MONDO:0009292 glycogen storage disease due to glycogen branching enzyme deficiency MONDO:0015115 Orphanet:367 Orphanet:101940 obsolete rare genetic metabolic liver disease -MONDO:0009292 glycogen storage disease due to glycogen branching enzyme deficiency MONDO:0016118 Orphanet:367 Orphanet:206959 obsolete muscular glycogenosis -MONDO:0009293 glycogen storage disease V MONDO:0016118 Orphanet:368 Orphanet:206959 obsolete muscular glycogenosis -MONDO:0009294 glycogen storage disease VI MONDO:0015115 Orphanet:369 Orphanet:101940 obsolete rare genetic metabolic liver disease -MONDO:0009295 glycogen storage disease VII MONDO:0016118 Orphanet:371 Orphanet:206959 obsolete muscular glycogenosis -MONDO:0009295 glycogen storage disease VII MONDO:0020106 Orphanet:371 Orphanet:98372 obsolete hemolytic anemia due to a disorder of glycolytic enzymes -MONDO:0009297 familial renal glucosuria MONDO:0019743 Orphanet:69076 Orphanet:93593 obsolete nephropathy secondary to a storage or other metabolic disease -MONDO:0009299 46 XX gonadal dysgenesis MONDO:0017961 Orphanet:243 Orphanet:325055 obsolete 46,XX disorder of gonadal development -MONDO:0009299 46 XX gonadal dysgenesis MONDO:0018402 Orphanet:243 Orphanet:399877 obsolete female infertility due to gonadal dysgenesis -MONDO:0009299 46 XX gonadal dysgenesis MONDO:0020038 Orphanet:243 Orphanet:98074 obsolete gonadal dysgenesis of gynecological interest -MONDO:0009299 46 XX gonadal dysgenesis MONDO:0034443 Orphanet:243 Orphanet:485382 obsolete genetic non-acquired premature ovarian failure -MONDO:0009299 46 XX gonadal dysgenesis MONDO:8000032 Orphanet:243 Orphanet:377789 obsolete malformation syndrome -MONDO:0009300 Perrault syndrome 1 MONDO:8000031 Orphanet:642945 Orphanet:557494 obsolete subtype of a disorder -MONDO:0009302 XY type gonadal dysgenesis-associated anomalies syndrome MONDO:0017978 Orphanet:1770 Orphanet:325638 obsolete syndrome with disorder of sex development of gynecological interest -MONDO:0009302 XY type gonadal dysgenesis-associated anomalies syndrome MONDO:0020042 Orphanet:1770 Orphanet:98087 obsolete syndrome with 46,XY disorder of sex development -MONDO:0009302 XY type gonadal dysgenesis-associated anomalies syndrome MONDO:8000032 Orphanet:1770 Orphanet:377789 obsolete malformation syndrome -MONDO:0009303 anti-glomerular basement membrane disease MONDO:0015490 Orphanet:375 Orphanet:156146 obsolete predominantly small-vessel vasculitis -MONDO:0009303 anti-glomerular basement membrane disease MONDO:0017035 Orphanet:375 Orphanet:264949 obsolete secondary interstitial lung disease in childhood and adulthood associated with a systemic disease -MONDO:0009306 combined immunodeficiency with skin granulomas MONDO:0019305 Orphanet:157949 Orphanet:79391 obsolete immune deficiency with skin involvement -MONDO:0009306 combined immunodeficiency with skin granulomas MONDO:0026166 Orphanet:157949 Orphanet:183494 obsolete genetic immune deficiency with skin involvement -MONDO:0009313 Grubben-de Cock-Borghgraef syndrome MONDO:0035863 Orphanet:2101 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0009313 Grubben-de Cock-Borghgraef syndrome MONDO:8000032 Orphanet:2101 Orphanet:377789 obsolete malformation syndrome -MONDO:0009315 congenital factor XII deficiency MONDO:0016633 Orphanet:330 Orphanet:248361 obsolete thrombotic disorder due to a constitutional coagulation factors defect -MONDO:0009318 Hallermann-Streiff syndrome MONDO:0015329 Orphanet:2108 Orphanet:139021 obsolete malformation syndrome with short stature -MONDO:0009318 Hallermann-Streiff syndrome MONDO:0019699 Orphanet:2108 Orphanet:93440 obsolete slender bone dysplasia -MONDO:0009318 Hallermann-Streiff syndrome MONDO:0020234 Orphanet:2108 Orphanet:98650 obsolete craniofacial anomaly with cataract -MONDO:0009318 Hallermann-Streiff syndrome MONDO:0026187 Orphanet:2108 Orphanet:183570 obsolete genetic malformation syndrome with short stature -MONDO:0009318 Hallermann-Streiff syndrome MONDO:0035863 Orphanet:2108 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0009318 Hallermann-Streiff syndrome MONDO:8000032 Orphanet:2108 Orphanet:377789 obsolete malformation syndrome -MONDO:0009319 pantothenate kinase-associated neurodegeneration MONDO:0017760 Orphanet:157850 Orphanet:309833 obsolete disorder of other vitamins and cofactors metabolism and transport -MONDO:0009319 pantothenate kinase-associated neurodegeneration MONDO:0018118 Orphanet:157850 Orphanet:352306 obsolete disorder of phospholipids, sphingolipids and fatty acids biosynthesis with central nervous system predominant involvement -MONDO:0009319 pantothenate kinase-associated neurodegeneration MONDO:0034953 Orphanet:157850 Orphanet:519325 obsolete syndromic inherited retinal disorder -MONDO:0009320 Hall-Riggs syndrome MONDO:0035863 Orphanet:2107 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0009320 Hall-Riggs syndrome MONDO:8000032 Orphanet:2107 Orphanet:377789 obsolete malformation syndrome -MONDO:0009321 hallux varus-preaxial polysyndactyly syndrome MONDO:0017434 Orphanet:2110 Orphanet:294959 obsolete syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy -MONDO:0009321 hallux varus-preaxial polysyndactyly syndrome MONDO:8000032 Orphanet:2110 Orphanet:377789 obsolete malformation syndrome -MONDO:0009324 Hartnup disease MONDO:0019058 Orphanet:2116 Orphanet:68385 obsolete neurometabolic disease -MONDO:0009324 Hartnup disease MONDO:0019304 Orphanet:2116 Orphanet:79390 obsolete rare photodermatosis -MONDO:0009324 Hartnup disease MONDO:0019743 Orphanet:2116 Orphanet:93593 obsolete nephropathy secondary to a storage or other metabolic disease -MONDO:0009324 Hartnup disease MONDO:0035862 Orphanet:2116 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome -MONDO:0009326 congenital heart block MONDO:0015110 Orphanet:60041 Orphanet:101934 obsolete genetic cardiac rhythm disease -MONDO:0009331 isolated hemihyperplasia MONDO:0015945 Orphanet:2128 Orphanet:183422 obsolete polymalformative genetic syndrome with increased risk of developing cancer -MONDO:0009331 isolated hemihyperplasia MONDO:8000030 Orphanet:2128 Orphanet:377791 obsolete morphological anomaly -MONDO:0009333 mullerian derivatives-lymphangiectasia-polydactyly syndrome MONDO:0015620 Orphanet:1655 Orphanet:165707 obsolete syndromic urogenital tract malformation -MONDO:0009333 mullerian derivatives-lymphangiectasia-polydactyly syndrome MONDO:0035471 Orphanet:1655 Orphanet:568047 obsolete disorder with multisystemic involvement and primary lymphedema -MONDO:0009333 mullerian derivatives-lymphangiectasia-polydactyly syndrome MONDO:0043008 Orphanet:1655 Orphanet:330206 obsolete genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability -MONDO:0009333 mullerian derivatives-lymphangiectasia-polydactyly syndrome MONDO:8000032 Orphanet:1655 Orphanet:377789 obsolete malformation syndrome -MONDO:0009338 hepatic veno-occlusive disease-immunodeficiency syndrome MONDO:0015113 Orphanet:79124 Orphanet:101938 obsolete rare vascular liver disease -MONDO:0009338 hepatic veno-occlusive disease-immunodeficiency syndrome MONDO:0015507 Orphanet:79124 Orphanet:156601 obsolete rare genetic hepatic disease -MONDO:0009338 hepatic veno-occlusive disease-immunodeficiency syndrome MONDO:0018035 Orphanet:79124 Orphanet:331217 obsolete syndrome with combined immunodeficiency -MONDO:0009340 non-spherocytic hemolytic anemia due to hexokinase deficiency MONDO:0020106 Orphanet:90031 Orphanet:98372 obsolete hemolytic anemia due to a disorder of glycolytic enzymes -MONDO:0009341 Mowat-Wilson syndrome MONDO:0035340 Orphanet:2152 Orphanet:557866 obsolete rare disorder with hirschsprung disease as a major feature -MONDO:0009341 Mowat-Wilson syndrome MONDO:0035863 Orphanet:2152 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0009341 Mowat-Wilson syndrome MONDO:8000032 Orphanet:2152 Orphanet:377789 obsolete malformation syndrome -MONDO:0009342 Hirschsprung disease-hearing loss-polydactyly syndrome MONDO:0015184 Orphanet:2155 Orphanet:104009 obsolete rare disease involving intestinal motility -MONDO:0009342 Hirschsprung disease-hearing loss-polydactyly syndrome MONDO:0019589 Orphanet:2155 Orphanet:90642 obsolete syndromic genetic hearing loss -MONDO:0009342 Hirschsprung disease-hearing loss-polydactyly syndrome MONDO:0035340 Orphanet:2155 Orphanet:557866 obsolete rare disorder with hirschsprung disease as a major feature -MONDO:0009342 Hirschsprung disease-hearing loss-polydactyly syndrome MONDO:0043008 Orphanet:2155 Orphanet:330206 obsolete genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability -MONDO:0009342 Hirschsprung disease-hearing loss-polydactyly syndrome MONDO:8000032 Orphanet:2155 Orphanet:377789 obsolete malformation syndrome -MONDO:0009344 Hirschsprung disease-nail hypoplasia-dysmorphism syndrome MONDO:0015184 Orphanet:2153 Orphanet:104009 obsolete rare disease involving intestinal motility -MONDO:0009344 Hirschsprung disease-nail hypoplasia-dysmorphism syndrome MONDO:0019285 Orphanet:2153 Orphanet:79370 obsolete syndromic nail anomaly -MONDO:0009344 Hirschsprung disease-nail hypoplasia-dysmorphism syndrome MONDO:0035340 Orphanet:2153 Orphanet:557866 obsolete rare disorder with hirschsprung disease as a major feature -MONDO:0009344 Hirschsprung disease-nail hypoplasia-dysmorphism syndrome MONDO:8000032 Orphanet:2153 Orphanet:377789 obsolete malformation syndrome -MONDO:0009349 holoprosencephaly 1 MONDO:0016054 Orphanet:268936 Orphanet:199633 obsolete cerebral malformation -MONDO:0009349 holoprosencephaly 1 MONDO:8000030 Orphanet:268936 Orphanet:377791 obsolete morphological anomaly -MONDO:0009350 Holzgreve-Wagner-Rehder syndrome MONDO:0015335 Orphanet:2167 Orphanet:139039 obsolete Mendelian syndromes with cleft lip/palate -MONDO:0009350 Holzgreve-Wagner-Rehder syndrome MONDO:0043008 Orphanet:2167 Orphanet:330206 obsolete genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability -MONDO:0009350 Holzgreve-Wagner-Rehder syndrome MONDO:8000032 Orphanet:2167 Orphanet:377789 obsolete malformation syndrome -MONDO:0009352 classic homocystinuria MONDO:0016399 Orphanet:394 Orphanet:225689 obsolete amino acid or protein metabolism disease with epilepsy -MONDO:0009352 classic homocystinuria MONDO:0019058 Orphanet:394 Orphanet:68385 obsolete neurometabolic disease -MONDO:0009352 classic homocystinuria MONDO:0020222 Orphanet:394 Orphanet:98638 obsolete rare disease with glaucoma as a major feature -MONDO:0009352 classic homocystinuria MONDO:0020228 Orphanet:394 Orphanet:98644 obsolete cataract associated with a metabolic disease -MONDO:0009352 classic homocystinuria MONDO:0034937 Orphanet:394 Orphanet:519292 obsolete syndromic ectopia lentis -MONDO:0009352 classic homocystinuria MONDO:0035862 Orphanet:394 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome -MONDO:0009353 homocystinuria due to methylene tetrahydrofolate reductase deficiency MONDO:0016133 Orphanet:395 Orphanet:207018 obsolete rare hereditary metabolic disease with peripheral neuropathy -MONDO:0009353 homocystinuria due to methylene tetrahydrofolate reductase deficiency MONDO:0016406 Orphanet:395 Orphanet:225713 obsolete other metabolic disease with epilepsy -MONDO:0009354 methylcobalamin deficiency type cblE MONDO:0035862 Orphanet:2169 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome -MONDO:0009354 methylcobalamin deficiency type cblE MONDO:8000031 Orphanet:2169 Orphanet:557494 obsolete subtype of a disorder -MONDO:0009359 multinucleated neurons-anhydramnios-renal dysplasia-cerebellar hypoplasia-hydranencephaly syndrome MONDO:0015620 Orphanet:500135 Orphanet:165707 obsolete syndromic urogenital tract malformation -MONDO:0009359 multinucleated neurons-anhydramnios-renal dysplasia-cerebellar hypoplasia-hydranencephaly syndrome MONDO:0017120 Orphanet:500135 Orphanet:269531 obsolete other syndrome with a central nervous system malformation as major feature -MONDO:0009359 multinucleated neurons-anhydramnios-renal dysplasia-cerebellar hypoplasia-hydranencephaly syndrome MONDO:0018731 Orphanet:500135 Orphanet:459787 obsolete lethal multiple congenital anomalies/dysmorphic syndrome -MONDO:0009359 multinucleated neurons-anhydramnios-renal dysplasia-cerebellar hypoplasia-hydranencephaly syndrome MONDO:0019721 Orphanet:500135 Orphanet:93547 obsolete syndromic renal or urinary tract malformation -MONDO:0009359 multinucleated neurons-anhydramnios-renal dysplasia-cerebellar hypoplasia-hydranencephaly syndrome MONDO:0022409 Orphanet:500135 Orphanet:156162 obsolete nephropathy-associated ciliopathy -MONDO:0009359 multinucleated neurons-anhydramnios-renal dysplasia-cerebellar hypoplasia-hydranencephaly syndrome MONDO:8000032 Orphanet:500135 Orphanet:377789 obsolete malformation syndrome -MONDO:0009362 growth delay-hydrocephaly-lung hypoplasia syndrome MONDO:0015222 Orphanet:3035 Orphanet:108995 obsolete syndromic respiratory or mediastinal malformation -MONDO:0009362 growth delay-hydrocephaly-lung hypoplasia syndrome MONDO:0015930 Orphanet:3035 Orphanet:182111 obsolete respiratory malformation -MONDO:0009362 growth delay-hydrocephaly-lung hypoplasia syndrome MONDO:0026203 Orphanet:3035 Orphanet:183622 obsolete genetic respiratory malformation -MONDO:0009362 growth delay-hydrocephaly-lung hypoplasia syndrome MONDO:8000032 Orphanet:3035 Orphanet:377789 obsolete malformation syndrome -MONDO:0009363 hydrocephaly-tall stature-joint laxity syndrome MONDO:0043008 Orphanet:2181 Orphanet:330206 obsolete genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability -MONDO:0009363 hydrocephaly-tall stature-joint laxity syndrome MONDO:8000032 Orphanet:2181 Orphanet:377789 obsolete malformation syndrome -MONDO:0009367 McKusick-Kaufman syndrome MONDO:0022407 Orphanet:2473 Orphanet:156183 obsolete retinal ciliopathy due to mutation in Bardet-Biedl gene -MONDO:0009367 McKusick-Kaufman syndrome MONDO:0022409 Orphanet:2473 Orphanet:156162 obsolete nephropathy-associated ciliopathy -MONDO:0009367 McKusick-Kaufman syndrome MONDO:0043008 Orphanet:2473 Orphanet:330206 obsolete genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability -MONDO:0009367 McKusick-Kaufman syndrome MONDO:8000032 Orphanet:2473 Orphanet:377789 obsolete malformation syndrome -MONDO:0009369 non-immune hydrops fetalis MONDO:0015960 Orphanet:363999 Orphanet:183530 obsolete rare genetic developmental defect during embryogenesis -MONDO:0009369 non-immune hydrops fetalis MONDO:8000031 Orphanet:363999 Orphanet:557494 obsolete subtype of a disorder -MONDO:0009370 L-2-hydroxyglutaric aciduria MONDO:0035862 Orphanet:79314 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome -MONDO:0009372 encephalopathy due to hydroxykynureninuria MONDO:0019058 Orphanet:79155 Orphanet:68385 obsolete neurometabolic disease -MONDO:0009373 seizures-intellectual disability due to hydroxylysinuria syndrome MONDO:0019058 Orphanet:79156 Orphanet:68385 obsolete neurometabolic disease -MONDO:0009373 seizures-intellectual disability due to hydroxylysinuria syndrome MONDO:0035863 Orphanet:79156 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0009377 hyperammonemia due to N-acetylglutamate synthase deficiency MONDO:0035862 Orphanet:927 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome -MONDO:0009378 hyper-beta-alaninemia MONDO:0016399 Orphanet:309147 Orphanet:225689 obsolete amino acid or protein metabolism disease with epilepsy -MONDO:0009379 Rotor syndrome MONDO:0015115 Orphanet:3111 Orphanet:101940 obsolete rare genetic metabolic liver disease -MONDO:0009380 Dubin-Johnson syndrome MONDO:0015115 Orphanet:234 Orphanet:101940 obsolete rare genetic metabolic liver disease -MONDO:0009383 transient familial neonatal hyperbilirubinemia MONDO:0015507 Orphanet:2312 Orphanet:156601 obsolete rare genetic hepatic disease -MONDO:0009383 transient familial neonatal hyperbilirubinemia MONDO:0018928 Orphanet:2312 Orphanet:57146 obsolete rare hepatic disease -MONDO:0009387 familial lipoprotein lipase deficiency MONDO:8000031 Orphanet:309015 Orphanet:557494 obsolete subtype of a disorder -MONDO:0009393 ornithine translocase deficiency MONDO:0035862 Orphanet:415 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome -MONDO:0009394 juvenile Paget disease MONDO:0800084 Orphanet:2801 Orphanet:93444 obsolete primary bone dysplasia with increased bone density -MONDO:0009394 juvenile Paget disease MONDO:8000032 Orphanet:2801 Orphanet:377789 obsolete malformation syndrome -MONDO:0009395 hyperostosis corticalis generalisata MONDO:0800084 Orphanet:3416 Orphanet:93444 obsolete primary bone dysplasia with increased bone density -MONDO:0009395 hyperostosis corticalis generalisata MONDO:8000032 Orphanet:3416 Orphanet:377789 obsolete malformation syndrome -MONDO:0009397 neonatal severe primary hyperparathyroidism MONDO:0015897 Orphanet:417 Orphanet:181408 obsolete rare hyperparathyroidism -MONDO:0009397 neonatal severe primary hyperparathyroidism MONDO:0019705 Orphanet:417 Orphanet:93447 obsolete primary bone dysplasia with defective bone mineralization -MONDO:0009400 hyperprolinemia type 1 MONDO:0016399 Orphanet:419 Orphanet:225689 obsolete amino acid or protein metabolism disease with epilepsy -MONDO:0009400 hyperprolinemia type 1 MONDO:0019058 Orphanet:419 Orphanet:68385 obsolete neurometabolic disease -MONDO:0009400 hyperprolinemia type 1 MONDO:0035862 Orphanet:419 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome -MONDO:0009401 hyperprolinemia type 2 MONDO:0016399 Orphanet:79101 Orphanet:225689 obsolete amino acid or protein metabolism disease with epilepsy -MONDO:0009401 hyperprolinemia type 2 MONDO:0019058 Orphanet:79101 Orphanet:68385 obsolete neurometabolic disease -MONDO:0009402 acrofrontofacionasal dysostosis 2 MONDO:0015620 Orphanet:2211 Orphanet:165707 obsolete syndromic urogenital tract malformation -MONDO:0009402 acrofrontofacionasal dysostosis 2 MONDO:0043008 Orphanet:2211 Orphanet:330206 obsolete genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability -MONDO:0009402 acrofrontofacionasal dysostosis 2 MONDO:8000032 Orphanet:2211 Orphanet:377789 obsolete malformation syndrome -MONDO:0009404 hypertelorism, microtia, facial clefting syndrome MONDO:0015334 Orphanet:2213 Orphanet:139036 obsolete branchial arch or oral-acral syndrome -MONDO:0009404 hypertelorism, microtia, facial clefting syndrome MONDO:0015335 Orphanet:2213 Orphanet:139039 obsolete Mendelian syndromes with cleft lip/palate -MONDO:0009404 hypertelorism, microtia, facial clefting syndrome MONDO:0026189 Orphanet:2213 Orphanet:183576 obsolete genetic branchial arch or oral-acral syndrome -MONDO:0009404 hypertelorism, microtia, facial clefting syndrome MONDO:0035863 Orphanet:2213 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0009404 hypertelorism, microtia, facial clefting syndrome MONDO:8000032 Orphanet:2213 Orphanet:377789 obsolete malformation syndrome -MONDO:0009405 cervical hypertrichosis-peripheral neuropathy syndrome MONDO:0017121 Orphanet:2218 Orphanet:269546 obsolete syndrome with a Dandy-Walker malformation as major feature -MONDO:0009406 hypertrichotic osteochondrodysplasia Cantu type MONDO:0035863 Orphanet:1517 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0009406 hypertrichotic osteochondrodysplasia Cantu type MONDO:0800085 Orphanet:1517 Orphanet:93453 obsolete dysostosis with predominant craniofacial involvement -MONDO:0009406 hypertrichotic osteochondrodysplasia Cantu type MONDO:8000032 Orphanet:1517 Orphanet:377789 obsolete malformation syndrome -MONDO:0009411 autoimmune polyendocrine syndrome type 1 MONDO:0015709 Orphanet:3453 Orphanet:169355 obsolete immunodeficiency syndrome with autoimmunity -MONDO:0009411 autoimmune polyendocrine syndrome type 1 MONDO:0015896 Orphanet:3453 Orphanet:181405 obsolete rare hypoparathyroidism -MONDO:0009411 autoimmune polyendocrine syndrome type 1 MONDO:0018401 Orphanet:3453 Orphanet:399853 obsolete female infertility due to an anomaly of ovarian function -MONDO:0009411 autoimmune polyendocrine syndrome type 1 MONDO:0020225 Orphanet:3453 Orphanet:98641 obsolete syndromic cataract -MONDO:0009411 autoimmune polyendocrine syndrome type 1 MONDO:0020999 Orphanet:3453 Orphanet:101960 obsolete genetic chronic primary adrenal insufficiency -MONDO:0009411 autoimmune polyendocrine syndrome type 1 MONDO:0026209 Orphanet:3453 Orphanet:183643 obsolete genetic polyendocrinopathy -MONDO:0009414 glycogen storage disorder due to hepatic glycogen synthase deficiency MONDO:0017693 Orphanet:2089 Orphanet:308520 obsolete glycogen storage disease due to glycogen synthase deficiency -MONDO:0009416 hypoinsulinemic hypoglycemia and body hemihypertrophy MONDO:0015513 Orphanet:293964 Orphanet:156638 obsolete rare genetic endocrine disease -MONDO:0009416 hypoinsulinemic hypoglycemia and body hemihypertrophy MONDO:0020005 Orphanet:293964 Orphanet:97978 obsolete rare endocrine disease -MONDO:0009417 hypergonadotropic hypogonadism-cataract syndrome MONDO:0015906 Orphanet:2410 Orphanet:181441 obsolete rare disorder with hypergonadotropic hypogonadism -MONDO:0009417 hypergonadotropic hypogonadism-cataract syndrome MONDO:0020225 Orphanet:2410 Orphanet:98641 obsolete syndromic cataract -MONDO:0009417 hypergonadotropic hypogonadism-cataract syndrome MONDO:8000032 Orphanet:2410 Orphanet:377789 obsolete malformation syndrome -MONDO:0009419 Woodhouse-Sakati syndrome MONDO:0015888 Orphanet:3464 Orphanet:181381 obsolete other rare diabetes mellitus -MONDO:0009419 Woodhouse-Sakati syndrome MONDO:0015890 Orphanet:3464 Orphanet:181387 obsolete rare disorder with congenital hypogonadotropic hypogonadism -MONDO:0009419 Woodhouse-Sakati syndrome MONDO:0015906 Orphanet:3464 Orphanet:181441 obsolete rare disorder with hypergonadotropic hypogonadism -MONDO:0009419 Woodhouse-Sakati syndrome MONDO:0018265 Orphanet:3464 Orphanet:370106 obsolete rare disorder with dystonia and other neurologic or systemic manifestation -MONDO:0009419 Woodhouse-Sakati syndrome MONDO:0035862 Orphanet:3464 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome -MONDO:0009420 primary hypergonadotropic hypogonadism-partial alopecia syndrome MONDO:0015906 Orphanet:2232 Orphanet:181441 obsolete rare disorder with hypergonadotropic hypogonadism -MONDO:0009424 Bartter disease type 2 MONDO:8000031 Orphanet:620220 Orphanet:557494 obsolete subtype of a disorder -MONDO:0009425 hypomandibular faciocranial dysostosis MONDO:0020018 Orphanet:1790 Orphanet:98038 obsolete cranial malformation -MONDO:0009425 hypomandibular faciocranial dysostosis MONDO:0026182 Orphanet:1790 Orphanet:183542 obsolete genetic cranial malformation -MONDO:0009425 hypomandibular faciocranial dysostosis MONDO:0035863 Orphanet:1790 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0009425 hypomandibular faciocranial dysostosis MONDO:8000032 Orphanet:1790 Orphanet:377789 obsolete malformation syndrome -MONDO:0009426 hypoparathyroidism-retardation-dysmorphism syndrome MONDO:0015895 Orphanet:2323 Orphanet:181402 obsolete syndrome with hypoparathyroidism -MONDO:0009426 hypoparathyroidism-retardation-dysmorphism syndrome MONDO:0035863 Orphanet:2323 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0009426 hypoparathyroidism-retardation-dysmorphism syndrome MONDO:8000032 Orphanet:2323 Orphanet:377789 obsolete malformation syndrome -MONDO:0009427 obsolete infantile hypophosphatasia MONDO:0015338 Orphanet:247651 Orphanet:139393 syndromic craniosynostosis -MONDO:0009427 obsolete infantile hypophosphatasia MONDO:0018570 Orphanet:247651 Orphanet:436 hypophosphatasia -MONDO:0009427 obsolete infantile hypophosphatasia MONDO:0020014 Orphanet:247651 Orphanet:98027 obsolete rare disease with odontological manifestation -MONDO:0009427 obsolete infantile hypophosphatasia MONDO:8000031 Orphanet:247651 Orphanet:557494 obsolete subtype of a disorder -MONDO:0009428 obsolete childhood hypophosphatasia MONDO:0015338 Orphanet:247667 Orphanet:139393 syndromic craniosynostosis -MONDO:0009428 obsolete childhood hypophosphatasia MONDO:0018570 Orphanet:247667 Orphanet:436 hypophosphatasia -MONDO:0009428 obsolete childhood hypophosphatasia MONDO:0020014 Orphanet:247667 Orphanet:98027 obsolete rare disease with odontological manifestation -MONDO:0009428 obsolete childhood hypophosphatasia MONDO:8000031 Orphanet:247667 Orphanet:557494 obsolete subtype of a disorder -MONDO:0009435 hypospadias-intellectual disability, Goldblatt type syndrome MONDO:0015620 Orphanet:2261 Orphanet:165707 obsolete syndromic urogenital tract malformation -MONDO:0009435 hypospadias-intellectual disability, Goldblatt type syndrome MONDO:0035863 Orphanet:2261 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0009435 hypospadias-intellectual disability, Goldblatt type syndrome MONDO:8000032 Orphanet:2261 Orphanet:377789 obsolete malformation syndrome -MONDO:0009437 Bamforth-Lazarus syndrome MONDO:0015335 Orphanet:1226 Orphanet:139039 obsolete Mendelian syndromes with cleft lip/palate -MONDO:0009437 Bamforth-Lazarus syndrome MONDO:0015778 Orphanet:1226 Orphanet:177107 obsolete syndromic hypothyroidism -MONDO:0009437 Bamforth-Lazarus syndrome MONDO:8000032 Orphanet:1226 Orphanet:377789 obsolete malformation syndrome -MONDO:0009444 ichthyosis-alopecia-eclabion-ectropion-intellectual disability syndrome MONDO:0017272 Orphanet:2269 Orphanet:281238 obsolete autosomal ichthyosis syndrome with prominent neurologics signs -MONDO:0009444 ichthyosis-alopecia-eclabion-ectropion-intellectual disability syndrome MONDO:0020162 Orphanet:2269 Orphanet:98571 obsolete secondary ectropion -MONDO:0009444 ichthyosis-alopecia-eclabion-ectropion-intellectual disability syndrome MONDO:0035862 Orphanet:2269 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome -MONDO:0009445 ichthyosis-hepatosplenomegaly-cerebellar degeneration syndrome MONDO:0029102 Orphanet:2274 Orphanet:281244 obsolete autosomal ichthyosis syndrome with other associated signs -MONDO:0009446 ichthyosis-intellectual disability-dwarfism-renal impairment syndrome MONDO:0019721 Orphanet:2278 Orphanet:93547 obsolete syndromic renal or urinary tract malformation -MONDO:0009446 ichthyosis-intellectual disability-dwarfism-renal impairment syndrome MONDO:0020225 Orphanet:2278 Orphanet:98641 obsolete syndromic cataract -MONDO:0009446 ichthyosis-intellectual disability-dwarfism-renal impairment syndrome MONDO:0029102 Orphanet:2278 Orphanet:281244 obsolete autosomal ichthyosis syndrome with other associated signs -MONDO:0009446 ichthyosis-intellectual disability-dwarfism-renal impairment syndrome MONDO:0035863 Orphanet:2278 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0009446 ichthyosis-intellectual disability-dwarfism-renal impairment syndrome MONDO:8000032 Orphanet:2278 Orphanet:377789 obsolete malformation syndrome -MONDO:0009451 Nezelof syndrome MONDO:0018036 Orphanet:83471 Orphanet:331220 obsolete immunodeficiency due to absence of thymus -MONDO:0009452 Vici syndrome MONDO:0016055 Orphanet:1493 Orphanet:199639 obsolete syndrome with corpus callosum agenesis /dysgenesis as a major feature -MONDO:0009452 Vici syndrome MONDO:0016337 Orphanet:1493 Orphanet:217619 obsolete syndrome associated with dilated cardiomyopathy -MONDO:0009452 Vici syndrome MONDO:0017118 Orphanet:1493 Orphanet:269523 obsolete syndrome with a cerebellar malformation as major feature -MONDO:0009452 Vici syndrome MONDO:0017122 Orphanet:1493 Orphanet:269573 obsolete genetic syndrome with corpus callosum agenesis/dysgenesis as a major feature -MONDO:0009452 Vici syndrome MONDO:0018035 Orphanet:1493 Orphanet:331217 obsolete syndrome with combined immunodeficiency -MONDO:0009452 Vici syndrome MONDO:0020225 Orphanet:1493 Orphanet:98641 obsolete syndromic cataract -MONDO:0009452 Vici syndrome MONDO:0035863 Orphanet:1493 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0009452 Vici syndrome MONDO:0043008 Orphanet:1493 Orphanet:330206 obsolete genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability -MONDO:0009452 Vici syndrome MONDO:8000032 Orphanet:1493 Orphanet:377789 obsolete malformation syndrome -MONDO:0009458 Schimke immuno-osseous dysplasia MONDO:0015877 Orphanet:1830 Orphanet:180766 obsolete malformative syndrome with dentinogenesis imperfecta -MONDO:0009459 channelopathy-associated congenital insensitivity to pain, autosomal recessive MONDO:0015366 Orphanet:88642 Orphanet:140477 obsolete autosomal recessive hereditary sensory and autonomic neuropathy -MONDO:0009461 spermatogenic failure 5 MONDO:8000031 Orphanet:137893 Orphanet:557494 obsolete subtype of a disorder -MONDO:0009465 multiple intestinal atresia MONDO:0015211 Orphanet:2300 Orphanet:108967 obsolete non-syndromic intestinal malformation -MONDO:0009465 multiple intestinal atresia MONDO:0018035 Orphanet:2300 Orphanet:331217 obsolete syndrome with combined immunodeficiency -MONDO:0009465 multiple intestinal atresia MONDO:8000030 Orphanet:2300 Orphanet:377791 obsolete morphological anomaly -MONDO:0009468 pseudotumor cerebri MONDO:0020009 Orphanet:238624 Orphanet:98006 obsolete rare neurologic disease -MONDO:0009469 benign recurrent intrahepatic cholestasis type 1 MONDO:8000031 Orphanet:99960 Orphanet:557494 obsolete subtype of a disorder -MONDO:0009473 isotretinoin-like syndrome MONDO:0035863 Orphanet:2306 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0009473 isotretinoin-like syndrome MONDO:8000032 Orphanet:2306 Orphanet:377789 obsolete malformation syndrome -MONDO:0009475 isovaleric acidemia MONDO:0035862 Orphanet:33 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome -MONDO:0009476 atresia of small intestine MONDO:0015211 Orphanet:1201 Orphanet:108967 obsolete non-syndromic intestinal malformation -MONDO:0009476 atresia of small intestine MONDO:0018241 Orphanet:1201 Orphanet:365563 obsolete primary short bowel syndrome -MONDO:0009476 atresia of small intestine MONDO:8000030 Orphanet:1201 Orphanet:377791 obsolete morphological anomaly -MONDO:0009477 Stromme syndrome MONDO:0015212 Orphanet:506307 Orphanet:108969 obsolete syndromic intestinal malformation -MONDO:0009477 Stromme syndrome MONDO:0017120 Orphanet:444069 Orphanet:269531 obsolete other syndrome with a central nervous system malformation as major feature -MONDO:0009477 Stromme syndrome MONDO:0018731 Orphanet:444069 Orphanet:459787 obsolete lethal multiple congenital anomalies/dysmorphic syndrome -MONDO:0009477 Stromme syndrome MONDO:0019721 Orphanet:444069 Orphanet:93547 obsolete syndromic renal or urinary tract malformation -MONDO:0009477 Stromme syndrome MONDO:0022409 Orphanet:444069 Orphanet:156162 obsolete nephropathy-associated ciliopathy -MONDO:0009477 Stromme syndrome MONDO:0022409 Orphanet:506307 Orphanet:156162 obsolete nephropathy-associated ciliopathy -MONDO:0009477 Stromme syndrome MONDO:0035863 Orphanet:506307 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0009477 Stromme syndrome MONDO:8000032 Orphanet:444069 Orphanet:377789 obsolete malformation syndrome -MONDO:0009477 Stromme syndrome MONDO:8000032 Orphanet:506307 Orphanet:377789 obsolete malformation syndrome -MONDO:0009479 Johanson-Blizzard syndrome MONDO:0015246 Orphanet:2315 Orphanet:117573 obsolete syndromic anorectal malformation -MONDO:0009479 Johanson-Blizzard syndrome MONDO:0015329 Orphanet:2315 Orphanet:139021 obsolete malformation syndrome with short stature -MONDO:0009479 Johanson-Blizzard syndrome MONDO:0015778 Orphanet:2315 Orphanet:177107 obsolete syndromic hypothyroidism -MONDO:0009479 Johanson-Blizzard syndrome MONDO:0019827 Orphanet:2315 Orphanet:95495 obsolete disease associated with non-acquired combined pituitary hormone deficiency -MONDO:0009479 Johanson-Blizzard syndrome MONDO:0026187 Orphanet:2315 Orphanet:183570 obsolete genetic malformation syndrome with short stature -MONDO:0009479 Johanson-Blizzard syndrome MONDO:0035863 Orphanet:2315 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0009479 Johanson-Blizzard syndrome MONDO:8000032 Orphanet:2315 Orphanet:377789 obsolete malformation syndrome -MONDO:0009480 Joubert syndrome with oculorenal defect MONDO:0017118 Orphanet:2318 Orphanet:269523 obsolete syndrome with a cerebellar malformation as major feature -MONDO:0009480 Joubert syndrome with oculorenal defect MONDO:0022409 Orphanet:2318 Orphanet:156162 obsolete nephropathy-associated ciliopathy -MONDO:0009480 Joubert syndrome with oculorenal defect MONDO:0034953 Orphanet:2318 Orphanet:519325 obsolete syndromic inherited retinal disorder -MONDO:0009480 Joubert syndrome with oculorenal defect MONDO:0035863 Orphanet:2318 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0009480 Joubert syndrome with oculorenal defect MONDO:8000032 Orphanet:2318 Orphanet:377789 obsolete malformation syndrome -MONDO:0009483 Kapur-Toriello syndrome MONDO:0015335 Orphanet:2328 Orphanet:139039 obsolete Mendelian syndromes with cleft lip/palate -MONDO:0009483 Kapur-Toriello syndrome MONDO:0035863 Orphanet:2328 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0009483 Kapur-Toriello syndrome MONDO:8000032 Orphanet:2328 Orphanet:377789 obsolete malformation syndrome -MONDO:0009485 oculocerebrofacial syndrome, Kaufman type MONDO:0035863 Orphanet:2707 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0009485 oculocerebrofacial syndrome, Kaufman type MONDO:8000032 Orphanet:2707 Orphanet:377789 obsolete malformation syndrome -MONDO:0009486 autosomal recessive Kenny-Caffey syndrome MONDO:8000031 Orphanet:93324 Orphanet:557494 obsolete subtype of a disorder -MONDO:0009489 hereditary palmoplantar keratoderma, Gamborg-Nielsen type MONDO:0020096 Orphanet:86923 Orphanet:98356 obsolete autosomal recessive isolated diffuse palmoplantar keratoderma -MONDO:0009490 Papillon-Lefevre disease MONDO:0015336 Orphanet:678 Orphanet:139042 obsolete malformation syndrome with odontal and/or periodontal component -MONDO:0009490 Papillon-Lefevre disease MONDO:0017671 Orphanet:678 Orphanet:307804 obsolete autosomal recessive disease with diffuse palmoplantar keratoderma as a major feature -MONDO:0009490 Papillon-Lefevre disease MONDO:0026190 Orphanet:678 Orphanet:183580 obsolete genetic malformation syndrome with odontal and/or periodontal component -MONDO:0009491 Haim-Munk syndrome MONDO:0015336 Orphanet:2342 Orphanet:139042 obsolete malformation syndrome with odontal and/or periodontal component -MONDO:0009491 Haim-Munk syndrome MONDO:0017671 Orphanet:2342 Orphanet:307804 obsolete autosomal recessive disease with diffuse palmoplantar keratoderma as a major feature -MONDO:0009491 Haim-Munk syndrome MONDO:0026190 Orphanet:2342 Orphanet:183580 obsolete genetic malformation syndrome with odontal and/or periodontal component -MONDO:0009493 Richards-Rundle syndrome MONDO:0019589 Orphanet:1399 Orphanet:90642 obsolete syndromic genetic hearing loss -MONDO:0009493 Richards-Rundle syndrome MONDO:0035863 Orphanet:1399 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0009493 Richards-Rundle syndrome MONDO:8000032 Orphanet:1399 Orphanet:377789 obsolete malformation syndrome -MONDO:0009495 Keutel syndrome MONDO:0035863 Orphanet:85202 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0009495 Keutel syndrome MONDO:8000032 Orphanet:85202 Orphanet:377789 obsolete malformation syndrome -MONDO:0009498 lethal Kniest-like dysplasia MONDO:0019718 Orphanet:2347 Orphanet:93465 obsolete lethal chondrodysplasia -MONDO:0009498 lethal Kniest-like dysplasia MONDO:8000032 Orphanet:2347 Orphanet:377789 obsolete malformation syndrome -MONDO:0009499 Krabbe disease MONDO:0015918 Orphanet:487 Orphanet:182070 obsolete rare neurodegenerative disease -MONDO:0009499 Krabbe disease MONDO:0018299 Orphanet:487 Orphanet:371442 obsolete sphingolipidosis with epilepsy -MONDO:0009499 Krabbe disease MONDO:0018609 Orphanet:487 Orphanet:441434 obsolete syndromic hereditary optic neuropathy -MONDO:0009499 Krabbe disease MONDO:0019058 Orphanet:487 Orphanet:68385 obsolete neurometabolic disease -MONDO:0009502 pyruvate dehydrogenase E2 deficiency MONDO:8000031 Orphanet:79244 Orphanet:557494 obsolete subtype of a disorder -MONDO:0009503 pyruvate dehydrogenase E3-binding protein deficiency MONDO:8000031 Orphanet:255182 Orphanet:557494 obsolete subtype of a disorder -MONDO:0009507 Lambert syndrome MONDO:0015334 Orphanet:1296 Orphanet:139036 obsolete branchial arch or oral-acral syndrome -MONDO:0009507 Lambert syndrome MONDO:0015495 Orphanet:1296 Orphanet:156202 obsolete otomandibular dysplasia associated with monogenic syndromes -MONDO:0009507 Lambert syndrome MONDO:0026189 Orphanet:1296 Orphanet:183576 obsolete genetic branchial arch or oral-acral syndrome -MONDO:0009507 Lambert syndrome MONDO:0035863 Orphanet:1296 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0009507 Lambert syndrome MONDO:8000032 Orphanet:1296 Orphanet:377789 obsolete malformation syndrome -MONDO:0009511 Larsen-like syndrome, B3GAT3 type MONDO:0015332 Orphanet:284139 Orphanet:139030 obsolete rare developmental defect with connective tissue involvement -MONDO:0009511 Larsen-like syndrome, B3GAT3 type MONDO:0017742 Orphanet:284139 Orphanet:309450 obsolete disorder of O-xylosylglycan synthesis -MONDO:0009511 Larsen-like syndrome, B3GAT3 type MONDO:0018290 Orphanet:284139 Orphanet:371183 obsolete congenital disorder of glycosylation with cardiac malformation as a major feature -MONDO:0009511 Larsen-like syndrome, B3GAT3 type MONDO:0018292 Orphanet:284139 Orphanet:371195 obsolete congenital disorder of glycosylation-related bone disorder -MONDO:0009511 Larsen-like syndrome, B3GAT3 type MONDO:0800086 Orphanet:284139 Orphanet:93441 obsolete primary bone dysplasia with multiple joint dislocations -MONDO:0009511 Larsen-like syndrome, B3GAT3 type MONDO:8000032 Orphanet:284139 Orphanet:377789 obsolete malformation syndrome -MONDO:0009512 lethal Larsen-like syndrome MONDO:0015332 Orphanet:2371 Orphanet:139030 obsolete rare developmental defect with connective tissue involvement -MONDO:0009512 lethal Larsen-like syndrome MONDO:0800086 Orphanet:2371 Orphanet:93441 obsolete primary bone dysplasia with multiple joint dislocations -MONDO:0009512 lethal Larsen-like syndrome MONDO:8000032 Orphanet:2371 Orphanet:377789 obsolete malformation syndrome -MONDO:0009513 laryngo-onycho-cutaneous syndrome MONDO:0015221 Orphanet:2407 Orphanet:108993 obsolete non-syndromic respiratory or mediastinal malformation -MONDO:0009513 laryngo-onycho-cutaneous syndrome MONDO:0015222 Orphanet:2407 Orphanet:108995 obsolete syndromic respiratory or mediastinal malformation -MONDO:0009513 laryngo-onycho-cutaneous syndrome MONDO:0015930 Orphanet:2407 Orphanet:182111 obsolete respiratory malformation -MONDO:0009513 laryngo-onycho-cutaneous syndrome MONDO:0020014 Orphanet:2407 Orphanet:98027 obsolete rare disease with odontological manifestation -MONDO:0009513 laryngo-onycho-cutaneous syndrome MONDO:0020198 Orphanet:2407 Orphanet:98610 obsolete rare conjunctival disease -MONDO:0009513 laryngo-onycho-cutaneous syndrome MONDO:0026203 Orphanet:2407 Orphanet:183622 obsolete genetic respiratory malformation -MONDO:0009514 Laurence-Moon syndrome MONDO:0015890 Orphanet:2377 Orphanet:181387 obsolete rare disorder with congenital hypogonadotropic hypogonadism -MONDO:0009514 Laurence-Moon syndrome MONDO:0020240 Orphanet:2377 Orphanet:98661 obsolete syndromic retinitis pigmentosa -MONDO:0009514 Laurence-Moon syndrome MONDO:0022407 Orphanet:2377 Orphanet:156183 obsolete retinal ciliopathy due to mutation in Bardet-Biedl gene -MONDO:0009514 Laurence-Moon syndrome MONDO:0035863 Orphanet:2377 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0009514 Laurence-Moon syndrome MONDO:8000032 Orphanet:2377 Orphanet:377789 obsolete malformation syndrome -MONDO:0009515 Norum disease MONDO:0015910 Orphanet:79293 Orphanet:182043 obsolete rare constitutional hemolytic anemia -MONDO:0009515 Norum disease MONDO:8000031 Orphanet:79293 Orphanet:557494 obsolete subtype of a disorder -MONDO:0009516 absence deformity of leg-cataract syndrome MONDO:0017432 Orphanet:2310 Orphanet:294955 obsolete syndrome with limb reduction defects -MONDO:0009516 absence deformity of leg-cataract syndrome MONDO:0020225 Orphanet:2310 Orphanet:98641 obsolete syndromic cataract -MONDO:0009516 absence deformity of leg-cataract syndrome MONDO:8000032 Orphanet:2310 Orphanet:377789 obsolete malformation syndrome -MONDO:0009517 Donohue syndrome MONDO:0015885 Orphanet:508 Orphanet:181368 obsolete rare insulin-resistance syndrome -MONDO:0009517 Donohue syndrome MONDO:0031689 Orphanet:508 Orphanet:363245 obsolete genetic progeroid syndrome -MONDO:0009517 Donohue syndrome MONDO:0043008 Orphanet:508 Orphanet:330206 obsolete genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability -MONDO:0009517 Donohue syndrome MONDO:8000032 Orphanet:508 Orphanet:377789 obsolete malformation syndrome -MONDO:0009522 Leukomelanoderma-infantilism-intellectual disability-hypodontia-hypotrichosis syndrome MONDO:0035863 Orphanet:1816 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0009522 Leukomelanoderma-infantilism-intellectual disability-hypodontia-hypotrichosis syndrome MONDO:8000032 Orphanet:1816 Orphanet:377789 obsolete malformation syndrome -MONDO:0009523 Lichtenstein syndrome MONDO:0018032 Orphanet:2390 Orphanet:331184 obsolete constitutional neutropenia with extra-hematopoietic manifestations -MONDO:0009524 intellectual disability-spasticity-ectrodactyly syndrome MONDO:0017432 Orphanet:1891 Orphanet:294955 obsolete syndrome with limb reduction defects -MONDO:0009524 intellectual disability-spasticity-ectrodactyly syndrome MONDO:0035863 Orphanet:1891 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0009524 intellectual disability-spasticity-ectrodactyly syndrome MONDO:8000032 Orphanet:1891 Orphanet:377789 obsolete malformation syndrome -MONDO:0009525 split hand-foot malformation 3 MONDO:0035863 Orphanet:1307 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0009525 split hand-foot malformation 3 MONDO:8000032 Orphanet:1307 Orphanet:377789 obsolete malformation syndrome -MONDO:0009527 lipase deficiency, combined MONDO:8000031 Orphanet:535453 Orphanet:557494 obsolete subtype of a disorder -MONDO:0009528 chylomicron retention disease MONDO:0015180 Orphanet:71 Orphanet:104005 obsolete intestinal disease due to fat malabsorption -MONDO:0009528 chylomicron retention disease MONDO:0031698 Orphanet:71 Orphanet:363306 obsolete genetic intestinal disease due to fat malabsorption -MONDO:0009529 pyruvate dehydrogenase E3 deficiency MONDO:8000031 Orphanet:2394 Orphanet:557494 obsolete subtype of a disorder -MONDO:0009530 lipoid proteinosis MONDO:0015331 Orphanet:530 Orphanet:139027 obsolete malformation syndrome with skin/mucosae involvement -MONDO:0009530 lipoid proteinosis MONDO:0018798 Orphanet:530 Orphanet:477808 obsolete other genetic dermis disorder -MONDO:0009530 lipoid proteinosis MONDO:8000032 Orphanet:530 Orphanet:377789 obsolete malformation syndrome -MONDO:0009532 Miller-Dieker lissencephaly syndrome MONDO:0015652 Orphanet:531 Orphanet:166469 obsolete chromosomal anomaly with epilepsy as a major feature -MONDO:0009532 Miller-Dieker lissencephaly syndrome MONDO:8000032 Orphanet:531 Orphanet:377789 obsolete malformation syndrome -MONDO:0009533 Dahlberg-Borer-Newcomer syndrome MONDO:0015895 Orphanet:1563 Orphanet:181402 obsolete syndrome with hypoparathyroidism -MONDO:0009533 Dahlberg-Borer-Newcomer syndrome MONDO:0020225 Orphanet:1563 Orphanet:98641 obsolete syndromic cataract -MONDO:0009533 Dahlberg-Borer-Newcomer syndrome MONDO:0035470 Orphanet:1563 Orphanet:568044 obsolete primary lymphedema with systemic or visceral involvement -MONDO:0009533 Dahlberg-Borer-Newcomer syndrome MONDO:0043008 Orphanet:1563 Orphanet:330206 obsolete genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability -MONDO:0009533 Dahlberg-Borer-Newcomer syndrome MONDO:8000032 Orphanet:1563 Orphanet:377789 obsolete malformation syndrome -MONDO:0009543 prominent glabella-microcephaly-hypogenitalism syndrome MONDO:0035863 Orphanet:2083 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0009543 prominent glabella-microcephaly-hypogenitalism syndrome MONDO:8000032 Orphanet:2083 Orphanet:377789 obsolete malformation syndrome -MONDO:0009547 macrosomia-microphthalmia-cleft palate syndrome MONDO:0015335 Orphanet:2432 Orphanet:139039 obsolete Mendelian syndromes with cleft lip/palate -MONDO:0009547 macrosomia-microphthalmia-cleft palate syndrome MONDO:0018731 Orphanet:2432 Orphanet:459787 obsolete lethal multiple congenital anomalies/dysmorphic syndrome -MONDO:0009547 macrosomia-microphthalmia-cleft palate syndrome MONDO:8000032 Orphanet:2432 Orphanet:377789 obsolete malformation syndrome -MONDO:0009548 renal hypomagnesemia 5 with ocular involvement MONDO:0020240 Orphanet:2196 Orphanet:98661 obsolete syndromic retinitis pigmentosa -MONDO:0009548 renal hypomagnesemia 5 with ocular involvement MONDO:8000031 Orphanet:2196 Orphanet:557494 obsolete subtype of a disorder -MONDO:0009550 renal hypomagnesemia 3 MONDO:8000031 Orphanet:31043 Orphanet:557494 obsolete subtype of a disorder -MONDO:0009552 mal de Meleda MONDO:0020096 Orphanet:87503 Orphanet:98356 obsolete autosomal recessive isolated diffuse palmoplantar keratoderma -MONDO:0009556 malonic aciduria MONDO:0017717 Orphanet:943 Orphanet:309133 obsolete metabolic disease due to other fatty acid oxidation disorder -MONDO:0009557 mandibuloacral dysplasia with type A lipodystrophy MONDO:0029812 Orphanet:90153 Orphanet:300763 obsolete laminopathy with lipodystrophy -MONDO:0009557 mandibuloacral dysplasia with type A lipodystrophy MONDO:8000031 Orphanet:90153 Orphanet:557494 obsolete subtype of a disorder -MONDO:0009560 oculotrichoanal syndrome MONDO:0020157 Orphanet:2717 Orphanet:98566 obsolete syndromic palpebral coloboma -MONDO:0009560 oculotrichoanal syndrome MONDO:0043008 Orphanet:2717 Orphanet:330206 obsolete genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability -MONDO:0009560 oculotrichoanal syndrome MONDO:8000032 Orphanet:2717 Orphanet:377789 obsolete malformation syndrome -MONDO:0009561 alpha-mannosidosis MONDO:0019058 Orphanet:61 Orphanet:68385 obsolete neurometabolic disease -MONDO:0009561 alpha-mannosidosis MONDO:0020228 Orphanet:61 Orphanet:98644 obsolete cataract associated with a metabolic disease -MONDO:0009561 alpha-mannosidosis MONDO:0035862 Orphanet:61 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome -MONDO:0009562 beta-mannosidosis MONDO:0016133 Orphanet:118 Orphanet:207018 obsolete rare hereditary metabolic disease with peripheral neuropathy -MONDO:0009562 beta-mannosidosis MONDO:0016326 Orphanet:118 Orphanet:217581 obsolete lysosomal disease with hypertrophic cardiomyopathy -MONDO:0009562 beta-mannosidosis MONDO:0035862 Orphanet:118 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome -MONDO:0009563 maple syrup urine disease MONDO:0035862 Orphanet:511 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome -MONDO:0009564 Marden-Walker syndrome MONDO:0015501 Orphanet:2461 Orphanet:156237 obsolete syndrome or malformation associated with head and neck malformations -MONDO:0009564 Marden-Walker syndrome MONDO:0035863 Orphanet:2461 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0009564 Marden-Walker syndrome MONDO:8000032 Orphanet:2461 Orphanet:377789 obsolete malformation syndrome -MONDO:0009565 microcephaly-glomerulonephritis-marfanoid habitus syndrome MONDO:0035863 Orphanet:2172 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0009565 microcephaly-glomerulonephritis-marfanoid habitus syndrome MONDO:8000032 Orphanet:2172 Orphanet:377789 obsolete malformation syndrome -MONDO:0009566 marfanoid habitus-autosomal recessive intellectual disability syndrome MONDO:0035863 Orphanet:2463 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0009566 marfanoid habitus-autosomal recessive intellectual disability syndrome MONDO:8000032 Orphanet:2463 Orphanet:377789 obsolete malformation syndrome -MONDO:0009567 Marinesco-Sjogren syndrome MONDO:0016136 Orphanet:559 Orphanet:207028 obsolete cerebellar ataxia with peripheral neuropathy -MONDO:0009567 Marinesco-Sjogren syndrome MONDO:0020165 Orphanet:559 Orphanet:98574 obsolete syndromic epicanthus -MONDO:0009567 Marinesco-Sjogren syndrome MONDO:0020225 Orphanet:559 Orphanet:98641 obsolete syndromic cataract -MONDO:0009567 Marinesco-Sjogren syndrome MONDO:0020253 Orphanet:559 Orphanet:98683 obsolete syndrome with a symptomatic strabismus -MONDO:0009567 Marinesco-Sjogren syndrome MONDO:0035862 Orphanet:559 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome -MONDO:0009568 mast syndrome MONDO:0015089 Orphanet:101001 Orphanet:100981 obsolete autosomal recessive complex spastic paraplegia -MONDO:0009569 Hennekam-Beemer syndrome MONDO:0035863 Orphanet:2135 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0009569 Hennekam-Beemer syndrome MONDO:8000032 Orphanet:2135 Orphanet:377789 obsolete malformation syndrome -MONDO:0009570 McDonough syndrome MONDO:0020253 Orphanet:2471 Orphanet:98683 obsolete syndrome with a symptomatic strabismus -MONDO:0009570 McDonough syndrome MONDO:0035863 Orphanet:2471 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0009570 McDonough syndrome MONDO:8000032 Orphanet:2471 Orphanet:377789 obsolete malformation syndrome -MONDO:0009575 thiamine-responsive megaloblastic anemia syndrome MONDO:0015888 Orphanet:49827 Orphanet:181381 obsolete other rare diabetes mellitus -MONDO:0009575 thiamine-responsive megaloblastic anemia syndrome MONDO:0019589 Orphanet:49827 Orphanet:90642 obsolete syndromic genetic hearing loss -MONDO:0009577 megalocornea-intellectual disability syndrome MONDO:0035863 Orphanet:2479 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0009577 megalocornea-intellectual disability syndrome MONDO:8000032 Orphanet:2479 Orphanet:377789 obsolete malformation syndrome -MONDO:0009578 neurocutaneous melanocytosis MONDO:0016756 Orphanet:2481 Orphanet:252190 obsolete inherited nervous system cancer-predisposing syndrome -MONDO:0009578 neurocutaneous melanocytosis MONDO:0017414 Orphanet:2481 Orphanet:294057 obsolete rare nevus -MONDO:0009581 intellectual disability-dysmorphism-hypogonadism-diabetes mellitus syndrome MONDO:0015886 Orphanet:3044 Orphanet:181371 obsolete rare diabetes mellitus type 1 -MONDO:0009581 intellectual disability-dysmorphism-hypogonadism-diabetes mellitus syndrome MONDO:0015906 Orphanet:3044 Orphanet:181441 obsolete rare disorder with hypergonadotropic hypogonadism -MONDO:0009581 intellectual disability-dysmorphism-hypogonadism-diabetes mellitus syndrome MONDO:0035863 Orphanet:3044 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0009581 intellectual disability-dysmorphism-hypogonadism-diabetes mellitus syndrome MONDO:8000032 Orphanet:3044 Orphanet:377789 obsolete malformation syndrome -MONDO:0009582 Mietens syndrome MONDO:0020215 Orphanet:2557 Orphanet:98628 obsolete syndromic corneal dystrophy -MONDO:0009582 Mietens syndrome MONDO:0020253 Orphanet:2557 Orphanet:98683 obsolete syndrome with a symptomatic strabismus -MONDO:0009582 Mietens syndrome MONDO:0035863 Orphanet:2557 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0009582 Mietens syndrome MONDO:8000032 Orphanet:2557 Orphanet:377789 obsolete malformation syndrome -MONDO:0009583 blepharophimosis - intellectual disability syndrome, Ohdo type MONDO:8000032 Orphanet:2728 Orphanet:377789 obsolete malformation syndrome -MONDO:0009584 intellectual disability, Buenos-Aires type MONDO:0035863 Orphanet:3079 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0009584 intellectual disability, Buenos-Aires type MONDO:8000032 Orphanet:3079 Orphanet:377789 obsolete malformation syndrome -MONDO:0009585 encephalopathy due to beta-mercaptolactate-cysteine disulfiduria MONDO:0018652 Orphanet:1035 Orphanet:447874 obsolete biological anomaly without phenotypic characterization -MONDO:0009585 encephalopathy due to beta-mercaptolactate-cysteine disulfiduria MONDO:0032011 Orphanet:1035 Orphanet:377790 obsolete biological anomaly -MONDO:0009588 Langer mesomelic dysplasia MONDO:0019697 Orphanet:2632 Orphanet:93438 obsolete mesomelic and rhizo-mesomelic dysplasia -MONDO:0009588 Langer mesomelic dysplasia MONDO:8000032 Orphanet:2632 Orphanet:377789 obsolete malformation syndrome -MONDO:0009589 mesomelic dwarfism-cleft palate-camptodactyly syndrome MONDO:0015335 Orphanet:2631 Orphanet:139039 obsolete Mendelian syndromes with cleft lip/palate -MONDO:0009589 mesomelic dwarfism-cleft palate-camptodactyly syndrome MONDO:0019697 Orphanet:2631 Orphanet:93438 obsolete mesomelic and rhizo-mesomelic dysplasia -MONDO:0009589 mesomelic dwarfism-cleft palate-camptodactyly syndrome MONDO:0043008 Orphanet:2631 Orphanet:330206 obsolete genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability -MONDO:0009589 mesomelic dwarfism-cleft palate-camptodactyly syndrome MONDO:8000032 Orphanet:2631 Orphanet:377789 obsolete malformation syndrome -MONDO:0009591 metachromatic leukodystrophy, juvenile form MONDO:8000031 Orphanet:309263 Orphanet:557494 obsolete subtype of a disorder -MONDO:0009592 metaphyseal acroscyphodysplasia MONDO:0019693 Orphanet:1240 Orphanet:93430 obsolete multiple metaphyseal dysplasia -MONDO:0009592 metaphyseal acroscyphodysplasia MONDO:0035863 Orphanet:1240 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0009593 spondylometaphyseal dysplasia, Sedaghatian type MONDO:8000032 Orphanet:93317 Orphanet:377789 obsolete malformation syndrome -MONDO:0009594 metaphyseal chondrodysplasia, Kaitila type MONDO:0019693 Orphanet:166038 Orphanet:93430 obsolete multiple metaphyseal dysplasia -MONDO:0009595 cartilage-hair hypoplasia MONDO:0019693 Orphanet:175 Orphanet:93430 obsolete multiple metaphyseal dysplasia -MONDO:0009595 cartilage-hair hypoplasia MONDO:0020253 Orphanet:175 Orphanet:98683 obsolete syndrome with a symptomatic strabismus -MONDO:0009597 metaphyseal chondrodysplasia, Spahr type MONDO:0019693 Orphanet:2501 Orphanet:93430 obsolete multiple metaphyseal dysplasia -MONDO:0009598 metaphyseal chondrodysplasia-retinitis pigmentosa syndrome MONDO:0020240 Orphanet:166035 Orphanet:98661 obsolete syndromic retinitis pigmentosa -MONDO:0009598 metaphyseal chondrodysplasia-retinitis pigmentosa syndrome MONDO:0035863 Orphanet:166035 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0009598 metaphyseal chondrodysplasia-retinitis pigmentosa syndrome MONDO:0800094 Orphanet:166035 Orphanet:498454 obsolete dysostosis with brachydactyly with extraskeletal manifestations -MONDO:0009598 metaphyseal chondrodysplasia-retinitis pigmentosa syndrome MONDO:8000032 Orphanet:166035 Orphanet:377789 obsolete malformation syndrome -MONDO:0009599 metaphyseal dysostosis-intellectual disability-conductive deafness syndrome MONDO:0019589 Orphanet:2502 Orphanet:90642 obsolete syndromic genetic hearing loss -MONDO:0009599 metaphyseal dysostosis-intellectual disability-conductive deafness syndrome MONDO:0019693 Orphanet:2502 Orphanet:93430 obsolete multiple metaphyseal dysplasia -MONDO:0009599 metaphyseal dysostosis-intellectual disability-conductive deafness syndrome MONDO:0035863 Orphanet:2502 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0009599 metaphyseal dysostosis-intellectual disability-conductive deafness syndrome MONDO:8000032 Orphanet:2502 Orphanet:377789 obsolete malformation syndrome -MONDO:0009603 3-hydroxyisobutyryl-CoA hydrolase deficiency MONDO:0019058 Orphanet:88639 Orphanet:68385 obsolete neurometabolic disease -MONDO:0009603 3-hydroxyisobutyryl-CoA hydrolase deficiency MONDO:0035862 Orphanet:88639 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome -MONDO:0009607 methionine adenosyltransferase deficiency MONDO:0019058 Orphanet:168598 Orphanet:68385 obsolete neurometabolic disease -MONDO:0009607 methionine adenosyltransferase deficiency MONDO:0035862 Orphanet:168598 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome -MONDO:0009609 methylcobalamin deficiency type cblG MONDO:8000031 Orphanet:2170 Orphanet:557494 obsolete subtype of a disorder -MONDO:0009610 3-methylglutaconic aciduria type 1 MONDO:0035862 Orphanet:67046 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome -MONDO:0009611 3-methylglutaconic aciduria type 4 MONDO:0020228 Orphanet:67048 Orphanet:98644 obsolete cataract associated with a metabolic disease -MONDO:0009612 methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency MONDO:0017390 Orphanet:27 Orphanet:293355 obsolete methylmalonic acidemia without homocystinuria -MONDO:0009612 methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency MONDO:0019743 Orphanet:27 Orphanet:93593 obsolete nephropathy secondary to a storage or other metabolic disease -MONDO:0009612 methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency MONDO:0035862 Orphanet:27 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome -MONDO:0009613 methylmalonic aciduria, cblA type MONDO:8000031 Orphanet:79310 Orphanet:557494 obsolete subtype of a disorder -MONDO:0009614 methylmalonic aciduria, cblB type MONDO:8000031 Orphanet:79311 Orphanet:557494 obsolete subtype of a disorder -MONDO:0009615 methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency MONDO:0017390 Orphanet:308425 Orphanet:293355 obsolete methylmalonic acidemia without homocystinuria -MONDO:0009616 microcephalic primordial dwarfism, Toriello type MONDO:0017950 Orphanet:2643 Orphanet:324761 obsolete microcephalic primordial dwarfism -MONDO:0009616 microcephalic primordial dwarfism, Toriello type MONDO:0019699 Orphanet:2643 Orphanet:93440 obsolete slender bone dysplasia -MONDO:0009616 microcephalic primordial dwarfism, Toriello type MONDO:0020225 Orphanet:2643 Orphanet:98641 obsolete syndromic cataract -MONDO:0009616 microcephalic primordial dwarfism, Toriello type MONDO:8000032 Orphanet:2643 Orphanet:377789 obsolete malformation syndrome -MONDO:0009618 microcephaly-cardiomyopathy syndrome MONDO:0016337 Orphanet:2515 Orphanet:217619 obsolete syndrome associated with dilated cardiomyopathy -MONDO:0009618 microcephaly-cardiomyopathy syndrome MONDO:0017119 Orphanet:2515 Orphanet:269528 obsolete syndrome with microcephaly as major feature -MONDO:0009618 microcephaly-cardiomyopathy syndrome MONDO:0035863 Orphanet:2515 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0009618 microcephaly-cardiomyopathy syndrome MONDO:8000032 Orphanet:2515 Orphanet:377789 obsolete malformation syndrome -MONDO:0009619 microcephaly-micromelia syndrome MONDO:8000031 Orphanet:572768 Orphanet:557494 obsolete subtype of a disorder -MONDO:0009620 Say-Barber-Miller syndrome MONDO:0018041 Orphanet:3132 Orphanet:331244 obsolete other immunodeficiency syndrome with predominantly antibody defects -MONDO:0009620 Say-Barber-Miller syndrome MONDO:0035863 Orphanet:3132 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0009620 Say-Barber-Miller syndrome MONDO:8000032 Orphanet:3132 Orphanet:377789 obsolete malformation syndrome -MONDO:0009621 microcephaly-cervical spine fusion anomalies syndrome MONDO:0017119 Orphanet:2522 Orphanet:269528 obsolete syndrome with microcephaly as major feature -MONDO:0009621 microcephaly-cervical spine fusion anomalies syndrome MONDO:0035863 Orphanet:2522 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0009621 microcephaly-cervical spine fusion anomalies syndrome MONDO:8000032 Orphanet:2522 Orphanet:377789 obsolete malformation syndrome -MONDO:0009622 Jawad syndrome MONDO:0017119 Orphanet:313795 Orphanet:269528 obsolete syndrome with microcephaly as major feature -MONDO:0009622 Jawad syndrome MONDO:0035863 Orphanet:313795 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0009622 Jawad syndrome MONDO:8000032 Orphanet:313795 Orphanet:377789 obsolete malformation syndrome -MONDO:0009623 Nijmegen breakage syndrome MONDO:0015707 Orphanet:647 Orphanet:169346 obsolete DNA repair defect other than combined T-cell and B-cell immunodeficiencies -MONDO:0009623 Nijmegen breakage syndrome MONDO:0015945 Orphanet:647 Orphanet:183422 obsolete polymalformative genetic syndrome with increased risk of developing cancer -MONDO:0009623 Nijmegen breakage syndrome MONDO:0035863 Orphanet:647 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0009623 Nijmegen breakage syndrome MONDO:0043008 Orphanet:647 Orphanet:330206 obsolete genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability -MONDO:0009623 Nijmegen breakage syndrome MONDO:8000032 Orphanet:647 Orphanet:377789 obsolete malformation syndrome -MONDO:0009624 microcephaly and chorioretinopathy 1 MONDO:0034953 Orphanet:2518 Orphanet:519325 obsolete syndromic inherited retinal disorder -MONDO:0009624 microcephaly and chorioretinopathy 1 MONDO:0035863 Orphanet:2518 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0009624 microcephaly and chorioretinopathy 1 MONDO:8000032 Orphanet:2518 Orphanet:377789 obsolete malformation syndrome -MONDO:0009626 pseudo-TORCH syndrome MONDO:0035863 Orphanet:1229 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0009626 pseudo-TORCH syndrome MONDO:8000032 Orphanet:1229 Orphanet:377789 obsolete malformation syndrome -MONDO:0009627 Galloway-Mowat syndrome MONDO:0017120 Orphanet:2065 Orphanet:269531 obsolete other syndrome with a central nervous system malformation as major feature -MONDO:0009627 Galloway-Mowat syndrome MONDO:0035863 Orphanet:2065 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0009627 Galloway-Mowat syndrome MONDO:8000032 Orphanet:2065 Orphanet:377789 obsolete malformation syndrome -MONDO:0009635 microvillus inclusion disease MONDO:0015182 Orphanet:2290 Orphanet:104007 obsolete congenital enteropathy involving intestinal mucosa development -MONDO:0009635 microvillus inclusion disease MONDO:0019126 Orphanet:2290 Orphanet:73014 obsolete intractable diarrhea of infancy -MONDO:0009635 microvillus inclusion disease MONDO:0031697 Orphanet:2290 Orphanet:363300 obsolete genetic intractable diarrhea of infancy -MONDO:0009642 orofaciodigital syndrome type II MONDO:0019589 Orphanet:2751 Orphanet:90642 obsolete syndromic genetic hearing loss -MONDO:0009642 orofaciodigital syndrome type II MONDO:0035863 Orphanet:2751 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0009642 orofaciodigital syndrome type II MONDO:8000032 Orphanet:2751 Orphanet:377789 obsolete malformation syndrome -MONDO:0009650 mucolipidosis type II MONDO:0035863 Orphanet:576 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0009652 GNPTG-mucolipidosis MONDO:8000031 Orphanet:423470 Orphanet:557494 obsolete subtype of a disorder -MONDO:0009653 mucolipidosis type IV MONDO:0016397 Orphanet:578 Orphanet:225681 obsolete lysosomal disease with epilepsy -MONDO:0009653 mucolipidosis type IV MONDO:0020253 Orphanet:578 Orphanet:98683 obsolete syndrome with a symptomatic strabismus -MONDO:0009653 mucolipidosis type IV MONDO:0034953 Orphanet:578 Orphanet:519325 obsolete syndromic inherited retinal disorder -MONDO:0009653 mucolipidosis type IV MONDO:0035862 Orphanet:578 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome -MONDO:0009655 mucopolysaccharidosis type 3A MONDO:8000031 Orphanet:79269 Orphanet:557494 obsolete subtype of a disorder -MONDO:0009656 mucopolysaccharidosis type 3B MONDO:8000031 Orphanet:79270 Orphanet:557494 obsolete subtype of a disorder -MONDO:0009657 mucopolysaccharidosis type 3C MONDO:8000031 Orphanet:79271 Orphanet:557494 obsolete subtype of a disorder -MONDO:0009658 mucopolysaccharidosis type 3D MONDO:8000031 Orphanet:79272 Orphanet:557494 obsolete subtype of a disorder -MONDO:0009659 mucopolysaccharidosis type 4A MONDO:8000031 Orphanet:309297 Orphanet:557494 obsolete subtype of a disorder -MONDO:0009660 mucopolysaccharidosis type 4B MONDO:8000031 Orphanet:309310 Orphanet:557494 obsolete subtype of a disorder -MONDO:0009662 mucopolysaccharidosis type 7 MONDO:0035862 Orphanet:584 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome -MONDO:0009664 mulibrey nanism MONDO:0015329 Orphanet:2576 Orphanet:139021 obsolete malformation syndrome with short stature -MONDO:0009664 mulibrey nanism MONDO:0026187 Orphanet:2576 Orphanet:183570 obsolete genetic malformation syndrome with short stature -MONDO:0009664 mulibrey nanism MONDO:8000032 Orphanet:2576 Orphanet:377789 obsolete malformation syndrome -MONDO:0009665 biotinidase deficiency MONDO:0016133 Orphanet:79241 Orphanet:207018 obsolete rare hereditary metabolic disease with peripheral neuropathy -MONDO:0009665 biotinidase deficiency MONDO:0017760 Orphanet:79241 Orphanet:309833 obsolete disorder of other vitamins and cofactors metabolism and transport -MONDO:0009668 lethal multiple pterygium syndrome MONDO:0018731 Orphanet:33108 Orphanet:459787 obsolete lethal multiple congenital anomalies/dysmorphic syndrome -MONDO:0009668 lethal multiple pterygium syndrome MONDO:8000032 Orphanet:33108 Orphanet:377789 obsolete malformation syndrome -MONDO:0009669 spinal muscular atrophy, type 1 MONDO:8000031 Orphanet:83330 Orphanet:557494 obsolete subtype of a disorder -MONDO:0009670 lethal congenital contracture syndrome 1 MONDO:0015221 Orphanet:1486 Orphanet:108993 obsolete non-syndromic respiratory or mediastinal malformation -MONDO:0009670 lethal congenital contracture syndrome 1 MONDO:0015222 Orphanet:1486 Orphanet:108995 obsolete syndromic respiratory or mediastinal malformation -MONDO:0009670 lethal congenital contracture syndrome 1 MONDO:0043008 Orphanet:1486 Orphanet:330206 obsolete genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability -MONDO:0009670 lethal congenital contracture syndrome 1 MONDO:8000032 Orphanet:1486 Orphanet:377789 obsolete malformation syndrome -MONDO:0009671 intellectual disability-myopathy-short stature-endocrine defect syndrome MONDO:0035862 Orphanet:3068 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome -MONDO:0009672 spinal muscular atrophy, type III MONDO:8000031 Orphanet:83419 Orphanet:557494 obsolete subtype of a disorder -MONDO:0009673 spinal muscular atrophy, type II MONDO:8000031 Orphanet:83418 Orphanet:557494 obsolete subtype of a disorder -MONDO:0009675 autosomal recessive limb-girdle muscular dystrophy type 2A MONDO:0016152 Orphanet:267 Orphanet:207104 obsolete qualitative or quantitative defects of calpain -MONDO:0009677 autosomal recessive limb-girdle muscular dystrophy type 2C MONDO:0016334 Orphanet:353 Orphanet:217610 obsolete neuromuscular disease with dilated cardiomyopathy -MONDO:0009678 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 MONDO:0016157 Orphanet:272 Orphanet:207122 obsolete qualitative or quantitative defects of fukutin -MONDO:0009678 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 MONDO:0017745 Orphanet:272 Orphanet:309469 obsolete disorder of O-mannosylglycan synthesis -MONDO:0009678 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 MONDO:0018132 Orphanet:272 Orphanet:352687 obsolete congenital muscular alpha-dystroglycanopathy with brain and eye anomalies -MONDO:0009678 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 MONDO:0018287 Orphanet:272 Orphanet:371071 obsolete congenital disorder of glycosylation with epilepsy as a major feature -MONDO:0009678 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 MONDO:0018296 Orphanet:272 Orphanet:371235 obsolete congenital disorder of glycosylation with developmental anomaly -MONDO:0009678 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 MONDO:0020222 Orphanet:272 Orphanet:98638 obsolete rare disease with glaucoma as a major feature -MONDO:0009678 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 MONDO:0020228 Orphanet:272 Orphanet:98644 obsolete cataract associated with a metabolic disease -MONDO:0009678 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 MONDO:0020253 Orphanet:272 Orphanet:98683 obsolete syndrome with a symptomatic strabismus -MONDO:0009678 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 MONDO:8000032 Orphanet:272 Orphanet:377789 obsolete malformation syndrome -MONDO:0009680 congenital muscular dystrophy-infantile cataract-hypogonadism syndrome MONDO:0020225 Orphanet:1875 Orphanet:98641 obsolete syndromic cataract -MONDO:0009685 Miyoshi myopathy MONDO:0016109 Orphanet:45448 Orphanet:206653 obsolete autosomal recessive distal myopathy -MONDO:0009688 myasthenia gravis MONDO:0018743 Orphanet:589 Orphanet:464764 obsolete immune-mediated acquired neuromuscular junction disease -MONDO:0009693 plasma cell myeloma MONDO:0016180 Orphanet:29073 Orphanet:209016 obsolete hematological disease associated with an acquired peripheral neuropathy -MONDO:0009696 juvenile myoclonic epilepsy MONDO:0017654 Orphanet:307 Orphanet:306759 obsolete non progressive epilepsy and/or ataxia with myoclonus as a major feature -MONDO:0009698 Unverricht-Lundborg syndrome MONDO:0035862 Orphanet:308 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome -MONDO:0009698 Unverricht-Lundborg syndrome MONDO:8000032 Orphanet:308 Orphanet:377789 obsolete malformation syndrome -MONDO:0009704 carnitine palmitoyl transferase II deficiency, myopathic form MONDO:8000031 Orphanet:228302 Orphanet:557494 obsolete subtype of a disorder -MONDO:0009706 hereditary myopathy with lactic acidosis due to ISCU deficiency MONDO:0016804 Orphanet:43115 Orphanet:254843 obsolete exercise intolerance with lactic acidosis -MONDO:0009708 myopathy, myosin storage, autosomal recessive MONDO:8000031 Orphanet:636970 Orphanet:557494 obsolete subtype of a disorder -MONDO:0009710 Thomsen and Becker disease MONDO:0016121 Orphanet:614 Orphanet:206973 obsolete congenital myotonia -MONDO:0009712 congenital multicore myopathy with external ophthalmoplegia MONDO:8000031 Orphanet:98905 Orphanet:557494 obsolete subtype of a disorder -MONDO:0009714 myosclerosis MONDO:0016110 Orphanet:289380 Orphanet:206656 obsolete non-dystrophic myopathy -MONDO:0009716 Richieri Costa-da Silva syndrome MONDO:0016121 Orphanet:3101 Orphanet:206973 obsolete congenital myotonia -MONDO:0009716 Richieri Costa-da Silva syndrome MONDO:0035863 Orphanet:3101 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0009716 Richieri Costa-da Silva syndrome MONDO:8000032 Orphanet:3101 Orphanet:377789 obsolete malformation syndrome -MONDO:0009717 Schwartz-Jampel syndrome MONDO:0016121 Orphanet:800 Orphanet:206973 obsolete congenital myotonia -MONDO:0009717 Schwartz-Jampel syndrome MONDO:0019689 Orphanet:800 Orphanet:93424 obsolete perlecan-related bone disorder -MONDO:0009717 Schwartz-Jampel syndrome MONDO:0020225 Orphanet:800 Orphanet:98641 obsolete syndromic cataract -MONDO:0009719 familial atrial myxoma MONDO:0015673 Orphanet:615 Orphanet:168194 obsolete rare cardiac tumor -MONDO:0009719 familial atrial myxoma MONDO:0017129 Orphanet:615 Orphanet:271841 obsolete inherited cardiac tumor -MONDO:0009720 Keipert syndrome MONDO:0035863 Orphanet:2662 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0009720 Keipert syndrome MONDO:0043008 Orphanet:2662 Orphanet:330206 obsolete genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability -MONDO:0009720 Keipert syndrome MONDO:8000032 Orphanet:2662 Orphanet:377789 obsolete malformation syndrome -MONDO:0009721 Nathalie syndrome MONDO:0016337 Orphanet:2663 Orphanet:217619 obsolete syndrome associated with dilated cardiomyopathy -MONDO:0009721 Nathalie syndrome MONDO:0019589 Orphanet:2663 Orphanet:90642 obsolete syndromic genetic hearing loss -MONDO:0009721 Nathalie syndrome MONDO:0020225 Orphanet:2663 Orphanet:98641 obsolete syndromic cataract -MONDO:0009721 Nathalie syndrome MONDO:8000032 Orphanet:2663 Orphanet:377789 obsolete malformation syndrome -MONDO:0009722 Bailey-Bloch congenital myopathy MONDO:0015335 Orphanet:168572 Orphanet:139039 obsolete Mendelian syndromes with cleft lip/palate -MONDO:0009722 Bailey-Bloch congenital myopathy MONDO:0018753 Orphanet:168572 Orphanet:466658 obsolete rare disease with malignant hyperthermia -MONDO:0009722 Bailey-Bloch congenital myopathy MONDO:8000032 Orphanet:168572 Orphanet:377789 obsolete malformation syndrome -MONDO:0009723 Leigh syndrome MONDO:0016402 Orphanet:506 Orphanet:225700 obsolete mitochondrial disease with epilepsy -MONDO:0009723 Leigh syndrome MONDO:0016403 Orphanet:506 Orphanet:225703 obsolete mitochondrial disease with peripheral neuropathy -MONDO:0009723 Leigh syndrome MONDO:0016578 Orphanet:506 Orphanet:2443 obsolete mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies -MONDO:0009723 Leigh syndrome MONDO:0019058 Orphanet:506 Orphanet:68385 obsolete neurometabolic disease -MONDO:0009726 proteosome-associated autoinflammatory syndrome MONDO:0017370 Orphanet:324977 Orphanet:290842 obsolete autoinflammatory syndrome with skin involvement -MONDO:0009726 proteosome-associated autoinflammatory syndrome MONDO:0018782 Orphanet:324977 Orphanet:477647 obsolete type 1 interferonopathy -MONDO:0009727 atelosteogenesis type II MONDO:0019688 Orphanet:56304 Orphanet:93423 obsolete sulfation-related bone disorder -MONDO:0009727 atelosteogenesis type II MONDO:0019697 Orphanet:56304 Orphanet:93438 obsolete mesomelic and rhizo-mesomelic dysplasia -MONDO:0009727 atelosteogenesis type II MONDO:0024149 Orphanet:56304 Orphanet:138055 obsolete Pierre Robin syndrome associated with bone disease -MONDO:0009727 atelosteogenesis type II MONDO:0035863 Orphanet:56304 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0009727 atelosteogenesis type II MONDO:8000032 Orphanet:56304 Orphanet:377789 obsolete malformation syndrome -MONDO:0009728 nephronophthisis 1 MONDO:8000031 Orphanet:93592 Orphanet:557494 obsolete subtype of a disorder -MONDO:0009729 nephropathy - deafness - hyperparathyroidism syndrome MONDO:0019589 Orphanet:2668 Orphanet:90642 obsolete syndromic genetic hearing loss -MONDO:0009729 nephropathy - deafness - hyperparathyroidism syndrome MONDO:8000032 Orphanet:2668 Orphanet:377789 obsolete malformation syndrome -MONDO:0009731 nephrosis-deafness-urinary tract-digital malformations syndrome MONDO:0015620 Orphanet:2669 Orphanet:165707 obsolete syndromic urogenital tract malformation -MONDO:0009731 nephrosis-deafness-urinary tract-digital malformations syndrome MONDO:0019589 Orphanet:2669 Orphanet:90642 obsolete syndromic genetic hearing loss -MONDO:0009731 nephrosis-deafness-urinary tract-digital malformations syndrome MONDO:0019721 Orphanet:2669 Orphanet:93547 obsolete syndromic renal or urinary tract malformation -MONDO:0009731 nephrosis-deafness-urinary tract-digital malformations syndrome MONDO:0043008 Orphanet:2669 Orphanet:330206 obsolete genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability -MONDO:0009731 nephrosis-deafness-urinary tract-digital malformations syndrome MONDO:8000032 Orphanet:2669 Orphanet:377789 obsolete malformation syndrome -MONDO:0009735 Netherton syndrome MONDO:0017271 Orphanet:634 Orphanet:281222 obsolete autosomal ichthyosis syndrome with prominent hair abnormalities -MONDO:0009736 Neu-Laxova syndrome 1 MONDO:8000031 Orphanet:583607 Orphanet:557494 obsolete subtype of a disorder -MONDO:0009737 galactosialidosis MONDO:0019058 Orphanet:351 Orphanet:68385 obsolete neurometabolic disease -MONDO:0009737 galactosialidosis MONDO:0034953 Orphanet:351 Orphanet:519325 obsolete syndromic inherited retinal disorder -MONDO:0009738 sialidosis type 2 MONDO:0019743 Orphanet:87876 Orphanet:93593 obsolete nephropathy secondary to a storage or other metabolic disease -MONDO:0009738 sialidosis type 2 MONDO:0035863 Orphanet:87876 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0009740 neurofaciodigitorenal syndrome MONDO:0019721 Orphanet:2673 Orphanet:93547 obsolete syndromic renal or urinary tract malformation -MONDO:0009740 neurofaciodigitorenal syndrome MONDO:0035863 Orphanet:2673 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0009740 neurofaciodigitorenal syndrome MONDO:8000032 Orphanet:2673 Orphanet:377789 obsolete malformation syndrome -MONDO:0009742 neuroectodermal melanolysosomal disease MONDO:0015331 Orphanet:33445 Orphanet:139027 obsolete malformation syndrome with skin/mucosae involvement -MONDO:0009742 neuroectodermal melanolysosomal disease MONDO:0015651 Orphanet:33445 Orphanet:166466 obsolete neurocutaneous syndrome with epilepsy -MONDO:0009742 neuroectodermal melanolysosomal disease MONDO:0020253 Orphanet:33445 Orphanet:98683 obsolete syndrome with a symptomatic strabismus -MONDO:0009742 neuroectodermal melanolysosomal disease MONDO:8000032 Orphanet:33445 Orphanet:377789 obsolete malformation syndrome -MONDO:0009744 neuronal ceroid lipofuscinosis 1 MONDO:8000031 Orphanet:228329 Orphanet:557494 obsolete subtype of a disorder -MONDO:0009745 neuronal ceroid lipofuscinosis 5 MONDO:8000031 Orphanet:228360 Orphanet:557494 obsolete subtype of a disorder -MONDO:0009746 hereditary sensory and autonomic neuropathy type 4 MONDO:0015366 Orphanet:642 Orphanet:140477 obsolete autosomal recessive hereditary sensory and autonomic neuropathy -MONDO:0009746 hereditary sensory and autonomic neuropathy type 4 MONDO:0035862 Orphanet:642 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome -MONDO:0009748 hereditary sensory and autonomic neuropathy with spastic paraplegia MONDO:0015089 Orphanet:139578 Orphanet:100981 obsolete autosomal recessive complex spastic paraplegia -MONDO:0009748 hereditary sensory and autonomic neuropathy with spastic paraplegia MONDO:0015366 Orphanet:139578 Orphanet:140477 obsolete autosomal recessive hereditary sensory and autonomic neuropathy -MONDO:0009749 giant axonal neuropathy 1 MONDO:0035862 Orphanet:643 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome -MONDO:0009756 Niemann-Pick disease type A MONDO:0018299 Orphanet:77292 Orphanet:371442 obsolete sphingolipidosis with epilepsy -MONDO:0009756 Niemann-Pick disease type A MONDO:0019058 Orphanet:77292 Orphanet:68385 obsolete neurometabolic disease -MONDO:0009756 Niemann-Pick disease type A MONDO:0034953 Orphanet:77292 Orphanet:519325 obsolete syndromic inherited retinal disorder -MONDO:0009756 Niemann-Pick disease type A MONDO:0035862 Orphanet:77292 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome -MONDO:0009760 Norman-Roberts syndrome MONDO:8000031 Orphanet:89844 Orphanet:557494 obsolete subtype of a disorder -MONDO:0009764 ocular motor apraxia, Cogan type MONDO:0020258 Orphanet:1125 Orphanet:98688 obsolete oculomotor apraxia or related oculomotor disease -MONDO:0009766 oculocerebral hypopigmentation syndrome of Preus MONDO:0015336 Orphanet:2720 Orphanet:139042 obsolete malformation syndrome with odontal and/or periodontal component -MONDO:0009766 oculocerebral hypopigmentation syndrome of Preus MONDO:0020225 Orphanet:2720 Orphanet:98641 obsolete syndromic cataract -MONDO:0009766 oculocerebral hypopigmentation syndrome of Preus MONDO:0026190 Orphanet:2720 Orphanet:183580 obsolete genetic malformation syndrome with odontal and/or periodontal component -MONDO:0009766 oculocerebral hypopigmentation syndrome of Preus MONDO:0035863 Orphanet:2720 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0009766 oculocerebral hypopigmentation syndrome of Preus MONDO:8000032 Orphanet:2720 Orphanet:377789 obsolete malformation syndrome -MONDO:0009767 oculocerebral hypopigmentation syndrome, Cross type MONDO:0015336 Orphanet:2719 Orphanet:139042 obsolete malformation syndrome with odontal and/or periodontal component -MONDO:0009767 oculocerebral hypopigmentation syndrome, Cross type MONDO:0020225 Orphanet:2719 Orphanet:98641 obsolete syndromic cataract -MONDO:0009767 oculocerebral hypopigmentation syndrome, Cross type MONDO:0026190 Orphanet:2719 Orphanet:183580 obsolete genetic malformation syndrome with odontal and/or periodontal component -MONDO:0009767 oculocerebral hypopigmentation syndrome, Cross type MONDO:0035863 Orphanet:2719 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0009767 oculocerebral hypopigmentation syndrome, Cross type MONDO:8000032 Orphanet:2719 Orphanet:377789 obsolete malformation syndrome -MONDO:0009769 oculo-palato-cerebral syndrome MONDO:0015335 Orphanet:2714 Orphanet:139039 obsolete Mendelian syndromes with cleft lip/palate -MONDO:0009769 oculo-palato-cerebral syndrome MONDO:0020225 Orphanet:2714 Orphanet:98641 obsolete syndromic cataract -MONDO:0009769 oculo-palato-cerebral syndrome MONDO:0035863 Orphanet:2714 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0009769 oculo-palato-cerebral syndrome MONDO:8000032 Orphanet:2714 Orphanet:377789 obsolete malformation syndrome -MONDO:0009771 oculotrichodysplasia MONDO:0020240 Orphanet:2718 Orphanet:98661 obsolete syndromic retinitis pigmentosa -MONDO:0009771 oculotrichodysplasia MONDO:8000032 Orphanet:2718 Orphanet:377789 obsolete malformation syndrome -MONDO:0009772 oculorenocerebellar syndrome MONDO:0020253 Orphanet:2715 Orphanet:98683 obsolete syndrome with a symptomatic strabismus -MONDO:0009772 oculorenocerebellar syndrome MONDO:0034953 Orphanet:2715 Orphanet:519325 obsolete syndromic inherited retinal disorder -MONDO:0009772 oculorenocerebellar syndrome MONDO:0035863 Orphanet:2715 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0009772 oculorenocerebellar syndrome MONDO:8000032 Orphanet:2715 Orphanet:377789 obsolete malformation syndrome -MONDO:0009773 odonto-onycho-dermal dysplasia MONDO:0015336 Orphanet:2721 Orphanet:139042 obsolete malformation syndrome with odontal and/or periodontal component -MONDO:0009773 odonto-onycho-dermal dysplasia MONDO:0017671 Orphanet:2721 Orphanet:307804 obsolete autosomal recessive disease with diffuse palmoplantar keratoderma as a major feature -MONDO:0009773 odonto-onycho-dermal dysplasia MONDO:0026190 Orphanet:2721 Orphanet:183580 obsolete genetic malformation syndrome with odontal and/or periodontal component -MONDO:0009774 cloacal exstrophy MONDO:0015246 Orphanet:93929 Orphanet:117573 obsolete syndromic anorectal malformation -MONDO:0009774 cloacal exstrophy MONDO:8000031 Orphanet:93929 Orphanet:557494 obsolete subtype of a disorder -MONDO:0009777 Oliver syndrome MONDO:0017434 Orphanet:2920 Orphanet:294959 obsolete syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy -MONDO:0009777 Oliver syndrome MONDO:0035863 Orphanet:2920 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0009777 Oliver syndrome MONDO:8000032 Orphanet:2920 Orphanet:377789 obsolete malformation syndrome -MONDO:0009779 autosomal recessive omodysplasia MONDO:8000031 Orphanet:93329 Orphanet:557494 obsolete subtype of a disorder -MONDO:0009780 lethal omphalocele-cleft palate syndrome MONDO:0015216 Orphanet:2736 Orphanet:108979 obsolete syndromic diaphragmatic or abdominal wall malformation -MONDO:0009780 lethal omphalocele-cleft palate syndrome MONDO:0015335 Orphanet:2736 Orphanet:139039 obsolete Mendelian syndromes with cleft lip/palate -MONDO:0009780 lethal omphalocele-cleft palate syndrome MONDO:0035863 Orphanet:2736 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0009780 lethal omphalocele-cleft palate syndrome MONDO:8000032 Orphanet:2736 Orphanet:377789 obsolete malformation syndrome -MONDO:0009787 3-methylglutaconic aciduria type 3 MONDO:0018609 Orphanet:67047 Orphanet:441434 obsolete syndromic hereditary optic neuropathy -MONDO:0009792 ichthyosis-oral and digital anomalies syndrome MONDO:0015331 Orphanet:2272 Orphanet:139027 obsolete malformation syndrome with skin/mucosae involvement -MONDO:0009792 ichthyosis-oral and digital anomalies syndrome MONDO:0029102 Orphanet:2272 Orphanet:281244 obsolete autosomal ichthyosis syndrome with other associated signs -MONDO:0009792 ichthyosis-oral and digital anomalies syndrome MONDO:0043008 Orphanet:2272 Orphanet:330206 obsolete genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability -MONDO:0009792 ichthyosis-oral and digital anomalies syndrome MONDO:8000032 Orphanet:2272 Orphanet:377789 obsolete malformation syndrome -MONDO:0009793 orofaciodigital syndrome III MONDO:0019589 Orphanet:2752 Orphanet:90642 obsolete syndromic genetic hearing loss -MONDO:0009793 orofaciodigital syndrome III MONDO:0035863 Orphanet:2752 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0009793 orofaciodigital syndrome III MONDO:8000032 Orphanet:2752 Orphanet:377789 obsolete malformation syndrome -MONDO:0009794 orofaciodigital syndrome IV MONDO:0019589 Orphanet:2753 Orphanet:90642 obsolete syndromic genetic hearing loss -MONDO:0009794 orofaciodigital syndrome IV MONDO:0035863 Orphanet:2753 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0009794 orofaciodigital syndrome IV MONDO:8000032 Orphanet:2753 Orphanet:377789 obsolete malformation syndrome -MONDO:0009795 orofaciodigital syndrome IX MONDO:0034953 Orphanet:141007 Orphanet:519325 obsolete syndromic inherited retinal disorder -MONDO:0009795 orofaciodigital syndrome IX MONDO:8000032 Orphanet:141007 Orphanet:377789 obsolete malformation syndrome -MONDO:0009796 ornithine aminotransferase deficiency MONDO:0016133 Orphanet:414 Orphanet:207018 obsolete rare hereditary metabolic disease with peripheral neuropathy -MONDO:0009796 ornithine aminotransferase deficiency MONDO:0020228 Orphanet:414 Orphanet:98644 obsolete cataract associated with a metabolic disease -MONDO:0009797 orotic aciduria MONDO:0035862 Orphanet:30 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome -MONDO:0009798 Primrose syndrome MONDO:0020225 Orphanet:3042 Orphanet:98641 obsolete syndromic cataract -MONDO:0009798 Primrose syndrome MONDO:0035863 Orphanet:3042 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0009798 Primrose syndrome MONDO:8000032 Orphanet:3042 Orphanet:377789 obsolete malformation syndrome -MONDO:0009801 familial osteodysplasia, Anderson type MONDO:0800085 Orphanet:2769 Orphanet:93453 obsolete dysostosis with predominant craniofacial involvement -MONDO:0009801 familial osteodysplasia, Anderson type MONDO:8000032 Orphanet:2769 Orphanet:377789 obsolete malformation syndrome -MONDO:0009803 congenital osteogenesis imperfecta-microcephaly-cataracts syndrome MONDO:0019704 Orphanet:2772 Orphanet:93446 obsolete primary bone dysplasia with decreased bone density -MONDO:0009803 congenital osteogenesis imperfecta-microcephaly-cataracts syndrome MONDO:0020225 Orphanet:2772 Orphanet:98641 obsolete syndromic cataract -MONDO:0009803 congenital osteogenesis imperfecta-microcephaly-cataracts syndrome MONDO:8000032 Orphanet:2772 Orphanet:377789 obsolete malformation syndrome -MONDO:0009804 osteogenesis imperfecta type 3 MONDO:0015669 Orphanet:216812 Orphanet:167762 obsolete rare disease with dentinogenesis imperfecta -MONDO:0009804 osteogenesis imperfecta type 3 MONDO:8000031 Orphanet:216812 Orphanet:557494 obsolete subtype of a disorder -MONDO:0009810 autosomal recessive distal osteolysis syndrome MONDO:0035863 Orphanet:2776 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0009810 autosomal recessive distal osteolysis syndrome MONDO:8000032 Orphanet:2776 Orphanet:377789 obsolete malformation syndrome -MONDO:0009813 chronic recurrent multifocal osteomyelitis MONDO:0017370 Orphanet:324964 Orphanet:290842 obsolete autoinflammatory syndrome with skin involvement -MONDO:0009813 chronic recurrent multifocal osteomyelitis MONDO:0017954 Orphanet:324964 Orphanet:324927 obsolete pyogenic autoinflammatory syndrome -MONDO:0009814 osteopenia-intellectual disability-sparse hair syndrome MONDO:0019704 Orphanet:2324 Orphanet:93446 obsolete primary bone dysplasia with decreased bone density -MONDO:0009814 osteopenia-intellectual disability-sparse hair syndrome MONDO:0035863 Orphanet:2324 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0009814 osteopenia-intellectual disability-sparse hair syndrome MONDO:8000032 Orphanet:2324 Orphanet:377789 obsolete malformation syndrome -MONDO:0009818 autosomal recessive osteopetrosis 3 MONDO:0017828 Orphanet:2785 Orphanet:314822 obsolete primary renal tubular acidosis -MONDO:0009818 autosomal recessive osteopetrosis 3 MONDO:0035862 Orphanet:2785 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome -MONDO:0009820 osteoporosis-pseudoglioma syndrome MONDO:0019704 Orphanet:2788 Orphanet:93446 obsolete primary bone dysplasia with decreased bone density -MONDO:0009820 osteoporosis-pseudoglioma syndrome MONDO:0020225 Orphanet:2788 Orphanet:98641 obsolete syndromic cataract -MONDO:0009820 osteoporosis-pseudoglioma syndrome MONDO:0034954 Orphanet:2788 Orphanet:519327 obsolete syndromic vitreoretinopathy -MONDO:0009820 osteoporosis-pseudoglioma syndrome MONDO:0035863 Orphanet:2788 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0009821 lethal osteosclerotic bone dysplasia MONDO:8000032 Orphanet:1832 Orphanet:377789 obsolete malformation syndrome -MONDO:0009822 otoonychoperoneal syndrome MONDO:0018235 Orphanet:2793 Orphanet:364568 obsolete dysostosis with limb anomaly as a major feature -MONDO:0009822 otoonychoperoneal syndrome MONDO:0018455 Orphanet:2793 Orphanet:404571 obsolete dysostosis of genetic origin with limb anomaly as a major feature -MONDO:0009822 otoonychoperoneal syndrome MONDO:0019285 Orphanet:2793 Orphanet:79370 obsolete syndromic nail anomaly -MONDO:0009822 otoonychoperoneal syndrome MONDO:0043008 Orphanet:2793 Orphanet:330206 obsolete genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability -MONDO:0009822 otoonychoperoneal syndrome MONDO:8000032 Orphanet:2793 Orphanet:377789 obsolete malformation syndrome -MONDO:0009823 primary hyperoxaluria type 1 MONDO:0017753 Orphanet:93598 Orphanet:309810 obsolete disorder of peroxisomal alpha-, beta- and omega-oxidation -MONDO:0009823 primary hyperoxaluria type 1 MONDO:0034953 Orphanet:93598 Orphanet:519325 obsolete syndromic inherited retinal disorder -MONDO:0009823 primary hyperoxaluria type 1 MONDO:8000031 Orphanet:93598 Orphanet:557494 obsolete subtype of a disorder -MONDO:0009824 primary hyperoxaluria type 2 MONDO:8000031 Orphanet:93599 Orphanet:557494 obsolete subtype of a disorder -MONDO:0009830 parkinsonian-pyramidal syndrome MONDO:0017635 Orphanet:171695 Orphanet:306666 obsolete parkinsonian syndrome due to neurodegenerative disease -MONDO:0009830 parkinsonian-pyramidal syndrome MONDO:0017661 Orphanet:171695 Orphanet:307055 obsolete rare parkinsonian syndrome due to genetic neurodegenerative disease -MONDO:0009832 pancreatic agenesis MONDO:0015213 Orphanet:2805 Orphanet:108971 obsolete non-syndromic visceral malformation -MONDO:0009832 pancreatic agenesis MONDO:8000030 Orphanet:2805 Orphanet:377791 obsolete morphological anomaly -MONDO:0009833 Shwachman-Diamond syndrome MONDO:0015112 Orphanet:811 Orphanet:101937 obsolete rare pancreatic disease -MONDO:0009833 Shwachman-Diamond syndrome MONDO:0015618 Orphanet:811 Orphanet:165661 obsolete genetic pancreatic disease -MONDO:0009833 Shwachman-Diamond syndrome MONDO:0015945 Orphanet:811 Orphanet:183422 obsolete polymalformative genetic syndrome with increased risk of developing cancer -MONDO:0009833 Shwachman-Diamond syndrome MONDO:0019693 Orphanet:811 Orphanet:93430 obsolete multiple metaphyseal dysplasia -MONDO:0009833 Shwachman-Diamond syndrome MONDO:0035863 Orphanet:811 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0009835 subacute sclerosing panencephalitis MONDO:0015659 Orphanet:2806 Orphanet:166490 obsolete infectious disease with epilepsy -MONDO:0009835 subacute sclerosing panencephalitis MONDO:0020069 Orphanet:2806 Orphanet:98255 obsolete chronic encephalitis -MONDO:0009838 Parana hard-skin syndrome MONDO:0019299 Orphanet:2812 Orphanet:79385 obsolete unclassified genetic skin disorder -MONDO:0009839 progressive supranuclear palsy-parkinsonism syndrome MONDO:0017635 Orphanet:240085 Orphanet:306666 obsolete parkinsonian syndrome due to neurodegenerative disease -MONDO:0009841 PEHO syndrome MONDO:0015918 Orphanet:2836 Orphanet:182070 obsolete rare neurodegenerative disease -MONDO:0009841 PEHO syndrome MONDO:0018609 Orphanet:2836 Orphanet:441434 obsolete syndromic hereditary optic neuropathy -MONDO:0009841 PEHO syndrome MONDO:0035471 Orphanet:2836 Orphanet:568047 obsolete disorder with multisystemic involvement and primary lymphedema -MONDO:0009843 hypomyelinating leukodystrophy 3 MONDO:8000031 Orphanet:280293 Orphanet:557494 obsolete subtype of a disorder -MONDO:0009845 pelviscapular dysplasia MONDO:0017432 Orphanet:93333 Orphanet:294955 obsolete syndrome with limb reduction defects -MONDO:0009845 pelviscapular dysplasia MONDO:8000032 Orphanet:93333 Orphanet:377789 obsolete malformation syndrome -MONDO:0009849 hyperimmunoglobulinemia D with periodic fever MONDO:0017369 Orphanet:343 Orphanet:290839 obsolete autoinflammatory syndrome with immune deficiency -MONDO:0009849 hyperimmunoglobulinemia D with periodic fever MONDO:8000031 Orphanet:343 Orphanet:557494 obsolete subtype of a disorder -MONDO:0009852 hereditary intrinsic factor deficiency MONDO:0020109 Orphanet:332 Orphanet:98396 obsolete constitutional megaloblastic anemia due to vitamin B12 metabolism disorder -MONDO:0009853 Imerslund-Grasbeck syndrome MONDO:0015179 Orphanet:35858 Orphanet:104004 obsolete intestinal disease due to vitamin absorption anomaly -MONDO:0009853 Imerslund-Grasbeck syndrome MONDO:0019743 Orphanet:35858 Orphanet:93593 obsolete nephropathy secondary to a storage or other metabolic disease -MONDO:0009853 Imerslund-Grasbeck syndrome MONDO:0020109 Orphanet:35858 Orphanet:98396 obsolete constitutional megaloblastic anemia due to vitamin B12 metabolism disorder -MONDO:0009856 Peters plus syndrome MONDO:0018284 Orphanet:709 Orphanet:371047 obsolete congenital disorder of glycosylation with neurological involvement -MONDO:0009856 Peters plus syndrome MONDO:0018290 Orphanet:709 Orphanet:371183 obsolete congenital disorder of glycosylation with cardiac malformation as a major feature -MONDO:0009856 Peters plus syndrome MONDO:0020222 Orphanet:709 Orphanet:98638 obsolete rare disease with glaucoma as a major feature -MONDO:0009856 Peters plus syndrome MONDO:0020228 Orphanet:709 Orphanet:98644 obsolete cataract associated with a metabolic disease -MONDO:0009856 Peters plus syndrome MONDO:0035863 Orphanet:709 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0009856 Peters plus syndrome MONDO:8000032 Orphanet:709 Orphanet:377789 obsolete malformation syndrome -MONDO:0009857 persistent Mullerian duct syndrome MONDO:0017969 Orphanet:2856 Orphanet:325351 obsolete 46,XY disorder of sex development of endocrine origin -MONDO:0009857 persistent Mullerian duct syndrome MONDO:0018396 Orphanet:2856 Orphanet:399824 obsolete rare male fertility disorder with obstructive azoospermia -MONDO:0009857 persistent Mullerian duct syndrome MONDO:0018409 Orphanet:2856 Orphanet:400003 obsolete rare genetic disorder with obstructive azoospermia -MONDO:0009857 persistent Mullerian duct syndrome MONDO:8000032 Orphanet:2856 Orphanet:377789 obsolete malformation syndrome -MONDO:0009858 Pfeiffer-Palm-Teller syndrome MONDO:0035863 Orphanet:2871 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0009858 Pfeiffer-Palm-Teller syndrome MONDO:8000032 Orphanet:2871 Orphanet:377789 obsolete malformation syndrome -MONDO:0009859 PHAVER syndrome MONDO:0043008 Orphanet:2876 Orphanet:330206 obsolete genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability -MONDO:0009859 PHAVER syndrome MONDO:8000032 Orphanet:2876 Orphanet:377789 obsolete malformation syndrome -MONDO:0009861 phenylketonuria MONDO:0016399 Orphanet:716 Orphanet:225689 obsolete amino acid or protein metabolism disease with epilepsy -MONDO:0009861 phenylketonuria MONDO:0019058 Orphanet:716 Orphanet:68385 obsolete neurometabolic disease -MONDO:0009862 dihydropteridine reductase deficiency MONDO:8000031 Orphanet:226 Orphanet:557494 obsolete subtype of a disorder -MONDO:0009863 BH4-deficient hyperphenylalaninemia A MONDO:8000031 Orphanet:13 Orphanet:557494 obsolete subtype of a disorder -MONDO:0009865 glycogen storage disease due to phosphoglycerate mutase deficiency MONDO:0016118 Orphanet:97234 Orphanet:206959 obsolete muscular glycogenosis -MONDO:0009867 lethal congenital glycogen storage disease of heart MONDO:0016325 Orphanet:439854 Orphanet:217572 obsolete glycogen storage disease with hypertrophic cardiomyopathy -MONDO:0009868 glycogen storage disease IXb MONDO:0015115 Orphanet:79240 Orphanet:101940 obsolete rare genetic metabolic liver disease -MONDO:0009868 glycogen storage disease IXb MONDO:0016118 Orphanet:79240 Orphanet:206959 obsolete muscular glycogenosis -MONDO:0009868 glycogen storage disease IXb MONDO:0018251 Orphanet:79240 Orphanet:370 obsolete glycogen storage disease due to phosphorylase kinase deficiency -MONDO:0009869 isolated Pierre-Robin syndrome MONDO:0015501 Orphanet:718 Orphanet:156237 obsolete syndrome or malformation associated with head and neck malformations -MONDO:0009869 isolated Pierre-Robin syndrome MONDO:8000032 Orphanet:718 Orphanet:377789 obsolete malformation syndrome -MONDO:0009870 pili torti MONDO:0019281 Orphanet:2889 Orphanet:79366 obsolete isolated genetic hair shaft abnormality -MONDO:0009871 pili torti-developmental delay-neurological abnormalities syndrome MONDO:0019282 Orphanet:2891 Orphanet:79367 obsolete syndromic hair shaft abnormality -MONDO:0009871 pili torti-developmental delay-neurological abnormalities syndrome MONDO:8000032 Orphanet:2891 Orphanet:377789 obsolete malformation syndrome -MONDO:0009872 Bjornstad syndrome MONDO:0017718 Orphanet:123 Orphanet:309136 obsolete mitochondrial disorder due to a defect in assembly or maturation of the respiratory chain complexes -MONDO:0009872 Bjornstad syndrome MONDO:0019282 Orphanet:123 Orphanet:79367 obsolete syndromic hair shaft abnormality -MONDO:0009872 Bjornstad syndrome MONDO:0035862 Orphanet:123 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome -MONDO:0009873 pilodental dysplasia-refractive errors syndrome MONDO:0015336 Orphanet:2892 Orphanet:139042 obsolete malformation syndrome with odontal and/or periodontal component -MONDO:0009873 pilodental dysplasia-refractive errors syndrome MONDO:0026190 Orphanet:2892 Orphanet:183580 obsolete genetic malformation syndrome with odontal and/or periodontal component -MONDO:0009873 pilodental dysplasia-refractive errors syndrome MONDO:8000032 Orphanet:2892 Orphanet:377789 obsolete malformation syndrome -MONDO:0009874 Rabson-Mendenhall syndrome MONDO:0015885 Orphanet:769 Orphanet:181368 obsolete rare insulin-resistance syndrome -MONDO:0009874 Rabson-Mendenhall syndrome MONDO:8000032 Orphanet:769 Orphanet:377789 obsolete malformation syndrome -MONDO:0009876 isolated growth hormone deficiency type IA MONDO:8000031 Orphanet:231662 Orphanet:557494 obsolete subtype of a disorder -MONDO:0009879 short stature due to growth hormone qualitative anomaly MONDO:8000031 Orphanet:629 Orphanet:557494 obsolete subtype of a disorder -MONDO:0009880 short stature-pituitary and cerebellar defects-small sella turcica syndrome MONDO:0019827 Orphanet:85442 Orphanet:95495 obsolete disease associated with non-acquired combined pituitary hormone deficiency -MONDO:0009883 alpha-2-plasmin inhibitor deficiency MONDO:0019039 Orphanet:79 Orphanet:68334 obsolete rare hemorrhagic disorder due to a constitutional coagulation factors defect -MONDO:0009883 alpha-2-plasmin inhibitor deficiency MONDO:0027751 Orphanet:79 Orphanet:250811 obsolete serpinopathy with loss of serpin function -MONDO:0009885 Scott syndrome MONDO:0017142 Orphanet:806 Orphanet:275736 obsolete hemorrhagic disorder due to a qualitative platelet defect -MONDO:0009889 autosomal recessive polycystic kidney disease MONDO:0015114 Orphanet:731 Orphanet:101939 obsolete rare parenchymal liver disease -MONDO:0009889 autosomal recessive polycystic kidney disease MONDO:0015508 Orphanet:731 Orphanet:156604 obsolete hereditary parenchymatous liver disease -MONDO:0009889 autosomal recessive polycystic kidney disease MONDO:0018396 Orphanet:731 Orphanet:399824 obsolete rare male fertility disorder with obstructive azoospermia -MONDO:0009889 autosomal recessive polycystic kidney disease MONDO:0018409 Orphanet:731 Orphanet:400003 obsolete rare genetic disorder with obstructive azoospermia -MONDO:0009889 autosomal recessive polycystic kidney disease MONDO:0022409 Orphanet:731 Orphanet:156162 obsolete nephropathy-associated ciliopathy -MONDO:0009895 postaxial polydactyly-dental and vertebral anomalies syndrome MONDO:0015336 Orphanet:2916 Orphanet:139042 obsolete malformation syndrome with odontal and/or periodontal component -MONDO:0009895 postaxial polydactyly-dental and vertebral anomalies syndrome MONDO:0026190 Orphanet:2916 Orphanet:183580 obsolete genetic malformation syndrome with odontal and/or periodontal component -MONDO:0009895 postaxial polydactyly-dental and vertebral anomalies syndrome MONDO:8000032 Orphanet:2916 Orphanet:377789 obsolete malformation syndrome -MONDO:0009897 adult polyglucosan body disease MONDO:0016133 Orphanet:206583 Orphanet:207018 obsolete rare hereditary metabolic disease with peripheral neuropathy -MONDO:0009897 adult polyglucosan body disease MONDO:8000031 Orphanet:206583 Orphanet:557494 obsolete subtype of a disorder -MONDO:0009900 polysyndactyly-cardiac malformation syndrome MONDO:0043008 Orphanet:2934 Orphanet:330206 obsolete genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability -MONDO:0009900 polysyndactyly-cardiac malformation syndrome MONDO:8000032 Orphanet:2934 Orphanet:377789 obsolete malformation syndrome -MONDO:0009901 Bartsocas-Papas syndrome 1 MONDO:0018731 Orphanet:1234 Orphanet:459787 obsolete lethal multiple congenital anomalies/dysmorphic syndrome -MONDO:0009901 Bartsocas-Papas syndrome 1 MONDO:0020157 Orphanet:1234 Orphanet:98566 obsolete syndromic palpebral coloboma -MONDO:0009901 Bartsocas-Papas syndrome 1 MONDO:8000032 Orphanet:1234 Orphanet:377789 obsolete malformation syndrome -MONDO:0009902 cutaneous porphyria MONDO:0020104 Orphanet:79277 Orphanet:98369 obsolete rare constitutional hemolytic anemia due to an enzyme disorder -MONDO:0009903 postaxial acrofacial dysostosis MONDO:0015334 Orphanet:246 Orphanet:139036 obsolete branchial arch or oral-acral syndrome -MONDO:0009903 postaxial acrofacial dysostosis MONDO:0015501 Orphanet:246 Orphanet:156237 obsolete syndrome or malformation associated with head and neck malformations -MONDO:0009903 postaxial acrofacial dysostosis MONDO:0020157 Orphanet:246 Orphanet:98566 obsolete syndromic palpebral coloboma -MONDO:0009903 postaxial acrofacial dysostosis MONDO:0020162 Orphanet:246 Orphanet:98571 obsolete secondary ectropion -MONDO:0009903 postaxial acrofacial dysostosis MONDO:0026189 Orphanet:246 Orphanet:183576 obsolete genetic branchial arch or oral-acral syndrome -MONDO:0009903 postaxial acrofacial dysostosis MONDO:0043008 Orphanet:246 Orphanet:330206 obsolete genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability -MONDO:0009903 postaxial acrofacial dysostosis MONDO:8000032 Orphanet:246 Orphanet:377789 obsolete malformation syndrome -MONDO:0009904 Gitelman syndrome MONDO:0019744 Orphanet:358 Orphanet:93603 obsolete rare renal tubular disease -MONDO:0009905 urban-Rogers-Meyer syndrome MONDO:0035863 Orphanet:3409 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0009905 urban-Rogers-Meyer syndrome MONDO:8000032 Orphanet:3409 Orphanet:377789 obsolete malformation syndrome -MONDO:0009908 pterin-4 alpha-carbinolamine dehydratase 1 deficiency MONDO:8000031 Orphanet:1578 Orphanet:557494 obsolete subtype of a disorder -MONDO:0009910 Wiedemann-Rautenstrauch syndrome MONDO:0015331 Orphanet:3455 Orphanet:139027 obsolete malformation syndrome with skin/mucosae involvement -MONDO:0009910 Wiedemann-Rautenstrauch syndrome MONDO:0031689 Orphanet:3455 Orphanet:363245 obsolete genetic progeroid syndrome -MONDO:0009910 Wiedemann-Rautenstrauch syndrome MONDO:0035863 Orphanet:3455 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0009910 Wiedemann-Rautenstrauch syndrome MONDO:8000032 Orphanet:3455 Orphanet:377789 obsolete malformation syndrome -MONDO:0009914 pseudodiastrophic dysplasia MONDO:0015332 Orphanet:85174 Orphanet:139030 obsolete rare developmental defect with connective tissue involvement -MONDO:0009914 pseudodiastrophic dysplasia MONDO:0800086 Orphanet:85174 Orphanet:93441 obsolete primary bone dysplasia with multiple joint dislocations -MONDO:0009914 pseudodiastrophic dysplasia MONDO:8000032 Orphanet:85174 Orphanet:377789 obsolete malformation syndrome -MONDO:0009915 46,XX disorder of sex development-skeletal anomalies syndrome MONDO:0017965 Orphanet:2975 Orphanet:325109 obsolete syndrome with 46,XX disorder of sex development -MONDO:0009915 46,XX disorder of sex development-skeletal anomalies syndrome MONDO:0017978 Orphanet:2975 Orphanet:325638 obsolete syndrome with disorder of sex development of gynecological interest -MONDO:0009915 46,XX disorder of sex development-skeletal anomalies syndrome MONDO:8000032 Orphanet:2975 Orphanet:377789 obsolete malformation syndrome -MONDO:0009916 46,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency MONDO:0018388 Orphanet:752 Orphanet:399685 obsolete rare male infertility due to testicular endocrine disorder -MONDO:0009916 46,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency MONDO:0018400 Orphanet:752 Orphanet:399849 obsolete rare female infertility due to an adrenal disorder -MONDO:0009916 46,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency MONDO:0018412 Orphanet:752 Orphanet:400018 obsolete rare female infertility due to adrenal disorder of genetic origin -MONDO:0009916 46,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency MONDO:0019596 Orphanet:752 Orphanet:90787 obsolete 46,XY disorder of sex development due to testicular steroidogenesis defect -MONDO:0009917 autosomal recessive pseudohypoaldosteronism type 1 MONDO:8000031 Orphanet:171876 Orphanet:557494 obsolete subtype of a disorder -MONDO:0009919 peroxisomal acyl-CoA oxidase deficiency MONDO:0016398 Orphanet:2971 Orphanet:225686 obsolete peroxisomal disease with epilepsy -MONDO:0009919 peroxisomal acyl-CoA oxidase deficiency MONDO:0035862 Orphanet:2971 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome -MONDO:0009920 Acrootoocular syndrome MONDO:0008331 Orphanet:2980 Orphanet:519339 obsolete pseudopapilledema -MONDO:0009920 Acrootoocular syndrome MONDO:0020169 Orphanet:2980 Orphanet:98578 obsolete rare disorder with ptosis -MONDO:0009920 Acrootoocular syndrome MONDO:8000032 Orphanet:2980 Orphanet:377789 obsolete malformation syndrome -MONDO:0009921 holoprosencephaly-postaxial polydactyly syndrome MONDO:0035863 Orphanet:2166 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0009921 holoprosencephaly-postaxial polydactyly syndrome MONDO:8000032 Orphanet:2166 Orphanet:377789 obsolete malformation syndrome -MONDO:0009923 46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency MONDO:0018388 Orphanet:753 Orphanet:399685 obsolete rare male infertility due to testicular endocrine disorder -MONDO:0009923 46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency MONDO:0020041 Orphanet:753 Orphanet:98086 obsolete 46,XY disorder of sex development due to a defect in testosterone metabolism by peripheral tissue -MONDO:0009925 autosomal recessive inherited pseudoxanthoma elasticum MONDO:0015331 Orphanet:758 Orphanet:139027 obsolete malformation syndrome with skin/mucosae involvement -MONDO:0009925 autosomal recessive inherited pseudoxanthoma elasticum MONDO:0015332 Orphanet:758 Orphanet:139030 obsolete rare developmental defect with connective tissue involvement -MONDO:0009925 autosomal recessive inherited pseudoxanthoma elasticum MONDO:0015512 Orphanet:758 Orphanet:156629 obsolete genetic hypertension -MONDO:0009925 autosomal recessive inherited pseudoxanthoma elasticum MONDO:0015953 Orphanet:758 Orphanet:183503 obsolete genetic central nervous system and retinal vascular disease -MONDO:0009925 autosomal recessive inherited pseudoxanthoma elasticum MONDO:0019110 Orphanet:758 Orphanet:71281 obsolete rare central nervous system or retinal vascular disease -MONDO:0009925 autosomal recessive inherited pseudoxanthoma elasticum MONDO:0034953 Orphanet:758 Orphanet:519325 obsolete syndromic inherited retinal disorder -MONDO:0009926 autosomal recessive multiple pterygium syndrome MONDO:0043008 Orphanet:2990 Orphanet:330206 obsolete genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability -MONDO:0009926 autosomal recessive multiple pterygium syndrome MONDO:8000032 Orphanet:2990 Orphanet:377789 obsolete malformation syndrome -MONDO:0009928 pulmonary alveolar microlithiasis MONDO:0015510 Orphanet:60025 Orphanet:156610 obsolete rare genetic respiratory disease -MONDO:0009928 pulmonary alveolar microlithiasis MONDO:0020000 Orphanet:60025 Orphanet:97955 obsolete rare respiratory disease -MONDO:0009929 neonatal acute respiratory distress due to SP-B deficiency MONDO:0015052 Orphanet:217563 Orphanet:100049 obsolete primary interstitial lung disease specific to childhood due to pulmonary surfactant protein anomalies -MONDO:0009930 obsolete pulmonary arteriovenous malformation MONDO:0015221 Orphanet:2038 Orphanet:108993 obsolete non-syndromic respiratory or mediastinal malformation -MONDO:0009930 obsolete pulmonary arteriovenous malformation MONDO:0015930 Orphanet:2038 Orphanet:182111 obsolete respiratory malformation -MONDO:0009930 obsolete pulmonary arteriovenous malformation MONDO:0016234 Orphanet:2038 Orphanet:211266 obsolete rare arteriovenous malformation -MONDO:0009930 obsolete pulmonary arteriovenous malformation MONDO:8000030 Orphanet:2038 Orphanet:377791 obsolete morphological anomaly -MONDO:0009931 pulmonary atresia-intact ventricular septum syndrome MONDO:0020287 Orphanet:1208 Orphanet:98719 obsolete pulmonary artery or pulmonary branch anomaly -MONDO:0009931 pulmonary atresia-intact ventricular septum syndrome MONDO:8000030 Orphanet:1208 Orphanet:377791 obsolete morphological anomaly -MONDO:0009933 congenital pulmonary lymphangiectasia MONDO:0015221 Orphanet:2414 Orphanet:108993 obsolete non-syndromic respiratory or mediastinal malformation -MONDO:0009933 congenital pulmonary lymphangiectasia MONDO:0015930 Orphanet:2414 Orphanet:182111 obsolete respiratory malformation -MONDO:0009933 congenital pulmonary lymphangiectasia MONDO:0017017 Orphanet:2414 Orphanet:264683 obsolete primary interstitial lung disease specific to childhood due to alveolar vascular disorder -MONDO:0009933 congenital pulmonary lymphangiectasia MONDO:0028569 Orphanet:2414 Orphanet:264992 obsolete genetic interstitial lung disease -MONDO:0009934 alveolar capillary dysplasia with misalignment of pulmonary veins MONDO:0017017 Orphanet:210122 Orphanet:264683 obsolete primary interstitial lung disease specific to childhood due to alveolar vascular disorder -MONDO:0009934 alveolar capillary dysplasia with misalignment of pulmonary veins MONDO:0028569 Orphanet:210122 Orphanet:264992 obsolete genetic interstitial lung disease -MONDO:0009936 familial primary pulmonary hypoplasia MONDO:0015221 Orphanet:2257 Orphanet:108993 obsolete non-syndromic respiratory or mediastinal malformation -MONDO:0009936 familial primary pulmonary hypoplasia MONDO:0015930 Orphanet:2257 Orphanet:182111 obsolete respiratory malformation -MONDO:0009936 familial primary pulmonary hypoplasia MONDO:0026203 Orphanet:2257 Orphanet:183622 obsolete genetic respiratory malformation -MONDO:0009936 familial primary pulmonary hypoplasia MONDO:8000030 Orphanet:2257 Orphanet:377791 obsolete morphological anomaly -MONDO:0009942 pyknoachondrogenesis MONDO:0019718 Orphanet:3003 Orphanet:93465 obsolete lethal chondrodysplasia -MONDO:0009942 pyknoachondrogenesis MONDO:8000032 Orphanet:3003 Orphanet:377789 obsolete malformation syndrome -MONDO:0009943 Pyle disease MONDO:0800084 Orphanet:3005 Orphanet:93444 obsolete primary bone dysplasia with increased bone density -MONDO:0009945 pyridoxine-dependent epilepsy MONDO:0016404 Orphanet:3006 Orphanet:225707 obsolete metabolic neurotransmission anomaly with epilepsy -MONDO:0009945 pyridoxine-dependent epilepsy MONDO:0019058 Orphanet:3006 Orphanet:68385 obsolete neurometabolic disease -MONDO:0009945 pyridoxine-dependent epilepsy MONDO:0035862 Orphanet:3006 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome -MONDO:0009946 hemolytic anemia due to pyrimidine 5' nucleotidase deficiency MONDO:0020107 Orphanet:35120 Orphanet:98374 obsolete hemolytic anemia due to an erythrocyte nucleotide metabolism disorder -MONDO:0009947 glutathione synthetase deficiency with 5-oxoprolinuria MONDO:8000031 Orphanet:289846 Orphanet:557494 obsolete subtype of a disorder -MONDO:0009949 pyruvate carboxylase deficiency disease MONDO:0035862 Orphanet:3008 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome -MONDO:0009950 pyruvate kinase deficiency of red cells MONDO:0020106 Orphanet:766 Orphanet:98372 obsolete hemolytic anemia due to a disorder of glycolytic enzymes -MONDO:0009952 radioulnar synostosis-developmental delay-hypotonia syndrome MONDO:0020253 Orphanet:3270 Orphanet:98683 obsolete syndrome with a symptomatic strabismus -MONDO:0009952 radioulnar synostosis-developmental delay-hypotonia syndrome MONDO:0035863 Orphanet:3270 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0009952 radioulnar synostosis-developmental delay-hypotonia syndrome MONDO:0800095 Orphanet:3270 Orphanet:93459 obsolete syndrome with synostosis or other joint formation defect -MONDO:0009952 radioulnar synostosis-developmental delay-hypotonia syndrome MONDO:8000032 Orphanet:3270 Orphanet:377789 obsolete malformation syndrome -MONDO:0009953 leukocyte adhesion deficiency type II MONDO:0018287 Orphanet:99843 Orphanet:371071 obsolete congenital disorder of glycosylation with epilepsy as a major feature -MONDO:0009953 leukocyte adhesion deficiency type II MONDO:0035862 Orphanet:99843 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome -MONDO:0009953 leukocyte adhesion deficiency type II MONDO:8000031 Orphanet:99843 Orphanet:557494 obsolete subtype of a disorder -MONDO:0009954 Ramon syndrome MONDO:0015336 Orphanet:3019 Orphanet:139042 obsolete malformation syndrome with odontal and/or periodontal component -MONDO:0009954 Ramon syndrome MONDO:0026190 Orphanet:3019 Orphanet:183580 obsolete genetic malformation syndrome with odontal and/or periodontal component -MONDO:0009954 Ramon syndrome MONDO:0035863 Orphanet:3019 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0009954 Ramon syndrome MONDO:0800089 Orphanet:3019 Orphanet:93450 obsolete primary bone dysplasia with disorganized development of skeletal components -MONDO:0009954 Ramon syndrome MONDO:8000032 Orphanet:3019 Orphanet:377789 obsolete malformation syndrome -MONDO:0009955 rapadilino syndrome MONDO:0015335 Orphanet:3021 Orphanet:139039 obsolete Mendelian syndromes with cleft lip/palate -MONDO:0009955 rapadilino syndrome MONDO:0017432 Orphanet:3021 Orphanet:294955 obsolete syndrome with limb reduction defects -MONDO:0009955 rapadilino syndrome MONDO:0043008 Orphanet:3021 Orphanet:330206 obsolete genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability -MONDO:0009955 rapadilino syndrome MONDO:8000032 Orphanet:3021 Orphanet:377789 obsolete malformation syndrome -MONDO:0009958 adult Refsum disease MONDO:0016133 Orphanet:773 Orphanet:207018 obsolete rare hereditary metabolic disease with peripheral neuropathy -MONDO:0009958 adult Refsum disease MONDO:0017272 Orphanet:773 Orphanet:281238 obsolete autosomal ichthyosis syndrome with prominent neurologics signs -MONDO:0009958 adult Refsum disease MONDO:0017753 Orphanet:773 Orphanet:309810 obsolete disorder of peroxisomal alpha-, beta- and omega-oxidation -MONDO:0009958 adult Refsum disease MONDO:0019058 Orphanet:773 Orphanet:68385 obsolete neurometabolic disease -MONDO:0009958 adult Refsum disease MONDO:0020228 Orphanet:773 Orphanet:98644 obsolete cataract associated with a metabolic disease -MONDO:0009958 adult Refsum disease MONDO:0020240 Orphanet:773 Orphanet:98661 obsolete syndromic retinitis pigmentosa -MONDO:0009958 adult Refsum disease MONDO:0035862 Orphanet:773 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome -MONDO:0009963 Ulbright-Hodes syndrome MONDO:0019721 Orphanet:3404 Orphanet:93547 obsolete syndromic renal or urinary tract malformation -MONDO:0009963 Ulbright-Hodes syndrome MONDO:0035863 Orphanet:3404 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0009963 Ulbright-Hodes syndrome MONDO:8000032 Orphanet:3404 Orphanet:377789 obsolete malformation syndrome -MONDO:0009964 short-rib thoracic dysplasia 9 with or without polydactyly MONDO:0020240 Orphanet:140969 Orphanet:98661 obsolete syndromic retinitis pigmentosa -MONDO:0009964 short-rib thoracic dysplasia 9 with or without polydactyly MONDO:0022409 Orphanet:140969 Orphanet:156162 obsolete nephropathy-associated ciliopathy -MONDO:0009965 Perlman syndrome MONDO:0015945 Orphanet:2849 Orphanet:183422 obsolete polymalformative genetic syndrome with increased risk of developing cancer -MONDO:0009965 Perlman syndrome MONDO:0017891 Orphanet:2849 Orphanet:319328 obsolete inherited renal cancer-predisposing syndrome -MONDO:0009965 Perlman syndrome MONDO:8000032 Orphanet:2849 Orphanet:377789 obsolete malformation syndrome -MONDO:0009966 NPHP3-related Meckel-like syndrome MONDO:0015114 Orphanet:3032 Orphanet:101939 obsolete rare parenchymal liver disease -MONDO:0009966 NPHP3-related Meckel-like syndrome MONDO:0015508 Orphanet:3032 Orphanet:156604 obsolete hereditary parenchymatous liver disease -MONDO:0009966 NPHP3-related Meckel-like syndrome MONDO:0017121 Orphanet:3032 Orphanet:269546 obsolete syndrome with a Dandy-Walker malformation as major feature -MONDO:0009966 NPHP3-related Meckel-like syndrome MONDO:0019721 Orphanet:3032 Orphanet:93547 obsolete syndromic renal or urinary tract malformation -MONDO:0009966 NPHP3-related Meckel-like syndrome MONDO:0022405 Orphanet:3032 Orphanet:156180 obsolete retinal ciliopathy due to mutation in nephronophthisis gene -MONDO:0009966 NPHP3-related Meckel-like syndrome MONDO:8000032 Orphanet:3032 Orphanet:377789 obsolete malformation syndrome -MONDO:0009970 renal tubular dysgenesis of genetic origin MONDO:8000031 Orphanet:97369 Orphanet:557494 obsolete subtype of a disorder -MONDO:0009971 respiratory distress syndrome in premature infants MONDO:0017016 Orphanet:70587 Orphanet:264670 obsolete primary interstitial lung disease specific to childhood due to alveolar structure disorder -MONDO:0009978 retinal degeneration-nanophthalmos-glaucoma syndrome MONDO:0020240 Orphanet:1574 Orphanet:98661 obsolete syndromic retinitis pigmentosa -MONDO:0009978 retinal degeneration-nanophthalmos-glaucoma syndrome MONDO:8000032 Orphanet:1574 Orphanet:377789 obsolete malformation syndrome -MONDO:0009983 retinitis pigmentosa-intellectual disability-deafness-hypogenitalism syndrome MONDO:0019589 Orphanet:3085 Orphanet:90642 obsolete syndromic genetic hearing loss -MONDO:0009983 retinitis pigmentosa-intellectual disability-deafness-hypogenitalism syndrome MONDO:0020225 Orphanet:3085 Orphanet:98641 obsolete syndromic cataract -MONDO:0009983 retinitis pigmentosa-intellectual disability-deafness-hypogenitalism syndrome MONDO:0020240 Orphanet:3085 Orphanet:98661 obsolete syndromic retinitis pigmentosa -MONDO:0009983 retinitis pigmentosa-intellectual disability-deafness-hypogenitalism syndrome MONDO:0035863 Orphanet:3085 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0009983 retinitis pigmentosa-intellectual disability-deafness-hypogenitalism syndrome MONDO:8000032 Orphanet:3085 Orphanet:377789 obsolete malformation syndrome -MONDO:0009990 Revesz syndrome MONDO:0034953 Orphanet:3088 Orphanet:519325 obsolete syndromic inherited retinal disorder -MONDO:0009990 Revesz syndrome MONDO:8000032 Orphanet:3088 Orphanet:377789 obsolete malformation syndrome -MONDO:0009993 embryonal rhabdomyosarcoma MONDO:8000031 Orphanet:99757 Orphanet:557494 obsolete subtype of a disorder -MONDO:0009994 alveolar rhabdomyosarcoma MONDO:8000031 Orphanet:99756 Orphanet:557494 obsolete subtype of a disorder -MONDO:0009996 rhizomelic syndrome, Urbach type MONDO:0019697 Orphanet:3098 Orphanet:93438 obsolete mesomelic and rhizo-mesomelic dysplasia -MONDO:0009996 rhizomelic syndrome, Urbach type MONDO:8000032 Orphanet:3098 Orphanet:377789 obsolete malformation syndrome -MONDO:0009998 Richieri Costa-Pereira syndrome MONDO:0015335 Orphanet:3102 Orphanet:139039 obsolete Mendelian syndromes with cleft lip/palate -MONDO:0009998 Richieri Costa-Pereira syndrome MONDO:0043008 Orphanet:3102 Orphanet:330206 obsolete genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability -MONDO:0009998 Richieri Costa-Pereira syndrome MONDO:8000032 Orphanet:3102 Orphanet:377789 obsolete malformation syndrome -MONDO:0009999 autosomal recessive Robinow syndrome MONDO:8000031 Orphanet:1507 Orphanet:557494 obsolete subtype of a disorder -MONDO:0010001 ectodermal dysplasia-blindness syndrome MONDO:8000032 Orphanet:1806 Orphanet:377789 obsolete malformation syndrome -MONDO:0010002 Rothmund-Thomson syndrome MONDO:0019304 Orphanet:2909 Orphanet:79390 obsolete rare photodermatosis -MONDO:0010002 Rothmund-Thomson syndrome MONDO:0020233 Orphanet:2909 Orphanet:98649 obsolete dentocutaneous disease with cataract -MONDO:0010002 Rothmund-Thomson syndrome MONDO:0031689 Orphanet:2909 Orphanet:363245 obsolete genetic progeroid syndrome -MONDO:0010004 EEC syndrome MONDO:0015501 Orphanet:1896 Orphanet:156237 obsolete syndrome or malformation associated with head and neck malformations -MONDO:0010004 EEC syndrome MONDO:0019721 Orphanet:1896 Orphanet:93547 obsolete syndromic renal or urinary tract malformation -MONDO:0010004 EEC syndrome MONDO:0020197 Orphanet:1896 Orphanet:98609 obsolete EEC syndrome and related syndrome -MONDO:0010004 EEC syndrome MONDO:0800090 Orphanet:1896 Orphanet:498477 obsolete ectrodactyly with and without other manifestations -MONDO:0010004 EEC syndrome MONDO:8000032 Orphanet:1896 Orphanet:377789 obsolete malformation syndrome -MONDO:0010006 Sandhoff disease MONDO:0016133 Orphanet:796 Orphanet:207018 obsolete rare hereditary metabolic disease with peripheral neuropathy -MONDO:0010006 Sandhoff disease MONDO:0034953 Orphanet:796 Orphanet:519325 obsolete syndromic inherited retinal disorder -MONDO:0010007 microbrachycephaly-ptosis-cleft lip syndrome MONDO:0015335 Orphanet:2511 Orphanet:139039 obsolete Mendelian syndromes with cleft lip/palate -MONDO:0010007 microbrachycephaly-ptosis-cleft lip syndrome MONDO:0020253 Orphanet:2511 Orphanet:98683 obsolete syndrome with a symptomatic strabismus -MONDO:0010007 microbrachycephaly-ptosis-cleft lip syndrome MONDO:0035863 Orphanet:2511 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0010007 microbrachycephaly-ptosis-cleft lip syndrome MONDO:8000032 Orphanet:2511 Orphanet:377789 obsolete malformation syndrome -MONDO:0010010 Schinzel-Giedion syndrome MONDO:0015945 Orphanet:798 Orphanet:183422 obsolete polymalformative genetic syndrome with increased risk of developing cancer -MONDO:0010010 Schinzel-Giedion syndrome MONDO:0019721 Orphanet:798 Orphanet:93547 obsolete syndromic renal or urinary tract malformation -MONDO:0010010 Schinzel-Giedion syndrome MONDO:0035863 Orphanet:798 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0010010 Schinzel-Giedion syndrome MONDO:8000032 Orphanet:798 Orphanet:377789 obsolete malformation syndrome -MONDO:0010011 schizencephaly MONDO:0015655 Orphanet:799 Orphanet:166478 obsolete cerebral malformation with epilepsy -MONDO:0010011 schizencephaly MONDO:0020253 Orphanet:799 Orphanet:98683 obsolete syndrome with a symptomatic strabismus -MONDO:0010012 autoimmune polyendocrinopathy type 2 MONDO:0015130 Orphanet:3143 Orphanet:101963 obsolete acquired chronic primary adrenal insufficiency -MONDO:0010012 autoimmune polyendocrinopathy type 2 MONDO:0018401 Orphanet:3143 Orphanet:399853 obsolete female infertility due to an anomaly of ovarian function -MONDO:0010013 schneckenbecken dysplasia MONDO:0017744 Orphanet:3144 Orphanet:309463 obsolete disorder of O-xylosyl/N-acetylgalactosaminylglycan synthesis -MONDO:0010013 schneckenbecken dysplasia MONDO:0018292 Orphanet:3144 Orphanet:371195 obsolete congenital disorder of glycosylation-related bone disorder -MONDO:0010013 schneckenbecken dysplasia MONDO:8000032 Orphanet:3144 Orphanet:377789 obsolete malformation syndrome -MONDO:0010014 craniometadiaphyseal dysplasia, wormian bone type MONDO:0800084 Orphanet:85184 Orphanet:93444 obsolete primary bone dysplasia with increased bone density -MONDO:0010014 craniometadiaphyseal dysplasia, wormian bone type MONDO:8000032 Orphanet:85184 Orphanet:377789 obsolete malformation syndrome -MONDO:0010015 anterior segment dysgenesis 7 MONDO:0020225 Orphanet:289499 Orphanet:98641 obsolete syndromic cataract -MONDO:0010015 anterior segment dysgenesis 7 MONDO:8000032 Orphanet:289499 Orphanet:377789 obsolete malformation syndrome -MONDO:0010017 sea-blue histiocyte syndrome MONDO:0028795 Orphanet:158029 Orphanet:271870 obsolete rare genetic systemic or rheumatologic disease -MONDO:0010024 Beemer-Langer syndrome MONDO:8000032 Orphanet:93268 Orphanet:377789 obsolete malformation syndrome -MONDO:0010026 SHORT syndrome MONDO:0015329 Orphanet:3163 Orphanet:139021 obsolete malformation syndrome with short stature -MONDO:0010026 SHORT syndrome MONDO:0015885 Orphanet:3163 Orphanet:181368 obsolete rare insulin-resistance syndrome -MONDO:0010026 SHORT syndrome MONDO:0020210 Orphanet:3163 Orphanet:98622 obsolete syndromic hyperopia -MONDO:0010026 SHORT syndrome MONDO:0020222 Orphanet:3163 Orphanet:98638 obsolete rare disease with glaucoma as a major feature -MONDO:0010026 SHORT syndrome MONDO:0026187 Orphanet:3163 Orphanet:183570 obsolete genetic malformation syndrome with short stature -MONDO:0010026 SHORT syndrome MONDO:0031689 Orphanet:3163 Orphanet:363245 obsolete genetic progeroid syndrome -MONDO:0010026 SHORT syndrome MONDO:0035863 Orphanet:3163 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0010026 SHORT syndrome MONDO:8000032 Orphanet:3163 Orphanet:377789 obsolete malformation syndrome -MONDO:0010027 free sialic acid storage disease, infantile form MONDO:8000031 Orphanet:309324 Orphanet:557494 obsolete subtype of a disorder -MONDO:0010029 situs inversus MONDO:0015213 Orphanet:101063 Orphanet:108971 obsolete non-syndromic visceral malformation -MONDO:0010029 situs inversus MONDO:0017131 Orphanet:101063 Orphanet:271853 obsolete hereditary cardiac anomaly -MONDO:0010029 situs inversus MONDO:8000030 Orphanet:101063 Orphanet:377791 obsolete morphological anomaly -MONDO:0010030 Sjogren syndrome MONDO:0015118 Orphanet:289390 Orphanet:101944 obsolete rare pulmonary disease -MONDO:0010030 Sjogren syndrome MONDO:0015939 Orphanet:289390 Orphanet:182228 obsolete systemic autoimmune disease -MONDO:0010031 Sjogren-Larsson syndrome MONDO:0017272 Orphanet:816 Orphanet:281238 obsolete autosomal ichthyosis syndrome with prominent neurologics signs -MONDO:0010031 Sjogren-Larsson syndrome MONDO:0018118 Orphanet:816 Orphanet:352306 obsolete disorder of phospholipids, sphingolipids and fatty acids biosynthesis with central nervous system predominant involvement -MONDO:0010031 Sjogren-Larsson syndrome MONDO:0019058 Orphanet:816 Orphanet:68385 obsolete neurometabolic disease -MONDO:0010031 Sjogren-Larsson syndrome MONDO:0034953 Orphanet:816 Orphanet:519325 obsolete syndromic inherited retinal disorder -MONDO:0010031 Sjogren-Larsson syndrome MONDO:0035862 Orphanet:816 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome -MONDO:0010035 Smith-Lemli-Opitz syndrome MONDO:0015329 Orphanet:818 Orphanet:139021 obsolete malformation syndrome with short stature -MONDO:0010035 Smith-Lemli-Opitz syndrome MONDO:0017434 Orphanet:818 Orphanet:294959 obsolete syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy -MONDO:0010035 Smith-Lemli-Opitz syndrome MONDO:0017971 Orphanet:818 Orphanet:325511 obsolete 46,XY disorder of sex development due to a cholesterol synthesis defect -MONDO:0010035 Smith-Lemli-Opitz syndrome MONDO:0019721 Orphanet:818 Orphanet:93547 obsolete syndromic renal or urinary tract malformation -MONDO:0010035 Smith-Lemli-Opitz syndrome MONDO:0020165 Orphanet:818 Orphanet:98574 obsolete syndromic epicanthus -MONDO:0010035 Smith-Lemli-Opitz syndrome MONDO:0020169 Orphanet:818 Orphanet:98578 obsolete rare disorder with ptosis -MONDO:0010035 Smith-Lemli-Opitz syndrome MONDO:0020234 Orphanet:818 Orphanet:98650 obsolete craniofacial anomaly with cataract -MONDO:0010035 Smith-Lemli-Opitz syndrome MONDO:0026187 Orphanet:818 Orphanet:183570 obsolete genetic malformation syndrome with short stature -MONDO:0010035 Smith-Lemli-Opitz syndrome MONDO:0035863 Orphanet:818 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0010035 Smith-Lemli-Opitz syndrome MONDO:8000032 Orphanet:818 Orphanet:377789 obsolete malformation syndrome -MONDO:0010038 growth delay due to insulin-like growth factor I resistance MONDO:0035862 Orphanet:73273 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome -MONDO:0010039 congenital heart defect-round face-developmental delay syndrome MONDO:0035863 Orphanet:1355 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0010039 congenital heart defect-round face-developmental delay syndrome MONDO:8000032 Orphanet:1355 Orphanet:377789 obsolete malformation syndrome -MONDO:0010044 hereditary spastic paraplegia 15 MONDO:0015089 Orphanet:100996 Orphanet:100981 obsolete autosomal recessive complex spastic paraplegia -MONDO:0010044 hereditary spastic paraplegia 15 MONDO:0035862 Orphanet:100996 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome -MONDO:0010046 hereditary spastic paraplegia 23 MONDO:0015089 Orphanet:101003 Orphanet:100981 obsolete autosomal recessive complex spastic paraplegia -MONDO:0010047 hereditary spastic paraplegia 5A MONDO:0017915 Orphanet:100986 Orphanet:320346 obsolete pure or complex autosomal recessive spastic paraplegia -MONDO:0010049 spastic paraplegia-glaucoma-intellectual disability syndrome MONDO:0015089 Orphanet:2818 Orphanet:100981 obsolete autosomal recessive complex spastic paraplegia -MONDO:0010049 spastic paraplegia-glaucoma-intellectual disability syndrome MONDO:0020222 Orphanet:2818 Orphanet:98638 obsolete rare disease with glaucoma as a major feature -MONDO:0010049 spastic paraplegia-glaucoma-intellectual disability syndrome MONDO:0035862 Orphanet:2818 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome -MONDO:0010051 spastic tetraplegia-retinitis pigmentosa-intellectual disability syndrome MONDO:0020240 Orphanet:3011 Orphanet:98661 obsolete syndromic retinitis pigmentosa -MONDO:0010051 spastic tetraplegia-retinitis pigmentosa-intellectual disability syndrome MONDO:0035862 Orphanet:3011 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome -MONDO:0010056 spinal muscular atrophy, type IV MONDO:8000031 Orphanet:83420 Orphanet:557494 obsolete subtype of a disorder -MONDO:0010061 autosomal recessive cerebellar ataxia-blindness-deafness syndrome MONDO:0019058 Orphanet:95433 Orphanet:68385 obsolete neurometabolic disease -MONDO:0010063 corneal-cerebellar syndrome MONDO:0020215 Orphanet:3177 Orphanet:98628 obsolete syndromic corneal dystrophy -MONDO:0010063 corneal-cerebellar syndrome MONDO:0035863 Orphanet:3177 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0010063 corneal-cerebellar syndrome MONDO:8000032 Orphanet:3177 Orphanet:377789 obsolete malformation syndrome -MONDO:0010064 spastic ataxia-corneal dystrophy syndrome MONDO:0020215 Orphanet:2572 Orphanet:98628 obsolete syndromic corneal dystrophy -MONDO:0010064 spastic ataxia-corneal dystrophy syndrome MONDO:0020225 Orphanet:2572 Orphanet:98641 obsolete syndromic cataract -MONDO:0010066 familial isolated congenital asplenia MONDO:0015213 Orphanet:101351 Orphanet:108971 obsolete non-syndromic visceral malformation -MONDO:0010066 familial isolated congenital asplenia MONDO:0018033 Orphanet:101351 Orphanet:331193 obsolete other immunodeficiency syndromes due to defects in innate immunity -MONDO:0010066 familial isolated congenital asplenia MONDO:8000030 Orphanet:101351 Orphanet:377791 obsolete morphological anomaly -MONDO:0010073 spondyloepiphyseal dysplasia tarda, Kohn type MONDO:0035863 Orphanet:163665 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0010075 spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures MONDO:0800086 Orphanet:642099 Orphanet:93441 obsolete primary bone dysplasia with multiple joint dislocations -MONDO:0010079 Canavan disease MONDO:0015918 Orphanet:141 Orphanet:182070 obsolete rare neurodegenerative disease -MONDO:0010079 Canavan disease MONDO:0016399 Orphanet:141 Orphanet:225689 obsolete amino acid or protein metabolism disease with epilepsy -MONDO:0010079 Canavan disease MONDO:0019058 Orphanet:141 Orphanet:68385 obsolete neurometabolic disease -MONDO:0010082 subaortic stenosis-short stature syndrome MONDO:0015329 Orphanet:3191 Orphanet:139021 obsolete malformation syndrome with short stature -MONDO:0010082 subaortic stenosis-short stature syndrome MONDO:0015506 Orphanet:3191 Orphanet:156532 obsolete rare syndrome with cardiac malformations -MONDO:0010082 subaortic stenosis-short stature syndrome MONDO:0026187 Orphanet:3191 Orphanet:183570 obsolete genetic malformation syndrome with short stature -MONDO:0010082 subaortic stenosis-short stature syndrome MONDO:0043008 Orphanet:3191 Orphanet:330206 obsolete genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability -MONDO:0010082 subaortic stenosis-short stature syndrome MONDO:8000032 Orphanet:3191 Orphanet:377789 obsolete malformation syndrome -MONDO:0010083 succinic semialdehyde dehydrogenase deficiency MONDO:0016404 Orphanet:22 Orphanet:225707 obsolete metabolic neurotransmission anomaly with epilepsy -MONDO:0010083 succinic semialdehyde dehydrogenase deficiency MONDO:0019058 Orphanet:22 Orphanet:68385 obsolete neurometabolic disease -MONDO:0010083 succinic semialdehyde dehydrogenase deficiency MONDO:0019224 Orphanet:22 Orphanet:79175 obsolete inborn disorder of gamma-aminobutyric acid metabolism -MONDO:0010083 succinic semialdehyde dehydrogenase deficiency MONDO:0035862 Orphanet:22 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome -MONDO:0010085 Schilder disease MONDO:0016428 Orphanet:59298 Orphanet:228145 obsolete multiple sclerosis variant -MONDO:0010087 Sugarman brachydactyly MONDO:0800093 Orphanet:498602 Orphanet:498451 obsolete dysostosis with brachydactyly without extraskeletal manifestations -MONDO:0010087 Sugarman brachydactyly MONDO:8000030 Orphanet:498602 Orphanet:377791 obsolete morphological anomaly -MONDO:0010088 mucosulfatidosis MONDO:0017273 Orphanet:585 Orphanet:281241 obsolete autosomal ichthyosis syndrome with fatal disease course -MONDO:0010088 mucosulfatidosis MONDO:0018299 Orphanet:585 Orphanet:371442 obsolete sphingolipidosis with epilepsy -MONDO:0010088 mucosulfatidosis MONDO:0019058 Orphanet:585 Orphanet:68385 obsolete neurometabolic disease -MONDO:0010088 mucosulfatidosis MONDO:0020228 Orphanet:585 Orphanet:98644 obsolete cataract associated with a metabolic disease -MONDO:0010089 isolated sulfite oxidase deficiency MONDO:8000031 Orphanet:99731 Orphanet:557494 obsolete subtype of a disorder -MONDO:0010090 Summitt syndrome MONDO:8000032 Orphanet:3210 Orphanet:377789 obsolete malformation syndrome -MONDO:0010091 Cold-induced sweating syndrome 1 MONDO:8000032 Orphanet:1545 Orphanet:377789 obsolete malformation syndrome -MONDO:0010092 Filippi syndrome MONDO:0017434 Orphanet:3255 Orphanet:294959 obsolete syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy -MONDO:0010092 Filippi syndrome MONDO:0035863 Orphanet:3255 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0010092 Filippi syndrome MONDO:8000032 Orphanet:3255 Orphanet:377789 obsolete malformation syndrome -MONDO:0010094 spondylocarpotarsal synostosis syndrome MONDO:8000032 Orphanet:3275 Orphanet:377789 obsolete malformation syndrome -MONDO:0010100 Tay-Sachs disease MONDO:0016133 Orphanet:845 Orphanet:207018 obsolete rare hereditary metabolic disease with peripheral neuropathy -MONDO:0010100 Tay-Sachs disease MONDO:0034953 Orphanet:845 Orphanet:519325 obsolete syndromic inherited retinal disorder -MONDO:0010101 Teebi-Shaltout syndrome MONDO:0800085 Orphanet:3291 Orphanet:93453 obsolete dysostosis with predominant craniofacial involvement -MONDO:0010101 Teebi-Shaltout syndrome MONDO:8000032 Orphanet:3291 Orphanet:377789 obsolete malformation syndrome -MONDO:0010104 non-eruption of teeth-maxillary hypoplasia-genu valgum syndrome MONDO:0015336 Orphanet:2972 Orphanet:139042 obsolete malformation syndrome with odontal and/or periodontal component -MONDO:0010104 non-eruption of teeth-maxillary hypoplasia-genu valgum syndrome MONDO:0026190 Orphanet:2972 Orphanet:183580 obsolete genetic malformation syndrome with odontal and/or periodontal component -MONDO:0010104 non-eruption of teeth-maxillary hypoplasia-genu valgum syndrome MONDO:8000032 Orphanet:2972 Orphanet:377789 obsolete malformation syndrome -MONDO:0010108 testicular germ cell tumor MONDO:0018191 Orphanet:363504 Orphanet:363472 obsolete tumor of testis and paratestis -MONDO:0010110 tetraamelia-multiple malformations syndrome MONDO:0017432 Orphanet:3301 Orphanet:294955 obsolete syndrome with limb reduction defects -MONDO:0010110 tetraamelia-multiple malformations syndrome MONDO:0020225 Orphanet:3301 Orphanet:98641 obsolete syndromic cataract -MONDO:0010110 tetraamelia-multiple malformations syndrome MONDO:0043008 Orphanet:3301 Orphanet:330206 obsolete genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability -MONDO:0010110 tetraamelia-multiple malformations syndrome MONDO:8000032 Orphanet:3301 Orphanet:377789 obsolete malformation syndrome -MONDO:0010111 odontotrichomelic syndrome MONDO:0015335 Orphanet:2723 Orphanet:139039 obsolete Mendelian syndromes with cleft lip/palate -MONDO:0010111 odontotrichomelic syndrome MONDO:0015336 Orphanet:2723 Orphanet:139042 obsolete malformation syndrome with odontal and/or periodontal component -MONDO:0010111 odontotrichomelic syndrome MONDO:0026190 Orphanet:2723 Orphanet:183580 obsolete genetic malformation syndrome with odontal and/or periodontal component -MONDO:0010111 odontotrichomelic syndrome MONDO:8000032 Orphanet:2723 Orphanet:377789 obsolete malformation syndrome -MONDO:0010115 thoracic dysplasia-hydrocephalus syndrome MONDO:0017120 Orphanet:1861 Orphanet:269531 obsolete other syndrome with a central nervous system malformation as major feature -MONDO:0010115 thoracic dysplasia-hydrocephalus syndrome MONDO:8000032 Orphanet:1861 Orphanet:377789 obsolete malformation syndrome -MONDO:0010121 thrombocytopenia-absent radius syndrome MONDO:0017432 Orphanet:3320 Orphanet:294955 obsolete syndrome with limb reduction defects -MONDO:0010121 thrombocytopenia-absent radius syndrome MONDO:8000032 Orphanet:3320 Orphanet:377789 obsolete malformation syndrome -MONDO:0010122 congenital thrombotic thrombocytopenic purpura MONDO:0026193 Orphanet:93583 Orphanet:183589 obsolete genetic thrombotic microangiopathy -MONDO:0010122 congenital thrombotic thrombocytopenic purpura MONDO:8000031 Orphanet:93583 Orphanet:557494 obsolete subtype of a disorder -MONDO:0010123 absent thumb-short stature-immunodeficiency syndrome MONDO:0018035 Orphanet:2951 Orphanet:331217 obsolete syndrome with combined immunodeficiency -MONDO:0010123 absent thumb-short stature-immunodeficiency syndrome MONDO:8000032 Orphanet:2951 Orphanet:377789 obsolete malformation syndrome -MONDO:0010125 upper limb defect-eye and ear abnormalities syndrome MONDO:0020225 Orphanet:2489 Orphanet:98641 obsolete syndromic cataract -MONDO:0010125 upper limb defect-eye and ear abnormalities syndrome MONDO:0035863 Orphanet:2489 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0010125 upper limb defect-eye and ear abnormalities syndrome MONDO:8000032 Orphanet:2489 Orphanet:377789 obsolete malformation syndrome -MONDO:0010128 thyrocerebrorenal syndrome MONDO:0019721 Orphanet:3327 Orphanet:93547 obsolete syndromic renal or urinary tract malformation -MONDO:0010128 thyrocerebrorenal syndrome MONDO:8000032 Orphanet:3327 Orphanet:377789 obsolete malformation syndrome -MONDO:0010129 thymic-renal-anal-lung dysplasia MONDO:0019721 Orphanet:3326 Orphanet:93547 obsolete syndromic renal or urinary tract malformation -MONDO:0010129 thymic-renal-anal-lung dysplasia MONDO:0043008 Orphanet:3326 Orphanet:330206 obsolete genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability -MONDO:0010129 thymic-renal-anal-lung dysplasia MONDO:8000032 Orphanet:3326 Orphanet:377789 obsolete malformation syndrome -MONDO:0010132 familial thyroid dyshormonogenesis MONDO:0019856 Orphanet:95716 Orphanet:95714 obsolete primary congenital hypothyroidism without thyroid developmental anomaly -MONDO:0010132 familial thyroid dyshormonogenesis MONDO:0035862 Orphanet:95716 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome -MONDO:0010134 Pendred syndrome MONDO:0015778 Orphanet:705 Orphanet:177107 obsolete syndromic hypothyroidism -MONDO:0010134 Pendred syndrome MONDO:0019589 Orphanet:705 Orphanet:90642 obsolete syndromic genetic hearing loss -MONDO:0010134 Pendred syndrome MONDO:8000032 Orphanet:705 Orphanet:377789 obsolete malformation syndrome -MONDO:0010142 hypothyroidism due to TSH receptor mutations MONDO:0019856 Orphanet:90673 Orphanet:95714 obsolete primary congenital hypothyroidism without thyroid developmental anomaly -MONDO:0010144 tibial hemimelia MONDO:8000030 Orphanet:93322 Orphanet:377791 obsolete morphological anomaly -MONDO:0010146 Kerion celsi MONDO:0019546 Orphanet:499 Orphanet:90077 obsolete other acquired skin disease -MONDO:0010148 Mounier-Kuhn syndrome MONDO:0020000 Orphanet:3347 Orphanet:97955 obsolete rare respiratory disease -MONDO:0010148 Mounier-Kuhn syndrome MONDO:0032013 Orphanet:3347 Orphanet:377792 obsolete clinical syndrome -MONDO:0010149 transcobalamin II deficiency MONDO:0018035 Orphanet:859 Orphanet:331217 obsolete syndrome with combined immunodeficiency -MONDO:0010149 transcobalamin II deficiency MONDO:0020109 Orphanet:859 Orphanet:98396 obsolete constitutional megaloblastic anemia due to vitamin B12 metabolism disorder -MONDO:0010152 trichomegaly-retina pigmentary degeneration-dwarfism syndrome MONDO:0020240 Orphanet:3363 Orphanet:98661 obsolete syndromic retinitis pigmentosa -MONDO:0010152 trichomegaly-retina pigmentary degeneration-dwarfism syndrome MONDO:0035863 Orphanet:3363 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0010152 trichomegaly-retina pigmentary degeneration-dwarfism syndrome MONDO:8000032 Orphanet:3363 Orphanet:377789 obsolete malformation syndrome -MONDO:0010153 trichoodontoonychial dysplasia MONDO:0015336 Orphanet:3355 Orphanet:139042 obsolete malformation syndrome with odontal and/or periodontal component -MONDO:0010153 trichoodontoonychial dysplasia MONDO:0026190 Orphanet:3355 Orphanet:183580 obsolete genetic malformation syndrome with odontal and/or periodontal component -MONDO:0010153 trichoodontoonychial dysplasia MONDO:8000032 Orphanet:3355 Orphanet:377789 obsolete malformation syndrome -MONDO:0010154 trigonocephaly-bifid nose-acral anomalies syndrome MONDO:0043008 Orphanet:3368 Orphanet:330206 obsolete genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability -MONDO:0010154 trigonocephaly-bifid nose-acral anomalies syndrome MONDO:8000032 Orphanet:3368 Orphanet:377789 obsolete malformation syndrome -MONDO:0010155 Dorfman-Chanarin disease MONDO:0020228 Orphanet:98907 Orphanet:98644 obsolete cataract associated with a metabolic disease -MONDO:0010155 Dorfman-Chanarin disease MONDO:0029102 Orphanet:98907 Orphanet:281244 obsolete autosomal ichthyosis syndrome with other associated signs -MONDO:0010155 Dorfman-Chanarin disease MONDO:0035862 Orphanet:98907 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome -MONDO:0010156 Troyer syndrome MONDO:0015089 Orphanet:101000 Orphanet:100981 obsolete autosomal recessive complex spastic paraplegia -MONDO:0010156 Troyer syndrome MONDO:0035862 Orphanet:101000 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome -MONDO:0010159 mismatch repair cancer syndrome 1 MONDO:0016756 Orphanet:252202 Orphanet:252190 obsolete inherited nervous system cancer-predisposing syndrome -MONDO:0010159 mismatch repair cancer syndrome 1 MONDO:0018040 Orphanet:252202 Orphanet:331240 obsolete immunodeficiency with severe reduction in serum IgG and IgA with normal/elevated IgM and normal number of B-cells -MONDO:0010160 tyrosinemia type II MONDO:0020097 Orphanet:28378 Orphanet:98357 obsolete autosomal recessive disease with focal palmoplantar keratoderma as a major feature -MONDO:0010160 tyrosinemia type II MONDO:0035862 Orphanet:28378 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome -MONDO:0010161 tyrosinemia type I MONDO:0015115 Orphanet:882 Orphanet:101940 obsolete rare genetic metabolic liver disease -MONDO:0010161 tyrosinemia type I MONDO:0015945 Orphanet:882 Orphanet:183422 obsolete polymalformative genetic syndrome with increased risk of developing cancer -MONDO:0010161 tyrosinemia type I MONDO:0016133 Orphanet:882 Orphanet:207018 obsolete rare hereditary metabolic disease with peripheral neuropathy -MONDO:0010161 tyrosinemia type I MONDO:0019743 Orphanet:882 Orphanet:93593 obsolete nephropathy secondary to a storage or other metabolic disease -MONDO:0010164 phocomelia, Schinzel type MONDO:0017432 Orphanet:2879 Orphanet:294955 obsolete syndrome with limb reduction defects -MONDO:0010164 phocomelia, Schinzel type MONDO:8000032 Orphanet:2879 Orphanet:377789 obsolete malformation syndrome -MONDO:0010165 ulna hypoplasia-intellectual disability syndrome MONDO:0017432 Orphanet:2249 Orphanet:294955 obsolete syndrome with limb reduction defects -MONDO:0010165 ulna hypoplasia-intellectual disability syndrome MONDO:0035863 Orphanet:2249 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0010165 ulna hypoplasia-intellectual disability syndrome MONDO:8000032 Orphanet:2249 Orphanet:377789 obsolete malformation syndrome -MONDO:0010167 urocanic aciduria MONDO:0019058 Orphanet:210128 Orphanet:68385 obsolete neurometabolic disease -MONDO:0010168 Usher syndrome type 1 MONDO:8000031 Orphanet:231169 Orphanet:557494 obsolete subtype of a disorder -MONDO:0010172 VACTERL with hydrocephalus MONDO:0015246 Orphanet:3412 Orphanet:117573 obsolete syndromic anorectal malformation -MONDO:0010172 VACTERL with hydrocephalus MONDO:0035863 Orphanet:3412 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0010172 VACTERL with hydrocephalus MONDO:8000032 Orphanet:3412 Orphanet:377789 obsolete malformation syndrome -MONDO:0010173 Mayer-Rokitansky-Kuster-Hauser syndrome type 1 MONDO:8000031 Orphanet:247775 Orphanet:557494 obsolete subtype of a disorder -MONDO:0010176 orofaciodigital syndrome type 6 MONDO:0017118 Orphanet:2754 Orphanet:269523 obsolete syndrome with a cerebellar malformation as major feature -MONDO:0010176 orofaciodigital syndrome type 6 MONDO:0019589 Orphanet:2754 Orphanet:90642 obsolete syndromic genetic hearing loss -MONDO:0010176 orofaciodigital syndrome type 6 MONDO:0035863 Orphanet:2754 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0010176 orofaciodigital syndrome type 6 MONDO:8000032 Orphanet:2754 Orphanet:377789 obsolete malformation syndrome -MONDO:0010177 vascular hyalinosis MONDO:8000032 Orphanet:3018 Orphanet:377789 obsolete malformation syndrome -MONDO:0010179 isolated right ventricular hypoplasia MONDO:8000030 Orphanet:439 Orphanet:377791 obsolete morphological anomaly -MONDO:0010180 autosomal recessive spondylocostal dysostosis MONDO:0018292 Orphanet:2311 Orphanet:371195 obsolete congenital disorder of glycosylation-related bone disorder -MONDO:0010180 autosomal recessive spondylocostal dysostosis MONDO:0019711 Orphanet:2311 Orphanet:93454 obsolete dysostosis with predominant vertebral and costal involvement -MONDO:0010180 autosomal recessive spondylocostal dysostosis MONDO:8000032 Orphanet:2311 Orphanet:377789 obsolete malformation syndrome -MONDO:0010181 oculogastrointestinal muscular dystrophy MONDO:0015184 Orphanet:1876 Orphanet:104009 obsolete rare disease involving intestinal motility -MONDO:0010181 oculogastrointestinal muscular dystrophy MONDO:0020169 Orphanet:1876 Orphanet:98578 obsolete rare disorder with ptosis -MONDO:0010183 methylmalonic aciduria and homocystinuria type cblF MONDO:8000031 Orphanet:79284 Orphanet:557494 obsolete subtype of a disorder -MONDO:0010184 methylmalonic aciduria and homocystinuria type cblC MONDO:0016133 Orphanet:79282 Orphanet:207018 obsolete rare hereditary metabolic disease with peripheral neuropathy -MONDO:0010184 methylmalonic aciduria and homocystinuria type cblC MONDO:0020240 Orphanet:79282 Orphanet:98661 obsolete syndromic retinitis pigmentosa -MONDO:0010184 methylmalonic aciduria and homocystinuria type cblC MONDO:8000031 Orphanet:79282 Orphanet:557494 obsolete subtype of a disorder -MONDO:0010185 methylmalonic aciduria and homocystinuria type cblD MONDO:8000031 Orphanet:79283 Orphanet:557494 obsolete subtype of a disorder -MONDO:0010188 familial isolated deficiency of vitamin E MONDO:0016133 Orphanet:96 Orphanet:207018 obsolete rare hereditary metabolic disease with peripheral neuropathy -MONDO:0010188 familial isolated deficiency of vitamin E MONDO:0017760 Orphanet:96 Orphanet:309833 obsolete disorder of other vitamins and cofactors metabolism and transport -MONDO:0010188 familial isolated deficiency of vitamin E MONDO:0019058 Orphanet:96 Orphanet:68385 obsolete neurometabolic disease -MONDO:0010188 familial isolated deficiency of vitamin E MONDO:0020240 Orphanet:96 Orphanet:98661 obsolete syndromic retinitis pigmentosa -MONDO:0010191 von Willebrand disease 3 MONDO:8000031 Orphanet:166096 Orphanet:557494 obsolete subtype of a disorder -MONDO:0010193 Weaver syndrome MONDO:0035863 Orphanet:3447 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0010193 Weaver syndrome MONDO:0800091 Orphanet:3447 Orphanet:498448 obsolete overgrowth or tall stature syndrome with skeletal involvement -MONDO:0010193 Weaver syndrome MONDO:8000032 Orphanet:3447 Orphanet:377789 obsolete malformation syndrome -MONDO:0010196 Werner syndrome MONDO:0015331 Orphanet:902 Orphanet:139027 obsolete malformation syndrome with skin/mucosae involvement -MONDO:0010196 Werner syndrome MONDO:0015945 Orphanet:902 Orphanet:183422 obsolete polymalformative genetic syndrome with increased risk of developing cancer -MONDO:0010196 Werner syndrome MONDO:0020225 Orphanet:902 Orphanet:98641 obsolete syndromic cataract -MONDO:0010196 Werner syndrome MONDO:0031689 Orphanet:902 Orphanet:363245 obsolete genetic progeroid syndrome -MONDO:0010199 white forelock with malformations MONDO:0015506 Orphanet:2475 Orphanet:156532 obsolete rare syndrome with cardiac malformations -MONDO:0010199 white forelock with malformations MONDO:0043008 Orphanet:2475 Orphanet:330206 obsolete genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability -MONDO:0010199 white forelock with malformations MONDO:8000032 Orphanet:2475 Orphanet:377789 obsolete malformation syndrome -MONDO:0010200 Wilson disease MONDO:0015115 Orphanet:905 Orphanet:101940 obsolete rare genetic metabolic liver disease -MONDO:0010200 Wilson disease MONDO:0016133 Orphanet:905 Orphanet:207018 obsolete rare hereditary metabolic disease with peripheral neuropathy -MONDO:0010200 Wilson disease MONDO:0016400 Orphanet:905 Orphanet:225692 obsolete metal transport or utilization disorder with epilepsy -MONDO:0010200 Wilson disease MONDO:0017644 Orphanet:905 Orphanet:306712 obsolete rare tremor disorder -MONDO:0010200 Wilson disease MONDO:0017663 Orphanet:905 Orphanet:307061 obsolete inherited tremor disorder -MONDO:0010200 Wilson disease MONDO:0018265 Orphanet:905 Orphanet:370106 obsolete rare disorder with dystonia and other neurologic or systemic manifestation -MONDO:0010200 Wilson disease MONDO:0019058 Orphanet:905 Orphanet:68385 obsolete neurometabolic disease -MONDO:0010200 Wilson disease MONDO:0019743 Orphanet:905 Orphanet:93593 obsolete nephropathy secondary to a storage or other metabolic disease -MONDO:0010200 Wilson disease MONDO:0020016 Orphanet:905 Orphanet:98033 obsolete rare neurologic disease with psychiatric involvement -MONDO:0010203 intellectual disability, Wolff type MONDO:0035863 Orphanet:3080 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0010203 intellectual disability, Wolff type MONDO:8000032 Orphanet:3080 Orphanet:377789 obsolete malformation syndrome -MONDO:0010208 wrinkly skin syndrome MONDO:8000031 Orphanet:2834 Orphanet:557494 obsolete subtype of a disorder -MONDO:0010209 xanthinuria type I MONDO:8000031 Orphanet:93601 Orphanet:557494 obsolete subtype of a disorder -MONDO:0010214 xeroderma pigmentosum variant type MONDO:0015331 Orphanet:90342 Orphanet:139027 obsolete malformation syndrome with skin/mucosae involvement -MONDO:0010214 xeroderma pigmentosum variant type MONDO:0015945 Orphanet:90342 Orphanet:183422 obsolete polymalformative genetic syndrome with increased risk of developing cancer -MONDO:0010214 xeroderma pigmentosum variant type MONDO:0019304 Orphanet:90342 Orphanet:79390 obsolete rare photodermatosis -MONDO:0010214 xeroderma pigmentosum variant type MONDO:0020162 Orphanet:90342 Orphanet:98571 obsolete secondary ectropion -MONDO:0010214 xeroderma pigmentosum variant type MONDO:0031689 Orphanet:90342 Orphanet:363245 obsolete genetic progeroid syndrome -MONDO:0010214 xeroderma pigmentosum variant type MONDO:0034926 Orphanet:90342 Orphanet:519270 obsolete rare disorder with entropion -MONDO:0010220 Young syndrome MONDO:0015118 Orphanet:3471 Orphanet:101944 obsolete rare pulmonary disease -MONDO:0010220 Young syndrome MONDO:0015510 Orphanet:3471 Orphanet:156610 obsolete rare genetic respiratory disease -MONDO:0010220 Young syndrome MONDO:0018396 Orphanet:3471 Orphanet:399824 obsolete rare male fertility disorder with obstructive azoospermia -MONDO:0010220 Young syndrome MONDO:0018409 Orphanet:3471 Orphanet:400003 obsolete rare genetic disorder with obstructive azoospermia -MONDO:0010221 CHIME syndrome MONDO:0018287 Orphanet:3474 Orphanet:371071 obsolete congenital disorder of glycosylation with epilepsy as a major feature -MONDO:0010221 CHIME syndrome MONDO:0018290 Orphanet:3474 Orphanet:371183 obsolete congenital disorder of glycosylation with cardiac malformation as a major feature -MONDO:0010221 CHIME syndrome MONDO:0018293 Orphanet:3474 Orphanet:371200 obsolete congenital disorder of glycosylation with skin involvement -MONDO:0010221 CHIME syndrome MONDO:0018295 Orphanet:3474 Orphanet:371212 obsolete congenital disorder of glycosylation with deafness as a major feature -MONDO:0010221 CHIME syndrome MONDO:0020253 Orphanet:3474 Orphanet:98683 obsolete syndrome with a symptomatic strabismus -MONDO:0010221 CHIME syndrome MONDO:0035863 Orphanet:3474 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0010221 CHIME syndrome MONDO:8000032 Orphanet:3474 Orphanet:377789 obsolete malformation syndrome -MONDO:0010224 corpus callosum agenesis-abnormal genitalia syndrome MONDO:0018496 Orphanet:2508 Orphanet:423655 obsolete ARX-related encephalopathy-brain malformation spectrum -MONDO:0010224 corpus callosum agenesis-abnormal genitalia syndrome MONDO:8000032 Orphanet:2508 Orphanet:377789 obsolete malformation syndrome -MONDO:0010225 Dent disease type 1 MONDO:8000031 Orphanet:93622 Orphanet:557494 obsolete subtype of a disorder -MONDO:0010235 X-linked intellectual disability-psychosis-macroorchidism syndrome MONDO:0035862 Orphanet:3077 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome -MONDO:0010235 X-linked intellectual disability-psychosis-macroorchidism syndrome MONDO:8000032 Orphanet:3077 Orphanet:377789 obsolete malformation syndrome -MONDO:0010237 X-linked intellectual disability-plagiocephaly syndrome MONDO:0035863 Orphanet:2898 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0010237 X-linked intellectual disability-plagiocephaly syndrome MONDO:8000032 Orphanet:2898 Orphanet:377789 obsolete malformation syndrome -MONDO:0010243 X-linked immunoneurologic disorder MONDO:0018038 Orphanet:2571 Orphanet:331232 obsolete immunodeficiency with isotype or light chain deficiencies with normal number of B-cells -MONDO:0010247 X-linked cerebral adrenoleukodystrophy MONDO:0035862 Orphanet:139396 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome -MONDO:0010247 X-linked cerebral adrenoleukodystrophy MONDO:8000031 Orphanet:139396 Orphanet:557494 obsolete subtype of a disorder -MONDO:0010250 intellectual disability, X-linked 49 MONDO:0035862 Orphanet:485350 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome -MONDO:0010258 MEHMO syndrome MONDO:0016402 Orphanet:85282 Orphanet:225700 obsolete mitochondrial disease with epilepsy -MONDO:0010258 MEHMO syndrome MONDO:0016403 Orphanet:85282 Orphanet:225703 obsolete mitochondrial disease with peripheral neuropathy -MONDO:0010258 MEHMO syndrome MONDO:0016565 Orphanet:85282 Orphanet:240371 obsolete syndromic genetic obesity -MONDO:0010258 MEHMO syndrome MONDO:0035863 Orphanet:85282 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0010258 MEHMO syndrome MONDO:8000032 Orphanet:85282 Orphanet:377789 obsolete malformation syndrome -MONDO:0010261 microphthalmia, syndromic 2 MONDO:0015336 Orphanet:2712 Orphanet:139042 obsolete malformation syndrome with odontal and/or periodontal component -MONDO:0010261 microphthalmia, syndromic 2 MONDO:0020222 Orphanet:2712 Orphanet:98638 obsolete rare disease with glaucoma as a major feature -MONDO:0010261 microphthalmia, syndromic 2 MONDO:0020225 Orphanet:2712 Orphanet:98641 obsolete syndromic cataract -MONDO:0010261 microphthalmia, syndromic 2 MONDO:0026190 Orphanet:2712 Orphanet:183580 obsolete genetic malformation syndrome with odontal and/or periodontal component -MONDO:0010261 microphthalmia, syndromic 2 MONDO:0035863 Orphanet:2712 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0010261 microphthalmia, syndromic 2 MONDO:8000032 Orphanet:2712 Orphanet:377789 obsolete malformation syndrome -MONDO:0010263 Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome MONDO:0015910 Orphanet:86818 Orphanet:182043 obsolete rare constitutional hemolytic anemia -MONDO:0010263 Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome MONDO:0035863 Orphanet:86818 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0010264 X-linked adrenal hypoplasia congenita MONDO:0015891 Orphanet:95702 Orphanet:181390 obsolete hypogonadotropic hypogonadism associated with other endocrinopathies -MONDO:0010264 X-linked adrenal hypoplasia congenita MONDO:0035683 Orphanet:95702 Orphanet:595337 obsolete adrenal hypoplasia congenita -MONDO:0010268 X-linked lissencephaly with abnormal genitalia MONDO:0015147 Orphanet:452 Orphanet:102010 obsolete other syndrome with lissencephaly as a major feature -MONDO:0010268 X-linked lissencephaly with abnormal genitalia MONDO:0018496 Orphanet:452 Orphanet:423655 obsolete ARX-related encephalopathy-brain malformation spectrum -MONDO:0010268 X-linked lissencephaly with abnormal genitalia MONDO:0020042 Orphanet:452 Orphanet:98087 obsolete syndrome with 46,XY disorder of sex development -MONDO:0010268 X-linked lissencephaly with abnormal genitalia MONDO:8000032 Orphanet:452 Orphanet:377789 obsolete malformation syndrome -MONDO:0010269 Coats disease MONDO:0015953 Orphanet:190 Orphanet:183503 obsolete genetic central nervous system and retinal vascular disease -MONDO:0010269 Coats disease MONDO:0019110 Orphanet:190 Orphanet:71281 obsolete rare central nervous system or retinal vascular disease -MONDO:0010269 Coats disease MONDO:0020216 Orphanet:190 Orphanet:98631 obsolete secondary dysgenetic glaucoma -MONDO:0010269 Coats disease MONDO:0020253 Orphanet:190 Orphanet:98683 obsolete syndrome with a symptomatic strabismus -MONDO:0010269 Coats disease MONDO:0034943 Orphanet:190 Orphanet:519304 obsolete isolated vitreoretinopathy -MONDO:0010270 syndromic X-linked intellectual disability 7 MONDO:0035863 Orphanet:85274 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0010270 syndromic X-linked intellectual disability 7 MONDO:8000032 Orphanet:85274 Orphanet:377789 obsolete malformation syndrome -MONDO:0010271 X-linked myotubular myopathy-abnormal genitalia syndrome MONDO:0016154 Orphanet:456328 Orphanet:207110 obsolete qualitative or quantitative defects of myotubularin -MONDO:0010271 X-linked myotubular myopathy-abnormal genitalia syndrome MONDO:0020042 Orphanet:456328 Orphanet:98087 obsolete syndrome with 46,XY disorder of sex development -MONDO:0010271 X-linked myotubular myopathy-abnormal genitalia syndrome MONDO:0035862 Orphanet:456328 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome -MONDO:0010275 spondyloepimetaphyseal dysplasia, Bieganski type MONDO:0015918 Orphanet:83629 Orphanet:182070 obsolete rare neurodegenerative disease -MONDO:0010277 syndromic X-linked intellectual disability Shashi type MONDO:0035863 Orphanet:85286 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0010277 syndromic X-linked intellectual disability Shashi type MONDO:8000032 Orphanet:85286 Orphanet:377789 obsolete malformation syndrome -MONDO:0010278 Christianson syndrome MONDO:0015655 Orphanet:85278 Orphanet:166478 obsolete cerebral malformation with epilepsy -MONDO:0010278 Christianson syndrome MONDO:0020253 Orphanet:85278 Orphanet:98683 obsolete syndrome with a symptomatic strabismus -MONDO:0010278 Christianson syndrome MONDO:0035863 Orphanet:85278 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0010278 Christianson syndrome MONDO:8000032 Orphanet:85278 Orphanet:377789 obsolete malformation syndrome -MONDO:0010279 terminal osseous dysplasia-pigmentary defects syndrome MONDO:8000032 Orphanet:88630 Orphanet:377789 obsolete malformation syndrome -MONDO:0010281 Danon disease MONDO:0016118 Orphanet:34587 Orphanet:206959 obsolete muscular glycogenosis -MONDO:0010281 Danon disease MONDO:0016325 Orphanet:34587 Orphanet:217572 obsolete glycogen storage disease with hypertrophic cardiomyopathy -MONDO:0010281 Danon disease MONDO:0035862 Orphanet:34587 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome -MONDO:0010283 syndromic X-linked intellectual disability Lubs type MONDO:0035863 Orphanet:1762 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0010283 syndromic X-linked intellectual disability Lubs type MONDO:8000032 Orphanet:1762 Orphanet:377789 obsolete malformation syndrome -MONDO:0010284 Armfield syndrome MONDO:0020225 Orphanet:85276 Orphanet:98641 obsolete syndromic cataract -MONDO:0010284 Armfield syndrome MONDO:0035863 Orphanet:85276 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0010284 Armfield syndrome MONDO:8000032 Orphanet:85276 Orphanet:377789 obsolete malformation syndrome -MONDO:0010285 syndromic X-linked intellectual disability Abidi type MONDO:0035863 Orphanet:85273 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0010285 syndromic X-linked intellectual disability Abidi type MONDO:8000032 Orphanet:85273 Orphanet:377789 obsolete malformation syndrome -MONDO:0010286 syndromic X-linked intellectual disability Siderius type MONDO:0035863 Orphanet:85287 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0010286 syndromic X-linked intellectual disability Siderius type MONDO:8000032 Orphanet:85287 Orphanet:377789 obsolete malformation syndrome -MONDO:0010287 hereditary spastic paraplegia 16 MONDO:0017916 Orphanet:100997 Orphanet:320350 obsolete pure or complex X-linked spastic paraplegia -MONDO:0010288 adrenomyodystrophy MONDO:0020999 Orphanet:977 Orphanet:101960 obsolete genetic chronic primary adrenal insufficiency -MONDO:0010293 ectodermal dysplasia and immune deficiency MONDO:0018035 Orphanet:98813 Orphanet:331217 obsolete syndrome with combined immunodeficiency -MONDO:0010293 ectodermal dysplasia and immune deficiency MONDO:0020014 Orphanet:98813 Orphanet:98027 obsolete rare disease with odontological manifestation -MONDO:0010293 ectodermal dysplasia and immune deficiency MONDO:0020194 Orphanet:98813 Orphanet:98604 obsolete congenital alacrima -MONDO:0010295 anhidrotic ectodermal dysplasia-immunodeficiency-osteopetrosis-lymphedema syndrome MONDO:0018035 Orphanet:69088 Orphanet:331217 obsolete syndrome with combined immunodeficiency -MONDO:0010295 anhidrotic ectodermal dysplasia-immunodeficiency-osteopetrosis-lymphedema syndrome MONDO:0035471 Orphanet:69088 Orphanet:568047 obsolete disorder with multisystemic involvement and primary lymphedema -MONDO:0010305 creatine transporter deficiency MONDO:0019058 Orphanet:52503 Orphanet:68385 obsolete neurometabolic disease -MONDO:0010305 creatine transporter deficiency MONDO:0035863 Orphanet:52503 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0010306 X-linked intellectual disability, Cabezas type MONDO:0035863 Orphanet:85293 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0010306 X-linked intellectual disability, Cabezas type MONDO:8000032 Orphanet:85293 Orphanet:377789 obsolete malformation syndrome -MONDO:0010310 osteopathia striata with cranial sclerosis MONDO:0020018 Orphanet:2780 Orphanet:98038 obsolete cranial malformation -MONDO:0010310 osteopathia striata with cranial sclerosis MONDO:0026182 Orphanet:2780 Orphanet:183542 obsolete genetic cranial malformation -MONDO:0010310 osteopathia striata with cranial sclerosis MONDO:0035862 Orphanet:2780 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome -MONDO:0010310 osteopathia striata with cranial sclerosis MONDO:8000032 Orphanet:2780 Orphanet:377789 obsolete malformation syndrome -MONDO:0010311 Becker muscular dystrophy MONDO:0016899 Orphanet:98895 Orphanet:262 obsolete Duchenne and Becker muscular dystrophy -MONDO:0010323 Atkin-Flaitz syndrome MONDO:0035863 Orphanet:1193 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0010323 Atkin-Flaitz syndrome MONDO:8000032 Orphanet:1193 Orphanet:377789 obsolete malformation syndrome -MONDO:0010325 X-linked intellectual disability, Stocco dos Santos type MONDO:0035863 Orphanet:85288 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0010325 X-linked intellectual disability, Stocco dos Santos type MONDO:8000032 Orphanet:85288 Orphanet:377789 obsolete malformation syndrome -MONDO:0010327 HSD10 mitochondrial disease MONDO:0019058 Orphanet:391417 Orphanet:68385 obsolete neurometabolic disease -MONDO:0010327 HSD10 mitochondrial disease MONDO:0019213 Orphanet:391417 Orphanet:79158 obsolete cerebral organic aciduria -MONDO:0010327 HSD10 mitochondrial disease MONDO:0035862 Orphanet:391417 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome -MONDO:0010328 alpha-thalassemia-myelodysplastic syndrome MONDO:0016513 Orphanet:231401 Orphanet:232288 obsolete alpha-thalassemia-related diseases MONDO:0010330 obsolete primary ciliary dyskinesia-retinitis pigmentosa syndrome MONDO:0000001 Orphanet:247522 Orphanet:377788 disease -MONDO:0010330 obsolete primary ciliary dyskinesia-retinitis pigmentosa syndrome MONDO:0015118 Orphanet:247522 Orphanet:101944 obsolete rare pulmonary disease -MONDO:0010330 obsolete primary ciliary dyskinesia-retinitis pigmentosa syndrome MONDO:0015510 Orphanet:247522 Orphanet:156610 obsolete rare genetic respiratory disease -MONDO:0010330 obsolete primary ciliary dyskinesia-retinitis pigmentosa syndrome MONDO:0020240 Orphanet:247522 Orphanet:98661 obsolete syndromic retinitis pigmentosa -MONDO:0010332 X-linked intellectual disability-cubitus valgus-dysmorphism syndrome MONDO:0035863 Orphanet:85280 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0010332 X-linked intellectual disability-cubitus valgus-dysmorphism syndrome MONDO:8000032 Orphanet:85280 Orphanet:377789 obsolete malformation syndrome -MONDO:0010333 corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome MONDO:0016055 Orphanet:52055 Orphanet:199639 obsolete syndrome with corpus callosum agenesis /dysgenesis as a major feature -MONDO:0010333 corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome MONDO:0017122 Orphanet:52055 Orphanet:269573 obsolete genetic syndrome with corpus callosum agenesis/dysgenesis as a major feature -MONDO:0010333 corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome MONDO:0035863 Orphanet:52055 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0010333 corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome MONDO:8000032 Orphanet:52055 Orphanet:377789 obsolete malformation syndrome -MONDO:0010334 severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome MONDO:0018265 Orphanet:369939 Orphanet:370106 obsolete rare disorder with dystonia and other neurologic or systemic manifestation -MONDO:0010334 severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome MONDO:0019589 Orphanet:369939 Orphanet:90642 obsolete syndromic genetic hearing loss -MONDO:0010334 severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome MONDO:0035863 Orphanet:369939 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0010334 severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome MONDO:8000032 Orphanet:369939 Orphanet:377789 obsolete malformation syndrome -MONDO:0010336 orofaciodigital syndrome VIII MONDO:0019589 Orphanet:2755 Orphanet:90642 obsolete syndromic genetic hearing loss -MONDO:0010336 orofaciodigital syndrome VIII MONDO:8000032 Orphanet:2755 Orphanet:377789 obsolete malformation syndrome -MONDO:0010337 X-linked intellectual disability-cerebellar hypoplasia syndrome MONDO:0015655 Orphanet:137831 Orphanet:166478 obsolete cerebral malformation with epilepsy -MONDO:0010337 X-linked intellectual disability-cerebellar hypoplasia syndrome MONDO:0017118 Orphanet:137831 Orphanet:269523 obsolete syndrome with a cerebellar malformation as major feature -MONDO:0010337 X-linked intellectual disability-cerebellar hypoplasia syndrome MONDO:0035863 Orphanet:137831 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0010338 X-linked distal spinal muscular atrophy type 3 MONDO:0018451 Orphanet:139557 Orphanet:404538 obsolete X-linked distal hereditary motor neuropathy -MONDO:0010339 epilepsy, X-linked 1, with variable learning disabilities and behavior disorders MONDO:0035862 Orphanet:85294 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome -MONDO:0010353 deafness-intellectual disability, Martin-Probst type syndrome MONDO:0019589 Orphanet:85321 Orphanet:90642 obsolete syndromic genetic hearing loss -MONDO:0010353 deafness-intellectual disability, Martin-Probst type syndrome MONDO:0020225 Orphanet:85321 Orphanet:98641 obsolete syndromic cataract -MONDO:0010353 deafness-intellectual disability, Martin-Probst type syndrome MONDO:0035863 Orphanet:85321 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0010353 deafness-intellectual disability, Martin-Probst type syndrome MONDO:8000032 Orphanet:85321 Orphanet:377789 obsolete malformation syndrome -MONDO:0010354 Allan-Herndon-Dudley syndrome MONDO:0017916 Orphanet:59 Orphanet:320350 obsolete pure or complex X-linked spastic paraplegia -MONDO:0010354 Allan-Herndon-Dudley syndrome MONDO:0035689 Orphanet:59 Orphanet:596426 obsolete syndrome of reduced sensitivity to thyroid hormone -MONDO:0010354 Allan-Herndon-Dudley syndrome MONDO:0035862 Orphanet:59 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome -MONDO:0010355 syndromic X-linked intellectual disability Claes-Jensen type MONDO:0035863 Orphanet:85279 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0010355 syndromic X-linked intellectual disability Claes-Jensen type MONDO:8000032 Orphanet:85279 Orphanet:377789 obsolete malformation syndrome -MONDO:0010356 nephrogenic syndrome of inappropriate antidiuresis MONDO:0019744 Orphanet:93606 Orphanet:93603 obsolete rare renal tubular disease -MONDO:0010359 Dent disease type 2 MONDO:8000031 Orphanet:93623 Orphanet:557494 obsolete subtype of a disorder -MONDO:0010362 glycogen storage disease IXd MONDO:0016118 Orphanet:715 Orphanet:206959 obsolete muscular glycogenosis -MONDO:0010362 glycogen storage disease IXd MONDO:0018251 Orphanet:715 Orphanet:370 obsolete glycogen storage disease due to phosphorylase kinase deficiency -MONDO:0010364 X-linked intellectual disability-retinitis pigmentosa syndrome MONDO:0020240 Orphanet:85332 Orphanet:98661 obsolete syndromic retinitis pigmentosa -MONDO:0010364 X-linked intellectual disability-retinitis pigmentosa syndrome MONDO:0035862 Orphanet:85332 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome -MONDO:0010367 SHOX-related short stature MONDO:0019697 Orphanet:314795 Orphanet:93438 obsolete mesomelic and rhizo-mesomelic dysplasia -MONDO:0010375 developmental and epileptic encephalopathy, 8 MONDO:0015957 Orphanet:163985 Orphanet:183521 obsolete rare genetic movement disorder -MONDO:0010379 Brunner syndrome MONDO:0019058 Orphanet:3057 Orphanet:68385 obsolete neurometabolic disease -MONDO:0010379 Brunner syndrome MONDO:0035862 Orphanet:3057 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome -MONDO:0010382 fragile X-associated tremor/ataxia syndrome MONDO:0017644 Orphanet:93256 Orphanet:306712 obsolete rare tremor disorder -MONDO:0010382 fragile X-associated tremor/ataxia syndrome MONDO:0017663 Orphanet:93256 Orphanet:307061 obsolete inherited tremor disorder -MONDO:0010382 fragile X-associated tremor/ataxia syndrome MONDO:8000032 Orphanet:93256 Orphanet:377789 obsolete malformation syndrome -MONDO:0010383 fragile X syndrome MONDO:0015652 Orphanet:908 Orphanet:166469 obsolete chromosomal anomaly with epilepsy as a major feature -MONDO:0010383 fragile X syndrome MONDO:0015878 Orphanet:908 Orphanet:180772 obsolete rare disease with autism -MONDO:0010383 fragile X syndrome MONDO:0016565 Orphanet:908 Orphanet:240371 obsolete syndromic genetic obesity -MONDO:0010383 fragile X syndrome MONDO:0017656 Orphanet:908 Orphanet:306765 obsolete motor stereotypies -MONDO:0010383 fragile X syndrome MONDO:0020253 Orphanet:908 Orphanet:98683 obsolete syndrome with a symptomatic strabismus -MONDO:0010383 fragile X syndrome MONDO:0035863 Orphanet:908 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0010383 fragile X syndrome MONDO:8000032 Orphanet:908 Orphanet:377789 obsolete malformation syndrome -MONDO:0010385 X-linked lymphoproliferative disease due to XIAP deficiency MONDO:0015187 Orphanet:538934 Orphanet:104012 obsolete rare inflammatory bowel disease -MONDO:0010385 X-linked lymphoproliferative disease due to XIAP deficiency MONDO:0015616 Orphanet:538934 Orphanet:165655 obsolete rare genetic intestinal disease -MONDO:0010389 X-linked Mendelian susceptibility to mycobacterial diseases due to CYBB deficiency MONDO:8000031 Orphanet:319623 Orphanet:557494 obsolete subtype of a disorder -MONDO:0010390 ocular albinism with late-onset sensorineural deafness MONDO:0019589 Orphanet:1000 Orphanet:90642 obsolete syndromic genetic hearing loss -MONDO:0010392 glycogen storage disease due to phosphoglycerate kinase 1 deficiency MONDO:0016118 Orphanet:713 Orphanet:206959 obsolete muscular glycogenosis -MONDO:0010392 glycogen storage disease due to phosphoglycerate kinase 1 deficiency MONDO:0020106 Orphanet:713 Orphanet:98372 obsolete hemolytic anemia due to a disorder of glycolytic enzymes -MONDO:0010392 glycogen storage disease due to phosphoglycerate kinase 1 deficiency MONDO:0035862 Orphanet:713 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome -MONDO:0010395 phosphoribosylpyrophosphate synthetase superactivity MONDO:0019743 Orphanet:3222 Orphanet:93593 obsolete nephropathy secondary to a storage or other metabolic disease -MONDO:0010395 phosphoribosylpyrophosphate synthetase superactivity MONDO:0035862 Orphanet:3222 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome -MONDO:0010396 developmental and epileptic encephalopathy, 2 MONDO:0015680 Orphanet:505652 Orphanet:168778 obsolete rare pervasive developmental disorder -MONDO:0010396 developmental and epileptic encephalopathy, 2 MONDO:0017656 Orphanet:505652 Orphanet:306765 obsolete motor stereotypies -MONDO:0010396 developmental and epileptic encephalopathy, 2 MONDO:0035862 Orphanet:505652 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome -MONDO:0010399 chromosome Xp21 deletion syndrome MONDO:0035683 Orphanet:261476 Orphanet:595337 obsolete adrenal hypoplasia congenita -MONDO:0010400 X-linked scapuloperoneal muscular dystrophy MONDO:0018549 Orphanet:431272 Orphanet:431263 obsolete late-onset scapuloperoneal muscular dystrophy with hyaline bodies -MONDO:0010403 albinism-hearing loss syndrome MONDO:0019589 Orphanet:998 Orphanet:90642 obsolete syndromic genetic hearing loss -MONDO:0010403 albinism-hearing loss syndrome MONDO:8000032 Orphanet:998 Orphanet:377789 obsolete malformation syndrome -MONDO:0010408 syndactyly-telecanthus-anogenital and renal malformations syndrome MONDO:0015246 Orphanet:140952 Orphanet:117573 obsolete syndromic anorectal malformation -MONDO:0010408 syndactyly-telecanthus-anogenital and renal malformations syndrome MONDO:0017434 Orphanet:140952 Orphanet:294959 obsolete syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy -MONDO:0010408 syndactyly-telecanthus-anogenital and renal malformations syndrome MONDO:0043008 Orphanet:140952 Orphanet:330206 obsolete genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability -MONDO:0010408 syndactyly-telecanthus-anogenital and renal malformations syndrome MONDO:8000032 Orphanet:140952 Orphanet:377789 obsolete malformation syndrome -MONDO:0010409 syndromic X-linked intellectual disability Shrimpton type MONDO:0035863 Orphanet:85324 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0010409 syndromic X-linked intellectual disability Shrimpton type MONDO:8000032 Orphanet:85324 Orphanet:377789 obsolete malformation syndrome -MONDO:0010412 X-linked intellectual disability-craniofacioskeletal syndrome MONDO:0035863 Orphanet:163979 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0010417 syndromic X-linked intellectual disability Najm type MONDO:0017118 Orphanet:163937 Orphanet:269523 obsolete syndrome with a cerebellar malformation as major feature -MONDO:0010417 syndromic X-linked intellectual disability Najm type MONDO:0020225 Orphanet:163937 Orphanet:98641 obsolete syndromic cataract -MONDO:0010417 syndromic X-linked intellectual disability Najm type MONDO:0035863 Orphanet:163937 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0010418 hereditary spastic paraplegia 34 MONDO:0017912 Orphanet:171607 Orphanet:320332 obsolete X-linked pure spastic paraplegia -MONDO:0010420 X-linked erythropoietic protoporphyria MONDO:0015115 Orphanet:443197 Orphanet:101940 obsolete rare genetic metabolic liver disease -MONDO:0010421 Bruton-type agammaglobulinemia MONDO:8000031 Orphanet:47 Orphanet:557494 obsolete subtype of a disorder -MONDO:0010428 chromosome Xp11.23-p11.22 duplication syndrome MONDO:0015652 Orphanet:217377 Orphanet:166469 obsolete chromosomal anomaly with epilepsy as a major feature -MONDO:0010428 chromosome Xp11.23-p11.22 duplication syndrome MONDO:0035863 Orphanet:217377 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0010428 chromosome Xp11.23-p11.22 duplication syndrome MONDO:8000032 Orphanet:217377 Orphanet:377789 obsolete malformation syndrome -MONDO:0010437 severe X-linked mitochondrial encephalomyopathy MONDO:0018157 Orphanet:238329 Orphanet:35696 obsolete mitochondrial disorder due to a defect in mitochondrial protein synthesis -MONDO:0010437 severe X-linked mitochondrial encephalomyopathy MONDO:0019058 Orphanet:238329 Orphanet:68385 obsolete neurometabolic disease -MONDO:0010437 severe X-linked mitochondrial encephalomyopathy MONDO:0035862 Orphanet:238329 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome -MONDO:0010441 CK syndrome MONDO:0017120 Orphanet:251383 Orphanet:269531 obsolete other syndrome with a central nervous system malformation as major feature -MONDO:0010441 CK syndrome MONDO:0035862 Orphanet:251383 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome -MONDO:0010441 CK syndrome MONDO:8000032 Orphanet:251383 Orphanet:377789 obsolete malformation syndrome -MONDO:0010444 X-linked dyserythropoetic anemia with abnormal platelets and neutropenia MONDO:0016361 Orphanet:363727 Orphanet:220452 obsolete isolated hereditary giant platelet disorder -MONDO:0010448 moyamoya angiopathy-short stature-facial dysmorphism-hypergonadotropic hypogonadism syndrome MONDO:0015906 Orphanet:280679 Orphanet:181441 obsolete rare disorder with hypergonadotropic hypogonadism -MONDO:0010448 moyamoya angiopathy-short stature-facial dysmorphism-hypergonadotropic hypogonadism syndrome MONDO:0018792 Orphanet:280679 Orphanet:477771 obsolete Moyamoya syndrome -MONDO:0010448 moyamoya angiopathy-short stature-facial dysmorphism-hypergonadotropic hypogonadism syndrome MONDO:0035863 Orphanet:280679 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0010457 Ogden syndrome MONDO:0031689 Orphanet:276432 Orphanet:363245 obsolete genetic progeroid syndrome -MONDO:0010457 Ogden syndrome MONDO:0035863 Orphanet:276432 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0010457 Ogden syndrome MONDO:8000032 Orphanet:276432 Orphanet:377789 obsolete malformation syndrome -MONDO:0010460 syndromic X-linked intellectual disability 17 MONDO:0020194 Orphanet:289483 Orphanet:98604 obsolete congenital alacrima -MONDO:0010460 syndromic X-linked intellectual disability 17 MONDO:0035862 Orphanet:289483 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome -MONDO:0010461 syndromic X-linked intellectual disability Nascimento type MONDO:0035863 Orphanet:163956 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0010463 X-linked dominant chondrodysplasia, Chassaing-Lacombe type MONDO:0019697 Orphanet:163966 Orphanet:93438 obsolete mesomelic and rhizo-mesomelic dysplasia -MONDO:0010463 X-linked dominant chondrodysplasia, Chassaing-Lacombe type MONDO:0035863 Orphanet:163966 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0010464 X-linked cerebral-cerebellar-coloboma syndrome syndrome MONDO:0017118 Orphanet:163961 Orphanet:269523 obsolete syndrome with a cerebellar malformation as major feature -MONDO:0010464 X-linked cerebral-cerebellar-coloboma syndrome syndrome MONDO:0035863 Orphanet:163961 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0010466 multiple congenital anomalies-hypotonia-seizures syndrome 2 MONDO:0018287 Orphanet:300496 Orphanet:371071 obsolete congenital disorder of glycosylation with epilepsy as a major feature -MONDO:0010466 multiple congenital anomalies-hypotonia-seizures syndrome 2 MONDO:0018296 Orphanet:300496 Orphanet:371235 obsolete congenital disorder of glycosylation with developmental anomaly -MONDO:0010466 multiple congenital anomalies-hypotonia-seizures syndrome 2 MONDO:0035863 Orphanet:300496 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0010466 multiple congenital anomalies-hypotonia-seizures syndrome 2 MONDO:8000032 Orphanet:300496 Orphanet:377789 obsolete malformation syndrome -MONDO:0010467 Xq27.3q28 duplication syndrome MONDO:8000032 Orphanet:261483 Orphanet:377789 obsolete malformation syndrome -MONDO:0010472 developmental and epileptic encephalopathy, 36 MONDO:0018287 Orphanet:324422 Orphanet:371071 obsolete congenital disorder of glycosylation with epilepsy as a major feature -MONDO:0010472 developmental and epileptic encephalopathy, 36 MONDO:0018288 Orphanet:324422 Orphanet:371157 obsolete congenital disorder of glycosylation with hepatic involvement -MONDO:0010472 developmental and epileptic encephalopathy, 36 MONDO:0035862 Orphanet:324422 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome -MONDO:0010473 X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome MONDO:0015110 Orphanet:324410 Orphanet:101934 obsolete genetic cardiac rhythm disease -MONDO:0010473 X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome MONDO:0035862 Orphanet:324410 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome -MONDO:0010476 neurodegeneration with brain iron accumulation 5 MONDO:0035862 Orphanet:329284 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome -MONDO:0010477 blepharophimosis - intellectual disability syndrome, MKB type MONDO:8000032 Orphanet:293707 Orphanet:377789 obsolete malformation syndrome -MONDO:0010478 SLC35A2-congenital disorder of glycosylation MONDO:0017120 Orphanet:356961 Orphanet:269531 obsolete other syndrome with a central nervous system malformation as major feature -MONDO:0010478 SLC35A2-congenital disorder of glycosylation MONDO:0018287 Orphanet:356961 Orphanet:371071 obsolete congenital disorder of glycosylation with epilepsy as a major feature -MONDO:0010478 SLC35A2-congenital disorder of glycosylation MONDO:0018296 Orphanet:356961 Orphanet:371235 obsolete congenital disorder of glycosylation with developmental anomaly -MONDO:0010478 SLC35A2-congenital disorder of glycosylation MONDO:0035862 Orphanet:356961 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome -MONDO:0010480 anemia, nonspherocytic hemolytic, due to G6PD deficiency MONDO:0020106 Orphanet:466026 Orphanet:98372 obsolete hemolytic anemia due to a disorder of glycolytic enzymes -MONDO:0010482 X-linked parkinsonism-spasticity syndrome MONDO:0017635 Orphanet:363654 Orphanet:306666 obsolete parkinsonian syndrome due to neurodegenerative disease -MONDO:0010482 X-linked parkinsonism-spasticity syndrome MONDO:0017661 Orphanet:363654 Orphanet:307055 obsolete rare parkinsonian syndrome due to genetic neurodegenerative disease -MONDO:0010483 X-linked intellectual disability, Cantagrel type MONDO:0035862 Orphanet:85277 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome -MONDO:0010483 X-linked intellectual disability, Cantagrel type MONDO:8000032 Orphanet:85277 Orphanet:377789 obsolete malformation syndrome -MONDO:0010485 X-linked colobomatous microphthalmia-microcephaly-intellectual disability-short stature syndrome MONDO:0015329 Orphanet:431140 Orphanet:139021 obsolete malformation syndrome with short stature -MONDO:0010485 X-linked colobomatous microphthalmia-microcephaly-intellectual disability-short stature syndrome MONDO:0026187 Orphanet:431140 Orphanet:183570 obsolete genetic malformation syndrome with short stature -MONDO:0010485 X-linked colobomatous microphthalmia-microcephaly-intellectual disability-short stature syndrome MONDO:0035863 Orphanet:431140 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0010485 X-linked colobomatous microphthalmia-microcephaly-intellectual disability-short stature syndrome MONDO:8000032 Orphanet:431140 Orphanet:377789 obsolete malformation syndrome -MONDO:0010490 SSR4-congenital disorder of glycosylation MONDO:0018287 Orphanet:370927 Orphanet:371071 obsolete congenital disorder of glycosylation with epilepsy as a major feature -MONDO:0010490 SSR4-congenital disorder of glycosylation MONDO:0035863 Orphanet:370927 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0010496 X-linked intellectual disability-short stature-overweight syndrome MONDO:0015329 Orphanet:457240 Orphanet:139021 obsolete malformation syndrome with short stature -MONDO:0010496 X-linked intellectual disability-short stature-overweight syndrome MONDO:0026187 Orphanet:457240 Orphanet:183570 obsolete genetic malformation syndrome with short stature -MONDO:0010496 X-linked intellectual disability-short stature-overweight syndrome MONDO:0035863 Orphanet:457240 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0010496 X-linked intellectual disability-short stature-overweight syndrome MONDO:8000032 Orphanet:457240 Orphanet:377789 obsolete malformation syndrome -MONDO:0010498 MEND syndrome MONDO:0035863 Orphanet:401973 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0010498 MEND syndrome MONDO:8000032 Orphanet:401973 Orphanet:377789 obsolete malformation syndrome -MONDO:0010501 syndromic X-linked intellectual disability 34 MONDO:0035863 Orphanet:466791 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0010501 syndromic X-linked intellectual disability 34 MONDO:8000032 Orphanet:466791 Orphanet:377789 obsolete malformation syndrome -MONDO:0010503 Bartter disease type 5 MONDO:8000031 Orphanet:570371 Orphanet:557494 obsolete subtype of a disorder -MONDO:0010505 intellectual disability-balding-patella luxation-acromicria syndrome MONDO:0035863 Orphanet:3041 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0010505 intellectual disability-balding-patella luxation-acromicria syndrome MONDO:8000032 Orphanet:3041 Orphanet:377789 obsolete malformation syndrome -MONDO:0010507 Xq25 microduplication syndrome MONDO:0035863 Orphanet:521258 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0010507 Xq25 microduplication syndrome MONDO:8000032 Orphanet:521258 Orphanet:377789 obsolete malformation syndrome -MONDO:0010518 Wiskott-Aldrich syndrome MONDO:0015945 Orphanet:906 Orphanet:183422 obsolete polymalformative genetic syndrome with increased risk of developing cancer -MONDO:0010518 Wiskott-Aldrich syndrome MONDO:0018035 Orphanet:906 Orphanet:331217 obsolete syndrome with combined immunodeficiency -MONDO:0010518 Wiskott-Aldrich syndrome MONDO:0019305 Orphanet:906 Orphanet:79391 obsolete immune deficiency with skin involvement -MONDO:0010518 Wiskott-Aldrich syndrome MONDO:0020118 Orphanet:906 Orphanet:98456 obsolete dense granule disease -MONDO:0010518 Wiskott-Aldrich syndrome MONDO:0026166 Orphanet:906 Orphanet:183494 obsolete genetic immune deficiency with skin involvement -MONDO:0010519 alpha thalassemia-X-linked intellectual disability syndrome MONDO:0016513 Orphanet:847 Orphanet:232288 obsolete alpha-thalassemia-related diseases -MONDO:0010519 alpha thalassemia-X-linked intellectual disability syndrome MONDO:0017978 Orphanet:847 Orphanet:325638 obsolete syndrome with disorder of sex development of gynecological interest -MONDO:0010519 alpha thalassemia-X-linked intellectual disability syndrome MONDO:0020042 Orphanet:847 Orphanet:98087 obsolete syndrome with 46,XY disorder of sex development -MONDO:0010519 alpha thalassemia-X-linked intellectual disability syndrome MONDO:0035863 Orphanet:847 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0010519 alpha thalassemia-X-linked intellectual disability syndrome MONDO:8000032 Orphanet:847 Orphanet:377789 obsolete malformation syndrome -MONDO:0010520 X-linked Alport syndrome MONDO:8000031 Orphanet:88917 Orphanet:557494 obsolete subtype of a disorder -MONDO:0010523 X-linked reticulate pigmentary disorder MONDO:0015710 Orphanet:85453 Orphanet:169361 obsolete immune dysregulation disease with immunodeficiency -MONDO:0010523 X-linked reticulate pigmentary disorder MONDO:0018782 Orphanet:85453 Orphanet:477647 obsolete type 1 interferonopathy -MONDO:0010523 X-linked reticulate pigmentary disorder MONDO:0020215 Orphanet:85453 Orphanet:98628 obsolete syndromic corneal dystrophy -MONDO:0010524 X-linked sideroblastic anemia with ataxia MONDO:0016803 Orphanet:2802 Orphanet:254837 obsolete unspecified inborn mitochondrial disorder -MONDO:0010526 Fabry disease MONDO:0015948 Orphanet:324 Orphanet:183478 obsolete rare genetic skin vascular disorder -MONDO:0010526 Fabry disease MONDO:0016133 Orphanet:324 Orphanet:207018 obsolete rare hereditary metabolic disease with peripheral neuropathy -MONDO:0010526 Fabry disease MONDO:0016326 Orphanet:324 Orphanet:217581 obsolete lysosomal disease with hypertrophic cardiomyopathy -MONDO:0010526 Fabry disease MONDO:0016341 Orphanet:324 Orphanet:217638 obsolete lysosomal disease with restrictive cardiomyopathy -MONDO:0010526 Fabry disease MONDO:0018299 Orphanet:324 Orphanet:371442 obsolete sphingolipidosis with epilepsy -MONDO:0010526 Fabry disease MONDO:0019743 Orphanet:324 Orphanet:93593 obsolete nephropathy secondary to a storage or other metabolic disease -MONDO:0010526 Fabry disease MONDO:0020228 Orphanet:324 Orphanet:98644 obsolete cataract associated with a metabolic disease -MONDO:0010526 Fabry disease MONDO:0035471 Orphanet:324 Orphanet:568047 obsolete disorder with multisystemic involvement and primary lymphedema -MONDO:0010529 X-linked spinocerebellar ataxia type 3 MONDO:0035863 Orphanet:85297 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0010529 X-linked spinocerebellar ataxia type 3 MONDO:8000032 Orphanet:85297 Orphanet:377789 obsolete malformation syndrome -MONDO:0010531 contractures-ectodermal dysplasia-cleft lip/palate syndrome MONDO:0015335 Orphanet:1484 Orphanet:139039 obsolete Mendelian syndromes with cleft lip/palate -MONDO:0010531 contractures-ectodermal dysplasia-cleft lip/palate syndrome MONDO:0035863 Orphanet:1484 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0010531 contractures-ectodermal dysplasia-cleft lip/palate syndrome MONDO:8000032 Orphanet:1484 Orphanet:377789 obsolete malformation syndrome -MONDO:0010532 infantile-onset X-linked spinal muscular atrophy MONDO:0018451 Orphanet:1145 Orphanet:404538 obsolete X-linked distal hereditary motor neuropathy -MONDO:0010533 Arts syndrome MONDO:0019589 Orphanet:1187 Orphanet:90642 obsolete syndromic genetic hearing loss -MONDO:0010533 Arts syndrome MONDO:0035862 Orphanet:1187 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome -MONDO:0010534 X-linked spinocerebellar ataxia type 4 MONDO:0019515 Orphanet:85292 Orphanet:89043 obsolete rare dementia -MONDO:0010534 X-linked spinocerebellar ataxia type 4 MONDO:0035862 Orphanet:85292 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome -MONDO:0010535 Bazex-Dupre-Christol syndrome MONDO:0015331 Orphanet:113 Orphanet:139027 obsolete malformation syndrome with skin/mucosae involvement -MONDO:0010535 Bazex-Dupre-Christol syndrome MONDO:0015945 Orphanet:166113 Orphanet:183422 obsolete polymalformative genetic syndrome with increased risk of developing cancer -MONDO:0010535 Bazex-Dupre-Christol syndrome MONDO:0015950 Orphanet:113 Orphanet:183487 obsolete inherited skin tumor -MONDO:0010535 Bazex-Dupre-Christol syndrome MONDO:0019300 Orphanet:113 Orphanet:79386 obsolete rare skin tumor or hamartoma -MONDO:0010535 Bazex-Dupre-Christol syndrome MONDO:0019546 Orphanet:166113 Orphanet:90077 obsolete other acquired skin disease -MONDO:0010537 Borjeson-Forssman-Lehmann syndrome MONDO:0016565 Orphanet:127 Orphanet:240371 obsolete syndromic genetic obesity -MONDO:0010537 Borjeson-Forssman-Lehmann syndrome MONDO:0020169 Orphanet:127 Orphanet:98578 obsolete rare disorder with ptosis -MONDO:0010537 Borjeson-Forssman-Lehmann syndrome MONDO:0035863 Orphanet:127 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0010537 Borjeson-Forssman-Lehmann syndrome MONDO:8000032 Orphanet:127 Orphanet:377789 obsolete malformation syndrome -MONDO:0010538 Mononen-Karnes-Senac syndrome MONDO:0800093 Orphanet:2565 Orphanet:498451 obsolete dysostosis with brachydactyly without extraskeletal manifestations -MONDO:0010538 Mononen-Karnes-Senac syndrome MONDO:8000032 Orphanet:2565 Orphanet:377789 obsolete malformation syndrome -MONDO:0010539 X-linked mandibulofacial dysostosis MONDO:0015334 Orphanet:1131 Orphanet:139036 obsolete branchial arch or oral-acral syndrome -MONDO:0010539 X-linked mandibulofacial dysostosis MONDO:0026189 Orphanet:1131 Orphanet:183576 obsolete genetic branchial arch or oral-acral syndrome -MONDO:0010539 X-linked mandibulofacial dysostosis MONDO:0035863 Orphanet:1131 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0010539 X-linked mandibulofacial dysostosis MONDO:8000032 Orphanet:1131 Orphanet:377789 obsolete malformation syndrome -MONDO:0010540 bullous dystrophy, macular type MONDO:0019274 Orphanet:1867 Orphanet:79359 obsolete other epidermal disorder -MONDO:0010540 bullous dystrophy, macular type MONDO:0019275 Orphanet:1867 Orphanet:79360 obsolete other genetic epidermal disease -MONDO:0010540 bullous dystrophy, macular type MONDO:0035862 Orphanet:1867 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome -MONDO:0010541 X-linked calvarial hyperostosis MONDO:0800084 Orphanet:391327 Orphanet:93444 obsolete primary bone dysplasia with increased bone density -MONDO:0010543 Barth syndrome MONDO:0016335 Orphanet:111 Orphanet:217613 obsolete mitochondrial disease with dilated cardiomyopathy -MONDO:0010543 Barth syndrome MONDO:0018032 Orphanet:111 Orphanet:331184 obsolete constitutional neutropenia with extra-hematopoietic manifestations -MONDO:0010543 Barth syndrome MONDO:0018120 Orphanet:111 Orphanet:352312 obsolete disorder of phospholipids, sphingolipids and fatty acids biosynthesis with skeletal muscle predominant involvement -MONDO:0010545 Nance-Horan syndrome MONDO:0015336 Orphanet:627 Orphanet:139042 obsolete malformation syndrome with odontal and/or periodontal component -MONDO:0010545 Nance-Horan syndrome MONDO:0020233 Orphanet:627 Orphanet:98649 obsolete dentocutaneous disease with cataract -MONDO:0010545 Nance-Horan syndrome MONDO:0026190 Orphanet:627 Orphanet:183580 obsolete genetic malformation syndrome with odontal and/or periodontal component -MONDO:0010545 Nance-Horan syndrome MONDO:0035863 Orphanet:627 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0010545 Nance-Horan syndrome MONDO:8000032 Orphanet:627 Orphanet:377789 obsolete malformation syndrome -MONDO:0010547 X-linked progressive cerebellar ataxia MONDO:0035862 Orphanet:1175 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome -MONDO:0010554 Abruzzo-Erickson syndrome MONDO:0015335 Orphanet:921 Orphanet:139039 obsolete Mendelian syndromes with cleft lip/palate -MONDO:0010554 Abruzzo-Erickson syndrome MONDO:0015620 Orphanet:921 Orphanet:165707 obsolete syndromic urogenital tract malformation -MONDO:0010554 Abruzzo-Erickson syndrome MONDO:0043008 Orphanet:921 Orphanet:330206 obsolete genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability -MONDO:0010554 Abruzzo-Erickson syndrome MONDO:8000032 Orphanet:921 Orphanet:377789 obsolete malformation syndrome -MONDO:0010555 X-linked chondrodysplasia punctata 1 MONDO:0019602 Orphanet:79345 Orphanet:91088 obsolete other inborn metabolic disease -MONDO:0010555 X-linked chondrodysplasia punctata 1 MONDO:8000032 Orphanet:79345 Orphanet:377789 obsolete malformation syndrome -MONDO:0010558 choroideremia-deafness-obesity syndrome MONDO:0016565 Orphanet:1435 Orphanet:240371 obsolete syndromic genetic obesity -MONDO:0010558 choroideremia-deafness-obesity syndrome MONDO:0019589 Orphanet:1435 Orphanet:90642 obsolete syndromic genetic hearing loss -MONDO:0010558 choroideremia-deafness-obesity syndrome MONDO:8000032 Orphanet:1435 Orphanet:377789 obsolete malformation syndrome -MONDO:0010559 MASA syndrome MONDO:0020339 Orphanet:2466 Orphanet:98888 obsolete X-linked complex spastic paraplegia -MONDO:0010559 MASA syndrome MONDO:8000031 Orphanet:2466 Orphanet:557494 obsolete subtype of a disorder -MONDO:0010560 cleft palate with or without ankyloglossia, X-linked MONDO:0015335 Orphanet:324601 Orphanet:139039 obsolete Mendelian syndromes with cleft lip/palate -MONDO:0010560 cleft palate with or without ankyloglossia, X-linked MONDO:8000032 Orphanet:324601 Orphanet:377789 obsolete malformation syndrome -MONDO:0010561 Coffin-Lowry syndrome MONDO:0016565 Orphanet:192 Orphanet:240371 obsolete syndromic genetic obesity -MONDO:0010561 Coffin-Lowry syndrome MONDO:0035863 Orphanet:192 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0010561 Coffin-Lowry syndrome MONDO:8000032 Orphanet:192 Orphanet:377789 obsolete malformation syndrome -MONDO:0010562 colonic atresia MONDO:0015211 Orphanet:1198 Orphanet:108967 obsolete non-syndromic intestinal malformation -MONDO:0010562 colonic atresia MONDO:8000030 Orphanet:1198 Orphanet:377791 obsolete morphological anomaly -MONDO:0010568 Aicardi syndrome MONDO:0015655 Orphanet:50 Orphanet:166478 obsolete cerebral malformation with epilepsy -MONDO:0010568 Aicardi syndrome MONDO:0015945 Orphanet:50 Orphanet:183422 obsolete polymalformative genetic syndrome with increased risk of developing cancer -MONDO:0010568 Aicardi syndrome MONDO:0016055 Orphanet:50 Orphanet:199639 obsolete syndrome with corpus callosum agenesis /dysgenesis as a major feature -MONDO:0010568 Aicardi syndrome MONDO:0017122 Orphanet:50 Orphanet:269573 obsolete genetic syndrome with corpus callosum agenesis/dysgenesis as a major feature -MONDO:0010568 Aicardi syndrome MONDO:0034953 Orphanet:50 Orphanet:519325 obsolete syndromic inherited retinal disorder -MONDO:0010568 Aicardi syndrome MONDO:0035862 Orphanet:50 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome -MONDO:0010569 X-linked complicated corpus callosum dysgenesis MONDO:8000031 Orphanet:1497 Orphanet:557494 obsolete subtype of a disorder -MONDO:0010570 craniofrontonasal syndrome MONDO:0035863 Orphanet:1520 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0010570 craniofrontonasal syndrome MONDO:8000032 Orphanet:1520 Orphanet:377789 obsolete malformation syndrome -MONDO:0010571 otopalatodigital syndrome type 2 MONDO:0015334 Orphanet:90652 Orphanet:139036 obsolete branchial arch or oral-acral syndrome -MONDO:0010571 otopalatodigital syndrome type 2 MONDO:0015336 Orphanet:90652 Orphanet:139042 obsolete malformation syndrome with odontal and/or periodontal component -MONDO:0010571 otopalatodigital syndrome type 2 MONDO:0015501 Orphanet:90652 Orphanet:156237 obsolete syndrome or malformation associated with head and neck malformations -MONDO:0010571 otopalatodigital syndrome type 2 MONDO:0019589 Orphanet:90652 Orphanet:90642 obsolete syndromic genetic hearing loss -MONDO:0010571 otopalatodigital syndrome type 2 MONDO:0026189 Orphanet:90652 Orphanet:183576 obsolete genetic branchial arch or oral-acral syndrome -MONDO:0010571 otopalatodigital syndrome type 2 MONDO:0035863 Orphanet:90652 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0010571 otopalatodigital syndrome type 2 MONDO:8000032 Orphanet:90652 Orphanet:377789 obsolete malformation syndrome -MONDO:0010572 occipital horn syndrome MONDO:0035863 Orphanet:198 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0010574 syndromic X-linked intellectual disability 5 MONDO:0017121 Orphanet:1568 Orphanet:269546 obsolete syndrome with a Dandy-Walker malformation as major feature -MONDO:0010574 syndromic X-linked intellectual disability 5 MONDO:0020253 Orphanet:1568 Orphanet:98683 obsolete syndrome with a symptomatic strabismus -MONDO:0010574 syndromic X-linked intellectual disability 5 MONDO:0035863 Orphanet:1568 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0010574 syndromic X-linked intellectual disability 5 MONDO:0035863 Orphanet:85329 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0010574 syndromic X-linked intellectual disability 5 MONDO:8000032 Orphanet:1568 Orphanet:377789 obsolete malformation syndrome -MONDO:0010574 syndromic X-linked intellectual disability 5 MONDO:8000032 Orphanet:85329 Orphanet:377789 obsolete malformation syndrome -MONDO:0010575 deafness-hypogonadism syndrome MONDO:0015906 Orphanet:90646 Orphanet:181441 obsolete rare disorder with hypergonadotropic hypogonadism -MONDO:0010575 deafness-hypogonadism syndrome MONDO:0019589 Orphanet:90646 Orphanet:90642 obsolete syndromic genetic hearing loss -MONDO:0010575 deafness-hypogonadism syndrome MONDO:8000032 Orphanet:90646 Orphanet:377789 obsolete malformation syndrome -MONDO:0010578 deafness dystonia syndrome MONDO:0015918 Orphanet:52368 Orphanet:182070 obsolete rare neurodegenerative disease -MONDO:0010578 deafness dystonia syndrome MONDO:0018609 Orphanet:52368 Orphanet:441434 obsolete syndromic hereditary optic neuropathy -MONDO:0010578 deafness dystonia syndrome MONDO:0019589 Orphanet:52368 Orphanet:90642 obsolete syndromic genetic hearing loss -MONDO:0010578 deafness dystonia syndrome MONDO:0035862 Orphanet:52368 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome -MONDO:0010579 X-linked corneal dermoid MONDO:0020215 Orphanet:1661 Orphanet:98628 obsolete syndromic corneal dystrophy -MONDO:0010580 immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome MONDO:0015709 Orphanet:37042 Orphanet:169355 obsolete immunodeficiency syndrome with autoimmunity -MONDO:0010580 immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome MONDO:0026209 Orphanet:37042 Orphanet:183643 obsolete genetic polyendocrinopathy -MONDO:0010585 X-linked hypohidrotic ectodermal dysplasia MONDO:8000031 Orphanet:181 Orphanet:557494 obsolete subtype of a disorder -MONDO:0010590 FG syndrome 1 MONDO:0015246 Orphanet:93932 Orphanet:117573 obsolete syndromic anorectal malformation -MONDO:0010590 FG syndrome 1 MONDO:0017120 Orphanet:93932 Orphanet:269531 obsolete other syndrome with a central nervous system malformation as major feature -MONDO:0010590 FG syndrome 1 MONDO:0035863 Orphanet:93932 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0010592 focal dermal hypoplasia MONDO:0020063 Orphanet:2092 Orphanet:98196 obsolete malformation syndrome with hamartosis -MONDO:0010592 focal dermal hypoplasia MONDO:0020237 Orphanet:2092 Orphanet:98655 obsolete lens shape anomaly -MONDO:0010592 focal dermal hypoplasia MONDO:0034937 Orphanet:2092 Orphanet:519292 obsolete syndromic ectopia lentis -MONDO:0010592 focal dermal hypoplasia MONDO:0035863 Orphanet:2092 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0010592 focal dermal hypoplasia MONDO:0957001 Orphanet:2092 Orphanet:183481 obsolete hereditary mixed dermis disorder -MONDO:0010592 focal dermal hypoplasia MONDO:8000032 Orphanet:2092 Orphanet:377789 obsolete malformation syndrome -MONDO:0010610 holoprosencephaly-hypokinesia-congenital contractures syndrome MONDO:0017120 Orphanet:2570 Orphanet:269531 obsolete other syndrome with a central nervous system malformation as major feature -MONDO:0010610 holoprosencephaly-hypokinesia-congenital contractures syndrome MONDO:0018731 Orphanet:2570 Orphanet:459787 obsolete lethal multiple congenital anomalies/dysmorphic syndrome -MONDO:0010610 holoprosencephaly-hypokinesia-congenital contractures syndrome MONDO:8000032 Orphanet:2570 Orphanet:377789 obsolete malformation syndrome -MONDO:0010611 X-linked hydrocephalus with stenosis of the aqueduct of Sylvius MONDO:8000031 Orphanet:2182 Orphanet:557494 obsolete subtype of a disorder -MONDO:0010612 hydrocephaly-cerebellar agenesis syndrome MONDO:0017114 Orphanet:1397 Orphanet:269224 obsolete global cerebellar malformation -MONDO:0010612 hydrocephaly-cerebellar agenesis syndrome MONDO:8000032 Orphanet:1397 Orphanet:377789 obsolete malformation syndrome -MONDO:0010613 inborn glycerol kinase deficiency MONDO:0019227 Orphanet:308993 Orphanet:79179 obsolete inborn disorder of glycerol metabolism -MONDO:0010614 X-linked congenital generalized hypertrichosis MONDO:8000031 Orphanet:79495 Orphanet:557494 obsolete subtype of a disorder -MONDO:0010615 isolated growth hormone deficiency type III MONDO:8000031 Orphanet:231692 Orphanet:557494 obsolete subtype of a disorder -MONDO:0010617 male hypergonadotropic hypogonadism-intellectual disability-skeletal anomalies syndrome MONDO:0015906 Orphanet:2234 Orphanet:181441 obsolete rare disorder with hypergonadotropic hypogonadism -MONDO:0010617 male hypergonadotropic hypogonadism-intellectual disability-skeletal anomalies syndrome MONDO:0035863 Orphanet:2234 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0010617 male hypergonadotropic hypogonadism-intellectual disability-skeletal anomalies syndrome MONDO:8000032 Orphanet:2234 Orphanet:377789 obsolete malformation syndrome -MONDO:0010618 familial isolated hypoparathyroidism due to agenesis of parathyroid gland MONDO:8000031 Orphanet:2239 Orphanet:557494 obsolete subtype of a disorder -MONDO:0010621 CHILD syndrome MONDO:0015331 Orphanet:139 Orphanet:139027 obsolete malformation syndrome with skin/mucosae involvement -MONDO:0010621 CHILD syndrome MONDO:0017414 Orphanet:139 Orphanet:294057 obsolete rare nevus -MONDO:0010621 CHILD syndrome MONDO:0043008 Orphanet:139 Orphanet:330206 obsolete genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability -MONDO:0010622 recessive X-linked ichthyosis MONDO:0017262 Orphanet:461 Orphanet:281082 obsolete inherited non-syndromic ichthyosis -MONDO:0010622 recessive X-linked ichthyosis MONDO:0020215 Orphanet:461 Orphanet:98628 obsolete syndromic corneal dystrophy -MONDO:0010626 hyper-IgM syndrome type 1 MONDO:0015975 Orphanet:101088 Orphanet:183663 obsolete hyper-IgM syndrome with susceptibility to opportunistic infections -MONDO:0010626 hyper-IgM syndrome type 1 MONDO:8000031 Orphanet:101088 Orphanet:557494 obsolete subtype of a disorder -MONDO:0010631 incontinentia pigmenti MONDO:0015651 Orphanet:464 Orphanet:166466 obsolete neurocutaneous syndrome with epilepsy -MONDO:0010631 incontinentia pigmenti MONDO:0020014 Orphanet:464 Orphanet:98027 obsolete rare disease with odontological manifestation -MONDO:0010631 incontinentia pigmenti MONDO:0034954 Orphanet:464 Orphanet:519327 obsolete syndromic vitreoretinopathy -MONDO:0010631 incontinentia pigmenti MONDO:0035862 Orphanet:464 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome -MONDO:0010631 incontinentia pigmenti MONDO:8000032 Orphanet:464 Orphanet:377789 obsolete malformation syndrome -MONDO:0010638 keratosis follicularis-dwarfism-cerebral atrophy syndrome MONDO:0019274 Orphanet:2339 Orphanet:79359 obsolete other epidermal disorder -MONDO:0010638 keratosis follicularis-dwarfism-cerebral atrophy syndrome MONDO:0019275 Orphanet:2339 Orphanet:79360 obsolete other genetic epidermal disease -MONDO:0010638 keratosis follicularis-dwarfism-cerebral atrophy syndrome MONDO:0035863 Orphanet:2339 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0010638 keratosis follicularis-dwarfism-cerebral atrophy syndrome MONDO:8000032 Orphanet:2339 Orphanet:377789 obsolete malformation syndrome -MONDO:0010639 laryngeal abductor paralysis-intellectual disability syndrome MONDO:0035862 Orphanet:2375 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome -MONDO:0010639 laryngeal abductor paralysis-intellectual disability syndrome MONDO:8000032 Orphanet:2375 Orphanet:377789 obsolete malformation syndrome -MONDO:0010641 X-linked diffuse leiomyomatosis-Alport syndrome MONDO:8000031 Orphanet:1018 Orphanet:557494 obsolete subtype of a disorder -MONDO:0010645 oculocerebrorenal syndrome MONDO:0019744 Orphanet:534 Orphanet:93603 obsolete rare renal tubular disease -MONDO:0010645 oculocerebrorenal syndrome MONDO:0020222 Orphanet:534 Orphanet:98638 obsolete rare disease with glaucoma as a major feature -MONDO:0010645 oculocerebrorenal syndrome MONDO:0020230 Orphanet:534 Orphanet:98646 obsolete renal disease with cataract -MONDO:0010645 oculocerebrorenal syndrome MONDO:0022409 Orphanet:534 Orphanet:156162 obsolete nephropathy-associated ciliopathy -MONDO:0010645 oculocerebrorenal syndrome MONDO:0035862 Orphanet:534 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome -MONDO:0010645 oculocerebrorenal syndrome MONDO:8000032 Orphanet:534 Orphanet:377789 obsolete malformation syndrome -MONDO:0010649 isolated congenital megalocornea MONDO:0020219 Orphanet:91489 Orphanet:98635 obsolete corneogoniodysgenesis -MONDO:0010649 isolated congenital megalocornea MONDO:8000030 Orphanet:91489 Orphanet:377791 obsolete morphological anomaly -MONDO:0010650 Melnick-Needles syndrome MONDO:0043008 Orphanet:2484 Orphanet:330206 obsolete genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability -MONDO:0010650 Melnick-Needles syndrome MONDO:8000032 Orphanet:2484 Orphanet:377789 obsolete malformation syndrome -MONDO:0010651 Menkes disease MONDO:0016400 Orphanet:565 Orphanet:225692 obsolete metal transport or utilization disorder with epilepsy -MONDO:0010651 Menkes disease MONDO:0019058 Orphanet:565 Orphanet:68385 obsolete neurometabolic disease -MONDO:0010651 Menkes disease MONDO:0019282 Orphanet:565 Orphanet:79367 obsolete syndromic hair shaft abnormality -MONDO:0010651 Menkes disease MONDO:0035862 Orphanet:565 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome -MONDO:0010652 X-linked intellectual disability-seizures-psoriasis syndrome MONDO:0020253 Orphanet:3052 Orphanet:98683 obsolete syndrome with a symptomatic strabismus -MONDO:0010652 X-linked intellectual disability-seizures-psoriasis syndrome MONDO:0035863 Orphanet:3052 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0010653 Renpenning syndrome MONDO:0035863 Orphanet:3242 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0010653 Renpenning syndrome MONDO:8000032 Orphanet:3242 Orphanet:377789 obsolete malformation syndrome -MONDO:0010654 Partington syndrome MONDO:0015921 Orphanet:94083 Orphanet:182079 obsolete ARX-related epileptic encephalopathy -MONDO:0010654 Partington syndrome MONDO:0035862 Orphanet:94083 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome -MONDO:0010654 Partington syndrome MONDO:8000032 Orphanet:94083 Orphanet:377789 obsolete malformation syndrome -MONDO:0010655 X-linked intellectual disability with marfanoid habitus MONDO:0035863 Orphanet:776 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0010655 X-linked intellectual disability with marfanoid habitus MONDO:8000032 Orphanet:776 Orphanet:377789 obsolete malformation syndrome -MONDO:0010657 methylmalonic acidemia with homocystinuria, type cblX MONDO:8000031 Orphanet:369962 Orphanet:557494 obsolete subtype of a disorder -MONDO:0010658 syndromic X-linked intellectual disability 12 MONDO:0035862 Orphanet:85290 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome -MONDO:0010658 syndromic X-linked intellectual disability 12 MONDO:8000032 Orphanet:85290 Orphanet:377789 obsolete malformation syndrome -MONDO:0010659 FRAXE intellectual disability MONDO:0035862 Orphanet:100973 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome -MONDO:0010661 severe X-linked intellectual disability, Gustavson type MONDO:0018609 Orphanet:3078 Orphanet:441434 obsolete syndromic hereditary optic neuropathy -MONDO:0010661 severe X-linked intellectual disability, Gustavson type MONDO:0035863 Orphanet:3078 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0010661 severe X-linked intellectual disability, Gustavson type MONDO:8000032 Orphanet:3078 Orphanet:377789 obsolete malformation syndrome -MONDO:0010662 paraplegia-intellectual disability-hyperkeratosis syndrome MONDO:0035863 Orphanet:2824 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0010662 paraplegia-intellectual disability-hyperkeratosis syndrome MONDO:8000032 Orphanet:2824 Orphanet:377789 obsolete malformation syndrome -MONDO:0010664 syndromic X-linked intellectual disability Snyder type MONDO:0035863 Orphanet:3063 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0010665 Wilson-Turner syndrome MONDO:0016565 Orphanet:3459 Orphanet:240371 obsolete syndromic genetic obesity -MONDO:0010665 Wilson-Turner syndrome MONDO:0035863 Orphanet:3459 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0010665 Wilson-Turner syndrome MONDO:8000032 Orphanet:3459 Orphanet:377789 obsolete malformation syndrome -MONDO:0010667 Prieto syndrome MONDO:0035863 Orphanet:2958 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0010667 Prieto syndrome MONDO:8000032 Orphanet:2958 Orphanet:377789 obsolete malformation syndrome -MONDO:0010668 skeletal dysplasia-intellectual disability syndrome MONDO:0015246 Orphanet:1436 Orphanet:117573 obsolete syndromic anorectal malformation -MONDO:0010668 skeletal dysplasia-intellectual disability syndrome MONDO:0035863 Orphanet:1436 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0010668 skeletal dysplasia-intellectual disability syndrome MONDO:8000032 Orphanet:1436 Orphanet:377789 obsolete malformation syndrome -MONDO:0010669 syndactyly type 8 MONDO:8000030 Orphanet:2498 Orphanet:377791 obsolete morphological anomaly -MONDO:0010671 microphthalmia, syndromic 1 MONDO:0020156 Orphanet:85275 Orphanet:98565 obsolete syndromic ankyloblepharon -MONDO:0010671 microphthalmia, syndromic 1 MONDO:0035863 Orphanet:85275 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0010671 microphthalmia, syndromic 1 MONDO:8000032 Orphanet:85275 Orphanet:377789 obsolete malformation syndrome -MONDO:0010672 linear skin defects with multiple congenital anomalies MONDO:0015246 Orphanet:2556 Orphanet:117573 obsolete syndromic anorectal malformation -MONDO:0010672 linear skin defects with multiple congenital anomalies MONDO:0015331 Orphanet:2556 Orphanet:139027 obsolete malformation syndrome with skin/mucosae involvement -MONDO:0010672 linear skin defects with multiple congenital anomalies MONDO:0020222 Orphanet:2556 Orphanet:98638 obsolete rare disease with glaucoma as a major feature -MONDO:0010672 linear skin defects with multiple congenital anomalies MONDO:0035863 Orphanet:2556 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0010672 linear skin defects with multiple congenital anomalies MONDO:0957001 Orphanet:2556 Orphanet:183481 obsolete hereditary mixed dermis disorder -MONDO:0010672 linear skin defects with multiple congenital anomalies MONDO:8000032 Orphanet:2556 Orphanet:377789 obsolete malformation syndrome -MONDO:0010674 mucopolysaccharidosis type 2 MONDO:0016326 Orphanet:580 Orphanet:217581 obsolete lysosomal disease with hypertrophic cardiomyopathy -MONDO:0010674 mucopolysaccharidosis type 2 MONDO:0019058 Orphanet:580 Orphanet:68385 obsolete neurometabolic disease -MONDO:0010674 mucopolysaccharidosis type 2 MONDO:0019301 Orphanet:79388 Orphanet:79387 obsolete metabolic disease with skin involvement -MONDO:0010674 mucopolysaccharidosis type 2 MONDO:0020169 Orphanet:580 Orphanet:98578 obsolete rare disorder with ptosis -MONDO:0010674 mucopolysaccharidosis type 2 MONDO:0035862 Orphanet:580 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome -MONDO:0010679 Duchenne muscular dystrophy MONDO:0016899 Orphanet:98896 Orphanet:262 obsolete Duchenne and Becker muscular dystrophy -MONDO:0010679 Duchenne muscular dystrophy MONDO:0035862 Orphanet:98896 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome -MONDO:0010680 X-linked Emery-Dreifuss muscular dystrophy MONDO:0016196 Orphanet:98863 Orphanet:209188 obsolete qualitative or quantitative defects of emerin -MONDO:0010680 X-linked Emery-Dreifuss muscular dystrophy MONDO:8000031 Orphanet:98863 Orphanet:557494 obsolete subtype of a disorder -MONDO:0010683 X-linked myotubular myopathy MONDO:0016154 Orphanet:596 Orphanet:207110 obsolete qualitative or quantitative defects of myotubularin -MONDO:0010683 X-linked myotubular myopathy MONDO:0020169 Orphanet:596 Orphanet:98578 obsolete rare disorder with ptosis -MONDO:0010683 X-linked myotubular myopathy MONDO:0035862 Orphanet:596 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome -MONDO:0010686 N syndrome MONDO:0015945 Orphanet:2608 Orphanet:183422 obsolete polymalformative genetic syndrome with increased risk of developing cancer -MONDO:0010686 N syndrome MONDO:0019589 Orphanet:2608 Orphanet:90642 obsolete syndromic genetic hearing loss -MONDO:0010686 N syndrome MONDO:0035863 Orphanet:2608 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0010686 N syndrome MONDO:8000032 Orphanet:2608 Orphanet:377789 obsolete malformation syndrome -MONDO:0010691 Norrie disease MONDO:0019589 Orphanet:649 Orphanet:90642 obsolete syndromic genetic hearing loss -MONDO:0010691 Norrie disease MONDO:0020225 Orphanet:649 Orphanet:98641 obsolete syndromic cataract -MONDO:0010691 Norrie disease MONDO:0034954 Orphanet:649 Orphanet:519327 obsolete syndromic vitreoretinopathy -MONDO:0010691 Norrie disease MONDO:0035862 Orphanet:649 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome -MONDO:0010691 Norrie disease MONDO:8000032 Orphanet:649 Orphanet:377789 obsolete malformation syndrome -MONDO:0010698 optic atrophy 2 MONDO:0018609 Orphanet:98890 Orphanet:441434 obsolete syndromic hereditary optic neuropathy -MONDO:0010698 optic atrophy 2 MONDO:0035862 Orphanet:98890 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome -MONDO:0010699 Charcot-Marie-Tooth disease X-linked recessive 5 MONDO:0018609 Orphanet:99014 Orphanet:441434 obsolete syndromic hereditary optic neuropathy -MONDO:0010702 orofaciodigital syndrome I MONDO:0019286 Orphanet:2750 Orphanet:79372 obsolete sebaceous gland anomaly -MONDO:0010702 orofaciodigital syndrome I MONDO:0019589 Orphanet:2750 Orphanet:90642 obsolete syndromic genetic hearing loss -MONDO:0010702 orofaciodigital syndrome I MONDO:0019721 Orphanet:2750 Orphanet:93547 obsolete syndromic renal or urinary tract malformation -MONDO:0010702 orofaciodigital syndrome I MONDO:0035863 Orphanet:2750 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0010702 orofaciodigital syndrome I MONDO:8000032 Orphanet:2750 Orphanet:377789 obsolete malformation syndrome -MONDO:0010703 ornithine carbamoyltransferase deficiency MONDO:0035862 Orphanet:664 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome -MONDO:0010704 otopalatodigital syndrome type 1 MONDO:0015334 Orphanet:90650 Orphanet:139036 obsolete branchial arch or oral-acral syndrome -MONDO:0010704 otopalatodigital syndrome type 1 MONDO:0015336 Orphanet:90650 Orphanet:139042 obsolete malformation syndrome with odontal and/or periodontal component -MONDO:0010704 otopalatodigital syndrome type 1 MONDO:0015501 Orphanet:90650 Orphanet:156237 obsolete syndrome or malformation associated with head and neck malformations -MONDO:0010704 otopalatodigital syndrome type 1 MONDO:0019589 Orphanet:90650 Orphanet:90642 obsolete syndromic genetic hearing loss -MONDO:0010704 otopalatodigital syndrome type 1 MONDO:0026189 Orphanet:90650 Orphanet:183576 obsolete genetic branchial arch or oral-acral syndrome -MONDO:0010704 otopalatodigital syndrome type 1 MONDO:0035863 Orphanet:90650 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0010704 otopalatodigital syndrome type 1 MONDO:8000032 Orphanet:90650 Orphanet:377789 obsolete malformation syndrome -MONDO:0010706 premature ovarian failure 1 MONDO:0034443 Orphanet:642691 Orphanet:485382 obsolete genetic non-acquired premature ovarian failure -MONDO:0010708 Pallister-W syndrome MONDO:0015335 Orphanet:2804 Orphanet:139039 obsolete Mendelian syndromes with cleft lip/palate -MONDO:0010708 Pallister-W syndrome MONDO:0020253 Orphanet:2804 Orphanet:98683 obsolete syndrome with a symptomatic strabismus -MONDO:0010708 Pallister-W syndrome MONDO:0035863 Orphanet:2804 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0010708 Pallister-W syndrome MONDO:8000032 Orphanet:2804 Orphanet:377789 obsolete malformation syndrome -MONDO:0010709 early-onset parkinsonism-intellectual disability syndrome MONDO:0017635 Orphanet:2379 Orphanet:306666 obsolete parkinsonian syndrome due to neurodegenerative disease -MONDO:0010709 early-onset parkinsonism-intellectual disability syndrome MONDO:0017661 Orphanet:2379 Orphanet:307055 obsolete rare parkinsonian syndrome due to genetic neurodegenerative disease -MONDO:0010709 early-onset parkinsonism-intellectual disability syndrome MONDO:0035862 Orphanet:2379 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome -MONDO:0010710 Pierre Robin syndrome-faciodigital anomaly syndrome MONDO:0015335 Orphanet:2888 Orphanet:139039 obsolete Mendelian syndromes with cleft lip/palate -MONDO:0010710 Pierre Robin syndrome-faciodigital anomaly syndrome MONDO:8000032 Orphanet:2888 Orphanet:377789 obsolete malformation syndrome -MONDO:0010711 TARP syndrome MONDO:0015319 Orphanet:2886 Orphanet:138044 obsolete rare disease with Pierre Robin syndrome -MONDO:0010711 TARP syndrome MONDO:0015506 Orphanet:2886 Orphanet:156532 obsolete rare syndrome with cardiac malformations -MONDO:0010711 TARP syndrome MONDO:0018187 Orphanet:2886 Orphanet:363294 obsolete hereditary syndromic Pierre Robin syndrome -MONDO:0010711 TARP syndrome MONDO:0035863 Orphanet:2886 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0010711 TARP syndrome MONDO:8000032 Orphanet:2886 Orphanet:377789 obsolete malformation syndrome -MONDO:0010713 properdin deficiency, X-linked MONDO:0018727 Orphanet:2966 Orphanet:459348 obsolete immunodeficiency due to a complement regulatory deficiency -MONDO:0010714 Pelizaeus-Merzbacher disease MONDO:0015918 Orphanet:702 Orphanet:182070 obsolete rare neurodegenerative disease -MONDO:0010714 Pelizaeus-Merzbacher disease MONDO:0018609 Orphanet:702 Orphanet:441434 obsolete syndromic hereditary optic neuropathy -MONDO:0010714 Pelizaeus-Merzbacher disease MONDO:0034961 Orphanet:702 Orphanet:519341 obsolete rare brainstem or cerebellar disorder with ophthalmic involvement as a major feature -MONDO:0010714 Pelizaeus-Merzbacher disease MONDO:0035862 Orphanet:702 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome -MONDO:0010716 X-linked lethal multiple pterygium syndrome MONDO:8000032 Orphanet:79447 Orphanet:377789 obsolete malformation syndrome -MONDO:0010717 pyruvate dehydrogenase E1-alpha deficiency MONDO:8000031 Orphanet:79243 Orphanet:557494 obsolete subtype of a disorder -MONDO:0010718 absent radius-anogenital anomalies syndrome MONDO:0017432 Orphanet:3016 Orphanet:294955 obsolete syndrome with limb reduction defects -MONDO:0010718 absent radius-anogenital anomalies syndrome MONDO:8000032 Orphanet:3016 Orphanet:377789 obsolete malformation syndrome -MONDO:0010725 X-linked retinoschisis MONDO:0020216 Orphanet:792 Orphanet:98631 obsolete secondary dysgenetic glaucoma -MONDO:0010725 X-linked retinoschisis MONDO:0020225 Orphanet:792 Orphanet:98641 obsolete syndromic cataract -MONDO:0010725 X-linked retinoschisis MONDO:8000032 Orphanet:792 Orphanet:377789 obsolete malformation syndrome -MONDO:0010726 Rett syndrome MONDO:0015680 Orphanet:778 Orphanet:168778 obsolete rare pervasive developmental disorder -MONDO:0010726 Rett syndrome MONDO:0017656 Orphanet:778 Orphanet:306765 obsolete motor stereotypies -MONDO:0010726 Rett syndrome MONDO:0035862 Orphanet:778 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome -MONDO:0010728 SCARF syndrome MONDO:0035863 Orphanet:3134 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0010728 SCARF syndrome MONDO:8000032 Orphanet:3134 Orphanet:377789 obsolete malformation syndrome -MONDO:0010729 X-linked intellectual disability, Schimke type MONDO:0035863 Orphanet:85285 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0010729 X-linked intellectual disability, Schimke type MONDO:8000032 Orphanet:85285 Orphanet:377789 obsolete malformation syndrome -MONDO:0010731 Simpson-Golabi-Behmel syndrome MONDO:0015216 Orphanet:373 Orphanet:108979 obsolete syndromic diaphragmatic or abdominal wall malformation -MONDO:0010731 Simpson-Golabi-Behmel syndrome MONDO:0015501 Orphanet:373 Orphanet:156237 obsolete syndrome or malformation associated with head and neck malformations -MONDO:0010731 Simpson-Golabi-Behmel syndrome MONDO:0015880 Orphanet:373 Orphanet:180779 obsolete syndromic diaphragmatic or thoracic malformation -MONDO:0010731 Simpson-Golabi-Behmel syndrome MONDO:0015945 Orphanet:373 Orphanet:183422 obsolete polymalformative genetic syndrome with increased risk of developing cancer -MONDO:0010731 Simpson-Golabi-Behmel syndrome MONDO:0019721 Orphanet:373 Orphanet:93547 obsolete syndromic renal or urinary tract malformation -MONDO:0010731 Simpson-Golabi-Behmel syndrome MONDO:0035863 Orphanet:373 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0010731 Simpson-Golabi-Behmel syndrome MONDO:8000032 Orphanet:373 Orphanet:377789 obsolete malformation syndrome -MONDO:0010732 spastic paraparesis-deafness syndrome MONDO:0019589 Orphanet:2815 Orphanet:90642 obsolete syndromic genetic hearing loss -MONDO:0010732 spastic paraparesis-deafness syndrome MONDO:8000032 Orphanet:2815 Orphanet:377789 obsolete malformation syndrome -MONDO:0010733 hereditary spastic paraplegia 2 MONDO:0017916 Orphanet:99015 Orphanet:320350 obsolete pure or complex X-linked spastic paraplegia -MONDO:0010733 hereditary spastic paraplegia 2 MONDO:0018609 Orphanet:99015 Orphanet:441434 obsolete syndromic hereditary optic neuropathy -MONDO:0010735 Kennedy disease MONDO:0015918 Orphanet:481 Orphanet:182070 obsolete rare neurodegenerative disease -MONDO:0010735 Kennedy disease MONDO:0016115 Orphanet:481 Orphanet:206707 obsolete bulbospinal muscular atrophy of adulthood -MONDO:0010735 Kennedy disease MONDO:0018388 Orphanet:481 Orphanet:399685 obsolete rare male infertility due to testicular endocrine disorder -MONDO:0010742 pentalogy of Cantrell MONDO:0015216 Orphanet:1335 Orphanet:108979 obsolete syndromic diaphragmatic or abdominal wall malformation -MONDO:0010742 pentalogy of Cantrell MONDO:0015880 Orphanet:1335 Orphanet:180779 obsolete syndromic diaphragmatic or thoracic malformation -MONDO:0010742 pentalogy of Cantrell MONDO:0043008 Orphanet:1335 Orphanet:330206 obsolete genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability -MONDO:0010742 pentalogy of Cantrell MONDO:8000032 Orphanet:1335 Orphanet:377789 obsolete malformation syndrome -MONDO:0010743 thrombocytopenia 1 MONDO:0017057 Orphanet:852 Orphanet:268322 obsolete hereditary thrombocytopenia with normal platelets -MONDO:0010743 thrombocytopenia 1 MONDO:8000031 Orphanet:852 Orphanet:557494 obsolete subtype of a disorder -MONDO:0010745 beta-thalassemia-X-linked thrombocytopenia syndrome MONDO:0016492 Orphanet:231393 Orphanet:231386 obsolete beta-thalassemia with other manifestations -MONDO:0010747 X-linked dystonia-parkinsonism MONDO:0017635 Orphanet:53351 Orphanet:306666 obsolete parkinsonian syndrome due to neurodegenerative disease -MONDO:0010747 X-linked dystonia-parkinsonism MONDO:0017661 Orphanet:53351 Orphanet:307055 obsolete rare parkinsonian syndrome due to genetic neurodegenerative disease -MONDO:0010747 X-linked dystonia-parkinsonism MONDO:0018329 Orphanet:53351 Orphanet:391711 obsolete persistent combined dystonia -MONDO:0010748 torticollis-keloids-cryptorchidism-renal dysplasia syndrome MONDO:0015620 Orphanet:3341 Orphanet:165707 obsolete syndromic urogenital tract malformation -MONDO:0010748 torticollis-keloids-cryptorchidism-renal dysplasia syndrome MONDO:8000032 Orphanet:3341 Orphanet:377789 obsolete malformation syndrome -MONDO:0010749 trigonocephaly-short stature-developmental delay syndrome MONDO:0035863 Orphanet:3369 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0010749 trigonocephaly-short stature-developmental delay syndrome MONDO:8000032 Orphanet:3369 Orphanet:377789 obsolete malformation syndrome -MONDO:0010750 ulnar hypoplasia-split foot syndrome MONDO:0017433 Orphanet:1122 Orphanet:294957 obsolete dysostosis with combined reduction defects of upper and lower limbs -MONDO:0010750 ulnar hypoplasia-split foot syndrome MONDO:8000032 Orphanet:1122 Orphanet:377789 obsolete malformation syndrome -MONDO:0010753 cardiac valvular dysplasia, X-linked MONDO:0018797 Orphanet:555877 Orphanet:477805 obsolete genetic cardiac malformation -MONDO:0010753 cardiac valvular dysplasia, X-linked MONDO:0020288 Orphanet:555877 Orphanet:98720 obsolete atrioventricular valve anomaly -MONDO:0010753 cardiac valvular dysplasia, X-linked MONDO:8000030 Orphanet:555877 Orphanet:377791 obsolete morphological anomaly -MONDO:0010754 van den Bosch syndrome MONDO:0019271 Orphanet:3417 Orphanet:79356 obsolete acrokeratoderma -MONDO:0010754 van den Bosch syndrome MONDO:0026151 Orphanet:3417 Orphanet:183441 obsolete genetic acrokeratoderma -MONDO:0010754 van den Bosch syndrome MONDO:0035863 Orphanet:3417 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0010754 van den Bosch syndrome MONDO:8000032 Orphanet:3417 Orphanet:377789 obsolete malformation syndrome -MONDO:0010758 Wieacker-Wolff syndrome MONDO:0020253 Orphanet:85283 Orphanet:98683 obsolete syndrome with a symptomatic strabismus -MONDO:0010758 Wieacker-Wolff syndrome MONDO:0035863 Orphanet:3454 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0010758 Wieacker-Wolff syndrome MONDO:0035863 Orphanet:85283 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0010758 Wieacker-Wolff syndrome MONDO:8000032 Orphanet:3454 Orphanet:377789 obsolete malformation syndrome -MONDO:0010758 Wieacker-Wolff syndrome MONDO:8000032 Orphanet:85283 Orphanet:377789 obsolete malformation syndrome -MONDO:0010759 Wildervanck syndrome MONDO:0015334 Orphanet:3456 Orphanet:139036 obsolete branchial arch or oral-acral syndrome -MONDO:0010759 Wildervanck syndrome MONDO:0019711 Orphanet:3456 Orphanet:93454 obsolete dysostosis with predominant vertebral and costal involvement -MONDO:0010759 Wildervanck syndrome MONDO:0026189 Orphanet:3456 Orphanet:183576 obsolete genetic branchial arch or oral-acral syndrome -MONDO:0010759 Wildervanck syndrome MONDO:8000032 Orphanet:3456 Orphanet:377789 obsolete malformation syndrome -MONDO:0010765 46,XY complete gonadal dysgenesis MONDO:0017966 Orphanet:242 Orphanet:325118 obsolete 46,XY disorder of gonadal development -MONDO:0010765 46,XY complete gonadal dysgenesis MONDO:0020038 Orphanet:242 Orphanet:98074 obsolete gonadal dysgenesis of gynecological interest -MONDO:0010765 46,XY complete gonadal dysgenesis MONDO:0026989 Orphanet:242 Orphanet:217595 obsolete syndrome associated with hypertrophic cardiomyopathy -MONDO:0010765 46,XY complete gonadal dysgenesis MONDO:8000032 Orphanet:242 Orphanet:377789 obsolete malformation syndrome -MONDO:0010771 histiocytoid cardiomyopathy MONDO:0015110 Orphanet:137675 Orphanet:101934 obsolete genetic cardiac rhythm disease -MONDO:0010771 histiocytoid cardiomyopathy MONDO:0016335 Orphanet:137675 Orphanet:217613 obsolete mitochondrial disease with dilated cardiomyopathy -MONDO:0010771 histiocytoid cardiomyopathy MONDO:0016803 Orphanet:137675 Orphanet:254837 obsolete unspecified inborn mitochondrial disorder -MONDO:0010773 mitochondrial myopathy with diabetes MONDO:0015888 Orphanet:2596 Orphanet:181381 obsolete other rare diabetes mellitus -MONDO:0010773 mitochondrial myopathy with diabetes MONDO:0016117 Orphanet:2596 Orphanet:206953 obsolete muscular lipidosis -MONDO:0010773 mitochondrial myopathy with diabetes MONDO:0016794 Orphanet:2596 Orphanet:254788 obsolete maternally-inherited mitochondrial myopathy -MONDO:0010779 mitochondrial non-syndromic sensorineural hearing loss MONDO:0016793 Orphanet:90641 Orphanet:254776 obsolete mitochondrial oxidative phosphorylation disorder due to a point mutation of mitochondrial DNA -MONDO:0010779 mitochondrial non-syndromic sensorineural hearing loss MONDO:8000031 Orphanet:90641 Orphanet:557494 obsolete subtype of a disorder -MONDO:0010780 mitochondrial myopathy with reversible cytochrome C oxidase deficiency MONDO:0016794 Orphanet:254864 Orphanet:254788 obsolete maternally-inherited mitochondrial myopathy -MONDO:0010785 maternally-inherited diabetes and deafness MONDO:0015888 Orphanet:225 Orphanet:181381 obsolete other rare diabetes mellitus -MONDO:0010785 maternally-inherited diabetes and deafness MONDO:0016793 Orphanet:225 Orphanet:254776 obsolete mitochondrial oxidative phosphorylation disorder due to a point mutation of mitochondrial DNA -MONDO:0010785 maternally-inherited diabetes and deafness MONDO:0019589 Orphanet:225 Orphanet:90642 obsolete syndromic genetic hearing loss -MONDO:0010785 maternally-inherited diabetes and deafness MONDO:0034953 Orphanet:225 Orphanet:519325 obsolete syndromic inherited retinal disorder -MONDO:0010786 chronic diarrhea with villous atrophy MONDO:0016792 Orphanet:1670 Orphanet:254767 obsolete mitochondrial oxidative phosphorylation disorder due to a large-scale single deletion of mitochondrial DNA -MONDO:0010786 chronic diarrhea with villous atrophy MONDO:0019126 Orphanet:1670 Orphanet:73014 obsolete intractable diarrhea of infancy -MONDO:0010786 chronic diarrhea with villous atrophy MONDO:0031697 Orphanet:1670 Orphanet:363300 obsolete genetic intractable diarrhea of infancy -MONDO:0010787 Kearns-Sayre syndrome MONDO:0015895 Orphanet:480 Orphanet:181402 obsolete syndrome with hypoparathyroidism -MONDO:0010787 Kearns-Sayre syndrome MONDO:0016335 Orphanet:480 Orphanet:217613 obsolete mitochondrial disease with dilated cardiomyopathy -MONDO:0010787 Kearns-Sayre syndrome MONDO:0016402 Orphanet:480 Orphanet:225700 obsolete mitochondrial disease with epilepsy -MONDO:0010787 Kearns-Sayre syndrome MONDO:0016403 Orphanet:480 Orphanet:225703 obsolete mitochondrial disease with peripheral neuropathy -MONDO:0010787 Kearns-Sayre syndrome MONDO:0016792 Orphanet:480 Orphanet:254767 obsolete mitochondrial oxidative phosphorylation disorder due to a large-scale single deletion of mitochondrial DNA -MONDO:0010787 Kearns-Sayre syndrome MONDO:0019058 Orphanet:480 Orphanet:68385 obsolete neurometabolic disease -MONDO:0010787 Kearns-Sayre syndrome MONDO:0019589 Orphanet:480 Orphanet:90642 obsolete syndromic genetic hearing loss -MONDO:0010787 Kearns-Sayre syndrome MONDO:0020240 Orphanet:480 Orphanet:98661 obsolete syndromic retinitis pigmentosa -MONDO:0010788 Leber hereditary optic neuropathy MONDO:0016327 Orphanet:104 Orphanet:217587 obsolete mitochondrial disease with hypertrophic cardiomyopathy -MONDO:0010788 Leber hereditary optic neuropathy MONDO:0016335 Orphanet:104 Orphanet:217613 obsolete mitochondrial disease with dilated cardiomyopathy -MONDO:0010788 Leber hereditary optic neuropathy MONDO:0016793 Orphanet:104 Orphanet:254776 obsolete mitochondrial oxidative phosphorylation disorder due to a point mutation of mitochondrial DNA -MONDO:0010789 MELAS syndrome MONDO:0016327 Orphanet:550 Orphanet:217587 obsolete mitochondrial disease with hypertrophic cardiomyopathy -MONDO:0010789 MELAS syndrome MONDO:0016335 Orphanet:550 Orphanet:217613 obsolete mitochondrial disease with dilated cardiomyopathy -MONDO:0010789 MELAS syndrome MONDO:0016402 Orphanet:550 Orphanet:225700 obsolete mitochondrial disease with epilepsy -MONDO:0010789 MELAS syndrome MONDO:0016403 Orphanet:550 Orphanet:225703 obsolete mitochondrial disease with peripheral neuropathy -MONDO:0010789 MELAS syndrome MONDO:0016793 Orphanet:550 Orphanet:254776 obsolete mitochondrial oxidative phosphorylation disorder due to a point mutation of mitochondrial DNA -MONDO:0010789 MELAS syndrome MONDO:0019058 Orphanet:550 Orphanet:68385 obsolete neurometabolic disease -MONDO:0010789 MELAS syndrome MONDO:0019589 Orphanet:550 Orphanet:90642 obsolete syndromic genetic hearing loss -MONDO:0010789 MELAS syndrome MONDO:0034962 Orphanet:550 Orphanet:519343 obsolete rare ophthalmic disorder with cortical involvement -MONDO:0010789 MELAS syndrome MONDO:0035862 Orphanet:550 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome -MONDO:0010790 MERRF syndrome MONDO:0016327 Orphanet:551 Orphanet:217587 obsolete mitochondrial disease with hypertrophic cardiomyopathy -MONDO:0010790 MERRF syndrome MONDO:0016335 Orphanet:551 Orphanet:217613 obsolete mitochondrial disease with dilated cardiomyopathy -MONDO:0010790 MERRF syndrome MONDO:0016402 Orphanet:551 Orphanet:225700 obsolete mitochondrial disease with epilepsy -MONDO:0010790 MERRF syndrome MONDO:0016403 Orphanet:551 Orphanet:225703 obsolete mitochondrial disease with peripheral neuropathy -MONDO:0010790 MERRF syndrome MONDO:0016793 Orphanet:551 Orphanet:254776 obsolete mitochondrial oxidative phosphorylation disorder due to a point mutation of mitochondrial DNA -MONDO:0010790 MERRF syndrome MONDO:0018609 Orphanet:551 Orphanet:441434 obsolete syndromic hereditary optic neuropathy -MONDO:0010790 MERRF syndrome MONDO:0019058 Orphanet:551 Orphanet:68385 obsolete neurometabolic disease -MONDO:0010792 lethal infantile mitochondrial myopathy MONDO:0016794 Orphanet:254857 Orphanet:254788 obsolete maternally-inherited mitochondrial myopathy -MONDO:0010794 NARP syndrome MONDO:0016402 Orphanet:644 Orphanet:225700 obsolete mitochondrial disease with epilepsy -MONDO:0010794 NARP syndrome MONDO:0016403 Orphanet:644 Orphanet:225703 obsolete mitochondrial disease with peripheral neuropathy -MONDO:0010794 NARP syndrome MONDO:0016793 Orphanet:644 Orphanet:254776 obsolete mitochondrial oxidative phosphorylation disorder due to a point mutation of mitochondrial DNA -MONDO:0010794 NARP syndrome MONDO:0019058 Orphanet:644 Orphanet:68385 obsolete neurometabolic disease -MONDO:0010794 NARP syndrome MONDO:0020240 Orphanet:644 Orphanet:98661 obsolete syndromic retinitis pigmentosa -MONDO:0010794 NARP syndrome MONDO:0035862 Orphanet:644 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome -MONDO:0010797 Pearson syndrome MONDO:0015188 Orphanet:699 Orphanet:104013 obsolete metabolic disorder with intestinal involvement -MONDO:0010797 Pearson syndrome MONDO:0015895 Orphanet:699 Orphanet:181402 obsolete syndrome with hypoparathyroidism -MONDO:0010797 Pearson syndrome MONDO:0016792 Orphanet:699 Orphanet:254767 obsolete mitochondrial oxidative phosphorylation disorder due to a large-scale single deletion of mitochondrial DNA -MONDO:0010797 Pearson syndrome MONDO:0018032 Orphanet:699 Orphanet:331184 obsolete constitutional neutropenia with extra-hematopoietic manifestations -MONDO:0010801 spondylocamptodactyly syndrome MONDO:8000032 Orphanet:3180 Orphanet:377789 obsolete malformation syndrome -MONDO:0010802 pancreatic hypoplasia-diabetes-congenital heart disease syndrome MONDO:0015888 Orphanet:2255 Orphanet:181381 obsolete other rare diabetes mellitus -MONDO:0010802 pancreatic hypoplasia-diabetes-congenital heart disease syndrome MONDO:0035862 Orphanet:2255 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome -MONDO:0010803 Eiken syndrome MONDO:0019693 Orphanet:79106 Orphanet:93430 obsolete multiple metaphyseal dysplasia -MONDO:0010803 Eiken syndrome MONDO:0019705 Orphanet:79106 Orphanet:93447 obsolete primary bone dysplasia with defective bone mineralization -MONDO:0010803 Eiken syndrome MONDO:8000032 Orphanet:79106 Orphanet:377789 obsolete malformation syndrome -MONDO:0010805 bladder exstrophy MONDO:8000031 Orphanet:93930 Orphanet:557494 obsolete subtype of a disorder -MONDO:0010808 fatal familial insomnia MONDO:0017234 Orphanet:466 Orphanet:280400 obsolete inherited prion disease -MONDO:0010814 chondrodysplasia-pseudohermaphroditism syndrome MONDO:0017978 Orphanet:1422 Orphanet:325638 obsolete syndrome with disorder of sex development of gynecological interest -MONDO:0010814 chondrodysplasia-pseudohermaphroditism syndrome MONDO:0018232 Orphanet:1422 Orphanet:364536 obsolete primary bone dysplasia with micromelia -MONDO:0010814 chondrodysplasia-pseudohermaphroditism syndrome MONDO:0020042 Orphanet:1422 Orphanet:98087 obsolete syndrome with 46,XY disorder of sex development -MONDO:0010814 chondrodysplasia-pseudohermaphroditism syndrome MONDO:8000032 Orphanet:1422 Orphanet:377789 obsolete malformation syndrome -MONDO:0010816 Qazi Markouizos syndrome MONDO:0020253 Orphanet:3010 Orphanet:98683 obsolete syndrome with a symptomatic strabismus -MONDO:0010816 Qazi Markouizos syndrome MONDO:0035863 Orphanet:3010 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0010821 familial developmental dysphasia MONDO:0032013 Orphanet:1799 Orphanet:377792 obsolete clinical syndrome -MONDO:0010823 rhizomelic chondrodysplasia punctata type 3 MONDO:8000031 Orphanet:309803 Orphanet:557494 obsolete subtype of a disorder -MONDO:0010824 disorder of sex development-intellectual disability syndrome MONDO:0017978 Orphanet:2983 Orphanet:325638 obsolete syndrome with disorder of sex development of gynecological interest -MONDO:0010824 disorder of sex development-intellectual disability syndrome MONDO:0020042 Orphanet:2983 Orphanet:98087 obsolete syndrome with 46,XY disorder of sex development -MONDO:0010824 disorder of sex development-intellectual disability syndrome MONDO:0035863 Orphanet:2983 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0010825 atrioventricular defect-blepharophimosis-radial and anal defect syndrome MONDO:0015506 Orphanet:1352 Orphanet:156532 obsolete rare syndrome with cardiac malformations -MONDO:0010825 atrioventricular defect-blepharophimosis-radial and anal defect syndrome MONDO:0020169 Orphanet:1352 Orphanet:98578 obsolete rare disorder with ptosis -MONDO:0010825 atrioventricular defect-blepharophimosis-radial and anal defect syndrome MONDO:0043008 Orphanet:1352 Orphanet:330206 obsolete genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability -MONDO:0010825 atrioventricular defect-blepharophimosis-radial and anal defect syndrome MONDO:8000032 Orphanet:1352 Orphanet:377789 obsolete malformation syndrome -MONDO:0010829 CARASIL syndrome MONDO:0018831 Orphanet:199354 Orphanet:482072 obsolete HTRA1-related cerebral small vessel disease -MONDO:0010830 neuronal ceroid lipofuscinosis 8 MONDO:8000031 Orphanet:228354 Orphanet:557494 obsolete subtype of a disorder -MONDO:0010831 familial caudal dysgenesis MONDO:0017120 Orphanet:1768 Orphanet:269531 obsolete other syndrome with a central nervous system malformation as major feature -MONDO:0010831 familial caudal dysgenesis MONDO:8000032 Orphanet:1768 Orphanet:377789 obsolete malformation syndrome -MONDO:0010835 pterygium colli-intellectual disability-digital anomalies syndrome MONDO:0035863 Orphanet:2988 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0010835 pterygium colli-intellectual disability-digital anomalies syndrome MONDO:8000032 Orphanet:2988 Orphanet:377789 obsolete malformation syndrome -MONDO:0010840 pachygyria-intellectual disability-epilepsy syndrome MONDO:0015572 Orphanet:2798 Orphanet:163209 obsolete cerebral malformation due to abnormal neuronal migration -MONDO:0010840 pachygyria-intellectual disability-epilepsy syndrome MONDO:0035863 Orphanet:2798 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0010840 pachygyria-intellectual disability-epilepsy syndrome MONDO:8000032 Orphanet:2798 Orphanet:377789 obsolete malformation syndrome -MONDO:0010842 multiple cutaneous and mucosal venous malformations MONDO:0016232 Orphanet:2451 Orphanet:211252 obsolete rare venous malformation -MONDO:0010842 multiple cutaneous and mucosal venous malformations MONDO:0018730 Orphanet:2451 Orphanet:459548 obsolete rare genetic venous malformation -MONDO:0010842 multiple cutaneous and mucosal venous malformations MONDO:8000032 Orphanet:2451 Orphanet:377789 obsolete malformation syndrome -MONDO:0010849 palmoplantar keratoderma, Bothnian type MONDO:0020093 Orphanet:2337 Orphanet:98349 obsolete autosomal dominant isolated diffuse palmoplantar keratoderma -MONDO:0010850 Tessier number 4 facial cleft MONDO:0015415 Orphanet:141258 Orphanet:141253 obsolete oblique facial cleft -MONDO:0010850 Tessier number 4 facial cleft MONDO:0033056 Orphanet:141258 Orphanet:414726 obsolete genetic facial cleft -MONDO:0010850 Tessier number 4 facial cleft MONDO:8000030 Orphanet:141258 Orphanet:377791 obsolete morphological anomaly -MONDO:0010851 Lowry-MacLean syndrome MONDO:0020222 Orphanet:2409 Orphanet:98638 obsolete rare disease with glaucoma as a major feature -MONDO:0010851 Lowry-MacLean syndrome MONDO:0035863 Orphanet:2409 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0010851 Lowry-MacLean syndrome MONDO:8000032 Orphanet:2409 Orphanet:377789 obsolete malformation syndrome -MONDO:0010854 Toriello-Lacassie-Droste syndrome MONDO:8000032 Orphanet:3339 Orphanet:377789 obsolete malformation syndrome -MONDO:0010855 short tarsus-absence of lower eyelashes syndrome MONDO:0043008 Orphanet:2832 Orphanet:330206 obsolete genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability -MONDO:0010855 short tarsus-absence of lower eyelashes syndrome MONDO:8000032 Orphanet:2832 Orphanet:377789 obsolete malformation syndrome -MONDO:0010856 autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis MONDO:0022409 Orphanet:88924 Orphanet:156162 obsolete nephropathy-associated ciliopathy -MONDO:0010858 macrocephaly-spastic paraplegia-dysmorphism syndrome MONDO:0017915 Orphanet:2429 Orphanet:320346 obsolete pure or complex autosomal recessive spastic paraplegia -MONDO:0010858 macrocephaly-spastic paraplegia-dysmorphism syndrome MONDO:0035863 Orphanet:2429 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0010858 macrocephaly-spastic paraplegia-dysmorphism syndrome MONDO:8000032 Orphanet:2429 Orphanet:377789 obsolete malformation syndrome -MONDO:0010865 pseudoaminopterin syndrome MONDO:0035863 Orphanet:221120 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0010865 pseudoaminopterin syndrome MONDO:8000032 Orphanet:221120 Orphanet:377789 obsolete malformation syndrome -MONDO:0010866 infantile osteopetrosis with neuroaxonal dysplasia MONDO:8000032 Orphanet:85179 Orphanet:377789 obsolete malformation syndrome -MONDO:0010867 PARC syndrome MONDO:0015335 Orphanet:2825 Orphanet:139039 obsolete Mendelian syndromes with cleft lip/palate -MONDO:0010867 PARC syndrome MONDO:0043008 Orphanet:2825 Orphanet:330206 obsolete genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability -MONDO:0010867 PARC syndrome MONDO:8000032 Orphanet:2825 Orphanet:377789 obsolete malformation syndrome -MONDO:0010877 Charcot-Marie-Tooth disease type 5 MONDO:0015360 Orphanet:64751 Orphanet:140456 obsolete autosomal dominant hereditary axonal motor and sensory neuropathy -MONDO:0010878 hereditary spastic paraplegia 6 MONDO:0017914 Orphanet:100988 Orphanet:320342 obsolete pure or complex autosomal dominant spastic paraplegia -MONDO:0010879 CODAS syndrome MONDO:0020225 Orphanet:1458 Orphanet:98641 obsolete syndromic cataract -MONDO:0010879 CODAS syndrome MONDO:0035863 Orphanet:1458 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0010879 CODAS syndrome MONDO:0043008 Orphanet:1458 Orphanet:330206 obsolete genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability -MONDO:0010879 CODAS syndrome MONDO:8000032 Orphanet:1458 Orphanet:377789 obsolete malformation syndrome -MONDO:0010881 mesomelia-synostoses syndrome MONDO:8000032 Orphanet:2496 Orphanet:377789 obsolete malformation syndrome -MONDO:0010882 aphalangy-syndactyly-microcephaly syndrome MONDO:0017432 Orphanet:1113 Orphanet:294955 obsolete syndrome with limb reduction defects -MONDO:0010882 aphalangy-syndactyly-microcephaly syndrome MONDO:0017434 Orphanet:1113 Orphanet:294959 obsolete syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy -MONDO:0010882 aphalangy-syndactyly-microcephaly syndrome MONDO:8000032 Orphanet:1113 Orphanet:377789 obsolete malformation syndrome -MONDO:0010883 pectus excavatum-macrocephaly-dysplastic nails syndrome MONDO:0019285 Orphanet:2835 Orphanet:79370 obsolete syndromic nail anomaly -MONDO:0010883 pectus excavatum-macrocephaly-dysplastic nails syndrome MONDO:0043008 Orphanet:2835 Orphanet:330206 obsolete genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability -MONDO:0010883 pectus excavatum-macrocephaly-dysplastic nails syndrome MONDO:8000032 Orphanet:2835 Orphanet:377789 obsolete malformation syndrome -MONDO:0010886 2q37 microdeletion syndrome MONDO:0035863 Orphanet:1001 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0010886 2q37 microdeletion syndrome MONDO:0800094 Orphanet:1001 Orphanet:498454 obsolete dysostosis with brachydactyly with extraskeletal manifestations -MONDO:0010886 2q37 microdeletion syndrome MONDO:8000032 Orphanet:1001 Orphanet:377789 obsolete malformation syndrome -MONDO:0010889 arterial dissection-lentiginosis syndrome MONDO:0024471 Orphanet:1682 Orphanet:496924 obsolete non-inflammatory vasculopathy -MONDO:0010889 arterial dissection-lentiginosis syndrome MONDO:8000032 Orphanet:1682 Orphanet:377789 obsolete malformation syndrome -MONDO:0010890 acrocardiofacial syndrome MONDO:0015335 Orphanet:2008 Orphanet:139039 obsolete Mendelian syndromes with cleft lip/palate -MONDO:0010890 acrocardiofacial syndrome MONDO:0035863 Orphanet:2008 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0010890 acrocardiofacial syndrome MONDO:8000032 Orphanet:2008 Orphanet:377789 obsolete malformation syndrome -MONDO:0010891 lethal hemolytic anemia-genital anomalies syndrome MONDO:0015620 Orphanet:1046 Orphanet:165707 obsolete syndromic urogenital tract malformation -MONDO:0010891 lethal hemolytic anemia-genital anomalies syndrome MONDO:0015910 Orphanet:1046 Orphanet:182043 obsolete rare constitutional hemolytic anemia -MONDO:0010891 lethal hemolytic anemia-genital anomalies syndrome MONDO:8000032 Orphanet:1046 Orphanet:377789 obsolete malformation syndrome -MONDO:0010901 HEC syndrome MONDO:0017952 Orphanet:2119 Orphanet:324767 obsolete non-familial rare disease with dilated cardiomyopathy -MONDO:0010901 HEC syndrome MONDO:8000032 Orphanet:2119 Orphanet:377789 obsolete malformation syndrome -MONDO:0010908 loose anagen syndrome MONDO:0021034 Orphanet:168 Orphanet:481771 obsolete hereditary alopecia -MONDO:0010911 prolactin-producing pituitary gland adenoma MONDO:0018386 Orphanet:2965 Orphanet:399572 obsolete rare male infertility due to hypothalamic-pituitary-gonadal axis disorder -MONDO:0010911 prolactin-producing pituitary gland adenoma MONDO:0018397 Orphanet:2965 Orphanet:399831 obsolete female infertility due to hypothalamic-pituitary-gonadal axis disorder -MONDO:0010913 Caroli disease MONDO:0015116 Orphanet:53035 Orphanet:101941 obsolete rare biliary tract disease -MONDO:0010913 Caroli disease MONDO:0015213 Orphanet:53035 Orphanet:108971 obsolete non-syndromic visceral malformation -MONDO:0010913 Caroli disease MONDO:0015509 Orphanet:53035 Orphanet:156607 obsolete hereditary biliary tract disease -MONDO:0010913 Caroli disease MONDO:8000032 Orphanet:53035 Orphanet:377789 obsolete malformation syndrome -MONDO:0010914 carnitine palmitoyl transferase II deficiency, severe infantile form MONDO:8000031 Orphanet:228305 Orphanet:557494 obsolete subtype of a disorder -MONDO:0010920 microtia MONDO:0015502 Orphanet:83463 Orphanet:156243 obsolete pinnae and external auditory canal anomaly -MONDO:0010920 microtia MONDO:8000030 Orphanet:83463 Orphanet:377791 obsolete morphological anomaly -MONDO:0010921 nasal dermoid cyst MONDO:8000030 Orphanet:141103 Orphanet:377791 obsolete morphological anomaly -MONDO:0010922 Satoyoshi syndrome MONDO:0015245 Orphanet:3130 Orphanet:117569 obsolete rare intestinal disease -MONDO:0010922 Satoyoshi syndrome MONDO:0015939 Orphanet:3130 Orphanet:182228 obsolete systemic autoimmune disease -MONDO:0010923 proximal myopathy with focal depletion of mitochondria MONDO:0016110 Orphanet:521305 Orphanet:206656 obsolete non-dystrophic myopathy -MONDO:0010925 velo-facial-skeletal syndrome MONDO:0015335 Orphanet:3424 Orphanet:139039 obsolete Mendelian syndromes with cleft lip/palate -MONDO:0010925 velo-facial-skeletal syndrome MONDO:0043008 Orphanet:3424 Orphanet:330206 obsolete genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability -MONDO:0010925 velo-facial-skeletal syndrome MONDO:8000032 Orphanet:3424 Orphanet:377789 obsolete malformation syndrome -MONDO:0010926 familial hypocalciuric hypercalcemia 3 MONDO:8000031 Orphanet:101050 Orphanet:557494 obsolete subtype of a disorder -MONDO:0010930 anophthalmia plus syndrome MONDO:0043008 Orphanet:1104 Orphanet:330206 obsolete genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability -MONDO:0010930 anophthalmia plus syndrome MONDO:8000032 Orphanet:1104 Orphanet:377789 obsolete malformation syndrome -MONDO:0010939 low phospholipid associated cholelithiasis MONDO:0015116 Orphanet:69663 Orphanet:101941 obsolete rare biliary tract disease -MONDO:0010939 low phospholipid associated cholelithiasis MONDO:0015509 Orphanet:69663 Orphanet:156607 obsolete hereditary biliary tract disease -MONDO:0010947 Budd-Chiari syndrome MONDO:0015113 Orphanet:131 Orphanet:101938 obsolete rare vascular liver disease -MONDO:0010952 hereditary hyperferritinemia with congenital cataracts MONDO:0020225 Orphanet:163 Orphanet:98641 obsolete syndromic cataract -MONDO:0010959 van den Ende-Gupta syndrome MONDO:0015501 Orphanet:2460 Orphanet:156237 obsolete syndrome or malformation associated with head and neck malformations -MONDO:0010959 van den Ende-Gupta syndrome MONDO:0043008 Orphanet:2460 Orphanet:330206 obsolete genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability -MONDO:0010959 van den Ende-Gupta syndrome MONDO:8000032 Orphanet:2460 Orphanet:377789 obsolete malformation syndrome -MONDO:0010961 obesity due to prohormone convertase I deficiency MONDO:0015825 Orphanet:71528 Orphanet:179490 obsolete obesity due to congenital leptin resistance -MONDO:0010961 obesity due to prohormone convertase I deficiency MONDO:0015891 Orphanet:71528 Orphanet:181390 obsolete hypogonadotropic hypogonadism associated with other endocrinopathies -MONDO:0010962 diffuse nonepidermolytic palmoplantar keratoderma MONDO:0020093 Orphanet:530838 Orphanet:98349 obsolete autosomal dominant isolated diffuse palmoplantar keratoderma -MONDO:0010966 achondrogenesis type IB MONDO:0019688 Orphanet:93298 Orphanet:93423 obsolete sulfation-related bone disorder -MONDO:0010966 achondrogenesis type IB MONDO:8000031 Orphanet:93298 Orphanet:557494 obsolete subtype of a disorder -MONDO:0010972 hydrocephalus-costovertebral dysplasia-Sprengel anomaly syndrome MONDO:0035863 Orphanet:2180 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0010972 hydrocephalus-costovertebral dysplasia-Sprengel anomaly syndrome MONDO:8000032 Orphanet:2180 Orphanet:377789 obsolete malformation syndrome -MONDO:0010976 epidermolysis bullosa simplex 1D, generalized, intermediate or severe, autosomal recessive MONDO:0035684 Orphanet:89838 Orphanet:595346 obsolete epidermolysis bullosa simplex without extracutaneous involvement -MONDO:0010977 Brody myopathy MONDO:0016110 Orphanet:53347 Orphanet:206656 obsolete non-dystrophic myopathy -MONDO:0010979 Timothy syndrome MONDO:0015878 Orphanet:65283 Orphanet:180772 obsolete rare disease with autism -MONDO:0010979 Timothy syndrome MONDO:0035862 Orphanet:65283 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome -MONDO:0010979 Timothy syndrome MONDO:8000032 Orphanet:65283 Orphanet:377789 obsolete malformation syndrome -MONDO:0010981 absent tibia-polydactyly-arachnoid cyst syndrome MONDO:0017432 Orphanet:3328 Orphanet:294955 obsolete syndrome with limb reduction defects -MONDO:0010981 absent tibia-polydactyly-arachnoid cyst syndrome MONDO:0017434 Orphanet:3328 Orphanet:294959 obsolete syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy -MONDO:0010981 absent tibia-polydactyly-arachnoid cyst syndrome MONDO:0043008 Orphanet:3328 Orphanet:330206 obsolete genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability -MONDO:0010981 absent tibia-polydactyly-arachnoid cyst syndrome MONDO:8000032 Orphanet:3328 Orphanet:377789 obsolete malformation syndrome -MONDO:0010988 aplasia cutis-myopia syndrome MONDO:0015331 Orphanet:1117 Orphanet:139027 obsolete malformation syndrome with skin/mucosae involvement -MONDO:0010988 aplasia cutis-myopia syndrome MONDO:0034953 Orphanet:1117 Orphanet:519325 obsolete syndromic inherited retinal disorder -MONDO:0010988 aplasia cutis-myopia syndrome MONDO:0957001 Orphanet:1117 Orphanet:183481 obsolete hereditary mixed dermis disorder -MONDO:0010989 Mayer-Rokitansky-Küster-Hauser syndrome type 2 MONDO:0015246 Orphanet:2578 Orphanet:117573 obsolete syndromic anorectal malformation -MONDO:0010989 Mayer-Rokitansky-Küster-Hauser syndrome type 2 MONDO:8000031 Orphanet:2578 Orphanet:557494 obsolete subtype of a disorder -MONDO:0010993 Harrod syndrome MONDO:0020225 Orphanet:2115 Orphanet:98641 obsolete syndromic cataract -MONDO:0010993 Harrod syndrome MONDO:0035863 Orphanet:2115 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0010993 Harrod syndrome MONDO:8000032 Orphanet:2115 Orphanet:377789 obsolete malformation syndrome -MONDO:0010997 supranuclear palsy, progressive, 1 MONDO:8000031 Orphanet:240071 Orphanet:557494 obsolete subtype of a disorder -MONDO:0010998 ALG3-congenital disorder of glycosylation MONDO:0018287 Orphanet:79321 Orphanet:371071 obsolete congenital disorder of glycosylation with epilepsy as a major feature -MONDO:0010998 ALG3-congenital disorder of glycosylation MONDO:0035862 Orphanet:79321 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome -MONDO:0010999 fallot complex-intellectual disability-growth delay syndrome MONDO:0035863 Orphanet:3304 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0010999 fallot complex-intellectual disability-growth delay syndrome MONDO:8000032 Orphanet:3304 Orphanet:377789 obsolete malformation syndrome -MONDO:0011004 lissencephaly type 3-metacarpal bone dysplasia syndrome MONDO:8000032 Orphanet:86822 Orphanet:377789 obsolete malformation syndrome -MONDO:0011006 hereditary spastic paraplegia 9A MONDO:0020225 Orphanet:447753 Orphanet:98641 obsolete syndromic cataract -MONDO:0011007 diaphragmatic defect-limb deficiency-skull defect syndrome MONDO:0015216 Orphanet:2141 Orphanet:108979 obsolete syndromic diaphragmatic or abdominal wall malformation -MONDO:0011007 diaphragmatic defect-limb deficiency-skull defect syndrome MONDO:0015880 Orphanet:2141 Orphanet:180779 obsolete syndromic diaphragmatic or thoracic malformation -MONDO:0011007 diaphragmatic defect-limb deficiency-skull defect syndrome MONDO:0043008 Orphanet:2141 Orphanet:330206 obsolete genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability -MONDO:0011007 diaphragmatic defect-limb deficiency-skull defect syndrome MONDO:8000032 Orphanet:2141 Orphanet:377789 obsolete malformation syndrome -MONDO:0011008 cleft lip/palate-intestinal malrotation-cardiopathy syndrome MONDO:0015335 Orphanet:2001 Orphanet:139039 obsolete Mendelian syndromes with cleft lip/palate -MONDO:0011008 cleft lip/palate-intestinal malrotation-cardiopathy syndrome MONDO:0043008 Orphanet:2001 Orphanet:330206 obsolete genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability -MONDO:0011008 cleft lip/palate-intestinal malrotation-cardiopathy syndrome MONDO:8000032 Orphanet:2001 Orphanet:377789 obsolete malformation syndrome -MONDO:0011010 Matthew-Wood syndrome MONDO:0015216 Orphanet:2470 Orphanet:108979 obsolete syndromic diaphragmatic or abdominal wall malformation -MONDO:0011010 Matthew-Wood syndrome MONDO:0015221 Orphanet:2470 Orphanet:108993 obsolete non-syndromic respiratory or mediastinal malformation -MONDO:0011010 Matthew-Wood syndrome MONDO:0015222 Orphanet:2470 Orphanet:108995 obsolete syndromic respiratory or mediastinal malformation -MONDO:0011010 Matthew-Wood syndrome MONDO:0015880 Orphanet:2470 Orphanet:180779 obsolete syndromic diaphragmatic or thoracic malformation -MONDO:0011010 Matthew-Wood syndrome MONDO:0015930 Orphanet:2470 Orphanet:182111 obsolete respiratory malformation -MONDO:0011010 Matthew-Wood syndrome MONDO:0026203 Orphanet:2470 Orphanet:183622 obsolete genetic respiratory malformation -MONDO:0011010 Matthew-Wood syndrome MONDO:0035863 Orphanet:2470 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0011010 Matthew-Wood syndrome MONDO:0043008 Orphanet:2470 Orphanet:330206 obsolete genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability -MONDO:0011010 Matthew-Wood syndrome MONDO:8000032 Orphanet:2470 Orphanet:377789 obsolete malformation syndrome -MONDO:0011011 skeletal dysplasia-epilepsy-short stature syndrome MONDO:0035863 Orphanet:1858 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0011011 skeletal dysplasia-epilepsy-short stature syndrome MONDO:0800094 Orphanet:1858 Orphanet:498454 obsolete dysostosis with brachydactyly with extraskeletal manifestations -MONDO:0011011 skeletal dysplasia-epilepsy-short stature syndrome MONDO:8000032 Orphanet:1858 Orphanet:377789 obsolete malformation syndrome -MONDO:0011012 African iron overload MONDO:0015115 Orphanet:139507 Orphanet:101940 obsolete rare genetic metabolic liver disease -MONDO:0011014 pleuropulmonary blastoma MONDO:0015119 Orphanet:64742 Orphanet:101945 obsolete bronchopulmonary tumor -MONDO:0011017 Naxos disease MONDO:0017671 Orphanet:34217 Orphanet:307804 obsolete autosomal recessive disease with diffuse palmoplantar keratoderma as a major feature -MONDO:0011017 Naxos disease MONDO:0018558 Orphanet:34217 Orphanet:434809 obsolete syndrome with wooly hair -MONDO:0011018 brachyolmia-amelogenesis imperfecta syndrome MONDO:0015336 Orphanet:2899 Orphanet:139042 obsolete malformation syndrome with odontal and/or periodontal component -MONDO:0011018 brachyolmia-amelogenesis imperfecta syndrome MONDO:0026190 Orphanet:2899 Orphanet:183580 obsolete genetic malformation syndrome with odontal and/or periodontal component -MONDO:0011018 brachyolmia-amelogenesis imperfecta syndrome MONDO:8000032 Orphanet:2899 Orphanet:377789 obsolete malformation syndrome -MONDO:0011019 alopecia-intellectual disability-hypergonadotropic hypogonadism syndrome MONDO:0021034 Orphanet:1014 Orphanet:481771 obsolete hereditary alopecia -MONDO:0011019 alopecia-intellectual disability-hypergonadotropic hypogonadism syndrome MONDO:0035863 Orphanet:1014 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0011020 osteoporosis-oculocutaneous hypopigmentation syndrome MONDO:0019704 Orphanet:2786 Orphanet:93446 obsolete primary bone dysplasia with decreased bone density -MONDO:0011020 osteoporosis-oculocutaneous hypopigmentation syndrome MONDO:8000032 Orphanet:2786 Orphanet:377789 obsolete malformation syndrome -MONDO:0011022 Potocki-Shaffer syndrome MONDO:0035863 Orphanet:52022 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0011022 Potocki-Shaffer syndrome MONDO:8000032 Orphanet:52022 Orphanet:377789 obsolete malformation syndrome -MONDO:0011023 hereditary mixed polyposis syndrome MONDO:0018188 Orphanet:157794 Orphanet:363314 obsolete hereditary intestinal polyposis -MONDO:0011025 Cayman type cerebellar ataxia MONDO:0035862 Orphanet:94122 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome -MONDO:0011028 autosomal recessive limb-girdle muscular dystrophy type 2F MONDO:0016334 Orphanet:219 Orphanet:217610 obsolete neuromuscular disease with dilated cardiomyopathy -MONDO:0011034 odontomicronychial dysplasia MONDO:0015336 Orphanet:1811 Orphanet:139042 obsolete malformation syndrome with odontal and/or periodontal component -MONDO:0011034 odontomicronychial dysplasia MONDO:0019285 Orphanet:1811 Orphanet:79370 obsolete syndromic nail anomaly -MONDO:0011034 odontomicronychial dysplasia MONDO:8000032 Orphanet:1811 Orphanet:377789 obsolete malformation syndrome -MONDO:0011035 neurofibromatosis-Noonan syndrome MONDO:0015950 Orphanet:638 Orphanet:183487 obsolete inherited skin tumor -MONDO:0011035 neurofibromatosis-Noonan syndrome MONDO:0019300 Orphanet:638 Orphanet:79386 obsolete rare skin tumor or hamartoma -MONDO:0011035 neurofibromatosis-Noonan syndrome MONDO:0020063 Orphanet:638 Orphanet:98196 obsolete malformation syndrome with hamartosis -MONDO:0011035 neurofibromatosis-Noonan syndrome MONDO:8000032 Orphanet:638 Orphanet:377789 obsolete malformation syndrome -MONDO:0011036 porencephaly-cerebellar hypoplasia-internal malformations syndrome MONDO:0017118 Orphanet:2941 Orphanet:269523 obsolete syndrome with a cerebellar malformation as major feature -MONDO:0011036 porencephaly-cerebellar hypoplasia-internal malformations syndrome MONDO:8000032 Orphanet:2941 Orphanet:377789 obsolete malformation syndrome -MONDO:0011038 cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome MONDO:0018609 Orphanet:1171 Orphanet:441434 obsolete syndromic hereditary optic neuropathy -MONDO:0011038 cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome MONDO:0019589 Orphanet:1171 Orphanet:90642 obsolete syndromic genetic hearing loss -MONDO:0011041 ectodermal dysplasia with natal teeth, Turnpenny type MONDO:0015336 Orphanet:69083 Orphanet:139042 obsolete malformation syndrome with odontal and/or periodontal component -MONDO:0011041 ectodermal dysplasia with natal teeth, Turnpenny type MONDO:0026190 Orphanet:69083 Orphanet:183580 obsolete genetic malformation syndrome with odontal and/or periodontal component -MONDO:0011041 ectodermal dysplasia with natal teeth, Turnpenny type MONDO:8000032 Orphanet:69083 Orphanet:377789 obsolete malformation syndrome -MONDO:0011045 MMEP syndrome MONDO:0035863 Orphanet:3434 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0011045 MMEP syndrome MONDO:8000032 Orphanet:3434 Orphanet:377789 obsolete malformation syndrome -MONDO:0011046 short stature, Brussels type MONDO:0800089 Orphanet:2867 Orphanet:93450 obsolete primary bone dysplasia with disorganized development of skeletal components -MONDO:0011046 short stature, Brussels type MONDO:8000032 Orphanet:2867 Orphanet:377789 obsolete malformation syndrome -MONDO:0011047 deafness-epiphyseal dysplasia-short stature syndrome MONDO:0019589 Orphanet:3218 Orphanet:90642 obsolete syndromic genetic hearing loss -MONDO:0011047 deafness-epiphyseal dysplasia-short stature syndrome MONDO:8000032 Orphanet:3218 Orphanet:377789 obsolete malformation syndrome -MONDO:0011048 epilepsy-microcephaly-skeletal dysplasia syndrome MONDO:0035863 Orphanet:1948 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0011048 epilepsy-microcephaly-skeletal dysplasia syndrome MONDO:8000032 Orphanet:1948 Orphanet:377789 obsolete malformation syndrome -MONDO:0011049 Fine-Lubinsky syndrome MONDO:0020225 Orphanet:1272 Orphanet:98641 obsolete syndromic cataract -MONDO:0011049 Fine-Lubinsky syndrome MONDO:0035863 Orphanet:1272 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0011049 Fine-Lubinsky syndrome MONDO:8000032 Orphanet:1272 Orphanet:377789 obsolete malformation syndrome -MONDO:0011050 microcephaly-cardiac defect-lung malsegmentation syndrome MONDO:0015506 Orphanet:2516 Orphanet:156532 obsolete rare syndrome with cardiac malformations -MONDO:0011050 microcephaly-cardiac defect-lung malsegmentation syndrome MONDO:0043008 Orphanet:2516 Orphanet:330206 obsolete genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability -MONDO:0011050 microcephaly-cardiac defect-lung malsegmentation syndrome MONDO:8000032 Orphanet:2516 Orphanet:377789 obsolete malformation syndrome -MONDO:0011051 lethal short-limb skeletal dysplasia, Al Gazali type MONDO:8000031 Orphanet:646136 Orphanet:557494 obsolete subtype of a disorder -MONDO:0011053 intellectual disability-sparse hair-brachydactyly syndrome MONDO:0035863 Orphanet:3051 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0011053 intellectual disability-sparse hair-brachydactyly syndrome MONDO:8000032 Orphanet:3051 Orphanet:377789 obsolete malformation syndrome -MONDO:0011054 autosomal recessive amelia MONDO:0017433 Orphanet:1027 Orphanet:294957 obsolete dysostosis with combined reduction defects of upper and lower limbs -MONDO:0011054 autosomal recessive amelia MONDO:8000032 Orphanet:1027 Orphanet:377789 obsolete malformation syndrome -MONDO:0011055 distal monosomy 10p MONDO:8000032 Orphanet:1580 Orphanet:377789 obsolete malformation syndrome -MONDO:0011059 holoprosencephaly-craniosynostosis syndrome MONDO:0017120 Orphanet:2163 Orphanet:269531 obsolete other syndrome with a central nervous system malformation as major feature -MONDO:0011059 holoprosencephaly-craniosynostosis syndrome MONDO:0020253 Orphanet:2163 Orphanet:98683 obsolete syndrome with a symptomatic strabismus -MONDO:0011059 holoprosencephaly-craniosynostosis syndrome MONDO:8000032 Orphanet:2163 Orphanet:377789 obsolete malformation syndrome -MONDO:0011060 early-onset non-syndromic cataract MONDO:0020145 Orphanet:91492 Orphanet:98553 obsolete developmental defect of the eye -MONDO:0011060 early-onset non-syndromic cataract MONDO:0020224 Orphanet:91492 Orphanet:98640 obsolete rare cataract -MONDO:0011060 early-onset non-syndromic cataract MONDO:0026186 Orphanet:91492 Orphanet:183557 obsolete genetic developmental defect of the eye -MONDO:0011062 aprosencephaly cerebellar dysgenesis MONDO:0017090 Orphanet:1126 Orphanet:268926 obsolete midline cerebral malformation -MONDO:0011062 aprosencephaly cerebellar dysgenesis MONDO:8000032 Orphanet:1126 Orphanet:377789 obsolete malformation syndrome -MONDO:0011063 hidrotic ectodermal dysplasia, Christianson-Fourie type MONDO:8000032 Orphanet:1808 Orphanet:377789 obsolete malformation syndrome -MONDO:0011065 Hunter-McAlpine craniosynostosis MONDO:0020018 Orphanet:97340 Orphanet:98038 obsolete cranial malformation -MONDO:0011065 Hunter-McAlpine craniosynostosis MONDO:8000032 Orphanet:97340 Orphanet:377789 obsolete malformation syndrome -MONDO:0011071 hereditary thrombocytopenia and hematologic cancer predisposition syndrome MONDO:0018796 Orphanet:71290 Orphanet:477797 obsolete isolated constitutional thrombocytopenia -MONDO:0011071 hereditary thrombocytopenia and hematologic cancer predisposition syndrome MONDO:0020118 Orphanet:71290 Orphanet:98456 obsolete dense granule disease -MONDO:0011076 myofibrillar myopathy 1 MONDO:0016334 Orphanet:98909 Orphanet:217610 obsolete neuromuscular disease with dilated cardiomyopathy -MONDO:0011076 myofibrillar myopathy 1 MONDO:0026989 Orphanet:98909 Orphanet:217595 obsolete syndrome associated with hypertrophic cardiomyopathy -MONDO:0011078 anterior chamber cleavage disorder, cerebellar hypoplasia, hypothyroidism, and tracheal stenosis MONDO:0015778 Orphanet:2321 Orphanet:177107 obsolete syndromic hypothyroidism -MONDO:0011078 anterior chamber cleavage disorder, cerebellar hypoplasia, hypothyroidism, and tracheal stenosis MONDO:8000032 Orphanet:2321 Orphanet:377789 obsolete malformation syndrome -MONDO:0011079 rhizomelic dysplasia, Patterson-Lowry type MONDO:0019697 Orphanet:2831 Orphanet:93438 obsolete mesomelic and rhizo-mesomelic dysplasia -MONDO:0011079 rhizomelic dysplasia, Patterson-Lowry type MONDO:8000032 Orphanet:2831 Orphanet:377789 obsolete malformation syndrome -MONDO:0011080 progressive deafness with stapes fixation MONDO:0019589 Orphanet:3235 Orphanet:90642 obsolete syndromic genetic hearing loss -MONDO:0011080 progressive deafness with stapes fixation MONDO:8000032 Orphanet:3235 Orphanet:377789 obsolete malformation syndrome -MONDO:0011081 dislocation of the hip-dysmorphism syndrome MONDO:0043008 Orphanet:2412 Orphanet:330206 obsolete genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability -MONDO:0011081 dislocation of the hip-dysmorphism syndrome MONDO:8000032 Orphanet:2412 Orphanet:377789 obsolete malformation syndrome -MONDO:0011082 oculoauriculofrontonasal syndrome MONDO:8000032 Orphanet:398156 Orphanet:377789 obsolete malformation syndrome -MONDO:0011083 trichodental syndrome MONDO:0015336 Orphanet:3351 Orphanet:139042 obsolete malformation syndrome with odontal and/or periodontal component -MONDO:0011083 trichodental syndrome MONDO:0019282 Orphanet:3351 Orphanet:79367 obsolete syndromic hair shaft abnormality -MONDO:0011083 trichodental syndrome MONDO:0026190 Orphanet:3351 Orphanet:183580 obsolete genetic malformation syndrome with odontal and/or periodontal component -MONDO:0011083 trichodental syndrome MONDO:8000032 Orphanet:3351 Orphanet:377789 obsolete malformation syndrome -MONDO:0011090 isolated hereditary congenital facial paralysis MONDO:0015499 Orphanet:306527 Orphanet:156224 obsolete paralytic facial malformation -MONDO:0011090 isolated hereditary congenital facial paralysis MONDO:0020132 Orphanet:306527 Orphanet:98518 obsolete cranial nerve and nuclear aplasia -MONDO:0011090 isolated hereditary congenital facial paralysis MONDO:8000030 Orphanet:306527 Orphanet:377791 obsolete morphological anomaly -MONDO:0011096 autosomal agammaglobulinemia MONDO:8000031 Orphanet:33110 Orphanet:557494 obsolete subtype of a disorder -MONDO:0011099 human HOXA1 syndromes MONDO:0019117 Orphanet:69739 Orphanet:71859 obsolete genetic nervous system disorder -MONDO:0011099 human HOXA1 syndromes MONDO:0019589 Orphanet:69739 Orphanet:90642 obsolete syndromic genetic hearing loss -MONDO:0011099 human HOXA1 syndromes MONDO:0020009 Orphanet:69739 Orphanet:98006 obsolete rare neurologic disease -MONDO:0011106 facial dysmorphism-lens dislocation-anterior segment abnormalities-spontaneous filtering blebs syndrome MONDO:0034937 Orphanet:412022 Orphanet:519292 obsolete syndromic ectopia lentis -MONDO:0011106 facial dysmorphism-lens dislocation-anterior segment abnormalities-spontaneous filtering blebs syndrome MONDO:8000032 Orphanet:412022 Orphanet:377789 obsolete malformation syndrome -MONDO:0011107 congenital hypotrichosis with juvenile macular dystrophy MONDO:0034953 Orphanet:1573 Orphanet:519325 obsolete syndromic inherited retinal disorder -MONDO:0011107 congenital hypotrichosis with juvenile macular dystrophy MONDO:8000032 Orphanet:1573 Orphanet:377789 obsolete malformation syndrome -MONDO:0011114 familial multiple trichoepithelioma MONDO:8000031 Orphanet:867 Orphanet:557494 obsolete subtype of a disorder -MONDO:0011116 lung agenesis-heart defect-thumb anomalies syndrome MONDO:0015221 Orphanet:1120 Orphanet:108993 obsolete non-syndromic respiratory or mediastinal malformation -MONDO:0011116 lung agenesis-heart defect-thumb anomalies syndrome MONDO:0015222 Orphanet:1120 Orphanet:108995 obsolete syndromic respiratory or mediastinal malformation -MONDO:0011116 lung agenesis-heart defect-thumb anomalies syndrome MONDO:0015930 Orphanet:1120 Orphanet:182111 obsolete respiratory malformation -MONDO:0011116 lung agenesis-heart defect-thumb anomalies syndrome MONDO:0026203 Orphanet:1120 Orphanet:183622 obsolete genetic respiratory malformation -MONDO:0011116 lung agenesis-heart defect-thumb anomalies syndrome MONDO:8000032 Orphanet:1120 Orphanet:377789 obsolete malformation syndrome -MONDO:0011119 iridogoniodysgenesis MONDO:0020216 Orphanet:98634 Orphanet:98631 obsolete secondary dysgenetic glaucoma -MONDO:0011128 Sheldon-hall syndrome MONDO:8000032 Orphanet:1147 Orphanet:377789 obsolete malformation syndrome -MONDO:0011132 T-cell immunodeficiency, congenital alopecia, and nail dystrophy MONDO:0018035 Orphanet:169095 Orphanet:331217 obsolete syndrome with combined immunodeficiency -MONDO:0011133 deaf blind hypopigmentation syndrome, Yemenite type MONDO:0019589 Orphanet:3214 Orphanet:90642 obsolete syndromic genetic hearing loss -MONDO:0011133 deaf blind hypopigmentation syndrome, Yemenite type MONDO:0020253 Orphanet:3214 Orphanet:98683 obsolete syndrome with a symptomatic strabismus -MONDO:0011133 deaf blind hypopigmentation syndrome, Yemenite type MONDO:8000032 Orphanet:3214 Orphanet:377789 obsolete malformation syndrome -MONDO:0011134 Curry-Jones syndrome MONDO:0016055 Orphanet:1553 Orphanet:199639 obsolete syndrome with corpus callosum agenesis /dysgenesis as a major feature -MONDO:0011134 Curry-Jones syndrome MONDO:0035863 Orphanet:1553 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0011134 Curry-Jones syndrome MONDO:8000032 Orphanet:1553 Orphanet:377789 obsolete malformation syndrome -MONDO:0011142 Ehlers-Danlos syndrome, musculocontractural type MONDO:0017742 Orphanet:2953 Orphanet:309450 obsolete disorder of O-xylosylglycan synthesis -MONDO:0011142 Ehlers-Danlos syndrome, musculocontractural type MONDO:0018284 Orphanet:2953 Orphanet:371047 obsolete congenital disorder of glycosylation with neurological involvement -MONDO:0011142 Ehlers-Danlos syndrome, musculocontractural type MONDO:0018290 Orphanet:2953 Orphanet:371183 obsolete congenital disorder of glycosylation with cardiac malformation as a major feature -MONDO:0011142 Ehlers-Danlos syndrome, musculocontractural type MONDO:0018293 Orphanet:2953 Orphanet:371200 obsolete congenital disorder of glycosylation with skin involvement -MONDO:0011142 Ehlers-Danlos syndrome, musculocontractural type MONDO:0018294 Orphanet:2953 Orphanet:371207 obsolete congenital disorder of glycosylation with nephropathy as a major feature -MONDO:0011144 ceroid lipofuscinosis, neuronal, 6A MONDO:8000031 Orphanet:228363 Orphanet:557494 obsolete subtype of a disorder -MONDO:0011145 colobomatous microphthalmia - obesity - hypogenitalism - intellectual disability syndrome MONDO:0016565 Orphanet:363741 Orphanet:240371 obsolete syndromic genetic obesity -MONDO:0011145 colobomatous microphthalmia - obesity - hypogenitalism - intellectual disability syndrome MONDO:0035863 Orphanet:363741 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0011146 tetrasomy 12p MONDO:0015216 Orphanet:884 Orphanet:108979 obsolete syndromic diaphragmatic or abdominal wall malformation -MONDO:0011146 tetrasomy 12p MONDO:0015246 Orphanet:884 Orphanet:117573 obsolete syndromic anorectal malformation -MONDO:0011146 tetrasomy 12p MONDO:0015652 Orphanet:884 Orphanet:166469 obsolete chromosomal anomaly with epilepsy as a major feature -MONDO:0011146 tetrasomy 12p MONDO:0015880 Orphanet:884 Orphanet:180779 obsolete syndromic diaphragmatic or thoracic malformation -MONDO:0011146 tetrasomy 12p MONDO:0019717 Orphanet:884 Orphanet:93461 obsolete chromosomal disease with overgrowth -MONDO:0011146 tetrasomy 12p MONDO:8000032 Orphanet:884 Orphanet:377789 obsolete malformation syndrome -MONDO:0011147 chromosome 18q deletion syndrome MONDO:0015501 Orphanet:1600 Orphanet:156237 obsolete syndrome or malformation associated with head and neck malformations -MONDO:0011147 chromosome 18q deletion syndrome MONDO:0020226 Orphanet:1600 Orphanet:98642 obsolete chromosomal anomaly with cataract -MONDO:0011147 chromosome 18q deletion syndrome MONDO:8000032 Orphanet:1600 Orphanet:377789 obsolete malformation syndrome -MONDO:0011150 acroosteolysis-keloid-like lesions-premature aging syndrome MONDO:0031689 Orphanet:363665 Orphanet:363245 obsolete genetic progeroid syndrome -MONDO:0011152 PHGDH deficiency MONDO:8000031 Orphanet:79351 Orphanet:557494 obsolete subtype of a disorder -MONDO:0011154 acrofacial dysostosis, Palagonia type MONDO:0015334 Orphanet:1787 Orphanet:139036 obsolete branchial arch or oral-acral syndrome -MONDO:0011154 acrofacial dysostosis, Palagonia type MONDO:0026189 Orphanet:1787 Orphanet:183576 obsolete genetic branchial arch or oral-acral syndrome -MONDO:0011154 acrofacial dysostosis, Palagonia type MONDO:8000032 Orphanet:1787 Orphanet:377789 obsolete malformation syndrome -MONDO:0011156 progressive familial intrahepatic cholestasis type 2 MONDO:8000031 Orphanet:79304 Orphanet:557494 obsolete subtype of a disorder -MONDO:0011157 Gomez-Lopez-Hernandez syndrome MONDO:0017118 Orphanet:1532 Orphanet:269523 obsolete syndrome with a cerebellar malformation as major feature -MONDO:0011157 Gomez-Lopez-Hernandez syndrome MONDO:8000032 Orphanet:1532 Orphanet:377789 obsolete malformation syndrome -MONDO:0011166 lymphedema-atrial septal defects-facial changes syndrome MONDO:0035470 Orphanet:86915 Orphanet:568044 obsolete primary lymphedema with systemic or visceral involvement -MONDO:0011166 lymphedema-atrial septal defects-facial changes syndrome MONDO:8000032 Orphanet:86915 Orphanet:377789 obsolete malformation syndrome -MONDO:0011169 keratosis linearis-ichthyosis congenita-sclerosing keratoderma syndrome MONDO:0017262 Orphanet:281201 Orphanet:281082 obsolete inherited non-syndromic ichthyosis -MONDO:0011169 keratosis linearis-ichthyosis congenita-sclerosing keratoderma syndrome MONDO:0017670 Orphanet:281201 Orphanet:307773 obsolete autosomal dominant diffuse mutilating palmoplantar keratoderma -MONDO:0011171 odonto-tricho-ungual-digito-palmar syndrome MONDO:0015336 Orphanet:69082 Orphanet:139042 obsolete malformation syndrome with odontal and/or periodontal component -MONDO:0011171 odonto-tricho-ungual-digito-palmar syndrome MONDO:0026190 Orphanet:69082 Orphanet:183580 obsolete genetic malformation syndrome with odontal and/or periodontal component -MONDO:0011171 odonto-tricho-ungual-digito-palmar syndrome MONDO:8000032 Orphanet:69082 Orphanet:377789 obsolete malformation syndrome -MONDO:0011176 intestinal hypomagnesemia 1 MONDO:0019744 Orphanet:30924 Orphanet:93603 obsolete rare renal tubular disease -MONDO:0011184 childhood apraxia of speech MONDO:0019117 Orphanet:209908 Orphanet:71859 obsolete genetic nervous system disorder -MONDO:0011190 nephronophthisis 2 MONDO:8000031 Orphanet:93591 Orphanet:557494 obsolete subtype of a disorder -MONDO:0011197 hereditary thermosensitive neuropathy MONDO:0015359 Orphanet:84093 Orphanet:140453 obsolete autosomal dominant hereditary demyelinating motor and sensory neuropathy -MONDO:0011202 RHYNS syndrome MONDO:0020240 Orphanet:140976 Orphanet:98661 obsolete syndromic retinitis pigmentosa -MONDO:0011202 RHYNS syndrome MONDO:0022409 Orphanet:140976 Orphanet:156162 obsolete nephropathy-associated ciliopathy -MONDO:0011208 malignant atrophic papulosis MONDO:0015948 Orphanet:679 Orphanet:183478 obsolete rare genetic skin vascular disorder -MONDO:0011208 malignant atrophic papulosis MONDO:0028795 Orphanet:679 Orphanet:271870 obsolete rare genetic systemic or rheumatologic disease -MONDO:0011211 axial spondylometaphyseal dysplasia MONDO:0020240 Orphanet:168549 Orphanet:98661 obsolete syndromic retinitis pigmentosa -MONDO:0011213 Pierpont syndrome MONDO:0035863 Orphanet:487825 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0011213 Pierpont syndrome MONDO:8000032 Orphanet:487825 Orphanet:377789 obsolete malformation syndrome -MONDO:0011214 progressive familial intrahepatic cholestasis type 3 MONDO:8000031 Orphanet:79305 Orphanet:557494 obsolete subtype of a disorder -MONDO:0011215 osteocraniostenosis MONDO:0019699 Orphanet:2763 Orphanet:93440 obsolete slender bone dysplasia -MONDO:0011215 osteocraniostenosis MONDO:0020018 Orphanet:2763 Orphanet:98038 obsolete cranial malformation -MONDO:0011215 osteocraniostenosis MONDO:0026182 Orphanet:2763 Orphanet:183542 obsolete genetic cranial malformation -MONDO:0011215 osteocraniostenosis MONDO:8000032 Orphanet:2763 Orphanet:377789 obsolete malformation syndrome -MONDO:0011217 desmosterolosis MONDO:0035863 Orphanet:35107 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0011218 autosomal recessive congenital ichthyosis 11 MONDO:0017271 Orphanet:91132 Orphanet:281222 obsolete autosomal ichthyosis syndrome with prominent hair abnormalities -MONDO:0011218 autosomal recessive congenital ichthyosis 11 MONDO:0021034 Orphanet:91132 Orphanet:481771 obsolete hereditary alopecia -MONDO:0011219 Fried's tooth and nail syndrome MONDO:8000032 Orphanet:99672 Orphanet:377789 obsolete malformation syndrome -MONDO:0011223 amyotrophic lateral sclerosis type 4 MONDO:0015918 Orphanet:357043 Orphanet:182070 obsolete rare neurodegenerative disease -MONDO:0011227 short stature-auditory canal atresia-mandibular hypoplasia-skeletal anomalies syndrome MONDO:0015329 Orphanet:397623 Orphanet:139021 obsolete malformation syndrome with short stature -MONDO:0011227 short stature-auditory canal atresia-mandibular hypoplasia-skeletal anomalies syndrome MONDO:0015502 Orphanet:397623 Orphanet:156243 obsolete pinnae and external auditory canal anomaly -MONDO:0011227 short stature-auditory canal atresia-mandibular hypoplasia-skeletal anomalies syndrome MONDO:0019589 Orphanet:397623 Orphanet:90642 obsolete syndromic genetic hearing loss -MONDO:0011227 short stature-auditory canal atresia-mandibular hypoplasia-skeletal anomalies syndrome MONDO:0019697 Orphanet:397623 Orphanet:93438 obsolete mesomelic and rhizo-mesomelic dysplasia -MONDO:0011227 short stature-auditory canal atresia-mandibular hypoplasia-skeletal anomalies syndrome MONDO:0026187 Orphanet:397623 Orphanet:183570 obsolete genetic malformation syndrome with short stature -MONDO:0011227 short stature-auditory canal atresia-mandibular hypoplasia-skeletal anomalies syndrome MONDO:0043008 Orphanet:397623 Orphanet:330206 obsolete genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability -MONDO:0011227 short stature-auditory canal atresia-mandibular hypoplasia-skeletal anomalies syndrome MONDO:8000032 Orphanet:397623 Orphanet:377789 obsolete malformation syndrome -MONDO:0011229 ethylmalonic encephalopathy MONDO:0016803 Orphanet:51188 Orphanet:254837 obsolete unspecified inborn mitochondrial disorder -MONDO:0011229 ethylmalonic encephalopathy MONDO:0035862 Orphanet:51188 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome -MONDO:0011235 pelvic dysplasia-arthrogryposis of lower limbs syndrome MONDO:0019711 Orphanet:2840 Orphanet:93454 obsolete dysostosis with predominant vertebral and costal involvement -MONDO:0011235 pelvic dysplasia-arthrogryposis of lower limbs syndrome MONDO:8000032 Orphanet:2840 Orphanet:377789 obsolete malformation syndrome -MONDO:0011240 megalencephaly-capillary malformation-polymicrogyria syndrome MONDO:0015945 Orphanet:60040 Orphanet:183422 obsolete polymalformative genetic syndrome with increased risk of developing cancer -MONDO:0011240 megalencephaly-capillary malformation-polymicrogyria syndrome MONDO:0015948 Orphanet:60040 Orphanet:183478 obsolete rare genetic skin vascular disorder -MONDO:0011240 megalencephaly-capillary malformation-polymicrogyria syndrome MONDO:0018719 Orphanet:60040 Orphanet:458830 obsolete obsolete rare capillary malformation with associated anomalies -MONDO:0011240 megalencephaly-capillary malformation-polymicrogyria syndrome MONDO:0035162 Orphanet:60040 Orphanet:530313 obsolete PIK3CA-related overgrowth syndrome -MONDO:0011240 megalencephaly-capillary malformation-polymicrogyria syndrome MONDO:0035863 Orphanet:60040 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0011240 megalencephaly-capillary malformation-polymicrogyria syndrome MONDO:8000032 Orphanet:60040 Orphanet:377789 obsolete malformation syndrome -MONDO:0011243 grange syndrome MONDO:0015332 Orphanet:79094 Orphanet:139030 obsolete rare developmental defect with connective tissue involvement -MONDO:0011243 grange syndrome MONDO:0035863 Orphanet:79094 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0011243 grange syndrome MONDO:0043008 Orphanet:79094 Orphanet:330206 obsolete genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability -MONDO:0011243 grange syndrome MONDO:8000032 Orphanet:79094 Orphanet:377789 obsolete malformation syndrome -MONDO:0011244 Marshall-Smith syndrome MONDO:0035863 Orphanet:561 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0011244 Marshall-Smith syndrome MONDO:0800091 Orphanet:561 Orphanet:498448 obsolete overgrowth or tall stature syndrome with skeletal involvement -MONDO:0011244 Marshall-Smith syndrome MONDO:8000032 Orphanet:561 Orphanet:377789 obsolete malformation syndrome -MONDO:0011246 megaconial type congenital muscular dystrophy MONDO:0018120 Orphanet:280671 Orphanet:352312 obsolete disorder of phospholipids, sphingolipids and fatty acids biosynthesis with skeletal muscle predominant involvement -MONDO:0011248 distal monosomy 13q MONDO:0015246 Orphanet:1590 Orphanet:117573 obsolete syndromic anorectal malformation -MONDO:0011248 distal monosomy 13q MONDO:0020226 Orphanet:1590 Orphanet:98642 obsolete chromosomal anomaly with cataract -MONDO:0011248 distal monosomy 13q MONDO:8000032 Orphanet:1590 Orphanet:377789 obsolete malformation syndrome -MONDO:0011253 craniomicromelic syndrome MONDO:8000032 Orphanet:1524 Orphanet:377789 obsolete malformation syndrome -MONDO:0011255 mandibulofacial dysostosis-macroblepharon-macrostomia syndrome MONDO:0015334 Orphanet:357158 Orphanet:139036 obsolete branchial arch or oral-acral syndrome -MONDO:0011255 mandibulofacial dysostosis-macroblepharon-macrostomia syndrome MONDO:0026189 Orphanet:357158 Orphanet:183576 obsolete genetic branchial arch or oral-acral syndrome -MONDO:0011257 MPI-congenital disorder of glycosylation MONDO:0018288 Orphanet:79319 Orphanet:371157 obsolete congenital disorder of glycosylation with hepatic involvement -MONDO:0011257 MPI-congenital disorder of glycosylation MONDO:0018291 Orphanet:79319 Orphanet:371188 obsolete congenital disorder of glycosylation with intestinal involvement -MONDO:0011257 MPI-congenital disorder of glycosylation MONDO:0035862 Orphanet:79319 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome -MONDO:0011261 spondyloepiphyseal dysplasia with coronal craniosynostosis, cataracts, cleft palate, and intellectual disability MONDO:0015335 Orphanet:163649 Orphanet:139039 obsolete Mendelian syndromes with cleft lip/palate -MONDO:0011261 spondyloepiphyseal dysplasia with coronal craniosynostosis, cataracts, cleft palate, and intellectual disability MONDO:0035863 Orphanet:163649 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0011262 camptodactyly, myopia, and fibrosis of the medial rectus muscle of eye MONDO:0018235 Orphanet:1323 Orphanet:364568 obsolete dysostosis with limb anomaly as a major feature -MONDO:0011262 camptodactyly, myopia, and fibrosis of the medial rectus muscle of eye MONDO:0020169 Orphanet:1323 Orphanet:98578 obsolete rare disorder with ptosis -MONDO:0011262 camptodactyly, myopia, and fibrosis of the medial rectus muscle of eye MONDO:0043008 Orphanet:1323 Orphanet:330206 obsolete genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability -MONDO:0011262 camptodactyly, myopia, and fibrosis of the medial rectus muscle of eye MONDO:8000032 Orphanet:1323 Orphanet:377789 obsolete malformation syndrome -MONDO:0011266 myotonic dystrophy type 2 MONDO:0015906 Orphanet:606 Orphanet:181441 obsolete rare disorder with hypergonadotropic hypogonadism -MONDO:0011266 myotonic dystrophy type 2 MONDO:0020169 Orphanet:606 Orphanet:98578 obsolete rare disorder with ptosis -MONDO:0011266 myotonic dystrophy type 2 MONDO:0020225 Orphanet:606 Orphanet:98641 obsolete syndromic cataract -MONDO:0011273 H syndrome MONDO:0015886 Orphanet:168569 Orphanet:181371 obsolete rare diabetes mellitus type 1 -MONDO:0011273 H syndrome MONDO:0019589 Orphanet:168569 Orphanet:90642 obsolete syndromic genetic hearing loss -MONDO:0011273 H syndrome MONDO:8000032 Orphanet:168569 Orphanet:377789 obsolete malformation syndrome -MONDO:0011274 Muenke syndrome MONDO:0035863 Orphanet:53271 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0011274 Muenke syndrome MONDO:8000032 Orphanet:53271 Orphanet:377789 obsolete malformation syndrome -MONDO:0011275 acromesomelic dysplasia 1, Maroteaux type MONDO:8000032 Orphanet:40 Orphanet:377789 obsolete malformation syndrome -MONDO:0011287 craniosynostosis-anal anomalies-porokeratosis syndrome MONDO:0019709 Orphanet:85199 Orphanet:93451 obsolete cleidocranial dysplasia and isolated cranial ossification defect -MONDO:0011287 craniosynostosis-anal anomalies-porokeratosis syndrome MONDO:8000032 Orphanet:85199 Orphanet:377789 obsolete malformation syndrome -MONDO:0011291 ALG6-congenital disorder of glycosylation 1C MONDO:0018287 Orphanet:79320 Orphanet:371071 obsolete congenital disorder of glycosylation with epilepsy as a major feature -MONDO:0011291 ALG6-congenital disorder of glycosylation 1C MONDO:0018291 Orphanet:79320 Orphanet:371188 obsolete congenital disorder of glycosylation with intestinal involvement -MONDO:0011291 ALG6-congenital disorder of glycosylation 1C MONDO:0035862 Orphanet:79320 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome -MONDO:0011299 Huntington disease-like 1 MONDO:0017234 Orphanet:157941 Orphanet:280400 obsolete inherited prion disease -MONDO:0011299 Huntington disease-like 1 MONDO:0017646 Orphanet:157941 Orphanet:306719 obsolete neurodegenerative disease with chorea -MONDO:0011301 pseudohypoparathyroidism type 1B MONDO:0018700 Orphanet:94089 Orphanet:457062 obsolete pseudohypoparathyroidism without Albright hereditary osteodystrophy -MONDO:0011308 GRACILE syndrome MONDO:0015115 Orphanet:53693 Orphanet:101940 obsolete rare genetic metabolic liver disease -MONDO:0011308 GRACILE syndrome MONDO:0017718 Orphanet:53693 Orphanet:309136 obsolete mitochondrial disorder due to a defect in assembly or maturation of the respiratory chain complexes -MONDO:0011309 familial gestational hyperthyroidism MONDO:0015582 Orphanet:99819 Orphanet:163637 obsolete rare disorder related with pregnancy, childbirth and puerperium -MONDO:0011309 familial gestational hyperthyroidism MONDO:0015894 Orphanet:99819 Orphanet:181399 obsolete rare hyperthyroidism -MONDO:0011320 radioulnar synostosis-microcephaly-scoliosis syndrome MONDO:0800095 Orphanet:3268 Orphanet:93459 obsolete syndrome with synostosis or other joint formation defect -MONDO:0011320 radioulnar synostosis-microcephaly-scoliosis syndrome MONDO:8000032 Orphanet:3268 Orphanet:377789 obsolete malformation syndrome -MONDO:0011327 neuronal intranuclear inclusion disease MONDO:0015918 Orphanet:2289 Orphanet:182070 obsolete rare neurodegenerative disease -MONDO:0011327 neuronal intranuclear inclusion disease MONDO:0017641 Orphanet:2289 Orphanet:306695 obsolete miscellaneous movement disorder due to neurodegenerative disease -MONDO:0011327 neuronal intranuclear inclusion disease MONDO:0017662 Orphanet:2289 Orphanet:307058 obsolete miscellaneous movement disorder due to genetic neurodegenerative disease -MONDO:0011327 neuronal intranuclear inclusion disease MONDO:0019515 Orphanet:2289 Orphanet:89043 obsolete rare dementia -MONDO:0011331 congenital chylothorax MONDO:0017017 Orphanet:264688 Orphanet:264683 obsolete primary interstitial lung disease specific to childhood due to alveolar vascular disorder -MONDO:0011334 limb-mammary syndrome MONDO:0015853 Orphanet:69085 Orphanet:180173 obsolete deficient breast volume or number -MONDO:0011334 limb-mammary syndrome MONDO:0020197 Orphanet:69085 Orphanet:98609 obsolete EEC syndrome and related syndrome -MONDO:0011334 limb-mammary syndrome MONDO:0800090 Orphanet:69085 Orphanet:498477 obsolete ectrodactyly with and without other manifestations -MONDO:0011334 limb-mammary syndrome MONDO:8000032 Orphanet:69085 Orphanet:377789 obsolete malformation syndrome -MONDO:0011335 spondyloepimetaphyseal dysplasia with multiple dislocations MONDO:0800086 Orphanet:93360 Orphanet:93441 obsolete primary bone dysplasia with multiple joint dislocations -MONDO:0011339 hereditary spastic paraplegia 8 MONDO:0017914 Orphanet:100989 Orphanet:320342 obsolete pure or complex autosomal dominant spastic paraplegia -MONDO:0011340 congenital tracheal stenosis MONDO:0015505 Orphanet:141127 Orphanet:156252 obsolete tracheal anomaly -MONDO:0011340 congenital tracheal stenosis MONDO:0033336 Orphanet:141127 Orphanet:435612 obsolete genetic tracheal anomaly -MONDO:0011340 congenital tracheal stenosis MONDO:8000030 Orphanet:141127 Orphanet:377791 obsolete morphological anomaly -MONDO:0011342 SLC35A1-congenital disorder of glycosylation MONDO:0018287 Orphanet:238459 Orphanet:371071 obsolete congenital disorder of glycosylation with epilepsy as a major feature -MONDO:0011342 SLC35A1-congenital disorder of glycosylation MONDO:0018294 Orphanet:238459 Orphanet:371207 obsolete congenital disorder of glycosylation with nephropathy as a major feature -MONDO:0011342 SLC35A1-congenital disorder of glycosylation MONDO:0035862 Orphanet:238459 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome -MONDO:0011346 xanthinuria type II MONDO:8000031 Orphanet:93602 Orphanet:557494 obsolete subtype of a disorder -MONDO:0011348 non-syndromic polydactyly MONDO:0019714 Orphanet:2913 Orphanet:93458 obsolete non-syndromic polydactyly, syndactyly and/or hyperphalangy -MONDO:0011359 acromelic frontonasal dysostosis MONDO:0035863 Orphanet:1827 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0011359 acromelic frontonasal dysostosis MONDO:8000032 Orphanet:1827 Orphanet:377789 obsolete malformation syndrome -MONDO:0011365 blepharophimosis - intellectual disability syndrome, SBBYS type MONDO:0015778 Orphanet:3047 Orphanet:177107 obsolete syndromic hypothyroidism -MONDO:0011365 blepharophimosis - intellectual disability syndrome, SBBYS type MONDO:0036042 Orphanet:3047 Orphanet:597749 obsolete KAT6B-related multiple congenital anomalies syndrome -MONDO:0011365 blepharophimosis - intellectual disability syndrome, SBBYS type MONDO:8000032 Orphanet:3047 Orphanet:377789 obsolete malformation syndrome -MONDO:0011381 dominant beta-thalassemia MONDO:8000031 Orphanet:231226 Orphanet:557494 obsolete subtype of a disorder -MONDO:0011382 sickle cell anemia MONDO:0017146 Orphanet:232 Orphanet:275752 obsolete sickle cell disease and related diseases -MONDO:0011382 sickle cell anemia MONDO:0018377 Orphanet:232 Orphanet:399185 obsolete rare hereditary disease with avascular necrosis -MONDO:0011382 sickle cell anemia MONDO:0018792 Orphanet:232 Orphanet:477771 obsolete Moyamoya syndrome -MONDO:0011382 sickle cell anemia MONDO:0019747 Orphanet:232 Orphanet:93614 obsolete hematological disorder with renal involvement -MONDO:0011396 loricrin keratoderma MONDO:0017262 Orphanet:79395 Orphanet:281082 obsolete inherited non-syndromic ichthyosis -MONDO:0011396 loricrin keratoderma MONDO:0017670 Orphanet:79395 Orphanet:307773 obsolete autosomal dominant diffuse mutilating palmoplantar keratoderma -MONDO:0011397 autosomal dominant cerebellar ataxia, deafness and narcolepsy MONDO:0019045 Orphanet:314404 Orphanet:68354 obsolete rare sleep disorder -MONDO:0011397 autosomal dominant cerebellar ataxia, deafness and narcolepsy MONDO:0019589 Orphanet:314404 Orphanet:90642 obsolete syndromic genetic hearing loss -MONDO:0011399 alpha thalassemia MONDO:0017144 Orphanet:846 Orphanet:275745 obsolete alpha-thalassemia and related diseases -MONDO:0011399 alpha thalassemia MONDO:0019747 Orphanet:846 Orphanet:93614 obsolete hematological disorder with renal involvement -MONDO:0011402 congenital cataracts-facial dysmorphism-neuropathy syndrome MONDO:0015361 Orphanet:48431 Orphanet:140459 obsolete autosomal recessive hereditary demyelinating motor and sensory neuropathy -MONDO:0011402 congenital cataracts-facial dysmorphism-neuropathy syndrome MONDO:0016136 Orphanet:48431 Orphanet:207028 obsolete cerebellar ataxia with peripheral neuropathy -MONDO:0011402 congenital cataracts-facial dysmorphism-neuropathy syndrome MONDO:0020165 Orphanet:48431 Orphanet:98574 obsolete syndromic epicanthus -MONDO:0011402 congenital cataracts-facial dysmorphism-neuropathy syndrome MONDO:0020225 Orphanet:48431 Orphanet:98641 obsolete syndromic cataract -MONDO:0011402 congenital cataracts-facial dysmorphism-neuropathy syndrome MONDO:0035863 Orphanet:48431 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0011402 congenital cataracts-facial dysmorphism-neuropathy syndrome MONDO:8000032 Orphanet:48431 Orphanet:377789 obsolete malformation syndrome -MONDO:0011405 poikiloderma with neutropenia MONDO:0018032 Orphanet:221046 Orphanet:331184 obsolete constitutional neutropenia with extra-hematopoietic manifestations -MONDO:0011408 hereditary spastic paraplegia 10 MONDO:0017914 Orphanet:100991 Orphanet:320342 obsolete pure or complex autosomal dominant spastic paraplegia -MONDO:0011408 hereditary spastic paraplegia 10 MONDO:0035862 Orphanet:100991 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome -MONDO:0011411 Chudley-McCullough syndrome MONDO:0017118 Orphanet:314597 Orphanet:269523 obsolete syndrome with a cerebellar malformation as major feature -MONDO:0011411 Chudley-McCullough syndrome MONDO:0017120 Orphanet:314597 Orphanet:269531 obsolete other syndrome with a central nervous system malformation as major feature -MONDO:0011411 Chudley-McCullough syndrome MONDO:0019589 Orphanet:314597 Orphanet:90642 obsolete syndromic genetic hearing loss -MONDO:0011411 Chudley-McCullough syndrome MONDO:8000032 Orphanet:314597 Orphanet:377789 obsolete malformation syndrome -MONDO:0011412 familial encephalopathy with neuroserpin inclusion bodies MONDO:0027750 Orphanet:85110 Orphanet:250808 obsolete serpinopathy with toxic serpin polymerization -MONDO:0011414 Peters anomaly MONDO:8000030 Orphanet:708 Orphanet:377791 obsolete morphological anomaly -MONDO:0011422 autosomal recessive proximal renal tubular acidosis MONDO:0035862 Orphanet:93607 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome -MONDO:0011422 autosomal recessive proximal renal tubular acidosis MONDO:8000031 Orphanet:93607 Orphanet:557494 obsolete subtype of a disorder -MONDO:0011423 autosomal recessive limb-girdle muscular dystrophy type 2E MONDO:0016334 Orphanet:119 Orphanet:217610 obsolete neuromuscular disease with dilated cardiomyopathy -MONDO:0011426 aceruloplasminemia MONDO:0020098 Orphanet:48818 Orphanet:98360 obsolete constitutional anemia due to iron metabolism disorder -MONDO:0011426 aceruloplasminemia MONDO:0034953 Orphanet:48818 Orphanet:519325 obsolete syndromic inherited retinal disorder -MONDO:0011429 juvenile idiopathic arthritis MONDO:0015940 Orphanet:92 Orphanet:182231 obsolete rare rheumatologic disease -MONDO:0011429 juvenile idiopathic arthritis MONDO:0017021 Orphanet:92 Orphanet:264704 obsolete secondary interstitial lung disease specific to childhood associated with a connective tissue disease -MONDO:0011432 blepharophimosis - intellectual disability syndrome, Verloes type MONDO:8000032 Orphanet:293725 Orphanet:377789 obsolete malformation syndrome -MONDO:0011441 complex regional pain syndrome type 1 MONDO:8000031 Orphanet:99995 Orphanet:557494 obsolete subtype of a disorder -MONDO:0011445 hereditary spastic paraplegia 11 MONDO:0017915 Orphanet:2822 Orphanet:320346 obsolete pure or complex autosomal recessive spastic paraplegia -MONDO:0011445 hereditary spastic paraplegia 11 MONDO:0035862 Orphanet:2822 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome -MONDO:0011449 Salla disease MONDO:8000031 Orphanet:309334 Orphanet:557494 obsolete subtype of a disorder -MONDO:0011454 patent ductus arteriosus-bicuspid aortic valve-hand anomalies syndrome MONDO:0015506 Orphanet:228190 Orphanet:156532 obsolete rare syndrome with cardiac malformations -MONDO:0011454 patent ductus arteriosus-bicuspid aortic valve-hand anomalies syndrome MONDO:8000032 Orphanet:228190 Orphanet:377789 obsolete malformation syndrome -MONDO:0011462 pyogenic arthritis-pyoderma gangrenosum-acne syndrome MONDO:0017369 Orphanet:69126 Orphanet:290839 obsolete autoinflammatory syndrome with immune deficiency -MONDO:0011462 pyogenic arthritis-pyoderma gangrenosum-acne syndrome MONDO:0017370 Orphanet:69126 Orphanet:290842 obsolete autoinflammatory syndrome with skin involvement -MONDO:0011462 pyogenic arthritis-pyoderma gangrenosum-acne syndrome MONDO:0017954 Orphanet:69126 Orphanet:324927 obsolete pyogenic autoinflammatory syndrome -MONDO:0011463 polyneuropathy, lethal neonatal, axonal sensorimotor, autosomal recessive MONDO:0019601 Orphanet:538096 Orphanet:91024 obsolete autosomal recessive axonal hereditary motor and sensory neuropathy -MONDO:0011468 hereditary motor and sensory neuropathy, Okinawa type MONDO:0015360 Orphanet:90117 Orphanet:140456 obsolete autosomal dominant hereditary axonal motor and sensory neuropathy -MONDO:0011469 congenital amegakaryocytic thrombocytopenia MONDO:0018796 Orphanet:3319 Orphanet:477797 obsolete isolated constitutional thrombocytopenia -MONDO:0011479 postural orthostatic tachycardia syndrome MONDO:0035013 Orphanet:443236 Orphanet:521232 obsolete genetic primary orthostatic disorder -MONDO:0011479 postural orthostatic tachycardia syndrome MONDO:0035014 Orphanet:443236 Orphanet:521236 obsolete primary orthostatic disorder -MONDO:0011481 craniosynostosis 2 MONDO:8000032 Orphanet:1541 Orphanet:377789 obsolete malformation syndrome -MONDO:0011487 Huntington disease-like 3 MONDO:0015918 Orphanet:157946 Orphanet:182070 obsolete rare neurodegenerative disease -MONDO:0011487 Huntington disease-like 3 MONDO:0017641 Orphanet:157946 Orphanet:306695 obsolete miscellaneous movement disorder due to neurodegenerative disease -MONDO:0011487 Huntington disease-like 3 MONDO:0017662 Orphanet:157946 Orphanet:307058 obsolete miscellaneous movement disorder due to genetic neurodegenerative disease -MONDO:0011489 hereditary spastic paraplegia 12 MONDO:0015088 Orphanet:100993 Orphanet:100980 obsolete autosomal dominant pure spastic paraplegia -MONDO:0011490 diffuse panbronchiolitis MONDO:0015118 Orphanet:171700 Orphanet:101944 obsolete rare pulmonary disease -MONDO:0011493 Stickler syndrome type 2 MONDO:0020232 Orphanet:90654 Orphanet:98648 obsolete musculoskeletal disease with cataract -MONDO:0011493 Stickler syndrome type 2 MONDO:0800087 Orphanet:90654 Orphanet:93422 obsolete type 11 collagen-related bone disorder -MONDO:0011493 Stickler syndrome type 2 MONDO:8000031 Orphanet:90654 Orphanet:557494 obsolete subtype of a disorder -MONDO:0011497 hereditary North American Indian childhood cirrhosis MONDO:8000031 Orphanet:168583 Orphanet:557494 obsolete subtype of a disorder -MONDO:0011500 Becker nevus syndrome MONDO:0015853 Orphanet:64755 Orphanet:180173 obsolete deficient breast volume or number -MONDO:0011500 Becker nevus syndrome MONDO:0017414 Orphanet:64755 Orphanet:294057 obsolete rare nevus -MONDO:0011500 Becker nevus syndrome MONDO:0020063 Orphanet:64755 Orphanet:98196 obsolete malformation syndrome with hamartosis -MONDO:0011501 wormian bone-multiple fractures-dentinogenesis imperfecta-skeletal dysplasia MONDO:0015877 Orphanet:166277 Orphanet:180766 obsolete malformative syndrome with dentinogenesis imperfecta -MONDO:0011501 wormian bone-multiple fractures-dentinogenesis imperfecta-skeletal dysplasia MONDO:0019704 Orphanet:166277 Orphanet:93446 obsolete primary bone dysplasia with decreased bone density -MONDO:0011501 wormian bone-multiple fractures-dentinogenesis imperfecta-skeletal dysplasia MONDO:0026190 Orphanet:166277 Orphanet:183580 obsolete genetic malformation syndrome with odontal and/or periodontal component -MONDO:0011501 wormian bone-multiple fractures-dentinogenesis imperfecta-skeletal dysplasia MONDO:8000032 Orphanet:166277 Orphanet:377789 obsolete malformation syndrome -MONDO:0011504 NDE1-related microhydranencephaly MONDO:0017118 Orphanet:443162 Orphanet:269523 obsolete syndrome with a cerebellar malformation as major feature -MONDO:0011504 NDE1-related microhydranencephaly MONDO:0017119 Orphanet:443162 Orphanet:269528 obsolete syndrome with microcephaly as major feature -MONDO:0011504 NDE1-related microhydranencephaly MONDO:0017120 Orphanet:443162 Orphanet:269531 obsolete other syndrome with a central nervous system malformation as major feature -MONDO:0011504 NDE1-related microhydranencephaly MONDO:8000032 Orphanet:443162 Orphanet:377789 obsolete malformation syndrome -MONDO:0011506 familial infantile myoclonic epilepsy MONDO:0035862 Orphanet:352582 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome -MONDO:0011510 Bohring-Opitz syndrome MONDO:0035863 Orphanet:97297 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0011510 Bohring-Opitz syndrome MONDO:8000032 Orphanet:97297 Orphanet:377789 obsolete malformation syndrome -MONDO:0011512 Brooke-Spiegler syndrome MONDO:0015950 Orphanet:79493 Orphanet:183487 obsolete inherited skin tumor -MONDO:0011512 Brooke-Spiegler syndrome MONDO:0019300 Orphanet:79493 Orphanet:79386 obsolete rare skin tumor or hamartoma -MONDO:0011514 tricuspid atresia MONDO:8000030 Orphanet:1209 Orphanet:377791 obsolete morphological anomaly -MONDO:0011517 pseudohyperaldosteronism type 2 MONDO:0015512 Orphanet:88660 Orphanet:156629 obsolete genetic hypertension -MONDO:0011517 pseudohyperaldosteronism type 2 MONDO:0015582 Orphanet:88660 Orphanet:163637 obsolete rare disorder related with pregnancy, childbirth and puerperium -MONDO:0011518 Wiedemann-Steiner syndrome MONDO:0035863 Orphanet:319182 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0011518 Wiedemann-Steiner syndrome MONDO:8000032 Orphanet:319182 Orphanet:377789 obsolete malformation syndrome -MONDO:0011522 hereditary spastic paraplegia 14 MONDO:0017915 Orphanet:100995 Orphanet:320346 obsolete pure or complex autosomal recessive spastic paraplegia -MONDO:0011528 hyper-IgM syndrome type 2 MONDO:0015976 Orphanet:101089 Orphanet:183666 obsolete hyper-IgM syndrome without susceptibility to opportunistic infections -MONDO:0011528 hyper-IgM syndrome type 2 MONDO:8000031 Orphanet:101089 Orphanet:557494 obsolete subtype of a disorder -MONDO:0011530 mesomelic dysplasia, Savarirayan type MONDO:0019697 Orphanet:85170 Orphanet:93438 obsolete mesomelic and rhizo-mesomelic dysplasia -MONDO:0011530 mesomelic dysplasia, Savarirayan type MONDO:8000032 Orphanet:85170 Orphanet:377789 obsolete malformation syndrome -MONDO:0011532 hereditary spastic paraplegia 13 MONDO:0017914 Orphanet:100994 Orphanet:320342 obsolete pure or complex autosomal dominant spastic paraplegia -MONDO:0011533 temtamy preaxial brachydactyly syndrome MONDO:0015336 Orphanet:363417 Orphanet:139042 obsolete malformation syndrome with odontal and/or periodontal component -MONDO:0011533 temtamy preaxial brachydactyly syndrome MONDO:0017742 Orphanet:363417 Orphanet:309450 obsolete disorder of O-xylosylglycan synthesis -MONDO:0011533 temtamy preaxial brachydactyly syndrome MONDO:0018284 Orphanet:363417 Orphanet:371047 obsolete congenital disorder of glycosylation with neurological involvement -MONDO:0011533 temtamy preaxial brachydactyly syndrome MONDO:0018292 Orphanet:363417 Orphanet:371195 obsolete congenital disorder of glycosylation-related bone disorder -MONDO:0011533 temtamy preaxial brachydactyly syndrome MONDO:0018295 Orphanet:363417 Orphanet:371212 obsolete congenital disorder of glycosylation with deafness as a major feature -MONDO:0011533 temtamy preaxial brachydactyly syndrome MONDO:0035862 Orphanet:363417 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome -MONDO:0011533 temtamy preaxial brachydactyly syndrome MONDO:0800094 Orphanet:363417 Orphanet:498454 obsolete dysostosis with brachydactyly with extraskeletal manifestations -MONDO:0011533 temtamy preaxial brachydactyly syndrome MONDO:8000032 Orphanet:363417 Orphanet:377789 obsolete malformation syndrome -MONDO:0011537 macrocephaly-autism syndrome MONDO:0015878 Orphanet:210548 Orphanet:180772 obsolete rare disease with autism -MONDO:0011537 macrocephaly-autism syndrome MONDO:0017120 Orphanet:210548 Orphanet:269531 obsolete other syndrome with a central nervous system malformation as major feature -MONDO:0011537 macrocephaly-autism syndrome MONDO:0035863 Orphanet:210548 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0011539 nemaline myopathy 5 MONDO:0017302 Orphanet:98902 Orphanet:284786 obsolete qualitative or quantitative defects of troponin -MONDO:0011539 nemaline myopathy 5 MONDO:0018701 Orphanet:98902 Orphanet:457074 obsolete congenital nemaline myopathy -MONDO:0011540 spinocerebellar ataxia type 14 MONDO:0035862 Orphanet:98763 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome -MONDO:0011541 dilated cardiomyopathy 1J MONDO:0016337 Orphanet:217622 Orphanet:217619 obsolete syndrome associated with dilated cardiomyopathy -MONDO:0011551 TH-deficient dopa-responsive dystonia MONDO:0035862 Orphanet:101150 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome -MONDO:0011555 radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome MONDO:0800095 Orphanet:71289 Orphanet:93459 obsolete syndrome with synostosis or other joint formation defect -MONDO:0011555 radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome MONDO:8000032 Orphanet:71289 Orphanet:377789 obsolete malformation syndrome -MONDO:0011559 benign recurrent intrahepatic cholestasis type 2 MONDO:8000031 Orphanet:99961 Orphanet:557494 obsolete subtype of a disorder -MONDO:0011569 Charcot-Marie-Tooth disease type 2B1 MONDO:0019601 Orphanet:98856 Orphanet:91024 obsolete autosomal recessive axonal hereditary motor and sensory neuropathy -MONDO:0011569 Charcot-Marie-Tooth disease type 2B1 MONDO:0029811 Orphanet:98856 Orphanet:300758 obsolete laminopathy with peripheral neuropathy -MONDO:0011570 Charcot-Marie-Tooth disease type 2B2 MONDO:0019601 Orphanet:101101 Orphanet:91024 obsolete autosomal recessive axonal hereditary motor and sensory neuropathy -MONDO:0011575 cerebrooculonasal syndrome MONDO:0017120 Orphanet:66625 Orphanet:269531 obsolete other syndrome with a central nervous system malformation as major feature -MONDO:0011575 cerebrooculonasal syndrome MONDO:0035863 Orphanet:66625 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0011575 cerebrooculonasal syndrome MONDO:8000032 Orphanet:66625 Orphanet:377789 obsolete malformation syndrome -MONDO:0011576 familial hyperaldosteronism type II MONDO:0025511 Orphanet:404 Orphanet:271847 obsolete inherited neuroendocrine tumor -MONDO:0011578 familial papillary thyroid carcinoma with renal papillary neoplasia MONDO:0017891 Orphanet:97290 Orphanet:319328 obsolete inherited renal cancer-predisposing syndrome -MONDO:0011581 arrhythmogenic cardiomyopathy with wooly hair and keratoderma MONDO:0016337 Orphanet:65282 Orphanet:217619 obsolete syndrome associated with dilated cardiomyopathy -MONDO:0011581 arrhythmogenic cardiomyopathy with wooly hair and keratoderma MONDO:0018558 Orphanet:65282 Orphanet:434809 obsolete syndrome with wooly hair -MONDO:0011581 arrhythmogenic cardiomyopathy with wooly hair and keratoderma MONDO:0020014 Orphanet:65282 Orphanet:98027 obsolete rare disease with odontological manifestation -MONDO:0011581 arrhythmogenic cardiomyopathy with wooly hair and keratoderma MONDO:0020097 Orphanet:65282 Orphanet:98357 obsolete autosomal recessive disease with focal palmoplantar keratoderma as a major feature -MONDO:0011584 Fanconi anemia complementation group D1 MONDO:0017891 Orphanet:319462 Orphanet:319328 obsolete inherited renal cancer-predisposing syndrome -MONDO:0011599 birdshot chorioretinopathy MONDO:0019541 Orphanet:179 Orphanet:90061 obsolete non-infectious posterior uveitis -MONDO:0011603 GNE myopathy MONDO:0016109 Orphanet:602 Orphanet:206653 obsolete autosomal recessive distal myopathy -MONDO:0011603 GNE myopathy MONDO:0016200 Orphanet:602 Orphanet:209203 obsolete qualitative or quantitative defects of glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase -MONDO:0011603 GNE myopathy MONDO:0018284 Orphanet:602 Orphanet:371047 obsolete congenital disorder of glycosylation with neurological involvement -MONDO:0011604 spondylo-ocular syndrome MONDO:0019704 Orphanet:85194 Orphanet:93446 obsolete primary bone dysplasia with decreased bone density -MONDO:0011604 spondylo-ocular syndrome MONDO:0020225 Orphanet:85194 Orphanet:98641 obsolete syndromic cataract -MONDO:0011604 spondylo-ocular syndrome MONDO:0034954 Orphanet:85194 Orphanet:519327 obsolete syndromic vitreoretinopathy -MONDO:0011604 spondylo-ocular syndrome MONDO:0035863 Orphanet:85194 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0011604 spondylo-ocular syndrome MONDO:8000032 Orphanet:85194 Orphanet:377789 obsolete malformation syndrome -MONDO:0011605 generalized basaloid follicular hamartoma syndrome MONDO:0015950 Orphanet:168632 Orphanet:183487 obsolete inherited skin tumor -MONDO:0011605 generalized basaloid follicular hamartoma syndrome MONDO:0019300 Orphanet:168632 Orphanet:79386 obsolete rare skin tumor or hamartoma -MONDO:0011612 glycine encephalopathy MONDO:0016399 Orphanet:407 Orphanet:225689 obsolete amino acid or protein metabolism disease with epilepsy -MONDO:0011612 glycine encephalopathy MONDO:0019058 Orphanet:407 Orphanet:68385 obsolete neurometabolic disease -MONDO:0011612 glycine encephalopathy MONDO:0035862 Orphanet:407 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome -MONDO:0011615 East Texas bleeding disorder MONDO:8000031 Orphanet:391320 Orphanet:557494 obsolete subtype of a disorder -MONDO:0011620 metaphyseal dysplasia, Braun-Tinschert type MONDO:0800084 Orphanet:85188 Orphanet:93444 obsolete primary bone dysplasia with increased bone density -MONDO:0011620 metaphyseal dysplasia, Braun-Tinschert type MONDO:8000032 Orphanet:85188 Orphanet:377789 obsolete malformation syndrome -MONDO:0011621 acropectoral syndrome MONDO:0017434 Orphanet:85203 Orphanet:294959 obsolete syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy -MONDO:0011621 acropectoral syndrome MONDO:8000032 Orphanet:85203 Orphanet:377789 obsolete malformation syndrome -MONDO:0011629 MOGS-congenital disorder of glycosylation MONDO:0018287 Orphanet:79330 Orphanet:371071 obsolete congenital disorder of glycosylation with epilepsy as a major feature -MONDO:0011629 MOGS-congenital disorder of glycosylation MONDO:0018288 Orphanet:79330 Orphanet:371157 obsolete congenital disorder of glycosylation with hepatic involvement -MONDO:0011629 MOGS-congenital disorder of glycosylation MONDO:0035862 Orphanet:79330 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome -MONDO:0011631 hemochromatosis type 4 MONDO:0015115 Orphanet:648562 Orphanet:101940 obsolete rare genetic metabolic liver disease -MONDO:0011640 genitopatellar syndrome MONDO:0036042 Orphanet:85201 Orphanet:597749 obsolete KAT6B-related multiple congenital anomalies syndrome -MONDO:0011640 genitopatellar syndrome MONDO:8000032 Orphanet:85201 Orphanet:377789 obsolete malformation syndrome -MONDO:0011652 Phelan-McDermid syndrome MONDO:0035471 Orphanet:48652 Orphanet:568047 obsolete disorder with multisystemic involvement and primary lymphedema -MONDO:0011652 Phelan-McDermid syndrome MONDO:0035863 Orphanet:48652 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0011652 Phelan-McDermid syndrome MONDO:8000032 Orphanet:48652 Orphanet:377789 obsolete malformation syndrome -MONDO:0011664 immunodeficiency due to CD25 deficiency MONDO:0015709 Orphanet:169100 Orphanet:169355 obsolete immunodeficiency syndrome with autoimmunity -MONDO:0011669 hypotonia-cystinuria syndrome MONDO:0018246 Orphanet:238517 Orphanet:369886 obsolete homozygous 2p21 microdeletion syndrome -MONDO:0011669 hypotonia-cystinuria syndrome MONDO:0019744 Orphanet:238517 Orphanet:93603 obsolete rare renal tubular disease -MONDO:0011670 Ehlers-Danlos syndrome due to tenascin-X deficiency MONDO:0015216 Orphanet:230839 Orphanet:108979 obsolete syndromic diaphragmatic or abdominal wall malformation -MONDO:0011670 Ehlers-Danlos syndrome due to tenascin-X deficiency MONDO:0015669 Orphanet:230839 Orphanet:167762 obsolete rare disease with dentinogenesis imperfecta -MONDO:0011670 Ehlers-Danlos syndrome due to tenascin-X deficiency MONDO:0015880 Orphanet:230839 Orphanet:180779 obsolete syndromic diaphragmatic or thoracic malformation -MONDO:0011676 PHACE syndrome MONDO:0015145 Orphanet:42775 Orphanet:102006 obsolete neurovascular malformation -MONDO:0011676 PHACE syndrome MONDO:0015506 Orphanet:42775 Orphanet:156532 obsolete rare syndrome with cardiac malformations -MONDO:0011676 PHACE syndrome MONDO:0017118 Orphanet:42775 Orphanet:269523 obsolete syndrome with a cerebellar malformation as major feature -MONDO:0011676 PHACE syndrome MONDO:0018718 Orphanet:42775 Orphanet:458827 obsolete vascular tumor with associated anomalies -MONDO:0011676 PHACE syndrome MONDO:0018729 Orphanet:42775 Orphanet:459543 obsolete genetic vascular tumor -MONDO:0011676 PHACE syndrome MONDO:0018792 Orphanet:42775 Orphanet:477771 obsolete Moyamoya syndrome -MONDO:0011676 PHACE syndrome MONDO:0031949 Orphanet:42775 Orphanet:371436 obsolete genetic neurovascular malformation -MONDO:0011676 PHACE syndrome MONDO:0035863 Orphanet:42775 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0011676 PHACE syndrome MONDO:8000032 Orphanet:42775 Orphanet:377789 obsolete malformation syndrome -MONDO:0011683 oculocutaneous albinism type 4 MONDO:0020253 Orphanet:79435 Orphanet:98683 obsolete syndrome with a symptomatic strabismus -MONDO:0011686 DNA ligase IV deficiency MONDO:0015945 Orphanet:99812 Orphanet:183422 obsolete polymalformative genetic syndrome with increased risk of developing cancer -MONDO:0011686 DNA ligase IV deficiency MONDO:0035863 Orphanet:99812 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0011706 Kufor-Rakeb syndrome MONDO:0034901 Orphanet:306674 Orphanet:514980 obsolete ATP13A2-related parkinsonism -MONDO:0011719 gastrointestinal stromal tumor MONDO:0017128 Orphanet:44890 Orphanet:271835 obsolete inherited digestive tract tumor -MONDO:0011721 distal myopathy with anterior tibial onset MONDO:0016109 Orphanet:178400 Orphanet:206653 obsolete autosomal recessive distal myopathy -MONDO:0011722 intellectual disability-obesity-prognathism-eye and skin anomalies syndrome MONDO:0016565 Orphanet:397973 Orphanet:240371 obsolete syndromic genetic obesity -MONDO:0011722 intellectual disability-obesity-prognathism-eye and skin anomalies syndrome MONDO:0035863 Orphanet:397973 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0011723 hemifacial myohyperplasia MONDO:8000032 Orphanet:141148 Orphanet:377789 obsolete malformation syndrome -MONDO:0011724 encephalopathy due to GLUT1 deficiency MONDO:0016406 Orphanet:71277 Orphanet:225713 obsolete other metabolic disease with epilepsy -MONDO:0011724 encephalopathy due to GLUT1 deficiency MONDO:0019058 Orphanet:71277 Orphanet:68385 obsolete neurometabolic disease -MONDO:0011725 Crigler-Najjar syndrome type 2 MONDO:8000031 Orphanet:79235 Orphanet:557494 obsolete subtype of a disorder -MONDO:0011730 fumaric aciduria MONDO:0016402 Orphanet:24 Orphanet:225700 obsolete mitochondrial disease with epilepsy -MONDO:0011730 fumaric aciduria MONDO:0016403 Orphanet:24 Orphanet:225703 obsolete mitochondrial disease with peripheral neuropathy -MONDO:0011730 fumaric aciduria MONDO:0019058 Orphanet:24 Orphanet:68385 obsolete neurometabolic disease -MONDO:0011731 glucose-galactose malabsorption MONDO:0015178 Orphanet:35710 Orphanet:104003 obsolete congenital intestinal transport defect -MONDO:0011732 familial digital arthropathy-brachydactyly MONDO:0800093 Orphanet:85169 Orphanet:498451 obsolete dysostosis with brachydactyly without extraskeletal manifestations -MONDO:0011732 familial digital arthropathy-brachydactyly MONDO:8000032 Orphanet:85169 Orphanet:377789 obsolete malformation syndrome -MONDO:0011735 hyper-IgM syndrome type 3 MONDO:0015975 Orphanet:101090 Orphanet:183663 obsolete hyper-IgM syndrome with susceptibility to opportunistic infections -MONDO:0011735 hyper-IgM syndrome type 3 MONDO:8000031 Orphanet:101090 Orphanet:557494 obsolete subtype of a disorder -MONDO:0011738 bilateral frontoparietal polymicrogyria MONDO:8000031 Orphanet:101070 Orphanet:557494 obsolete subtype of a disorder -MONDO:0011744 primary intraosseous venous malformation MONDO:0016524 Orphanet:140436 Orphanet:235832 obsolete congenital vascular bone syndrome -MONDO:0011749 oculocutaneous albinism type 1B MONDO:0020253 Orphanet:79434 Orphanet:98683 obsolete syndrome with a symptomatic strabismus -MONDO:0011749 oculocutaneous albinism type 1B MONDO:8000031 Orphanet:79434 Orphanet:557494 obsolete subtype of a disorder -MONDO:0011758 Hurler syndrome MONDO:0016326 Orphanet:93473 Orphanet:217581 obsolete lysosomal disease with hypertrophic cardiomyopathy -MONDO:0011758 Hurler syndrome MONDO:0016341 Orphanet:93473 Orphanet:217638 obsolete lysosomal disease with restrictive cardiomyopathy -MONDO:0011758 Hurler syndrome MONDO:0035863 Orphanet:93473 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0011758 Hurler syndrome MONDO:8000031 Orphanet:93473 Orphanet:557494 obsolete subtype of a disorder -MONDO:0011759 Hurler-Scheie syndrome MONDO:0016326 Orphanet:93476 Orphanet:217581 obsolete lysosomal disease with hypertrophic cardiomyopathy -MONDO:0011759 Hurler-Scheie syndrome MONDO:8000031 Orphanet:93476 Orphanet:557494 obsolete subtype of a disorder -MONDO:0011760 Scheie syndrome MONDO:8000031 Orphanet:93474 Orphanet:557494 obsolete subtype of a disorder -MONDO:0011766 46,XY gonadal dysgenesis-motor and sensory neuropathy syndrome MONDO:0017978 Orphanet:168563 Orphanet:325638 obsolete syndrome with disorder of sex development of gynecological interest -MONDO:0011766 46,XY gonadal dysgenesis-motor and sensory neuropathy syndrome MONDO:0020042 Orphanet:168563 Orphanet:98087 obsolete syndrome with 46,XY disorder of sex development -MONDO:0011766 46,XY gonadal dysgenesis-motor and sensory neuropathy syndrome MONDO:8000032 Orphanet:168563 Orphanet:377789 obsolete malformation syndrome -MONDO:0011772 B4GALT1-congenital disorder of glycosylation MONDO:0017121 Orphanet:79332 Orphanet:269546 obsolete syndrome with a Dandy-Walker malformation as major feature -MONDO:0011772 B4GALT1-congenital disorder of glycosylation MONDO:0018284 Orphanet:79332 Orphanet:371047 obsolete congenital disorder of glycosylation with neurological involvement -MONDO:0011772 B4GALT1-congenital disorder of glycosylation MONDO:0018288 Orphanet:79332 Orphanet:371157 obsolete congenital disorder of glycosylation with hepatic involvement -MONDO:0011772 B4GALT1-congenital disorder of glycosylation MONDO:0018296 Orphanet:79332 Orphanet:371235 obsolete congenital disorder of glycosylation with developmental anomaly -MONDO:0011776 CINCA syndrome MONDO:0017259 Orphanet:1451 Orphanet:280926 obsolete systemic diseases with anterior uveitis -MONDO:0011776 CINCA syndrome MONDO:0035862 Orphanet:1451 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome -MONDO:0011776 CINCA syndrome MONDO:0800092 Orphanet:1451 Orphanet:498445 obsolete hereditary inflammatory or rheumatoid-like osteoarthropathy -MONDO:0011781 spinocerebellar ataxia type 17 MONDO:0017641 Orphanet:98759 Orphanet:306695 obsolete miscellaneous movement disorder due to neurodegenerative disease -MONDO:0011781 spinocerebellar ataxia type 17 MONDO:0017662 Orphanet:98759 Orphanet:307058 obsolete miscellaneous movement disorder due to genetic neurodegenerative disease -MONDO:0011783 ALG12-congenital disorder of glycosylation MONDO:0018284 Orphanet:79324 Orphanet:371047 obsolete congenital disorder of glycosylation with neurological involvement -MONDO:0011783 ALG12-congenital disorder of glycosylation MONDO:0035862 Orphanet:79324 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome -MONDO:0011785 hereditary spastic paraplegia 19 MONDO:0015088 Orphanet:100999 Orphanet:100980 obsolete autosomal dominant pure spastic paraplegia -MONDO:0011787 autosomal recessive limb-girdle muscular dystrophy type 2I MONDO:0017745 Orphanet:34515 Orphanet:309469 obsolete disorder of O-mannosylglycan synthesis -MONDO:0011787 autosomal recessive limb-girdle muscular dystrophy type 2I MONDO:0018284 Orphanet:34515 Orphanet:371047 obsolete congenital disorder of glycosylation with neurological involvement -MONDO:0011788 cloverleaf skull-multiple congenital anomalies syndrome MONDO:0020225 Orphanet:93267 Orphanet:98641 obsolete syndromic cataract -MONDO:0011788 cloverleaf skull-multiple congenital anomalies syndrome MONDO:8000032 Orphanet:93267 Orphanet:377789 obsolete malformation syndrome -MONDO:0011790 Amish lethal microcephaly MONDO:0017119 Orphanet:99742 Orphanet:269528 obsolete syndrome with microcephaly as major feature -MONDO:0011790 Amish lethal microcephaly MONDO:8000032 Orphanet:99742 Orphanet:377789 obsolete malformation syndrome MONDO:0011794 obsolete Dravet syndrome MONDO:0000001 Orphanet:33069 Orphanet:377788 disease -MONDO:0011794 obsolete Dravet syndrome MONDO:0015922 Orphanet:33069 Orphanet:182083 obsolete channelopathy with epilepsy -MONDO:0011794 obsolete Dravet syndrome MONDO:0020071 Orphanet:33069 Orphanet:98258 infantile epilepsy syndrome -MONDO:0011794 obsolete Dravet syndrome MONDO:0035862 Orphanet:33069 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome -MONDO:0011795 anonychia-microcephaly syndrome MONDO:0043008 Orphanet:1094 Orphanet:330206 obsolete genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability -MONDO:0011795 anonychia-microcephaly syndrome MONDO:8000032 Orphanet:1094 Orphanet:377789 obsolete malformation syndrome -MONDO:0011801 spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1 MONDO:0020045 Orphanet:94124 Orphanet:98097 obsolete autosomal recessive cerebellar ataxia due to a DNA repair defect -MONDO:0011803 hereditary spastic paraplegia 7 MONDO:0017914 Orphanet:99013 Orphanet:320342 obsolete pure or complex autosomal dominant spastic paraplegia -MONDO:0011803 hereditary spastic paraplegia 7 MONDO:0017915 Orphanet:99013 Orphanet:320346 obsolete pure or complex autosomal recessive spastic paraplegia -MONDO:0011803 hereditary spastic paraplegia 7 MONDO:0018157 Orphanet:99013 Orphanet:35696 obsolete mitochondrial disorder due to a defect in mitochondrial protein synthesis -MONDO:0011803 hereditary spastic paraplegia 7 MONDO:0018609 Orphanet:99013 Orphanet:441434 obsolete syndromic hereditary optic neuropathy -MONDO:0011804 autoimmune lymphoproliferative syndrome type 2B MONDO:0015709 Orphanet:275517 Orphanet:169355 obsolete immunodeficiency syndrome with autoimmunity -MONDO:0011810 horizontal gaze palsy with progressive scoliosis MONDO:0017120 Orphanet:2744 Orphanet:269531 obsolete other syndrome with a central nervous system malformation as major feature -MONDO:0011810 horizontal gaze palsy with progressive scoliosis MONDO:0020253 Orphanet:2744 Orphanet:98683 obsolete syndrome with a symptomatic strabismus -MONDO:0011812 Duane-radial ray syndrome MONDO:0015246 Orphanet:93293 Orphanet:117573 obsolete syndromic anorectal malformation -MONDO:0011812 Duane-radial ray syndrome MONDO:0017432 Orphanet:93293 Orphanet:294955 obsolete syndrome with limb reduction defects -MONDO:0011812 Duane-radial ray syndrome MONDO:0020253 Orphanet:93293 Orphanet:98683 obsolete syndrome with a symptomatic strabismus -MONDO:0011812 Duane-radial ray syndrome MONDO:0043008 Orphanet:959 Orphanet:330206 obsolete genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability -MONDO:0011812 Duane-radial ray syndrome MONDO:8000032 Orphanet:93293 Orphanet:377789 obsolete malformation syndrome -MONDO:0011812 Duane-radial ray syndrome MONDO:8000032 Orphanet:959 Orphanet:377789 obsolete malformation syndrome -MONDO:0011816 lathosterolosis MONDO:0020228 Orphanet:46059 Orphanet:98644 obsolete cataract associated with a metabolic disease -MONDO:0011816 lathosterolosis MONDO:0035863 Orphanet:46059 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0011818 isolated focal cortical dysplasia type II MONDO:8000031 Orphanet:268994 Orphanet:557494 obsolete subtype of a disorder -MONDO:0011822 Bartter disease type 3 MONDO:8000031 Orphanet:93605 Orphanet:557494 obsolete subtype of a disorder -MONDO:0011823 developmental malformations-deafness-dystonia syndrome MONDO:0018265 Orphanet:79107 Orphanet:370106 obsolete rare disorder with dystonia and other neurologic or systemic manifestation -MONDO:0011823 developmental malformations-deafness-dystonia syndrome MONDO:0019589 Orphanet:79107 Orphanet:90642 obsolete syndromic genetic hearing loss -MONDO:0011823 developmental malformations-deafness-dystonia syndrome MONDO:0020225 Orphanet:79107 Orphanet:98641 obsolete syndromic cataract -MONDO:0011823 developmental malformations-deafness-dystonia syndrome MONDO:0043008 Orphanet:79107 Orphanet:330206 obsolete genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability -MONDO:0011823 developmental malformations-deafness-dystonia syndrome MONDO:8000032 Orphanet:79107 Orphanet:377789 obsolete malformation syndrome -MONDO:0011833 spinocerebellar ataxia type 21 MONDO:0035862 Orphanet:98773 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome -MONDO:0011835 sensory ataxic neuropathy, dysarthria, and ophthalmoparesis MONDO:0016402 Orphanet:70595 Orphanet:225700 obsolete mitochondrial disease with epilepsy -MONDO:0011835 sensory ataxic neuropathy, dysarthria, and ophthalmoparesis MONDO:0016403 Orphanet:70595 Orphanet:225703 obsolete mitochondrial disease with peripheral neuropathy -MONDO:0011841 biotin-responsive basal ganglia disease MONDO:0019058 Orphanet:65284 Orphanet:68385 obsolete neurometabolic disease -MONDO:0011862 hereditary spastic paraplegia 24 MONDO:0015090 Orphanet:101004 Orphanet:100982 obsolete autosomal recessive pure spastic paraplegia -MONDO:0011868 lethal congenital contracture syndrome 2 MONDO:0043008 Orphanet:137776 Orphanet:330206 obsolete genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability -MONDO:0011868 lethal congenital contracture syndrome 2 MONDO:8000032 Orphanet:137776 Orphanet:377789 obsolete malformation syndrome -MONDO:0011871 Niemann-Pick disease type B MONDO:0016133 Orphanet:77293 Orphanet:207018 obsolete rare hereditary metabolic disease with peripheral neuropathy -MONDO:0011871 Niemann-Pick disease type B MONDO:0018799 Orphanet:77293 Orphanet:477811 obsolete rare hypercholesterolemia -MONDO:0011871 Niemann-Pick disease type B MONDO:0035862 Orphanet:77293 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome -MONDO:0011872 Griscelli syndrome type 2 MONDO:0018032 Orphanet:79477 Orphanet:331184 obsolete constitutional neutropenia with extra-hematopoietic manifestations -MONDO:0011872 Griscelli syndrome type 2 MONDO:0018042 Orphanet:79477 Orphanet:331249 obsolete immunodeficiency syndrome with abnormal pigmentation -MONDO:0011872 Griscelli syndrome type 2 MONDO:0019305 Orphanet:79477 Orphanet:79391 obsolete immune deficiency with skin involvement -MONDO:0011872 Griscelli syndrome type 2 MONDO:0026166 Orphanet:79477 Orphanet:183494 obsolete genetic immune deficiency with skin involvement -MONDO:0011872 Griscelli syndrome type 2 MONDO:8000031 Orphanet:79477 Orphanet:557494 obsolete subtype of a disorder -MONDO:0011874 neonatal ichthyosis-sclerosing cholangitis syndrome MONDO:0015509 Orphanet:59303 Orphanet:156607 obsolete hereditary biliary tract disease -MONDO:0011874 neonatal ichthyosis-sclerosing cholangitis syndrome MONDO:0017271 Orphanet:59303 Orphanet:281222 obsolete autosomal ichthyosis syndrome with prominent hair abnormalities -MONDO:0011877 autosomal dominant osteopetrosis 1 MONDO:8000032 Orphanet:2783 Orphanet:377789 obsolete malformation syndrome -MONDO:0011882 skin fragility-woolly hair-palmoplantar keratoderma syndrome MONDO:0017671 Orphanet:293165 Orphanet:307804 obsolete autosomal recessive disease with diffuse palmoplantar keratoderma as a major feature -MONDO:0011882 skin fragility-woolly hair-palmoplantar keratoderma syndrome MONDO:0018558 Orphanet:293165 Orphanet:434809 obsolete syndrome with wooly hair -MONDO:0011883 Curly hair - acral keratoderma - caries syndrome MONDO:0015336 Orphanet:307766 Orphanet:139042 obsolete malformation syndrome with odontal and/or periodontal component -MONDO:0011883 Curly hair - acral keratoderma - caries syndrome MONDO:0020094 Orphanet:307766 Orphanet:98352 obsolete autosomal dominant disease with diffuse palmoplantar keratoderma as a major feature -MONDO:0011884 hypotrichosis-osteolysis-periodontitis-palmoplantar keratoderma syndrome MONDO:0015336 Orphanet:307936 Orphanet:139042 obsolete malformation syndrome with odontal and/or periodontal component -MONDO:0011884 hypotrichosis-osteolysis-periodontitis-palmoplantar keratoderma syndrome MONDO:0020095 Orphanet:307936 Orphanet:98353 obsolete autosomal dominant disease associated with focal palmoplantar keratoderma as a major feature -MONDO:0011885 tubulointerstitial nephritis and uveitis syndrome MONDO:0017259 Orphanet:91500 Orphanet:280926 obsolete systemic diseases with anterior uveitis -MONDO:0011885 tubulointerstitial nephritis and uveitis syndrome MONDO:0019744 Orphanet:91500 Orphanet:93603 obsolete rare renal tubular disease -MONDO:0011897 leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome MONDO:0017333 Orphanet:137639 Orphanet:289494 obsolete hypomyelinating leukodystrophy with or without oligondontia and/or hypogonadism -MONDO:0011897 leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome MONDO:8000031 Orphanet:137639 Orphanet:557494 obsolete subtype of a disorder -MONDO:0011899 Noonan syndrome-like disorder with loose anagen hair MONDO:0020167 Orphanet:2701 Orphanet:98576 obsolete malposition of external canthus -MONDO:0011899 Noonan syndrome-like disorder with loose anagen hair MONDO:0021034 Orphanet:2701 Orphanet:481771 obsolete hereditary alopecia -MONDO:0011899 Noonan syndrome-like disorder with loose anagen hair MONDO:0026989 Orphanet:2701 Orphanet:217595 obsolete syndrome associated with hypertrophic cardiomyopathy -MONDO:0011899 Noonan syndrome-like disorder with loose anagen hair MONDO:0035863 Orphanet:2701 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0011899 Noonan syndrome-like disorder with loose anagen hair MONDO:8000032 Orphanet:2701 Orphanet:377789 obsolete malformation syndrome -MONDO:0011901 Charcot-Marie-Tooth disease axonal type 2H MONDO:0019601 Orphanet:101102 Orphanet:91024 obsolete autosomal recessive axonal hereditary motor and sensory neuropathy -MONDO:0011904 seizures, benign familial infantile, 3 MONDO:0015654 Orphanet:140927 Orphanet:166475 obsolete idiopathic or cryptogenic familial epilepsy syndrome with identified loci/genes -MONDO:0011907 acrocapitofemoral dysplasia MONDO:8000032 Orphanet:63446 Orphanet:377789 obsolete malformation syndrome -MONDO:0011911 craniolenticulosutural dysplasia MONDO:0020225 Orphanet:50814 Orphanet:98641 obsolete syndromic cataract -MONDO:0011911 craniolenticulosutural dysplasia MONDO:0043008 Orphanet:50814 Orphanet:330206 obsolete genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability -MONDO:0011911 craniolenticulosutural dysplasia MONDO:8000032 Orphanet:50814 Orphanet:377789 obsolete malformation syndrome -MONDO:0011916 Charcot-Marie-Tooth disease axonal type 2K MONDO:0019601 Orphanet:101097 Orphanet:91024 obsolete autosomal recessive axonal hereditary motor and sensory neuropathy -MONDO:0011922 nonimmune chronic idiopathic neutropenia of adults MONDO:0015822 Orphanet:2688 Orphanet:178996 obsolete acquired neutropenia -MONDO:0011925 congenital merosin-deficient muscular dystrophy 1A MONDO:0016149 Orphanet:258 Orphanet:207094 obsolete qualitative or quantitative defects of merosin -MONDO:0011925 congenital merosin-deficient muscular dystrophy 1A MONDO:0035862 Orphanet:258 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome -MONDO:0011925 congenital merosin-deficient muscular dystrophy 1A MONDO:8000032 Orphanet:258 Orphanet:377789 obsolete malformation syndrome -MONDO:0011927 tufted angioma MONDO:0016228 Orphanet:1063 Orphanet:211237 obsolete rare vascular tumor -MONDO:0011927 tufted angioma MONDO:0018729 Orphanet:1063 Orphanet:459543 obsolete genetic vascular tumor -MONDO:0011928 caudal duplication MONDO:0015246 Orphanet:1756 Orphanet:117573 obsolete syndromic anorectal malformation -MONDO:0011928 caudal duplication MONDO:0017120 Orphanet:1756 Orphanet:269531 obsolete other syndrome with a central nervous system malformation as major feature -MONDO:0011928 caudal duplication MONDO:8000032 Orphanet:1756 Orphanet:377789 obsolete malformation syndrome -MONDO:0011929 chromosome 1p36 deletion syndrome MONDO:0015652 Orphanet:1606 Orphanet:166469 obsolete chromosomal anomaly with epilepsy as a major feature -MONDO:0011929 chromosome 1p36 deletion syndrome MONDO:0016337 Orphanet:1606 Orphanet:217619 obsolete syndrome associated with dilated cardiomyopathy -MONDO:0011929 chromosome 1p36 deletion syndrome MONDO:8000032 Orphanet:1606 Orphanet:377789 obsolete malformation syndrome -MONDO:0011933 ALG2-congenital disorder of glycosylation MONDO:0018287 Orphanet:79326 Orphanet:371071 obsolete congenital disorder of glycosylation with epilepsy as a major feature -MONDO:0011933 ALG2-congenital disorder of glycosylation MONDO:0018288 Orphanet:79326 Orphanet:371157 obsolete congenital disorder of glycosylation with hepatic involvement -MONDO:0011933 ALG2-congenital disorder of glycosylation MONDO:0020228 Orphanet:79326 Orphanet:98644 obsolete cataract associated with a metabolic disease -MONDO:0011933 ALG2-congenital disorder of glycosylation MONDO:0035862 Orphanet:79326 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome -MONDO:0011934 dermatofibrosarcoma protuberans MONDO:0015950 Orphanet:31112 Orphanet:183487 obsolete inherited skin tumor -MONDO:0011934 dermatofibrosarcoma protuberans MONDO:0017127 Orphanet:31112 Orphanet:271832 obsolete inherited soft tissue tumor -MONDO:0011934 dermatofibrosarcoma protuberans MONDO:0019300 Orphanet:31112 Orphanet:79386 obsolete rare skin tumor or hamartoma -MONDO:0011936 microphthalmia with brain and digit anomalies MONDO:0020225 Orphanet:139471 Orphanet:98641 obsolete syndromic cataract -MONDO:0011936 microphthalmia with brain and digit anomalies MONDO:0035863 Orphanet:139471 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0011936 microphthalmia with brain and digit anomalies MONDO:8000032 Orphanet:139471 Orphanet:377789 obsolete malformation syndrome -MONDO:0011939 Spondyloenchondrodysplasia with immune dysregulation MONDO:0015709 Orphanet:1855 Orphanet:169355 obsolete immunodeficiency syndrome with autoimmunity -MONDO:0011939 Spondyloenchondrodysplasia with immune dysregulation MONDO:0018782 Orphanet:1855 Orphanet:477647 obsolete type 1 interferonopathy -MONDO:0011939 Spondyloenchondrodysplasia with immune dysregulation MONDO:8000032 Orphanet:1855 Orphanet:377789 obsolete malformation syndrome -MONDO:0011945 Gaucher disease perinatal lethal MONDO:0017273 Orphanet:85212 Orphanet:281241 obsolete autosomal ichthyosis syndrome with fatal disease course -MONDO:0011945 Gaucher disease perinatal lethal MONDO:8000031 Orphanet:85212 Orphanet:557494 obsolete subtype of a disorder -MONDO:0011946 diaphanospondylodysostosis MONDO:0019711 Orphanet:66637 Orphanet:93454 obsolete dysostosis with predominant vertebral and costal involvement -MONDO:0011946 diaphanospondylodysostosis MONDO:8000032 Orphanet:66637 Orphanet:377789 obsolete malformation syndrome -MONDO:0011948 pontocerebellar hypoplasia type 3 MONDO:0018609 Orphanet:97249 Orphanet:441434 obsolete syndromic hereditary optic neuropathy -MONDO:0011948 pontocerebellar hypoplasia type 3 MONDO:8000032 Orphanet:97249 Orphanet:377789 obsolete malformation syndrome -MONDO:0011953 familial acute necrotizing encephalopathy MONDO:0035862 Orphanet:88619 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome -MONDO:0011959 sweet syndrome MONDO:0017370 Orphanet:3243 Orphanet:290842 obsolete autoinflammatory syndrome with skin involvement -MONDO:0011959 sweet syndrome MONDO:0017954 Orphanet:3243 Orphanet:324927 obsolete pyogenic autoinflammatory syndrome -MONDO:0011961 hereditary sensory and autonomic neuropathy type 1B MONDO:0015365 Orphanet:139564 Orphanet:140474 obsolete autosomal dominant hereditary sensory and autonomic neuropathy -MONDO:0011964 DPAGT1-congenital disorder of glycosylation MONDO:0018287 Orphanet:86309 Orphanet:371071 obsolete congenital disorder of glycosylation with epilepsy as a major feature -MONDO:0011964 DPAGT1-congenital disorder of glycosylation MONDO:0035862 Orphanet:86309 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome -MONDO:0011968 autosomal recessive limb-girdle muscular dystrophy type 2D MONDO:0016334 Orphanet:62 Orphanet:217610 obsolete neuromuscular disease with dilated cardiomyopathy -MONDO:0011969 ALG8-congenital disorder of glycosylation MONDO:0018284 Orphanet:79325 Orphanet:371047 obsolete congenital disorder of glycosylation with neurological involvement -MONDO:0011969 ALG8-congenital disorder of glycosylation MONDO:0018288 Orphanet:79325 Orphanet:371157 obsolete congenital disorder of glycosylation with hepatic involvement -MONDO:0011969 ALG8-congenital disorder of glycosylation MONDO:0018291 Orphanet:79325 Orphanet:371188 obsolete congenital disorder of glycosylation with intestinal involvement -MONDO:0011969 ALG8-congenital disorder of glycosylation MONDO:0018294 Orphanet:79325 Orphanet:371207 obsolete congenital disorder of glycosylation with nephropathy as a major feature -MONDO:0011969 ALG8-congenital disorder of glycosylation MONDO:0020228 Orphanet:79325 Orphanet:98644 obsolete cataract associated with a metabolic disease -MONDO:0011969 ALG8-congenital disorder of glycosylation MONDO:0035862 Orphanet:79325 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome -MONDO:0011971 hyper-IgM syndrome type 5 MONDO:0015976 Orphanet:101092 Orphanet:183666 obsolete hyper-IgM syndrome without susceptibility to opportunistic infections -MONDO:0011971 hyper-IgM syndrome type 5 MONDO:8000031 Orphanet:101092 Orphanet:557494 obsolete subtype of a disorder -MONDO:0011972 ovarian hyperstimulation syndrome MONDO:0015875 Orphanet:64739 Orphanet:180303 obsolete rare non-malformative uterine adnexal disease -MONDO:0011972 ovarian hyperstimulation syndrome MONDO:0015980 Orphanet:64739 Orphanet:183731 obsolete rare genetic gynecological and obstetrical diseases -MONDO:0011975 paternal uniparental disomy of chromosome 14 MONDO:0020057 Orphanet:96334 Orphanet:98154 obsolete uniparental disomy of paternal origin -MONDO:0011975 paternal uniparental disomy of chromosome 14 MONDO:8000031 Orphanet:96334 Orphanet:557494 obsolete subtype of a disorder -MONDO:0011976 lipodystrophy-intellectual disability-deafness syndrome MONDO:0019589 Orphanet:50811 Orphanet:90642 obsolete syndromic genetic hearing loss -MONDO:0011976 lipodystrophy-intellectual disability-deafness syndrome MONDO:0019699 Orphanet:50811 Orphanet:93440 obsolete slender bone dysplasia -MONDO:0011976 lipodystrophy-intellectual disability-deafness syndrome MONDO:0019705 Orphanet:50811 Orphanet:93447 obsolete primary bone dysplasia with defective bone mineralization -MONDO:0011976 lipodystrophy-intellectual disability-deafness syndrome MONDO:0031689 Orphanet:50811 Orphanet:363245 obsolete genetic progeroid syndrome -MONDO:0011976 lipodystrophy-intellectual disability-deafness syndrome MONDO:0035863 Orphanet:50811 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0011977 8q22.1 microdeletion syndrome MONDO:0043008 Orphanet:178303 Orphanet:330206 obsolete genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability -MONDO:0011977 8q22.1 microdeletion syndrome MONDO:8000032 Orphanet:178303 Orphanet:377789 obsolete malformation syndrome -MONDO:0011984 synpolydactyly type 2 MONDO:8000031 Orphanet:295197 Orphanet:557494 obsolete subtype of a disorder -MONDO:0011985 hyper-IgM syndrome type 4 MONDO:0015976 Orphanet:101091 Orphanet:183666 obsolete hyper-IgM syndrome without susceptibility to opportunistic infections -MONDO:0011985 hyper-IgM syndrome type 4 MONDO:8000031 Orphanet:101091 Orphanet:557494 obsolete subtype of a disorder -MONDO:0011986 tropical pancreatitis MONDO:0015112 Orphanet:103918 Orphanet:101937 obsolete rare pancreatic disease -MONDO:0011989 leishmaniasis MONDO:0015577 Orphanet:507 Orphanet:163588 obsolete rare parasitic disease -MONDO:0011992 hereditary spastic paraplegia 25 MONDO:0015089 Orphanet:101005 Orphanet:100981 obsolete autosomal recessive complex spastic paraplegia -MONDO:0011995 cataract - congenital heart disease - neural tube defect syndrome MONDO:0017120 Orphanet:314993 Orphanet:269531 obsolete other syndrome with a central nervous system malformation as major feature -MONDO:0011995 cataract - congenital heart disease - neural tube defect syndrome MONDO:0020225 Orphanet:314993 Orphanet:98641 obsolete syndromic cataract -MONDO:0011995 cataract - congenital heart disease - neural tube defect syndrome MONDO:8000032 Orphanet:314993 Orphanet:377789 obsolete malformation syndrome -MONDO:0011997 Hermansky-Pudlak syndrome 2 MONDO:0018032 Orphanet:183678 Orphanet:331184 obsolete constitutional neutropenia with extra-hematopoietic manifestations -MONDO:0011997 Hermansky-Pudlak syndrome 2 MONDO:0018042 Orphanet:183678 Orphanet:331249 obsolete immunodeficiency syndrome with abnormal pigmentation -MONDO:0011997 Hermansky-Pudlak syndrome 2 MONDO:8000031 Orphanet:183678 Orphanet:557494 obsolete subtype of a disorder -MONDO:0011998 autosomal dominant slowed nerve conduction velocity MONDO:0015359 Orphanet:140481 Orphanet:140453 obsolete autosomal dominant hereditary demyelinating motor and sensory neuropathy -MONDO:0012004 parathyroid gland carcinoma MONDO:0015076 Orphanet:143 Orphanet:100090 obsolete rare parathyroid tumor -MONDO:0012004 parathyroid gland carcinoma MONDO:0015897 Orphanet:143 Orphanet:181408 obsolete rare hyperparathyroidism -MONDO:0012008 Lelis syndrome MONDO:8000032 Orphanet:140936 Orphanet:377789 obsolete malformation syndrome -MONDO:0012013 Weill-Marchesani syndrome 2, dominant MONDO:0034937 Orphanet:2084 Orphanet:519292 obsolete syndromic ectopia lentis -MONDO:0012013 Weill-Marchesani syndrome 2, dominant MONDO:8000032 Orphanet:2084 Orphanet:377789 obsolete malformation syndrome -MONDO:0012016 capillary malformation-arteriovenous malformation syndrome MONDO:0016229 Orphanet:137667 Orphanet:211240 obsolete hereditary vascular anomaly -MONDO:0012016 capillary malformation-arteriovenous malformation syndrome MONDO:8000032 Orphanet:137667 Orphanet:377789 obsolete malformation syndrome -MONDO:0012019 spondyloepiphyseal dysplasia, Kimberley type MONDO:0018239 Orphanet:93283 Orphanet:364817 obsolete aggrecan-related bone disorder -MONDO:0012020 chromosome 22q11.2 microduplication syndrome MONDO:8000032 Orphanet:1727 Orphanet:377789 obsolete malformation syndrome -MONDO:0012032 Braddock syndrome MONDO:0017159 Orphanet:52047 Orphanet:275853 obsolete syndrome with pulmonary hypertension as a major feature -MONDO:0012032 Braddock syndrome MONDO:0043008 Orphanet:52047 Orphanet:330206 obsolete genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability -MONDO:0012032 Braddock syndrome MONDO:8000032 Orphanet:52047 Orphanet:377789 obsolete malformation syndrome -MONDO:0012035 craniosynostosis-intracranial calcifications syndrome MONDO:8000032 Orphanet:52054 Orphanet:377789 obsolete malformation syndrome -MONDO:0012041 familial adenomatous polyposis 2 MONDO:8000031 Orphanet:247798 Orphanet:557494 obsolete subtype of a disorder -MONDO:0012052 ALG1-congenital disorder of glycosylation MONDO:0018287 Orphanet:79327 Orphanet:371071 obsolete congenital disorder of glycosylation with epilepsy as a major feature -MONDO:0012052 ALG1-congenital disorder of glycosylation MONDO:0035862 Orphanet:79327 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome -MONDO:0012055 Larsen-like osseous dysplasia-short stature syndrome MONDO:0800086 Orphanet:2370 Orphanet:93441 obsolete primary bone dysplasia with multiple joint dislocations -MONDO:0012055 Larsen-like osseous dysplasia-short stature syndrome MONDO:8000032 Orphanet:2370 Orphanet:377789 obsolete malformation syndrome -MONDO:0012061 familial sick sinus syndrome MONDO:0015110 Orphanet:166282 Orphanet:101934 obsolete genetic cardiac rhythm disease -MONDO:0012063 ulnar/fibula ray defect-brachydactyly syndrome MONDO:0800094 Orphanet:52056 Orphanet:498454 obsolete dysostosis with brachydactyly with extraskeletal manifestations -MONDO:0012063 ulnar/fibula ray defect-brachydactyly syndrome MONDO:8000032 Orphanet:52056 Orphanet:377789 obsolete malformation syndrome -MONDO:0012064 choanal atresia-hearing loss-cardiac defects-craniofacial dysmorphism syndrome MONDO:0015503 Orphanet:1200 Orphanet:156246 obsolete nose and cavum anomaly -MONDO:0012064 choanal atresia-hearing loss-cardiac defects-craniofacial dysmorphism syndrome MONDO:0019589 Orphanet:1200 Orphanet:90642 obsolete syndromic genetic hearing loss -MONDO:0012064 choanal atresia-hearing loss-cardiac defects-craniofacial dysmorphism syndrome MONDO:0033334 Orphanet:1200 Orphanet:435606 obsolete genetic nose and cavum anomaly -MONDO:0012064 choanal atresia-hearing loss-cardiac defects-craniofacial dysmorphism syndrome MONDO:0043008 Orphanet:1200 Orphanet:330206 obsolete genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability -MONDO:0012064 choanal atresia-hearing loss-cardiac defects-craniofacial dysmorphism syndrome MONDO:8000032 Orphanet:1200 Orphanet:377789 obsolete malformation syndrome -MONDO:0012072 familial partial lipodystrophy, Kobberling type MONDO:0029812 Orphanet:79084 Orphanet:300763 obsolete laminopathy with lipodystrophy -MONDO:0012074 mandibuloacral dysplasia with type B lipodystrophy MONDO:8000031 Orphanet:90154 Orphanet:557494 obsolete subtype of a disorder -MONDO:0012075 oligodontia-cancer predisposition syndrome MONDO:0015336 Orphanet:300576 Orphanet:139042 obsolete malformation syndrome with odontal and/or periodontal component -MONDO:0012075 oligodontia-cancer predisposition syndrome MONDO:0015945 Orphanet:300576 Orphanet:183422 obsolete polymalformative genetic syndrome with increased risk of developing cancer -MONDO:0012081 15q11q13 microduplication syndrome MONDO:8000032 Orphanet:238446 Orphanet:377789 obsolete malformation syndrome -MONDO:0012084 aromatic L-amino acid decarboxylase deficiency MONDO:0019058 Orphanet:35708 Orphanet:68385 obsolete neurometabolic disease -MONDO:0012089 ichthyosis prematurity syndrome MONDO:0029102 Orphanet:88621 Orphanet:281244 obsolete autosomal ichthyosis syndrome with other associated signs -MONDO:0012092 hereditary sensory and autonomic neuropathy type 5 MONDO:0015366 Orphanet:64752 Orphanet:140477 obsolete autosomal recessive hereditary sensory and autonomic neuropathy -MONDO:0012095 intellectual disability-brachydactyly-Pierre Robin syndrome MONDO:0015319 Orphanet:364577 Orphanet:138044 obsolete rare disease with Pierre Robin syndrome -MONDO:0012095 intellectual disability-brachydactyly-Pierre Robin syndrome MONDO:0018187 Orphanet:364577 Orphanet:363294 obsolete hereditary syndromic Pierre Robin syndrome -MONDO:0012095 intellectual disability-brachydactyly-Pierre Robin syndrome MONDO:0035863 Orphanet:364577 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0012095 intellectual disability-brachydactyly-Pierre Robin syndrome MONDO:0800094 Orphanet:364577 Orphanet:498454 obsolete dysostosis with brachydactyly with extraskeletal manifestations -MONDO:0012095 intellectual disability-brachydactyly-Pierre Robin syndrome MONDO:8000032 Orphanet:364577 Orphanet:377789 obsolete malformation syndrome -MONDO:0012099 AICA-ribosiduria MONDO:0034953 Orphanet:250977 Orphanet:519325 obsolete syndromic inherited retinal disorder -MONDO:0012099 AICA-ribosiduria MONDO:0035862 Orphanet:250977 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome -MONDO:0012105 granulomatosis with polyangiitis MONDO:0015657 Orphanet:900 Orphanet:166484 obsolete inflammatory and autoimmune disease with epilepsy -MONDO:0012105 granulomatosis with polyangiitis MONDO:0016177 Orphanet:900 Orphanet:209007 obsolete systemic inflammatory disease associated with an acquired peripheral neuropathy -MONDO:0012110 growth delay due to insulin-like growth factor type 1 deficiency MONDO:0035862 Orphanet:73272 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome -MONDO:0012117 ALG9-congenital disorder of glycosylation MONDO:0018287 Orphanet:79328 Orphanet:371071 obsolete congenital disorder of glycosylation with epilepsy as a major feature -MONDO:0012117 ALG9-congenital disorder of glycosylation MONDO:0018288 Orphanet:79328 Orphanet:371157 obsolete congenital disorder of glycosylation with hepatic involvement -MONDO:0012117 ALG9-congenital disorder of glycosylation MONDO:0035862 Orphanet:79328 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome -MONDO:0012118 COG7-congenital disorder of glycosylation MONDO:0018287 Orphanet:79333 Orphanet:371071 obsolete congenital disorder of glycosylation with epilepsy as a major feature -MONDO:0012118 COG7-congenital disorder of glycosylation MONDO:0018290 Orphanet:79333 Orphanet:371183 obsolete congenital disorder of glycosylation with cardiac malformation as a major feature -MONDO:0012118 COG7-congenital disorder of glycosylation MONDO:0018293 Orphanet:79333 Orphanet:371200 obsolete congenital disorder of glycosylation with skin involvement -MONDO:0012118 COG7-congenital disorder of glycosylation MONDO:0035863 Orphanet:79333 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0012120 pyruvate dehydrogenase phosphatase deficiency MONDO:8000031 Orphanet:79246 Orphanet:557494 obsolete subtype of a disorder -MONDO:0012123 congenital disorder of glycosylation type 1E MONDO:0018287 Orphanet:79322 Orphanet:371071 obsolete congenital disorder of glycosylation with epilepsy as a major feature -MONDO:0012123 congenital disorder of glycosylation type 1E MONDO:0035862 Orphanet:79322 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome -MONDO:0012124 sudden infant death-dysgenesis of the testes syndrome MONDO:0015118 Orphanet:168593 Orphanet:101944 obsolete rare pulmonary disease -MONDO:0012124 sudden infant death-dysgenesis of the testes syndrome MONDO:0015510 Orphanet:168593 Orphanet:156610 obsolete rare genetic respiratory disease -MONDO:0012124 sudden infant death-dysgenesis of the testes syndrome MONDO:0020042 Orphanet:168593 Orphanet:98087 obsolete syndrome with 46,XY disorder of sex development -MONDO:0012124 sudden infant death-dysgenesis of the testes syndrome MONDO:8000032 Orphanet:168593 Orphanet:377789 obsolete malformation syndrome -MONDO:0012125 hypomyelinating leukodystrophy 2 MONDO:8000031 Orphanet:280282 Orphanet:557494 obsolete subtype of a disorder -MONDO:0012126 familial avascular necrosis of femoral head MONDO:0018384 Orphanet:86820 Orphanet:399388 obsolete avascular necrosis of genetic origin -MONDO:0012130 myofibrillar myopathy 2 MONDO:0020343 Orphanet:399058 Orphanet:98910 obsolete alpha-crystallinopathy -MONDO:0012130 myofibrillar myopathy 2 MONDO:0026989 Orphanet:399058 Orphanet:217595 obsolete syndrome associated with hypertrophic cardiomyopathy -MONDO:0012131 metaphyseal undermodeling, spondylar dysplasia, and overgrowth MONDO:0800091 Orphanet:498485 Orphanet:498448 obsolete overgrowth or tall stature syndrome with skeletal involvement -MONDO:0012131 metaphyseal undermodeling, spondylar dysplasia, and overgrowth MONDO:8000032 Orphanet:498485 Orphanet:377789 obsolete malformation syndrome -MONDO:0012136 carnitine palmitoyl transferase II deficiency, neonatal form MONDO:8000031 Orphanet:228308 Orphanet:557494 obsolete subtype of a disorder -MONDO:0012137 Carney complex - trismus - pseudocamptodactyly syndrome MONDO:0015673 Orphanet:319340 Orphanet:168194 obsolete rare cardiac tumor -MONDO:0012137 Carney complex - trismus - pseudocamptodactyly syndrome MONDO:0017129 Orphanet:319340 Orphanet:271841 obsolete inherited cardiac tumor -MONDO:0012143 hereditary cryohydrocytosis with reduced stomatin MONDO:0035862 Orphanet:168577 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome -MONDO:0012155 choanal atresia MONDO:0015503 Orphanet:137914 Orphanet:156246 obsolete nose and cavum anomaly -MONDO:0012155 choanal atresia MONDO:8000030 Orphanet:137914 Orphanet:377791 obsolete morphological anomaly -MONDO:0012160 spondylometaphyseal dysplasia-cone-rod dystrophy syndrome MONDO:0034953 Orphanet:85167 Orphanet:519325 obsolete syndromic inherited retinal disorder -MONDO:0012164 Meacham syndrome MONDO:0015846 Orphanet:3097 Orphanet:180148 obsolete syndromic uterovaginal malformation -MONDO:0012164 Meacham syndrome MONDO:0017978 Orphanet:3097 Orphanet:325638 obsolete syndrome with disorder of sex development of gynecological interest -MONDO:0012164 Meacham syndrome MONDO:0020042 Orphanet:3097 Orphanet:98087 obsolete syndrome with 46,XY disorder of sex development -MONDO:0012164 Meacham syndrome MONDO:8000032 Orphanet:3097 Orphanet:377789 obsolete malformation syndrome -MONDO:0012165 BNAR syndrome MONDO:0015246 Orphanet:217266 Orphanet:117573 obsolete syndromic anorectal malformation -MONDO:0012165 BNAR syndrome MONDO:0015503 Orphanet:217266 Orphanet:156246 obsolete nose and cavum anomaly -MONDO:0012165 BNAR syndrome MONDO:0019721 Orphanet:217266 Orphanet:93547 obsolete syndromic renal or urinary tract malformation -MONDO:0012165 BNAR syndrome MONDO:0033334 Orphanet:217266 Orphanet:435606 obsolete genetic nose and cavum anomaly -MONDO:0012165 BNAR syndrome MONDO:0043008 Orphanet:217266 Orphanet:330206 obsolete genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability -MONDO:0012165 BNAR syndrome MONDO:8000032 Orphanet:217266 Orphanet:377789 obsolete malformation syndrome -MONDO:0012172 mitochondrial trifunctional protein deficiency MONDO:0016133 Orphanet:746 Orphanet:207018 obsolete rare hereditary metabolic disease with peripheral neuropathy -MONDO:0012172 mitochondrial trifunctional protein deficiency MONDO:0016328 Orphanet:746 Orphanet:217591 obsolete fatty acid oxidation and ketogenesis disorder with hypertrophic cardiomyopathy -MONDO:0012173 long chain 3-hydroxyacyl-CoA dehydrogenase deficiency MONDO:0015895 Orphanet:5 Orphanet:181402 obsolete syndrome with hypoparathyroidism -MONDO:0012173 long chain 3-hydroxyacyl-CoA dehydrogenase deficiency MONDO:0016133 Orphanet:5 Orphanet:207018 obsolete rare hereditary metabolic disease with peripheral neuropathy -MONDO:0012173 long chain 3-hydroxyacyl-CoA dehydrogenase deficiency MONDO:0016328 Orphanet:5 Orphanet:217591 obsolete fatty acid oxidation and ketogenesis disorder with hypertrophic cardiomyopathy -MONDO:0012173 long chain 3-hydroxyacyl-CoA dehydrogenase deficiency MONDO:0020240 Orphanet:5 Orphanet:98661 obsolete syndromic retinitis pigmentosa -MONDO:0012176 Emanuel syndrome MONDO:0015216 Orphanet:96170 Orphanet:108979 obsolete syndromic diaphragmatic or abdominal wall malformation -MONDO:0012176 Emanuel syndrome MONDO:0015880 Orphanet:96170 Orphanet:180779 obsolete syndromic diaphragmatic or thoracic malformation -MONDO:0012176 Emanuel syndrome MONDO:0016998 Orphanet:96170 Orphanet:263708 obsolete complex chromosomal rearrangement -MONDO:0012176 Emanuel syndrome MONDO:8000032 Orphanet:96170 Orphanet:377789 obsolete malformation syndrome -MONDO:0012177 posterior column ataxia-retinitis pigmentosa syndrome MONDO:0035862 Orphanet:88628 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome -MONDO:0012181 hereditary spastic paraplegia 27 MONDO:0017915 Orphanet:101007 Orphanet:320346 obsolete pure or complex autosomal recessive spastic paraplegia -MONDO:0012184 Pierson syndrome MONDO:8000032 Orphanet:2670 Orphanet:377789 obsolete malformation syndrome -MONDO:0012188 neuronal ceroid lipofuscinosis 9 MONDO:8000031 Orphanet:228357 Orphanet:557494 obsolete subtype of a disorder -MONDO:0012190 epidermolysis bullosa simplex 7, with nephropathy and deafness MONDO:0019589 Orphanet:300333 Orphanet:90642 obsolete syndromic genetic hearing loss -MONDO:0012190 epidermolysis bullosa simplex 7, with nephropathy and deafness MONDO:0035685 Orphanet:300333 Orphanet:595351 obsolete epidermolysis bullosa simplex with extracutaneous involvement -MONDO:0012191 hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 MONDO:0015115 Orphanet:137681 Orphanet:101940 obsolete rare genetic metabolic liver disease -MONDO:0012191 hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 MONDO:0018157 Orphanet:137681 Orphanet:35696 obsolete mitochondrial disorder due to a defect in mitochondrial protein synthesis -MONDO:0012192 permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome MONDO:0017118 Orphanet:65288 Orphanet:269523 obsolete syndrome with a cerebellar malformation as major feature -MONDO:0012192 permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome MONDO:8000032 Orphanet:65288 Orphanet:377789 obsolete malformation syndrome -MONDO:0012195 arthrogryposis-severe scoliosis syndrome MONDO:8000032 Orphanet:65720 Orphanet:377789 obsolete malformation syndrome -MONDO:0012198 PCWH syndrome MONDO:0015184 Orphanet:163746 Orphanet:104009 obsolete rare disease involving intestinal motility -MONDO:0012198 PCWH syndrome MONDO:0019589 Orphanet:163746 Orphanet:90642 obsolete syndromic genetic hearing loss -MONDO:0012198 PCWH syndrome MONDO:0035340 Orphanet:163746 Orphanet:557866 obsolete rare disorder with hirschsprung disease as a major feature -MONDO:0012198 PCWH syndrome MONDO:0035862 Orphanet:163746 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome -MONDO:0012203 familial hyperthyroidism due to mutations in TSH receptor MONDO:0015512 Orphanet:424 Orphanet:156629 obsolete genetic hypertension -MONDO:0012203 familial hyperthyroidism due to mutations in TSH receptor MONDO:0015894 Orphanet:424 Orphanet:181399 obsolete rare hyperthyroidism -MONDO:0012209 branchiogenic deafness syndrome MONDO:0019589 Orphanet:50815 Orphanet:90642 obsolete syndromic genetic hearing loss -MONDO:0012209 branchiogenic deafness syndrome MONDO:0020253 Orphanet:50815 Orphanet:98683 obsolete syndrome with a symptomatic strabismus -MONDO:0012209 branchiogenic deafness syndrome MONDO:0035863 Orphanet:50815 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0012209 branchiogenic deafness syndrome MONDO:8000032 Orphanet:50815 Orphanet:377789 obsolete malformation syndrome -MONDO:0012211 MPDU1-congenital disorder of glycosylation MONDO:0018287 Orphanet:79323 Orphanet:371071 obsolete congenital disorder of glycosylation with epilepsy as a major feature -MONDO:0012211 MPDU1-congenital disorder of glycosylation MONDO:0018293 Orphanet:79323 Orphanet:371200 obsolete congenital disorder of glycosylation with skin involvement -MONDO:0012211 MPDU1-congenital disorder of glycosylation MONDO:0035862 Orphanet:79323 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome -MONDO:0012213 hereditary spastic paraplegia 26 MONDO:0015089 Orphanet:101006 Orphanet:100981 obsolete autosomal recessive complex spastic paraplegia -MONDO:0012213 hereditary spastic paraplegia 26 MONDO:0035862 Orphanet:101006 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome -MONDO:0012215 myofibrillar myopathy 3 MONDO:0016201 Orphanet:266 Orphanet:209224 obsolete qualitative or quantitative defects of myotilin -MONDO:0012215 myofibrillar myopathy 3 MONDO:0016201 Orphanet:268129 Orphanet:209224 obsolete qualitative or quantitative defects of myotilin -MONDO:0012215 myofibrillar myopathy 3 MONDO:0016201 Orphanet:98911 Orphanet:209224 obsolete qualitative or quantitative defects of myotilin -MONDO:0012216 foveal hypoplasia - optic nerve decussation defect - anterior segment dysgenesis syndrome MONDO:0034965 Orphanet:397618 Orphanet:519349 obsolete rare ophthalmic disorder with cranial nerve involvement -MONDO:0012220 Griscelli syndrome type 3 MONDO:8000031 Orphanet:79478 Orphanet:557494 obsolete subtype of a disorder -MONDO:0012221 alpha-N-acetylgalactosaminidase deficiency type 1 MONDO:8000031 Orphanet:79279 Orphanet:557494 obsolete subtype of a disorder -MONDO:0012222 alpha-N-acetylgalactosaminidase deficiency type 2 MONDO:8000031 Orphanet:79280 Orphanet:557494 obsolete subtype of a disorder -MONDO:0012248 autosomal recessive limb-girdle muscular dystrophy type 2K MONDO:0017745 Orphanet:86812 Orphanet:309469 obsolete disorder of O-mannosylglycan synthesis -MONDO:0012248 autosomal recessive limb-girdle muscular dystrophy type 2K MONDO:0018284 Orphanet:86812 Orphanet:371047 obsolete congenital disorder of glycosylation with neurological involvement -MONDO:0012248 autosomal recessive limb-girdle muscular dystrophy type 2K MONDO:0035862 Orphanet:86812 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome -MONDO:0012251 MEDNIK syndrome MONDO:0017272 Orphanet:171851 Orphanet:281238 obsolete autosomal ichthyosis syndrome with prominent neurologics signs -MONDO:0012251 MEDNIK syndrome MONDO:0019589 Orphanet:171851 Orphanet:90642 obsolete syndromic genetic hearing loss -MONDO:0012251 MEDNIK syndrome MONDO:0026150 Orphanet:171851 Orphanet:183438 obsolete genetic erythrokeratoderma -MONDO:0012251 MEDNIK syndrome MONDO:0035862 Orphanet:171851 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome -MONDO:0012256 hereditary spastic paraplegia 28 MONDO:0015090 Orphanet:101008 Orphanet:100982 obsolete autosomal recessive pure spastic paraplegia -MONDO:0012258 epidermolysis bullosa simplex 2E, with migratory circinate erythema MONDO:0035684 Orphanet:158681 Orphanet:595346 obsolete epidermolysis bullosa simplex without extracutaneous involvement -MONDO:0012269 chromosome 3q29 microdeletion syndrome MONDO:8000032 Orphanet:65286 Orphanet:377789 obsolete malformation syndrome -MONDO:0012271 mesoaxial synostotic syndactyly with phalangeal reduction MONDO:8000030 Orphanet:157801 Orphanet:377791 obsolete morphological anomaly -MONDO:0012275 fetal valproate syndrome MONDO:0015323 Orphanet:1906 Orphanet:138059 obsolete teratogenic Pierre Robin syndrome -MONDO:0012275 fetal valproate syndrome MONDO:0018262 Orphanet:1906 Orphanet:370068 obsolete fetal anticonvulsant syndrome -MONDO:0012275 fetal valproate syndrome MONDO:8000032 Orphanet:1906 Orphanet:377789 obsolete malformation syndrome -MONDO:0012280 Goldberg-Shprintzen megacolon syndrome MONDO:0015184 Orphanet:66629 Orphanet:104009 obsolete rare disease involving intestinal motility -MONDO:0012280 Goldberg-Shprintzen megacolon syndrome MONDO:0015335 Orphanet:66629 Orphanet:139039 obsolete Mendelian syndromes with cleft lip/palate -MONDO:0012280 Goldberg-Shprintzen megacolon syndrome MONDO:0020169 Orphanet:66629 Orphanet:98578 obsolete rare disorder with ptosis -MONDO:0012280 Goldberg-Shprintzen megacolon syndrome MONDO:0035340 Orphanet:66629 Orphanet:557866 obsolete rare disorder with hirschsprung disease as a major feature -MONDO:0012280 Goldberg-Shprintzen megacolon syndrome MONDO:0035863 Orphanet:66629 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0012280 Goldberg-Shprintzen megacolon syndrome MONDO:8000032 Orphanet:66629 Orphanet:377789 obsolete malformation syndrome -MONDO:0012290 CEDNIK syndrome MONDO:0017273 Orphanet:66631 Orphanet:281241 obsolete autosomal ichthyosis syndrome with fatal disease course -MONDO:0012290 CEDNIK syndrome MONDO:0017671 Orphanet:66631 Orphanet:307804 obsolete autosomal recessive disease with diffuse palmoplantar keratoderma as a major feature -MONDO:0012290 CEDNIK syndrome MONDO:0035862 Orphanet:66631 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome -MONDO:0012297 SPOAN syndrome MONDO:0018550 Orphanet:320406 Orphanet:431320 obsolete spastic paraplegia-optic atrophy-neuropathy and spastic paraplegia-optic atrophy-neuropathy-related disorder -MONDO:0012301 mitochondrial DNA depletion syndrome, myopathic form MONDO:0019058 Orphanet:254875 Orphanet:68385 obsolete neurometabolic disease -MONDO:0012307 familial scaphocephaly syndrome, McGillivray type MONDO:0035863 Orphanet:168624 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0012307 familial scaphocephaly syndrome, McGillivray type MONDO:8000032 Orphanet:168624 Orphanet:377789 obsolete malformation syndrome -MONDO:0012308 Joubert syndrome with renal defect MONDO:0017118 Orphanet:220497 Orphanet:269523 obsolete syndrome with a cerebellar malformation as major feature -MONDO:0012308 Joubert syndrome with renal defect MONDO:0022405 Orphanet:220497 Orphanet:156180 obsolete retinal ciliopathy due to mutation in nephronophthisis gene -MONDO:0012308 Joubert syndrome with renal defect MONDO:0022409 Orphanet:220497 Orphanet:156162 obsolete nephropathy-associated ciliopathy -MONDO:0012308 Joubert syndrome with renal defect MONDO:0035863 Orphanet:220497 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0012308 Joubert syndrome with renal defect MONDO:8000032 Orphanet:220497 Orphanet:377789 obsolete malformation syndrome -MONDO:0012315 distal 10q deletion syndrome MONDO:8000032 Orphanet:96148 Orphanet:377789 obsolete malformation syndrome -MONDO:0012316 Majeed syndrome MONDO:0017369 Orphanet:77297 Orphanet:290839 obsolete autoinflammatory syndrome with immune deficiency -MONDO:0012316 Majeed syndrome MONDO:0017370 Orphanet:77297 Orphanet:290842 obsolete autoinflammatory syndrome with skin involvement -MONDO:0012316 Majeed syndrome MONDO:0017397 Orphanet:77297 Orphanet:293830 obsolete constitutional dyserythropoietic anemia -MONDO:0012316 Majeed syndrome MONDO:0017954 Orphanet:77297 Orphanet:324927 obsolete pyogenic autoinflammatory syndrome -MONDO:0012316 Majeed syndrome MONDO:0800092 Orphanet:77297 Orphanet:498445 obsolete hereditary inflammatory or rheumatoid-like osteoarthropathy -MONDO:0012323 lethal acantholytic epidermolysis bullosa MONDO:0019274 Orphanet:158687 Orphanet:79359 obsolete other epidermal disorder -MONDO:0012323 lethal acantholytic epidermolysis bullosa MONDO:0019275 Orphanet:158687 Orphanet:79360 obsolete other genetic epidermal disease -MONDO:0012324 Frias syndrome MONDO:0043008 Orphanet:264200 Orphanet:330206 obsolete genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability -MONDO:0012324 Frias syndrome MONDO:8000032 Orphanet:264200 Orphanet:377789 obsolete malformation syndrome -MONDO:0012330 talo-patello-scaphoid osteolysis MONDO:8000032 Orphanet:50809 Orphanet:377789 obsolete malformation syndrome -MONDO:0012335 obesity due to pro-opiomelanocortin deficiency MONDO:0015825 Orphanet:71526 Orphanet:179490 obsolete obesity due to congenital leptin resistance -MONDO:0012342 7q11.23 microduplication syndrome MONDO:8000032 Orphanet:96121 Orphanet:377789 obsolete malformation syndrome -MONDO:0012351 zygodactyly type 1 MONDO:8000031 Orphanet:295187 Orphanet:557494 obsolete subtype of a disorder -MONDO:0012354 platelet-type bleeding disorder 8 MONDO:0017142 Orphanet:36355 Orphanet:275736 obsolete hemorrhagic disorder due to a qualitative platelet defect -MONDO:0012368 aminoacylase 1 deficiency MONDO:0019058 Orphanet:137754 Orphanet:68385 obsolete neurometabolic disease -MONDO:0012368 aminoacylase 1 deficiency MONDO:0035862 Orphanet:137754 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome -MONDO:0012382 hyperinsulinemic hypoglycemia, familial, 4 MONDO:0016401 Orphanet:71212 Orphanet:225696 obsolete energy metabolism disorder with epilepsy -MONDO:0012382 hyperinsulinemic hypoglycemia, familial, 4 MONDO:0019058 Orphanet:71212 Orphanet:68385 obsolete neurometabolic disease -MONDO:0012383 primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency MONDO:0015707 Orphanet:75391 Orphanet:169346 obsolete DNA repair defect other than combined T-cell and B-cell immunodeficiencies -MONDO:0012387 osteosclerosis-ichthyosis-premature ovarian failure syndrome MONDO:0018401 Orphanet:75325 Orphanet:399853 obsolete female infertility due to an anomaly of ovarian function -MONDO:0012387 osteosclerosis-ichthyosis-premature ovarian failure syndrome MONDO:0018413 Orphanet:75325 Orphanet:400022 obsolete female infertility due to an anomaly of ovarian function of genetic origin -MONDO:0012387 osteosclerosis-ichthyosis-premature ovarian failure syndrome MONDO:0029102 Orphanet:75325 Orphanet:281244 obsolete autosomal ichthyosis syndrome with other associated signs -MONDO:0012387 osteosclerosis-ichthyosis-premature ovarian failure syndrome MONDO:0034443 Orphanet:75325 Orphanet:485382 obsolete genetic non-acquired premature ovarian failure -MONDO:0012387 osteosclerosis-ichthyosis-premature ovarian failure syndrome MONDO:0800084 Orphanet:75325 Orphanet:93444 obsolete primary bone dysplasia with increased bone density -MONDO:0012391 neuronal ceroid lipofuscinosis 8 northern epilepsy variant MONDO:0035863 Orphanet:1947 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0012392 2-methylbutyryl-CoA dehydrogenase deficiency MONDO:0016399 Orphanet:79157 Orphanet:225689 obsolete amino acid or protein metabolism disease with epilepsy -MONDO:0012392 2-methylbutyryl-CoA dehydrogenase deficiency MONDO:0019058 Orphanet:79157 Orphanet:68385 obsolete neurometabolic disease -MONDO:0012393 congenital brain dysgenesis due to glutamine synthetase deficiency MONDO:0019058 Orphanet:71278 Orphanet:68385 obsolete neurometabolic disease -MONDO:0012393 congenital brain dysgenesis due to glutamine synthetase deficiency MONDO:0035862 Orphanet:71278 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome -MONDO:0012399 complex cortical dysplasia with other brain malformations 7 MONDO:0017118 Orphanet:300573 Orphanet:269523 obsolete syndrome with a cerebellar malformation as major feature -MONDO:0012399 complex cortical dysplasia with other brain malformations 7 MONDO:0017120 Orphanet:300573 Orphanet:269531 obsolete other syndrome with a central nervous system malformation as major feature -MONDO:0012399 complex cortical dysplasia with other brain malformations 7 MONDO:0035863 Orphanet:300573 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0012399 complex cortical dysplasia with other brain malformations 7 MONDO:8000032 Orphanet:300573 Orphanet:377789 obsolete malformation syndrome -MONDO:0012400 cortical dysplasia-focal epilepsy syndrome MONDO:0035862 Orphanet:163681 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome -MONDO:0012407 pyridoxal phosphate-responsive seizures MONDO:0016404 Orphanet:79096 Orphanet:225707 obsolete metabolic neurotransmission anomaly with epilepsy -MONDO:0012407 pyridoxal phosphate-responsive seizures MONDO:0017760 Orphanet:79096 Orphanet:309833 obsolete disorder of other vitamins and cofactors metabolism and transport -MONDO:0012407 pyridoxal phosphate-responsive seizures MONDO:0019058 Orphanet:79096 Orphanet:68385 obsolete neurometabolic disease -MONDO:0012407 pyridoxal phosphate-responsive seizures MONDO:0035862 Orphanet:79096 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome -MONDO:0012413 syndromic microphthalmia type 5 MONDO:8000032 Orphanet:178364 Orphanet:377789 obsolete malformation syndrome -MONDO:0012414 neuronal ceroid lipofuscinosis 10 MONDO:8000031 Orphanet:228337 Orphanet:557494 obsolete subtype of a disorder -MONDO:0012417 heart-hand syndrome, Slovenian type MONDO:0015110 Orphanet:168796 Orphanet:101934 obsolete genetic cardiac rhythm disease -MONDO:0012417 heart-hand syndrome, Slovenian type MONDO:0016337 Orphanet:168796 Orphanet:217619 obsolete syndrome associated with dilated cardiomyopathy -MONDO:0012417 heart-hand syndrome, Slovenian type MONDO:0029810 Orphanet:168796 Orphanet:300755 obsolete laminopathy with striated muscle involvement -MONDO:0012417 heart-hand syndrome, Slovenian type MONDO:8000032 Orphanet:168796 Orphanet:377789 obsolete malformation syndrome -MONDO:0012423 MORM syndrome MONDO:0016565 Orphanet:75858 Orphanet:240371 obsolete syndromic genetic obesity -MONDO:0012423 MORM syndrome MONDO:0034953 Orphanet:75858 Orphanet:519325 obsolete syndromic inherited retinal disorder -MONDO:0012423 MORM syndrome MONDO:0035862 Orphanet:75858 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome -MONDO:0012435 3-methylglutaconic aciduria type 5 MONDO:0016337 Orphanet:66634 Orphanet:217619 obsolete syndrome associated with dilated cardiomyopathy -MONDO:0012435 3-methylglutaconic aciduria type 5 MONDO:0035862 Orphanet:66634 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome -MONDO:0012439 Alagille syndrome due to a NOTCH2 point mutation MONDO:8000031 Orphanet:261629 Orphanet:557494 obsolete subtype of a disorder -MONDO:0012446 seborrhea-like dermatitis with psoriasiform elements MONDO:0015946 Orphanet:168606 Orphanet:183426 obsolete rare genetic epidermal disorder -MONDO:0012446 seborrhea-like dermatitis with psoriasiform elements MONDO:0019274 Orphanet:168606 Orphanet:79359 obsolete other epidermal disorder -MONDO:0012447 synpolydactyly type 3 MONDO:8000031 Orphanet:295199 Orphanet:557494 obsolete subtype of a disorder -MONDO:0012450 spinocerebellar ataxia type 28 MONDO:0018157 Orphanet:101109 Orphanet:35696 obsolete mitochondrial disorder due to a defect in mitochondrial protein synthesis -MONDO:0012453 hereditary spastic paraplegia 31 MONDO:0017914 Orphanet:101011 Orphanet:320342 obsolete pure or complex autosomal dominant spastic paraplegia -MONDO:0012455 Kleefstra syndrome MONDO:0035863 Orphanet:261494 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0012455 Kleefstra syndrome MONDO:8000032 Orphanet:261494 Orphanet:377789 obsolete malformation syndrome -MONDO:0012456 congenital primary aphakia MONDO:0020145 Orphanet:83461 Orphanet:98553 obsolete developmental defect of the eye -MONDO:0012456 congenital primary aphakia MONDO:0020223 Orphanet:83461 Orphanet:98639 obsolete lens and zonula anomaly -MONDO:0012456 congenital primary aphakia MONDO:0026186 Orphanet:83461 Orphanet:183557 obsolete genetic developmental defect of the eye -MONDO:0012456 congenital primary aphakia MONDO:8000032 Orphanet:83461 Orphanet:377789 obsolete malformation syndrome -MONDO:0012462 autosomal recessive frontotemporal pachygyria MONDO:0015572 Orphanet:329329 Orphanet:163209 obsolete cerebral malformation due to abnormal neuronal migration -MONDO:0012462 autosomal recessive frontotemporal pachygyria MONDO:8000032 Orphanet:329329 Orphanet:377789 obsolete malformation syndrome -MONDO:0012465 hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency MONDO:0016633 Orphanet:83639 Orphanet:248361 obsolete thrombotic disorder due to a constitutional coagulation factors defect -MONDO:0012465 hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency MONDO:0018287 Orphanet:83639 Orphanet:371071 obsolete congenital disorder of glycosylation with epilepsy as a major feature -MONDO:0012476 hereditary spastic paraplegia 30 MONDO:0017914 Orphanet:101010 Orphanet:320342 obsolete pure or complex autosomal dominant spastic paraplegia -MONDO:0012476 hereditary spastic paraplegia 30 MONDO:0017915 Orphanet:101010 Orphanet:320346 obsolete pure or complex autosomal recessive spastic paraplegia -MONDO:0012479 congenital malabsorptive diarrhea 4 MONDO:0015182 Orphanet:83620 Orphanet:104007 obsolete congenital enteropathy involving intestinal mucosa development -MONDO:0012481 mevalonic aciduria MONDO:0020228 Orphanet:29 Orphanet:98644 obsolete cataract associated with a metabolic disease -MONDO:0012481 mevalonic aciduria MONDO:0035862 Orphanet:29 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome -MONDO:0012481 mevalonic aciduria MONDO:8000031 Orphanet:29 Orphanet:557494 obsolete subtype of a disorder -MONDO:0012496 Koolen-de Vries syndrome MONDO:0035863 Orphanet:96169 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0012496 Koolen-de Vries syndrome MONDO:8000032 Orphanet:96169 Orphanet:377789 obsolete malformation syndrome -MONDO:0012502 normophosphatemic familial tumoral calcinosis MONDO:8000031 Orphanet:306658 Orphanet:557494 obsolete subtype of a disorder -MONDO:0012504 camptodactyly-tall stature-scoliosis-hearing loss syndrome MONDO:0019711 Orphanet:85164 Orphanet:93454 obsolete dysostosis with predominant vertebral and costal involvement -MONDO:0012508 agammaglobulinemia-microcephaly-craniosynostosis-severe dermatitis syndrome MONDO:0019305 Orphanet:83617 Orphanet:79391 obsolete immune deficiency with skin involvement -MONDO:0012508 agammaglobulinemia-microcephaly-craniosynostosis-severe dermatitis syndrome MONDO:0026166 Orphanet:83617 Orphanet:183494 obsolete genetic immune deficiency with skin involvement -MONDO:0012508 agammaglobulinemia-microcephaly-craniosynostosis-severe dermatitis syndrome MONDO:0035863 Orphanet:83617 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0012508 agammaglobulinemia-microcephaly-craniosynostosis-severe dermatitis syndrome MONDO:8000032 Orphanet:83617 Orphanet:377789 obsolete malformation syndrome -MONDO:0012510 combined oxidative phosphorylation defect type 2 MONDO:0018157 Orphanet:254920 Orphanet:35696 obsolete mitochondrial disorder due to a defect in mitochondrial protein synthesis -MONDO:0012512 fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3 MONDO:0018157 Orphanet:168566 Orphanet:35696 obsolete mitochondrial disorder due to a defect in mitochondrial protein synthesis -MONDO:0012512 fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3 MONDO:0035862 Orphanet:168566 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome -MONDO:0012514 hypomyelinating leukodystrophy 5 MONDO:0020225 Orphanet:85163 Orphanet:98641 obsolete syndromic cataract -MONDO:0012514 hypomyelinating leukodystrophy 5 MONDO:0035862 Orphanet:85163 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome -MONDO:0012514 hypomyelinating leukodystrophy 5 MONDO:8000032 Orphanet:85163 Orphanet:377789 obsolete malformation syndrome -MONDO:0012516 mandibulofacial dysostosis-microcephaly syndrome MONDO:0015334 Orphanet:79113 Orphanet:139036 obsolete branchial arch or oral-acral syndrome -MONDO:0012516 mandibulofacial dysostosis-microcephaly syndrome MONDO:0015335 Orphanet:79113 Orphanet:139039 obsolete Mendelian syndromes with cleft lip/palate -MONDO:0012516 mandibulofacial dysostosis-microcephaly syndrome MONDO:0026189 Orphanet:79113 Orphanet:183576 obsolete genetic branchial arch or oral-acral syndrome -MONDO:0012516 mandibulofacial dysostosis-microcephaly syndrome MONDO:0035863 Orphanet:79113 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0012516 mandibulofacial dysostosis-microcephaly syndrome MONDO:8000032 Orphanet:79113 Orphanet:377789 obsolete malformation syndrome -MONDO:0012517 Gaucher disease due to saposin C deficiency MONDO:8000031 Orphanet:309252 Orphanet:557494 obsolete subtype of a disorder -MONDO:0012519 Rubinstein-Taybi syndrome due to 16p13.3 microdeletion MONDO:8000031 Orphanet:353281 Orphanet:557494 obsolete subtype of a disorder -MONDO:0012520 insulin-resistance syndrome type A MONDO:0015885 Orphanet:2297 Orphanet:181368 obsolete rare insulin-resistance syndrome -MONDO:0012520 insulin-resistance syndrome type A MONDO:0018401 Orphanet:2297 Orphanet:399853 obsolete female infertility due to an anomaly of ovarian function -MONDO:0012520 insulin-resistance syndrome type A MONDO:0018413 Orphanet:2297 Orphanet:400022 obsolete female infertility due to an anomaly of ovarian function of genetic origin -MONDO:0012521 herpes simplex encephalitis MONDO:0015659 Orphanet:1930 Orphanet:166490 obsolete infectious disease with epilepsy -MONDO:0012521 herpes simplex encephalitis MONDO:0020141 Orphanet:1930 Orphanet:98542 obsolete infectious disease with dementia -MONDO:0012526 hereditary angioedema type 3 MONDO:0033947 Orphanet:100054 Orphanet:528647 obsolete hereditary angioedema with normal C1Inh -MONDO:0012526 hereditary angioedema type 3 MONDO:8000031 Orphanet:100054 Orphanet:557494 obsolete subtype of a disorder -MONDO:0012530 palmoplantar keratoderma-XX sex reversal-predisposition to squamous cell carcinoma syndrome MONDO:0017671 Orphanet:85112 Orphanet:307804 obsolete autosomal recessive disease with diffuse palmoplantar keratoderma as a major feature -MONDO:0012530 palmoplantar keratoderma-XX sex reversal-predisposition to squamous cell carcinoma syndrome MONDO:0017965 Orphanet:85112 Orphanet:325109 obsolete syndrome with 46,XX disorder of sex development -MONDO:0012530 palmoplantar keratoderma-XX sex reversal-predisposition to squamous cell carcinoma syndrome MONDO:0017978 Orphanet:85112 Orphanet:325638 obsolete syndrome with disorder of sex development of gynecological interest -MONDO:0012534 combined oxidative phosphorylation defect type 4 MONDO:0018157 Orphanet:254925 Orphanet:35696 obsolete mitochondrial disorder due to a defect in mitochondrial protein synthesis -MONDO:0012541 deafness with labyrinthine aplasia, microtia, and microdontia MONDO:0019589 Orphanet:90024 Orphanet:90642 obsolete syndromic genetic hearing loss -MONDO:0012541 deafness with labyrinthine aplasia, microtia, and microdontia MONDO:8000032 Orphanet:90024 Orphanet:377789 obsolete malformation syndrome -MONDO:0012544 brachydactyly-syndactyly syndrome MONDO:0017434 Orphanet:93409 Orphanet:294959 obsolete syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy -MONDO:0012544 brachydactyly-syndactyly syndrome MONDO:8000032 Orphanet:93409 Orphanet:377789 obsolete malformation syndrome -MONDO:0012549 autosomal recessive ataxia, Beauce type MONDO:0035862 Orphanet:88644 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome -MONDO:0012556 DK1-congenital disorder of glycosylation MONDO:0018289 Orphanet:91131 Orphanet:371176 obsolete congenital disorder of glycosylation with dilated cardiomyopathy -MONDO:0012556 DK1-congenital disorder of glycosylation MONDO:0018293 Orphanet:91131 Orphanet:371200 obsolete congenital disorder of glycosylation with skin involvement -MONDO:0012556 DK1-congenital disorder of glycosylation MONDO:0029102 Orphanet:91131 Orphanet:281244 obsolete autosomal ichthyosis syndrome with other associated signs -MONDO:0012557 cardiomyopathy-hypotonia-lactic acidosis syndrome MONDO:0026989 Orphanet:91130 Orphanet:217595 obsolete syndrome associated with hypertrophic cardiomyopathy -MONDO:0012559 primary immunodeficiency syndrome due to p14 deficiency MONDO:0018032 Orphanet:90023 Orphanet:331184 obsolete constitutional neutropenia with extra-hematopoietic manifestations -MONDO:0012574 Potocki-Lupski syndrome MONDO:0035863 Orphanet:1713 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0012574 Potocki-Lupski syndrome MONDO:8000032 Orphanet:1713 Orphanet:377789 obsolete malformation syndrome -MONDO:0012579 autoimmune pulmonary alveolar proteinosis MONDO:0017027 Orphanet:747 Orphanet:264740 obsolete primary interstitial lung disease specific to adulthood -MONDO:0012580 hereditary pulmonary alveolar proteinosis MONDO:0015052 Orphanet:264675 Orphanet:100049 obsolete primary interstitial lung disease specific to childhood due to pulmonary surfactant protein anomalies -MONDO:0012580 hereditary pulmonary alveolar proteinosis MONDO:0015133 Orphanet:264675 Orphanet:101985 obsolete quantitative and/or qualitative congenital phagocyte defect -MONDO:0012582 interstitial lung disease due to ABCA3 deficiency MONDO:0015052 Orphanet:440402 Orphanet:100049 obsolete primary interstitial lung disease specific to childhood due to pulmonary surfactant protein anomalies -MONDO:0012588 neuronal ceroid lipofuscinosis 7 MONDO:8000031 Orphanet:228366 Orphanet:557494 obsolete subtype of a disorder -MONDO:0012589 Pitt-Hopkins syndrome MONDO:0035863 Orphanet:2896 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0012589 Pitt-Hopkins syndrome MONDO:8000032 Orphanet:2896 Orphanet:377789 obsolete malformation syndrome -MONDO:0012591 osteogenesis imperfecta type 5 MONDO:8000031 Orphanet:216828 Orphanet:557494 obsolete subtype of a disorder -MONDO:0012593 brain-lung-thyroid syndrome MONDO:0015052 Orphanet:209905 Orphanet:100049 obsolete primary interstitial lung disease specific to childhood due to pulmonary surfactant protein anomalies -MONDO:0012593 brain-lung-thyroid syndrome MONDO:0015778 Orphanet:209905 Orphanet:177107 obsolete syndromic hypothyroidism -MONDO:0012593 brain-lung-thyroid syndrome MONDO:0017646 Orphanet:209905 Orphanet:306719 obsolete neurodegenerative disease with chorea -MONDO:0012593 brain-lung-thyroid syndrome MONDO:0035862 Orphanet:209905 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome -MONDO:0012594 complement factor I deficiency MONDO:0018727 Orphanet:200418 Orphanet:459348 obsolete immunodeficiency due to a complement regulatory deficiency -MONDO:0012596 PSAT deficiency MONDO:8000031 Orphanet:284417 Orphanet:557494 obsolete subtype of a disorder -MONDO:0012608 neuronopathy, distal hereditary motor, autosomal recessive 4 MONDO:0016116 Orphanet:206580 Orphanet:206710 obsolete generalized bulbospinal muscular atrophy -MONDO:0012611 polyhydramnios, megalencephaly, and symptomatic epilepsy MONDO:0035863 Orphanet:500533 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0012621 deafness-infertility syndrome MONDO:0018395 Orphanet:94064 Orphanet:399813 obsolete male infertility due to sperm motility disorder -MONDO:0012621 deafness-infertility syndrome MONDO:0019589 Orphanet:94064 Orphanet:90642 obsolete syndromic genetic hearing loss -MONDO:0012621 deafness-infertility syndrome MONDO:8000032 Orphanet:94064 Orphanet:377789 obsolete malformation syndrome -MONDO:0012622 leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome MONDO:0018157 Orphanet:137898 Orphanet:35696 obsolete mitochondrial disorder due to a defect in mitochondrial protein synthesis -MONDO:0012622 leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome MONDO:0035862 Orphanet:137898 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome -MONDO:0012624 acyl-CoA dehydrogenase 9 deficiency MONDO:0016328 Orphanet:99901 Orphanet:217591 obsolete fatty acid oxidation and ketogenesis disorder with hypertrophic cardiomyopathy -MONDO:0012624 acyl-CoA dehydrogenase 9 deficiency MONDO:0016336 Orphanet:99901 Orphanet:217616 obsolete fatty acid oxidation and ketogenesis disorder with dilated cardiomyopathy -MONDO:0012624 acyl-CoA dehydrogenase 9 deficiency MONDO:0016804 Orphanet:99901 Orphanet:254843 obsolete exercise intolerance with lactic acidosis -MONDO:0012634 craniofacial dysplasia - osteopenia syndrome MONDO:0015336 Orphanet:314555 Orphanet:139042 obsolete malformation syndrome with odontal and/or periodontal component -MONDO:0012634 craniofacial dysplasia - osteopenia syndrome MONDO:0018488 Orphanet:314555 Orphanet:420755 obsolete rare genetic odontal or periodontal disorder -MONDO:0012634 craniofacial dysplasia - osteopenia syndrome MONDO:0035863 Orphanet:314555 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0012634 craniofacial dysplasia - osteopenia syndrome MONDO:0800085 Orphanet:314555 Orphanet:93453 obsolete dysostosis with predominant craniofacial involvement -MONDO:0012634 craniofacial dysplasia - osteopenia syndrome MONDO:8000032 Orphanet:314555 Orphanet:377789 obsolete malformation syndrome -MONDO:0012635 COG8-congenital disorder of glycosylation MONDO:0018287 Orphanet:95428 Orphanet:371071 obsolete congenital disorder of glycosylation with epilepsy as a major feature -MONDO:0012635 COG8-congenital disorder of glycosylation MONDO:0035862 Orphanet:95428 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome -MONDO:0012637 COG1-congenital disorder of glycosylation MONDO:0018284 Orphanet:263508 Orphanet:371047 obsolete congenital disorder of glycosylation with neurological involvement -MONDO:0012637 COG1-congenital disorder of glycosylation MONDO:0018290 Orphanet:263508 Orphanet:371183 obsolete congenital disorder of glycosylation with cardiac malformation as a major feature -MONDO:0012637 COG1-congenital disorder of glycosylation MONDO:0018292 Orphanet:263508 Orphanet:371195 obsolete congenital disorder of glycosylation-related bone disorder -MONDO:0012637 COG1-congenital disorder of glycosylation MONDO:0018295 Orphanet:263508 Orphanet:371212 obsolete congenital disorder of glycosylation with deafness as a major feature -MONDO:0012637 COG1-congenital disorder of glycosylation MONDO:0019711 Orphanet:263508 Orphanet:93454 obsolete dysostosis with predominant vertebral and costal involvement -MONDO:0012637 COG1-congenital disorder of glycosylation MONDO:0035862 Orphanet:263508 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome -MONDO:0012638 microphthalmia-brain atrophy syndrome MONDO:0015918 Orphanet:77299 Orphanet:182070 obsolete rare neurodegenerative disease -MONDO:0012638 microphthalmia-brain atrophy syndrome MONDO:0035863 Orphanet:77299 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0012638 microphthalmia-brain atrophy syndrome MONDO:8000032 Orphanet:77299 Orphanet:377789 obsolete malformation syndrome -MONDO:0012639 hereditary spastic paraplegia 18 MONDO:0015089 Orphanet:209951 Orphanet:100981 obsolete autosomal recessive complex spastic paraplegia -MONDO:0012639 hereditary spastic paraplegia 18 MONDO:0035862 Orphanet:209951 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome -MONDO:0012643 hereditary spastic paraplegia 32 MONDO:0015089 Orphanet:171622 Orphanet:100981 obsolete autosomal recessive complex spastic paraplegia -MONDO:0012648 isobutyryl-CoA dehydrogenase deficiency MONDO:0016337 Orphanet:79159 Orphanet:217619 obsolete syndrome associated with dilated cardiomyopathy -MONDO:0012650 Cernunnos-XLF deficiency MONDO:0015945 Orphanet:169079 Orphanet:183422 obsolete polymalformative genetic syndrome with increased risk of developing cancer -MONDO:0012651 spastic ataxia 2 MONDO:0015089 Orphanet:397946 Orphanet:100981 obsolete autosomal recessive complex spastic paraplegia -MONDO:0012652 autosomal recessive limb-girdle muscular dystrophy type 2L MONDO:0016157 Orphanet:206549 Orphanet:207122 obsolete qualitative or quantitative defects of fukutin -MONDO:0012656 lethal congenital contracture syndrome 3 MONDO:0043008 Orphanet:137783 Orphanet:330206 obsolete genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability -MONDO:0012656 lethal congenital contracture syndrome 3 MONDO:8000032 Orphanet:137783 Orphanet:377789 obsolete malformation syndrome -MONDO:0012658 brachydactyly type B2 MONDO:8000031 Orphanet:140908 Orphanet:557494 obsolete subtype of a disorder -MONDO:0012664 spastic ataxia 3 MONDO:0018157 Orphanet:314603 Orphanet:35696 obsolete mitochondrial disorder due to a defect in mitochondrial protein synthesis -MONDO:0012664 spastic ataxia 3 MONDO:0035862 Orphanet:314603 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome -MONDO:0012669 Legius syndrome MONDO:0035862 Orphanet:137605 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome -MONDO:0012669 Legius syndrome MONDO:8000032 Orphanet:137605 Orphanet:377789 obsolete malformation syndrome -MONDO:0012675 corticosteroid-binding globulin deficiency MONDO:0015124 Orphanet:199247 Orphanet:101954 obsolete rare adrenal disease -MONDO:0012675 corticosteroid-binding globulin deficiency MONDO:0015971 Orphanet:199247 Orphanet:183637 obsolete rare genetic adrenal disease -MONDO:0012675 corticosteroid-binding globulin deficiency MONDO:0027751 Orphanet:199247 Orphanet:250811 obsolete serpinopathy with loss of serpin function -MONDO:0012679 autosomal recessive osteopetrosis 6 MONDO:8000032 Orphanet:210110 Orphanet:377789 obsolete malformation syndrome -MONDO:0012682 immunodeficiency 35 MONDO:0017898 Orphanet:331226 Orphanet:319539 obsolete autosomal recessive mendelian susceptibility to mycobacterial diseases due to a partial deficiency -MONDO:0012683 pontocerebellar hypoplasia type 6 MONDO:0018157 Orphanet:166073 Orphanet:35696 obsolete mitochondrial disorder due to a defect in mitochondrial protein synthesis -MONDO:0012683 pontocerebellar hypoplasia type 6 MONDO:8000032 Orphanet:166073 Orphanet:377789 obsolete malformation syndrome -MONDO:0012687 familial cavitary optic disk anomaly MONDO:8000030 Orphanet:464760 Orphanet:377791 obsolete morphological anomaly -MONDO:0012693 glycogen storage disease due to muscle and heart glycogen synthase deficiency MONDO:0016325 Orphanet:137625 Orphanet:217572 obsolete glycogen storage disease with hypertrophic cardiomyopathy -MONDO:0012693 glycogen storage disease due to muscle and heart glycogen synthase deficiency MONDO:0017693 Orphanet:137625 Orphanet:308520 obsolete glycogen storage disease due to glycogen synthase deficiency -MONDO:0012699 autosomal recessive limb-girdle muscular dystrophy type 2M MONDO:0016157 Orphanet:206554 Orphanet:207122 obsolete qualitative or quantitative defects of fukutin -MONDO:0012699 autosomal recessive limb-girdle muscular dystrophy type 2M MONDO:0016334 Orphanet:206554 Orphanet:217610 obsolete neuromuscular disease with dilated cardiomyopathy -MONDO:0012699 autosomal recessive limb-girdle muscular dystrophy type 2M MONDO:0017745 Orphanet:206554 Orphanet:309469 obsolete disorder of O-mannosylglycan synthesis -MONDO:0012699 autosomal recessive limb-girdle muscular dystrophy type 2M MONDO:0018284 Orphanet:206554 Orphanet:371047 obsolete congenital disorder of glycosylation with neurological involvement -MONDO:0012699 autosomal recessive limb-girdle muscular dystrophy type 2M MONDO:0018289 Orphanet:206554 Orphanet:371176 obsolete congenital disorder of glycosylation with dilated cardiomyopathy -MONDO:0012700 renal tubular acidosis, distal, 4, with hemolytic anemia MONDO:0020101 Orphanet:93610 Orphanet:98364 obsolete constitutional hemolytic anemia due to membrane defect -MONDO:0012700 renal tubular acidosis, distal, 4, with hemolytic anemia MONDO:8000031 Orphanet:93610 Orphanet:557494 obsolete subtype of a disorder -MONDO:0012703 lissencephaly due to TUBA1A mutation MONDO:8000032 Orphanet:171680 Orphanet:377789 obsolete malformation syndrome -MONDO:0012714 early-onset myopathy with fatal cardiomyopathy MONDO:0016110 Orphanet:289377 Orphanet:206656 obsolete non-dystrophic myopathy -MONDO:0012714 early-onset myopathy with fatal cardiomyopathy MONDO:0016334 Orphanet:289377 Orphanet:217610 obsolete neuromuscular disease with dilated cardiomyopathy -MONDO:0012718 hypotonia with lactic acidemia and hyperammonemia MONDO:0018157 Orphanet:137908 Orphanet:35696 obsolete mitochondrial disorder due to a defect in mitochondrial protein synthesis -MONDO:0012719 combined PSAP deficiency MONDO:0018299 Orphanet:139406 Orphanet:371442 obsolete sphingolipidosis with epilepsy -MONDO:0012719 combined PSAP deficiency MONDO:0019058 Orphanet:139406 Orphanet:68385 obsolete neurometabolic disease -MONDO:0012721 progressive myoclonic epilepsy type 3 MONDO:0018284 Orphanet:263516 Orphanet:371047 obsolete congenital disorder of glycosylation with neurological involvement -MONDO:0012721 progressive myoclonic epilepsy type 3 MONDO:0035862 Orphanet:263516 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome -MONDO:0012721 progressive myoclonic epilepsy type 3 MONDO:8000031 Orphanet:263516 Orphanet:557494 obsolete subtype of a disorder -MONDO:0012724 familial cold autoinflammatory syndrome 2 MONDO:0017370 Orphanet:247868 Orphanet:290842 obsolete autoinflammatory syndrome with skin involvement -MONDO:0012726 autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome MONDO:0018790 Orphanet:73229 Orphanet:477765 obsolete COL4A1 or COL4A2-related cerebral small vessel disease with hemorrhagic tendancy -MONDO:0012727 mucocutaneous lymph node syndrome MONDO:0015489 Orphanet:2331 Orphanet:156143 obsolete predominantly medium-vessel vasculitis -MONDO:0012734 SERKAL syndrome MONDO:0017965 Orphanet:139466 Orphanet:325109 obsolete syndrome with 46,XX disorder of sex development -MONDO:0012734 SERKAL syndrome MONDO:8000032 Orphanet:139466 Orphanet:377789 obsolete malformation syndrome -MONDO:0012735 Temple-Baraitser syndrome MONDO:0019285 Orphanet:420561 Orphanet:79370 obsolete syndromic nail anomaly -MONDO:0012735 Temple-Baraitser syndrome MONDO:0035863 Orphanet:420561 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0012739 microtia-eye coloboma-imperforation of the nasolacrimal duct syndrome MONDO:8000032 Orphanet:139450 Orphanet:377789 obsolete malformation syndrome -MONDO:0012740 chromosome 22q11.2 deletion syndrome, distal MONDO:8000032 Orphanet:261330 Orphanet:377789 obsolete malformation syndrome -MONDO:0012747 glycogen storage disease due to aldolase A deficiency MONDO:0020106 Orphanet:57 Orphanet:98372 obsolete hemolytic anemia due to a disorder of glycolytic enzymes -MONDO:0012750 lethal arthrogryposis-anterior horn cell disease syndrome MONDO:8000032 Orphanet:53696 Orphanet:377789 obsolete malformation syndrome -MONDO:0012756 proximal 16p11.2 microdeletion syndrome MONDO:8000032 Orphanet:261197 Orphanet:377789 obsolete malformation syndrome -MONDO:0012757 lung fibrosis-immunodeficiency-46,XX gonadal dysgenesis syndrome MONDO:0017965 Orphanet:137631 Orphanet:325109 obsolete syndrome with 46,XX disorder of sex development -MONDO:0012757 lung fibrosis-immunodeficiency-46,XX gonadal dysgenesis syndrome MONDO:0017978 Orphanet:137631 Orphanet:325638 obsolete syndrome with disorder of sex development of gynecological interest -MONDO:0012757 lung fibrosis-immunodeficiency-46,XX gonadal dysgenesis syndrome MONDO:0028569 Orphanet:137631 Orphanet:264992 obsolete genetic interstitial lung disease -MONDO:0012759 camptodactyly syndrome, Guadalajara type 3 MONDO:0018235 Orphanet:488434 Orphanet:364568 obsolete dysostosis with limb anomaly as a major feature -MONDO:0012759 camptodactyly syndrome, Guadalajara type 3 MONDO:0018455 Orphanet:488434 Orphanet:404571 obsolete dysostosis of genetic origin with limb anomaly as a major feature -MONDO:0012759 camptodactyly syndrome, Guadalajara type 3 MONDO:0035863 Orphanet:488434 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0012759 camptodactyly syndrome, Guadalajara type 3 MONDO:8000032 Orphanet:488434 Orphanet:377789 obsolete malformation syndrome -MONDO:0012761 chromosome 3q29 microduplication syndrome MONDO:8000032 Orphanet:251038 Orphanet:377789 obsolete malformation syndrome -MONDO:0012764 RIDDLE syndrome MONDO:0015707 Orphanet:420741 Orphanet:169346 obsolete DNA repair defect other than combined T-cell and B-cell immunodeficiencies -MONDO:0012764 RIDDLE syndrome MONDO:0020045 Orphanet:420741 Orphanet:98097 obsolete autosomal recessive cerebellar ataxia due to a DNA repair defect -MONDO:0012764 RIDDLE syndrome MONDO:0035862 Orphanet:420741 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome -MONDO:0012764 RIDDLE syndrome MONDO:8000032 Orphanet:420741 Orphanet:377789 obsolete malformation syndrome -MONDO:0012766 hereditary spastic paraplegia 37 MONDO:0015088 Orphanet:171612 Orphanet:100980 obsolete autosomal dominant pure spastic paraplegia -MONDO:0012774 chromosome 15q13.3 microdeletion syndrome MONDO:0015652 Orphanet:199318 Orphanet:166469 obsolete chromosomal anomaly with epilepsy as a major feature -MONDO:0012774 chromosome 15q13.3 microdeletion syndrome MONDO:0020016 Orphanet:199318 Orphanet:98033 obsolete rare neurologic disease with psychiatric involvement -MONDO:0012774 chromosome 15q13.3 microdeletion syndrome MONDO:0035863 Orphanet:199318 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0012774 chromosome 15q13.3 microdeletion syndrome MONDO:8000032 Orphanet:199318 Orphanet:377789 obsolete malformation syndrome -MONDO:0012783 RFT1-congenital disorder of glycosylation MONDO:0018287 Orphanet:244310 Orphanet:371071 obsolete congenital disorder of glycosylation with epilepsy as a major feature -MONDO:0012783 RFT1-congenital disorder of glycosylation MONDO:0018288 Orphanet:244310 Orphanet:371157 obsolete congenital disorder of glycosylation with hepatic involvement -MONDO:0012783 RFT1-congenital disorder of glycosylation MONDO:0018295 Orphanet:244310 Orphanet:371212 obsolete congenital disorder of glycosylation with deafness as a major feature -MONDO:0012783 RFT1-congenital disorder of glycosylation MONDO:0035862 Orphanet:244310 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome -MONDO:0012784 autosomal recessive ataxia due to ubiquinone deficiency MONDO:0035862 Orphanet:139485 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome -MONDO:0012786 juvenile cataract-microcornea-renal glucosuria syndrome MONDO:0019743 Orphanet:247794 Orphanet:93593 obsolete nephropathy secondary to a storage or other metabolic disease -MONDO:0012786 juvenile cataract-microcornea-renal glucosuria syndrome MONDO:0020225 Orphanet:247794 Orphanet:98641 obsolete syndromic cataract -MONDO:0012787 hereditary spastic paraplegia 39 MONDO:0015089 Orphanet:139480 Orphanet:100981 obsolete autosomal recessive complex spastic paraplegia -MONDO:0012787 hereditary spastic paraplegia 39 MONDO:0018118 Orphanet:139480 Orphanet:352306 obsolete disorder of phospholipids, sphingolipids and fatty acids biosynthesis with central nervous system predominant involvement -MONDO:0012789 dystonia 16 MONDO:0017635 Orphanet:210571 Orphanet:306666 obsolete parkinsonian syndrome due to neurodegenerative disease -MONDO:0012789 dystonia 16 MONDO:0017661 Orphanet:210571 Orphanet:307055 obsolete rare parkinsonian syndrome due to genetic neurodegenerative disease -MONDO:0012789 dystonia 16 MONDO:0018329 Orphanet:210571 Orphanet:391711 obsolete persistent combined dystonia -MONDO:0012791 mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria MONDO:0035862 Orphanet:1933 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome -MONDO:0012792 mitochondrial DNA depletion syndrome 8a MONDO:0035862 Orphanet:255235 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome -MONDO:0012794 ANE syndrome MONDO:0015890 Orphanet:157954 Orphanet:181387 obsolete rare disorder with congenital hypogonadotropic hypogonadism -MONDO:0012794 ANE syndrome MONDO:0019827 Orphanet:157954 Orphanet:95495 obsolete disease associated with non-acquired combined pituitary hormone deficiency -MONDO:0012794 ANE syndrome MONDO:0021034 Orphanet:157954 Orphanet:481771 obsolete hereditary alopecia -MONDO:0012794 ANE syndrome MONDO:0035862 Orphanet:157954 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome -MONDO:0012802 oculoauricular syndrome MONDO:8000032 Orphanet:157962 Orphanet:377789 obsolete malformation syndrome -MONDO:0012803 diarrhea-vomiting due to trehalase deficiency MONDO:0015181 Orphanet:103909 Orphanet:104006 obsolete congenital intestinal disease due to an enzymatic defect -MONDO:0012805 childhood onset GLUT1 deficiency syndrome 2 MONDO:0035862 Orphanet:98811 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome -MONDO:0012807 epidermolysis bullosa simplex 5C, with pyloric atresia MONDO:0035685 Orphanet:158684 Orphanet:595351 obsolete epidermolysis bullosa simplex with extracutaneous involvement -MONDO:0012809 histiocytoma, Angiomatoid fibrous MONDO:0019300 Orphanet:569164 Orphanet:79386 obsolete rare skin tumor or hamartoma -MONDO:0012812 developmental and epileptic encephalopathy, 4 MONDO:0035862 Orphanet:599373 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome -MONDO:0012815 Coats plus syndrome MONDO:0018787 Orphanet:313838 Orphanet:477754 obsolete genetic cerebral small vessel disease -MONDO:0012815 Coats plus syndrome MONDO:0034954 Orphanet:313838 Orphanet:519327 obsolete syndromic vitreoretinopathy -MONDO:0012824 hypomyelinating leukodystrophy 4 MONDO:8000031 Orphanet:280288 Orphanet:557494 obsolete subtype of a disorder -MONDO:0012830 chromosome 10q23 deletion syndrome MONDO:8000032 Orphanet:276413 Orphanet:377789 obsolete malformation syndrome -MONDO:0012833 Crouzon syndrome-acanthosis nigricans syndrome MONDO:0020254 Orphanet:93262 Orphanet:98684 obsolete craniostenosis associated with a strabismus -MONDO:0012833 Crouzon syndrome-acanthosis nigricans syndrome MONDO:8000032 Orphanet:93262 Orphanet:377789 obsolete malformation syndrome -MONDO:0012853 Fontaine progeroid syndrome MONDO:0020253 Orphanet:2963 Orphanet:98683 obsolete syndrome with a symptomatic strabismus -MONDO:0012853 Fontaine progeroid syndrome MONDO:0043008 Orphanet:2095 Orphanet:330206 obsolete genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability -MONDO:0012853 Fontaine progeroid syndrome MONDO:8000032 Orphanet:2095 Orphanet:377789 obsolete malformation syndrome -MONDO:0012853 Fontaine progeroid syndrome MONDO:8000032 Orphanet:2963 Orphanet:377789 obsolete malformation syndrome -MONDO:0012854 bilateral microtia-deafness-cleft palate syndrome MONDO:0015335 Orphanet:140963 Orphanet:139039 obsolete Mendelian syndromes with cleft lip/palate -MONDO:0012854 bilateral microtia-deafness-cleft palate syndrome MONDO:0019589 Orphanet:140963 Orphanet:90642 obsolete syndromic genetic hearing loss -MONDO:0012854 bilateral microtia-deafness-cleft palate syndrome MONDO:8000032 Orphanet:140963 Orphanet:377789 obsolete malformation syndrome -MONDO:0012856 Birk-Barel syndrome MONDO:0035862 Orphanet:166108 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome -MONDO:0012858 primary CD59 deficiency MONDO:0018727 Orphanet:169464 Orphanet:459348 obsolete immunodeficiency due to a complement regulatory deficiency -MONDO:0012858 primary CD59 deficiency MONDO:0020101 Orphanet:169464 Orphanet:98364 obsolete constitutional hemolytic anemia due to membrane defect -MONDO:0012859 autosomal recessive osteopetrosis 7 MONDO:0018041 Orphanet:178389 Orphanet:331244 obsolete other immunodeficiency syndrome with predominantly antibody defects -MONDO:0012864 chromosome 2q32-q33 deletion syndrome MONDO:0035863 Orphanet:251019 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0012864 chromosome 2q32-q33 deletion syndrome MONDO:8000031 Orphanet:576283 Orphanet:557494 obsolete subtype of a disorder -MONDO:0012864 chromosome 2q32-q33 deletion syndrome MONDO:8000032 Orphanet:251019 Orphanet:377789 obsolete malformation syndrome -MONDO:0012866 hereditary spastic paraplegia 35 MONDO:0015089 Orphanet:171629 Orphanet:100981 obsolete autosomal recessive complex spastic paraplegia -MONDO:0012868 thrombophilia due to protein S deficiency, autosomal dominant MONDO:0016634 Orphanet:26349 Orphanet:248365 obsolete thrombotic disorder due to an acquired coagulation factors defect -MONDO:0012873 Ehlers-Danlos syndrome, spondylocheirodysplastic type MONDO:8000031 Orphanet:157965 Orphanet:557494 obsolete subtype of a disorder -MONDO:0012883 acute promyelocytic leukemia MONDO:0020078 Orphanet:520 Orphanet:98277 obsolete acute myeloid leukemia with recurrent genetic anomaly -MONDO:0012885 SRD5A3-congenital disorder of glycosylation MONDO:0018284 Orphanet:324737 Orphanet:371047 obsolete congenital disorder of glycosylation with neurological involvement -MONDO:0012885 SRD5A3-congenital disorder of glycosylation MONDO:0018293 Orphanet:324737 Orphanet:371200 obsolete congenital disorder of glycosylation with skin involvement -MONDO:0012885 SRD5A3-congenital disorder of glycosylation MONDO:0035862 Orphanet:324737 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome -MONDO:0012892 bone fragility with contractures, arterial rupture, and deafness MONDO:0015332 Orphanet:300284 Orphanet:139030 obsolete rare developmental defect with connective tissue involvement -MONDO:0012892 bone fragility with contractures, arterial rupture, and deafness MONDO:0019589 Orphanet:300284 Orphanet:90642 obsolete syndromic genetic hearing loss -MONDO:0012897 congenital factor XI deficiency MONDO:0019039 Orphanet:329 Orphanet:68334 obsolete rare hemorrhagic disorder due to a constitutional coagulation factors defect -MONDO:0012901 inherited prekallikrein deficiency MONDO:0019039 Orphanet:749 Orphanet:68334 obsolete rare hemorrhagic disorder due to a constitutional coagulation factors defect -MONDO:0012907 blindness - scoliosis - arachnodactyly syndrome MONDO:0015332 Orphanet:171844 Orphanet:139030 obsolete rare developmental defect with connective tissue involvement -MONDO:0012907 blindness - scoliosis - arachnodactyly syndrome MONDO:0034937 Orphanet:171844 Orphanet:519292 obsolete syndromic ectopia lentis -MONDO:0012907 blindness - scoliosis - arachnodactyly syndrome MONDO:0034953 Orphanet:171844 Orphanet:519325 obsolete syndromic inherited retinal disorder -MONDO:0012907 blindness - scoliosis - arachnodactyly syndrome MONDO:8000032 Orphanet:171844 Orphanet:377789 obsolete malformation syndrome -MONDO:0012911 pseudohypoparathyroidism type 1C MONDO:0018699 Orphanet:79444 Orphanet:457059 obsolete pseudohypoparathyroidism with Albright hereditary osteodystrophy -MONDO:0012912 pseudopseudohypoparathyroidism MONDO:0018699 Orphanet:79445 Orphanet:457059 obsolete pseudohypoparathyroidism with Albright hereditary osteodystrophy -MONDO:0012914 chromosome 1q21.1 deletion syndrome MONDO:8000032 Orphanet:250989 Orphanet:377789 obsolete malformation syndrome -MONDO:0012915 chromosome 1q21.1 duplication syndrome MONDO:8000032 Orphanet:250994 Orphanet:377789 obsolete malformation syndrome -MONDO:0012916 chromosome 2p16.1-p15 deletion syndrome MONDO:8000032 Orphanet:261349 Orphanet:377789 obsolete malformation syndrome -MONDO:0012927 chromosome 1q41-q42 deletion syndrome MONDO:8000032 Orphanet:250999 Orphanet:377789 obsolete malformation syndrome -MONDO:0012928 hereditary spastic paraplegia 42 MONDO:0015088 Orphanet:171863 Orphanet:100980 obsolete autosomal dominant pure spastic paraplegia -MONDO:0012948 chromosome 6pter-p24 deletion syndrome MONDO:0020222 Orphanet:96125 Orphanet:98638 obsolete rare disease with glaucoma as a major feature -MONDO:0012948 chromosome 6pter-p24 deletion syndrome MONDO:0035863 Orphanet:96125 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0012948 chromosome 6pter-p24 deletion syndrome MONDO:8000032 Orphanet:96125 Orphanet:377789 obsolete malformation syndrome -MONDO:0012964 chromosome 15q26-qter deletion syndrome MONDO:8000032 Orphanet:1596 Orphanet:377789 obsolete malformation syndrome -MONDO:0012967 hemolytic anemia due to adenylate kinase deficiency MONDO:0020107 Orphanet:86817 Orphanet:98374 obsolete hemolytic anemia due to an erythrocyte nucleotide metabolism disorder -MONDO:0012980 endocrine-cerebro-osteodysplasia syndrome MONDO:0018236 Orphanet:199332 Orphanet:364571 obsolete dysostosis with limb and face anomalies as a major feature -MONDO:0012980 endocrine-cerebro-osteodysplasia syndrome MONDO:0018731 Orphanet:199332 Orphanet:459787 obsolete lethal multiple congenital anomalies/dysmorphic syndrome -MONDO:0012980 endocrine-cerebro-osteodysplasia syndrome MONDO:0020999 Orphanet:199332 Orphanet:101960 obsolete genetic chronic primary adrenal insufficiency -MONDO:0012980 endocrine-cerebro-osteodysplasia syndrome MONDO:8000032 Orphanet:199332 Orphanet:377789 obsolete malformation syndrome -MONDO:0012984 PHARC syndrome MONDO:0016132 Orphanet:171848 Orphanet:207015 obsolete rare hereditary disease with peripheral neuropathy -MONDO:0012984 PHARC syndrome MONDO:0018119 Orphanet:171848 Orphanet:352309 obsolete disorder of phospholipids, sphingolipids and fatty acids biosynthesis with peripheral nerves predominant involvement -MONDO:0012984 PHARC syndrome MONDO:0019589 Orphanet:171848 Orphanet:90642 obsolete syndromic genetic hearing loss -MONDO:0012984 PHARC syndrome MONDO:0020240 Orphanet:171848 Orphanet:98661 obsolete syndromic retinitis pigmentosa -MONDO:0012986 bilateral parasagittal parieto-occipital polymicrogyria MONDO:8000031 Orphanet:208441 Orphanet:557494 obsolete subtype of a disorder -MONDO:0012992 pancreatic insufficiency-anemia-hyperostosis syndrome MONDO:0015112 Orphanet:199337 Orphanet:101937 obsolete rare pancreatic disease -MONDO:0012992 pancreatic insufficiency-anemia-hyperostosis syndrome MONDO:0015618 Orphanet:199337 Orphanet:165661 obsolete genetic pancreatic disease -MONDO:0012992 pancreatic insufficiency-anemia-hyperostosis syndrome MONDO:0016578 Orphanet:199337 Orphanet:2443 obsolete mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies -MONDO:0012992 pancreatic insufficiency-anemia-hyperostosis syndrome MONDO:0017397 Orphanet:199337 Orphanet:293830 obsolete constitutional dyserythropoietic anemia -MONDO:0012994 dopa-responsive dystonia due to sepiapterin reductase deficiency MONDO:0035862 Orphanet:70594 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome -MONDO:0012996 AGAT deficiency MONDO:0019058 Orphanet:35704 Orphanet:68385 obsolete neurometabolic disease -MONDO:0012997 cholestasis-pigmentary retinopathy-cleft palate syndrome MONDO:0015335 Orphanet:1415 Orphanet:139039 obsolete Mendelian syndromes with cleft lip/palate -MONDO:0012997 cholestasis-pigmentary retinopathy-cleft palate syndrome MONDO:0020240 Orphanet:1415 Orphanet:98661 obsolete syndromic retinitis pigmentosa -MONDO:0012997 cholestasis-pigmentary retinopathy-cleft palate syndrome MONDO:8000032 Orphanet:1415 Orphanet:377789 obsolete malformation syndrome -MONDO:0012999 guanidinoacetate methyltransferase deficiency MONDO:0019058 Orphanet:382 Orphanet:68385 obsolete neurometabolic disease -MONDO:0012999 guanidinoacetate methyltransferase deficiency MONDO:0035862 Orphanet:382 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome -MONDO:0013003 isolated congenital hypoglossia/aglossia MONDO:0015497 Orphanet:141152 Orphanet:156212 obsolete hypoglossia/aglossia -MONDO:0013003 isolated congenital hypoglossia/aglossia MONDO:8000030 Orphanet:141152 Orphanet:377791 obsolete morphological anomaly -MONDO:0013005 EAST syndrome MONDO:0015922 Orphanet:199343 Orphanet:182083 obsolete channelopathy with epilepsy -MONDO:0013005 EAST syndrome MONDO:0019589 Orphanet:199343 Orphanet:90642 obsolete syndromic genetic hearing loss -MONDO:0013005 EAST syndrome MONDO:0019744 Orphanet:199343 Orphanet:93603 obsolete rare renal tubular disease -MONDO:0013005 EAST syndrome MONDO:0035862 Orphanet:199343 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome -MONDO:0013006 isolated growth hormone deficiency type IB MONDO:8000031 Orphanet:231671 Orphanet:557494 obsolete subtype of a disorder -MONDO:0013007 combined immunodeficiency due to ORAI1 deficiency MONDO:8000031 Orphanet:317428 Orphanet:557494 obsolete subtype of a disorder -MONDO:0013008 combined immunodeficiency due to STIM1 deficiency MONDO:8000031 Orphanet:317430 Orphanet:557494 obsolete subtype of a disorder -MONDO:0013014 spondyloepimetaphyseal dysplasia, aggrecan type MONDO:0018239 Orphanet:171866 Orphanet:364817 obsolete aggrecan-related bone disorder -MONDO:0013016 leukocyte adhesion deficiency 3 MONDO:8000031 Orphanet:99844 Orphanet:557494 obsolete subtype of a disorder -MONDO:0013021 sterile multifocal osteomyelitis with periostitis and pustulosis MONDO:0017369 Orphanet:210115 Orphanet:290839 obsolete autoinflammatory syndrome with immune deficiency -MONDO:0013021 sterile multifocal osteomyelitis with periostitis and pustulosis MONDO:0017370 Orphanet:210115 Orphanet:290842 obsolete autoinflammatory syndrome with skin involvement -MONDO:0013021 sterile multifocal osteomyelitis with periostitis and pustulosis MONDO:0017954 Orphanet:210115 Orphanet:324927 obsolete pyogenic autoinflammatory syndrome -MONDO:0013021 sterile multifocal osteomyelitis with periostitis and pustulosis MONDO:0800092 Orphanet:210115 Orphanet:498445 obsolete hereditary inflammatory or rheumatoid-like osteoarthropathy -MONDO:0013024 chronic thromboembolic pulmonary hypertension MONDO:0019096 Orphanet:70591 Orphanet:71198 obsolete rare pulmonary hypertension -MONDO:0013025 chromosome 6q24-q25 deletion syndrome MONDO:8000032 Orphanet:251056 Orphanet:377789 obsolete malformation syndrome -MONDO:0013028 adenosine monophosphate deaminase deficiency MONDO:0019058 Orphanet:45 Orphanet:68385 obsolete neurometabolic disease -MONDO:0013035 orofaciodigital syndrome XI MONDO:8000032 Orphanet:141000 Orphanet:377789 obsolete malformation syndrome -MONDO:0013036 Zechi-Ceide syndrome MONDO:0035863 Orphanet:217017 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0013036 Zechi-Ceide syndrome MONDO:8000032 Orphanet:217017 Orphanet:377789 obsolete malformation syndrome -MONDO:0013038 CLOVES syndrome MONDO:0015949 Orphanet:140944 Orphanet:183484 obsolete rare genetic subcutaneous tissue disorder -MONDO:0013038 CLOVES syndrome MONDO:0016235 Orphanet:140944 Orphanet:211277 obsolete complex vascular malformation with associated anomalies -MONDO:0013038 CLOVES syndrome MONDO:0017414 Orphanet:140944 Orphanet:294057 obsolete rare nevus -MONDO:0013038 CLOVES syndrome MONDO:0033927 Orphanet:140944 Orphanet:459537 obsolete genetic complex vascular malformation with associated anomalies -MONDO:0013038 CLOVES syndrome MONDO:0035162 Orphanet:140944 Orphanet:530313 obsolete PIK3CA-related overgrowth syndrome -MONDO:0013038 CLOVES syndrome MONDO:0800091 Orphanet:140944 Orphanet:498448 obsolete overgrowth or tall stature syndrome with skeletal involvement -MONDO:0013038 CLOVES syndrome MONDO:8000032 Orphanet:140944 Orphanet:377789 obsolete malformation syndrome -MONDO:0013046 glycogen storage disease due to muscle beta-enolase deficiency MONDO:0016118 Orphanet:99849 Orphanet:206959 obsolete muscular glycogenosis -MONDO:0013047 glycogen storage disease due to lactate dehydrogenase M-subunit deficiency MONDO:0016118 Orphanet:284426 Orphanet:206959 obsolete muscular glycogenosis -MONDO:0013047 glycogen storage disease due to lactate dehydrogenase M-subunit deficiency MONDO:8000031 Orphanet:284426 Orphanet:557494 obsolete subtype of a disorder -MONDO:0013049 DPM3-congenital disorder of glycosylation MONDO:0018284 Orphanet:263494 Orphanet:371047 obsolete congenital disorder of glycosylation with neurological involvement -MONDO:0013049 DPM3-congenital disorder of glycosylation MONDO:0018289 Orphanet:263494 Orphanet:371176 obsolete congenital disorder of glycosylation with dilated cardiomyopathy -MONDO:0013049 DPM3-congenital disorder of glycosylation MONDO:0035862 Orphanet:263494 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome -MONDO:0013050 lethal polymalformative syndrome, Boissel type MONDO:0018731 Orphanet:210144 Orphanet:459787 obsolete lethal multiple congenital anomalies/dysmorphic syndrome -MONDO:0013050 lethal polymalformative syndrome, Boissel type MONDO:8000032 Orphanet:210144 Orphanet:377789 obsolete malformation syndrome -MONDO:0013053 microcephaly-facio-cardio-skeletal syndrome, Hadziselimovic type MONDO:0015329 Orphanet:217026 Orphanet:139021 obsolete malformation syndrome with short stature -MONDO:0013053 microcephaly-facio-cardio-skeletal syndrome, Hadziselimovic type MONDO:0015506 Orphanet:217026 Orphanet:156532 obsolete rare syndrome with cardiac malformations -MONDO:0013053 microcephaly-facio-cardio-skeletal syndrome, Hadziselimovic type MONDO:0026187 Orphanet:217026 Orphanet:183570 obsolete genetic malformation syndrome with short stature -MONDO:0013053 microcephaly-facio-cardio-skeletal syndrome, Hadziselimovic type MONDO:0043008 Orphanet:217026 Orphanet:330206 obsolete genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability -MONDO:0013053 microcephaly-facio-cardio-skeletal syndrome, Hadziselimovic type MONDO:8000032 Orphanet:217026 Orphanet:377789 obsolete malformation syndrome -MONDO:0013060 autosomal recessive Parkinson disease 14 MONDO:0017635 Orphanet:199351 Orphanet:306666 obsolete parkinsonian syndrome due to neurodegenerative disease -MONDO:0013060 autosomal recessive Parkinson disease 14 MONDO:0017661 Orphanet:199351 Orphanet:307055 obsolete rare parkinsonian syndrome due to genetic neurodegenerative disease -MONDO:0013060 autosomal recessive Parkinson disease 14 MONDO:0018329 Orphanet:199351 Orphanet:391711 obsolete persistent combined dystonia -MONDO:0013069 autosomal recessive optic atrophy, OPA7 type MONDO:0016799 Orphanet:227976 Orphanet:254822 obsolete mitochondrial oxidative phosphorylation disorder with no known mechanism -MONDO:0013069 autosomal recessive optic atrophy, OPA7 type MONDO:0018609 Orphanet:227976 Orphanet:441434 obsolete syndromic hereditary optic neuropathy -MONDO:0013074 encephalocraniocutaneous lipomatosis MONDO:0015949 Orphanet:2396 Orphanet:183484 obsolete rare genetic subcutaneous tissue disorder -MONDO:0013074 encephalocraniocutaneous lipomatosis MONDO:0015950 Orphanet:2396 Orphanet:183487 obsolete inherited skin tumor -MONDO:0013082 Hirschsprung disease-ganglioneuroblastoma syndrome MONDO:0015184 Orphanet:2151 Orphanet:104009 obsolete rare disease involving intestinal motility -MONDO:0013082 Hirschsprung disease-ganglioneuroblastoma syndrome MONDO:8000032 Orphanet:2151 Orphanet:377789 obsolete malformation syndrome -MONDO:0013090 chromosome 19q13.11 deletion syndrome MONDO:0035863 Orphanet:217346 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0013090 chromosome 19q13.11 deletion syndrome MONDO:8000032 Orphanet:217346 Orphanet:377789 obsolete malformation syndrome -MONDO:0013099 combined pituitary hormone deficiencies, genetic form MONDO:0015789 Orphanet:95494 Orphanet:178025 obsolete non-acquired combined pituitary hormone deficiencies without extra-pituitary malformations -MONDO:0013099 combined pituitary hormone deficiencies, genetic form MONDO:0015891 Orphanet:95494 Orphanet:181390 obsolete hypogonadotropic hypogonadism associated with other endocrinopathies -MONDO:0013110 neurodegenerative syndrome due to cerebral folate transport deficiency MONDO:0015918 Orphanet:217382 Orphanet:182070 obsolete rare neurodegenerative disease -MONDO:0013110 neurodegenerative syndrome due to cerebral folate transport deficiency MONDO:0016406 Orphanet:217382 Orphanet:225713 obsolete other metabolic disease with epilepsy -MONDO:0013110 neurodegenerative syndrome due to cerebral folate transport deficiency MONDO:0019058 Orphanet:217382 Orphanet:68385 obsolete neurometabolic disease -MONDO:0013111 acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins MONDO:0015114 Orphanet:217371 Orphanet:101939 obsolete rare parenchymal liver disease -MONDO:0013111 acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins MONDO:0015115 Orphanet:217371 Orphanet:101940 obsolete rare genetic metabolic liver disease -MONDO:0013111 acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins MONDO:0015508 Orphanet:217371 Orphanet:156604 obsolete hereditary parenchymatous liver disease -MONDO:0013111 acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins MONDO:0018157 Orphanet:217371 Orphanet:35696 obsolete mitochondrial disorder due to a defect in mitochondrial protein synthesis -MONDO:0013115 RIN2 syndrome MONDO:0035863 Orphanet:217335 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0013115 RIN2 syndrome MONDO:8000032 Orphanet:217335 Orphanet:377789 obsolete malformation syndrome -MONDO:0013116 congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome MONDO:0016578 Orphanet:330054 Orphanet:2443 obsolete mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies -MONDO:0013116 congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome MONDO:0019589 Orphanet:330054 Orphanet:90642 obsolete syndromic genetic hearing loss -MONDO:0013116 congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome MONDO:0020225 Orphanet:330054 Orphanet:98641 obsolete syndromic cataract -MONDO:0013116 congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome MONDO:0035862 Orphanet:330054 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome -MONDO:0013118 Nijmegen breakage syndrome-like disorder MONDO:0015707 Orphanet:240760 Orphanet:169346 obsolete DNA repair defect other than combined T-cell and B-cell immunodeficiencies -MONDO:0013118 Nijmegen breakage syndrome-like disorder MONDO:0015945 Orphanet:240760 Orphanet:183422 obsolete polymalformative genetic syndrome with increased risk of developing cancer -MONDO:0013118 Nijmegen breakage syndrome-like disorder MONDO:0043008 Orphanet:240760 Orphanet:330206 obsolete genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability -MONDO:0013118 Nijmegen breakage syndrome-like disorder MONDO:8000032 Orphanet:240760 Orphanet:377789 obsolete malformation syndrome -MONDO:0013125 CLAPO syndrome MONDO:0016235 Orphanet:168984 Orphanet:211277 obsolete complex vascular malformation with associated anomalies -MONDO:0013125 CLAPO syndrome MONDO:8000032 Orphanet:168984 Orphanet:377789 obsolete malformation syndrome -MONDO:0013127 asphyxiating thoracic dystrophy 3 MONDO:0015246 Orphanet:93270 Orphanet:117573 obsolete syndromic anorectal malformation -MONDO:0013127 asphyxiating thoracic dystrophy 3 MONDO:0015246 Orphanet:93271 Orphanet:117573 obsolete syndromic anorectal malformation -MONDO:0013127 asphyxiating thoracic dystrophy 3 MONDO:8000032 Orphanet:93270 Orphanet:377789 obsolete malformation syndrome -MONDO:0013127 asphyxiating thoracic dystrophy 3 MONDO:8000032 Orphanet:93271 Orphanet:377789 obsolete malformation syndrome -MONDO:0013128 familial juvenile hyperuricemic nephropathy type 2 MONDO:8000031 Orphanet:217330 Orphanet:557494 obsolete subtype of a disorder -MONDO:0013136 hereditary hypotrichosis with recurrent skin vesicles MONDO:0021034 Orphanet:217407 Orphanet:481771 obsolete hereditary alopecia -MONDO:0013143 hereditary thrombophilia due to congenital histidine-rich (poly-L) glycoprotein deficiency MONDO:0016320 Orphanet:217467 Orphanet:217454 obsolete rare hereditary thrombophilia -MONDO:0013144 hereditary antithrombin deficiency MONDO:0016320 Orphanet:82 Orphanet:217454 obsolete rare hereditary thrombophilia -MONDO:0013144 hereditary antithrombin deficiency MONDO:0027751 Orphanet:82 Orphanet:250811 obsolete serpinopathy with loss of serpin function -MONDO:0013150 parkinsonism-dystonia, infantile MONDO:0017635 Orphanet:238455 Orphanet:306666 obsolete parkinsonian syndrome due to neurodegenerative disease -MONDO:0013150 parkinsonism-dystonia, infantile MONDO:0017661 Orphanet:238455 Orphanet:307055 obsolete rare parkinsonian syndrome due to genetic neurodegenerative disease -MONDO:0013150 parkinsonism-dystonia, infantile MONDO:0018329 Orphanet:238455 Orphanet:391711 obsolete persistent combined dystonia -MONDO:0013150 parkinsonism-dystonia, infantile MONDO:0035862 Orphanet:238455 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome -MONDO:0013161 autosomal recessive limb-girdle muscular dystrophy type 2O MONDO:0016182 Orphanet:206564 Orphanet:209024 obsolete qualitative or quantitative defects of protein O-mannose beta1, 2N-acetylglucosaminyltransferase -MONDO:0013161 autosomal recessive limb-girdle muscular dystrophy type 2O MONDO:0017745 Orphanet:206564 Orphanet:309469 obsolete disorder of O-mannosylglycan synthesis -MONDO:0013161 autosomal recessive limb-girdle muscular dystrophy type 2O MONDO:0018284 Orphanet:206564 Orphanet:371047 obsolete congenital disorder of glycosylation with neurological involvement -MONDO:0013162 autosomal recessive limb-girdle muscular dystrophy type 2N MONDO:0017745 Orphanet:206559 Orphanet:309469 obsolete disorder of O-mannosylglycan synthesis -MONDO:0013162 autosomal recessive limb-girdle muscular dystrophy type 2N MONDO:0018284 Orphanet:206559 Orphanet:371047 obsolete congenital disorder of glycosylation with neurological involvement -MONDO:0013162 autosomal recessive limb-girdle muscular dystrophy type 2N MONDO:0035862 Orphanet:206559 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome -MONDO:0013164 beta-ureidopropionase deficiency MONDO:0016404 Orphanet:65287 Orphanet:225707 obsolete metabolic neurotransmission anomaly with epilepsy -MONDO:0013164 beta-ureidopropionase deficiency MONDO:0019058 Orphanet:65287 Orphanet:68385 obsolete neurometabolic disease -MONDO:0013165 hereditary spastic paraplegia 45 MONDO:0017915 Orphanet:320396 Orphanet:320346 obsolete pure or complex autosomal recessive spastic paraplegia -MONDO:0013165 hereditary spastic paraplegia 45 MONDO:0035862 Orphanet:320396 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome -MONDO:0013166 GABA aminotransaminase deficiency MONDO:0016404 Orphanet:2066 Orphanet:225707 obsolete metabolic neurotransmission anomaly with epilepsy -MONDO:0013166 GABA aminotransaminase deficiency MONDO:0019058 Orphanet:2066 Orphanet:68385 obsolete neurometabolic disease -MONDO:0013166 GABA aminotransaminase deficiency MONDO:0019224 Orphanet:2066 Orphanet:79175 obsolete inborn disorder of gamma-aminobutyric acid metabolism -MONDO:0013169 chromosome 5p13 duplication syndrome MONDO:0035863 Orphanet:329802 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0013169 chromosome 5p13 duplication syndrome MONDO:8000032 Orphanet:329802 Orphanet:377789 obsolete malformation syndrome -MONDO:0013170 cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies MONDO:8000032 Orphanet:221145 Orphanet:377789 obsolete malformation syndrome -MONDO:0013171 purine nucleoside phosphorylase deficiency MONDO:0035862 Orphanet:760 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome -MONDO:0013172 polymicrogyria with optic nerve hypoplasia MONDO:0015310 Orphanet:250972 Orphanet:137905 obsolete syndromic optic nerve hypoplasia -MONDO:0013172 polymicrogyria with optic nerve hypoplasia MONDO:0015655 Orphanet:250972 Orphanet:166478 obsolete cerebral malformation with epilepsy -MONDO:0013172 polymicrogyria with optic nerve hypoplasia MONDO:0017120 Orphanet:250972 Orphanet:269531 obsolete other syndrome with a central nervous system malformation as major feature -MONDO:0013172 polymicrogyria with optic nerve hypoplasia MONDO:0035863 Orphanet:250972 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0013172 polymicrogyria with optic nerve hypoplasia MONDO:8000032 Orphanet:250972 Orphanet:377789 obsolete malformation syndrome -MONDO:0013176 Weill-Marchesani 4 syndrome, recessive MONDO:0015331 Orphanet:363992 Orphanet:139027 obsolete malformation syndrome with skin/mucosae involvement -MONDO:0013176 Weill-Marchesani 4 syndrome, recessive MONDO:0029102 Orphanet:363992 Orphanet:281244 obsolete autosomal ichthyosis syndrome with other associated signs -MONDO:0013177 congenital muscular dystrophy due to integrin alpha-7 deficiency MONDO:0016150 Orphanet:34520 Orphanet:207098 obsolete qualitative or quantitative defects of integrin alpha-7 -MONDO:0013178 congenital muscular dystrophy due to LMNA mutation MONDO:0029810 Orphanet:157973 Orphanet:300755 obsolete laminopathy with striated muscle involvement -MONDO:0013179 hereditary spastic paraplegia 44 MONDO:0015089 Orphanet:320401 Orphanet:100981 obsolete autosomal recessive complex spastic paraplegia -MONDO:0013182 chromosome 17p13.3 duplication syndrome MONDO:0035863 Orphanet:217385 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0013182 chromosome 17p13.3 duplication syndrome MONDO:8000032 Orphanet:217385 Orphanet:377789 obsolete malformation syndrome -MONDO:0013184 congenital diarrhea 5 with tufting enteropathy MONDO:0015182 Orphanet:92050 Orphanet:104007 obsolete congenital enteropathy involving intestinal mucosa development -MONDO:0013184 congenital diarrhea 5 with tufting enteropathy MONDO:0019126 Orphanet:92050 Orphanet:73014 obsolete intractable diarrhea of infancy -MONDO:0013184 congenital diarrhea 5 with tufting enteropathy MONDO:0031697 Orphanet:92050 Orphanet:363300 obsolete genetic intractable diarrhea of infancy -MONDO:0013208 cirrhosis - dystonia - polycythemia - hypermanganesemia syndrome MONDO:0015115 Orphanet:309854 Orphanet:101940 obsolete rare genetic metabolic liver disease -MONDO:0013208 cirrhosis - dystonia - polycythemia - hypermanganesemia syndrome MONDO:0017635 Orphanet:309854 Orphanet:306666 obsolete parkinsonian syndrome due to neurodegenerative disease -MONDO:0013208 cirrhosis - dystonia - polycythemia - hypermanganesemia syndrome MONDO:0017661 Orphanet:309854 Orphanet:307055 obsolete rare parkinsonian syndrome due to genetic neurodegenerative disease -MONDO:0013222 Miyoshi muscular dystrophy 3 MONDO:0016109 Orphanet:399096 Orphanet:206653 obsolete autosomal recessive distal myopathy -MONDO:0013223 autosomal recessive spondylometaphyseal dysplasia, Megarbane type MONDO:8000032 Orphanet:401979 Orphanet:377789 obsolete malformation syndrome -MONDO:0013226 combined immunodeficiency with faciooculoskeletal anomalies MONDO:0017432 Orphanet:221139 Orphanet:294955 obsolete syndrome with limb reduction defects -MONDO:0013226 combined immunodeficiency with faciooculoskeletal anomalies MONDO:0035863 Orphanet:221139 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0013227 congenital plasminogen activator inhibitor type 1 deficiency MONDO:0019039 Orphanet:465 Orphanet:68334 obsolete rare hemorrhagic disorder due to a constitutional coagulation factors defect -MONDO:0013227 congenital plasminogen activator inhibitor type 1 deficiency MONDO:0027750 Orphanet:465 Orphanet:250808 obsolete serpinopathy with toxic serpin polymerization -MONDO:0013238 chromosome 17q23.1-q23.2 deletion syndrome MONDO:8000032 Orphanet:261279 Orphanet:377789 obsolete malformation syndrome -MONDO:0013239 hereditary spastic paraplegia 41 MONDO:0015088 Orphanet:320355 Orphanet:100980 obsolete autosomal dominant pure spastic paraplegia -MONDO:0013245 syndromic multisystem autoimmune disease due to ITCH deficiency MONDO:0015118 Orphanet:228426 Orphanet:101944 obsolete rare pulmonary disease -MONDO:0013245 syndromic multisystem autoimmune disease due to ITCH deficiency MONDO:0015510 Orphanet:228426 Orphanet:156610 obsolete rare genetic respiratory disease -MONDO:0013245 syndromic multisystem autoimmune disease due to ITCH deficiency MONDO:0015709 Orphanet:228426 Orphanet:169355 obsolete immunodeficiency syndrome with autoimmunity -MONDO:0013245 syndromic multisystem autoimmune disease due to ITCH deficiency MONDO:0015939 Orphanet:228426 Orphanet:182228 obsolete systemic autoimmune disease -MONDO:0013245 syndromic multisystem autoimmune disease due to ITCH deficiency MONDO:0035863 Orphanet:228426 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0013252 Warsaw breakage syndrome MONDO:0015945 Orphanet:280558 Orphanet:183422 obsolete polymalformative genetic syndrome with increased risk of developing cancer -MONDO:0013252 Warsaw breakage syndrome MONDO:0043008 Orphanet:280558 Orphanet:330206 obsolete genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability -MONDO:0013252 Warsaw breakage syndrome MONDO:8000032 Orphanet:280558 Orphanet:377789 obsolete malformation syndrome -MONDO:0013256 chromosome 15q24 deletion syndrome MONDO:8000031 Orphanet:94065 Orphanet:557494 obsolete subtype of a disorder -MONDO:0013267 distal 16p11.2 microdeletion syndrome MONDO:0016565 Orphanet:261222 Orphanet:240371 obsolete syndromic genetic obesity -MONDO:0013267 distal 16p11.2 microdeletion syndrome MONDO:8000032 Orphanet:261222 Orphanet:377789 obsolete malformation syndrome -MONDO:0013268 frontonasal dysplasia with alopecia and genital anomaly MONDO:0020253 Orphanet:228390 Orphanet:98683 obsolete syndrome with a symptomatic strabismus -MONDO:0013268 frontonasal dysplasia with alopecia and genital anomaly MONDO:0021034 Orphanet:228390 Orphanet:481771 obsolete hereditary alopecia -MONDO:0013268 frontonasal dysplasia with alopecia and genital anomaly MONDO:0035863 Orphanet:228390 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0013268 frontonasal dysplasia with alopecia and genital anomaly MONDO:8000032 Orphanet:228390 Orphanet:377789 obsolete malformation syndrome -MONDO:0013271 frontonasal dysplasia - severe microphthalmia - severe facial clefting syndrome MONDO:0015334 Orphanet:306542 Orphanet:139036 obsolete branchial arch or oral-acral syndrome -MONDO:0013271 frontonasal dysplasia - severe microphthalmia - severe facial clefting syndrome MONDO:0015335 Orphanet:306542 Orphanet:139039 obsolete Mendelian syndromes with cleft lip/palate -MONDO:0013271 frontonasal dysplasia - severe microphthalmia - severe facial clefting syndrome MONDO:0026189 Orphanet:306542 Orphanet:183576 obsolete genetic branchial arch or oral-acral syndrome -MONDO:0013271 frontonasal dysplasia - severe microphthalmia - severe facial clefting syndrome MONDO:8000032 Orphanet:306542 Orphanet:377789 obsolete malformation syndrome -MONDO:0013272 chromosome 14q11-q22 deletion syndrome MONDO:8000032 Orphanet:261120 Orphanet:377789 obsolete malformation syndrome -MONDO:0013273 chromosome 16p13.3 duplication syndrome MONDO:8000032 Orphanet:96078 Orphanet:377789 obsolete malformation syndrome -MONDO:0013275 hemolytic anemia due to glucophosphate isomerase deficiency MONDO:0020106 Orphanet:712 Orphanet:98372 obsolete hemolytic anemia due to a disorder of glycolytic enzymes -MONDO:0013276 Reynolds syndrome MONDO:0015116 Orphanet:779 Orphanet:101941 obsolete rare biliary tract disease -MONDO:0013276 Reynolds syndrome MONDO:0015939 Orphanet:779 Orphanet:182228 obsolete systemic autoimmune disease -MONDO:0013276 Reynolds syndrome MONDO:0017368 Orphanet:779 Orphanet:290836 obsolete systemic disease with skin involvement -MONDO:0013281 COG4-congenital disorder of glycosylation MONDO:0018287 Orphanet:263501 Orphanet:371071 obsolete congenital disorder of glycosylation with epilepsy as a major feature -MONDO:0013281 COG4-congenital disorder of glycosylation MONDO:0018288 Orphanet:263501 Orphanet:371157 obsolete congenital disorder of glycosylation with hepatic involvement -MONDO:0013281 COG4-congenital disorder of glycosylation MONDO:0035862 Orphanet:263501 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome -MONDO:0013282 alpha 1-antitrypsin deficiency MONDO:0015115 Orphanet:60 Orphanet:101940 obsolete rare genetic metabolic liver disease -MONDO:0013282 alpha 1-antitrypsin deficiency MONDO:0015118 Orphanet:60 Orphanet:101944 obsolete rare pulmonary disease -MONDO:0013282 alpha 1-antitrypsin deficiency MONDO:0015510 Orphanet:60 Orphanet:156610 obsolete rare genetic respiratory disease -MONDO:0013282 alpha 1-antitrypsin deficiency MONDO:0019602 Orphanet:60 Orphanet:91088 obsolete other inborn metabolic disease -MONDO:0013282 alpha 1-antitrypsin deficiency MONDO:0019743 Orphanet:60 Orphanet:93593 obsolete nephropathy secondary to a storage or other metabolic disease -MONDO:0013282 alpha 1-antitrypsin deficiency MONDO:0027750 Orphanet:60 Orphanet:250808 obsolete serpinopathy with toxic serpin polymerization -MONDO:0013291 glycogen storage disease XV MONDO:0016118 Orphanet:263297 Orphanet:206959 obsolete muscular glycogenosis -MONDO:0013292 chromosome 4q21 deletion syndrome MONDO:8000032 Orphanet:238750 Orphanet:377789 obsolete malformation syndrome -MONDO:0013298 chromosome 17q21.31 duplication syndrome MONDO:0035863 Orphanet:217340 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0013298 chromosome 17q21.31 duplication syndrome MONDO:8000032 Orphanet:217340 Orphanet:377789 obsolete malformation syndrome -MONDO:0013300 commissural facial cleft MONDO:0015418 Orphanet:141276 Orphanet:141269 obsolete lateral facial cleft -MONDO:0013300 commissural facial cleft MONDO:8000030 Orphanet:141276 Orphanet:377791 obsolete morphological anomaly -MONDO:0013301 aromatase deficiency MONDO:0015582 Orphanet:91 Orphanet:163637 obsolete rare disorder related with pregnancy, childbirth and puerperium -MONDO:0013301 aromatase deficiency MONDO:0017962 Orphanet:91 Orphanet:325061 obsolete 46,XX disorder of sex development induced by fetoplacental androgens excess -MONDO:0013301 aromatase deficiency MONDO:0018386 Orphanet:91 Orphanet:399572 obsolete rare male infertility due to hypothalamic-pituitary-gonadal axis disorder -MONDO:0013301 aromatase deficiency MONDO:0018397 Orphanet:91 Orphanet:399831 obsolete female infertility due to hypothalamic-pituitary-gonadal axis disorder -MONDO:0013301 aromatase deficiency MONDO:0018405 Orphanet:91 Orphanet:399983 obsolete rare male infertility due to hypothalamic-pituitary-gonadal axis disorder of genetic origin -MONDO:0013301 aromatase deficiency MONDO:0018411 Orphanet:91 Orphanet:400011 obsolete rare female infertility due to hypothalamic-pituitary-gonadal axis disorder of genetic origin -MONDO:0013301 aromatase deficiency MONDO:0034443 Orphanet:91 Orphanet:485382 obsolete genetic non-acquired premature ovarian failure -MONDO:0013304 von Willebrand disease 2 MONDO:8000031 Orphanet:166081 Orphanet:557494 obsolete subtype of a disorder -MONDO:0013306 combined oxidative phosphorylation defect type 7 MONDO:0044655 Orphanet:254930 Orphanet:497623 obsolete c12orf65-related combined oxidative phosphorylation defect -MONDO:0013308 CBL-related disorder MONDO:0015945 Orphanet:363972 Orphanet:183422 obsolete polymalformative genetic syndrome with increased risk of developing cancer -MONDO:0013308 CBL-related disorder MONDO:0018792 Orphanet:363972 Orphanet:477771 obsolete Moyamoya syndrome -MONDO:0013308 CBL-related disorder MONDO:0026989 Orphanet:363972 Orphanet:217595 obsolete syndrome associated with hypertrophic cardiomyopathy -MONDO:0013308 CBL-related disorder MONDO:8000032 Orphanet:363972 Orphanet:377789 obsolete malformation syndrome -MONDO:0013310 congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency MONDO:0019593 Orphanet:95699 Orphanet:90776 obsolete 46,XX disorder of sex development induced by fetal androgens excess -MONDO:0013310 congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency MONDO:0019595 Orphanet:95699 Orphanet:90786 obsolete 46,XY disorder of sex development due to adrenal and testicular steroidogenesis defect -MONDO:0013311 ectodermal dysplasia-syndactyly syndrome MONDO:8000032 Orphanet:247820 Orphanet:377789 obsolete malformation syndrome -MONDO:0013313 ectodermal dysplasia-cutaneous syndactyly syndrome MONDO:8000032 Orphanet:247827 Orphanet:377789 obsolete malformation syndrome -MONDO:0013317 torsade-de-pointes syndrome with short coupling interval MONDO:0015110 Orphanet:51084 Orphanet:101934 obsolete genetic cardiac rhythm disease -MONDO:0013320 chromosome 16p12.2-p11.2 deletion syndrome MONDO:8000032 Orphanet:261211 Orphanet:377789 obsolete malformation syndrome -MONDO:0013324 lymphedema-posterior choanal atresia syndrome MONDO:0015503 Orphanet:99141 Orphanet:156246 obsolete nose and cavum anomaly -MONDO:0013324 lymphedema-posterior choanal atresia syndrome MONDO:0033334 Orphanet:99141 Orphanet:435606 obsolete genetic nose and cavum anomaly -MONDO:0013324 lymphedema-posterior choanal atresia syndrome MONDO:8000032 Orphanet:99141 Orphanet:377789 obsolete malformation syndrome -MONDO:0013325 COG5-congenital disorder of glycosylation MONDO:0018284 Orphanet:263487 Orphanet:371047 obsolete congenital disorder of glycosylation with neurological involvement -MONDO:0013325 COG5-congenital disorder of glycosylation MONDO:0035862 Orphanet:263487 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome -MONDO:0013327 primary hyperoxaluria type 3 MONDO:8000031 Orphanet:93600 Orphanet:557494 obsolete subtype of a disorder -MONDO:0013329 familial clubfoot due to 17q23.1q23.2 microduplication MONDO:8000031 Orphanet:238578 Orphanet:557494 obsolete subtype of a disorder -MONDO:0013334 cocoon syndrome MONDO:0015226 Orphanet:465824 Orphanet:109009 obsolete syndrome with limb malformations as a major feature -MONDO:0013334 cocoon syndrome MONDO:8000032 Orphanet:465824 Orphanet:377789 obsolete malformation syndrome -MONDO:0013336 chromosome 19p13.13 deletion syndrome MONDO:0035863 Orphanet:357001 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0013336 chromosome 19p13.13 deletion syndrome MONDO:8000032 Orphanet:357001 Orphanet:377789 obsolete malformation syndrome -MONDO:0013341 methylmalonic acidemia due to transcobalamin receptor defect MONDO:0032011 Orphanet:280183 Orphanet:377790 obsolete biological anomaly -MONDO:0013342 hereditary spastic paraplegia 48 MONDO:0017914 Orphanet:306511 Orphanet:320342 obsolete pure or complex autosomal dominant spastic paraplegia -MONDO:0013342 hereditary spastic paraplegia 48 MONDO:0017915 Orphanet:306511 Orphanet:320346 obsolete pure or complex autosomal recessive spastic paraplegia -MONDO:0013342 hereditary spastic paraplegia 48 MONDO:0019058 Orphanet:306511 Orphanet:68385 obsolete neurometabolic disease -MONDO:0013349 ALG11-congenital disorder of glycosylation MONDO:0018287 Orphanet:280071 Orphanet:371071 obsolete congenital disorder of glycosylation with epilepsy as a major feature -MONDO:0013349 ALG11-congenital disorder of glycosylation MONDO:0035862 Orphanet:280071 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome -MONDO:0013351 infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly MONDO:0017119 Orphanet:402364 Orphanet:269528 obsolete syndrome with microcephaly as major feature -MONDO:0013351 infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly MONDO:8000032 Orphanet:402364 Orphanet:377789 obsolete malformation syndrome -MONDO:0013352 intellectual disability-severe speech delay-mild dysmorphism syndrome MONDO:0035863 Orphanet:391372 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0013352 intellectual disability-severe speech delay-mild dysmorphism syndrome MONDO:8000032 Orphanet:391372 Orphanet:377789 obsolete malformation syndrome -MONDO:0013353 intellectual disability, anterior maxillary protrusion, and strabismus MONDO:0015336 Orphanet:562559 Orphanet:139042 obsolete malformation syndrome with odontal and/or periodontal component -MONDO:0013353 intellectual disability, anterior maxillary protrusion, and strabismus MONDO:0019183 Orphanet:562559 Orphanet:77830 obsolete inherited odontologic disease -MONDO:0013353 intellectual disability, anterior maxillary protrusion, and strabismus MONDO:0020253 Orphanet:562559 Orphanet:98683 obsolete syndrome with a symptomatic strabismus -MONDO:0013353 intellectual disability, anterior maxillary protrusion, and strabismus MONDO:0035863 Orphanet:562559 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0013353 intellectual disability, anterior maxillary protrusion, and strabismus MONDO:8000032 Orphanet:562559 Orphanet:377789 obsolete malformation syndrome -MONDO:0013354 spastic ataxia 4 MONDO:0018157 Orphanet:254343 Orphanet:35696 obsolete mitochondrial disorder due to a defect in mitochondrial protein synthesis -MONDO:0013357 chromosome 17q11.2 deletion syndrome, 1.4Mb MONDO:0035863 Orphanet:137634 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0013357 chromosome 17q11.2 deletion syndrome, 1.4Mb MONDO:8000031 Orphanet:97685 Orphanet:557494 obsolete subtype of a disorder -MONDO:0013357 chromosome 17q11.2 deletion syndrome, 1.4Mb MONDO:8000032 Orphanet:137634 Orphanet:377789 obsolete malformation syndrome -MONDO:0013360 brachyolmia, Maroteaux type MONDO:8000032 Orphanet:93302 Orphanet:377789 obsolete malformation syndrome -MONDO:0013362 THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome MONDO:0035863 Orphanet:363444 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0013362 THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome MONDO:8000032 Orphanet:363444 Orphanet:377789 obsolete malformation syndrome -MONDO:0013363 chromosome 2q31.1 duplication syndrome MONDO:8000032 Orphanet:294026 Orphanet:377789 obsolete malformation syndrome -MONDO:0013364 Rubinstein-Taybi syndrome due to EP300 haploinsufficiency MONDO:8000031 Orphanet:353284 Orphanet:557494 obsolete subtype of a disorder -MONDO:0013368 mammary-digital-nail syndrome MONDO:0015852 Orphanet:238744 Orphanet:180170 obsolete excess breast volume or number -MONDO:0013368 mammary-digital-nail syndrome MONDO:0015980 Orphanet:238744 Orphanet:183731 obsolete rare genetic gynecological and obstetrical diseases -MONDO:0013368 mammary-digital-nail syndrome MONDO:0017432 Orphanet:238744 Orphanet:294955 obsolete syndrome with limb reduction defects -MONDO:0013368 mammary-digital-nail syndrome MONDO:8000032 Orphanet:238744 Orphanet:377789 obsolete malformation syndrome -MONDO:0013382 progressive demyelinating neuropathy with bilateral striatal necrosis MONDO:0019058 Orphanet:217396 Orphanet:68385 obsolete neurometabolic disease -MONDO:0013387 developmental and epileptic encephalopathy, 7 MONDO:0035862 Orphanet:439218 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome -MONDO:0013392 autosomal recessive spinocerebellar ataxia 10 MONDO:0035862 Orphanet:284289 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome -MONDO:0013393 distal 7q11.23 microdeletion syndrome MONDO:8000032 Orphanet:254351 Orphanet:377789 obsolete malformation syndrome -MONDO:0013394 porencephaly-microcephaly-bilateral congenital cataract syndrome MONDO:0017120 Orphanet:306547 Orphanet:269531 obsolete other syndrome with a central nervous system malformation as major feature -MONDO:0013394 porencephaly-microcephaly-bilateral congenital cataract syndrome MONDO:8000032 Orphanet:306547 Orphanet:377789 obsolete malformation syndrome -MONDO:0013396 chromosome 1p32-p31 deletion syndrome MONDO:0035863 Orphanet:401986 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0013396 chromosome 1p32-p31 deletion syndrome MONDO:8000032 Orphanet:401986 Orphanet:377789 obsolete malformation syndrome -MONDO:0013400 Congenital adrenal insuffiency with 46, XY sex reversal OR 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency MONDO:0019595 Orphanet:168558 Orphanet:90786 obsolete 46,XY disorder of sex development due to adrenal and testicular steroidogenesis defect -MONDO:0013400 Congenital adrenal insuffiency with 46, XY sex reversal OR 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency MONDO:0020999 Orphanet:168558 Orphanet:101960 obsolete genetic chronic primary adrenal insufficiency -MONDO:0013404 hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase MONDO:0035863 Orphanet:88618 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0013408 FADD-related immunodeficiency MONDO:0015709 Orphanet:306550 Orphanet:169355 obsolete immunodeficiency syndrome with autoimmunity -MONDO:0013424 3p- syndrome MONDO:8000032 Orphanet:1620 Orphanet:377789 obsolete malformation syndrome -MONDO:0013426 aneurysm-osteoarthritis syndrome MONDO:0017311 Orphanet:284984 Orphanet:285014 obsolete rare disease with thoracic aortic aneurysm and aortic dissection -MONDO:0013440 autosomal recessive limb-girdle muscular dystrophy type 2P MONDO:0018283 Orphanet:280333 Orphanet:371040 obsolete primary qualitative or quantitative defects of alpha-dystroglycan -MONDO:0013440 autosomal recessive limb-girdle muscular dystrophy type 2P MONDO:0018284 Orphanet:280333 Orphanet:371047 obsolete congenital disorder of glycosylation with neurological involvement -MONDO:0013440 autosomal recessive limb-girdle muscular dystrophy type 2P MONDO:0035862 Orphanet:280333 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome -MONDO:0013452 multisystemic smooth muscle dysfunction syndrome MONDO:0015106 Orphanet:404463 Orphanet:101433 obsolete rare urogenital disease -MONDO:0013452 multisystemic smooth muscle dysfunction syndrome MONDO:0015184 Orphanet:404463 Orphanet:104009 obsolete rare disease involving intestinal motility -MONDO:0013452 multisystemic smooth muscle dysfunction syndrome MONDO:0015511 Orphanet:404463 Orphanet:156619 obsolete rare genetic urogenital disease -MONDO:0013452 multisystemic smooth muscle dysfunction syndrome MONDO:0015953 Orphanet:404463 Orphanet:183503 obsolete genetic central nervous system and retinal vascular disease -MONDO:0013452 multisystemic smooth muscle dysfunction syndrome MONDO:0017311 Orphanet:404463 Orphanet:285014 obsolete rare disease with thoracic aortic aneurysm and aortic dissection -MONDO:0013452 multisystemic smooth muscle dysfunction syndrome MONDO:0019110 Orphanet:404463 Orphanet:71281 obsolete rare central nervous system or retinal vascular disease -MONDO:0013456 constitutional megaloblastic anemia with severe neurologic disease MONDO:0016406 Orphanet:319651 Orphanet:225713 obsolete other metabolic disease with epilepsy -MONDO:0013456 constitutional megaloblastic anemia with severe neurologic disease MONDO:0020111 Orphanet:319651 Orphanet:98408 obsolete constitutional megaloblastic anemia due to folate metabolism disorder -MONDO:0013458 hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome MONDO:0017159 Orphanet:363694 Orphanet:275853 obsolete syndrome with pulmonary hypertension as a major feature -MONDO:0013458 hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome MONDO:0018157 Orphanet:363694 Orphanet:35696 obsolete mitochondrial disorder due to a defect in mitochondrial protein synthesis -MONDO:0013458 hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome MONDO:0019744 Orphanet:363694 Orphanet:93603 obsolete rare renal tubular disease -MONDO:0013472 fatal infantile hypertonic myofibrillar myopathy MONDO:0018779 Orphanet:280553 Orphanet:476403 obsolete hypercontractile muscle stiffness syndrome -MONDO:0013472 fatal infantile hypertonic myofibrillar myopathy MONDO:0020343 Orphanet:280553 Orphanet:98910 obsolete alpha-crystallinopathy -MONDO:0013478 PLIN1-related familial partial lipodystrophy MONDO:0015885 Orphanet:280356 Orphanet:181368 obsolete rare insulin-resistance syndrome -MONDO:0013481 chromosome 13q14 deletion syndrome MONDO:0020165 Orphanet:1587 Orphanet:98574 obsolete syndromic epicanthus -MONDO:0013481 chromosome 13q14 deletion syndrome MONDO:0020226 Orphanet:1587 Orphanet:98642 obsolete chromosomal anomaly with cataract -MONDO:0013481 chromosome 13q14 deletion syndrome MONDO:8000032 Orphanet:1587 Orphanet:377789 obsolete malformation syndrome -MONDO:0013486 spinocerebellar ataxia type 32 MONDO:0035862 Orphanet:276183 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome -MONDO:0013487 recurrent Neisseria infections due to factor D deficiency MONDO:0018727 Orphanet:169467 Orphanet:459348 obsolete immunodeficiency due to a complement regulatory deficiency -MONDO:0013512 hemoglobin H disease MONDO:0019844 Orphanet:93616 Orphanet:95618 obsolete pituitary hormone deficiency secondary to storage disease -MONDO:0013512 hemoglobin H disease MONDO:8000031 Orphanet:93616 Orphanet:557494 obsolete subtype of a disorder -MONDO:0013523 Nestor-Guillermo progeria syndrome MONDO:0031689 Orphanet:280576 Orphanet:363245 obsolete genetic progeroid syndrome -MONDO:0013523 Nestor-Guillermo progeria syndrome MONDO:8000032 Orphanet:280576 Orphanet:377789 obsolete malformation syndrome -MONDO:0013531 PSPH deficiency MONDO:8000031 Orphanet:79350 Orphanet:557494 obsolete subtype of a disorder -MONDO:0013539 hypotonia-failure to thrive-microcephaly syndrome MONDO:0019602 Orphanet:79507 Orphanet:91088 obsolete other inborn metabolic disease -MONDO:0013540 deafness-lymphedema-leukemia syndrome MONDO:0019044 Orphanet:3226 Orphanet:68347 obsolete tumor of hematopoietic and lymphoid tissues -MONDO:0013540 deafness-lymphedema-leukemia syndrome MONDO:0019589 Orphanet:3226 Orphanet:90642 obsolete syndromic genetic hearing loss -MONDO:0013540 deafness-lymphedema-leukemia syndrome MONDO:8000032 Orphanet:3226 Orphanet:377789 obsolete malformation syndrome -MONDO:0013541 complex cortical dysplasia with other brain malformations 1 MONDO:0015572 Orphanet:300570 Orphanet:163209 obsolete cerebral malformation due to abnormal neuronal migration -MONDO:0013541 complex cortical dysplasia with other brain malformations 1 MONDO:0035863 Orphanet:300570 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0013546 mitochondrial complex V (ATP synthase) deficiency nuclear type 2 MONDO:0017718 Orphanet:1194 Orphanet:309136 obsolete mitochondrial disorder due to a defect in assembly or maturation of the respiratory chain complexes -MONDO:0013546 mitochondrial complex V (ATP synthase) deficiency nuclear type 2 MONDO:0035862 Orphanet:1194 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome -MONDO:0013559 Hermansky-Pudlak syndrome 7 MONDO:8000031 Orphanet:231531 Orphanet:557494 obsolete subtype of a disorder -MONDO:0013561 chondrodysplasia with joint dislocations, gPAPP type MONDO:0800086 Orphanet:280586 Orphanet:93441 obsolete primary bone dysplasia with multiple joint dislocations -MONDO:0013561 chondrodysplasia with joint dislocations, gPAPP type MONDO:8000032 Orphanet:280586 Orphanet:377789 obsolete malformation syndrome -MONDO:0013563 multiple congenital anomalies-hypotonia-seizures syndrome 1 MONDO:0018287 Orphanet:280633 Orphanet:371071 obsolete congenital disorder of glycosylation with epilepsy as a major feature -MONDO:0013563 multiple congenital anomalies-hypotonia-seizures syndrome 1 MONDO:0018296 Orphanet:280633 Orphanet:371235 obsolete congenital disorder of glycosylation with developmental anomaly -MONDO:0013563 multiple congenital anomalies-hypotonia-seizures syndrome 1 MONDO:0035863 Orphanet:280633 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0013563 multiple congenital anomalies-hypotonia-seizures syndrome 1 MONDO:8000032 Orphanet:280633 Orphanet:377789 obsolete malformation syndrome -MONDO:0013569 short-rib thoracic dysplasia 7 with or without polydactyly MONDO:8000032 Orphanet:498497 Orphanet:377789 obsolete malformation syndrome -MONDO:0013570 combined oxidative phosphorylation defect type 8 MONDO:0018157 Orphanet:319504 Orphanet:35696 obsolete mitochondrial disorder due to a defect in mitochondrial protein synthesis -MONDO:0013571 acatalasia MONDO:0017753 Orphanet:926 Orphanet:309810 obsolete disorder of peroxisomal alpha-, beta- and omega-oxidation -MONDO:0013572 Keppen-Lubinsky syndrome MONDO:0035863 Orphanet:435628 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0013572 Keppen-Lubinsky syndrome MONDO:8000032 Orphanet:435628 Orphanet:377789 obsolete malformation syndrome -MONDO:0013574 cutis laxa - Marfanoid syndrome MONDO:0015332 Orphanet:171719 Orphanet:139030 obsolete rare developmental defect with connective tissue involvement -MONDO:0013574 cutis laxa - Marfanoid syndrome MONDO:8000032 Orphanet:171719 Orphanet:377789 obsolete malformation syndrome -MONDO:0013576 recurrent infections associated with rare immunoglobulin isotypes deficiency MONDO:0018038 Orphanet:183675 Orphanet:331232 obsolete immunodeficiency with isotype or light chain deficiencies with normal number of B-cells -MONDO:0013578 DYRK1A-related intellectual disability syndrome MONDO:0035863 Orphanet:464306 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0013578 DYRK1A-related intellectual disability syndrome MONDO:8000032 Orphanet:464306 Orphanet:377789 obsolete malformation syndrome -MONDO:0013580 pyruvate dehydrogenase E1-beta deficiency MONDO:8000031 Orphanet:255138 Orphanet:557494 obsolete subtype of a disorder -MONDO:0013583 occipital pachygyria and polymicrogyria MONDO:0015572 Orphanet:280640 Orphanet:163209 obsolete cerebral malformation due to abnormal neuronal migration -MONDO:0013583 occipital pachygyria and polymicrogyria MONDO:8000032 Orphanet:280640 Orphanet:377789 obsolete malformation syndrome -MONDO:0013584 hereditary sensory neuropathy-deafness-dementia syndrome MONDO:0015365 Orphanet:456318 Orphanet:140474 obsolete autosomal dominant hereditary sensory and autonomic neuropathy -MONDO:0013584 hereditary sensory neuropathy-deafness-dementia syndrome MONDO:0019589 Orphanet:456318 Orphanet:90642 obsolete syndromic genetic hearing loss -MONDO:0013584 hereditary sensory neuropathy-deafness-dementia syndrome MONDO:0020136 Orphanet:456318 Orphanet:98534 obsolete neurodegenerative disease with dementia -MONDO:0013584 hereditary sensory neuropathy-deafness-dementia syndrome MONDO:0021037 Orphanet:456318 Orphanet:276058 obsolete genetic neurodegenerative disease with dementia -MONDO:0013587 glycogen storage disease due to lactate dehydrogenase H-subunit deficiency MONDO:8000031 Orphanet:284435 Orphanet:557494 obsolete subtype of a disorder -MONDO:0013595 hyperbiliverdinemia MONDO:0015507 Orphanet:276405 Orphanet:156601 obsolete rare genetic hepatic disease -MONDO:0013595 hyperbiliverdinemia MONDO:0018928 Orphanet:276405 Orphanet:57146 obsolete rare hepatic disease -MONDO:0013599 autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome MONDO:0015709 Orphanet:391487 Orphanet:169355 obsolete immunodeficiency syndrome with autoimmunity -MONDO:0013599 autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome MONDO:0026209 Orphanet:391487 Orphanet:183643 obsolete genetic polyendocrinopathy -MONDO:0013607 monocytopenia with susceptibility to infections MONDO:0015133 Orphanet:228423 Orphanet:101985 obsolete quantitative and/or qualitative congenital phagocyte defect -MONDO:0013614 hypertelorism-preauricular sinus-punctual pits-deafness syndrome MONDO:0019589 Orphanet:293958 Orphanet:90642 obsolete syndromic genetic hearing loss -MONDO:0013614 hypertelorism-preauricular sinus-punctual pits-deafness syndrome MONDO:8000032 Orphanet:293958 Orphanet:377789 obsolete malformation syndrome -MONDO:0013615 craniosynostosis and dental anomalies MONDO:0015336 Orphanet:284149 Orphanet:139042 obsolete malformation syndrome with odontal and/or periodontal component -MONDO:0013615 craniosynostosis and dental anomalies MONDO:0026190 Orphanet:284149 Orphanet:183580 obsolete genetic malformation syndrome with odontal and/or periodontal component -MONDO:0013615 craniosynostosis and dental anomalies MONDO:8000032 Orphanet:284149 Orphanet:377789 obsolete malformation syndrome -MONDO:0013622 platelet-type bleeding disorder 9 MONDO:0019138 Orphanet:98886 Orphanet:73271 obsolete bleeding diathesis due to a collagen receptor defect -MONDO:0013622 platelet-type bleeding disorder 9 MONDO:8000031 Orphanet:98886 Orphanet:557494 obsolete subtype of a disorder -MONDO:0013623 platelet-type bleeding disorder 11 MONDO:0019138 Orphanet:98885 Orphanet:73271 obsolete bleeding diathesis due to a collagen receptor defect -MONDO:0013623 platelet-type bleeding disorder 11 MONDO:8000031 Orphanet:98885 Orphanet:557494 obsolete subtype of a disorder -MONDO:0013626 psoriasis 14, pustular MONDO:0017369 Orphanet:404546 Orphanet:290839 obsolete autoinflammatory syndrome with immune deficiency -MONDO:0013626 psoriasis 14, pustular MONDO:0017370 Orphanet:404546 Orphanet:290842 obsolete autoinflammatory syndrome with skin involvement -MONDO:0013626 psoriasis 14, pustular MONDO:0017954 Orphanet:404546 Orphanet:324927 obsolete pyogenic autoinflammatory syndrome -MONDO:0013626 psoriasis 14, pustular MONDO:0019274 Orphanet:163931 Orphanet:79359 obsolete other epidermal disorder -MONDO:0013626 psoriasis 14, pustular MONDO:0019274 Orphanet:247353 Orphanet:79359 obsolete other epidermal disorder -MONDO:0013626 psoriasis 14, pustular MONDO:0019275 Orphanet:163931 Orphanet:79360 obsolete other genetic epidermal disease -MONDO:0013626 psoriasis 14, pustular MONDO:0019275 Orphanet:247353 Orphanet:79360 obsolete other genetic epidermal disease -MONDO:0013640 familial retinal arterial macroaneurysm MONDO:0015506 Orphanet:284247 Orphanet:156532 obsolete rare syndrome with cardiac malformations -MONDO:0013640 familial retinal arterial macroaneurysm MONDO:0015953 Orphanet:284247 Orphanet:183503 obsolete genetic central nervous system and retinal vascular disease -MONDO:0013640 familial retinal arterial macroaneurysm MONDO:0019110 Orphanet:284247 Orphanet:71281 obsolete rare central nervous system or retinal vascular disease -MONDO:0013640 familial retinal arterial macroaneurysm MONDO:8000032 Orphanet:284247 Orphanet:377789 obsolete malformation syndrome -MONDO:0013645 autosomal recessive spinocerebellar ataxia 11 MONDO:0035862 Orphanet:284271 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome -MONDO:0013646 chromosome 8q21.11 deletion syndrome MONDO:0035863 Orphanet:284160 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0013646 chromosome 8q21.11 deletion syndrome MONDO:8000032 Orphanet:284160 Orphanet:377789 obsolete malformation syndrome -MONDO:0013659 microcephaly-capillary malformation syndrome MONDO:0017119 Orphanet:294016 Orphanet:269528 obsolete syndrome with microcephaly as major feature -MONDO:0013659 microcephaly-capillary malformation syndrome MONDO:0018719 Orphanet:294016 Orphanet:458830 obsolete obsolete rare capillary malformation with associated anomalies -MONDO:0013659 microcephaly-capillary malformation syndrome MONDO:8000032 Orphanet:294016 Orphanet:377789 obsolete malformation syndrome -MONDO:0013661 combined malonic and methylmalonic acidemia MONDO:0035862 Orphanet:289504 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome -MONDO:0013664 46,XY disorder of sex development due to testicular 17,20-desmolase deficiency MONDO:0018618 Orphanet:443087 Orphanet:443090 obsolete 46,XY disorder of sexual development due to dihydrotestosterone backdoor pathway biosynthesis defect -MONDO:0013668 tetrasomy 18p MONDO:8000032 Orphanet:3307 Orphanet:377789 obsolete malformation syndrome -MONDO:0013673 Wolfram-like syndrome MONDO:0015886 Orphanet:411590 Orphanet:181371 obsolete rare diabetes mellitus type 1 -MONDO:0013673 Wolfram-like syndrome MONDO:0018609 Orphanet:411590 Orphanet:441434 obsolete syndromic hereditary optic neuropathy -MONDO:0013673 Wolfram-like syndrome MONDO:0019589 Orphanet:411590 Orphanet:90642 obsolete syndromic genetic hearing loss -MONDO:0013674 neurodegeneration with brain iron accumulation 4 MONDO:0018609 Orphanet:289560 Orphanet:441434 obsolete syndromic hereditary optic neuropathy -MONDO:0013678 EDICT syndrome MONDO:0020211 Orphanet:293936 Orphanet:98623 obsolete syndromic keratoconus -MONDO:0013691 Feingold syndrome type 2 MONDO:8000031 Orphanet:391646 Orphanet:557494 obsolete subtype of a disorder -MONDO:0013700 pancreatic triacylglycerol lipase deficiency MONDO:0017709 Orphanet:309031 Orphanet:309028 obsolete disorder of lipid absorption and transport -MONDO:0013711 peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome MONDO:0019589 Orphanet:397744 Orphanet:90642 obsolete syndromic genetic hearing loss -MONDO:0013722 hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism MONDO:0017118 Orphanet:85186 Orphanet:269523 obsolete syndrome with a cerebellar malformation as major feature -MONDO:0013722 hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism MONDO:0800084 Orphanet:85186 Orphanet:93444 obsolete primary bone dysplasia with increased bone density -MONDO:0013722 hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism MONDO:8000032 Orphanet:85186 Orphanet:377789 obsolete malformation syndrome -MONDO:0013726 encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1 MONDO:8000031 Orphanet:330050 Orphanet:557494 obsolete subtype of a disorder -MONDO:0013730 graft versus host disease MONDO:0020008 Orphanet:39812 Orphanet:98004 obsolete rare immune disease -MONDO:0013730 graft versus host disease MONDO:0035426 Orphanet:39812 Orphanet:565779 obsolete rare disorder potentially indicated for transplant or complication after transplantation -MONDO:0013735 microcephaly-cerebellar hypoplasia-cardiac conduction defect syndrome MONDO:0017119 Orphanet:329332 Orphanet:269528 obsolete syndrome with microcephaly as major feature -MONDO:0013735 microcephaly-cerebellar hypoplasia-cardiac conduction defect syndrome MONDO:0035863 Orphanet:329332 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0013735 microcephaly-cerebellar hypoplasia-cardiac conduction defect syndrome MONDO:8000032 Orphanet:329332 Orphanet:377789 obsolete malformation syndrome -MONDO:0013737 hereditary spastic paraplegia 46 MONDO:0015089 Orphanet:320391 Orphanet:100981 obsolete autosomal recessive complex spastic paraplegia -MONDO:0013737 hereditary spastic paraplegia 46 MONDO:0035862 Orphanet:320391 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome -MONDO:0013740 lethal occipital encephalocele-skeletal dysplasia syndrome MONDO:8000032 Orphanet:293925 Orphanet:377789 obsolete malformation syndrome MONDO:0013742 obsolete familial mesial temporal lobe epilepsy with febrile seizures MONDO:0000001 Orphanet:165805 Orphanet:377788 disease -MONDO:0013742 obsolete familial mesial temporal lobe epilepsy with febrile seizures MONDO:0017704 Orphanet:165805 Orphanet:309 familial partial epilepsy -MONDO:0013743 autosomal systemic lupus erythematosus type 16 MONDO:0015939 Orphanet:300345 Orphanet:182228 obsolete systemic autoimmune disease -MONDO:0013743 autosomal systemic lupus erythematosus type 16 MONDO:0018782 Orphanet:300345 Orphanet:477647 obsolete type 1 interferonopathy -MONDO:0013753 Charcot-Marie-Tooth disease axonal type 2P MONDO:0019601 Orphanet:300319 Orphanet:91024 obsolete autosomal recessive axonal hereditary motor and sensory neuropathy -MONDO:0013755 PYCR1-related de Barsy syndrome MONDO:8000031 Orphanet:293633 Orphanet:557494 obsolete subtype of a disorder -MONDO:0013760 congenital ichthyosis-intellectual disability-spastic quadriplegia syndrome MONDO:0017272 Orphanet:352333 Orphanet:281238 obsolete autosomal ichthyosis syndrome with prominent neurologics signs -MONDO:0013760 congenital ichthyosis-intellectual disability-spastic quadriplegia syndrome MONDO:0018118 Orphanet:352333 Orphanet:352306 obsolete disorder of phospholipids, sphingolipids and fatty acids biosynthesis with central nervous system predominant involvement -MONDO:0013760 congenital ichthyosis-intellectual disability-spastic quadriplegia syndrome MONDO:0019058 Orphanet:352333 Orphanet:68385 obsolete neurometabolic disease -MONDO:0013760 congenital ichthyosis-intellectual disability-spastic quadriplegia syndrome MONDO:0035862 Orphanet:352333 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome -MONDO:0013762 lipoic acid synthetase deficiency MONDO:0016402 Orphanet:401859 Orphanet:225700 obsolete mitochondrial disease with epilepsy -MONDO:0013762 lipoic acid synthetase deficiency MONDO:0019058 Orphanet:401859 Orphanet:68385 obsolete neurometabolic disease -MONDO:0013766 familial cold autoinflammatory syndrome 3 MONDO:0015939 Orphanet:300359 Orphanet:182228 obsolete systemic autoimmune disease -MONDO:0013766 familial cold autoinflammatory syndrome 3 MONDO:0017369 Orphanet:300359 Orphanet:290839 obsolete autoinflammatory syndrome with immune deficiency -MONDO:0013766 familial cold autoinflammatory syndrome 3 MONDO:0017956 Orphanet:300359 Orphanet:324933 obsolete mixed autoinflammatory and autoimmune syndrome -MONDO:0013766 familial cold autoinflammatory syndrome 3 MONDO:0019305 Orphanet:300359 Orphanet:79391 obsolete immune deficiency with skin involvement -MONDO:0013767 autoimmune lymphoproliferative syndrome type 4 MONDO:0015709 Orphanet:268114 Orphanet:169355 obsolete immunodeficiency syndrome with autoimmunity -MONDO:0013771 transient infantile hypertriglyceridemia and hepatosteatosis MONDO:0015114 Orphanet:300293 Orphanet:101939 obsolete rare parenchymal liver disease -MONDO:0013771 transient infantile hypertriglyceridemia and hepatosteatosis MONDO:0015508 Orphanet:300293 Orphanet:156604 obsolete hereditary parenchymatous liver disease -MONDO:0013772 Huppke-Brendel syndrome MONDO:0019058 Orphanet:300313 Orphanet:68385 obsolete neurometabolic disease -MONDO:0013772 Huppke-Brendel syndrome MONDO:0020225 Orphanet:300313 Orphanet:98641 obsolete syndromic cataract -MONDO:0013775 thrombomodulin-related bleeding disorder MONDO:0019039 Orphanet:436169 Orphanet:68334 obsolete rare hemorrhagic disorder due to a constitutional coagulation factors defect -MONDO:0013777 pseudohypoaldosteronism type 2B MONDO:8000031 Orphanet:88939 Orphanet:557494 obsolete subtype of a disorder -MONDO:0013778 pseudohypoaldosteronism type 2C MONDO:8000031 Orphanet:88940 Orphanet:557494 obsolete subtype of a disorder -MONDO:0013781 pseudohypoaldosteronism type 2D MONDO:8000031 Orphanet:300525 Orphanet:557494 obsolete subtype of a disorder -MONDO:0013782 pseudohypoaldosteronism type 2E MONDO:8000031 Orphanet:300530 Orphanet:557494 obsolete subtype of a disorder -MONDO:0013784 neonatal-onset encephalopathy with rigidity and seizures MONDO:8000032 Orphanet:435845 Orphanet:377789 obsolete malformation syndrome -MONDO:0013789 DDOST-congenital disorder of glycosylation MONDO:0018284 Orphanet:300536 Orphanet:371047 obsolete congenital disorder of glycosylation with neurological involvement -MONDO:0013789 DDOST-congenital disorder of glycosylation MONDO:0018288 Orphanet:300536 Orphanet:371157 obsolete congenital disorder of glycosylation with hepatic involvement -MONDO:0013789 DDOST-congenital disorder of glycosylation MONDO:0035862 Orphanet:300536 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome -MONDO:0013796 chromosome 17q12 duplication syndrome MONDO:8000032 Orphanet:261272 Orphanet:377789 obsolete malformation syndrome -MONDO:0013797 chromosome 17q12 deletion syndrome MONDO:8000032 Orphanet:261265 Orphanet:377789 obsolete malformation syndrome -MONDO:0013800 Ehlers-Danlos syndrome, kyphoscoliotic and deafness type MONDO:0034024 Orphanet:300179 Orphanet:536545 obsolete kyphoscoliotic Ehlers-Danlos syndrome -MONDO:0013800 Ehlers-Danlos syndrome, kyphoscoliotic and deafness type MONDO:8000031 Orphanet:300179 Orphanet:557494 obsolete subtype of a disorder -MONDO:0013802 infantile cerebellar-retinal degeneration MONDO:0015918 Orphanet:313850 Orphanet:182070 obsolete rare neurodegenerative disease -MONDO:0013802 infantile cerebellar-retinal degeneration MONDO:0018609 Orphanet:313850 Orphanet:441434 obsolete syndromic hereditary optic neuropathy -MONDO:0013802 infantile cerebellar-retinal degeneration MONDO:0019058 Orphanet:313850 Orphanet:68385 obsolete neurometabolic disease -MONDO:0013802 infantile cerebellar-retinal degeneration MONDO:0034953 Orphanet:313850 Orphanet:519325 obsolete syndromic inherited retinal disorder -MONDO:0013803 leukoencephalopathy with calcifications and cysts MONDO:0018787 Orphanet:542310 Orphanet:477754 obsolete genetic cerebral small vessel disease -MONDO:0013806 familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome MONDO:0015948 Orphanet:313846 Orphanet:183478 obsolete rare genetic skin vascular disorder -MONDO:0013808 Maffucci syndrome MONDO:0015948 Orphanet:163634 Orphanet:183478 obsolete rare genetic skin vascular disorder -MONDO:0013808 Maffucci syndrome MONDO:0015959 Orphanet:163634 Orphanet:183527 obsolete inherited syndrome with bone tumors as a major feature -MONDO:0013808 Maffucci syndrome MONDO:0016235 Orphanet:163634 Orphanet:211277 obsolete complex vascular malformation with associated anomalies -MONDO:0013808 Maffucci syndrome MONDO:0020063 Orphanet:163634 Orphanet:98196 obsolete malformation syndrome with hamartosis -MONDO:0013808 Maffucci syndrome MONDO:0033927 Orphanet:163634 Orphanet:459537 obsolete genetic complex vascular malformation with associated anomalies -MONDO:0013808 Maffucci syndrome MONDO:0800089 Orphanet:163634 Orphanet:93450 obsolete primary bone dysplasia with disorganized development of skeletal components -MONDO:0013810 COG6-ongenital disorder of glycosylation MONDO:0018284 Orphanet:464443 Orphanet:371047 obsolete congenital disorder of glycosylation with neurological involvement -MONDO:0013811 combined oxidative phosphorylation defect type 9 MONDO:0018157 Orphanet:319509 Orphanet:35696 obsolete mitochondrial disorder due to a defect in mitochondrial protein synthesis -MONDO:0013825 congenital diarrhea 6 MONDO:0015184 Orphanet:314373 Orphanet:104009 obsolete rare disease involving intestinal motility -MONDO:0013836 familial steroid-resistant nephrotic syndrome with sensorineural deafness MONDO:0019589 Orphanet:280406 Orphanet:90642 obsolete syndromic genetic hearing loss -MONDO:0013839 hereditary sensory and autonomic neuropathy type 6 MONDO:0015366 Orphanet:314381 Orphanet:140477 obsolete autosomal recessive hereditary sensory and autonomic neuropathy -MONDO:0013840 encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome MONDO:0016327 Orphanet:319678 Orphanet:217587 obsolete mitochondrial disease with hypertrophic cardiomyopathy -MONDO:0013843 intestinal obstruction in the newborn due to guanylate cyclase 2C deficiency MONDO:0015184 Orphanet:314376 Orphanet:104009 obsolete rare disease involving intestinal motility -MONDO:0013847 chromosome 16p11.2 duplication syndrome MONDO:0035862 Orphanet:370079 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome -MONDO:0013847 chromosome 16p11.2 duplication syndrome MONDO:8000032 Orphanet:370079 Orphanet:377789 obsolete malformation syndrome -MONDO:0013858 pontine tegmental cap dysplasia MONDO:0020133 Orphanet:269229 Orphanet:98519 obsolete posterior fossa malformation -MONDO:0013858 pontine tegmental cap dysplasia MONDO:8000030 Orphanet:269229 Orphanet:377791 obsolete morphological anomaly -MONDO:0013863 combined immunodeficiency due to LRBA deficiency MONDO:0026209 Orphanet:445018 Orphanet:183643 obsolete genetic polyendocrinopathy -MONDO:0013865 mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency MONDO:0016327 Orphanet:314637 Orphanet:217587 obsolete mitochondrial disease with hypertrophic cardiomyopathy -MONDO:0013865 mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency MONDO:0018157 Orphanet:314637 Orphanet:35696 obsolete mitochondrial disorder due to a defect in mitochondrial protein synthesis -MONDO:0013866 neuronal ceroid lipofuscinosis 11 MONDO:8000031 Orphanet:314629 Orphanet:557494 obsolete subtype of a disorder -MONDO:0013867 brown-Vialetto-van Laere syndrome 2 MONDO:8000031 Orphanet:572550 Orphanet:557494 obsolete subtype of a disorder -MONDO:0013869 adenine phosphoribosyltransferase deficiency MONDO:0019743 Orphanet:976 Orphanet:93593 obsolete nephropathy secondary to a storage or other metabolic disease -MONDO:0013870 TMEM165-congenital disorder of glycosylation MONDO:0018284 Orphanet:314667 Orphanet:371047 obsolete congenital disorder of glycosylation with neurological involvement -MONDO:0013870 TMEM165-congenital disorder of glycosylation MONDO:0018288 Orphanet:314667 Orphanet:371157 obsolete congenital disorder of glycosylation with hepatic involvement -MONDO:0013870 TMEM165-congenital disorder of glycosylation MONDO:0018292 Orphanet:314667 Orphanet:371195 obsolete congenital disorder of glycosylation-related bone disorder -MONDO:0013870 TMEM165-congenital disorder of glycosylation MONDO:0019704 Orphanet:314667 Orphanet:93446 obsolete primary bone dysplasia with decreased bone density -MONDO:0013873 IMAGe syndrome MONDO:0015620 Orphanet:85173 Orphanet:165707 obsolete syndromic urogenital tract malformation -MONDO:0013873 IMAGe syndrome MONDO:0019590 Orphanet:85173 Orphanet:90692 obsolete rare endocrine growth disease -MONDO:0013873 IMAGe syndrome MONDO:0019699 Orphanet:85173 Orphanet:93440 obsolete slender bone dysplasia -MONDO:0013873 IMAGe syndrome MONDO:0035683 Orphanet:85173 Orphanet:595337 obsolete adrenal hypoplasia congenita -MONDO:0013873 IMAGe syndrome MONDO:8000032 Orphanet:85173 Orphanet:377789 obsolete malformation syndrome -MONDO:0013875 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome MONDO:0017718 Orphanet:352328 Orphanet:309136 obsolete mitochondrial disorder due to a defect in assembly or maturation of the respiratory chain complexes -MONDO:0013875 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome MONDO:0018118 Orphanet:352328 Orphanet:352306 obsolete disorder of phospholipids, sphingolipids and fatty acids biosynthesis with central nervous system predominant involvement -MONDO:0013875 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome MONDO:0019058 Orphanet:352328 Orphanet:68385 obsolete neurometabolic disease -MONDO:0013875 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome MONDO:0019589 Orphanet:352328 Orphanet:90642 obsolete syndromic genetic hearing loss -MONDO:0013877 mitochondrial pyruvate carrier deficiency MONDO:0019058 Orphanet:447784 Orphanet:68385 obsolete neurometabolic disease -MONDO:0013881 pidermolysis bullosa, junctional 7, with interstitial lung disease and nephrotic syndrome MONDO:0017016 Orphanet:306504 Orphanet:264670 obsolete primary interstitial lung disease specific to childhood due to alveolar structure disorder -MONDO:0013881 pidermolysis bullosa, junctional 7, with interstitial lung disease and nephrotic syndrome MONDO:0028569 Orphanet:306504 Orphanet:264992 obsolete genetic interstitial lung disease -MONDO:0013885 Malan overgrowth syndrome MONDO:0035863 Orphanet:420179 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0013885 Malan overgrowth syndrome MONDO:8000032 Orphanet:420179 Orphanet:377789 obsolete malformation syndrome -MONDO:0013886 cerebellar dysfunction with variable cognitive and behavioral abnormalities MONDO:0035862 Orphanet:314647 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome -MONDO:0013889 short stature-optic atrophy-Pelger-HuC+t anomaly syndrome MONDO:0015329 Orphanet:391677 Orphanet:139021 obsolete malformation syndrome with short stature -MONDO:0013889 short stature-optic atrophy-Pelger-HuC+t anomaly syndrome MONDO:0018609 Orphanet:391677 Orphanet:441434 obsolete syndromic hereditary optic neuropathy -MONDO:0013889 short stature-optic atrophy-Pelger-HuC+t anomaly syndrome MONDO:0026187 Orphanet:391677 Orphanet:183570 obsolete genetic malformation syndrome with short stature -MONDO:0013889 short stature-optic atrophy-Pelger-HuC+t anomaly syndrome MONDO:8000032 Orphanet:391677 Orphanet:377789 obsolete malformation syndrome -MONDO:0013890 congenital myopathy with internal nuclei and atypical cores MONDO:0015765 Orphanet:319160 Orphanet:172976 obsolete congenital myopathy with cores -MONDO:0013894 short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome MONDO:0019699 Orphanet:314394 Orphanet:93440 obsolete slender bone dysplasia -MONDO:0013905 autosomal recessive spinocerebellar ataxia 13 MONDO:0035862 Orphanet:324262 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome -MONDO:0013905 autosomal recessive spinocerebellar ataxia 13 MONDO:8000031 Orphanet:324262 Orphanet:557494 obsolete subtype of a disorder -MONDO:0013907 bilateral generalized polymicrogyria MONDO:8000031 Orphanet:208447 Orphanet:557494 obsolete subtype of a disorder -MONDO:0013918 distal tetrasomy 15q MONDO:8000031 Orphanet:314588 Orphanet:557494 obsolete subtype of a disorder -MONDO:0013922 Seckel syndrome 7 MONDO:0017950 Orphanet:319675 Orphanet:324761 obsolete microcephalic primordial dwarfism -MONDO:0013922 Seckel syndrome 7 MONDO:8000032 Orphanet:319675 Orphanet:377789 obsolete malformation syndrome -MONDO:0013925 methylmalonic acidemia with homocystinuria, type cblJ MONDO:8000031 Orphanet:369955 Orphanet:557494 obsolete subtype of a disorder -MONDO:0013941 metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria MONDO:0800089 Orphanet:99646 Orphanet:93450 obsolete primary bone dysplasia with disorganized development of skeletal components -MONDO:0013944 autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation MONDO:0017956 Orphanet:324530 Orphanet:324933 obsolete mixed autoinflammatory and autoimmune syndrome -MONDO:0013954 Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency MONDO:0017897 Orphanet:319558 Orphanet:319535 obsolete autosomal recessive mendelian susceptibility to mycobacterial diseases due to a complete deficiency -MONDO:0013955 Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency MONDO:0017897 Orphanet:319552 Orphanet:319535 obsolete autosomal recessive mendelian susceptibility to mycobacterial diseases due to a complete deficiency -MONDO:0013956 Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency MONDO:0017899 Orphanet:319595 Orphanet:319543 obsolete autosomal dominant mendelian susceptibility to mycobacterial diseases due to a partial deficiency -MONDO:0013957 Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency MONDO:0017899 Orphanet:319600 Orphanet:319543 obsolete autosomal dominant mendelian susceptibility to mycobacterial diseases due to a partial deficiency -MONDO:0013960 sinoatrial node dysfunction and deafness MONDO:0015110 Orphanet:324321 Orphanet:101934 obsolete genetic cardiac rhythm disease -MONDO:0013960 sinoatrial node dysfunction and deafness MONDO:0019589 Orphanet:324321 Orphanet:90642 obsolete syndromic genetic hearing loss -MONDO:0013962 hereditary spastic paraplegia 53 MONDO:0015089 Orphanet:319199 Orphanet:100981 obsolete autosomal recessive complex spastic paraplegia -MONDO:0013962 hereditary spastic paraplegia 53 MONDO:0035862 Orphanet:319199 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome -MONDO:0013968 PGM1-congenital disorder of glycosylation MONDO:0018288 Orphanet:319646 Orphanet:371157 obsolete congenital disorder of glycosylation with hepatic involvement -MONDO:0013968 PGM1-congenital disorder of glycosylation MONDO:0018289 Orphanet:319646 Orphanet:371176 obsolete congenital disorder of glycosylation with dilated cardiomyopathy -MONDO:0013969 combined oxidative phosphorylation defect type 11 MONDO:0018157 Orphanet:324535 Orphanet:35696 obsolete mitochondrial disorder due to a defect in mitochondrial protein synthesis -MONDO:0013969 combined oxidative phosphorylation defect type 11 MONDO:0019058 Orphanet:324535 Orphanet:68385 obsolete neurometabolic disease -MONDO:0013970 branched-chain keto acid dehydrogenase kinase deficiency MONDO:0016399 Orphanet:308410 Orphanet:225689 obsolete amino acid or protein metabolism disease with epilepsy -MONDO:0013971 leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome MONDO:0018157 Orphanet:314051 Orphanet:35696 obsolete mitochondrial disorder due to a defect in mitochondrial protein synthesis -MONDO:0013972 Perrault syndrome 2 MONDO:8000031 Orphanet:642976 Orphanet:557494 obsolete subtype of a disorder -MONDO:0013977 combined oxidative phosphorylation defect type 13 MONDO:0018157 Orphanet:319514 Orphanet:35696 obsolete mitochondrial disorder due to a defect in mitochondrial protein synthesis -MONDO:0013981 myoclonus, familial MONDO:0017651 Orphanet:319189 Orphanet:306750 obsolete primary myoclonus -MONDO:0013986 combined oxidative phosphorylation defect type 14 MONDO:0018157 Orphanet:319519 Orphanet:35696 obsolete mitochondrial disorder due to a defect in mitochondrial protein synthesis -MONDO:0013987 combined oxidative phosphorylation defect type 15 MONDO:0018157 Orphanet:319524 Orphanet:35696 obsolete mitochondrial disorder due to a defect in mitochondrial protein synthesis -MONDO:0013990 pontocerebellar hypoplasia type 8 MONDO:8000032 Orphanet:324569 Orphanet:377789 obsolete malformation syndrome -MONDO:0013991 obesity due to congenital leptin deficiency MONDO:0015891 Orphanet:66628 Orphanet:181390 obsolete hypogonadotropic hypogonadism associated with other endocrinopathies -MONDO:0013991 obesity due to congenital leptin deficiency MONDO:8000031 Orphanet:66628 Orphanet:557494 obsolete subtype of a disorder -MONDO:0013992 obesity due to leptin receptor gene deficiency MONDO:0015825 Orphanet:179494 Orphanet:179490 obsolete obesity due to congenital leptin resistance -MONDO:0013992 obesity due to leptin receptor gene deficiency MONDO:0015891 Orphanet:179494 Orphanet:181390 obsolete hypogonadotropic hypogonadism associated with other endocrinopathies -MONDO:0013993 pontocerebellar hypoplasia type 7 MONDO:0035863 Orphanet:284339 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0013993 pontocerebellar hypoplasia type 7 MONDO:8000032 Orphanet:284339 Orphanet:377789 obsolete malformation syndrome -MONDO:0013996 focal facial dermal dysplasia type II MONDO:8000031 Orphanet:398173 Orphanet:557494 obsolete subtype of a disorder -MONDO:0013997 focal facial dermal dysplasia type IV MONDO:8000031 Orphanet:398189 Orphanet:557494 obsolete subtype of a disorder -MONDO:0013999 retinal dystrophy, optic nerve edema, splenomegaly, anhidrosis, and migraine headache syndrome MONDO:0008331 Orphanet:313800 Orphanet:519339 obsolete pseudopapilledema -MONDO:0013999 retinal dystrophy, optic nerve edema, splenomegaly, anhidrosis, and migraine headache syndrome MONDO:0015621 Orphanet:313800 Orphanet:165711 obsolete rare abdominal surgical disease -MONDO:0013999 retinal dystrophy, optic nerve edema, splenomegaly, anhidrosis, and migraine headache syndrome MONDO:0034953 Orphanet:313800 Orphanet:519325 obsolete syndromic inherited retinal disorder -MONDO:0014005 immunoglobulin-mediated membranoproliferative glomerulonephritis MONDO:8000031 Orphanet:329903 Orphanet:557494 obsolete subtype of a disorder -MONDO:0014006 Schuurs-Hoeijmakers syndrome MONDO:0035863 Orphanet:329224 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0014006 Schuurs-Hoeijmakers syndrome MONDO:8000032 Orphanet:329224 Orphanet:377789 obsolete malformation syndrome -MONDO:0014013 maternal riboflavin deficiency MONDO:0017760 Orphanet:411712 Orphanet:309833 obsolete disorder of other vitamins and cofactors metabolism and transport -MONDO:0014014 epidermolysis bullosa simplex 4, localized or generalized intermediate, autosomal recessive MONDO:0035684 Orphanet:412189 Orphanet:595346 obsolete epidermolysis bullosa simplex without extracutaneous involvement -MONDO:0014015 hereditary spastic paraplegia 56 MONDO:0017915 Orphanet:320411 Orphanet:320346 obsolete pure or complex autosomal recessive spastic paraplegia -MONDO:0014015 hereditary spastic paraplegia 56 MONDO:0035862 Orphanet:320411 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome -MONDO:0014016 hereditary spastic paraplegia 49 MONDO:0015089 Orphanet:320385 Orphanet:100981 obsolete autosomal recessive complex spastic paraplegia -MONDO:0014016 hereditary spastic paraplegia 49 MONDO:0015366 Orphanet:320385 Orphanet:140477 obsolete autosomal recessive hereditary sensory and autonomic neuropathy -MONDO:0014016 hereditary spastic paraplegia 49 MONDO:0035862 Orphanet:320385 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome -MONDO:0014017 intellectual developmental disorder with autism and macrocephaly MONDO:0035863 Orphanet:642675 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0014018 hereditary spastic paraplegia 54 MONDO:0015089 Orphanet:320380 Orphanet:100981 obsolete autosomal recessive complex spastic paraplegia -MONDO:0014018 hereditary spastic paraplegia 54 MONDO:0035862 Orphanet:320380 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome -MONDO:0014020 hereditary spastic paraplegia 55 MONDO:0018550 Orphanet:320375 Orphanet:431320 obsolete spastic paraplegia-optic atrophy-neuropathy and spastic paraplegia-optic atrophy-neuropathy-related disorder -MONDO:0014020 hereditary spastic paraplegia 55 MONDO:0044655 Orphanet:320375 Orphanet:497623 obsolete c12orf65-related combined oxidative phosphorylation defect -MONDO:0014021 familial episodic pain syndrome with predominantly upper body involvement MONDO:8000031 Orphanet:391389 Orphanet:557494 obsolete subtype of a disorder -MONDO:0014023 congenital muscular dystrophy with intellectual disability and severe epilepsy MONDO:0018287 Orphanet:329178 Orphanet:371071 obsolete congenital disorder of glycosylation with epilepsy as a major feature -MONDO:0014023 congenital muscular dystrophy with intellectual disability and severe epilepsy MONDO:0018288 Orphanet:329178 Orphanet:371157 obsolete congenital disorder of glycosylation with hepatic involvement -MONDO:0014023 congenital muscular dystrophy with intellectual disability and severe epilepsy MONDO:0035862 Orphanet:329178 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome -MONDO:0014024 hereditary spastic paraplegia 43 MONDO:0015089 Orphanet:320370 Orphanet:100981 obsolete autosomal recessive complex spastic paraplegia -MONDO:0014025 lower motor neuron syndrome with late-adult onset MONDO:0016224 Orphanet:276435 Orphanet:211037 obsolete autosomal dominant proximal spinal muscular atrophy -MONDO:0014031 microcephalic primordial dwarfism, Alazami type MONDO:0017950 Orphanet:319671 Orphanet:324761 obsolete microcephalic primordial dwarfism -MONDO:0014031 microcephalic primordial dwarfism, Alazami type MONDO:8000032 Orphanet:319671 Orphanet:377789 obsolete malformation syndrome -MONDO:0014034 severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome MONDO:0035863 Orphanet:363686 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0014035 severe intellectual disability-progressive spastic diplegia syndrome MONDO:0035863 Orphanet:404473 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0014035 severe intellectual disability-progressive spastic diplegia syndrome MONDO:8000032 Orphanet:404473 Orphanet:377789 obsolete malformation syndrome -MONDO:0014039 mitochondrial DNA depletion syndrome 11 MONDO:0019058 Orphanet:352447 Orphanet:68385 obsolete neurometabolic disease -MONDO:0014039 mitochondrial DNA depletion syndrome 11 MONDO:0035862 Orphanet:352447 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome -MONDO:0014043 microcephalic primordial dwarfism due to ZNF335 deficiency MONDO:0017950 Orphanet:329228 Orphanet:324761 obsolete microcephalic primordial dwarfism -MONDO:0014043 microcephalic primordial dwarfism due to ZNF335 deficiency MONDO:8000032 Orphanet:329228 Orphanet:377789 obsolete malformation syndrome -MONDO:0014044 dysmorphism-conductive hearing loss-heart defect syndrome MONDO:0019589 Orphanet:289553 Orphanet:90642 obsolete syndromic genetic hearing loss -MONDO:0014044 dysmorphism-conductive hearing loss-heart defect syndrome MONDO:0035863 Orphanet:289553 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0014044 dysmorphism-conductive hearing loss-heart defect syndrome MONDO:8000032 Orphanet:289553 Orphanet:377789 obsolete malformation syndrome -MONDO:0014058 facial dysmorphism-immunodeficiency-livedo-short stature syndrome MONDO:0015329 Orphanet:352712 Orphanet:139021 obsolete malformation syndrome with short stature -MONDO:0014058 facial dysmorphism-immunodeficiency-livedo-short stature syndrome MONDO:0015331 Orphanet:352712 Orphanet:139027 obsolete malformation syndrome with skin/mucosae involvement -MONDO:0014058 facial dysmorphism-immunodeficiency-livedo-short stature syndrome MONDO:0018035 Orphanet:352712 Orphanet:331217 obsolete syndrome with combined immunodeficiency -MONDO:0014058 facial dysmorphism-immunodeficiency-livedo-short stature syndrome MONDO:0026187 Orphanet:352712 Orphanet:183570 obsolete genetic malformation syndrome with short stature -MONDO:0014060 progressive retinal dystrophy due to retinol transport defect MONDO:0017760 Orphanet:352718 Orphanet:309833 obsolete disorder of other vitamins and cofactors metabolism and transport -MONDO:0014060 progressive retinal dystrophy due to retinol transport defect MONDO:0034953 Orphanet:352718 Orphanet:519325 obsolete syndromic inherited retinal disorder -MONDO:0014061 Steel syndrome MONDO:0800086 Orphanet:438117 Orphanet:93441 obsolete primary bone dysplasia with multiple joint dislocations -MONDO:0014062 mitochondrial DNA deletion syndrome with progressive myopathy MONDO:0016797 Orphanet:352470 Orphanet:254807 obsolete multiple mitochondrial DNA deletion syndrome -MONDO:0014067 short ulna-dysmorphism-hypotonia-intellectual disability syndrome MONDO:0035863 Orphanet:357175 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0014067 short ulna-dysmorphism-hypotonia-intellectual disability syndrome MONDO:8000032 Orphanet:357175 Orphanet:377789 obsolete malformation syndrome -MONDO:0014069 syndactyly-camptodactyly and clinodactyly of fifth fingers-bifid toes syndrome MONDO:0017434 Orphanet:357332 Orphanet:294959 obsolete syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy -MONDO:0014069 syndactyly-camptodactyly and clinodactyly of fifth fingers-bifid toes syndrome MONDO:8000032 Orphanet:357332 Orphanet:377789 obsolete malformation syndrome -MONDO:0014080 osteosclerotic metaphyseal dysplasia MONDO:8000032 Orphanet:500548 Orphanet:377789 obsolete malformation syndrome -MONDO:0014089 corneal intraepithelial dyskeratosis-palmoplantar hyperkeratosis-laryngeal dyskeratosis syndrome MONDO:0020094 Orphanet:352662 Orphanet:98352 obsolete autosomal dominant disease with diffuse palmoplantar keratoderma as a major feature -MONDO:0014094 severe congenital hypochromic anemia with ringed sideroblasts MONDO:0020098 Orphanet:300298 Orphanet:98360 obsolete constitutional anemia due to iron metabolism disorder -MONDO:0014097 congenital short bowel syndrome MONDO:0015211 Orphanet:2301 Orphanet:108967 obsolete non-syndromic intestinal malformation -MONDO:0014097 congenital short bowel syndrome MONDO:0018241 Orphanet:2301 Orphanet:365563 obsolete primary short bowel syndrome -MONDO:0014097 congenital short bowel syndrome MONDO:8000030 Orphanet:2301 Orphanet:377791 obsolete morphological anomaly -MONDO:0014118 congenital neutropenia-myelofibrosis-nephromegaly syndrome MONDO:0018032 Orphanet:369852 Orphanet:331184 obsolete constitutional neutropenia with extra-hematopoietic manifestations -MONDO:0014119 intellectual disability-strabismus syndrome MONDO:0020253 Orphanet:363528 Orphanet:98683 obsolete syndrome with a symptomatic strabismus -MONDO:0014119 intellectual disability-strabismus syndrome MONDO:0035863 Orphanet:363528 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0014121 autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures MONDO:8000031 Orphanet:363454 Orphanet:557494 obsolete subtype of a disorder -MONDO:0014131 hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome MONDO:0017671 Orphanet:363523 Orphanet:307804 obsolete autosomal recessive disease with diffuse palmoplantar keratoderma as a major feature -MONDO:0014131 hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome MONDO:0020014 Orphanet:363523 Orphanet:98027 obsolete rare disease with odontological manifestation -MONDO:0014131 hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome MONDO:0035862 Orphanet:363523 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome -MONDO:0014139 Ehlers-Danlos syndrome, spondylodysplastic type, 2 MONDO:0017742 Orphanet:536467 Orphanet:309450 obsolete disorder of O-xylosylglycan synthesis -MONDO:0014139 Ehlers-Danlos syndrome, spondylodysplastic type, 2 MONDO:0018292 Orphanet:536467 Orphanet:371195 obsolete congenital disorder of glycosylation-related bone disorder -MONDO:0014139 Ehlers-Danlos syndrome, spondylodysplastic type, 2 MONDO:0019704 Orphanet:536467 Orphanet:93446 obsolete primary bone dysplasia with decreased bone density -MONDO:0014139 Ehlers-Danlos syndrome, spondylodysplastic type, 2 MONDO:0035862 Orphanet:536467 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome -MONDO:0014139 Ehlers-Danlos syndrome, spondylodysplastic type, 2 MONDO:8000031 Orphanet:536467 Orphanet:557494 obsolete subtype of a disorder -MONDO:0014142 autosomal recessive limb-girdle muscular dystrophy type 2T MONDO:0017745 Orphanet:363623 Orphanet:309469 obsolete disorder of O-mannosylglycan synthesis -MONDO:0014142 autosomal recessive limb-girdle muscular dystrophy type 2T MONDO:0018284 Orphanet:363623 Orphanet:371047 obsolete congenital disorder of glycosylation with neurological involvement -MONDO:0014142 autosomal recessive limb-girdle muscular dystrophy type 2T MONDO:0035862 Orphanet:363623 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome -MONDO:0014147 neuronal ceroid lipofuscinosis 13 MONDO:8000031 Orphanet:352709 Orphanet:557494 obsolete subtype of a disorder -MONDO:0014148 estrogen resistance syndrome MONDO:0015513 Orphanet:785 Orphanet:156638 obsolete rare genetic endocrine disease -MONDO:0014148 estrogen resistance syndrome MONDO:0015860 Orphanet:785 Orphanet:180208 obsolete anomaly of puberty or/and menstrual cycle -MONDO:0014148 estrogen resistance syndrome MONDO:0016072 Orphanet:785 Orphanet:202940 obsolete anomaly of puberty or/and menstrual cycle of genetic origin -MONDO:0014148 estrogen resistance syndrome MONDO:0018397 Orphanet:785 Orphanet:399831 obsolete female infertility due to hypothalamic-pituitary-gonadal axis disorder -MONDO:0014148 estrogen resistance syndrome MONDO:0018411 Orphanet:785 Orphanet:400011 obsolete rare female infertility due to hypothalamic-pituitary-gonadal axis disorder of genetic origin -MONDO:0014148 estrogen resistance syndrome MONDO:0020005 Orphanet:785 Orphanet:97978 obsolete rare endocrine disease -MONDO:0014157 mandibular hypoplasia-deafness-progeroid syndrome MONDO:0019589 Orphanet:363649 Orphanet:90642 obsolete syndromic genetic hearing loss -MONDO:0014157 mandibular hypoplasia-deafness-progeroid syndrome MONDO:0031689 Orphanet:363649 Orphanet:363245 obsolete genetic progeroid syndrome -MONDO:0014159 autosomal recessive spinocerebellar ataxia 14 MONDO:0035862 Orphanet:352403 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome -MONDO:0014162 infantile hypertrophic cardiomyopathy due to MRPL44 deficiency MONDO:0016327 Orphanet:352563 Orphanet:217587 obsolete mitochondrial disease with hypertrophic cardiomyopathy -MONDO:0014162 infantile hypertrophic cardiomyopathy due to MRPL44 deficiency MONDO:0018157 Orphanet:352563 Orphanet:35696 obsolete mitochondrial disorder due to a defect in mitochondrial protein synthesis -MONDO:0014165 multiple congenital anomalies-hypotonia-seizures syndrome 3 MONDO:0018292 Orphanet:369837 Orphanet:371195 obsolete congenital disorder of glycosylation-related bone disorder -MONDO:0014165 multiple congenital anomalies-hypotonia-seizures syndrome 3 MONDO:0035863 Orphanet:369837 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0014165 multiple congenital anomalies-hypotonia-seizures syndrome 3 MONDO:8000032 Orphanet:369837 Orphanet:377789 obsolete malformation syndrome -MONDO:0014176 hypotonia, infantile, with psychomotor retardation and characteristic facies MONDO:0015918 Orphanet:371364 Orphanet:182070 obsolete rare neurodegenerative disease -MONDO:0014176 hypotonia, infantile, with psychomotor retardation and characteristic facies MONDO:0035863 Orphanet:371364 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0014180 epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency MONDO:0035684 Orphanet:412181 Orphanet:595346 obsolete epidermolysis bullosa simplex without extracutaneous involvement -MONDO:0014185 chromosome 3q13.31 deletion syndrome MONDO:8000032 Orphanet:1621 Orphanet:377789 obsolete malformation syndrome -MONDO:0014190 combined oxidative phosphorylation defect type 17 MONDO:0016327 Orphanet:369913 Orphanet:217587 obsolete mitochondrial disease with hypertrophic cardiomyopathy -MONDO:0014190 combined oxidative phosphorylation defect type 17 MONDO:0018157 Orphanet:369913 Orphanet:35696 obsolete mitochondrial disorder due to a defect in mitochondrial protein synthesis -MONDO:0014196 Hartsfield-Bixler-Demyer syndrome MONDO:0015335 Orphanet:2117 Orphanet:139039 obsolete Mendelian syndromes with cleft lip/palate -MONDO:0014196 Hartsfield-Bixler-Demyer syndrome MONDO:0017120 Orphanet:2117 Orphanet:269531 obsolete other syndrome with a central nervous system malformation as major feature -MONDO:0014196 Hartsfield-Bixler-Demyer syndrome MONDO:0035863 Orphanet:2117 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0014196 Hartsfield-Bixler-Demyer syndrome MONDO:0800090 Orphanet:2117 Orphanet:498477 obsolete ectrodactyly with and without other manifestations -MONDO:0014196 Hartsfield-Bixler-Demyer syndrome MONDO:8000032 Orphanet:2117 Orphanet:377789 obsolete malformation syndrome -MONDO:0014200 aldosterone-producing adenoma with seizures and neurological abnormalities MONDO:0016507 Orphanet:369929 Orphanet:231637 obsolete rare surgically correctable form of primary aldosteronism -MONDO:0014205 severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome MONDO:0035863 Orphanet:352577 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0014206 severe early-onset pulmonary alveolar proteinosis due to MARS deficiency MONDO:0015052 Orphanet:440427 Orphanet:100049 obsolete primary interstitial lung disease specific to childhood due to pulmonary surfactant protein anomalies -MONDO:0014206 severe early-onset pulmonary alveolar proteinosis due to MARS deficiency MONDO:0015114 Orphanet:440427 Orphanet:101939 obsolete rare parenchymal liver disease -MONDO:0014206 severe early-onset pulmonary alveolar proteinosis due to MARS deficiency MONDO:0015508 Orphanet:440427 Orphanet:156604 obsolete hereditary parenchymatous liver disease -MONDO:0014208 Charcot-Marie-Tooth disease type 2R MONDO:0019601 Orphanet:397968 Orphanet:91024 obsolete autosomal recessive axonal hereditary motor and sensory neuropathy -MONDO:0014209 early-onset progressive neurodegeneration-blindness-ataxia-spasticity syndrome MONDO:0015918 Orphanet:352654 Orphanet:182070 obsolete rare neurodegenerative disease -MONDO:0014209 early-onset progressive neurodegeneration-blindness-ataxia-spasticity syndrome MONDO:0018609 Orphanet:352654 Orphanet:441434 obsolete syndromic hereditary optic neuropathy -MONDO:0014210 intellectual disability-hypotonia-spasticity-sleep disorder syndrome MONDO:0035862 Orphanet:356996 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome -MONDO:0014213 intellectual disability-feeding difficulties-developmental delay-microcephaly syndrome MONDO:0035863 Orphanet:363611 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0014218 severe dermatitis-multiple allergies-metabolic wasting syndrome MONDO:0019274 Orphanet:369992 Orphanet:79359 obsolete other epidermal disorder -MONDO:0014218 severe dermatitis-multiple allergies-metabolic wasting syndrome MONDO:0019275 Orphanet:369992 Orphanet:79360 obsolete other genetic epidermal disease -MONDO:0014218 severe dermatitis-multiple allergies-metabolic wasting syndrome MONDO:0020027 Orphanet:369992 Orphanet:98050 obsolete rare allergic disease -MONDO:0014221 triosephosphate isomerase deficiency MONDO:0016401 Orphanet:868 Orphanet:225696 obsolete energy metabolism disorder with epilepsy -MONDO:0014221 triosephosphate isomerase deficiency MONDO:0019058 Orphanet:868 Orphanet:68385 obsolete neurometabolic disease -MONDO:0014221 triosephosphate isomerase deficiency MONDO:0020106 Orphanet:868 Orphanet:98372 obsolete hemolytic anemia due to a disorder of glycolytic enzymes -MONDO:0014224 developmental delay with autism spectrum disorder and gait instability MONDO:0015878 Orphanet:329195 Orphanet:180772 obsolete rare disease with autism -MONDO:0014225 hemochromatosis type 5 MONDO:0015115 Orphanet:247790 Orphanet:101940 obsolete rare genetic metabolic liver disease -MONDO:0014226 idiopathic CD4 lymphocytopenia MONDO:0032011 Orphanet:228000 Orphanet:377790 obsolete biological anomaly -MONDO:0014227 hypopigmentation-punctate palmoplantar keratoderma syndrome MONDO:0017679 Orphanet:324561 Orphanet:308031 obsolete obsolete autosomal dominant disease associated with punctate palmoplantar keratoderma as a major feature -MONDO:0014238 severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome MONDO:0035863 Orphanet:391307 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0014238 severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome MONDO:8000032 Orphanet:391307 Orphanet:377789 obsolete malformation syndrome -MONDO:0014244 hereditary sensory and autonomic neuropathy type 7 MONDO:0015365 Orphanet:391397 Orphanet:140474 obsolete autosomal dominant hereditary sensory and autonomic neuropathy -MONDO:0014247 familial episodic pain syndrome with predominantly lower limb involvement MONDO:8000031 Orphanet:391392 Orphanet:557494 obsolete subtype of a disorder -MONDO:0014248 autism spectrum disorder - epilepsy - arthrogryposis syndrome MONDO:0015878 Orphanet:370943 Orphanet:180772 obsolete rare disease with autism -MONDO:0014248 autism spectrum disorder - epilepsy - arthrogryposis syndrome MONDO:0018287 Orphanet:370943 Orphanet:371071 obsolete congenital disorder of glycosylation with epilepsy as a major feature -MONDO:0014248 autism spectrum disorder - epilepsy - arthrogryposis syndrome MONDO:0018296 Orphanet:370943 Orphanet:371235 obsolete congenital disorder of glycosylation with developmental anomaly -MONDO:0014248 autism spectrum disorder - epilepsy - arthrogryposis syndrome MONDO:0035862 Orphanet:370943 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome -MONDO:0014250 familial hyperprolactinemia MONDO:0015889 Orphanet:397685 Orphanet:181384 obsolete rare hypothalamic or pituitary disease -MONDO:0014250 familial hyperprolactinemia MONDO:0015968 Orphanet:397685 Orphanet:183628 obsolete rare genetic hypothalamic or pituitary disease -MONDO:0014250 familial hyperprolactinemia MONDO:0018386 Orphanet:397685 Orphanet:399572 obsolete rare male infertility due to hypothalamic-pituitary-gonadal axis disorder -MONDO:0014250 familial hyperprolactinemia MONDO:0018397 Orphanet:397685 Orphanet:399831 obsolete female infertility due to hypothalamic-pituitary-gonadal axis disorder -MONDO:0014250 familial hyperprolactinemia MONDO:0018405 Orphanet:397685 Orphanet:399983 obsolete rare male infertility due to hypothalamic-pituitary-gonadal axis disorder of genetic origin -MONDO:0014250 familial hyperprolactinemia MONDO:0018411 Orphanet:397685 Orphanet:400011 obsolete rare female infertility due to hypothalamic-pituitary-gonadal axis disorder of genetic origin -MONDO:0014258 congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome MONDO:0018318 Orphanet:391376 Orphanet:391381 obsolete disorder of asparagine metabolism -MONDO:0014258 congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome MONDO:0019058 Orphanet:391376 Orphanet:68385 obsolete neurometabolic disease -MONDO:0014261 growth and developmental delay-hypotonia-vision impairment-lactic acidosis syndrome MONDO:0016799 Orphanet:391348 Orphanet:254822 obsolete mitochondrial oxidative phosphorylation disorder with no known mechanism -MONDO:0014261 growth and developmental delay-hypotonia-vision impairment-lactic acidosis syndrome MONDO:0019058 Orphanet:391348 Orphanet:68385 obsolete neurometabolic disease -MONDO:0014263 8q24.3 microdeletion syndrome MONDO:0015329 Orphanet:508488 Orphanet:139021 obsolete malformation syndrome with short stature -MONDO:0014263 8q24.3 microdeletion syndrome MONDO:0015506 Orphanet:508488 Orphanet:156532 obsolete rare syndrome with cardiac malformations -MONDO:0014263 8q24.3 microdeletion syndrome MONDO:0019721 Orphanet:508488 Orphanet:93547 obsolete syndromic renal or urinary tract malformation -MONDO:0014263 8q24.3 microdeletion syndrome MONDO:0026187 Orphanet:508488 Orphanet:183570 obsolete genetic malformation syndrome with short stature -MONDO:0014263 8q24.3 microdeletion syndrome MONDO:0035863 Orphanet:508488 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0014263 8q24.3 microdeletion syndrome MONDO:8000032 Orphanet:508488 Orphanet:377789 obsolete malformation syndrome -MONDO:0014270 STT3A-congenital disorder of glycosylation MONDO:0018287 Orphanet:370921 Orphanet:371071 obsolete congenital disorder of glycosylation with epilepsy as a major feature -MONDO:0014270 STT3A-congenital disorder of glycosylation MONDO:0035862 Orphanet:370921 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome -MONDO:0014271 STT3B-congenital disorder of glycosylation MONDO:0018287 Orphanet:370924 Orphanet:371071 obsolete congenital disorder of glycosylation with epilepsy as a major feature -MONDO:0014271 STT3B-congenital disorder of glycosylation MONDO:0035862 Orphanet:370924 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome -MONDO:0014272 palmoplantar keratoderma, Nagashima type MONDO:0020096 Orphanet:140966 Orphanet:98356 obsolete autosomal recessive isolated diffuse palmoplantar keratoderma -MONDO:0014272 palmoplantar keratoderma, Nagashima type MONDO:0027751 Orphanet:140966 Orphanet:250811 obsolete serpinopathy with loss of serpin function -MONDO:0014273 microcephaly-thin corpus callosum-intellectual disability syndrome MONDO:0035863 Orphanet:397951 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0014274 L-ferritin deficiency MONDO:0015549 Orphanet:440731 Orphanet:158300 obsolete rare genetic hematologic disease -MONDO:0014274 L-ferritin deficiency MONDO:0032011 Orphanet:440731 Orphanet:377790 obsolete biological anomaly -MONDO:0014282 hereditary spastic paraplegia 72 MONDO:0015088 Orphanet:401849 Orphanet:100980 obsolete autosomal dominant pure spastic paraplegia -MONDO:0014282 hereditary spastic paraplegia 72 MONDO:0015090 Orphanet:401849 Orphanet:100982 obsolete autosomal recessive pure spastic paraplegia -MONDO:0014289 macrocephaly-developmental delay syndrome MONDO:0035863 Orphanet:397612 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0014289 macrocephaly-developmental delay syndrome MONDO:8000032 Orphanet:397612 Orphanet:377789 obsolete malformation syndrome -MONDO:0014290 neurodegeneration with brain iron accumulation 6 MONDO:0035862 Orphanet:397725 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome -MONDO:0014294 chromosome 15q11.2 deletion syndrome MONDO:8000032 Orphanet:261183 Orphanet:377789 obsolete malformation syndrome -MONDO:0014295 hereditary spastic paraplegia 57 MONDO:0018550 Orphanet:431329 Orphanet:431320 obsolete spastic paraplegia-optic atrophy-neuropathy and spastic paraplegia-optic atrophy-neuropathy-related disorder -MONDO:0014298 chromosome 5q12 deletion syndrome MONDO:0035863 Orphanet:439822 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0014298 chromosome 5q12 deletion syndrome MONDO:8000032 Orphanet:439822 Orphanet:377789 obsolete malformation syndrome -MONDO:0014300 proximal myopathy with extrapyramidal signs MONDO:0015918 Orphanet:401768 Orphanet:182070 obsolete rare neurodegenerative disease -MONDO:0014300 proximal myopathy with extrapyramidal signs MONDO:0016110 Orphanet:401768 Orphanet:206656 obsolete non-dystrophic myopathy -MONDO:0014300 proximal myopathy with extrapyramidal signs MONDO:0017641 Orphanet:401768 Orphanet:306695 obsolete miscellaneous movement disorder due to neurodegenerative disease -MONDO:0014300 proximal myopathy with extrapyramidal signs MONDO:0017662 Orphanet:401768 Orphanet:307058 obsolete miscellaneous movement disorder due to genetic neurodegenerative disease -MONDO:0014300 proximal myopathy with extrapyramidal signs MONDO:0035862 Orphanet:401768 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome -MONDO:0014302 hereditary spastic paraplegia 62 MONDO:0015090 Orphanet:401785 Orphanet:100982 obsolete autosomal recessive pure spastic paraplegia -MONDO:0014303 hereditary spastic paraplegia 64 MONDO:0015089 Orphanet:401810 Orphanet:100981 obsolete autosomal recessive complex spastic paraplegia -MONDO:0014303 hereditary spastic paraplegia 64 MONDO:0035862 Orphanet:401810 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome -MONDO:0014304 hereditary spastic paraplegia 61 MONDO:0015089 Orphanet:401780 Orphanet:100981 obsolete autosomal recessive complex spastic paraplegia -MONDO:0014305 hereditary spastic paraplegia 63 MONDO:0015089 Orphanet:401805 Orphanet:100981 obsolete autosomal recessive complex spastic paraplegia -MONDO:0014306 vasculitis due to ADA2 deficiency MONDO:0015489 Orphanet:404553 Orphanet:156143 obsolete predominantly medium-vessel vasculitis -MONDO:0014306 vasculitis due to ADA2 deficiency MONDO:0015710 Orphanet:404553 Orphanet:169361 obsolete immune dysregulation disease with immunodeficiency -MONDO:0014306 vasculitis due to ADA2 deficiency MONDO:0016517 Orphanet:404553 Orphanet:233655 obsolete rare genetic vascular disease -MONDO:0014306 vasculitis due to ADA2 deficiency MONDO:0018782 Orphanet:404553 Orphanet:477647 obsolete type 1 interferonopathy -MONDO:0014309 obesity due to CEP19 deficiency MONDO:8000031 Orphanet:397615 Orphanet:557494 obsolete subtype of a disorder -MONDO:0014310 hereditary sclerosing poikiloderma with tendon and pulmonary involvement MONDO:0016110 Orphanet:221043 Orphanet:206656 obsolete non-dystrophic myopathy -MONDO:0014310 hereditary sclerosing poikiloderma with tendon and pulmonary involvement MONDO:0017027 Orphanet:221043 Orphanet:264740 obsolete primary interstitial lung disease specific to adulthood -MONDO:0014310 hereditary sclerosing poikiloderma with tendon and pulmonary involvement MONDO:0028569 Orphanet:221043 Orphanet:264992 obsolete genetic interstitial lung disease -MONDO:0014313 autosomal recessive primary immunodeficiency with defective spontaneous natural killer cell cytotoxicity MONDO:0018545 Orphanet:437552 Orphanet:431156 obsolete primary immunodeficiency with predisposition to severe viral infection -MONDO:0014314 sacral agenesis-abnormal ossification of the vertebral bodies-persistent notochordal canal syndrome MONDO:0017085 Orphanet:397927 Orphanet:268843 obsolete malformation of the neurenteric canal, spinal cord and column -MONDO:0014314 sacral agenesis-abnormal ossification of the vertebral bodies-persistent notochordal canal syndrome MONDO:8000032 Orphanet:397927 Orphanet:377789 obsolete malformation syndrome -MONDO:0014320 Bosch-Boonstra-Schaaf optic atrophy syndrome MONDO:0018609 Orphanet:401777 Orphanet:441434 obsolete syndromic hereditary optic neuropathy -MONDO:0014320 Bosch-Boonstra-Schaaf optic atrophy syndrome MONDO:0035862 Orphanet:401777 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome -MONDO:0014327 palmoplantar keratoderma, nonepidermolytic, focal or diffuse MONDO:0017673 Orphanet:402003 Orphanet:307846 obsolete isolated focal palmoplantar keratoderma -MONDO:0014331 Moyamoya disease with early-onset achalasia MONDO:0015111 Orphanet:401945 Orphanet:101936 obsolete gastroesophageal disease -MONDO:0014331 Moyamoya disease with early-onset achalasia MONDO:0015617 Orphanet:401945 Orphanet:165658 obsolete hereditary gastro-esophageal disease -MONDO:0014331 Moyamoya disease with early-onset achalasia MONDO:0018792 Orphanet:401945 Orphanet:477771 obsolete Moyamoya syndrome -MONDO:0014335 diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome MONDO:0015655 Orphanet:404437 Orphanet:166478 obsolete cerebral malformation with epilepsy -MONDO:0014335 diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome MONDO:0017119 Orphanet:404437 Orphanet:269528 obsolete syndrome with microcephaly as major feature -MONDO:0014335 diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome MONDO:8000032 Orphanet:404437 Orphanet:377789 obsolete malformation syndrome -MONDO:0014336 intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency MONDO:0035863 Orphanet:404440 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0014336 intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency MONDO:8000032 Orphanet:404440 Orphanet:377789 obsolete malformation syndrome -MONDO:0014338 IL21-related infantile inflammatory bowel disease MONDO:0015187 Orphanet:477661 Orphanet:104012 obsolete rare inflammatory bowel disease -MONDO:0014338 IL21-related infantile inflammatory bowel disease MONDO:0015616 Orphanet:477661 Orphanet:165655 obsolete rare genetic intestinal disease -MONDO:0014339 autosomal recessive spinocerebellar ataxia 16 MONDO:0035862 Orphanet:412057 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome -MONDO:0014342 female infertility due to zona pellucida defect MONDO:0018444 Orphanet:404466 Orphanet:404469 obsolete female infertility due to fertilization defect -MONDO:0014349 pontocerebellar hypoplasia type 10 MONDO:0035863 Orphanet:411493 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0014349 pontocerebellar hypoplasia type 10 MONDO:8000032 Orphanet:411493 Orphanet:377789 obsolete malformation syndrome -MONDO:0014351 pontocerebellar hypoplasia type 9 MONDO:8000032 Orphanet:369920 Orphanet:377789 obsolete malformation syndrome -MONDO:0014353 immunodeficiency 23 MONDO:0035862 Orphanet:443811 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome -MONDO:0014358 AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome MONDO:0035862 Orphanet:412069 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome -MONDO:0014358 AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome MONDO:8000032 Orphanet:412069 Orphanet:377789 obsolete malformation syndrome -MONDO:0014361 autism spectrum disorder due to AUTS2 deficiency MONDO:0015878 Orphanet:352490 Orphanet:180772 obsolete rare disease with autism -MONDO:0014361 autism spectrum disorder due to AUTS2 deficiency MONDO:0035863 Orphanet:352490 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0014369 postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome MONDO:0017434 Orphanet:420584 Orphanet:294959 obsolete syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy -MONDO:0014369 postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome MONDO:0019827 Orphanet:420584 Orphanet:95495 obsolete disease associated with non-acquired combined pituitary hormone deficiency -MONDO:0014369 postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome MONDO:8000032 Orphanet:420584 Orphanet:377789 obsolete malformation syndrome -MONDO:0014371 developmental and epileptic encephalopathy, 23 MONDO:0034962 Orphanet:411986 Orphanet:519343 obsolete rare ophthalmic disorder with cortical involvement -MONDO:0014371 developmental and epileptic encephalopathy, 23 MONDO:0035863 Orphanet:411986 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0014371 developmental and epileptic encephalopathy, 23 MONDO:8000032 Orphanet:411986 Orphanet:377789 obsolete malformation syndrome -MONDO:0014375 congenital diarrhea 7 with exudative enteropathy MONDO:0019126 Orphanet:329242 Orphanet:73014 obsolete intractable diarrhea of infancy -MONDO:0014375 congenital diarrhea 7 with exudative enteropathy MONDO:0031697 Orphanet:329242 Orphanet:363300 obsolete genetic intractable diarrhea of infancy -MONDO:0014379 ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder MONDO:0035863 Orphanet:404448 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0014379 ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder MONDO:8000032 Orphanet:404448 Orphanet:377789 obsolete malformation syndrome -MONDO:0014380 colobomatous microphthalmia-rhizomelic dysplasia syndrome MONDO:0015329 Orphanet:424099 Orphanet:139021 obsolete malformation syndrome with short stature -MONDO:0014380 colobomatous microphthalmia-rhizomelic dysplasia syndrome MONDO:0019697 Orphanet:424099 Orphanet:93438 obsolete mesomelic and rhizo-mesomelic dysplasia -MONDO:0014380 colobomatous microphthalmia-rhizomelic dysplasia syndrome MONDO:0026187 Orphanet:424099 Orphanet:183570 obsolete genetic malformation syndrome with short stature -MONDO:0014380 colobomatous microphthalmia-rhizomelic dysplasia syndrome MONDO:8000032 Orphanet:424099 Orphanet:377789 obsolete malformation syndrome -MONDO:0014381 cholestasis, progressive familial intrahepatic, 4 MONDO:8000031 Orphanet:480483 Orphanet:557494 obsolete subtype of a disorder -MONDO:0014382 Tatton-Brown-Rahman overgrowth syndrome MONDO:0035863 Orphanet:404443 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0014382 Tatton-Brown-Rahman overgrowth syndrome MONDO:8000032 Orphanet:404443 Orphanet:377789 obsolete malformation syndrome -MONDO:0014386 platelet-type bleeding disorder 18 MONDO:0017142 Orphanet:420566 Orphanet:275736 obsolete hemorrhagic disorder due to a qualitative platelet defect -MONDO:0014388 familial median cleft of the upper and lower lips MONDO:0015412 Orphanet:401942 Orphanet:141234 obsolete median facial cleft -MONDO:0014388 familial median cleft of the upper and lower lips MONDO:0033056 Orphanet:401942 Orphanet:414726 obsolete genetic facial cleft -MONDO:0014388 familial median cleft of the upper and lower lips MONDO:8000032 Orphanet:401942 Orphanet:377789 obsolete malformation syndrome -MONDO:0014389 polyglucosan body myopathy 1 with or without immunodeficiency MONDO:0016118 Orphanet:397937 Orphanet:206959 obsolete muscular glycogenosis -MONDO:0014389 polyglucosan body myopathy 1 with or without immunodeficiency MONDO:0016334 Orphanet:397937 Orphanet:217610 obsolete neuromuscular disease with dilated cardiomyopathy -MONDO:0014389 polyglucosan body myopathy 1 with or without immunodeficiency MONDO:0019058 Orphanet:397937 Orphanet:68385 obsolete neurometabolic disease -MONDO:0014397 combined oxidative phosphorylation defect type 20 MONDO:0018157 Orphanet:420728 Orphanet:35696 obsolete mitochondrial disorder due to a defect in mitochondrial protein synthesis -MONDO:0014397 combined oxidative phosphorylation defect type 20 MONDO:0019058 Orphanet:420728 Orphanet:68385 obsolete neurometabolic disease -MONDO:0014398 combined oxidative phosphorylation defect type 21 MONDO:0018157 Orphanet:420733 Orphanet:35696 obsolete mitochondrial disorder due to a defect in mitochondrial protein synthesis -MONDO:0014398 combined oxidative phosphorylation defect type 21 MONDO:0019058 Orphanet:420733 Orphanet:68385 obsolete neurometabolic disease -MONDO:0014399 ataxia-telangiectasia-like disorder 2 MONDO:0015331 Orphanet:438134 Orphanet:139027 obsolete malformation syndrome with skin/mucosae involvement -MONDO:0014399 ataxia-telangiectasia-like disorder 2 MONDO:0015918 Orphanet:438134 Orphanet:182070 obsolete rare neurodegenerative disease -MONDO:0014399 ataxia-telangiectasia-like disorder 2 MONDO:0015945 Orphanet:438134 Orphanet:183422 obsolete polymalformative genetic syndrome with increased risk of developing cancer -MONDO:0014399 ataxia-telangiectasia-like disorder 2 MONDO:0019589 Orphanet:438134 Orphanet:90642 obsolete syndromic genetic hearing loss -MONDO:0014399 ataxia-telangiectasia-like disorder 2 MONDO:0031689 Orphanet:438134 Orphanet:363245 obsolete genetic progeroid syndrome -MONDO:0014399 ataxia-telangiectasia-like disorder 2 MONDO:0035862 Orphanet:438134 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome -MONDO:0014401 tall stature-scoliosis-macrodactyly of the great toes syndrome MONDO:0019711 Orphanet:329191 Orphanet:93454 obsolete dysostosis with predominant vertebral and costal involvement -MONDO:0014401 tall stature-scoliosis-macrodactyly of the great toes syndrome MONDO:0800091 Orphanet:329191 Orphanet:498448 obsolete overgrowth or tall stature syndrome with skeletal involvement -MONDO:0014402 severe neurodegenerative syndrome with lipodystrophy MONDO:0015918 Orphanet:363400 Orphanet:182070 obsolete rare neurodegenerative disease -MONDO:0014405 STING-associated vasculopathy with onset in infancy MONDO:0015118 Orphanet:425120 Orphanet:101944 obsolete rare pulmonary disease -MONDO:0014405 STING-associated vasculopathy with onset in infancy MONDO:0015490 Orphanet:425120 Orphanet:156146 obsolete predominantly small-vessel vasculitis -MONDO:0014405 STING-associated vasculopathy with onset in infancy MONDO:0015510 Orphanet:425120 Orphanet:156610 obsolete rare genetic respiratory disease -MONDO:0014405 STING-associated vasculopathy with onset in infancy MONDO:0015710 Orphanet:425120 Orphanet:169361 obsolete immune dysregulation disease with immunodeficiency -MONDO:0014405 STING-associated vasculopathy with onset in infancy MONDO:0016517 Orphanet:425120 Orphanet:233655 obsolete rare genetic vascular disease -MONDO:0014405 STING-associated vasculopathy with onset in infancy MONDO:0017370 Orphanet:425120 Orphanet:290842 obsolete autoinflammatory syndrome with skin involvement -MONDO:0014405 STING-associated vasculopathy with onset in infancy MONDO:0018782 Orphanet:425120 Orphanet:477647 obsolete type 1 interferonopathy -MONDO:0014412 hyperlipoproteinemia, type 1D MONDO:8000031 Orphanet:535458 Orphanet:557494 obsolete subtype of a disorder -MONDO:0014413 orofaciodigital syndrome type 14 MONDO:0017119 Orphanet:434179 Orphanet:269528 obsolete syndrome with microcephaly as major feature -MONDO:0014413 orofaciodigital syndrome type 14 MONDO:0035863 Orphanet:434179 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0014413 orofaciodigital syndrome type 14 MONDO:8000032 Orphanet:434179 Orphanet:377789 obsolete malformation syndrome -MONDO:0014414 STAT3-related early-onset multisystem autoimmune disease MONDO:0015939 Orphanet:438159 Orphanet:182228 obsolete systemic autoimmune disease -MONDO:0014417 spinocerebellar ataxia type 38 MONDO:0018118 Orphanet:423296 Orphanet:352306 obsolete disorder of phospholipids, sphingolipids and fatty acids biosynthesis with central nervous system predominant involvement -MONDO:0014419 ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome MONDO:0017118 Orphanet:370022 Orphanet:269523 obsolete syndrome with a cerebellar malformation as major feature -MONDO:0014419 ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome MONDO:0020258 Orphanet:370022 Orphanet:98688 obsolete oculomotor apraxia or related oculomotor disease -MONDO:0014419 ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome MONDO:0035862 Orphanet:370022 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome -MONDO:0014421 glucocorticoid resistance MONDO:0019593 Orphanet:786 Orphanet:90776 obsolete 46,XX disorder of sex development induced by fetal androgens excess -MONDO:0014424 obsolete congenital deficiency in alpha-fetoprotein MONDO:0018652 Orphanet:168612 Orphanet:447874 obsolete biological anomaly without phenotypic characterization -MONDO:0014424 obsolete congenital deficiency in alpha-fetoprotein MONDO:0032011 Orphanet:168612 Orphanet:377790 obsolete biological anomaly -MONDO:0014425 obsolete hereditary persistence of alpha-fetoprotein MONDO:0018652 Orphanet:168615 Orphanet:447874 obsolete biological anomaly without phenotypic characterization -MONDO:0014425 obsolete hereditary persistence of alpha-fetoprotein MONDO:0032011 Orphanet:168615 Orphanet:377790 obsolete biological anomaly -MONDO:0014429 autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency MONDO:0017899 Orphanet:319581 Orphanet:319543 obsolete autosomal dominant mendelian susceptibility to mycobacterial diseases due to a partial deficiency -MONDO:0014449 congenital analbuminemia MONDO:0015549 Orphanet:86816 Orphanet:158300 obsolete rare genetic hematologic disease -MONDO:0014452 familial dysfibrinogenemia MONDO:8000031 Orphanet:98881 Orphanet:557494 obsolete subtype of a disorder -MONDO:0014455 cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome MONDO:0016133 Orphanet:436174 Orphanet:207018 obsolete rare hereditary metabolic disease with peripheral neuropathy -MONDO:0014455 cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome MONDO:0018157 Orphanet:436174 Orphanet:35696 obsolete mitochondrial disorder due to a defect in mitochondrial protein synthesis -MONDO:0014455 cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome MONDO:0019058 Orphanet:436174 Orphanet:68385 obsolete neurometabolic disease -MONDO:0014455 cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome MONDO:0019589 Orphanet:436174 Orphanet:90642 obsolete syndromic genetic hearing loss -MONDO:0014455 cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome MONDO:0019590 Orphanet:436174 Orphanet:90692 obsolete rare endocrine growth disease -MONDO:0014455 cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome MONDO:0020225 Orphanet:436174 Orphanet:98641 obsolete syndromic cataract -MONDO:0014460 nail and teeth abnormalities-marginal palmoplantar keratoderma-oral hyperpigmentation syndrome MONDO:0020097 Orphanet:423454 Orphanet:98357 obsolete autosomal recessive disease with focal palmoplantar keratoderma as a major feature -MONDO:0014464 progressive encephalopathy with leukodystrophy due to DECR deficiency MONDO:0018118 Orphanet:431361 Orphanet:352306 obsolete disorder of phospholipids, sphingolipids and fatty acids biosynthesis with central nervous system predominant involvement -MONDO:0014464 progressive encephalopathy with leukodystrophy due to DECR deficiency MONDO:0019058 Orphanet:431361 Orphanet:68385 obsolete neurometabolic disease -MONDO:0014466 Neu-Laxova syndrome 2 MONDO:8000031 Orphanet:583602 Orphanet:557494 obsolete subtype of a disorder -MONDO:0014467 Charcot-Marie-Tooth disease recessive intermediate D MONDO:0016578 Orphanet:435998 Orphanet:2443 obsolete mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies -MONDO:0014471 mitochondrial proton-transporting ATP synthase complex deficiency MONDO:0016805 Orphanet:254913 Orphanet:254846 obsolete isolated oxidative phosphorylation complex disorder -MONDO:0014472 periodic fever-infantile enterocolitis-autoinflammatory syndrome MONDO:0015245 Orphanet:436166 Orphanet:117569 obsolete rare intestinal disease -MONDO:0014472 periodic fever-infantile enterocolitis-autoinflammatory syndrome MONDO:0017370 Orphanet:436166 Orphanet:290842 obsolete autoinflammatory syndrome with skin involvement -MONDO:0014474 autosomal recessive limb-girdle muscular dystrophy type 2U MONDO:0017745 Orphanet:352479 Orphanet:309469 obsolete disorder of O-mannosylglycan synthesis -MONDO:0014474 autosomal recessive limb-girdle muscular dystrophy type 2U MONDO:0018284 Orphanet:352479 Orphanet:371047 obsolete congenital disorder of glycosylation with neurological involvement -MONDO:0014474 autosomal recessive limb-girdle muscular dystrophy type 2U MONDO:0035862 Orphanet:352479 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome -MONDO:0014483 retinal dystrophy with inner retinal dysfunction and ganglion cell anomalies MONDO:0034953 Orphanet:397758 Orphanet:519325 obsolete syndromic inherited retinal disorder -MONDO:0014487 congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome MONDO:0018041 Orphanet:369861 Orphanet:331244 obsolete other immunodeficiency syndrome with predominantly antibody defects -MONDO:0014489 limb-girdle muscular dystrophy due to POMK deficiency MONDO:0017745 Orphanet:445110 Orphanet:309469 obsolete disorder of O-mannosylglycan synthesis -MONDO:0014489 limb-girdle muscular dystrophy due to POMK deficiency MONDO:0019058 Orphanet:445110 Orphanet:68385 obsolete neurometabolic disease -MONDO:0014490 ketoacidosis due to monocarboxylate transporter-1 deficiency MONDO:0018579 Orphanet:438075 Orphanet:438072 obsolete disorder of ketone body transport -MONDO:0014492 wooly hair-palmoplantar keratoderma syndrome MONDO:0018558 Orphanet:420686 Orphanet:434809 obsolete syndrome with wooly hair -MONDO:0014492 wooly hair-palmoplantar keratoderma syndrome MONDO:0020097 Orphanet:420686 Orphanet:98357 obsolete autosomal recessive disease with focal palmoplantar keratoderma as a major feature -MONDO:0014495 retinitis pigmentosa-juvenile cataract-short stature-intellectual disability syndrome MONDO:0020240 Orphanet:436245 Orphanet:98661 obsolete syndromic retinitis pigmentosa -MONDO:0014495 retinitis pigmentosa-juvenile cataract-short stature-intellectual disability syndrome MONDO:0035863 Orphanet:436245 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0014497 polyendocrine-polyneuropathy syndrome MONDO:0015361 Orphanet:453533 Orphanet:140459 obsolete autosomal recessive hereditary demyelinating motor and sensory neuropathy -MONDO:0014497 polyendocrine-polyneuropathy syndrome MONDO:0015778 Orphanet:453533 Orphanet:177107 obsolete syndromic hypothyroidism -MONDO:0014497 polyendocrine-polyneuropathy syndrome MONDO:0015888 Orphanet:453533 Orphanet:181381 obsolete other rare diabetes mellitus -MONDO:0014497 polyendocrine-polyneuropathy syndrome MONDO:0015890 Orphanet:453533 Orphanet:181387 obsolete rare disorder with congenital hypogonadotropic hypogonadism -MONDO:0014497 polyendocrine-polyneuropathy syndrome MONDO:0035862 Orphanet:453533 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome -MONDO:0014498 familial cold autoinflammatory syndrome 4 MONDO:0017370 Orphanet:576349 Orphanet:290842 obsolete autoinflammatory syndrome with skin involvement -MONDO:0014500 atrial conduction disease MONDO:0015110 Orphanet:436242 Orphanet:101934 obsolete genetic cardiac rhythm disease -MONDO:0014502 Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency MONDO:0017897 Orphanet:319563 Orphanet:319535 obsolete autosomal recessive mendelian susceptibility to mycobacterial diseases due to a complete deficiency -MONDO:0014502 Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency MONDO:0018782 Orphanet:319563 Orphanet:477647 obsolete type 1 interferonopathy -MONDO:0014503 autosomal recessive spinocerebellar ataxia 17 MONDO:0035862 Orphanet:453521 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome -MONDO:0014506 hypomyelinating leukodystrophy 9 MONDO:0035862 Orphanet:438114 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome -MONDO:0014507 Catel-Manzke syndrome MONDO:0015335 Orphanet:1388 Orphanet:139039 obsolete Mendelian syndromes with cleft lip/palate -MONDO:0014507 Catel-Manzke syndrome MONDO:0017434 Orphanet:1388 Orphanet:294959 obsolete syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy -MONDO:0014507 Catel-Manzke syndrome MONDO:0035863 Orphanet:1388 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0014507 Catel-Manzke syndrome MONDO:8000032 Orphanet:1388 Orphanet:377789 obsolete malformation syndrome -MONDO:0014510 fatty acyl-CoA reductase 1 deficiency MONDO:0016398 Orphanet:438178 Orphanet:225686 obsolete peroxisomal disease with epilepsy -MONDO:0014510 fatty acyl-CoA reductase 1 deficiency MONDO:0019058 Orphanet:438178 Orphanet:68385 obsolete neurometabolic disease -MONDO:0014510 fatty acyl-CoA reductase 1 deficiency MONDO:0020228 Orphanet:438178 Orphanet:98644 obsolete cataract associated with a metabolic disease -MONDO:0014510 fatty acyl-CoA reductase 1 deficiency MONDO:0035862 Orphanet:438178 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome -MONDO:0014511 Charcot-Marie-Tooth disease axonal type 2S MONDO:0019601 Orphanet:443073 Orphanet:91024 obsolete autosomal recessive axonal hereditary motor and sensory neuropathy -MONDO:0014512 PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation MONDO:0018580 Orphanet:438216 Orphanet:438213 obsolete PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome -MONDO:0014512 PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation MONDO:8000031 Orphanet:438216 Orphanet:557494 obsolete subtype of a disorder -MONDO:0014518 platelet-type bleeding disorder 19 MONDO:0016361 Orphanet:438207 Orphanet:220452 obsolete isolated hereditary giant platelet disorder -MONDO:0014520 46,XX ovarian dysgenesis-short stature syndrome MONDO:0017961 Orphanet:444048 Orphanet:325055 obsolete 46,XX disorder of gonadal development -MONDO:0014520 46,XX ovarian dysgenesis-short stature syndrome MONDO:0018402 Orphanet:444048 Orphanet:399877 obsolete female infertility due to gonadal dysgenesis -MONDO:0014520 46,XX ovarian dysgenesis-short stature syndrome MONDO:0020038 Orphanet:444048 Orphanet:98074 obsolete gonadal dysgenesis of gynecological interest -MONDO:0014520 46,XX ovarian dysgenesis-short stature syndrome MONDO:0034443 Orphanet:444048 Orphanet:485382 obsolete genetic non-acquired premature ovarian failure -MONDO:0014523 juvenile-onset diabetes mellitus-central and peripheral neurodegeneration syndrome MONDO:0015888 Orphanet:445062 Orphanet:181381 obsolete other rare diabetes mellitus -MONDO:0014523 juvenile-onset diabetes mellitus-central and peripheral neurodegeneration syndrome MONDO:0019589 Orphanet:445062 Orphanet:90642 obsolete syndromic genetic hearing loss -MONDO:0014525 combined oxidative phosphorylation defect type 23 MONDO:0016327 Orphanet:444013 Orphanet:217587 obsolete mitochondrial disease with hypertrophic cardiomyopathy -MONDO:0014525 combined oxidative phosphorylation defect type 23 MONDO:0018157 Orphanet:444013 Orphanet:35696 obsolete mitochondrial disorder due to a defect in mitochondrial protein synthesis -MONDO:0014525 combined oxidative phosphorylation defect type 23 MONDO:0019058 Orphanet:444013 Orphanet:68385 obsolete neurometabolic disease -MONDO:0014525 combined oxidative phosphorylation defect type 23 MONDO:0035862 Orphanet:444013 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome -MONDO:0014526 polyglucosan body myopathy type 2 MONDO:0016118 Orphanet:456369 Orphanet:206959 obsolete muscular glycogenosis -MONDO:0014526 polyglucosan body myopathy type 2 MONDO:0019058 Orphanet:456369 Orphanet:68385 obsolete neurometabolic disease -MONDO:0014527 progeroid features-hepatocellular carcinoma predisposition syndrome MONDO:0031689 Orphanet:435953 Orphanet:363245 obsolete genetic progeroid syndrome -MONDO:0014528 chronic atrial and intestinal dysrhythmia MONDO:0015110 Orphanet:435988 Orphanet:101934 obsolete genetic cardiac rhythm disease -MONDO:0014528 chronic atrial and intestinal dysrhythmia MONDO:0015245 Orphanet:435988 Orphanet:117569 obsolete rare intestinal disease -MONDO:0014528 chronic atrial and intestinal dysrhythmia MONDO:0015616 Orphanet:435988 Orphanet:165655 obsolete rare genetic intestinal disease -MONDO:0014529 cerebellar-facial-dental syndrome MONDO:0015603 Orphanet:444072 Orphanet:164001 obsolete rare odontal or periodontal disorder -MONDO:0014529 cerebellar-facial-dental syndrome MONDO:0017118 Orphanet:444072 Orphanet:269523 obsolete syndrome with a cerebellar malformation as major feature -MONDO:0014529 cerebellar-facial-dental syndrome MONDO:0018488 Orphanet:444072 Orphanet:420755 obsolete rare genetic odontal or periodontal disorder -MONDO:0014529 cerebellar-facial-dental syndrome MONDO:0035863 Orphanet:444072 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0014529 cerebellar-facial-dental syndrome MONDO:8000032 Orphanet:444072 Orphanet:377789 obsolete malformation syndrome -MONDO:0014530 autosomal recessive spinocerebellar ataxia 18 MONDO:0035862 Orphanet:363432 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome -MONDO:0014530 autosomal recessive spinocerebellar ataxia 18 MONDO:8000031 Orphanet:363432 Orphanet:557494 obsolete subtype of a disorder -MONDO:0014532 autosomal dominant mitochondrial myopathy with exercise intolerance MONDO:0016799 Orphanet:457050 Orphanet:254822 obsolete mitochondrial oxidative phosphorylation disorder with no known mechanism -MONDO:0014532 autosomal dominant mitochondrial myopathy with exercise intolerance MONDO:0019058 Orphanet:457050 Orphanet:68385 obsolete neurometabolic disease -MONDO:0014541 motor developmental delay due to 14q32.2 paternally expressed gene defect MONDO:0016565 Orphanet:254516 Orphanet:240371 obsolete syndromic genetic obesity -MONDO:0014541 motor developmental delay due to 14q32.2 paternally expressed gene defect MONDO:0035863 Orphanet:254516 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0014541 motor developmental delay due to 14q32.2 paternally expressed gene defect MONDO:8000032 Orphanet:254516 Orphanet:377789 obsolete malformation syndrome -MONDO:0014545 progressive myoclonic epilepsy type 8 MONDO:0018118 Orphanet:424027 Orphanet:352306 obsolete disorder of phospholipids, sphingolipids and fatty acids biosynthesis with central nervous system predominant involvement -MONDO:0014547 combined oxidative phosphorylation defect type 24 MONDO:0018157 Orphanet:444458 Orphanet:35696 obsolete mitochondrial disorder due to a defect in mitochondrial protein synthesis -MONDO:0014552 lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome MONDO:0015620 Orphanet:439897 Orphanet:165707 obsolete syndromic urogenital tract malformation -MONDO:0014552 lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome MONDO:0017118 Orphanet:439897 Orphanet:269523 obsolete syndrome with a cerebellar malformation as major feature -MONDO:0014552 lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome MONDO:0017119 Orphanet:439897 Orphanet:269528 obsolete syndrome with microcephaly as major feature -MONDO:0014552 lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome MONDO:0019721 Orphanet:439897 Orphanet:93547 obsolete syndromic renal or urinary tract malformation -MONDO:0014552 lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome MONDO:0022409 Orphanet:439897 Orphanet:156162 obsolete nephropathy-associated ciliopathy -MONDO:0014552 lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome MONDO:8000032 Orphanet:439897 Orphanet:377789 obsolete malformation syndrome -MONDO:0014555 peeling skin syndrome type A MONDO:8000031 Orphanet:263548 Orphanet:557494 obsolete subtype of a disorder -MONDO:0014556 congenital contractures of the limbs and face, hypotonia, and developmental delay MONDO:0035863 Orphanet:562528 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0014556 congenital contractures of the limbs and face, hypotonia, and developmental delay MONDO:8000032 Orphanet:562528 Orphanet:377789 obsolete malformation syndrome -MONDO:0014557 ataxia - oculomotor apraxia type 4 MONDO:0018265 Orphanet:459033 Orphanet:370106 obsolete rare disorder with dystonia and other neurologic or systemic manifestation -MONDO:0014557 ataxia - oculomotor apraxia type 4 MONDO:0020258 Orphanet:459033 Orphanet:98688 obsolete oculomotor apraxia or related oculomotor disease -MONDO:0014558 autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome MONDO:0015506 Orphanet:457193 Orphanet:156532 obsolete rare syndrome with cardiac malformations -MONDO:0014558 autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome MONDO:0035863 Orphanet:457193 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0014558 autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome MONDO:8000032 Orphanet:457193 Orphanet:377789 obsolete malformation syndrome -MONDO:0014559 progressive essential tremor-speech impairment-facial dysmorphism-intellectual disability-abnormal behavior syndrome MONDO:0017644 Orphanet:457212 Orphanet:306712 obsolete rare tremor disorder -MONDO:0014559 progressive essential tremor-speech impairment-facial dysmorphism-intellectual disability-abnormal behavior syndrome MONDO:0017663 Orphanet:457212 Orphanet:307061 obsolete inherited tremor disorder -MONDO:0014559 progressive essential tremor-speech impairment-facial dysmorphism-intellectual disability-abnormal behavior syndrome MONDO:0035863 Orphanet:457212 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0014561 3-methylglutaconic aciduria, type VIIB MONDO:0019058 Orphanet:445038 Orphanet:68385 obsolete neurometabolic disease -MONDO:0014561 3-methylglutaconic aciduria, type VIIB MONDO:0020228 Orphanet:445038 Orphanet:98644 obsolete cataract associated with a metabolic disease -MONDO:0014561 3-methylglutaconic aciduria, type VIIB MONDO:0035862 Orphanet:445038 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome -MONDO:0014562 neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome MONDO:0016327 Orphanet:457185 Orphanet:217587 obsolete mitochondrial disease with hypertrophic cardiomyopathy -MONDO:0014567 glutamate pyruvate transaminase 2 deficiency MONDO:0015089 Orphanet:477673 Orphanet:100981 obsolete autosomal recessive complex spastic paraplegia -MONDO:0014567 glutamate pyruvate transaminase 2 deficiency MONDO:0035862 Orphanet:477673 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome -MONDO:0014568 hereditary spastic paraplegia 73 MONDO:0015088 Orphanet:444099 Orphanet:100980 obsolete autosomal dominant pure spastic paraplegia -MONDO:0014572 Lichtenstein-Knorr syndrome MONDO:0019589 Orphanet:448251 Orphanet:90642 obsolete syndromic genetic hearing loss -MONDO:0014574 peeling skin-leukonuchia-acral punctate keratoses-cheilitis-knuckle pads syndrome MONDO:0016518 Orphanet:444138 Orphanet:2338 obsolete isolated punctate palmoplantar keratoderma -MONDO:0014574 peeling skin-leukonuchia-acral punctate keratoses-cheilitis-knuckle pads syndrome MONDO:0017262 Orphanet:444138 Orphanet:281082 obsolete inherited non-syndromic ichthyosis -MONDO:0014601 autosomal recessive spinocerebellar ataxia 20 MONDO:0017118 Orphanet:397709 Orphanet:269523 obsolete syndrome with a cerebellar malformation as major feature -MONDO:0014601 autosomal recessive spinocerebellar ataxia 20 MONDO:0035863 Orphanet:397709 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0014601 autosomal recessive spinocerebellar ataxia 20 MONDO:8000032 Orphanet:397709 Orphanet:377789 obsolete malformation syndrome -MONDO:0014602 intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome MONDO:0035863 Orphanet:457279 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0014602 intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome MONDO:8000032 Orphanet:457279 Orphanet:377789 obsolete malformation syndrome -MONDO:0014605 microcephaly-corpus callosum hypoplasia-intellectual disability-facial dysmorphism syndrome MONDO:0016055 Orphanet:457284 Orphanet:199639 obsolete syndrome with corpus callosum agenesis /dysgenesis as a major feature -MONDO:0014605 microcephaly-corpus callosum hypoplasia-intellectual disability-facial dysmorphism syndrome MONDO:0035863 Orphanet:457284 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0014605 microcephaly-corpus callosum hypoplasia-intellectual disability-facial dysmorphism syndrome MONDO:8000032 Orphanet:457284 Orphanet:377789 obsolete malformation syndrome -MONDO:0014606 intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome MONDO:0035863 Orphanet:468678 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0014608 mandibulofacial dysostosis with alopecia MONDO:0019589 Orphanet:443995 Orphanet:90642 obsolete syndromic genetic hearing loss -MONDO:0014608 mandibulofacial dysostosis with alopecia MONDO:0021034 Orphanet:443995 Orphanet:481771 obsolete hereditary alopecia -MONDO:0014608 mandibulofacial dysostosis with alopecia MONDO:8000032 Orphanet:443995 Orphanet:377789 obsolete malformation syndrome -MONDO:0014609 cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome MONDO:0015329 Orphanet:444077 Orphanet:139021 obsolete malformation syndrome with short stature -MONDO:0014609 cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome MONDO:0015506 Orphanet:444077 Orphanet:156532 obsolete rare syndrome with cardiac malformations -MONDO:0014609 cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome MONDO:0016565 Orphanet:444077 Orphanet:240371 obsolete syndromic genetic obesity -MONDO:0014609 cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome MONDO:0026187 Orphanet:444077 Orphanet:183570 obsolete genetic malformation syndrome with short stature -MONDO:0014609 cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome MONDO:0035863 Orphanet:444077 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0014609 cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome MONDO:0800094 Orphanet:444077 Orphanet:498454 obsolete dysostosis with brachydactyly with extraskeletal manifestations -MONDO:0014609 cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome MONDO:8000032 Orphanet:444077 Orphanet:377789 obsolete malformation syndrome -MONDO:0014611 multiple mitochondrial dysfunctions syndrome 4 MONDO:0015918 Orphanet:457406 Orphanet:182070 obsolete rare neurodegenerative disease -MONDO:0014611 multiple mitochondrial dysfunctions syndrome 4 MONDO:0018609 Orphanet:457406 Orphanet:441434 obsolete syndromic hereditary optic neuropathy -MONDO:0014622 isolated focal non-epidermolytic palmoplantar keratoderma MONDO:0017673 Orphanet:448264 Orphanet:307846 obsolete isolated focal palmoplantar keratoderma -MONDO:0014629 autoimmune interstitial lung disease-arthritis syndrome MONDO:0015939 Orphanet:444092 Orphanet:182228 obsolete systemic autoimmune disease -MONDO:0014629 autoimmune interstitial lung disease-arthritis syndrome MONDO:0017020 Orphanet:444092 Orphanet:264699 obsolete secondary interstitial lung disease specific to childhood associated with a systemic disease -MONDO:0014629 autoimmune interstitial lung disease-arthritis syndrome MONDO:0028569 Orphanet:444092 Orphanet:264992 obsolete genetic interstitial lung disease -MONDO:0014629 autoimmune interstitial lung disease-arthritis syndrome MONDO:0028795 Orphanet:444092 Orphanet:271870 obsolete rare genetic systemic or rheumatologic disease -MONDO:0014630 familial adenomatous polyposis 3 MONDO:8000031 Orphanet:454840 Orphanet:557494 obsolete subtype of a disorder -MONDO:0014636 combined oxidative phosphorylation defect type 25 MONDO:0018157 Orphanet:447954 Orphanet:35696 obsolete mitochondrial disorder due to a defect in mitochondrial protein synthesis -MONDO:0014636 combined oxidative phosphorylation defect type 25 MONDO:0019058 Orphanet:447954 Orphanet:68385 obsolete neurometabolic disease -MONDO:0014636 combined oxidative phosphorylation defect type 25 MONDO:0019589 Orphanet:447954 Orphanet:90642 obsolete syndromic genetic hearing loss -MONDO:0014643 congenital cataract-microcephaly-nevus flammeus simplex-severe intellectual disability syndrome MONDO:0020225 Orphanet:464738 Orphanet:98641 obsolete syndromic cataract -MONDO:0014643 congenital cataract-microcephaly-nevus flammeus simplex-severe intellectual disability syndrome MONDO:0035863 Orphanet:464738 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0014643 congenital cataract-microcephaly-nevus flammeus simplex-severe intellectual disability syndrome MONDO:8000032 Orphanet:464738 Orphanet:377789 obsolete malformation syndrome -MONDO:0014644 hereditary spastic paraplegia 74 MONDO:0018550 Orphanet:468661 Orphanet:431320 obsolete spastic paraplegia-optic atrophy-neuropathy and spastic paraplegia-optic atrophy-neuropathy-related disorder -MONDO:0014658 severe achondroplasia-developmental delay-acanthosis nigricans syndrome MONDO:0018232 Orphanet:85165 Orphanet:364536 obsolete primary bone dysplasia with micromelia -MONDO:0014658 severe achondroplasia-developmental delay-acanthosis nigricans syndrome MONDO:0019274 Orphanet:85165 Orphanet:79359 obsolete other epidermal disorder -MONDO:0014658 severe achondroplasia-developmental delay-acanthosis nigricans syndrome MONDO:0019275 Orphanet:85165 Orphanet:79360 obsolete other genetic epidermal disease -MONDO:0014662 congenital insensitivity to pain-hypohidrosis syndrome MONDO:0015366 Orphanet:478664 Orphanet:140477 obsolete autosomal recessive hereditary sensory and autonomic neuropathy -MONDO:0014684 combined oxidative phosphorylation defect type 26 MONDO:0018157 Orphanet:477684 Orphanet:35696 obsolete mitochondrial disorder due to a defect in mitochondrial protein synthesis -MONDO:0014689 Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome MONDO:0019711 Orphanet:447974 Orphanet:93454 obsolete dysostosis with predominant vertebral and costal involvement -MONDO:0014689 Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome MONDO:8000032 Orphanet:447974 Orphanet:377789 obsolete malformation syndrome -MONDO:0014698 microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome MONDO:0019589 Orphanet:457351 Orphanet:90642 obsolete syndromic genetic hearing loss -MONDO:0014698 microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome MONDO:0034962 Orphanet:457351 Orphanet:519343 obsolete rare ophthalmic disorder with cortical involvement -MONDO:0014698 microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome MONDO:0035862 Orphanet:457351 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome -MONDO:0014698 microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome MONDO:8000032 Orphanet:457351 Orphanet:377789 obsolete malformation syndrome -MONDO:0014700 Au-Kline syndrome MONDO:8000031 Orphanet:453504 Orphanet:557494 obsolete subtype of a disorder -MONDO:0014702 autosomal recessive complex spastic paraplegia type 9B MONDO:0015089 Orphanet:447760 Orphanet:100981 obsolete autosomal recessive complex spastic paraplegia -MONDO:0014702 autosomal recessive complex spastic paraplegia type 9B MONDO:0035862 Orphanet:447760 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome -MONDO:0014704 skeletal overgrowth-craniofacial dysmorphism-hyperelastic skin-white matter lesions syndrome MONDO:0800091 Orphanet:477831 Orphanet:498448 obsolete overgrowth or tall stature syndrome with skeletal involvement -MONDO:0014704 skeletal overgrowth-craniofacial dysmorphism-hyperelastic skin-white matter lesions syndrome MONDO:8000032 Orphanet:477831 Orphanet:377789 obsolete malformation syndrome -MONDO:0014708 ring chromosome 14 MONDO:0015652 Orphanet:1440 Orphanet:166469 obsolete chromosomal anomaly with epilepsy as a major feature -MONDO:0014708 ring chromosome 14 MONDO:0018186 Orphanet:1440 Orphanet:363203 obsolete ring chromosome -MONDO:0014708 ring chromosome 14 MONDO:8000032 Orphanet:1440 Orphanet:377789 obsolete malformation syndrome -MONDO:0014710 autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency MONDO:0017897 Orphanet:477857 Orphanet:319535 obsolete autosomal recessive mendelian susceptibility to mycobacterial diseases due to a complete deficiency -MONDO:0014714 progressive microcephaly-seizures-cortical blindness-developmental delay syndrome MONDO:0017119 Orphanet:477814 Orphanet:269528 obsolete syndrome with microcephaly as major feature -MONDO:0014714 progressive microcephaly-seizures-cortical blindness-developmental delay syndrome MONDO:0034962 Orphanet:477814 Orphanet:519343 obsolete rare ophthalmic disorder with cortical involvement -MONDO:0014714 progressive microcephaly-seizures-cortical blindness-developmental delay syndrome MONDO:0035862 Orphanet:477814 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome -MONDO:0014714 progressive microcephaly-seizures-cortical blindness-developmental delay syndrome MONDO:8000032 Orphanet:477814 Orphanet:377789 obsolete malformation syndrome -MONDO:0014715 primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection MONDO:0018545 Orphanet:431166 Orphanet:431156 obsolete primary immunodeficiency with predisposition to severe viral infection -MONDO:0014716 macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome MONDO:0035863 Orphanet:457485 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0014716 macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome MONDO:8000032 Orphanet:457485 Orphanet:377789 obsolete malformation syndrome -MONDO:0014719 developmental and epileptic encephalopathy, 35 MONDO:0015918 Orphanet:457375 Orphanet:182070 obsolete rare neurodegenerative disease -MONDO:0014719 developmental and epileptic encephalopathy, 35 MONDO:0016406 Orphanet:457375 Orphanet:225713 obsolete other metabolic disease with epilepsy -MONDO:0014719 developmental and epileptic encephalopathy, 35 MONDO:0019058 Orphanet:457375 Orphanet:68385 obsolete neurometabolic disease -MONDO:0014720 autosomal dominant optic atrophy plus syndrome MONDO:0015360 Orphanet:1215 Orphanet:140456 obsolete autosomal dominant hereditary axonal motor and sensory neuropathy -MONDO:0014720 autosomal dominant optic atrophy plus syndrome MONDO:0016797 Orphanet:1215 Orphanet:254807 obsolete multiple mitochondrial DNA deletion syndrome -MONDO:0014722 Roifman syndrome MONDO:0035863 Orphanet:353298 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0014723 PMP22-RAI1 contiguous gene duplication syndrome MONDO:0015359 Orphanet:477817 Orphanet:140453 obsolete autosomal dominant hereditary demyelinating motor and sensory neuropathy -MONDO:0014723 PMP22-RAI1 contiguous gene duplication syndrome MONDO:0035863 Orphanet:477817 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0014723 PMP22-RAI1 contiguous gene duplication syndrome MONDO:8000032 Orphanet:477817 Orphanet:377789 obsolete malformation syndrome -MONDO:0014725 spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome MONDO:0035862 Orphanet:447997 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome -MONDO:0014726 Charcot-Marie-Tooth disease axonal type 2X MONDO:0019601 Orphanet:466775 Orphanet:91024 obsolete autosomal recessive axonal hereditary motor and sensory neuropathy -MONDO:0014728 combined oxidative phosphorylation defect type 27 MONDO:0018157 Orphanet:477774 Orphanet:35696 obsolete mitochondrial disorder due to a defect in mitochondrial protein synthesis -MONDO:0014728 combined oxidative phosphorylation defect type 27 MONDO:0019058 Orphanet:477774 Orphanet:68385 obsolete neurometabolic disease -MONDO:0014728 combined oxidative phosphorylation defect type 27 MONDO:0035862 Orphanet:477774 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome -MONDO:0014729 hereditary spastic paraplegia 75 MONDO:0015089 Orphanet:459056 Orphanet:100981 obsolete autosomal recessive complex spastic paraplegia -MONDO:0014729 hereditary spastic paraplegia 75 MONDO:0035862 Orphanet:459056 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome -MONDO:0014731 seizures-scoliosis-macrocephaly syndrome MONDO:0017742 Orphanet:466926 Orphanet:309450 obsolete disorder of O-xylosylglycan synthesis -MONDO:0014731 seizures-scoliosis-macrocephaly syndrome MONDO:0018287 Orphanet:466926 Orphanet:371071 obsolete congenital disorder of glycosylation with epilepsy as a major feature -MONDO:0014731 seizures-scoliosis-macrocephaly syndrome MONDO:0035862 Orphanet:466926 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome -MONDO:0014732 hypomyelinating leukodystrophy 12 MONDO:0035862 Orphanet:466934 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome -MONDO:0014733 Charcot-Marie-Tooth disease type 4K MONDO:0016578 Orphanet:391351 Orphanet:2443 obsolete mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies -MONDO:0014741 DeSanto-Shinawi syndrome due to WAC point mutation MONDO:8000031 Orphanet:466950 Orphanet:557494 obsolete subtype of a disorder -MONDO:0014743 rhizomelic chondrodysplasia punctata type 5 MONDO:8000031 Orphanet:468717 Orphanet:557494 obsolete subtype of a disorder -MONDO:0014744 acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome MONDO:0015114 Orphanet:466794 Orphanet:101939 obsolete rare parenchymal liver disease -MONDO:0014744 acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome MONDO:0015508 Orphanet:466794 Orphanet:156604 obsolete hereditary parenchymatous liver disease -MONDO:0014744 acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome MONDO:0019601 Orphanet:466794 Orphanet:91024 obsolete autosomal recessive axonal hereditary motor and sensory neuropathy -MONDO:0014744 acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome MONDO:0035862 Orphanet:466794 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome -MONDO:0014746 SLC39A8-CDG MONDO:0017118 Orphanet:468699 Orphanet:269523 obsolete syndrome with a cerebellar malformation as major feature -MONDO:0014746 SLC39A8-CDG MONDO:0035863 Orphanet:468699 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0014748 progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome MONDO:0015329 Orphanet:457395 Orphanet:139021 obsolete malformation syndrome with short stature -MONDO:0014748 progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome MONDO:0026187 Orphanet:457395 Orphanet:183570 obsolete genetic malformation syndrome with short stature -MONDO:0014748 progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome MONDO:0035863 Orphanet:457395 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0014748 progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome MONDO:8000032 Orphanet:457395 Orphanet:377789 obsolete malformation syndrome -MONDO:0014751 palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome MONDO:0015335 Orphanet:477993 Orphanet:139039 obsolete Mendelian syndromes with cleft lip/palate -MONDO:0014751 palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome MONDO:0026190 Orphanet:477993 Orphanet:183580 obsolete genetic malformation syndrome with odontal and/or periodontal component -MONDO:0014751 palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome MONDO:0035863 Orphanet:477993 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0014751 palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome MONDO:8000032 Orphanet:477993 Orphanet:377789 obsolete malformation syndrome MONDO:0014753 obsolete autosomal recessive optic atrophy MONDO:0000001 Orphanet:98676 Orphanet:377788 disease -MONDO:0014753 obsolete autosomal recessive optic atrophy MONDO:0020249 Orphanet:98676 Orphanet:98671 hereditary optic neuropathy -MONDO:0014757 macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome MONDO:0035471 Orphanet:487796 Orphanet:568047 obsolete disorder with multisystemic involvement and primary lymphedema -MONDO:0014757 macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome MONDO:0035863 Orphanet:487796 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0014757 macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome MONDO:8000032 Orphanet:487796 Orphanet:377789 obsolete malformation syndrome -MONDO:0014764 spastic paraplegia-severe developmental delay-epilepsy syndrome MONDO:0015089 Orphanet:464282 Orphanet:100981 obsolete autosomal recessive complex spastic paraplegia -MONDO:0014764 spastic paraplegia-severe developmental delay-epilepsy syndrome MONDO:0035863 Orphanet:464282 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0014773 cardiac anomalies - developmental delay - facial dysmorphism syndrome MONDO:0015506 Orphanet:369891 Orphanet:156532 obsolete rare syndrome with cardiac malformations -MONDO:0014773 cardiac anomalies - developmental delay - facial dysmorphism syndrome MONDO:0017131 Orphanet:369891 Orphanet:271853 obsolete hereditary cardiac anomaly -MONDO:0014773 cardiac anomalies - developmental delay - facial dysmorphism syndrome MONDO:0035863 Orphanet:369891 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0014773 cardiac anomalies - developmental delay - facial dysmorphism syndrome MONDO:8000032 Orphanet:369891 Orphanet:377789 obsolete malformation syndrome -MONDO:0014775 combined oxidative phosphorylation deficiency 28 MONDO:0018157 Orphanet:466784 Orphanet:35696 obsolete mitochondrial disorder due to a defect in mitochondrial protein synthesis -MONDO:0014778 Lamb-Shaffer syndrome MONDO:0035863 Orphanet:530983 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0014781 combined oxidative phosphorylation deficiency 29 MONDO:0015918 Orphanet:478029 Orphanet:182070 obsolete rare neurodegenerative disease -MONDO:0014781 combined oxidative phosphorylation deficiency 29 MONDO:0018157 Orphanet:478029 Orphanet:35696 obsolete mitochondrial disorder due to a defect in mitochondrial protein synthesis -MONDO:0014782 autosomal recessive limb-girdle muscular dystrophy type 2X MONDO:0015110 Orphanet:476084 Orphanet:101934 obsolete genetic cardiac rhythm disease -MONDO:0014784 severe hypotonia-psychomotor developmental delay-strabismus-cardiac septal defect syndrome MONDO:0015506 Orphanet:467176 Orphanet:156532 obsolete rare syndrome with cardiac malformations -MONDO:0014784 severe hypotonia-psychomotor developmental delay-strabismus-cardiac septal defect syndrome MONDO:0020253 Orphanet:467176 Orphanet:98683 obsolete syndrome with a symptomatic strabismus -MONDO:0014787 severe intellectual disability-corpus callosum agenesis-facial dysmorphism-cerebellar ataxia syndrome MONDO:0016055 Orphanet:466688 Orphanet:199639 obsolete syndrome with corpus callosum agenesis /dysgenesis as a major feature -MONDO:0014787 severe intellectual disability-corpus callosum agenesis-facial dysmorphism-cerebellar ataxia syndrome MONDO:0017118 Orphanet:466688 Orphanet:269523 obsolete syndrome with a cerebellar malformation as major feature -MONDO:0014787 severe intellectual disability-corpus callosum agenesis-facial dysmorphism-cerebellar ataxia syndrome MONDO:0017122 Orphanet:466688 Orphanet:269573 obsolete genetic syndrome with corpus callosum agenesis/dysgenesis as a major feature -MONDO:0014787 severe intellectual disability-corpus callosum agenesis-facial dysmorphism-cerebellar ataxia syndrome MONDO:0035863 Orphanet:466688 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0014787 severe intellectual disability-corpus callosum agenesis-facial dysmorphism-cerebellar ataxia syndrome MONDO:8000032 Orphanet:466688 Orphanet:377789 obsolete malformation syndrome -MONDO:0014789 CCDC115-CDG MONDO:0018799 Orphanet:468684 Orphanet:477811 obsolete rare hypercholesterolemia -MONDO:0014790 TMEM199-CDG MONDO:0018799 Orphanet:466703 Orphanet:477811 obsolete rare hypercholesterolemia -MONDO:0014791 Luscan-Lumish syndrome MONDO:0035863 Orphanet:597738 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0014791 Luscan-Lumish syndrome MONDO:0800091 Orphanet:597738 Orphanet:498448 obsolete overgrowth or tall stature syndrome with skeletal involvement -MONDO:0014791 Luscan-Lumish syndrome MONDO:8000032 Orphanet:597738 Orphanet:377789 obsolete malformation syndrome -MONDO:0014793 microcephaly-congenital cataract-psoriasiform dermatitis syndrome MONDO:0015946 Orphanet:488168 Orphanet:183426 obsolete rare genetic epidermal disorder -MONDO:0014793 microcephaly-congenital cataract-psoriasiform dermatitis syndrome MONDO:0019274 Orphanet:488168 Orphanet:79359 obsolete other epidermal disorder -MONDO:0014793 microcephaly-congenital cataract-psoriasiform dermatitis syndrome MONDO:0020225 Orphanet:488168 Orphanet:98641 obsolete syndromic cataract -MONDO:0014793 microcephaly-congenital cataract-psoriasiform dermatitis syndrome MONDO:8000032 Orphanet:488168 Orphanet:377789 obsolete malformation syndrome -MONDO:0014801 even-plus syndrome MONDO:0015246 Orphanet:496751 Orphanet:117573 obsolete syndromic anorectal malformation -MONDO:0014801 even-plus syndrome MONDO:0043008 Orphanet:496751 Orphanet:330206 obsolete genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability -MONDO:0014801 even-plus syndrome MONDO:8000032 Orphanet:496751 Orphanet:377789 obsolete malformation syndrome -MONDO:0014803 spasticity-ataxia-gait anomalies syndrome MONDO:0019058 Orphanet:401866 Orphanet:68385 obsolete neurometabolic disease -MONDO:0014805 Hao-Fountain syndrome MONDO:0035862 Orphanet:643549 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome -MONDO:0014810 pancytopenia due to IKZF1 mutations MONDO:0018035 Orphanet:317473 Orphanet:331217 obsolete syndrome with combined immunodeficiency -MONDO:0014816 split-foot malformation-mesoaxial polydactyly syndrome MONDO:0017432 Orphanet:488232 Orphanet:294955 obsolete syndrome with limb reduction defects -MONDO:0014816 split-foot malformation-mesoaxial polydactyly syndrome MONDO:0017434 Orphanet:488232 Orphanet:294959 obsolete syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy -MONDO:0014816 split-foot malformation-mesoaxial polydactyly syndrome MONDO:0019285 Orphanet:488232 Orphanet:79370 obsolete syndromic nail anomaly -MONDO:0014816 split-foot malformation-mesoaxial polydactyly syndrome MONDO:0019589 Orphanet:488232 Orphanet:90642 obsolete syndromic genetic hearing loss -MONDO:0014816 split-foot malformation-mesoaxial polydactyly syndrome MONDO:0043008 Orphanet:488232 Orphanet:330206 obsolete genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability -MONDO:0014816 split-foot malformation-mesoaxial polydactyly syndrome MONDO:8000032 Orphanet:488232 Orphanet:377789 obsolete malformation syndrome -MONDO:0014821 complex lethal osteochondrodysplasia MONDO:0019704 Orphanet:457378 Orphanet:93446 obsolete primary bone dysplasia with decreased bone density -MONDO:0014821 complex lethal osteochondrodysplasia MONDO:8000032 Orphanet:457378 Orphanet:377789 obsolete malformation syndrome -MONDO:0014822 15q14 microdeletion syndrome MONDO:8000032 Orphanet:261190 Orphanet:377789 obsolete malformation syndrome -MONDO:0014823 hypotonia, infantile, with psychomotor retardation and characteristic facies 3 MONDO:0035863 Orphanet:488632 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0014823 hypotonia, infantile, with psychomotor retardation and characteristic facies 3 MONDO:8000032 Orphanet:488632 Orphanet:377789 obsolete malformation syndrome -MONDO:0014827 autosomal recessive spastic paraplegia type 76 MONDO:0015089 Orphanet:488594 Orphanet:100981 obsolete autosomal recessive complex spastic paraplegia -MONDO:0014830 platelet-type bleeding disorder 20 MONDO:0018796 Orphanet:466806 Orphanet:477797 obsolete isolated constitutional thrombocytopenia -MONDO:0014831 progeroid and marfanoid aspect-lipodystrophy syndrome MONDO:0028795 Orphanet:300382 Orphanet:271870 obsolete rare genetic systemic or rheumatologic disease -MONDO:0014832 intellectual disability, autosomal recessive 53 MONDO:0018287 Orphanet:488635 Orphanet:371071 obsolete congenital disorder of glycosylation with epilepsy as a major feature -MONDO:0014832 intellectual disability, autosomal recessive 53 MONDO:0035862 Orphanet:488635 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome -MONDO:0014848 TELO2-related intellectual disability-neurodevelopmental disorder MONDO:0034962 Orphanet:488642 Orphanet:519343 obsolete rare ophthalmic disorder with cortical involvement -MONDO:0014848 TELO2-related intellectual disability-neurodevelopmental disorder MONDO:0035863 Orphanet:488642 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0014848 TELO2-related intellectual disability-neurodevelopmental disorder MONDO:8000032 Orphanet:488642 Orphanet:377789 obsolete malformation syndrome -MONDO:0014856 combined oxidative phosphorylation defect type 30 MONDO:0018157 Orphanet:478042 Orphanet:35696 obsolete mitochondrial disorder due to a defect in mitochondrial protein synthesis -MONDO:0014856 combined oxidative phosphorylation defect type 30 MONDO:0019058 Orphanet:478042 Orphanet:68385 obsolete neurometabolic disease -MONDO:0014857 neurodevelopmental disorder with or without anomalies of the brain, eye, or heart MONDO:0035863 Orphanet:494344 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0014857 neurodevelopmental disorder with or without anomalies of the brain, eye, or heart MONDO:8000032 Orphanet:494344 Orphanet:377789 obsolete malformation syndrome -MONDO:0014864 hypermanganesemia with dystonia 2 MONDO:0018329 Orphanet:521406 Orphanet:391711 obsolete persistent combined dystonia -MONDO:0014864 hypermanganesemia with dystonia 2 MONDO:0035862 Orphanet:521406 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome -MONDO:0014866 Charcot-Marie-Tooth disease axonal type 2T MONDO:0019601 Orphanet:443950 Orphanet:91024 obsolete autosomal recessive axonal hereditary motor and sensory neuropathy -MONDO:0014869 hydrops-lactic acidosis-sideroblastic anemia-multisystemic failure syndrome MONDO:0018157 Orphanet:528091 Orphanet:35696 obsolete mitochondrial disorder due to a defect in mitochondrial protein synthesis -MONDO:0014870 NEK9-related lethal skeletal dysplasia MONDO:8000032 Orphanet:464366 Orphanet:377789 obsolete malformation syndrome -MONDO:0014873 nevus comedonicus syndrome MONDO:0017414 Orphanet:64754 Orphanet:294057 obsolete rare nevus -MONDO:0014877 myopathy, distal, 5 MONDO:0016109 Orphanet:482601 Orphanet:206653 obsolete autosomal recessive distal myopathy -MONDO:0014881 transketolase deficiency MONDO:0015329 Orphanet:488618 Orphanet:139021 obsolete malformation syndrome with short stature -MONDO:0014881 transketolase deficiency MONDO:0015506 Orphanet:488618 Orphanet:156532 obsolete rare syndrome with cardiac malformations -MONDO:0014881 transketolase deficiency MONDO:0026187 Orphanet:488618 Orphanet:183570 obsolete genetic malformation syndrome with short stature -MONDO:0014881 transketolase deficiency MONDO:0035863 Orphanet:488618 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0014881 transketolase deficiency MONDO:8000032 Orphanet:488618 Orphanet:377789 obsolete malformation syndrome -MONDO:0014882 hereditary spastic paraplegia 77 MONDO:0017915 Orphanet:466722 Orphanet:320346 obsolete pure or complex autosomal recessive spastic paraplegia -MONDO:0014882 hereditary spastic paraplegia 77 MONDO:0018157 Orphanet:466722 Orphanet:35696 obsolete mitochondrial disorder due to a defect in mitochondrial protein synthesis -MONDO:0014882 hereditary spastic paraplegia 77 MONDO:0019058 Orphanet:466722 Orphanet:68385 obsolete neurometabolic disease -MONDO:0014884 cholestasis, progressive familial intrahepatic, 5 MONDO:8000031 Orphanet:480476 Orphanet:557494 obsolete subtype of a disorder -MONDO:0014886 severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome MONDO:0035863 Orphanet:488627 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0014886 severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome MONDO:8000032 Orphanet:488627 Orphanet:377789 obsolete malformation syndrome -MONDO:0014888 MIRAGE syndrome MONDO:0019590 Orphanet:494433 Orphanet:90692 obsolete rare endocrine growth disease -MONDO:0014888 MIRAGE syndrome MONDO:0020042 Orphanet:494433 Orphanet:98087 obsolete syndrome with 46,XY disorder of sex development -MONDO:0014888 MIRAGE syndrome MONDO:0035683 Orphanet:494433 Orphanet:595337 obsolete adrenal hypoplasia congenita -MONDO:0014888 MIRAGE syndrome MONDO:0035862 Orphanet:494433 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome -MONDO:0014889 striatonigral degeneration, childhood-onset MONDO:0015918 Orphanet:497906 Orphanet:182070 obsolete rare neurodegenerative disease -MONDO:0014889 striatonigral degeneration, childhood-onset MONDO:0018265 Orphanet:497906 Orphanet:370106 obsolete rare disorder with dystonia and other neurologic or systemic manifestation -MONDO:0014890 PERCHING syndrome MONDO:0034953 Orphanet:603684 Orphanet:519325 obsolete syndromic inherited retinal disorder -MONDO:0014890 PERCHING syndrome MONDO:0035863 Orphanet:603684 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0014890 PERCHING syndrome MONDO:8000032 Orphanet:603684 Orphanet:377789 obsolete malformation syndrome -MONDO:0014892 micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome MONDO:0035863 Orphanet:476126 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0014892 micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome MONDO:8000032 Orphanet:476126 Orphanet:377789 obsolete malformation syndrome -MONDO:0014896 congenital muscular dystrophy-respiratory failure-skin abnormalities-joint hyperlaxity syndrome MONDO:0035862 Orphanet:486815 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome -MONDO:0014899 progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4 MONDO:0016797 Orphanet:329314 Orphanet:254807 obsolete multiple mitochondrial DNA deletion syndrome -MONDO:0014900 autosomal recessive limb-girdle muscular dystrophy type 2Y MONDO:0018529 Orphanet:424261 Orphanet:424925 obsolete qualitative or quantitative defects of Torsin-1A-interacting protein 1 -MONDO:0014905 encephalopathy due to defective mitochondrial and peroxisomal fission 2 MONDO:8000031 Orphanet:485421 Orphanet:557494 obsolete subtype of a disorder -MONDO:0014911 growth retardation, intellectual developmental disorder, hypotonia, and hepatopathy MONDO:0015114 Orphanet:541423 Orphanet:101939 obsolete rare parenchymal liver disease -MONDO:0014911 growth retardation, intellectual developmental disorder, hypotonia, and hepatopathy MONDO:0015508 Orphanet:541423 Orphanet:156604 obsolete hereditary parenchymatous liver disease -MONDO:0014911 growth retardation, intellectual developmental disorder, hypotonia, and hepatopathy MONDO:0035862 Orphanet:541423 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome -MONDO:0014918 tall stature-intellectual disability-renal anomalies syndrome MONDO:0019721 Orphanet:500095 Orphanet:93547 obsolete syndromic renal or urinary tract malformation -MONDO:0014918 tall stature-intellectual disability-renal anomalies syndrome MONDO:0035863 Orphanet:500095 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0014918 tall stature-intellectual disability-renal anomalies syndrome MONDO:8000032 Orphanet:500095 Orphanet:377789 obsolete malformation syndrome -MONDO:0014920 patterned macular dystrophy 3 MONDO:0034953 Orphanet:466718 Orphanet:519325 obsolete syndromic inherited retinal disorder -MONDO:0014936 ZTTK syndrome MONDO:0017120 Orphanet:500150 Orphanet:269531 obsolete other syndrome with a central nervous system malformation as major feature -MONDO:0014936 ZTTK syndrome MONDO:0035863 Orphanet:500150 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0014936 ZTTK syndrome MONDO:8000032 Orphanet:500150 Orphanet:377789 obsolete malformation syndrome -MONDO:0014944 short stature-brachydactyly-obesity-global developmental delay syndrome MONDO:0016565 Orphanet:464288 Orphanet:240371 obsolete syndromic genetic obesity -MONDO:0014944 short stature-brachydactyly-obesity-global developmental delay syndrome MONDO:0035863 Orphanet:464288 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0014944 short stature-brachydactyly-obesity-global developmental delay syndrome MONDO:8000032 Orphanet:464288 Orphanet:377789 obsolete malformation syndrome -MONDO:0014952 intellectual disability-epilepsy-extrapyramidal syndrome MONDO:0035862 Orphanet:468620 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome -MONDO:0014953 gnb5-related intellectual disability-cardiac arrhythmia syndrome MONDO:0015110 Orphanet:542306 Orphanet:101934 obsolete genetic cardiac rhythm disease -MONDO:0014953 gnb5-related intellectual disability-cardiac arrhythmia syndrome MONDO:0035862 Orphanet:542306 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome -MONDO:0014958 Harel-Yoon syndrome MONDO:0016133 Orphanet:496790 Orphanet:207018 obsolete rare hereditary metabolic disease with peripheral neuropathy -MONDO:0014958 Harel-Yoon syndrome MONDO:0016327 Orphanet:496790 Orphanet:217587 obsolete mitochondrial disease with hypertrophic cardiomyopathy -MONDO:0014958 Harel-Yoon syndrome MONDO:0016803 Orphanet:496790 Orphanet:254837 obsolete unspecified inborn mitochondrial disorder -MONDO:0014958 Harel-Yoon syndrome MONDO:0018609 Orphanet:496790 Orphanet:441434 obsolete syndromic hereditary optic neuropathy -MONDO:0014958 Harel-Yoon syndrome MONDO:0035862 Orphanet:496790 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome -MONDO:0014975 autosomal recessive spastic paraplegia type 78 MONDO:0015089 Orphanet:513436 Orphanet:100981 obsolete autosomal recessive complex spastic paraplegia -MONDO:0014976 lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome MONDO:0016343 Orphanet:478049 Orphanet:217678 obsolete unclassified cardiomyopathy -MONDO:0014976 lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome MONDO:0016578 Orphanet:478049 Orphanet:2443 obsolete mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies -MONDO:0014976 lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome MONDO:0019058 Orphanet:478049 Orphanet:68385 obsolete neurometabolic disease -MONDO:0014976 lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome MONDO:0020029 Orphanet:478049 Orphanet:98054 obsolete rare genetic cardiac disease -MONDO:0014976 lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome MONDO:0020225 Orphanet:478049 Orphanet:98641 obsolete syndromic cataract -MONDO:0014977 autosomal recessive limb-girdle muscular dystrophy type 2R1 MONDO:0017742 Orphanet:480682 Orphanet:309450 obsolete disorder of O-xylosylglycan synthesis -MONDO:0015003 dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities MONDO:0015918 Orphanet:508093 Orphanet:182070 obsolete rare neurodegenerative disease -MONDO:0015003 dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities MONDO:0018329 Orphanet:508093 Orphanet:391711 obsolete persistent combined dystonia -MONDO:0015003 dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities MONDO:0018609 Orphanet:508093 Orphanet:441434 obsolete syndromic hereditary optic neuropathy -MONDO:0015003 dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities MONDO:0019058 Orphanet:508093 Orphanet:68385 obsolete neurometabolic disease -MONDO:0015003 dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities MONDO:8000032 Orphanet:508093 Orphanet:377789 obsolete malformation syndrome -MONDO:0015004 dystonia 28, childhood-onset MONDO:0018329 Orphanet:589618 Orphanet:391711 obsolete persistent combined dystonia -MONDO:0015004 dystonia 28, childhood-onset MONDO:0035862 Orphanet:589618 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome -MONDO:0015006 epidermolysis bullosa simplex 6, generalized, with scarring and hair loss MONDO:0035685 Orphanet:508529 Orphanet:595351 obsolete epidermolysis bullosa simplex with extracutaneous involvement -MONDO:0015007 spastic paraplegia, intellectual disability, nystagmus, and obesity MONDO:0016565 Orphanet:521390 Orphanet:240371 obsolete syndromic genetic obesity -MONDO:0015007 spastic paraplegia, intellectual disability, nystagmus, and obesity MONDO:0035862 Orphanet:521390 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome -MONDO:0015007 spastic paraplegia, intellectual disability, nystagmus, and obesity MONDO:8000032 Orphanet:521390 Orphanet:377789 obsolete malformation syndrome -MONDO:0015010 atypical glycine encephalopathy MONDO:8000031 Orphanet:289863 Orphanet:557494 obsolete subtype of a disorder -MONDO:0015012 mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders MONDO:0015118 Orphanet:505248 Orphanet:101944 obsolete rare pulmonary disease -MONDO:0015012 mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders MONDO:0015510 Orphanet:505248 Orphanet:156610 obsolete rare genetic respiratory disease -MONDO:0015012 mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders MONDO:0019711 Orphanet:505248 Orphanet:93454 obsolete dysostosis with predominant vertebral and costal involvement -MONDO:0015012 mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders MONDO:0035863 Orphanet:505248 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0015012 mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders MONDO:8000032 Orphanet:505248 Orphanet:377789 obsolete malformation syndrome -MONDO:0015014 coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, and deafness MONDO:0015310 Orphanet:603494 Orphanet:137905 obsolete syndromic optic nerve hypoplasia -MONDO:0015014 coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, and deafness MONDO:0019589 Orphanet:603494 Orphanet:90642 obsolete syndromic genetic hearing loss -MONDO:0015014 coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, and deafness MONDO:8000032 Orphanet:603494 Orphanet:377789 obsolete malformation syndrome -MONDO:0015017 anterior segment dysgenesis 8 MONDO:8000032 Orphanet:519388 Orphanet:377789 obsolete malformation syndrome -MONDO:0015028 48,XXYY syndrome MONDO:0015620 Orphanet:10 Orphanet:165707 obsolete syndromic urogenital tract malformation -MONDO:0015028 48,XXYY syndrome MONDO:0017006 Orphanet:10 Orphanet:263749 obsolete X and Y chromosomal anomaly -MONDO:0015028 48,XXYY syndrome MONDO:0035863 Orphanet:10 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0015028 48,XXYY syndrome MONDO:8000032 Orphanet:10 Orphanet:377789 obsolete malformation syndrome -MONDO:0015029 reticular perineurioma MONDO:8000031 Orphanet:100000 Orphanet:557494 obsolete subtype of a disorder -MONDO:0015030 sclerosing perineurioma MONDO:8000031 Orphanet:100001 Orphanet:557494 obsolete subtype of a disorder -MONDO:0015033 ABeta amyloidosis, dutch type MONDO:8000031 Orphanet:100006 Orphanet:557494 obsolete subtype of a disorder -MONDO:0015034 lissencephaly with cerebellar hypoplasia type A MONDO:8000032 Orphanet:100011 Orphanet:377789 obsolete malformation syndrome -MONDO:0015035 lissencephaly with cerebellar hypoplasia type B MONDO:8000032 Orphanet:100012 Orphanet:377789 obsolete malformation syndrome -MONDO:0015036 lissencephaly with cerebellar hypoplasia type C MONDO:8000032 Orphanet:100013 Orphanet:377789 obsolete malformation syndrome -MONDO:0015037 lissencephaly with cerebellar hypoplasia type D MONDO:8000032 Orphanet:100014 Orphanet:377789 obsolete malformation syndrome -MONDO:0015038 lissencephaly with cerebellar hypoplasia type E MONDO:8000032 Orphanet:100015 Orphanet:377789 obsolete malformation syndrome -MONDO:0015039 lissencephaly with cerebellar hypoplasia type F MONDO:8000032 Orphanet:100016 Orphanet:377789 obsolete malformation syndrome -MONDO:0015040 myelodysplastic syndrome with excess blasts-1 MONDO:8000031 Orphanet:100019 Orphanet:557494 obsolete subtype of a disorder -MONDO:0015041 myelodysplastic syndrome with excess blasts-2 MONDO:8000031 Orphanet:100020 Orphanet:557494 obsolete subtype of a disorder -MONDO:0015042 primary plasmacytoma of the bone MONDO:8000031 Orphanet:100021 Orphanet:557494 obsolete subtype of a disorder -MONDO:0015043 extramedullary soft tissue plasmacytoma MONDO:8000031 Orphanet:100022 Orphanet:557494 obsolete subtype of a disorder -MONDO:0015044 mu-heavy chain disease MONDO:8000031 Orphanet:100024 Orphanet:557494 obsolete subtype of a disorder -MONDO:0015045 alpha-heavy chain disease MONDO:8000031 Orphanet:100025 Orphanet:557494 obsolete subtype of a disorder -MONDO:0015046 gamma-heavy chain disease MONDO:8000031 Orphanet:100026 Orphanet:557494 obsolete subtype of a disorder -MONDO:0015047 amelogenesis imperfecta type 1 MONDO:8000031 Orphanet:100031 Orphanet:557494 obsolete subtype of a disorder -MONDO:0015048 amelogenesis imperfecta type 2 MONDO:8000031 Orphanet:100033 Orphanet:557494 obsolete subtype of a disorder -MONDO:0015049 solitary necrotic nodule of the liver MONDO:0017632 Orphanet:100035 Orphanet:306636 obsolete rare tumor of liver and intrahepatic biliary tract -MONDO:0015050 esophageal duplication cyst MONDO:0019619 Orphanet:100047 Orphanet:91357 obsolete duplication of the esophagus -MONDO:0015050 esophageal duplication cyst MONDO:8000030 Orphanet:100047 Orphanet:377791 obsolete morphological anomaly -MONDO:0015051 tubular duplication of the esophagus MONDO:0019619 Orphanet:100048 Orphanet:91357 obsolete duplication of the esophagus -MONDO:0015051 tubular duplication of the esophagus MONDO:8000030 Orphanet:100048 Orphanet:377791 obsolete morphological anomaly -MONDO:0015052 obsolete primary interstitial lung disease specific to childhood due to pulmonary surfactant protein anomalies MONDO:0017016 Orphanet:100049 Orphanet:264670 obsolete primary interstitial lung disease specific to childhood due to alveolar structure disorder -MONDO:0015052 obsolete primary interstitial lung disease specific to childhood due to pulmonary surfactant protein anomalies MONDO:0028569 Orphanet:100049 Orphanet:264992 obsolete genetic interstitial lung disease -MONDO:0015053 hereditary angioedema type 1 MONDO:8000031 Orphanet:100050 Orphanet:557494 obsolete subtype of a disorder -MONDO:0015054 hereditary angioedema type 2 MONDO:8000031 Orphanet:100051 Orphanet:557494 obsolete subtype of a disorder -MONDO:0015055 acquired angioedema type 2 MONDO:8000031 Orphanet:100055 Orphanet:557494 obsolete subtype of a disorder -MONDO:0015056 acquired angioedema type 1 MONDO:8000031 Orphanet:100056 Orphanet:557494 obsolete subtype of a disorder -MONDO:0015059 progressive non-fluent aphasia MONDO:0017643 Orphanet:100070 Orphanet:306708 obsolete frontotemporal neurodegeneration with movement disorder -MONDO:0015060 mosaic trisomy 3 MONDO:0020051 Orphanet:100071 Orphanet:98131 obsolete total autosomal trisomy -MONDO:0015060 mosaic trisomy 3 MONDO:8000032 Orphanet:100071 Orphanet:377789 obsolete malformation syndrome -MONDO:0015061 neurogenic thoracic outlet syndrome MONDO:8000031 Orphanet:100073 Orphanet:557494 obsolete subtype of a disorder -MONDO:0015066 neuroendocrine tumor of the appendix, well differentiated, low or intermediate grade MONDO:0028618 Orphanet:100079 Orphanet:481508 obsolete gastroenteric neuroendocrine neoplasm -MONDO:0015069 neuroendocrine tumor of the anal canal MONDO:0028618 Orphanet:100082 Orphanet:481508 obsolete gastroenteric neuroendocrine neoplasm -MONDO:0015070 laryngeal neuroendocrine neoplasm MONDO:0015081 Orphanet:100083 Orphanet:100101 obsolete neuroendocrine tumor with other location -MONDO:0015070 laryngeal neuroendocrine neoplasm MONDO:0020035 Orphanet:100083 Orphanet:98061 obsolete rare otorhinolaryngologic tumor -MONDO:0015071 middle ear neuroendocrine tumor MONDO:0015081 Orphanet:100084 Orphanet:100101 obsolete neuroendocrine tumor with other location -MONDO:0015071 middle ear neuroendocrine tumor MONDO:0020035 Orphanet:100084 Orphanet:98061 obsolete rare otorhinolaryngologic tumor -MONDO:0015072 liver neuroendocrine carcinoma MONDO:0015081 Orphanet:100085 Orphanet:100101 obsolete neuroendocrine tumor with other location -MONDO:0015072 liver neuroendocrine carcinoma MONDO:0018530 Orphanet:100085 Orphanet:424933 obsolete rare epithelial tumor of liver and intrahepatic biliary tract -MONDO:0015073 gallbladder neuroendocrine tumor, grade 1/2 MONDO:0015081 Orphanet:100086 Orphanet:100101 obsolete neuroendocrine tumor with other location -MONDO:0015073 gallbladder neuroendocrine tumor, grade 1/2 MONDO:0017631 Orphanet:100086 Orphanet:306633 obsolete rare tumor of gallbladder and extrahepatic biliary tract -MONDO:0015074 thyroid tumor MONDO:0015125 Orphanet:100087 Orphanet:101955 obsolete rare thyroid disease -MONDO:0015074 thyroid tumor MONDO:0015936 Orphanet:100087 Orphanet:182130 obsolete rare tumor of endocrine glands -MONDO:0015076 obsolete rare parathyroid tumor MONDO:0015936 Orphanet:100090 Orphanet:182130 obsolete rare tumor of endocrine glands -MONDO:0015076 obsolete rare parathyroid tumor MONDO:0019061 Orphanet:100090 Orphanet:68415 obsolete rare parathyroid disease and phosphocalcic metabolism anomaly -MONDO:0015079 multiple polyglandular tumor MONDO:0015936 Orphanet:100094 Orphanet:182130 obsolete rare tumor of endocrine glands -MONDO:0015079 multiple polyglandular tumor MONDO:0025511 Orphanet:100094 Orphanet:271847 obsolete inherited neuroendocrine tumor -MONDO:0015079 multiple polyglandular tumor MONDO:0026209 Orphanet:100094 Orphanet:183643 obsolete genetic polyendocrinopathy -MONDO:0015081 obsolete neuroendocrine tumor with other location MONDO:0019496 Orphanet:100101 Orphanet:877 neuroendocrine neoplasm -MONDO:0015082 alopecia antibody deficiency MONDO:0018041 Orphanet:1006 Orphanet:331244 obsolete other immunodeficiency syndrome with predominantly antibody defects -MONDO:0015084 FRAXF syndrome MONDO:0021198 Orphanet:100974 Orphanet:98053 obsolete rare genetic disease -MONDO:0015086 cloverleaf skull-asphyxiating thoracic dysplasia syndrome MONDO:8000032 Orphanet:100978 Orphanet:377789 obsolete malformation syndrome -MONDO:0015088 obsolete autosomal dominant pure spastic paraplegia MONDO:0015149 Orphanet:100980 Orphanet:102012 pure hereditary spastic paraplegia -MONDO:0015089 obsolete autosomal recessive complex spastic paraplegia MONDO:0015150 Orphanet:100981 Orphanet:102013 complex hereditary spastic paraplegia -MONDO:0015090 obsolete autosomal recessive pure spastic paraplegia MONDO:0015149 Orphanet:100982 Orphanet:102012 pure hereditary spastic paraplegia -MONDO:0015092 cleft hard palate MONDO:8000030 Orphanet:101023 Orphanet:377791 obsolete morphological anomaly -MONDO:0015093 sub-cortical nodular heterotopia MONDO:8000031 Orphanet:101029 Orphanet:557494 obsolete subtype of a disorder -MONDO:0015094 subependymal nodular heterotopia MONDO:8000031 Orphanet:101030 Orphanet:557494 obsolete subtype of a disorder -MONDO:0015096 familial hypofibrinogenemia MONDO:8000031 Orphanet:101041 Orphanet:557494 obsolete subtype of a disorder -MONDO:0015097 aortic valve dysplasia MONDO:8000031 Orphanet:101043 Orphanet:557494 obsolete subtype of a disorder -MONDO:0015099 unilateral hemispheric polymicrogyria MONDO:8000031 Orphanet:101071 Orphanet:557494 obsolete subtype of a disorder -MONDO:0015101 Marin-Amat syndrome MONDO:8000031 Orphanet:101104 Orphanet:557494 obsolete subtype of a disorder -MONDO:0015103 pulmonary valve agenesis-tetralogy of fallot-absence of ductus arteriosus syndrome MONDO:8000032 Orphanet:101206 Orphanet:377789 obsolete malformation syndrome -MONDO:0015104 porphyria cutanea tarda MONDO:0019800 Orphanet:101330 Orphanet:95161 obsolete chronic hepatic porphyria -MONDO:0015106 obsolete rare urogenital disease MONDO:8000033 Orphanet:101433 Orphanet:557492 obsolete group of disorders -MONDO:0015107 obsolete rare genetic eye disease MONDO:0021198 Orphanet:101435 Orphanet:98053 obsolete rare genetic disease MONDO:0015108 obsolete rare non-syndromic intellectual disability MONDO:0000001 Orphanet:101685 Orphanet:377788 disease -MONDO:0015108 obsolete rare non-syndromic intellectual disability MONDO:0015653 Orphanet:101685 Orphanet:166472 monogenic epilepsy -MONDO:0015108 obsolete rare non-syndromic intellectual disability MONDO:0015982 Orphanet:101685 Orphanet:183757 obsolete rare genetic intellectual disability -MONDO:0015108 obsolete rare non-syndromic intellectual disability MONDO:0019491 Orphanet:101685 Orphanet:87277 obsolete rare intellectual disability -MONDO:0015109 congenital anomaly of the mitral subvalvular apparatus MONDO:8000030 Orphanet:101932 Orphanet:377791 obsolete morphological anomaly -MONDO:0015110 obsolete genetic cardiac rhythm disease MONDO:0016347 Orphanet:101934 Orphanet:218436 obsolete rare cardiac rhythm disease -MONDO:0015110 obsolete genetic cardiac rhythm disease MONDO:0020029 Orphanet:101934 Orphanet:98054 obsolete rare genetic cardiac disease -MONDO:0015111 obsolete gastroesophageal disease MONDO:0019997 Orphanet:101936 Orphanet:97935 obsolete rare gastroenterologic disease -MONDO:0015112 obsolete rare pancreatic disease MONDO:0019997 Orphanet:101937 Orphanet:97935 obsolete rare gastroenterologic disease -MONDO:0015113 obsolete rare vascular liver disease MONDO:0018928 Orphanet:101938 Orphanet:57146 obsolete rare hepatic disease -MONDO:0015114 obsolete rare parenchymal liver disease MONDO:0018928 Orphanet:101939 Orphanet:57146 obsolete rare hepatic disease -MONDO:0015115 obsolete rare genetic metabolic liver disease MONDO:0015507 Orphanet:101940 Orphanet:156601 obsolete rare genetic hepatic disease -MONDO:0015115 obsolete rare genetic metabolic liver disease MONDO:0018928 Orphanet:101940 Orphanet:57146 obsolete rare hepatic disease -MONDO:0015116 obsolete rare biliary tract disease MONDO:0018928 Orphanet:101941 Orphanet:57146 obsolete rare hepatic disease -MONDO:0015117 obsolete rare hepatic and biliary tract tumor MONDO:0018928 Orphanet:101943 Orphanet:57146 obsolete rare hepatic disease -MONDO:0015117 obsolete rare hepatic and biliary tract tumor MONDO:0020033 Orphanet:101943 Orphanet:98059 obsolete rare digestive tumor -MONDO:0015118 obsolete rare pulmonary disease MONDO:0020000 Orphanet:101944 Orphanet:97955 obsolete rare respiratory disease -MONDO:0015119 obsolete bronchopulmonary tumor MONDO:0020034 Orphanet:101945 Orphanet:98060 obsolete rare respiratory tract neoplasm -MONDO:0015121 obsolete rare eye tumor MONDO:0020004 Orphanet:101950 Orphanet:97966 obsolete rare eye disease -MONDO:0015121 obsolete rare eye tumor MONDO:0020031 Orphanet:101950 Orphanet:98057 obsolete rare tumor -MONDO:0015122 obsolete rare diabetes mellitus MONDO:0020005 Orphanet:101952 Orphanet:97978 obsolete rare endocrine disease -MONDO:0015123 obsolete rare inherited dyslipidemia MONDO:0002525 Orphanet:101953 Orphanet:309005 inherited lipid metabolism disorder -MONDO:0015123 obsolete rare inherited dyslipidemia MONDO:0015513 Orphanet:101953 Orphanet:156638 obsolete rare genetic endocrine disease -MONDO:0015123 obsolete rare inherited dyslipidemia MONDO:0020005 Orphanet:101953 Orphanet:97978 obsolete rare endocrine disease -MONDO:0015124 obsolete rare adrenal disease MONDO:0020005 Orphanet:101954 Orphanet:97978 obsolete rare endocrine disease -MONDO:0015125 obsolete rare thyroid disease MONDO:0020005 Orphanet:101955 Orphanet:97978 obsolete rare endocrine disease -MONDO:0015126 polyendocrinopathy MONDO:0020005 Orphanet:101956 Orphanet:97978 obsolete rare endocrine disease -MONDO:0015127 pituitary deficiency MONDO:0015889 Orphanet:101957 Orphanet:181384 obsolete rare hypothalamic or pituitary disease -MONDO:0015127 pituitary deficiency MONDO:0015968 Orphanet:101957 Orphanet:183628 obsolete rare genetic hypothalamic or pituitary disease -MONDO:0015128 primary adrenal insufficiency MONDO:0015124 Orphanet:101958 Orphanet:101954 obsolete rare adrenal disease -MONDO:0015130 obsolete acquired chronic primary adrenal insufficiency MONDO:0015129 Orphanet:101963 Orphanet:101959 chronic primary adrenal insufficiency -MONDO:0015131 combined immunodeficiency MONDO:0015823 Orphanet:101972 Orphanet:179006 obsolete primary immunodeficiency due to a defect in adaptive immunity -MONDO:0015132 obsolete immunodeficiency predominantly affecting antibody production MONDO:0015823 Orphanet:101977 Orphanet:179006 obsolete primary immunodeficiency due to a defect in adaptive immunity -MONDO:0015133 obsolete quantitative and/or qualitative congenital phagocyte defect MONDO:0015135 Orphanet:101985 Orphanet:101988 obsolete primary immunodeficiency due to a genetic defect in innate immunity -MONDO:0015134 constitutional neutropenia MONDO:0015133 Orphanet:101987 Orphanet:101985 obsolete quantitative and/or qualitative congenital phagocyte defect -MONDO:0015135 obsolete primary immunodeficiency due to a genetic defect in innate immunity MONDO:0003778 Orphanet:101988 Orphanet:101997 inborn error of immunity -MONDO:0015136 obsolete immunodeficiency due to a genetic complement cascade protein anomaly MONDO:0015135 Orphanet:101992 Orphanet:101988 obsolete primary immunodeficiency due to a genetic defect in innate immunity -MONDO:0015139 obsolete rare epilepsy MONDO:0020009 Orphanet:101998 Orphanet:98006 obsolete rare neurologic disease -MONDO:0015140 early-onset autosomal dominant Alzheimer disease MONDO:0020136 Orphanet:1020 Orphanet:98534 obsolete neurodegenerative disease with dementia -MONDO:0015140 early-onset autosomal dominant Alzheimer disease MONDO:0021037 Orphanet:1020 Orphanet:276058 obsolete genetic neurodegenerative disease with dementia -MONDO:0015141 obsolete disorder of medulla oblongata MONDO:0020009 Orphanet:102000 Orphanet:98006 obsolete rare neurologic disease -MONDO:0015143 obsolete rare movement disorder MONDO:0020009 Orphanet:102003 Orphanet:98006 obsolete rare neurologic disease -MONDO:0015144 obsolete brain inflammatory disease MONDO:0015916 Orphanet:102005 Orphanet:182064 obsolete rare neuroinflammatory or neuroimmunological disease -MONDO:0015145 obsolete neurovascular malformation MONDO:0019110 Orphanet:102006 Orphanet:71281 obsolete rare central nervous system or retinal vascular disease -MONDO:0015147 obsolete other syndrome with lissencephaly as a major feature MONDO:0018838 Orphanet:102010 Orphanet:48471 lissencephaly spectrum disorders -MONDO:0015153 obsolete autosomal monosomy MONDO:0020049 Orphanet:102020 Orphanet:98127 autosomal anomaly -MONDO:0015159 multiple congenital anomalies/dysmorphic syndrome-intellectual disability MONDO:0015162 Orphanet:102283 Orphanet:102369 obsolete rare syndromic intellectual disability -MONDO:0015162 obsolete rare syndromic intellectual disability MONDO:0019491 Orphanet:102369 Orphanet:87277 obsolete rare intellectual disability -MONDO:0015166 acute myeloid leukemia with t(8;21)(q22;q22) translocation MONDO:0020078 Orphanet:102724 Orphanet:98277 obsolete acute myeloid leukemia with recurrent genetic anomaly -MONDO:0015167 amniotic band syndrome MONDO:0034668 Orphanet:295000 Orphanet:498461 obsolete terminal transverse limb defect -MONDO:0015167 amniotic band syndrome MONDO:8000032 Orphanet:295000 Orphanet:377789 obsolete malformation syndrome -MONDO:0015169 chronic diarrhea due to glucoamylase deficiency MONDO:0015181 Orphanet:103907 Orphanet:104006 obsolete congenital intestinal disease due to an enzymatic defect -MONDO:0015170 congenital sodium diarrhea MONDO:0015178 Orphanet:103908 Orphanet:104003 obsolete congenital intestinal transport defect -MONDO:0015170 congenital sodium diarrhea MONDO:0019126 Orphanet:103908 Orphanet:73014 obsolete intractable diarrhea of infancy -MONDO:0015170 congenital sodium diarrhea MONDO:0031697 Orphanet:103908 Orphanet:363300 obsolete genetic intractable diarrhea of infancy -MONDO:0015171 congenital enterocyte heparan sulfate deficiency MONDO:0015182 Orphanet:103910 Orphanet:104007 obsolete congenital enteropathy involving intestinal mucosa development -MONDO:0015175 autoimmune pancreatitis MONDO:0015112 Orphanet:103919 Orphanet:101937 obsolete rare pancreatic disease -MONDO:0015176 undetermined colitis MONDO:0015187 Orphanet:103920 Orphanet:104012 obsolete rare inflammatory bowel disease -MONDO:0015177 metaphyseal anadysplasia MONDO:0019693 Orphanet:1040 Orphanet:93430 obsolete multiple metaphyseal dysplasia -MONDO:0015178 obsolete congenital intestinal transport defect MONDO:0015245 Orphanet:104003 Orphanet:117569 obsolete rare intestinal disease -MONDO:0015178 obsolete congenital intestinal transport defect MONDO:0015616 Orphanet:104003 Orphanet:165655 obsolete rare genetic intestinal disease -MONDO:0015179 obsolete intestinal disease due to vitamin absorption anomaly MONDO:0015245 Orphanet:104004 Orphanet:117569 obsolete rare intestinal disease -MONDO:0015179 obsolete intestinal disease due to vitamin absorption anomaly MONDO:0015616 Orphanet:104004 Orphanet:165655 obsolete rare genetic intestinal disease -MONDO:0015180 obsolete intestinal disease due to fat malabsorption MONDO:0015245 Orphanet:104005 Orphanet:117569 obsolete rare intestinal disease -MONDO:0015181 obsolete congenital intestinal disease due to an enzymatic defect MONDO:0015245 Orphanet:104006 Orphanet:117569 obsolete rare intestinal disease -MONDO:0015181 obsolete congenital intestinal disease due to an enzymatic defect MONDO:0015616 Orphanet:104006 Orphanet:165655 obsolete rare genetic intestinal disease -MONDO:0015182 obsolete congenital enteropathy involving intestinal mucosa development MONDO:0015245 Orphanet:104007 Orphanet:117569 obsolete rare intestinal disease -MONDO:0015182 obsolete congenital enteropathy involving intestinal mucosa development MONDO:0015616 Orphanet:104007 Orphanet:165655 obsolete rare genetic intestinal disease -MONDO:0015183 short bowel syndrome MONDO:0015245 Orphanet:104008 Orphanet:117569 obsolete rare intestinal disease -MONDO:0015184 obsolete rare disease involving intestinal motility MONDO:0015245 Orphanet:104009 Orphanet:117569 obsolete rare intestinal disease -MONDO:0015184 obsolete rare disease involving intestinal motility MONDO:0015616 Orphanet:104009 Orphanet:165655 obsolete rare genetic intestinal disease -MONDO:0015185 intestinal polyposis syndrome MONDO:0018538 Orphanet:104010 Orphanet:425003 obsolete inherited digestive cancer-predisposing syndrome -MONDO:0015186 obsolete rare tumor of intestine MONDO:0015245 Orphanet:104011 Orphanet:117569 obsolete rare intestinal disease -MONDO:0015186 obsolete rare tumor of intestine MONDO:0020033 Orphanet:104011 Orphanet:98059 obsolete rare digestive tumor -MONDO:0015187 obsolete rare inflammatory bowel disease MONDO:0015245 Orphanet:104012 Orphanet:117569 obsolete rare intestinal disease -MONDO:0015188 obsolete metabolic disorder with intestinal involvement MONDO:0015245 Orphanet:104013 Orphanet:117569 obsolete rare intestinal disease -MONDO:0015188 obsolete metabolic disorder with intestinal involvement MONDO:0015616 Orphanet:104013 Orphanet:165655 obsolete rare genetic intestinal disease -MONDO:0015191 myopathic intestinal pseudoobstruction MONDO:8000031 Orphanet:104077 Orphanet:557494 obsolete subtype of a disorder -MONDO:0015192 obsolete unclassified intestinal pseudoobstruction MONDO:0017574 Orphanet:104078 Orphanet:2978 chronic intestinal pseudoobstruction -MONDO:0015192 obsolete unclassified intestinal pseudoobstruction MONDO:8000031 Orphanet:104078 Orphanet:557494 obsolete subtype of a disorder -MONDO:0015193 hydrops fetalis MONDO:8000032 Orphanet:1041 Orphanet:377789 obsolete malformation syndrome -MONDO:0015194 sideroblastic anemia MONDO:0015223 Orphanet:1047 Orphanet:108997 obsolete rare anemia -MONDO:0015195 atresia of urethra MONDO:8000030 Orphanet:105 Orphanet:377791 obsolete morphological anomaly -MONDO:0015196 vein of Galen aneurysm MONDO:0015145 Orphanet:1053 Orphanet:102006 obsolete neurovascular malformation -MONDO:0015196 vein of Galen aneurysm MONDO:0016229 Orphanet:1053 Orphanet:211240 obsolete hereditary vascular anomaly -MONDO:0015196 vein of Galen aneurysm MONDO:0016234 Orphanet:1053 Orphanet:211266 obsolete rare arteriovenous malformation -MONDO:0015196 vein of Galen aneurysm MONDO:0031949 Orphanet:1053 Orphanet:371436 obsolete genetic neurovascular malformation -MONDO:0015196 vein of Galen aneurysm MONDO:8000030 Orphanet:1053 Orphanet:377791 obsolete morphological anomaly -MONDO:0015197 aneurysm of sinus of Valsalva MONDO:0020293 Orphanet:1054 Orphanet:98725 obsolete ascending aorta anomaly -MONDO:0015197 aneurysm of sinus of Valsalva MONDO:8000030 Orphanet:1054 Orphanet:377791 obsolete morphological anomaly -MONDO:0015198 aniridia-ptosis-intellectual disability-familial obesity syndrome MONDO:0020148 Orphanet:1067 Orphanet:98557 obsolete syndromic aniridia -MONDO:0015198 aniridia-ptosis-intellectual disability-familial obesity syndrome MONDO:0035863 Orphanet:1067 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0015198 aniridia-ptosis-intellectual disability-familial obesity syndrome MONDO:8000032 Orphanet:1067 Orphanet:377789 obsolete malformation syndrome -MONDO:0015199 aniridia - intellectual disability syndrome MONDO:0020148 Orphanet:1068 Orphanet:98557 obsolete syndromic aniridia -MONDO:0015199 aniridia - intellectual disability syndrome MONDO:0020225 Orphanet:1068 Orphanet:98641 obsolete syndromic cataract -MONDO:0015199 aniridia - intellectual disability syndrome MONDO:0034937 Orphanet:1068 Orphanet:519292 obsolete syndromic ectopia lentis -MONDO:0015199 aniridia - intellectual disability syndrome MONDO:0035863 Orphanet:1068 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0015199 aniridia - intellectual disability syndrome MONDO:8000032 Orphanet:1068 Orphanet:377789 obsolete malformation syndrome -MONDO:0015200 anisakiasis MONDO:0015577 Orphanet:1070 Orphanet:163588 obsolete rare parasitic disease -MONDO:0015201 ankyloblepharon filiforme-imperforate anus syndrome MONDO:8000031 Orphanet:1074 Orphanet:557494 obsolete subtype of a disorder -MONDO:0015204 microlissencephaly MONDO:0016055 Orphanet:1083 Orphanet:199639 obsolete syndrome with corpus callosum agenesis /dysgenesis as a major feature -MONDO:0015204 microlissencephaly MONDO:0017122 Orphanet:1083 Orphanet:269573 obsolete genetic syndrome with corpus callosum agenesis/dysgenesis as a major feature -MONDO:0015204 microlissencephaly MONDO:8000030 Orphanet:1083 Orphanet:377791 obsolete morphological anomaly -MONDO:0015207 obsolete non-syndromic esophageal malformation MONDO:0019513 Orphanet:108959 Orphanet:88993 obsolete esophageal malformation -MONDO:0015208 obsolete syndromic esophageal malformation MONDO:0019513 Orphanet:108961 Orphanet:88993 obsolete esophageal malformation -MONDO:0015209 obsolete non-syndromic gastroduodenal malformation MONDO:0019998 Orphanet:108963 Orphanet:97944 obsolete gastroduodenal malformation -MONDO:0015210 obsolete syndromic gastroduodenal malformation MONDO:0019998 Orphanet:108965 Orphanet:97944 obsolete gastroduodenal malformation -MONDO:0015211 obsolete non-syndromic intestinal malformation MONDO:0019999 Orphanet:108967 Orphanet:97945 obsolete intestinal malformation -MONDO:0015212 obsolete syndromic intestinal malformation MONDO:0019999 Orphanet:108969 Orphanet:97945 obsolete intestinal malformation -MONDO:0015213 obsolete non-syndromic visceral malformation MONDO:0020020 Orphanet:108971 Orphanet:98041 obsolete visceral malformation of the liver, biliary tract, pancreas or spleen -MONDO:0015213 obsolete non-syndromic visceral malformation MONDO:0026184 Orphanet:108971 Orphanet:183548 obsolete genetic visceral malformation of the liver, biliary tract, pancreas or spleen -MONDO:0015214 obsolete syndromic visceral malformation MONDO:0020020 Orphanet:108973 Orphanet:98041 obsolete visceral malformation of the liver, biliary tract, pancreas or spleen -MONDO:0015214 obsolete syndromic visceral malformation MONDO:0026184 Orphanet:108973 Orphanet:183548 obsolete genetic visceral malformation of the liver, biliary tract, pancreas or spleen -MONDO:0015215 obsolete non-syndromic diaphragmatic or abdominal wall malformation MONDO:0020021 Orphanet:108977 Orphanet:98043 obsolete diaphragmatic or abdominal wall malformation -MONDO:0015216 obsolete syndromic diaphragmatic or abdominal wall malformation MONDO:0020021 Orphanet:108979 Orphanet:98043 obsolete diaphragmatic or abdominal wall malformation -MONDO:0015219 obsolete non-syndromic central nervous system malformation MONDO:0020022 Orphanet:108989 Orphanet:98044 central nervous system malformation -MONDO:0015220 obsolete syndrome with a central nervous system malformation as major feature MONDO:0020022 Orphanet:108991 Orphanet:98044 central nervous system malformation -MONDO:0015221 obsolete non-syndromic respiratory or mediastinal malformation MONDO:0020002 Orphanet:108993 Orphanet:97962 obsolete rare surgical thoracic disease -MONDO:0015221 obsolete non-syndromic respiratory or mediastinal malformation MONDO:0020023 Orphanet:108993 Orphanet:98045 obsolete respiratory or mediastinal malformation -MONDO:0015221 obsolete non-syndromic respiratory or mediastinal malformation MONDO:0026185 Orphanet:108993 Orphanet:183554 obsolete genetic respiratory or mediastinal malformation -MONDO:0015222 obsolete syndromic respiratory or mediastinal malformation MONDO:0020002 Orphanet:108995 Orphanet:97962 obsolete rare surgical thoracic disease -MONDO:0015222 obsolete syndromic respiratory or mediastinal malformation MONDO:0020023 Orphanet:108995 Orphanet:98045 obsolete respiratory or mediastinal malformation -MONDO:0015223 obsolete rare anemia MONDO:0005570 Orphanet:108997 Orphanet:97992 hematologic disorder -MONDO:0015224 obsolete rare intoxication MONDO:8000033 Orphanet:108999 Orphanet:557492 obsolete group of disorders -MONDO:0015225 arthrogryposis syndrome MONDO:0015226 Orphanet:109007 Orphanet:109009 obsolete syndrome with limb malformations as a major feature -MONDO:0015226 obsolete syndrome with limb malformations as a major feature MONDO:0019054 Orphanet:109009 Orphanet:68378 congenital limb malformation -MONDO:0015227 obsolete non-syndromic limb malformation MONDO:0019054 Orphanet:109011 Orphanet:68378 congenital limb malformation -MONDO:0015227 obsolete non-syndromic limb malformation MONDO:0026180 Orphanet:109011 Orphanet:183536 obsolete genetic congenital limb malformation -MONDO:0015228 pentasomy X MONDO:0017002 Orphanet:11 Orphanet:263723 obsolete polysomy of X chromosome -MONDO:0015228 pentasomy X MONDO:8000032 Orphanet:11 Orphanet:377789 obsolete malformation syndrome -MONDO:0015229 Bardet-Biedl syndrome MONDO:0015184 Orphanet:110 Orphanet:104009 obsolete rare disease involving intestinal motility -MONDO:0015229 Bardet-Biedl syndrome MONDO:0015890 Orphanet:110 Orphanet:181387 obsolete rare disorder with congenital hypogonadotropic hypogonadism -MONDO:0015229 Bardet-Biedl syndrome MONDO:0016565 Orphanet:110 Orphanet:240371 obsolete syndromic genetic obesity -MONDO:0015229 Bardet-Biedl syndrome MONDO:0020240 Orphanet:110 Orphanet:98661 obsolete syndromic retinitis pigmentosa -MONDO:0015229 Bardet-Biedl syndrome MONDO:0022405 Orphanet:110 Orphanet:156180 obsolete retinal ciliopathy due to mutation in nephronophthisis gene -MONDO:0015229 Bardet-Biedl syndrome MONDO:0022407 Orphanet:110 Orphanet:156183 obsolete retinal ciliopathy due to mutation in Bardet-Biedl gene -MONDO:0015229 Bardet-Biedl syndrome MONDO:0022409 Orphanet:110 Orphanet:156162 obsolete nephropathy-associated ciliopathy -MONDO:0015229 Bardet-Biedl syndrome MONDO:0032221 Orphanet:110 Orphanet:399846 obsolete rare disorder with female infertility due to a congenital hypogonadotropic hypogonadism -MONDO:0015229 Bardet-Biedl syndrome MONDO:0035340 Orphanet:110 Orphanet:557866 obsolete rare disorder with hirschsprung disease as a major feature -MONDO:0015229 Bardet-Biedl syndrome MONDO:0035863 Orphanet:110 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0015230 anophthalmia-megalocornea-cardiopathy-skeletal anomalies syndrome MONDO:0043008 Orphanet:1101 Orphanet:330206 obsolete genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability -MONDO:0015230 anophthalmia-megalocornea-cardiopathy-skeletal anomalies syndrome MONDO:8000032 Orphanet:1101 Orphanet:377789 obsolete malformation syndrome -MONDO:0015231 Bartter syndrome MONDO:0019744 Orphanet:112 Orphanet:93603 obsolete rare renal tubular disease -MONDO:0015232 radial deficiency-tibial hypoplasia syndrome MONDO:0017433 Orphanet:1121 Orphanet:294957 obsolete dysostosis with combined reduction defects of upper and lower limbs -MONDO:0015232 radial deficiency-tibial hypoplasia syndrome MONDO:8000032 Orphanet:1121 Orphanet:377789 obsolete malformation syndrome -MONDO:0015233 caudal appendage-deafness syndrome MONDO:0019589 Orphanet:1123 Orphanet:90642 obsolete syndromic genetic hearing loss -MONDO:0015233 caudal appendage-deafness syndrome MONDO:0035863 Orphanet:1123 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0015233 caudal appendage-deafness syndrome MONDO:8000032 Orphanet:1123 Orphanet:377789 obsolete malformation syndrome -MONDO:0015234 arachnodactyly-abnormal ossification-intellectual disability syndrome MONDO:0020253 Orphanet:1129 Orphanet:98683 obsolete syndrome with a symptomatic strabismus -MONDO:0015234 arachnodactyly-abnormal ossification-intellectual disability syndrome MONDO:0035863 Orphanet:1129 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0015234 arachnodactyly-abnormal ossification-intellectual disability syndrome MONDO:8000032 Orphanet:1129 Orphanet:377789 obsolete malformation syndrome -MONDO:0015235 arachnodactyly-intellectual disability-dysmorphism syndrome MONDO:0035863 Orphanet:1130 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0015235 arachnodactyly-intellectual disability-dysmorphism syndrome MONDO:8000032 Orphanet:1130 Orphanet:377789 obsolete malformation syndrome -MONDO:0015236 aortic arch defects MONDO:0015222 Orphanet:1132 Orphanet:108995 obsolete syndromic respiratory or mediastinal malformation -MONDO:0015236 aortic arch defects MONDO:0015930 Orphanet:1132 Orphanet:182111 obsolete respiratory malformation -MONDO:0015237 arrhinia MONDO:0015503 Orphanet:1134 Orphanet:156246 obsolete nose and cavum anomaly -MONDO:0015237 arrhinia MONDO:8000032 Orphanet:1134 Orphanet:377789 obsolete malformation syndrome -MONDO:0015238 arrhinia-choanal atresia-microphthalmia syndrome MONDO:0015503 Orphanet:1135 Orphanet:156246 obsolete nose and cavum anomaly -MONDO:0015238 arrhinia-choanal atresia-microphthalmia syndrome MONDO:0033334 Orphanet:1135 Orphanet:435606 obsolete genetic nose and cavum anomaly -MONDO:0015238 arrhinia-choanal atresia-microphthalmia syndrome MONDO:0043008 Orphanet:1135 Orphanet:330206 obsolete genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability -MONDO:0015238 arrhinia-choanal atresia-microphthalmia syndrome MONDO:8000032 Orphanet:1135 Orphanet:377789 obsolete malformation syndrome -MONDO:0015240 digitotalar dysmorphism MONDO:0043008 Orphanet:1146 Orphanet:330206 obsolete genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability -MONDO:0015240 digitotalar dysmorphism MONDO:8000032 Orphanet:1146 Orphanet:377789 obsolete malformation syndrome -MONDO:0015241 arthrogryposis-like syndrome MONDO:8000032 Orphanet:1149 Orphanet:377789 obsolete malformation syndrome -MONDO:0015243 allergic bronchopulmonary aspergillosis MONDO:0015118 Orphanet:1164 Orphanet:101944 obsolete rare pulmonary disease -MONDO:0015243 allergic bronchopulmonary aspergillosis MONDO:0020028 Orphanet:1164 Orphanet:98052 obsolete rare allergic respiratory disease -MONDO:0015244 autosomal recessive cerebellar ataxia MONDO:0020139 Orphanet:1172 Orphanet:98539 obsolete early-onset ataxia with dementia -MONDO:0015245 obsolete rare intestinal disease MONDO:0019997 Orphanet:117569 Orphanet:97935 obsolete rare gastroenterologic disease -MONDO:0015246 obsolete syndromic anorectal malformation MONDO:0019938 Orphanet:117573 Orphanet:96346 anorectal malformation -MONDO:0015247 opsoclonus-myoclonus syndrome MONDO:0015144 Orphanet:1183 Orphanet:102005 obsolete brain inflammatory disease -MONDO:0015247 opsoclonus-myoclonus syndrome MONDO:0017652 Orphanet:1183 Orphanet:306753 obsolete rare disease with myoclonus as a major feature -MONDO:0015247 opsoclonus-myoclonus syndrome MONDO:0034961 Orphanet:1183 Orphanet:519341 obsolete rare brainstem or cerebellar disorder with ophthalmic involvement as a major feature -MONDO:0015248 ataxia-photosensitivity-short stature syndrome MONDO:0035863 Orphanet:1184 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0015248 ataxia-photosensitivity-short stature syndrome MONDO:8000032 Orphanet:1184 Orphanet:377789 obsolete malformation syndrome -MONDO:0015249 mitral atresia disorder MONDO:8000030 Orphanet:1205 Orphanet:377791 obsolete morphological anomaly -MONDO:0015250 spinal atrophy-ophthalmoplegia-pyramidal syndrome MONDO:0016116 Orphanet:1217 Orphanet:206710 obsolete generalized bulbospinal muscular atrophy -MONDO:0015252 severe microbrachycephaly-intellectual disability-athetoid cerebral palsy syndrome MONDO:0035863 Orphanet:1236 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0015252 severe microbrachycephaly-intellectual disability-athetoid cerebral palsy syndrome MONDO:8000032 Orphanet:1236 Orphanet:377789 obsolete malformation syndrome -MONDO:0015253 Diamond-Blackfan anemia MONDO:0015335 Orphanet:124 Orphanet:139039 obsolete Mendelian syndromes with cleft lip/palate -MONDO:0015253 Diamond-Blackfan anemia MONDO:0015945 Orphanet:124 Orphanet:183422 obsolete polymalformative genetic syndrome with increased risk of developing cancer -MONDO:0015253 Diamond-Blackfan anemia MONDO:0035862 Orphanet:124 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome -MONDO:0015254 schistosomiasis MONDO:0015577 Orphanet:1247 Orphanet:163588 obsolete rare parasitic disease -MONDO:0015259 brachydactyly-mesomelia-intellectual disability-heart defects syndrome MONDO:0035863 Orphanet:1277 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0015259 brachydactyly-mesomelia-intellectual disability-heart defects syndrome MONDO:8000032 Orphanet:1277 Orphanet:377789 obsolete malformation syndrome -MONDO:0015260 diphyllobothriasis MONDO:0015577 Orphanet:128 Orphanet:163588 obsolete rare parasitic disease -MONDO:0015263 Brugada syndrome MONDO:0015110 Orphanet:130 Orphanet:101934 obsolete genetic cardiac rhythm disease -MONDO:0015265 bronchiolitis obliterans syndrome MONDO:0015118 Orphanet:1303 Orphanet:101944 obsolete rare pulmonary disease -MONDO:0015267 Feingold syndrome MONDO:0015208 Orphanet:1305 Orphanet:108961 obsolete syndromic esophageal malformation -MONDO:0015267 Feingold syndrome MONDO:0015210 Orphanet:1305 Orphanet:108965 obsolete syndromic gastroduodenal malformation -MONDO:0015267 Feingold syndrome MONDO:0015221 Orphanet:1305 Orphanet:108993 obsolete non-syndromic respiratory or mediastinal malformation -MONDO:0015267 Feingold syndrome MONDO:0015246 Orphanet:1305 Orphanet:117573 obsolete syndromic anorectal malformation -MONDO:0015267 Feingold syndrome MONDO:0031952 Orphanet:1305 Orphanet:371445 obsolete genetic syndromic esophageal malformation -MONDO:0015267 Feingold syndrome MONDO:0035863 Orphanet:1305 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0015267 Feingold syndrome MONDO:0800094 Orphanet:1305 Orphanet:498454 obsolete dysostosis with brachydactyly with extraskeletal manifestations -MONDO:0015267 Feingold syndrome MONDO:8000032 Orphanet:1305 Orphanet:377789 obsolete malformation syndrome -MONDO:0015268 medullary sponge kidney MONDO:0019720 Orphanet:1309 Orphanet:93546 obsolete non-syndromic renal or urinary tract malformation -MONDO:0015268 medullary sponge kidney MONDO:8000030 Orphanet:1309 Orphanet:377791 obsolete morphological anomaly -MONDO:0015269 symmetrical thalamic calcifications MONDO:0020009 Orphanet:1314 Orphanet:98006 obsolete rare neurologic disease -MONDO:0015271 idiopathic camptocormia MONDO:8000030 Orphanet:1320 Orphanet:377791 obsolete morphological anomaly -MONDO:0015272 camptodactyly-taurinuria syndrome MONDO:0015226 Orphanet:1325 Orphanet:109009 obsolete syndrome with limb malformations as a major feature -MONDO:0015272 camptodactyly-taurinuria syndrome MONDO:8000032 Orphanet:1325 Orphanet:377789 obsolete malformation syndrome -MONDO:0015273 complete atrioventricular canal MONDO:8000030 Orphanet:1329 Orphanet:377791 obsolete morphological anomaly -MONDO:0015275 partial atrioventricular canal MONDO:8000030 Orphanet:1330 Orphanet:377791 obsolete morphological anomaly -MONDO:0015278 familial pancreatic carcinoma MONDO:0015618 Orphanet:1333 Orphanet:165661 obsolete genetic pancreatic disease -MONDO:0015278 familial pancreatic carcinoma MONDO:0016314 Orphanet:1333 Orphanet:217074 obsolete rare carcinoma of pancreas -MONDO:0015279 chronic mucocutaneous candidiasis MONDO:0019305 Orphanet:1334 Orphanet:79391 obsolete immune deficiency with skin involvement -MONDO:0015279 chronic mucocutaneous candidiasis MONDO:0026166 Orphanet:1334 Orphanet:183494 obsolete genetic immune deficiency with skin involvement -MONDO:0015280 cardiofaciocutaneous syndrome MONDO:0026989 Orphanet:1340 Orphanet:217595 obsolete syndrome associated with hypertrophic cardiomyopathy -MONDO:0015280 cardiofaciocutaneous syndrome MONDO:0035471 Orphanet:1340 Orphanet:568047 obsolete disorder with multisystemic involvement and primary lymphedema -MONDO:0015280 cardiofaciocutaneous syndrome MONDO:0035863 Orphanet:1340 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0015280 cardiofaciocutaneous syndrome MONDO:8000032 Orphanet:1340 Orphanet:377789 obsolete malformation syndrome -MONDO:0015281 atrial standstill MONDO:0015110 Orphanet:1344 Orphanet:101934 obsolete genetic cardiac rhythm disease -MONDO:0015282 cardiomyopathy-cataract-hip spine disease syndrome MONDO:0016337 Orphanet:1345 Orphanet:217619 obsolete syndrome associated with dilated cardiomyopathy -MONDO:0015282 cardiomyopathy-cataract-hip spine disease syndrome MONDO:0020225 Orphanet:1345 Orphanet:98641 obsolete syndromic cataract -MONDO:0015283 maternally-inherited cardiomyopathy and hearing loss MONDO:0016327 Orphanet:1349 Orphanet:217587 obsolete mitochondrial disease with hypertrophic cardiomyopathy -MONDO:0015283 maternally-inherited cardiomyopathy and hearing loss MONDO:0016793 Orphanet:1349 Orphanet:254776 obsolete mitochondrial oxidative phosphorylation disorder due to a point mutation of mitochondrial DNA -MONDO:0015283 maternally-inherited cardiomyopathy and hearing loss MONDO:8000032 Orphanet:1349 Orphanet:377789 obsolete malformation syndrome -MONDO:0015284 heart-hand syndrome type 2 MONDO:0015110 Orphanet:1350 Orphanet:101934 obsolete genetic cardiac rhythm disease -MONDO:0015284 heart-hand syndrome type 2 MONDO:0043008 Orphanet:1350 Orphanet:330206 obsolete genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability -MONDO:0015284 heart-hand syndrome type 2 MONDO:8000032 Orphanet:1350 Orphanet:377789 obsolete malformation syndrome -MONDO:0015285 Carney complex MONDO:0015673 Orphanet:1359 Orphanet:168194 obsolete rare cardiac tumor -MONDO:0015285 Carney complex MONDO:0017129 Orphanet:1359 Orphanet:271841 obsolete inherited cardiac tumor -MONDO:0015285 Carney complex MONDO:0017820 Orphanet:1359 Orphanet:314749 obsolete obsolete disease with Cushing syndrome as a major feature -MONDO:0015293 segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndrome MONDO:0016235 Orphanet:137608 Orphanet:211277 obsolete complex vascular malformation with associated anomalies -MONDO:0015293 segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndrome MONDO:0017414 Orphanet:137608 Orphanet:294057 obsolete rare nevus -MONDO:0015293 segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndrome MONDO:0033927 Orphanet:137608 Orphanet:459537 obsolete genetic complex vascular malformation with associated anomalies -MONDO:0015293 segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndrome MONDO:8000032 Orphanet:137608 Orphanet:377789 obsolete malformation syndrome -MONDO:0015294 nephrogenic systemic fibrosis MONDO:0019546 Orphanet:137617 Orphanet:90077 obsolete other acquired skin disease -MONDO:0015295 intractable diarrhea-choanal atresia-eye anomalies syndrome MONDO:0015503 Orphanet:137622 Orphanet:156246 obsolete nose and cavum anomaly -MONDO:0015295 intractable diarrhea-choanal atresia-eye anomalies syndrome MONDO:0019126 Orphanet:137622 Orphanet:73014 obsolete intractable diarrhea of infancy -MONDO:0015295 intractable diarrhea-choanal atresia-eye anomalies syndrome MONDO:0031697 Orphanet:137622 Orphanet:363300 obsolete genetic intractable diarrhea of infancy -MONDO:0015295 intractable diarrhea-choanal atresia-eye anomalies syndrome MONDO:0033334 Orphanet:137622 Orphanet:435606 obsolete genetic nose and cavum anomaly -MONDO:0015295 intractable diarrhea-choanal atresia-eye anomalies syndrome MONDO:8000032 Orphanet:137622 Orphanet:377789 obsolete malformation syndrome -MONDO:0015296 cardiac anomalies-heterotaxy syndrome MONDO:0015506 Orphanet:137628 Orphanet:156532 obsolete rare syndrome with cardiac malformations -MONDO:0015296 cardiac anomalies-heterotaxy syndrome MONDO:8000032 Orphanet:137628 Orphanet:377789 obsolete malformation syndrome -MONDO:0015299 Asherman syndrome MONDO:0015859 Orphanet:137686 Orphanet:180205 obsolete rare non-malformative uterovaginal or vulvovaginal disease -MONDO:0015300 cataract - microcornea syndrome MONDO:0020225 Orphanet:1377 Orphanet:98641 obsolete syndromic cataract -MONDO:0015300 cataract - microcornea syndrome MONDO:8000032 Orphanet:1377 Orphanet:377789 obsolete malformation syndrome -MONDO:0015304 arachnoiditis MONDO:0020009 Orphanet:137817 Orphanet:98006 obsolete rare neurologic disease MONDO:0015305 obsolete rare endometriosis MONDO:0000001 Orphanet:137820 Orphanet:377788 disease -MONDO:0015305 obsolete rare endometriosis MONDO:0015857 Orphanet:137820 Orphanet:180199 obsolete rare non-malformative gynecologic or obstetric disease -MONDO:0015306 Lemierre syndrome MONDO:0015575 Orphanet:137839 Orphanet:163582 obsolete rare bacterial infectious disease -MONDO:0015310 obsolete syndromic optic nerve hypoplasia MONDO:0020145 Orphanet:137905 Orphanet:98553 obsolete developmental defect of the eye -MONDO:0015310 obsolete syndromic optic nerve hypoplasia MONDO:0026186 Orphanet:137905 Orphanet:183557 obsolete genetic developmental defect of the eye -MONDO:0015312 choanal atresia, unilateral MONDO:8000031 Orphanet:137917 Orphanet:557494 obsolete subtype of a disorder -MONDO:0015313 choanal atresia, bilateral MONDO:8000031 Orphanet:137920 Orphanet:557494 obsolete subtype of a disorder -MONDO:0015314 primary laryngeal lymphangioma MONDO:0015504 Orphanet:137926 Orphanet:156249 obsolete larynx anomaly -MONDO:0015314 primary laryngeal lymphangioma MONDO:8000032 Orphanet:137926 Orphanet:377789 obsolete malformation syndrome -MONDO:0015315 neonatal brainstem dysfunction MONDO:0020009 Orphanet:137929 Orphanet:98006 obsolete rare neurologic disease -MONDO:0015316 congenital laryngeal palsy MONDO:0015504 Orphanet:137932 Orphanet:156249 obsolete larynx anomaly -MONDO:0015316 congenital laryngeal palsy MONDO:8000032 Orphanet:137932 Orphanet:377789 obsolete malformation syndrome -MONDO:0015317 laryngotracheal angioma MONDO:0015504 Orphanet:137935 Orphanet:156249 obsolete larynx anomaly -MONDO:0015319 obsolete rare disease with Pierre Robin syndrome MONDO:0015501 Orphanet:138044 Orphanet:156237 obsolete syndrome or malformation associated with head and neck malformations -MONDO:0015323 obsolete teratogenic Pierre Robin syndrome MONDO:0015319 Orphanet:138059 Orphanet:138044 obsolete rare disease with Pierre Robin syndrome -MONDO:0015324 cataract-intellectual disability-anal atresia-urinary defects syndrome MONDO:0015246 Orphanet:1381 Orphanet:117573 obsolete syndromic anorectal malformation -MONDO:0015324 cataract-intellectual disability-anal atresia-urinary defects syndrome MONDO:0020225 Orphanet:1381 Orphanet:98641 obsolete syndromic cataract -MONDO:0015324 cataract-intellectual disability-anal atresia-urinary defects syndrome MONDO:0020253 Orphanet:1381 Orphanet:98683 obsolete syndrome with a symptomatic strabismus -MONDO:0015324 cataract-intellectual disability-anal atresia-urinary defects syndrome MONDO:0035863 Orphanet:1381 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0015324 cataract-intellectual disability-anal atresia-urinary defects syndrome MONDO:8000032 Orphanet:1381 Orphanet:377789 obsolete malformation syndrome -MONDO:0015325 cataract-deafness-hypogonadism syndrome MONDO:0019589 Orphanet:1383 Orphanet:90642 obsolete syndromic genetic hearing loss -MONDO:0015325 cataract-deafness-hypogonadism syndrome MONDO:0020225 Orphanet:1383 Orphanet:98641 obsolete syndromic cataract -MONDO:0015325 cataract-deafness-hypogonadism syndrome MONDO:0035863 Orphanet:1383 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0015325 cataract-deafness-hypogonadism syndrome MONDO:8000032 Orphanet:1383 Orphanet:377789 obsolete malformation syndrome -MONDO:0015326 night blindness-skeletal anomalies-dysmorphism syndrome MONDO:0043008 Orphanet:1390 Orphanet:330206 obsolete genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability -MONDO:0015326 night blindness-skeletal anomalies-dysmorphism syndrome MONDO:8000032 Orphanet:1390 Orphanet:377789 obsolete malformation syndrome -MONDO:0015327 developmental anomaly of metabolic origin MONDO:0015960 Orphanet:139009 Orphanet:183530 obsolete rare genetic developmental defect during embryogenesis -MONDO:0015328 obsolete rare bone development disorder MONDO:0019755 Orphanet:139012 Orphanet:93890 developmental defect during embryogenesis -MONDO:0015329 obsolete malformation syndrome with short stature MONDO:0019755 Orphanet:139021 Orphanet:93890 developmental defect during embryogenesis -MONDO:0015330 obsolete overgrowth/obesity syndrome MONDO:0019755 Orphanet:139024 Orphanet:93890 developmental defect during embryogenesis -MONDO:0015331 obsolete malformation syndrome with skin/mucosae involvement MONDO:0015960 Orphanet:139027 Orphanet:183530 obsolete rare genetic developmental defect during embryogenesis -MONDO:0015331 obsolete malformation syndrome with skin/mucosae involvement MONDO:0019755 Orphanet:139027 Orphanet:93890 developmental defect during embryogenesis -MONDO:0015332 obsolete rare developmental defect with connective tissue involvement MONDO:0015960 Orphanet:139030 Orphanet:183530 obsolete rare genetic developmental defect during embryogenesis -MONDO:0015332 obsolete rare developmental defect with connective tissue involvement MONDO:0019755 Orphanet:139030 Orphanet:93890 developmental defect during embryogenesis -MONDO:0015334 obsolete branchial arch or oral-acral syndrome MONDO:0019755 Orphanet:139036 Orphanet:93890 developmental defect during embryogenesis -MONDO:0015335 obsolete Mendelian syndromes with cleft lip/palate MONDO:0015501 Orphanet:139039 Orphanet:156237 obsolete syndrome or malformation associated with head and neck malformations -MONDO:0015336 obsolete malformation syndrome with odontal and/or periodontal component MONDO:0019755 Orphanet:139042 Orphanet:93890 developmental defect during embryogenesis -MONDO:0015336 obsolete malformation syndrome with odontal and/or periodontal component MONDO:0020013 Orphanet:139042 Orphanet:98026 obsolete rare odontologic disease -MONDO:0015339 adrenomyeloneuropathy MONDO:0016133 Orphanet:139399 Orphanet:207018 obsolete rare hereditary metabolic disease with peripheral neuropathy -MONDO:0015339 adrenomyeloneuropathy MONDO:8000031 Orphanet:139399 Orphanet:557494 obsolete subtype of a disorder -MONDO:0015341 congenital panfollicular nevus MONDO:0017414 Orphanet:139414 Orphanet:294057 obsolete rare nevus -MONDO:0015342 acute transverse myelitis MONDO:0015141 Orphanet:139417 Orphanet:102000 obsolete disorder of medulla oblongata -MONDO:0015344 idiopathic acute transverse myelitis MONDO:8000031 Orphanet:139423 Orphanet:557494 obsolete subtype of a disorder -MONDO:0015350 17q11.2 microduplication syndrome MONDO:0035863 Orphanet:139474 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0015350 17q11.2 microduplication syndrome MONDO:8000032 Orphanet:139474 Orphanet:377789 obsolete malformation syndrome -MONDO:0015351 neuropathy with hearing impairment MONDO:0015359 Orphanet:139512 Orphanet:140453 obsolete autosomal dominant hereditary demyelinating motor and sensory neuropathy -MONDO:0015351 neuropathy with hearing impairment MONDO:0019589 Orphanet:139512 Orphanet:90642 obsolete syndromic genetic hearing loss -MONDO:0015354 hereditary sensory and autonomic neuropathy with deafness and global delay MONDO:0015366 Orphanet:139573 Orphanet:140477 obsolete autosomal recessive hereditary sensory and autonomic neuropathy -MONDO:0015356 hereditary neoplastic syndrome MONDO:0016645 Orphanet:140162 Orphanet:250908 obsolete rare neoplastic disease -MONDO:0015356 hereditary neoplastic syndrome MONDO:0021198 Orphanet:140162 Orphanet:98053 obsolete rare genetic disease -MONDO:0015357 secondary hypoparathyroidism due to impaired parathormon secretion MONDO:0015896 Orphanet:140286 Orphanet:181405 obsolete rare hypoparathyroidism -MONDO:0015359 obsolete autosomal dominant hereditary demyelinating motor and sensory neuropathy MONDO:0018776 Orphanet:140453 Orphanet:476116 demyelinating hereditary motor and sensory neuropathy -MONDO:0015360 obsolete autosomal dominant hereditary axonal motor and sensory neuropathy MONDO:0018775 Orphanet:140456 Orphanet:476109 obsolete axonal hereditary motor and sensory neuropathy -MONDO:0015361 obsolete autosomal recessive hereditary demyelinating motor and sensory neuropathy MONDO:0018776 Orphanet:140459 Orphanet:476116 demyelinating hereditary motor and sensory neuropathy -MONDO:0015365 obsolete autosomal dominant hereditary sensory and autonomic neuropathy MONDO:0015364 Orphanet:140474 Orphanet:140471 hereditary sensory and autonomic neuropathy -MONDO:0015366 obsolete autosomal recessive hereditary sensory and autonomic neuropathy MONDO:0015364 Orphanet:140477 Orphanet:140471 hereditary sensory and autonomic neuropathy -MONDO:0015367 Charlie M syndrome MONDO:0015334 Orphanet:1406 Orphanet:139036 obsolete branchial arch or oral-acral syndrome -MONDO:0015367 Charlie M syndrome MONDO:0026189 Orphanet:1406 Orphanet:183576 obsolete genetic branchial arch or oral-acral syndrome -MONDO:0015367 Charlie M syndrome MONDO:0043008 Orphanet:1406 Orphanet:330206 obsolete genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability -MONDO:0015367 Charlie M syndrome MONDO:0800090 Orphanet:1406 Orphanet:498477 obsolete ectrodactyly with and without other manifestations -MONDO:0015367 Charlie M syndrome MONDO:8000032 Orphanet:1406 Orphanet:377789 obsolete malformation syndrome -MONDO:0015368 obsolete neuro-ophthalmological disease MONDO:0035001 Orphanet:140653 Orphanet:520814 obsolete rare disorder of the visual organs -MONDO:0015369 Joubert syndrome and related disorders MONDO:0034961 Orphanet:140874 Orphanet:519341 obsolete rare brainstem or cerebellar disorder with ophthalmic involvement as a major feature -MONDO:0015371 linear atrophoderma of Moulin MONDO:0018798 Orphanet:140933 Orphanet:477808 obsolete other genetic dermis disorder -MONDO:0015372 autosomal dominant macrothrombocytopenia MONDO:0016361 Orphanet:140957 Orphanet:220452 obsolete isolated hereditary giant platelet disorder -MONDO:0015374 primary central nervous system vasculitis MONDO:0015489 Orphanet:140989 Orphanet:156143 obsolete predominantly medium-vessel vasculitis -MONDO:0015374 primary central nervous system vasculitis MONDO:0015490 Orphanet:140989 Orphanet:156146 obsolete predominantly small-vessel vasculitis -MONDO:0015374 primary central nervous system vasculitis MONDO:0015953 Orphanet:140989 Orphanet:183503 obsolete genetic central nervous system and retinal vascular disease -MONDO:0015374 primary central nervous system vasculitis MONDO:0019110 Orphanet:140989 Orphanet:71281 obsolete rare central nervous system or retinal vascular disease -MONDO:0015375 orofaciodigital syndrome MONDO:0015334 Orphanet:140997 Orphanet:139036 obsolete branchial arch or oral-acral syndrome -MONDO:0015375 orofaciodigital syndrome MONDO:0015501 Orphanet:140997 Orphanet:156237 obsolete syndrome or malformation associated with head and neck malformations -MONDO:0015375 orofaciodigital syndrome MONDO:0017434 Orphanet:140997 Orphanet:294959 obsolete syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy -MONDO:0015375 orofaciodigital syndrome MONDO:0026189 Orphanet:140997 Orphanet:183576 obsolete genetic branchial arch or oral-acral syndrome -MONDO:0015375 orofaciodigital syndrome MONDO:0800085 Orphanet:140997 Orphanet:93453 obsolete dysostosis with predominant craniofacial involvement -MONDO:0015376 first branchial cleft anomaly MONDO:8000030 Orphanet:141013 Orphanet:377791 obsolete morphological anomaly -MONDO:0015377 third branchial cleft anomaly MONDO:8000030 Orphanet:141030 Orphanet:377791 obsolete morphological anomaly -MONDO:0015378 fourth branchial cleft anomaly MONDO:8000030 Orphanet:141037 Orphanet:377791 obsolete morphological anomaly -MONDO:0015379 cervical dermoid cyst MONDO:8000030 Orphanet:141046 Orphanet:377791 obsolete morphological anomaly -MONDO:0015380 facial dermoid cyst MONDO:8000030 Orphanet:141051 Orphanet:377791 obsolete morphological anomaly -MONDO:0015381 commissural lip fistula MONDO:8000030 Orphanet:141061 Orphanet:377791 obsolete morphological anomaly -MONDO:0015382 lower lip fistula MONDO:8000030 Orphanet:141064 Orphanet:377791 obsolete morphological anomaly -MONDO:0015383 cervicofacial fibrochondroma MONDO:8000030 Orphanet:141067 Orphanet:377791 obsolete morphological anomaly -MONDO:0015384 digestive duplication cyst of the tongue MONDO:8000030 Orphanet:141071 Orphanet:377791 obsolete morphological anomaly -MONDO:0015385 obsolete external auditory canal aplasia/hypoplasia MONDO:0015502 Orphanet:141074 Orphanet:156243 obsolete pinnae and external auditory canal anomaly -MONDO:0015385 obsolete external auditory canal aplasia/hypoplasia MONDO:8000030 Orphanet:141074 Orphanet:377791 obsolete morphological anomaly -MONDO:0015386 epignathus MONDO:0020035 Orphanet:141077 Orphanet:98061 obsolete rare otorhinolaryngologic tumor -MONDO:0015386 epignathus MONDO:8000031 Orphanet:141077 Orphanet:557494 obsolete subtype of a disorder -MONDO:0015387 nasolacrimal duct cyst MONDO:0015503 Orphanet:141083 Orphanet:156246 obsolete nose and cavum anomaly -MONDO:0015387 nasolacrimal duct cyst MONDO:0020195 Orphanet:141083 Orphanet:98605 obsolete excretory apparatus of the lacrimal system anomaly -MONDO:0015387 nasolacrimal duct cyst MONDO:8000030 Orphanet:141083 Orphanet:377791 obsolete morphological anomaly -MONDO:0015388 polyrrhinia MONDO:0015503 Orphanet:141091 Orphanet:156246 obsolete nose and cavum anomaly -MONDO:0015388 polyrrhinia MONDO:8000032 Orphanet:141091 Orphanet:377789 obsolete malformation syndrome -MONDO:0015389 supernumerary nostril MONDO:0015503 Orphanet:141096 Orphanet:156246 obsolete nose and cavum anomaly -MONDO:0015389 supernumerary nostril MONDO:8000032 Orphanet:141096 Orphanet:377789 obsolete malformation syndrome -MONDO:0015390 proboscis lateralis MONDO:0015503 Orphanet:141099 Orphanet:156246 obsolete nose and cavum anomaly -MONDO:0015390 proboscis lateralis MONDO:8000032 Orphanet:141099 Orphanet:377789 obsolete malformation syndrome -MONDO:0015391 nasopharyngeal teratoma MONDO:0020035 Orphanet:141107 Orphanet:98061 obsolete rare otorhinolaryngologic tumor -MONDO:0015391 nasopharyngeal teratoma MONDO:8000031 Orphanet:141107 Orphanet:557494 obsolete subtype of a disorder -MONDO:0015392 nasal glial heterotopia MONDO:0015503 Orphanet:141112 Orphanet:156246 obsolete nose and cavum anomaly -MONDO:0015392 nasal glial heterotopia MONDO:0020035 Orphanet:141112 Orphanet:98061 obsolete rare otorhinolaryngologic tumor -MONDO:0015393 nasal ganglioglioma MONDO:0020035 Orphanet:141115 Orphanet:98061 obsolete rare otorhinolaryngologic tumor -MONDO:0015393 nasal ganglioglioma MONDO:8000031 Orphanet:141115 Orphanet:557494 obsolete subtype of a disorder -MONDO:0015394 nasal encephalocele MONDO:0015503 Orphanet:141118 Orphanet:156246 obsolete nose and cavum anomaly -MONDO:0015394 nasal encephalocele MONDO:8000031 Orphanet:141118 Orphanet:557494 obsolete subtype of a disorder -MONDO:0015395 congenital subglottic stenosis MONDO:0015504 Orphanet:141121 Orphanet:156249 obsolete larynx anomaly -MONDO:0015395 congenital subglottic stenosis MONDO:8000032 Orphanet:141121 Orphanet:377789 obsolete malformation syndrome -MONDO:0015396 congenital laryngeal cyst MONDO:0015504 Orphanet:141124 Orphanet:156249 obsolete larynx anomaly -MONDO:0015396 congenital laryngeal cyst MONDO:8000030 Orphanet:141124 Orphanet:377791 obsolete morphological anomaly -MONDO:0015397 craniofacial microsomia 1 MONDO:0015334 Orphanet:141132 Orphanet:139036 obsolete branchial arch or oral-acral syndrome -MONDO:0015397 craniofacial microsomia 1 MONDO:0015482 Orphanet:141132 Orphanet:155896 obsolete otomandibular dysplasia -MONDO:0015397 craniofacial microsomia 1 MONDO:0026189 Orphanet:141132 Orphanet:183576 obsolete genetic branchial arch or oral-acral syndrome -MONDO:0015397 craniofacial microsomia 1 MONDO:0043008 Orphanet:141132 Orphanet:330206 obsolete genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability -MONDO:0015397 craniofacial microsomia 1 MONDO:8000032 Orphanet:141132 Orphanet:377789 obsolete malformation syndrome -MONDO:0015399 glossopalatine ankylosis MONDO:8000032 Orphanet:141163 Orphanet:377789 obsolete malformation syndrome -MONDO:0015400 frontonasal arteriovenous malformation MONDO:8000032 Orphanet:141168 Orphanet:377789 obsolete malformation syndrome -MONDO:0015401 maxillary arteriovenous malformation MONDO:8000032 Orphanet:141171 Orphanet:377789 obsolete malformation syndrome -MONDO:0015402 mandibular arteriovenous malformation MONDO:8000032 Orphanet:141174 Orphanet:377789 obsolete malformation syndrome -MONDO:0015405 cerebrofacial arteriovenous metameric syndrome MONDO:0015145 Orphanet:141189 Orphanet:102006 obsolete neurovascular malformation -MONDO:0015405 cerebrofacial arteriovenous metameric syndrome MONDO:0016234 Orphanet:141189 Orphanet:211266 obsolete rare arteriovenous malformation -MONDO:0015406 cerebrofacial arteriovenous metameric syndrome type 1 MONDO:8000032 Orphanet:141194 Orphanet:377789 obsolete malformation syndrome -MONDO:0015407 cerebrofacial arteriovenous metameric syndrome type 3 MONDO:8000032 Orphanet:141199 Orphanet:377789 obsolete malformation syndrome -MONDO:0015408 diffuse lymphatic malformation MONDO:8000032 Orphanet:141209 Orphanet:377789 obsolete malformation syndrome -MONDO:0015409 isolated congenital syngnathia MONDO:0015501 Orphanet:141214 Orphanet:156237 obsolete syndrome or malformation associated with head and neck malformations -MONDO:0015409 isolated congenital syngnathia MONDO:8000032 Orphanet:141214 Orphanet:377789 obsolete malformation syndrome -MONDO:0015410 nasal dorsum fistula/cyst MONDO:8000030 Orphanet:141219 Orphanet:377791 obsolete morphological anomaly -MONDO:0015411 facial cleft MONDO:0015475 Orphanet:141229 Orphanet:155832 obsolete rare head and neck malformation -MONDO:0015411 facial cleft MONDO:0019038 Orphanet:141229 Orphanet:68329 obsolete rare maxillo-facial surgical disease -MONDO:0015412 obsolete median facial cleft MONDO:0015411 Orphanet:141234 Orphanet:141229 facial cleft -MONDO:0015413 median cleft of the upper lip and maxilla MONDO:0015412 Orphanet:141239 Orphanet:141234 obsolete median facial cleft -MONDO:0015413 median cleft of the upper lip and maxilla MONDO:8000030 Orphanet:141239 Orphanet:377791 obsolete morphological anomaly -MONDO:0015414 paramedian nasal cleft MONDO:0015478 Orphanet:141242 Orphanet:155867 obsolete paramedian facial cleft -MONDO:0015414 paramedian nasal cleft MONDO:8000030 Orphanet:141242 Orphanet:377791 obsolete morphological anomaly -MONDO:0015415 obsolete oblique facial cleft MONDO:0015411 Orphanet:141253 Orphanet:141229 facial cleft -MONDO:0015416 Tessier number 5 facial cleft MONDO:0015415 Orphanet:141261 Orphanet:141253 obsolete oblique facial cleft -MONDO:0015416 Tessier number 5 facial cleft MONDO:8000030 Orphanet:141261 Orphanet:377791 obsolete morphological anomaly -MONDO:0015417 Tessier number 6 facial cleft MONDO:0015415 Orphanet:141265 Orphanet:141253 obsolete oblique facial cleft -MONDO:0015417 Tessier number 6 facial cleft MONDO:8000030 Orphanet:141265 Orphanet:377791 obsolete morphological anomaly -MONDO:0015418 obsolete lateral facial cleft MONDO:0015411 Orphanet:141269 Orphanet:141229 facial cleft -MONDO:0015418 obsolete lateral facial cleft MONDO:0033056 Orphanet:141269 Orphanet:414726 obsolete genetic facial cleft -MONDO:0015419 midline cervical cleft MONDO:0015412 Orphanet:141288 Orphanet:141234 obsolete median facial cleft -MONDO:0015419 midline cervical cleft MONDO:8000030 Orphanet:141288 Orphanet:377791 obsolete morphological anomaly -MONDO:0015420 cleft lip and alveolus MONDO:0016034 Orphanet:141291 Orphanet:1991 obsolete cleft lip with or without cleft palate -MONDO:0015420 cleft lip and alveolus MONDO:8000030 Orphanet:141291 Orphanet:377791 obsolete morphological anomaly -MONDO:0015421 orofaciodigital syndrome type 12 MONDO:8000032 Orphanet:141327 Orphanet:377789 obsolete malformation syndrome -MONDO:0015422 orofaciodigital syndrome type 13 MONDO:8000032 Orphanet:141330 Orphanet:377789 obsolete malformation syndrome -MONDO:0015425 lethal recessive chondrodysplasia MONDO:0019718 Orphanet:1423 Orphanet:93465 obsolete lethal chondrodysplasia -MONDO:0015425 lethal recessive chondrodysplasia MONDO:8000032 Orphanet:1423 Orphanet:377789 obsolete malformation syndrome -MONDO:0015426 Desbuquois dysplasia MONDO:0015332 Orphanet:1425 Orphanet:139030 obsolete rare developmental defect with connective tissue involvement -MONDO:0015426 Desbuquois dysplasia MONDO:0020222 Orphanet:1425 Orphanet:98638 obsolete rare disease with glaucoma as a major feature -MONDO:0015426 Desbuquois dysplasia MONDO:0800086 Orphanet:1425 Orphanet:93441 obsolete primary bone dysplasia with multiple joint dislocations -MONDO:0015426 Desbuquois dysplasia MONDO:8000032 Orphanet:1425 Orphanet:377789 obsolete malformation syndrome -MONDO:0015428 choroidal atrophy-alopecia syndrome MONDO:8000032 Orphanet:1433 Orphanet:377789 obsolete malformation syndrome -MONDO:0015430 ring chromosome 1 MONDO:0018186 Orphanet:1437 Orphanet:363203 obsolete ring chromosome -MONDO:0015430 ring chromosome 1 MONDO:8000032 Orphanet:1437 Orphanet:377789 obsolete malformation syndrome -MONDO:0015431 ring chromosome 10 MONDO:0018186 Orphanet:1438 Orphanet:363203 obsolete ring chromosome -MONDO:0015431 ring chromosome 10 MONDO:0035863 Orphanet:1438 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0015431 ring chromosome 10 MONDO:8000032 Orphanet:1438 Orphanet:377789 obsolete malformation syndrome -MONDO:0015432 ring chromosome 12 MONDO:0018186 Orphanet:1439 Orphanet:363203 obsolete ring chromosome -MONDO:0015432 ring chromosome 12 MONDO:8000032 Orphanet:1439 Orphanet:377789 obsolete malformation syndrome -MONDO:0015433 ring chromosome 17 MONDO:0018186 Orphanet:1441 Orphanet:363203 obsolete ring chromosome -MONDO:0015433 ring chromosome 17 MONDO:8000032 Orphanet:1441 Orphanet:377789 obsolete malformation syndrome -MONDO:0015434 ring chromosome 18 MONDO:0018186 Orphanet:1442 Orphanet:363203 obsolete ring chromosome -MONDO:0015434 ring chromosome 18 MONDO:8000032 Orphanet:1442 Orphanet:377789 obsolete malformation syndrome -MONDO:0015435 ring chromosome 19 MONDO:0018186 Orphanet:1443 Orphanet:363203 obsolete ring chromosome -MONDO:0015435 ring chromosome 19 MONDO:8000032 Orphanet:1443 Orphanet:377789 obsolete malformation syndrome -MONDO:0015436 ring chromosome 20 MONDO:0015652 Orphanet:1444 Orphanet:166469 obsolete chromosomal anomaly with epilepsy as a major feature -MONDO:0015436 ring chromosome 20 MONDO:0018186 Orphanet:1444 Orphanet:363203 obsolete ring chromosome -MONDO:0015436 ring chromosome 20 MONDO:8000032 Orphanet:1444 Orphanet:377789 obsolete malformation syndrome -MONDO:0015437 ring chromosome 21 MONDO:0018186 Orphanet:1445 Orphanet:363203 obsolete ring chromosome -MONDO:0015437 ring chromosome 21 MONDO:8000032 Orphanet:1445 Orphanet:377789 obsolete malformation syndrome -MONDO:0015438 ring chromosome 22 MONDO:0018186 Orphanet:1446 Orphanet:363203 obsolete ring chromosome -MONDO:0015438 ring chromosome 22 MONDO:8000032 Orphanet:1446 Orphanet:377789 obsolete malformation syndrome -MONDO:0015439 ring chromosome 4 MONDO:0018186 Orphanet:1447 Orphanet:363203 obsolete ring chromosome -MONDO:0015439 ring chromosome 4 MONDO:8000032 Orphanet:1447 Orphanet:377789 obsolete malformation syndrome -MONDO:0015440 ring chromosome 6 MONDO:0018186 Orphanet:1448 Orphanet:363203 obsolete ring chromosome -MONDO:0015440 ring chromosome 6 MONDO:8000032 Orphanet:1448 Orphanet:377789 obsolete malformation syndrome -MONDO:0015441 ring chromosome 7 MONDO:0018186 Orphanet:1449 Orphanet:363203 obsolete ring chromosome -MONDO:0015441 ring chromosome 7 MONDO:8000032 Orphanet:1449 Orphanet:377789 obsolete malformation syndrome -MONDO:0015443 chromosome 8-derived supernumerary ring/marker MONDO:0018186 Orphanet:1450 Orphanet:363203 obsolete ring chromosome -MONDO:0015443 chromosome 8-derived supernumerary ring/marker MONDO:8000032 Orphanet:1450 Orphanet:377789 obsolete malformation syndrome -MONDO:0015445 autosomal dominant coarctation of aorta MONDO:8000031 Orphanet:1455 Orphanet:557494 obsolete subtype of a disorder -MONDO:0015446 atypical coarctation of aorta MONDO:8000031 Orphanet:1456 Orphanet:557494 obsolete subtype of a disorder -MONDO:0015448 mitochondrial complex III deficiency MONDO:0016805 Orphanet:1460 Orphanet:254846 obsolete isolated oxidative phosphorylation complex disorder -MONDO:0015448 mitochondrial complex III deficiency MONDO:0035862 Orphanet:1460 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome -MONDO:0015449 criss-cross heart MONDO:8000030 Orphanet:1461 Orphanet:377791 obsolete morphological anomaly -MONDO:0015450 triatrial heart MONDO:0020294 Orphanet:1463 Orphanet:98727 obsolete atrial defect and interatrial communication -MONDO:0015451 univentricular heart MONDO:8000030 Orphanet:1464 Orphanet:377791 obsolete morphological anomaly -MONDO:0015452 Coffin-Siris syndrome MONDO:0035863 Orphanet:1465 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0015452 Coffin-Siris syndrome MONDO:0800094 Orphanet:1465 Orphanet:498454 obsolete dysostosis with brachydactyly with extraskeletal manifestations -MONDO:0015452 Coffin-Siris syndrome MONDO:8000032 Orphanet:1465 Orphanet:377789 obsolete malformation syndrome -MONDO:0015453 Cogan syndrome MONDO:0015488 Orphanet:1467 Orphanet:156140 obsolete predominantly large-vessel vasculitis -MONDO:0015453 Cogan syndrome MONDO:0020017 Orphanet:1467 Orphanet:98036 obsolete rare otorhinolaryngologic disease -MONDO:0015454 multiple carboxylase deficiency MONDO:0019252 Orphanet:148 Orphanet:79217 obsolete other metabolic disease with skin involvement -MONDO:0015455 gonococcal conjunctivitis MONDO:0034931 Orphanet:1482 Orphanet:519280 obsolete rare conjunctivitis -MONDO:0015458 intellectual disability-hypoplastic corpus callosum-preauricular tag syndrome MONDO:0016055 Orphanet:1495 Orphanet:199639 obsolete syndrome with corpus callosum agenesis /dysgenesis as a major feature -MONDO:0015458 intellectual disability-hypoplastic corpus callosum-preauricular tag syndrome MONDO:0017122 Orphanet:1495 Orphanet:269573 obsolete genetic syndrome with corpus callosum agenesis/dysgenesis as a major feature -MONDO:0015458 intellectual disability-hypoplastic corpus callosum-preauricular tag syndrome MONDO:0035863 Orphanet:1495 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0015458 intellectual disability-hypoplastic corpus callosum-preauricular tag syndrome MONDO:8000032 Orphanet:1495 Orphanet:377789 obsolete malformation syndrome -MONDO:0015459 nasopharyngeal carcinoma MONDO:0020034 Orphanet:150 Orphanet:98060 obsolete rare respiratory tract neoplasm -MONDO:0015459 nasopharyngeal carcinoma MONDO:0020035 Orphanet:150 Orphanet:98061 obsolete rare otorhinolaryngologic tumor -MONDO:0015462 thin ribs-tubular bones-dysmorphism syndrome MONDO:0019699 Orphanet:1506 Orphanet:93440 obsolete slender bone dysplasia -MONDO:0015462 thin ribs-tubular bones-dysmorphism syndrome MONDO:8000032 Orphanet:1506 Orphanet:377789 obsolete malformation syndrome -MONDO:0015463 craniodigital syndrome-intellectual disability syndrome MONDO:0035863 Orphanet:1514 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0015463 craniodigital syndrome-intellectual disability syndrome MONDO:8000032 Orphanet:1514 Orphanet:377789 obsolete malformation syndrome -MONDO:0015464 craniofrontonasal dysplasia-Poland anomaly syndrome MONDO:8000032 Orphanet:1521 Orphanet:377789 obsolete malformation syndrome -MONDO:0015465 craniometaphyseal dysplasia MONDO:0020018 Orphanet:1522 Orphanet:98038 obsolete cranial malformation -MONDO:0015465 craniometaphyseal dysplasia MONDO:0026182 Orphanet:1522 Orphanet:183542 obsolete genetic cranial malformation -MONDO:0015465 craniometaphyseal dysplasia MONDO:0800084 Orphanet:1522 Orphanet:93444 obsolete primary bone dysplasia with increased bone density -MONDO:0015465 craniometaphyseal dysplasia MONDO:8000032 Orphanet:1522 Orphanet:377789 obsolete malformation syndrome -MONDO:0015466 cranio-osteoarthropathy MONDO:8000032 Orphanet:1525 Orphanet:377789 obsolete malformation syndrome -MONDO:0015467 craniosynostosis, Philadelphia type MONDO:0017434 Orphanet:1527 Orphanet:294959 obsolete syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy -MONDO:0015467 craniosynostosis, Philadelphia type MONDO:8000032 Orphanet:1527 Orphanet:377789 obsolete malformation syndrome -MONDO:0015469 craniosynostosis MONDO:0018454 Orphanet:1531 Orphanet:404568 obsolete dysostosis of genetic origin -MONDO:0015469 craniosynostosis MONDO:0020018 Orphanet:1531 Orphanet:98038 obsolete cranial malformation -MONDO:0015469 craniosynostosis MONDO:0026182 Orphanet:1531 Orphanet:183542 obsolete genetic cranial malformation MONDO:0015470 obsolete familial isolated dilated cardiomyopathy MONDO:0000001 Orphanet:154 Orphanet:377788 disease -MONDO:0015470 obsolete familial isolated dilated cardiomyopathy MONDO:0016147 Orphanet:154 Orphanet:207085 qualitative or quantitative defects of dystrophin -MONDO:0015470 obsolete familial isolated dilated cardiomyopathy MONDO:0016333 Orphanet:154 Orphanet:217607 familial dilated cardiomyopathy -MONDO:0015473 cryptorchidism-arachnodactyly-intellectual disability syndrome MONDO:0020253 Orphanet:1548 Orphanet:98683 obsolete syndrome with a symptomatic strabismus -MONDO:0015473 cryptorchidism-arachnodactyly-intellectual disability syndrome MONDO:0035863 Orphanet:1548 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0015473 cryptorchidism-arachnodactyly-intellectual disability syndrome MONDO:8000032 Orphanet:1548 Orphanet:377789 obsolete malformation syndrome -MONDO:0015475 obsolete rare head and neck malformation MONDO:0019755 Orphanet:155832 Orphanet:93890 developmental defect during embryogenesis -MONDO:0015476 cysts and fistulae of the face and oral cavity MONDO:0019936 Orphanet:155835 Orphanet:96333 obsolete rare otorhinolaryngological malformation -MONDO:0015477 pinnae fistula or cyst MONDO:8000030 Orphanet:155838 Orphanet:377791 obsolete morphological anomaly -MONDO:0015478 obsolete paramedian facial cleft MONDO:0015411 Orphanet:155867 Orphanet:141229 facial cleft -MONDO:0015479 submucosal cleft palate MONDO:8000030 Orphanet:155878 Orphanet:377791 obsolete morphological anomaly -MONDO:0015480 coloboma of superior eyelid MONDO:0015415 Orphanet:155884 Orphanet:141253 obsolete oblique facial cleft -MONDO:0015480 coloboma of superior eyelid MONDO:8000030 Orphanet:155884 Orphanet:377791 obsolete morphological anomaly -MONDO:0015481 coloboma of inferior eyelid MONDO:0015415 Orphanet:155889 Orphanet:141253 obsolete oblique facial cleft -MONDO:0015481 coloboma of inferior eyelid MONDO:8000030 Orphanet:155889 Orphanet:377791 obsolete morphological anomaly -MONDO:0015482 obsolete otomandibular dysplasia MONDO:0015961 Orphanet:155896 Orphanet:183583 obsolete hereditary head and neck malformation -MONDO:0015482 obsolete otomandibular dysplasia MONDO:0019038 Orphanet:155896 Orphanet:68329 obsolete rare maxillo-facial surgical disease -MONDO:0015482 obsolete otomandibular dysplasia MONDO:0019936 Orphanet:155896 Orphanet:96333 obsolete rare otorhinolaryngological malformation -MONDO:0015482 obsolete otomandibular dysplasia MONDO:0800085 Orphanet:155896 Orphanet:93453 obsolete dysostosis with predominant craniofacial involvement -MONDO:0015483 mandibulofacial dysostosis MONDO:0015482 Orphanet:155899 Orphanet:155896 obsolete otomandibular dysplasia -MONDO:0015484 cysticercosis MONDO:0015577 Orphanet:1560 Orphanet:163588 obsolete rare parasitic disease -MONDO:0015485 obsolete primary hereditary glaucoma MONDO:0018174 Orphanet:156005 Orphanet:359 hereditary glaucoma -MONDO:0015485 obsolete primary hereditary glaucoma MONDO:0020145 Orphanet:156005 Orphanet:98553 obsolete developmental defect of the eye -MONDO:0015485 obsolete primary hereditary glaucoma MONDO:0026186 Orphanet:156005 Orphanet:183557 obsolete genetic developmental defect of the eye -MONDO:0015487 fatal infantile encephalocardiomyopathy MONDO:0016578 Orphanet:1561 Orphanet:2443 obsolete mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies -MONDO:0015487 fatal infantile encephalocardiomyopathy MONDO:0035862 Orphanet:1561 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome -MONDO:0015488 obsolete predominantly large-vessel vasculitis MONDO:0018882 Orphanet:156140 Orphanet:52759 vasculitis -MONDO:0015489 obsolete predominantly medium-vessel vasculitis MONDO:0018882 Orphanet:156143 Orphanet:52759 vasculitis -MONDO:0015490 obsolete predominantly small-vessel vasculitis MONDO:0018882 Orphanet:156146 Orphanet:52759 vasculitis -MONDO:0015491 immune complex mediated vasculitis MONDO:0015490 Orphanet:156149 Orphanet:156146 obsolete predominantly small-vessel vasculitis -MONDO:0015492 anti-neutrophil cytoplasmic antibody-associated vasculitis MONDO:0015490 Orphanet:156152 Orphanet:156146 obsolete predominantly small-vessel vasculitis -MONDO:0015492 anti-neutrophil cytoplasmic antibody-associated vasculitis MONDO:0017038 Orphanet:156152 Orphanet:264973 obsolete secondary interstitial lung disease in childhood and adulthood associated with a systemic vasculitis -MONDO:0015494 isolated dystonia MONDO:0019049 Orphanet:156159 Orphanet:68363 obsolete rare dystonia -MONDO:0015495 obsolete otomandibular dysplasia associated with monogenic syndromes MONDO:0015482 Orphanet:156202 Orphanet:155896 obsolete otomandibular dysplasia -MONDO:0015496 macroglossia MONDO:0015475 Orphanet:156207 Orphanet:155832 obsolete rare head and neck malformation -MONDO:0015496 macroglossia MONDO:0015961 Orphanet:156207 Orphanet:183583 obsolete hereditary head and neck malformation -MONDO:0015496 macroglossia MONDO:0019038 Orphanet:156207 Orphanet:68329 obsolete rare maxillo-facial surgical disease -MONDO:0015497 obsolete hypoglossia/aglossia MONDO:0015475 Orphanet:156212 Orphanet:155832 obsolete rare head and neck malformation -MONDO:0015497 obsolete hypoglossia/aglossia MONDO:0015961 Orphanet:156212 Orphanet:183583 obsolete hereditary head and neck malformation -MONDO:0015497 obsolete hypoglossia/aglossia MONDO:0019038 Orphanet:156212 Orphanet:68329 obsolete rare maxillo-facial surgical disease -MONDO:0015498 oromandibular-limb anomalies syndrome MONDO:0015497 Orphanet:156215 Orphanet:156212 obsolete hypoglossia/aglossia -MONDO:0015499 obsolete paralytic facial malformation MONDO:0015475 Orphanet:156224 Orphanet:155832 obsolete rare head and neck malformation -MONDO:0015499 obsolete paralytic facial malformation MONDO:0015961 Orphanet:156224 Orphanet:183583 obsolete hereditary head and neck malformation -MONDO:0015499 obsolete paralytic facial malformation MONDO:0019038 Orphanet:156224 Orphanet:68329 obsolete rare maxillo-facial surgical disease -MONDO:0015500 facial arteriovenous malformation MONDO:0016234 Orphanet:156230 Orphanet:211266 obsolete rare arteriovenous malformation -MONDO:0015501 obsolete syndrome or malformation associated with head and neck malformations MONDO:0015475 Orphanet:156237 Orphanet:155832 obsolete rare head and neck malformation -MONDO:0015501 obsolete syndrome or malformation associated with head and neck malformations MONDO:0015961 Orphanet:156237 Orphanet:183583 obsolete hereditary head and neck malformation -MONDO:0015501 obsolete syndrome or malformation associated with head and neck malformations MONDO:0019038 Orphanet:156237 Orphanet:68329 obsolete rare maxillo-facial surgical disease -MONDO:0015501 obsolete syndrome or malformation associated with head and neck malformations MONDO:0020017 Orphanet:156237 Orphanet:98036 obsolete rare otorhinolaryngologic disease -MONDO:0015502 obsolete pinnae and external auditory canal anomaly MONDO:0018562 Orphanet:156243 Orphanet:435603 obsolete hereditary otorhinolaryngological malformation -MONDO:0015502 obsolete pinnae and external auditory canal anomaly MONDO:0019936 Orphanet:156243 Orphanet:96333 obsolete rare otorhinolaryngological malformation -MONDO:0015503 obsolete nose and cavum anomaly MONDO:0019936 Orphanet:156246 Orphanet:96333 obsolete rare otorhinolaryngological malformation -MONDO:0015504 obsolete larynx anomaly MONDO:0019936 Orphanet:156249 Orphanet:96333 obsolete rare otorhinolaryngological malformation -MONDO:0015505 obsolete tracheal anomaly MONDO:0019936 Orphanet:156252 Orphanet:96333 obsolete rare otorhinolaryngological malformation -MONDO:0015506 obsolete rare syndrome with cardiac malformations MONDO:0020003 Orphanet:156532 Orphanet:97965 obsolete rare surgical cardiac disease -MONDO:0015506 obsolete rare syndrome with cardiac malformations MONDO:0020029 Orphanet:156532 Orphanet:98054 obsolete rare genetic cardiac disease -MONDO:0015507 obsolete rare genetic hepatic disease MONDO:0021198 Orphanet:156601 Orphanet:98053 obsolete rare genetic disease -MONDO:0015508 obsolete hereditary parenchymatous liver disease MONDO:0015507 Orphanet:156604 Orphanet:156601 obsolete rare genetic hepatic disease -MONDO:0015509 obsolete hereditary biliary tract disease MONDO:0015507 Orphanet:156607 Orphanet:156601 obsolete rare genetic hepatic disease -MONDO:0015510 obsolete rare genetic respiratory disease MONDO:0021198 Orphanet:156610 Orphanet:98053 obsolete rare genetic disease -MONDO:0015511 obsolete rare genetic urogenital disease MONDO:0021198 Orphanet:156619 Orphanet:98053 obsolete rare genetic disease -MONDO:0015512 obsolete genetic hypertension MONDO:0019748 Orphanet:156629 Orphanet:93618 obsolete rare cause of hypertension -MONDO:0015512 obsolete genetic hypertension MONDO:0020030 Orphanet:156629 Orphanet:98056 obsolete rare genetic renal disease -MONDO:0015513 obsolete rare genetic endocrine disease MONDO:0021198 Orphanet:156638 Orphanet:98053 obsolete rare genetic disease -MONDO:0015514 hereditary endocrine growth disease MONDO:0015513 Orphanet:156643 Orphanet:156638 obsolete rare genetic endocrine disease -MONDO:0015515 carnitine palmitoyltransferase II deficiency MONDO:0016117 Orphanet:157 Orphanet:206953 obsolete muscular lipidosis -MONDO:0015516 symbrachydactyly of hands and feet MONDO:0800093 Orphanet:1570 Orphanet:498451 obsolete dysostosis with brachydactyly without extraskeletal manifestations -MONDO:0015516 symbrachydactyly of hands and feet MONDO:8000032 Orphanet:1570 Orphanet:377789 obsolete malformation syndrome -MONDO:0015517 common variable immunodeficiency MONDO:0015132 Orphanet:1572 Orphanet:101977 obsolete immunodeficiency predominantly affecting antibody production -MONDO:0015518 infantile bilateral striatal necrosis MONDO:0015918 Orphanet:1576 Orphanet:182070 obsolete rare neurodegenerative disease -MONDO:0015518 infantile bilateral striatal necrosis MONDO:0017641 Orphanet:1576 Orphanet:306695 obsolete miscellaneous movement disorder due to neurodegenerative disease -MONDO:0015518 infantile bilateral striatal necrosis MONDO:0017662 Orphanet:1576 Orphanet:307058 obsolete miscellaneous movement disorder due to genetic neurodegenerative disease -MONDO:0015518 infantile bilateral striatal necrosis MONDO:0035862 Orphanet:1576 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome -MONDO:0015519 congenital or early infantile CACH syndrome MONDO:8000031 Orphanet:157713 Orphanet:557494 obsolete subtype of a disorder -MONDO:0015520 late infantile CACH syndrome MONDO:8000031 Orphanet:157716 Orphanet:557494 obsolete subtype of a disorder -MONDO:0015521 juvenile or adult CACH syndrome MONDO:8000031 Orphanet:157719 Orphanet:557494 obsolete subtype of a disorder -MONDO:0015523 epithelioid hemangioendothelioma MONDO:0016228 Orphanet:157791 Orphanet:211237 obsolete rare vascular tumor -MONDO:0015523 epithelioid hemangioendothelioma MONDO:0018729 Orphanet:157791 Orphanet:459543 obsolete genetic vascular tumor -MONDO:0015524 hyperplastic polyposis syndrome MONDO:0018188 Orphanet:157798 Orphanet:363314 obsolete hereditary intestinal polyposis -MONDO:0015525 congenital pseudoarthrosis of the limbs MONDO:0015227 Orphanet:157808 Orphanet:109011 obsolete non-syndromic limb malformation -MONDO:0015525 congenital pseudoarthrosis of the limbs MONDO:0018235 Orphanet:157808 Orphanet:364568 obsolete dysostosis with limb anomaly as a major feature -MONDO:0015525 congenital pseudoarthrosis of the limbs MONDO:0018455 Orphanet:157808 Orphanet:404571 obsolete dysostosis of genetic origin with limb anomaly as a major feature -MONDO:0015525 congenital pseudoarthrosis of the limbs MONDO:8000030 Orphanet:157808 Orphanet:377791 obsolete morphological anomaly -MONDO:0015528 congenital epulis MONDO:0019099 Orphanet:157826 Orphanet:71209 obsolete rare soft tissue tumor -MONDO:0015530 trigeminal autonomic cephalalgia MONDO:0020011 Orphanet:157843 Orphanet:98022 obsolete rare headache disorder -MONDO:0015531 non-Langerhans cell histiocytosis MONDO:0017368 Orphanet:157987 Orphanet:290836 obsolete systemic disease with skin involvement -MONDO:0015540 hemophagocytic syndrome MONDO:0020008 Orphanet:158032 Orphanet:98004 obsolete rare immune disease -MONDO:0015541 hereditary hemophagocytic lymphohistiocytosis MONDO:0015144 Orphanet:540 Orphanet:102005 obsolete brain inflammatory disease -MONDO:0015541 hereditary hemophagocytic lymphohistiocytosis MONDO:0015710 Orphanet:158038 Orphanet:169361 obsolete immune dysregulation disease with immunodeficiency -MONDO:0015544 acquired hemophagocytic lymphohistiocytosis associated with malignant disease MONDO:0032014 Orphanet:158057 Orphanet:377793 obsolete particular clinical situation in a disease or syndrome -MONDO:0015545 macrophage activation syndrome MONDO:0032013 Orphanet:158061 Orphanet:377792 obsolete clinical syndrome -MONDO:0015546 non-distal monosomy 10q MONDO:0020253 Orphanet:1581 Orphanet:98683 obsolete syndrome with a symptomatic strabismus -MONDO:0015546 non-distal monosomy 10q MONDO:8000032 Orphanet:1581 Orphanet:377789 obsolete malformation syndrome -MONDO:0015547 hereditary dementia MONDO:0019117 Orphanet:158124 Orphanet:71859 obsolete genetic nervous system disorder -MONDO:0015548 Huntington disease-like syndrome MONDO:0019515 Orphanet:158266 Orphanet:89043 obsolete rare dementia -MONDO:0015549 obsolete rare genetic hematologic disease MONDO:0021198 Orphanet:158300 Orphanet:98053 obsolete rare genetic disease -MONDO:0015552 acral dystrophic epidermolysis bullosa MONDO:8000031 Orphanet:158673 Orphanet:557494 obsolete subtype of a disorder -MONDO:0015553 dystrophic epidermolysis bullosa, nails only MONDO:8000031 Orphanet:158676 Orphanet:557494 obsolete subtype of a disorder -MONDO:0015554 typical urticaria pigmentosa MONDO:8000031 Orphanet:158766 Orphanet:557494 obsolete subtype of a disorder -MONDO:0015555 plaque-form urticaria pigmentosa MONDO:8000031 Orphanet:158769 Orphanet:557494 obsolete subtype of a disorder -MONDO:0015556 nodular urticaria pigmentosa MONDO:8000031 Orphanet:158772 Orphanet:557494 obsolete subtype of a disorder -MONDO:0015562 distal monosomy 17q MONDO:8000032 Orphanet:1597 Orphanet:377789 obsolete malformation syndrome -MONDO:0015565 cap polyposis MONDO:0015187 Orphanet:160148 Orphanet:104012 obsolete rare inflammatory bowel disease -MONDO:0015566 2q24 microdeletion syndrome MONDO:0020226 Orphanet:1617 Orphanet:98642 obsolete chromosomal anomaly with cataract -MONDO:0015566 2q24 microdeletion syndrome MONDO:8000032 Orphanet:1617 Orphanet:377789 obsolete malformation syndrome -MONDO:0015567 cataract-glaucoma syndrome MONDO:0020225 Orphanet:162 Orphanet:98641 obsolete syndromic cataract -MONDO:0015567 cataract-glaucoma syndrome MONDO:8000032 Orphanet:162 Orphanet:377789 obsolete malformation syndrome -MONDO:0015568 isolated congenital nasal pyriform aperture stenosis MONDO:0015503 Orphanet:162516 Orphanet:156246 obsolete nose and cavum anomaly -MONDO:0015568 isolated congenital nasal pyriform aperture stenosis MONDO:8000032 Orphanet:162516 Orphanet:377789 obsolete malformation syndrome -MONDO:0015570 isolated congenital auditory ossicle malformation MONDO:8000030 Orphanet:162526 Orphanet:377791 obsolete morphological anomaly -MONDO:0015571 deletion 5q35 MONDO:8000032 Orphanet:1627 Orphanet:377789 obsolete malformation syndrome -MONDO:0015572 obsolete cerebral malformation due to abnormal neuronal migration MONDO:0015655 Orphanet:163209 Orphanet:166478 obsolete cerebral malformation with epilepsy -MONDO:0015572 obsolete cerebral malformation due to abnormal neuronal migration MONDO:0016054 Orphanet:163209 Orphanet:199633 obsolete cerebral malformation -MONDO:0015572 obsolete cerebral malformation due to abnormal neuronal migration MONDO:0957008 Orphanet:163209 Orphanet:269553 hereditary cerebral malformation -MONDO:0015573 subacute cutaneous lupus erythematosus MONDO:0018887 Orphanet:163525 Orphanet:535 obsolete rare cutaneous lupus erythematosus -MONDO:0015574 chronic cutaneous lupus erythematosus MONDO:0018887 Orphanet:163531 Orphanet:535 obsolete rare cutaneous lupus erythematosus -MONDO:0015575 obsolete rare bacterial infectious disease MONDO:0019062 Orphanet:163582 Orphanet:68416 obsolete rare infectious disease -MONDO:0015576 obsolete rare viral disease MONDO:0019062 Orphanet:163585 Orphanet:68416 obsolete rare infectious disease -MONDO:0015577 obsolete rare parasitic disease MONDO:0019062 Orphanet:163588 Orphanet:68416 obsolete rare infectious disease -MONDO:0015578 obsolete rare mycosis MONDO:0019062 Orphanet:163591 Orphanet:68416 obsolete rare infectious disease -MONDO:0015579 Hb Bart's hydrops fetalis MONDO:8000031 Orphanet:163596 Orphanet:557494 obsolete subtype of a disorder -MONDO:0015580 distal monosomy 7q36 MONDO:8000032 Orphanet:1636 Orphanet:377789 obsolete malformation syndrome -MONDO:0015581 obsolete bile acid synthesis defect with cholestasis and malabsorption MONDO:0017290 Orphanet:163631 Orphanet:284385 familial intrahepatic cholestasis -MONDO:0015581 obsolete bile acid synthesis defect with cholestasis and malabsorption MONDO:0019218 Orphanet:163631 Orphanet:79168 inborn disorder of bile acid synthesis -MONDO:0015582 obsolete rare disorder related with pregnancy, childbirth and puerperium MONDO:0019937 Orphanet:163637 Orphanet:96344 obsolete rare gynecologic or obstetric disease -MONDO:0015584 febrile infection-related epilepsy syndrome MONDO:0018200 Orphanet:163703 Orphanet:363567 obsolete acute encephalopathy with inflammation-mediated status epilepticus MONDO:0015586 obsolete benign familial mesial temporal lobe epilepsy MONDO:0000001 Orphanet:163717 Orphanet:377788 disease -MONDO:0015586 obsolete benign familial mesial temporal lobe epilepsy MONDO:0017704 Orphanet:163717 Orphanet:309 familial partial epilepsy -MONDO:0015587 rolandic epilepsy-speech dyspraxia syndrome MONDO:0035862 Orphanet:163721 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome -MONDO:0015595 posttransplant acute limbic encephalitis MONDO:0032014 Orphanet:163921 Orphanet:377793 obsolete particular clinical situation in a disease or syndrome -MONDO:0015595 posttransplant acute limbic encephalitis MONDO:0035426 Orphanet:163921 Orphanet:565779 obsolete rare disorder potentially indicated for transplant or complication after transplantation -MONDO:0015597 pustulosis palmaris et plantaris MONDO:0019274 Orphanet:163927 Orphanet:79359 obsolete other epidermal disorder -MONDO:0015597 pustulosis palmaris et plantaris MONDO:0019275 Orphanet:163927 Orphanet:79360 obsolete other genetic epidermal disease -MONDO:0015599 atopic keratoconjunctivitis MONDO:0034931 Orphanet:163934 Orphanet:519280 obsolete rare conjunctivitis -MONDO:0015600 X-linked intellectual disability, Cilliers type MONDO:0015906 Orphanet:163971 Orphanet:181441 obsolete rare disorder with hypergonadotropic hypogonadism -MONDO:0015600 X-linked intellectual disability, Cilliers type MONDO:0035863 Orphanet:163971 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0015601 X-linked intellectual disability, van Esch type MONDO:0015906 Orphanet:163976 Orphanet:181441 obsolete rare disorder with hypergonadotropic hypogonadism -MONDO:0015601 X-linked intellectual disability, van Esch type MONDO:0035863 Orphanet:163976 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0015601 X-linked intellectual disability, van Esch type MONDO:8000032 Orphanet:163976 Orphanet:377789 obsolete malformation syndrome -MONDO:0015603 obsolete rare odontal or periodontal disorder MONDO:0020013 Orphanet:164001 Orphanet:98026 obsolete rare odontologic disease -MONDO:0015604 middle ear anomaly MONDO:0019936 Orphanet:164004 Orphanet:96333 obsolete rare otorhinolaryngological malformation -MONDO:0015605 distal monosomy 9p MONDO:0016891 Orphanet:1642 Orphanet:261929 obsolete partial deletion of the short arm of chromosome 9 -MONDO:0015605 distal monosomy 9p MONDO:0017978 Orphanet:1642 Orphanet:325638 obsolete syndrome with disorder of sex development of gynecological interest -MONDO:0015605 distal monosomy 9p MONDO:0020042 Orphanet:1642 Orphanet:98087 obsolete syndrome with 46,XY disorder of sex development -MONDO:0015605 distal monosomy 9p MONDO:8000032 Orphanet:1642 Orphanet:377789 obsolete malformation syndrome -MONDO:0015606 Xp22.3 microdeletion syndrome MONDO:8000032 Orphanet:1643 Orphanet:377789 obsolete malformation syndrome -MONDO:0015607 partial chromosome Y deletion MONDO:0018391 Orphanet:1646 Orphanet:399775 obsolete male infertility with spermatogenesis disorder -MONDO:0015607 partial chromosome Y deletion MONDO:0020061 Orphanet:1646 Orphanet:98158 obsolete chromosome Y structural anomaly -MONDO:0015607 partial chromosome Y deletion MONDO:8000032 Orphanet:1646 Orphanet:377789 obsolete malformation syndrome -MONDO:0015609 advanced sleep phase syndrome MONDO:0019045 Orphanet:164736 Orphanet:68354 obsolete rare sleep disorder -MONDO:0015609 advanced sleep phase syndrome MONDO:0019117 Orphanet:164736 Orphanet:71859 obsolete genetic nervous system disorder -MONDO:0015611 neutral lipid storage disease MONDO:0016117 Orphanet:165 Orphanet:206953 obsolete muscular lipidosis -MONDO:0015611 neutral lipid storage disease MONDO:0018120 Orphanet:165 Orphanet:352312 obsolete disorder of phospholipids, sphingolipids and fatty acids biosynthesis with skeletal muscle predominant involvement -MONDO:0015613 dentin dysplasia MONDO:0015668 Orphanet:1653 Orphanet:167759 obsolete hereditary dentin defect -MONDO:0015615 obsolete rare genetic gastroenterological disease MONDO:0021198 Orphanet:165652 Orphanet:98053 obsolete rare genetic disease -MONDO:0015616 obsolete rare genetic intestinal disease MONDO:0015615 Orphanet:165655 Orphanet:165652 obsolete rare genetic gastroenterological disease -MONDO:0015617 obsolete hereditary gastro-esophageal disease MONDO:0015615 Orphanet:165658 Orphanet:165652 obsolete rare genetic gastroenterological disease -MONDO:0015618 obsolete genetic pancreatic disease MONDO:0015615 Orphanet:165661 Orphanet:165652 obsolete rare genetic gastroenterological disease -MONDO:0015619 obsolete non-syndromic urogenital tract malformation MONDO:0019356 Orphanet:165704 Orphanet:83001 urogenital tract malformation -MONDO:0015620 obsolete syndromic urogenital tract malformation MONDO:0019356 Orphanet:165707 Orphanet:83001 urogenital tract malformation -MONDO:0015620 obsolete syndromic urogenital tract malformation MONDO:0024987 Orphanet:165707 Orphanet:156622 obsolete genetic urogenital tract malformation -MONDO:0015621 obsolete rare abdominal surgical disease MONDO:8000033 Orphanet:165711 Orphanet:557492 obsolete group of disorders -MONDO:0015632 FASTKD2-related infantile mitochondrial encephalomyopathy MONDO:0016799 Orphanet:166105 Orphanet:254822 obsolete mitochondrial oxidative phosphorylation disorder with no known mechanism -MONDO:0015632 FASTKD2-related infantile mitochondrial encephalomyopathy MONDO:0019058 Orphanet:166105 Orphanet:68385 obsolete neurometabolic disease -MONDO:0015635 porokeratotic eccrine ostial and dermal duct nevus MONDO:0017414 Orphanet:166286 Orphanet:294057 obsolete rare nevus -MONDO:0015650 epilepsy syndrome MONDO:0015139 Orphanet:166463 Orphanet:101998 obsolete rare epilepsy -MONDO:0015650 epilepsy syndrome MONDO:0015955 Orphanet:166463 Orphanet:183512 obsolete rare genetic epilepsy -MONDO:0015651 obsolete neurocutaneous syndrome with epilepsy MONDO:0015139 Orphanet:166466 Orphanet:101998 obsolete rare epilepsy -MONDO:0015651 obsolete neurocutaneous syndrome with epilepsy MONDO:0015955 Orphanet:166466 Orphanet:183512 obsolete rare genetic epilepsy -MONDO:0015652 obsolete chromosomal anomaly with epilepsy as a major feature MONDO:0015139 Orphanet:166469 Orphanet:101998 obsolete rare epilepsy -MONDO:0015652 obsolete chromosomal anomaly with epilepsy as a major feature MONDO:0015955 Orphanet:166469 Orphanet:183512 obsolete rare genetic epilepsy -MONDO:0015653 monogenic epilepsy MONDO:0015139 Orphanet:166472 Orphanet:101998 obsolete rare epilepsy -MONDO:0015653 monogenic epilepsy MONDO:0015955 Orphanet:166472 Orphanet:183512 obsolete rare genetic epilepsy -MONDO:0015654 obsolete idiopathic or cryptogenic familial epilepsy syndrome with identified loci/genes MONDO:0015139 Orphanet:166475 Orphanet:101998 obsolete rare epilepsy -MONDO:0015654 obsolete idiopathic or cryptogenic familial epilepsy syndrome with identified loci/genes MONDO:0015955 Orphanet:166475 Orphanet:183512 obsolete rare genetic epilepsy -MONDO:0015655 obsolete cerebral malformation with epilepsy MONDO:0015139 Orphanet:166478 Orphanet:101998 obsolete rare epilepsy -MONDO:0015655 obsolete cerebral malformation with epilepsy MONDO:0015955 Orphanet:166478 Orphanet:183512 obsolete rare genetic epilepsy -MONDO:0015656 obsolete metabolic disease with epilepsy MONDO:0015139 Orphanet:166481 Orphanet:101998 obsolete rare epilepsy -MONDO:0015656 obsolete metabolic disease with epilepsy MONDO:0015955 Orphanet:166481 Orphanet:183512 obsolete rare genetic epilepsy -MONDO:0015657 obsolete inflammatory and autoimmune disease with epilepsy MONDO:0015139 Orphanet:166484 Orphanet:101998 obsolete rare epilepsy -MONDO:0015658 obsolete cerebral diseases of vascular origin with epilepsy MONDO:0015139 Orphanet:166487 Orphanet:101998 obsolete rare epilepsy -MONDO:0015658 obsolete cerebral diseases of vascular origin with epilepsy MONDO:0015955 Orphanet:166487 Orphanet:183512 obsolete rare genetic epilepsy -MONDO:0015659 obsolete infectious disease with epilepsy MONDO:0015139 Orphanet:166490 Orphanet:101998 obsolete rare epilepsy -MONDO:0015660 sporadic fetal brain disruption sequence MONDO:0016054 Orphanet:1665 Orphanet:199633 obsolete cerebral malformation -MONDO:0015660 sporadic fetal brain disruption sequence MONDO:8000032 Orphanet:1665 Orphanet:377789 obsolete malformation syndrome -MONDO:0015661 dextrocardia MONDO:8000030 Orphanet:1666 Orphanet:377791 obsolete morphological anomaly -MONDO:0015662 obsolete hemorrhagic disorder due to an acquired coagulation factor defect MONDO:0016628 Orphanet:166775 Orphanet:248315 obsolete hemorrhagic disorder due to a coagulation factors defect -MONDO:0015663 diencephalic syndrome MONDO:0015889 Orphanet:1672 Orphanet:181384 obsolete rare hypothalamic or pituitary disease -MONDO:0015664 idiopathic pulmonary artery dilatation MONDO:0020287 Orphanet:1676 Orphanet:98719 obsolete pulmonary artery or pulmonary branch anomaly -MONDO:0015666 familial idiopathic dilatation of the right atrium MONDO:0018797 Orphanet:1677 Orphanet:477805 obsolete genetic cardiac malformation -MONDO:0015666 familial idiopathic dilatation of the right atrium MONDO:0020294 Orphanet:1677 Orphanet:98727 obsolete atrial defect and interatrial communication -MONDO:0015666 familial idiopathic dilatation of the right atrium MONDO:8000030 Orphanet:1677 Orphanet:377791 obsolete morphological anomaly -MONDO:0015668 obsolete hereditary dentin defect MONDO:0015603 Orphanet:167759 Orphanet:164001 obsolete rare odontal or periodontal disorder -MONDO:0015668 obsolete hereditary dentin defect MONDO:0018488 Orphanet:167759 Orphanet:420755 obsolete rare genetic odontal or periodontal disorder -MONDO:0015669 obsolete rare disease with dentinogenesis imperfecta MONDO:0019183 Orphanet:167762 Orphanet:77830 obsolete inherited odontologic disease -MONDO:0015669 obsolete rare disease with dentinogenesis imperfecta MONDO:0020014 Orphanet:167762 Orphanet:98027 obsolete rare disease with odontological manifestation -MONDO:0015672 diprosopus MONDO:0018731 Orphanet:1681 Orphanet:459787 obsolete lethal multiple congenital anomalies/dysmorphic syndrome -MONDO:0015672 diprosopus MONDO:8000030 Orphanet:1681 Orphanet:377791 obsolete morphological anomaly -MONDO:0015673 obsolete rare cardiac tumor MONDO:0019996 Orphanet:168194 Orphanet:97929 obsolete rare cardiac disease -MONDO:0015673 obsolete rare cardiac tumor MONDO:0020031 Orphanet:168194 Orphanet:98057 obsolete rare tumor -MONDO:0015674 late infantile neuronal ceroid lipofuscinosis MONDO:0034953 Orphanet:168491 Orphanet:519325 obsolete syndromic inherited retinal disorder -MONDO:0015675 distomatosis MONDO:0015577 Orphanet:1685 Orphanet:163588 obsolete rare parasitic disease -MONDO:0015677 cardiac diverticulum MONDO:8000030 Orphanet:1686 Orphanet:377791 obsolete morphological anomaly -MONDO:0015678 dysplasia of head of femur, Meyer type MONDO:0019692 Orphanet:168621 Orphanet:93429 obsolete multiple epiphyseal dysplasia and pseudoachondroplasia -MONDO:0015679 obsolete autosomal thrombocytopenia with normal platelets MONDO:0017057 Orphanet:168629 Orphanet:268322 obsolete hereditary thrombocytopenia with normal platelets -MONDO:0015679 obsolete autosomal thrombocytopenia with normal platelets MONDO:8000031 Orphanet:168629 Orphanet:557494 obsolete subtype of a disorder -MONDO:0015680 obsolete rare pervasive developmental disorder MONDO:0019117 Orphanet:168778 Orphanet:71859 obsolete genetic nervous system disorder -MONDO:0015680 obsolete rare pervasive developmental disorder MONDO:0020016 Orphanet:168778 Orphanet:98033 obsolete rare neurologic disease with psychiatric involvement -MONDO:0015681 childhood disintegrative disorder MONDO:0015680 Orphanet:168782 Orphanet:168778 obsolete rare pervasive developmental disorder -MONDO:0015682 obsolete primary peritoneal tumor MONDO:0015621 Orphanet:168803 Orphanet:165711 obsolete rare abdominal surgical disease -MONDO:0015682 obsolete primary peritoneal tumor MONDO:0020031 Orphanet:168803 Orphanet:98057 obsolete rare tumor -MONDO:0015683 obsolete primary malignant peritoneal tumor MONDO:0015682 Orphanet:168807 Orphanet:168803 obsolete primary peritoneal tumor -MONDO:0015686 primary peritoneal carcinoma MONDO:0015683 Orphanet:168829 Orphanet:168807 obsolete primary malignant peritoneal tumor -MONDO:0015694 malignant melanoma of the mucosa MONDO:0019300 Orphanet:168999 Orphanet:79386 obsolete rare skin tumor or hamartoma -MONDO:0015695 combined immunodeficiency due to CRAC channel dysfunction MONDO:0018035 Orphanet:169090 Orphanet:331217 obsolete syndrome with combined immunodeficiency -MONDO:0015697 immunoglobulin heavy chain deficiency MONDO:0018038 Orphanet:169110 Orphanet:331232 obsolete immunodeficiency with isotype or light chain deficiencies with normal number of B-cells -MONDO:0015698 transient hypogammaglobulinemia of infancy MONDO:0015132 Orphanet:169139 Orphanet:101977 obsolete immunodeficiency predominantly affecting antibody production -MONDO:0015706 mosaic trisomy 1 MONDO:0020051 Orphanet:1692 Orphanet:98131 obsolete total autosomal trisomy -MONDO:0015706 mosaic trisomy 1 MONDO:8000032 Orphanet:1692 Orphanet:377789 obsolete malformation syndrome -MONDO:0015707 obsolete DNA repair defect other than combined T-cell and B-cell immunodeficiencies MONDO:0018035 Orphanet:169346 Orphanet:331217 obsolete syndrome with combined immunodeficiency -MONDO:0015708 immuno-osseous dysplasia MONDO:0018035 Orphanet:169349 Orphanet:331217 obsolete syndrome with combined immunodeficiency -MONDO:0015709 obsolete immunodeficiency syndrome with autoimmunity MONDO:0015710 Orphanet:169355 Orphanet:169361 obsolete immune dysregulation disease with immunodeficiency -MONDO:0015710 obsolete immune dysregulation disease with immunodeficiency MONDO:0015823 Orphanet:169361 Orphanet:179006 obsolete primary immunodeficiency due to a defect in adaptive immunity -MONDO:0015711 obsolete specific antibody deficiency with normal immunoglobulin concentrations and normal numbers of B cells MONDO:0015132 Orphanet:169443 Orphanet:101977 obsolete immunodeficiency predominantly affecting antibody production -MONDO:0015712 non-distal trisomy 10q MONDO:0020226 Orphanet:1695 Orphanet:98642 obsolete chromosomal anomaly with cataract -MONDO:0015712 non-distal trisomy 10q MONDO:8000032 Orphanet:1695 Orphanet:377789 obsolete malformation syndrome -MONDO:0015715 severe hemophilia B MONDO:8000031 Orphanet:169793 Orphanet:557494 obsolete subtype of a disorder -MONDO:0015716 moderately severe hemophilia B MONDO:8000031 Orphanet:169796 Orphanet:557494 obsolete subtype of a disorder -MONDO:0015717 mild hemophilia B MONDO:8000031 Orphanet:169799 Orphanet:557494 obsolete subtype of a disorder -MONDO:0015718 mosaic trisomy 12 MONDO:0020051 Orphanet:1698 Orphanet:98131 obsolete total autosomal trisomy -MONDO:0015718 mosaic trisomy 12 MONDO:8000032 Orphanet:1698 Orphanet:377789 obsolete malformation syndrome -MONDO:0015719 severe hemophilia A MONDO:8000031 Orphanet:169802 Orphanet:557494 obsolete subtype of a disorder -MONDO:0015720 moderately severe hemophilia A MONDO:8000031 Orphanet:169805 Orphanet:557494 obsolete subtype of a disorder -MONDO:0015721 mild hemophilia A MONDO:8000031 Orphanet:169808 Orphanet:557494 obsolete subtype of a disorder -MONDO:0015722 congenital vitamin K-dependent coagulation factors deficiency MONDO:0017760 Orphanet:98434 Orphanet:309833 obsolete disorder of other vitamins and cofactors metabolism and transport -MONDO:0015722 congenital vitamin K-dependent coagulation factors deficiency MONDO:0019039 Orphanet:169826 Orphanet:68334 obsolete rare hemorrhagic disorder due to a constitutional coagulation factors defect -MONDO:0015723 trisomy 12p MONDO:8000032 Orphanet:1699 Orphanet:377789 obsolete malformation syndrome -MONDO:0015724 non-distal trisomy 13q MONDO:8000032 Orphanet:1702 Orphanet:377789 obsolete malformation syndrome -MONDO:0015725 mosaic trisomy 14 MONDO:0020051 Orphanet:1703 Orphanet:98131 obsolete total autosomal trisomy -MONDO:0015725 mosaic trisomy 14 MONDO:8000032 Orphanet:1703 Orphanet:377789 obsolete malformation syndrome -MONDO:0015726 distal trisomy 14q MONDO:0020165 Orphanet:1705 Orphanet:98574 obsolete syndromic epicanthus -MONDO:0015726 distal trisomy 14q MONDO:8000032 Orphanet:1705 Orphanet:377789 obsolete malformation syndrome -MONDO:0015727 mosaic trisomy 15 MONDO:0020051 Orphanet:1706 Orphanet:98131 obsolete total autosomal trisomy -MONDO:0015727 mosaic trisomy 15 MONDO:8000032 Orphanet:1706 Orphanet:377789 obsolete malformation syndrome -MONDO:0015728 distal trisomy 15q MONDO:8000031 Orphanet:1707 Orphanet:557494 obsolete subtype of a disorder -MONDO:0015729 mosaic trisomy 16 MONDO:0020051 Orphanet:1708 Orphanet:98131 obsolete total autosomal trisomy -MONDO:0015729 mosaic trisomy 16 MONDO:8000032 Orphanet:1708 Orphanet:377789 obsolete malformation syndrome -MONDO:0015730 mosaic trisomy 17 MONDO:0020051 Orphanet:1711 Orphanet:98131 obsolete total autosomal trisomy -MONDO:0015730 mosaic trisomy 17 MONDO:8000032 Orphanet:1711 Orphanet:377789 obsolete malformation syndrome -MONDO:0015734 rectal duplication MONDO:0019999 Orphanet:171220 Orphanet:97945 obsolete intestinal malformation -MONDO:0015734 rectal duplication MONDO:8000030 Orphanet:171220 Orphanet:377791 obsolete morphological anomaly -MONDO:0015735 severe congenital nemaline myopathy MONDO:0018701 Orphanet:171430 Orphanet:457074 obsolete congenital nemaline myopathy -MONDO:0015736 intermediate nemaline myopathy MONDO:0018701 Orphanet:171433 Orphanet:457074 obsolete congenital nemaline myopathy -MONDO:0015737 typical nemaline myopathy MONDO:0018701 Orphanet:171436 Orphanet:457074 obsolete congenital nemaline myopathy -MONDO:0015740 trisomy 18p MONDO:8000032 Orphanet:1715 Orphanet:377789 obsolete malformation syndrome -MONDO:0015741 distal trisomy 18q MONDO:8000032 Orphanet:1716 Orphanet:377789 obsolete malformation syndrome -MONDO:0015743 idiopathic bilateral vestibulopathy MONDO:0020017 Orphanet:171684 Orphanet:98036 obsolete rare otorhinolaryngologic disease -MONDO:0015744 distal trisomy 19q MONDO:8000032 Orphanet:1717 Orphanet:377789 obsolete malformation syndrome -MONDO:0015745 microcephaly-polymicrogyria-corpus callosum agenesis syndrome MONDO:0016055 Orphanet:171703 Orphanet:199639 obsolete syndrome with corpus callosum agenesis /dysgenesis as a major feature -MONDO:0015745 microcephaly-polymicrogyria-corpus callosum agenesis syndrome MONDO:0017122 Orphanet:171703 Orphanet:269573 obsolete genetic syndrome with corpus callosum agenesis/dysgenesis as a major feature -MONDO:0015745 microcephaly-polymicrogyria-corpus callosum agenesis syndrome MONDO:0035863 Orphanet:171703 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0015745 microcephaly-polymicrogyria-corpus callosum agenesis syndrome MONDO:8000032 Orphanet:171703 Orphanet:377789 obsolete malformation syndrome -MONDO:0015746 male infertility due to globozoospermia MONDO:8000031 Orphanet:171709 Orphanet:557494 obsolete subtype of a disorder -MONDO:0015748 hereditary mucosal leukokeratosis MONDO:0017414 Orphanet:171723 Orphanet:294057 obsolete rare nevus -MONDO:0015751 craniosynostosis-hydrocephalus-Arnold-Chiari malformation type I-radioulnar synostosis syndrome MONDO:0017120 Orphanet:171839 Orphanet:269531 obsolete other syndrome with a central nervous system malformation as major feature -MONDO:0015751 craniosynostosis-hydrocephalus-Arnold-Chiari malformation type I-radioulnar synostosis syndrome MONDO:8000032 Orphanet:171839 Orphanet:377789 obsolete malformation syndrome -MONDO:0015756 myeloid hemopathy MONDO:0019044 Orphanet:171895 Orphanet:68347 obsolete tumor of hematopoietic and lymphoid tissues -MONDO:0015757 lymphoid hemopathy MONDO:0019044 Orphanet:171898 Orphanet:68347 obsolete tumor of hematopoietic and lymphoid tissues -MONDO:0015761 trisomy 10p MONDO:8000032 Orphanet:171929 Orphanet:377789 obsolete malformation syndrome -MONDO:0015763 mosaic trisomy 2 MONDO:0020051 Orphanet:1723 Orphanet:98131 obsolete total autosomal trisomy -MONDO:0015763 mosaic trisomy 2 MONDO:8000032 Orphanet:1723 Orphanet:377789 obsolete malformation syndrome -MONDO:0015764 mosaic trisomy 20 MONDO:0020051 Orphanet:1724 Orphanet:98131 obsolete total autosomal trisomy -MONDO:0015764 mosaic trisomy 20 MONDO:8000032 Orphanet:1724 Orphanet:377789 obsolete malformation syndrome -MONDO:0015765 obsolete congenital myopathy with cores MONDO:0019952 Orphanet:172976 Orphanet:97245 congenital myopathy -MONDO:0015766 cholera MONDO:0015575 Orphanet:173 Orphanet:163582 obsolete rare bacterial infectious disease -MONDO:0015767 trisomy 4p MONDO:8000032 Orphanet:1738 Orphanet:377789 obsolete malformation syndrome -MONDO:0015768 trisomy 5p MONDO:0019717 Orphanet:1742 Orphanet:93461 obsolete chromosomal disease with overgrowth -MONDO:0015768 trisomy 5p MONDO:0020226 Orphanet:1742 Orphanet:98642 obsolete chromosomal anomaly with cataract -MONDO:0015768 trisomy 5p MONDO:8000032 Orphanet:1742 Orphanet:377789 obsolete malformation syndrome -MONDO:0015769 distal trisomy 6p MONDO:8000032 Orphanet:1745 Orphanet:377789 obsolete malformation syndrome -MONDO:0015770 congenital hypogonadotropic hypogonadism MONDO:0015860 Orphanet:174590 Orphanet:180208 obsolete anomaly of puberty or/and menstrual cycle -MONDO:0015770 congenital hypogonadotropic hypogonadism MONDO:0016072 Orphanet:174590 Orphanet:202940 obsolete anomaly of puberty or/and menstrual cycle of genetic origin -MONDO:0015770 congenital hypogonadotropic hypogonadism MONDO:0018386 Orphanet:174590 Orphanet:399572 obsolete rare male infertility due to hypothalamic-pituitary-gonadal axis disorder -MONDO:0015770 congenital hypogonadotropic hypogonadism MONDO:0018405 Orphanet:174590 Orphanet:399983 obsolete rare male infertility due to hypothalamic-pituitary-gonadal axis disorder of genetic origin -MONDO:0015771 mosaic trisomy 7 MONDO:0020051 Orphanet:1747 Orphanet:98131 obsolete total autosomal trisomy -MONDO:0015771 mosaic trisomy 7 MONDO:8000032 Orphanet:1747 Orphanet:377789 obsolete malformation syndrome -MONDO:0015772 trisomy 8q MONDO:8000032 Orphanet:1752 Orphanet:377789 obsolete malformation syndrome -MONDO:0015773 fibular dimelia-diplopodia syndrome MONDO:0017434 Orphanet:1757 Orphanet:294959 obsolete syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy -MONDO:0015773 fibular dimelia-diplopodia syndrome MONDO:8000032 Orphanet:1757 Orphanet:377789 obsolete malformation syndrome -MONDO:0015774 thoraco-abdominal enteric duplication MONDO:0015212 Orphanet:1759 Orphanet:108969 obsolete syndromic intestinal malformation -MONDO:0015774 thoraco-abdominal enteric duplication MONDO:8000032 Orphanet:1759 Orphanet:377789 obsolete malformation syndrome -MONDO:0015776 rhizomelic chondrodysplasia punctata MONDO:0016398 Orphanet:177 Orphanet:225686 obsolete peroxisomal disease with epilepsy -MONDO:0015776 rhizomelic chondrodysplasia punctata MONDO:0019058 Orphanet:177 Orphanet:68385 obsolete neurometabolic disease -MONDO:0015776 rhizomelic chondrodysplasia punctata MONDO:0020232 Orphanet:177 Orphanet:98648 obsolete musculoskeletal disease with cataract -MONDO:0015776 rhizomelic chondrodysplasia punctata MONDO:0035862 Orphanet:177 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome -MONDO:0015777 obsolete adult hypothyroidism MONDO:0015893 Orphanet:177101 Orphanet:181396 obsolete rare hypothyroidism -MONDO:0015778 obsolete syndromic hypothyroidism MONDO:0016408 Orphanet:177107 Orphanet:226292 permanent congenital hypothyroidism -MONDO:0015779 45,X/46,XY mixed gonadal dysgenesis MONDO:0017005 Orphanet:1772 Orphanet:263746 obsolete Y chromosome number anomaly -MONDO:0015779 45,X/46,XY mixed gonadal dysgenesis MONDO:0020038 Orphanet:1772 Orphanet:98074 obsolete gonadal dysgenesis of gynecological interest -MONDO:0015779 45,X/46,XY mixed gonadal dysgenesis MONDO:0020090 Orphanet:1772 Orphanet:98313 obsolete male infertility due to gonadal dysgenesis -MONDO:0015779 45,X/46,XY mixed gonadal dysgenesis MONDO:8000032 Orphanet:1772 Orphanet:377789 obsolete malformation syndrome -MONDO:0015780 dyskeratosis congenita MONDO:0018035 Orphanet:1775 Orphanet:331217 obsolete syndrome with combined immunodeficiency -MONDO:0015780 dyskeratosis congenita MONDO:0020063 Orphanet:1775 Orphanet:98196 obsolete malformation syndrome with hamartosis -MONDO:0015780 dyskeratosis congenita MONDO:0035862 Orphanet:1775 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome -MONDO:0015781 facial dysmorphism-shawl scrotum-joint laxity syndrome MONDO:0035863 Orphanet:1778 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0015781 facial dysmorphism-shawl scrotum-joint laxity syndrome MONDO:8000032 Orphanet:1778 Orphanet:377789 obsolete malformation syndrome -MONDO:0015782 dysmorphism-cleft palate-loose skin syndrome MONDO:0015335 Orphanet:1779 Orphanet:139039 obsolete Mendelian syndromes with cleft lip/palate -MONDO:0015782 dysmorphism-cleft palate-loose skin syndrome MONDO:8000032 Orphanet:1779 Orphanet:377789 obsolete malformation syndrome -MONDO:0015785 Prader-Willi syndrome due to translocation MONDO:8000031 Orphanet:177907 Orphanet:557494 obsolete subtype of a disorder -MONDO:0015786 Prader-Willi syndrome due to imprinting mutation MONDO:8000031 Orphanet:177910 Orphanet:557494 obsolete subtype of a disorder -MONDO:0015787 symptomatic form of hemophilia A in female carriers MONDO:8000031 Orphanet:177926 Orphanet:557494 obsolete subtype of a disorder -MONDO:0015788 symptomatic form of hemophilia B in female carriers MONDO:8000031 Orphanet:177929 Orphanet:557494 obsolete subtype of a disorder -MONDO:0015789 obsolete non-acquired combined pituitary hormone deficiencies without extra-pituitary malformations MONDO:0018762 Orphanet:178025 Orphanet:467 non-acquired combined pituitary hormone deficiency -MONDO:0015791 peripheral precocious puberty MONDO:0033329 Orphanet:178040 Orphanet:435554 obsolete genetic precocious puberty -MONDO:0015793 moderate multiminicore disease with hand involvement MONDO:8000031 Orphanet:178145 Orphanet:557494 obsolete subtype of a disorder -MONDO:0015794 antenatal multiminicore disease with arthrogryposis multiplex congenita MONDO:8000031 Orphanet:178148 Orphanet:557494 obsolete subtype of a disorder -MONDO:0015795 undifferentiated embryonal sarcoma of the liver MONDO:0017632 Orphanet:178315 Orphanet:306636 obsolete rare tumor of liver and intrahepatic biliary tract -MONDO:0015796 acute lung injury MONDO:0015118 Orphanet:178320 Orphanet:101944 obsolete rare pulmonary disease -MONDO:0015796 acute lung injury MONDO:0032014 Orphanet:178320 Orphanet:377793 obsolete particular clinical situation in a disease or syndrome -MONDO:0015797 UV-sensitive syndrome MONDO:0019304 Orphanet:178338 Orphanet:79390 obsolete rare photodermatosis -MONDO:0015798 inflammatory myofibroblastic tumor MONDO:0019099 Orphanet:178342 Orphanet:71209 obsolete rare soft tissue tumor -MONDO:0015800 osteosclerosis-developmental delay-craniosynostosis syndrome MONDO:8000032 Orphanet:178377 Orphanet:377789 obsolete malformation syndrome -MONDO:0015801 hemorrhagic disease due to alpha-1-antitrypsin Pittsburgh mutation MONDO:0019039 Orphanet:178396 Orphanet:68334 obsolete rare hemorrhagic disorder due to a constitutional coagulation factors defect -MONDO:0015801 hemorrhagic disease due to alpha-1-antitrypsin Pittsburgh mutation MONDO:0027750 Orphanet:178396 Orphanet:250808 obsolete serpinopathy with toxic serpin polymerization -MONDO:0015802 autosomal dominant non-syndromic intellectual disability MONDO:0015108 Orphanet:178469 Orphanet:101685 obsolete rare non-syndromic intellectual disability -MONDO:0015802 autosomal dominant non-syndromic intellectual disability MONDO:8000031 Orphanet:178469 Orphanet:557494 obsolete subtype of a disorder -MONDO:0015811 primary cutaneous aggressive epidermotropic CD8+ T-cell lymphoma MONDO:0015817 Orphanet:178528 Orphanet:178551 obsolete aggressive primary cutaneous T-cell lymphoma -MONDO:0015812 primary cutaneous gamma/delta-positive T-cell lymphoma MONDO:0015817 Orphanet:178533 Orphanet:178551 obsolete aggressive primary cutaneous T-cell lymphoma -MONDO:0015817 obsolete aggressive primary cutaneous T-cell lymphoma MONDO:0015758 Orphanet:178551 Orphanet:171901 primary cutaneous T-cell lymphoma -MONDO:0015818 obsolete aggressive primary cutaneous B-cell lymphoma MONDO:0015820 Orphanet:178554 Orphanet:178563 primary cutaneous B-cell lymphoma -MONDO:0015818 obsolete aggressive primary cutaneous B-cell lymphoma MONDO:0017595 Orphanet:178554 Orphanet:300846 aggressive B-cell non-Hodgkin lymphoma -MONDO:0015822 obsolete acquired neutropenia MONDO:0017769 Orphanet:178996 Orphanet:310050 acquired immunodeficiency -MONDO:0015823 obsolete primary immunodeficiency due to a defect in adaptive immunity MONDO:0003778 Orphanet:179006 Orphanet:101997 inborn error of immunity -MONDO:0015824 oculomaxillofacial dysostosis MONDO:0015335 Orphanet:1794 Orphanet:139039 obsolete Mendelian syndromes with cleft lip/palate -MONDO:0015824 oculomaxillofacial dysostosis MONDO:0800085 Orphanet:1794 Orphanet:93453 obsolete dysostosis with predominant craniofacial involvement -MONDO:0015824 oculomaxillofacial dysostosis MONDO:8000032 Orphanet:1794 Orphanet:377789 obsolete malformation syndrome -MONDO:0015825 obsolete obesity due to congenital leptin resistance MONDO:0020075 Orphanet:179490 Orphanet:98267 hereditary non-syndromic obesity -MONDO:0015825 obsolete obesity due to congenital leptin resistance MONDO:8000031 Orphanet:179490 Orphanet:557494 obsolete subtype of a disorder -MONDO:0015826 autosomal dominant spondylocostal dysostosis MONDO:0019711 Orphanet:1797 Orphanet:93454 obsolete dysostosis with predominant vertebral and costal involvement -MONDO:0015826 autosomal dominant spondylocostal dysostosis MONDO:8000032 Orphanet:1797 Orphanet:377789 obsolete malformation syndrome -MONDO:0015827 distal renal tubular acidosis MONDO:0017828 Orphanet:18 Orphanet:314822 obsolete primary renal tubular acidosis -MONDO:0015828 obsolete uterovaginal malformation MONDO:0019937 Orphanet:180062 Orphanet:96344 obsolete rare gynecologic or obstetric disease -MONDO:0015829 obsolete non-syndromic uterovaginal malformation MONDO:0015828 Orphanet:180065 Orphanet:180062 obsolete uterovaginal malformation -MONDO:0015829 obsolete non-syndromic uterovaginal malformation MONDO:0015932 Orphanet:180065 Orphanet:182117 obsolete non-syndromic urogenital tract malformation of female -MONDO:0015832 true unicornuate uterus MONDO:8000030 Orphanet:180074 Orphanet:377791 obsolete morphological anomaly -MONDO:0015833 pseudounicornuate uterus MONDO:8000030 Orphanet:180079 Orphanet:377791 obsolete morphological anomaly -MONDO:0015834 didelphys uterus MONDO:8000030 Orphanet:180086 Orphanet:377791 obsolete morphological anomaly -MONDO:0015835 Bicervical bicornuate uterus and blind hemivagina MONDO:8000031 Orphanet:180106 Orphanet:557494 obsolete subtype of a disorder -MONDO:0015836 Bicervical bicornuate uterus with patent cervix and vagina MONDO:8000031 Orphanet:180111 Orphanet:557494 obsolete subtype of a disorder -MONDO:0015837 obsolete Unicervical bicornuate uterus MONDO:0015842 Orphanet:180114 Orphanet:180134 bicornuate uterus -MONDO:0015837 obsolete Unicervical bicornuate uterus MONDO:8000030 Orphanet:180114 Orphanet:377791 obsolete morphological anomaly -MONDO:0015839 septate uterus MONDO:0015829 Orphanet:180122 Orphanet:180065 obsolete non-syndromic uterovaginal malformation -MONDO:0015839 septate uterus MONDO:0018403 Orphanet:180122 Orphanet:399882 obsolete female infertility due to an implantation defect -MONDO:0015840 complete septate uterus MONDO:8000030 Orphanet:180126 Orphanet:377791 obsolete morphological anomaly -MONDO:0015841 partial septate uterus MONDO:8000030 Orphanet:180129 Orphanet:377791 obsolete morphological anomaly -MONDO:0015842 bicornuate uterus MONDO:0015829 Orphanet:180134 Orphanet:180065 obsolete non-syndromic uterovaginal malformation -MONDO:0015843 uterine hypoplasia MONDO:0015829 Orphanet:180139 Orphanet:180065 obsolete non-syndromic uterovaginal malformation -MONDO:0015843 uterine hypoplasia MONDO:8000030 Orphanet:180139 Orphanet:377791 obsolete morphological anomaly -MONDO:0015844 agenesis and aplasia of uterine body MONDO:0015829 Orphanet:180142 Orphanet:180065 obsolete non-syndromic uterovaginal malformation -MONDO:0015844 agenesis and aplasia of uterine body MONDO:0018403 Orphanet:180142 Orphanet:399882 obsolete female infertility due to an implantation defect -MONDO:0015844 agenesis and aplasia of uterine body MONDO:8000030 Orphanet:180142 Orphanet:377791 obsolete morphological anomaly -MONDO:0015845 uterine cervical aplasia and agenesis MONDO:0015829 Orphanet:180145 Orphanet:180065 obsolete non-syndromic uterovaginal malformation -MONDO:0015845 uterine cervical aplasia and agenesis MONDO:0018403 Orphanet:180145 Orphanet:399882 obsolete female infertility due to an implantation defect -MONDO:0015845 uterine cervical aplasia and agenesis MONDO:8000030 Orphanet:180145 Orphanet:377791 obsolete morphological anomaly -MONDO:0015846 obsolete syndromic uterovaginal malformation MONDO:0015828 Orphanet:180148 Orphanet:180062 obsolete uterovaginal malformation -MONDO:0015847 obsolete rare vaginal malformation MONDO:0015932 Orphanet:180151 Orphanet:182117 obsolete non-syndromic urogenital tract malformation of female -MONDO:0015847 obsolete rare vaginal malformation MONDO:0019937 Orphanet:180151 Orphanet:96344 obsolete rare gynecologic or obstetric disease -MONDO:0015847 obsolete rare vaginal malformation MONDO:0020026 Orphanet:180151 Orphanet:98049 obsolete rare female infertility -MONDO:0015848 obsolete septate vagina MONDO:0015847 Orphanet:180154 Orphanet:180151 obsolete rare vaginal malformation -MONDO:0015848 obsolete septate vagina MONDO:8000030 Orphanet:180154 Orphanet:377791 obsolete morphological anomaly -MONDO:0015849 longitudinal vaginal septum MONDO:0015848 Orphanet:180157 Orphanet:180154 obsolete septate vagina -MONDO:0015849 longitudinal vaginal septum MONDO:8000031 Orphanet:180157 Orphanet:557494 obsolete subtype of a disorder -MONDO:0015850 transverse vaginal septum MONDO:0015848 Orphanet:180160 Orphanet:180154 obsolete septate vagina -MONDO:0015850 transverse vaginal septum MONDO:8000031 Orphanet:180160 Orphanet:557494 obsolete subtype of a disorder -MONDO:0015851 obsolete rare breast malformation MONDO:0019937 Orphanet:180163 Orphanet:96344 obsolete rare gynecologic or obstetric disease -MONDO:0015852 obsolete excess breast volume or number MONDO:0015851 Orphanet:180170 Orphanet:180163 obsolete rare breast malformation -MONDO:0015853 obsolete deficient breast volume or number MONDO:0015851 Orphanet:180173 Orphanet:180163 obsolete rare breast malformation -MONDO:0015854 supernumerary breasts MONDO:0015852 Orphanet:180182 Orphanet:180170 obsolete excess breast volume or number -MONDO:0015854 supernumerary breasts MONDO:8000030 Orphanet:180182 Orphanet:377791 obsolete morphological anomaly -MONDO:0015855 isolated congenital breast hypoplasia/aplasia MONDO:0015853 Orphanet:180188 Orphanet:180173 obsolete deficient breast volume or number -MONDO:0015855 isolated congenital breast hypoplasia/aplasia MONDO:0015980 Orphanet:180188 Orphanet:183731 obsolete rare genetic gynecological and obstetrical diseases -MONDO:0015855 isolated congenital breast hypoplasia/aplasia MONDO:8000030 Orphanet:180188 Orphanet:377791 obsolete morphological anomaly -MONDO:0015856 syndromic breast hypoplasia/aplasia MONDO:0015853 Orphanet:180193 Orphanet:180173 obsolete deficient breast volume or number -MONDO:0015857 obsolete rare non-malformative gynecologic or obstetric disease MONDO:0019937 Orphanet:180199 Orphanet:96344 obsolete rare gynecologic or obstetric disease -MONDO:0015858 obsolete rare non-malformative breast disease MONDO:0015857 Orphanet:180202 Orphanet:180199 obsolete rare non-malformative gynecologic or obstetric disease -MONDO:0015859 obsolete rare non-malformative uterovaginal or vulvovaginal disease MONDO:0015857 Orphanet:180205 Orphanet:180199 obsolete rare non-malformative gynecologic or obstetric disease -MONDO:0015860 obsolete anomaly of puberty or/and menstrual cycle MONDO:0019937 Orphanet:180208 Orphanet:96344 obsolete rare gynecologic or obstetric disease -MONDO:0015861 obsolete rare uterine adnexal tumor MONDO:0020037 Orphanet:180220 Orphanet:98063 obsolete rare gynecological tumor -MONDO:0015867 vaginal carcinoma MONDO:0015876 Orphanet:180247 Orphanet:180312 obsolete rare vulvovaginal tumor -MONDO:0015868 obsolete rare breast tumor MONDO:0020037 Orphanet:180250 Orphanet:98063 obsolete rare gynecological tumor -MONDO:0015869 obsolete rare benign breast tumor MONDO:0015868 Orphanet:180253 Orphanet:180250 obsolete rare breast tumor -MONDO:0015870 obsolete rare malignant breast tumor MONDO:0015868 Orphanet:180257 Orphanet:180250 obsolete rare breast tumor -MONDO:0015871 benign breast phyllodes tumor MONDO:0015869 Orphanet:180261 Orphanet:180253 obsolete rare benign breast tumor -MONDO:0015871 benign breast phyllodes tumor MONDO:0015870 Orphanet:180261 Orphanet:180257 obsolete rare malignant breast tumor -MONDO:0015872 giant adenofibroma of the breast MONDO:0015869 Orphanet:180267 Orphanet:180253 obsolete rare benign breast tumor -MONDO:0015873 Paget disease of the nipple MONDO:0015870 Orphanet:180275 Orphanet:180257 obsolete rare malignant breast tumor -MONDO:0015875 obsolete rare non-malformative uterine adnexal disease MONDO:0015857 Orphanet:180303 Orphanet:180199 obsolete rare non-malformative gynecologic or obstetric disease -MONDO:0015876 obsolete rare vulvovaginal tumor MONDO:0020037 Orphanet:180312 Orphanet:98063 obsolete rare gynecological tumor -MONDO:0015877 obsolete malformative syndrome with dentinogenesis imperfecta MONDO:0015336 Orphanet:180766 Orphanet:139042 obsolete malformation syndrome with odontal and/or periodontal component -MONDO:0015877 obsolete malformative syndrome with dentinogenesis imperfecta MONDO:0019183 Orphanet:180766 Orphanet:77830 obsolete inherited odontologic disease -MONDO:0015878 obsolete rare disease with autism MONDO:0015680 Orphanet:180772 Orphanet:168778 obsolete rare pervasive developmental disorder -MONDO:0015879 obsolete non-syndromic diaphragmatic or thoracic malformation MONDO:0020002 Orphanet:180776 Orphanet:97962 obsolete rare surgical thoracic disease -MONDO:0015880 obsolete syndromic diaphragmatic or thoracic malformation MONDO:0020002 Orphanet:180779 Orphanet:97962 obsolete rare surgical thoracic disease -MONDO:0015881 obsolete gastroesophageal tumor MONDO:0015111 Orphanet:180821 Orphanet:101936 obsolete gastroesophageal disease -MONDO:0015881 obsolete gastroesophageal tumor MONDO:0020033 Orphanet:180821 Orphanet:98059 obsolete rare digestive tumor -MONDO:0015882 obsolete rare tumor of pancreas MONDO:0015112 Orphanet:180824 Orphanet:101937 obsolete rare pancreatic disease -MONDO:0015882 obsolete rare tumor of pancreas MONDO:0020033 Orphanet:180824 Orphanet:98059 obsolete rare digestive tumor -MONDO:0015883 hidrotic ectodermal dysplasia, Halal type MONDO:0035863 Orphanet:1809 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0015883 hidrotic ectodermal dysplasia, Halal type MONDO:8000032 Orphanet:1809 Orphanet:377789 obsolete malformation syndrome -MONDO:0015884 autosomal dominant hypohidrotic ectodermal dysplasia MONDO:8000031 Orphanet:1810 Orphanet:557494 obsolete subtype of a disorder -MONDO:0015885 obsolete rare insulin-resistance syndrome MONDO:0015122 Orphanet:181368 Orphanet:101952 obsolete rare diabetes mellitus -MONDO:0015885 obsolete rare insulin-resistance syndrome MONDO:0015967 Orphanet:181368 Orphanet:183625 monogenic diabetes -MONDO:0015886 obsolete rare diabetes mellitus type 1 MONDO:0015122 Orphanet:181371 Orphanet:101952 obsolete rare diabetes mellitus -MONDO:0015887 obsolete rare diabetes mellitus type 2 MONDO:0015122 Orphanet:181376 Orphanet:101952 obsolete rare diabetes mellitus -MONDO:0015888 obsolete other rare diabetes mellitus MONDO:0015122 Orphanet:181381 Orphanet:101952 obsolete rare diabetes mellitus -MONDO:0015889 obsolete rare hypothalamic or pituitary disease MONDO:0020005 Orphanet:181384 Orphanet:97978 obsolete rare endocrine disease -MONDO:0015890 obsolete rare disorder with congenital hypogonadotropic hypogonadism MONDO:0015770 Orphanet:181387 Orphanet:174590 congenital hypogonadotropic hypogonadism -MONDO:0015891 obsolete hypogonadotropic hypogonadism associated with other endocrinopathies MONDO:0015770 Orphanet:181390 Orphanet:174590 congenital hypogonadotropic hypogonadism -MONDO:0015891 obsolete hypogonadotropic hypogonadism associated with other endocrinopathies MONDO:0018398 Orphanet:181390 Orphanet:399839 obsolete female infertility due to a congenital hypogonadotropic hypogonadism -MONDO:0015892 growth hormone insensitivity syndrome MONDO:0015968 Orphanet:181393 Orphanet:183628 obsolete rare genetic hypothalamic or pituitary disease -MONDO:0015892 growth hormone insensitivity syndrome MONDO:0019590 Orphanet:181393 Orphanet:90692 obsolete rare endocrine growth disease -MONDO:0015893 obsolete rare hypothyroidism MONDO:0015125 Orphanet:181396 Orphanet:101955 obsolete rare thyroid disease -MONDO:0015893 obsolete rare hypothyroidism MONDO:0015969 Orphanet:181396 Orphanet:183631 obsolete rare genetic thyroid disease -MONDO:0015894 obsolete rare hyperthyroidism MONDO:0015125 Orphanet:181399 Orphanet:101955 obsolete rare thyroid disease -MONDO:0015894 obsolete rare hyperthyroidism MONDO:0015969 Orphanet:181399 Orphanet:183631 obsolete rare genetic thyroid disease -MONDO:0015895 obsolete syndrome with hypoparathyroidism MONDO:0015896 Orphanet:181402 Orphanet:181405 obsolete rare hypoparathyroidism -MONDO:0015895 obsolete syndrome with hypoparathyroidism MONDO:0016165 Orphanet:181402 Orphanet:208593 hereditary hypoparathyroidism -MONDO:0015896 obsolete rare hypoparathyroidism MONDO:0019061 Orphanet:181405 Orphanet:68415 obsolete rare parathyroid disease and phosphocalcic metabolism anomaly -MONDO:0015897 obsolete rare hyperparathyroidism MONDO:0019061 Orphanet:181408 Orphanet:68415 obsolete rare parathyroid disease and phosphocalcic metabolism anomaly -MONDO:0015898 adrenogenital syndrome MONDO:0015124 Orphanet:181412 Orphanet:101954 obsolete rare adrenal disease -MONDO:0015898 adrenogenital syndrome MONDO:0015971 Orphanet:181412 Orphanet:183637 obsolete rare genetic adrenal disease -MONDO:0015899 obsolete rare primary hyperaldosteronism MONDO:0015124 Orphanet:181415 Orphanet:101954 obsolete rare adrenal disease -MONDO:0015900 hypoaldosteronism disease MONDO:0015124 Orphanet:181419 Orphanet:101954 obsolete rare adrenal disease -MONDO:0015901 obsolete rare inherited hyperlipidemia MONDO:0015123 Orphanet:181422 Orphanet:101953 obsolete rare inherited dyslipidemia -MONDO:0015903 hyperalphalipoproteinemia MONDO:0015901 Orphanet:181428 Orphanet:181422 obsolete rare inherited hyperlipidemia -MONDO:0015904 obsolete rare hypolipidemia MONDO:0015123 Orphanet:181431 Orphanet:101953 obsolete rare inherited dyslipidemia -MONDO:0015905 syndromic dyslipidemia MONDO:0015123 Orphanet:181437 Orphanet:101953 obsolete rare inherited dyslipidemia -MONDO:0015906 obsolete rare disorder with hypergonadotropic hypogonadism MONDO:0015513 Orphanet:181441 Orphanet:156638 obsolete rare genetic endocrine disease -MONDO:0015906 obsolete rare disorder with hypergonadotropic hypogonadism MONDO:0018388 Orphanet:181441 Orphanet:399685 obsolete rare male infertility due to testicular endocrine disorder -MONDO:0015906 obsolete rare disorder with hypergonadotropic hypogonadism MONDO:0020005 Orphanet:181441 Orphanet:97978 obsolete rare endocrine disease -MONDO:0015908 chromomycosis MONDO:0015578 Orphanet:182 Orphanet:163591 obsolete rare mycosis -MONDO:0015909 aplastic anemia MONDO:0015223 Orphanet:182040 Orphanet:108997 obsolete rare anemia -MONDO:0015910 obsolete rare constitutional hemolytic anemia MONDO:0015972 Orphanet:182043 Orphanet:183651 obsolete rare constitutional anemia -MONDO:0015910 obsolete rare constitutional hemolytic anemia MONDO:0020100 Orphanet:182043 Orphanet:98363 obsolete rare hemolytic anemia -MONDO:0015911 obsolete rare acquired hemolytic anemia MONDO:0020100 Orphanet:182047 Orphanet:98363 obsolete rare hemolytic anemia -MONDO:0015912 macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss MONDO:0019589 Orphanet:182050 Orphanet:90642 obsolete syndromic genetic hearing loss -MONDO:0015913 obsolete rare thrombotic disease of hematologic origin MONDO:0020116 Orphanet:182054 Orphanet:98429 obsolete rare blood coagulation disease -MONDO:0015914 primary orthostatic hypotension MONDO:0035014 Orphanet:182058 Orphanet:521236 obsolete primary orthostatic disorder -MONDO:0015915 obsolete cerebellar malformation MONDO:0020133 Orphanet:182061 Orphanet:98519 obsolete posterior fossa malformation -MONDO:0015916 obsolete rare neuroinflammatory or neuroimmunological disease MONDO:0020009 Orphanet:182064 Orphanet:98006 obsolete rare neurologic disease -MONDO:0015918 obsolete rare neurodegenerative disease MONDO:0020009 Orphanet:182070 Orphanet:98006 obsolete rare neurologic disease -MONDO:0015921 obsolete ARX-related epileptic encephalopathy MONDO:0015653 Orphanet:182079 Orphanet:166472 monogenic epilepsy -MONDO:0015922 obsolete channelopathy with epilepsy MONDO:0015653 Orphanet:182083 Orphanet:166472 monogenic epilepsy -MONDO:0015923 acquired peripheral neuropathy MONDO:0020126 Orphanet:182086 Orphanet:98496 obsolete rare peripheral neuropathy -MONDO:0015924 pulmonary arterial hypertension MONDO:0019096 Orphanet:182090 Orphanet:71198 obsolete rare pulmonary hypertension -MONDO:0015925 interstitial lung disease MONDO:0015118 Orphanet:182095 Orphanet:101944 obsolete rare pulmonary disease -MONDO:0015926 pneumoconiosis MONDO:0017027 Orphanet:182098 Orphanet:264740 obsolete primary interstitial lung disease specific to adulthood -MONDO:0015927 idiopathic eosinophilic pneumonia MONDO:0017033 Orphanet:182101 Orphanet:264935 obsolete primary interstitial lung disease in childhood and adulthood due to alveolar vascular disorder -MONDO:0015928 obsolete secondary interstitial lung disease in childhood and adulthood associated with a connective tissue disease MONDO:0017035 Orphanet:182104 Orphanet:264949 obsolete secondary interstitial lung disease in childhood and adulthood associated with a systemic disease -MONDO:0015930 obsolete respiratory malformation MONDO:0020001 Orphanet:182111 Orphanet:97957 respiratory or thoracic malformation -MONDO:0015931 obsolete rare urogenital tumor MONDO:0015106 Orphanet:182114 Orphanet:101433 obsolete rare urogenital disease -MONDO:0015931 obsolete rare urogenital tumor MONDO:0020031 Orphanet:182114 Orphanet:98057 obsolete rare tumor -MONDO:0015932 obsolete non-syndromic urogenital tract malformation of female MONDO:0015619 Orphanet:182117 Orphanet:165704 obsolete non-syndromic urogenital tract malformation -MONDO:0015933 obsolete non-syndromic urogenital tract malformation of male MONDO:0015619 Orphanet:182121 Orphanet:165704 obsolete non-syndromic urogenital tract malformation -MONDO:0015934 obsolete non-syndromic urogenital tract malformation of male and female MONDO:0015619 Orphanet:182124 Orphanet:165704 obsolete non-syndromic urogenital tract malformation -MONDO:0015936 obsolete rare tumor of endocrine glands MONDO:0020031 Orphanet:182130 Orphanet:98057 obsolete rare tumor -MONDO:0015940 obsolete rare rheumatologic disease MONDO:0037860 Orphanet:182231 Orphanet:98023 obsolete rare systemic or rheumatologic disease -MONDO:0015941 epiphyseal dysplasia-hearing loss-dysmorphism syndrome MONDO:0035863 Orphanet:1825 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0015941 epiphyseal dysplasia-hearing loss-dysmorphism syndrome MONDO:8000032 Orphanet:1825 Orphanet:377789 obsolete malformation syndrome -MONDO:0015942 frontometaphyseal dysplasia MONDO:0020018 Orphanet:1826 Orphanet:98038 obsolete cranial malformation -MONDO:0015942 frontometaphyseal dysplasia MONDO:0026182 Orphanet:1826 Orphanet:183542 obsolete genetic cranial malformation -MONDO:0015942 frontometaphyseal dysplasia MONDO:0035863 Orphanet:1826 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0015943 eosinophilic granulomatosis with polyangiitis MONDO:0016177 Orphanet:183 Orphanet:209007 obsolete systemic inflammatory disease associated with an acquired peripheral neuropathy -MONDO:0015943 eosinophilic granulomatosis with polyangiitis MONDO:0017952 Orphanet:183 Orphanet:324767 obsolete non-familial rare disease with dilated cardiomyopathy -MONDO:0015944 axial mesodermal dysplasia spectrum MONDO:0015246 Orphanet:1834 Orphanet:117573 obsolete syndromic anorectal malformation -MONDO:0015944 axial mesodermal dysplasia spectrum MONDO:0019721 Orphanet:1834 Orphanet:93547 obsolete syndromic renal or urinary tract malformation -MONDO:0015944 axial mesodermal dysplasia spectrum MONDO:8000032 Orphanet:1834 Orphanet:377789 obsolete malformation syndrome -MONDO:0015945 obsolete polymalformative genetic syndrome with increased risk of developing cancer MONDO:0015356 Orphanet:183422 Orphanet:140162 hereditary neoplastic syndrome -MONDO:0015946 obsolete rare genetic epidermal disorder MONDO:0019043 Orphanet:183426 Orphanet:68346 obsolete rare genetic skin disease -MONDO:0015947 inherited ichthyosis MONDO:0015946 Orphanet:183435 Orphanet:183426 obsolete rare genetic epidermal disorder -MONDO:0015948 obsolete rare genetic skin vascular disorder MONDO:0026160 Orphanet:183478 Orphanet:183472 obsolete genetic dermis disorder -MONDO:0015949 obsolete rare genetic subcutaneous tissue disorder MONDO:0019043 Orphanet:183484 Orphanet:68346 obsolete rare genetic skin disease -MONDO:0015950 obsolete inherited skin tumor MONDO:0019041 Orphanet:183487 Orphanet:68336 obsolete rare genetic inherited tumor -MONDO:0015950 obsolete inherited skin tumor MONDO:0019043 Orphanet:183487 Orphanet:68346 obsolete rare genetic skin disease -MONDO:0015951 hereditary photodermatosis MONDO:0019043 Orphanet:183490 Orphanet:68346 obsolete rare genetic skin disease -MONDO:0015953 obsolete genetic central nervous system and retinal vascular disease MONDO:0019117 Orphanet:183503 Orphanet:71859 obsolete genetic nervous system disorder -MONDO:0015954 obsolete rare genetic headache disorder MONDO:0019117 Orphanet:183509 Orphanet:71859 obsolete genetic nervous system disorder -MONDO:0015955 obsolete rare genetic epilepsy MONDO:0019117 Orphanet:183512 Orphanet:71859 obsolete genetic nervous system disorder -MONDO:0015957 obsolete rare genetic movement disorder MONDO:0019117 Orphanet:183521 Orphanet:71859 obsolete genetic nervous system disorder -MONDO:0015958 obsolete rare genetic bone disease MONDO:0021198 Orphanet:183524 Orphanet:98053 obsolete rare genetic disease -MONDO:0015959 obsolete inherited syndrome with bone tumors as a major feature MONDO:0019041 Orphanet:183527 Orphanet:68336 obsolete rare genetic inherited tumor -MONDO:0015960 obsolete rare genetic developmental defect during embryogenesis MONDO:0021198 Orphanet:183530 Orphanet:98053 obsolete rare genetic disease -MONDO:0015961 obsolete hereditary head and neck malformation MONDO:0015960 Orphanet:183583 Orphanet:183530 obsolete rare genetic developmental defect during embryogenesis -MONDO:0015962 inherited renal tubular disease MONDO:0020030 Orphanet:183592 Orphanet:98056 obsolete rare genetic renal disease -MONDO:0015963 obsolete inherited renal tumor MONDO:0019041 Orphanet:183595 Orphanet:68336 obsolete rare genetic inherited tumor -MONDO:0015966 obsolete hereditary eye tumor MONDO:0015107 Orphanet:183619 Orphanet:101435 obsolete rare genetic eye disease -MONDO:0015966 obsolete hereditary eye tumor MONDO:0019041 Orphanet:183619 Orphanet:68336 obsolete rare genetic inherited tumor -MONDO:0015967 monogenic diabetes MONDO:0015513 Orphanet:183625 Orphanet:156638 obsolete rare genetic endocrine disease -MONDO:0015968 obsolete rare genetic hypothalamic or pituitary disease MONDO:0015513 Orphanet:183628 Orphanet:156638 obsolete rare genetic endocrine disease -MONDO:0015969 obsolete rare genetic thyroid disease MONDO:0015513 Orphanet:183631 Orphanet:156638 obsolete rare genetic endocrine disease -MONDO:0015970 obsolete rare genetic parathyroid disease and phosphocalcic metabolism disorder MONDO:0015513 Orphanet:183634 Orphanet:156638 obsolete rare genetic endocrine disease -MONDO:0015971 obsolete rare genetic adrenal disease MONDO:0015513 Orphanet:183637 Orphanet:156638 obsolete rare genetic endocrine disease -MONDO:0015972 obsolete rare constitutional anemia MONDO:0015549 Orphanet:183651 Orphanet:158300 obsolete rare genetic hematologic disease MONDO:0015975 obsolete hyper-IgM syndrome with susceptibility to opportunistic infections MONDO:0000001 Orphanet:183663 Orphanet:377788 disease -MONDO:0015975 obsolete hyper-IgM syndrome with susceptibility to opportunistic infections MONDO:0018814 Orphanet:183663 Orphanet:480549 non-SCID combined immunodeficiency MONDO:0015976 obsolete hyper-IgM syndrome without susceptibility to opportunistic infections MONDO:0000001 Orphanet:183666 Orphanet:377788 disease -MONDO:0015976 obsolete hyper-IgM syndrome without susceptibility to opportunistic infections MONDO:0018040 Orphanet:183666 Orphanet:331240 obsolete immunodeficiency with severe reduction in serum IgG and IgA with normal/elevated IgM and normal number of B-cells -MONDO:0015977 agammaglobulinemia MONDO:0015132 Orphanet:183669 Orphanet:101977 obsolete immunodeficiency predominantly affecting antibody production -MONDO:0015978 functional neutrophil defect MONDO:0015133 Orphanet:183681 Orphanet:101985 obsolete quantitative and/or qualitative congenital phagocyte defect -MONDO:0015979 hereditary predisposition to infections MONDO:0015135 Orphanet:183710 Orphanet:101988 obsolete primary immunodeficiency due to a genetic defect in innate immunity -MONDO:0015980 obsolete rare genetic gynecological and obstetrical diseases MONDO:0021198 Orphanet:183731 Orphanet:98053 obsolete rare genetic disease -MONDO:0015981 obsolete inherited gynecological tumor MONDO:0019041 Orphanet:183734 Orphanet:68336 obsolete rare genetic inherited tumor -MONDO:0015982 obsolete rare genetic intellectual disability MONDO:0019117 Orphanet:183757 Orphanet:71859 obsolete genetic nervous system disorder -MONDO:0015983 obsolete rare genetic syndromic intellectual disability MONDO:0015982 Orphanet:183763 Orphanet:183757 obsolete rare genetic intellectual disability -MONDO:0015984 obsolete rare genetic immune disease MONDO:0021198 Orphanet:183770 Orphanet:98053 obsolete rare genetic disease -MONDO:0015986 bilateral renal agenesis MONDO:8000031 Orphanet:1848 Orphanet:557494 obsolete subtype of a disorder -MONDO:0015987 scimitar syndrome MONDO:0015930 Orphanet:185 Orphanet:182111 obsolete respiratory malformation -MONDO:0015987 scimitar syndrome MONDO:8000032 Orphanet:185 Orphanet:377789 obsolete malformation syndrome -MONDO:0015988 multicystic dysplastic kidney MONDO:0019720 Orphanet:1851 Orphanet:93546 obsolete non-syndromic renal or urinary tract malformation -MONDO:0015988 multicystic dysplastic kidney MONDO:8000030 Orphanet:1851 Orphanet:377791 obsolete morphological anomaly -MONDO:0015993 cone-rod dystrophy MONDO:0022399 Orphanet:1872 Orphanet:156171 obsolete retinal ciliopathy due to mutation in the RPGR gene -MONDO:0015993 cone-rod dystrophy MONDO:0022400 Orphanet:1872 Orphanet:156174 obsolete retinal ciliopathy due to mutation in the RPGRIP gene -MONDO:0015995 melorheostosis with osteopoikilosis MONDO:8000032 Orphanet:1879 Orphanet:377789 obsolete malformation syndrome -MONDO:0015997 ectopia lentis-chorioretinal dystrophy-myopia syndrome MONDO:0020225 Orphanet:1884 Orphanet:98641 obsolete syndromic cataract -MONDO:0015998 isolated ectopia lentis MONDO:0020236 Orphanet:1885 Orphanet:98653 obsolete lens position anomaly -MONDO:0015998 isolated ectopia lentis MONDO:8000032 Orphanet:1885 Orphanet:377789 obsolete malformation syndrome -MONDO:0016000 familial isolated hypoparathyroidism due to impaired PTH secretion MONDO:8000031 Orphanet:189466 Orphanet:557494 obsolete subtype of a disorder -MONDO:0016001 2-hydroxyglutaric aciduria MONDO:0016399 Orphanet:19 Orphanet:225689 obsolete amino acid or protein metabolism disease with epilepsy -MONDO:0016001 2-hydroxyglutaric aciduria MONDO:0019058 Orphanet:19 Orphanet:68385 obsolete neurometabolic disease -MONDO:0016001 2-hydroxyglutaric aciduria MONDO:0019213 Orphanet:19 Orphanet:79158 obsolete cerebral organic aciduria -MONDO:0016002 Ehlers-Danlos syndrome, kyphoscoliotic type 1 MONDO:0034024 Orphanet:1900 Orphanet:536545 obsolete kyphoscoliotic Ehlers-Danlos syndrome -MONDO:0016002 Ehlers-Danlos syndrome, kyphoscoliotic type 1 MONDO:8000031 Orphanet:1900 Orphanet:557494 obsolete subtype of a disorder -MONDO:0016004 aminopterin/methotrexate embryofetopathy MONDO:0015323 Orphanet:1908 Orphanet:138059 obsolete teratogenic Pierre Robin syndrome -MONDO:0016004 aminopterin/methotrexate embryofetopathy MONDO:8000032 Orphanet:1908 Orphanet:377789 obsolete malformation syndrome -MONDO:0016005 indomethacin embryofetopathy MONDO:0015323 Orphanet:1909 Orphanet:138059 obsolete teratogenic Pierre Robin syndrome -MONDO:0016005 indomethacin embryofetopathy MONDO:8000032 Orphanet:1909 Orphanet:377789 obsolete malformation syndrome -MONDO:0016006 Cockayne syndrome MONDO:0015331 Orphanet:191 Orphanet:139027 obsolete malformation syndrome with skin/mucosae involvement -MONDO:0016006 Cockayne syndrome MONDO:0015918 Orphanet:191 Orphanet:182070 obsolete rare neurodegenerative disease -MONDO:0016006 Cockayne syndrome MONDO:0015945 Orphanet:191 Orphanet:183422 obsolete polymalformative genetic syndrome with increased risk of developing cancer -MONDO:0016006 Cockayne syndrome MONDO:0019589 Orphanet:191 Orphanet:90642 obsolete syndromic genetic hearing loss -MONDO:0016006 Cockayne syndrome MONDO:0020240 Orphanet:191 Orphanet:98661 obsolete syndromic retinitis pigmentosa -MONDO:0016006 Cockayne syndrome MONDO:0031689 Orphanet:191 Orphanet:363245 obsolete genetic progeroid syndrome -MONDO:0016006 Cockayne syndrome MONDO:0035863 Orphanet:191 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0016007 cocaine embryofetopathy MONDO:0015323 Orphanet:1911 Orphanet:138059 obsolete teratogenic Pierre Robin syndrome -MONDO:0016007 cocaine embryofetopathy MONDO:8000032 Orphanet:1911 Orphanet:377789 obsolete malformation syndrome -MONDO:0016008 fetal hydantoin syndrome MONDO:0015323 Orphanet:1912 Orphanet:138059 obsolete teratogenic Pierre Robin syndrome -MONDO:0016008 fetal hydantoin syndrome MONDO:0018262 Orphanet:1912 Orphanet:370068 obsolete fetal anticonvulsant syndrome -MONDO:0016008 fetal hydantoin syndrome MONDO:8000032 Orphanet:1912 Orphanet:377789 obsolete malformation syndrome -MONDO:0016009 fetal trimethadione syndrome MONDO:0015323 Orphanet:1913 Orphanet:138059 obsolete teratogenic Pierre Robin syndrome -MONDO:0016009 fetal trimethadione syndrome MONDO:0018262 Orphanet:1913 Orphanet:370068 obsolete fetal anticonvulsant syndrome -MONDO:0016009 fetal trimethadione syndrome MONDO:8000032 Orphanet:1913 Orphanet:377789 obsolete malformation syndrome -MONDO:0016010 vitamin K-antagonist embryofetopathy MONDO:0015323 Orphanet:1914 Orphanet:138059 obsolete teratogenic Pierre Robin syndrome -MONDO:0016010 vitamin K-antagonist embryofetopathy MONDO:8000032 Orphanet:1914 Orphanet:377789 obsolete malformation syndrome -MONDO:0016011 fetal alcohol syndrome MONDO:0015323 Orphanet:1915 Orphanet:138059 obsolete teratogenic Pierre Robin syndrome -MONDO:0016011 fetal alcohol syndrome MONDO:8000032 Orphanet:1915 Orphanet:377789 obsolete malformation syndrome -MONDO:0016012 diethylstilbestrol syndrome MONDO:0015829 Orphanet:1916 Orphanet:180065 obsolete non-syndromic uterovaginal malformation -MONDO:0016012 diethylstilbestrol syndrome MONDO:0018403 Orphanet:1916 Orphanet:399882 obsolete female infertility due to an implantation defect -MONDO:0016012 diethylstilbestrol syndrome MONDO:8000032 Orphanet:1916 Orphanet:377789 obsolete malformation syndrome -MONDO:0016013 fetal methylmercury syndrome MONDO:0015323 Orphanet:1917 Orphanet:138059 obsolete teratogenic Pierre Robin syndrome -MONDO:0016013 fetal methylmercury syndrome MONDO:8000032 Orphanet:1917 Orphanet:377789 obsolete malformation syndrome -MONDO:0016014 fetal minoxidil syndrome MONDO:0015323 Orphanet:1918 Orphanet:138059 obsolete teratogenic Pierre Robin syndrome -MONDO:0016014 fetal minoxidil syndrome MONDO:8000032 Orphanet:1918 Orphanet:377789 obsolete malformation syndrome -MONDO:0016015 phenobarbital embryopathy MONDO:0015323 Orphanet:1919 Orphanet:138059 obsolete teratogenic Pierre Robin syndrome -MONDO:0016015 phenobarbital embryopathy MONDO:0018262 Orphanet:1919 Orphanet:370068 obsolete fetal anticonvulsant syndrome -MONDO:0016015 phenobarbital embryopathy MONDO:8000032 Orphanet:1919 Orphanet:377789 obsolete malformation syndrome -MONDO:0016016 toluene embryopathy MONDO:0015323 Orphanet:1920 Orphanet:138059 obsolete teratogenic Pierre Robin syndrome -MONDO:0016016 toluene embryopathy MONDO:8000032 Orphanet:1920 Orphanet:377789 obsolete malformation syndrome -MONDO:0016017 methimazole embryofetopathy MONDO:0015323 Orphanet:1923 Orphanet:138059 obsolete teratogenic Pierre Robin syndrome -MONDO:0016017 methimazole embryofetopathy MONDO:8000032 Orphanet:1923 Orphanet:377789 obsolete malformation syndrome -MONDO:0016018 diabetic embryopathy MONDO:0015323 Orphanet:1926 Orphanet:138059 obsolete teratogenic Pierre Robin syndrome -MONDO:0016018 diabetic embryopathy MONDO:0016678 Orphanet:1926 Orphanet:251535 obsolete maternal disease-related embryofetopathy -MONDO:0016018 diabetic embryopathy MONDO:8000032 Orphanet:1926 Orphanet:377789 obsolete malformation syndrome -MONDO:0016019 Rasmussen subacute encephalitis MONDO:0015657 Orphanet:1929 Orphanet:166484 obsolete inflammatory and autoimmune disease with epilepsy -MONDO:0016019 Rasmussen subacute encephalitis MONDO:0020069 Orphanet:1929 Orphanet:98255 obsolete chronic encephalitis -MONDO:0016020 frontal encephalocele MONDO:8000031 Orphanet:1931 Orphanet:557494 obsolete subtype of a disorder -MONDO:0016022 early myoclonic encephalopathy MONDO:0032013 Orphanet:1935 Orphanet:377792 obsolete clinical syndrome -MONDO:0016025 myoclonic-astatic epilepsy MONDO:0035862 Orphanet:1942 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome -MONDO:0016031 facial dysmorphism-anorexia-cachexia-eye and skin anomalies syndrome MONDO:0043008 Orphanet:1969 Orphanet:330206 obsolete genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability -MONDO:0016031 facial dysmorphism-anorexia-cachexia-eye and skin anomalies syndrome MONDO:8000032 Orphanet:1969 Orphanet:377789 obsolete malformation syndrome -MONDO:0016032 femoral agenesis/hypoplasia MONDO:0017420 Orphanet:1987 Orphanet:294927 obsolete intercalary limb defects -MONDO:0016032 femoral agenesis/hypoplasia MONDO:8000032 Orphanet:1987 Orphanet:377789 obsolete malformation syndrome -MONDO:0016033 Cornelia de Lange syndrome MONDO:0015216 Orphanet:199 Orphanet:108979 obsolete syndromic diaphragmatic or abdominal wall malformation -MONDO:0016033 Cornelia de Lange syndrome MONDO:0015329 Orphanet:199 Orphanet:139021 obsolete malformation syndrome with short stature -MONDO:0016033 Cornelia de Lange syndrome MONDO:0015880 Orphanet:199 Orphanet:180779 obsolete syndromic diaphragmatic or thoracic malformation -MONDO:0016033 Cornelia de Lange syndrome MONDO:0017432 Orphanet:199 Orphanet:294955 obsolete syndrome with limb reduction defects -MONDO:0016033 Cornelia de Lange syndrome MONDO:0020169 Orphanet:199 Orphanet:98578 obsolete rare disorder with ptosis -MONDO:0016033 Cornelia de Lange syndrome MONDO:0024149 Orphanet:199 Orphanet:138055 obsolete Pierre Robin syndrome associated with bone disease -MONDO:0016033 Cornelia de Lange syndrome MONDO:0026187 Orphanet:199 Orphanet:183570 obsolete genetic malformation syndrome with short stature -MONDO:0016033 Cornelia de Lange syndrome MONDO:0035863 Orphanet:199 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0016033 Cornelia de Lange syndrome MONDO:8000032 Orphanet:199 Orphanet:377789 obsolete malformation syndrome -MONDO:0016034 obsolete cleft lip with or without cleft palate MONDO:0015475 Orphanet:1991 Orphanet:155832 obsolete rare head and neck malformation -MONDO:0016034 obsolete cleft lip with or without cleft palate MONDO:0019038 Orphanet:1991 Orphanet:68329 obsolete rare maxillo-facial surgical disease -MONDO:0016035 Nelson syndrome MONDO:0032013 Orphanet:199244 Orphanet:377792 obsolete clinical syndrome -MONDO:0016037 superficial Fibromatosis MONDO:0019300 Orphanet:199257 Orphanet:79386 obsolete rare skin tumor or hamartoma -MONDO:0016040 harlequin syndrome MONDO:0018497 Orphanet:199282 Orphanet:423662 obsolete rare autonomic nervous system disorder -MONDO:0016040 harlequin syndrome MONDO:0018557 Orphanet:199282 Orphanet:434786 obsolete rare genetic autonomic nervous system disorder -MONDO:0016041 congenital microgastria MONDO:0015209 Orphanet:199293 Orphanet:108963 obsolete non-syndromic gastroduodenal malformation -MONDO:0016041 congenital microgastria MONDO:8000030 Orphanet:199293 Orphanet:377791 obsolete morphological anomaly -MONDO:0016043 isolated cleft lip MONDO:0016034 Orphanet:199302 Orphanet:1991 obsolete cleft lip with or without cleft palate -MONDO:0016043 isolated cleft lip MONDO:8000030 Orphanet:199302 Orphanet:377791 obsolete morphological anomaly -MONDO:0016044 cleft lip/palate MONDO:0016034 Orphanet:199306 Orphanet:1991 obsolete cleft lip with or without cleft palate -MONDO:0016044 cleft lip/palate MONDO:8000030 Orphanet:199306 Orphanet:377791 obsolete morphological anomaly -MONDO:0016045 tetragametic chimerism MONDO:0017006 Orphanet:199310 Orphanet:263749 obsolete X and Y chromosomal anomaly -MONDO:0016045 tetragametic chimerism MONDO:0017978 Orphanet:199310 Orphanet:325638 obsolete syndrome with disorder of sex development of gynecological interest -MONDO:0016045 tetragametic chimerism MONDO:8000032 Orphanet:199310 Orphanet:377789 obsolete malformation syndrome -MONDO:0016046 familial clubfoot with or without associated lower limb anomalies MONDO:0015226 Orphanet:199315 Orphanet:109009 obsolete syndrome with limb malformations as a major feature -MONDO:0016046 familial clubfoot with or without associated lower limb anomalies MONDO:0018235 Orphanet:199315 Orphanet:364568 obsolete dysostosis with limb anomaly as a major feature -MONDO:0016046 familial clubfoot with or without associated lower limb anomalies MONDO:0018455 Orphanet:199315 Orphanet:404571 obsolete dysostosis of genetic origin with limb anomaly as a major feature -MONDO:0016046 familial clubfoot with or without associated lower limb anomalies MONDO:8000032 Orphanet:199315 Orphanet:377789 obsolete malformation syndrome -MONDO:0016048 isolated autosomal dominant hypomagnesemia, Glaudemans type MONDO:0019744 Orphanet:199326 Orphanet:93603 obsolete rare renal tubular disease -MONDO:0016051 cleft lip-retinopathy syndrome MONDO:0015335 Orphanet:1995 Orphanet:139039 obsolete Mendelian syndromes with cleft lip/palate -MONDO:0016051 cleft lip-retinopathy syndrome MONDO:0034953 Orphanet:1995 Orphanet:519325 obsolete syndromic inherited retinal disorder -MONDO:0016051 cleft lip-retinopathy syndrome MONDO:0043008 Orphanet:1995 Orphanet:330206 obsolete genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability -MONDO:0016051 cleft lip-retinopathy syndrome MONDO:8000032 Orphanet:1995 Orphanet:377789 obsolete malformation syndrome -MONDO:0016052 atypical autism MONDO:0015680 Orphanet:199627 Orphanet:168778 obsolete rare pervasive developmental disorder -MONDO:0016053 isolated cerebellar vermis hypoplasia MONDO:0020130 Orphanet:199630 Orphanet:98514 obsolete malformation of the cerebellar vermis -MONDO:0016053 isolated cerebellar vermis hypoplasia MONDO:8000030 Orphanet:199630 Orphanet:377791 obsolete morphological anomaly -MONDO:0016054 obsolete cerebral malformation MONDO:0015219 Orphanet:199633 Orphanet:108989 obsolete non-syndromic central nervous system malformation -MONDO:0016055 obsolete syndrome with corpus callosum agenesis /dysgenesis as a major feature MONDO:0015220 Orphanet:199639 Orphanet:108991 obsolete syndrome with a central nervous system malformation as major feature -MONDO:0016056 isolated congenital microcephaly MONDO:0016054 Orphanet:199642 Orphanet:199633 obsolete cerebral malformation -MONDO:0016056 isolated congenital microcephaly MONDO:8000032 Orphanet:199642 Orphanet:377789 obsolete malformation syndrome -MONDO:0016057 isolated encephalocele MONDO:8000030 Orphanet:199647 Orphanet:377791 obsolete morphological anomaly -MONDO:0016058 paroxysmal dystonia MONDO:0017657 Orphanet:200037 Orphanet:306768 obsolete rare paroxysmal movement disorder -MONDO:0016059 cleft lip/palate-deafness-sacral lipoma syndrome MONDO:0015335 Orphanet:2003 Orphanet:139039 obsolete Mendelian syndromes with cleft lip/palate -MONDO:0016059 cleft lip/palate-deafness-sacral lipoma syndrome MONDO:0019589 Orphanet:2003 Orphanet:90642 obsolete syndromic genetic hearing loss -MONDO:0016059 cleft lip/palate-deafness-sacral lipoma syndrome MONDO:8000032 Orphanet:2003 Orphanet:377789 obsolete malformation syndrome -MONDO:0016060 laryngotracheoesophageal cleft MONDO:0015207 Orphanet:2004 Orphanet:108959 obsolete non-syndromic esophageal malformation -MONDO:0016060 laryngotracheoesophageal cleft MONDO:0015221 Orphanet:2004 Orphanet:108993 obsolete non-syndromic respiratory or mediastinal malformation -MONDO:0016060 laryngotracheoesophageal cleft MONDO:0015504 Orphanet:2004 Orphanet:156249 obsolete larynx anomaly -MONDO:0016060 laryngotracheoesophageal cleft MONDO:0015930 Orphanet:2004 Orphanet:182111 obsolete respiratory malformation -MONDO:0016060 laryngotracheoesophageal cleft MONDO:8000030 Orphanet:2004 Orphanet:377791 obsolete morphological anomaly -MONDO:0016061 immunodeficiency with factor H anomaly MONDO:0018727 Orphanet:200421 Orphanet:459348 obsolete immunodeficiency due to a complement regulatory deficiency -MONDO:0016062 median cleft lip/mandibule MONDO:0015412 Orphanet:2006 Orphanet:141234 obsolete median facial cleft -MONDO:0016062 median cleft lip/mandibule MONDO:8000030 Orphanet:2006 Orphanet:377791 obsolete morphological anomaly -MONDO:0016063 Cowden disease MONDO:0017128 Orphanet:201 Orphanet:271835 obsolete inherited digestive tract tumor -MONDO:0016063 Cowden disease MONDO:0017414 Orphanet:201 Orphanet:294057 obsolete rare nevus -MONDO:0016063 Cowden disease MONDO:0035645 Orphanet:201 Orphanet:589746 obsolete inherited gynecological cancer-predisposing syndrome -MONDO:0016064 cleft palate MONDO:0015475 Orphanet:2014 Orphanet:155832 obsolete rare head and neck malformation -MONDO:0016064 cleft palate MONDO:0019038 Orphanet:2014 Orphanet:68329 obsolete rare maxillo-facial surgical disease -MONDO:0016065 cleft palate-short stature-vertebral anomalies syndrome MONDO:0015335 Orphanet:2015 Orphanet:139039 obsolete Mendelian syndromes with cleft lip/palate -MONDO:0016065 cleft palate-short stature-vertebral anomalies syndrome MONDO:0035863 Orphanet:2015 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0016065 cleft palate-short stature-vertebral anomalies syndrome MONDO:8000032 Orphanet:2015 Orphanet:377789 obsolete malformation syndrome -MONDO:0016066 sternal cleft MONDO:0015879 Orphanet:2017 Orphanet:180776 obsolete non-syndromic diaphragmatic or thoracic malformation -MONDO:0016066 sternal cleft MONDO:8000030 Orphanet:2017 Orphanet:377791 obsolete morphological anomaly -MONDO:0016067 Crandall syndrome MONDO:0019282 Orphanet:202 Orphanet:79367 obsolete syndromic hair shaft abnormality -MONDO:0016068 fibrochondrogenesis MONDO:0019697 Orphanet:2021 Orphanet:93438 obsolete mesomelic and rhizo-mesomelic dysplasia -MONDO:0016068 fibrochondrogenesis MONDO:0800087 Orphanet:2021 Orphanet:93422 obsolete type 11 collagen-related bone disorder -MONDO:0016070 hereditary gingival fibromatosis MONDO:0015603 Orphanet:2024 Orphanet:164001 obsolete rare odontal or periodontal disorder -MONDO:0016070 hereditary gingival fibromatosis MONDO:0018488 Orphanet:2024 Orphanet:420755 obsolete rare genetic odontal or periodontal disorder -MONDO:0016070 hereditary gingival fibromatosis MONDO:0026190 Orphanet:2024 Orphanet:183580 obsolete genetic malformation syndrome with odontal and/or periodontal component -MONDO:0016070 hereditary gingival fibromatosis MONDO:8000032 Orphanet:2024 Orphanet:377789 obsolete malformation syndrome -MONDO:0016071 juvenile hyaline fibromatosis MONDO:0015336 Orphanet:2028 Orphanet:139042 obsolete malformation syndrome with odontal and/or periodontal component -MONDO:0016071 juvenile hyaline fibromatosis MONDO:0018798 Orphanet:2028 Orphanet:477808 obsolete other genetic dermis disorder -MONDO:0016071 juvenile hyaline fibromatosis MONDO:0019099 Orphanet:2028 Orphanet:71209 obsolete rare soft tissue tumor -MONDO:0016071 juvenile hyaline fibromatosis MONDO:0026190 Orphanet:2028 Orphanet:183580 obsolete genetic malformation syndrome with odontal and/or periodontal component -MONDO:0016071 juvenile hyaline fibromatosis MONDO:8000031 Orphanet:2028 Orphanet:557494 obsolete subtype of a disorder -MONDO:0016072 obsolete anomaly of puberty or/and menstrual cycle of genetic origin MONDO:0015980 Orphanet:202940 Orphanet:183731 obsolete rare genetic gynecological and obstetrical diseases -MONDO:0016073 syndromic microphthalmia MONDO:0020147 Orphanet:202948 Orphanet:98555 obsolete anophthalmia-microphthalmia syndrome -MONDO:0016075 filariasis MONDO:0015577 Orphanet:2034 Orphanet:163588 obsolete rare parasitic disease -MONDO:0016077 congenital aortopulmonary window MONDO:8000030 Orphanet:2037 Orphanet:377791 obsolete morphological anomaly -MONDO:0016078 congenital systemic arteriovenous fistula MONDO:8000030 Orphanet:2039 Orphanet:377791 obsolete morphological anomaly -MONDO:0016079 sporadic Creutzfeldt-Jakob disease MONDO:0017641 Orphanet:204 Orphanet:306695 obsolete miscellaneous movement disorder due to neurodegenerative disease -MONDO:0016079 sporadic Creutzfeldt-Jakob disease MONDO:0035561 Orphanet:204 Orphanet:576356 obsolete sporadic human prion disease -MONDO:0016080 congenital bronchobiliary fistula MONDO:0015116 Orphanet:2040 Orphanet:101941 obsolete rare biliary tract disease -MONDO:0016080 congenital bronchobiliary fistula MONDO:0015213 Orphanet:2040 Orphanet:108971 obsolete non-syndromic visceral malformation -MONDO:0016080 congenital bronchobiliary fistula MONDO:0015221 Orphanet:2040 Orphanet:108993 obsolete non-syndromic respiratory or mediastinal malformation -MONDO:0016080 congenital bronchobiliary fistula MONDO:0015930 Orphanet:2040 Orphanet:182111 obsolete respiratory malformation -MONDO:0016080 congenital bronchobiliary fistula MONDO:8000030 Orphanet:2040 Orphanet:377791 obsolete morphological anomaly -MONDO:0016081 coronary arterial fistulas MONDO:8000030 Orphanet:2041 Orphanet:377791 obsolete morphological anomaly -MONDO:0016083 FLOTCH syndrome MONDO:0019285 Orphanet:2045 Orphanet:79370 obsolete syndromic nail anomaly -MONDO:0016085 Cole-Carpenter syndrome MONDO:0019704 Orphanet:2050 Orphanet:93446 obsolete primary bone dysplasia with decreased bone density -MONDO:0016085 Cole-Carpenter syndrome MONDO:0020018 Orphanet:2050 Orphanet:98038 obsolete cranial malformation -MONDO:0016085 Cole-Carpenter syndrome MONDO:0026182 Orphanet:2050 Orphanet:183542 obsolete genetic cranial malformation -MONDO:0016085 Cole-Carpenter syndrome MONDO:0043008 Orphanet:2050 Orphanet:330206 obsolete genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability -MONDO:0016085 Cole-Carpenter syndrome MONDO:8000032 Orphanet:2050 Orphanet:377789 obsolete malformation syndrome -MONDO:0016087 progressive non-infectious anterior vertebral fusion MONDO:0019711 Orphanet:2062 Orphanet:93454 obsolete dysostosis with predominant vertebral and costal involvement -MONDO:0016087 progressive non-infectious anterior vertebral fusion MONDO:8000032 Orphanet:2062 Orphanet:377789 obsolete malformation syndrome -MONDO:0016088 hypoxanthine-guanine phosphoribosyltransferase deficiency MONDO:0019058 Orphanet:206428 Orphanet:68385 obsolete neurometabolic disease -MONDO:0016088 hypoxanthine-guanine phosphoribosyltransferase deficiency MONDO:0019743 Orphanet:206428 Orphanet:93593 obsolete nephropathy secondary to a storage or other metabolic disease -MONDO:0016088 hypoxanthine-guanine phosphoribosyltransferase deficiency MONDO:0035862 Orphanet:206428 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome -MONDO:0016089 infantile Krabbe disease MONDO:8000031 Orphanet:206436 Orphanet:557494 obsolete subtype of a disorder -MONDO:0016090 late-infantile/juvenile Krabbe disease MONDO:8000031 Orphanet:206443 Orphanet:557494 obsolete subtype of a disorder -MONDO:0016091 adult Krabbe disease MONDO:8000031 Orphanet:206448 Orphanet:557494 obsolete subtype of a disorder -MONDO:0016092 serous or mucinous cystadenoma of childhood MONDO:0019965 Orphanet:206470 Orphanet:97293 obsolete rare benign ovarian tumor -MONDO:0016094 vaginal germ cell malignant tumor MONDO:0015876 Orphanet:206489 Orphanet:180312 obsolete rare vulvovaginal tumor -MONDO:0016095 vaginal rhabdomyosarcoma MONDO:0015876 Orphanet:206492 Orphanet:180312 obsolete rare vulvovaginal tumor -MONDO:0016097 symptomatic form of muscular dystrophy of Duchenne and Becker in female carriers MONDO:0016899 Orphanet:206546 Orphanet:262 obsolete Duchenne and Becker muscular dystrophy -MONDO:0016100 rippling muscle disease with myasthenia gravis MONDO:0018743 Orphanet:206575 Orphanet:464764 obsolete immune-mediated acquired neuromuscular junction disease -MONDO:0016101 neurolymphomatosis MONDO:0016138 Orphanet:206586 Orphanet:207046 obsolete malignant lymphoma with peripheral neuropathy -MONDO:0016102 subacute inflammatory demyelinating polyneuropathy MONDO:0016137 Orphanet:206594 Orphanet:207038 obsolete acute and subacute inflammatory demyelinating polyneuropathy -MONDO:0016103 isolated asymptomatic elevation of creatine phosphokinase MONDO:0032011 Orphanet:206599 Orphanet:377790 obsolete biological anomaly -MONDO:0016104 obsolete infectious disease with peripheral neuropathy MONDO:0015923 Orphanet:206613 Orphanet:182086 acquired peripheral neuropathy -MONDO:0016109 obsolete autosomal recessive distal myopathy MONDO:0018949 Orphanet:206653 Orphanet:599 distal myopathy -MONDO:0016112 hereditary inclusion-body myopathy MONDO:0016110 Orphanet:206662 Orphanet:206656 obsolete non-dystrophic myopathy -MONDO:0016114 obsolete bulbospinal muscular atrophy of childhood MONDO:0016113 Orphanet:206704 Orphanet:206701 bulbospinal muscular atrophy -MONDO:0016115 obsolete bulbospinal muscular atrophy of adulthood MONDO:0016113 Orphanet:206707 Orphanet:206701 bulbospinal muscular atrophy -MONDO:0016116 obsolete generalized bulbospinal muscular atrophy MONDO:0016113 Orphanet:206710 Orphanet:206701 bulbospinal muscular atrophy -MONDO:0016117 obsolete muscular lipidosis MONDO:0020123 Orphanet:206953 Orphanet:98486 metabolic myopathy -MONDO:0016118 obsolete muscular glycogenosis MONDO:0020123 Orphanet:206959 Orphanet:98486 metabolic myopathy -MONDO:0016121 obsolete congenital myotonia MONDO:0016120 Orphanet:206973 Orphanet:206970 myotonic syndrome -MONDO:0016123 obsolete muscular tumor MONDO:0016105 Orphanet:206982 Orphanet:206638 acquired skeletal muscle disease -MONDO:0016125 obsolete infectious, fungal or parasitic myopathy MONDO:0016105 Orphanet:206988 Orphanet:206638 acquired skeletal muscle disease -MONDO:0016126 viral myositis MONDO:0016125 Orphanet:206991 Orphanet:206988 obsolete infectious, fungal or parasitic myopathy -MONDO:0016127 bacterial myositis MONDO:0016125 Orphanet:206994 Orphanet:206988 obsolete infectious, fungal or parasitic myopathy -MONDO:0016128 parasitic myositis MONDO:0016125 Orphanet:206997 Orphanet:206988 obsolete infectious, fungal or parasitic myopathy -MONDO:0016129 eosinophilic gastroenteritis MONDO:0015111 Orphanet:2070 Orphanet:101936 obsolete gastroesophageal disease -MONDO:0016130 fungal myositis MONDO:0016125 Orphanet:207000 Orphanet:206988 obsolete infectious, fungal or parasitic myopathy -MONDO:0016131 obsolete spinal muscular atrophy associated with central nervous system anomaly MONDO:0016113 Orphanet:207012 Orphanet:206701 bulbospinal muscular atrophy -MONDO:0016132 obsolete rare hereditary disease with peripheral neuropathy MONDO:0020127 Orphanet:207015 Orphanet:98497 hereditary peripheral neuropathy -MONDO:0016133 obsolete rare hereditary metabolic disease with peripheral neuropathy MONDO:0016132 Orphanet:207018 Orphanet:207015 obsolete rare hereditary disease with peripheral neuropathy -MONDO:0016134 obsolete rare hereditary systemic disease with peripheral neuropathy MONDO:0016132 Orphanet:207021 Orphanet:207015 obsolete rare hereditary disease with peripheral neuropathy -MONDO:0016135 obsolete rare hereditary neurologic disease with peripheral neuropathy MONDO:0016132 Orphanet:207025 Orphanet:207015 obsolete rare hereditary disease with peripheral neuropathy -MONDO:0016136 obsolete cerebellar ataxia with peripheral neuropathy MONDO:0016135 Orphanet:207028 Orphanet:207025 obsolete rare hereditary neurologic disease with peripheral neuropathy -MONDO:0016137 obsolete acute and subacute inflammatory demyelinating polyneuropathy MONDO:0015923 Orphanet:207038 Orphanet:182086 acquired peripheral neuropathy -MONDO:0016138 obsolete malignant lymphoma with peripheral neuropathy MONDO:0016180 Orphanet:207046 Orphanet:209016 obsolete hematological disease associated with an acquired peripheral neuropathy -MONDO:0016139 qualitative or quantitative protein defects in neuromuscular diseases MONDO:0026167 Orphanet:207049 Orphanet:183497 obsolete genetic neuromuscular disease -MONDO:0016149 obsolete qualitative or quantitative defects of merosin MONDO:0016139 Orphanet:207094 Orphanet:207049 qualitative or quantitative protein defects in neuromuscular diseases -MONDO:0016150 obsolete qualitative or quantitative defects of integrin alpha-7 MONDO:0016139 Orphanet:207098 Orphanet:207049 qualitative or quantitative protein defects in neuromuscular diseases -MONDO:0016152 obsolete qualitative or quantitative defects of calpain MONDO:0016139 Orphanet:207104 Orphanet:207049 qualitative or quantitative protein defects in neuromuscular diseases -MONDO:0016154 obsolete qualitative or quantitative defects of myotubularin MONDO:0016139 Orphanet:207110 Orphanet:207049 qualitative or quantitative protein defects in neuromuscular diseases -MONDO:0016157 obsolete qualitative or quantitative defects of fukutin MONDO:0016155 Orphanet:207122 Orphanet:207113 qualitative or quantitative defects of protein involved in O-glycosylation of alpha-dystroglycan -MONDO:0016159 Gemignani syndrome MONDO:0019589 Orphanet:2074 Orphanet:90642 obsolete syndromic genetic hearing loss -MONDO:0016159 Gemignani syndrome MONDO:8000032 Orphanet:2074 Orphanet:377789 obsolete malformation syndrome -MONDO:0016160 X-linked intellectual disability-epilepsy syndrome MONDO:0035862 Orphanet:2076 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome -MONDO:0016162 bilateral frontal polymicrogyria MONDO:8000031 Orphanet:208444 Orphanet:557494 obsolete subtype of a disorder -MONDO:0016164 herpetiform pemphigus MONDO:0018745 Orphanet:208524 Orphanet:46485 obsolete superficial pemphigus -MONDO:0016165 hereditary hypoparathyroidism MONDO:0015970 Orphanet:208593 Orphanet:183634 obsolete rare genetic parathyroid disease and phosphocalcic metabolism disorder -MONDO:0016166 hereditary hyperparathyroidism MONDO:0015970 Orphanet:208596 Orphanet:183634 obsolete rare genetic parathyroid disease and phosphocalcic metabolism disorder -MONDO:0016167 optic pathway glioma MONDO:0019833 Orphanet:2086 Orphanet:95503 obsolete pituitary hormone deficiency from tumoral origin -MONDO:0016168 cryopyrin-associated periodic syndrome MONDO:0017369 Orphanet:208650 Orphanet:290839 obsolete autoinflammatory syndrome with immune deficiency -MONDO:0016168 cryopyrin-associated periodic syndrome MONDO:0017370 Orphanet:208650 Orphanet:290842 obsolete autoinflammatory syndrome with skin involvement -MONDO:0016169 obsolete chronic acquired demyelinating polyneuropathy MONDO:0015923 Orphanet:208974 Orphanet:182086 acquired peripheral neuropathy -MONDO:0016170 obsolete chronic polyradiculoneuropathy MONDO:0016169 Orphanet:208978 Orphanet:208974 obsolete chronic acquired demyelinating polyneuropathy -MONDO:0016172 obsolete acquired sensory ganglionopathy MONDO:0015923 Orphanet:208984 Orphanet:182086 acquired peripheral neuropathy -MONDO:0016173 obsolete non-paraneoplastic sensory ganglionopathy MONDO:0000001 Orphanet:208989 Orphanet:377788 disease -MONDO:0016173 obsolete non-paraneoplastic sensory ganglionopathy MONDO:0016172 Orphanet:208989 Orphanet:208984 obsolete acquired sensory ganglionopathy -MONDO:0016174 obsolete paraneoplastic sensory ganglionopathy MONDO:0000001 Orphanet:208999 Orphanet:377788 disease -MONDO:0016174 obsolete paraneoplastic sensory ganglionopathy MONDO:0016172 Orphanet:208999 Orphanet:208984 obsolete acquired sensory ganglionopathy -MONDO:0016174 obsolete paraneoplastic sensory ganglionopathy MONDO:0018215 Orphanet:208999 Orphanet:36388 paraneoplastic neurologic syndrome -MONDO:0016175 cutis laxa MONDO:0015216 Orphanet:209 Orphanet:108979 obsolete syndromic diaphragmatic or abdominal wall malformation -MONDO:0016175 cutis laxa MONDO:0015331 Orphanet:209 Orphanet:139027 obsolete malformation syndrome with skin/mucosae involvement -MONDO:0016175 cutis laxa MONDO:0015332 Orphanet:209 Orphanet:139030 obsolete rare developmental defect with connective tissue involvement -MONDO:0016175 cutis laxa MONDO:0015880 Orphanet:209 Orphanet:180779 obsolete syndromic diaphragmatic or thoracic malformation -MONDO:0016176 axonal polyneuropathy associated with IgG/IgM/IgA monoclonal gammopathy MONDO:0016178 Orphanet:209004 Orphanet:209010 obsolete peripheral neuropathy associated with monoclonal gammopathy -MONDO:0016177 obsolete systemic inflammatory disease associated with an acquired peripheral neuropathy MONDO:0015923 Orphanet:209007 Orphanet:182086 acquired peripheral neuropathy -MONDO:0016178 obsolete peripheral neuropathy associated with monoclonal gammopathy MONDO:0015923 Orphanet:209010 Orphanet:182086 acquired peripheral neuropathy -MONDO:0016179 obsolete acquired amyloid peripheral neuropathy MONDO:0015923 Orphanet:209013 Orphanet:182086 acquired peripheral neuropathy -MONDO:0016180 obsolete hematological disease associated with an acquired peripheral neuropathy MONDO:0015923 Orphanet:209016 Orphanet:182086 acquired peripheral neuropathy -MONDO:0016181 obsolete solid tumor associated with an acquired peripheral neuropathy MONDO:0015923 Orphanet:209019 Orphanet:182086 acquired peripheral neuropathy -MONDO:0016182 obsolete qualitative or quantitative defects of protein O-mannose beta1, 2N-acetylglucosaminyltransferase MONDO:0016155 Orphanet:209024 Orphanet:207113 qualitative or quantitative defects of protein involved in O-glycosylation of alpha-dystroglycan -MONDO:0016183 obsolete qualitative or quantitative defects of protein glycosyltransferase-like MONDO:0016155 Orphanet:209027 Orphanet:207113 qualitative or quantitative defects of protein involved in O-glycosylation of alpha-dystroglycan -MONDO:0016196 obsolete qualitative or quantitative defects of emerin MONDO:0016139 Orphanet:209188 Orphanet:207049 qualitative or quantitative protein defects in neuromuscular diseases -MONDO:0016200 obsolete qualitative or quantitative defects of glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase MONDO:0016139 Orphanet:209203 Orphanet:207049 qualitative or quantitative protein defects in neuromuscular diseases -MONDO:0016201 obsolete qualitative or quantitative defects of myotilin MONDO:0016139 Orphanet:209224 Orphanet:207049 qualitative or quantitative protein defects in neuromuscular diseases -MONDO:0016201 obsolete qualitative or quantitative defects of myotilin MONDO:0018943 Orphanet:209224 Orphanet:593 myofibrillar myopathy -MONDO:0016203 hypercholesterolemia due to cholesterol 7alpha-hydroxylase deficiency MONDO:0018799 Orphanet:209902 Orphanet:477811 obsolete rare hypercholesterolemia -MONDO:0016204 idiopathic copper-associated cirrhosis MONDO:0015114 Orphanet:209919 Orphanet:101939 obsolete rare parenchymal liver disease -MONDO:0016205 IRVAN syndrome MONDO:0019110 Orphanet:209943 Orphanet:71281 obsolete rare central nervous system or retinal vascular disease -MONDO:0016208 solitary rectal ulcer syndrome MONDO:0015245 Orphanet:209964 Orphanet:117569 obsolete rare intestinal disease -MONDO:0016210 alternating hemiplegia MONDO:0019117 Orphanet:209978 Orphanet:71859 obsolete genetic nervous system disorder -MONDO:0016210 alternating hemiplegia MONDO:0020009 Orphanet:209978 Orphanet:98006 obsolete rare neurologic disease -MONDO:0016211 non-papillary transitional cell carcinoma of the bladder MONDO:0020032 Orphanet:209989 Orphanet:98058 obsolete rare urinary tract tumor -MONDO:0016213 leukonychia totalis-acanthosis-nigricans-like lesions-abnormal hair syndrome MONDO:0019285 Orphanet:210133 Orphanet:79370 obsolete syndromic nail anomaly -MONDO:0016214 pulmonary fibrosis-hepatic hyperplasia-bone marrow hypoplasia syndrome MONDO:0015114 Orphanet:210136 Orphanet:101939 obsolete rare parenchymal liver disease -MONDO:0016214 pulmonary fibrosis-hepatic hyperplasia-bone marrow hypoplasia syndrome MONDO:0017027 Orphanet:210136 Orphanet:264740 obsolete primary interstitial lung disease specific to adulthood -MONDO:0016215 spastic quadriplegic cerebral palsy MONDO:0019117 Orphanet:210141 Orphanet:71859 obsolete genetic nervous system disorder -MONDO:0016215 spastic quadriplegic cerebral palsy MONDO:0020009 Orphanet:210141 Orphanet:98006 obsolete rare neurologic disease -MONDO:0016217 mal de Debarquement MONDO:0020017 Orphanet:210272 Orphanet:98036 obsolete rare otorhinolaryngologic disease -MONDO:0016217 mal de Debarquement MONDO:0032013 Orphanet:210272 Orphanet:377792 obsolete clinical syndrome -MONDO:0016218 Guillain-Barre syndrome MONDO:0015916 Orphanet:2103 Orphanet:182064 obsolete rare neuroinflammatory or neuroimmunological disease -MONDO:0016218 Guillain-Barre syndrome MONDO:0016137 Orphanet:2103 Orphanet:207038 obsolete acute and subacute inflammatory demyelinating polyneuropathy -MONDO:0016219 dysmorphism-pectus carinatum-joint laxity syndrome MONDO:0043008 Orphanet:2104 Orphanet:330206 obsolete genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability -MONDO:0016219 dysmorphism-pectus carinatum-joint laxity syndrome MONDO:8000032 Orphanet:2104 Orphanet:377789 obsolete malformation syndrome -MONDO:0016220 congenital temporomandibular joint ankylosis MONDO:0016221 Orphanet:210576 Orphanet:210581 obsolete temporomandibular joint anomaly -MONDO:0016221 obsolete temporomandibular joint anomaly MONDO:0019038 Orphanet:210581 Orphanet:68329 obsolete rare maxillo-facial surgical disease -MONDO:0016222 spindle cell hemangioma MONDO:0016228 Orphanet:210584 Orphanet:211237 obsolete rare vascular tumor -MONDO:0016223 infantile hemangioma of rare localization MONDO:0016228 Orphanet:210589 Orphanet:211237 obsolete rare vascular tumor -MONDO:0016224 obsolete autosomal dominant proximal spinal muscular atrophy MONDO:0024257 Orphanet:211037 Orphanet:98505 hereditary motor neuron disease -MONDO:0016225 specific learning disability MONDO:0020009 Orphanet:211047 Orphanet:98006 obsolete rare neurologic disease -MONDO:0016228 obsolete rare vascular tumor MONDO:0019063 Orphanet:211237 Orphanet:68419 obsolete vascular anomaly -MONDO:0016228 obsolete rare vascular tumor MONDO:0020031 Orphanet:211237 Orphanet:98057 obsolete rare tumor -MONDO:0016229 obsolete hereditary vascular anomaly MONDO:0015960 Orphanet:211240 Orphanet:183530 obsolete rare genetic developmental defect during embryogenesis -MONDO:0016230 obsolete simple vascular malformation MONDO:0019063 Orphanet:211243 Orphanet:68419 obsolete vascular anomaly -MONDO:0016231 capillary malformation MONDO:0016230 Orphanet:211247 Orphanet:211243 obsolete simple vascular malformation -MONDO:0016232 obsolete rare venous malformation MONDO:0016230 Orphanet:211252 Orphanet:211243 obsolete simple vascular malformation -MONDO:0016233 obsolete rare lymphatic system malformation MONDO:0016230 Orphanet:211255 Orphanet:211243 obsolete simple vascular malformation -MONDO:0016234 obsolete rare arteriovenous malformation MONDO:0016230 Orphanet:211266 Orphanet:211243 obsolete simple vascular malformation -MONDO:0016235 obsolete complex vascular malformation with associated anomalies MONDO:0019063 Orphanet:211277 Orphanet:68419 obsolete vascular anomaly -MONDO:0016236 kaposiform hemangioendothelioma MONDO:0016228 Orphanet:2122 Orphanet:211237 obsolete rare vascular tumor -MONDO:0016236 kaposiform hemangioendothelioma MONDO:0019099 Orphanet:2122 Orphanet:71209 obsolete rare soft tissue tumor -MONDO:0016237 diffuse neonatal hemangiomatosis MONDO:0016228 Orphanet:2123 Orphanet:211237 obsolete rare vascular tumor -MONDO:0016237 diffuse neonatal hemangiomatosis MONDO:8000032 Orphanet:2123 Orphanet:377789 obsolete malformation syndrome -MONDO:0016240 hemimelia MONDO:0034667 Orphanet:2130 Orphanet:498457 obsolete longitudinal limb defect -MONDO:0016242 hemoglobin C disease MONDO:0034039 Orphanet:2132 Orphanet:466066 obsolete genetic hemoglobinopathy -MONDO:0016243 hemoglobin E disease MONDO:0034039 Orphanet:2133 Orphanet:466066 obsolete genetic hemoglobinopathy MONDO:0016250 obsolete rare adenocarcinoma of the breast MONDO:0000001 Orphanet:213528 Orphanet:377788 disease -MONDO:0016250 obsolete rare adenocarcinoma of the breast MONDO:0015870 Orphanet:213528 Orphanet:180257 obsolete rare malignant breast tumor -MONDO:0016252 obsolete rare uterine cancer MONDO:0020037 Orphanet:213564 Orphanet:98063 obsolete rare gynecological tumor -MONDO:0016253 obsolete rare cancer of corpus uteri MONDO:0016252 Orphanet:213569 Orphanet:213564 obsolete rare uterine cancer -MONDO:0016255 uterine corpus mixed epithelial and mesenchymal neoplasm MONDO:0016253 Orphanet:213589 Orphanet:213569 obsolete rare cancer of corpus uteri -MONDO:0016256 Hennekam syndrome MONDO:0018035 Orphanet:2136 Orphanet:331217 obsolete syndrome with combined immunodeficiency -MONDO:0016256 Hennekam syndrome MONDO:0035470 Orphanet:2136 Orphanet:568044 obsolete primary lymphedema with systemic or visceral involvement -MONDO:0016256 Hennekam syndrome MONDO:0035863 Orphanet:2136 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0016256 Hennekam syndrome MONDO:8000032 Orphanet:2136 Orphanet:377789 obsolete malformation syndrome -MONDO:0016264 autoimmune hepatitis MONDO:0015114 Orphanet:2137 Orphanet:101939 obsolete rare parenchymal liver disease -MONDO:0016266 squamous cell carcinoma of the corpus uteri MONDO:0016253 Orphanet:213716 Orphanet:213569 obsolete rare cancer of corpus uteri -MONDO:0016267 undifferentiated carcinoma of the corpus uteri MONDO:0016253 Orphanet:213721 Orphanet:213569 obsolete rare cancer of corpus uteri -MONDO:0016268 papillary carcinoma of the corpus uteri MONDO:0016253 Orphanet:213726 Orphanet:213569 obsolete rare cancer of corpus uteri -MONDO:0016269 high-grade neuroendocrine carcinoma of the corpus uteri MONDO:0015081 Orphanet:213731 Orphanet:100101 obsolete neuroendocrine tumor with other location -MONDO:0016269 high-grade neuroendocrine carcinoma of the corpus uteri MONDO:0016253 Orphanet:213731 Orphanet:213569 obsolete rare cancer of corpus uteri -MONDO:0016270 low-grade neuroendocrine tumor of the corpus uteri MONDO:0016253 Orphanet:213736 Orphanet:213569 obsolete rare cancer of corpus uteri -MONDO:0016272 transitional cell carcinoma of the corpus uteri MONDO:0016253 Orphanet:213746 Orphanet:213569 obsolete rare cancer of corpus uteri -MONDO:0016273 malignant germ cell tumor of corpus uteri MONDO:0016253 Orphanet:213751 Orphanet:213569 obsolete rare cancer of corpus uteri -MONDO:0016274 obsolete rare cancer of cervix uteri MONDO:0016252 Orphanet:213761 Orphanet:213564 obsolete rare uterine cancer -MONDO:0016276 high-grade neuroendocrine carcinoma of the cervix uteri MONDO:0015081 Orphanet:213777 Orphanet:100101 obsolete neuroendocrine tumor with other location -MONDO:0016276 high-grade neuroendocrine carcinoma of the cervix uteri MONDO:0016274 Orphanet:213777 Orphanet:213761 obsolete rare cancer of cervix uteri -MONDO:0016277 malignant mixed epithelial and mesenchymal tumor of cervix uteri MONDO:0016274 Orphanet:213782 Orphanet:213761 obsolete rare cancer of cervix uteri -MONDO:0016280 sarcoma of cervix uteri MONDO:0016274 Orphanet:213797 Orphanet:213761 obsolete rare cancer of cervix uteri -MONDO:0016281 46,XX ovotesticular disorder of sex development MONDO:0017961 Orphanet:2138 Orphanet:325055 obsolete 46,XX disorder of gonadal development -MONDO:0016281 46,XX ovotesticular disorder of sex development MONDO:0018402 Orphanet:2138 Orphanet:399877 obsolete female infertility due to gonadal dysgenesis -MONDO:0016281 46,XX ovotesticular disorder of sex development MONDO:0020038 Orphanet:2138 Orphanet:98074 obsolete gonadal dysgenesis of gynecological interest -MONDO:0016281 46,XX ovotesticular disorder of sex development MONDO:8000032 Orphanet:2138 Orphanet:377789 obsolete malformation syndrome -MONDO:0016287 adenoid basal carcinoma of the cervix uteri MONDO:0016274 Orphanet:213828 Orphanet:213761 obsolete rare cancer of cervix uteri -MONDO:0016289 malignant germ cell tumor of cervix uteri MONDO:0016274 Orphanet:213837 Orphanet:213761 obsolete rare cancer of cervix uteri -MONDO:0016290 Hernández-Aguirre Negrete syndrome MONDO:0035863 Orphanet:2139 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0016290 Hernández-Aguirre Negrete syndrome MONDO:8000032 Orphanet:2139 Orphanet:377789 obsolete malformation syndrome -MONDO:0016291 craniosynostosis, Herrmann-Opitz type MONDO:8000032 Orphanet:2145 Orphanet:377789 obsolete malformation syndrome -MONDO:0016292 nodular neuronal heterotopia MONDO:0015572 Orphanet:2149 Orphanet:163209 obsolete cerebral malformation due to abnormal neuronal migration -MONDO:0016292 nodular neuronal heterotopia MONDO:0035863 Orphanet:2149 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0016292 nodular neuronal heterotopia MONDO:8000030 Orphanet:2149 Orphanet:377791 obsolete morphological anomaly -MONDO:0016294 Hirschsprung disease-type D brachydactyly syndrome MONDO:0015184 Orphanet:2150 Orphanet:104009 obsolete rare disease involving intestinal motility -MONDO:0016294 Hirschsprung disease-type D brachydactyly syndrome MONDO:0035340 Orphanet:2150 Orphanet:557866 obsolete rare disorder with hirschsprung disease as a major feature -MONDO:0016294 Hirschsprung disease-type D brachydactyly syndrome MONDO:0043008 Orphanet:2150 Orphanet:330206 obsolete genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability -MONDO:0016294 Hirschsprung disease-type D brachydactyly syndrome MONDO:8000032 Orphanet:2150 Orphanet:377789 obsolete malformation syndrome -MONDO:0016295 neuronal ceroid lipofuscinosis MONDO:0015918 Orphanet:216 Orphanet:182070 obsolete rare neurodegenerative disease -MONDO:0016295 neuronal ceroid lipofuscinosis MONDO:0016397 Orphanet:216 Orphanet:225681 obsolete lysosomal disease with epilepsy -MONDO:0016295 neuronal ceroid lipofuscinosis MONDO:0019058 Orphanet:216 Orphanet:68385 obsolete neurometabolic disease -MONDO:0016295 neuronal ceroid lipofuscinosis MONDO:0020142 Orphanet:216 Orphanet:98543 obsolete metabolic disease with dementia -MONDO:0016296 holoprosencephaly MONDO:0015655 Orphanet:2162 Orphanet:166478 obsolete cerebral malformation with epilepsy -MONDO:0016296 holoprosencephaly MONDO:0017090 Orphanet:2162 Orphanet:268926 obsolete midline cerebral malformation -MONDO:0016296 holoprosencephaly MONDO:0019827 Orphanet:2162 Orphanet:95495 obsolete disease associated with non-acquired combined pituitary hormone deficiency -MONDO:0016296 holoprosencephaly MONDO:0035863 Orphanet:2162 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0016296 holoprosencephaly MONDO:8000032 Orphanet:2162 Orphanet:377789 obsolete malformation syndrome -MONDO:0016299 holoprosencephaly-caudal dysgenesis syndrome MONDO:0017120 Orphanet:2165 Orphanet:269531 obsolete other syndrome with a central nervous system malformation as major feature -MONDO:0016299 holoprosencephaly-caudal dysgenesis syndrome MONDO:8000032 Orphanet:2165 Orphanet:377789 obsolete malformation syndrome -MONDO:0016301 congenitally corrected transposition of the great arteries MONDO:8000030 Orphanet:216694 Orphanet:377791 obsolete morphological anomaly -MONDO:0016302 isolated congenitally uncorrected transposition of the great arteries MONDO:8000031 Orphanet:216718 Orphanet:557494 obsolete subtype of a disorder -MONDO:0016303 congenitally uncorrected transposition of the great arteries with cardiac malformation MONDO:8000031 Orphanet:216729 Orphanet:557494 obsolete subtype of a disorder -MONDO:0016304 classic pantothenate kinase-associated neurodegeneration MONDO:8000031 Orphanet:216866 Orphanet:557494 obsolete subtype of a disorder -MONDO:0016305 atypical pantothenate kinase-associated neurodegeneration MONDO:8000031 Orphanet:216873 Orphanet:557494 obsolete subtype of a disorder -MONDO:0016306 Niemann-Pick disease type C, severe perinatal form MONDO:8000031 Orphanet:216972 Orphanet:557494 obsolete subtype of a disorder -MONDO:0016307 Niemann-Pick disease type C, severe early infantile neurologic onset MONDO:8000031 Orphanet:216975 Orphanet:557494 obsolete subtype of a disorder -MONDO:0016308 Niemann-Pick disease type C, late infantile neurologic onset MONDO:8000031 Orphanet:216978 Orphanet:557494 obsolete subtype of a disorder -MONDO:0016309 Niemann-Pick disease type C, juvenile neurologic onset MONDO:8000031 Orphanet:216981 Orphanet:557494 obsolete subtype of a disorder -MONDO:0016310 Niemann-Pick disease type C, adult neurologic onset MONDO:8000031 Orphanet:216986 Orphanet:557494 obsolete subtype of a disorder -MONDO:0016311 Bockenheimer syndrome MONDO:0016232 Orphanet:217008 Orphanet:211252 obsolete rare venous malformation -MONDO:0016311 Bockenheimer syndrome MONDO:8000032 Orphanet:217008 Orphanet:377789 obsolete malformation syndrome -MONDO:0016312 5-fluorouracil poisoning MONDO:0017633 Orphanet:217064 Orphanet:306640 obsolete rare intoxication due to medical products -MONDO:0016312 5-fluorouracil poisoning MONDO:0032014 Orphanet:217064 Orphanet:377793 obsolete particular clinical situation in a disease or syndrome -MONDO:0016314 obsolete rare carcinoma of pancreas MONDO:0018520 Orphanet:217074 Orphanet:424033 obsolete rare epithelial tumor of pancreas -MONDO:0016315 mucopolysaccharidosis type 2, severe form MONDO:8000031 Orphanet:217085 Orphanet:557494 obsolete subtype of a disorder -MONDO:0016316 mucopolysaccharidosis type 2, attenuated form MONDO:8000031 Orphanet:217093 Orphanet:557494 obsolete subtype of a disorder -MONDO:0016320 obsolete rare hereditary thrombophilia MONDO:0016633 Orphanet:217454 Orphanet:248361 obsolete thrombotic disorder due to a constitutional coagulation factors defect -MONDO:0016320 obsolete rare hereditary thrombophilia MONDO:0018377 Orphanet:217454 Orphanet:399185 obsolete rare hereditary disease with avascular necrosis -MONDO:0016323 chronic respiratory distress with surfactant metabolism deficiency MONDO:0017032 Orphanet:217566 Orphanet:264930 obsolete primary interstitial lung disease in childhood and adulthood due to alveolar structure disorder -MONDO:0016323 chronic respiratory distress with surfactant metabolism deficiency MONDO:0028569 Orphanet:217566 Orphanet:264992 obsolete genetic interstitial lung disease -MONDO:0016325 obsolete glycogen storage disease with hypertrophic cardiomyopathy MONDO:0020484 Orphanet:217572 Orphanet:99739 obsolete rare familial disorder with hypertrophic cardiomyopathy -MONDO:0016326 obsolete lysosomal disease with hypertrophic cardiomyopathy MONDO:0020484 Orphanet:217581 Orphanet:99739 obsolete rare familial disorder with hypertrophic cardiomyopathy -MONDO:0016327 obsolete mitochondrial disease with hypertrophic cardiomyopathy MONDO:0020484 Orphanet:217587 Orphanet:99739 obsolete rare familial disorder with hypertrophic cardiomyopathy -MONDO:0016328 obsolete fatty acid oxidation and ketogenesis disorder with hypertrophic cardiomyopathy MONDO:0020484 Orphanet:217591 Orphanet:99739 obsolete rare familial disorder with hypertrophic cardiomyopathy -MONDO:0016331 infantile systemic hyalinosis MONDO:0015331 Orphanet:2176 Orphanet:139027 obsolete malformation syndrome with skin/mucosae involvement -MONDO:0016331 infantile systemic hyalinosis MONDO:8000031 Orphanet:2176 Orphanet:557494 obsolete subtype of a disorder -MONDO:0016333 familial dilated cardiomyopathy MONDO:0020029 Orphanet:217607 Orphanet:98054 obsolete rare genetic cardiac disease -MONDO:0016334 obsolete neuromuscular disease with dilated cardiomyopathy MONDO:0016333 Orphanet:217610 Orphanet:217607 familial dilated cardiomyopathy -MONDO:0016335 obsolete mitochondrial disease with dilated cardiomyopathy MONDO:0016333 Orphanet:217613 Orphanet:217607 familial dilated cardiomyopathy -MONDO:0016336 obsolete fatty acid oxidation and ketogenesis disorder with dilated cardiomyopathy MONDO:0016333 Orphanet:217616 Orphanet:217607 familial dilated cardiomyopathy -MONDO:0016337 obsolete syndrome associated with dilated cardiomyopathy MONDO:0016333 Orphanet:217619 Orphanet:217607 familial dilated cardiomyopathy -MONDO:0016340 familial restrictive cardiomyopathy MONDO:0020029 Orphanet:217635 Orphanet:98054 obsolete rare genetic cardiac disease -MONDO:0016341 obsolete lysosomal disease with restrictive cardiomyopathy MONDO:0016340 Orphanet:217638 Orphanet:217635 familial restrictive cardiomyopathy -MONDO:0016342 familial isolated arrhythmogenic right ventricular dysplasia MONDO:0029810 Orphanet:217656 Orphanet:300755 obsolete laminopathy with striated muscle involvement -MONDO:0016343 obsolete unclassified cardiomyopathy MONDO:0004994 Orphanet:217678 Orphanet:167848 cardiomyopathy -MONDO:0016344 hydranencephaly MONDO:8000032 Orphanet:2177 Orphanet:377789 obsolete malformation syndrome -MONDO:0016346 hydrocephalus-obesity-hypogonadism syndrome MONDO:0015906 Orphanet:2183 Orphanet:181441 obsolete rare disorder with hypergonadotropic hypogonadism -MONDO:0016346 hydrocephalus-obesity-hypogonadism syndrome MONDO:0016565 Orphanet:2183 Orphanet:240371 obsolete syndromic genetic obesity -MONDO:0016346 hydrocephalus-obesity-hypogonadism syndrome MONDO:8000032 Orphanet:2183 Orphanet:377789 obsolete malformation syndrome -MONDO:0016347 obsolete rare cardiac rhythm disease MONDO:0019996 Orphanet:218436 Orphanet:97929 obsolete rare cardiac disease -MONDO:0016348 obsolete non-genetic cardiac rhythm disease MONDO:0016347 Orphanet:218439 Orphanet:218436 obsolete rare cardiac rhythm disease -MONDO:0016349 congenital hydrocephalus MONDO:0015219 Orphanet:2185 Orphanet:108989 obsolete non-syndromic central nervous system malformation -MONDO:0016349 congenital hydrocephalus MONDO:8000032 Orphanet:2185 Orphanet:377789 obsolete malformation syndrome -MONDO:0016350 hydrocephalus-blue sclerae-nephropathy syndrome MONDO:0019721 Orphanet:2186 Orphanet:93547 obsolete syndromic renal or urinary tract malformation -MONDO:0016350 hydrocephalus-blue sclerae-nephropathy syndrome MONDO:8000032 Orphanet:2186 Orphanet:377789 obsolete malformation syndrome -MONDO:0016351 anti-HLA hyperimmunization MONDO:0020008 Orphanet:2194 Orphanet:98004 obsolete rare immune disease +MONDO:0016254 obsolete rare variants of adenocarcinoma of the corpus uteri MONDO:0000001 Orphanet:213574 Orphanet:377788 disease MONDO:0016352 obsolete idiopathic inherited hypercalciuria MONDO:0000001 Orphanet:2197 Orphanet:377788 disease -MONDO:0016352 obsolete idiopathic inherited hypercalciuria MONDO:0015962 Orphanet:2197 Orphanet:183592 inherited renal tubular disease -MONDO:0016352 obsolete idiopathic inherited hypercalciuria MONDO:0019744 Orphanet:2197 Orphanet:93603 obsolete rare renal tubular disease -MONDO:0016353 palmoplantar keratoderma-spastic paralysis syndrome MONDO:0017679 Orphanet:2201 Orphanet:308031 obsolete obsolete autosomal dominant disease associated with punctate palmoplantar keratoderma as a major feature -MONDO:0016354 xeroderma pigmentosum-Cockayne syndrome complex MONDO:0015331 Orphanet:220295 Orphanet:139027 obsolete malformation syndrome with skin/mucosae involvement -MONDO:0016354 xeroderma pigmentosum-Cockayne syndrome complex MONDO:0015945 Orphanet:220295 Orphanet:183422 obsolete polymalformative genetic syndrome with increased risk of developing cancer -MONDO:0016354 xeroderma pigmentosum-Cockayne syndrome complex MONDO:0019304 Orphanet:220295 Orphanet:79390 obsolete rare photodermatosis -MONDO:0016354 xeroderma pigmentosum-Cockayne syndrome complex MONDO:0019589 Orphanet:220295 Orphanet:90642 obsolete syndromic genetic hearing loss -MONDO:0016354 xeroderma pigmentosum-Cockayne syndrome complex MONDO:0020045 Orphanet:220295 Orphanet:98097 obsolete autosomal recessive cerebellar ataxia due to a DNA repair defect -MONDO:0016354 xeroderma pigmentosum-Cockayne syndrome complex MONDO:0020162 Orphanet:220295 Orphanet:98571 obsolete secondary ectropion -MONDO:0016354 xeroderma pigmentosum-Cockayne syndrome complex MONDO:0020240 Orphanet:220295 Orphanet:98661 obsolete syndromic retinitis pigmentosa -MONDO:0016354 xeroderma pigmentosum-Cockayne syndrome complex MONDO:0031689 Orphanet:220295 Orphanet:363245 obsolete genetic progeroid syndrome -MONDO:0016354 xeroderma pigmentosum-Cockayne syndrome complex MONDO:0034926 Orphanet:220295 Orphanet:519270 obsolete rare disorder with entropion -MONDO:0016354 xeroderma pigmentosum-Cockayne syndrome complex MONDO:0035862 Orphanet:220295 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome -MONDO:0016355 obsolete semilobar holoprosencephaly MONDO:0016296 Orphanet:220386 Orphanet:2162 holoprosencephaly -MONDO:0016355 obsolete semilobar holoprosencephaly MONDO:8000031 Orphanet:220386 Orphanet:557494 obsolete subtype of a disorder -MONDO:0016356 diffuse cutaneous systemic sclerosis MONDO:8000031 Orphanet:220393 Orphanet:557494 obsolete subtype of a disorder -MONDO:0016357 dysplastic cortical hyperostosis MONDO:0800084 Orphanet:646139 Orphanet:93444 obsolete primary bone dysplasia with increased bone density -MONDO:0016357 dysplastic cortical hyperostosis MONDO:8000032 Orphanet:646139 Orphanet:377789 obsolete malformation syndrome -MONDO:0016358 limited cutaneous systemic sclerosis MONDO:8000031 Orphanet:220402 Orphanet:557494 obsolete subtype of a disorder -MONDO:0016359 limited systemic sclerosis MONDO:8000031 Orphanet:220407 Orphanet:557494 obsolete subtype of a disorder -MONDO:0016361 obsolete isolated hereditary giant platelet disorder MONDO:0018796 Orphanet:220452 Orphanet:477797 obsolete isolated constitutional thrombocytopenia -MONDO:0016362 attenuated familial adenomatous polyposis MONDO:0017128 Orphanet:220460 Orphanet:271835 obsolete inherited digestive tract tumor -MONDO:0016362 attenuated familial adenomatous polyposis MONDO:0018188 Orphanet:220460 Orphanet:363314 obsolete hereditary intestinal polyposis -MONDO:0016363 obsolete rare hereditary hemochromatosis MONDO:0015115 Orphanet:220489 Orphanet:101940 obsolete rare genetic metabolic liver disease -MONDO:0016363 obsolete rare hereditary hemochromatosis MONDO:0017763 Orphanet:220489 Orphanet:309842 disorder of iron metabolism and transport -MONDO:0016364 Joubert syndrome with ocular defect MONDO:0017118 Orphanet:220493 Orphanet:269523 obsolete syndrome with a cerebellar malformation as major feature -MONDO:0016364 Joubert syndrome with ocular defect MONDO:0034953 Orphanet:220493 Orphanet:519325 obsolete syndromic inherited retinal disorder -MONDO:0016364 Joubert syndrome with ocular defect MONDO:0035863 Orphanet:220493 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0016364 Joubert syndrome with ocular defect MONDO:8000032 Orphanet:220493 Orphanet:377789 obsolete malformation syndrome -MONDO:0016365 familial primary hyperparathyroidism MONDO:0015076 Orphanet:2207 Orphanet:100090 obsolete rare parathyroid tumor -MONDO:0016365 familial primary hyperparathyroidism MONDO:0015897 Orphanet:2207 Orphanet:181408 obsolete rare hyperparathyroidism -MONDO:0016366 maternal phenylketonuria MONDO:0015323 Orphanet:2209 Orphanet:138059 obsolete teratogenic Pierre Robin syndrome -MONDO:0016366 maternal phenylketonuria MONDO:0016678 Orphanet:2209 Orphanet:251535 obsolete maternal disease-related embryofetopathy -MONDO:0016366 maternal phenylketonuria MONDO:0035863 Orphanet:2209 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0016366 maternal phenylketonuria MONDO:8000032 Orphanet:2209 Orphanet:377789 obsolete malformation syndrome -MONDO:0016367 dermatomyositis MONDO:0017368 Orphanet:221 Orphanet:290836 obsolete systemic disease with skin involvement -MONDO:0016368 Rothmund-Thomson syndrome type 1 MONDO:8000031 Orphanet:221008 Orphanet:557494 obsolete subtype of a disorder -MONDO:0016369 Rothmund-Thomson syndrome type 2 MONDO:0015945 Orphanet:221016 Orphanet:183422 obsolete polymalformative genetic syndrome with increased risk of developing cancer -MONDO:0016369 Rothmund-Thomson syndrome type 2 MONDO:8000031 Orphanet:221016 Orphanet:557494 obsolete subtype of a disorder -MONDO:0016370 Marchiafava-Bignami disease MONDO:0015918 Orphanet:221074 Orphanet:182070 obsolete rare neurodegenerative disease -MONDO:0016375 obsolete acquired peripheral movement disorder MONDO:0015923 Orphanet:221114 Orphanet:182086 acquired peripheral neuropathy -MONDO:0016376 confetti-like macular atrophy MONDO:0016435 Orphanet:221142 Orphanet:228221 obsolete acquired dermis elastic tissue disorder with decreased elastic tissue -MONDO:0016378 maternal hyperthermia induced birth defects MONDO:0015323 Orphanet:2216 Orphanet:138059 obsolete teratogenic Pierre Robin syndrome -MONDO:0016378 maternal hyperthermia induced birth defects MONDO:0016678 Orphanet:2216 Orphanet:251535 obsolete maternal disease-related embryofetopathy -MONDO:0016378 maternal hyperthermia induced birth defects MONDO:8000032 Orphanet:2216 Orphanet:377789 obsolete malformation syndrome -MONDO:0016379 erosive pustular dermatosis of the scalp MONDO:0019546 Orphanet:222 Orphanet:90077 obsolete other acquired skin disease -MONDO:0016382 hereditary poikiloderma MONDO:0015946 Orphanet:222628 Orphanet:183426 obsolete rare genetic epidermal disorder -MONDO:0016383 nephrogenic diabetes insipidus MONDO:0019744 Orphanet:223 Orphanet:93603 obsolete rare renal tubular disease -MONDO:0016384 hypogonadotropic hypogonadism-frontoparietal alopecia syndrome MONDO:0015890 Orphanet:2230 Orphanet:181387 obsolete rare disorder with congenital hypogonadotropic hypogonadism -MONDO:0016385 hypogonadism-mitral valve prolapse-intellectual disability syndrome MONDO:0015906 Orphanet:2233 Orphanet:181441 obsolete rare disorder with hypergonadotropic hypogonadism -MONDO:0016385 hypogonadism-mitral valve prolapse-intellectual disability syndrome MONDO:0035863 Orphanet:2233 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0016386 hypogonadotropic hypogonadism-retinitis pigmentosa syndrome MONDO:0015890 Orphanet:2235 Orphanet:181387 obsolete rare disorder with congenital hypogonadotropic hypogonadism -MONDO:0016386 hypogonadotropic hypogonadism-retinitis pigmentosa syndrome MONDO:0020240 Orphanet:2235 Orphanet:98661 obsolete syndromic retinitis pigmentosa -MONDO:0016390 familial hypoparathyroidism MONDO:0015896 Orphanet:2238 Orphanet:181405 obsolete rare hypoparathyroidism -MONDO:0016390 familial hypoparathyroidism MONDO:0020225 Orphanet:2238 Orphanet:98641 obsolete syndromic cataract -MONDO:0016391 neonatal diabetes mellitus MONDO:0015122 Orphanet:224 Orphanet:101952 obsolete rare diabetes mellitus -MONDO:0016392 cerebellar hypoplasia-tapetoretinal degeneration syndrome MONDO:0017118 Orphanet:2246 Orphanet:269523 obsolete syndrome with a cerebellar malformation as major feature -MONDO:0016392 cerebellar hypoplasia-tapetoretinal degeneration syndrome MONDO:0034953 Orphanet:2246 Orphanet:519325 obsolete syndromic inherited retinal disorder -MONDO:0016392 cerebellar hypoplasia-tapetoretinal degeneration syndrome MONDO:8000032 Orphanet:2246 Orphanet:377789 obsolete malformation syndrome -MONDO:0016393 hyposmia-nasal and ocular hypoplasia-hypogonadotropic hypogonadism syndrome MONDO:0015890 Orphanet:2250 Orphanet:181387 obsolete rare disorder with congenital hypogonadotropic hypogonadism -MONDO:0016393 hyposmia-nasal and ocular hypoplasia-hypogonadotropic hypogonadism syndrome MONDO:0020225 Orphanet:2250 Orphanet:98641 obsolete syndromic cataract -MONDO:0016395 foveal hypoplasia-presenile cataract syndrome MONDO:0020225 Orphanet:2253 Orphanet:98641 obsolete syndromic cataract -MONDO:0016396 pontocerebellar hypoplasia type 1 MONDO:0016131 Orphanet:2254 Orphanet:207012 obsolete spinal muscular atrophy associated with central nervous system anomaly -MONDO:0016396 pontocerebellar hypoplasia type 1 MONDO:8000032 Orphanet:2254 Orphanet:377789 obsolete malformation syndrome -MONDO:0016397 obsolete lysosomal disease with epilepsy MONDO:0015656 Orphanet:225681 Orphanet:166481 obsolete metabolic disease with epilepsy -MONDO:0016398 obsolete peroxisomal disease with epilepsy MONDO:0015656 Orphanet:225686 Orphanet:166481 obsolete metabolic disease with epilepsy -MONDO:0016399 obsolete amino acid or protein metabolism disease with epilepsy MONDO:0015656 Orphanet:225689 Orphanet:166481 obsolete metabolic disease with epilepsy -MONDO:0016400 obsolete metal transport or utilization disorder with epilepsy MONDO:0015656 Orphanet:225692 Orphanet:166481 obsolete metabolic disease with epilepsy -MONDO:0016401 obsolete energy metabolism disorder with epilepsy MONDO:0015656 Orphanet:225696 Orphanet:166481 obsolete metabolic disease with epilepsy -MONDO:0016402 obsolete mitochondrial disease with epilepsy MONDO:0016401 Orphanet:225700 Orphanet:225696 obsolete energy metabolism disorder with epilepsy -MONDO:0016403 obsolete mitochondrial disease with peripheral neuropathy MONDO:0016133 Orphanet:225703 Orphanet:207018 obsolete rare hereditary metabolic disease with peripheral neuropathy -MONDO:0016404 obsolete metabolic neurotransmission anomaly with epilepsy MONDO:0015656 Orphanet:225707 Orphanet:166481 obsolete metabolic disease with epilepsy -MONDO:0016405 obsolete sterol metabolism disorder with epilepsy MONDO:0015656 Orphanet:225710 Orphanet:166481 obsolete metabolic disease with epilepsy -MONDO:0016406 obsolete other metabolic disease with epilepsy MONDO:0015656 Orphanet:225713 Orphanet:166481 obsolete metabolic disease with epilepsy -MONDO:0016407 oligomeganephronia MONDO:0019720 Orphanet:2260 Orphanet:93546 obsolete non-syndromic renal or urinary tract malformation -MONDO:0016407 oligomeganephronia MONDO:8000030 Orphanet:2260 Orphanet:377791 obsolete morphological anomaly -MONDO:0016409 obsolete primary congenital hypothyroidism MONDO:0016408 Orphanet:226295 Orphanet:226292 permanent congenital hypothyroidism -MONDO:0016414 hypotrichosis-intellectual disability, Lopes type MONDO:0035863 Orphanet:2266 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0016416 diphallia MONDO:0015933 Orphanet:227 Orphanet:182121 obsolete non-syndromic urogenital tract malformation of male -MONDO:0016416 diphallia MONDO:8000030 Orphanet:227 Orphanet:377791 obsolete morphological anomaly -MONDO:0016417 congenital ichthyosis-microcephalus-tetraplegia syndrome MONDO:0017272 Orphanet:2271 Orphanet:281238 obsolete autosomal ichthyosis syndrome with prominent neurologics signs -MONDO:0016418 multiple system atrophy, cerebellar type MONDO:0016592 Orphanet:227510 Orphanet:247239 obsolete non-hereditary degenerative ataxia -MONDO:0016418 multiple system atrophy, cerebellar type MONDO:8000031 Orphanet:227510 Orphanet:557494 obsolete subtype of a disorder -MONDO:0016419 hereditary breast carcinoma MONDO:0015870 Orphanet:227535 Orphanet:180257 obsolete rare malignant breast tumor -MONDO:0016419 hereditary breast carcinoma MONDO:0015981 Orphanet:227535 Orphanet:183734 obsolete inherited gynecological tumor -MONDO:0016421 toxic oil syndrome MONDO:0035328 Orphanet:227972 Orphanet:556508 obsolete rare disorder due to poisoning -MONDO:0016422 autoimmune polyendocrinopathy type 3 MONDO:0015777 Orphanet:227982 Orphanet:177101 obsolete adult hypothyroidism -MONDO:0016422 autoimmune polyendocrinopathy type 3 MONDO:0015886 Orphanet:227982 Orphanet:181371 obsolete rare diabetes mellitus type 1 -MONDO:0016424 progressive sensorineural hearing loss-hypertrophic cardiomyopathy syndrome MONDO:0015110 Orphanet:228012 Orphanet:101934 obsolete genetic cardiac rhythm disease -MONDO:0016424 progressive sensorineural hearing loss-hypertrophic cardiomyopathy syndrome MONDO:0019589 Orphanet:228012 Orphanet:90642 obsolete syndromic genetic hearing loss -MONDO:0016424 progressive sensorineural hearing loss-hypertrophic cardiomyopathy syndrome MONDO:0026989 Orphanet:228012 Orphanet:217595 obsolete syndrome associated with hypertrophic cardiomyopathy -MONDO:0016425 Hughes-Stovin syndrome MONDO:0015488 Orphanet:228116 Orphanet:156140 obsolete predominantly large-vessel vasculitis -MONDO:0016426 fusariosis MONDO:0015578 Orphanet:228119 Orphanet:163591 obsolete rare mycosis -MONDO:0016428 obsolete multiple sclerosis variant MONDO:0015916 Orphanet:228145 Orphanet:182064 obsolete rare neuroinflammatory or neuroimmunological disease -MONDO:0016429 Marburg acute multiple sclerosis MONDO:0016428 Orphanet:228157 Orphanet:228145 obsolete multiple sclerosis variant -MONDO:0016430 Balo concentric sclerosis MONDO:0016428 Orphanet:228165 Orphanet:228145 obsolete multiple sclerosis variant -MONDO:0016432 heart-hand syndrome MONDO:0015226 Orphanet:228184 Orphanet:109009 obsolete syndrome with limb malformations as a major feature -MONDO:0016432 heart-hand syndrome MONDO:0018235 Orphanet:228184 Orphanet:364568 obsolete dysostosis with limb anomaly as a major feature -MONDO:0016432 heart-hand syndrome MONDO:0018455 Orphanet:228184 Orphanet:404571 obsolete dysostosis of genetic origin with limb anomaly as a major feature -MONDO:0016433 dysmorphism-short stature-deafness-disorder of sex development syndrome MONDO:0017978 Orphanet:2282 Orphanet:325638 obsolete syndrome with disorder of sex development of gynecological interest -MONDO:0016433 dysmorphism-short stature-deafness-disorder of sex development syndrome MONDO:0020042 Orphanet:2282 Orphanet:98087 obsolete syndrome with 46,XY disorder of sex development -MONDO:0016433 dysmorphism-short stature-deafness-disorder of sex development syndrome MONDO:0035863 Orphanet:2282 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0016433 dysmorphism-short stature-deafness-disorder of sex development syndrome MONDO:8000032 Orphanet:2282 Orphanet:377789 obsolete malformation syndrome -MONDO:0016434 obsolete acquired dermis elastic tissue disorder MONDO:0019292 Orphanet:228218 Orphanet:79378 obsolete dermis elastic tissue disorder -MONDO:0016435 obsolete acquired dermis elastic tissue disorder with decreased elastic tissue MONDO:0016434 Orphanet:228221 Orphanet:228218 obsolete acquired dermis elastic tissue disorder -MONDO:0016436 obsolete acquired dermis elastic tissue disorder with increased elastic tissue MONDO:0016434 Orphanet:228224 Orphanet:228218 obsolete acquired dermis elastic tissue disorder -MONDO:0016437 late-onset focal dermal elastosis MONDO:0016436 Orphanet:228227 Orphanet:228224 obsolete acquired dermis elastic tissue disorder with increased elastic tissue -MONDO:0016438 linear focal dermal elastosis MONDO:0016436 Orphanet:228236 Orphanet:228224 obsolete acquired dermis elastic tissue disorder with increased elastic tissue -MONDO:0016439 elastoderma MONDO:0016436 Orphanet:228240 Orphanet:228224 obsolete acquired dermis elastic tissue disorder with increased elastic tissue -MONDO:0016440 elastofibroma dorsi MONDO:0016436 Orphanet:228243 Orphanet:228224 obsolete acquired dermis elastic tissue disorder with increased elastic tissue -MONDO:0016441 acquired pseudoxanthoma elasticum MONDO:0016436 Orphanet:228247 Orphanet:228224 obsolete acquired dermis elastic tissue disorder with increased elastic tissue -MONDO:0016442 elastoma MONDO:0016436 Orphanet:228254 Orphanet:228224 obsolete acquired dermis elastic tissue disorder with increased elastic tissue -MONDO:0016443 papular elastorrhexis MONDO:0016435 Orphanet:228264 Orphanet:228221 obsolete acquired dermis elastic tissue disorder with decreased elastic tissue -MONDO:0016444 primary anetoderma MONDO:0016435 Orphanet:228272 Orphanet:228221 obsolete acquired dermis elastic tissue disorder with decreased elastic tissue -MONDO:0016446 acquired cutis laxa MONDO:0016435 Orphanet:228285 Orphanet:228221 obsolete acquired dermis elastic tissue disorder with decreased elastic tissue -MONDO:0016447 white fibrous papulosis of the neck MONDO:0016435 Orphanet:228290 Orphanet:228221 obsolete acquired dermis elastic tissue disorder with decreased elastic tissue -MONDO:0016448 pseudoxanthoma elasticum-like papillary dermal elastolysis MONDO:0016435 Orphanet:228293 Orphanet:228221 obsolete acquired dermis elastic tissue disorder with decreased elastic tissue -MONDO:0016449 mid-dermal elastolysis MONDO:0016435 Orphanet:228299 Orphanet:228221 obsolete acquired dermis elastic tissue disorder with decreased elastic tissue -MONDO:0016453 foodborne botulism MONDO:8000031 Orphanet:228371 Orphanet:557494 obsolete subtype of a disorder -MONDO:0016454 Charcot-Marie-Tooth disease type 2B5 MONDO:0019601 Orphanet:228374 Orphanet:91024 obsolete autosomal recessive axonal hereditary motor and sensory neuropathy -MONDO:0016455 virus-associated trichodysplasia spinulosa MONDO:0015576 Orphanet:228379 Orphanet:163585 obsolete rare viral disease -MONDO:0016455 virus-associated trichodysplasia spinulosa MONDO:0019546 Orphanet:228379 Orphanet:90077 obsolete other acquired skin disease -MONDO:0016456 5q14.3 microdeletion syndrome MONDO:0015652 Orphanet:228384 Orphanet:166469 obsolete chromosomal anomaly with epilepsy as a major feature -MONDO:0016456 5q14.3 microdeletion syndrome MONDO:0035863 Orphanet:228384 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0016456 5q14.3 microdeletion syndrome MONDO:8000032 Orphanet:228384 Orphanet:377789 obsolete malformation syndrome -MONDO:0016457 ptosis-upper ocular movement limitation-absence of lacrimal punctum syndrome MONDO:0020169 Orphanet:228396 Orphanet:98578 obsolete rare disorder with ptosis -MONDO:0016457 ptosis-upper ocular movement limitation-absence of lacrimal punctum syndrome MONDO:8000032 Orphanet:228396 Orphanet:377789 obsolete malformation syndrome -MONDO:0016458 8q12 microduplication syndrome MONDO:0020253 Orphanet:228399 Orphanet:98683 obsolete syndrome with a symptomatic strabismus -MONDO:0016458 8q12 microduplication syndrome MONDO:8000032 Orphanet:228399 Orphanet:377789 obsolete malformation syndrome -MONDO:0016459 2q23.1 microdeletion syndrome MONDO:0015652 Orphanet:228402 Orphanet:166469 obsolete chromosomal anomaly with epilepsy as a major feature -MONDO:0016459 2q23.1 microdeletion syndrome MONDO:0035863 Orphanet:228402 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0016459 2q23.1 microdeletion syndrome MONDO:8000032 Orphanet:228402 Orphanet:377789 obsolete malformation syndrome -MONDO:0016460 polyvalvular heart disease syndrome MONDO:0015332 Orphanet:228410 Orphanet:139030 obsolete rare developmental defect with connective tissue involvement -MONDO:0016460 polyvalvular heart disease syndrome MONDO:0015506 Orphanet:228410 Orphanet:156532 obsolete rare syndrome with cardiac malformations -MONDO:0016460 polyvalvular heart disease syndrome MONDO:0035863 Orphanet:228410 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0016460 polyvalvular heart disease syndrome MONDO:8000032 Orphanet:228410 Orphanet:377789 obsolete malformation syndrome -MONDO:0016461 5q35 microduplication syndrome MONDO:8000032 Orphanet:228415 Orphanet:377789 obsolete malformation syndrome -MONDO:0016464 insulin-resistance syndrome type B MONDO:0015885 Orphanet:2298 Orphanet:181368 obsolete rare insulin-resistance syndrome -MONDO:0016467 isotretinoin syndrome MONDO:0015323 Orphanet:2305 Orphanet:138059 obsolete teratogenic Pierre Robin syndrome -MONDO:0016467 isotretinoin syndrome MONDO:8000032 Orphanet:2305 Orphanet:377789 obsolete malformation syndrome -MONDO:0016468 toxin-mediated infectious botulism MONDO:8000031 Orphanet:230800 Orphanet:557494 obsolete subtype of a disorder -MONDO:0016470 Ehlers-Danlos/osteogenesis imperfecta syndrome MONDO:0015331 Orphanet:230857 Orphanet:139027 obsolete malformation syndrome with skin/mucosae involvement -MONDO:0016470 Ehlers-Danlos/osteogenesis imperfecta syndrome MONDO:0015332 Orphanet:230857 Orphanet:139030 obsolete rare developmental defect with connective tissue involvement -MONDO:0016470 Ehlers-Danlos/osteogenesis imperfecta syndrome MONDO:0019704 Orphanet:230857 Orphanet:93446 obsolete primary bone dysplasia with decreased bone density -MONDO:0016471 pachyonychia congenita MONDO:0015331 Orphanet:2309 Orphanet:139027 obsolete malformation syndrome with skin/mucosae involvement -MONDO:0016471 pachyonychia congenita MONDO:0019285 Orphanet:2309 Orphanet:79370 obsolete syndromic nail anomaly -MONDO:0016471 pachyonychia congenita MONDO:0020095 Orphanet:2309 Orphanet:98353 obsolete autosomal dominant disease associated with focal palmoplantar keratoderma as a major feature -MONDO:0016474 drug-induced lupus erythematosus MONDO:0017368 Orphanet:231111 Orphanet:290836 obsolete systemic disease with skin involvement -MONDO:0016475 Beckwith-Wiedemann syndrome due to imprinting defect of 11p15 MONDO:8000031 Orphanet:231117 Orphanet:557494 obsolete subtype of a disorder -MONDO:0016476 Beckwith-Wiedemann syndrome due to CDKN1C mutation MONDO:8000031 Orphanet:231120 Orphanet:557494 obsolete subtype of a disorder -MONDO:0016477 Beckwith-Wiedemann syndrome due to 11p15 microdeletion MONDO:8000031 Orphanet:231127 Orphanet:557494 obsolete subtype of a disorder -MONDO:0016478 Beckwith-Wiedemann syndrome due to 11p15 translocation/inversion MONDO:0016998 Orphanet:231130 Orphanet:263708 obsolete complex chromosomal rearrangement -MONDO:0016478 Beckwith-Wiedemann syndrome due to 11p15 translocation/inversion MONDO:8000031 Orphanet:231130 Orphanet:557494 obsolete subtype of a disorder -MONDO:0016479 silver-Russell syndrome due to 7p11.2p13 microduplication MONDO:8000031 Orphanet:231137 Orphanet:557494 obsolete subtype of a disorder -MONDO:0016480 silver-Russell syndrome due to an imprinting defect of 11p15 MONDO:8000031 Orphanet:231140 Orphanet:557494 obsolete subtype of a disorder -MONDO:0016481 silver-Russell syndrome due to 11p15 microduplication MONDO:8000031 Orphanet:231144 Orphanet:557494 obsolete subtype of a disorder -MONDO:0016482 silver-Russell syndrome due to maternal uniparental disomy of chromosome 11 MONDO:0020056 Orphanet:231147 Orphanet:98153 obsolete uniparental disomy of maternal origin -MONDO:0016482 silver-Russell syndrome due to maternal uniparental disomy of chromosome 11 MONDO:8000031 Orphanet:231147 Orphanet:557494 obsolete subtype of a disorder -MONDO:0016483 intracranial berry aneurysm MONDO:0015145 Orphanet:231160 Orphanet:102006 obsolete neurovascular malformation -MONDO:0016483 intracranial berry aneurysm MONDO:0031949 Orphanet:231160 Orphanet:371436 obsolete genetic neurovascular malformation -MONDO:0016484 Usher syndrome type 2 MONDO:8000031 Orphanet:231178 Orphanet:557494 obsolete subtype of a disorder -MONDO:0016485 Usher syndrome type 3 MONDO:8000031 Orphanet:231183 Orphanet:557494 obsolete subtype of a disorder -MONDO:0016486 beta-thalassemia major MONDO:8000031 Orphanet:231214 Orphanet:557494 obsolete subtype of a disorder -MONDO:0016487 beta-thalassemia intermedia MONDO:8000031 Orphanet:231222 Orphanet:557494 obsolete subtype of a disorder -MONDO:0016488 obsolete beta-thalassemia associated with another hemoglobin anomaly MONDO:0017145 Orphanet:231230 Orphanet:275749 beta-thalassemia and related diseases -MONDO:0016489 delta-beta-thalassemia MONDO:0016488 Orphanet:231237 Orphanet:231230 obsolete beta-thalassemia associated with another hemoglobin anomaly -MONDO:0016490 hemoglobin C-beta-thalassemia syndrome MONDO:0016488 Orphanet:231242 Orphanet:231230 obsolete beta-thalassemia associated with another hemoglobin anomaly -MONDO:0016491 hemoglobin E-beta-thalassemia syndrome MONDO:0016488 Orphanet:231249 Orphanet:231230 obsolete beta-thalassemia associated with another hemoglobin anomaly -MONDO:0016492 obsolete beta-thalassemia with other manifestations MONDO:0017145 Orphanet:231386 Orphanet:275749 beta-thalassemia and related diseases -MONDO:0016493 obsolete variant of Guillain-Barre syndrome MONDO:0016218 Orphanet:231413 Orphanet:2103 Guillain-Barre syndrome -MONDO:0016494 obsolete regional variant of Guillain-Barre syndrome MONDO:0016493 Orphanet:231416 Orphanet:231413 obsolete variant of Guillain-Barre syndrome -MONDO:0016495 obsolete functional variant of Guillain-Barre syndrome MONDO:0016493 Orphanet:231419 Orphanet:231413 obsolete variant of Guillain-Barre syndrome -MONDO:0016496 pharyngeal-cervical-brachial variant of Guillain-Barre syndrome MONDO:0016494 Orphanet:231426 Orphanet:231416 obsolete regional variant of Guillain-Barre syndrome -MONDO:0016497 paraparetic variant of Guillain-Barre syndrome MONDO:0016495 Orphanet:231445 Orphanet:231419 obsolete functional variant of Guillain-Barre syndrome -MONDO:0016498 acute pure sensory neuropathy MONDO:0016495 Orphanet:231450 Orphanet:231419 obsolete functional variant of Guillain-Barre syndrome -MONDO:0016499 acute pandysautonomia MONDO:0016495 Orphanet:231457 Orphanet:231419 obsolete functional variant of Guillain-Barre syndrome -MONDO:0016500 acute sensory ataxic neuropathy MONDO:0016495 Orphanet:231466 Orphanet:231419 obsolete functional variant of Guillain-Barre syndrome -MONDO:0016501 Hermansky-Pudlak syndrome with pulmonary fibrosis MONDO:0017024 Orphanet:231500 Orphanet:264719 obsolete secondary interstitial lung disease specific to childhood associated with a metabolic disease -MONDO:0016501 Hermansky-Pudlak syndrome with pulmonary fibrosis MONDO:8000031 Orphanet:231500 Orphanet:557494 obsolete subtype of a disorder -MONDO:0016502 Hermansky-Pudlak syndrome without pulmonary fibrosis MONDO:8000031 Orphanet:231512 Orphanet:557494 obsolete subtype of a disorder -MONDO:0016503 congenital erosive and vesicular dermatosis MONDO:0019274 Orphanet:231573 Orphanet:79359 obsolete other epidermal disorder -MONDO:0016504 primary unilateral adrenal hyperplasia MONDO:0016507 Orphanet:231580 Orphanet:231637 obsolete rare surgically correctable form of primary aldosteronism -MONDO:0016505 aldosterone-producing adrenal cortex adenoma MONDO:0016507 Orphanet:231625 Orphanet:231637 obsolete rare surgically correctable form of primary aldosteronism -MONDO:0016506 ectopic aldosterone-producing tumor MONDO:0016508 Orphanet:231632 Orphanet:231641 obsolete rare non surgically correctable form of primary aldosteronism -MONDO:0016507 obsolete rare surgically correctable form of primary aldosteronism MONDO:0015899 Orphanet:231637 Orphanet:181415 obsolete rare primary hyperaldosteronism -MONDO:0016508 obsolete rare non surgically correctable form of primary aldosteronism MONDO:0015899 Orphanet:231641 Orphanet:181415 obsolete rare primary hyperaldosteronism -MONDO:0016509 microcornea-posterior megalolenticonus-persistent fetal vasculature-coloboma syndrome MONDO:0034937 Orphanet:231736 Orphanet:519292 obsolete syndromic ectopia lentis -MONDO:0016509 microcornea-posterior megalolenticonus-persistent fetal vasculature-coloboma syndrome MONDO:8000032 Orphanet:231736 Orphanet:377789 obsolete malformation syndrome -MONDO:0016510 epibulbar lipodermoid-preauricular appendage-polythelia syndrome MONDO:0015334 Orphanet:231742 Orphanet:139036 obsolete branchial arch or oral-acral syndrome -MONDO:0016510 epibulbar lipodermoid-preauricular appendage-polythelia syndrome MONDO:0026189 Orphanet:231742 Orphanet:183576 obsolete genetic branchial arch or oral-acral syndrome -MONDO:0016510 epibulbar lipodermoid-preauricular appendage-polythelia syndrome MONDO:8000032 Orphanet:231742 Orphanet:377789 obsolete malformation syndrome -MONDO:0016511 infectious embryofetopathy MONDO:0018880 Orphanet:232035 Orphanet:52662 obsolete rare teratologic disease -MONDO:0016511 infectious embryofetopathy MONDO:0019062 Orphanet:232035 Orphanet:68416 obsolete rare infectious disease -MONDO:0016512 Kabuki syndrome MONDO:0015216 Orphanet:2322 Orphanet:108979 obsolete syndromic diaphragmatic or abdominal wall malformation -MONDO:0016512 Kabuki syndrome MONDO:0015246 Orphanet:2322 Orphanet:117573 obsolete syndromic anorectal malformation -MONDO:0016512 Kabuki syndrome MONDO:0015329 Orphanet:2322 Orphanet:139021 obsolete malformation syndrome with short stature -MONDO:0016512 Kabuki syndrome MONDO:0015880 Orphanet:2322 Orphanet:180779 obsolete syndromic diaphragmatic or thoracic malformation -MONDO:0016512 Kabuki syndrome MONDO:0026187 Orphanet:2322 Orphanet:183570 obsolete genetic malformation syndrome with short stature -MONDO:0016512 Kabuki syndrome MONDO:0035863 Orphanet:2322 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0016512 Kabuki syndrome MONDO:8000032 Orphanet:2322 Orphanet:377789 obsolete malformation syndrome -MONDO:0016513 obsolete alpha-thalassemia-related diseases MONDO:0017144 Orphanet:232288 Orphanet:275745 obsolete alpha-thalassemia and related diseases -MONDO:0016514 epidermolysis bullosa simplex with anodontia/hypodontia MONDO:0020014 Orphanet:2325 Orphanet:98027 obsolete rare disease with odontological manifestation -MONDO:0016514 epidermolysis bullosa simplex with anodontia/hypodontia MONDO:0034937 Orphanet:2325 Orphanet:519292 obsolete syndromic ectopia lentis -MONDO:0016514 epidermolysis bullosa simplex with anodontia/hypodontia MONDO:0035685 Orphanet:2325 Orphanet:595351 obsolete epidermolysis bullosa simplex with extracutaneous involvement -MONDO:0016514 epidermolysis bullosa simplex with anodontia/hypodontia MONDO:8000032 Orphanet:2325 Orphanet:377789 obsolete malformation syndrome -MONDO:0016515 Kallmann syndrome-heart disease syndrome MONDO:0015890 Orphanet:2326 Orphanet:181387 obsolete rare disorder with congenital hypogonadotropic hypogonadism -MONDO:0016515 Kallmann syndrome-heart disease syndrome MONDO:0035863 Orphanet:2326 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0016515 Kallmann syndrome-heart disease syndrome MONDO:8000032 Orphanet:2326 Orphanet:377789 obsolete malformation syndrome -MONDO:0016516 Kenny-Caffey syndrome MONDO:0015329 Orphanet:2333 Orphanet:139021 obsolete malformation syndrome with short stature -MONDO:0016516 Kenny-Caffey syndrome MONDO:0015895 Orphanet:2333 Orphanet:181402 obsolete syndrome with hypoparathyroidism -MONDO:0016516 Kenny-Caffey syndrome MONDO:0019699 Orphanet:2333 Orphanet:93440 obsolete slender bone dysplasia -MONDO:0016516 Kenny-Caffey syndrome MONDO:0026187 Orphanet:2333 Orphanet:183570 obsolete genetic malformation syndrome with short stature -MONDO:0016516 Kenny-Caffey syndrome MONDO:8000032 Orphanet:2333 Orphanet:377789 obsolete malformation syndrome -MONDO:0016517 obsolete rare genetic vascular disease MONDO:0021198 Orphanet:233655 Orphanet:98053 obsolete rare genetic disease -MONDO:0016517 obsolete rare genetic vascular disease MONDO:0024471 Orphanet:233655 Orphanet:496924 obsolete non-inflammatory vasculopathy -MONDO:0016518 obsolete isolated punctate palmoplantar keratoderma MONDO:0017675 Orphanet:2338 Orphanet:307967 punctate palmoplantar keratoderma -MONDO:0016520 obsolete isolated Klippel-Feil syndrome MONDO:0015246 Orphanet:2345 Orphanet:117573 obsolete syndromic anorectal malformation -MONDO:0016520 obsolete isolated Klippel-Feil syndrome MONDO:0019711 Orphanet:2345 Orphanet:93454 obsolete dysostosis with predominant vertebral and costal involvement -MONDO:0016520 obsolete isolated Klippel-Feil syndrome MONDO:8000032 Orphanet:2345 Orphanet:377789 obsolete malformation syndrome -MONDO:0016521 muscular pseudohypertrophy-hypothyroidism syndrome MONDO:0015778 Orphanet:2349 Orphanet:177107 obsolete syndromic hypothyroidism -MONDO:0016522 Kousseff syndrome MONDO:0017120 Orphanet:2351 Orphanet:269531 obsolete other syndrome with a central nervous system malformation as major feature -MONDO:0016522 Kousseff syndrome MONDO:8000032 Orphanet:2351 Orphanet:377789 obsolete malformation syndrome -MONDO:0016523 bronchogenic cyst MONDO:8000030 Orphanet:2357 Orphanet:377791 obsolete morphological anomaly -MONDO:0016524 obsolete congenital vascular bone syndrome MONDO:0015958 Orphanet:235832 Orphanet:183524 obsolete rare genetic bone disease -MONDO:0016524 obsolete congenital vascular bone syndrome MONDO:0019684 Orphanet:235832 Orphanet:93419 obsolete rare bone disease -MONDO:0016525 familial hyperaldosteronism MONDO:0015512 Orphanet:235936 Orphanet:156629 obsolete genetic hypertension -MONDO:0016525 familial hyperaldosteronism MONDO:0015971 Orphanet:371861 Orphanet:183637 obsolete rare genetic adrenal disease -MONDO:0016525 familial hyperaldosteronism MONDO:0016508 Orphanet:235936 Orphanet:231641 obsolete rare non surgically correctable form of primary aldosteronism -MONDO:0016526 trisomy 9p MONDO:0020226 Orphanet:236 Orphanet:98642 obsolete chromosomal anomaly with cataract -MONDO:0016526 trisomy 9p MONDO:8000032 Orphanet:236 Orphanet:377789 obsolete malformation syndrome -MONDO:0016528 limb body wall complex MONDO:0015216 Orphanet:2369 Orphanet:108979 obsolete syndromic diaphragmatic or abdominal wall malformation -MONDO:0016528 limb body wall complex MONDO:8000032 Orphanet:2369 Orphanet:377789 obsolete malformation syndrome -MONDO:0016529 duplication of urethra MONDO:0015934 Orphanet:237 Orphanet:182124 obsolete non-syndromic urogenital tract malformation of male and female -MONDO:0016529 duplication of urethra MONDO:0019720 Orphanet:237 Orphanet:93546 obsolete non-syndromic renal or urinary tract malformation -MONDO:0016529 duplication of urethra MONDO:8000030 Orphanet:237 Orphanet:377791 obsolete morphological anomaly -MONDO:0016530 laryngocele MONDO:0015504 Orphanet:2372 Orphanet:156249 obsolete larynx anomaly -MONDO:0016530 laryngocele MONDO:8000032 Orphanet:2372 Orphanet:377789 obsolete malformation syndrome -MONDO:0016531 digestive duplication MONDO:0015211 Orphanet:238 Orphanet:108967 obsolete non-syndromic intestinal malformation -MONDO:0016531 digestive duplication MONDO:8000030 Orphanet:238 Orphanet:377791 obsolete morphological anomaly -MONDO:0016532 Lennox-Gastaut syndrome MONDO:0035862 Orphanet:2382 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome -MONDO:0016533 apolipoprotein A-II amyloidosis MONDO:8000031 Orphanet:238269 Orphanet:557494 obsolete subtype of a disorder -MONDO:0016535 hypohidrotic ectodermal dysplasia MONDO:0020014 Orphanet:238468 Orphanet:98027 obsolete rare disease with odontological manifestation -MONDO:0016535 hypohidrotic ectodermal dysplasia MONDO:0020194 Orphanet:238468 Orphanet:98604 obsolete congenital alacrima MONDO:0016536 obsolete autosomal recessive lymphoproliferative disease MONDO:0000001 Orphanet:238505 Orphanet:377788 disease -MONDO:0016536 obsolete autosomal recessive lymphoproliferative disease MONDO:0016537 Orphanet:238505 Orphanet:238510 lymphoproliferative syndrome -MONDO:0016537 lymphoproliferative syndrome MONDO:0015710 Orphanet:238510 Orphanet:169361 obsolete immune dysregulation disease with immunodeficiency -MONDO:0016542 immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections syndrome MONDO:0015940 Orphanet:238569 Orphanet:182231 obsolete rare rheumatologic disease -MONDO:0016542 immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections syndrome MONDO:0033967 Orphanet:238569 Orphanet:529974 obsolete immune dysregulation with inflammatory bowel disease -MONDO:0016543 hyperphenylalaninemia due to tetrahydrobiopterin deficiency MONDO:0017756 Orphanet:238583 Orphanet:309819 obsolete disorder of pterin metabolism -MONDO:0016544 IgG4-related mesenteritis MONDO:0015621 Orphanet:238593 Orphanet:165711 obsolete rare abdominal surgical disease -MONDO:0016544 IgG4-related mesenteritis MONDO:8000031 Orphanet:238593 Orphanet:557494 obsolete subtype of a disorder -MONDO:0016545 leukoencephalopathy-palmoplantar keratoderma syndrome MONDO:0017680 Orphanet:2386 Orphanet:308041 obsolete autosomal recessive disease associated with punctate palmoplantar keratoderma as a major feature -MONDO:0016546 primary orthostatic tremor MONDO:0017644 Orphanet:238606 Orphanet:306712 obsolete rare tremor disorder -MONDO:0016547 Beckwith-Wiedemann syndrome due to NSD1 mutation MONDO:8000031 Orphanet:238613 Orphanet:557494 obsolete subtype of a disorder -MONDO:0016548 megacystis-megaureter syndrome MONDO:0019720 Orphanet:238637 Orphanet:93546 obsolete non-syndromic renal or urinary tract malformation -MONDO:0016549 primary megaureter, adult-onset form MONDO:8000031 Orphanet:238642 Orphanet:557494 obsolete subtype of a disorder -MONDO:0016550 congenital primary megaureter, obstructed form MONDO:8000031 Orphanet:238646 Orphanet:557494 obsolete subtype of a disorder -MONDO:0016551 congenital primary megaureter, refluxing form MONDO:8000031 Orphanet:238650 Orphanet:557494 obsolete subtype of a disorder -MONDO:0016552 congenital primary megaureter, nonrefluxing and unobstructed form MONDO:8000031 Orphanet:238654 Orphanet:557494 obsolete subtype of a disorder -MONDO:0016553 isolated congenital hypogonadotropic hypogonadism MONDO:0018398 Orphanet:238666 Orphanet:399839 obsolete female infertility due to a congenital hypogonadotropic hypogonadism -MONDO:0016558 familial congenital mirror movements MONDO:0015143 Orphanet:238722 Orphanet:102003 obsolete rare movement disorder -MONDO:0016558 familial congenital mirror movements MONDO:0015957 Orphanet:238722 Orphanet:183521 obsolete rare genetic movement disorder -MONDO:0016558 familial congenital mirror movements MONDO:0035862 Orphanet:238722 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome -MONDO:0016559 glaucoma secondary to spherophakia/ectopia lentis and megalocornea MONDO:0020216 Orphanet:238763 Orphanet:98631 obsolete secondary dysgenetic glaucoma -MONDO:0016559 glaucoma secondary to spherophakia/ectopia lentis and megalocornea MONDO:8000032 Orphanet:238763 Orphanet:377789 obsolete malformation syndrome -MONDO:0016561 1q44 microdeletion syndrome MONDO:8000032 Orphanet:238769 Orphanet:377789 obsolete malformation syndrome -MONDO:0016565 obsolete syndromic genetic obesity MONDO:0015330 Orphanet:240371 Orphanet:139024 obsolete overgrowth/obesity syndrome -MONDO:0016565 obsolete syndromic genetic obesity MONDO:0019182 Orphanet:240371 Orphanet:77828 inherited obesity -MONDO:0016567 locked-in syndrome MONDO:0020009 Orphanet:2406 Orphanet:98006 obsolete rare neurologic disease -MONDO:0016568 Lowe-Kohn-Cohen syndrome MONDO:0015246 Orphanet:2408 Orphanet:117573 obsolete syndromic anorectal malformation -MONDO:0016568 Lowe-Kohn-Cohen syndrome MONDO:0019589 Orphanet:2408 Orphanet:90642 obsolete syndromic genetic hearing loss -MONDO:0016568 Lowe-Kohn-Cohen syndrome MONDO:8000032 Orphanet:2408 Orphanet:377789 obsolete malformation syndrome -MONDO:0016570 primary pulmonary lymphoma MONDO:0015119 Orphanet:2420 Orphanet:101945 obsolete bronchopulmonary tumor -MONDO:0016571 macrocephaly-short stature-paraplegia syndrome MONDO:0017121 Orphanet:2427 Orphanet:269546 obsolete syndrome with a Dandy-Walker malformation as major feature -MONDO:0016571 macrocephaly-short stature-paraplegia syndrome MONDO:0035863 Orphanet:2427 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0016571 macrocephaly-short stature-paraplegia syndrome MONDO:8000032 Orphanet:2427 Orphanet:377789 obsolete malformation syndrome -MONDO:0016573 acute fatty liver of pregnancy MONDO:0015114 Orphanet:243367 Orphanet:101939 obsolete rare parenchymal liver disease -MONDO:0016573 acute fatty liver of pregnancy MONDO:0015582 Orphanet:243367 Orphanet:163637 obsolete rare disorder related with pregnancy, childbirth and puerperium -MONDO:0016574 hypo- and hypermelanotic cutaneous macules-retarded growth-intellectual disability syndrome MONDO:0026157 Orphanet:2435 Orphanet:183463 obsolete genetic pigmentation anomaly of the skin -MONDO:0016574 hypo- and hypermelanotic cutaneous macules-retarded growth-intellectual disability syndrome MONDO:0035862 Orphanet:2435 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome -MONDO:0016575 primary ciliary dyskinesia MONDO:0015118 Orphanet:244 Orphanet:101944 obsolete rare pulmonary disease -MONDO:0016575 primary ciliary dyskinesia MONDO:0015510 Orphanet:244 Orphanet:156610 obsolete rare genetic respiratory disease -MONDO:0016575 primary ciliary dyskinesia MONDO:0018395 Orphanet:244 Orphanet:399813 obsolete male infertility due to sperm motility disorder -MONDO:0016575 primary ciliary dyskinesia MONDO:0022399 Orphanet:244 Orphanet:156171 obsolete retinal ciliopathy due to mutation in the RPGR gene -MONDO:0016576 split hand-foot malformation MONDO:0800090 Orphanet:2440 Orphanet:498477 obsolete ectrodactyly with and without other manifestations -MONDO:0016576 split hand-foot malformation MONDO:8000032 Orphanet:2440 Orphanet:377789 obsolete malformation syndrome -MONDO:0016577 biliary atresia with splenic malformation syndrome MONDO:0015214 Orphanet:244283 Orphanet:108973 obsolete syndromic visceral malformation -MONDO:0016577 biliary atresia with splenic malformation syndrome MONDO:0034661 Orphanet:244283 Orphanet:498350 obsolete syndromic biliary atresia -MONDO:0016577 biliary atresia with splenic malformation syndrome MONDO:8000032 Orphanet:244283 Orphanet:377789 obsolete malformation syndrome -MONDO:0016578 obsolete mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies MONDO:0016387 Orphanet:2443 Orphanet:223713 mitochondrial oxidative phosphorylation disorder MONDO:0016579 obsolete dominant hypophosphatemia with nephrolithiasis or osteoporosis MONDO:0000001 Orphanet:244305 Orphanet:377788 disease -MONDO:0016579 obsolete dominant hypophosphatemia with nephrolithiasis or osteoporosis MONDO:0000044 Orphanet:244305 Orphanet:437 hereditary hypophosphatemic rickets -MONDO:0016580 congenital pulmonary airway malformation MONDO:0015221 Orphanet:2444 Orphanet:108993 obsolete non-syndromic respiratory or mediastinal malformation -MONDO:0016580 congenital pulmonary airway malformation MONDO:0015930 Orphanet:2444 Orphanet:182111 obsolete respiratory malformation -MONDO:0016580 congenital pulmonary airway malformation MONDO:8000032 Orphanet:2444 Orphanet:377789 obsolete malformation syndrome -MONDO:0016581 conotruncal heart malformations MONDO:0020285 Orphanet:2445 Orphanet:98717 obsolete transposition of the great arteries and conotruncal cardiac anomaly -MONDO:0016582 congenital mitral malformation MONDO:0020288 Orphanet:2447 Orphanet:98720 obsolete atrioventricular valve anomaly -MONDO:0016584 mandibuloacral dysplasia MONDO:0020225 Orphanet:2457 Orphanet:98641 obsolete syndromic cataract -MONDO:0016584 mandibuloacral dysplasia MONDO:0031689 Orphanet:2457 Orphanet:363245 obsolete genetic progeroid syndrome -MONDO:0016584 mandibuloacral dysplasia MONDO:0043008 Orphanet:2457 Orphanet:330206 obsolete genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability -MONDO:0016584 mandibuloacral dysplasia MONDO:8000032 Orphanet:2457 Orphanet:377789 obsolete malformation syndrome -MONDO:0016587 arrhythmogenic right ventricular cardiomyopathy MONDO:0020029 Orphanet:247 Orphanet:98054 obsolete rare genetic cardiac disease -MONDO:0016588 infantile mercury poisoning MONDO:0035328 Orphanet:247165 Orphanet:556508 obsolete rare disorder due to poisoning MONDO:0016589 obsolete progressive cerebello-cerebral atrophy MONDO:0000001 Orphanet:247198 Orphanet:377788 disease -MONDO:0016589 obsolete progressive cerebello-cerebral atrophy MONDO:0017120 Orphanet:247198 Orphanet:269531 obsolete other syndrome with a central nervous system malformation as major feature -MONDO:0016591 sporadic adult-onset ataxia of unknown etiology MONDO:0016592 Orphanet:247234 Orphanet:247239 obsolete non-hereditary degenerative ataxia -MONDO:0016592 obsolete non-hereditary degenerative ataxia MONDO:0000437 Orphanet:247239 Orphanet:102002 cerebellar ataxia -MONDO:0016595 inhalational anthrax MONDO:0015575 Orphanet:247257 Orphanet:163582 obsolete rare bacterial infectious disease -MONDO:0016596 hyperphosphatasia-intellectual disability syndrome MONDO:0018292 Orphanet:247262 Orphanet:371195 obsolete congenital disorder of glycosylation-related bone disorder -MONDO:0016596 hyperphosphatasia-intellectual disability syndrome MONDO:0035863 Orphanet:247262 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0016596 hyperphosphatasia-intellectual disability syndrome MONDO:0800094 Orphanet:247262 Orphanet:498454 obsolete dysostosis with brachydactyly with extraskeletal manifestations MONDO:0016599 obsolete autosomal dominant secondary polycythemia MONDO:0000001 Orphanet:247511 Orphanet:377788 disease -MONDO:0016599 obsolete autosomal dominant secondary polycythemia MONDO:0016540 Orphanet:247511 Orphanet:238536 congenital secondary polycythemia -MONDO:0016600 acute neonatal citrullinemia type I MONDO:8000031 Orphanet:247546 Orphanet:557494 obsolete subtype of a disorder -MONDO:0016601 adult-onset citrullinemia type I MONDO:8000031 Orphanet:247573 Orphanet:557494 obsolete subtype of a disorder -MONDO:0016603 citrullinemia type II MONDO:0015115 Orphanet:247585 Orphanet:101940 obsolete rare genetic metabolic liver disease -MONDO:0016604 dysraphism-cleft lip/palate-limb reduction defects syndrome MONDO:0015335 Orphanet:2476 Orphanet:139039 obsolete Mendelian syndromes with cleft lip/palate -MONDO:0016604 dysraphism-cleft lip/palate-limb reduction defects syndrome MONDO:8000032 Orphanet:2476 Orphanet:377789 obsolete malformation syndrome -MONDO:0016605 perinatal lethal hypophosphatasia MONDO:8000031 Orphanet:247623 Orphanet:557494 obsolete subtype of a disorder -MONDO:0016606 obsolete prenatal benign hypophosphatasia MONDO:0015338 Orphanet:247638 Orphanet:139393 syndromic craniosynostosis -MONDO:0016606 obsolete prenatal benign hypophosphatasia MONDO:0018570 Orphanet:247638 Orphanet:436 hypophosphatasia -MONDO:0016606 obsolete prenatal benign hypophosphatasia MONDO:8000031 Orphanet:247638 Orphanet:557494 obsolete subtype of a disorder -MONDO:0016607 odontohypophosphatasia MONDO:0020014 Orphanet:247685 Orphanet:98027 obsolete rare disease with odontological manifestation -MONDO:0016607 odontohypophosphatasia MONDO:8000031 Orphanet:247685 Orphanet:557494 obsolete subtype of a disorder -MONDO:0016608 megalencephaly MONDO:0016054 Orphanet:2477 Orphanet:199633 obsolete cerebral malformation -MONDO:0016608 megalencephaly MONDO:8000032 Orphanet:2477 Orphanet:377789 obsolete malformation syndrome -MONDO:0016611 lipoblastoma MONDO:0019099 Orphanet:247762 Orphanet:71209 obsolete rare soft tissue tumor -MONDO:0016613 APC-related attenuated familial adenomatous polyposis MONDO:8000031 Orphanet:247806 Orphanet:557494 obsolete subtype of a disorder -MONDO:0016614 autosomal recessive ataxia due to PEX10 deficiency MONDO:0019058 Orphanet:247815 Orphanet:68385 obsolete neurometabolic disease -MONDO:0016619 autosomal recessive hypohidrotic ectodermal dysplasia MONDO:8000031 Orphanet:248 Orphanet:557494 obsolete subtype of a disorder -MONDO:0016620 primary hypertrophic osteoarthropathy MONDO:0018798 Orphanet:2796 Orphanet:477808 obsolete other genetic dermis disorder -MONDO:0016620 primary hypertrophic osteoarthropathy MONDO:0800084 Orphanet:248095 Orphanet:93444 obsolete primary bone dysplasia with increased bone density -MONDO:0016620 primary hypertrophic osteoarthropathy MONDO:8000032 Orphanet:2796 Orphanet:377789 obsolete malformation syndrome -MONDO:0016621 juvenile Huntington disease MONDO:0017646 Orphanet:248111 Orphanet:306719 obsolete neurodegenerative disease with chorea -MONDO:0016621 juvenile Huntington disease MONDO:0020136 Orphanet:248111 Orphanet:98534 obsolete neurodegenerative disease with dementia -MONDO:0016621 juvenile Huntington disease MONDO:0021037 Orphanet:248111 Orphanet:276058 obsolete genetic neurodegenerative disease with dementia -MONDO:0016622 Melhem-Fahl syndrome MONDO:0019711 Orphanet:2482 Orphanet:93454 obsolete dysostosis with predominant vertebral and costal involvement -MONDO:0016622 Melhem-Fahl syndrome MONDO:8000032 Orphanet:2482 Orphanet:377789 obsolete malformation syndrome -MONDO:0016623 obsolete rare deficiency anemia MONDO:0015223 Orphanet:248293 Orphanet:108997 obsolete rare anemia -MONDO:0016624 inherited deficiency anemia MONDO:0015972 Orphanet:248296 Orphanet:183651 obsolete rare constitutional anemia -MONDO:0016624 inherited deficiency anemia MONDO:0016623 Orphanet:248296 Orphanet:248293 obsolete rare deficiency anemia -MONDO:0016625 acquired deficiency anemia MONDO:0016623 Orphanet:248302 Orphanet:248293 obsolete rare deficiency anemia -MONDO:0016627 obsolete rare hemorrhagic disorder MONDO:0020116 Orphanet:248308 Orphanet:98429 obsolete rare blood coagulation disease -MONDO:0016628 obsolete hemorrhagic disorder due to a coagulation factors defect MONDO:0016627 Orphanet:248315 Orphanet:248308 obsolete rare hemorrhagic disorder -MONDO:0016629 obsolete hemorrhagic disorder due to a platelet anomaly MONDO:0016627 Orphanet:248326 Orphanet:248308 obsolete rare hemorrhagic disorder -MONDO:0016630 isolated delta-storage pool disease MONDO:0018796 Orphanet:248340 Orphanet:477797 obsolete isolated constitutional thrombocytopenia -MONDO:0016631 obsolete hemorrhagic disorder due to an acquired platelet anomaly MONDO:0016629 Orphanet:248347 Orphanet:248326 obsolete hemorrhagic disorder due to a platelet anomaly -MONDO:0016632 obsolete thrombotic disorder due to a coagulation factors defect MONDO:0015913 Orphanet:248358 Orphanet:182054 obsolete rare thrombotic disease of hematologic origin -MONDO:0016633 obsolete thrombotic disorder due to a constitutional coagulation factors defect MONDO:0016632 Orphanet:248361 Orphanet:248358 obsolete thrombotic disorder due to a coagulation factors defect -MONDO:0016633 obsolete thrombotic disorder due to a constitutional coagulation factors defect MONDO:0021181 Orphanet:248361 Orphanet:183654 inherited blood coagulation disorder -MONDO:0016634 obsolete thrombotic disorder due to an acquired coagulation factors defect MONDO:0016632 Orphanet:248365 Orphanet:248358 obsolete thrombotic disorder due to a coagulation factors defect -MONDO:0016635 obsolete thrombotic disorder due to a platelet anomaly MONDO:0015913 Orphanet:248368 Orphanet:182054 obsolete rare thrombotic disease of hematologic origin -MONDO:0016636 obsolete thrombotic disorder due to a constitutional platelet anomaly MONDO:0016635 Orphanet:248401 Orphanet:248368 obsolete thrombotic disorder due to a platelet anomaly -MONDO:0016636 obsolete thrombotic disorder due to a constitutional platelet anomaly MONDO:0021181 Orphanet:248401 Orphanet:183654 inherited blood coagulation disorder -MONDO:0016637 obsolete thrombotic disorder due to an acquired platelet anomaly MONDO:0016635 Orphanet:248404 Orphanet:248368 obsolete thrombotic disorder due to a platelet anomaly -MONDO:0016638 familial hypodysfibrinogenemia MONDO:8000031 Orphanet:248408 Orphanet:557494 obsolete subtype of a disorder -MONDO:0016639 lower limb deficiency-hypospadias syndrome MONDO:0015620 Orphanet:2487 Orphanet:165707 obsolete syndromic urogenital tract malformation -MONDO:0016639 lower limb deficiency-hypospadias syndrome MONDO:8000032 Orphanet:2487 Orphanet:377789 obsolete malformation syndrome -MONDO:0016641 limb transversal defect-cardiac anomaly syndrome MONDO:0017432 Orphanet:2492 Orphanet:294955 obsolete syndrome with limb reduction defects -MONDO:0016641 limb transversal defect-cardiac anomaly syndrome MONDO:0017434 Orphanet:2492 Orphanet:294959 obsolete syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy -MONDO:0016641 limb transversal defect-cardiac anomaly syndrome MONDO:8000032 Orphanet:2492 Orphanet:377789 obsolete malformation syndrome -MONDO:0016642 meningioma MONDO:0019833 Orphanet:2495 Orphanet:95503 obsolete pituitary hormone deficiency from tumoral origin -MONDO:0016643 frontonasal dysplasia MONDO:0800085 Orphanet:250 Orphanet:93453 obsolete dysostosis with predominant craniofacial involvement -MONDO:0016645 obsolete rare neoplastic disease MONDO:8000033 Orphanet:250908 Orphanet:557492 obsolete group of disorders -MONDO:0016646 autosomal dominant optic atrophy and peripheral neuropathy MONDO:0016799 Orphanet:250932 Orphanet:254822 obsolete mitochondrial oxidative phosphorylation disorder with no known mechanism -MONDO:0016647 obsolete autosomal recessive Stickler syndrome MONDO:0019354 Orphanet:250984 Orphanet:828 Stickler syndrome -MONDO:0016647 obsolete autosomal recessive Stickler syndrome MONDO:0019692 Orphanet:250984 Orphanet:93429 obsolete multiple epiphyseal dysplasia and pseudoachondroplasia -MONDO:0016647 obsolete autosomal recessive Stickler syndrome MONDO:8000031 Orphanet:250984 Orphanet:557494 obsolete subtype of a disorder -MONDO:0016648 multiple epiphyseal dysplasia MONDO:0019692 Orphanet:251 Orphanet:93429 obsolete multiple epiphyseal dysplasia and pseudoachondroplasia -MONDO:0016649 Warburg micro syndrome MONDO:0015147 Orphanet:2510 Orphanet:102010 obsolete other syndrome with lissencephaly as a major feature -MONDO:0016649 Warburg micro syndrome MONDO:0016055 Orphanet:2510 Orphanet:199639 obsolete syndrome with corpus callosum agenesis /dysgenesis as a major feature -MONDO:0016649 Warburg micro syndrome MONDO:0017119 Orphanet:2510 Orphanet:269528 obsolete syndrome with microcephaly as major feature -MONDO:0016649 Warburg micro syndrome MONDO:0017122 Orphanet:2510 Orphanet:269573 obsolete genetic syndrome with corpus callosum agenesis/dysgenesis as a major feature -MONDO:0016649 Warburg micro syndrome MONDO:0020225 Orphanet:2510 Orphanet:98641 obsolete syndromic cataract -MONDO:0016649 Warburg micro syndrome MONDO:8000032 Orphanet:2510 Orphanet:377789 obsolete malformation syndrome -MONDO:0016650 paternal uniparental disomy of chromosome 1 MONDO:0020057 Orphanet:251004 Orphanet:98154 obsolete uniparental disomy of paternal origin -MONDO:0016650 paternal uniparental disomy of chromosome 1 MONDO:8000032 Orphanet:251004 Orphanet:377789 obsolete malformation syndrome -MONDO:0016651 maternal uniparental disomy of chromosome 1 MONDO:0020056 Orphanet:251009 Orphanet:98153 obsolete uniparental disomy of maternal origin -MONDO:0016651 maternal uniparental disomy of chromosome 1 MONDO:8000032 Orphanet:251009 Orphanet:377789 obsolete malformation syndrome -MONDO:0016652 2q31.1 microdeletion syndrome MONDO:8000032 Orphanet:251014 Orphanet:377789 obsolete malformation syndrome -MONDO:0016653 2q33.1 microdeletion syndrome MONDO:8000031 Orphanet:251028 Orphanet:557494 obsolete subtype of a disorder -MONDO:0016654 ring chromosome 5 MONDO:0018186 Orphanet:251043 Orphanet:363203 obsolete ring chromosome -MONDO:0016654 ring chromosome 5 MONDO:8000032 Orphanet:251043 Orphanet:377789 obsolete malformation syndrome -MONDO:0016655 6p22 microdeletion syndrome MONDO:8000032 Orphanet:251046 Orphanet:377789 obsolete malformation syndrome -MONDO:0016656 7q31 microdeletion syndrome MONDO:8000032 Orphanet:251061 Orphanet:377789 obsolete malformation syndrome -MONDO:0016657 8p11.2 deletion syndrome MONDO:8000032 Orphanet:251066 Orphanet:377789 obsolete malformation syndrome -MONDO:0016658 8p23.1 microdeletion syndrome MONDO:0015620 Orphanet:251071 Orphanet:165707 obsolete syndromic urogenital tract malformation -MONDO:0016658 8p23.1 microdeletion syndrome MONDO:8000032 Orphanet:251071 Orphanet:377789 obsolete malformation syndrome -MONDO:0016659 8p23.1 duplication syndrome MONDO:8000032 Orphanet:251076 Orphanet:377789 obsolete malformation syndrome -MONDO:0016660 autosomal recessive primary microcephaly MONDO:0034962 Orphanet:2512 Orphanet:519343 obsolete rare ophthalmic disorder with cortical involvement -MONDO:0016660 autosomal recessive primary microcephaly MONDO:0035863 Orphanet:2512 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0016660 autosomal recessive primary microcephaly MONDO:8000031 Orphanet:2512 Orphanet:557494 obsolete subtype of a disorder -MONDO:0016661 infantile onset panniculitis with uveitis and systemic granulomatosis MONDO:0017370 Orphanet:251304 Orphanet:290842 obsolete autoinflammatory syndrome with skin involvement -MONDO:0016661 infantile onset panniculitis with uveitis and systemic granulomatosis MONDO:0017955 Orphanet:251304 Orphanet:324930 obsolete granulomatous autoinflammatory syndrome -MONDO:0016662 idiopathic recurrent pericarditis MONDO:0017957 Orphanet:251307 Orphanet:324936 obsolete unclassified autoinflammatory syndrome -MONDO:0016663 overlapping connective tissue disease MONDO:0015939 Orphanet:251312 Orphanet:182228 obsolete systemic autoimmune disease MONDO:0016665 obsolete unclassified vasculitis MONDO:0000001 Orphanet:251328 Orphanet:377788 disease -MONDO:0016665 obsolete unclassified vasculitis MONDO:0018882 Orphanet:251328 Orphanet:52759 vasculitis -MONDO:0016667 obsolete sickle cell disease associated with an other hemoglobin anomaly MONDO:0017146 Orphanet:251355 Orphanet:275752 obsolete sickle cell disease and related diseases -MONDO:0016668 sickle cell-beta-thalassemia disease syndrome MONDO:0016667 Orphanet:251359 Orphanet:251355 obsolete sickle cell disease associated with an other hemoglobin anomaly -MONDO:0016669 sickle cell-hemoglobin c disease syndrome MONDO:0016667 Orphanet:251365 Orphanet:251355 obsolete sickle cell disease associated with an other hemoglobin anomaly -MONDO:0016670 sickle cell-hemoglobin d disease syndrome MONDO:0016667 Orphanet:251370 Orphanet:251355 obsolete sickle cell disease associated with an other hemoglobin anomaly -MONDO:0016671 sickle cell-hemoglobin E disease syndrome MONDO:0016667 Orphanet:251375 Orphanet:251355 obsolete sickle cell disease associated with an other hemoglobin anomaly -MONDO:0016672 hereditary persistence of fetal hemoglobin-sickle cell disease syndrome MONDO:0016667 Orphanet:251380 Orphanet:251355 obsolete sickle cell disease associated with an other hemoglobin anomaly -MONDO:0016673 localized junctional epidermolysis bullosa, non-Herlitz type MONDO:0020014 Orphanet:251393 Orphanet:98027 obsolete rare disease with odontological manifestation -MONDO:0016674 46,XY partial gonadal dysgenesis MONDO:0017966 Orphanet:251510 Orphanet:325118 obsolete 46,XY disorder of gonadal development -MONDO:0016674 46,XY partial gonadal dysgenesis MONDO:0018402 Orphanet:251510 Orphanet:399877 obsolete female infertility due to gonadal dysgenesis -MONDO:0016674 46,XY partial gonadal dysgenesis MONDO:0020038 Orphanet:251510 Orphanet:98074 obsolete gonadal dysgenesis of gynecological interest -MONDO:0016674 46,XY partial gonadal dysgenesis MONDO:0020090 Orphanet:251510 Orphanet:98313 obsolete male infertility due to gonadal dysgenesis -MONDO:0016674 46,XY partial gonadal dysgenesis MONDO:8000032 Orphanet:251510 Orphanet:377789 obsolete malformation syndrome -MONDO:0016675 distal arthrogryposis type 10 MONDO:8000032 Orphanet:251515 Orphanet:377789 obsolete malformation syndrome -MONDO:0016676 recurrent infections-inflammatory syndrome due to zinc metabolism disorder syndrome MONDO:0017370 Orphanet:251523 Orphanet:290842 obsolete autoinflammatory syndrome with skin involvement -MONDO:0016676 recurrent infections-inflammatory syndrome due to zinc metabolism disorder syndrome MONDO:0017954 Orphanet:251523 Orphanet:324927 obsolete pyogenic autoinflammatory syndrome -MONDO:0016676 recurrent infections-inflammatory syndrome due to zinc metabolism disorder syndrome MONDO:0019301 Orphanet:251523 Orphanet:79387 obsolete metabolic disease with skin involvement -MONDO:0016677 toxic or drug-related embryofetopathy MONDO:0015224 Orphanet:251529 Orphanet:108999 obsolete rare intoxication -MONDO:0016677 toxic or drug-related embryofetopathy MONDO:0018880 Orphanet:251529 Orphanet:52662 obsolete rare teratologic disease -MONDO:0016678 obsolete maternal disease-related embryofetopathy MONDO:0018880 Orphanet:251535 Orphanet:52662 obsolete rare teratologic disease -MONDO:0016679 obsolete rare tumor of neuroepithelial tissue MONDO:0020036 Orphanet:251558 Orphanet:98062 obsolete rare nervous system tumor -MONDO:0016681 gliosarcoma MONDO:8000031 Orphanet:251576 Orphanet:557494 obsolete subtype of a disorder -MONDO:0016682 giant cell glioblastoma MONDO:8000031 Orphanet:251579 Orphanet:557494 obsolete subtype of a disorder -MONDO:0016687 protoplasmic astrocytoma MONDO:8000031 Orphanet:251598 Orphanet:557494 obsolete subtype of a disorder -MONDO:0016688 fibrillary astrocytoma MONDO:8000031 Orphanet:251601 Orphanet:557494 obsolete subtype of a disorder -MONDO:0016689 gemistocytic astrocytoma MONDO:8000031 Orphanet:251604 Orphanet:557494 obsolete subtype of a disorder -MONDO:0016692 pilomyxoid astrocytoma MONDO:8000031 Orphanet:251615 Orphanet:557494 obsolete subtype of a disorder -MONDO:0016701 obsolete oligoastrocytic tumor MONDO:0021042 Orphanet:251651 Orphanet:182067 glioma -MONDO:0016702 oligoastrocytoma MONDO:0016701 Orphanet:251656 Orphanet:251651 obsolete oligoastrocytic tumor -MONDO:0016703 anaplastic oligoastrocytoma MONDO:0016701 Orphanet:251663 Orphanet:251651 obsolete oligoastrocytic tumor -MONDO:0016704 obsolete glial tumor of neuroepithelial tissue with unknown origin MONDO:0021042 Orphanet:251668 Orphanet:182067 glioma -MONDO:0016705 angiocentric glioma MONDO:0016704 Orphanet:251671 Orphanet:251668 obsolete glial tumor of neuroepithelial tissue with unknown origin -MONDO:0016706 chordoid glioma of the third ventricle MONDO:0016704 Orphanet:251674 Orphanet:251668 obsolete glial tumor of neuroepithelial tissue with unknown origin -MONDO:0016707 astroblastoma MONDO:0016704 Orphanet:251679 Orphanet:251668 obsolete glial tumor of neuroepithelial tissue with unknown origin -MONDO:0016708 obsolete embryonal tumor of neuroepithelial tissue MONDO:0016679 Orphanet:251852 Orphanet:251558 obsolete rare tumor of neuroepithelial tissue -MONDO:0016709 anaplastic/large cell medulloblastoma MONDO:8000031 Orphanet:251855 Orphanet:557494 obsolete subtype of a disorder -MONDO:0016710 medulloblastoma with extensive nodularity MONDO:8000031 Orphanet:251858 Orphanet:557494 obsolete subtype of a disorder -MONDO:0016711 desmoplastic/nodular medulloblastoma MONDO:8000031 Orphanet:251863 Orphanet:557494 obsolete subtype of a disorder -MONDO:0016712 classic medulloblastoma MONDO:8000031 Orphanet:251867 Orphanet:557494 obsolete subtype of a disorder -MONDO:0016713 central nervous system Ewing sarcoma/peripheral primitive neuroectodermal tumor MONDO:0016708 Orphanet:251870 Orphanet:251852 obsolete embryonal tumor of neuroepithelial tissue -MONDO:0016717 choroid plexus neoplasm MONDO:0016679 Orphanet:251896 Orphanet:251558 obsolete rare tumor of neuroepithelial tissue -MONDO:0016719 microcephaly-seizures-intellectual disability-heart disease syndrome MONDO:0015506 Orphanet:2519 Orphanet:156532 obsolete rare syndrome with cardiac malformations -MONDO:0016719 microcephaly-seizures-intellectual disability-heart disease syndrome MONDO:0035863 Orphanet:2519 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0016719 microcephaly-seizures-intellectual disability-heart disease syndrome MONDO:8000032 Orphanet:2519 Orphanet:377789 obsolete malformation syndrome -MONDO:0016721 obsolete pineal tumor of neuroepithelial tissue MONDO:0016679 Orphanet:251905 Orphanet:251558 obsolete rare tumor of neuroepithelial tissue -MONDO:0016722 pineoblastoma MONDO:0016721 Orphanet:251909 Orphanet:251905 obsolete pineal tumor of neuroepithelial tissue -MONDO:0016723 pineocytoma MONDO:0016721 Orphanet:251912 Orphanet:251905 obsolete pineal tumor of neuroepithelial tissue -MONDO:0016724 papillary tumor of the pineal region MONDO:0016721 Orphanet:251915 Orphanet:251905 obsolete pineal tumor of neuroepithelial tissue -MONDO:0016726 obsolete neuronal tumor MONDO:0016679 Orphanet:251924 Orphanet:251558 obsolete rare tumor of neuroepithelial tissue -MONDO:0016727 extraventricular neurocytoma MONDO:0016726 Orphanet:251927 Orphanet:251924 obsolete neuronal tumor -MONDO:0016729 mixed neuronal-glial tumor MONDO:0016679 Orphanet:251934 Orphanet:251558 obsolete rare tumor of neuroepithelial tissue -MONDO:0016738 obsolete primary germ cell tumor of central nervous system MONDO:0018201 Orphanet:251995 Orphanet:363579 extragonadal germ cell tumor -MONDO:0016738 obsolete primary germ cell tumor of central nervous system MONDO:0020036 Orphanet:251995 Orphanet:98062 obsolete rare nervous system tumor -MONDO:0016739 yolk sac tumor of central nervous system MONDO:0016738 Orphanet:252006 Orphanet:251995 obsolete primary germ cell tumor of central nervous system -MONDO:0016739 yolk sac tumor of central nervous system MONDO:8000031 Orphanet:252006 Orphanet:557494 obsolete subtype of a disorder -MONDO:0016740 choriocarcinoma of the central nervous system MONDO:0016738 Orphanet:252015 Orphanet:251995 obsolete primary germ cell tumor of central nervous system -MONDO:0016742 mixed germ cell tumor of central nervous system MONDO:0016738 Orphanet:252021 Orphanet:251995 obsolete primary germ cell tumor of central nervous system -MONDO:0016742 mixed germ cell tumor of central nervous system MONDO:8000031 Orphanet:252021 Orphanet:557494 obsolete subtype of a disorder -MONDO:0016743 tumor of meninges MONDO:0020036 Orphanet:252025 Orphanet:98062 obsolete rare nervous system tumor -MONDO:0016744 obsolete primary melanocytic tumor of central nervous system MONDO:0016743 Orphanet:252028 Orphanet:252025 tumor of meninges -MONDO:0016745 diffuse leptomeningeal melanocytosis MONDO:0016744 Orphanet:252031 Orphanet:252028 obsolete primary melanocytic tumor of central nervous system -MONDO:0016746 meningeal melanocytoma MONDO:0016744 Orphanet:252046 Orphanet:252028 obsolete primary melanocytic tumor of central nervous system -MONDO:0016747 primary melanoma of the central nervous system MONDO:0016744 Orphanet:252050 Orphanet:252028 obsolete primary melanocytic tumor of central nervous system -MONDO:0016748 hemangioblastoma MONDO:0020036 Orphanet:252054 Orphanet:98062 obsolete rare nervous system tumor -MONDO:0016749 tumor of cranial and spinal nerves MONDO:0020036 Orphanet:252057 Orphanet:98062 obsolete rare nervous system tumor -MONDO:0016750 microcephaly-cleft palate syndrome MONDO:0015335 Orphanet:2521 Orphanet:139039 obsolete Mendelian syndromes with cleft lip/palate -MONDO:0016750 microcephaly-cleft palate syndrome MONDO:0035863 Orphanet:2521 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0016750 microcephaly-cleft palate syndrome MONDO:8000032 Orphanet:2521 Orphanet:377789 obsolete malformation syndrome -MONDO:0016751 malignant perineurioma MONDO:8000031 Orphanet:252128 Orphanet:557494 obsolete subtype of a disorder -MONDO:0016756 obsolete inherited nervous system cancer-predisposing syndrome MONDO:0020009 Orphanet:252190 Orphanet:98006 obsolete rare neurologic disease -MONDO:0016757 malignant triton tumor MONDO:8000031 Orphanet:252212 Orphanet:557494 obsolete subtype of a disorder -MONDO:0016758 microcephaly-brain defect-spasticity-hypernatremia syndrome MONDO:0017119 Orphanet:2523 Orphanet:269528 obsolete syndrome with microcephaly as major feature -MONDO:0016758 microcephaly-brain defect-spasticity-hypernatremia syndrome MONDO:0035863 Orphanet:2523 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0016758 microcephaly-brain defect-spasticity-hypernatremia syndrome MONDO:8000032 Orphanet:2523 Orphanet:377789 obsolete malformation syndrome -MONDO:0016759 pontocerebellar hypoplasia type 2 MONDO:0016131 Orphanet:2524 Orphanet:207012 obsolete spinal muscular atrophy associated with central nervous system anomaly -MONDO:0016759 pontocerebellar hypoplasia type 2 MONDO:8000032 Orphanet:2524 Orphanet:377789 obsolete malformation syndrome -MONDO:0016760 microcephaly-microcornea syndrome, Seemanova type MONDO:0017119 Orphanet:2528 Orphanet:269528 obsolete syndrome with microcephaly as major feature -MONDO:0016760 microcephaly-microcornea syndrome, Seemanova type MONDO:0020225 Orphanet:2528 Orphanet:98641 obsolete syndromic cataract -MONDO:0016760 microcephaly-microcornea syndrome, Seemanova type MONDO:0035863 Orphanet:2528 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0016760 microcephaly-microcornea syndrome, Seemanova type MONDO:8000032 Orphanet:2528 Orphanet:377789 obsolete malformation syndrome -MONDO:0016764 isolated anophthalmia-microphthalmia syndrome MONDO:0020147 Orphanet:2542 Orphanet:98555 obsolete anophthalmia-microphthalmia syndrome -MONDO:0016765 19p13.12 microdeletion syndrome MONDO:8000032 Orphanet:254346 Orphanet:377789 obsolete malformation syndrome -MONDO:0016766 obsolete rare lichen planus MONDO:0019268 Orphanet:254367 Orphanet:79353 epidermal disease -MONDO:0016767 obsolete cutaneous lichen planus MONDO:0016766 Orphanet:254370 Orphanet:254367 obsolete rare lichen planus -MONDO:0016768 obsolete rare mucosal lichen planus MONDO:0016766 Orphanet:254373 Orphanet:254367 obsolete rare lichen planus -MONDO:0016769 linear lichen planus MONDO:0016767 Orphanet:254379 Orphanet:254370 obsolete cutaneous lichen planus -MONDO:0016770 actinic lichen planus MONDO:0016767 Orphanet:254395 Orphanet:254370 obsolete cutaneous lichen planus -MONDO:0016771 annular atrophic lichen planus MONDO:0016767 Orphanet:254411 Orphanet:254370 obsolete cutaneous lichen planus -MONDO:0016772 annular lichen planus MONDO:0016767 Orphanet:254424 Orphanet:254370 obsolete cutaneous lichen planus -MONDO:0016773 atrophic lichen planus MONDO:0016767 Orphanet:254449 Orphanet:254370 obsolete cutaneous lichen planus -MONDO:0016774 lichen planus pigmentosus MONDO:0016767 Orphanet:254463 Orphanet:254370 obsolete cutaneous lichen planus -MONDO:0016775 lichen planus pemphigoides MONDO:0016767 Orphanet:254478 Orphanet:254370 obsolete cutaneous lichen planus -MONDO:0016776 frontal fibrosing alopecia MONDO:0016767 Orphanet:254492 Orphanet:254370 obsolete cutaneous lichen planus -MONDO:0016777 inhalational botulism MONDO:8000031 Orphanet:254504 Orphanet:557494 obsolete subtype of a disorder -MONDO:0016778 iatrogenic botulism MONDO:8000031 Orphanet:254509 Orphanet:557494 obsolete subtype of a disorder -MONDO:0016779 multiple congenital anomalies due to 14q32.2 maternally expressed gene defect MONDO:0035863 Orphanet:254519 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0016779 multiple congenital anomalies due to 14q32.2 maternally expressed gene defect MONDO:8000032 Orphanet:254519 Orphanet:377789 obsolete malformation syndrome -MONDO:0016780 paternal 14q32.2 microdeletion syndrome MONDO:8000031 Orphanet:254525 Orphanet:557494 obsolete subtype of a disorder -MONDO:0016781 maternal 14q32.2 microdeletion syndrome MONDO:8000031 Orphanet:254528 Orphanet:557494 obsolete subtype of a disorder -MONDO:0016782 paternal 14q32.2 hypomethylation syndrome MONDO:8000031 Orphanet:254531 Orphanet:557494 obsolete subtype of a disorder -MONDO:0016783 maternal 14q32.2 hypermethylation syndrome MONDO:8000031 Orphanet:254534 Orphanet:557494 obsolete subtype of a disorder -MONDO:0016784 obsolete gestational trophoblastic disease MONDO:0020037 Orphanet:254685 Orphanet:98063 obsolete rare gynecological tumor -MONDO:0016785 complete hydatidiform mole MONDO:8000031 Orphanet:254688 Orphanet:557494 obsolete subtype of a disorder -MONDO:0016786 partial hydatidiform mole MONDO:8000031 Orphanet:254693 Orphanet:557494 obsolete subtype of a disorder -MONDO:0016788 obsolete genetic hyperferritinemia without iron overload MONDO:0018652 Orphanet:254704 Orphanet:447874 obsolete biological anomaly without phenotypic characterization -MONDO:0016788 obsolete genetic hyperferritinemia without iron overload MONDO:0032011 Orphanet:254704 Orphanet:377790 obsolete biological anomaly -MONDO:0016791 obsolete mitochondrial oxidative phosphorylation disorder due to mitochondrial DNA anomalies MONDO:0016387 Orphanet:254758 Orphanet:223713 mitochondrial oxidative phosphorylation disorder -MONDO:0016792 obsolete mitochondrial oxidative phosphorylation disorder due to a large-scale single deletion of mitochondrial DNA MONDO:0016791 Orphanet:254767 Orphanet:254758 obsolete mitochondrial oxidative phosphorylation disorder due to mitochondrial DNA anomalies -MONDO:0016793 obsolete mitochondrial oxidative phosphorylation disorder due to a point mutation of mitochondrial DNA MONDO:0016791 Orphanet:254776 Orphanet:254758 obsolete mitochondrial oxidative phosphorylation disorder due to mitochondrial DNA anomalies -MONDO:0016794 obsolete maternally-inherited mitochondrial myopathy MONDO:0016793 Orphanet:254788 Orphanet:254776 obsolete mitochondrial oxidative phosphorylation disorder due to a point mutation of mitochondrial DNA -MONDO:0016796 mitochondrial DNA depletion syndrome, encephalomyopathic form MONDO:0019058 Orphanet:254803 Orphanet:68385 obsolete neurometabolic disease -MONDO:0016797 obsolete multiple mitochondrial DNA deletion syndrome MONDO:0018121 Orphanet:254807 Orphanet:352456 mitochondrial DNA maintenance syndrome -MONDO:0016798 ataxia neuropathy spectrum MONDO:0016797 Orphanet:254818 Orphanet:254807 obsolete multiple mitochondrial DNA deletion syndrome -MONDO:0016799 obsolete mitochondrial oxidative phosphorylation disorder with no known mechanism MONDO:0016578 Orphanet:254822 Orphanet:2443 obsolete mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies -MONDO:0016803 obsolete unspecified inborn mitochondrial disorder MONDO:0004069 Orphanet:254837 Orphanet:68380 inborn mitochondrial metabolism disorder -MONDO:0016804 obsolete exercise intolerance with lactic acidosis MONDO:0017718 Orphanet:254843 Orphanet:309136 obsolete mitochondrial disorder due to a defect in assembly or maturation of the respiratory chain complexes -MONDO:0016805 obsolete isolated oxidative phosphorylation complex disorder MONDO:0016387 Orphanet:254846 Orphanet:223713 mitochondrial oxidative phosphorylation disorder -MONDO:0016806 maternally-inherited mitochondrial dystonia MONDO:0016793 Orphanet:254851 Orphanet:254776 obsolete mitochondrial oxidative phosphorylation disorder due to a point mutation of mitochondrial DNA -MONDO:0016807 pure mitochondrial myopathy MONDO:0016794 Orphanet:254854 Orphanet:254788 obsolete maternally-inherited mitochondrial myopathy -MONDO:0016810 autosomal recessive progressive external ophthalmoplegia MONDO:0016797 Orphanet:254886 Orphanet:254807 obsolete multiple mitochondrial DNA deletion syndrome -MONDO:0016810 autosomal recessive progressive external ophthalmoplegia MONDO:0019058 Orphanet:254886 Orphanet:68385 obsolete neurometabolic disease -MONDO:0016811 renal tubulopathy-encephalopathy-liver failure syndrome MONDO:0015115 Orphanet:254902 Orphanet:101940 obsolete rare genetic metabolic liver disease -MONDO:0016811 renal tubulopathy-encephalopathy-liver failure syndrome MONDO:0017718 Orphanet:254902 Orphanet:309136 obsolete mitochondrial disorder due to a defect in assembly or maturation of the respiratory chain complexes -MONDO:0016812 dopa-responsive dystonia MONDO:0017756 Orphanet:255 Orphanet:309819 obsolete disorder of pterin metabolism -MONDO:0016812 dopa-responsive dystonia MONDO:0018329 Orphanet:255 Orphanet:391711 obsolete persistent combined dystonia -MONDO:0016814 maternally-inherited Leigh syndrome MONDO:0016793 Orphanet:255210 Orphanet:254776 obsolete mitochondrial oxidative phosphorylation disorder due to a point mutation of mitochondrial DNA -MONDO:0016814 maternally-inherited Leigh syndrome MONDO:0019058 Orphanet:255210 Orphanet:68385 obsolete neurometabolic disease -MONDO:0016817 Meier-Gorlin syndrome MONDO:0015334 Orphanet:2554 Orphanet:139036 obsolete branchial arch or oral-acral syndrome -MONDO:0016817 Meier-Gorlin syndrome MONDO:0017950 Orphanet:2554 Orphanet:324761 obsolete microcephalic primordial dwarfism -MONDO:0016817 Meier-Gorlin syndrome MONDO:0019699 Orphanet:2554 Orphanet:93440 obsolete slender bone dysplasia -MONDO:0016817 Meier-Gorlin syndrome MONDO:0019712 Orphanet:2554 Orphanet:93455 obsolete patellar dysostosis -MONDO:0016817 Meier-Gorlin syndrome MONDO:0026189 Orphanet:2554 Orphanet:183576 obsolete genetic branchial arch or oral-acral syndrome -MONDO:0016817 Meier-Gorlin syndrome MONDO:8000032 Orphanet:2554 Orphanet:377789 obsolete malformation syndrome -MONDO:0016818 Mikati-Najjar-Sahli syndrome MONDO:0015906 Orphanet:2558 Orphanet:181441 obsolete rare disorder with hypergonadotropic hypogonadism -MONDO:0016818 Mikati-Najjar-Sahli syndrome MONDO:8000032 Orphanet:2558 Orphanet:377789 obsolete malformation syndrome -MONDO:0016819 Moebius syndrome-axonal neuropathy-hypogonadotropic hypogonadism syndrome MONDO:0015890 Orphanet:2560 Orphanet:181387 obsolete rare disorder with congenital hypogonadotropic hypogonadism -MONDO:0016819 Moebius syndrome-axonal neuropathy-hypogonadotropic hypogonadism syndrome MONDO:8000032 Orphanet:2560 Orphanet:377789 obsolete malformation syndrome -MONDO:0016820 Moyamoya disease MONDO:0018791 Orphanet:2573 Orphanet:477768 obsolete Moyomoya angiopathy -MONDO:0016820 Moyamoya disease MONDO:0035862 Orphanet:2573 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome -MONDO:0016822 myalgia-eosinophilia syndrome associated with tryptophan MONDO:8000032 Orphanet:2582 Orphanet:377789 obsolete malformation syndrome -MONDO:0016823 mycetoma MONDO:0015575 Orphanet:2583 Orphanet:163582 obsolete rare bacterial infectious disease -MONDO:0016823 mycetoma MONDO:0015578 Orphanet:2583 Orphanet:163591 obsolete rare mycosis -MONDO:0016824 infantile myofibromatosis MONDO:0015950 Orphanet:2591 Orphanet:183487 obsolete inherited skin tumor -MONDO:0016824 infantile myofibromatosis MONDO:0016123 Orphanet:2591 Orphanet:206982 obsolete muscular tumor -MONDO:0016824 infantile myofibromatosis MONDO:0017127 Orphanet:2591 Orphanet:271832 obsolete inherited soft tissue tumor -MONDO:0016824 infantile myofibromatosis MONDO:0019099 Orphanet:2591 Orphanet:71209 obsolete rare soft tissue tumor -MONDO:0016824 infantile myofibromatosis MONDO:0019300 Orphanet:2591 Orphanet:79386 obsolete rare skin tumor or hamartoma -MONDO:0016825 mitochondrial myopathy-lactic acidosis-deafness syndrome MONDO:0016803 Orphanet:2597 Orphanet:254837 obsolete unspecified inborn mitochondrial disorder -MONDO:0016825 mitochondrial myopathy-lactic acidosis-deafness syndrome MONDO:0019589 Orphanet:2597 Orphanet:90642 obsolete syndromic genetic hearing loss -MONDO:0016826 methylmalonic aciduria and homocystinuria MONDO:0020109 Orphanet:26 Orphanet:98396 obsolete constitutional megaloblastic anemia due to vitamin B12 metabolism disorder -MONDO:0016826 methylmalonic aciduria and homocystinuria MONDO:0035862 Orphanet:26 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome -MONDO:0016829 familial visceral myopathy MONDO:0015184 Orphanet:2604 Orphanet:104009 obsolete rare disease involving intestinal motility -MONDO:0016830 Emery-Dreifuss muscular dystrophy MONDO:0016334 Orphanet:261 Orphanet:217610 obsolete neuromuscular disease with dilated cardiomyopathy -MONDO:0016830 Emery-Dreifuss muscular dystrophy MONDO:0035862 Orphanet:261 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome -MONDO:0016831 linear verrucous nevus syndrome MONDO:0017414 Orphanet:2611 Orphanet:294057 obsolete rare nevus -MONDO:0016832 distal 7q11.23 microduplication syndrome MONDO:8000032 Orphanet:261102 Orphanet:377789 obsolete malformation syndrome -MONDO:0016833 14q12 microdeletion syndrome MONDO:8000031 Orphanet:261144 Orphanet:557494 obsolete subtype of a disorder -MONDO:0016834 16p11.2p12.2 microduplication syndrome MONDO:8000032 Orphanet:261204 Orphanet:377789 obsolete malformation syndrome -MONDO:0016835 14q11.2 microduplication syndrome MONDO:8000032 Orphanet:261229 Orphanet:377789 obsolete malformation syndrome -MONDO:0016836 16p13.11 microdeletion syndrome MONDO:8000032 Orphanet:261236 Orphanet:377789 obsolete malformation syndrome -MONDO:0016837 16p13.11 microduplication syndrome MONDO:8000032 Orphanet:261243 Orphanet:377789 obsolete malformation syndrome -MONDO:0016838 16q24.3 microdeletion syndrome MONDO:8000032 Orphanet:261250 Orphanet:377789 obsolete malformation syndrome -MONDO:0016839 distal 17p13.3 microdeletion syndrome MONDO:8000032 Orphanet:261257 Orphanet:377789 obsolete malformation syndrome -MONDO:0016840 trisomy 17p MONDO:8000032 Orphanet:261290 Orphanet:377789 obsolete malformation syndrome -MONDO:0016841 20p12.3 microdeletion syndrome MONDO:8000032 Orphanet:261295 Orphanet:377789 obsolete malformation syndrome -MONDO:0016842 paternal 20q13.2q13.3 microdeletion syndrome MONDO:8000032 Orphanet:261304 Orphanet:377789 obsolete malformation syndrome -MONDO:0016843 20q13.33 microdeletion syndrome MONDO:8000032 Orphanet:261311 Orphanet:377789 obsolete malformation syndrome -MONDO:0016844 trisomy 20p MONDO:8000032 Orphanet:261318 Orphanet:377789 obsolete malformation syndrome -MONDO:0016845 21q22.11q22.12 microdeletion syndrome MONDO:0024147 Orphanet:261323 Orphanet:138047 obsolete Pierre Robin syndrome associated with a chromosomal anomaly -MONDO:0016845 21q22.11q22.12 microdeletion syndrome MONDO:0035863 Orphanet:261323 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0016845 21q22.11q22.12 microdeletion syndrome MONDO:8000032 Orphanet:261323 Orphanet:377789 obsolete malformation syndrome -MONDO:0016846 distal 22q11.2 microduplication syndrome MONDO:8000032 Orphanet:261337 Orphanet:377789 obsolete malformation syndrome -MONDO:0016847 trisomy 1q MONDO:8000032 Orphanet:261344 Orphanet:377789 obsolete malformation syndrome -MONDO:0016848 juvenile temporal arteritis MONDO:0015488 Orphanet:26137 Orphanet:156140 obsolete predominantly large-vessel vasculitis -MONDO:0016850 atypical Norrie disease due to monosomy Xp11.3 MONDO:8000032 Orphanet:261501 Orphanet:377789 obsolete malformation syndrome -MONDO:0016851 maternal uniparental disomy of chromosome X MONDO:0017011 Orphanet:261519 Orphanet:263793 obsolete uniparental disomy of chromosome X -MONDO:0016851 maternal uniparental disomy of chromosome X MONDO:8000032 Orphanet:261519 Orphanet:377789 obsolete malformation syndrome -MONDO:0016852 paternal uniparental disomy of chromosome X MONDO:0017011 Orphanet:261524 Orphanet:263793 obsolete uniparental disomy of chromosome X -MONDO:0016852 paternal uniparental disomy of chromosome X MONDO:8000032 Orphanet:261524 Orphanet:377789 obsolete malformation syndrome -MONDO:0016853 ring chromosome Y MONDO:0020061 Orphanet:261529 Orphanet:98158 obsolete chromosome Y structural anomaly -MONDO:0016853 ring chromosome Y MONDO:8000032 Orphanet:261529 Orphanet:377789 obsolete malformation syndrome -MONDO:0016854 49,XXXYY syndrome MONDO:0017006 Orphanet:261534 Orphanet:263749 obsolete X and Y chromosomal anomaly -MONDO:0016854 49,XXXYY syndrome MONDO:8000032 Orphanet:261534 Orphanet:377789 obsolete malformation syndrome -MONDO:0016855 Mowat-Wilson syndrome due to monosomy 2q22 MONDO:0015652 Orphanet:261537 Orphanet:166469 obsolete chromosomal anomaly with epilepsy as a major feature -MONDO:0016855 Mowat-Wilson syndrome due to monosomy 2q22 MONDO:8000031 Orphanet:261537 Orphanet:557494 obsolete subtype of a disorder -MONDO:0016856 Mowat-Wilson syndrome due to a ZEB2 point mutation MONDO:8000031 Orphanet:261552 Orphanet:557494 obsolete subtype of a disorder -MONDO:0016860 familial adenomatous polyposis due to 5q22.2 microdeletion MONDO:8000031 Orphanet:261584 Orphanet:557494 obsolete subtype of a disorder -MONDO:0016861 Alagille syndrome due to 20p12 microdeletion MONDO:8000031 Orphanet:261600 Orphanet:557494 obsolete subtype of a disorder -MONDO:0016862 Alagille syndrome due to a JAG1 point mutation MONDO:8000031 Orphanet:261619 Orphanet:557494 obsolete subtype of a disorder -MONDO:0016863 Okihiro syndrome due to 20q13 microdeletion MONDO:8000031 Orphanet:261638 Orphanet:557494 obsolete subtype of a disorder -MONDO:0016864 Okihiro syndrome due to a point mutation MONDO:8000031 Orphanet:261647 Orphanet:557494 obsolete subtype of a disorder -MONDO:0016865 Kleefstra syndrome due to a point mutation MONDO:8000031 Orphanet:261652 Orphanet:557494 obsolete subtype of a disorder -MONDO:0016866 partial deletion of chromosome 1 MONDO:0020054 Orphanet:261766 Orphanet:98142 obsolete partial autosomal monosomy -MONDO:0016867 partial deletion of chromosome 2 MONDO:0020054 Orphanet:261771 Orphanet:98142 obsolete partial autosomal monosomy -MONDO:0016868 partial deletion of chromosome 3 MONDO:0020054 Orphanet:261776 Orphanet:98142 obsolete partial autosomal monosomy -MONDO:0016869 partial deletion of chromosome 4 MONDO:0020054 Orphanet:261781 Orphanet:98142 obsolete partial autosomal monosomy -MONDO:0016870 partial deletion of chromosome 5 MONDO:0020054 Orphanet:261786 Orphanet:98142 obsolete partial autosomal monosomy -MONDO:0016871 partial deletion of chromosome 6 MONDO:0020054 Orphanet:261791 Orphanet:98142 obsolete partial autosomal monosomy -MONDO:0016872 partial deletion of chromosome 7 MONDO:0020054 Orphanet:261796 Orphanet:98142 obsolete partial autosomal monosomy -MONDO:0016873 partial deletion of chromosome 8 MONDO:0020054 Orphanet:261801 Orphanet:98142 obsolete partial autosomal monosomy -MONDO:0016874 partial deletion of chromosome 9 MONDO:0020054 Orphanet:261806 Orphanet:98142 obsolete partial autosomal monosomy -MONDO:0016875 partial deletion of chromosome 10 MONDO:0020054 Orphanet:261811 Orphanet:98142 obsolete partial autosomal monosomy -MONDO:0016876 partial deletion of chromosome 11 MONDO:0020054 Orphanet:261816 Orphanet:98142 obsolete partial autosomal monosomy -MONDO:0016878 partial deletion of chromosome 16 MONDO:0020054 Orphanet:261826 Orphanet:98142 obsolete partial autosomal monosomy -MONDO:0016879 partial deletion of chromosome 17 MONDO:0020054 Orphanet:261831 Orphanet:98142 obsolete partial autosomal monosomy -MONDO:0016880 partial deletion of chromosome 18 MONDO:0020054 Orphanet:261836 Orphanet:98142 obsolete partial autosomal monosomy -MONDO:0016881 partial deletion of chromosome 19 MONDO:0020054 Orphanet:261841 Orphanet:98142 obsolete partial autosomal monosomy -MONDO:0016882 partial deletion of chromosome 20 MONDO:0020054 Orphanet:261846 Orphanet:98142 obsolete partial autosomal monosomy -MONDO:0016891 obsolete partial deletion of the short arm of chromosome 9 MONDO:0016874 Orphanet:261929 Orphanet:261806 partial deletion of chromosome 9 -MONDO:0016899 obsolete Duchenne and Becker muscular dystrophy MONDO:0016106 Orphanet:262 Orphanet:206644 progressive muscular dystrophy -MONDO:0016899 obsolete Duchenne and Becker muscular dystrophy MONDO:0016334 Orphanet:262 Orphanet:217610 obsolete neuromuscular disease with dilated cardiomyopathy -MONDO:0016911 partial deletion of the long arm of chromosome 13 MONDO:0020054 Orphanet:262101 Orphanet:98142 obsolete partial autosomal monosomy -MONDO:0016912 partial deletion of the long arm of chromosome 14 MONDO:0020054 Orphanet:262110 Orphanet:98142 obsolete partial autosomal monosomy -MONDO:0016913 partial deletion of the long arm of chromosome 15 MONDO:0020054 Orphanet:262119 Orphanet:98142 obsolete partial autosomal monosomy -MONDO:0016919 partial deletion of the long arm of chromosome 21 MONDO:0020054 Orphanet:262173 Orphanet:98142 obsolete partial autosomal monosomy -MONDO:0016921 partial duplication of chromosome 1 MONDO:0020052 Orphanet:262191 Orphanet:98132 obsolete partial autosomal trisomy/tetrasomy -MONDO:0016922 partial duplication of chromosome 2 MONDO:0020052 Orphanet:262196 Orphanet:98132 obsolete partial autosomal trisomy/tetrasomy -MONDO:0016923 partial duplication of chromosome 3 MONDO:0020052 Orphanet:262201 Orphanet:98132 obsolete partial autosomal trisomy/tetrasomy -MONDO:0016924 partial duplication of chromosome 4 MONDO:0020052 Orphanet:262206 Orphanet:98132 obsolete partial autosomal trisomy/tetrasomy -MONDO:0016925 partial trisomy/tetrasomy of chromosome 5 MONDO:0020052 Orphanet:262211 Orphanet:98132 obsolete partial autosomal trisomy/tetrasomy -MONDO:0016927 partial duplication of chromosome 6 MONDO:0020052 Orphanet:262628 Orphanet:98132 obsolete partial autosomal trisomy/tetrasomy -MONDO:0016928 partial duplication of chromosome 7 MONDO:0020052 Orphanet:262633 Orphanet:98132 obsolete partial autosomal trisomy/tetrasomy -MONDO:0016929 partial duplication of chromosome 8 MONDO:0020052 Orphanet:262638 Orphanet:98132 obsolete partial autosomal trisomy/tetrasomy -MONDO:0016930 partial trisomy/tetrasomy of chromosome 9 MONDO:0020052 Orphanet:262643 Orphanet:98132 obsolete partial autosomal trisomy/tetrasomy -MONDO:0016931 partial duplication of chromosome 10 MONDO:0020052 Orphanet:262648 Orphanet:98132 obsolete partial autosomal trisomy/tetrasomy -MONDO:0016932 partial duplication of chromosome 11 MONDO:0020052 Orphanet:262653 Orphanet:98132 obsolete partial autosomal trisomy/tetrasomy -MONDO:0016933 partial trisomy/tetrasomy of the short arm of chromosome 12 MONDO:0020052 Orphanet:262658 Orphanet:98132 obsolete partial autosomal trisomy/tetrasomy -MONDO:0016934 partial duplication of chromosome 16 MONDO:0020052 Orphanet:262672 Orphanet:98132 obsolete partial autosomal trisomy/tetrasomy -MONDO:0016935 partial duplication of chromosome 17 MONDO:0020052 Orphanet:262677 Orphanet:98132 obsolete partial autosomal trisomy/tetrasomy -MONDO:0016936 partial trisomy/tetrasomy of chromosome 18 MONDO:0020052 Orphanet:262682 Orphanet:98132 obsolete partial autosomal trisomy/tetrasomy -MONDO:0016937 partial duplication of chromosome 19 MONDO:0020052 Orphanet:262687 Orphanet:98132 obsolete partial autosomal trisomy/tetrasomy -MONDO:0016938 partial trisomy of chromosome 20 MONDO:0020052 Orphanet:262692 Orphanet:98132 obsolete partial autosomal trisomy/tetrasomy -MONDO:0016964 partial duplication of the long arm of chromosome 14 MONDO:0020052 Orphanet:262941 Orphanet:98132 obsolete partial autosomal trisomy/tetrasomy -MONDO:0016965 partial duplication of the long arm of chromosome 15 MONDO:0020052 Orphanet:262950 Orphanet:98132 obsolete partial autosomal trisomy/tetrasomy -MONDO:0016972 partial duplication of the long arm of chromosome 22 MONDO:0020052 Orphanet:263004 Orphanet:98132 obsolete partial autosomal trisomy/tetrasomy -MONDO:0016974 thymoma type B MONDO:8000031 Orphanet:263317 Orphanet:557494 obsolete subtype of a disorder -MONDO:0016975 thymoma type AB MONDO:8000031 Orphanet:263324 Orphanet:557494 obsolete subtype of a disorder -MONDO:0016976 well-differentiated thymic neuroendocrine carcinoma MONDO:8000031 Orphanet:263331 Orphanet:557494 obsolete subtype of a disorder -MONDO:0016977 moderately-differentiated thymic neuroendocrine carcinoma MONDO:8000031 Orphanet:263335 Orphanet:557494 obsolete subtype of a disorder -MONDO:0016978 poorly differentiated thymic neuroendocrine carcinoma MONDO:8000031 Orphanet:263339 Orphanet:557494 obsolete subtype of a disorder -MONDO:0016979 MRCS syndrome MONDO:0020225 Orphanet:263347 Orphanet:98641 obsolete syndromic cataract -MONDO:0016979 MRCS syndrome MONDO:0020240 Orphanet:263347 Orphanet:98661 obsolete syndromic retinitis pigmentosa -MONDO:0016981 infantile spams-psychomotor retardation-progressive brain atrophy-basal ganglia disease syndrome MONDO:0035862 Orphanet:263410 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome -MONDO:0016982 angiosarcoma MONDO:0016228 Orphanet:263413 Orphanet:211237 obsolete rare vascular tumor -MONDO:0016984 nevus of Ota MONDO:0017414 Orphanet:263425 Orphanet:294057 obsolete rare nevus -MONDO:0016985 nevus of Ito MONDO:0017414 Orphanet:263432 Orphanet:294057 obsolete rare nevus -MONDO:0016986 congenital smooth muscle hamartoma MONDO:0019300 Orphanet:263435 Orphanet:79386 obsolete rare skin tumor or hamartoma -MONDO:0016987 neuroacanthocytosis MONDO:0017641 Orphanet:263440 Orphanet:306695 obsolete miscellaneous movement disorder due to neurodegenerative disease -MONDO:0016987 neuroacanthocytosis MONDO:0017662 Orphanet:263440 Orphanet:307058 obsolete miscellaneous movement disorder due to genetic neurodegenerative disease -MONDO:0016987 neuroacanthocytosis MONDO:0020136 Orphanet:263440 Orphanet:98534 obsolete neurodegenerative disease with dementia -MONDO:0016987 neuroacanthocytosis MONDO:0021037 Orphanet:263440 Orphanet:276058 obsolete genetic neurodegenerative disease with dementia -MONDO:0016990 acquired prothrombin deficiency MONDO:0015662 Orphanet:26348 Orphanet:166775 obsolete hemorrhagic disorder due to an acquired coagulation factor defect -MONDO:0016994 microcephalic osteodysplastic primordial dwarfism types I and III MONDO:0017950 Orphanet:2636 Orphanet:324761 obsolete microcephalic primordial dwarfism -MONDO:0016994 microcephalic osteodysplastic primordial dwarfism types I and III MONDO:0019699 Orphanet:2636 Orphanet:93440 obsolete slender bone dysplasia -MONDO:0016994 microcephalic osteodysplastic primordial dwarfism types I and III MONDO:0020222 Orphanet:2636 Orphanet:98638 obsolete rare disease with glaucoma as a major feature -MONDO:0016994 microcephalic osteodysplastic primordial dwarfism types I and III MONDO:8000032 Orphanet:2636 Orphanet:377789 obsolete malformation syndrome -MONDO:0016996 NK-cell enteropathy MONDO:0019997 Orphanet:263665 Orphanet:97935 obsolete rare gastroenterologic disease -MONDO:0016998 obsolete complex chromosomal rearrangement MONDO:0020049 Orphanet:263708 Orphanet:98127 autosomal anomaly -MONDO:0016999 obsolete X chromosome number anomaly MONDO:0020059 Orphanet:263714 Orphanet:98156 obsolete gonosome number anomaly -MONDO:0017000 obsolete X chromosome number anomaly with female phenotype MONDO:0016999 Orphanet:263717 Orphanet:263714 obsolete X chromosome number anomaly -MONDO:0017001 obsolete X chromosome number anomaly with male phenotype MONDO:0016999 Orphanet:263720 Orphanet:263714 obsolete X chromosome number anomaly -MONDO:0017002 obsolete polysomy of X chromosome MONDO:0017000 Orphanet:263723 Orphanet:263717 obsolete X chromosome number anomaly with female phenotype -MONDO:0017003 partial deletion of chromosome X MONDO:0020062 Orphanet:263726 Orphanet:98159 obsolete chromosome X structural anomaly -MONDO:0017005 obsolete Y chromosome number anomaly MONDO:0020059 Orphanet:263746 Orphanet:98156 obsolete gonosome number anomaly -MONDO:0017006 obsolete X and Y chromosomal anomaly MONDO:0020059 Orphanet:263749 Orphanet:98156 obsolete gonosome number anomaly -MONDO:0017008 partial duplication of chromosome X MONDO:0020062 Orphanet:263768 Orphanet:98159 obsolete chromosome X structural anomaly -MONDO:0017011 obsolete uniparental disomy of chromosome X MONDO:0020062 Orphanet:263793 Orphanet:98159 obsolete chromosome X structural anomaly -MONDO:0017013 trisomy 8p MONDO:8000032 Orphanet:264450 Orphanet:377789 obsolete malformation syndrome -MONDO:0017016 obsolete primary interstitial lung disease specific to childhood due to alveolar structure disorder MONDO:0017015 Orphanet:264670 Orphanet:264665 primary interstitial lung disease specific to childhood -MONDO:0017017 obsolete primary interstitial lung disease specific to childhood due to alveolar vascular disorder MONDO:0017015 Orphanet:264683 Orphanet:264665 primary interstitial lung disease specific to childhood -MONDO:0017018 isolated pulmonary capillaritis MONDO:0017017 Orphanet:264691 Orphanet:264683 obsolete primary interstitial lung disease specific to childhood due to alveolar vascular disorder -MONDO:0017020 obsolete secondary interstitial lung disease specific to childhood associated with a systemic disease MONDO:0017014 Orphanet:264699 Orphanet:264656 interstitial lung disease specific to childhood -MONDO:0017021 obsolete secondary interstitial lung disease specific to childhood associated with a connective tissue disease MONDO:0017020 Orphanet:264704 Orphanet:264699 obsolete secondary interstitial lung disease specific to childhood associated with a systemic disease -MONDO:0017022 obsolete secondary interstitial lung disease specific to childhood associated with a systemic vasculitis MONDO:0017020 Orphanet:264709 Orphanet:264699 obsolete secondary interstitial lung disease specific to childhood associated with a systemic disease -MONDO:0017023 obsolete secondary interstitial lung disease specific to childhood associated with a granulomatous disease MONDO:0017020 Orphanet:264714 Orphanet:264699 obsolete secondary interstitial lung disease specific to childhood associated with a systemic disease -MONDO:0017024 obsolete secondary interstitial lung disease specific to childhood associated with a metabolic disease MONDO:0017020 Orphanet:264719 Orphanet:264699 obsolete secondary interstitial lung disease specific to childhood associated with a systemic disease -MONDO:0017027 obsolete primary interstitial lung disease specific to adulthood MONDO:0017026 Orphanet:264740 Orphanet:264735 interstitial lung disease specific to adulthood -MONDO:0017028 obsolete secondary interstitial lung disease specific to adulthood associated with a systemic disease MONDO:0017026 Orphanet:264745 Orphanet:264735 interstitial lung disease specific to adulthood -MONDO:0017030 obsolete interstitial lung disease in childhood and adulthood MONDO:0015925 Orphanet:264757 Orphanet:182095 interstitial lung disease -MONDO:0017031 obsolete primary interstitial lung disease in childhood and adulthood MONDO:0017030 Orphanet:264762 Orphanet:264757 obsolete interstitial lung disease in childhood and adulthood -MONDO:0017032 obsolete primary interstitial lung disease in childhood and adulthood due to alveolar structure disorder MONDO:0017031 Orphanet:264930 Orphanet:264762 obsolete primary interstitial lung disease in childhood and adulthood -MONDO:0017033 obsolete primary interstitial lung disease in childhood and adulthood due to alveolar vascular disorder MONDO:0017031 Orphanet:264935 Orphanet:264762 obsolete primary interstitial lung disease in childhood and adulthood -MONDO:0017034 obsolete secondary interstitial lung disease in childhood and adulthood MONDO:0017030 Orphanet:264944 Orphanet:264757 obsolete interstitial lung disease in childhood and adulthood -MONDO:0017035 obsolete secondary interstitial lung disease in childhood and adulthood associated with a systemic disease MONDO:0017034 Orphanet:264949 Orphanet:264944 obsolete secondary interstitial lung disease in childhood and adulthood -MONDO:0017037 obsolete secondary interstitial lung disease in childhood and adulthood associated with a metabolic disease MONDO:0017035 Orphanet:264968 Orphanet:264949 obsolete secondary interstitial lung disease in childhood and adulthood associated with a systemic disease -MONDO:0017038 obsolete secondary interstitial lung disease in childhood and adulthood associated with a systemic vasculitis MONDO:0017035 Orphanet:264973 Orphanet:264949 obsolete secondary interstitial lung disease in childhood and adulthood associated with a systemic disease -MONDO:0017039 drug or radiation exposure-related interstitial lung disease MONDO:0017040 Orphanet:264978 Orphanet:264984 obsolete exposure-related interstitial lung disease -MONDO:0017039 drug or radiation exposure-related interstitial lung disease MONDO:0032014 Orphanet:264978 Orphanet:377793 obsolete particular clinical situation in a disease or syndrome -MONDO:0017040 obsolete exposure-related interstitial lung disease MONDO:0017034 Orphanet:264984 Orphanet:264944 obsolete secondary interstitial lung disease in childhood and adulthood -MONDO:0017041 osteochondrodysplatic nanism-deafness-retinitis pigmentosa syndrome MONDO:0019589 Orphanet:2653 Orphanet:90642 obsolete syndromic genetic hearing loss -MONDO:0017041 osteochondrodysplatic nanism-deafness-retinitis pigmentosa syndrome MONDO:0020240 Orphanet:2653 Orphanet:98661 obsolete syndromic retinitis pigmentosa -MONDO:0017041 osteochondrodysplatic nanism-deafness-retinitis pigmentosa syndrome MONDO:8000032 Orphanet:2653 Orphanet:377789 obsolete malformation syndrome -MONDO:0017042 thanatophoric dysplasia MONDO:0018232 Orphanet:2655 Orphanet:364536 obsolete primary bone dysplasia with micromelia -MONDO:0017043 congenital mesoblastic nephroma MONDO:0019749 Orphanet:2665 Orphanet:93619 obsolete rare renal tumor -MONDO:0017044 adult familial nephronophthisis-spastic quadriparesia syndrome MONDO:0022409 Orphanet:2666 Orphanet:156162 obsolete nephropathy-associated ciliopathy -MONDO:0017048 pseudomyxoma peritonei MONDO:0015682 Orphanet:26790 Orphanet:168803 obsolete primary peritoneal tumor -MONDO:0017049 obsolete hypomyelination neuropathy-arthrogryposis syndrome MONDO:0015168 Orphanet:2680 Orphanet:1037 arthrogryposis multiplex congenita -MONDO:0017049 obsolete hypomyelination neuropathy-arthrogryposis syndrome MONDO:8000032 Orphanet:2680 Orphanet:377789 obsolete malformation syndrome -MONDO:0017050 intraocular medulloepithelioma MONDO:0015121 Orphanet:268139 Orphanet:101950 obsolete rare eye tumor -MONDO:0017051 classic maple syrup urine disease MONDO:8000031 Orphanet:268145 Orphanet:557494 obsolete subtype of a disorder -MONDO:0017052 intermediate maple syrup urine disease MONDO:8000031 Orphanet:268162 Orphanet:557494 obsolete subtype of a disorder -MONDO:0017053 intermittent maple syrup urine disease MONDO:8000031 Orphanet:268173 Orphanet:557494 obsolete subtype of a disorder -MONDO:0017054 thiamine-responsive maple syrup urine disease MONDO:8000031 Orphanet:268184 Orphanet:557494 obsolete subtype of a disorder -MONDO:0017055 mycophenolate mofetil embryopathy MONDO:8000032 Orphanet:268249 Orphanet:377789 obsolete malformation syndrome -MONDO:0017056 DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion MONDO:8000031 Orphanet:268261 Orphanet:557494 obsolete subtype of a disorder +MONDO:0016815 obsolete Leigh syndrome with leukodystrophy MONDO:0000001 Orphanet:255241 Orphanet:377788 disease +MONDO:0016816 obsolete Leigh syndrome with nephrotic syndrome MONDO:0000001 Orphanet:255249 Orphanet:377788 disease MONDO:0017057 obsolete hereditary thrombocytopenia with normal platelets MONDO:0000001 Orphanet:268322 Orphanet:377788 disease -MONDO:0017057 obsolete hereditary thrombocytopenia with normal platelets MONDO:0018796 Orphanet:268322 Orphanet:477797 obsolete isolated constitutional thrombocytopenia -MONDO:0017059 obsolete neural tube closure defect MONDO:0018075 Orphanet:268357 Orphanet:3388 neural tube defect -MONDO:0017060 open iniencephaly MONDO:8000031 Orphanet:268363 Orphanet:557494 obsolete subtype of a disorder -MONDO:0017061 closed iniencephaly MONDO:8000031 Orphanet:268366 Orphanet:557494 obsolete subtype of a disorder -MONDO:0017076 posterior meningocele MONDO:8000030 Orphanet:268810 Orphanet:377791 obsolete morphological anomaly -MONDO:0017078 cephalocele MONDO:0017085 Orphanet:268817 Orphanet:268843 obsolete malformation of the neurenteric canal, spinal cord and column -MONDO:0017079 meningoencephalocele MONDO:8000030 Orphanet:268820 Orphanet:377791 obsolete morphological anomaly -MONDO:0017080 occipital encephalocele MONDO:8000031 Orphanet:268823 Orphanet:557494 obsolete subtype of a disorder -MONDO:0017081 parietal encephalocele MONDO:8000031 Orphanet:268826 Orphanet:557494 obsolete subtype of a disorder -MONDO:0017082 basal encephalocele MONDO:8000031 Orphanet:268829 Orphanet:557494 obsolete subtype of a disorder -MONDO:0017085 obsolete malformation of the neurenteric canal, spinal cord and column MONDO:0018075 Orphanet:268843 Orphanet:3388 neural tube defect -MONDO:0017086 primary tethered cord syndrome MONDO:0017085 Orphanet:268861 Orphanet:268843 obsolete malformation of the neurenteric canal, spinal cord and column -MONDO:0017086 primary tethered cord syndrome MONDO:8000030 Orphanet:268861 Orphanet:377791 obsolete morphological anomaly -MONDO:0017087 neurenteric cyst MONDO:0017085 Orphanet:268865 Orphanet:268843 obsolete malformation of the neurenteric canal, spinal cord and column -MONDO:0017087 neurenteric cyst MONDO:8000030 Orphanet:268865 Orphanet:377791 obsolete morphological anomaly -MONDO:0017088 isolated amyelia MONDO:0017085 Orphanet:268868 Orphanet:268843 obsolete malformation of the neurenteric canal, spinal cord and column -MONDO:0017088 isolated amyelia MONDO:8000030 Orphanet:268868 Orphanet:377791 obsolete morphological anomaly -MONDO:0017089 isolated megalencephaly MONDO:8000031 Orphanet:268920 Orphanet:557494 obsolete subtype of a disorder -MONDO:0017090 obsolete midline cerebral malformation MONDO:0016054 Orphanet:268926 Orphanet:199633 obsolete cerebral malformation -MONDO:0017090 obsolete midline cerebral malformation MONDO:0957008 Orphanet:268926 Orphanet:269553 hereditary cerebral malformation -MONDO:0017091 bilateral polymicrogyria MONDO:8000030 Orphanet:268940 Orphanet:377791 obsolete morphological anomaly -MONDO:0017092 unilateral polymicrogyria MONDO:8000030 Orphanet:268943 Orphanet:377791 obsolete morphological anomaly -MONDO:0017093 unilateral focal polymicrogyria MONDO:8000031 Orphanet:268947 Orphanet:557494 obsolete subtype of a disorder -MONDO:0017094 cerebral cortical dysplasia MONDO:0015572 Orphanet:268950 Orphanet:163209 obsolete cerebral malformation due to abnormal neuronal migration -MONDO:0017095 isolated focal cortical dysplasia type I MONDO:8000031 Orphanet:268961 Orphanet:557494 obsolete subtype of a disorder -MONDO:0017100 neutropenia-monocytopenia-deafness syndrome MONDO:0018032 Orphanet:2690 Orphanet:331184 obsolete constitutional neutropenia with extra-hematopoietic manifestations -MONDO:0017100 neutropenia-monocytopenia-deafness syndrome MONDO:0019589 Orphanet:2690 Orphanet:90642 obsolete syndromic genetic hearing loss -MONDO:0017103 encephaloclastic disorder MONDO:0016054 Orphanet:269190 Orphanet:199633 obsolete cerebral malformation -MONDO:0017104 obsolete central nervous system cystic malformation MONDO:0015219 Orphanet:269194 Orphanet:108989 obsolete non-syndromic central nervous system malformation -MONDO:0017105 glioependymal/ependymal cyst MONDO:0017104 Orphanet:269197 Orphanet:269194 obsolete central nervous system cystic malformation -MONDO:0017105 glioependymal/ependymal cyst MONDO:8000030 Orphanet:269197 Orphanet:377791 obsolete morphological anomaly -MONDO:0017107 isolated cerebellar vermis agenesis MONDO:0020130 Orphanet:269203 Orphanet:98514 obsolete malformation of the cerebellar vermis -MONDO:0017107 isolated cerebellar vermis agenesis MONDO:8000030 Orphanet:269203 Orphanet:377791 obsolete morphological anomaly -MONDO:0017108 isolated total cerebellar vermis agenesis MONDO:8000031 Orphanet:269206 Orphanet:557494 obsolete subtype of a disorder -MONDO:0017109 isolated partial cerebellar vermis agenesis MONDO:8000031 Orphanet:269209 Orphanet:557494 obsolete subtype of a disorder -MONDO:0017110 isolated Dandy-Walker malformation with hydrocephalus MONDO:8000031 Orphanet:269212 Orphanet:557494 obsolete subtype of a disorder -MONDO:0017111 isolated Dandy-Walker malformation without hydrocephalus MONDO:8000031 Orphanet:269215 Orphanet:557494 obsolete subtype of a disorder -MONDO:0017112 isolated unilateral hemispheric cerebellar hypoplasia MONDO:0020131 Orphanet:269218 Orphanet:98516 obsolete malformation of the cerebellar hemispheres -MONDO:0017112 isolated unilateral hemispheric cerebellar hypoplasia MONDO:8000030 Orphanet:269218 Orphanet:377791 obsolete morphological anomaly -MONDO:0017113 isolated bilateral hemispheric cerebellar hypoplasia MONDO:0020131 Orphanet:269221 Orphanet:98516 obsolete malformation of the cerebellar hemispheres -MONDO:0017113 isolated bilateral hemispheric cerebellar hypoplasia MONDO:8000030 Orphanet:269221 Orphanet:377791 obsolete morphological anomaly -MONDO:0017114 obsolete global cerebellar malformation MONDO:0015915 Orphanet:269224 Orphanet:182061 obsolete cerebellar malformation -MONDO:0017116 congenital communicating hydrocephalus MONDO:8000031 Orphanet:269505 Orphanet:557494 obsolete subtype of a disorder -MONDO:0017117 congenital non-communicating hydrocephalus MONDO:8000031 Orphanet:269510 Orphanet:557494 obsolete subtype of a disorder -MONDO:0017118 obsolete syndrome with a cerebellar malformation as major feature MONDO:0015220 Orphanet:269523 Orphanet:108991 obsolete syndrome with a central nervous system malformation as major feature -MONDO:0017119 obsolete syndrome with microcephaly as major feature MONDO:0015220 Orphanet:269528 Orphanet:108991 obsolete syndrome with a central nervous system malformation as major feature -MONDO:0017120 obsolete other syndrome with a central nervous system malformation as major feature MONDO:0015220 Orphanet:269531 Orphanet:108991 obsolete syndrome with a central nervous system malformation as major feature -MONDO:0017121 obsolete syndrome with a Dandy-Walker malformation as major feature MONDO:0017118 Orphanet:269546 Orphanet:269523 obsolete syndrome with a cerebellar malformation as major feature -MONDO:0017123 arthrogryposis-renal dysfunction-cholestasis syndrome MONDO:0015116 Orphanet:2697 Orphanet:101941 obsolete rare biliary tract disease -MONDO:0017123 arthrogryposis-renal dysfunction-cholestasis syndrome MONDO:0015509 Orphanet:2697 Orphanet:156607 obsolete hereditary biliary tract disease -MONDO:0017123 arthrogryposis-renal dysfunction-cholestasis syndrome MONDO:0017273 Orphanet:2697 Orphanet:281241 obsolete autosomal ichthyosis syndrome with fatal disease course -MONDO:0017123 arthrogryposis-renal dysfunction-cholestasis syndrome MONDO:0019721 Orphanet:2697 Orphanet:93547 obsolete syndromic renal or urinary tract malformation -MONDO:0017123 arthrogryposis-renal dysfunction-cholestasis syndrome MONDO:8000032 Orphanet:2697 Orphanet:377789 obsolete malformation syndrome -MONDO:0017124 noma MONDO:0015575 Orphanet:2700 Orphanet:163582 obsolete rare bacterial infectious disease -MONDO:0017127 obsolete inherited soft tissue tumor MONDO:0019041 Orphanet:271832 Orphanet:68336 obsolete rare genetic inherited tumor -MONDO:0017128 obsolete inherited digestive tract tumor MONDO:0019041 Orphanet:271835 Orphanet:68336 obsolete rare genetic inherited tumor -MONDO:0017129 obsolete inherited cardiac tumor MONDO:0019041 Orphanet:271841 Orphanet:68336 obsolete rare genetic inherited tumor -MONDO:0017130 obsolete genetic urogenital tumor MONDO:0019041 Orphanet:271844 Orphanet:68336 obsolete rare genetic inherited tumor -MONDO:0017131 obsolete hereditary cardiac anomaly MONDO:0015960 Orphanet:271853 Orphanet:183530 obsolete rare genetic developmental defect during embryogenesis -MONDO:0017132 obsolete hereditary ATTR amyloidosis MONDO:0016340 Orphanet:271861 Orphanet:217635 familial restrictive cardiomyopathy -MONDO:0017132 obsolete hereditary ATTR amyloidosis MONDO:0018634 Orphanet:271861 Orphanet:444116 hereditary amyloidosis -MONDO:0017132 obsolete hereditary ATTR amyloidosis MONDO:0019065 Orphanet:271861 Orphanet:69 amyloidosis -MONDO:0017134 odonto-onycho dysplasia-alopecia syndrome MONDO:0015336 Orphanet:2722 Orphanet:139042 obsolete malformation syndrome with odontal and/or periodontal component -MONDO:0017134 odonto-onycho dysplasia-alopecia syndrome MONDO:0026190 Orphanet:2722 Orphanet:183580 obsolete genetic malformation syndrome with odontal and/or periodontal component -MONDO:0017134 odonto-onycho dysplasia-alopecia syndrome MONDO:8000032 Orphanet:2722 Orphanet:377789 obsolete malformation syndrome -MONDO:0017135 olivopontocerebellar atrophy-deafness syndrome MONDO:0019589 Orphanet:2732 Orphanet:90642 obsolete syndromic genetic hearing loss -MONDO:0017135 olivopontocerebellar atrophy-deafness syndrome MONDO:8000032 Orphanet:2732 Orphanet:377789 obsolete malformation syndrome -MONDO:0017136 omodysplasia MONDO:0019697 Orphanet:2733 Orphanet:93438 obsolete mesomelic and rhizo-mesomelic dysplasia -MONDO:0017136 omodysplasia MONDO:8000032 Orphanet:2733 Orphanet:377789 obsolete malformation syndrome -MONDO:0017138 Opitz G/BBB syndrome MONDO:0015222 Orphanet:2745 Orphanet:108995 obsolete syndromic respiratory or mediastinal malformation -MONDO:0017138 Opitz G/BBB syndrome MONDO:0015246 Orphanet:2745 Orphanet:117573 obsolete syndromic anorectal malformation -MONDO:0017138 Opitz G/BBB syndrome MONDO:0015620 Orphanet:2745 Orphanet:165707 obsolete syndromic urogenital tract malformation -MONDO:0017138 Opitz G/BBB syndrome MONDO:0035863 Orphanet:2745 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0017138 Opitz G/BBB syndrome MONDO:8000032 Orphanet:2745 Orphanet:377789 obsolete malformation syndrome -MONDO:0017139 oromandibular-limb hypogenesis syndrome MONDO:0018236 Orphanet:2749 Orphanet:364571 obsolete dysostosis with limb and face anomalies as a major feature -MONDO:0017140 L1 syndrome MONDO:0016055 Orphanet:275543 Orphanet:199639 obsolete syndrome with corpus callosum agenesis /dysgenesis as a major feature -MONDO:0017140 L1 syndrome MONDO:0017122 Orphanet:275543 Orphanet:269573 obsolete genetic syndrome with corpus callosum agenesis/dysgenesis as a major feature -MONDO:0017140 L1 syndrome MONDO:0035862 Orphanet:275543 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome -MONDO:0017140 L1 syndrome MONDO:8000032 Orphanet:275543 Orphanet:377789 obsolete malformation syndrome -MONDO:0017141 obsolete hemorrhagic disorder due to a constitutional thrombocytopenia MONDO:0019097 Orphanet:275729 Orphanet:71202 obsolete hemorrhagic disorder due to a constitutional platelet anomaly -MONDO:0017142 obsolete hemorrhagic disorder due to a qualitative platelet defect MONDO:0019097 Orphanet:275736 Orphanet:71202 obsolete hemorrhagic disorder due to a constitutional platelet anomaly -MONDO:0017143 obsolete genetic infertility MONDO:0021198 Orphanet:275742 Orphanet:98053 obsolete rare genetic disease -MONDO:0017144 obsolete alpha-thalassemia and related diseases MONDO:0019050 Orphanet:275745 Orphanet:68364 inherited hemoglobinopathy -MONDO:0017144 obsolete alpha-thalassemia and related diseases MONDO:0034039 Orphanet:275745 Orphanet:466066 obsolete genetic hemoglobinopathy -MONDO:0017145 beta-thalassemia and related diseases MONDO:0034039 Orphanet:275749 Orphanet:466066 obsolete genetic hemoglobinopathy -MONDO:0017146 obsolete sickle cell disease and related diseases MONDO:0019050 Orphanet:275752 Orphanet:68364 inherited hemoglobinopathy -MONDO:0017146 obsolete sickle cell disease and related diseases MONDO:0034039 Orphanet:275752 Orphanet:466066 obsolete genetic hemoglobinopathy -MONDO:0017147 idiopathic pulmonary arterial hypertension MONDO:0008347 Orphanet:275766 Orphanet:422 obsolete idiopathic and/or familial pulmonary arterial hypertension -MONDO:0017147 idiopathic pulmonary arterial hypertension MONDO:8000031 Orphanet:275766 Orphanet:557494 obsolete subtype of a disorder -MONDO:0017148 heritable pulmonary arterial hypertension MONDO:0008347 Orphanet:275777 Orphanet:422 obsolete idiopathic and/or familial pulmonary arterial hypertension -MONDO:0017148 heritable pulmonary arterial hypertension MONDO:8000031 Orphanet:275777 Orphanet:557494 obsolete subtype of a disorder -MONDO:0017150 obsolete pulmonary arterial hypertension associated with another disease MONDO:0015924 Orphanet:275791 Orphanet:182090 pulmonary arterial hypertension -MONDO:0017151 obsolete pulmonary arterial hypertension associated with connective tissue disease MONDO:0017150 Orphanet:275798 Orphanet:275791 obsolete pulmonary arterial hypertension associated with another disease -MONDO:0017152 obsolete pulmonary arterial hypertension associated with congenital heart disease MONDO:0017150 Orphanet:275803 Orphanet:275791 obsolete pulmonary arterial hypertension associated with another disease -MONDO:0017153 obsolete pulmonary arterial hypertension associated with HIV infection MONDO:0017150 Orphanet:275808 Orphanet:275791 obsolete pulmonary arterial hypertension associated with another disease -MONDO:0017154 obsolete pulmonary arterial hypertension associated with portal hypertension MONDO:0017150 Orphanet:275813 Orphanet:275791 obsolete pulmonary arterial hypertension associated with another disease -MONDO:0017155 obsolete pulmonary arterial hypertension associated with schistosomiasis MONDO:0017150 Orphanet:275823 Orphanet:275791 obsolete pulmonary arterial hypertension associated with another disease -MONDO:0017156 obsolete pulmonary arterial hypertension associated with chronic hemolytic anemia MONDO:0017150 Orphanet:275828 Orphanet:275791 obsolete pulmonary arterial hypertension associated with another disease -MONDO:0017157 pulmonary hypertension owing to lung disease and/or hypoxia MONDO:0019096 Orphanet:275837 Orphanet:71198 obsolete rare pulmonary hypertension -MONDO:0017158 obsolete pulmonary hypertension with unclear multifactorial mechanism MONDO:0019096 Orphanet:275844 Orphanet:71198 obsolete rare pulmonary hypertension -MONDO:0017159 obsolete syndrome with pulmonary hypertension as a major feature MONDO:0019096 Orphanet:275853 Orphanet:71198 obsolete rare pulmonary hypertension -MONDO:0017160 behavioral variant of frontotemporal dementia MONDO:0017643 Orphanet:275864 Orphanet:306708 obsolete frontotemporal neurodegeneration with movement disorder -MONDO:0017161 frontotemporal dementia with motor neuron disease MONDO:0017643 Orphanet:275872 Orphanet:306708 obsolete frontotemporal neurodegeneration with movement disorder -MONDO:0017161 frontotemporal dementia with motor neuron disease MONDO:0020137 Orphanet:275872 Orphanet:98535 obsolete frontotemporal degeneration with dementia -MONDO:0017161 frontotemporal dementia with motor neuron disease MONDO:0028868 Orphanet:275872 Orphanet:276061 obsolete genetic frontotemporal degeneration with dementia -MONDO:0017162 imperforate oropharynx-costo vetebral anomalies syndrome MONDO:0019711 Orphanet:2759 Orphanet:93454 obsolete dysostosis with predominant vertebral and costal involvement -MONDO:0017162 imperforate oropharynx-costo vetebral anomalies syndrome MONDO:8000032 Orphanet:2759 Orphanet:377789 obsolete malformation syndrome -MONDO:0017163 obsolete hemolytic disease due to fetomaternal alloimmunization MONDO:0015911 Orphanet:275938 Orphanet:182047 obsolete rare acquired hemolytic anemia -MONDO:0017164 hemolytic disease of the newborn with Kell alloimmunization MONDO:0017163 Orphanet:275944 Orphanet:275938 obsolete hemolytic disease due to fetomaternal alloimmunization -MONDO:0017165 bile acid CoA ligase deficiency and defective amidation MONDO:0015581 Orphanet:276066 Orphanet:163631 obsolete bile acid synthesis defect with cholestasis and malabsorption -MONDO:0017166 obsolete rare tumor of salivary glands MONDO:0017371 Orphanet:276142 Orphanet:290849 obsolete rare head and neck tumor -MONDO:0017166 obsolete rare tumor of salivary glands MONDO:0019997 Orphanet:276142 Orphanet:97935 obsolete rare gastroenterologic disease -MONDO:0017166 obsolete rare tumor of salivary glands MONDO:0020033 Orphanet:276142 Orphanet:98059 obsolete rare digestive tumor -MONDO:0017167 malignant epithelial tumor of salivary glands MONDO:0017166 Orphanet:276145 Orphanet:276142 obsolete rare tumor of salivary glands -MONDO:0017168 benign epithelial tumor of salivary glands MONDO:0017166 Orphanet:276148 Orphanet:276142 obsolete rare tumor of salivary glands -MONDO:0017170 idiopathic recurrent stupor MONDO:0020009 Orphanet:276174 Orphanet:98006 obsolete rare neurologic disease -MONDO:0017171 mucopolysaccharidosis type 6, rapidly progressing MONDO:8000031 Orphanet:276212 Orphanet:557494 obsolete subtype of a disorder -MONDO:0017172 mucopolysaccharidosis type 6, slowly progressing MONDO:8000031 Orphanet:276223 Orphanet:557494 obsolete subtype of a disorder MONDO:0017173 obsolete non-syndromic male infertility due to sperm motility disorder MONDO:0000001 Orphanet:276234 Orphanet:377788 disease -MONDO:0017173 obsolete non-syndromic male infertility due to sperm motility disorder MONDO:0018395 Orphanet:276234 Orphanet:399813 obsolete male infertility due to sperm motility disorder -MONDO:0017174 Machado-Joseph disease type 1 MONDO:8000031 Orphanet:276238 Orphanet:557494 obsolete subtype of a disorder -MONDO:0017175 Machado-Joseph disease type 2 MONDO:8000031 Orphanet:276241 Orphanet:557494 obsolete subtype of a disorder -MONDO:0017176 Machado-Joseph disease type 3 MONDO:8000031 Orphanet:276244 Orphanet:557494 obsolete subtype of a disorder -MONDO:0017177 hemihyperplasia-multiple lipomatosis syndrome MONDO:0015501 Orphanet:276280 Orphanet:156237 obsolete syndrome or malformation associated with head and neck malformations -MONDO:0017177 hemihyperplasia-multiple lipomatosis syndrome MONDO:0015950 Orphanet:276280 Orphanet:183487 obsolete inherited skin tumor -MONDO:0017177 hemihyperplasia-multiple lipomatosis syndrome MONDO:0018719 Orphanet:276280 Orphanet:458830 obsolete obsolete rare capillary malformation with associated anomalies -MONDO:0017177 hemihyperplasia-multiple lipomatosis syndrome MONDO:0019300 Orphanet:276280 Orphanet:79386 obsolete rare skin tumor or hamartoma -MONDO:0017177 hemihyperplasia-multiple lipomatosis syndrome MONDO:0020063 Orphanet:276280 Orphanet:98196 obsolete malformation syndrome with hamartosis -MONDO:0017177 hemihyperplasia-multiple lipomatosis syndrome MONDO:0035162 Orphanet:276280 Orphanet:530313 obsolete PIK3CA-related overgrowth syndrome -MONDO:0017177 hemihyperplasia-multiple lipomatosis syndrome MONDO:8000032 Orphanet:276280 Orphanet:377789 obsolete malformation syndrome -MONDO:0017180 10q22.3q23.3 microduplication syndrome MONDO:8000032 Orphanet:276422 Orphanet:377789 obsolete malformation syndrome -MONDO:0017181 hypnic headache MONDO:0020011 Orphanet:276429 Orphanet:98022 obsolete rare headache disorder -MONDO:0017182 familial hyperinsulinism MONDO:0015513 Orphanet:276525 Orphanet:156638 obsolete rare genetic endocrine disease -MONDO:0017193 symptomatic form of Coffin-Lowry syndrome in female carriers MONDO:0016565 Orphanet:276630 Orphanet:240371 obsolete syndromic genetic obesity -MONDO:0017193 symptomatic form of Coffin-Lowry syndrome in female carriers MONDO:0035863 Orphanet:276630 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0017193 symptomatic form of Coffin-Lowry syndrome in female carriers MONDO:8000032 Orphanet:276630 Orphanet:377789 obsolete malformation syndrome -MONDO:0017194 Blount disease MONDO:8000032 Orphanet:2768 Orphanet:377789 obsolete malformation syndrome -MONDO:0017195 Bruck syndrome MONDO:0015669 Orphanet:2771 Orphanet:167762 obsolete rare disease with dentinogenesis imperfecta -MONDO:0017195 Bruck syndrome MONDO:0019704 Orphanet:2771 Orphanet:93446 obsolete primary bone dysplasia with decreased bone density -MONDO:0017195 Bruck syndrome MONDO:8000032 Orphanet:2771 Orphanet:377789 obsolete malformation syndrome -MONDO:0017196 osteogenesis imperfecta-retinopathy-seizures-intellectual disability syndrome MONDO:0019704 Orphanet:2773 Orphanet:93446 obsolete primary bone dysplasia with decreased bone density -MONDO:0017196 osteogenesis imperfecta-retinopathy-seizures-intellectual disability syndrome MONDO:0035863 Orphanet:2773 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0017196 osteogenesis imperfecta-retinopathy-seizures-intellectual disability syndrome MONDO:8000032 Orphanet:2773 Orphanet:377789 obsolete malformation syndrome -MONDO:0017197 osteopathia striata-pigmentary dermopathy-white forelock syndrome MONDO:0800084 Orphanet:2779 Orphanet:93444 obsolete primary bone dysplasia with increased bone density -MONDO:0017197 osteopathia striata-pigmentary dermopathy-white forelock syndrome MONDO:8000032 Orphanet:2779 Orphanet:377789 obsolete malformation syndrome -MONDO:0017198 osteopetrosis MONDO:0800084 Orphanet:2781 Orphanet:93444 obsolete primary bone dysplasia with increased bone density -MONDO:0017199 osteoporosis-macrocephaly-blindness-joint hyperlaxity syndrome MONDO:0019704 Orphanet:2787 Orphanet:93446 obsolete primary bone dysplasia with decreased bone density -MONDO:0017199 osteoporosis-macrocephaly-blindness-joint hyperlaxity syndrome MONDO:8000032 Orphanet:2787 Orphanet:377789 obsolete malformation syndrome -MONDO:0017200 polycystic ovaries-urethral sphincter dysfunction syndrome MONDO:0015106 Orphanet:2795 Orphanet:101433 obsolete rare urogenital disease -MONDO:0017201 Spasmus nutans MONDO:0032013 Orphanet:279882 Orphanet:377792 obsolete clinical syndrome -MONDO:0017201 Spasmus nutans MONDO:0034961 Orphanet:279882 Orphanet:519341 obsolete rare brainstem or cerebellar disorder with ophthalmic involvement as a major feature -MONDO:0017202 acute endophthalmitis MONDO:8000031 Orphanet:279888 Orphanet:557494 obsolete subtype of a disorder -MONDO:0017203 chronic endophthalmitis MONDO:8000031 Orphanet:279891 Orphanet:557494 obsolete subtype of a disorder -MONDO:0017205 primary oculocerebral lymphoma MONDO:0015121 Orphanet:279897 Orphanet:101950 obsolete rare eye tumor -MONDO:0017205 primary oculocerebral lymphoma MONDO:0020036 Orphanet:279897 Orphanet:98062 obsolete rare nervous system tumor -MONDO:0017212 paraneoplastic uveitis MONDO:0019541 Orphanet:279928 Orphanet:90061 obsolete non-infectious posterior uveitis -MONDO:0017213 postorgasmic illness syndrome MONDO:0032013 Orphanet:279947 Orphanet:377792 obsolete clinical syndrome -MONDO:0017214 vitamin B12-responsive methylmalonic acidemia MONDO:0017390 Orphanet:28 Orphanet:293355 obsolete methylmalonic acidemia without homocystinuria -MONDO:0017214 vitamin B12-responsive methylmalonic acidemia MONDO:0019743 Orphanet:28 Orphanet:93593 obsolete nephropathy secondary to a storage or other metabolic disease -MONDO:0017215 calciphylaxis MONDO:0024471 Orphanet:280062 Orphanet:496924 obsolete non-inflammatory vasculopathy -MONDO:0017216 calciphylaxis cutis MONDO:8000031 Orphanet:280065 Orphanet:557494 obsolete subtype of a disorder -MONDO:0017217 visceral calciphylaxis MONDO:8000031 Orphanet:280068 Orphanet:557494 obsolete subtype of a disorder -MONDO:0017218 obsolete septopreoptic holoprosencephaly MONDO:0016296 Orphanet:280195 Orphanet:2162 holoprosencephaly -MONDO:0017218 obsolete septopreoptic holoprosencephaly MONDO:8000031 Orphanet:280195 Orphanet:557494 obsolete subtype of a disorder -MONDO:0017219 microform holoprosencephaly MONDO:0017090 Orphanet:280200 Orphanet:268926 obsolete midline cerebral malformation -MONDO:0017219 microform holoprosencephaly MONDO:8000032 Orphanet:280200 Orphanet:377789 obsolete malformation syndrome -MONDO:0017220 laryngotracheoesophageal cleft type 0 MONDO:8000031 Orphanet:280205 Orphanet:557494 obsolete subtype of a disorder -MONDO:0017221 Pelizaeus-Merzbacher disease, connatal form MONDO:8000031 Orphanet:280210 Orphanet:557494 obsolete subtype of a disorder -MONDO:0017222 Pelizaeus-Merzbacher disease, classic form MONDO:8000031 Orphanet:280219 Orphanet:557494 obsolete subtype of a disorder -MONDO:0017223 Pelizaeus-Merzbacher disease, transitional form MONDO:8000031 Orphanet:280224 Orphanet:557494 obsolete subtype of a disorder -MONDO:0017224 Pelizaeus-Merzbacher disease in female carriers MONDO:8000031 Orphanet:280229 Orphanet:557494 obsolete subtype of a disorder -MONDO:0017225 null syndrome MONDO:8000031 Orphanet:280234 Orphanet:557494 obsolete subtype of a disorder -MONDO:0017227 autoimmune pancreatitis type 1 MONDO:8000031 Orphanet:280302 Orphanet:557494 obsolete subtype of a disorder -MONDO:0017229 distal monosomy 12p MONDO:8000032 Orphanet:280325 Orphanet:377789 obsolete malformation syndrome -MONDO:0017230 autosomal semi-dominant severe lipodystrophic laminopathy MONDO:0015885 Orphanet:280365 Orphanet:181368 obsolete rare insulin-resistance syndrome -MONDO:0017230 autosomal semi-dominant severe lipodystrophic laminopathy MONDO:0029812 Orphanet:280365 Orphanet:300763 obsolete laminopathy with lipodystrophy -MONDO:0017232 recessive intellectual disability-motor dysfunction-multiple joint contractures syndrome MONDO:0035862 Orphanet:280384 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome -MONDO:0017233 familial Alzheimer-like prion disease MONDO:0017234 Orphanet:280397 Orphanet:280400 obsolete inherited prion disease -MONDO:0017234 obsolete inherited prion disease MONDO:0018926 Orphanet:280400 Orphanet:56970 human prion disease -MONDO:0017234 obsolete inherited prion disease MONDO:0021037 Orphanet:280400 Orphanet:276058 obsolete genetic neurodegenerative disease with dementia -MONDO:0017235 familial omphalocele syndrome with facial dysmorphism MONDO:0015216 Orphanet:280403 Orphanet:108979 obsolete syndromic diaphragmatic or abdominal wall malformation -MONDO:0017235 familial omphalocele syndrome with facial dysmorphism MONDO:0015960 Orphanet:280403 Orphanet:183530 obsolete rare genetic developmental defect during embryogenesis -MONDO:0017235 familial omphalocele syndrome with facial dysmorphism MONDO:8000032 Orphanet:280403 Orphanet:377789 obsolete malformation syndrome -MONDO:0017237 hereditary sensorimotor neuropathy with hyperelastic skin MONDO:0015359 Orphanet:280598 Orphanet:140453 obsolete autosomal dominant hereditary demyelinating motor and sensory neuropathy -MONDO:0017238 hemoglobinopathy Toms River MONDO:0034039 Orphanet:280615 Orphanet:466066 obsolete genetic hemoglobinopathy -MONDO:0017239 familial progressive hyper- and hypopigmentation MONDO:0026157 Orphanet:280628 Orphanet:183463 obsolete genetic pigmentation anomaly of the skin +MONDO:0017240 obsolete acrodysostosis with multiple hormone resistance MONDO:0000001 Orphanet:280651 Orphanet:377788 disease MONDO:0017241 obsolete AP4-related intellectual disability and spastic paraplegia MONDO:0000001 Orphanet:280763 Orphanet:377788 disease -MONDO:0017241 obsolete AP4-related intellectual disability and spastic paraplegia MONDO:0015089 Orphanet:280763 Orphanet:100981 obsolete autosomal recessive complex spastic paraplegia -MONDO:0017241 obsolete AP4-related intellectual disability and spastic paraplegia MONDO:0035862 Orphanet:280763 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome -MONDO:0017243 bullous diffuse cutaneous mastocytosis MONDO:8000031 Orphanet:280785 Orphanet:557494 obsolete subtype of a disorder -MONDO:0017244 pseudoxanthomatous diffuse cutaneous mastocytosis MONDO:8000031 Orphanet:280794 Orphanet:557494 obsolete subtype of a disorder -MONDO:0017245 intralobar congenital pulmonary sequestration MONDO:8000031 Orphanet:280802 Orphanet:557494 obsolete subtype of a disorder -MONDO:0017246 extralobar congenital pulmonary sequestration MONDO:8000031 Orphanet:280811 Orphanet:557494 obsolete subtype of a disorder -MONDO:0017247 communicating congenital bronchopulmonary-foregut malformation MONDO:8000031 Orphanet:280821 Orphanet:557494 obsolete subtype of a disorder -MONDO:0017248 congenital pulmonary airway malformation type 0 MONDO:8000031 Orphanet:280827 Orphanet:557494 obsolete subtype of a disorder -MONDO:0017249 congenital pulmonary airway malformation type 1 MONDO:8000031 Orphanet:280832 Orphanet:557494 obsolete subtype of a disorder -MONDO:0017250 congenital pulmonary airway malformation type 2 MONDO:8000031 Orphanet:280840 Orphanet:557494 obsolete subtype of a disorder -MONDO:0017251 congenital pulmonary airway malformation type 3 MONDO:8000031 Orphanet:280847 Orphanet:557494 obsolete subtype of a disorder -MONDO:0017252 congenital pulmonary airway malformation type 4 MONDO:8000031 Orphanet:280854 Orphanet:557494 obsolete subtype of a disorder -MONDO:0017257 idiopathic posterior uveitis MONDO:0019541 Orphanet:280917 Orphanet:90061 obsolete non-infectious posterior uveitis -MONDO:0017259 obsolete systemic diseases with anterior uveitis MONDO:0006651 Orphanet:280926 Orphanet:280886 anterior uveitis -MONDO:0017260 obsolete systemic diseases with posterior uveitis MONDO:0001280 Orphanet:280930 Orphanet:280892 choroiditis -MONDO:0017261 obsolete systemic diseases with panuveitis MONDO:0017255 Orphanet:280933 Orphanet:280898 panuveitis -MONDO:0017262 obsolete inherited non-syndromic ichthyosis MONDO:0015947 Orphanet:281082 Orphanet:183435 inherited ichthyosis -MONDO:0017263 obsolete inherited ichthyosis syndromic form MONDO:0015947 Orphanet:281085 Orphanet:183435 inherited ichthyosis -MONDO:0017265 autosomal recessive congenital ichthyosis MONDO:0017262 Orphanet:281097 Orphanet:281082 obsolete inherited non-syndromic ichthyosis -MONDO:0017265 autosomal recessive congenital ichthyosis MONDO:0020162 Orphanet:281097 Orphanet:98571 obsolete secondary ectropion -MONDO:0017266 keratinopathic ichthyosis MONDO:0017262 Orphanet:281103 Orphanet:281082 obsolete inherited non-syndromic ichthyosis -MONDO:0017269 X-linked ichthyosis syndrome MONDO:0017263 Orphanet:281210 Orphanet:281085 obsolete inherited ichthyosis syndromic form -MONDO:0017270 obsolete autosomal ichthyosis syndrome MONDO:0017263 Orphanet:281217 Orphanet:281085 obsolete inherited ichthyosis syndromic form -MONDO:0017271 obsolete autosomal ichthyosis syndrome with prominent hair abnormalities MONDO:0017270 Orphanet:281222 Orphanet:281217 obsolete autosomal ichthyosis syndrome -MONDO:0017272 obsolete autosomal ichthyosis syndrome with prominent neurologics signs MONDO:0017270 Orphanet:281238 Orphanet:281217 obsolete autosomal ichthyosis syndrome -MONDO:0017273 obsolete autosomal ichthyosis syndrome with fatal disease course MONDO:0017270 Orphanet:281241 Orphanet:281217 obsolete autosomal ichthyosis syndrome -MONDO:0017275 spastic paraplegia-facial-cutaneous lesions syndrome MONDO:8000032 Orphanet:2819 Orphanet:377789 obsolete malformation syndrome -MONDO:0017276 frontotemporal dementia MONDO:0020137 Orphanet:282 Orphanet:98535 obsolete frontotemporal degeneration with dementia -MONDO:0017276 frontotemporal dementia MONDO:0028868 Orphanet:282 Orphanet:276061 obsolete genetic frontotemporal degeneration with dementia -MONDO:0017277 partial deletion of chromosome 12 MONDO:0020054 Orphanet:282124 Orphanet:98142 obsolete partial autosomal monosomy -MONDO:0017279 young-onset Parkinson disease MONDO:0017635 Orphanet:2828 Orphanet:306666 obsolete parkinsonian syndrome due to neurodegenerative disease -MONDO:0017279 young-onset Parkinson disease MONDO:0017661 Orphanet:2828 Orphanet:307055 obsolete rare parkinsonian syndrome due to genetic neurodegenerative disease -MONDO:0017280 demodicidosis MONDO:0015577 Orphanet:283 Orphanet:163588 obsolete rare parasitic disease -MONDO:0017281 renal caliceal diverticuli-deafness syndrome MONDO:0019589 Orphanet:2838 Orphanet:90642 obsolete syndromic genetic hearing loss -MONDO:0017281 renal caliceal diverticuli-deafness syndrome MONDO:0019721 Orphanet:2838 Orphanet:93547 obsolete syndromic renal or urinary tract malformation -MONDO:0017281 renal caliceal diverticuli-deafness syndrome MONDO:8000032 Orphanet:2838 Orphanet:377789 obsolete malformation syndrome -MONDO:0017282 alveolar echinococcosis MONDO:0015577 Orphanet:284 Orphanet:163588 obsolete rare parasitic disease -MONDO:0017283 DeSanto-Shinawi Syndrome due to 10p11.21p12.31 microdeletion MONDO:8000031 Orphanet:284169 Orphanet:557494 obsolete subtype of a disorder -MONDO:0017284 Xp22.13p22.2 duplication syndrome MONDO:0035863 Orphanet:284180 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0017284 Xp22.13p22.2 duplication syndrome MONDO:8000032 Orphanet:284180 Orphanet:377789 obsolete malformation syndrome -MONDO:0017285 penoscrotal transposition MONDO:0015933 Orphanet:2842 Orphanet:182121 obsolete non-syndromic urogenital tract malformation of male -MONDO:0017285 penoscrotal transposition MONDO:8000030 Orphanet:2842 Orphanet:377791 obsolete morphological anomaly -MONDO:0017286 tempi syndrome MONDO:0032013 Orphanet:284227 Orphanet:377792 obsolete clinical syndrome -MONDO:0017287 IgG4-related disease MONDO:0015939 Orphanet:284264 Orphanet:182228 obsolete systemic autoimmune disease -MONDO:0017289 fetal lung interstitial tumor MONDO:8000031 Orphanet:284362 Orphanet:557494 obsolete subtype of a disorder -MONDO:0017290 familial intrahepatic cholestasis MONDO:0015115 Orphanet:284385 Orphanet:101940 obsolete rare genetic metabolic liver disease -MONDO:0017291 reversible cerebral vasoconstriction syndrome MONDO:0020011 Orphanet:284388 Orphanet:98022 obsolete rare headache disorder -MONDO:0017291 reversible cerebral vasoconstriction syndrome MONDO:0032013 Orphanet:284388 Orphanet:377792 obsolete clinical syndrome -MONDO:0017292 well-differentiated fetal adenocarcinoma of the lung MONDO:0015119 Orphanet:284395 Orphanet:101945 obsolete bronchopulmonary tumor -MONDO:0017295 glycerol kinase deficiency, juvenile form MONDO:8000031 Orphanet:284411 Orphanet:557494 obsolete subtype of a disorder -MONDO:0017296 glycerol kinase deficiency, adult form MONDO:8000031 Orphanet:284414 Orphanet:557494 obsolete subtype of a disorder -MONDO:0017297 chronic lymphocytic inflammation with pontine perivascular enhancement responsive to steroids MONDO:0015916 Orphanet:284448 Orphanet:182064 obsolete rare neuroinflammatory or neuroimmunological disease -MONDO:0017301 pericardial and diaphragmatic defect MONDO:0015216 Orphanet:2847 Orphanet:108979 obsolete syndromic diaphragmatic or abdominal wall malformation -MONDO:0017301 pericardial and diaphragmatic defect MONDO:0015960 Orphanet:2847 Orphanet:183530 obsolete rare genetic developmental defect during embryogenesis -MONDO:0017301 pericardial and diaphragmatic defect MONDO:8000032 Orphanet:2847 Orphanet:377789 obsolete malformation syndrome -MONDO:0017302 obsolete qualitative or quantitative defects of troponin MONDO:0016139 Orphanet:284786 Orphanet:207049 qualitative or quantitative protein defects in neuromuscular diseases -MONDO:0017304 ocular albinism MONDO:0020275 Orphanet:284804 Orphanet:98706 obsolete oculocutaneous or ocular albinism -MONDO:0017305 syndromic oculocutaneous albinism MONDO:0020275 Orphanet:284811 Orphanet:98706 obsolete oculocutaneous or ocular albinism -MONDO:0017308 obsolete Marfan syndrome type 2 MONDO:0007947 Orphanet:284973 Orphanet:558 Marfan syndrome -MONDO:0017308 obsolete Marfan syndrome type 2 MONDO:8000031 Orphanet:284973 Orphanet:557494 obsolete subtype of a disorder -MONDO:0017309 neonatal Marfan syndrome MONDO:0017311 Orphanet:284979 Orphanet:285014 obsolete rare disease with thoracic aortic aneurysm and aortic dissection -MONDO:0017311 obsolete rare disease with thoracic aortic aneurysm and aortic dissection MONDO:0016517 Orphanet:285014 Orphanet:233655 obsolete rare genetic vascular disease -MONDO:0017311 obsolete rare disease with thoracic aortic aneurysm and aortic dissection MONDO:0020002 Orphanet:285014 Orphanet:97962 obsolete rare surgical thoracic disease -MONDO:0017312 Perrault syndrome MONDO:0017965 Orphanet:2855 Orphanet:325109 obsolete syndrome with 46,XX disorder of sex development -MONDO:0017312 Perrault syndrome MONDO:0017978 Orphanet:2855 Orphanet:325638 obsolete syndrome with disorder of sex development of gynecological interest -MONDO:0017312 Perrault syndrome MONDO:0018157 Orphanet:2855 Orphanet:35696 obsolete mitochondrial disorder due to a defect in mitochondrial protein synthesis -MONDO:0017312 Perrault syndrome MONDO:0018402 Orphanet:2855 Orphanet:399877 obsolete female infertility due to gonadal dysgenesis -MONDO:0017312 Perrault syndrome MONDO:0019589 Orphanet:2855 Orphanet:90642 obsolete syndromic genetic hearing loss -MONDO:0017312 Perrault syndrome MONDO:0034443 Orphanet:2855 Orphanet:485382 obsolete genetic non-acquired premature ovarian failure -MONDO:0017314 Ehlers-Danlos syndrome, vascular type MONDO:0017311 Orphanet:286 Orphanet:285014 obsolete rare disease with thoracic aortic aneurysm and aortic dissection -MONDO:0017315 short stature-webbed neck-heart disease syndrome MONDO:0035863 Orphanet:2865 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0017315 short stature-webbed neck-heart disease syndrome MONDO:8000032 Orphanet:2865 Orphanet:377789 obsolete malformation syndrome -MONDO:0017316 short stature-deafness-neutrophil dysfunction-dysmorphism syndrome MONDO:0019589 Orphanet:2866 Orphanet:90642 obsolete syndromic genetic hearing loss -MONDO:0017316 short stature-deafness-neutrophil dysfunction-dysmorphism syndrome MONDO:8000032 Orphanet:2866 Orphanet:377789 obsolete malformation syndrome -MONDO:0017317 phakomatosis pigmentokeratotica MONDO:0017414 Orphanet:2874 Orphanet:294057 obsolete rare nevus -MONDO:0017317 phakomatosis pigmentokeratotica MONDO:0020063 Orphanet:2874 Orphanet:98196 obsolete malformation syndrome with hamartosis -MONDO:0017317 phakomatosis pigmentokeratotica MONDO:8000032 Orphanet:2874 Orphanet:377789 obsolete malformation syndrome -MONDO:0017318 phakomatosis pigmentovascularis MONDO:0020063 Orphanet:2875 Orphanet:98196 obsolete malformation syndrome with hamartosis -MONDO:0017318 phakomatosis pigmentovascularis MONDO:0020222 Orphanet:2875 Orphanet:98638 obsolete rare disease with glaucoma as a major feature -MONDO:0017319 hereditary elliptocytosis MONDO:0020101 Orphanet:288 Orphanet:98364 obsolete constitutional hemolytic anemia due to membrane defect -MONDO:0017321 pili torti-onychodysplasia syndrome MONDO:8000032 Orphanet:2890 Orphanet:377789 obsolete malformation syndrome -MONDO:0017322 disorders of vitamin D metabolism MONDO:0015970 Orphanet:289098 Orphanet:183634 obsolete rare genetic parathyroid disease and phosphocalcic metabolism disorder -MONDO:0017322 disorders of vitamin D metabolism MONDO:0019061 Orphanet:289098 Orphanet:68415 obsolete rare parathyroid disease and phosphocalcic metabolism anomaly -MONDO:0017322 disorders of vitamin D metabolism MONDO:0019705 Orphanet:289098 Orphanet:93447 obsolete primary bone dysplasia with defective bone mineralization -MONDO:0017325 early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation MONDO:0035862 Orphanet:289266 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome -MONDO:0017326 infective dermatitis associated with HTLV-1 MONDO:0015576 Orphanet:289347 Orphanet:163585 obsolete rare viral disease -MONDO:0017326 infective dermatitis associated with HTLV-1 MONDO:0019546 Orphanet:289347 Orphanet:90077 obsolete other acquired skin disease -MONDO:0017328 non-central nervous system-localized embryonal carcinoma MONDO:8000031 Orphanet:289362 Orphanet:557494 obsolete subtype of a disorder -MONDO:0017329 familial vesicoureteral reflux MONDO:0015934 Orphanet:289365 Orphanet:182124 obsolete non-syndromic urogenital tract malformation of male and female -MONDO:0017329 familial vesicoureteral reflux MONDO:0019720 Orphanet:289365 Orphanet:93546 obsolete non-syndromic renal or urinary tract malformation -MONDO:0017329 familial vesicoureteral reflux MONDO:0024987 Orphanet:289365 Orphanet:156622 obsolete genetic urogenital tract malformation -MONDO:0017329 familial vesicoureteral reflux MONDO:8000032 Orphanet:289365 Orphanet:377789 obsolete malformation syndrome -MONDO:0017330 malignancy diagnosed during pregnancy MONDO:0015582 Orphanet:289385 Orphanet:163637 obsolete rare disorder related with pregnancy, childbirth and puerperium -MONDO:0017330 malignancy diagnosed during pregnancy MONDO:0032014 Orphanet:289385 Orphanet:377793 obsolete particular clinical situation in a disease or syndrome -MONDO:0017332 pyoderma gangrenosum-acne-suppurative hidradenitis syndrome MONDO:0017370 Orphanet:289478 Orphanet:290842 obsolete autoinflammatory syndrome with skin involvement -MONDO:0017332 pyoderma gangrenosum-acne-suppurative hidradenitis syndrome MONDO:0017954 Orphanet:289478 Orphanet:324927 obsolete pyogenic autoinflammatory syndrome MONDO:0017333 obsolete hypomyelinating leukodystrophy with or without oligondontia and/or hypogonadism MONDO:0000001 Orphanet:289494 Orphanet:377788 disease -MONDO:0017333 obsolete hypomyelinating leukodystrophy with or without oligondontia and/or hypogonadism MONDO:0019046 Orphanet:289494 Orphanet:68356 leukodystrophy -MONDO:0017334 12q15q21.1 microdeletion syndrome MONDO:8000032 Orphanet:289513 Orphanet:377789 obsolete malformation syndrome -MONDO:0017335 microtriplication 11q24.1 MONDO:0035863 Orphanet:289522 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0017335 microtriplication 11q24.1 MONDO:8000032 Orphanet:289522 Orphanet:377789 obsolete malformation syndrome -MONDO:0017337 inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency MONDO:0020999 Orphanet:289548 Orphanet:101960 obsolete genetic chronic primary adrenal insufficiency -MONDO:0017338 fatal multiple mitochondrial dysfunctions syndrome MONDO:0017718 Orphanet:289573 Orphanet:309136 obsolete mitochondrial disorder due to a defect in assembly or maturation of the respiratory chain complexes -MONDO:0017338 fatal multiple mitochondrial dysfunctions syndrome MONDO:0019058 Orphanet:289573 Orphanet:68385 obsolete neurometabolic disease -MONDO:0017339 exfoliative ichthyosis MONDO:0027751 Orphanet:289586 Orphanet:250811 obsolete serpinopathy with loss of serpin function -MONDO:0017340 juvenile nasopharyngeal angiofibroma MONDO:0020035 Orphanet:289596 Orphanet:98061 obsolete rare otorhinolaryngologic tumor -MONDO:0017341 virus associated tumor MONDO:0020031 Orphanet:289635 Orphanet:98057 obsolete rare tumor -MONDO:0017349 myopericytoma MONDO:0019099 Orphanet:289685 Orphanet:71209 obsolete rare soft tissue tumor -MONDO:0017353 neonatal glycine encephalopathy MONDO:8000031 Orphanet:289857 Orphanet:557494 obsolete subtype of a disorder -MONDO:0017354 infantile glycine encephalopathy MONDO:8000031 Orphanet:289860 Orphanet:557494 obsolete subtype of a disorder -MONDO:0017357 transient hyperammonemia of the newborn MONDO:0019058 Orphanet:289877 Orphanet:68385 obsolete neurometabolic disease -MONDO:0017357 transient hyperammonemia of the newborn MONDO:0020000 Orphanet:289877 Orphanet:97955 obsolete rare respiratory disease -MONDO:0017357 transient hyperammonemia of the newborn MONDO:0032014 Orphanet:289877 Orphanet:377793 obsolete particular clinical situation in a disease or syndrome -MONDO:0017360 vitamin B12-unresponsive methylmalonic acidemia type mut0 MONDO:8000031 Orphanet:289916 Orphanet:557494 obsolete subtype of a disorder -MONDO:0017361 congenital rubella syndrome MONDO:0015659 Orphanet:290 Orphanet:166490 obsolete infectious disease with epilepsy -MONDO:0017361 congenital rubella syndrome MONDO:0020225 Orphanet:290 Orphanet:98641 obsolete syndromic cataract -MONDO:0017363 idiopathic chronic eosinophilic pneumonia MONDO:0020028 Orphanet:2902 Orphanet:98052 obsolete rare allergic respiratory disease -MONDO:0017364 POEMS syndrome MONDO:0016169 Orphanet:2905 Orphanet:208974 obsolete chronic acquired demyelinating polyneuropathy -MONDO:0017364 POEMS syndrome MONDO:0016178 Orphanet:2905 Orphanet:209010 obsolete peripheral neuropathy associated with monoclonal gammopathy -MONDO:0017364 POEMS syndrome MONDO:0016180 Orphanet:2905 Orphanet:209016 obsolete hematological disease associated with an acquired peripheral neuropathy -MONDO:0017366 hereditary pheochromocytoma-paraganglioma MONDO:0015971 Orphanet:29072 Orphanet:183637 obsolete rare genetic adrenal disease -MONDO:0017366 hereditary pheochromocytoma-paraganglioma MONDO:0025511 Orphanet:29072 Orphanet:271847 obsolete inherited neuroendocrine tumor -MONDO:0017368 obsolete systemic disease with skin involvement MONDO:0019519 Orphanet:290836 Orphanet:89826 obsolete rare skin disease -MONDO:0017369 obsolete autoinflammatory syndrome with immune deficiency MONDO:0015135 Orphanet:290839 Orphanet:101988 obsolete primary immunodeficiency due to a genetic defect in innate immunity -MONDO:0017370 obsolete autoinflammatory syndrome with skin involvement MONDO:0017368 Orphanet:290842 Orphanet:290836 obsolete systemic disease with skin involvement -MONDO:0017371 obsolete rare head and neck tumor MONDO:0020031 Orphanet:290849 Orphanet:98057 obsolete rare tumor -MONDO:0017372 congenital varicella syndrome MONDO:0020225 Orphanet:291 Orphanet:98641 obsolete syndromic cataract -MONDO:0017376 reactive arthritis MONDO:0015940 Orphanet:29207 Orphanet:182231 obsolete rare rheumatologic disease -MONDO:0017377 preaxial polydactyly-colobomata-intellectual disability syndrome MONDO:0035863 Orphanet:2921 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0017377 preaxial polydactyly-colobomata-intellectual disability syndrome MONDO:8000032 Orphanet:2921 Orphanet:377789 obsolete malformation syndrome -MONDO:0017379 polyneuropathy-intellectual disability-acromicria-premature menopause syndrome MONDO:0035863 Orphanet:2928 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0017379 polyneuropathy-intellectual disability-acromicria-premature menopause syndrome MONDO:8000032 Orphanet:2928 Orphanet:377789 obsolete malformation syndrome -MONDO:0017380 juvenile polyposis syndrome MONDO:0018188 Orphanet:2929 Orphanet:363314 obsolete hereditary intestinal polyposis -MONDO:0017381 congenital herpes simplex virus infection MONDO:0015576 Orphanet:293 Orphanet:163585 obsolete rare viral disease -MONDO:0017382 familial clubfoot due to 5q31 microdeletion MONDO:8000031 Orphanet:293144 Orphanet:557494 obsolete subtype of a disorder -MONDO:0017383 familial clubfoot due to PITX1 point mutation MONDO:0019712 Orphanet:293150 Orphanet:93455 obsolete patellar dysostosis -MONDO:0017383 familial clubfoot due to PITX1 point mutation MONDO:8000031 Orphanet:293150 Orphanet:557494 obsolete subtype of a disorder -MONDO:0017385 malignant migrating partial seizures of infancy MONDO:0015922 Orphanet:293181 Orphanet:182083 obsolete channelopathy with epilepsy -MONDO:0017386 pleomorphic rhabdomyosarcoma MONDO:8000031 Orphanet:293199 Orphanet:557494 obsolete subtype of a disorder -MONDO:0017388 celiac trunk compression syndrome MONDO:0015621 Orphanet:293208 Orphanet:165711 obsolete rare abdominal surgical disease -MONDO:0017389 tetrahydrobiopterin-responsive hyperphenylalaninemia/phenylketonuria MONDO:8000031 Orphanet:293284 Orphanet:557494 obsolete subtype of a disorder -MONDO:0017390 obsolete methylmalonic acidemia without homocystinuria MONDO:0019215 Orphanet:293355 Orphanet:79163 classic organic aciduria -MONDO:0017393 blepharophimosis - intellectual disability syndrome MONDO:0020169 Orphanet:293642 Orphanet:98578 obsolete rare disorder with ptosis -MONDO:0017393 blepharophimosis - intellectual disability syndrome MONDO:0035863 Orphanet:293642 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0017394 ketamine-induced biliary dilatation MONDO:0017633 Orphanet:293807 Orphanet:306640 obsolete rare intoxication due to medical products -MONDO:0017396 toxic dermatosis MONDO:0019519 Orphanet:293815 Orphanet:89826 obsolete rare skin disease -MONDO:0017397 obsolete constitutional dyserythropoietic anemia MONDO:0015223 Orphanet:293830 Orphanet:108997 obsolete rare anemia -MONDO:0017397 obsolete constitutional dyserythropoietic anemia MONDO:0015972 Orphanet:293830 Orphanet:183651 obsolete rare constitutional anemia -MONDO:0017398 3MC syndrome MONDO:0035863 Orphanet:293843 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0017398 3MC syndrome MONDO:8000032 Orphanet:293843 Orphanet:377789 obsolete malformation syndrome -MONDO:0017400 hypoplastic pancreas-intestinal atresia-hypoplastic gallbalder syndrome MONDO:0015212 Orphanet:293864 Orphanet:108969 obsolete syndromic intestinal malformation -MONDO:0017400 hypoplastic pancreas-intestinal atresia-hypoplastic gallbalder syndrome MONDO:0015214 Orphanet:293864 Orphanet:108973 obsolete syndromic visceral malformation -MONDO:0017400 hypoplastic pancreas-intestinal atresia-hypoplastic gallbalder syndrome MONDO:0034661 Orphanet:293864 Orphanet:498350 obsolete syndromic biliary atresia -MONDO:0017400 hypoplastic pancreas-intestinal atresia-hypoplastic gallbalder syndrome MONDO:8000032 Orphanet:293864 Orphanet:377789 obsolete malformation syndrome -MONDO:0017401 familial isolated arrhythmogenic ventricular dysplasia, left dominant form MONDO:8000031 Orphanet:293888 Orphanet:557494 obsolete subtype of a disorder -MONDO:0017402 familial isolated arrhythmogenic ventricular dysplasia, biventricular form MONDO:8000031 Orphanet:293899 Orphanet:557494 obsolete subtype of a disorder -MONDO:0017403 familial isolated arrhythmogenic ventricular dysplasia, right dominant form MONDO:8000031 Orphanet:293910 Orphanet:557494 obsolete subtype of a disorder -MONDO:0017404 distal Xq28 microduplication syndrome MONDO:0035862 Orphanet:293939 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome -MONDO:0017404 distal Xq28 microduplication syndrome MONDO:8000032 Orphanet:293939 Orphanet:377789 obsolete malformation syndrome -MONDO:0017405 1p21.3 microdeletion syndrome MONDO:0015878 Orphanet:293948 Orphanet:180772 obsolete rare disease with autism -MONDO:0017405 1p21.3 microdeletion syndrome MONDO:0035862 Orphanet:293948 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome -MONDO:0017405 1p21.3 microdeletion syndrome MONDO:8000032 Orphanet:293948 Orphanet:377789 obsolete malformation syndrome -MONDO:0017406 hypogonadotropic hypogonadism-severe microcephaly-sensorineural hearing loss-dysmorphism syndrome MONDO:0015890 Orphanet:293967 Orphanet:181387 obsolete rare disorder with congenital hypogonadotropic hypogonadism -MONDO:0017406 hypogonadotropic hypogonadism-severe microcephaly-sensorineural hearing loss-dysmorphism syndrome MONDO:0017119 Orphanet:293967 Orphanet:269528 obsolete syndrome with microcephaly as major feature -MONDO:0017406 hypogonadotropic hypogonadism-severe microcephaly-sensorineural hearing loss-dysmorphism syndrome MONDO:0019589 Orphanet:293967 Orphanet:90642 obsolete syndromic genetic hearing loss -MONDO:0017406 hypogonadotropic hypogonadism-severe microcephaly-sensorineural hearing loss-dysmorphism syndrome MONDO:8000032 Orphanet:293967 Orphanet:377789 obsolete malformation syndrome -MONDO:0017407 deficiency in anterior pituitary function - variable immunodeficiency syndrome MONDO:0018041 Orphanet:293978 Orphanet:331244 obsolete other immunodeficiency syndrome with predominantly antibody defects -MONDO:0017407 deficiency in anterior pituitary function - variable immunodeficiency syndrome MONDO:0019827 Orphanet:293978 Orphanet:95495 obsolete disease associated with non-acquired combined pituitary hormone deficiency -MONDO:0017408 rapid-onset childhood obesity-hypothalamic dysfunction-hypoventilation-autonomic dysregulation syndrome MONDO:0015118 Orphanet:293987 Orphanet:101944 obsolete rare pulmonary disease -MONDO:0017408 rapid-onset childhood obesity-hypothalamic dysfunction-hypoventilation-autonomic dysregulation syndrome MONDO:0015510 Orphanet:293987 Orphanet:156610 obsolete rare genetic respiratory disease -MONDO:0017408 rapid-onset childhood obesity-hypothalamic dysfunction-hypoventilation-autonomic dysregulation syndrome MONDO:0016565 Orphanet:293987 Orphanet:240371 obsolete syndromic genetic obesity -MONDO:0017409 fetal cytomegalovirus syndrome MONDO:0015659 Orphanet:294 Orphanet:166490 obsolete infectious disease with epilepsy -MONDO:0017410 porencephaly MONDO:0015655 Orphanet:2940 Orphanet:166478 obsolete cerebral malformation with epilepsy -MONDO:0017411 neonatal inflammatory skin and bowel disease MONDO:0015187 Orphanet:294023 Orphanet:104012 obsolete rare inflammatory bowel disease -MONDO:0017411 neonatal inflammatory skin and bowel disease MONDO:0015616 Orphanet:294023 Orphanet:165655 obsolete rare genetic intestinal disease -MONDO:0017411 neonatal inflammatory skin and bowel disease MONDO:0017369 Orphanet:294023 Orphanet:290839 obsolete autoinflammatory syndrome with immune deficiency -MONDO:0017411 neonatal inflammatory skin and bowel disease MONDO:0017370 Orphanet:294023 Orphanet:290842 obsolete autoinflammatory syndrome with skin involvement -MONDO:0017411 neonatal inflammatory skin and bowel disease MONDO:0017954 Orphanet:294023 Orphanet:324927 obsolete pyogenic autoinflammatory syndrome -MONDO:0017411 neonatal inflammatory skin and bowel disease MONDO:0019274 Orphanet:294023 Orphanet:79359 obsolete other epidermal disorder -MONDO:0017411 neonatal inflammatory skin and bowel disease MONDO:0019275 Orphanet:294023 Orphanet:79360 obsolete other genetic epidermal disease -MONDO:0017411 neonatal inflammatory skin and bowel disease MONDO:0035862 Orphanet:294023 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome -MONDO:0017414 obsolete rare nevus MONDO:0019300 Orphanet:294057 Orphanet:79386 obsolete rare skin tumor or hamartoma -MONDO:0017417 renal-hepatic-pancreatic dysplasia MONDO:0015114 Orphanet:294415 Orphanet:101939 obsolete rare parenchymal liver disease -MONDO:0017417 renal-hepatic-pancreatic dysplasia MONDO:0015214 Orphanet:294415 Orphanet:108973 obsolete syndromic visceral malformation -MONDO:0017417 renal-hepatic-pancreatic dysplasia MONDO:0015508 Orphanet:294415 Orphanet:156604 obsolete hereditary parenchymatous liver disease -MONDO:0017417 renal-hepatic-pancreatic dysplasia MONDO:0022405 Orphanet:294415 Orphanet:156180 obsolete retinal ciliopathy due to mutation in nephronophthisis gene -MONDO:0017417 renal-hepatic-pancreatic dysplasia MONDO:0022409 Orphanet:294415 Orphanet:156162 obsolete nephropathy-associated ciliopathy -MONDO:0017417 renal-hepatic-pancreatic dysplasia MONDO:8000032 Orphanet:294415 Orphanet:377789 obsolete malformation syndrome -MONDO:0017418 chronic intestinal failure MONDO:0015245 Orphanet:294422 Orphanet:117569 obsolete rare intestinal disease -MONDO:0017418 chronic intestinal failure MONDO:0032013 Orphanet:294422 Orphanet:377792 obsolete clinical syndrome -MONDO:0017419 non-syndromic amelia MONDO:0034668 Orphanet:294925 Orphanet:498461 obsolete terminal transverse limb defect -MONDO:0017420 obsolete intercalary limb defects MONDO:0019713 Orphanet:294927 Orphanet:93457 non-syndromic limb reduction defect -MONDO:0017427 congenital deformities of limbs MONDO:0015227 Orphanet:294944 Orphanet:109011 obsolete non-syndromic limb malformation -MONDO:0017428 obsolete congenital deformities of fingers MONDO:0017427 Orphanet:294947 Orphanet:294944 congenital deformities of limbs -MONDO:0017429 obsolete joint formation defects MONDO:0015227 Orphanet:294949 Orphanet:109011 obsolete non-syndromic limb malformation -MONDO:0017429 obsolete joint formation defects MONDO:0018235 Orphanet:294949 Orphanet:364568 obsolete dysostosis with limb anomaly as a major feature -MONDO:0017429 obsolete joint formation defects MONDO:0018455 Orphanet:294949 Orphanet:404571 obsolete dysostosis of genetic origin with limb anomaly as a major feature -MONDO:0017430 obsolete non-syndromic congenital joint dislocations MONDO:0015227 Orphanet:294951 Orphanet:109011 obsolete non-syndromic limb malformation -MONDO:0017431 obsolete non-syndromic limb overgrowth MONDO:0015227 Orphanet:294953 Orphanet:109011 obsolete non-syndromic limb malformation -MONDO:0017432 obsolete syndrome with limb reduction defects MONDO:0015226 Orphanet:294955 Orphanet:109009 obsolete syndrome with limb malformations as a major feature -MONDO:0017432 obsolete syndrome with limb reduction defects MONDO:0018235 Orphanet:294955 Orphanet:364568 obsolete dysostosis with limb anomaly as a major feature -MONDO:0017433 obsolete dysostosis with combined reduction defects of upper and lower limbs MONDO:0015226 Orphanet:294957 Orphanet:109009 obsolete syndrome with limb malformations as a major feature -MONDO:0017433 obsolete dysostosis with combined reduction defects of upper and lower limbs MONDO:0018235 Orphanet:294957 Orphanet:364568 obsolete dysostosis with limb anomaly as a major feature -MONDO:0017433 obsolete dysostosis with combined reduction defects of upper and lower limbs MONDO:0018455 Orphanet:294957 Orphanet:404571 obsolete dysostosis of genetic origin with limb anomaly as a major feature -MONDO:0017434 obsolete syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy MONDO:0015226 Orphanet:294959 Orphanet:109009 obsolete syndrome with limb malformations as a major feature -MONDO:0017434 obsolete syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy MONDO:0018235 Orphanet:294959 Orphanet:364568 obsolete dysostosis with limb anomaly as a major feature -MONDO:0017434 obsolete syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy MONDO:0018455 Orphanet:294959 Orphanet:404571 obsolete dysostosis of genetic origin with limb anomaly as a major feature -MONDO:0017435 popliteal pterygium syndrome MONDO:0015501 Orphanet:294963 Orphanet:156237 obsolete syndrome or malformation associated with head and neck malformations -MONDO:0017435 popliteal pterygium syndrome MONDO:0020156 Orphanet:294963 Orphanet:98565 obsolete syndromic ankyloblepharon -MONDO:0017437 amelia of upper limb MONDO:8000030 Orphanet:294967 Orphanet:377791 obsolete morphological anomaly -MONDO:0017438 amelia of lower limb MONDO:8000030 Orphanet:294969 Orphanet:377791 obsolete morphological anomaly -MONDO:0017439 tetra-amelia MONDO:8000030 Orphanet:294971 Orphanet:377791 obsolete morphological anomaly -MONDO:0017440 humeral agenesis/hypoplasia MONDO:0017420 Orphanet:294973 Orphanet:294927 obsolete intercalary limb defects -MONDO:0017440 humeral agenesis/hypoplasia MONDO:8000030 Orphanet:294973 Orphanet:377791 obsolete morphological anomaly -MONDO:0017441 congenital absence of upper arm and forearm with hand present MONDO:0017420 Orphanet:294975 Orphanet:294927 obsolete intercalary limb defects -MONDO:0017441 congenital absence of upper arm and forearm with hand present MONDO:8000030 Orphanet:294975 Orphanet:377791 obsolete morphological anomaly -MONDO:0017442 congenital absence of thigh and lower leg with foot present MONDO:0017420 Orphanet:294977 Orphanet:294927 obsolete intercalary limb defects -MONDO:0017442 congenital absence of thigh and lower leg with foot present MONDO:8000030 Orphanet:294977 Orphanet:377791 obsolete morphological anomaly -MONDO:0017443 congenital absence of both forearm and hand MONDO:8000030 Orphanet:294979 Orphanet:377791 obsolete morphological anomaly -MONDO:0017444 congenital absence of both lower leg and foot MONDO:8000030 Orphanet:294981 Orphanet:377791 obsolete morphological anomaly -MONDO:0017445 acheiria MONDO:0034668 Orphanet:294983 Orphanet:498461 obsolete terminal transverse limb defect -MONDO:0017445 acheiria MONDO:8000030 Orphanet:294983 Orphanet:377791 obsolete morphological anomaly -MONDO:0017446 apodia MONDO:0034668 Orphanet:294986 Orphanet:498461 obsolete terminal transverse limb defect -MONDO:0017446 apodia MONDO:8000030 Orphanet:294986 Orphanet:377791 obsolete morphological anomaly -MONDO:0017447 obsolete congenital absence/hypoplasia of thumb MONDO:0034667 Orphanet:294988 Orphanet:498457 obsolete longitudinal limb defect -MONDO:0017447 obsolete congenital absence/hypoplasia of thumb MONDO:8000030 Orphanet:294988 Orphanet:377791 obsolete morphological anomaly -MONDO:0017453 fetal parvovirus syndrome MONDO:0015323 Orphanet:295 Orphanet:138059 obsolete teratogenic Pierre Robin syndrome -MONDO:0017453 fetal parvovirus syndrome MONDO:8000032 Orphanet:295 Orphanet:377789 obsolete malformation syndrome -MONDO:0017455 hyperphalangy MONDO:0019714 Orphanet:295002 Orphanet:93458 obsolete non-syndromic polydactyly, syndactyly and/or hyperphalangy -MONDO:0017455 hyperphalangy MONDO:8000030 Orphanet:295002 Orphanet:377791 obsolete morphological anomaly -MONDO:0017456 central polydactyly of fingers MONDO:0034671 Orphanet:295004 Orphanet:498470 obsolete non-syndromic complex polydactyly -MONDO:0017456 central polydactyly of fingers MONDO:8000030 Orphanet:295004 Orphanet:377791 obsolete morphological anomaly -MONDO:0017460 syndactyly type 6 MONDO:8000030 Orphanet:295012 Orphanet:377791 obsolete morphological anomaly -MONDO:0017461 familial isolated clinodactyly of fingers MONDO:0017428 Orphanet:295014 Orphanet:294947 obsolete congenital deformities of fingers -MONDO:0017461 familial isolated clinodactyly of fingers MONDO:8000030 Orphanet:295014 Orphanet:377791 obsolete morphological anomaly -MONDO:0017462 congenital pseudoarthrosis of the tibia MONDO:8000031 Orphanet:295018 Orphanet:557494 obsolete subtype of a disorder -MONDO:0017463 congenital pseudoarthrosis of the femur MONDO:8000031 Orphanet:295020 Orphanet:557494 obsolete subtype of a disorder -MONDO:0017464 congenital pseudoarthrosis of the fibula MONDO:8000031 Orphanet:295022 Orphanet:557494 obsolete subtype of a disorder -MONDO:0017465 congenital pseudoarthrosis of the radius MONDO:8000031 Orphanet:295024 Orphanet:557494 obsolete subtype of a disorder -MONDO:0017466 congenital pseudoarthrosis of the ulna MONDO:8000031 Orphanet:295026 Orphanet:557494 obsolete subtype of a disorder -MONDO:0017467 tibio-fibular synostosis MONDO:0017429 Orphanet:295028 Orphanet:294949 obsolete joint formation defects -MONDO:0017467 tibio-fibular synostosis MONDO:8000030 Orphanet:295028 Orphanet:377791 obsolete morphological anomaly -MONDO:0017468 congenital shoulder dislocation MONDO:0017430 Orphanet:295030 Orphanet:294951 obsolete non-syndromic congenital joint dislocations -MONDO:0017468 congenital shoulder dislocation MONDO:8000030 Orphanet:295030 Orphanet:377791 obsolete morphological anomaly -MONDO:0017469 congenital elbow dislocation MONDO:0017430 Orphanet:295032 Orphanet:294951 obsolete non-syndromic congenital joint dislocations -MONDO:0017469 congenital elbow dislocation MONDO:8000030 Orphanet:295032 Orphanet:377791 obsolete morphological anomaly -MONDO:0017470 congenital knee dislocation MONDO:0017430 Orphanet:295034 Orphanet:294951 obsolete non-syndromic congenital joint dislocations -MONDO:0017470 congenital knee dislocation MONDO:8000030 Orphanet:295034 Orphanet:377791 obsolete morphological anomaly -MONDO:0017471 congenital patella dislocation MONDO:0017430 Orphanet:295036 Orphanet:294951 obsolete non-syndromic congenital joint dislocations -MONDO:0017471 congenital patella dislocation MONDO:8000030 Orphanet:295036 Orphanet:377791 obsolete morphological anomaly -MONDO:0017474 macrodactyly of fingers MONDO:0017431 Orphanet:295044 Orphanet:294953 obsolete non-syndromic limb overgrowth -MONDO:0017474 macrodactyly of fingers MONDO:8000030 Orphanet:295044 Orphanet:377791 obsolete morphological anomaly -MONDO:0017475 macrodactyly of toes MONDO:0017431 Orphanet:295047 Orphanet:294953 obsolete non-syndromic limb overgrowth -MONDO:0017475 macrodactyly of toes MONDO:8000030 Orphanet:295047 Orphanet:377791 obsolete morphological anomaly -MONDO:0017476 upper limb hypertrophy MONDO:0017431 Orphanet:295049 Orphanet:294953 obsolete non-syndromic limb overgrowth -MONDO:0017476 upper limb hypertrophy MONDO:8000030 Orphanet:295049 Orphanet:377791 obsolete morphological anomaly -MONDO:0017477 lower limb hypertrophy MONDO:0017431 Orphanet:295051 Orphanet:294953 obsolete non-syndromic limb overgrowth -MONDO:0017477 lower limb hypertrophy MONDO:8000030 Orphanet:295051 Orphanet:377791 obsolete morphological anomaly -MONDO:0017543 zygodactyly type 2 MONDO:8000031 Orphanet:295189 Orphanet:557494 obsolete subtype of a disorder -MONDO:0017544 zygodactyly type 3 MONDO:8000031 Orphanet:295191 Orphanet:557494 obsolete subtype of a disorder -MONDO:0017545 zygodactyly type 4 MONDO:8000031 Orphanet:295193 Orphanet:557494 obsolete subtype of a disorder -MONDO:0017546 congenital vertical talus, unilateral MONDO:8000031 Orphanet:295201 Orphanet:557494 obsolete subtype of a disorder -MONDO:0017547 congenital vertical talus, bilateral MONDO:8000031 Orphanet:295203 Orphanet:557494 obsolete subtype of a disorder -MONDO:0017552 humero-ulnar synostosis, unilateral MONDO:8000031 Orphanet:295213 Orphanet:557494 obsolete subtype of a disorder -MONDO:0017553 humero-ulnar synostosis, bilateral MONDO:8000031 Orphanet:295215 Orphanet:557494 obsolete subtype of a disorder -MONDO:0017554 radio-ulnar synostosis, unilateral MONDO:8000031 Orphanet:295217 Orphanet:557494 obsolete subtype of a disorder -MONDO:0017555 radio-ulnar synostosis, bilateral MONDO:8000031 Orphanet:295219 Orphanet:557494 obsolete subtype of a disorder -MONDO:0017558 congenital elbow dislocation, unilateral MONDO:8000031 Orphanet:295225 Orphanet:557494 obsolete subtype of a disorder -MONDO:0017559 congenital elbow dislocation, bilateral MONDO:8000031 Orphanet:295227 Orphanet:557494 obsolete subtype of a disorder -MONDO:0017560 congenital genu recurvatum MONDO:8000031 Orphanet:295229 Orphanet:557494 obsolete subtype of a disorder -MONDO:0017561 congenital genu flexum MONDO:8000031 Orphanet:295232 Orphanet:557494 obsolete subtype of a disorder -MONDO:0017564 macrodactyly of fingers, unilateral MONDO:0035162 Orphanet:295239 Orphanet:530313 obsolete PIK3CA-related overgrowth syndrome -MONDO:0017564 macrodactyly of fingers, unilateral MONDO:8000031 Orphanet:295239 Orphanet:557494 obsolete subtype of a disorder -MONDO:0017565 macrodactyly of fingers, bilateral MONDO:8000031 Orphanet:295241 Orphanet:557494 obsolete subtype of a disorder -MONDO:0017566 macrodactyly of toes, unilateral MONDO:0035162 Orphanet:295243 Orphanet:530313 obsolete PIK3CA-related overgrowth syndrome -MONDO:0017566 macrodactyly of toes, unilateral MONDO:8000031 Orphanet:295243 Orphanet:557494 obsolete subtype of a disorder -MONDO:0017567 macrodactyly of toes, bilateral MONDO:8000031 Orphanet:295245 Orphanet:557494 obsolete subtype of a disorder -MONDO:0017568 Prata-Liberal-Goncalves syndrome MONDO:0800094 Orphanet:2956 Orphanet:498454 obsolete dysostosis with brachydactyly with extraskeletal manifestations -MONDO:0017568 Prata-Liberal-Goncalves syndrome MONDO:8000032 Orphanet:2956 Orphanet:377789 obsolete malformation syndrome -MONDO:0017569 de Barsy syndrome MONDO:0016133 Orphanet:2962 Orphanet:207018 obsolete rare hereditary metabolic disease with peripheral neuropathy -MONDO:0017569 de Barsy syndrome MONDO:0019058 Orphanet:2962 Orphanet:68385 obsolete neurometabolic disease -MONDO:0017569 de Barsy syndrome MONDO:0020215 Orphanet:2962 Orphanet:98628 obsolete syndromic corneal dystrophy -MONDO:0017569 de Barsy syndrome MONDO:0020228 Orphanet:2962 Orphanet:98644 obsolete cataract associated with a metabolic disease -MONDO:0017569 de Barsy syndrome MONDO:0035863 Orphanet:2962 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0017570 leukocyte adhesion deficiency MONDO:0020253 Orphanet:2968 Orphanet:98683 obsolete syndrome with a symptomatic strabismus -MONDO:0017571 Proteus-like syndrome MONDO:0017414 Orphanet:2969 Orphanet:294057 obsolete rare nevus -MONDO:0017571 Proteus-like syndrome MONDO:0020225 Orphanet:2969 Orphanet:98641 obsolete syndromic cataract -MONDO:0017572 tick-borne encephalitis MONDO:0015659 Orphanet:297 Orphanet:166490 obsolete infectious disease with epilepsy -MONDO:0017573 46,XX disorder of sex development-anorectal anomalies syndrome MONDO:0015246 Orphanet:2973 Orphanet:117573 obsolete syndromic anorectal malformation -MONDO:0017573 46,XX disorder of sex development-anorectal anomalies syndrome MONDO:0015846 Orphanet:2973 Orphanet:180148 obsolete syndromic uterovaginal malformation -MONDO:0017573 46,XX disorder of sex development-anorectal anomalies syndrome MONDO:0017965 Orphanet:2973 Orphanet:325109 obsolete syndrome with 46,XX disorder of sex development -MONDO:0017573 46,XX disorder of sex development-anorectal anomalies syndrome MONDO:8000032 Orphanet:2973 Orphanet:377789 obsolete malformation syndrome -MONDO:0017574 chronic intestinal pseudoobstruction MONDO:0015184 Orphanet:2978 Orphanet:104009 obsolete rare disease involving intestinal motility -MONDO:0017574 chronic intestinal pseudoobstruction MONDO:0032013 Orphanet:2978 Orphanet:377792 obsolete clinical syndrome -MONDO:0017575 mitochondrial neurogastrointestinal encephalomyopathy MONDO:0015188 Orphanet:298 Orphanet:104013 obsolete metabolic disorder with intestinal involvement -MONDO:0017575 mitochondrial neurogastrointestinal encephalomyopathy MONDO:0016402 Orphanet:298 Orphanet:225700 obsolete mitochondrial disease with epilepsy -MONDO:0017575 mitochondrial neurogastrointestinal encephalomyopathy MONDO:0016403 Orphanet:298 Orphanet:225703 obsolete mitochondrial disease with peripheral neuropathy -MONDO:0017575 mitochondrial neurogastrointestinal encephalomyopathy MONDO:0020169 Orphanet:298 Orphanet:98578 obsolete rare disorder with ptosis -MONDO:0017575 mitochondrial neurogastrointestinal encephalomyopathy MONDO:0035862 Orphanet:298 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome -MONDO:0017577 spontaneous periodic hypothermia MONDO:0020009 Orphanet:29822 Orphanet:98006 obsolete rare neurologic disease -MONDO:0017579 Baraitser-Winter cerebrofrontofacial syndrome MONDO:0015147 Orphanet:2995 Orphanet:102010 obsolete other syndrome with lissencephaly as a major feature -MONDO:0017579 Baraitser-Winter cerebrofrontofacial syndrome MONDO:0020169 Orphanet:2995 Orphanet:98578 obsolete rare disorder with ptosis -MONDO:0017579 Baraitser-Winter cerebrofrontofacial syndrome MONDO:8000032 Orphanet:2995 Orphanet:377789 obsolete malformation syndrome -MONDO:0017580 11p15.4 microduplication syndrome MONDO:0035863 Orphanet:300305 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0017580 11p15.4 microduplication syndrome MONDO:8000032 Orphanet:300305 Orphanet:377789 obsolete malformation syndrome MONDO:0017581 obsolete familial infantile gigantism MONDO:0000001 Orphanet:300373 Orphanet:377788 disease -MONDO:0017581 obsolete familial infantile gigantism MONDO:0015889 Orphanet:300373 Orphanet:181384 obsolete rare hypothalamic or pituitary disease -MONDO:0017581 obsolete familial infantile gigantism MONDO:0015968 Orphanet:300373 Orphanet:183628 obsolete rare genetic hypothalamic or pituitary disease -MONDO:0017583 mirror polydactyly-vertebral segmentation-limbs defects syndrome MONDO:0017434 Orphanet:3004 Orphanet:294959 obsolete syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy -MONDO:0017583 mirror polydactyly-vertebral segmentation-limbs defects syndrome MONDO:8000032 Orphanet:3004 Orphanet:377789 obsolete malformation syndrome -MONDO:0017584 Sagliker syndrome MONDO:0019684 Orphanet:300493 Orphanet:93419 obsolete rare bone disease -MONDO:0017584 Sagliker syndrome MONDO:0032014 Orphanet:300493 Orphanet:377793 obsolete particular clinical situation in a disease or syndrome -MONDO:0017585 painful orbital and systemic neurofibromas-marfanoid habitus syndrome MONDO:8000032 Orphanet:300501 Orphanet:377789 obsolete malformation syndrome -MONDO:0017588 nail tumor MONDO:0019300 Orphanet:300515 Orphanet:79386 obsolete rare skin tumor or hamartoma -MONDO:0017589 follicular cholangitis and pancreatitis MONDO:0015112 Orphanet:300552 Orphanet:101937 obsolete rare pancreatic disease -MONDO:0017589 follicular cholangitis and pancreatitis MONDO:0015116 Orphanet:300552 Orphanet:101941 obsolete rare biliary tract disease -MONDO:0017590 carcinoma of the ampulla of vater MONDO:0019997 Orphanet:300557 Orphanet:97935 obsolete rare gastroenterologic disease -MONDO:0017590 carcinoma of the ampulla of vater MONDO:0020033 Orphanet:300557 Orphanet:98059 obsolete rare digestive tumor -MONDO:0017592 staphylococcal toxemia MONDO:0015575 Orphanet:300579 Orphanet:163582 obsolete rare bacterial infectious disease -MONDO:0017602 ALK-positive anaplastic large cell lymphoma MONDO:8000031 Orphanet:300895 Orphanet:557494 obsolete subtype of a disorder -MONDO:0017603 ALK-negative anaplastic large cell lymphoma MONDO:8000031 Orphanet:300903 Orphanet:557494 obsolete subtype of a disorder -MONDO:0017607 caudal regression sequence MONDO:0017085 Orphanet:3027 Orphanet:268843 obsolete malformation of the neurenteric canal, spinal cord and column -MONDO:0017607 caudal regression sequence MONDO:0019721 Orphanet:3027 Orphanet:93547 obsolete syndromic renal or urinary tract malformation -MONDO:0017607 caudal regression sequence MONDO:8000032 Orphanet:3027 Orphanet:377789 obsolete malformation syndrome -MONDO:0017609 renal tubular dysgenesis MONDO:0019720 Orphanet:3033 Orphanet:93546 obsolete non-syndromic renal or urinary tract malformation -MONDO:0017609 renal tubular dysgenesis MONDO:8000032 Orphanet:3033 Orphanet:377789 obsolete malformation syndrome -MONDO:0017611 pituitary tumor MONDO:0015936 Orphanet:304055 Orphanet:182130 obsolete rare tumor of endocrine glands -MONDO:0017612 junctional epidermolysis bullosa MONDO:0015331 Orphanet:305 Orphanet:139027 obsolete malformation syndrome with skin/mucosae involvement -MONDO:0017614 X-linked intellectual disability-hypogonadism-ichthyosis-obesity-short stature syndrome MONDO:0020253 Orphanet:3055 Orphanet:98683 obsolete syndrome with a symptomatic strabismus -MONDO:0017614 X-linked intellectual disability-hypogonadism-ichthyosis-obesity-short stature syndrome MONDO:0029102 Orphanet:3055 Orphanet:281244 obsolete autosomal ichthyosis syndrome with other associated signs -MONDO:0017614 X-linked intellectual disability-hypogonadism-ichthyosis-obesity-short stature syndrome MONDO:0035863 Orphanet:3055 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0017614 X-linked intellectual disability-hypogonadism-ichthyosis-obesity-short stature syndrome MONDO:8000032 Orphanet:3055 Orphanet:377789 obsolete malformation syndrome -MONDO:0017615 benign familial infantile epilepsy MONDO:0015654 Orphanet:306 Orphanet:166475 obsolete idiopathic or cryptogenic familial epilepsy syndrome with identified loci/genes -MONDO:0017623 PTEN hamartoma tumor syndrome MONDO:0015945 Orphanet:306498 Orphanet:183422 obsolete polymalformative genetic syndrome with increased risk of developing cancer -MONDO:0017623 PTEN hamartoma tumor syndrome MONDO:0015950 Orphanet:306498 Orphanet:183487 obsolete inherited skin tumor -MONDO:0017623 PTEN hamartoma tumor syndrome MONDO:0019300 Orphanet:306498 Orphanet:79386 obsolete rare skin tumor or hamartoma -MONDO:0017623 PTEN hamartoma tumor syndrome MONDO:0020063 Orphanet:306498 Orphanet:98196 obsolete malformation syndrome with hamartosis -MONDO:0017624 familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis MONDO:0019744 Orphanet:306516 Orphanet:93603 obsolete rare renal tubular disease -MONDO:0017627 congenital hereditary facial paralysis-variable hearing loss syndrome MONDO:0015499 Orphanet:306530 Orphanet:156224 obsolete paralytic facial malformation -MONDO:0017627 congenital hereditary facial paralysis-variable hearing loss syndrome MONDO:0020132 Orphanet:306530 Orphanet:98518 obsolete cranial nerve and nuclear aplasia -MONDO:0017627 congenital hereditary facial paralysis-variable hearing loss syndrome MONDO:8000030 Orphanet:306530 Orphanet:377791 obsolete morphological anomaly -MONDO:0017628 myospherulosis MONDO:0015621 Orphanet:306553 Orphanet:165711 obsolete rare abdominal surgical disease -MONDO:0017628 myospherulosis MONDO:0019038 Orphanet:306553 Orphanet:68329 obsolete rare maxillo-facial surgical disease MONDO:0017629 obsolete sodium channelopathy-related small fiber neuropathy MONDO:0000001 Orphanet:306577 Orphanet:377788 disease -MONDO:0017629 obsolete sodium channelopathy-related small fiber neuropathy MONDO:0020127 Orphanet:306577 Orphanet:98497 hereditary peripheral neuropathy -MONDO:0017630 X-linked complicated spastic paraplegia type 1 MONDO:8000031 Orphanet:306617 Orphanet:557494 obsolete subtype of a disorder -MONDO:0017631 obsolete rare tumor of gallbladder and extrahepatic biliary tract MONDO:0015117 Orphanet:306633 Orphanet:101943 obsolete rare hepatic and biliary tract tumor -MONDO:0017632 obsolete rare tumor of liver and intrahepatic biliary tract MONDO:0015117 Orphanet:306636 Orphanet:101943 obsolete rare hepatic and biliary tract tumor -MONDO:0017633 obsolete rare intoxication due to medical products MONDO:0015224 Orphanet:306640 Orphanet:108999 obsolete rare intoxication -MONDO:0017635 obsolete parkinsonian syndrome due to neurodegenerative disease MONDO:0019059 Orphanet:306666 Orphanet:68402 obsolete rare parkinsonian disorder -MONDO:0017636 hemiparkinsonism-hemiatrophy syndrome MONDO:0017635 Orphanet:306669 Orphanet:306666 obsolete parkinsonian syndrome due to neurodegenerative disease -MONDO:0017636 hemiparkinsonism-hemiatrophy syndrome MONDO:0017661 Orphanet:306669 Orphanet:307055 obsolete rare parkinsonian syndrome due to genetic neurodegenerative disease -MONDO:0017637 obsolete rare parkinsonian syndrome due to intoxication MONDO:0019059 Orphanet:306679 Orphanet:68402 obsolete rare parkinsonian disorder -MONDO:0017638 manganese poisoning MONDO:0017637 Orphanet:306682 Orphanet:306679 obsolete rare parkinsonian syndrome due to intoxication -MONDO:0017638 manganese poisoning MONDO:0035328 Orphanet:306682 Orphanet:556508 obsolete rare disorder due to poisoning -MONDO:0017639 carbon monoxide-induced parkinsonism MONDO:0017637 Orphanet:306686 Orphanet:306679 obsolete rare parkinsonian syndrome due to intoxication -MONDO:0017639 carbon monoxide-induced parkinsonism MONDO:0035328 Orphanet:306686 Orphanet:556508 obsolete rare disorder due to poisoning -MONDO:0017640 cyanide-induced parkinsonism MONDO:0017637 Orphanet:306692 Orphanet:306679 obsolete rare parkinsonian syndrome due to intoxication -MONDO:0017640 cyanide-induced parkinsonism MONDO:0035328 Orphanet:306692 Orphanet:556508 obsolete rare disorder due to poisoning -MONDO:0017641 obsolete miscellaneous movement disorder due to neurodegenerative disease MONDO:0015143 Orphanet:306695 Orphanet:102003 obsolete rare movement disorder -MONDO:0017643 obsolete frontotemporal neurodegeneration with movement disorder MONDO:0017641 Orphanet:306708 Orphanet:306695 obsolete miscellaneous movement disorder due to neurodegenerative disease -MONDO:0017643 obsolete frontotemporal neurodegeneration with movement disorder MONDO:0017662 Orphanet:306708 Orphanet:307058 obsolete miscellaneous movement disorder due to genetic neurodegenerative disease -MONDO:0017644 obsolete rare tremor disorder MONDO:0044636 Orphanet:306712 Orphanet:494457 obsolete rare hyperkinetic movement disorder -MONDO:0017645 obsolete rare choreic movement disorder MONDO:0044636 Orphanet:306715 Orphanet:494457 obsolete rare hyperkinetic movement disorder -MONDO:0017646 obsolete neurodegenerative disease with chorea MONDO:0017645 Orphanet:306719 Orphanet:306715 obsolete rare choreic movement disorder -MONDO:0017646 obsolete neurodegenerative disease with chorea MONDO:0034641 Orphanet:306719 Orphanet:496916 obsolete rare genetic hyperkinetic movement disorder -MONDO:0017647 obsolete postinfectious autoimmune disease with chorea MONDO:0017645 Orphanet:306727 Orphanet:306715 obsolete rare choreic movement disorder -MONDO:0017648 Sydenham chorea MONDO:0017647 Orphanet:306731 Orphanet:306727 obsolete postinfectious autoimmune disease with chorea -MONDO:0017648 Sydenham chorea MONDO:0032014 Orphanet:306731 Orphanet:377793 obsolete particular clinical situation in a disease or syndrome -MONDO:0017649 hemidystonia-hemiatrophy syndrome MONDO:0019049 Orphanet:306741 Orphanet:68363 obsolete rare dystonia -MONDO:0017650 obsolete rare myoclonus MONDO:0044636 Orphanet:306747 Orphanet:494457 obsolete rare hyperkinetic movement disorder -MONDO:0017651 obsolete primary myoclonus MONDO:0017650 Orphanet:306750 Orphanet:306747 obsolete rare myoclonus -MONDO:0017651 obsolete primary myoclonus MONDO:0017663 Orphanet:306750 Orphanet:307064 obsolete inherited tremor disorder -MONDO:0017652 obsolete rare disease with myoclonus as a major feature MONDO:0017650 Orphanet:306753 Orphanet:306747 obsolete rare myoclonus -MONDO:0017653 obsolete epilepsy and/or ataxia with myoclonus as major feature MONDO:0017652 Orphanet:306756 Orphanet:306753 obsolete rare disease with myoclonus as a major feature -MONDO:0017653 obsolete epilepsy and/or ataxia with myoclonus as major feature MONDO:0017665 Orphanet:306756 Orphanet:307067 obsolete rare genetic disease with myoclonus as a major feature -MONDO:0017654 obsolete non progressive epilepsy and/or ataxia with myoclonus as a major feature MONDO:0017653 Orphanet:306759 Orphanet:306756 obsolete epilepsy and/or ataxia with myoclonus as major feature -MONDO:0017656 obsolete motor stereotypies MONDO:0034641 Orphanet:306765 Orphanet:496916 obsolete rare genetic hyperkinetic movement disorder -MONDO:0017656 obsolete motor stereotypies MONDO:0044636 Orphanet:306765 Orphanet:494457 obsolete rare hyperkinetic movement disorder -MONDO:0017657 obsolete rare paroxysmal movement disorder MONDO:0015143 Orphanet:306768 Orphanet:102003 obsolete rare movement disorder -MONDO:0017657 obsolete rare paroxysmal movement disorder MONDO:0015957 Orphanet:306768 Orphanet:183521 obsolete rare genetic movement disorder -MONDO:0017658 hyperekplexia MONDO:0015143 Orphanet:306773 Orphanet:102003 obsolete rare movement disorder -MONDO:0017660 obsolete rare genetic parkinsonian disorder MONDO:0015957 Orphanet:307052 Orphanet:183521 obsolete rare genetic movement disorder -MONDO:0017661 obsolete rare parkinsonian syndrome due to genetic neurodegenerative disease MONDO:0017660 Orphanet:307055 Orphanet:307052 obsolete rare genetic parkinsonian disorder -MONDO:0017662 obsolete miscellaneous movement disorder due to genetic neurodegenerative disease MONDO:0015957 Orphanet:307058 Orphanet:183521 obsolete rare genetic movement disorder -MONDO:0017663 obsolete inherited tremor disorder MONDO:0034641 Orphanet:307061 Orphanet:496916 obsolete rare genetic hyperkinetic movement disorder -MONDO:0017663 obsolete inherited tremor disorder MONDO:0034641 Orphanet:307064 Orphanet:496916 obsolete rare genetic hyperkinetic movement disorder -MONDO:0017665 obsolete rare genetic disease with myoclonus as a major feature MONDO:0017663 Orphanet:307067 Orphanet:307064 obsolete inherited tremor disorder -MONDO:0017667 obsolete isolated diffuse palmoplantar keratoderma MONDO:0017666 Orphanet:307148 Orphanet:307141 diffuse palmoplantar keratoderma -MONDO:0017668 intellectual disability-short stature-hypertelorism syndrome MONDO:0035863 Orphanet:3074 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0017668 intellectual disability-short stature-hypertelorism syndrome MONDO:8000032 Orphanet:3074 Orphanet:377789 obsolete malformation syndrome -MONDO:0017669 obsolete disease with diffuse palmoplantar keratoderma as a major feature MONDO:0017666 Orphanet:307711 Orphanet:307141 diffuse palmoplantar keratoderma -MONDO:0017670 obsolete autosomal dominant diffuse mutilating palmoplantar keratoderma MONDO:0020094 Orphanet:307773 Orphanet:98352 obsolete autosomal dominant disease with diffuse palmoplantar keratoderma as a major feature -MONDO:0017671 obsolete autosomal recessive disease with diffuse palmoplantar keratoderma as a major feature MONDO:0017669 Orphanet:307804 Orphanet:307711 obsolete disease with diffuse palmoplantar keratoderma as a major feature -MONDO:0017673 obsolete isolated focal palmoplantar keratoderma MONDO:0017672 Orphanet:307846 Orphanet:307837 focal palmoplantar keratoderma -MONDO:0017674 obsolete disease with focal palmoplantar keratoderma as a major feature MONDO:0017672 Orphanet:307871 Orphanet:307837 focal palmoplantar keratoderma -MONDO:0017676 obsolete marginal papular palmoplantar keratoderma MONDO:0016518 Orphanet:307995 Orphanet:2338 obsolete isolated punctate palmoplantar keratoderma -MONDO:0017677 focal acral hyperkeratosis MONDO:0017676 Orphanet:308013 Orphanet:307995 obsolete marginal papular palmoplantar keratoderma -MONDO:0017678 obsolete obsolete disease with punctate palmoplantar keratoderma as a major feature MONDO:0017675 Orphanet:308023 Orphanet:307967 punctate palmoplantar keratoderma -MONDO:0017679 obsolete obsolete autosomal dominant disease associated with punctate palmoplantar keratoderma as a major feature MONDO:0017678 Orphanet:308031 Orphanet:308023 obsolete obsolete disease with punctate palmoplantar keratoderma as a major feature -MONDO:0017680 obsolete autosomal recessive disease associated with punctate palmoplantar keratoderma as a major feature MONDO:0017678 Orphanet:308041 Orphanet:308023 obsolete obsolete disease with punctate palmoplantar keratoderma as a major feature -MONDO:0017681 erythrokeratoderma variabilis progressiva MONDO:0026150 Orphanet:308166 Orphanet:183438 obsolete genetic erythrokeratoderma -MONDO:0017682 intellectual disability-polydactyly-uncombable hair syndrome MONDO:0035863 Orphanet:3082 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0017682 intellectual disability-polydactyly-uncombable hair syndrome MONDO:8000032 Orphanet:3082 Orphanet:377789 obsolete malformation syndrome -MONDO:0017683 methylcobalamin deficiency type cblDv1 MONDO:8000031 Orphanet:308380 Orphanet:557494 obsolete subtype of a disorder -MONDO:0017685 vitamin B12-responsive methylmalonic acidemia, type cblDv2 MONDO:8000031 Orphanet:308442 Orphanet:557494 obsolete subtype of a disorder -MONDO:0017686 inborn aminoacylase deficiency MONDO:0019213 Orphanet:308448 Orphanet:79158 obsolete cerebral organic aciduria -MONDO:0017691 erythrocyte galactose epimerase deficiency MONDO:8000031 Orphanet:308473 Orphanet:557494 obsolete subtype of a disorder -MONDO:0017692 generalized galactose epimerase deficiency MONDO:8000031 Orphanet:308487 Orphanet:557494 obsolete subtype of a disorder -MONDO:0017693 obsolete glycogen storage disease due to glycogen synthase deficiency MONDO:0002412 Orphanet:308520 Orphanet:79201 disorder of glycogen metabolism -MONDO:0017694 glycogen storage disease due to acid maltase deficiency, infantile onset MONDO:8000031 Orphanet:308552 Orphanet:557494 obsolete subtype of a disorder -MONDO:0017695 glycogen storage disease due to glycogen branching enzyme deficiency, progressive hepatic form MONDO:8000031 Orphanet:308621 Orphanet:557494 obsolete subtype of a disorder -MONDO:0017696 glycogen storage disease due to glycogen branching enzyme deficiency, non progressive hepatic form MONDO:8000031 Orphanet:308638 Orphanet:557494 obsolete subtype of a disorder -MONDO:0017697 glycogen storage disease due to glycogen branching enzyme deficiency, fatal perinatal neuromuscular form MONDO:8000031 Orphanet:308655 Orphanet:557494 obsolete subtype of a disorder -MONDO:0017698 glycogen storage disease due to glycogen branching enzyme deficiency, congenital neuromuscular form MONDO:8000031 Orphanet:308670 Orphanet:557494 obsolete subtype of a disorder -MONDO:0017699 glycogen storage disease due to glycogen branching enzyme deficiency, childhood combined hepatic and myopathic form MONDO:8000031 Orphanet:308684 Orphanet:557494 obsolete subtype of a disorder -MONDO:0017700 glycogen storage disease due to glycogen branching enzyme deficiency, childhood neuromuscular form MONDO:8000031 Orphanet:308698 Orphanet:557494 obsolete subtype of a disorder -MONDO:0017701 glycogen storage disease due to glycogen branching enzyme deficiency, adult neuromuscular form MONDO:8000031 Orphanet:308712 Orphanet:557494 obsolete subtype of a disorder -MONDO:0017704 familial partial epilepsy MONDO:0015654 Orphanet:309 Orphanet:166475 obsolete idiopathic or cryptogenic familial epilepsy syndrome with identified loci/genes -MONDO:0017704 familial partial epilepsy MONDO:0015922 Orphanet:309 Orphanet:182083 obsolete channelopathy with epilepsy -MONDO:0017708 mevalonate kinase deficiency MONDO:0017370 Orphanet:309025 Orphanet:290842 obsolete autoinflammatory syndrome with skin involvement -MONDO:0017709 obsolete disorder of lipid absorption and transport MONDO:0002525 Orphanet:309028 Orphanet:309005 inherited lipid metabolism disorder -MONDO:0017709 obsolete disorder of lipid absorption and transport MONDO:0015112 Orphanet:309028 Orphanet:101937 obsolete rare pancreatic disease -MONDO:0017709 obsolete disorder of lipid absorption and transport MONDO:0015618 Orphanet:309028 Orphanet:165661 obsolete genetic pancreatic disease -MONDO:0017710 obsolete congenital systemic veins anomaly MONDO:0018185 Orphanet:3091 Orphanet:363189 obsolete congenital anomaly of the great veins -MONDO:0017711 pancreatic colipase deficiency MONDO:0017709 Orphanet:309108 Orphanet:309028 obsolete disorder of lipid absorption and transport -MONDO:0017712 combined pancreatic lipase-colipase deficiency MONDO:0017709 Orphanet:309111 Orphanet:309028 obsolete disorder of lipid absorption and transport -MONDO:0017717 obsolete metabolic disease due to other fatty acid oxidation disorder MONDO:0019223 Orphanet:309133 Orphanet:79174 disorder of fatty acid and ketone body metabolism -MONDO:0017718 obsolete mitochondrial disorder due to a defect in assembly or maturation of the respiratory chain complexes MONDO:0016578 Orphanet:309136 Orphanet:2443 obsolete mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies -MONDO:0017719 gangliosidosis MONDO:0018299 Orphanet:309144 Orphanet:371442 obsolete sphingolipidosis with epilepsy -MONDO:0017720 GM2 gangliosidosis MONDO:0015918 Orphanet:309152 Orphanet:182070 obsolete rare neurodegenerative disease -MONDO:0017720 GM2 gangliosidosis MONDO:0019058 Orphanet:309152 Orphanet:68385 obsolete neurometabolic disease -MONDO:0017721 Sandhoff disease, infantile form MONDO:8000031 Orphanet:309155 Orphanet:557494 obsolete subtype of a disorder -MONDO:0017722 Sandhoff disease, juvenile form MONDO:8000031 Orphanet:309162 Orphanet:557494 obsolete subtype of a disorder -MONDO:0017723 Sandhoff disease, adult form MONDO:8000031 Orphanet:309169 Orphanet:557494 obsolete subtype of a disorder -MONDO:0017724 Tay-Sachs disease, b variant, infantile form MONDO:8000031 Orphanet:309178 Orphanet:557494 obsolete subtype of a disorder -MONDO:0017725 Tay-Sachs disease, b variant, juvenile form MONDO:8000031 Orphanet:309185 Orphanet:557494 obsolete subtype of a disorder -MONDO:0017726 Tay-Sachs disease, B variant, adult form MONDO:8000031 Orphanet:309192 Orphanet:557494 obsolete subtype of a disorder -MONDO:0017727 fixed subaortic stenosis MONDO:0020286 Orphanet:3092 Orphanet:98718 obsolete aortic malformation -MONDO:0017727 fixed subaortic stenosis MONDO:8000030 Orphanet:3092 Orphanet:377791 obsolete morphological anomaly -MONDO:0017728 Tay-Sachs disease, B1 variant MONDO:8000031 Orphanet:309239 Orphanet:557494 obsolete subtype of a disorder -MONDO:0017729 metachromatic leukodystrophy, late infantile form MONDO:8000031 Orphanet:309256 Orphanet:557494 obsolete subtype of a disorder -MONDO:0017730 metachromatic leukodystrophy, adult form MONDO:8000031 Orphanet:309271 Orphanet:557494 obsolete subtype of a disorder -MONDO:0017732 alpha-mannosidosis, infantile form MONDO:8000031 Orphanet:309282 Orphanet:557494 obsolete subtype of a disorder -MONDO:0017733 alpha-mannosidosis, adult form MONDO:8000031 Orphanet:309288 Orphanet:557494 obsolete subtype of a disorder -MONDO:0017734 sialidosis MONDO:0034953 Orphanet:309294 Orphanet:519325 obsolete syndromic inherited retinal disorder -MONDO:0017735 congenital aortic valve stenosis MONDO:0020286 Orphanet:3093 Orphanet:98718 obsolete aortic malformation -MONDO:0017735 congenital aortic valve stenosis MONDO:0020293 Orphanet:3093 Orphanet:98725 obsolete ascending aorta anomaly -MONDO:0017735 congenital aortic valve stenosis MONDO:8000030 Orphanet:3093 Orphanet:377791 obsolete morphological anomaly -MONDO:0017737 intermediate severe Salla disease MONDO:8000031 Orphanet:309331 Orphanet:557494 obsolete subtype of a disorder -MONDO:0017742 obsolete disorder of O-xylosylglycan synthesis MONDO:0017741 Orphanet:309450 Orphanet:309447 disorder of protein O-glycosylation -MONDO:0017743 obsolete disorder of O-N-acetylgalactosaminylglycan synthesis MONDO:0017741 Orphanet:309458 Orphanet:309447 disorder of protein O-glycosylation -MONDO:0017744 obsolete disorder of O-xylosyl/N-acetylgalactosaminylglycan synthesis MONDO:0017741 Orphanet:309463 Orphanet:309447 disorder of protein O-glycosylation -MONDO:0017745 obsolete disorder of O-mannosylglycan synthesis MONDO:0017741 Orphanet:309469 Orphanet:309447 disorder of protein O-glycosylation -MONDO:0017746 atypical Rett syndrome MONDO:0015680 Orphanet:3095 Orphanet:168778 obsolete rare pervasive developmental disorder -MONDO:0017746 atypical Rett syndrome MONDO:0017656 Orphanet:3095 Orphanet:306765 obsolete motor stereotypies -MONDO:0017746 atypical Rett syndrome MONDO:0035862 Orphanet:3095 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome -MONDO:0017753 obsolete disorder of peroxisomal alpha-, beta- and omega-oxidation MONDO:0019053 Orphanet:309810 Orphanet:68373 peroxisomal disease -MONDO:0017756 obsolete disorder of pterin metabolism MONDO:0019058 Orphanet:309819 Orphanet:68385 obsolete neurometabolic disease -MONDO:0017756 obsolete disorder of pterin metabolism MONDO:0019219 Orphanet:309819 Orphanet:79169 inborn disorder of neurotransmitter metabolism and transport -MONDO:0017760 obsolete disorder of other vitamins and cofactors metabolism and transport MONDO:0017758 Orphanet:309833 Orphanet:309827 disorder of vitamin and non-protein cofactor absorption and transport -MONDO:0017769 acquired immunodeficiency MONDO:0020008 Orphanet:310050 Orphanet:98004 obsolete rare immune disease -MONDO:0017771 Mayer-Rokitansky-Kuster-Hauser syndrome MONDO:0018403 Orphanet:3109 Orphanet:399882 obsolete female infertility due to an implantation defect -MONDO:0017771 Mayer-Rokitansky-Kuster-Hauser syndrome MONDO:0018414 Orphanet:3109 Orphanet:400025 obsolete female infertility due to an implantation defect of genetic origin -MONDO:0017771 Mayer-Rokitansky-Kuster-Hauser syndrome MONDO:0019721 Orphanet:3109 Orphanet:93547 obsolete syndromic renal or urinary tract malformation -MONDO:0017771 Mayer-Rokitansky-Kuster-Hauser syndrome MONDO:8000032 Orphanet:3109 Orphanet:377789 obsolete malformation syndrome -MONDO:0017773 hypoalphalipoproteinemia MONDO:0015904 Orphanet:31153 Orphanet:181431 obsolete rare hypolipidemia -MONDO:0017774 hypobetalipoproteinemia MONDO:0015904 Orphanet:31154 Orphanet:181431 obsolete rare hypolipidemia -MONDO:0017775 melioidosis MONDO:0015575 Orphanet:31202 Orphanet:163582 obsolete rare bacterial infectious disease -MONDO:0017776 nocardiosis MONDO:0015575 Orphanet:31204 Orphanet:163582 obsolete rare bacterial infectious disease -MONDO:0017779 alpha-N-acetylgalactosaminidase deficiency MONDO:0016397 Orphanet:3137 Orphanet:225681 obsolete lysosomal disease with epilepsy -MONDO:0017779 alpha-N-acetylgalactosaminidase deficiency MONDO:0019058 Orphanet:3137 Orphanet:68385 obsolete neurometabolic disease -MONDO:0017779 alpha-N-acetylgalactosaminidase deficiency MONDO:0020225 Orphanet:3137 Orphanet:98641 obsolete syndromic cataract -MONDO:0017779 alpha-N-acetylgalactosaminidase deficiency MONDO:0035862 Orphanet:3137 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome -MONDO:0017780 20p13 microdeletion syndrome MONDO:0035863 Orphanet:313781 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0017780 20p13 microdeletion syndrome MONDO:8000032 Orphanet:313781 Orphanet:377789 obsolete malformation syndrome -MONDO:0017781 12p12.1 microdeletion syndrome MONDO:8000031 Orphanet:313884 Orphanet:557494 obsolete subtype of a disorder -MONDO:0017782 developmental and speech delay due to SOX5 deficiency MONDO:8000031 Orphanet:313892 Orphanet:557494 obsolete subtype of a disorder -MONDO:0017783 congenital pancreatic cyst MONDO:0015112 Orphanet:313906 Orphanet:101937 obsolete rare pancreatic disease -MONDO:0017783 congenital pancreatic cyst MONDO:8000030 Orphanet:313906 Orphanet:377791 obsolete morphological anomaly -MONDO:0017784 Epstein-Barr virus-associated gastric carcinoma MONDO:0018501 Orphanet:313920 Orphanet:423771 obsolete rare carcinoma of stomach -MONDO:0017785 PENS syndrome MONDO:0017414 Orphanet:313936 Orphanet:294057 obsolete rare nevus -MONDO:0017786 2q23.1 microduplication syndrome MONDO:0035863 Orphanet:313947 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0017786 2q23.1 microduplication syndrome MONDO:8000032 Orphanet:313947 Orphanet:377789 obsolete malformation syndrome -MONDO:0017787 erythroderma desquamativum MONDO:0019305 Orphanet:314 Orphanet:79391 obsolete immune deficiency with skin involvement -MONDO:0017787 erythroderma desquamativum MONDO:0026166 Orphanet:314 Orphanet:183494 obsolete genetic immune deficiency with skin involvement -MONDO:0017788 contractures - webbed neck - micrognathia - hypoplastic nipples syndrome MONDO:0043008 Orphanet:314002 Orphanet:330206 obsolete genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability -MONDO:0017788 contractures - webbed neck - micrognathia - hypoplastic nipples syndrome MONDO:8000032 Orphanet:314002 Orphanet:377789 obsolete malformation syndrome -MONDO:0017791 high bone mass osteogenesis imperfecta MONDO:0800084 Orphanet:314029 Orphanet:93444 obsolete primary bone dysplasia with increased bone density -MONDO:0017792 7p22.1 microduplication syndrome MONDO:0035863 Orphanet:314034 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0017792 7p22.1 microduplication syndrome MONDO:8000032 Orphanet:314034 Orphanet:377789 obsolete malformation syndrome -MONDO:0017793 marfanoid habitus-inguinal hernia-advanced bone age syndrome MONDO:0015332 Orphanet:314041 Orphanet:139030 obsolete rare developmental defect with connective tissue involvement -MONDO:0017793 marfanoid habitus-inguinal hernia-advanced bone age syndrome MONDO:8000032 Orphanet:314041 Orphanet:377789 obsolete malformation syndrome -MONDO:0017794 Xq12-q13.3 duplication syndrome MONDO:0015878 Orphanet:314389 Orphanet:180772 obsolete rare disease with autism -MONDO:0017794 Xq12-q13.3 duplication syndrome MONDO:8000032 Orphanet:314389 Orphanet:377789 obsolete malformation syndrome -MONDO:0017795 ameloblastoma MONDO:0017797 Orphanet:314419 Orphanet:314425 obsolete rare odontologic tumor -MONDO:0017797 obsolete rare odontologic tumor MONDO:0017371 Orphanet:314425 Orphanet:290849 obsolete rare head and neck tumor -MONDO:0017797 obsolete rare odontologic tumor MONDO:0020013 Orphanet:314425 Orphanet:98026 obsolete rare odontologic disease -MONDO:0017798 Spigelian hernia-cryptorchidism syndrome MONDO:0015216 Orphanet:314432 Orphanet:108979 obsolete syndromic diaphragmatic or abdominal wall malformation -MONDO:0017798 Spigelian hernia-cryptorchidism syndrome MONDO:8000032 Orphanet:314432 Orphanet:377789 obsolete malformation syndrome -MONDO:0017799 Meigs syndrome MONDO:0019965 Orphanet:314451 Orphanet:97293 obsolete rare benign ovarian tumor -MONDO:0017799 Meigs syndrome MONDO:0032013 Orphanet:314451 Orphanet:377792 obsolete clinical syndrome -MONDO:0017800 pseudo-Meigs syndrome MONDO:0019965 Orphanet:314459 Orphanet:97293 obsolete rare benign ovarian tumor -MONDO:0017800 pseudo-Meigs syndrome MONDO:0032013 Orphanet:314459 Orphanet:377792 obsolete clinical syndrome -MONDO:0017801 atypical Meigs syndrome MONDO:0019965 Orphanet:314466 Orphanet:97293 obsolete rare benign ovarian tumor -MONDO:0017801 atypical Meigs syndrome MONDO:0032013 Orphanet:314466 Orphanet:377792 obsolete clinical syndrome -MONDO:0017802 ovarian fibrothecoma MONDO:0019965 Orphanet:314478 Orphanet:97293 obsolete rare benign ovarian tumor -MONDO:0017803 primary progressive apraxia of speech MONDO:0015918 Orphanet:314566 Orphanet:182070 obsolete rare neurodegenerative disease -MONDO:0017804 autosomal recessive leukoencephalopathy-ischemic stroke-retinitis pigmentosa syndrome MONDO:0018787 Orphanet:314572 Orphanet:477754 obsolete genetic cerebral small vessel disease -MONDO:0017804 autosomal recessive leukoencephalopathy-ischemic stroke-retinitis pigmentosa syndrome MONDO:0020240 Orphanet:314572 Orphanet:98661 obsolete syndromic retinitis pigmentosa -MONDO:0017805 intellectual disability-hypotonia-brachycephaly-pyloric stenosis-cryptorchidism syndrome MONDO:0035863 Orphanet:314575 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0017805 intellectual disability-hypotonia-brachycephaly-pyloric stenosis-cryptorchidism syndrome MONDO:8000032 Orphanet:314575 Orphanet:377789 obsolete malformation syndrome -MONDO:0017806 15q overgrowth syndrome MONDO:0019717 Orphanet:314585 Orphanet:93461 obsolete chromosomal disease with overgrowth -MONDO:0017806 15q overgrowth syndrome MONDO:0020226 Orphanet:314585 Orphanet:98642 obsolete chromosomal anomaly with cataract -MONDO:0017806 15q overgrowth syndrome MONDO:0035863 Orphanet:314585 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0017806 15q overgrowth syndrome MONDO:8000032 Orphanet:314585 Orphanet:377789 obsolete malformation syndrome -MONDO:0017807 growing teratoma syndrome MONDO:0032014 Orphanet:314613 Orphanet:377793 obsolete particular clinical situation in a disease or syndrome -MONDO:0017808 duplication of the pituitary gland MONDO:0015889 Orphanet:314621 Orphanet:181384 obsolete rare hypothalamic or pituitary disease -MONDO:0017808 duplication of the pituitary gland MONDO:0017090 Orphanet:314621 Orphanet:268926 obsolete midline cerebral malformation -MONDO:0017808 duplication of the pituitary gland MONDO:8000030 Orphanet:314621 Orphanet:377791 obsolete morphological anomaly -MONDO:0017809 parkinsonism due to ATP13A2 deficiency MONDO:0034901 Orphanet:314632 Orphanet:514980 obsolete ATP13A2-related parkinsonism -MONDO:0017811 severe neonatal hypotonia-seizures-encephalopathy syndrome due to 5q31.3 microdeletion MONDO:0018580 Orphanet:314655 Orphanet:438213 obsolete PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome -MONDO:0017811 severe neonatal hypotonia-seizures-encephalopathy syndrome due to 5q31.3 microdeletion MONDO:8000031 Orphanet:314655 Orphanet:557494 obsolete subtype of a disorder -MONDO:0017812 segmental progressive overgrowth syndrome with fibroadipose hyperplasia MONDO:0035162 Orphanet:314662 Orphanet:530313 obsolete PIK3CA-related overgrowth syndrome -MONDO:0017813 van Maldergem syndrome MONDO:0035863 Orphanet:314679 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0017813 van Maldergem syndrome MONDO:8000032 Orphanet:314679 Orphanet:377789 obsolete malformation syndrome -MONDO:0017815 acquired porencephaly MONDO:8000031 Orphanet:314697 Orphanet:557494 obsolete subtype of a disorder -MONDO:0017816 primary systemic amyloidosis MONDO:8000031 Orphanet:314701 Orphanet:557494 obsolete subtype of a disorder -MONDO:0017817 primary localized amyloidosis MONDO:8000031 Orphanet:314709 Orphanet:557494 obsolete subtype of a disorder -MONDO:0017818 lethal arteriopathy syndrome due to fibulin-4 deficiency MONDO:0016517 Orphanet:314718 Orphanet:233655 obsolete rare genetic vascular disease -MONDO:0017819 atypical dentin dysplasia due to SMOC2 deficiency MONDO:8000031 Orphanet:314721 Orphanet:557494 obsolete subtype of a disorder -MONDO:0017825 silent pituitary adenoma MONDO:8000031 Orphanet:314786 Orphanet:557494 obsolete subtype of a disorder -MONDO:0017826 null pituitary adenoma MONDO:8000031 Orphanet:314790 Orphanet:557494 obsolete subtype of a disorder -MONDO:0017828 obsolete primary renal tubular acidosis MONDO:0015962 Orphanet:314822 Orphanet:183592 inherited renal tubular disease -MONDO:0017828 obsolete primary renal tubular acidosis MONDO:0019744 Orphanet:314822 Orphanet:93603 obsolete rare renal tubular disease -MONDO:0017829 autosomal dominant proximal renal tubular acidosis MONDO:8000031 Orphanet:314889 Orphanet:557494 obsolete subtype of a disorder -MONDO:0017830 severe Canavan disease MONDO:8000031 Orphanet:314911 Orphanet:557494 obsolete subtype of a disorder -MONDO:0017831 mild Canavan disease MONDO:8000031 Orphanet:314918 Orphanet:557494 obsolete subtype of a disorder -MONDO:0017835 lymphocytic hypereosinophilic syndrome MONDO:8000031 Orphanet:314970 Orphanet:557494 obsolete subtype of a disorder -MONDO:0017836 erythrokeratoderma en cocardes MONDO:0026150 Orphanet:315 Orphanet:183438 obsolete genetic erythrokeratoderma -MONDO:0017837 multiple sclerosis-ichthyosis-factor VIII deficiency syndrome MONDO:0019039 Orphanet:3151 Orphanet:68334 obsolete rare hemorrhagic disorder due to a constitutional coagulation factors defect -MONDO:0017837 multiple sclerosis-ichthyosis-factor VIII deficiency syndrome MONDO:0029102 Orphanet:3151 Orphanet:281244 obsolete autosomal ichthyosis syndrome with other associated signs -MONDO:0017838 sclerosteosis MONDO:0800084 Orphanet:3152 Orphanet:93444 obsolete primary bone dysplasia with increased bone density -MONDO:0017838 sclerosteosis MONDO:8000032 Orphanet:3152 Orphanet:377789 obsolete malformation syndrome -MONDO:0017839 classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, salt wasting form MONDO:8000031 Orphanet:315306 Orphanet:557494 obsolete subtype of a disorder -MONDO:0017840 classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, simple virilizing form MONDO:8000031 Orphanet:315311 Orphanet:557494 obsolete subtype of a disorder -MONDO:0017841 obsolete autoimmune disease with skin involvement MONDO:0019519 Orphanet:315350 Orphanet:89826 obsolete rare skin disease -MONDO:0017842 Senior-Loken syndrome MONDO:0020240 Orphanet:3156 Orphanet:98661 obsolete syndromic retinitis pigmentosa -MONDO:0017842 Senior-Loken syndrome MONDO:0022405 Orphanet:3156 Orphanet:156180 obsolete retinal ciliopathy due to mutation in nephronophthisis gene -MONDO:0017842 Senior-Loken syndrome MONDO:0022409 Orphanet:3156 Orphanet:156162 obsolete nephropathy-associated ciliopathy -MONDO:0017843 congenital pulmonary sequestration MONDO:0015221 Orphanet:3161 Orphanet:108993 obsolete non-syndromic respiratory or mediastinal malformation -MONDO:0017843 congenital pulmonary sequestration MONDO:0015930 Orphanet:3161 Orphanet:182111 obsolete respiratory malformation -MONDO:0017843 congenital pulmonary sequestration MONDO:8000032 Orphanet:3161 Orphanet:377789 obsolete malformation syndrome -MONDO:0017844 Sezary syndrome MONDO:0015817 Orphanet:3162 Orphanet:178551 obsolete aggressive primary cutaneous T-cell lymphoma -MONDO:0017849 Siegler-Brewer-Carey syndrome MONDO:0015118 Orphanet:3167 Orphanet:101944 obsolete rare pulmonary disease -MONDO:0017849 Siegler-Brewer-Carey syndrome MONDO:0015510 Orphanet:3167 Orphanet:156610 obsolete rare genetic respiratory disease -MONDO:0017849 Siegler-Brewer-Carey syndrome MONDO:0020225 Orphanet:3167 Orphanet:98641 obsolete syndromic cataract -MONDO:0017849 Siegler-Brewer-Carey syndrome MONDO:8000032 Orphanet:3167 Orphanet:377789 obsolete malformation syndrome -MONDO:0017850 sirenomelia MONDO:8000032 Orphanet:3169 Orphanet:377789 obsolete malformation syndrome -MONDO:0017851 erythrokeratodermia variabilis MONDO:0017262 Orphanet:317 Orphanet:281082 obsolete inherited non-syndromic ichthyosis -MONDO:0017851 erythrokeratodermia variabilis MONDO:0020094 Orphanet:316 Orphanet:98352 obsolete autosomal dominant disease with diffuse palmoplantar keratoderma as a major feature -MONDO:0017851 erythrokeratodermia variabilis MONDO:0020225 Orphanet:317 Orphanet:98641 obsolete syndromic cataract -MONDO:0017852 infantile spasms-broad thumbs syndrome MONDO:0020225 Orphanet:3173 Orphanet:98641 obsolete syndromic cataract -MONDO:0017853 hypersensitivity pneumonitis MONDO:0017040 Orphanet:31740 Orphanet:264984 obsolete exposure-related interstitial lung disease -MONDO:0017853 hypersensitivity pneumonitis MONDO:0020028 Orphanet:31740 Orphanet:98052 obsolete rare allergic respiratory disease -MONDO:0017856 X-linked spasticity-intellectual disability-epilepsy syndrome MONDO:0015921 Orphanet:3175 Orphanet:182079 obsolete ARX-related epileptic encephalopathy -MONDO:0017856 X-linked spasticity-intellectual disability-epilepsy syndrome MONDO:0035862 Orphanet:3175 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome -MONDO:0017857 spina bifida-hypospadias syndrome MONDO:0015620 Orphanet:3176 Orphanet:165707 obsolete syndromic urogenital tract malformation -MONDO:0017857 spina bifida-hypospadias syndrome MONDO:0017120 Orphanet:3176 Orphanet:269531 obsolete other syndrome with a central nervous system malformation as major feature -MONDO:0017857 spina bifida-hypospadias syndrome MONDO:8000032 Orphanet:3176 Orphanet:377789 obsolete malformation syndrome -MONDO:0017859 colchicine poisoning MONDO:0017633 Orphanet:31824 Orphanet:306640 obsolete rare intoxication due to medical products -MONDO:0017859 colchicine poisoning MONDO:0032014 Orphanet:31824 Orphanet:377793 obsolete particular clinical situation in a disease or syndrome -MONDO:0017860 methanol poisoning MONDO:0035328 Orphanet:31825 Orphanet:556508 obsolete rare disorder due to poisoning -MONDO:0017861 ethylene glycol poisoning MONDO:0035328 Orphanet:31826 Orphanet:556508 obsolete rare disorder due to poisoning -MONDO:0017862 paraquat poisoning MONDO:0035328 Orphanet:31827 Orphanet:556508 obsolete rare disorder due to poisoning -MONDO:0017863 digitalis poisoning MONDO:0017633 Orphanet:31828 Orphanet:306640 obsolete rare intoxication due to medical products -MONDO:0017863 digitalis poisoning MONDO:0032014 Orphanet:31828 Orphanet:377793 obsolete particular clinical situation in a disease or syndrome -MONDO:0017864 congenital pulmonary veins atresia or stenosis MONDO:0015930 Orphanet:3188 Orphanet:182111 obsolete respiratory malformation -MONDO:0017865 congenital pulmonary valve stenosis MONDO:0020287 Orphanet:3189 Orphanet:98719 obsolete pulmonary artery or pulmonary branch anomaly -MONDO:0017865 congenital pulmonary valve stenosis MONDO:8000030 Orphanet:3189 Orphanet:377791 obsolete morphological anomaly -MONDO:0017866 subpulmonary stenosis MONDO:8000031 Orphanet:3190 Orphanet:557494 obsolete subtype of a disorder -MONDO:0017867 distal 17p13.1 microdeletion syndrome MONDO:0035863 Orphanet:319171 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0017867 distal 17p13.1 microdeletion syndrome MONDO:8000032 Orphanet:319171 Orphanet:377789 obsolete malformation syndrome -MONDO:0017868 diencephalic-mesencephalic junction dysplasia MONDO:0016054 Orphanet:319192 Orphanet:199633 obsolete cerebral malformation -MONDO:0017868 diencephalic-mesencephalic junction dysplasia MONDO:8000030 Orphanet:319192 Orphanet:377791 obsolete morphological anomaly -MONDO:0017869 chondroectodermal dysplasia with night blindness MONDO:0019704 Orphanet:319195 Orphanet:93446 obsolete primary bone dysplasia with decreased bone density -MONDO:0017870 supravalvular pulmonary stenosis MONDO:8000031 Orphanet:3192 Orphanet:557494 obsolete subtype of a disorder -MONDO:0017871 bilateral massive adrenal hemorrhage MONDO:8000031 Orphanet:319205 Orphanet:557494 obsolete subtype of a disorder -MONDO:0017891 obsolete inherited renal cancer-predisposing syndrome MONDO:0015356 Orphanet:319328 Orphanet:140162 hereditary neoplastic syndrome -MONDO:0017891 obsolete inherited renal cancer-predisposing syndrome MONDO:0019750 Orphanet:319328 Orphanet:93626 obsolete rare renal disease -MONDO:0017893 inherited acute myeloid leukemia MONDO:0030767 Orphanet:319465 Orphanet:322126 obsolete genetic tumor of hematopoietic and lymphoid tissues -MONDO:0017894 acute myeloid leukemia with CEBPA somatic mutations MONDO:0020078 Orphanet:319480 Orphanet:98277 obsolete acute myeloid leukemia with recurrent genetic anomaly -MONDO:0017894 acute myeloid leukemia with CEBPA somatic mutations MONDO:0030767 Orphanet:319480 Orphanet:322126 obsolete genetic tumor of hematopoietic and lymphoid tissues -MONDO:0017896 familial nonmedullary thyroid carcinoma MONDO:0025511 Orphanet:319494 Orphanet:271847 obsolete inherited neuroendocrine tumor -MONDO:0017897 obsolete autosomal recessive mendelian susceptibility to mycobacterial diseases due to a complete deficiency MONDO:0019146 Orphanet:319535 Orphanet:748 inherited susceptibility to mycobacterial diseases -MONDO:0017898 obsolete autosomal recessive mendelian susceptibility to mycobacterial diseases due to a partial deficiency MONDO:0019146 Orphanet:319539 Orphanet:748 inherited susceptibility to mycobacterial diseases -MONDO:0017899 obsolete autosomal dominant mendelian susceptibility to mycobacterial diseases due to a partial deficiency MONDO:0019146 Orphanet:319543 Orphanet:748 inherited susceptibility to mycobacterial diseases -MONDO:0017900 autosomal recessive Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR2 deficiency MONDO:0017897 Orphanet:319547 Orphanet:319535 obsolete autosomal recessive mendelian susceptibility to mycobacterial diseases due to a complete deficiency -MONDO:0017901 autosomal recessive Mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency MONDO:0017898 Orphanet:319569 Orphanet:319539 obsolete autosomal recessive mendelian susceptibility to mycobacterial diseases due to a partial deficiency -MONDO:0017902 autosomal recessive Mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR2 deficiency MONDO:0017898 Orphanet:319574 Orphanet:319539 obsolete autosomal recessive mendelian susceptibility to mycobacterial diseases due to a partial deficiency -MONDO:0017903 autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR2 deficiency MONDO:0017899 Orphanet:319589 Orphanet:319543 obsolete autosomal dominant mendelian susceptibility to mycobacterial diseases due to a partial deficiency -MONDO:0017904 steroid dehydrogenase deficiency-dental anomalies syndrome MONDO:0015115 Orphanet:3196 Orphanet:101940 obsolete rare genetic metabolic liver disease -MONDO:0017904 steroid dehydrogenase deficiency-dental anomalies syndrome MONDO:0015336 Orphanet:3196 Orphanet:139042 obsolete malformation syndrome with odontal and/or periodontal component -MONDO:0017904 steroid dehydrogenase deficiency-dental anomalies syndrome MONDO:0026190 Orphanet:3196 Orphanet:183580 obsolete genetic malformation syndrome with odontal and/or periodontal component -MONDO:0017909 inherited glutathione synthetase deficiency MONDO:0020105 Orphanet:32 Orphanet:98370 obsolete hemolytic anemia due to hexose monophosphate shunt and glutathione metabolism anomalies -MONDO:0017909 inherited glutathione synthetase deficiency MONDO:0035862 Orphanet:32 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome -MONDO:0017912 obsolete X-linked pure spastic paraplegia MONDO:0015149 Orphanet:320332 Orphanet:102012 pure hereditary spastic paraplegia -MONDO:0017914 obsolete pure or complex autosomal dominant spastic paraplegia MONDO:0017913 Orphanet:320342 Orphanet:320335 pure or complex hereditary spastic paraplegia -MONDO:0017915 obsolete pure or complex autosomal recessive spastic paraplegia MONDO:0017913 Orphanet:320346 Orphanet:320335 pure or complex hereditary spastic paraplegia -MONDO:0017916 obsolete pure or complex X-linked spastic paraplegia MONDO:0017913 Orphanet:320350 Orphanet:320335 pure or complex hereditary spastic paraplegia -MONDO:0017918 white matter hypoplasia-corpus callosum agenesis-intellectual disability syndrome MONDO:0016055 Orphanet:3207 Orphanet:199639 obsolete syndrome with corpus callosum agenesis /dysgenesis as a major feature -MONDO:0017918 white matter hypoplasia-corpus callosum agenesis-intellectual disability syndrome MONDO:0035863 Orphanet:3207 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0017918 white matter hypoplasia-corpus callosum agenesis-intellectual disability syndrome MONDO:8000032 Orphanet:3207 Orphanet:377789 obsolete malformation syndrome -MONDO:0017919 exstrophy-epispadias complex MONDO:0015215 Orphanet:322 Orphanet:108977 obsolete non-syndromic diaphragmatic or abdominal wall malformation -MONDO:0017919 exstrophy-epispadias complex MONDO:0015934 Orphanet:322 Orphanet:182124 obsolete non-syndromic urogenital tract malformation of male and female -MONDO:0017919 exstrophy-epispadias complex MONDO:0019720 Orphanet:322 Orphanet:93546 obsolete non-syndromic renal or urinary tract malformation -MONDO:0017919 exstrophy-epispadias complex MONDO:8000032 Orphanet:322 Orphanet:377789 obsolete malformation syndrome -MONDO:0017920 deafness-genital anomalies-metacarpal and metatarsal synostosis syndrome MONDO:0015620 Orphanet:3224 Orphanet:165707 obsolete syndromic urogenital tract malformation -MONDO:0017920 deafness-genital anomalies-metacarpal and metatarsal synostosis syndrome MONDO:0019589 Orphanet:3224 Orphanet:90642 obsolete syndromic genetic hearing loss -MONDO:0017920 deafness-genital anomalies-metacarpal and metatarsal synostosis syndrome MONDO:0035863 Orphanet:3224 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0017920 deafness-genital anomalies-metacarpal and metatarsal synostosis syndrome MONDO:8000032 Orphanet:3224 Orphanet:377789 obsolete malformation syndrome -MONDO:0017921 hearing loss-familial salivary gland insensitivity to aldosterone syndrome MONDO:0019589 Orphanet:3225 Orphanet:90642 obsolete syndromic genetic hearing loss -MONDO:0017921 hearing loss-familial salivary gland insensitivity to aldosterone syndrome MONDO:8000032 Orphanet:3225 Orphanet:377789 obsolete malformation syndrome -MONDO:0017922 obsolete deafness-onychodystrophy syndrome MONDO:0015159 Orphanet:3231 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0017922 obsolete deafness-onychodystrophy syndrome MONDO:0019285 Orphanet:3231 Orphanet:79370 obsolete syndromic nail anomaly -MONDO:0017922 obsolete deafness-onychodystrophy syndrome MONDO:0019287 Orphanet:3231 Orphanet:79373 ectodermal dysplasia syndrome -MONDO:0017922 obsolete deafness-onychodystrophy syndrome MONDO:0019589 Orphanet:3231 Orphanet:90642 obsolete syndromic genetic hearing loss -MONDO:0017922 obsolete deafness-onychodystrophy syndrome MONDO:0020225 Orphanet:3231 Orphanet:98641 obsolete syndromic cataract -MONDO:0017922 obsolete deafness-onychodystrophy syndrome MONDO:0035863 Orphanet:3231 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0017923 multiple synostoses syndrome MONDO:0019589 Orphanet:3237 Orphanet:90642 obsolete syndromic genetic hearing loss -MONDO:0017923 multiple synostoses syndrome MONDO:0800095 Orphanet:3237 Orphanet:93459 obsolete syndrome with synostosis or other joint formation defect -MONDO:0017923 multiple synostoses syndrome MONDO:8000032 Orphanet:3237 Orphanet:377789 obsolete malformation syndrome -MONDO:0017924 central nervous system calcification-deafness-tubular acidosis-anemia syndrome MONDO:0017828 Orphanet:3240 Orphanet:314822 obsolete primary renal tubular acidosis -MONDO:0017924 central nervous system calcification-deafness-tubular acidosis-anemia syndrome MONDO:0019589 Orphanet:3240 Orphanet:90642 obsolete syndromic genetic hearing loss -MONDO:0017924 central nervous system calcification-deafness-tubular acidosis-anemia syndrome MONDO:0035862 Orphanet:3240 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome -MONDO:0017925 T-cell immunodeficiency with epidermodysplasia verruciformis MONDO:0018033 Orphanet:324294 Orphanet:331193 obsolete other immunodeficiency syndromes due to defects in innate immunity -MONDO:0017926 multiple paragangliomas associated with polycythemia MONDO:0015971 Orphanet:324299 Orphanet:183637 obsolete rare genetic adrenal disease -MONDO:0017926 multiple paragangliomas associated with polycythemia MONDO:0025511 Orphanet:324299 Orphanet:271847 obsolete inherited neuroendocrine tumor -MONDO:0017926 multiple paragangliomas associated with polycythemia MONDO:0027929 Orphanet:324299 Orphanet:250165 obsolete genetic polycythemia -MONDO:0017928 9p13 microdeletion syndrome MONDO:0016891 Orphanet:324313 Orphanet:261929 obsolete partial deletion of the short arm of chromosome 9 -MONDO:0017928 9p13 microdeletion syndrome MONDO:0035863 Orphanet:324313 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0017928 9p13 microdeletion syndrome MONDO:8000032 Orphanet:324313 Orphanet:377789 obsolete malformation syndrome -MONDO:0017929 congenital achiasma MONDO:0020132 Orphanet:324353 Orphanet:98518 obsolete cranial nerve and nuclear aplasia -MONDO:0017929 congenital achiasma MONDO:8000030 Orphanet:324353 Orphanet:377791 obsolete morphological anomaly -MONDO:0017930 mixed sclerosing bone dystrophy with extra-skeletal manifestations MONDO:0800084 Orphanet:324364 Orphanet:93444 obsolete primary bone dysplasia with increased bone density -MONDO:0017932 muscular hypertrophy-hepatomegaly-polyhydramnios syndrome MONDO:0035863 Orphanet:324416 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0017932 muscular hypertrophy-hepatomegaly-polyhydramnios syndrome MONDO:8000032 Orphanet:324416 Orphanet:377789 obsolete malformation syndrome -MONDO:0017933 hypertrophic cardiomyopathy and renal tubular disease due to mitochondrial DNA mutation MONDO:0016327 Orphanet:324525 Orphanet:217587 obsolete mitochondrial disease with hypertrophic cardiomyopathy -MONDO:0017933 hypertrophic cardiomyopathy and renal tubular disease due to mitochondrial DNA mutation MONDO:0016793 Orphanet:324525 Orphanet:254776 obsolete mitochondrial oxidative phosphorylation disorder due to a point mutation of mitochondrial DNA -MONDO:0017933 hypertrophic cardiomyopathy and renal tubular disease due to mitochondrial DNA mutation MONDO:0019743 Orphanet:324525 Orphanet:93593 obsolete nephropathy secondary to a storage or other metabolic disease -MONDO:0017933 hypertrophic cardiomyopathy and renal tubular disease due to mitochondrial DNA mutation MONDO:0019744 Orphanet:324525 Orphanet:93603 obsolete rare renal tubular disease -MONDO:0017934 aphonia-deafness-retinal dystrophy-bifid halluces-intellectual disability syndrome MONDO:0035863 Orphanet:324540 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0017934 aphonia-deafness-retinal dystrophy-bifid halluces-intellectual disability syndrome MONDO:8000032 Orphanet:324540 Orphanet:377789 obsolete malformation syndrome -MONDO:0017939 classic multiminicore myopathy MONDO:8000031 Orphanet:324604 Orphanet:557494 obsolete subtype of a disorder -MONDO:0017943 autoerythrocyte sensitization syndrome MONDO:0017841 Orphanet:324636 Orphanet:315350 obsolete autoimmune disease with skin involvement -MONDO:0017945 ABetaL34V amyloidosis MONDO:8000031 Orphanet:324703 Orphanet:557494 obsolete subtype of a disorder -MONDO:0017946 ABeta amyloidosis, Iowa type MONDO:8000031 Orphanet:324708 Orphanet:557494 obsolete subtype of a disorder -MONDO:0017947 ABeta amyloidosis, Italian type MONDO:8000031 Orphanet:324713 Orphanet:557494 obsolete subtype of a disorder -MONDO:0017948 ABetaA21G amyloidosis MONDO:8000031 Orphanet:324718 Orphanet:557494 obsolete subtype of a disorder -MONDO:0017949 ABeta amyloidosis, Arctic type MONDO:8000031 Orphanet:324723 Orphanet:557494 obsolete subtype of a disorder -MONDO:0017950 obsolete microcephalic primordial dwarfism MONDO:0015159 Orphanet:324761 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0017950 obsolete microcephalic primordial dwarfism MONDO:0017119 Orphanet:324761 Orphanet:269528 obsolete syndrome with microcephaly as major feature -MONDO:0017950 obsolete microcephalic primordial dwarfism MONDO:0035863 Orphanet:324761 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0017952 obsolete non-familial rare disease with dilated cardiomyopathy MONDO:0016338 Orphanet:324767 Orphanet:217629 non-familial dilated cardiomyopathy -MONDO:0017954 obsolete pyogenic autoinflammatory syndrome MONDO:0019751 Orphanet:324927 Orphanet:93665 autoinflammatory syndrome -MONDO:0017955 obsolete granulomatous autoinflammatory syndrome MONDO:0019751 Orphanet:324930 Orphanet:93665 autoinflammatory syndrome -MONDO:0017956 obsolete mixed autoinflammatory and autoimmune syndrome MONDO:0019751 Orphanet:324933 Orphanet:93665 autoinflammatory syndrome -MONDO:0017956 obsolete mixed autoinflammatory and autoimmune syndrome MONDO:0957018 Orphanet:324933 Orphanet:319719 autoinflammatory syndrome of childhood -MONDO:0017957 obsolete unclassified autoinflammatory syndrome MONDO:0019751 Orphanet:324936 Orphanet:93665 autoinflammatory syndrome -MONDO:0017958 magic syndrome MONDO:0017957 Orphanet:324972 Orphanet:324936 obsolete unclassified autoinflammatory syndrome -MONDO:0017961 obsolete 46,XX disorder of gonadal development MONDO:0017576 Orphanet:325055 Orphanet:2982 46,XX disorder of sex development -MONDO:0017961 obsolete 46,XX disorder of gonadal development MONDO:0957024 Orphanet:325055 Orphanet:325697 obsolete hereditary 46,XX disorder of sex development -MONDO:0017962 obsolete 46,XX disorder of sex development induced by fetoplacental androgens excess MONDO:0020039 Orphanet:325061 Orphanet:98078 obsolete 46,XX disorder of sex development induced by androgens excess -MONDO:0017962 obsolete 46,XX disorder of sex development induced by fetoplacental androgens excess MONDO:0031004 Orphanet:325061 Orphanet:325665 obsolete genetic disorder of sex development of gynecological interest -MONDO:0017962 obsolete 46,XX disorder of sex development induced by fetoplacental androgens excess MONDO:0957024 Orphanet:325061 Orphanet:325697 obsolete hereditary 46,XX disorder of sex development -MONDO:0017963 obsolete 46,XX disorder of sex development induced by endogenous maternal-derived androgen MONDO:0019608 Orphanet:325093 Orphanet:91144 obsolete 46,XX disorder of sex development induced by maternal-derived androgen -MONDO:0017964 obsolete 46,XX disorder of sex development induced by exogenous maternal-derived androgen MONDO:0019608 Orphanet:325099 Orphanet:91144 obsolete 46,XX disorder of sex development induced by maternal-derived androgen -MONDO:0017965 obsolete syndrome with 46,XX disorder of sex development MONDO:0017576 Orphanet:325109 Orphanet:2982 46,XX disorder of sex development -MONDO:0017965 obsolete syndrome with 46,XX disorder of sex development MONDO:0957024 Orphanet:325109 Orphanet:325697 obsolete hereditary 46,XX disorder of sex development -MONDO:0017966 obsolete 46,XY disorder of gonadal development MONDO:0020040 Orphanet:325118 Orphanet:98085 46,XY disorder of sex development -MONDO:0017966 obsolete 46,XY disorder of gonadal development MONDO:0957025 Orphanet:325118 Orphanet:325706 obsolete hereditary 46,XY disorder of sex development -MONDO:0017967 testicular agenesis MONDO:0017966 Orphanet:325124 Orphanet:325118 obsolete 46,XY disorder of gonadal development -MONDO:0017967 testicular agenesis MONDO:0020090 Orphanet:325124 Orphanet:98313 obsolete male infertility due to gonadal dysgenesis -MONDO:0017967 testicular agenesis MONDO:8000030 Orphanet:325124 Orphanet:377791 obsolete morphological anomaly -MONDO:0017968 46,XY ovotesticular disorder of sex development MONDO:0017966 Orphanet:325345 Orphanet:325118 obsolete 46,XY disorder of gonadal development -MONDO:0017968 46,XY ovotesticular disorder of sex development MONDO:0020038 Orphanet:325345 Orphanet:98074 obsolete gonadal dysgenesis of gynecological interest -MONDO:0017969 obsolete 46,XY disorder of sex development of endocrine origin MONDO:0020040 Orphanet:325351 Orphanet:98085 46,XY disorder of sex development -MONDO:0017970 obsolete 46,XY disorder of sex development due to impaired androgen production MONDO:0017969 Orphanet:325357 Orphanet:325351 obsolete 46,XY disorder of sex development of endocrine origin -MONDO:0017971 obsolete 46,XY disorder of sex development due to a cholesterol synthesis defect MONDO:0019594 Orphanet:325511 Orphanet:90783 obsolete 46,XY disorder of sex development due to a testosterone synthesis defect -MONDO:0017972 classic congenital lipoid adrenal hyperplasia due to STAR deficency MONDO:8000031 Orphanet:325524 Orphanet:557494 obsolete subtype of a disorder -MONDO:0017973 non-classic congenital lipoid adrenal hyperplasia due to STAR deficency MONDO:0018387 Orphanet:325529 Orphanet:399584 obsolete rare male infertility due to adrenal disorder -MONDO:0017973 non-classic congenital lipoid adrenal hyperplasia due to STAR deficency MONDO:0018406 Orphanet:325529 Orphanet:399994 obsolete rare male infertility due to adrenal disorder of genetic origin -MONDO:0017973 non-classic congenital lipoid adrenal hyperplasia due to STAR deficency MONDO:8000031 Orphanet:325529 Orphanet:557494 obsolete subtype of a disorder -MONDO:0017974 obsolete 46,XY disorder of sex development induced by maternal-exposure to endocrine disruptors MONDO:0017969 Orphanet:325537 Orphanet:325351 obsolete 46,XY disorder of sex development of endocrine origin -MONDO:0017975 sex chromosome disorder of sex development MONDO:0031016 Orphanet:325546 Orphanet:325690 obsolete genetic disorder of sex development -MONDO:0017976 obsolete disorder of sex development of gynecological interest MONDO:0019937 Orphanet:325620 Orphanet:96344 obsolete rare gynecologic or obstetric disease -MONDO:0017977 obsolete 46,XY disorder of sex development of gynecological interest MONDO:0017976 Orphanet:325632 Orphanet:325620 obsolete disorder of sex development of gynecological interest -MONDO:0017977 obsolete 46,XY disorder of sex development of gynecological interest MONDO:0031004 Orphanet:325632 Orphanet:325665 obsolete genetic disorder of sex development of gynecological interest -MONDO:0017978 obsolete syndrome with disorder of sex development of gynecological interest MONDO:0017976 Orphanet:325638 Orphanet:325620 obsolete disorder of sex development of gynecological interest -MONDO:0017978 obsolete syndrome with disorder of sex development of gynecological interest MONDO:0031004 Orphanet:325638 Orphanet:325665 obsolete genetic disorder of sex development of gynecological interest -MONDO:0017979 autoimmune lymphoproliferative syndrome MONDO:0015709 Orphanet:3261 Orphanet:169355 obsolete immunodeficiency syndrome with autoimmunity -MONDO:0017980 syngnathia multiple anomalies MONDO:0800085 Orphanet:3262 Orphanet:93453 obsolete dysostosis with predominant craniofacial involvement -MONDO:0017980 syngnathia multiple anomalies MONDO:8000032 Orphanet:3262 Orphanet:377789 obsolete malformation syndrome -MONDO:0017981 syngnathia-cleft palate syndrome MONDO:0015335 Orphanet:3263 Orphanet:139039 obsolete Mendelian syndromes with cleft lip/palate -MONDO:0017981 syngnathia-cleft palate syndrome MONDO:8000032 Orphanet:3263 Orphanet:377789 obsolete malformation syndrome -MONDO:0017983 humero-radio-ulnar synostosis MONDO:0017429 Orphanet:3266 Orphanet:294949 obsolete joint formation defects -MONDO:0017983 humero-radio-ulnar synostosis MONDO:8000030 Orphanet:3266 Orphanet:377791 obsolete morphological anomaly -MONDO:0017985 congenital radioulnar synostosis MONDO:0017429 Orphanet:3269 Orphanet:294949 obsolete joint formation defects -MONDO:0017985 congenital radioulnar synostosis MONDO:8000030 Orphanet:3269 Orphanet:377791 obsolete morphological anomaly -MONDO:0017987 syringomyelia MONDO:0015141 Orphanet:3280 Orphanet:102000 obsolete disorder of medulla oblongata -MONDO:0017988 multifocal atrial tachycardia MONDO:0016348 Orphanet:3282 Orphanet:218439 obsolete non-genetic cardiac rhythm disease -MONDO:0017989 His bundle tachycardia MONDO:0015110 Orphanet:3283 Orphanet:101934 obsolete genetic cardiac rhythm disease -MONDO:0017990 catecholaminergic polymorphic ventricular tachycardia MONDO:0015110 Orphanet:3286 Orphanet:101934 obsolete genetic cardiac rhythm disease -MONDO:0017991 Takayasu arteritis MONDO:0015488 Orphanet:3287 Orphanet:156140 obsolete predominantly large-vessel vasculitis -MONDO:0017991 Takayasu arteritis MONDO:8000030 Orphanet:99079 Orphanet:377791 obsolete morphological anomaly -MONDO:0017992 autoinflammatory syndrome with pyogenic bacterial infection and amylopectinosis MONDO:0017956 Orphanet:329173 Orphanet:324933 obsolete mixed autoinflammatory and autoimmune syndrome -MONDO:0017992 autoinflammatory syndrome with pyogenic bacterial infection and amylopectinosis MONDO:0018035 Orphanet:329173 Orphanet:331217 obsolete syndrome with combined immunodeficiency -MONDO:0017993 cerebral sinovenous thrombosis MONDO:0019110 Orphanet:329217 Orphanet:71281 obsolete rare central nervous system or retinal vascular disease -MONDO:0017994 severe early-onset obesity-insulin resistance syndrome due to SH2B1 deficiency MONDO:8000031 Orphanet:329249 Orphanet:557494 obsolete subtype of a disorder -MONDO:0017997 telecanthus-hypertelorism-strabismus-pes cavus syndrome MONDO:0020253 Orphanet:3293 Orphanet:98683 obsolete syndrome with a symptomatic strabismus -MONDO:0017997 telecanthus-hypertelorism-strabismus-pes cavus syndrome MONDO:0035863 Orphanet:3293 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0017997 telecanthus-hypertelorism-strabismus-pes cavus syndrome MONDO:8000032 Orphanet:3293 Orphanet:377789 obsolete malformation syndrome -MONDO:0017998 PLA2G6-associated neurodegeneration MONDO:0018118 Orphanet:329303 Orphanet:352306 obsolete disorder of phospholipids, sphingolipids and fatty acids biosynthesis with central nervous system predominant involvement -MONDO:0017999 fatty acid hydroxylase-associated neurodegeneration MONDO:0015089 Orphanet:329308 Orphanet:100981 obsolete autosomal recessive complex spastic paraplegia -MONDO:0017999 fatty acid hydroxylase-associated neurodegeneration MONDO:0018118 Orphanet:329308 Orphanet:352306 obsolete disorder of phospholipids, sphingolipids and fatty acids biosynthesis with central nervous system predominant involvement -MONDO:0017999 fatty acid hydroxylase-associated neurodegeneration MONDO:0018609 Orphanet:329308 Orphanet:441434 obsolete syndromic hereditary optic neuropathy -MONDO:0018000 hereditary thrombocytosis with transverse limb defect MONDO:0016636 Orphanet:329319 Orphanet:248401 obsolete thrombotic disorder due to a constitutional platelet anomaly -MONDO:0018000 hereditary thrombocytosis with transverse limb defect MONDO:0017432 Orphanet:329319 Orphanet:294955 obsolete syndrome with limb reduction defects -MONDO:0018001 inverse Klippel-Trenaunay syndrome MONDO:0016524 Orphanet:329324 Orphanet:235832 obsolete congenital vascular bone syndrome -MONDO:0018001 inverse Klippel-Trenaunay syndrome MONDO:0018718 Orphanet:329324 Orphanet:458827 obsolete vascular tumor with associated anomalies -MONDO:0018002 adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy MONDO:0016792 Orphanet:329336 Orphanet:254767 obsolete mitochondrial oxidative phosphorylation disorder due to a large-scale single deletion of mitochondrial DNA -MONDO:0018002 adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy MONDO:0019058 Orphanet:329336 Orphanet:68385 obsolete neurometabolic disease -MONDO:0018002 adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy MONDO:0019589 Orphanet:329336 Orphanet:90642 obsolete syndromic genetic hearing loss -MONDO:0018004 acute megakaryoblastic leukemia without down syndrome MONDO:8000031 Orphanet:329469 Orphanet:557494 obsolete subtype of a disorder -MONDO:0018005 spastic paraplegia-Paget disease of bone syndrome MONDO:0800084 Orphanet:329475 Orphanet:93444 obsolete primary bone dysplasia with increased bone density -MONDO:0018005 spastic paraplegia-Paget disease of bone syndrome MONDO:0800089 Orphanet:329475 Orphanet:93450 obsolete primary bone dysplasia with disorganized development of skeletal components -MONDO:0018007 mosaic genome-wide paternal uniparental disomy MONDO:0020055 Orphanet:329813 Orphanet:98152 obsolete autosomal uniparental disomy -MONDO:0018007 mosaic genome-wide paternal uniparental disomy MONDO:8000032 Orphanet:329813 Orphanet:377789 obsolete malformation syndrome -MONDO:0018009 non-hypoproteinemic hypertrophic gastropathy MONDO:0015111 Orphanet:329883 Orphanet:101936 obsolete gastroesophageal disease -MONDO:0018013 non-immunoglobulin-mediated membranoproliferative glomerulonephritis MONDO:8000031 Orphanet:329918 Orphanet:557494 obsolete subtype of a disorder -MONDO:0018015 intermittent hydrarthrosis MONDO:0015940 Orphanet:329967 Orphanet:182231 obsolete rare rheumatologic disease -MONDO:0018015 intermittent hydrarthrosis MONDO:0028795 Orphanet:329967 Orphanet:271870 obsolete rare genetic systemic or rheumatologic disease -MONDO:0018016 classic neuroendocrine tumor of appendix MONDO:8000031 Orphanet:329977 Orphanet:557494 obsolete subtype of a disorder -MONDO:0018017 goblet cell carcinoma MONDO:8000031 Orphanet:329984 Orphanet:557494 obsolete subtype of a disorder -MONDO:0018019 lead poisoning MONDO:0035328 Orphanet:330015 Orphanet:556508 obsolete rare disorder due to poisoning -MONDO:0018020 mercury poisoning MONDO:0035328 Orphanet:330021 Orphanet:556508 obsolete rare disorder due to poisoning -MONDO:0018021 hypotrichosis-deafness syndrome MONDO:0019285 Orphanet:330029 Orphanet:79370 obsolete syndromic nail anomaly -MONDO:0018021 hypotrichosis-deafness syndrome MONDO:0019589 Orphanet:330029 Orphanet:90642 obsolete syndromic genetic hearing loss -MONDO:0018021 hypotrichosis-deafness syndrome MONDO:0021034 Orphanet:330029 Orphanet:481771 obsolete hereditary alopecia -MONDO:0018022 hemoglobin Lepore-beta-thalassemia syndrome MONDO:0016488 Orphanet:330032 Orphanet:231230 obsolete beta-thalassemia associated with another hemoglobin anomaly -MONDO:0018023 hemoglobin M disease MONDO:0034039 Orphanet:330041 Orphanet:466066 obsolete genetic hemoglobinopathy -MONDO:0018024 hydroa vacciniforme MONDO:0019304 Orphanet:330058 Orphanet:79390 obsolete rare photodermatosis -MONDO:0018025 chronic actinic dermatitis MONDO:0019304 Orphanet:330064 Orphanet:79390 obsolete rare photodermatosis -MONDO:0018026 tetraploidy syndrome MONDO:8000032 Orphanet:3305 Orphanet:377789 obsolete malformation syndrome -MONDO:0018027 duplication/inversion 15q11 MONDO:0015652 Orphanet:3306 Orphanet:166469 obsolete chromosomal anomaly with epilepsy as a major feature -MONDO:0018027 duplication/inversion 15q11 MONDO:0015878 Orphanet:3306 Orphanet:180772 obsolete rare disease with autism -MONDO:0018027 duplication/inversion 15q11 MONDO:0016998 Orphanet:3306 Orphanet:263708 obsolete complex chromosomal rearrangement -MONDO:0018027 duplication/inversion 15q11 MONDO:8000032 Orphanet:3306 Orphanet:377789 obsolete malformation syndrome -MONDO:0018028 tetrasomy 5p MONDO:0020226 Orphanet:3309 Orphanet:98642 obsolete chromosomal anomaly with cataract -MONDO:0018028 tetrasomy 5p MONDO:8000032 Orphanet:3309 Orphanet:377789 obsolete malformation syndrome -MONDO:0018029 congenital factor XIII deficiency MONDO:0019039 Orphanet:331 Orphanet:68334 obsolete rare hemorrhagic disorder due to a constitutional coagulation factors defect -MONDO:0018030 tetrasomy 9p MONDO:8000032 Orphanet:3310 Orphanet:377789 obsolete malformation syndrome -MONDO:0018032 obsolete constitutional neutropenia with extra-hematopoietic manifestations MONDO:0015134 Orphanet:331184 Orphanet:101987 constitutional neutropenia -MONDO:0018033 obsolete other immunodeficiency syndromes due to defects in innate immunity MONDO:0015135 Orphanet:331193 Orphanet:101988 obsolete primary immunodeficiency due to a genetic defect in innate immunity -MONDO:0018034 thalidomide embryopathy MONDO:0017432 Orphanet:3312 Orphanet:294955 obsolete syndrome with limb reduction defects -MONDO:0018034 thalidomide embryopathy MONDO:8000032 Orphanet:3312 Orphanet:377789 obsolete malformation syndrome -MONDO:0018035 obsolete syndrome with combined immunodeficiency MONDO:0015823 Orphanet:331217 Orphanet:179006 obsolete primary immunodeficiency due to a defect in adaptive immunity -MONDO:0018036 obsolete immunodeficiency due to absence of thymus MONDO:0018035 Orphanet:331220 Orphanet:331217 obsolete syndrome with combined immunodeficiency -MONDO:0018037 hyper-IgE syndrome MONDO:0018035 Orphanet:331223 Orphanet:331217 obsolete syndrome with combined immunodeficiency -MONDO:0018038 obsolete immunodeficiency with isotype or light chain deficiencies with normal number of B-cells MONDO:0015132 Orphanet:331232 Orphanet:101977 obsolete immunodeficiency predominantly affecting antibody production -MONDO:0018039 selective IgM deficiency MONDO:0018038 Orphanet:331235 Orphanet:331232 obsolete immunodeficiency with isotype or light chain deficiencies with normal number of B-cells -MONDO:0018040 obsolete immunodeficiency with severe reduction in serum IgG and IgA with normal/elevated IgM and normal number of B-cells MONDO:0015132 Orphanet:331240 Orphanet:101977 obsolete immunodeficiency predominantly affecting antibody production -MONDO:0018041 obsolete other immunodeficiency syndrome with predominantly antibody defects MONDO:0015132 Orphanet:331244 Orphanet:101977 obsolete immunodeficiency predominantly affecting antibody production -MONDO:0018042 obsolete immunodeficiency syndrome with abnormal pigmentation MONDO:0015541 Orphanet:331249 Orphanet:158038 hereditary hemophagocytic lymphohistiocytosis -MONDO:0018043 Thomas syndrome MONDO:0015335 Orphanet:3316 Orphanet:139039 obsolete Mendelian syndromes with cleft lip/palate -MONDO:0018043 Thomas syndrome MONDO:0015506 Orphanet:3316 Orphanet:156532 obsolete rare syndrome with cardiac malformations -MONDO:0018043 Thomas syndrome MONDO:0019721 Orphanet:3316 Orphanet:93547 obsolete syndromic renal or urinary tract malformation -MONDO:0018043 Thomas syndrome MONDO:0043008 Orphanet:3316 Orphanet:330206 obsolete genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability -MONDO:0018043 Thomas syndrome MONDO:8000032 Orphanet:3316 Orphanet:377789 obsolete malformation syndrome -MONDO:0018044 idiopathic hypersomnia MONDO:0019045 Orphanet:33208 Orphanet:68354 obsolete rare sleep disorder -MONDO:0018045 Hoyeraal-Hreidarsson syndrome MONDO:0017118 Orphanet:3322 Orphanet:269523 obsolete syndrome with a cerebellar malformation as major feature -MONDO:0018045 Hoyeraal-Hreidarsson syndrome MONDO:0018035 Orphanet:3322 Orphanet:331217 obsolete syndrome with combined immunodeficiency -MONDO:0018045 Hoyeraal-Hreidarsson syndrome MONDO:0035862 Orphanet:3322 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome -MONDO:0018047 familial thrombomodulin anomalies MONDO:0016633 Orphanet:3324 Orphanet:248361 obsolete thrombotic disorder due to a constitutional coagulation factors defect -MONDO:0018048 heparin-induced thrombocytopenia MONDO:0016634 Orphanet:3325 Orphanet:248365 obsolete thrombotic disorder due to an acquired coagulation factors defect -MONDO:0018050 tibial aplasia-ectrodactyly syndrome MONDO:0015335 Orphanet:3329 Orphanet:139039 obsolete Mendelian syndromes with cleft lip/palate -MONDO:0018050 tibial aplasia-ectrodactyly syndrome MONDO:0017432 Orphanet:3329 Orphanet:294955 obsolete syndrome with limb reduction defects -MONDO:0018050 tibial aplasia-ectrodactyly syndrome MONDO:0017433 Orphanet:3329 Orphanet:294957 obsolete dysostosis with combined reduction defects of upper and lower limbs -MONDO:0018050 tibial aplasia-ectrodactyly syndrome MONDO:0800090 Orphanet:3329 Orphanet:498477 obsolete ectrodactyly with and without other manifestations -MONDO:0018050 tibial aplasia-ectrodactyly syndrome MONDO:8000032 Orphanet:3329 Orphanet:377789 obsolete malformation syndrome -MONDO:0018051 Jessner lymphocytic infiltration of the skin MONDO:0019546 Orphanet:33314 Orphanet:90077 obsolete other acquired skin disease -MONDO:0018053 trichothiodystrophy MONDO:0017271 Orphanet:33364 Orphanet:281222 obsolete autosomal ichthyosis syndrome with prominent hair abnormalities -MONDO:0018053 trichothiodystrophy MONDO:0018390 Orphanet:33364 Orphanet:399771 obsolete male infertility due to sperm disorder -MONDO:0018053 trichothiodystrophy MONDO:0019282 Orphanet:33364 Orphanet:79367 obsolete syndromic hair shaft abnormality -MONDO:0018053 trichothiodystrophy MONDO:0020225 Orphanet:33364 Orphanet:98641 obsolete syndromic cataract -MONDO:0018053 trichothiodystrophy MONDO:0035862 Orphanet:33364 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome -MONDO:0018054 familial atrial fibrillation MONDO:0015110 Orphanet:334 Orphanet:101934 obsolete genetic cardiac rhythm disease -MONDO:0018056 bullous lichen planus MONDO:0016767 Orphanet:33408 Orphanet:254370 obsolete cutaneous lichen planus -MONDO:0018058 tracheal agenesis MONDO:0015221 Orphanet:3346 Orphanet:108993 obsolete non-syndromic respiratory or mediastinal malformation -MONDO:0018058 tracheal agenesis MONDO:0015505 Orphanet:3346 Orphanet:156252 obsolete tracheal anomaly -MONDO:0018058 tracheal agenesis MONDO:0015930 Orphanet:3346 Orphanet:182111 obsolete respiratory malformation -MONDO:0018058 tracheal agenesis MONDO:8000030 Orphanet:3346 Orphanet:377791 obsolete morphological anomaly -MONDO:0018059 meningococcal meningitis MONDO:0015659 Orphanet:33475 Orphanet:166490 obsolete infectious disease with epilepsy -MONDO:0018060 congenital fibrinogen deficiency MONDO:0019039 Orphanet:335 Orphanet:68334 obsolete rare hemorrhagic disorder due to a constitutional coagulation factors defect -MONDO:0018061 trichodermodysplasia-dental alterations syndrome MONDO:0015336 Orphanet:3353 Orphanet:139042 obsolete malformation syndrome with odontal and/or periodontal component -MONDO:0018061 trichodermodysplasia-dental alterations syndrome MONDO:0026190 Orphanet:3353 Orphanet:183580 obsolete genetic malformation syndrome with odontal and/or periodontal component -MONDO:0018061 trichodermodysplasia-dental alterations syndrome MONDO:8000032 Orphanet:3353 Orphanet:377789 obsolete malformation syndrome -MONDO:0018064 trigonocephaly-broad thumbs syndrome MONDO:8000032 Orphanet:3365 Orphanet:377789 obsolete malformation syndrome -MONDO:0018065 isolated trigonocephaly MONDO:0020254 Orphanet:3366 Orphanet:98684 obsolete craniostenosis associated with a strabismus -MONDO:0018065 isolated trigonocephaly MONDO:8000030 Orphanet:3366 Orphanet:377791 obsolete morphological anomaly -MONDO:0018066 trisomy X MONDO:0017002 Orphanet:3375 Orphanet:263723 obsolete polysomy of X chromosome -MONDO:0018066 trisomy X MONDO:0018401 Orphanet:3375 Orphanet:399853 obsolete female infertility due to an anomaly of ovarian function -MONDO:0018066 trisomy X MONDO:0018413 Orphanet:3375 Orphanet:400022 obsolete female infertility due to an anomaly of ovarian function of genetic origin -MONDO:0018066 trisomy X MONDO:0034443 Orphanet:3375 Orphanet:485382 obsolete genetic non-acquired premature ovarian failure -MONDO:0018066 trisomy X MONDO:8000032 Orphanet:3375 Orphanet:377789 obsolete malformation syndrome -MONDO:0018067 triploidy MONDO:0018731 Orphanet:3376 Orphanet:459787 obsolete lethal multiple congenital anomalies/dysmorphic syndrome -MONDO:0018067 triploidy MONDO:0020226 Orphanet:3376 Orphanet:98642 obsolete chromosomal anomaly with cataract -MONDO:0018067 triploidy MONDO:8000032 Orphanet:3376 Orphanet:377789 obsolete malformation syndrome -MONDO:0018068 trisomy 13 MONDO:0015216 Orphanet:3378 Orphanet:108979 obsolete syndromic diaphragmatic or abdominal wall malformation -MONDO:0018068 trisomy 13 MONDO:0015246 Orphanet:3378 Orphanet:117573 obsolete syndromic anorectal malformation -MONDO:0018068 trisomy 13 MONDO:0019721 Orphanet:3378 Orphanet:93547 obsolete syndromic renal or urinary tract malformation -MONDO:0018068 trisomy 13 MONDO:0020051 Orphanet:3378 Orphanet:98131 obsolete total autosomal trisomy -MONDO:0018068 trisomy 13 MONDO:0020226 Orphanet:3378 Orphanet:98642 obsolete chromosomal anomaly with cataract -MONDO:0018068 trisomy 13 MONDO:0034954 Orphanet:3378 Orphanet:519327 obsolete syndromic vitreoretinopathy -MONDO:0018068 trisomy 13 MONDO:8000032 Orphanet:3378 Orphanet:377789 obsolete malformation syndrome -MONDO:0018069 distal trisomy 17q MONDO:8000032 Orphanet:3379 Orphanet:377789 obsolete malformation syndrome -MONDO:0018071 trisomy 18 MONDO:0015216 Orphanet:3380 Orphanet:108979 obsolete syndromic diaphragmatic or abdominal wall malformation -MONDO:0018071 trisomy 18 MONDO:0015246 Orphanet:3380 Orphanet:117573 obsolete syndromic anorectal malformation -MONDO:0018071 trisomy 18 MONDO:0019721 Orphanet:3380 Orphanet:93547 obsolete syndromic renal or urinary tract malformation -MONDO:0018071 trisomy 18 MONDO:0020051 Orphanet:3380 Orphanet:98131 obsolete total autosomal trisomy -MONDO:0018071 trisomy 18 MONDO:0020226 Orphanet:3380 Orphanet:98642 obsolete chromosomal anomaly with cataract -MONDO:0018071 trisomy 18 MONDO:8000032 Orphanet:3380 Orphanet:377789 obsolete malformation syndrome -MONDO:0018072 persistent truncus arteriosus MONDO:0018797 Orphanet:3384 Orphanet:477805 obsolete genetic cardiac malformation -MONDO:0018072 persistent truncus arteriosus MONDO:8000030 Orphanet:3384 Orphanet:377791 obsolete morphological anomaly -MONDO:0018075 neural tube defect MONDO:0015219 Orphanet:3388 Orphanet:108989 obsolete non-syndromic central nervous system malformation -MONDO:0018076 tuberculosis MONDO:0015575 Orphanet:3389 Orphanet:163582 obsolete rare bacterial infectious disease -MONDO:0018077 tularemia MONDO:0015575 Orphanet:3392 Orphanet:163582 obsolete rare bacterial infectious disease -MONDO:0018078 soft tissue sarcoma MONDO:0019099 Orphanet:3394 Orphanet:71209 obsolete rare soft tissue tumor -MONDO:0018080 obsolete rare germ cell tumor MONDO:0020031 Orphanet:3399 Orphanet:98057 obsolete rare tumor -MONDO:0018082 aorto-ventricular tunnel MONDO:0020293 Orphanet:3400 Orphanet:98725 obsolete ascending aorta anomaly -MONDO:0018082 aorto-ventricular tunnel MONDO:8000030 Orphanet:3400 Orphanet:377791 obsolete morphological anomaly -MONDO:0018084 Uhl anomaly MONDO:0016343 Orphanet:3403 Orphanet:217678 obsolete unclassified cardiomyopathy -MONDO:0018084 Uhl anomaly MONDO:8000030 Orphanet:3403 Orphanet:377791 obsolete morphological anomaly -MONDO:0018085 umbilical cord ulceration-intestinal atresia syndrome MONDO:0015212 Orphanet:3405 Orphanet:108969 obsolete syndromic intestinal malformation -MONDO:0018085 umbilical cord ulceration-intestinal atresia syndrome MONDO:8000032 Orphanet:3405 Orphanet:377789 obsolete malformation syndrome -MONDO:0018087 viral hemorrhagic fever MONDO:0015576 Orphanet:341 Orphanet:163585 obsolete rare viral disease -MONDO:0018088 familial Mediterranean fever MONDO:0017369 Orphanet:342 Orphanet:290839 obsolete autoinflammatory syndrome with immune deficiency -MONDO:0018089 double outlet right ventricle MONDO:0017131 Orphanet:3426 Orphanet:271853 obsolete hereditary cardiac anomaly -MONDO:0018089 double outlet right ventricle MONDO:8000030 Orphanet:3426 Orphanet:377791 obsolete morphological anomaly -MONDO:0018090 double outlet left ventricle MONDO:8000030 Orphanet:3427 Orphanet:377791 obsolete morphological anomaly -MONDO:0018091 microcephaly-brachydactyly-kyphoscoliosis syndrome MONDO:0020225 Orphanet:3433 Orphanet:98641 obsolete syndromic cataract -MONDO:0018091 microcephaly-brachydactyly-kyphoscoliosis syndrome MONDO:0035863 Orphanet:3433 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0018091 microcephaly-brachydactyly-kyphoscoliosis syndrome MONDO:0800094 Orphanet:3433 Orphanet:498454 obsolete dysostosis with brachydactyly with extraskeletal manifestations -MONDO:0018091 microcephaly-brachydactyly-kyphoscoliosis syndrome MONDO:8000032 Orphanet:3433 Orphanet:377789 obsolete malformation syndrome -MONDO:0018092 Vogt-Koyanagi-Harada disease MONDO:0015916 Orphanet:3437 Orphanet:182064 obsolete rare neuroinflammatory or neuroimmunological disease -MONDO:0018092 Vogt-Koyanagi-Harada disease MONDO:0020225 Orphanet:3437 Orphanet:98641 obsolete syndromic cataract -MONDO:0018093 arbovirus fever MONDO:0015576 Orphanet:344 Orphanet:163585 obsolete rare viral disease -MONDO:0018094 Waardenburg syndrome MONDO:0015331 Orphanet:3440 Orphanet:139027 obsolete malformation syndrome with skin/mucosae involvement -MONDO:0018094 Waardenburg syndrome MONDO:0019589 Orphanet:3440 Orphanet:90642 obsolete syndromic genetic hearing loss -MONDO:0018094 Waardenburg syndrome MONDO:0043008 Orphanet:3440 Orphanet:330206 obsolete genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability -MONDO:0018095 Weaver-Williams syndrome MONDO:0015335 Orphanet:3448 Orphanet:139039 obsolete Mendelian syndromes with cleft lip/palate -MONDO:0018095 Weaver-Williams syndrome MONDO:0035863 Orphanet:3448 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0018095 Weaver-Williams syndrome MONDO:8000032 Orphanet:3448 Orphanet:377789 obsolete malformation syndrome -MONDO:0018096 Weill-Marchesani syndrome MONDO:0020222 Orphanet:3449 Orphanet:98638 obsolete rare disease with glaucoma as a major feature -MONDO:0018096 Weill-Marchesani syndrome MONDO:0034937 Orphanet:3449 Orphanet:519292 obsolete syndromic ectopia lentis -MONDO:0018096 Weill-Marchesani syndrome MONDO:0043008 Orphanet:3449 Orphanet:330206 obsolete genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability -MONDO:0018096 Weill-Marchesani syndrome MONDO:8000032 Orphanet:3449 Orphanet:377789 obsolete malformation syndrome -MONDO:0018097 West syndrome MONDO:0015921 Orphanet:3451 Orphanet:182079 obsolete ARX-related epileptic encephalopathy -MONDO:0018097 West syndrome MONDO:0032013 Orphanet:3451 Orphanet:377792 obsolete clinical syndrome -MONDO:0018097 West syndrome MONDO:0035862 Orphanet:3451 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome -MONDO:0018105 Wolfram syndrome MONDO:0015886 Orphanet:3463 Orphanet:181371 obsolete rare diabetes mellitus type 1 -MONDO:0018105 Wolfram syndrome MONDO:0018609 Orphanet:3463 Orphanet:441434 obsolete syndromic hereditary optic neuropathy -MONDO:0018105 Wolfram syndrome MONDO:0019589 Orphanet:3463 Orphanet:90642 obsolete syndromic genetic hearing loss -MONDO:0018106 hereditary xanthinuria MONDO:0019743 Orphanet:3467 Orphanet:93593 obsolete nephropathy secondary to a storage or other metabolic disease -MONDO:0018108 idiopathic disseminated cytomegalovirus infection MONDO:0015576 Orphanet:35062 Orphanet:163585 obsolete rare viral disease -MONDO:0018109 fulminant viral hepatitis MONDO:0015114 Orphanet:35063 Orphanet:101939 obsolete rare parenchymal liver disease -MONDO:0018112 obsolete isolated scaphocephaly MONDO:0020254 Orphanet:35093 Orphanet:98684 obsolete craniostenosis associated with a strabismus -MONDO:0018112 obsolete isolated scaphocephaly MONDO:0850072 Orphanet:35093 Orphanet:620096 non-syndromic unisutural craniosynostosis -MONDO:0018112 obsolete isolated scaphocephaly MONDO:8000030 Orphanet:35093 Orphanet:377791 obsolete morphological anomaly -MONDO:0018114 obsolete isolated brachycephaly MONDO:0020254 Orphanet:35099 Orphanet:98684 obsolete craniostenosis associated with a strabismus -MONDO:0018114 obsolete isolated brachycephaly MONDO:0035862 Orphanet:35099 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome -MONDO:0018114 obsolete isolated brachycephaly MONDO:0850077 Orphanet:35099 Orphanet:620152 non-syndromic multisutural craniosynostosis -MONDO:0018114 obsolete isolated brachycephaly MONDO:8000030 Orphanet:35099 Orphanet:377791 obsolete morphological anomaly -MONDO:0018115 epidermal nevus syndrome MONDO:0017414 Orphanet:35125 Orphanet:294057 obsolete rare nevus -MONDO:0018115 epidermal nevus syndrome MONDO:0020225 Orphanet:35125 Orphanet:98641 obsolete syndromic cataract -MONDO:0018116 galactosemia MONDO:0019743 Orphanet:352 Orphanet:93593 obsolete nephropathy secondary to a storage or other metabolic disease -MONDO:0018116 galactosemia MONDO:0020228 Orphanet:352 Orphanet:98644 obsolete cataract associated with a metabolic disease -MONDO:0018118 obsolete disorder of phospholipids, sphingolipids and fatty acids biosynthesis with central nervous system predominant involvement MONDO:0018117 Orphanet:352306 Orphanet:352301 disorder of phospholipids, sphingolipids and fatty acids biosynthesis -MONDO:0018119 obsolete disorder of phospholipids, sphingolipids and fatty acids biosynthesis with peripheral nerves predominant involvement MONDO:0018117 Orphanet:352309 Orphanet:352301 disorder of phospholipids, sphingolipids and fatty acids biosynthesis -MONDO:0018120 obsolete disorder of phospholipids, sphingolipids and fatty acids biosynthesis with skeletal muscle predominant involvement MONDO:0018117 Orphanet:352312 Orphanet:352301 disorder of phospholipids, sphingolipids and fatty acids biosynthesis -MONDO:0018121 mitochondrial DNA maintenance syndrome MONDO:0016578 Orphanet:352456 Orphanet:2443 obsolete mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies -MONDO:0018123 intellectual disability-obesity-brain malformations-facial dysmorphism syndrome MONDO:0016565 Orphanet:352530 Orphanet:240371 obsolete syndromic genetic obesity -MONDO:0018123 intellectual disability-obesity-brain malformations-facial dysmorphism syndrome MONDO:0035863 Orphanet:352530 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0018124 Oncogenic osteomalacia MONDO:0019061 Orphanet:352540 Orphanet:68415 obsolete rare parathyroid disease and phosphocalcic metabolism anomaly -MONDO:0018124 Oncogenic osteomalacia MONDO:0019684 Orphanet:352540 Orphanet:93419 obsolete rare bone disease -MONDO:0018124 Oncogenic osteomalacia MONDO:0019744 Orphanet:352540 Orphanet:93603 obsolete rare renal tubular disease -MONDO:0018124 Oncogenic osteomalacia MONDO:0022409 Orphanet:352540 Orphanet:156162 obsolete nephropathy-associated ciliopathy -MONDO:0018125 focal epilepsy-intellectual disability-cerebro-cerebellar malformation MONDO:0015655 Orphanet:352587 Orphanet:166478 obsolete cerebral malformation with epilepsy -MONDO:0018125 focal epilepsy-intellectual disability-cerebro-cerebellar malformation MONDO:0035863 Orphanet:352587 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0018127 16q24.1 microdeletion syndrome MONDO:0017017 Orphanet:352629 Orphanet:264683 obsolete primary interstitial lung disease specific to childhood due to alveolar vascular disorder -MONDO:0018127 16q24.1 microdeletion syndrome MONDO:0028569 Orphanet:352629 Orphanet:264992 obsolete genetic interstitial lung disease -MONDO:0018130 brain dopamine-serotonin vesicular transport disease MONDO:0018329 Orphanet:352649 Orphanet:391711 obsolete persistent combined dystonia -MONDO:0018130 brain dopamine-serotonin vesicular transport disease MONDO:0035862 Orphanet:352649 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome -MONDO:0018131 neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-hip dysplasia syndrome due to 9q21 microdeletion MONDO:8000031 Orphanet:352665 Orphanet:557494 obsolete subtype of a disorder -MONDO:0018132 obsolete congenital muscular alpha-dystroglycanopathy with brain and eye anomalies MONDO:0018276 Orphanet:352687 Orphanet:370953 muscular dystrophy-dystroglycanopathy -MONDO:0018132 obsolete congenital muscular alpha-dystroglycanopathy with brain and eye anomalies MONDO:0018869 Orphanet:352687 Orphanet:51577 cobblestone lissencephaly -MONDO:0018133 attenuated Chédiak-Higashi syndrome MONDO:0015918 Orphanet:352723 Orphanet:182070 obsolete rare neurodegenerative disease -MONDO:0018133 attenuated Chédiak-Higashi syndrome MONDO:0016132 Orphanet:352723 Orphanet:207015 obsolete rare hereditary disease with peripheral neuropathy -MONDO:0018136 minimal pigment oculocutaneous albinism type 1 MONDO:8000031 Orphanet:352734 Orphanet:557494 obsolete subtype of a disorder -MONDO:0018137 temperature-sensitive oculocutaneous albinism type 1 MONDO:8000031 Orphanet:352737 Orphanet:557494 obsolete subtype of a disorder -MONDO:0018141 pyruvate carboxylase deficiency, infantile form MONDO:8000031 Orphanet:353308 Orphanet:557494 obsolete subtype of a disorder -MONDO:0018142 pyruvate carboxylase deficiency, severe neonatal type MONDO:8000031 Orphanet:353314 Orphanet:557494 obsolete subtype of a disorder -MONDO:0018143 pyruvate carboxylase deficiency, benign type MONDO:8000031 Orphanet:353320 Orphanet:557494 obsolete subtype of a disorder -MONDO:0018144 obsolete congenital myasthenic syndromes with glycosylation defect MONDO:0017740 Orphanet:353327 Orphanet:309347 disorder of protein N-glycosylation -MONDO:0018144 obsolete congenital myasthenic syndromes with glycosylation defect MONDO:0018284 Orphanet:353327 Orphanet:371047 obsolete congenital disorder of glycosylation with neurological involvement -MONDO:0018144 obsolete congenital myasthenic syndromes with glycosylation defect MONDO:0018940 Orphanet:353327 Orphanet:590 congenital myasthenic syndrome -MONDO:0018144 obsolete congenital myasthenic syndromes with glycosylation defect MONDO:8000031 Orphanet:353327 Orphanet:557494 obsolete subtype of a disorder -MONDO:0018145 congenital retinal arteriovenous communication MONDO:0015145 Orphanet:353334 Orphanet:102006 obsolete neurovascular malformation -MONDO:0018145 congenital retinal arteriovenous communication MONDO:8000030 Orphanet:353334 Orphanet:377791 obsolete morphological anomaly -MONDO:0018146 idiopathic macular telangiectasia type 1 MONDO:0018833 Orphanet:353344 Orphanet:482092 obsolete rare idiopathic macular telangiectasia -MONDO:0018147 idiopathic macular telangiectasia type 3 MONDO:0018833 Orphanet:353351 Orphanet:482092 obsolete rare idiopathic macular telangiectasia -MONDO:0018148 vasoproliferative tumor of retina MONDO:0015121 Orphanet:353356 Orphanet:101950 obsolete rare eye tumor -MONDO:0018148 vasoproliferative tumor of retina MONDO:0019110 Orphanet:353356 Orphanet:71281 obsolete rare central nervous system or retinal vascular disease -MONDO:0018149 GM1 gangliosidosis MONDO:0019058 Orphanet:354 Orphanet:68385 obsolete neurometabolic disease -MONDO:0018149 GM1 gangliosidosis MONDO:0035862 Orphanet:354 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome -MONDO:0018151 coenzyme Q10 deficiency MONDO:0016402 Orphanet:35656 Orphanet:225700 obsolete mitochondrial disease with epilepsy -MONDO:0018151 coenzyme Q10 deficiency MONDO:0016403 Orphanet:35656 Orphanet:225703 obsolete mitochondrial disease with peripheral neuropathy -MONDO:0018151 coenzyme Q10 deficiency MONDO:0016578 Orphanet:35656 Orphanet:2443 obsolete mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies -MONDO:0018151 coenzyme Q10 deficiency MONDO:0019058 Orphanet:35656 Orphanet:68385 obsolete neurometabolic disease -MONDO:0018152 serpiginous choroiditis MONDO:0019541 Orphanet:35686 Orphanet:90061 obsolete non-infectious posterior uveitis -MONDO:0018153 Erdheim-Chester disease MONDO:0017955 Orphanet:35687 Orphanet:324930 obsolete granulomatous autoinflammatory syndrome -MONDO:0018155 lateral sclerosis MONDO:0015918 Orphanet:35689 Orphanet:182070 obsolete rare neurodegenerative disease -MONDO:0018156 3q26q27 microdeletion syndrome MONDO:8000032 Orphanet:356947 Orphanet:377789 obsolete malformation syndrome -MONDO:0018157 obsolete mitochondrial disorder due to a defect in mitochondrial protein synthesis MONDO:0016578 Orphanet:35696 Orphanet:2443 obsolete mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies -MONDO:0018158 mitochondrial DNA depletion syndrome MONDO:0015188 Orphanet:35698 Orphanet:104013 obsolete metabolic disorder with intestinal involvement -MONDO:0018160 hereditary retinoblastoma MONDO:0015966 Orphanet:357027 Orphanet:183619 obsolete hereditary eye tumor -MONDO:0018160 hereditary retinoblastoma MONDO:8000031 Orphanet:357027 Orphanet:557494 obsolete subtype of a disorder -MONDO:0018161 non-hereditary retinoblastoma MONDO:8000031 Orphanet:357034 Orphanet:557494 obsolete subtype of a disorder -MONDO:0018162 neurometabolic disorder due to serine deficiency MONDO:0019058 Orphanet:35705 Orphanet:68385 obsolete neurometabolic disease -MONDO:0018163 autosomal recessive cutis laxa type 2A MONDO:0018287 Orphanet:357058 Orphanet:371071 obsolete congenital disorder of glycosylation with epilepsy as a major feature -MONDO:0018163 autosomal recessive cutis laxa type 2A MONDO:0018292 Orphanet:357058 Orphanet:371195 obsolete congenital disorder of glycosylation-related bone disorder -MONDO:0018163 autosomal recessive cutis laxa type 2A MONDO:0018293 Orphanet:357058 Orphanet:371200 obsolete congenital disorder of glycosylation with skin involvement -MONDO:0018163 autosomal recessive cutis laxa type 2A MONDO:0035862 Orphanet:357058 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome -MONDO:0018164 arterial thoracic outlet syndrome MONDO:8000031 Orphanet:357107 Orphanet:557494 obsolete subtype of a disorder -MONDO:0018165 venous thoracic outlet syndrome MONDO:8000031 Orphanet:357131 Orphanet:557494 obsolete subtype of a disorder -MONDO:0018166 oral submucous fibrosis MONDO:0019038 Orphanet:357154 Orphanet:68329 obsolete rare maxillo-facial surgical disease -MONDO:0018168 primary non-essential cutis verticis gyrata MONDO:0018798 Orphanet:357225 Orphanet:477808 obsolete other genetic dermis disorder -MONDO:0018168 primary non-essential cutis verticis gyrata MONDO:0035862 Orphanet:357225 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome -MONDO:0018169 morning glory syndrome MONDO:0020253 Orphanet:35737 Orphanet:98683 obsolete syndrome with a symptomatic strabismus -MONDO:0018169 morning glory syndrome MONDO:8000030 Orphanet:35737 Orphanet:377791 obsolete morphological anomaly -MONDO:0018170 idiopathic nephrotic syndrome MONDO:0035466 Orphanet:357502 Orphanet:567564 obsolete nephrotic syndrome without extrarenal manifestations -MONDO:0018173 acute opioid poisoning MONDO:0035328 Orphanet:35889 Orphanet:556508 obsolete rare disorder due to poisoning -MONDO:0018175 combined deficiency of factor V and factor VIII MONDO:0019039 Orphanet:35909 Orphanet:68334 obsolete rare hemorrhagic disorder due to a constitutional coagulation factors defect -MONDO:0018178 intestinal lymphangiectasia MONDO:0015245 Orphanet:36204 Orphanet:117569 obsolete rare intestinal disease -MONDO:0018182 bullous impetigo MONDO:0019546 Orphanet:36237 Orphanet:90077 obsolete other acquired skin disease -MONDO:0018183 staphylococcal necrotizing pneumonia MONDO:0015118 Orphanet:36238 Orphanet:101944 obsolete rare pulmonary disease -MONDO:0018184 gastric linitis plastica MONDO:0018501 Orphanet:36273 Orphanet:423771 obsolete rare carcinoma of stomach -MONDO:0018185 obsolete congenital anomaly of the great veins MONDO:0018723 Orphanet:363189 Orphanet:458844 obsolete rare vascular malformation of major vessels -MONDO:0018185 obsolete congenital anomaly of the great veins MONDO:0019512 Orphanet:363189 Orphanet:88991 congenital heart malformation -MONDO:0018186 obsolete ring chromosome MONDO:0020049 Orphanet:363203 Orphanet:98127 autosomal anomaly -MONDO:0018187 obsolete hereditary syndromic Pierre Robin syndrome MONDO:0015501 Orphanet:363294 Orphanet:156237 obsolete syndrome or malformation associated with head and neck malformations -MONDO:0018188 obsolete hereditary intestinal polyposis MONDO:0015616 Orphanet:363314 Orphanet:165655 obsolete rare genetic intestinal disease -MONDO:0018190 autosomal dominant childhood-onset proximal spinal muscular atrophy MONDO:0016224 Orphanet:363447 Orphanet:211037 obsolete autosomal dominant proximal spinal muscular atrophy -MONDO:0018191 obsolete tumor of testis and paratestis MONDO:0015931 Orphanet:363472 Orphanet:182114 obsolete rare urogenital tumor -MONDO:0018192 paratesticular adenocarcinoma MONDO:0018191 Orphanet:363478 Orphanet:363472 obsolete tumor of testis and paratestis -MONDO:0018193 testicular teratoma MONDO:0018191 Orphanet:363483 Orphanet:363472 obsolete tumor of testis and paratestis -MONDO:0018197 mitochondrial DNA depletion syndrome, hepatocerebrorenal form MONDO:0019058 Orphanet:363534 Orphanet:68385 obsolete neurometabolic disease -MONDO:0018197 mitochondrial DNA depletion syndrome, hepatocerebrorenal form MONDO:0019744 Orphanet:363534 Orphanet:93603 obsolete rare renal tubular disease -MONDO:0018198 acute encephalopathy with biphasic seizures and late reduced diffusion MONDO:0018200 Orphanet:363549 Orphanet:363567 obsolete acute encephalopathy with inflammation-mediated status epilepticus -MONDO:0018199 new-onset refractory status epilepticus MONDO:0018200 Orphanet:363558 Orphanet:363567 obsolete acute encephalopathy with inflammation-mediated status epilepticus -MONDO:0018200 obsolete acute encephalopathy with inflammation-mediated status epilepticus MONDO:0015657 Orphanet:363567 Orphanet:166484 obsolete inflammatory and autoimmune disease with epilepsy -MONDO:0018200 obsolete acute encephalopathy with inflammation-mediated status epilepticus MONDO:0020072 Orphanet:363567 Orphanet:98259 childhood-onset epilepsy syndrome -MONDO:0018201 extragonadal germ cell tumor MONDO:0018080 Orphanet:363579 Orphanet:3399 obsolete rare germ cell tumor -MONDO:0018202 gonadal germ cell tumor MONDO:0018080 Orphanet:363582 Orphanet:3399 obsolete rare germ cell tumor -MONDO:0018203 LMNA-related cardiocutaneous progeria syndrome MONDO:0019996 Orphanet:363618 Orphanet:97929 obsolete rare cardiac disease -MONDO:0018203 LMNA-related cardiocutaneous progeria syndrome MONDO:0020029 Orphanet:363618 Orphanet:98054 obsolete rare genetic cardiac disease -MONDO:0018203 LMNA-related cardiocutaneous progeria syndrome MONDO:0029813 Orphanet:363618 Orphanet:300766 obsolete laminopathy with premature aging -MONDO:0018204 20q11.2 microduplication syndrome MONDO:0035863 Orphanet:363659 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0018204 20q11.2 microduplication syndrome MONDO:8000032 Orphanet:363659 Orphanet:377789 obsolete malformation syndrome -MONDO:0018205 distal monosomy 1q MONDO:0035863 Orphanet:36367 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0018205 distal monosomy 1q MONDO:8000032 Orphanet:36367 Orphanet:377789 obsolete malformation syndrome -MONDO:0018207 2p13.2 microdeletion syndrome MONDO:0035863 Orphanet:363680 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0018207 2p13.2 microdeletion syndrome MONDO:8000032 Orphanet:363680 Orphanet:377789 obsolete malformation syndrome -MONDO:0018208 neurofibromatosis type 1 due to NF1 mutation or intragenic deletion MONDO:8000031 Orphanet:363700 Orphanet:557494 obsolete subtype of a disorder -MONDO:0018209 Alexander disease type I MONDO:8000031 Orphanet:363717 Orphanet:557494 obsolete subtype of a disorder -MONDO:0018210 Alexander disease type II MONDO:0034962 Orphanet:363722 Orphanet:519343 obsolete rare ophthalmic disorder with cortical involvement -MONDO:0018210 Alexander disease type II MONDO:8000031 Orphanet:363722 Orphanet:557494 obsolete subtype of a disorder -MONDO:0018211 Balint syndrome MONDO:0020009 Orphanet:363746 Orphanet:98006 obsolete rare neurologic disease -MONDO:0018212 familial cervical artery dissection MONDO:0015953 Orphanet:36382 Orphanet:183503 obsolete genetic central nervous system and retinal vascular disease -MONDO:0018212 familial cervical artery dissection MONDO:0019110 Orphanet:36382 Orphanet:71281 obsolete rare central nervous system or retinal vascular disease -MONDO:0018213 hereditary sensory and autonomic neuropathy type 1 MONDO:0015365 Orphanet:36386 Orphanet:140474 obsolete autosomal dominant hereditary sensory and autonomic neuropathy -MONDO:0018213 hereditary sensory and autonomic neuropathy type 1 MONDO:0018119 Orphanet:36386 Orphanet:352309 obsolete disorder of phospholipids, sphingolipids and fatty acids biosynthesis with peripheral nerves predominant involvement -MONDO:0018214 generalized epilepsy with febrile seizures plus MONDO:0035862 Orphanet:36387 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome -MONDO:0018215 paraneoplastic neurologic syndrome MONDO:0020009 Orphanet:36388 Orphanet:98006 obsolete rare neurologic disease -MONDO:0018216 Koolen-de Vries syndrome due to 17q21.31 microdeletion syndrome MONDO:8000031 Orphanet:363958 Orphanet:557494 obsolete subtype of a disorder -MONDO:0018217 Koolen-de Vries syndrome due to a point mutation MONDO:8000031 Orphanet:363965 Orphanet:557494 obsolete subtype of a disorder -MONDO:0018218 autosomal recessive cerebral atrophy MONDO:0015918 Orphanet:363969 Orphanet:182070 obsolete rare neurodegenerative disease -MONDO:0018221 immune hydrops fetalis MONDO:8000031 Orphanet:364013 Orphanet:557494 obsolete subtype of a disorder MONDO:0018222 obsolete X-linked intellectual disability due to GRIA3 anomalies MONDO:0000001 Orphanet:364028 Orphanet:377788 disease -MONDO:0018222 obsolete X-linked intellectual disability due to GRIA3 anomalies MONDO:0015159 Orphanet:364028 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0018222 obsolete X-linked intellectual disability due to GRIA3 anomalies MONDO:0035863 Orphanet:364028 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0018226 infantile epileptic-dyskinetic encephalopathy MONDO:0015921 Orphanet:364063 Orphanet:182079 obsolete ARX-related epileptic encephalopathy -MONDO:0018226 infantile epileptic-dyskinetic encephalopathy MONDO:0018329 Orphanet:364063 Orphanet:391711 obsolete persistent combined dystonia -MONDO:0018228 bipartite talus MONDO:0015227 Orphanet:364198 Orphanet:109011 obsolete non-syndromic limb malformation -MONDO:0018228 bipartite talus MONDO:0018235 Orphanet:364198 Orphanet:364568 obsolete dysostosis with limb anomaly as a major feature -MONDO:0018228 bipartite talus MONDO:0018455 Orphanet:364198 Orphanet:404571 obsolete dysostosis of genetic origin with limb anomaly as a major feature -MONDO:0018228 bipartite talus MONDO:8000030 Orphanet:364198 Orphanet:377791 obsolete morphological anomaly -MONDO:0018229 Stevens-Johnson syndrome MONDO:8000031 Orphanet:36426 Orphanet:557494 obsolete subtype of a disorder -MONDO:0018230 skeletal dysplasia MONDO:0015328 Orphanet:364526 Orphanet:139012 obsolete rare bone development disorder -MONDO:0018230 skeletal dysplasia MONDO:0015958 Orphanet:364526 Orphanet:183524 obsolete rare genetic bone disease -MONDO:0018230 skeletal dysplasia MONDO:0018457 Orphanet:364526 Orphanet:404584 obsolete rare genetic bone development disorder -MONDO:0018230 skeletal dysplasia MONDO:0019684 Orphanet:364526 Orphanet:93419 obsolete rare bone disease -MONDO:0018231 obsolete primary bone dysplasia with progressive ossification of skin, skeletal muscle, fascia, tendons and ligaments MONDO:0018230 Orphanet:364531 Orphanet:364526 skeletal dysplasia -MONDO:0018232 obsolete primary bone dysplasia with micromelia MONDO:0018230 Orphanet:364536 Orphanet:364526 skeletal dysplasia -MONDO:0018234 dysostosis MONDO:0015328 Orphanet:364559 Orphanet:139012 obsolete rare bone development disorder -MONDO:0018234 dysostosis MONDO:0019684 Orphanet:364559 Orphanet:93419 obsolete rare bone disease -MONDO:0018235 obsolete dysostosis with limb anomaly as a major feature MONDO:0018234 Orphanet:364568 Orphanet:364559 dysostosis -MONDO:0018236 obsolete dysostosis with limb and face anomalies as a major feature MONDO:0018235 Orphanet:364571 Orphanet:364568 obsolete dysostosis with limb anomaly as a major feature -MONDO:0018236 obsolete dysostosis with limb and face anomalies as a major feature MONDO:0018455 Orphanet:364571 Orphanet:404571 obsolete dysostosis of genetic origin with limb anomaly as a major feature -MONDO:0018237 acrofacial dysostosis MONDO:0018236 Orphanet:364574 Orphanet:364571 obsolete dysostosis with limb and face anomalies as a major feature -MONDO:0018239 obsolete aggrecan-related bone disorder MONDO:0031799 Orphanet:364817 Orphanet:364803 obsolete rare bone disease related to a common gene or pathway defect -MONDO:0018240 TRPV4-related bone disorder MONDO:0031799 Orphanet:364820 Orphanet:364803 obsolete rare bone disease related to a common gene or pathway defect -MONDO:0018241 obsolete primary short bowel syndrome MONDO:0015183 Orphanet:365563 Orphanet:104008 short bowel syndrome -MONDO:0018241 obsolete primary short bowel syndrome MONDO:0015616 Orphanet:365563 Orphanet:165655 obsolete rare genetic intestinal disease -MONDO:0018242 autoimmune hypoparathyroidism MONDO:0015896 Orphanet:36913 Orphanet:181405 obsolete rare hypoparathyroidism -MONDO:0018243 intellectual disability-hyperkinetic movement-truncal ataxia syndrome MONDO:0015957 Orphanet:369847 Orphanet:183521 obsolete rare genetic movement disorder -MONDO:0018243 intellectual disability-hyperkinetic movement-truncal ataxia syndrome MONDO:0017645 Orphanet:369847 Orphanet:306715 obsolete rare choreic movement disorder -MONDO:0018243 intellectual disability-hyperkinetic movement-truncal ataxia syndrome MONDO:0035862 Orphanet:369847 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome -MONDO:0018244 obesity due to SIM1 deficiency MONDO:8000031 Orphanet:369873 Orphanet:557494 obsolete subtype of a disorder -MONDO:0018245 2p21 microdeletion syndrome without cystinuria MONDO:0018246 Orphanet:369881 Orphanet:369886 obsolete homozygous 2p21 microdeletion syndrome -MONDO:0018245 2p21 microdeletion syndrome without cystinuria MONDO:8000032 Orphanet:369881 Orphanet:377789 obsolete malformation syndrome -MONDO:0018246 obsolete homozygous 2p21 microdeletion syndrome MONDO:0016884 Orphanet:369886 Orphanet:261866 partial deletion of the short arm of chromosome 2 -MONDO:0018247 CADDS MONDO:0015115 Orphanet:369942 Orphanet:101940 obsolete rare genetic metabolic liver disease -MONDO:0018247 CADDS MONDO:0019058 Orphanet:369942 Orphanet:68385 obsolete neurometabolic disease -MONDO:0018248 intellectual disability-seizures-macrocephaly-obesity syndrome MONDO:0016565 Orphanet:369950 Orphanet:240371 obsolete syndromic genetic obesity -MONDO:0018248 intellectual disability-seizures-macrocephaly-obesity syndrome MONDO:0016998 Orphanet:369950 Orphanet:263708 obsolete complex chromosomal rearrangement -MONDO:0018248 intellectual disability-seizures-macrocephaly-obesity syndrome MONDO:0035863 Orphanet:369950 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0018249 finger hyperphalangy - toe anomalies - severe pectus excavatum syndrome MONDO:0017434 Orphanet:369979 Orphanet:294959 obsolete syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy -MONDO:0018249 finger hyperphalangy - toe anomalies - severe pectus excavatum syndrome MONDO:8000032 Orphanet:369979 Orphanet:377789 obsolete malformation syndrome -MONDO:0018250 diffuse palmoplantar keratoderma with painful fissures MONDO:0020093 Orphanet:369999 Orphanet:98349 obsolete autosomal dominant isolated diffuse palmoplantar keratoderma -MONDO:0018251 obsolete glycogen storage disease due to phosphorylase kinase deficiency MONDO:0002412 Orphanet:370 Orphanet:79201 disorder of glycogen metabolism -MONDO:0018252 focal palmoplantar keratoderma with joint keratoses MONDO:0017673 Orphanet:370002 Orphanet:307846 obsolete isolated focal palmoplantar keratoderma -MONDO:0018253 intellectual disability-facial dysmorphism-hand anomalies syndrome MONDO:0035863 Orphanet:370010 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0018253 intellectual disability-facial dysmorphism-hand anomalies syndrome MONDO:8000032 Orphanet:370010 Orphanet:377789 obsolete malformation syndrome -MONDO:0018256 acute myeloid leukemia with t(8;16)(p11;p13) translocation MONDO:0020078 Orphanet:370026 Orphanet:98277 obsolete acute myeloid leukemia with recurrent genetic anomaly -MONDO:0018257 familial syringomyelia MONDO:0026173 Orphanet:370034 Orphanet:183515 obsolete rare genetic medullar disease -MONDO:0018257 familial syringomyelia MONDO:8000031 Orphanet:370034 Orphanet:557494 obsolete subtype of a disorder -MONDO:0018258 Angora hair nevus MONDO:0017414 Orphanet:370039 Orphanet:294057 obsolete rare nevus -MONDO:0018259 didymosis aplasticosebacea MONDO:0017414 Orphanet:370046 Orphanet:294057 obsolete rare nevus -MONDO:0018260 scalp syndrome MONDO:0017414 Orphanet:370052 Orphanet:294057 obsolete rare nevus -MONDO:0018261 Nevada syndrome MONDO:0017414 Orphanet:370059 Orphanet:294057 obsolete rare nevus -MONDO:0018262 obsolete fetal anticonvulsant syndrome MONDO:0016677 Orphanet:370068 Orphanet:251529 toxic or drug-related embryofetopathy -MONDO:0018263 fetal carbamazepine syndrome MONDO:0018262 Orphanet:370076 Orphanet:370068 obsolete fetal anticonvulsant syndrome -MONDO:0018263 fetal carbamazepine syndrome MONDO:8000032 Orphanet:370076 Orphanet:377789 obsolete malformation syndrome -MONDO:0018265 obsolete rare disorder with dystonia and other neurologic or systemic manifestation MONDO:0019049 Orphanet:370106 Orphanet:68363 obsolete rare dystonia -MONDO:0018265 obsolete rare disorder with dystonia and other neurologic or systemic manifestation MONDO:0044807 Orphanet:370106 Orphanet:391799 inherited dystonia -MONDO:0018266 ataxia - telangiectasia variant MONDO:0018329 Orphanet:370109 Orphanet:391711 obsolete persistent combined dystonia -MONDO:0018273 XYLT1-congenital disorder of glycosylation MONDO:0017742 Orphanet:370930 Orphanet:309450 obsolete disorder of O-xylosylglycan synthesis -MONDO:0018273 XYLT1-congenital disorder of glycosylation MONDO:0018284 Orphanet:370930 Orphanet:371047 obsolete congenital disorder of glycosylation with neurological involvement -MONDO:0018273 XYLT1-congenital disorder of glycosylation MONDO:0018296 Orphanet:370930 Orphanet:371235 obsolete congenital disorder of glycosylation with developmental anomaly -MONDO:0018273 XYLT1-congenital disorder of glycosylation MONDO:0035863 Orphanet:370930 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0018274 GM3 synthase deficiency MONDO:0018118 Orphanet:370933 Orphanet:352306 obsolete disorder of phospholipids, sphingolipids and fatty acids biosynthesis with central nervous system predominant involvement -MONDO:0018274 GM3 synthase deficiency MONDO:0018287 Orphanet:370933 Orphanet:371071 obsolete congenital disorder of glycosylation with epilepsy as a major feature -MONDO:0018274 GM3 synthase deficiency MONDO:0018293 Orphanet:370933 Orphanet:371200 obsolete congenital disorder of glycosylation with skin involvement -MONDO:0018274 GM3 synthase deficiency MONDO:0035862 Orphanet:370933 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome MONDO:0018277 obsolete congenital muscular dystrophy with cerebellar involvement MONDO:0000001 Orphanet:370959 Orphanet:377788 disease -MONDO:0018277 obsolete congenital muscular dystrophy with cerebellar involvement MONDO:0017745 Orphanet:370959 Orphanet:309469 obsolete disorder of O-mannosylglycan synthesis -MONDO:0018277 obsolete congenital muscular dystrophy with cerebellar involvement MONDO:0018276 Orphanet:370959 Orphanet:370953 muscular dystrophy-dystroglycanopathy -MONDO:0018277 obsolete congenital muscular dystrophy with cerebellar involvement MONDO:0018284 Orphanet:370959 Orphanet:371047 obsolete congenital disorder of glycosylation with neurological involvement -MONDO:0018277 obsolete congenital muscular dystrophy with cerebellar involvement MONDO:0035862 Orphanet:370959 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome -MONDO:0018278 congenital muscular dystrophy with intellectual disability MONDO:0017745 Orphanet:370968 Orphanet:309469 obsolete disorder of O-mannosylglycan synthesis -MONDO:0018278 congenital muscular dystrophy with intellectual disability MONDO:0018284 Orphanet:370968 Orphanet:371047 obsolete congenital disorder of glycosylation with neurological involvement -MONDO:0018278 congenital muscular dystrophy with intellectual disability MONDO:0035862 Orphanet:370968 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome MONDO:0018279 obsolete congenital muscular dystrophy without intellectual disability MONDO:0000001 Orphanet:370980 Orphanet:377788 disease -MONDO:0018279 obsolete congenital muscular dystrophy without intellectual disability MONDO:0017745 Orphanet:370980 Orphanet:309469 obsolete disorder of O-mannosylglycan synthesis -MONDO:0018279 obsolete congenital muscular dystrophy without intellectual disability MONDO:0018276 Orphanet:370980 Orphanet:370953 muscular dystrophy-dystroglycanopathy -MONDO:0018279 obsolete congenital muscular dystrophy without intellectual disability MONDO:0018284 Orphanet:370980 Orphanet:371047 obsolete congenital disorder of glycosylation with neurological involvement -MONDO:0018280 muscle-eye-brain disease with bilateral multicystic leucodystrophy MONDO:0018132 Orphanet:370997 Orphanet:352687 obsolete congenital muscular alpha-dystroglycanopathy with brain and eye anomalies -MONDO:0018280 muscle-eye-brain disease with bilateral multicystic leucodystrophy MONDO:0018283 Orphanet:370997 Orphanet:371040 obsolete primary qualitative or quantitative defects of alpha-dystroglycan -MONDO:0018283 obsolete primary qualitative or quantitative defects of alpha-dystroglycan MONDO:0018282 Orphanet:371040 Orphanet:371024 qualitative or quantitative defects of alpha-dystroglycan -MONDO:0018284 obsolete congenital disorder of glycosylation with neurological involvement MONDO:0019058 Orphanet:371047 Orphanet:68385 obsolete neurometabolic disease -MONDO:0018287 obsolete congenital disorder of glycosylation with epilepsy as a major feature MONDO:0015656 Orphanet:371071 Orphanet:166481 obsolete metabolic disease with epilepsy -MONDO:0018287 obsolete congenital disorder of glycosylation with epilepsy as a major feature MONDO:0018284 Orphanet:371071 Orphanet:371047 obsolete congenital disorder of glycosylation with neurological involvement -MONDO:0018288 obsolete congenital disorder of glycosylation with hepatic involvement MONDO:0015115 Orphanet:371157 Orphanet:101940 obsolete rare genetic metabolic liver disease -MONDO:0018289 obsolete congenital disorder of glycosylation with dilated cardiomyopathy MONDO:0016333 Orphanet:371176 Orphanet:217607 familial dilated cardiomyopathy -MONDO:0018290 obsolete congenital disorder of glycosylation with cardiac malformation as a major feature MONDO:0015506 Orphanet:371183 Orphanet:156532 obsolete rare syndrome with cardiac malformations -MONDO:0018290 obsolete congenital disorder of glycosylation with cardiac malformation as a major feature MONDO:0018296 Orphanet:371183 Orphanet:371235 obsolete congenital disorder of glycosylation with developmental anomaly -MONDO:0018291 obsolete congenital disorder of glycosylation with intestinal involvement MONDO:0015188 Orphanet:371188 Orphanet:104013 obsolete metabolic disorder with intestinal involvement -MONDO:0018292 obsolete congenital disorder of glycosylation-related bone disorder MONDO:0018296 Orphanet:371195 Orphanet:371235 obsolete congenital disorder of glycosylation with developmental anomaly -MONDO:0018292 obsolete congenital disorder of glycosylation-related bone disorder MONDO:0031799 Orphanet:371195 Orphanet:364803 obsolete rare bone disease related to a common gene or pathway defect -MONDO:0018293 obsolete congenital disorder of glycosylation with skin involvement MONDO:0019301 Orphanet:371200 Orphanet:79387 obsolete metabolic disease with skin involvement -MONDO:0018294 obsolete congenital disorder of glycosylation with nephropathy as a major feature MONDO:0019743 Orphanet:371207 Orphanet:93593 obsolete nephropathy secondary to a storage or other metabolic disease -MONDO:0018295 obsolete congenital disorder of glycosylation with deafness as a major feature MONDO:0018296 Orphanet:371212 Orphanet:371235 obsolete congenital disorder of glycosylation with developmental anomaly -MONDO:0018295 obsolete congenital disorder of glycosylation with deafness as a major feature MONDO:0019589 Orphanet:371212 Orphanet:90642 obsolete syndromic genetic hearing loss -MONDO:0018296 obsolete congenital disorder of glycosylation with developmental anomaly MONDO:0015327 Orphanet:371235 Orphanet:139009 developmental anomaly of metabolic origin -MONDO:0018299 obsolete sphingolipidosis with epilepsy MONDO:0016397 Orphanet:371442 Orphanet:225681 obsolete lysosomal disease with epilepsy -MONDO:0018301 interstitial cystitis MONDO:0015106 Orphanet:37202 Orphanet:101433 obsolete rare urogenital disease -MONDO:0018302 acquired kinky hair syndrome MONDO:0019546 Orphanet:37559 Orphanet:90077 obsolete other acquired skin disease -MONDO:0018304 Schnitzler syndrome MONDO:8000032 Orphanet:37748 Orphanet:377789 obsolete malformation syndrome -MONDO:0018305 chronic granulomatous disease MONDO:0015187 Orphanet:379 Orphanet:104012 obsolete rare inflammatory bowel disease -MONDO:0018305 chronic granulomatous disease MONDO:0017023 Orphanet:379 Orphanet:264714 obsolete secondary interstitial lung disease specific to childhood associated with a granulomatous disease -MONDO:0018305 chronic granulomatous disease MONDO:0017259 Orphanet:379 Orphanet:280926 obsolete systemic diseases with anterior uveitis -MONDO:0018305 chronic granulomatous disease MONDO:0017260 Orphanet:379 Orphanet:280930 obsolete systemic diseases with posterior uveitis -MONDO:0018305 chronic granulomatous disease MONDO:0017261 Orphanet:379 Orphanet:280933 obsolete systemic diseases with panuveitis -MONDO:0018305 chronic granulomatous disease MONDO:0019305 Orphanet:379 Orphanet:79391 obsolete immune deficiency with skin involvement -MONDO:0018305 chronic granulomatous disease MONDO:0026166 Orphanet:379 Orphanet:183494 obsolete genetic immune deficiency with skin involvement -MONDO:0018305 chronic granulomatous disease MONDO:0035037 Orphanet:379 Orphanet:522504 obsolete rare genetic disorder of the visual organs -MONDO:0018306 Griscelli syndrome MONDO:0035862 Orphanet:381 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome -MONDO:0018307 neurodegeneration with brain iron accumulation MONDO:0017641 Orphanet:385 Orphanet:306695 obsolete miscellaneous movement disorder due to neurodegenerative disease -MONDO:0018307 neurodegeneration with brain iron accumulation MONDO:0017662 Orphanet:385 Orphanet:307058 obsolete miscellaneous movement disorder due to genetic neurodegenerative disease -MONDO:0018307 neurodegeneration with brain iron accumulation MONDO:0019058 Orphanet:385 Orphanet:68385 obsolete neurometabolic disease -MONDO:0018307 neurodegeneration with brain iron accumulation MONDO:0020136 Orphanet:385 Orphanet:98534 obsolete neurodegenerative disease with dementia -MONDO:0018307 neurodegeneration with brain iron accumulation MONDO:0021037 Orphanet:385 Orphanet:276058 obsolete genetic neurodegenerative disease with dementia -MONDO:0018308 liver mesenchymal hamartoma MONDO:0017632 Orphanet:386 Orphanet:306636 obsolete rare tumor of liver and intrahepatic biliary tract -MONDO:0018309 Hirschsprung disease MONDO:0015184 Orphanet:388 Orphanet:104009 obsolete rare disease involving intestinal motility -MONDO:0018310 Langerhans cell histiocytosis MONDO:0015118 Orphanet:389 Orphanet:101944 obsolete rare pulmonary disease -MONDO:0018312 histoplasmosis MONDO:0015578 Orphanet:390 Orphanet:163591 obsolete rare mycosis -MONDO:0018315 X-linked osteoporosis with fractures MONDO:0019704 Orphanet:391330 Orphanet:93446 obsolete primary bone dysplasia with decreased bone density -MONDO:0018316 fatal post-viral neurodegenerative disorder MONDO:0015144 Orphanet:391343 Orphanet:102005 obsolete brain inflammatory disease -MONDO:0018316 fatal post-viral neurodegenerative disorder MONDO:0015918 Orphanet:391343 Orphanet:182070 obsolete rare neurodegenerative disease -MONDO:0018317 growth retardation-mild developmental delay-chronic hepatitis syndrome MONDO:0015114 Orphanet:391366 Orphanet:101939 obsolete rare parenchymal liver disease -MONDO:0018317 growth retardation-mild developmental delay-chronic hepatitis syndrome MONDO:0015508 Orphanet:391366 Orphanet:156604 obsolete hereditary parenchymatous liver disease -MONDO:0018318 obsolete disorder of asparagine metabolism MONDO:0019189 Orphanet:391381 Orphanet:79062 inborn disorder of amino acid and other organic acid metabolism -MONDO:0018320 primary microcephaly-mild intellectual disability-young-onset diabetes syndrome MONDO:0015887 Orphanet:391408 Orphanet:181376 obsolete rare diabetes mellitus type 2 -MONDO:0018320 primary microcephaly-mild intellectual disability-young-onset diabetes syndrome MONDO:0017119 Orphanet:391408 Orphanet:269528 obsolete syndrome with microcephaly as major feature -MONDO:0018320 primary microcephaly-mild intellectual disability-young-onset diabetes syndrome MONDO:0035863 Orphanet:391408 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0018321 atypical juvenile parkinsonism MONDO:0017635 Orphanet:391411 Orphanet:306666 obsolete parkinsonian syndrome due to neurodegenerative disease -MONDO:0018321 atypical juvenile parkinsonism MONDO:0017661 Orphanet:391411 Orphanet:307055 obsolete rare parkinsonian syndrome due to genetic neurodegenerative disease -MONDO:0018322 HSD10 disease, infantile type MONDO:8000031 Orphanet:391428 Orphanet:557494 obsolete subtype of a disorder -MONDO:0018323 HSD10 disease, neonatal type MONDO:8000031 Orphanet:391457 Orphanet:557494 obsolete subtype of a disorder -MONDO:0018324 adult-onset myasthenia gravis MONDO:8000031 Orphanet:391490 Orphanet:557494 obsolete subtype of a disorder -MONDO:0018325 juvenile myasthenia gravis MONDO:8000031 Orphanet:391497 Orphanet:557494 obsolete subtype of a disorder -MONDO:0018326 transient neonatal myasthenia gravis MONDO:8000031 Orphanet:391504 Orphanet:557494 obsolete subtype of a disorder -MONDO:0018327 glomus tumor MONDO:0019099 Orphanet:391651 Orphanet:71209 obsolete rare soft tissue tumor -MONDO:0018328 homozygous familial hypercholesterolemia MONDO:0018799 Orphanet:391665 Orphanet:477811 obsolete rare hypercholesterolemia -MONDO:0018329 obsolete persistent combined dystonia MONDO:0020065 Orphanet:391711 Orphanet:98203 combined dystonia -MONDO:0018332 multiple acyl-CoA dehydrogenase deficiency, severe neonatal type MONDO:8000031 Orphanet:394529 Orphanet:557494 obsolete subtype of a disorder -MONDO:0018333 multiple acyl-CoA dehydrogenase deficiency, mild type MONDO:8000031 Orphanet:394532 Orphanet:557494 obsolete subtype of a disorder -MONDO:0018334 chronic hiccup MONDO:0018497 Orphanet:396 Orphanet:423662 obsolete rare autonomic nervous system disorder -MONDO:0018336 obsolete Silver-Russell syndrome due to a point mutation MONDO:0008394 Orphanet:397590 Orphanet:813 Silver-Russell syndrome -MONDO:0018336 obsolete Silver-Russell syndrome due to a point mutation MONDO:8000031 Orphanet:397590 Orphanet:557494 obsolete subtype of a disorder MONDO:0018337 obsolete severe neonatal lactic acidosis due to NFS1-ISD11 complex deficiency MONDO:0000001 Orphanet:397593 Orphanet:377788 disease -MONDO:0018337 obsolete severe neonatal lactic acidosis due to NFS1-ISD11 complex deficiency MONDO:0017718 Orphanet:397593 Orphanet:309136 obsolete mitochondrial disorder due to a defect in assembly or maturation of the respiratory chain complexes -MONDO:0018339 PrP systemic amyloidosis MONDO:0015245 Orphanet:397606 Orphanet:117569 obsolete rare intestinal disease -MONDO:0018339 PrP systemic amyloidosis MONDO:0015365 Orphanet:397606 Orphanet:140474 obsolete autosomal dominant hereditary sensory and autonomic neuropathy -MONDO:0018339 PrP systemic amyloidosis MONDO:0017234 Orphanet:397606 Orphanet:280400 obsolete inherited prion disease MONDO:0018340 obsolete hereditary isolated aplastic anemia MONDO:0000001 Orphanet:397692 Orphanet:377788 disease -MONDO:0018340 obsolete hereditary isolated aplastic anemia MONDO:0001713 Orphanet:397692 Orphanet:68383 inherited aplastic anemia -MONDO:0018341 3q27.3 microdeletion syndrome MONDO:0035863 Orphanet:397695 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0018342 Joubert syndrome with Jeune asphyxiating thoracic dystrophy MONDO:8000032 Orphanet:397715 Orphanet:377789 obsolete malformation syndrome -MONDO:0018343 periodic paralysis with later-onset distal motor neuropathy MONDO:0016793 Orphanet:397750 Orphanet:254776 obsolete mitochondrial oxidative phosphorylation disorder due to a point mutation of mitochondrial DNA MONDO:0018344 obsolete periodic paralysis with transient compartment-like syndrome MONDO:0000001 Orphanet:397755 Orphanet:377788 disease -MONDO:0018344 obsolete periodic paralysis with transient compartment-like syndrome MONDO:0000995 Orphanet:397755 Orphanet:371433 familial periodic paralysis -MONDO:0018344 obsolete periodic paralysis with transient compartment-like syndrome MONDO:0016122 Orphanet:397755 Orphanet:206976 periodic paralysis -MONDO:0018344 obsolete periodic paralysis with transient compartment-like syndrome MONDO:0957113 Orphanet:397755 Orphanet:98740 neurological muscular channelopathy due to a genetic calcium channel defect -MONDO:0018346 ferro-cerebro-cutaneous syndrome MONDO:0015114 Orphanet:397922 Orphanet:101939 obsolete rare parenchymal liver disease -MONDO:0018346 ferro-cerebro-cutaneous syndrome MONDO:0015115 Orphanet:397922 Orphanet:101940 obsolete rare genetic metabolic liver disease -MONDO:0018346 ferro-cerebro-cutaneous syndrome MONDO:0015508 Orphanet:397922 Orphanet:156604 obsolete hereditary parenchymatous liver disease -MONDO:0018346 ferro-cerebro-cutaneous syndrome MONDO:0015918 Orphanet:397922 Orphanet:182070 obsolete rare neurodegenerative disease -MONDO:0018347 severe intellectual disability-progressive postnatal microcephaly- midline stereotypic hand movements syndrome MONDO:0035862 Orphanet:397933 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome -MONDO:0018349 MAN1B1-congenital disorder of glycosylation MONDO:0018284 Orphanet:397941 Orphanet:371047 obsolete congenital disorder of glycosylation with neurological involvement -MONDO:0018349 MAN1B1-congenital disorder of glycosylation MONDO:0035862 Orphanet:397941 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome -MONDO:0018353 refractory celiac disease MONDO:0015245 Orphanet:398063 Orphanet:117569 obsolete rare intestinal disease -MONDO:0018354 Prader-Willi-like syndrome MONDO:0015890 Orphanet:398073 Orphanet:181387 obsolete rare disorder with congenital hypogonadotropic hypogonadism -MONDO:0018354 Prader-Willi-like syndrome MONDO:0016565 Orphanet:398073 Orphanet:240371 obsolete syndromic genetic obesity -MONDO:0018354 Prader-Willi-like syndrome MONDO:0020016 Orphanet:398073 Orphanet:98033 obsolete rare neurologic disease with psychiatric involvement -MONDO:0018354 Prader-Willi-like syndrome MONDO:0032221 Orphanet:398073 Orphanet:399846 obsolete rare disorder with female infertility due to a congenital hypogonadotropic hypogonadism -MONDO:0018354 Prader-Willi-like syndrome MONDO:0035863 Orphanet:398073 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0018356 secondary neonatal autoimmune disease MONDO:0015939 Orphanet:398091 Orphanet:182228 obsolete systemic autoimmune disease -MONDO:0018362 persistent idiopathic facial pain MONDO:0020009 Orphanet:398147 Orphanet:98006 obsolete rare neurologic disease -MONDO:0018363 focal facial dermal dysplasia MONDO:8000032 Orphanet:398166 Orphanet:377789 obsolete malformation syndrome -MONDO:0018371 nebulin-related early-onset distal myopathy MONDO:0016109 Orphanet:399103 Orphanet:206653 obsolete autosomal recessive distal myopathy -MONDO:0018377 obsolete rare hereditary disease with avascular necrosis MONDO:0018374 Orphanet:399185 Orphanet:399169 secondary avascular necrosis -MONDO:0018377 obsolete rare hereditary disease with avascular necrosis MONDO:0018384 Orphanet:399185 Orphanet:399388 obsolete avascular necrosis of genetic origin -MONDO:0018383 osteonecrosis of genetic origin MONDO:0015958 Orphanet:399380 Orphanet:183524 obsolete rare genetic bone disease -MONDO:0018384 obsolete avascular necrosis of genetic origin MONDO:0018383 Orphanet:399388 Orphanet:399380 osteonecrosis of genetic origin -MONDO:0018385 obsolete osteochondrosis of genetic origin MONDO:0018383 Orphanet:399391 Orphanet:399380 osteonecrosis of genetic origin -MONDO:0018386 obsolete rare male infertility due to hypothalamic-pituitary-gonadal axis disorder MONDO:0020025 Orphanet:399572 Orphanet:98048 obsolete rare male infertility -MONDO:0018387 obsolete rare male infertility due to adrenal disorder MONDO:0018386 Orphanet:399584 Orphanet:399572 obsolete rare male infertility due to hypothalamic-pituitary-gonadal axis disorder -MONDO:0018388 obsolete rare male infertility due to testicular endocrine disorder MONDO:0018386 Orphanet:399685 Orphanet:399572 obsolete rare male infertility due to hypothalamic-pituitary-gonadal axis disorder -MONDO:0018388 obsolete rare male infertility due to testicular endocrine disorder MONDO:0018405 Orphanet:399685 Orphanet:399983 obsolete rare male infertility due to hypothalamic-pituitary-gonadal axis disorder of genetic origin -MONDO:0018389 obsolete male infertility due to gonadal dysgenesis or sperm disorder MONDO:0018404 Orphanet:399764 Orphanet:399980 obsolete rare genetic male infertility -MONDO:0018389 obsolete male infertility due to gonadal dysgenesis or sperm disorder MONDO:0020025 Orphanet:399764 Orphanet:98048 obsolete rare male infertility -MONDO:0018390 obsolete male infertility due to sperm disorder MONDO:0018389 Orphanet:399771 Orphanet:399764 obsolete male infertility due to gonadal dysgenesis or sperm disorder -MONDO:0018391 obsolete male infertility with spermatogenesis disorder MONDO:0018390 Orphanet:399775 Orphanet:399771 obsolete male infertility due to sperm disorder -MONDO:0018392 obsolete male infertility with spermatogenesis disorder due to single gene mutation MONDO:0018391 Orphanet:399786 Orphanet:399775 obsolete male infertility with spermatogenesis disorder MONDO:0018393 obsolete male infertility with azoospermia or oligozoospermia due to single gene mutation MONDO:0000001 Orphanet:399805 Orphanet:377788 disease -MONDO:0018393 obsolete male infertility with azoospermia or oligozoospermia due to single gene mutation MONDO:0018392 Orphanet:399805 Orphanet:399786 obsolete male infertility with spermatogenesis disorder due to single gene mutation -MONDO:0018394 male infertility with teratozoospermia due to single gene mutation MONDO:0018392 Orphanet:399808 Orphanet:399786 obsolete male infertility with spermatogenesis disorder due to single gene mutation -MONDO:0018395 obsolete male infertility due to sperm motility disorder MONDO:0018390 Orphanet:399813 Orphanet:399771 obsolete male infertility due to sperm disorder -MONDO:0018396 obsolete rare male fertility disorder with obstructive azoospermia MONDO:0020091 Orphanet:399824 Orphanet:98343 obsolete male infertility due to obstructive azoospermia -MONDO:0018397 obsolete female infertility due to hypothalamic-pituitary-gonadal axis disorder MONDO:0020026 Orphanet:399831 Orphanet:98049 obsolete rare female infertility -MONDO:0018398 obsolete female infertility due to a congenital hypogonadotropic hypogonadism MONDO:0018397 Orphanet:399839 Orphanet:399831 obsolete female infertility due to hypothalamic-pituitary-gonadal axis disorder -MONDO:0018398 obsolete female infertility due to a congenital hypogonadotropic hypogonadism MONDO:0018411 Orphanet:399839 Orphanet:400011 obsolete rare female infertility due to hypothalamic-pituitary-gonadal axis disorder of genetic origin -MONDO:0018400 obsolete rare female infertility due to an adrenal disorder MONDO:0018397 Orphanet:399849 Orphanet:399831 obsolete female infertility due to hypothalamic-pituitary-gonadal axis disorder -MONDO:0018401 obsolete female infertility due to an anomaly of ovarian function MONDO:0018397 Orphanet:399853 Orphanet:399831 obsolete female infertility due to hypothalamic-pituitary-gonadal axis disorder -MONDO:0018402 obsolete female infertility due to gonadal dysgenesis MONDO:0018410 Orphanet:399877 Orphanet:400008 obsolete rare genetic female infertility -MONDO:0018402 obsolete female infertility due to gonadal dysgenesis MONDO:0020026 Orphanet:399877 Orphanet:98049 obsolete rare female infertility -MONDO:0018403 obsolete female infertility due to an implantation defect MONDO:0020026 Orphanet:399882 Orphanet:98049 obsolete rare female infertility -MONDO:0018404 obsolete rare genetic male infertility MONDO:0017143 Orphanet:399980 Orphanet:275742 obsolete genetic infertility -MONDO:0018405 obsolete rare male infertility due to hypothalamic-pituitary-gonadal axis disorder of genetic origin MONDO:0018404 Orphanet:399983 Orphanet:399980 obsolete rare genetic male infertility -MONDO:0018406 obsolete rare male infertility due to adrenal disorder of genetic origin MONDO:0018405 Orphanet:399994 Orphanet:399983 obsolete rare male infertility due to hypothalamic-pituitary-gonadal axis disorder of genetic origin -MONDO:0018407 obsolete male infertility due to obstructive azoospermia of genetic origin MONDO:0018404 Orphanet:399998 Orphanet:399980 obsolete rare genetic male infertility -MONDO:0018408 cystic echinococcosis MONDO:0015577 Orphanet:400 Orphanet:163588 obsolete rare parasitic disease -MONDO:0018409 obsolete rare genetic disorder with obstructive azoospermia MONDO:0018407 Orphanet:400003 Orphanet:399998 obsolete male infertility due to obstructive azoospermia of genetic origin -MONDO:0018410 obsolete rare genetic female infertility MONDO:0017143 Orphanet:400008 Orphanet:275742 obsolete genetic infertility -MONDO:0018411 obsolete rare female infertility due to hypothalamic-pituitary-gonadal axis disorder of genetic origin MONDO:0018410 Orphanet:400011 Orphanet:400008 obsolete rare genetic female infertility -MONDO:0018412 obsolete rare female infertility due to adrenal disorder of genetic origin MONDO:0018411 Orphanet:400018 Orphanet:400011 obsolete rare female infertility due to hypothalamic-pituitary-gonadal axis disorder of genetic origin -MONDO:0018413 obsolete female infertility due to an anomaly of ovarian function of genetic origin MONDO:0018411 Orphanet:400022 Orphanet:400011 obsolete rare female infertility due to hypothalamic-pituitary-gonadal axis disorder of genetic origin -MONDO:0018414 obsolete female infertility due to an implantation defect of genetic origin MONDO:0018410 Orphanet:400025 Orphanet:400008 obsolete rare genetic female infertility -MONDO:0018416 autosomal recessive spastic paraplegia type 59 MONDO:0015089 Orphanet:401795 Orphanet:100981 obsolete autosomal recessive complex spastic paraplegia -MONDO:0018417 autosomal recessive spastic paraplegia type 60 MONDO:0015089 Orphanet:401800 Orphanet:100981 obsolete autosomal recessive complex spastic paraplegia -MONDO:0018418 autosomal recessive spastic paraplegia type 66 MONDO:0015089 Orphanet:401815 Orphanet:100981 obsolete autosomal recessive complex spastic paraplegia -MONDO:0018419 autosomal recessive spastic paraplegia type 67 MONDO:0015089 Orphanet:401820 Orphanet:100981 obsolete autosomal recessive complex spastic paraplegia -MONDO:0018421 autosomal recessive spastic paraplegia type 69 MONDO:0015089 Orphanet:401830 Orphanet:100981 obsolete autosomal recessive complex spastic paraplegia -MONDO:0018422 autosomal recessive spastic paraplegia type 70 MONDO:0015089 Orphanet:401835 Orphanet:100981 obsolete autosomal recessive complex spastic paraplegia -MONDO:0018423 autosomal recessive spastic paraplegia type 71 MONDO:0015090 Orphanet:401840 Orphanet:100982 obsolete autosomal recessive pure spastic paraplegia -MONDO:0018425 Huntington disease-like syndrome due to C9ORF72 expansions MONDO:0017646 Orphanet:401901 Orphanet:306719 obsolete neurodegenerative disease with chorea -MONDO:0018425 Huntington disease-like syndrome due to C9ORF72 expansions MONDO:0020136 Orphanet:401901 Orphanet:98534 obsolete neurodegenerative disease with dementia -MONDO:0018425 Huntington disease-like syndrome due to C9ORF72 expansions MONDO:0021037 Orphanet:401901 Orphanet:276058 obsolete genetic neurodegenerative disease with dementia -MONDO:0018426 AXIN2-related attenuated familial adenomatous polyposis MONDO:8000031 Orphanet:401911 Orphanet:557494 obsolete subtype of a disorder -MONDO:0018428 9q31.1q31.3 microdeletion syndrome MONDO:0035863 Orphanet:401923 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0018428 9q31.1q31.3 microdeletion syndrome MONDO:8000032 Orphanet:401923 Orphanet:377789 obsolete malformation syndrome -MONDO:0018429 14q24.1q24.3 microdeletion syndrome MONDO:0035863 Orphanet:401935 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0018429 14q24.1q24.3 microdeletion syndrome MONDO:8000032 Orphanet:401935 Orphanet:377789 obsolete malformation syndrome -MONDO:0018430 partial corpus callosum agenesis-cerebellar vermis hypoplasia with posterior fossa cysts syndrome MONDO:0015655 Orphanet:401959 Orphanet:166478 obsolete cerebral malformation with epilepsy -MONDO:0018430 partial corpus callosum agenesis-cerebellar vermis hypoplasia with posterior fossa cysts syndrome MONDO:0017118 Orphanet:401959 Orphanet:269523 obsolete syndrome with a cerebellar malformation as major feature -MONDO:0018430 partial corpus callosum agenesis-cerebellar vermis hypoplasia with posterior fossa cysts syndrome MONDO:8000032 Orphanet:401959 Orphanet:377789 obsolete malformation syndrome -MONDO:0018431 cold-induced sweating syndrome - hyperthermia spectrum MONDO:0015366 Orphanet:401993 Orphanet:140477 obsolete autosomal recessive hereditary sensory and autonomic neuropathy -MONDO:0018433 acute myeloid leukemia with t(6;9)(p23;q34) MONDO:0020078 Orphanet:402014 Orphanet:98277 obsolete acute myeloid leukemia with recurrent genetic anomaly -MONDO:0018434 acute myeloid leukemia with t(9;11)(p22;q23) MONDO:0020078 Orphanet:402017 Orphanet:98277 obsolete acute myeloid leukemia with recurrent genetic anomaly -MONDO:0018435 acute myeloid leukemia with inv3(p21;q26.2) or t(3;3)(p21;q26.2) MONDO:0020078 Orphanet:402020 Orphanet:98277 obsolete acute myeloid leukemia with recurrent genetic anomaly -MONDO:0018436 megakaryoblastic acute myeloid leukemia with t(1;22)(p13;q13) MONDO:0020078 Orphanet:402023 Orphanet:98277 obsolete acute myeloid leukemia with recurrent genetic anomaly -MONDO:0018437 acute myeloid leukemia with NPM1 somatic mutations MONDO:0020078 Orphanet:402026 Orphanet:98277 obsolete acute myeloid leukemia with recurrent genetic anomaly -MONDO:0018438 eosinophilic gastrointestinal disease MONDO:0019997 Orphanet:402029 Orphanet:97935 obsolete rare gastroenterologic disease -MONDO:0018440 autosomal recessive distal renal tubular acidosis MONDO:0019589 Orphanet:402041 Orphanet:90642 obsolete syndromic genetic hearing loss -MONDO:0018440 autosomal recessive distal renal tubular acidosis MONDO:8000031 Orphanet:402041 Orphanet:557494 obsolete subtype of a disorder -MONDO:0018442 acitretin/etretinate embryopathy MONDO:8000032 Orphanet:40366 Orphanet:377789 obsolete malformation syndrome -MONDO:0018443 FBLN1-related developmental delay-central nervous system anomaly-syndactyly syndrome MONDO:0035863 Orphanet:404451 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0018443 FBLN1-related developmental delay-central nervous system anomaly-syndactyly syndrome MONDO:8000032 Orphanet:404451 Orphanet:377789 obsolete malformation syndrome -MONDO:0018444 obsolete female infertility due to fertilization defect MONDO:0018410 Orphanet:404469 Orphanet:400008 obsolete rare genetic female infertility -MONDO:0018444 obsolete female infertility due to fertilization defect MONDO:0020026 Orphanet:404469 Orphanet:98049 obsolete rare female infertility -MONDO:0018445 global developmental delay - lung cysts - overgrowth - Wilms tumor syndrome MONDO:0017891 Orphanet:404476 Orphanet:319328 obsolete inherited renal cancer-predisposing syndrome -MONDO:0018445 global developmental delay - lung cysts - overgrowth - Wilms tumor syndrome MONDO:8000032 Orphanet:404476 Orphanet:377789 obsolete malformation syndrome -MONDO:0018446 autosomal recessive cerebellar ataxia - epilepsy - intellectual disability syndrome MONDO:0035862 Orphanet:404481 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome -MONDO:0018448 clear cell papillary renal cell carcinoma MONDO:8000031 Orphanet:404511 Orphanet:557494 obsolete subtype of a disorder -MONDO:0018450 spinal muscular atrophy with respiratory distress type 2 MONDO:0018451 Orphanet:404521 Orphanet:404538 obsolete X-linked distal hereditary motor neuropathy -MONDO:0018451 obsolete X-linked distal hereditary motor neuropathy MONDO:0018894 Orphanet:404538 Orphanet:53739 distal hereditary motor neuropathy -MONDO:0018453 familial atypical multiple mole melanoma syndrome MONDO:0015950 Orphanet:404560 Orphanet:183487 obsolete inherited skin tumor -MONDO:0018453 familial atypical multiple mole melanoma syndrome MONDO:0019300 Orphanet:404560 Orphanet:79386 obsolete rare skin tumor or hamartoma -MONDO:0018454 obsolete dysostosis of genetic origin MONDO:0015958 Orphanet:404568 Orphanet:183524 obsolete rare genetic bone disease -MONDO:0018454 obsolete dysostosis of genetic origin MONDO:0018457 Orphanet:404568 Orphanet:404584 obsolete rare genetic bone development disorder -MONDO:0018455 obsolete dysostosis of genetic origin with limb anomaly as a major feature MONDO:0018454 Orphanet:404571 Orphanet:404568 obsolete dysostosis of genetic origin -MONDO:0018457 obsolete rare genetic bone development disorder MONDO:0015960 Orphanet:404584 Orphanet:183530 obsolete rare genetic developmental defect during embryogenesis -MONDO:0018458 familial hypocalciuric hypercalcemia MONDO:0015970 Orphanet:405 Orphanet:183634 obsolete rare genetic parathyroid disease and phosphocalcic metabolism disorder -MONDO:0018458 familial hypocalciuric hypercalcemia MONDO:0017024 Orphanet:405 Orphanet:264719 obsolete secondary interstitial lung disease specific to childhood associated with a metabolic disease -MONDO:0018458 familial hypocalciuric hypercalcemia MONDO:0019061 Orphanet:405 Orphanet:68415 obsolete rare parathyroid disease and phosphocalcic metabolism anomaly -MONDO:0018458 familial hypocalciuric hypercalcemia MONDO:0019705 Orphanet:405 Orphanet:93447 obsolete primary bone dysplasia with defective bone mineralization -MONDO:0018461 Angelman syndrome due to a point mutation MONDO:8000031 Orphanet:411511 Orphanet:557494 obsolete subtype of a disorder -MONDO:0018462 Angelman syndrome due to imprinting defect in 15q11-q13 MONDO:8000031 Orphanet:411515 Orphanet:557494 obsolete subtype of a disorder -MONDO:0018463 mild phosphoribosylpyrophosphate synthetase superactivity MONDO:8000031 Orphanet:411536 Orphanet:557494 obsolete subtype of a disorder -MONDO:0018464 severe phosphoribosylpyrophosphate synthetase superactivity MONDO:8000031 Orphanet:411543 Orphanet:557494 obsolete subtype of a disorder -MONDO:0018467 nephropathic infantile cystinosis MONDO:0019743 Orphanet:411629 Orphanet:93593 obsolete nephropathy secondary to a storage or other metabolic disease -MONDO:0018467 nephropathic infantile cystinosis MONDO:8000031 Orphanet:411629 Orphanet:557494 obsolete subtype of a disorder -MONDO:0018469 pulmonary non-tuberculous mycobacterial infection MONDO:0015118 Orphanet:411703 Orphanet:101944 obsolete rare pulmonary disease -MONDO:0018469 pulmonary non-tuberculous mycobacterial infection MONDO:0015575 Orphanet:411703 Orphanet:163582 obsolete rare bacterial infectious disease -MONDO:0018470 renal agenesis MONDO:0019720 Orphanet:411709 Orphanet:93546 obsolete non-syndromic renal or urinary tract malformation -MONDO:0018470 renal agenesis MONDO:8000030 Orphanet:411709 Orphanet:377791 obsolete morphological anomaly -MONDO:0018471 generalized eruptive keratoacanthoma MONDO:0019300 Orphanet:411777 Orphanet:79386 obsolete rare skin tumor or hamartoma -MONDO:0018472 familial isolated trichomegaly MONDO:0021027 Orphanet:411788 Orphanet:183450 obsolete genetic hair anomaly -MONDO:0018473 hyperlipoproteinemia type 3 MONDO:0015901 Orphanet:412 Orphanet:181422 obsolete rare inherited hyperlipidemia -MONDO:0018474 13q12.3 microdeletion syndrome MONDO:0019274 Orphanet:412035 Orphanet:79359 obsolete other epidermal disorder -MONDO:0018474 13q12.3 microdeletion syndrome MONDO:0035863 Orphanet:412035 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0018474 13q12.3 microdeletion syndrome MONDO:8000032 Orphanet:412035 Orphanet:377789 obsolete malformation syndrome -MONDO:0018475 PRKAR1B-related neurodegenerative dementia with intermediate filaments MONDO:0020136 Orphanet:412066 Orphanet:98534 obsolete neurodegenerative disease with dementia -MONDO:0018475 PRKAR1B-related neurodegenerative dementia with intermediate filaments MONDO:0021037 Orphanet:412066 Orphanet:276058 obsolete genetic neurodegenerative disease with dementia -MONDO:0018476 dystonia-aphonia syndrome MONDO:0018329 Orphanet:412217 Orphanet:391711 obsolete persistent combined dystonia -MONDO:0018477 bilirubin encephalopathy MONDO:0019058 Orphanet:415286 Orphanet:68385 obsolete neurometabolic disease -MONDO:0018479 congenital adrenal hyperplasia MONDO:0019590 Orphanet:418 Orphanet:90692 obsolete rare endocrine growth disease -MONDO:0018479 congenital adrenal hyperplasia MONDO:0020999 Orphanet:418 Orphanet:101960 obsolete genetic chronic primary adrenal insufficiency -MONDO:0018483 secondary pulmonary alveolar proteinosis MONDO:0017034 Orphanet:420259 Orphanet:264944 obsolete secondary interstitial lung disease in childhood and adulthood -MONDO:0018484 semicircular canal dehiscence syndrome MONDO:0020017 Orphanet:420402 Orphanet:98036 obsolete rare otorhinolaryngologic disease -MONDO:0018484 semicircular canal dehiscence syndrome MONDO:0032013 Orphanet:420402 Orphanet:377792 obsolete clinical syndrome -MONDO:0018485 glycogen storage disease due to acid maltase deficiency, late-onset MONDO:8000031 Orphanet:420429 Orphanet:557494 obsolete subtype of a disorder -MONDO:0018486 visual snow syndrome MONDO:0034962 Orphanet:420556 Orphanet:519343 obsolete rare ophthalmic disorder with cortical involvement -MONDO:0018488 obsolete rare genetic odontal or periodontal disorder MONDO:0019183 Orphanet:420755 Orphanet:77830 obsolete inherited odontologic disease -MONDO:0018489 autoimmune encephalopathy with parasomnia and obstructive sleep apnea MONDO:0019045 Orphanet:420789 Orphanet:68354 obsolete rare sleep disorder -MONDO:0018489 autoimmune encephalopathy with parasomnia and obstructive sleep apnea MONDO:0020016 Orphanet:420789 Orphanet:98033 obsolete rare neurologic disease with psychiatric involvement -MONDO:0018490 cono-spondylar dysplasia MONDO:0015329 Orphanet:420794 Orphanet:139021 obsolete malformation syndrome with short stature -MONDO:0018490 cono-spondylar dysplasia MONDO:0026187 Orphanet:420794 Orphanet:183570 obsolete genetic malformation syndrome with short stature -MONDO:0018490 cono-spondylar dysplasia MONDO:0035863 Orphanet:420794 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0018490 cono-spondylar dysplasia MONDO:8000032 Orphanet:420794 Orphanet:377789 obsolete malformation syndrome -MONDO:0018492 hereditary clear cell renal cell carcinoma MONDO:0017891 Orphanet:422526 Orphanet:319328 obsolete inherited renal cancer-predisposing syndrome -MONDO:0018493 malignant hyperthermia of anesthesia MONDO:0018753 Orphanet:423 Orphanet:466658 obsolete rare disease with malignant hyperthermia -MONDO:0018494 microcephaly-short stature-intellectual disability-facial dysmorphism syndrome MONDO:0015329 Orphanet:423306 Orphanet:139021 obsolete malformation syndrome with short stature -MONDO:0018494 microcephaly-short stature-intellectual disability-facial dysmorphism syndrome MONDO:0026187 Orphanet:423306 Orphanet:183570 obsolete genetic malformation syndrome with short stature -MONDO:0018494 microcephaly-short stature-intellectual disability-facial dysmorphism syndrome MONDO:0035863 Orphanet:423306 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0018494 microcephaly-short stature-intellectual disability-facial dysmorphism syndrome MONDO:8000032 Orphanet:423306 Orphanet:377789 obsolete malformation syndrome -MONDO:0018495 X-linked intellectual disability-limb spasticity-retinal dystrophy-diabetes insipidus syndrome MONDO:0019058 Orphanet:423479 Orphanet:68385 obsolete neurometabolic disease -MONDO:0018495 X-linked intellectual disability-limb spasticity-retinal dystrophy-diabetes insipidus syndrome MONDO:0034953 Orphanet:423479 Orphanet:519325 obsolete syndromic inherited retinal disorder -MONDO:0018495 X-linked intellectual disability-limb spasticity-retinal dystrophy-diabetes insipidus syndrome MONDO:0035862 Orphanet:423479 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome -MONDO:0018496 obsolete ARX-related encephalopathy-brain malformation spectrum MONDO:0015159 Orphanet:423655 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0018496 obsolete ARX-related encephalopathy-brain malformation spectrum MONDO:0015620 Orphanet:423655 Orphanet:165707 obsolete syndromic urogenital tract malformation -MONDO:0018496 obsolete ARX-related encephalopathy-brain malformation spectrum MONDO:0015921 Orphanet:423655 Orphanet:182079 obsolete ARX-related epileptic encephalopathy -MONDO:0018496 obsolete ARX-related encephalopathy-brain malformation spectrum MONDO:0016055 Orphanet:423655 Orphanet:199639 obsolete syndrome with corpus callosum agenesis /dysgenesis as a major feature -MONDO:0018496 obsolete ARX-related encephalopathy-brain malformation spectrum MONDO:0017122 Orphanet:423655 Orphanet:269573 obsolete genetic syndrome with corpus callosum agenesis/dysgenesis as a major feature -MONDO:0018496 obsolete ARX-related encephalopathy-brain malformation spectrum MONDO:0035863 Orphanet:423655 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0018497 obsolete rare autonomic nervous system disorder MONDO:0020009 Orphanet:423662 Orphanet:98006 obsolete rare neurologic disease -MONDO:0018498 double outlet right ventricle with subaortic or doubly committed ventricular septal defect MONDO:8000031 Orphanet:423693 Orphanet:557494 obsolete subtype of a disorder -MONDO:0018499 double outlet right ventricle with atrioventricular septal defect, pulmonary stenosis, heterotaxy MONDO:8000031 Orphanet:423712 Orphanet:557494 obsolete subtype of a disorder -MONDO:0018500 cutaneous larva migrans MONDO:0015577 Orphanet:423717 Orphanet:163588 obsolete rare parasitic disease -MONDO:0018501 obsolete rare carcinoma of stomach MONDO:0018972 Orphanet:423771 Orphanet:63443 obsolete rare epithelial tumor of stomach -MONDO:0018502 hereditary gastric cancer MONDO:0018501 Orphanet:423776 Orphanet:423771 obsolete rare carcinoma of stomach -MONDO:0018504 undifferentiated carcinoma of stomach MONDO:0018501 Orphanet:423786 Orphanet:423771 obsolete rare carcinoma of stomach -MONDO:0018505 obsolete rare tumor of small intestine MONDO:0015186 Orphanet:423793 Orphanet:104011 obsolete rare tumor of intestine -MONDO:0018506 mesenchymal tumor of small intestine MONDO:0018505 Orphanet:423798 Orphanet:423793 obsolete rare tumor of small intestine -MONDO:0018507 microcephaly-complex motor and sensory axonal neuropathy syndrome MONDO:0019601 Orphanet:423894 Orphanet:91024 obsolete autosomal recessive axonal hereditary motor and sensory neuropathy -MONDO:0018508 obsolete rare carcinoma of small intestine MONDO:0018539 Orphanet:423957 Orphanet:425368 obsolete rare epithelial tumor of small intestine -MONDO:0018509 squamous cell carcinoma of the small intestine MONDO:0018508 Orphanet:423968 Orphanet:423957 obsolete rare carcinoma of small intestine -MONDO:0018510 small intestine neuroendocrine neoplasm MONDO:0018539 Orphanet:423975 Orphanet:425368 obsolete rare epithelial tumor of small intestine -MONDO:0018510 small intestine neuroendocrine neoplasm MONDO:0028618 Orphanet:423975 Orphanet:481508 obsolete gastroenteric neuroendocrine neoplasm -MONDO:0018511 epithelial tumor of the appendix MONDO:0015186 Orphanet:423982 Orphanet:104011 obsolete rare tumor of intestine -MONDO:0018512 obsolete rare epithelial tumor of colon MONDO:0015186 Orphanet:423991 Orphanet:104011 obsolete rare tumor of intestine -MONDO:0018513 squamous cell carcinoma of colon MONDO:0018512 Orphanet:423994 Orphanet:423991 obsolete rare epithelial tumor of colon -MONDO:0018514 obsolete rare epithelial tumor of rectum MONDO:0015186 Orphanet:423998 Orphanet:104011 obsolete rare tumor of intestine -MONDO:0018515 squamous cell carcinoma of rectum MONDO:0018514 Orphanet:424002 Orphanet:423998 obsolete rare epithelial tumor of rectum -MONDO:0018516 epithelial tumor of anal canal MONDO:0015186 Orphanet:424010 Orphanet:104011 obsolete rare tumor of intestine -MONDO:0018520 obsolete rare epithelial tumor of pancreas MONDO:0015882 Orphanet:424033 Orphanet:180824 obsolete rare tumor of pancreas -MONDO:0018521 squamous cell carcinoma of pancreas MONDO:0016314 Orphanet:424039 Orphanet:217074 obsolete rare carcinoma of pancreas -MONDO:0018523 pancreatic mucinous cystadenoma MONDO:0016314 Orphanet:424053 Orphanet:217074 obsolete rare carcinoma of pancreas -MONDO:0018525 solid pseudopapillary carcinoma of pancreas MONDO:0016314 Orphanet:424065 Orphanet:217074 obsolete rare carcinoma of pancreas -MONDO:0018529 obsolete qualitative or quantitative defects of Torsin-1A-interacting protein 1 MONDO:0016139 Orphanet:424925 Orphanet:207049 qualitative or quantitative protein defects in neuromuscular diseases -MONDO:0018530 obsolete rare epithelial tumor of liver and intrahepatic biliary tract MONDO:0017632 Orphanet:424933 Orphanet:306636 obsolete rare tumor of liver and intrahepatic biliary tract -MONDO:0018531 carcinoma of liver and intrahepatic biliary tract MONDO:0018530 Orphanet:424936 Orphanet:424933 obsolete rare epithelial tumor of liver and intrahepatic biliary tract MONDO:0018532 obsolete adenocarcinoma of liver and intrahepatic biliary tract MONDO:0000001 Orphanet:424943 Orphanet:377788 disease -MONDO:0018532 obsolete adenocarcinoma of liver and intrahepatic biliary tract MONDO:0018531 Orphanet:424943 Orphanet:424936 carcinoma of liver and intrahepatic biliary tract -MONDO:0018538 obsolete inherited digestive cancer-predisposing syndrome MONDO:0015356 Orphanet:425003 Orphanet:140162 hereditary neoplastic syndrome -MONDO:0018538 obsolete inherited digestive cancer-predisposing syndrome MONDO:0019997 Orphanet:425003 Orphanet:97935 obsolete rare gastroenterologic disease -MONDO:0018539 obsolete rare epithelial tumor of small intestine MONDO:0018505 Orphanet:425368 Orphanet:423793 obsolete rare tumor of small intestine -MONDO:0018541 familial hypoaldosteronism MONDO:0015971 Orphanet:427 Orphanet:183637 obsolete rare genetic adrenal disease -MONDO:0018543 autosomal dominant hypocalcemia MONDO:8000031 Orphanet:428 Orphanet:557494 obsolete subtype of a disorder -MONDO:0018544 adrenoleukodystrophy MONDO:0015906 Orphanet:43 Orphanet:181441 obsolete rare disorder with hypergonadotropic hypogonadism -MONDO:0018544 adrenoleukodystrophy MONDO:0015918 Orphanet:43 Orphanet:182070 obsolete rare neurodegenerative disease -MONDO:0018544 adrenoleukodystrophy MONDO:0016398 Orphanet:43 Orphanet:225686 obsolete peroxisomal disease with epilepsy -MONDO:0018544 adrenoleukodystrophy MONDO:0019058 Orphanet:43 Orphanet:68385 obsolete neurometabolic disease -MONDO:0018544 adrenoleukodystrophy MONDO:0020142 Orphanet:43 Orphanet:98543 obsolete metabolic disease with dementia -MONDO:0018544 adrenoleukodystrophy MONDO:0020999 Orphanet:43 Orphanet:101960 obsolete genetic chronic primary adrenal insufficiency -MONDO:0018545 obsolete primary immunodeficiency with predisposition to severe viral infection MONDO:0015135 Orphanet:431156 Orphanet:101988 obsolete primary immunodeficiency due to a genetic defect in innate immunity -MONDO:0018546 serotonin syndrome MONDO:0018753 Orphanet:43116 Orphanet:466658 obsolete rare disease with malignant hyperthermia -MONDO:0018547 acute tricyclic antidepressant poisoning MONDO:0017633 Orphanet:43117 Orphanet:306640 obsolete rare intoxication due to medical products -MONDO:0018547 acute tricyclic antidepressant poisoning MONDO:0032014 Orphanet:43117 Orphanet:377793 obsolete particular clinical situation in a disease or syndrome -MONDO:0018548 acute poisoning by drugs with membrane-stabilizing effect MONDO:0017633 Orphanet:43119 Orphanet:306640 obsolete rare intoxication due to medical products -MONDO:0018548 acute poisoning by drugs with membrane-stabilizing effect MONDO:0032014 Orphanet:43119 Orphanet:377793 obsolete particular clinical situation in a disease or syndrome -MONDO:0018549 obsolete late-onset scapuloperoneal muscular dystrophy with hyaline bodies MONDO:0016106 Orphanet:431263 Orphanet:206644 progressive muscular dystrophy -MONDO:0018550 obsolete spastic paraplegia-optic atrophy-neuropathy and spastic paraplegia-optic atrophy-neuropathy-related disorder MONDO:0015089 Orphanet:431320 Orphanet:100981 obsolete autosomal recessive complex spastic paraplegia -MONDO:0018550 obsolete spastic paraplegia-optic atrophy-neuropathy and spastic paraplegia-optic atrophy-neuropathy-related disorder MONDO:0015626 Orphanet:431320 Orphanet:166 Charcot-Marie-Tooth disease -MONDO:0018550 obsolete spastic paraplegia-optic atrophy-neuropathy and spastic paraplegia-optic atrophy-neuropathy-related disorder MONDO:0018609 Orphanet:431320 Orphanet:441434 obsolete syndromic hereditary optic neuropathy -MONDO:0018551 patent urachus MONDO:8000030 Orphanet:431341 Orphanet:377791 obsolete morphological anomaly -MONDO:0018552 urachal sinus MONDO:8000030 Orphanet:431344 Orphanet:377791 obsolete morphological anomaly -MONDO:0018553 urachal diverticulum MONDO:8000030 Orphanet:431347 Orphanet:377791 obsolete morphological anomaly -MONDO:0018554 pulmonary veno-occlusive disease and/or pulmonary capillary haemangiomatosis MONDO:0015510 Orphanet:431353 Orphanet:156610 obsolete rare genetic respiratory disease -MONDO:0018554 pulmonary veno-occlusive disease and/or pulmonary capillary haemangiomatosis MONDO:0019096 Orphanet:431353 Orphanet:71198 obsolete rare pulmonary hypertension -MONDO:0018555 hypogonadotropic hypogonadism MONDO:8000031 Orphanet:432 Orphanet:557494 obsolete subtype of a disorder -MONDO:0018556 Lambert-Eaton myasthenic syndrome MONDO:0018743 Orphanet:43393 Orphanet:464764 obsolete immune-mediated acquired neuromuscular junction disease -MONDO:0018556 Lambert-Eaton myasthenic syndrome MONDO:0038268 Orphanet:43393 Orphanet:98750 obsolete autoimmune neurological channelopathy -MONDO:0018557 obsolete rare genetic autonomic nervous system disorder MONDO:0019117 Orphanet:434786 Orphanet:71859 obsolete genetic nervous system disorder -MONDO:0018558 obsolete syndrome with wooly hair MONDO:0019282 Orphanet:434809 Orphanet:79367 obsolete syndromic hair shaft abnormality -MONDO:0018559 fetal lower urinary tract obstruction MONDO:0015934 Orphanet:435365 Orphanet:182124 obsolete non-syndromic urogenital tract malformation of male and female -MONDO:0018559 fetal lower urinary tract obstruction MONDO:0019720 Orphanet:435365 Orphanet:93546 obsolete non-syndromic renal or urinary tract malformation -MONDO:0018560 obsolete anterior urethral valve MONDO:0018559 Orphanet:435372 Orphanet:435365 fetal lower urinary tract obstruction -MONDO:0018560 obsolete anterior urethral valve MONDO:8000030 Orphanet:435372 Orphanet:377791 obsolete morphological anomaly -MONDO:0018561 precocious puberty in female MONDO:0015860 Orphanet:435561 Orphanet:180208 obsolete anomaly of puberty or/and menstrual cycle -MONDO:0018562 obsolete hereditary otorhinolaryngological malformation MONDO:0015961 Orphanet:435603 Orphanet:183583 obsolete hereditary head and neck malformation -MONDO:0018562 obsolete hereditary otorhinolaryngological malformation MONDO:0018751 Orphanet:435603 Orphanet:466084 hereditary otorhinolaryngologic disease -MONDO:0018564 3p25.3 microdeletion syndrome MONDO:0035862 Orphanet:435638 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome -MONDO:0018564 3p25.3 microdeletion syndrome MONDO:8000032 Orphanet:435638 Orphanet:377789 obsolete malformation syndrome -MONDO:0018565 congenital urachal anomaly MONDO:0015934 Orphanet:435743 Orphanet:182124 obsolete non-syndromic urogenital tract malformation of male and female -MONDO:0018565 congenital urachal anomaly MONDO:0019720 Orphanet:435743 Orphanet:93546 obsolete non-syndromic renal or urinary tract malformation -MONDO:0018566 short stature-advanced bone age-early-onset osteoarthritis syndrome MONDO:0018239 Orphanet:435804 Orphanet:364817 obsolete aggrecan-related bone disorder -MONDO:0018569 X-linked microcephaly-growth retardation-prognathism-cryptorchidism syndrome MONDO:0035863 Orphanet:435938 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0018569 X-linked microcephaly-growth retardation-prognathism-cryptorchidism syndrome MONDO:8000032 Orphanet:435938 Orphanet:377789 obsolete malformation syndrome -MONDO:0018570 hypophosphatasia MONDO:0019705 Orphanet:436 Orphanet:93447 obsolete primary bone dysplasia with defective bone mineralization -MONDO:0018571 contractures-developmental delay-Pierre Robin syndrome MONDO:0024147 Orphanet:436003 Orphanet:138047 obsolete Pierre Robin syndrome associated with a chromosomal anomaly -MONDO:0018571 contractures-developmental delay-Pierre Robin syndrome MONDO:0035863 Orphanet:436003 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0018571 contractures-developmental delay-Pierre Robin syndrome MONDO:8000032 Orphanet:436003 Orphanet:377789 obsolete malformation syndrome -MONDO:0018572 severe intellectual disability-hypotonia-strabismus-coarse face-planovalgus syndrome MONDO:0020253 Orphanet:436141 Orphanet:98683 obsolete syndrome with a symptomatic strabismus -MONDO:0018572 severe intellectual disability-hypotonia-strabismus-coarse face-planovalgus syndrome MONDO:0035863 Orphanet:436141 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0018572 severe intellectual disability-hypotonia-strabismus-coarse face-planovalgus syndrome MONDO:8000032 Orphanet:436141 Orphanet:377789 obsolete malformation syndrome -MONDO:0018573 intrauterine growth restriction-short stature-early adult-onset diabetes syndrome MONDO:0015885 Orphanet:436144 Orphanet:181368 obsolete rare insulin-resistance syndrome MONDO:0018574 obsolete intellectual disability-expressive aphasia-facial dysmorphism syndrome MONDO:0000001 Orphanet:436151 Orphanet:377788 disease -MONDO:0018574 obsolete intellectual disability-expressive aphasia-facial dysmorphism syndrome MONDO:0015159 Orphanet:436151 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0018574 obsolete intellectual disability-expressive aphasia-facial dysmorphism syndrome MONDO:0035863 Orphanet:436151 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0018575 obsolete microcephalic primordial dwarfism-insulin resistance syndrome MONDO:0015885 Orphanet:436182 Orphanet:181368 obsolete rare insulin-resistance syndrome -MONDO:0018575 obsolete microcephalic primordial dwarfism-insulin resistance syndrome MONDO:0019852 Orphanet:436182 Orphanet:95710 inherited primary ovarian failure -MONDO:0018575 obsolete microcephalic primordial dwarfism-insulin resistance syndrome MONDO:0034443 Orphanet:436182 Orphanet:485382 obsolete genetic non-acquired premature ovarian failure -MONDO:0018575 obsolete microcephalic primordial dwarfism-insulin resistance syndrome MONDO:8000032 Orphanet:436182 Orphanet:377789 obsolete malformation syndrome -MONDO:0018576 non-progressive predominantly posterior cavitating leukoencephalopathy with peripheral neuropathy MONDO:0016133 Orphanet:436271 Orphanet:207018 obsolete rare hereditary metabolic disease with peripheral neuropathy -MONDO:0018576 non-progressive predominantly posterior cavitating leukoencephalopathy with peripheral neuropathy MONDO:0016799 Orphanet:436271 Orphanet:254822 obsolete mitochondrial oxidative phosphorylation disorder with no known mechanism -MONDO:0018576 non-progressive predominantly posterior cavitating leukoencephalopathy with peripheral neuropathy MONDO:0019058 Orphanet:436271 Orphanet:68385 obsolete neurometabolic disease -MONDO:0018577 pseudoxanthoma elasticum-like skin manifestations with retinitis pigmentosa MONDO:0020240 Orphanet:436274 Orphanet:98661 obsolete syndromic retinitis pigmentosa -MONDO:0018579 obsolete disorder of ketone body transport MONDO:0019223 Orphanet:438072 Orphanet:79174 disorder of fatty acid and ketone body metabolism MONDO:0018580 obsolete PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome MONDO:0000001 Orphanet:438213 Orphanet:377788 disease -MONDO:0018580 obsolete PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome MONDO:0015159 Orphanet:438213 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0018580 obsolete PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome MONDO:0035863 Orphanet:438213 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0018581 progressive encephalomyelitis with rigidity and myoclonus MONDO:8000031 Orphanet:438266 Orphanet:557494 obsolete subtype of a disorder -MONDO:0018582 GCGR-related hyperglucagonemia MONDO:0015621 Orphanet:438274 Orphanet:165711 obsolete rare abdominal surgical disease -MONDO:0018582 GCGR-related hyperglucagonemia MONDO:0015882 Orphanet:438274 Orphanet:180824 obsolete rare tumor of pancreas -MONDO:0018583 human infection by orthopoxvirus MONDO:0015576 Orphanet:438279 Orphanet:163585 obsolete rare viral disease -MONDO:0018585 pediatric arterial ischemic stroke MONDO:0019110 Orphanet:439175 Orphanet:71281 obsolete rare central nervous system or retinal vascular disease -MONDO:0018585 pediatric arterial ischemic stroke MONDO:0024471 Orphanet:439175 Orphanet:496924 obsolete non-inflammatory vasculopathy -MONDO:0018585 pediatric arterial ischemic stroke MONDO:0032013 Orphanet:439175 Orphanet:377792 obsolete clinical syndrome -MONDO:0018586 zinc-responsive necrolytic acral erythema MONDO:0019274 Orphanet:439196 Orphanet:79359 obsolete other epidermal disorder -MONDO:0018586 zinc-responsive necrolytic acral erythema MONDO:0032014 Orphanet:439196 Orphanet:377793 obsolete particular clinical situation in a disease or syndrome -MONDO:0018591 ITM2B amyloidosis MONDO:0020136 Orphanet:439254 Orphanet:98534 obsolete neurodegenerative disease with dementia -MONDO:0018591 ITM2B amyloidosis MONDO:0021037 Orphanet:439254 Orphanet:276058 obsolete genetic neurodegenerative disease with dementia -MONDO:0018593 primary polyarteritis nodosa MONDO:8000031 Orphanet:439737 Orphanet:557494 obsolete subtype of a disorder -MONDO:0018594 secondary polyarteritis nodosa MONDO:8000031 Orphanet:439746 Orphanet:557494 obsolete subtype of a disorder -MONDO:0018597 plastic bronchitis MONDO:0015118 Orphanet:439881 Orphanet:101944 obsolete rare pulmonary disease -MONDO:0018597 plastic bronchitis MONDO:0032014 Orphanet:439881 Orphanet:377793 obsolete particular clinical situation in a disease or syndrome MONDO:0018598 obsolete neonatal adrenoleukodystrophy MONDO:0000001 Orphanet:44 Orphanet:377788 disease -MONDO:0018598 obsolete neonatal adrenoleukodystrophy MONDO:0016398 Orphanet:44 Orphanet:225686 obsolete peroxisomal disease with epilepsy -MONDO:0018598 obsolete neonatal adrenoleukodystrophy MONDO:0019234 Orphanet:44 Orphanet:79189 peroxisome biogenesis disorder -MONDO:0018598 obsolete neonatal adrenoleukodystrophy MONDO:0020228 Orphanet:44 Orphanet:98644 obsolete cataract associated with a metabolic disease -MONDO:0018598 obsolete neonatal adrenoleukodystrophy MONDO:0020253 Orphanet:44 Orphanet:98683 obsolete syndrome with a symptomatic strabismus -MONDO:0018598 obsolete neonatal adrenoleukodystrophy MONDO:0020999 Orphanet:44 Orphanet:101960 obsolete genetic chronic primary adrenal insufficiency -MONDO:0018600 congenital abducens nerve palsy MONDO:0034965 Orphanet:440233 Orphanet:519349 obsolete rare ophthalmic disorder with cranial nerve involvement -MONDO:0018601 autosomal dominant myopia-midfacial retrusion-sensorineural hearing loss-rhizomelic dysplasia syndrome MONDO:0019589 Orphanet:440354 Orphanet:90642 obsolete syndromic genetic hearing loss -MONDO:0018601 autosomal dominant myopia-midfacial retrusion-sensorineural hearing loss-rhizomelic dysplasia syndrome MONDO:0019697 Orphanet:440354 Orphanet:93438 obsolete mesomelic and rhizo-mesomelic dysplasia -MONDO:0018601 autosomal dominant myopia-midfacial retrusion-sensorineural hearing loss-rhizomelic dysplasia syndrome MONDO:0800087 Orphanet:440354 Orphanet:93422 obsolete type 11 collagen-related bone disorder -MONDO:0018601 autosomal dominant myopia-midfacial retrusion-sensorineural hearing loss-rhizomelic dysplasia syndrome MONDO:8000032 Orphanet:440354 Orphanet:377789 obsolete malformation syndrome -MONDO:0018602 necrotizing soft tissue infection MONDO:0015575 Orphanet:440368 Orphanet:163582 obsolete rare bacterial infectious disease -MONDO:0018603 interstitial lung disease due to SP-C deficiency MONDO:0017032 Orphanet:440392 Orphanet:264930 obsolete primary interstitial lung disease in childhood and adulthood due to alveolar structure disorder -MONDO:0018603 interstitial lung disease due to SP-C deficiency MONDO:0028569 Orphanet:440392 Orphanet:264992 obsolete genetic interstitial lung disease -MONDO:0018607 combined hamartoma of the retina and retinal pigment epithelium MONDO:0015121 Orphanet:440727 Orphanet:101950 obsolete rare eye tumor -MONDO:0018608 pure autonomic failure MONDO:0018497 Orphanet:441 Orphanet:423662 obsolete rare autonomic nervous system disorder -MONDO:0018609 obsolete syndromic hereditary optic neuropathy MONDO:0020249 Orphanet:441434 Orphanet:98671 hereditary optic neuropathy -MONDO:0018612 congenital hypothyroidism MONDO:0015893 Orphanet:442 Orphanet:181396 obsolete rare hypothyroidism -MONDO:0018612 congenital hypothyroidism MONDO:0019590 Orphanet:442 Orphanet:90692 obsolete rare endocrine growth disease -MONDO:0018614 undetermined early-onset epileptic encephalopathy MONDO:0035862 Orphanet:442835 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome -MONDO:0018617 baroreflex failure MONDO:0018497 Orphanet:443084 Orphanet:423662 obsolete rare autonomic nervous system disorder -MONDO:0018617 baroreflex failure MONDO:0032013 Orphanet:443084 Orphanet:377792 obsolete clinical syndrome -MONDO:0018618 obsolete 46,XY disorder of sexual development due to dihydrotestosterone backdoor pathway biosynthesis defect MONDO:0017970 Orphanet:443090 Orphanet:325357 obsolete 46,XY disorder of sex development due to impaired androgen production -MONDO:0018620 hypothalamic adipsic hypernatraemia syndrome MONDO:0015889 Orphanet:443101 Orphanet:181384 obsolete rare hypothalamic or pituitary disease -MONDO:0018620 hypothalamic adipsic hypernatraemia syndrome MONDO:0016756 Orphanet:443101 Orphanet:252190 obsolete inherited nervous system cancer-predisposing syndrome -MONDO:0018623 postpartum psychosis MONDO:0015582 Orphanet:443173 Orphanet:163637 obsolete rare disorder related with pregnancy, childbirth and puerperium -MONDO:0018623 postpartum psychosis MONDO:0020016 Orphanet:443173 Orphanet:98033 obsolete rare neurologic disease with psychiatric involvement -MONDO:0018624 spontaneous intracranial hypotension MONDO:0020011 Orphanet:443180 Orphanet:98022 obsolete rare headache disorder -MONDO:0018625 classic stiff person syndrome MONDO:8000031 Orphanet:443192 Orphanet:557494 obsolete subtype of a disorder -MONDO:0018628 HIV-associated cancer MONDO:0032014 Orphanet:443291 Orphanet:377793 obsolete particular clinical situation in a disease or syndrome -MONDO:0018629 focal stiff limb syndrome MONDO:8000031 Orphanet:443804 Orphanet:557494 obsolete subtype of a disorder -MONDO:0018630 hereditary nonpolyposis colon cancer MONDO:0017128 Orphanet:443909 Orphanet:271835 obsolete inherited digestive tract tumor -MONDO:0018630 hereditary nonpolyposis colon cancer MONDO:0018538 Orphanet:443909 Orphanet:425003 obsolete inherited digestive cancer-predisposing syndrome -MONDO:0018630 hereditary nonpolyposis colon cancer MONDO:0035645 Orphanet:443909 Orphanet:589746 obsolete inherited gynecological cancer-predisposing syndrome -MONDO:0018631 Marie Unna hereditary hypotrichosis MONDO:0021034 Orphanet:444 Orphanet:481771 obsolete hereditary alopecia -MONDO:0018632 11q22.2q22.3 microdeletion syndrome MONDO:0035863 Orphanet:444002 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0018632 11q22.2q22.3 microdeletion syndrome MONDO:8000032 Orphanet:444002 Orphanet:377789 obsolete malformation syndrome -MONDO:0018633 20q11.2 microdeletion syndrome MONDO:0035863 Orphanet:444051 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0018633 20q11.2 microdeletion syndrome MONDO:8000032 Orphanet:444051 Orphanet:377789 obsolete malformation syndrome -MONDO:0018634 hereditary amyloidosis MONDO:0028795 Orphanet:444116 Orphanet:271870 obsolete rare genetic systemic or rheumatologic disease -MONDO:0018636 autoimmune hemolytic anemia-autoimmune thrombocytopenia-primary immunodeficiency syndrome MONDO:0015709 Orphanet:444463 Orphanet:169355 obsolete immunodeficiency syndrome with autoimmunity -MONDO:0018636 autoimmune hemolytic anemia-autoimmune thrombocytopenia-primary immunodeficiency syndrome MONDO:0015939 Orphanet:444463 Orphanet:182228 obsolete systemic autoimmune disease -MONDO:0018637 familial chylomicronemia syndrome MONDO:0015901 Orphanet:444490 Orphanet:181422 obsolete rare inherited hyperlipidemia -MONDO:0018638 pseudohypoaldosteronism MONDO:0019744 Orphanet:444916 Orphanet:93603 obsolete rare renal tubular disease -MONDO:0018639 caudal regression-sirenomelia spectrum MONDO:0015226 Orphanet:444941 Orphanet:109009 obsolete syndrome with limb malformations as a major feature -MONDO:0018639 caudal regression-sirenomelia spectrum MONDO:0015246 Orphanet:444941 Orphanet:117573 obsolete syndromic anorectal malformation -MONDO:0018639 caudal regression-sirenomelia spectrum MONDO:0015620 Orphanet:444941 Orphanet:165707 obsolete syndromic urogenital tract malformation -MONDO:0018644 autosomal dominant complex spastic paraplegia type 9B MONDO:0017914 Orphanet:447757 Orphanet:320342 obsolete pure or complex autosomal dominant spastic paraplegia -MONDO:0018645 IgG4-related sclerosing cholangitis MONDO:8000031 Orphanet:447764 Orphanet:557494 obsolete subtype of a disorder -MONDO:0018646 sclerosing cholangitis MONDO:0015116 Orphanet:447771 Orphanet:101941 obsolete rare biliary tract disease -MONDO:0018648 Keratocystic odontogenic tumor MONDO:0017797 Orphanet:447777 Orphanet:314425 obsolete rare odontologic tumor -MONDO:0018649 obsolete cerebral visual impairment MONDO:0019110 Orphanet:447788 Orphanet:71281 obsolete rare central nervous system or retinal vascular disease -MONDO:0018649 obsolete cerebral visual impairment MONDO:0032013 Orphanet:447788 Orphanet:377792 obsolete clinical syndrome -MONDO:0018649 obsolete cerebral visual impairment MONDO:0034962 Orphanet:447788 Orphanet:519343 obsolete rare ophthalmic disorder with cortical involvement -MONDO:0018651 obsolete lipoyl transferase 2 deficiency MONDO:0016402 Orphanet:447795 Orphanet:225700 obsolete mitochondrial disease with epilepsy -MONDO:0018651 obsolete lipoyl transferase 2 deficiency MONDO:0018424 Orphanet:447795 Orphanet:401854 inherited lipoic acid biosynthesis defect -MONDO:0018651 obsolete lipoyl transferase 2 deficiency MONDO:0019058 Orphanet:447795 Orphanet:68385 obsolete neurometabolic disease -MONDO:0018651 obsolete lipoyl transferase 2 deficiency MONDO:0032011 Orphanet:447795 Orphanet:377790 obsolete biological anomaly -MONDO:0018652 obsolete biological anomaly without phenotypic characterization MONDO:0021198 Orphanet:447874 Orphanet:98053 obsolete rare genetic disease -MONDO:0018653 Polymerase proofreading-related adenomatous polyposis MONDO:8000031 Orphanet:447877 Orphanet:557494 obsolete subtype of a disorder -MONDO:0018654 idiopathic dropped head syndrome MONDO:0032013 Orphanet:447881 Orphanet:377792 obsolete clinical syndrome -MONDO:0018655 hypomyelination-cerebellar atrophy-hypoplasia of the corpus callosum syndrome MONDO:0016055 Orphanet:447893 Orphanet:199639 obsolete syndrome with corpus callosum agenesis /dysgenesis as a major feature -MONDO:0018655 hypomyelination-cerebellar atrophy-hypoplasia of the corpus callosum syndrome MONDO:0017122 Orphanet:447893 Orphanet:269573 obsolete genetic syndrome with corpus callosum agenesis/dysgenesis as a major feature -MONDO:0018655 hypomyelination-cerebellar atrophy-hypoplasia of the corpus callosum syndrome MONDO:0017333 Orphanet:447893 Orphanet:289494 obsolete hypomyelinating leukodystrophy with or without oligondontia and/or hypogonadism -MONDO:0018655 hypomyelination-cerebellar atrophy-hypoplasia of the corpus callosum syndrome MONDO:8000031 Orphanet:447893 Orphanet:557494 obsolete subtype of a disorder -MONDO:0018656 tremor-ataxia-central hypomyelination syndrome MONDO:0017333 Orphanet:447896 Orphanet:289494 obsolete hypomyelinating leukodystrophy with or without oligondontia and/or hypogonadism -MONDO:0018656 tremor-ataxia-central hypomyelination syndrome MONDO:0018609 Orphanet:447896 Orphanet:441434 obsolete syndromic hereditary optic neuropathy -MONDO:0018656 tremor-ataxia-central hypomyelination syndrome MONDO:8000031 Orphanet:447896 Orphanet:557494 obsolete subtype of a disorder -MONDO:0018657 pigmentation defects-palmoplantar keratoderma-skin carcinoma syndrome MONDO:0017671 Orphanet:447961 Orphanet:307804 obsolete autosomal recessive disease with diffuse palmoplantar keratoderma as a major feature -MONDO:0018657 pigmentation defects-palmoplantar keratoderma-skin carcinoma syndrome MONDO:0019183 Orphanet:447961 Orphanet:77830 obsolete inherited odontologic disease -MONDO:0018657 pigmentation defects-palmoplantar keratoderma-skin carcinoma syndrome MONDO:0020014 Orphanet:447961 Orphanet:98027 obsolete rare disease with odontological manifestation -MONDO:0018657 pigmentation defects-palmoplantar keratoderma-skin carcinoma syndrome MONDO:0021034 Orphanet:447961 Orphanet:481771 obsolete hereditary alopecia -MONDO:0018657 pigmentation defects-palmoplantar keratoderma-skin carcinoma syndrome MONDO:0026157 Orphanet:447961 Orphanet:183463 obsolete genetic pigmentation anomaly of the skin -MONDO:0018658 19p13.3 microduplication syndrome MONDO:0035863 Orphanet:447980 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0018658 19p13.3 microduplication syndrome MONDO:8000032 Orphanet:447980 Orphanet:377789 obsolete malformation syndrome -MONDO:0018660 hemophilia MONDO:0019039 Orphanet:448 Orphanet:68334 obsolete rare hemorrhagic disorder due to a constitutional coagulation factors defect -MONDO:0018661 Zika virus infectious disease MONDO:0015576 Orphanet:448237 Orphanet:163585 obsolete rare viral disease -MONDO:0018662 autosomal recessive brachyolmia MONDO:8000032 Orphanet:448242 Orphanet:377789 obsolete malformation syndrome -MONDO:0018663 regressive spondylometaphyseal dysplasia MONDO:8000032 Orphanet:448267 Orphanet:377789 obsolete malformation syndrome -MONDO:0018664 ectopia cordis MONDO:8000030 Orphanet:448270 Orphanet:377791 obsolete morphological anomaly -MONDO:0018666 hepatoblastoma MONDO:0017632 Orphanet:449 Orphanet:306636 obsolete rare tumor of liver and intrahepatic biliary tract -MONDO:0018667 pleural empyema MONDO:0015118 Orphanet:449266 Orphanet:101944 obsolete rare pulmonary disease -MONDO:0018667 pleural empyema MONDO:0032014 Orphanet:449266 Orphanet:377793 obsolete particular clinical situation in a disease or syndrome -MONDO:0018668 scedosporiosis MONDO:0015578 Orphanet:449280 Orphanet:163591 obsolete rare mycosis -MONDO:0018669 snakebite envenomation MONDO:0035328 Orphanet:449285 Orphanet:556508 obsolete rare disorder due to poisoning -MONDO:0018670 symptomatic form of fragile X syndrome in female carrier MONDO:0034443 Orphanet:449291 Orphanet:485382 obsolete genetic non-acquired premature ovarian failure -MONDO:0018671 IgG4-related kidney disease MONDO:8000031 Orphanet:449395 Orphanet:557494 obsolete subtype of a disorder -MONDO:0018672 IgG4-related aortitis MONDO:0015621 Orphanet:449400 Orphanet:165711 obsolete rare abdominal surgical disease -MONDO:0018672 IgG4-related aortitis MONDO:8000031 Orphanet:449400 Orphanet:557494 obsolete subtype of a disorder -MONDO:0018673 IgG4-related pachymeningitis MONDO:0015144 Orphanet:449427 Orphanet:102005 obsolete brain inflammatory disease -MONDO:0018673 IgG4-related pachymeningitis MONDO:8000031 Orphanet:449427 Orphanet:557494 obsolete subtype of a disorder -MONDO:0018674 IgG4-related submandibular gland disease MONDO:0020017 Orphanet:449432 Orphanet:98036 obsolete rare otorhinolaryngologic disease -MONDO:0018674 IgG4-related submandibular gland disease MONDO:8000031 Orphanet:449432 Orphanet:557494 obsolete subtype of a disorder -MONDO:0018675 IgG4-related ophthalmic disorder MONDO:8000031 Orphanet:449563 Orphanet:557494 obsolete subtype of a disorder -MONDO:0018676 eosinophilic angiocentric fibrosis MONDO:0020017 Orphanet:449566 Orphanet:98036 obsolete rare otorhinolaryngologic disease -MONDO:0018677 visceral heterotaxy MONDO:0015213 Orphanet:157769 Orphanet:108971 obsolete non-syndromic visceral malformation -MONDO:0018677 visceral heterotaxy MONDO:0017131 Orphanet:157769 Orphanet:271853 obsolete hereditary cardiac anomaly -MONDO:0018677 visceral heterotaxy MONDO:0020284 Orphanet:450 Orphanet:98716 obsolete heart position anomaly -MONDO:0018677 visceral heterotaxy MONDO:8000030 Orphanet:157769 Orphanet:377791 obsolete morphological anomaly -MONDO:0018678 polyclonal hyperviscosity syndrome MONDO:0032013 Orphanet:450322 Orphanet:377792 obsolete clinical syndrome -MONDO:0018679 primary cutaneous plasmacytosis MONDO:0019546 Orphanet:451602 Orphanet:90077 obsolete other acquired skin disease -MONDO:0018680 cutaneous pseudolymphoma MONDO:0019546 Orphanet:451607 Orphanet:90077 obsolete other acquired skin disease -MONDO:0018681 neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-hip dysplasia syndrome MONDO:0015506 Orphanet:453499 Orphanet:156532 obsolete rare syndrome with cardiac malformations -MONDO:0018681 neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-hip dysplasia syndrome MONDO:0019711 Orphanet:453499 Orphanet:93454 obsolete dysostosis with predominant vertebral and costal involvement -MONDO:0018681 neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-hip dysplasia syndrome MONDO:0035863 Orphanet:453499 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0018681 neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-hip dysplasia syndrome MONDO:8000032 Orphanet:453499 Orphanet:377789 obsolete malformation syndrome -MONDO:0018682 congenital insensitivity to pain with severe intellectual disability MONDO:0015366 Orphanet:453510 Orphanet:140477 obsolete autosomal recessive hereditary sensory and autonomic neuropathy -MONDO:0018682 congenital insensitivity to pain with severe intellectual disability MONDO:0035862 Orphanet:453510 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome -MONDO:0018684 idiopathic neonatal atrial flutter MONDO:0016348 Orphanet:45452 Orphanet:218439 obsolete non-genetic cardiac rhythm disease -MONDO:0018685 incessant infant ventricular tachycardia MONDO:0016348 Orphanet:45453 Orphanet:218439 obsolete non-genetic cardiac rhythm disease -MONDO:0018686 acquired Creutzfeldt-Jakob disease MONDO:0017641 Orphanet:454700 Orphanet:306695 obsolete miscellaneous movement disorder due to neurodegenerative disease -MONDO:0018687 progressive muscular atrophy MONDO:0015918 Orphanet:454706 Orphanet:182070 obsolete rare neurodegenerative disease -MONDO:0018692 variably protease-sensitive prionopathy MONDO:0017641 Orphanet:454742 Orphanet:306695 obsolete miscellaneous movement disorder due to neurodegenerative disease -MONDO:0018692 variably protease-sensitive prionopathy MONDO:0035561 Orphanet:454742 Orphanet:576356 obsolete sporadic human prion disease -MONDO:0018694 isolated tracheo-esophageal fistula MONDO:0015207 Orphanet:454750 Orphanet:108959 obsolete non-syndromic esophageal malformation -MONDO:0018694 isolated tracheo-esophageal fistula MONDO:0015221 Orphanet:454750 Orphanet:108993 obsolete non-syndromic respiratory or mediastinal malformation -MONDO:0018694 isolated tracheo-esophageal fistula MONDO:0015930 Orphanet:454750 Orphanet:182111 obsolete respiratory malformation -MONDO:0018694 isolated tracheo-esophageal fistula MONDO:8000030 Orphanet:454750 Orphanet:377791 obsolete morphological anomaly -MONDO:0018695 avian influenza MONDO:0015118 Orphanet:454836 Orphanet:101944 obsolete rare pulmonary disease -MONDO:0018695 avian influenza MONDO:0015576 Orphanet:454836 Orphanet:163585 obsolete rare viral disease -MONDO:0018696 corticobasal syndrome MONDO:0017635 Orphanet:454887 Orphanet:306666 obsolete parkinsonian syndrome due to neurodegenerative disease -MONDO:0018696 corticobasal syndrome MONDO:0017643 Orphanet:454887 Orphanet:306708 obsolete frontotemporal neurodegeneration with movement disorder -MONDO:0018696 corticobasal syndrome MONDO:0020137 Orphanet:454887 Orphanet:98535 obsolete frontotemporal degeneration with dementia -MONDO:0018697 1p35.2 microdeletion syndrome MONDO:0015329 Orphanet:456298 Orphanet:139021 obsolete malformation syndrome with short stature -MONDO:0018697 1p35.2 microdeletion syndrome MONDO:0019589 Orphanet:456298 Orphanet:90642 obsolete syndromic genetic hearing loss -MONDO:0018697 1p35.2 microdeletion syndrome MONDO:0035863 Orphanet:456298 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0018697 1p35.2 microdeletion syndrome MONDO:8000032 Orphanet:456298 Orphanet:377789 obsolete malformation syndrome -MONDO:0018698 hereditary neuroendocrine tumor of small intestine MONDO:0018538 Orphanet:456333 Orphanet:425003 obsolete inherited digestive cancer-predisposing syndrome -MONDO:0018699 obsolete pseudohypoparathyroidism with Albright hereditary osteodystrophy MONDO:0016565 Orphanet:457059 Orphanet:240371 obsolete syndromic genetic obesity -MONDO:0018699 obsolete pseudohypoparathyroidism with Albright hereditary osteodystrophy MONDO:0018798 Orphanet:457059 Orphanet:477808 obsolete other genetic dermis disorder -MONDO:0018699 obsolete pseudohypoparathyroidism with Albright hereditary osteodystrophy MONDO:0019695 Orphanet:457059 Orphanet:93436 acromelic dysplasia -MONDO:0018699 obsolete pseudohypoparathyroidism with Albright hereditary osteodystrophy MONDO:0019992 Orphanet:457059 Orphanet:97593 pseudohypoparathyroidism -MONDO:0018699 obsolete pseudohypoparathyroidism with Albright hereditary osteodystrophy MONDO:0020232 Orphanet:457059 Orphanet:98648 obsolete musculoskeletal disease with cataract -MONDO:0018699 obsolete pseudohypoparathyroidism with Albright hereditary osteodystrophy MONDO:0021154 Orphanet:457059 Orphanet:79381 dermis disorder -MONDO:0018700 obsolete pseudohypoparathyroidism without Albright hereditary osteodystrophy MONDO:0019992 Orphanet:457062 Orphanet:97593 pseudohypoparathyroidism -MONDO:0018701 obsolete congenital nemaline myopathy MONDO:0019952 Orphanet:457074 Orphanet:97245 congenital myopathy -MONDO:0018702 Castleman-Kojima disease MONDO:0016631 Orphanet:457077 Orphanet:248347 obsolete hemorrhagic disorder due to an acquired platelet anomaly -MONDO:0018703 isolated splenogonadal fusion MONDO:0015213 Orphanet:457083 Orphanet:108971 obsolete non-syndromic visceral malformation -MONDO:0018703 isolated splenogonadal fusion MONDO:8000030 Orphanet:457083 Orphanet:377791 obsolete morphological anomaly -MONDO:0018705 infantile-onset axonal motor and sensory neuropathy-optic atrophy-neurodegenerative syndrome MONDO:0015918 Orphanet:457205 Orphanet:182070 obsolete rare neurodegenerative disease -MONDO:0018705 infantile-onset axonal motor and sensory neuropathy-optic atrophy-neurodegenerative syndrome MONDO:0018609 Orphanet:457205 Orphanet:441434 obsolete syndromic hereditary optic neuropathy -MONDO:0018705 infantile-onset axonal motor and sensory neuropathy-optic atrophy-neurodegenerative syndrome MONDO:0019601 Orphanet:457205 Orphanet:91024 obsolete autosomal recessive axonal hereditary motor and sensory neuropathy -MONDO:0018705 infantile-onset axonal motor and sensory neuropathy-optic atrophy-neurodegenerative syndrome MONDO:0035863 Orphanet:457205 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0018706 syndromic sensorineural deafness due to combined oxidative phosphorylation defect MONDO:0018157 Orphanet:457223 Orphanet:35696 obsolete mitochondrial disorder due to a defect in mitochondrial protein synthesis -MONDO:0018706 syndromic sensorineural deafness due to combined oxidative phosphorylation defect MONDO:0019589 Orphanet:457223 Orphanet:90642 obsolete syndromic genetic hearing loss -MONDO:0018709 X-linked intellectual disability-hypotonia-movement disorder syndrome MONDO:0035862 Orphanet:457260 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome -MONDO:0018710 megalencephaly-severe kyphoscoliosis-overgrowth syndrome MONDO:0035863 Orphanet:457359 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0018710 megalencephaly-severe kyphoscoliosis-overgrowth syndrome MONDO:8000032 Orphanet:457359 Orphanet:377789 obsolete malformation syndrome -MONDO:0018711 intellectual disability-muscle weakness-short stature-facial dysmorphism syndrome MONDO:0015329 Orphanet:457365 Orphanet:139021 obsolete malformation syndrome with short stature -MONDO:0018711 intellectual disability-muscle weakness-short stature-facial dysmorphism syndrome MONDO:0026187 Orphanet:457365 Orphanet:183570 obsolete genetic malformation syndrome with short stature -MONDO:0018711 intellectual disability-muscle weakness-short stature-facial dysmorphism syndrome MONDO:0035863 Orphanet:457365 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0018711 intellectual disability-muscle weakness-short stature-facial dysmorphism syndrome MONDO:8000032 Orphanet:457365 Orphanet:377789 obsolete malformation syndrome -MONDO:0018712 composite hemangioendothelioma MONDO:0016228 Orphanet:458758 Orphanet:211237 obsolete rare vascular tumor -MONDO:0018713 retiform hemangioendothelioma MONDO:0016228 Orphanet:458763 Orphanet:211237 obsolete rare vascular tumor -MONDO:0018714 primary intralymphatic angioendothelioma MONDO:0016228 Orphanet:458768 Orphanet:211237 obsolete rare vascular tumor -MONDO:0018715 congenital hemangioma MONDO:0016228 Orphanet:458775 Orphanet:211237 obsolete rare vascular tumor -MONDO:0018717 mixed cystic lymphatic malformation MONDO:0018720 Orphanet:458792 Orphanet:458833 obsolete common cystic lymphatic malformation -MONDO:0018717 mixed cystic lymphatic malformation MONDO:8000032 Orphanet:458792 Orphanet:377789 obsolete malformation syndrome -MONDO:0018718 obsolete vascular tumor with associated anomalies MONDO:0016228 Orphanet:458827 Orphanet:211237 obsolete rare vascular tumor -MONDO:0018719 obsolete obsolete rare capillary malformation with associated anomalies MONDO:0016231 Orphanet:458830 Orphanet:211247 capillary malformation -MONDO:0018719 obsolete obsolete rare capillary malformation with associated anomalies MONDO:0018728 Orphanet:458830 Orphanet:459526 obsolete rare genetic capillary malformation -MONDO:0018720 obsolete common cystic lymphatic malformation MONDO:0002013 Orphanet:458833 Orphanet:2415 lymphangioma -MONDO:0018721 obsolete rare combined vascular malformation MONDO:0019063 Orphanet:458837 Orphanet:68419 obsolete vascular anomaly -MONDO:0018723 obsolete rare vascular malformation of major vessels MONDO:0019063 Orphanet:458844 Orphanet:68419 obsolete vascular anomaly -MONDO:0018724 X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome MONDO:0017118 Orphanet:459070 Orphanet:269523 obsolete syndrome with a cerebellar malformation as major feature -MONDO:0018724 X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome MONDO:0035863 Orphanet:459070 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0018724 X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome MONDO:8000032 Orphanet:459070 Orphanet:377789 obsolete malformation syndrome -MONDO:0018725 corpus callosum agenesis-macrocephaly-hypertelorism syndrome MONDO:0016055 Orphanet:459074 Orphanet:199639 obsolete syndrome with corpus callosum agenesis /dysgenesis as a major feature -MONDO:0018725 corpus callosum agenesis-macrocephaly-hypertelorism syndrome MONDO:0017122 Orphanet:459074 Orphanet:269573 obsolete genetic syndrome with corpus callosum agenesis/dysgenesis as a major feature -MONDO:0018725 corpus callosum agenesis-macrocephaly-hypertelorism syndrome MONDO:0035863 Orphanet:459074 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0018725 corpus callosum agenesis-macrocephaly-hypertelorism syndrome MONDO:8000032 Orphanet:459074 Orphanet:377789 obsolete malformation syndrome -MONDO:0018727 obsolete immunodeficiency due to a complement regulatory deficiency MONDO:0015136 Orphanet:459348 Orphanet:101992 obsolete immunodeficiency due to a genetic complement cascade protein anomaly -MONDO:0018728 obsolete rare genetic capillary malformation MONDO:0016229 Orphanet:459526 Orphanet:211240 obsolete hereditary vascular anomaly -MONDO:0018729 obsolete genetic vascular tumor MONDO:0016229 Orphanet:459543 Orphanet:211240 obsolete hereditary vascular anomaly -MONDO:0018730 obsolete rare genetic venous malformation MONDO:0016229 Orphanet:459548 Orphanet:211240 obsolete hereditary vascular anomaly -MONDO:0018731 obsolete lethal multiple congenital anomalies/dysmorphic syndrome MONDO:0019042 Orphanet:459787 Orphanet:68341 multiple congenital anomalies/dysmorphic syndrome -MONDO:0018733 intellectual disability syndrome due to a DYRK1A point mutation MONDO:8000031 Orphanet:464311 Orphanet:557494 obsolete subtype of a disorder -MONDO:0018734 verrucous hemangioma MONDO:0016228 Orphanet:464318 Orphanet:211237 obsolete rare vascular tumor -MONDO:0018735 multifocal lymphangioendotheliomatosis-thrombocytopenia syndrome MONDO:0016631 Orphanet:464321 Orphanet:248347 obsolete hemorrhagic disorder due to an acquired platelet anomaly -MONDO:0018736 kaposiform lymphangiomatosis MONDO:0016228 Orphanet:464329 Orphanet:211237 obsolete rare vascular tumor -MONDO:0018737 catastrophic antiphospholipid syndrome MONDO:0015939 Orphanet:464343 Orphanet:182228 obsolete systemic autoimmune disease -MONDO:0018737 catastrophic antiphospholipid syndrome MONDO:0016634 Orphanet:464343 Orphanet:248365 obsolete thrombotic disorder due to an acquired coagulation factors defect -MONDO:0018738 benign metanephric tumor MONDO:0019749 Orphanet:464359 Orphanet:93619 obsolete rare renal tumor -MONDO:0018739 neonatal alloimmune neutropenia MONDO:0015822 Orphanet:464370 Orphanet:178996 obsolete acquired neutropenia -MONDO:0018741 paracetamol poisoning MONDO:0017633 Orphanet:464458 Orphanet:306640 obsolete rare intoxication due to medical products -MONDO:0018741 paracetamol poisoning MONDO:0032014 Orphanet:464458 Orphanet:377793 obsolete particular clinical situation in a disease or syndrome -MONDO:0018742 familial gastric type 1 neuroendocrine tumor MONDO:0018972 Orphanet:464756 Orphanet:63443 obsolete rare epithelial tumor of stomach -MONDO:0018743 obsolete immune-mediated acquired neuromuscular junction disease MONDO:0020125 Orphanet:464764 Orphanet:98494 obsolete acquired neuromuscular junction disease -MONDO:0018745 obsolete superficial pemphigus MONDO:0019337 Orphanet:46485 Orphanet:79669 autoimmune bullous skin disease -MONDO:0018746 mucous membrane pemphigoid MONDO:0020158 Orphanet:46486 Orphanet:98567 obsolete eyelids malposition disorder -MONDO:0018749 hereditary persistence of fetal hemoglobin-beta-thalassemia syndrome MONDO:0016488 Orphanet:46532 Orphanet:231230 obsolete beta-thalassemia associated with another hemoglobin anomaly -MONDO:0018751 hereditary otorhinolaryngologic disease MONDO:0021198 Orphanet:466084 Orphanet:98053 obsolete rare genetic disease -MONDO:0018752 exercise-induced malignant hyperthermia MONDO:0018753 Orphanet:466650 Orphanet:466658 obsolete rare disease with malignant hyperthermia -MONDO:0018753 obsolete rare disease with malignant hyperthermia MONDO:0020009 Orphanet:466658 Orphanet:98006 obsolete rare neurologic disease -MONDO:0018754 cyanide poisoning MONDO:0017633 Orphanet:466670 Orphanet:306640 obsolete rare intoxication due to medical products -MONDO:0018754 cyanide poisoning MONDO:0032014 Orphanet:466670 Orphanet:377793 obsolete particular clinical situation in a disease or syndrome -MONDO:0018755 scorpion envenomation MONDO:0035328 Orphanet:466677 Orphanet:556508 obsolete rare disorder due to poisoning -MONDO:0018757 supratip dysplasia MONDO:0015503 Orphanet:466695 Orphanet:156246 obsolete nose and cavum anomaly -MONDO:0018757 supratip dysplasia MONDO:8000030 Orphanet:466695 Orphanet:377791 obsolete morphological anomaly -MONDO:0018758 obsolete familial patent arterial duct MONDO:0016229 Orphanet:466729 Orphanet:211240 obsolete hereditary vascular anomaly -MONDO:0018758 obsolete familial patent arterial duct MONDO:0017131 Orphanet:466729 Orphanet:271853 obsolete hereditary cardiac anomaly -MONDO:0018758 obsolete familial patent arterial duct MONDO:0019822 Orphanet:466729 Orphanet:95485 obsolete arterial duct anomaly -MONDO:0018758 obsolete familial patent arterial duct MONDO:8000030 Orphanet:466729 Orphanet:377791 obsolete morphological anomaly -MONDO:0018760 DeSanto-Shinawi syndrome MONDO:0035863 Orphanet:466943 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0018760 DeSanto-Shinawi syndrome MONDO:8000032 Orphanet:466943 Orphanet:377789 obsolete malformation syndrome -MONDO:0018761 SMARCA4-deficient sarcoma of thorax MONDO:0020034 Orphanet:466962 Orphanet:98060 obsolete rare respiratory tract neoplasm -MONDO:0018763 tubulinopathy-associated dysgyria MONDO:0016055 Orphanet:467166 Orphanet:199639 obsolete syndrome with corpus callosum agenesis /dysgenesis as a major feature -MONDO:0018763 tubulinopathy-associated dysgyria MONDO:0017118 Orphanet:467166 Orphanet:269523 obsolete syndrome with a cerebellar malformation as major feature -MONDO:0018763 tubulinopathy-associated dysgyria MONDO:0017122 Orphanet:467166 Orphanet:269573 obsolete genetic syndrome with corpus callosum agenesis/dysgenesis as a major feature -MONDO:0018764 microcephalic primordial dwarfism due to RTTN deficiency MONDO:0017950 Orphanet:468631 Orphanet:324761 obsolete microcephalic primordial dwarfism -MONDO:0018764 microcephalic primordial dwarfism due to RTTN deficiency MONDO:8000032 Orphanet:468631 Orphanet:377789 obsolete malformation syndrome -MONDO:0018765 cryptogenic multifocal ulcerous stenosing enteritis MONDO:0015245 Orphanet:468635 Orphanet:117569 obsolete rare intestinal disease -MONDO:0018765 cryptogenic multifocal ulcerous stenosing enteritis MONDO:0015616 Orphanet:468635 Orphanet:165655 obsolete rare genetic intestinal disease -MONDO:0018766 chronic enteropathy associated with SLCO2A1 gene MONDO:0015245 Orphanet:468641 Orphanet:117569 obsolete rare intestinal disease -MONDO:0018766 chronic enteropathy associated with SLCO2A1 gene MONDO:0015616 Orphanet:468641 Orphanet:165655 obsolete rare genetic intestinal disease -MONDO:0018769 isosporiasis MONDO:0015577 Orphanet:472 Orphanet:163588 obsolete rare parasitic disease -MONDO:0018770 Jeune syndrome MONDO:0019744 Orphanet:474 Orphanet:93603 obsolete rare renal tubular disease -MONDO:0018770 Jeune syndrome MONDO:0022409 Orphanet:474 Orphanet:156162 obsolete nephropathy-associated ciliopathy -MONDO:0018770 Jeune syndrome MONDO:8000032 Orphanet:474 Orphanet:377789 obsolete malformation syndrome -MONDO:0018771 obsolete congenital anomaly of ventricular septum MONDO:0019512 Orphanet:474347 Orphanet:88991 congenital heart malformation -MONDO:0018772 Joubert syndrome MONDO:0020130 Orphanet:475 Orphanet:98514 obsolete malformation of the cerebellar vermis -MONDO:0018772 Joubert syndrome MONDO:0035863 Orphanet:475 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0018772 Joubert syndrome MONDO:8000032 Orphanet:475 Orphanet:377789 obsolete malformation syndrome -MONDO:0018774 erythrokeratodermia-cardiomyopathy syndrome MONDO:0016337 Orphanet:476096 Orphanet:217619 obsolete syndrome associated with dilated cardiomyopathy -MONDO:0018774 erythrokeratodermia-cardiomyopathy syndrome MONDO:0019183 Orphanet:476096 Orphanet:77830 obsolete inherited odontologic disease -MONDO:0018774 erythrokeratodermia-cardiomyopathy syndrome MONDO:0020014 Orphanet:476096 Orphanet:98027 obsolete rare disease with odontological manifestation -MONDO:0018774 erythrokeratodermia-cardiomyopathy syndrome MONDO:0026150 Orphanet:476096 Orphanet:183438 obsolete genetic erythrokeratoderma -MONDO:0018775 obsolete axonal hereditary motor and sensory neuropathy MONDO:0015626 Orphanet:476109 Orphanet:166 Charcot-Marie-Tooth disease -MONDO:0018777 autosomal dominant preaxial polydactyly-upperback hypertrichosis syndrome MONDO:0017434 Orphanet:476119 Orphanet:294959 obsolete syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy -MONDO:0018777 autosomal dominant preaxial polydactyly-upperback hypertrichosis syndrome MONDO:8000032 Orphanet:476119 Orphanet:377789 obsolete malformation syndrome -MONDO:0018779 obsolete hypercontractile muscle stiffness syndrome MONDO:0018943 Orphanet:476403 Orphanet:593 myofibrillar myopathy -MONDO:0018780 congenital generalized hypercontractile muscle stiffness syndrome MONDO:0015329 Orphanet:476406 Orphanet:139021 obsolete malformation syndrome with short stature -MONDO:0018780 congenital generalized hypercontractile muscle stiffness syndrome MONDO:0018779 Orphanet:476406 Orphanet:476403 obsolete hypercontractile muscle stiffness syndrome -MONDO:0018780 congenital generalized hypercontractile muscle stiffness syndrome MONDO:0026187 Orphanet:476406 Orphanet:183570 obsolete genetic malformation syndrome with short stature -MONDO:0018781 KID syndrome MONDO:0017671 Orphanet:477 Orphanet:307804 obsolete autosomal recessive disease with diffuse palmoplantar keratoderma as a major feature -MONDO:0018781 KID syndrome MONDO:0019589 Orphanet:477 Orphanet:90642 obsolete syndromic genetic hearing loss -MONDO:0018781 KID syndrome MONDO:0020094 Orphanet:477 Orphanet:98352 obsolete autosomal dominant disease with diffuse palmoplantar keratoderma as a major feature -MONDO:0018781 KID syndrome MONDO:0029102 Orphanet:477 Orphanet:281244 obsolete autosomal ichthyosis syndrome with other associated signs -MONDO:0018782 obsolete type 1 interferonopathy MONDO:0019751 Orphanet:477647 Orphanet:93665 autoinflammatory syndrome -MONDO:0018783 fibroblastic rheumatism MONDO:0015940 Orphanet:477650 Orphanet:182231 obsolete rare rheumatologic disease -MONDO:0018784 pediatric multiple sclerosis MONDO:0016428 Orphanet:477738 Orphanet:228145 obsolete multiple sclerosis variant -MONDO:0018787 obsolete genetic cerebral small vessel disease MONDO:0015953 Orphanet:477754 Orphanet:183503 obsolete genetic central nervous system and retinal vascular disease -MONDO:0018787 obsolete genetic cerebral small vessel disease MONDO:0019110 Orphanet:477754 Orphanet:71281 obsolete rare central nervous system or retinal vascular disease -MONDO:0018788 obsolete COL4A1 or COL4A2-related cerebral small vessel disease MONDO:0018787 Orphanet:477759 Orphanet:477754 obsolete genetic cerebral small vessel disease -MONDO:0018789 obsolete COL4A1 or COL4A2-related cerebral small vessel disease with ischemic tendancy MONDO:0018788 Orphanet:477762 Orphanet:477759 obsolete COL4A1 or COL4A2-related cerebral small vessel disease -MONDO:0018790 obsolete COL4A1 or COL4A2-related cerebral small vessel disease with hemorrhagic tendancy MONDO:0018788 Orphanet:477765 Orphanet:477759 obsolete COL4A1 or COL4A2-related cerebral small vessel disease -MONDO:0018791 obsolete Moyomoya angiopathy MONDO:0019110 Orphanet:477768 Orphanet:71281 obsolete rare central nervous system or retinal vascular disease -MONDO:0018792 obsolete Moyamoya syndrome MONDO:0015953 Orphanet:477771 Orphanet:183503 obsolete genetic central nervous system and retinal vascular disease -MONDO:0018792 obsolete Moyamoya syndrome MONDO:0018791 Orphanet:477771 Orphanet:477768 obsolete Moyomoya angiopathy -MONDO:0018793 primary condylar hyperplasia MONDO:0016221 Orphanet:477781 Orphanet:210581 obsolete temporomandibular joint anomaly -MONDO:0018794 cytosolic phospholipase-A2 alpha deficiency associated bleeding disorder MONDO:0015245 Orphanet:477787 Orphanet:117569 obsolete rare intestinal disease -MONDO:0018794 cytosolic phospholipase-A2 alpha deficiency associated bleeding disorder MONDO:0015616 Orphanet:477787 Orphanet:165655 obsolete rare genetic intestinal disease -MONDO:0018794 cytosolic phospholipase-A2 alpha deficiency associated bleeding disorder MONDO:0017142 Orphanet:477787 Orphanet:275736 obsolete hemorrhagic disorder due to a qualitative platelet defect -MONDO:0018795 syndromic constitutional thrombocytopenia MONDO:0017141 Orphanet:477794 Orphanet:275729 obsolete hemorrhagic disorder due to a constitutional thrombocytopenia -MONDO:0018796 obsolete isolated constitutional thrombocytopenia MONDO:0017141 Orphanet:477797 Orphanet:275729 obsolete hemorrhagic disorder due to a constitutional thrombocytopenia -MONDO:0018797 obsolete genetic cardiac malformation MONDO:0020029 Orphanet:477805 Orphanet:98054 obsolete rare genetic cardiac disease -MONDO:0018798 obsolete other genetic dermis disorder MONDO:0026160 Orphanet:477808 Orphanet:183472 obsolete genetic dermis disorder -MONDO:0018799 obsolete rare hypercholesterolemia MONDO:0015901 Orphanet:477811 Orphanet:181422 obsolete rare inherited hyperlipidemia -MONDO:0018800 Kallmann syndrome MONDO:8000031 Orphanet:478 Orphanet:557494 obsolete subtype of a disorder -MONDO:0018801 congenital bilateral absence of vas deferens MONDO:0015933 Orphanet:48 Orphanet:182121 obsolete non-syndromic urogenital tract malformation of male -MONDO:0018801 congenital bilateral absence of vas deferens MONDO:0018407 Orphanet:48 Orphanet:399998 obsolete male infertility due to obstructive azoospermia of genetic origin -MONDO:0018801 congenital bilateral absence of vas deferens MONDO:0020091 Orphanet:48 Orphanet:98343 obsolete male infertility due to obstructive azoospermia -MONDO:0018801 congenital bilateral absence of vas deferens MONDO:0024987 Orphanet:48 Orphanet:156622 obsolete genetic urogenital tract malformation -MONDO:0018801 congenital bilateral absence of vas deferens MONDO:8000030 Orphanet:48 Orphanet:377791 obsolete morphological anomaly -MONDO:0018804 MYO5B-related progressive familial intrahepatic cholestasis MONDO:8000031 Orphanet:480491 Orphanet:557494 obsolete subtype of a disorder -MONDO:0018805 bile duct cyst MONDO:0015116 Orphanet:480501 Orphanet:101941 obsolete rare biliary tract disease -MONDO:0018805 bile duct cyst MONDO:8000030 Orphanet:480501 Orphanet:377791 obsolete morphological anomaly -MONDO:0018806 primary intrahepatic lithiasis MONDO:0015116 Orphanet:480506 Orphanet:101941 obsolete rare biliary tract disease -MONDO:0018807 idiopathic ductopenia MONDO:0015116 Orphanet:480512 Orphanet:101941 obsolete rare biliary tract disease -MONDO:0018808 Caroli syndrome MONDO:0015116 Orphanet:480520 Orphanet:101941 obsolete rare biliary tract disease -MONDO:0018808 Caroli syndrome MONDO:0015509 Orphanet:480520 Orphanet:156607 obsolete hereditary biliary tract disease -MONDO:0018808 Caroli syndrome MONDO:8000032 Orphanet:480520 Orphanet:377789 obsolete malformation syndrome -MONDO:0018809 idiopathic peliosis hepatis MONDO:0015113 Orphanet:480524 Orphanet:101938 obsolete rare vascular liver disease -MONDO:0018810 lethal hydranencephaly-diaphragmatic hernia syndrome MONDO:0015216 Orphanet:480528 Orphanet:108979 obsolete syndromic diaphragmatic or abdominal wall malformation -MONDO:0018810 lethal hydranencephaly-diaphragmatic hernia syndrome MONDO:0015880 Orphanet:480528 Orphanet:180779 obsolete syndromic diaphragmatic or thoracic malformation -MONDO:0018810 lethal hydranencephaly-diaphragmatic hernia syndrome MONDO:0017120 Orphanet:480528 Orphanet:269531 obsolete other syndrome with a central nervous system malformation as major feature -MONDO:0018810 lethal hydranencephaly-diaphragmatic hernia syndrome MONDO:0018731 Orphanet:480528 Orphanet:459787 obsolete lethal multiple congenital anomalies/dysmorphic syndrome -MONDO:0018810 lethal hydranencephaly-diaphragmatic hernia syndrome MONDO:8000032 Orphanet:480528 Orphanet:377789 obsolete malformation syndrome -MONDO:0018811 congenital portosystemic shunt MONDO:0015113 Orphanet:480531 Orphanet:101938 obsolete rare vascular liver disease -MONDO:0018811 congenital portosystemic shunt MONDO:0017710 Orphanet:480531 Orphanet:3091 obsolete congenital systemic veins anomaly -MONDO:0018811 congenital portosystemic shunt MONDO:8000030 Orphanet:480531 Orphanet:377791 obsolete morphological anomaly -MONDO:0018812 MSH3-related attenuated familial adenomatous polyposis MONDO:8000031 Orphanet:480536 Orphanet:557494 obsolete subtype of a disorder -MONDO:0018816 isolated neonatal sclerosing cholangitis MONDO:0015509 Orphanet:480556 Orphanet:156607 obsolete hereditary biliary tract disease -MONDO:0018818 facial diplegia with paresthesias MONDO:0016494 Orphanet:480701 Orphanet:231416 obsolete regional variant of Guillain-Barre syndrome -MONDO:0018820 recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome MONDO:0015110 Orphanet:480864 Orphanet:101934 obsolete genetic cardiac rhythm disease -MONDO:0018820 recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome MONDO:0015918 Orphanet:480864 Orphanet:182070 obsolete rare neurodegenerative disease -MONDO:0018820 recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome MONDO:0016406 Orphanet:480864 Orphanet:225713 obsolete other metabolic disease with epilepsy -MONDO:0018820 recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome MONDO:0035862 Orphanet:480864 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome -MONDO:0018821 X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability MONDO:0015329 Orphanet:480880 Orphanet:139021 obsolete malformation syndrome with short stature -MONDO:0018821 X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability MONDO:0026187 Orphanet:480880 Orphanet:183570 obsolete genetic malformation syndrome with short stature -MONDO:0018821 X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability MONDO:0035863 Orphanet:480880 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0018821 X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability MONDO:8000032 Orphanet:480880 Orphanet:377789 obsolete malformation syndrome -MONDO:0018822 global developmental delay-visual anomalies-progressive cerebellar atrophy-truncal hypotonia syndrome MONDO:0017118 Orphanet:480898 Orphanet:269523 obsolete syndrome with a cerebellar malformation as major feature -MONDO:0018822 global developmental delay-visual anomalies-progressive cerebellar atrophy-truncal hypotonia syndrome MONDO:0034962 Orphanet:480898 Orphanet:519343 obsolete rare ophthalmic disorder with cortical involvement -MONDO:0018822 global developmental delay-visual anomalies-progressive cerebellar atrophy-truncal hypotonia syndrome MONDO:0035863 Orphanet:480898 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0018823 X-linked intellectual disability-global development delay-facial dysmorphism-sacral caudal remnant syndrome MONDO:0035863 Orphanet:480907 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0018823 X-linked intellectual disability-global development delay-facial dysmorphism-sacral caudal remnant syndrome MONDO:8000032 Orphanet:480907 Orphanet:377789 obsolete malformation syndrome -MONDO:0018824 pyoderma gangrenosum MONDO:0017370 Orphanet:48104 Orphanet:290842 obsolete autoinflammatory syndrome with skin involvement -MONDO:0018824 pyoderma gangrenosum MONDO:0017954 Orphanet:48104 Orphanet:324927 obsolete pyogenic autoinflammatory syndrome -MONDO:0018825 PYCR2-related microcephaly-progressive leukoencephalopathy MONDO:0017119 Orphanet:481152 Orphanet:269528 obsolete syndrome with microcephaly as major feature -MONDO:0018825 PYCR2-related microcephaly-progressive leukoencephalopathy MONDO:0035863 Orphanet:481152 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0018825 PYCR2-related microcephaly-progressive leukoencephalopathy MONDO:8000032 Orphanet:481152 Orphanet:377789 obsolete malformation syndrome -MONDO:0018826 Lewis-Sumner syndrome MONDO:8000031 Orphanet:48162 Orphanet:557494 obsolete subtype of a disorder -MONDO:0018827 familial chilblain lupus MONDO:0015939 Orphanet:481662 Orphanet:182228 obsolete systemic autoimmune disease -MONDO:0018827 familial chilblain lupus MONDO:0015948 Orphanet:481662 Orphanet:183478 obsolete rare genetic skin vascular disorder -MONDO:0018827 familial chilblain lupus MONDO:0018782 Orphanet:481662 Orphanet:477647 obsolete type 1 interferonopathy -MONDO:0018827 familial chilblain lupus MONDO:0018792 Orphanet:481662 Orphanet:477771 obsolete Moyamoya syndrome -MONDO:0018828 pseudo-TORCH syndrome 2 MONDO:0018782 Orphanet:481665 Orphanet:477647 obsolete type 1 interferonopathy -MONDO:0018828 pseudo-TORCH syndrome 2 MONDO:0019117 Orphanet:481665 Orphanet:71859 obsolete genetic nervous system disorder -MONDO:0018828 pseudo-TORCH syndrome 2 MONDO:0020009 Orphanet:481665 Orphanet:98006 obsolete rare neurologic disease -MONDO:0018829 familial schizencephaly MONDO:0018790 Orphanet:481986 Orphanet:477765 obsolete COL4A1 or COL4A2-related cerebral small vessel disease with hemorrhagic tendancy -MONDO:0018829 familial schizencephaly MONDO:8000031 Orphanet:481986 Orphanet:557494 obsolete subtype of a disorder -MONDO:0018831 obsolete HTRA1-related cerebral small vessel disease MONDO:0015547 Orphanet:482072 Orphanet:158124 hereditary dementia -MONDO:0018831 obsolete HTRA1-related cerebral small vessel disease MONDO:0018787 Orphanet:482072 Orphanet:477754 obsolete genetic cerebral small vessel disease -MONDO:0018831 obsolete HTRA1-related cerebral small vessel disease MONDO:0019515 Orphanet:482072 Orphanet:89043 obsolete rare dementia -MONDO:0018832 HTRA1-related autosomal dominant cerebral small vessel disease MONDO:0018831 Orphanet:482077 Orphanet:482072 obsolete HTRA1-related cerebral small vessel disease -MONDO:0018833 obsolete rare idiopathic macular telangiectasia MONDO:0019110 Orphanet:482092 Orphanet:71281 obsolete rare central nervous system or retinal vascular disease -MONDO:0018835 nodular regenerative hyperplasia of the liver MONDO:8000031 Orphanet:48372 Orphanet:557494 obsolete subtype of a disorder -MONDO:0018837 postinfectious vasculitis MONDO:0015144 Orphanet:48435 Orphanet:102005 obsolete brain inflammatory disease -MONDO:0018838 lissencephaly spectrum disorders MONDO:0015220 Orphanet:48471 Orphanet:108991 obsolete syndrome with a central nervous system malformation as major feature -MONDO:0018838 lissencephaly spectrum disorders MONDO:0015655 Orphanet:48471 Orphanet:166478 obsolete cerebral malformation with epilepsy -MONDO:0018838 lissencephaly spectrum disorders MONDO:0035863 Orphanet:48471 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0018839 acquired schizencephaly MONDO:8000031 Orphanet:485275 Orphanet:557494 obsolete subtype of a disorder -MONDO:0018840 isolated congenital hepatic fibrosis MONDO:0015114 Orphanet:485426 Orphanet:101939 obsolete rare parenchymal liver disease -MONDO:0018841 congenital bile acid synthesis defect MONDO:0015581 Orphanet:485631 Orphanet:163631 obsolete bile acid synthesis defect with cholestasis and malabsorption -MONDO:0018843 embryonal carcinoma of the central nervous system MONDO:0016738 Orphanet:48736 Orphanet:251995 obsolete primary germ cell tumor of central nervous system -MONDO:0018843 embryonal carcinoma of the central nervous system MONDO:8000031 Orphanet:48736 Orphanet:557494 obsolete subtype of a disorder -MONDO:0018844 urachal cyst MONDO:8000030 Orphanet:488 Orphanet:377791 obsolete morphological anomaly -MONDO:0018846 penile agenesis MONDO:0015933 Orphanet:49 Orphanet:182121 obsolete non-syndromic urogenital tract malformation of male -MONDO:0018846 penile agenesis MONDO:8000030 Orphanet:49 Orphanet:377791 obsolete morphological anomaly -MONDO:0018847 omphalomesenteric cyst MONDO:0015215 Orphanet:490 Orphanet:108977 obsolete non-syndromic diaphragmatic or abdominal wall malformation -MONDO:0018847 omphalomesenteric cyst MONDO:8000030 Orphanet:490 Orphanet:377791 obsolete morphological anomaly -MONDO:0018848 IgG4-related retroperitoneal fibrosis MONDO:0015621 Orphanet:49041 Orphanet:165711 obsolete rare abdominal surgical disease -MONDO:0018848 IgG4-related retroperitoneal fibrosis MONDO:8000031 Orphanet:49041 Orphanet:557494 obsolete subtype of a disorder -MONDO:0018849 dentinogenesis imperfecta MONDO:0015668 Orphanet:49042 Orphanet:167759 obsolete hereditary dentin defect -MONDO:0018850 proliferating trichilemmal cyst MONDO:0019300 Orphanet:492 Orphanet:79386 obsolete rare skin tumor or hamartoma -MONDO:0018851 familial keratoacanthoma MONDO:0015950 Orphanet:493 Orphanet:183487 obsolete inherited skin tumor -MONDO:0018851 familial keratoacanthoma MONDO:0019300 Orphanet:493 Orphanet:79386 obsolete rare skin tumor or hamartoma -MONDO:0018853 transgrediens et progrediens palmoplantar keratoderma MONDO:0020093 Orphanet:495 Orphanet:98349 obsolete autosomal dominant isolated diffuse palmoplantar keratoderma -MONDO:0018854 acquired purpura fulminans MONDO:0016634 Orphanet:49566 Orphanet:248365 obsolete thrombotic disorder due to an acquired coagulation factors defect -MONDO:0018855 keratosis pilaris atrophicans MONDO:0019274 Orphanet:498 Orphanet:79359 obsolete other epidermal disorder -MONDO:0018855 keratosis pilaris atrophicans MONDO:0019275 Orphanet:498 Orphanet:79360 obsolete other genetic epidermal disease -MONDO:0018858 Graham Little-Piccardi-Lassueur syndrome MONDO:0016767 Orphanet:505 Orphanet:254370 obsolete cutaneous lichen planus -MONDO:0018860 microlissencephaly-micromelia syndrome MONDO:0015655 Orphanet:50810 Orphanet:166478 obsolete cerebral malformation with epilepsy -MONDO:0018860 microlissencephaly-micromelia syndrome MONDO:0035863 Orphanet:50810 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0018860 microlissencephaly-micromelia syndrome MONDO:8000032 Orphanet:50810 Orphanet:377789 obsolete malformation syndrome -MONDO:0018861 Zellweger-like syndrome without peroxisomal anomalies MONDO:0016799 Orphanet:50812 Orphanet:254822 obsolete mitochondrial oxidative phosphorylation disorder with no known mechanism -MONDO:0018861 Zellweger-like syndrome without peroxisomal anomalies MONDO:0035862 Orphanet:50812 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome -MONDO:0018865 striate palmoplantar keratoderma MONDO:0017673 Orphanet:50942 Orphanet:307846 obsolete isolated focal palmoplantar keratoderma -MONDO:0018866 Aicardi-Goutieres syndrome MONDO:0015710 Orphanet:51 Orphanet:169361 obsolete immune dysregulation disease with immunodeficiency -MONDO:0018866 Aicardi-Goutieres syndrome MONDO:0018782 Orphanet:51 Orphanet:477647 obsolete type 1 interferonopathy -MONDO:0018866 Aicardi-Goutieres syndrome MONDO:0018792 Orphanet:51 Orphanet:477771 obsolete Moyamoya syndrome -MONDO:0018866 Aicardi-Goutieres syndrome MONDO:0035862 Orphanet:51 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome -MONDO:0018868 metachromatic leukodystrophy MONDO:0016133 Orphanet:512 Orphanet:207018 obsolete rare hereditary metabolic disease with peripheral neuropathy -MONDO:0018868 metachromatic leukodystrophy MONDO:0018299 Orphanet:512 Orphanet:371442 obsolete sphingolipidosis with epilepsy -MONDO:0018868 metachromatic leukodystrophy MONDO:0018609 Orphanet:512 Orphanet:441434 obsolete syndromic hereditary optic neuropathy -MONDO:0018868 metachromatic leukodystrophy MONDO:0019058 Orphanet:512 Orphanet:68385 obsolete neurometabolic disease -MONDO:0018868 metachromatic leukodystrophy MONDO:0020142 Orphanet:512 Orphanet:98543 obsolete metabolic disease with dementia -MONDO:0018870 arterial calcification of infancy MONDO:0016517 Orphanet:51608 Orphanet:233655 obsolete rare genetic vascular disease -MONDO:0018875 Li-Fraumeni syndrome MONDO:0016756 Orphanet:524 Orphanet:252190 obsolete inherited nervous system cancer-predisposing syndrome -MONDO:0018875 Li-Fraumeni syndrome MONDO:0017820 Orphanet:524 Orphanet:314749 obsolete obsolete disease with Cushing syndrome as a major feature -MONDO:0018878 branchiootic syndrome MONDO:0019589 Orphanet:52429 Orphanet:90642 obsolete syndromic genetic hearing loss -MONDO:0018878 branchiootic syndrome MONDO:0043008 Orphanet:52429 Orphanet:330206 obsolete genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability -MONDO:0018878 branchiootic syndrome MONDO:8000032 Orphanet:52429 Orphanet:377789 obsolete malformation syndrome -MONDO:0018879 lichen planopilaris MONDO:0016767 Orphanet:525 Orphanet:254370 obsolete cutaneous lichen planus -MONDO:0018880 obsolete rare teratologic disease MONDO:0019755 Orphanet:52662 Orphanet:93890 developmental defect during embryogenesis -MONDO:0018882 vasculitis MONDO:0019048 Orphanet:52759 Orphanet:68362 obsolete rare vascular disease -MONDO:0018882 vasculitis MONDO:0037860 Orphanet:52759 Orphanet:98023 obsolete rare systemic or rheumatologic disease -MONDO:0018883 Berardinelli-Seip congenital lipodystrophy MONDO:0015885 Orphanet:528 Orphanet:181368 obsolete rare insulin-resistance syndrome -MONDO:0018883 Berardinelli-Seip congenital lipodystrophy MONDO:0031689 Orphanet:528 Orphanet:363245 obsolete genetic progeroid syndrome -MONDO:0018883 Berardinelli-Seip congenital lipodystrophy MONDO:0035863 Orphanet:528 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0018884 Roch-Leri mesosomatous lipomatosis MONDO:0015949 Orphanet:529 Orphanet:183484 obsolete rare genetic subcutaneous tissue disorder -MONDO:0018885 orbital leiomyoma MONDO:0015121 Orphanet:52994 Orphanet:101950 obsolete rare eye tumor -MONDO:0018887 obsolete rare cutaneous lupus erythematosus MONDO:0017841 Orphanet:535 Orphanet:315350 obsolete autoimmune disease with skin involvement -MONDO:0018888 obsolete congenital cornea plana MONDO:0020145 Orphanet:53691 Orphanet:98553 obsolete developmental defect of the eye -MONDO:0018888 obsolete congenital cornea plana MONDO:0020209 Orphanet:53691 Orphanet:98621 obsolete rare hyperopia and astigmatism -MONDO:0018888 obsolete congenital cornea plana MONDO:0026186 Orphanet:53691 Orphanet:183557 obsolete genetic developmental defect of the eye -MONDO:0018888 obsolete congenital cornea plana MONDO:8000030 Orphanet:53691 Orphanet:377791 obsolete morphological anomaly -MONDO:0018890 Lyell syndrome MONDO:8000031 Orphanet:537 Orphanet:557494 obsolete subtype of a disorder -MONDO:0018891 familial tumoral calcinosis MONDO:0015936 Orphanet:53715 Orphanet:182130 obsolete rare tumor of endocrine glands -MONDO:0018891 familial tumoral calcinosis MONDO:0015950 Orphanet:53715 Orphanet:183487 obsolete inherited skin tumor -MONDO:0018891 familial tumoral calcinosis MONDO:0015970 Orphanet:53715 Orphanet:183634 obsolete rare genetic parathyroid disease and phosphocalcic metabolism disorder -MONDO:0018891 familial tumoral calcinosis MONDO:0019061 Orphanet:53715 Orphanet:68415 obsolete rare parathyroid disease and phosphocalcic metabolism anomaly -MONDO:0018891 familial tumoral calcinosis MONDO:0019300 Orphanet:53715 Orphanet:79386 obsolete rare skin tumor or hamartoma -MONDO:0018891 familial tumoral calcinosis MONDO:0800092 Orphanet:53715 Orphanet:498445 obsolete hereditary inflammatory or rheumatoid-like osteoarthropathy -MONDO:0018892 Wyburn-Mason syndrome MONDO:8000032 Orphanet:53719 Orphanet:377789 obsolete malformation syndrome -MONDO:0018893 Cobb syndrome MONDO:0015145 Orphanet:53721 Orphanet:102006 obsolete neurovascular malformation -MONDO:0018893 Cobb syndrome MONDO:0016234 Orphanet:53721 Orphanet:211266 obsolete rare arteriovenous malformation -MONDO:0018893 Cobb syndrome MONDO:8000032 Orphanet:53721 Orphanet:377789 obsolete malformation syndrome -MONDO:0018895 Plummer-Vinson syndrome MONDO:0015111 Orphanet:54028 Orphanet:101936 obsolete gastroesophageal disease -MONDO:0018896 thrombotic thrombocytopenic purpura MONDO:0016635 Orphanet:54057 Orphanet:248368 obsolete thrombotic disorder due to a platelet anomaly -MONDO:0018898 primary cutaneous lymphoma MONDO:0019300 Orphanet:542 Orphanet:79386 obsolete rare skin tumor or hamartoma -MONDO:0018899 posterior cortical atrophy MONDO:0015918 Orphanet:54247 Orphanet:182070 obsolete rare neurodegenerative disease -MONDO:0018899 posterior cortical atrophy MONDO:0019515 Orphanet:54247 Orphanet:89043 obsolete rare dementia -MONDO:0018900 corticosteroid-sensitive aseptic abscess syndrome MONDO:0019546 Orphanet:54251 Orphanet:90077 obsolete other acquired skin disease -MONDO:0018901 left ventricular noncompaction MONDO:0016343 Orphanet:54260 Orphanet:217678 obsolete unclassified cardiomyopathy -MONDO:0018901 left ventricular noncompaction MONDO:0018797 Orphanet:54260 Orphanet:477805 obsolete genetic cardiac malformation -MONDO:0018901 left ventricular noncompaction MONDO:0029810 Orphanet:54260 Orphanet:300755 obsolete laminopathy with striated muscle involvement -MONDO:0018902 hepatocellular adenoma MONDO:0017632 Orphanet:54272 Orphanet:306636 obsolete rare tumor of liver and intrahepatic biliary tract -MONDO:0018903 sarcocystosis MONDO:0015577 Orphanet:54368 Orphanet:163588 obsolete rare parasitic disease -MONDO:0018904 primary membranoproliferative glomerulonephritis MONDO:0026192 Orphanet:54370 Orphanet:183586 obsolete genetic glomerular disease -MONDO:0018907 craniopharyngioma MONDO:0019590 Orphanet:54595 Orphanet:90692 obsolete rare endocrine growth disease -MONDO:0018907 craniopharyngioma MONDO:0019833 Orphanet:54595 Orphanet:95503 obsolete pituitary hormone deficiency from tumoral origin -MONDO:0018907 craniopharyngioma MONDO:0020036 Orphanet:54595 Orphanet:98062 obsolete rare nervous system tumor -MONDO:0018910 oculocutaneous albinism MONDO:0020275 Orphanet:55 Orphanet:98706 obsolete oculocutaneous or ocular albinism -MONDO:0018911 maturity-onset diabetes of the young MONDO:0015887 Orphanet:552 Orphanet:181376 obsolete rare diabetes mellitus type 2 -MONDO:0018913 malakoplakia MONDO:0015245 Orphanet:556 Orphanet:117569 obsolete rare intestinal disease -MONDO:0018914 hypotrichosis simplex MONDO:0021034 Orphanet:55654 Orphanet:481771 obsolete hereditary alopecia -MONDO:0018916 obsolete isolated anorectal malformation MONDO:0019938 Orphanet:557 Orphanet:96346 anorectal malformation -MONDO:0018918 carcinoma of gallbladder and extrahepatic biliary tract MONDO:0017631 Orphanet:56044 Orphanet:306633 obsolete rare tumor of gallbladder and extrahepatic biliary tract -MONDO:0018919 McCune-Albright syndrome MONDO:0015945 Orphanet:562 Orphanet:183422 obsolete polymalformative genetic syndrome with increased risk of developing cancer -MONDO:0018919 McCune-Albright syndrome MONDO:0017820 Orphanet:562 Orphanet:314749 obsolete obsolete disease with Cushing syndrome as a major feature -MONDO:0018919 McCune-Albright syndrome MONDO:0033331 Orphanet:562 Orphanet:435564 obsolete genetic precocious puberty in female -MONDO:0018919 McCune-Albright syndrome MONDO:0035682 Orphanet:562 Orphanet:595216 obsolete fibrous dysplasia/McCune-Albright syndrome -MONDO:0018920 peripartum cardiomyopathy MONDO:0015582 Orphanet:563 Orphanet:163637 obsolete rare disorder related with pregnancy, childbirth and puerperium -MONDO:0018921 Meckel syndrome MONDO:0015214 Orphanet:564 Orphanet:108973 obsolete syndromic visceral malformation -MONDO:0018921 Meckel syndrome MONDO:0015335 Orphanet:564 Orphanet:139039 obsolete Mendelian syndromes with cleft lip/palate -MONDO:0018921 Meckel syndrome MONDO:0017120 Orphanet:564 Orphanet:269531 obsolete other syndrome with a central nervous system malformation as major feature -MONDO:0018921 Meckel syndrome MONDO:0017434 Orphanet:564 Orphanet:294959 obsolete syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy -MONDO:0018921 Meckel syndrome MONDO:0018731 Orphanet:564 Orphanet:459787 obsolete lethal multiple congenital anomalies/dysmorphic syndrome -MONDO:0018921 Meckel syndrome MONDO:0019721 Orphanet:564 Orphanet:93547 obsolete syndromic renal or urinary tract malformation -MONDO:0018921 Meckel syndrome MONDO:0020225 Orphanet:564 Orphanet:98641 obsolete syndromic cataract -MONDO:0018921 Meckel syndrome MONDO:0020237 Orphanet:564 Orphanet:98655 obsolete lens shape anomaly -MONDO:0018921 Meckel syndrome MONDO:0022409 Orphanet:564 Orphanet:156162 obsolete nephropathy-associated ciliopathy -MONDO:0018921 Meckel syndrome MONDO:8000032 Orphanet:564 Orphanet:377789 obsolete malformation syndrome -MONDO:0018923 22q11.2 deletion syndrome MONDO:0015246 Orphanet:567 Orphanet:117573 obsolete syndromic anorectal malformation -MONDO:0018923 22q11.2 deletion syndrome MONDO:0015334 Orphanet:567 Orphanet:139036 obsolete branchial arch or oral-acral syndrome -MONDO:0018923 22q11.2 deletion syndrome MONDO:0015506 Orphanet:567 Orphanet:156532 obsolete rare syndrome with cardiac malformations -MONDO:0018923 22q11.2 deletion syndrome MONDO:0015895 Orphanet:567 Orphanet:181402 obsolete syndrome with hypoparathyroidism -MONDO:0018923 22q11.2 deletion syndrome MONDO:0018036 Orphanet:567 Orphanet:331220 obsolete immunodeficiency due to absence of thymus -MONDO:0018923 22q11.2 deletion syndrome MONDO:0019589 Orphanet:567 Orphanet:90642 obsolete syndromic genetic hearing loss -MONDO:0018923 22q11.2 deletion syndrome MONDO:0019721 Orphanet:567 Orphanet:93547 obsolete syndromic renal or urinary tract malformation -MONDO:0018923 22q11.2 deletion syndrome MONDO:0020016 Orphanet:567 Orphanet:98033 obsolete rare neurologic disease with psychiatric involvement -MONDO:0018923 22q11.2 deletion syndrome MONDO:0024147 Orphanet:567 Orphanet:138047 obsolete Pierre Robin syndrome associated with a chromosomal anomaly -MONDO:0018923 22q11.2 deletion syndrome MONDO:0035863 Orphanet:567 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0018923 22q11.2 deletion syndrome MONDO:8000032 Orphanet:567 Orphanet:377789 obsolete malformation syndrome -MONDO:0018924 microphthalmia, Lenz type MONDO:0020237 Orphanet:568 Orphanet:98655 obsolete lens shape anomaly -MONDO:0018924 microphthalmia, Lenz type MONDO:0035863 Orphanet:568 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0018924 microphthalmia, Lenz type MONDO:8000032 Orphanet:568 Orphanet:377789 obsolete malformation syndrome -MONDO:0018925 familial or sporadic hemiplegic migraine MONDO:0015953 Orphanet:569 Orphanet:183503 obsolete genetic central nervous system and retinal vascular disease -MONDO:0018925 familial or sporadic hemiplegic migraine MONDO:0015954 Orphanet:569 Orphanet:183509 obsolete rare genetic headache disorder -MONDO:0018925 familial or sporadic hemiplegic migraine MONDO:0019110 Orphanet:569 Orphanet:71281 obsolete rare central nervous system or retinal vascular disease -MONDO:0018925 familial or sporadic hemiplegic migraine MONDO:0020011 Orphanet:569 Orphanet:98022 obsolete rare headache disorder -MONDO:0018926 human prion disease MONDO:0020136 Orphanet:56970 Orphanet:98534 obsolete neurodegenerative disease with dementia -MONDO:0018928 obsolete rare hepatic disease MONDO:8000033 Orphanet:57146 Orphanet:557492 obsolete group of disorders -MONDO:0018930 monosomy 21 MONDO:0020226 Orphanet:574 Orphanet:98642 obsolete chromosomal anomaly with cataract -MONDO:0018930 monosomy 21 MONDO:8000032 Orphanet:574 Orphanet:377789 obsolete malformation syndrome -MONDO:0018931 mucolipidosis type III, alpha/beta MONDO:8000031 Orphanet:423461 Orphanet:557494 obsolete subtype of a disorder -MONDO:0018932 cirrhotic cardiomyopathy MONDO:0015114 Orphanet:57777 Orphanet:101939 obsolete rare parenchymal liver disease -MONDO:0018933 Mazabraud syndrome MONDO:0019099 Orphanet:57782 Orphanet:71209 obsolete rare soft tissue tumor -MONDO:0018933 Mazabraud syndrome MONDO:0800089 Orphanet:57782 Orphanet:93450 obsolete primary bone dysplasia with disorganized development of skeletal components -MONDO:0018933 Mazabraud syndrome MONDO:8000032 Orphanet:57782 Orphanet:377789 obsolete malformation syndrome -MONDO:0018937 mucopolysaccharidosis type 3 MONDO:0016397 Orphanet:581 Orphanet:225681 obsolete lysosomal disease with epilepsy -MONDO:0018937 mucopolysaccharidosis type 3 MONDO:0019058 Orphanet:581 Orphanet:68385 obsolete neurometabolic disease -MONDO:0018937 mucopolysaccharidosis type 3 MONDO:0020228 Orphanet:581 Orphanet:98644 obsolete cataract associated with a metabolic disease -MONDO:0018937 mucopolysaccharidosis type 3 MONDO:0035862 Orphanet:581 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome -MONDO:0018939 muscle-eye-brain disease MONDO:0016157 Orphanet:588 Orphanet:207122 obsolete qualitative or quantitative defects of fukutin -MONDO:0018939 muscle-eye-brain disease MONDO:0016182 Orphanet:588 Orphanet:209024 obsolete qualitative or quantitative defects of protein O-mannose beta1, 2N-acetylglucosaminyltransferase -MONDO:0018939 muscle-eye-brain disease MONDO:0017745 Orphanet:588 Orphanet:309469 obsolete disorder of O-mannosylglycan synthesis -MONDO:0018939 muscle-eye-brain disease MONDO:0018132 Orphanet:588 Orphanet:352687 obsolete congenital muscular alpha-dystroglycanopathy with brain and eye anomalies -MONDO:0018939 muscle-eye-brain disease MONDO:0018287 Orphanet:588 Orphanet:371071 obsolete congenital disorder of glycosylation with epilepsy as a major feature -MONDO:0018939 muscle-eye-brain disease MONDO:0018296 Orphanet:588 Orphanet:371235 obsolete congenital disorder of glycosylation with developmental anomaly -MONDO:0018939 muscle-eye-brain disease MONDO:0020222 Orphanet:588 Orphanet:98638 obsolete rare disease with glaucoma as a major feature -MONDO:0018939 muscle-eye-brain disease MONDO:0020228 Orphanet:588 Orphanet:98644 obsolete cataract associated with a metabolic disease -MONDO:0018939 muscle-eye-brain disease MONDO:0020253 Orphanet:588 Orphanet:98683 obsolete syndrome with a symptomatic strabismus -MONDO:0018939 muscle-eye-brain disease MONDO:8000032 Orphanet:588 Orphanet:377789 obsolete malformation syndrome -MONDO:0018940 congenital myasthenic syndrome MONDO:0020169 Orphanet:590 Orphanet:98578 obsolete rare disorder with ptosis -MONDO:0018943 myofibrillar myopathy MONDO:0016110 Orphanet:593 Orphanet:206656 obsolete non-dystrophic myopathy -MONDO:0018944 gestational trophoblastic neoplasm MONDO:0016784 Orphanet:59305 Orphanet:254685 obsolete gestational trophoblastic disease -MONDO:0018945 McLeod neuroacanthocytosis syndrome MONDO:0016337 Orphanet:59306 Orphanet:217619 obsolete syndrome associated with dilated cardiomyopathy -MONDO:0018945 McLeod neuroacanthocytosis syndrome MONDO:0016406 Orphanet:59306 Orphanet:225713 obsolete other metabolic disease with epilepsy -MONDO:0018945 McLeod neuroacanthocytosis syndrome MONDO:0019058 Orphanet:59306 Orphanet:68385 obsolete neurometabolic disease -MONDO:0018945 McLeod neuroacanthocytosis syndrome MONDO:0020103 Orphanet:59306 Orphanet:98366 obsolete constitutional hemolytic anemia due to acanthocytosis -MONDO:0018946 rhombencephalosynapsis MONDO:0015915 Orphanet:59315 Orphanet:182061 obsolete cerebellar malformation -MONDO:0018946 rhombencephalosynapsis MONDO:8000032 Orphanet:59315 Orphanet:377789 obsolete malformation syndrome -MONDO:0018948 multiminicore myopathy MONDO:0015765 Orphanet:598 Orphanet:172976 obsolete congenital myopathy with cores -MONDO:0018948 multiminicore myopathy MONDO:0018753 Orphanet:598 Orphanet:466658 obsolete rare disease with malignant hyperthermia -MONDO:0018952 argyria MONDO:0035328 Orphanet:60014 Orphanet:556508 obsolete rare disorder due to poisoning -MONDO:0018953 parietal foramina MONDO:0019709 Orphanet:60015 Orphanet:93451 obsolete cleidocranial dysplasia and isolated cranial ossification defect -MONDO:0018953 parietal foramina MONDO:0020018 Orphanet:60015 Orphanet:98038 obsolete cranial malformation -MONDO:0018953 parietal foramina MONDO:0026182 Orphanet:60015 Orphanet:183542 obsolete genetic cranial malformation -MONDO:0018953 parietal foramina MONDO:8000032 Orphanet:60015 Orphanet:377789 obsolete malformation syndrome -MONDO:0018954 Loeys-Dietz syndrome MONDO:0017311 Orphanet:60030 Orphanet:285014 obsolete rare disease with thoracic aortic aneurysm and aortic dissection -MONDO:0018954 Loeys-Dietz syndrome MONDO:0800091 Orphanet:60030 Orphanet:498448 obsolete overgrowth or tall stature syndrome with skeletal involvement -MONDO:0018954 Loeys-Dietz syndrome MONDO:8000032 Orphanet:60030 Orphanet:377789 obsolete malformation syndrome -MONDO:0018955 recurrent respiratory papillomatosis MONDO:0015118 Orphanet:60032 Orphanet:101944 obsolete rare pulmonary disease -MONDO:0018955 recurrent respiratory papillomatosis MONDO:0020017 Orphanet:60032 Orphanet:98036 obsolete rare otorhinolaryngologic disease -MONDO:0018956 idiopathic bronchiectasis MONDO:0015118 Orphanet:60033 Orphanet:101944 obsolete rare pulmonary disease -MONDO:0018956 idiopathic bronchiectasis MONDO:0015510 Orphanet:60033 Orphanet:156610 obsolete rare genetic respiratory disease -MONDO:0018958 nemaline myopathy MONDO:0016110 Orphanet:607 Orphanet:206656 obsolete non-dystrophic myopathy -MONDO:0018960 congenital primary megaureter MONDO:0015934 Orphanet:617 Orphanet:182124 obsolete non-syndromic urogenital tract malformation of male and female -MONDO:0018960 congenital primary megaureter MONDO:0019720 Orphanet:617 Orphanet:93546 obsolete non-syndromic renal or urinary tract malformation -MONDO:0018960 congenital primary megaureter MONDO:8000030 Orphanet:617 Orphanet:377791 obsolete morphological anomaly -MONDO:0018961 familial melanoma MONDO:0015950 Orphanet:618 Orphanet:183487 obsolete inherited skin tumor -MONDO:0018961 familial melanoma MONDO:0019300 Orphanet:618 Orphanet:79386 obsolete rare skin tumor or hamartoma -MONDO:0018963 hereditary methemoglobinemia MONDO:0034039 Orphanet:621 Orphanet:466066 obsolete genetic hemoglobinopathy -MONDO:0018963 hereditary methemoglobinemia MONDO:0035862 Orphanet:621 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome -MONDO:0018964 homocystinuria without methylmalonic aciduria MONDO:0019058 Orphanet:622 Orphanet:68385 obsolete neurometabolic disease -MONDO:0018964 homocystinuria without methylmalonic aciduria MONDO:0020109 Orphanet:622 Orphanet:98396 obsolete constitutional megaloblastic anemia due to vitamin B12 metabolism disorder -MONDO:0018965 Alport syndrome MONDO:0019589 Orphanet:63 Orphanet:90642 obsolete syndromic genetic hearing loss -MONDO:0018965 Alport syndrome MONDO:0020230 Orphanet:63 Orphanet:98646 obsolete renal disease with cataract -MONDO:0018965 Alport syndrome MONDO:0020237 Orphanet:63 Orphanet:98655 obsolete lens shape anomaly -MONDO:0018968 iniencephaly MONDO:0017085 Orphanet:63259 Orphanet:268843 obsolete malformation of the neurenteric canal, spinal cord and column -MONDO:0018968 iniencephaly MONDO:8000030 Orphanet:63259 Orphanet:377791 obsolete morphological anomaly -MONDO:0018969 craniorachischisis MONDO:0017085 Orphanet:63260 Orphanet:268843 obsolete malformation of the neurenteric canal, spinal cord and column -MONDO:0018969 craniorachischisis MONDO:8000030 Orphanet:63260 Orphanet:377791 obsolete morphological anomaly -MONDO:0018972 obsolete rare epithelial tumor of stomach MONDO:0015881 Orphanet:63443 Orphanet:180821 obsolete gastroesophageal tumor -MONDO:0018975 neurofibromatosis type 1 MONDO:0015121 Orphanet:636 Orphanet:101950 obsolete rare eye tumor -MONDO:0018975 neurofibromatosis type 1 MONDO:0015512 Orphanet:636 Orphanet:156629 obsolete genetic hypertension -MONDO:0018975 neurofibromatosis type 1 MONDO:0015651 Orphanet:636 Orphanet:166466 obsolete neurocutaneous syndrome with epilepsy -MONDO:0018975 neurofibromatosis type 1 MONDO:0015950 Orphanet:636 Orphanet:183487 obsolete inherited skin tumor -MONDO:0018975 neurofibromatosis type 1 MONDO:0015966 Orphanet:636 Orphanet:183619 obsolete hereditary eye tumor -MONDO:0018975 neurofibromatosis type 1 MONDO:0018792 Orphanet:636 Orphanet:477771 obsolete Moyamoya syndrome -MONDO:0018975 neurofibromatosis type 1 MONDO:0019300 Orphanet:636 Orphanet:79386 obsolete rare skin tumor or hamartoma -MONDO:0018975 neurofibromatosis type 1 MONDO:0800089 Orphanet:636 Orphanet:93450 obsolete primary bone dysplasia with disorganized development of skeletal components -MONDO:0018976 schisis association MONDO:0017120 Orphanet:63862 Orphanet:269531 obsolete other syndrome with a central nervous system malformation as major feature -MONDO:0018976 schisis association MONDO:8000032 Orphanet:63862 Orphanet:377789 obsolete malformation syndrome -MONDO:0018977 polyneuropathy associated with IgM monoclonal gammapathy with anti-MAG MONDO:0015916 Orphanet:639 Orphanet:182064 obsolete rare neuroinflammatory or neuroimmunological disease -MONDO:0018977 polyneuropathy associated with IgM monoclonal gammapathy with anti-MAG MONDO:0016169 Orphanet:639 Orphanet:208974 obsolete chronic acquired demyelinating polyneuropathy -MONDO:0018977 polyneuropathy associated with IgM monoclonal gammapathy with anti-MAG MONDO:0016178 Orphanet:639 Orphanet:209010 obsolete peripheral neuropathy associated with monoclonal gammopathy -MONDO:0018978 IgG4-related mediastinitis MONDO:0020000 Orphanet:63999 Orphanet:97955 obsolete rare respiratory disease -MONDO:0018978 IgG4-related mediastinitis MONDO:8000031 Orphanet:63999 Orphanet:557494 obsolete subtype of a disorder -MONDO:0018979 multifocal motor neuropathy MONDO:0016169 Orphanet:641 Orphanet:208974 obsolete chronic acquired demyelinating polyneuropathy -MONDO:0018980 acrofacial dysostosis, Kennedy-Teebi type MONDO:0015334 Orphanet:64542 Orphanet:139036 obsolete branchial arch or oral-acral syndrome -MONDO:0018980 acrofacial dysostosis, Kennedy-Teebi type MONDO:0026189 Orphanet:64542 Orphanet:183576 obsolete genetic branchial arch or oral-acral syndrome -MONDO:0018980 acrofacial dysostosis, Kennedy-Teebi type MONDO:8000032 Orphanet:64542 Orphanet:377789 obsolete malformation syndrome -MONDO:0018982 Niemann-Pick disease type C MONDO:0015918 Orphanet:646 Orphanet:182070 obsolete rare neurodegenerative disease -MONDO:0018982 Niemann-Pick disease type C MONDO:0017037 Orphanet:646 Orphanet:264968 obsolete secondary interstitial lung disease in childhood and adulthood associated with a metabolic disease -MONDO:0018982 Niemann-Pick disease type C MONDO:0018299 Orphanet:646 Orphanet:371442 obsolete sphingolipidosis with epilepsy -MONDO:0018982 Niemann-Pick disease type C MONDO:0019058 Orphanet:646 Orphanet:68385 obsolete neurometabolic disease -MONDO:0018983 Tolosa-Hunt syndrome MONDO:0034965 Orphanet:64686 Orphanet:519349 obsolete rare ophthalmic disorder with cranial nerve involvement -MONDO:0018984 Oroya fever MONDO:0015575 Orphanet:64692 Orphanet:163582 obsolete rare bacterial infectious disease -MONDO:0018987 granulomatous mastitis MONDO:0015858 Orphanet:64722 Orphanet:180202 obsolete rare non-malformative breast disease -MONDO:0018988 iridocorneal endothelial syndrome MONDO:0020216 Orphanet:64734 Orphanet:98631 obsolete secondary dysgenetic glaucoma -MONDO:0018991 hepatoportal sclerosis MONDO:8000031 Orphanet:64743 Orphanet:557494 obsolete subtype of a disorder -MONDO:0018992 IgG4-related thyroid disease MONDO:0015777 Orphanet:64744 Orphanet:177101 obsolete adult hypothyroidism -MONDO:0018992 IgG4-related thyroid disease MONDO:8000031 Orphanet:64744 Orphanet:557494 obsolete subtype of a disorder -MONDO:0018993 Charcot-Marie-Tooth disease type 2 MONDO:0015360 Orphanet:64746 Orphanet:140456 obsolete autosomal dominant hereditary axonal motor and sensory neuropathy -MONDO:0018994 Charcot-Marie-Tooth disease type X MONDO:0019589 Orphanet:64747 Orphanet:90642 obsolete syndromic genetic hearing loss -MONDO:0018994 Charcot-Marie-Tooth disease type X MONDO:0035862 Orphanet:64747 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome -MONDO:0018995 Charcot-Marie-Tooth disease type 4 MONDO:0015361 Orphanet:64749 Orphanet:140459 obsolete autosomal recessive hereditary demyelinating motor and sensory neuropathy -MONDO:0018996 spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 MONDO:0020045 Orphanet:64753 Orphanet:98097 obsolete autosomal recessive cerebellar ataxia due to a DNA repair defect -MONDO:0018996 spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 MONDO:0034961 Orphanet:64753 Orphanet:519341 obsolete rare brainstem or cerebellar disorder with ophthalmic involvement as a major feature -MONDO:0018997 Noonan syndrome MONDO:0015906 Orphanet:648 Orphanet:181441 obsolete rare disorder with hypergonadotropic hypogonadism -MONDO:0018997 Noonan syndrome MONDO:0015945 Orphanet:648 Orphanet:183422 obsolete polymalformative genetic syndrome with increased risk of developing cancer -MONDO:0018997 Noonan syndrome MONDO:0018792 Orphanet:648 Orphanet:477771 obsolete Moyamoya syndrome -MONDO:0018997 Noonan syndrome MONDO:0019721 Orphanet:648 Orphanet:93547 obsolete syndromic renal or urinary tract malformation -MONDO:0018997 Noonan syndrome MONDO:0020167 Orphanet:648 Orphanet:98576 obsolete malposition of external canthus -MONDO:0018997 Noonan syndrome MONDO:0020169 Orphanet:648 Orphanet:98578 obsolete rare disorder with ptosis -MONDO:0018997 Noonan syndrome MONDO:0026989 Orphanet:648 Orphanet:217595 obsolete syndrome associated with hypertrophic cardiomyopathy -MONDO:0018997 Noonan syndrome MONDO:0035471 Orphanet:648 Orphanet:568047 obsolete disorder with multisystemic involvement and primary lymphedema -MONDO:0018997 Noonan syndrome MONDO:0035863 Orphanet:648 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0018997 Noonan syndrome MONDO:8000032 Orphanet:648 Orphanet:377789 obsolete malformation syndrome -MONDO:0018998 Leber congenital amaurosis MONDO:0020210 Orphanet:65 Orphanet:98622 obsolete syndromic hyperopia -MONDO:0018998 Leber congenital amaurosis MONDO:0020225 Orphanet:65 Orphanet:98641 obsolete syndromic cataract -MONDO:0018998 Leber congenital amaurosis MONDO:0022400 Orphanet:65 Orphanet:156174 obsolete retinal ciliopathy due to mutation in the RPGRIP gene -MONDO:0018998 Leber congenital amaurosis MONDO:0035862 Orphanet:65 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome -MONDO:0018999 LCAT deficiency MONDO:0019743 Orphanet:650 Orphanet:93593 obsolete nephropathy secondary to a storage or other metabolic disease -MONDO:0018999 LCAT deficiency MONDO:0020215 Orphanet:650 Orphanet:98628 obsolete syndromic corneal dystrophy -MONDO:0019000 perineural cyst MONDO:0020009 Orphanet:65250 Orphanet:98006 obsolete rare neurologic disease -MONDO:0019002 Lhermitte-Duclos disease MONDO:0017118 Orphanet:65285 Orphanet:269523 obsolete syndrome with a cerebellar malformation as major feature -MONDO:0019003 multiple endocrine neoplasia type 2 MONDO:0018538 Orphanet:653 Orphanet:425003 obsolete inherited digestive cancer-predisposing syndrome -MONDO:0019004 kidney Wilms tumor MONDO:0015963 Orphanet:654 Orphanet:183595 obsolete inherited renal tumor -MONDO:0019004 kidney Wilms tumor MONDO:0019749 Orphanet:654 Orphanet:93619 obsolete rare renal tumor -MONDO:0019005 nephronophthisis MONDO:0022405 Orphanet:655 Orphanet:156180 obsolete retinal ciliopathy due to mutation in nephronophthisis gene -MONDO:0019005 nephronophthisis MONDO:0022409 Orphanet:655 Orphanet:156162 obsolete nephropathy-associated ciliopathy -MONDO:0019007 vaginal atresia MONDO:0015847 Orphanet:65681 Orphanet:180151 obsolete rare vaginal malformation -MONDO:0019007 vaginal atresia MONDO:8000030 Orphanet:65681 Orphanet:377791 obsolete morphological anomaly -MONDO:0019011 Charcot-Marie-Tooth disease type 1 MONDO:0015359 Orphanet:65753 Orphanet:140453 obsolete autosomal dominant hereditary demyelinating motor and sensory neuropathy -MONDO:0019012 Carpenter syndrome MONDO:0016565 Orphanet:65759 Orphanet:240371 obsolete syndromic genetic obesity -MONDO:0019012 Carpenter syndrome MONDO:0035863 Orphanet:65759 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0019012 Carpenter syndrome MONDO:8000032 Orphanet:65759 Orphanet:377789 obsolete malformation syndrome -MONDO:0019013 non-histaminic angioedema MONDO:0020027 Orphanet:658 Orphanet:98050 obsolete rare allergic disease -MONDO:0019013 non-histaminic angioedema MONDO:0037860 Orphanet:658 Orphanet:98023 obsolete rare systemic or rheumatologic disease -MONDO:0019015 omphalocele MONDO:0015215 Orphanet:660 Orphanet:108977 obsolete non-syndromic diaphragmatic or abdominal wall malformation -MONDO:0019015 omphalocele MONDO:8000030 Orphanet:660 Orphanet:377791 obsolete morphological anomaly -MONDO:0019016 maternally-inherited progressive external ophthalmoplegia MONDO:0016792 Orphanet:663 Orphanet:254767 obsolete mitochondrial oxidative phosphorylation disorder due to a large-scale single deletion of mitochondrial DNA -MONDO:0019016 maternally-inherited progressive external ophthalmoplegia MONDO:0019058 Orphanet:663 Orphanet:68385 obsolete neurometabolic disease -MONDO:0019016 maternally-inherited progressive external ophthalmoplegia MONDO:0020169 Orphanet:663 Orphanet:98578 obsolete rare disorder with ptosis -MONDO:0019017 short fifth metacarpals-insulin resistance syndrome MONDO:0015885 Orphanet:66518 Orphanet:181368 obsolete rare insulin-resistance syndrome -MONDO:0019018 Tako-tsubo cardiomyopathy MONDO:0016343 Orphanet:66529 Orphanet:217678 obsolete unclassified cardiomyopathy -MONDO:0019019 osteogenesis imperfecta MONDO:0019704 Orphanet:666 Orphanet:93446 obsolete primary bone dysplasia with decreased bone density -MONDO:0019020 PANDAS MONDO:0017647 Orphanet:66624 Orphanet:306727 obsolete postinfectious autoimmune disease with chorea -MONDO:0019022 sensorineural hearing loss-early graying-essential tremor syndrome MONDO:0017644 Orphanet:66633 Orphanet:306712 obsolete rare tremor disorder -MONDO:0019022 sensorineural hearing loss-early graying-essential tremor syndrome MONDO:0017663 Orphanet:66633 Orphanet:307061 obsolete inherited tremor disorder -MONDO:0019022 sensorineural hearing loss-early graying-essential tremor syndrome MONDO:0019589 Orphanet:66633 Orphanet:90642 obsolete syndromic genetic hearing loss -MONDO:0019023 cutaneous mastocytosis MONDO:0019546 Orphanet:66646 Orphanet:90077 obsolete other acquired skin disease -MONDO:0019026 autosomal recessive osteopetrosis MONDO:8000032 Orphanet:667 Orphanet:377789 obsolete malformation syndrome -MONDO:0019028 amoebiasis due to Entamoeba histolytica MONDO:0015577 Orphanet:67 Orphanet:163588 obsolete rare parasitic disease -MONDO:0019029 segmental odontomaxillary dysplasia MONDO:0015603 Orphanet:67039 Orphanet:164001 obsolete rare odontal or periodontal disorder -MONDO:0019031 thrombocytopenia with congenital dyserythropoietic anemia MONDO:0016361 Orphanet:67044 Orphanet:220452 obsolete isolated hereditary giant platelet disorder -MONDO:0019032 X-linked intellectual disability with isolated growth hormone deficiency MONDO:0035862 Orphanet:67045 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome -MONDO:0019034 accessory pancreas MONDO:0015213 Orphanet:674 Orphanet:108971 obsolete non-syndromic visceral malformation -MONDO:0019034 accessory pancreas MONDO:8000030 Orphanet:674 Orphanet:377791 obsolete morphological anomaly -MONDO:0019035 pancreatoblastoma MONDO:0018520 Orphanet:677 Orphanet:424033 obsolete rare epithelial tumor of pancreas -MONDO:0019036 amoebiasis due to free-living amoebae MONDO:0015577 Orphanet:68 Orphanet:163588 obsolete rare parasitic disease -MONDO:0019037 progressive supranuclear palsy MONDO:0017643 Orphanet:683 Orphanet:306708 obsolete frontotemporal neurodegeneration with movement disorder -MONDO:0019037 progressive supranuclear palsy MONDO:0020137 Orphanet:683 Orphanet:98535 obsolete frontotemporal degeneration with dementia -MONDO:0019037 progressive supranuclear palsy MONDO:0028868 Orphanet:683 Orphanet:276061 obsolete genetic frontotemporal degeneration with dementia -MONDO:0019038 obsolete rare maxillo-facial surgical disease MONDO:8000033 Orphanet:68329 Orphanet:557492 obsolete group of disorders -MONDO:0019039 obsolete rare hemorrhagic disorder due to a constitutional coagulation factors defect MONDO:0016628 Orphanet:68334 Orphanet:248315 obsolete hemorrhagic disorder due to a coagulation factors defect -MONDO:0019039 obsolete rare hemorrhagic disorder due to a constitutional coagulation factors defect MONDO:0021181 Orphanet:68334 Orphanet:183654 inherited blood coagulation disorder -MONDO:0019040 chromosomal disorder MONDO:0021198 Orphanet:68335 Orphanet:98053 obsolete rare genetic disease -MONDO:0019041 obsolete rare genetic inherited tumor MONDO:0021198 Orphanet:68336 Orphanet:98053 obsolete rare genetic disease -MONDO:0019043 obsolete rare genetic skin disease MONDO:0021198 Orphanet:68346 Orphanet:98053 obsolete rare genetic disease -MONDO:0019044 obsolete tumor of hematopoietic and lymphoid tissues MONDO:0005570 Orphanet:68347 Orphanet:97992 hematologic disorder -MONDO:0019044 obsolete tumor of hematopoietic and lymphoid tissues MONDO:0020031 Orphanet:68347 Orphanet:98057 obsolete rare tumor -MONDO:0019045 obsolete rare sleep disorder MONDO:0020009 Orphanet:68354 Orphanet:98006 obsolete rare neurologic disease -MONDO:0019046 leukodystrophy MONDO:0019117 Orphanet:68356 Orphanet:71859 obsolete genetic nervous system disorder -MONDO:0019046 leukodystrophy MONDO:0020009 Orphanet:68356 Orphanet:98006 obsolete rare neurologic disease -MONDO:0019047 obsolete rare deafness MONDO:0020017 Orphanet:68361 Orphanet:98036 obsolete rare otorhinolaryngologic disease -MONDO:0019048 obsolete rare vascular disease MONDO:0020015 Orphanet:68362 Orphanet:98028 obsolete rare circulatory system disease -MONDO:0019049 obsolete rare dystonia MONDO:0044636 Orphanet:68363 Orphanet:494457 obsolete rare hyperkinetic movement disorder -MONDO:0019050 inherited hemoglobinopathy MONDO:0015223 Orphanet:68364 Orphanet:108997 obsolete rare anemia -MONDO:0019052 inborn errors of metabolism MONDO:0021198 Orphanet:68367 Orphanet:98053 obsolete rare genetic disease -MONDO:0019056 neuromuscular disease MONDO:0020009 Orphanet:68381 Orphanet:98006 obsolete rare neurologic disease -MONDO:0019058 obsolete neurometabolic disease MONDO:0019117 Orphanet:68385 Orphanet:71859 obsolete genetic nervous system disorder -MONDO:0019058 obsolete neurometabolic disease MONDO:0020009 Orphanet:68385 Orphanet:98006 obsolete rare neurologic disease -MONDO:0019059 obsolete rare parkinsonian disorder MONDO:0015143 Orphanet:68402 Orphanet:102003 obsolete rare movement disorder -MONDO:0019060 bone neoplasm MONDO:0019684 Orphanet:68411 Orphanet:93419 obsolete rare bone disease -MONDO:0019060 bone neoplasm MONDO:0020031 Orphanet:68411 Orphanet:98057 obsolete rare tumor -MONDO:0019061 obsolete rare parathyroid disease and phosphocalcic metabolism anomaly MONDO:0020005 Orphanet:68415 Orphanet:97978 obsolete rare endocrine disease -MONDO:0019062 obsolete rare infectious disease MONDO:8000033 Orphanet:68416 Orphanet:557492 obsolete group of disorders -MONDO:0019063 obsolete vascular anomaly MONDO:0019755 Orphanet:68419 Orphanet:93890 developmental defect during embryogenesis -MONDO:0019063 obsolete vascular anomaly MONDO:0020015 Orphanet:68419 Orphanet:98028 obsolete rare circulatory system disease -MONDO:0019064 hereditary spastic paraplegia MONDO:0015918 Orphanet:685 Orphanet:182070 obsolete rare neurodegenerative disease -MONDO:0019066 obsolete syndrome with brachydactyly MONDO:0015226 Orphanet:69028 Orphanet:109009 obsolete syndrome with limb malformations as a major feature -MONDO:0019066 obsolete syndrome with brachydactyly MONDO:0018235 Orphanet:69028 Orphanet:364568 obsolete dysostosis with limb anomaly as a major feature -MONDO:0019066 obsolete syndrome with brachydactyly MONDO:0018455 Orphanet:69028 Orphanet:404571 obsolete dysostosis of genetic origin with limb anomaly as a major feature -MONDO:0019067 idiopathic steroid-sensitive nephrotic syndrome MONDO:0032013 Orphanet:69061 Orphanet:377792 obsolete clinical syndrome -MONDO:0019071 pure hair and nail ectodermal dysplasia MONDO:8000032 Orphanet:69084 Orphanet:377789 obsolete malformation syndrome -MONDO:0019075 Bosley-Salih-Alorainy syndrome MONDO:0015506 Orphanet:69737 Orphanet:156532 obsolete rare syndrome with cardiac malformations -MONDO:0019075 Bosley-Salih-Alorainy syndrome MONDO:0019589 Orphanet:69737 Orphanet:90642 obsolete syndromic genetic hearing loss -MONDO:0019075 Bosley-Salih-Alorainy syndrome MONDO:0035863 Orphanet:69737 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0019075 Bosley-Salih-Alorainy syndrome MONDO:8000032 Orphanet:69737 Orphanet:377789 obsolete malformation syndrome -MONDO:0019076 circumscribed palmoplantar hypokeratosis MONDO:0019274 Orphanet:69744 Orphanet:79359 obsolete other epidermal disorder -MONDO:0019077 warty dyskeratoma MONDO:0019274 Orphanet:69745 Orphanet:79359 obsolete other epidermal disorder -MONDO:0019078 Ritscher-Schinzel syndrome MONDO:0017121 Orphanet:7 Orphanet:269546 obsolete syndrome with a Dandy-Walker malformation as major feature -MONDO:0019078 Ritscher-Schinzel syndrome MONDO:0035863 Orphanet:7 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0019078 Ritscher-Schinzel syndrome MONDO:8000032 Orphanet:7 Orphanet:377789 obsolete malformation syndrome -MONDO:0019084 radiation proctitis MONDO:0015245 Orphanet:70475 Orphanet:117569 obsolete rare intestinal disease -MONDO:0019085 vernal keratoconjunctivitis MONDO:0020211 Orphanet:70476 Orphanet:98623 obsolete syndromic keratoconus -MONDO:0019085 vernal keratoconjunctivitis MONDO:0034931 Orphanet:70476 Orphanet:519280 obsolete rare conjunctivitis -MONDO:0019086 carcinoma of esophagus MONDO:0015881 Orphanet:70482 Orphanet:180821 obsolete gastroesophageal tumor -MONDO:0019091 bronchopulmonary dysplasia MONDO:0015221 Orphanet:70589 Orphanet:108993 obsolete non-syndromic respiratory or mediastinal malformation -MONDO:0019091 bronchopulmonary dysplasia MONDO:0015930 Orphanet:70589 Orphanet:182111 obsolete respiratory malformation -MONDO:0019091 bronchopulmonary dysplasia MONDO:8000032 Orphanet:70589 Orphanet:377789 obsolete malformation syndrome -MONDO:0019092 infantile apnea MONDO:0015118 Orphanet:70590 Orphanet:101944 obsolete rare pulmonary disease -MONDO:0019093 immunodeficiency due to selective anti-polysaccharide antibody deficiency MONDO:0015711 Orphanet:70593 Orphanet:169443 obsolete specific antibody deficiency with normal immunoglobulin concentrations and normal numbers of B cells -MONDO:0019094 congenital Epstein-Barr virus infection MONDO:0015576 Orphanet:70596 Orphanet:163585 obsolete rare viral disease -MONDO:0019095 plague MONDO:0015575 Orphanet:707 Orphanet:163582 obsolete rare bacterial infectious disease -MONDO:0019096 obsolete rare pulmonary hypertension MONDO:0020000 Orphanet:71198 Orphanet:97955 obsolete rare respiratory disease -MONDO:0019097 obsolete hemorrhagic disorder due to a constitutional platelet anomaly MONDO:0016629 Orphanet:71202 Orphanet:248326 obsolete hemorrhagic disorder due to a platelet anomaly -MONDO:0019097 obsolete hemorrhagic disorder due to a constitutional platelet anomaly MONDO:0021181 Orphanet:71202 Orphanet:183654 inherited blood coagulation disorder -MONDO:0019098 autoimmune thrombocytopenia MONDO:0016631 Orphanet:71203 Orphanet:248347 obsolete hemorrhagic disorder due to an acquired platelet anomaly -MONDO:0019099 obsolete rare soft tissue tumor MONDO:0020031 Orphanet:71209 Orphanet:98057 obsolete rare tumor -MONDO:0019100 neuromyelitis optica MONDO:0016428 Orphanet:71211 Orphanet:228145 obsolete multiple sclerosis variant -MONDO:0019101 retinal capillary malformation MONDO:0015145 Orphanet:71213 Orphanet:102006 obsolete neurovascular malformation -MONDO:0019101 retinal capillary malformation MONDO:0016228 Orphanet:71213 Orphanet:211237 obsolete rare vascular tumor -MONDO:0019101 retinal capillary malformation MONDO:0018729 Orphanet:71213 Orphanet:459543 obsolete genetic vascular tumor -MONDO:0019101 retinal capillary malformation MONDO:0031949 Orphanet:71213 Orphanet:371436 obsolete genetic neurovascular malformation -MONDO:0019102 dentinogenesis imperfecta-short stature-hearing loss-intellectual disability syndrome MONDO:0015877 Orphanet:71267 Orphanet:180766 obsolete malformative syndrome with dentinogenesis imperfecta -MONDO:0019102 dentinogenesis imperfecta-short stature-hearing loss-intellectual disability syndrome MONDO:0019589 Orphanet:71267 Orphanet:90642 obsolete syndromic genetic hearing loss -MONDO:0019102 dentinogenesis imperfecta-short stature-hearing loss-intellectual disability syndrome MONDO:0026190 Orphanet:71267 Orphanet:183580 obsolete genetic malformation syndrome with odontal and/or periodontal component -MONDO:0019102 dentinogenesis imperfecta-short stature-hearing loss-intellectual disability syndrome MONDO:0035863 Orphanet:71267 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0019102 dentinogenesis imperfecta-short stature-hearing loss-intellectual disability syndrome MONDO:8000032 Orphanet:71267 Orphanet:377789 obsolete malformation syndrome -MONDO:0019104 Sandifer syndrome MONDO:0015111 Orphanet:71272 Orphanet:101936 obsolete gastroesophageal disease -MONDO:0019104 Sandifer syndrome MONDO:0017657 Orphanet:71272 Orphanet:306768 obsolete rare paroxysmal movement disorder -MONDO:0019105 renal nutcracker syndrome MONDO:0015621 Orphanet:71273 Orphanet:165711 obsolete rare abdominal surgical disease -MONDO:0019105 renal nutcracker syndrome MONDO:0019721 Orphanet:71273 Orphanet:93547 obsolete syndromic renal or urinary tract malformation -MONDO:0019108 silent sinus syndrome MONDO:0020017 Orphanet:71276 Orphanet:98036 obsolete rare otorhinolaryngologic disease -MONDO:0019109 CANOMAD syndrome MONDO:0015916 Orphanet:71279 Orphanet:182064 obsolete rare neuroinflammatory or neuroimmunological disease -MONDO:0019109 CANOMAD syndrome MONDO:0016169 Orphanet:71279 Orphanet:208974 obsolete chronic acquired demyelinating polyneuropathy -MONDO:0019109 CANOMAD syndrome MONDO:0016178 Orphanet:71279 Orphanet:209010 obsolete peripheral neuropathy associated with monoclonal gammopathy -MONDO:0019110 obsolete rare central nervous system or retinal vascular disease MONDO:0020009 Orphanet:71281 Orphanet:98006 obsolete rare neurologic disease -MONDO:0019111 familial thrombocytosis MONDO:0016636 Orphanet:71493 Orphanet:248401 obsolete thrombotic disorder due to a constitutional platelet anomaly -MONDO:0019114 psychogenic movement disorders MONDO:0015143 Orphanet:71519 Orphanet:102003 obsolete rare movement disorder -MONDO:0019114 psychogenic movement disorders MONDO:0032013 Orphanet:71519 Orphanet:377792 obsolete clinical syndrome -MONDO:0019115 obesity due to melanocortin 4 receptor deficiency MONDO:0015825 Orphanet:71529 Orphanet:179490 obsolete obesity due to congenital leptin resistance -MONDO:0019117 obsolete genetic nervous system disorder MONDO:0021198 Orphanet:71859 Orphanet:98053 obsolete rare genetic disease -MONDO:0019120 pili bifurcati MONDO:0019281 Orphanet:720 Orphanet:79366 obsolete isolated genetic hair shaft abnormality -MONDO:0019121 pneumocystosis MONDO:0015578 Orphanet:723 Orphanet:163591 obsolete rare mycosis -MONDO:0019124 microscopic polyangiitis MONDO:0016177 Orphanet:727 Orphanet:209007 obsolete systemic inflammatory disease associated with an acquired peripheral neuropathy -MONDO:0019125 relapsing polychondritis MONDO:0015939 Orphanet:728 Orphanet:182228 obsolete systemic autoimmune disease -MONDO:0019125 relapsing polychondritis MONDO:0020225 Orphanet:728 Orphanet:98641 obsolete syndromic cataract -MONDO:0019126 obsolete intractable diarrhea of infancy MONDO:0015245 Orphanet:73014 Orphanet:117569 obsolete rare intestinal disease -MONDO:0019128 mullerian aplasia MONDO:0015829 Orphanet:73217 Orphanet:180065 obsolete non-syndromic uterovaginal malformation -MONDO:0019128 mullerian aplasia MONDO:0015980 Orphanet:73217 Orphanet:183731 obsolete rare genetic gynecological and obstetrical diseases -MONDO:0019128 mullerian aplasia MONDO:0024987 Orphanet:73217 Orphanet:156622 obsolete genetic urogenital tract malformation -MONDO:0019129 global developmental delay-osteopenia-ectodermal defect syndrome MONDO:0035863 Orphanet:73223 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0019129 global developmental delay-osteopenia-ectodermal defect syndrome MONDO:8000032 Orphanet:73223 Orphanet:377789 obsolete malformation syndrome -MONDO:0019130 tubular renal disease-cardiomyopathy syndrome MONDO:0016337 Orphanet:73224 Orphanet:217619 obsolete syndrome associated with dilated cardiomyopathy -MONDO:0019130 tubular renal disease-cardiomyopathy syndrome MONDO:0019744 Orphanet:73224 Orphanet:93603 obsolete rare renal tubular disease -MONDO:0019131 ossification anomalies-psychomotor developmental delay syndrome MONDO:0019705 Orphanet:73230 Orphanet:93447 obsolete primary bone dysplasia with defective bone mineralization -MONDO:0019131 ossification anomalies-psychomotor developmental delay syndrome MONDO:0035863 Orphanet:73230 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0019132 spinal muscular atrophy-Dandy-Walker malformation-cataracts syndrome MONDO:0016131 Orphanet:73245 Orphanet:207012 obsolete spinal muscular atrophy associated with central nervous system anomaly -MONDO:0019132 spinal muscular atrophy-Dandy-Walker malformation-cataracts syndrome MONDO:0017121 Orphanet:73245 Orphanet:269546 obsolete syndrome with a Dandy-Walker malformation as major feature -MONDO:0019132 spinal muscular atrophy-Dandy-Walker malformation-cataracts syndrome MONDO:8000032 Orphanet:73245 Orphanet:377789 obsolete malformation syndrome -MONDO:0019133 visceral neuropathy-brain anomalies-facial dysmorphism-developmental delay syndrome MONDO:0020253 Orphanet:73246 Orphanet:98683 obsolete syndrome with a symptomatic strabismus -MONDO:0019133 visceral neuropathy-brain anomalies-facial dysmorphism-developmental delay syndrome MONDO:0035863 Orphanet:73246 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0019133 visceral neuropathy-brain anomalies-facial dysmorphism-developmental delay syndrome MONDO:8000032 Orphanet:73246 Orphanet:377789 obsolete malformation syndrome -MONDO:0019134 central neurocytoma MONDO:0016726 Orphanet:73256 Orphanet:251924 obsolete neuronal tumor -MONDO:0019136 Zygomycosis MONDO:0015578 Orphanet:73263 Orphanet:163591 obsolete rare mycosis -MONDO:0019137 non-24-hour sleep-wake syndrome MONDO:0019045 Orphanet:73267 Orphanet:68354 obsolete rare sleep disorder MONDO:0019138 obsolete bleeding diathesis due to a collagen receptor defect MONDO:0000001 Orphanet:73271 Orphanet:377788 disease -MONDO:0019138 obsolete bleeding diathesis due to a collagen receptor defect MONDO:0017142 Orphanet:73271 Orphanet:275736 obsolete hemorrhagic disorder due to a qualitative platelet defect -MONDO:0019140 acute ackee fruit intoxication MONDO:0035328 Orphanet:73423 Orphanet:556508 obsolete rare disorder due to poisoning -MONDO:0019141 porokeratosis of Mibelli MONDO:0026152 Orphanet:735 Orphanet:183444 obsolete genetic porokeratosis -MONDO:0019142 inherited porphyria MONDO:0019301 Orphanet:738 Orphanet:79387 obsolete metabolic disease with skin involvement -MONDO:0019142 inherited porphyria MONDO:0019304 Orphanet:738 Orphanet:79390 obsolete rare photodermatosis -MONDO:0019142 inherited porphyria MONDO:0019743 Orphanet:738 Orphanet:93593 obsolete nephropathy secondary to a storage or other metabolic disease -MONDO:0019143 angiostrongyliasis MONDO:0015577 Orphanet:74 Orphanet:163588 obsolete rare parasitic disease -MONDO:0019144 hereditary thrombophilia due to congenital protein S deficiency MONDO:0016320 Orphanet:743 Orphanet:217454 obsolete rare hereditary thrombophilia -MONDO:0019145 hereditary thrombophilia due to congenital protein C deficiency MONDO:0016320 Orphanet:745 Orphanet:217454 obsolete rare hereditary thrombophilia -MONDO:0019147 myiasis MONDO:0015577 Orphanet:75110 Orphanet:163588 obsolete rare parasitic disease -MONDO:0019148 Wolman disease MONDO:0015115 Orphanet:75233 Orphanet:101940 obsolete rare genetic metabolic liver disease -MONDO:0019148 Wolman disease MONDO:8000031 Orphanet:75233 Orphanet:557494 obsolete subtype of a disorder MONDO:0019150 obsolete familial isolated restrictive cardiomyopathy MONDO:0000001 Orphanet:75249 Orphanet:377788 disease -MONDO:0019150 obsolete familial isolated restrictive cardiomyopathy MONDO:0016340 Orphanet:75249 Orphanet:217635 familial restrictive cardiomyopathy -MONDO:0019152 Oguchi disease MONDO:8000032 Orphanet:75382 Orphanet:377789 obsolete malformation syndrome -MONDO:0019153 brain malformation-congenital heart disease-postaxial polydactyly syndrome MONDO:0015506 Orphanet:75389 Orphanet:156532 obsolete rare syndrome with cardiac malformations -MONDO:0019153 brain malformation-congenital heart disease-postaxial polydactyly syndrome MONDO:0035863 Orphanet:75389 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0019153 brain malformation-congenital heart disease-postaxial polydactyly syndrome MONDO:8000032 Orphanet:75389 Orphanet:377789 obsolete malformation syndrome -MONDO:0019154 androgen insensitivity syndrome MONDO:0017969 Orphanet:754 Orphanet:325351 obsolete 46,XY disorder of sex development of endocrine origin -MONDO:0019154 androgen insensitivity syndrome MONDO:0017977 Orphanet:754 Orphanet:325632 obsolete 46,XY disorder of sex development of gynecological interest -MONDO:0019154 androgen insensitivity syndrome MONDO:0018388 Orphanet:754 Orphanet:399685 obsolete rare male infertility due to testicular endocrine disorder -MONDO:0019155 Leydig cell hypoplasia MONDO:0017970 Orphanet:755 Orphanet:325357 obsolete 46,XY disorder of sex development due to impaired androgen production -MONDO:0019155 Leydig cell hypoplasia MONDO:0018388 Orphanet:755 Orphanet:399685 obsolete rare male infertility due to testicular endocrine disorder -MONDO:0019156 angioosteohypotrophic syndrome MONDO:0016235 Orphanet:75508 Orphanet:211277 obsolete complex vascular malformation with associated anomalies -MONDO:0019156 angioosteohypotrophic syndrome MONDO:0016524 Orphanet:75508 Orphanet:235832 obsolete congenital vascular bone syndrome -MONDO:0019156 angioosteohypotrophic syndrome MONDO:8000032 Orphanet:75508 Orphanet:377789 obsolete malformation syndrome -MONDO:0019160 primary progressive freezing gait MONDO:0017635 Orphanet:75567 Orphanet:306666 obsolete parkinsonian syndrome due to neurodegenerative disease -MONDO:0019160 primary progressive freezing gait MONDO:0032013 Orphanet:75567 Orphanet:377792 obsolete clinical syndrome -MONDO:0019162 pseudohypoaldosteronism type 2 MONDO:0015512 Orphanet:757 Orphanet:156629 obsolete genetic hypertension -MONDO:0019164 6q terminal deletion syndrome MONDO:0015246 Orphanet:75857 Orphanet:117573 obsolete syndromic anorectal malformation -MONDO:0019164 6q terminal deletion syndrome MONDO:8000032 Orphanet:75857 Orphanet:377789 obsolete malformation syndrome -MONDO:0019167 immunoglobulin A vasculitis MONDO:0017022 Orphanet:761 Orphanet:264709 obsolete secondary interstitial lung disease specific to childhood associated with a systemic vasculitis -MONDO:0019168 pyomyositis MONDO:0015575 Orphanet:764 Orphanet:163582 obsolete rare bacterial infectious disease -MONDO:0019169 pyruvate dehydrogenase deficiency MONDO:0016402 Orphanet:765 Orphanet:225700 obsolete mitochondrial disease with epilepsy -MONDO:0019169 pyruvate dehydrogenase deficiency MONDO:0016403 Orphanet:765 Orphanet:225703 obsolete mitochondrial disease with peripheral neuropathy -MONDO:0019169 pyruvate dehydrogenase deficiency MONDO:0035862 Orphanet:765 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome -MONDO:0019170 polyarteritis nodosa MONDO:0015489 Orphanet:767 Orphanet:156143 obsolete predominantly medium-vessel vasculitis -MONDO:0019170 polyarteritis nodosa MONDO:0016177 Orphanet:767 Orphanet:209007 obsolete systemic inflammatory disease associated with an acquired peripheral neuropathy -MONDO:0019171 familial long QT syndrome MONDO:0015110 Orphanet:768 Orphanet:101934 obsolete genetic cardiac rhythm disease -MONDO:0019173 rabies MONDO:0015576 Orphanet:770 Orphanet:163585 obsolete rare viral disease MONDO:0019174 obsolete infantile Refsum disease MONDO:0000001 Orphanet:772 Orphanet:377788 disease -MONDO:0019174 obsolete infantile Refsum disease MONDO:0015327 Orphanet:772 Orphanet:139009 developmental anomaly of metabolic origin -MONDO:0019174 obsolete infantile Refsum disease MONDO:0016398 Orphanet:772 Orphanet:225686 obsolete peroxisomal disease with epilepsy -MONDO:0019174 obsolete infantile Refsum disease MONDO:0019234 Orphanet:772 Orphanet:79189 peroxisome biogenesis disorder -MONDO:0019174 obsolete infantile Refsum disease MONDO:0020044 Orphanet:772 Orphanet:98096 autosomal recessive metabolic cerebellar ataxia -MONDO:0019175 primary lymphedema MONDO:0016229 Orphanet:77240 Orphanet:211240 obsolete hereditary vascular anomaly -MONDO:0019175 primary lymphedema MONDO:0016233 Orphanet:77240 Orphanet:211255 obsolete rare lymphatic system malformation -MONDO:0019175 primary lymphedema MONDO:0019043 Orphanet:77240 Orphanet:68346 obsolete rare genetic skin disease -MONDO:0019175 primary lymphedema MONDO:0019519 Orphanet:77240 Orphanet:89826 obsolete rare skin disease -MONDO:0019176 obsolete trichorhinophalangeal syndrome type I or III MONDO:0017951 Orphanet:77258 Orphanet:324764 trichorhinophalangeal syndrome -MONDO:0019176 obsolete trichorhinophalangeal syndrome type I or III MONDO:8000032 Orphanet:77258 Orphanet:377789 obsolete malformation syndrome -MONDO:0019177 odontoleukodystrophy MONDO:0017333 Orphanet:77295 Orphanet:289494 obsolete hypomyelinating leukodystrophy with or without oligondontia and/or hypogonadism -MONDO:0019177 odontoleukodystrophy MONDO:8000031 Orphanet:77295 Orphanet:557494 obsolete subtype of a disorder -MONDO:0019178 auricular abnormalities-cleft lip with or without cleft palate-ocular abnormalities syndrome MONDO:0015335 Orphanet:77300 Orphanet:139039 obsolete Mendelian syndromes with cleft lip/palate -MONDO:0019178 auricular abnormalities-cleft lip with or without cleft palate-ocular abnormalities syndrome MONDO:0043008 Orphanet:77300 Orphanet:330206 obsolete genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability -MONDO:0019178 auricular abnormalities-cleft lip with or without cleft palate-ocular abnormalities syndrome MONDO:8000032 Orphanet:77300 Orphanet:377789 obsolete malformation syndrome -MONDO:0019179 monosomy 9q22.3 MONDO:0020253 Orphanet:77301 Orphanet:98683 obsolete syndrome with a symptomatic strabismus -MONDO:0019179 monosomy 9q22.3 MONDO:8000032 Orphanet:77301 Orphanet:377789 obsolete malformation syndrome -MONDO:0019180 hereditary hemorrhagic telangiectasia MONDO:0015113 Orphanet:774 Orphanet:101938 obsolete rare vascular liver disease -MONDO:0019180 hereditary hemorrhagic telangiectasia MONDO:0015145 Orphanet:774 Orphanet:102006 obsolete neurovascular malformation -MONDO:0019180 hereditary hemorrhagic telangiectasia MONDO:0015331 Orphanet:774 Orphanet:139027 obsolete malformation syndrome with skin/mucosae involvement -MONDO:0019180 hereditary hemorrhagic telangiectasia MONDO:0015930 Orphanet:774 Orphanet:182111 obsolete respiratory malformation -MONDO:0019180 hereditary hemorrhagic telangiectasia MONDO:0015948 Orphanet:774 Orphanet:183478 obsolete rare genetic skin vascular disorder -MONDO:0019180 hereditary hemorrhagic telangiectasia MONDO:0018728 Orphanet:774 Orphanet:459526 obsolete rare genetic capillary malformation -MONDO:0019180 hereditary hemorrhagic telangiectasia MONDO:0020063 Orphanet:774 Orphanet:98196 obsolete malformation syndrome with hamartosis -MONDO:0019180 hereditary hemorrhagic telangiectasia MONDO:0020198 Orphanet:774 Orphanet:98610 obsolete rare conjunctival disease -MONDO:0019180 hereditary hemorrhagic telangiectasia MONDO:0026203 Orphanet:774 Orphanet:183622 obsolete genetic respiratory malformation -MONDO:0019180 hereditary hemorrhagic telangiectasia MONDO:0031949 Orphanet:774 Orphanet:371436 obsolete genetic neurovascular malformation -MONDO:0019181 non-syndromic X-linked intellectual disability MONDO:0015108 Orphanet:777 Orphanet:101685 obsolete rare non-syndromic intellectual disability -MONDO:0019181 non-syndromic X-linked intellectual disability MONDO:8000031 Orphanet:777 Orphanet:557494 obsolete subtype of a disorder -MONDO:0019182 inherited obesity MONDO:0015513 Orphanet:77828 Orphanet:156638 obsolete rare genetic endocrine disease -MONDO:0019182 inherited obesity MONDO:0020005 Orphanet:77828 Orphanet:97978 obsolete rare endocrine disease -MONDO:0019182 inherited obesity MONDO:0026188 Orphanet:77828 Orphanet:183573 obsolete genetic overgrowth/obesity syndrome -MONDO:0019183 obsolete inherited odontologic disease MONDO:0021198 Orphanet:77830 Orphanet:98053 obsolete rare genetic disease -MONDO:0019186 Q fever MONDO:0015575 Orphanet:781 Orphanet:163582 obsolete rare bacterial infectious disease -MONDO:0019187 Axenfeld-Rieger syndrome MONDO:0015246 Orphanet:782 Orphanet:117573 obsolete syndromic anorectal malformation -MONDO:0019187 Axenfeld-Rieger syndrome MONDO:0019827 Orphanet:782 Orphanet:95495 obsolete disease associated with non-acquired combined pituitary hormone deficiency -MONDO:0019187 Axenfeld-Rieger syndrome MONDO:0020222 Orphanet:782 Orphanet:98638 obsolete rare disease with glaucoma as a major feature -MONDO:0019187 Axenfeld-Rieger syndrome MONDO:0043008 Orphanet:782 Orphanet:330206 obsolete genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability -MONDO:0019187 Axenfeld-Rieger syndrome MONDO:8000032 Orphanet:782 Orphanet:377789 obsolete malformation syndrome -MONDO:0019188 Rubinstein-Taybi syndrome MONDO:0015329 Orphanet:783 Orphanet:139021 obsolete malformation syndrome with short stature -MONDO:0019188 Rubinstein-Taybi syndrome MONDO:0015945 Orphanet:783 Orphanet:183422 obsolete polymalformative genetic syndrome with increased risk of developing cancer -MONDO:0019188 Rubinstein-Taybi syndrome MONDO:0016565 Orphanet:783 Orphanet:240371 obsolete syndromic genetic obesity -MONDO:0019188 Rubinstein-Taybi syndrome MONDO:0016756 Orphanet:783 Orphanet:252190 obsolete inherited nervous system cancer-predisposing syndrome -MONDO:0019188 Rubinstein-Taybi syndrome MONDO:0019721 Orphanet:783 Orphanet:93547 obsolete syndromic renal or urinary tract malformation -MONDO:0019188 Rubinstein-Taybi syndrome MONDO:0020222 Orphanet:783 Orphanet:98638 obsolete rare disease with glaucoma as a major feature -MONDO:0019188 Rubinstein-Taybi syndrome MONDO:0020237 Orphanet:783 Orphanet:98655 obsolete lens shape anomaly -MONDO:0019188 Rubinstein-Taybi syndrome MONDO:0026187 Orphanet:783 Orphanet:183570 obsolete genetic malformation syndrome with short stature -MONDO:0019188 Rubinstein-Taybi syndrome MONDO:0035863 Orphanet:783 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0019188 Rubinstein-Taybi syndrome MONDO:0800094 Orphanet:783 Orphanet:498454 obsolete dysostosis with brachydactyly with extraskeletal manifestations -MONDO:0019188 Rubinstein-Taybi syndrome MONDO:8000032 Orphanet:783 Orphanet:377789 obsolete malformation syndrome -MONDO:0019190 juvenile polyposis of infancy MONDO:8000031 Orphanet:79076 Orphanet:557494 obsolete subtype of a disorder -MONDO:0019191 IgG4-related dacryoadenitis and sialadenitis MONDO:0020017 Orphanet:79078 Orphanet:98036 obsolete rare otorhinolaryngologic disease -MONDO:0019191 IgG4-related dacryoadenitis and sialadenitis MONDO:0034923 Orphanet:79078 Orphanet:519264 obsolete inflammatory/autoimmune disorder involving the lacrimal system -MONDO:0019191 IgG4-related dacryoadenitis and sialadenitis MONDO:8000031 Orphanet:79078 Orphanet:557494 obsolete subtype of a disorder -MONDO:0019193 acquired generalized lipodystrophy MONDO:0015885 Orphanet:79086 Orphanet:181368 obsolete rare insulin-resistance syndrome -MONDO:0019196 Foix-Alajouanine syndrome MONDO:0015145 Orphanet:79093 Orphanet:102006 obsolete neurovascular malformation -MONDO:0019196 Foix-Alajouanine syndrome MONDO:0016234 Orphanet:79093 Orphanet:211266 obsolete rare arteriovenous malformation -MONDO:0019196 Foix-Alajouanine syndrome MONDO:8000032 Orphanet:79093 Orphanet:377789 obsolete malformation syndrome -MONDO:0019197 folinic acid-responsive seizures MONDO:0019058 Orphanet:79097 Orphanet:68385 obsolete neurometabolic disease -MONDO:0019199 interstitial granulomatous dermatitis with arthritis MONDO:0015940 Orphanet:79099 Orphanet:182231 obsolete rare rheumatologic disease -MONDO:0019199 interstitial granulomatous dermatitis with arthritis MONDO:0019546 Orphanet:79099 Orphanet:90077 obsolete other acquired skin disease -MONDO:0019200 retinitis pigmentosa MONDO:0022397 Orphanet:791 Orphanet:156168 obsolete retinal ciliopathy due to mutation in the retinitis pigmentosa-1 gene -MONDO:0019200 retinitis pigmentosa MONDO:0022399 Orphanet:791 Orphanet:156171 obsolete retinal ciliopathy due to mutation in the RPGR gene -MONDO:0019200 retinitis pigmentosa MONDO:0035862 Orphanet:791 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome -MONDO:0019202 myxofibrosarcoma MONDO:0016123 Orphanet:79105 Orphanet:206982 obsolete muscular tumor -MONDO:0019205 trichodysplasia-amelogenesis imperfecta syndrome MONDO:0015336 Orphanet:79129 Orphanet:139042 obsolete malformation syndrome with odontal and/or periodontal component -MONDO:0019205 trichodysplasia-amelogenesis imperfecta syndrome MONDO:0026190 Orphanet:79129 Orphanet:183580 obsolete genetic malformation syndrome with odontal and/or periodontal component -MONDO:0019205 trichodysplasia-amelogenesis imperfecta syndrome MONDO:8000032 Orphanet:79129 Orphanet:377789 obsolete malformation syndrome -MONDO:0019208 Bickerstaff brainstem encephalitis MONDO:0016494 Orphanet:79138 Orphanet:231416 obsolete regional variant of Guillain-Barre syndrome -MONDO:0019209 Japanese encephalitis MONDO:0015659 Orphanet:79139 Orphanet:166490 obsolete infectious disease with epilepsy -MONDO:0019210 cutaneous neuroendocrine carcinoma MONDO:0015081 Orphanet:79140 Orphanet:100101 obsolete neuroendocrine tumor with other location -MONDO:0019210 cutaneous neuroendocrine carcinoma MONDO:0019300 Orphanet:79140 Orphanet:79386 obsolete rare skin tumor or hamartoma -MONDO:0019211 isolated congenital anonychia MONDO:0015331 Orphanet:79143 Orphanet:139027 obsolete malformation syndrome with skin/mucosae involvement -MONDO:0019212 disseminated superficial actinic porokeratosis MONDO:0026152 Orphanet:79152 Orphanet:183444 obsolete genetic porokeratosis -MONDO:0019213 obsolete cerebral organic aciduria MONDO:0000688 Orphanet:79158 Orphanet:289899 inborn organic aciduria -MONDO:0019224 obsolete inborn disorder of gamma-aminobutyric acid metabolism MONDO:0019250 Orphanet:79175 Orphanet:79214 inborn disorder of biogenic amine metabolism and transport -MONDO:0019227 obsolete inborn disorder of glycerol metabolism MONDO:0019214 Orphanet:79179 Orphanet:79161 inborn carbohydrate metabolic disorder -MONDO:0019233 disorder of peroxisomal beta oxidation MONDO:0017753 Orphanet:79188 Orphanet:309810 obsolete disorder of peroxisomal alpha-, beta- and omega-oxidation -MONDO:0019234 peroxisome biogenesis disorder MONDO:0015115 Orphanet:79189 Orphanet:101940 obsolete rare genetic metabolic liver disease -MONDO:0019234 peroxisome biogenesis disorder MONDO:0016133 Orphanet:79189 Orphanet:207018 obsolete rare hereditary metabolic disease with peripheral neuropathy -MONDO:0019234 peroxisome biogenesis disorder MONDO:0019058 Orphanet:79189 Orphanet:68385 obsolete neurometabolic disease -MONDO:0019234 peroxisome biogenesis disorder MONDO:0020240 Orphanet:79189 Orphanet:98661 obsolete syndromic retinitis pigmentosa -MONDO:0019249 mucopolysaccharidosis MONDO:0020222 Orphanet:79213 Orphanet:98638 obsolete rare disease with glaucoma as a major feature -MONDO:0019252 obsolete other metabolic disease with skin involvement MONDO:0019301 Orphanet:79217 Orphanet:79387 obsolete metabolic disease with skin involvement -MONDO:0019253 metabolic disease involving other neurotransmitter deficiency MONDO:0016404 Orphanet:79219 Orphanet:225707 obsolete metabolic neurotransmission anomaly with epilepsy -MONDO:0019258 mild phenylketonuria MONDO:8000031 Orphanet:79253 Orphanet:557494 obsolete subtype of a disorder -MONDO:0019259 classic phenylketonuria MONDO:8000031 Orphanet:79254 Orphanet:557494 obsolete subtype of a disorder -MONDO:0019260 adult neuronal ceroid lipofuscinosis MONDO:0034953 Orphanet:79262 Orphanet:519325 obsolete syndromic inherited retinal disorder -MONDO:0019261 infantile neuronal ceroid lipofuscinosis MONDO:0034953 Orphanet:79263 Orphanet:519325 obsolete syndromic inherited retinal disorder -MONDO:0019262 juvenile neuronal ceroid lipofuscinosis MONDO:0034953 Orphanet:79264 Orphanet:519325 obsolete syndromic inherited retinal disorder -MONDO:0019263 autosomal erythropoietic protoporphyria MONDO:0015115 Orphanet:79278 Orphanet:101940 obsolete rare genetic metabolic liver disease -MONDO:0019264 alpha-N-acetylgalactosaminidase deficiency type 3 MONDO:0020228 Orphanet:79281 Orphanet:98644 obsolete cataract associated with a metabolic disease -MONDO:0019264 alpha-N-acetylgalactosaminidase deficiency type 3 MONDO:0020253 Orphanet:79281 Orphanet:98683 obsolete syndrome with a symptomatic strabismus -MONDO:0019264 alpha-N-acetylgalactosaminidase deficiency type 3 MONDO:8000031 Orphanet:79281 Orphanet:557494 obsolete subtype of a disorder -MONDO:0019266 SAPHO syndrome MONDO:0017370 Orphanet:793 Orphanet:290842 obsolete autoinflammatory syndrome with skin involvement -MONDO:0019266 SAPHO syndrome MONDO:0017954 Orphanet:793 Orphanet:324927 obsolete pyogenic autoinflammatory syndrome -MONDO:0019267 vitamin B12-unresponsive methylmalonic acidemia type mut- MONDO:8000031 Orphanet:79312 Orphanet:557494 obsolete subtype of a disorder -MONDO:0019268 epidermal disease MONDO:0019519 Orphanet:79353 Orphanet:89826 obsolete rare skin disease -MONDO:0019271 obsolete acrokeratoderma MONDO:0019268 Orphanet:79356 Orphanet:79353 epidermal disease -MONDO:0019272 hereditary palmoplantar keratoderma MONDO:0015946 Orphanet:79357 Orphanet:183426 obsolete rare genetic epidermal disorder -MONDO:0019274 obsolete other epidermal disorder MONDO:0019268 Orphanet:79359 Orphanet:79353 epidermal disease -MONDO:0019275 obsolete other genetic epidermal disease MONDO:0015946 Orphanet:79360 Orphanet:183426 obsolete rare genetic epidermal disorder -MONDO:0019276 inherited epidermolysis bullosa MONDO:0015946 Orphanet:79361 Orphanet:183426 obsolete rare genetic epidermal disorder -MONDO:0019277 obsolete epidermal appendage anomaly MONDO:0019519 Orphanet:79362 Orphanet:89826 obsolete rare skin disease -MONDO:0019278 hair anomaly MONDO:0019277 Orphanet:79363 Orphanet:79362 obsolete epidermal appendage anomaly -MONDO:0019280 hypertrichosis MONDO:0021027 Orphanet:79365 Orphanet:183450 obsolete genetic hair anomaly -MONDO:0019281 obsolete isolated genetic hair shaft abnormality MONDO:0019278 Orphanet:79366 Orphanet:79363 hair anomaly -MONDO:0019281 obsolete isolated genetic hair shaft abnormality MONDO:0021027 Orphanet:79366 Orphanet:183450 obsolete genetic hair anomaly -MONDO:0019282 obsolete syndromic hair shaft abnormality MONDO:0019278 Orphanet:79367 Orphanet:79363 hair anomaly -MONDO:0019282 obsolete syndromic hair shaft abnormality MONDO:0021027 Orphanet:79367 Orphanet:183450 obsolete genetic hair anomaly -MONDO:0019283 nail anomaly MONDO:0019277 Orphanet:79368 Orphanet:79362 obsolete epidermal appendage anomaly -MONDO:0019284 inherited isolated nail anomaly MONDO:0021028 Orphanet:79369 Orphanet:183454 obsolete genetic nail anomaly -MONDO:0019285 obsolete syndromic nail anomaly MONDO:0019283 Orphanet:79370 Orphanet:79368 nail anomaly -MONDO:0019285 obsolete syndromic nail anomaly MONDO:0021028 Orphanet:79370 Orphanet:183454 obsolete genetic nail anomaly -MONDO:0019286 obsolete sebaceous gland anomaly MONDO:0019277 Orphanet:79372 Orphanet:79362 obsolete epidermal appendage anomaly -MONDO:0019287 ectodermal dysplasia syndrome MONDO:0015331 Orphanet:79373 Orphanet:139027 obsolete malformation syndrome with skin/mucosae involvement -MONDO:0019287 ectodermal dysplasia syndrome MONDO:0019277 Orphanet:79373 Orphanet:79362 obsolete epidermal appendage anomaly -MONDO:0019288 skin pigmentation disorder MONDO:0019519 Orphanet:79374 Orphanet:89826 obsolete rare skin disease -MONDO:0019291 obsolete rare genetic dermis disorder MONDO:0019519 Orphanet:79377 Orphanet:89826 obsolete rare skin disease -MONDO:0019292 obsolete dermis elastic tissue disorder MONDO:0019291 Orphanet:79378 Orphanet:79377 obsolete rare genetic dermis disorder -MONDO:0019293 skin vascular disease MONDO:0019291 Orphanet:79379 Orphanet:79377 obsolete rare genetic dermis disorder -MONDO:0019294 mixed dermis disorder MONDO:0019291 Orphanet:79380 Orphanet:79377 obsolete rare genetic dermis disorder -MONDO:0019296 subcutaneous tissue disorder MONDO:0019519 Orphanet:79382 Orphanet:89826 obsolete rare skin disease -MONDO:0019298 obsolete rare urticaria MONDO:0019519 Orphanet:79384 Orphanet:89826 obsolete rare skin disease -MONDO:0019298 obsolete rare urticaria MONDO:0020027 Orphanet:79384 Orphanet:98050 obsolete rare allergic disease -MONDO:0019299 obsolete unclassified genetic skin disorder MONDO:0019043 Orphanet:79385 Orphanet:68346 obsolete rare genetic skin disease -MONDO:0019299 obsolete unclassified genetic skin disorder MONDO:0019519 Orphanet:79385 Orphanet:89826 obsolete rare skin disease -MONDO:0019300 obsolete rare skin tumor or hamartoma MONDO:0019519 Orphanet:79386 Orphanet:89826 obsolete rare skin disease -MONDO:0019300 obsolete rare skin tumor or hamartoma MONDO:0020031 Orphanet:79386 Orphanet:98057 obsolete rare tumor -MONDO:0019301 obsolete metabolic disease with skin involvement MONDO:0019043 Orphanet:79387 Orphanet:68346 obsolete rare genetic skin disease -MONDO:0019301 obsolete metabolic disease with skin involvement MONDO:0019519 Orphanet:79387 Orphanet:89826 obsolete rare skin disease -MONDO:0019303 premature aging syndrome MONDO:0019043 Orphanet:79389 Orphanet:68346 obsolete rare genetic skin disease -MONDO:0019303 premature aging syndrome MONDO:0019519 Orphanet:79389 Orphanet:89826 obsolete rare skin disease -MONDO:0019304 obsolete rare photodermatosis MONDO:0019519 Orphanet:79390 Orphanet:89826 obsolete rare skin disease -MONDO:0019305 obsolete immune deficiency with skin involvement MONDO:0019519 Orphanet:79391 Orphanet:89826 obsolete rare skin disease -MONDO:0019307 generalized junctional epidermolysis bullosa non-Herlitz type MONDO:0020014 Orphanet:79402 Orphanet:98027 obsolete rare disease with odontological manifestation -MONDO:0019308 junctional epidermolysis bullosa inversa MONDO:0020014 Orphanet:79405 Orphanet:98027 obsolete rare disease with odontological manifestation -MONDO:0019309 late-onset junctional epidermolysis bullosa MONDO:0020014 Orphanet:79406 Orphanet:98027 obsolete rare disease with odontological manifestation -MONDO:0019311 wooly hair nevus MONDO:0019281 Orphanet:79414 Orphanet:79366 obsolete isolated genetic hair shaft abnormality -MONDO:0019312 Hermansky-Pudlak syndrome MONDO:0020118 Orphanet:79430 Orphanet:98456 obsolete dense granule disease -MONDO:0019318 inflammatory linear verrucous epidermal nevus MONDO:8000031 Orphanet:79466 Orphanet:557494 obsolete subtype of a disorder -MONDO:0019319 verrucous nevus MONDO:8000031 Orphanet:79467 Orphanet:557494 obsolete subtype of a disorder -MONDO:0019320 acanthokeratolytic verrucous nevus MONDO:8000031 Orphanet:79468 Orphanet:557494 obsolete subtype of a disorder -MONDO:0019321 atypical Werner syndrome MONDO:0029813 Orphanet:79474 Orphanet:300766 obsolete laminopathy with premature aging -MONDO:0019321 atypical Werner syndrome MONDO:0031689 Orphanet:79474 Orphanet:363245 obsolete genetic progeroid syndrome -MONDO:0019323 pemphigus erythematosus MONDO:0018745 Orphanet:79480 Orphanet:46485 obsolete superficial pemphigus -MONDO:0019324 pemphigus foliaceus MONDO:0018745 Orphanet:79481 Orphanet:46485 obsolete superficial pemphigus -MONDO:0019325 phakomatosis cesioflammea MONDO:8000031 Orphanet:79483 Orphanet:557494 obsolete subtype of a disorder -MONDO:0019326 phakomatosis cesiomarmorata MONDO:8000031 Orphanet:79484 Orphanet:557494 obsolete subtype of a disorder -MONDO:0019327 phakomatosis spilorosea MONDO:8000031 Orphanet:79485 Orphanet:557494 obsolete subtype of a disorder -MONDO:0019328 macrocystic lymphatic malformation MONDO:0018720 Orphanet:79489 Orphanet:458833 obsolete common cystic lymphatic malformation -MONDO:0019328 macrocystic lymphatic malformation MONDO:8000032 Orphanet:79489 Orphanet:377789 obsolete malformation syndrome -MONDO:0019329 microcystic lymphatic malformation MONDO:0018720 Orphanet:79490 Orphanet:458833 obsolete common cystic lymphatic malformation -MONDO:0019329 microcystic lymphatic malformation MONDO:8000032 Orphanet:79490 Orphanet:377789 obsolete malformation syndrome -MONDO:0019330 pili gemini MONDO:0019281 Orphanet:79492 Orphanet:79366 obsolete isolated genetic hair shaft abnormality -MONDO:0019332 punctate palmoplantar keratoderma type 1 MONDO:0016518 Orphanet:79501 Orphanet:2338 obsolete isolated punctate palmoplantar keratoderma -MONDO:0019334 autosomal recessive hyperinsulinism due to Kir6.2 deficiency MONDO:0035862 Orphanet:79644 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome -MONDO:0019335 mild hyperphenylalaninemia MONDO:8000031 Orphanet:79651 Orphanet:557494 obsolete subtype of a disorder -MONDO:0019336 Gardner syndrome MONDO:0015950 Orphanet:79665 Orphanet:183487 obsolete inherited skin tumor -MONDO:0019336 Gardner syndrome MONDO:0019300 Orphanet:79665 Orphanet:79386 obsolete rare skin tumor or hamartoma -MONDO:0019336 Gardner syndrome MONDO:0020063 Orphanet:79665 Orphanet:98196 obsolete malformation syndrome with hamartosis -MONDO:0019336 Gardner syndrome MONDO:0034953 Orphanet:79665 Orphanet:519325 obsolete syndromic inherited retinal disorder -MONDO:0019336 Gardner syndrome MONDO:8000031 Orphanet:79665 Orphanet:557494 obsolete subtype of a disorder -MONDO:0019337 autoimmune bullous skin disease MONDO:0017841 Orphanet:79669 Orphanet:315350 obsolete autoimmune disease with skin involvement -MONDO:0019338 sarcoidosis MONDO:0015657 Orphanet:797 Orphanet:166484 obsolete inflammatory and autoimmune disease with epilepsy -MONDO:0019338 sarcoidosis MONDO:0016177 Orphanet:797 Orphanet:209007 obsolete systemic inflammatory disease associated with an acquired peripheral neuropathy -MONDO:0019338 sarcoidosis MONDO:0017028 Orphanet:797 Orphanet:264745 obsolete secondary interstitial lung disease specific to adulthood associated with a systemic disease -MONDO:0019338 sarcoidosis MONDO:0017259 Orphanet:797 Orphanet:280926 obsolete systemic diseases with anterior uveitis -MONDO:0019338 sarcoidosis MONDO:0017260 Orphanet:797 Orphanet:280930 obsolete systemic diseases with posterior uveitis -MONDO:0019338 sarcoidosis MONDO:0017261 Orphanet:797 Orphanet:280933 obsolete systemic diseases with panuveitis -MONDO:0019338 sarcoidosis MONDO:0017955 Orphanet:797 Orphanet:324930 obsolete granulomatous autoinflammatory syndrome -MONDO:0019338 sarcoidosis MONDO:0019843 Orphanet:797 Orphanet:95617 obsolete pituitary hormone deficiency secondary to a granulomatous disease -MONDO:0019339 47,XYY syndrome MONDO:0017005 Orphanet:8 Orphanet:263746 obsolete Y chromosome number anomaly -MONDO:0019339 47,XYY syndrome MONDO:8000032 Orphanet:8 Orphanet:377789 obsolete malformation syndrome -MONDO:0019340 scleroderma MONDO:0017368 Orphanet:801 Orphanet:290836 obsolete systemic disease with skin involvement -MONDO:0019342 Seckel syndrome MONDO:0017950 Orphanet:808 Orphanet:324761 obsolete microcephalic primordial dwarfism -MONDO:0019342 Seckel syndrome MONDO:0019699 Orphanet:808 Orphanet:93440 obsolete slender bone dysplasia -MONDO:0019342 Seckel syndrome MONDO:8000032 Orphanet:808 Orphanet:377789 obsolete malformation syndrome -MONDO:0019344 antisynthetase syndrome MONDO:0017028 Orphanet:81 Orphanet:264745 obsolete secondary interstitial lung disease specific to adulthood associated with a systemic disease -MONDO:0019345 shigellosis MONDO:0015575 Orphanet:810 Orphanet:163582 obsolete rare bacterial infectious disease -MONDO:0019346 sialidosis type 1 MONDO:0019058 Orphanet:812 Orphanet:68385 obsolete neurometabolic disease -MONDO:0019346 sialidosis type 1 MONDO:0035862 Orphanet:812 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome -MONDO:0019347 peeling skin syndrome MONDO:0017262 Orphanet:817 Orphanet:281082 obsolete inherited non-syndromic ichthyosis -MONDO:0019349 Sotos syndrome MONDO:0015945 Orphanet:821 Orphanet:183422 obsolete polymalformative genetic syndrome with increased risk of developing cancer -MONDO:0019349 Sotos syndrome MONDO:0020225 Orphanet:821 Orphanet:98641 obsolete syndromic cataract -MONDO:0019349 Sotos syndrome MONDO:0035863 Orphanet:821 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0019349 Sotos syndrome MONDO:0800091 Orphanet:821 Orphanet:498448 obsolete overgrowth or tall stature syndrome with skeletal involvement -MONDO:0019350 hereditary spherocytosis MONDO:0020101 Orphanet:822 Orphanet:98364 obsolete constitutional hemolytic anemia due to membrane defect -MONDO:0019351 isolated spina bifida MONDO:0017059 Orphanet:823 Orphanet:268357 obsolete neural tube closure defect -MONDO:0019354 Stickler syndrome MONDO:0019589 Orphanet:828 Orphanet:90642 obsolete syndromic genetic hearing loss -MONDO:0019354 Stickler syndrome MONDO:0020222 Orphanet:828 Orphanet:98638 obsolete rare disease with glaucoma as a major feature -MONDO:0019354 Stickler syndrome MONDO:0024145 Orphanet:828 Orphanet:138041 obsolete Pierre Robin syndrome associated with collagen disease -MONDO:0019354 Stickler syndrome MONDO:0034953 Orphanet:828 Orphanet:519325 obsolete syndromic inherited retinal disorder -MONDO:0019354 Stickler syndrome MONDO:0034954 Orphanet:828 Orphanet:519327 obsolete syndromic vitreoretinopathy -MONDO:0019355 adult-onset Still disease MONDO:0015940 Orphanet:829 Orphanet:182231 obsolete rare rheumatologic disease -MONDO:0019356 urogenital tract malformation MONDO:0015106 Orphanet:83001 Orphanet:101433 obsolete rare urogenital disease -MONDO:0019357 congenital narrowing of cervical spinal canal MONDO:0015141 Orphanet:831 Orphanet:102000 obsolete disorder of medulla oblongata -MONDO:0019358 encephalopathy due to sulfite oxidase deficiency MONDO:0016399 Orphanet:833 Orphanet:225689 obsolete amino acid or protein metabolism disease with epilepsy -MONDO:0019358 encephalopathy due to sulfite oxidase deficiency MONDO:0019058 Orphanet:833 Orphanet:68385 obsolete neurometabolic disease -MONDO:0019358 encephalopathy due to sulfite oxidase deficiency MONDO:0034937 Orphanet:833 Orphanet:519292 obsolete syndromic ectopia lentis -MONDO:0019358 encephalopathy due to sulfite oxidase deficiency MONDO:0035862 Orphanet:833 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome -MONDO:0019365 scrub typhus MONDO:0015575 Orphanet:83317 Orphanet:163582 obsolete rare bacterial infectious disease -MONDO:0019366 free sialic acid storage disease MONDO:0016397 Orphanet:834 Orphanet:225681 obsolete lysosomal disease with epilepsy -MONDO:0019366 free sialic acid storage disease MONDO:0019058 Orphanet:834 Orphanet:68385 obsolete neurometabolic disease -MONDO:0019366 free sialic acid storage disease MONDO:0035862 Orphanet:834 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome -MONDO:0019367 regional odontodysplasia MONDO:0015603 Orphanet:83450 Orphanet:164001 obsolete rare odontal or periodontal disorder -MONDO:0019368 florid cemento-osseous dysplasia MONDO:0015603 Orphanet:83451 Orphanet:164001 obsolete rare odontal or periodontal disorder -MONDO:0019369 complex regional pain syndrome MONDO:0020009 Orphanet:83452 Orphanet:98006 obsolete rare neurologic disease -MONDO:0019370 vulvovaginal gingival syndrome MONDO:0015859 Orphanet:83453 Orphanet:180205 obsolete rare non-malformative uterovaginal or vulvovaginal disease -MONDO:0019370 vulvovaginal gingival syndrome MONDO:0016768 Orphanet:83453 Orphanet:254373 obsolete rare mucosal lichen planus -MONDO:0019373 desmoplastic small round cell tumor MONDO:0015683 Orphanet:83469 Orphanet:168807 obsolete primary malignant peritoneal tumor -MONDO:0019374 CAMOS syndrome MONDO:0018609 Orphanet:83472 Orphanet:441434 obsolete syndromic hereditary optic neuropathy -MONDO:0019374 CAMOS syndrome MONDO:0035863 Orphanet:83472 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0019374 CAMOS syndrome MONDO:8000032 Orphanet:83472 Orphanet:377789 obsolete malformation syndrome -MONDO:0019375 megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome MONDO:0016055 Orphanet:83473 Orphanet:199639 obsolete syndrome with corpus callosum agenesis /dysgenesis as a major feature -MONDO:0019375 megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome MONDO:0017122 Orphanet:83473 Orphanet:269573 obsolete genetic syndrome with corpus callosum agenesis/dysgenesis as a major feature -MONDO:0019375 megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome MONDO:0035863 Orphanet:83473 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0019375 megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome MONDO:8000032 Orphanet:83473 Orphanet:377789 obsolete malformation syndrome -MONDO:0019376 West-Nile encephalitis MONDO:0015659 Orphanet:83476 Orphanet:166490 obsolete infectious disease with epilepsy -MONDO:0019377 Mycoplasma encephalitis MONDO:0015659 Orphanet:83482 Orphanet:166490 obsolete infectious disease with epilepsy -MONDO:0019378 la Crosse encephalitis MONDO:0015659 Orphanet:83483 Orphanet:166490 obsolete infectious disease with epilepsy -MONDO:0019380 western equine encephalitis MONDO:0015659 Orphanet:83593 Orphanet:166490 obsolete infectious disease with epilepsy -MONDO:0019383 acute disseminated encephalomyelitis MONDO:0015659 Orphanet:83597 Orphanet:166490 obsolete infectious disease with epilepsy -MONDO:0019383 acute disseminated encephalomyelitis MONDO:0016428 Orphanet:83597 Orphanet:228145 obsolete multiple sclerosis variant -MONDO:0019384 encephalitis lethargica MONDO:0015659 Orphanet:83600 Orphanet:166490 obsolete infectious disease with epilepsy -MONDO:0019384 encephalitis lethargica MONDO:0017635 Orphanet:83600 Orphanet:306666 obsolete parkinsonian syndrome due to neurodegenerative disease -MONDO:0019384 encephalitis lethargica MONDO:0020069 Orphanet:83600 Orphanet:98255 obsolete chronic encephalitis -MONDO:0019385 steroid-responsive encephalopathy associated with autoimmune thyroiditis MONDO:0015777 Orphanet:83601 Orphanet:177101 obsolete adult hypothyroidism -MONDO:0019385 steroid-responsive encephalopathy associated with autoimmune thyroiditis MONDO:0020016 Orphanet:83601 Orphanet:98033 obsolete rare neurologic disease with psychiatric involvement -MONDO:0019386 progressive rubella panencephalitis MONDO:0015659 Orphanet:83616 Orphanet:166490 obsolete infectious disease with epilepsy -MONDO:0019386 progressive rubella panencephalitis MONDO:0020069 Orphanet:83616 Orphanet:98255 obsolete chronic encephalitis -MONDO:0019387 macrostomia-preauricular tags-external ophthalmoplegia syndrome MONDO:0043008 Orphanet:83619 Orphanet:330206 obsolete genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability -MONDO:0019387 macrostomia-preauricular tags-external ophthalmoplegia syndrome MONDO:8000032 Orphanet:83619 Orphanet:377789 obsolete malformation syndrome -MONDO:0019388 pelvis syndrome MONDO:0015246 Orphanet:83628 Orphanet:117573 obsolete syndromic anorectal malformation -MONDO:0019388 pelvis syndrome MONDO:0017120 Orphanet:83628 Orphanet:269531 obsolete other syndrome with a central nervous system malformation as major feature -MONDO:0019388 pelvis syndrome MONDO:0018718 Orphanet:83628 Orphanet:458827 obsolete vascular tumor with associated anomalies -MONDO:0019388 pelvis syndrome MONDO:0019299 Orphanet:83628 Orphanet:79385 obsolete unclassified genetic skin disorder -MONDO:0019388 pelvis syndrome MONDO:0043008 Orphanet:83628 Orphanet:330206 obsolete genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability -MONDO:0019388 pelvis syndrome MONDO:8000032 Orphanet:83628 Orphanet:377789 obsolete malformation syndrome -MONDO:0019390 Susac syndrome MONDO:0015939 Orphanet:838 Orphanet:182228 obsolete systemic autoimmune disease -MONDO:0019390 Susac syndrome MONDO:0019110 Orphanet:838 Orphanet:71281 obsolete rare central nervous system or retinal vascular disease -MONDO:0019390 Susac syndrome MONDO:0024471 Orphanet:838 Orphanet:496924 obsolete non-inflammatory vasculopathy -MONDO:0019391 Fanconi anemia MONDO:0015945 Orphanet:84 Orphanet:183422 obsolete polymalformative genetic syndrome with increased risk of developing cancer -MONDO:0019391 Fanconi anemia MONDO:0017432 Orphanet:84 Orphanet:294955 obsolete syndrome with limb reduction defects -MONDO:0019391 Fanconi anemia MONDO:0019747 Orphanet:84 Orphanet:93614 obsolete hematological disorder with renal involvement -MONDO:0019391 Fanconi anemia MONDO:0035863 Orphanet:84 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0019391 Fanconi anemia MONDO:0043008 Orphanet:84 Orphanet:330206 obsolete genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability -MONDO:0019391 Fanconi anemia MONDO:8000032 Orphanet:84 Orphanet:377789 obsolete malformation syndrome -MONDO:0019392 syringocystadenoma papilliferum MONDO:0015950 Orphanet:840 Orphanet:183487 obsolete inherited skin tumor -MONDO:0019392 syringocystadenoma papilliferum MONDO:0019300 Orphanet:840 Orphanet:79386 obsolete rare skin tumor or hamartoma -MONDO:0019393 idiopathic malabsorption due to bile acid synthesis defects MONDO:0015180 Orphanet:84065 Orphanet:104005 obsolete intestinal disease due to fat malabsorption -MONDO:0019394 Senior-Boichis syndrome MONDO:0022409 Orphanet:84081 Orphanet:156162 obsolete nephropathy-associated ciliopathy -MONDO:0019395 Hinman syndrome MONDO:0015106 Orphanet:84085 Orphanet:101433 obsolete rare urogenital disease -MONDO:0019399 Isaac syndrome MONDO:0016375 Orphanet:84142 Orphanet:221114 obsolete acquired peripheral movement disorder -MONDO:0019399 Isaac syndrome MONDO:0038268 Orphanet:84142 Orphanet:98750 obsolete autoimmune neurological channelopathy -MONDO:0019402 beta thalassemia MONDO:0019747 Orphanet:848 Orphanet:93614 obsolete hematological disorder with renal involvement -MONDO:0019402 beta thalassemia MONDO:0019844 Orphanet:848 Orphanet:95618 obsolete pituitary hormone deficiency secondary to storage disease -MONDO:0019403 congenital dyserythropoietic anemia MONDO:0017397 Orphanet:85 Orphanet:293830 obsolete constitutional dyserythropoietic anemia -MONDO:0019405 facial onset sensory and motor neuronopathy MONDO:0015918 Orphanet:85162 Orphanet:182070 obsolete rare neurodegenerative disease -MONDO:0019406 craniofacial conodysplasia MONDO:8000032 Orphanet:85168 Orphanet:377789 obsolete malformation syndrome -MONDO:0019407 microcephalic osteodysplastic dysplasia, Saul-Wilson type MONDO:0017950 Orphanet:85172 Orphanet:324761 obsolete microcephalic primordial dwarfism -MONDO:0019407 microcephalic osteodysplastic dysplasia, Saul-Wilson type MONDO:0019699 Orphanet:85172 Orphanet:93440 obsolete slender bone dysplasia -MONDO:0019407 microcephalic osteodysplastic dysplasia, Saul-Wilson type MONDO:0020225 Orphanet:85172 Orphanet:98641 obsolete syndromic cataract -MONDO:0019408 Astley-Kendall dysplasia MONDO:8000032 Orphanet:85175 Orphanet:377789 obsolete malformation syndrome -MONDO:0019409 idiopathic juvenile osteoporosis MONDO:0015940 Orphanet:85193 Orphanet:182231 obsolete rare rheumatologic disease -MONDO:0019409 idiopathic juvenile osteoporosis MONDO:0019704 Orphanet:85193 Orphanet:93446 obsolete primary bone dysplasia with decreased bone density -MONDO:0019409 idiopathic juvenile osteoporosis MONDO:8000032 Orphanet:85193 Orphanet:377789 obsolete malformation syndrome -MONDO:0019411 genochondromatosis type 1 MONDO:0800089 Orphanet:85197 Orphanet:93450 obsolete primary bone dysplasia with disorganized development of skeletal components -MONDO:0019412 dysspondyloenchondromatosis MONDO:0800089 Orphanet:85198 Orphanet:93450 obsolete primary bone dysplasia with disorganized development of skeletal components -MONDO:0019412 dysspondyloenchondromatosis MONDO:8000032 Orphanet:85198 Orphanet:377789 obsolete malformation syndrome -MONDO:0019413 ischio-vertebral syndrome MONDO:0019711 Orphanet:85200 Orphanet:93454 obsolete dysostosis with predominant vertebral and costal involvement -MONDO:0019413 ischio-vertebral syndrome MONDO:8000032 Orphanet:85200 Orphanet:377789 obsolete malformation syndrome -MONDO:0019414 BRESEK syndrome MONDO:0035863 Orphanet:85284 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0019414 BRESEK syndrome MONDO:8000032 Orphanet:85284 Orphanet:377789 obsolete malformation syndrome -MONDO:0019415 fetal and neonatal alloimmune thrombocytopenia MONDO:0016631 Orphanet:853 Orphanet:248347 obsolete hemorrhagic disorder due to an acquired platelet anomaly -MONDO:0019416 X-linked intellectual disability-hypogammaglobulinemia-progressive neurological deterioration syndrome MONDO:0035863 Orphanet:85317 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0019416 X-linked intellectual disability-hypogammaglobulinemia-progressive neurological deterioration syndrome MONDO:8000032 Orphanet:85317 Orphanet:377789 obsolete malformation syndrome -MONDO:0019418 X-linked intellectual disability-epilepsy-progressive joint contractures-dysmorphism syndrome MONDO:0035863 Orphanet:85319 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0019418 X-linked intellectual disability-epilepsy-progressive joint contractures-dysmorphism syndrome MONDO:8000032 Orphanet:85319 Orphanet:377789 obsolete malformation syndrome -MONDO:0019419 X-linked intellectual disability-macrocephaly-macroorchidism syndrome MONDO:0035863 Orphanet:85320 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0019419 X-linked intellectual disability-macrocephaly-macroorchidism syndrome MONDO:8000032 Orphanet:85320 Orphanet:377789 obsolete malformation syndrome -MONDO:0019420 X-linked intellectual disability, Pai type MONDO:0035863 Orphanet:85322 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0019420 X-linked intellectual disability, Pai type MONDO:8000032 Orphanet:85322 Orphanet:377789 obsolete malformation syndrome -MONDO:0019421 X-linked intellectual disability, Seemanova type MONDO:0035863 Orphanet:85323 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0019422 X-linked intellectual disability, Stevenson type MONDO:0035863 Orphanet:85325 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0019422 X-linked intellectual disability, Stevenson type MONDO:8000032 Orphanet:85325 Orphanet:377789 obsolete malformation syndrome -MONDO:0019423 X-linked intellectual disability, Stoll type MONDO:0035863 Orphanet:85326 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0019423 X-linked intellectual disability, Stoll type MONDO:8000032 Orphanet:85326 Orphanet:377789 obsolete malformation syndrome -MONDO:0019424 X-linked intellectual disability-acromegaly-hyperactivity syndrome MONDO:0035863 Orphanet:85327 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0019427 X-linked neurodegenerative syndrome, Bertini type MONDO:0015918 Orphanet:85334 Orphanet:182070 obsolete rare neurodegenerative disease -MONDO:0019427 X-linked neurodegenerative syndrome, Bertini type MONDO:0035862 Orphanet:85334 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome -MONDO:0019428 fried syndrome MONDO:0035863 Orphanet:85335 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0019428 fried syndrome MONDO:8000032 Orphanet:85335 Orphanet:377789 obsolete malformation syndrome -MONDO:0019429 X-linked neurodegenerative syndrome, Hamel type MONDO:0015918 Orphanet:85336 Orphanet:182070 obsolete rare neurodegenerative disease -MONDO:0019429 X-linked neurodegenerative syndrome, Hamel type MONDO:0035862 Orphanet:85336 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome -MONDO:0019430 X-linked intellectual disability-ataxia-apraxia syndrome MONDO:0035862 Orphanet:85338 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome -MONDO:0019431 primitive portal vein thrombosis MONDO:0015113 Orphanet:854 Orphanet:101938 obsolete rare vascular liver disease -MONDO:0019431 primitive portal vein thrombosis MONDO:0032013 Orphanet:854 Orphanet:377792 obsolete clinical syndrome -MONDO:0019432 rheumatoid factor-negative juvenile idiopathic arthritis MONDO:0017259 Orphanet:85408 Orphanet:280926 obsolete systemic diseases with anterior uveitis -MONDO:0019433 oligoarticular juvenile idiopathic arthritis MONDO:0017259 Orphanet:85410 Orphanet:280926 obsolete systemic diseases with anterior uveitis -MONDO:0019437 enthesitis-related juvenile idiopathic arthritis MONDO:0017259 Orphanet:85438 Orphanet:280926 obsolete systemic diseases with anterior uveitis -MONDO:0019438 AL amyloidosis MONDO:0016179 Orphanet:85443 Orphanet:209013 obsolete acquired amyloid peripheral neuropathy -MONDO:0019439 AA amyloidosis MONDO:0016179 Orphanet:85445 Orphanet:209013 obsolete acquired amyloid peripheral neuropathy -MONDO:0019441 ATTRV122I amyloidosis MONDO:0017132 Orphanet:85451 Orphanet:271861 obsolete hereditary ATTR amyloidosis -MONDO:0019443 dextro-looped transposition of the great arteries MONDO:0017131 Orphanet:860 Orphanet:271853 obsolete hereditary cardiac anomaly -MONDO:0019443 dextro-looped transposition of the great arteries MONDO:8000030 Orphanet:860 Orphanet:377791 obsolete morphological anomaly -MONDO:0019444 trichinellosis MONDO:0015577 Orphanet:863 Orphanet:163588 obsolete rare parasitic disease -MONDO:0019445 trichofolliculoma MONDO:0019300 Orphanet:864 Orphanet:79386 obsolete rare skin tumor or hamartoma -MONDO:0019448 benign adult familial myoclonic epilepsy MONDO:0017651 Orphanet:86814 Orphanet:306750 obsolete primary myoclonus -MONDO:0019449 lissencephaly type 3-familial fetal akinesia sequence syndrome MONDO:8000032 Orphanet:86821 Orphanet:377789 obsolete malformation syndrome -MONDO:0019469 T-cell large granular lymphocyte leukemia MONDO:0015822 Orphanet:86872 Orphanet:178996 obsolete acquired neutropenia -MONDO:0019469 T-cell large granular lymphocyte leukemia MONDO:0034872 Orphanet:86872 Orphanet:512034 obsolete large granular lymphocyte leukemia -MONDO:0019470 aggressive NK-cell leukemia MONDO:0034872 Orphanet:86873 Orphanet:512034 obsolete large granular lymphocyte leukemia -MONDO:0019471 adult T-cell leukemia/lymphoma MONDO:0015817 Orphanet:86875 Orphanet:178551 obsolete aggressive primary cutaneous T-cell lymphoma -MONDO:0019472 extranodal nasal NK/T cell lymphoma MONDO:0015817 Orphanet:86879 Orphanet:178551 obsolete aggressive primary cutaneous T-cell lymphoma -MONDO:0019473 enteropathy-associated T-cell lymphoma MONDO:0018505 Orphanet:86880 Orphanet:423793 obsolete rare tumor of small intestine -MONDO:0019476 primary cutaneous peripheral T-cell lymphoma not otherwise specified MONDO:0015817 Orphanet:86885 Orphanet:178551 obsolete aggressive primary cutaneous T-cell lymphoma -MONDO:0019479 histiocytic sarcoma MONDO:0020081 Orphanet:86896 Orphanet:98288 obsolete macrophage or histiocytic tumor -MONDO:0019484 hypothalamic hamartomas with gelastic seizures MONDO:0015655 Orphanet:86906 Orphanet:166478 obsolete cerebral malformation with epilepsy -MONDO:0019485 idiopathic hemiconvulsion-hemiplegia syndrome MONDO:0018200 Orphanet:86908 Orphanet:363567 obsolete acute encephalopathy with inflammation-mediated status epilepticus MONDO:0019486 obsolete myoclonic epilepsy of infancy MONDO:0000001 Orphanet:86909 Orphanet:377788 disease -MONDO:0019486 obsolete myoclonic epilepsy of infancy MONDO:0020071 Orphanet:86909 Orphanet:98258 infantile epilepsy syndrome -MONDO:0019487 epilepsy with myoclonic absences MONDO:0017654 Orphanet:86911 Orphanet:306759 obsolete non progressive epilepsy and/or ataxia with myoclonus as a major feature -MONDO:0019488 myoclonic epilepsy in non-progressive encephalopathies MONDO:8000032 Orphanet:86913 Orphanet:377789 obsolete malformation syndrome -MONDO:0019489 diffuse palmoplantar keratoderma - acrocyanosis syndrome MONDO:0020094 Orphanet:86918 Orphanet:98352 obsolete autosomal dominant disease with diffuse palmoplantar keratoderma as a major feature -MONDO:0019490 progressive familial heart block MONDO:0015110 Orphanet:871 Orphanet:101934 obsolete genetic cardiac rhythm disease -MONDO:0019491 obsolete rare intellectual disability MONDO:0020009 Orphanet:87277 Orphanet:98006 obsolete rare neurologic disease -MONDO:0019493 primary adult heart tumor MONDO:0015673 Orphanet:874 Orphanet:168194 obsolete rare cardiac tumor -MONDO:0019494 primary pediatric heart tumor MONDO:0015673 Orphanet:875 Orphanet:168194 obsolete rare cardiac tumor -MONDO:0019496 neuroendocrine neoplasm MONDO:0015936 Orphanet:877 Orphanet:182130 obsolete rare tumor of endocrine glands -MONDO:0019496 neuroendocrine neoplasm MONDO:0020005 Orphanet:877 Orphanet:97978 obsolete rare endocrine disease -MONDO:0019497 nonsyndromic genetic hearing loss MONDO:0019047 Orphanet:87884 Orphanet:68361 obsolete rare deafness -MONDO:0019497 nonsyndromic genetic hearing loss MONDO:0037716 Orphanet:87884 Orphanet:96210 obsolete rare genetic deafness -MONDO:0019498 tungiasis MONDO:0015577 Orphanet:879 Orphanet:163588 obsolete rare parasitic disease -MONDO:0019499 Turner syndrome MONDO:0015620 Orphanet:881 Orphanet:165707 obsolete syndromic urogenital tract malformation -MONDO:0019499 Turner syndrome MONDO:0017000 Orphanet:881 Orphanet:263717 obsolete X chromosome number anomaly with female phenotype -MONDO:0019499 Turner syndrome MONDO:0017978 Orphanet:881 Orphanet:325638 obsolete syndrome with disorder of sex development of gynecological interest -MONDO:0019499 Turner syndrome MONDO:0018402 Orphanet:881 Orphanet:399877 obsolete female infertility due to gonadal dysgenesis -MONDO:0019499 Turner syndrome MONDO:0018792 Orphanet:881 Orphanet:477771 obsolete Moyamoya syndrome -MONDO:0019499 Turner syndrome MONDO:0019721 Orphanet:881 Orphanet:93547 obsolete syndromic renal or urinary tract malformation -MONDO:0019499 Turner syndrome MONDO:0020165 Orphanet:881 Orphanet:98574 obsolete syndromic epicanthus -MONDO:0019499 Turner syndrome MONDO:0020226 Orphanet:881 Orphanet:98642 obsolete chromosomal anomaly with cataract -MONDO:0019499 Turner syndrome MONDO:0034443 Orphanet:881 Orphanet:485382 obsolete genetic non-acquired premature ovarian failure -MONDO:0019499 Turner syndrome MONDO:0035471 Orphanet:881 Orphanet:568047 obsolete disorder with multisystemic involvement and primary lymphedema -MONDO:0019499 Turner syndrome MONDO:8000032 Orphanet:881 Orphanet:377789 obsolete malformation syndrome -MONDO:0019501 Usher syndrome MONDO:0019589 Orphanet:886 Orphanet:90642 obsolete syndromic genetic hearing loss -MONDO:0019501 Usher syndrome MONDO:0020240 Orphanet:886 Orphanet:98661 obsolete syndromic retinitis pigmentosa -MONDO:0019501 Usher syndrome MONDO:0022404 Orphanet:886 Orphanet:156177 obsolete retinal ciliopathy due to mutation in Usher gene -MONDO:0019502 autosomal recessive non-syndromic intellectual disability MONDO:0015108 Orphanet:88616 Orphanet:101685 obsolete rare non-syndromic intellectual disability -MONDO:0019502 autosomal recessive non-syndromic intellectual disability MONDO:8000031 Orphanet:88616 Orphanet:557494 obsolete subtype of a disorder -MONDO:0019503 anterior segment dysgenesis MONDO:0020145 Orphanet:88632 Orphanet:98553 obsolete developmental defect of the eye -MONDO:0019503 anterior segment dysgenesis MONDO:0026186 Orphanet:88632 Orphanet:183557 obsolete genetic developmental defect of the eye -MONDO:0019504 superior limbic keratoconjunctivitis MONDO:0034931 Orphanet:88633 Orphanet:519280 obsolete rare conjunctivitis -MONDO:0019505 obsolete hypomyelination-hypogonadotropic hypogonadism-hypodontia syndrome MONDO:0015890 Orphanet:88637 Orphanet:181387 obsolete rare disorder with congenital hypogonadotropic hypogonadism -MONDO:0019505 obsolete hypomyelination-hypogonadotropic hypogonadism-hypodontia syndrome MONDO:0017333 Orphanet:88637 Orphanet:289494 obsolete hypomyelinating leukodystrophy with or without oligondontia and/or hypogonadism -MONDO:0019505 obsolete hypomyelination-hypogonadotropic hypogonadism-hypodontia syndrome MONDO:0035862 Orphanet:88637 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome -MONDO:0019505 obsolete hypomyelination-hypogonadotropic hypogonadism-hypodontia syndrome MONDO:8000031 Orphanet:88637 Orphanet:557494 obsolete subtype of a disorder -MONDO:0019506 obesity-colitis-hypothyroidism-cardiac hypertrophy-developmental delay syndrome MONDO:0015778 Orphanet:88643 Orphanet:177107 obsolete syndromic hypothyroidism -MONDO:0019507 amelogenesis imperfecta MONDO:0015603 Orphanet:88661 Orphanet:164001 obsolete rare odontal or periodontal disorder -MONDO:0019507 amelogenesis imperfecta MONDO:0018488 Orphanet:88661 Orphanet:420755 obsolete rare genetic odontal or periodontal disorder -MONDO:0019508 van der Woude syndrome MONDO:0015501 Orphanet:888 Orphanet:156237 obsolete syndrome or malformation associated with head and neck malformations -MONDO:0019508 van der Woude syndrome MONDO:0043008 Orphanet:888 Orphanet:330206 obsolete genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability -MONDO:0019508 van der Woude syndrome MONDO:8000032 Orphanet:888 Orphanet:377789 obsolete malformation syndrome -MONDO:0019512 congenital heart malformation MONDO:0020003 Orphanet:88991 Orphanet:97965 obsolete rare surgical cardiac disease -MONDO:0019513 obsolete esophageal malformation MONDO:0020019 Orphanet:88993 Orphanet:98039 obsolete digestive tract malformation -MONDO:0019513 obsolete esophageal malformation MONDO:0026183 Orphanet:88993 Orphanet:183545 obsolete genetic digestive tract malformation -MONDO:0019514 hepatic veno-occlusive disease MONDO:0015113 Orphanet:890 Orphanet:101938 obsolete rare vascular liver disease -MONDO:0019515 obsolete rare dementia MONDO:0020016 Orphanet:89043 Orphanet:98033 obsolete rare neurologic disease with psychiatric involvement -MONDO:0019516 exudative vitreoretinopathy MONDO:0015953 Orphanet:891 Orphanet:183503 obsolete genetic central nervous system and retinal vascular disease -MONDO:0019516 exudative vitreoretinopathy MONDO:0019110 Orphanet:891 Orphanet:71281 obsolete rare central nervous system or retinal vascular disease -MONDO:0019516 exudative vitreoretinopathy MONDO:0034943 Orphanet:891 Orphanet:519304 obsolete isolated vitreoretinopathy -MONDO:0019517 Waardenburg syndrome type 2 MONDO:8000031 Orphanet:895 Orphanet:557494 obsolete subtype of a disorder -MONDO:0019518 Waardenburg-Shah syndrome MONDO:0015184 Orphanet:897 Orphanet:104009 obsolete rare disease involving intestinal motility -MONDO:0019518 Waardenburg-Shah syndrome MONDO:0019589 Orphanet:897 Orphanet:90642 obsolete syndromic genetic hearing loss -MONDO:0019518 Waardenburg-Shah syndrome MONDO:0035340 Orphanet:897 Orphanet:557866 obsolete rare disorder with hirschsprung disease as a major feature -MONDO:0019519 obsolete rare skin disease MONDO:8000033 Orphanet:89826 Orphanet:557492 obsolete group of disorders -MONDO:0019524 Bartter syndrome type 4 MONDO:0019589 Orphanet:89938 Orphanet:90642 obsolete syndromic genetic hearing loss -MONDO:0019524 Bartter syndrome type 4 MONDO:8000031 Orphanet:89938 Orphanet:557494 obsolete subtype of a disorder -MONDO:0019525 tetrasomy X MONDO:0017002 Orphanet:9 Orphanet:263723 obsolete polysomy of X chromosome -MONDO:0019525 tetrasomy X MONDO:0018401 Orphanet:9 Orphanet:399853 obsolete female infertility due to an anomaly of ovarian function -MONDO:0019525 tetrasomy X MONDO:0018413 Orphanet:9 Orphanet:400022 obsolete female infertility due to an anomaly of ovarian function of genetic origin -MONDO:0019525 tetrasomy X MONDO:0034443 Orphanet:9 Orphanet:485382 obsolete genetic non-acquired premature ovarian failure -MONDO:0019525 tetrasomy X MONDO:8000032 Orphanet:9 Orphanet:377789 obsolete malformation syndrome -MONDO:0019526 erythema elevatum diutinum MONDO:0019546 Orphanet:90000 Orphanet:90077 obsolete other acquired skin disease -MONDO:0019527 undifferentiated connective tissue syndrome MONDO:0015939 Orphanet:90002 Orphanet:182228 obsolete systemic autoimmune disease -MONDO:0019528 inflammatory pseudotumor of the liver MONDO:0015114 Orphanet:90003 Orphanet:101939 obsolete rare parenchymal liver disease -MONDO:0019529 radiation myelitis MONDO:0015141 Orphanet:90021 Orphanet:102000 obsolete disorder of medulla oblongata -MONDO:0019530 non-syndromic syndactyly MONDO:0019714 Orphanet:90025 Orphanet:93458 obsolete non-syndromic polydactyly, syndactyly and/or hyperphalangy -MONDO:0019531 hemolytic anemia due to glutathione reductase deficiency MONDO:0020105 Orphanet:90030 Orphanet:98370 obsolete hemolytic anemia due to hexose monophosphate shunt and glutathione metabolism anomalies -MONDO:0019536 Shiga toxin-associated hemolytic uremic syndrome MONDO:8000031 Orphanet:90038 Orphanet:557494 obsolete subtype of a disorder -MONDO:0019537 hemoglobin D disease MONDO:0034039 Orphanet:90039 Orphanet:466066 obsolete genetic hemoglobinopathy -MONDO:0019538 Gaisbock syndrome MONDO:0016634 Orphanet:90041 Orphanet:248365 obsolete thrombotic disorder due to an acquired coagulation factors defect -MONDO:0019540 diffuse alveolar hemorrhage MONDO:0015118 Orphanet:90060 Orphanet:101944 obsolete rare pulmonary disease -MONDO:0019540 diffuse alveolar hemorrhage MONDO:0032013 Orphanet:90060 Orphanet:377792 obsolete clinical syndrome -MONDO:0019541 obsolete non-infectious posterior uveitis MONDO:0001280 Orphanet:90061 Orphanet:280892 choroiditis -MONDO:0019542 acute liver failure MONDO:0018928 Orphanet:90062 Orphanet:57146 obsolete rare hepatic disease -MONDO:0019542 acute liver failure MONDO:0032013 Orphanet:90062 Orphanet:377792 obsolete clinical syndrome -MONDO:0019543 acquired aneurysmal subarachnoid hemorrhage MONDO:0019110 Orphanet:90065 Orphanet:71281 obsolete rare central nervous system or retinal vascular disease -MONDO:0019543 acquired aneurysmal subarachnoid hemorrhage MONDO:0032014 Orphanet:90065 Orphanet:377793 obsolete particular clinical situation in a disease or syndrome -MONDO:0019544 cocaine intoxication MONDO:0035328 Orphanet:90068 Orphanet:556508 obsolete rare disorder due to poisoning -MONDO:0019545 systemic monochloroacetate poisoning MONDO:0035328 Orphanet:90069 Orphanet:556508 obsolete rare disorder due to poisoning -MONDO:0019546 obsolete other acquired skin disease MONDO:0019519 Orphanet:90077 Orphanet:89826 obsolete rare skin disease -MONDO:0019547 Wells syndrome MONDO:0019546 Orphanet:901 Orphanet:90077 obsolete other acquired skin disease -MONDO:0019549 severe early-onset axonal neuropathy due to MFN2 deficiency MONDO:0019601 Orphanet:90118 Orphanet:91024 obsolete autosomal recessive axonal hereditary motor and sensory neuropathy -MONDO:0019550 hereditary motor and sensory neuropathy with acrodystrophy MONDO:0019601 Orphanet:90119 Orphanet:91024 obsolete autosomal recessive axonal hereditary motor and sensory neuropathy -MONDO:0019551 hereditary motor and sensory neuropathy type 6 MONDO:0015360 Orphanet:90120 Orphanet:140456 obsolete autosomal dominant hereditary axonal motor and sensory neuropathy -MONDO:0019551 hereditary motor and sensory neuropathy type 6 MONDO:0019601 Orphanet:90120 Orphanet:91024 obsolete autosomal recessive axonal hereditary motor and sensory neuropathy -MONDO:0019557 chilblain lupus MONDO:0015948 Orphanet:90280 Orphanet:183478 obsolete rare genetic skin vascular disorder -MONDO:0019565 hereditary von Willebrand disease MONDO:0019039 Orphanet:903 Orphanet:68334 obsolete rare hemorrhagic disorder due to a constitutional coagulation factors defect -MONDO:0019569 Cockayne syndrome type 1 MONDO:8000031 Orphanet:90321 Orphanet:557494 obsolete subtype of a disorder -MONDO:0019570 Cockayne syndrome type 2 MONDO:8000031 Orphanet:90322 Orphanet:557494 obsolete subtype of a disorder -MONDO:0019572 autosomal recessive cutis laxa type 1 MONDO:0016517 Orphanet:90349 Orphanet:233655 obsolete rare genetic vascular disease -MONDO:0019573 autosomal recessive cutis laxa type 2 MONDO:0019704 Orphanet:90350 Orphanet:93446 obsolete primary bone dysplasia with decreased bone density -MONDO:0019575 hypotrichosis simplex of the scalp MONDO:0021034 Orphanet:90368 Orphanet:481771 obsolete hereditary alopecia -MONDO:0019576 telangiectasia macularis eruptiva perstans MONDO:8000031 Orphanet:90389 Orphanet:557494 obsolete subtype of a disorder -MONDO:0019577 anonychia-onychodystrophy syndrome MONDO:8000031 Orphanet:90390 Orphanet:557494 obsolete subtype of a disorder -MONDO:0019583 localized lichen myxedematosus with mixed features of different subtypes MONDO:8000031 Orphanet:90398 Orphanet:557494 obsolete subtype of a disorder -MONDO:0019584 localized lichen myxedematosus with monoclonal gammopathy or systemic symptoms MONDO:8000031 Orphanet:90399 Orphanet:557494 obsolete subtype of a disorder -MONDO:0019585 scleromyxedema without monoclonal gammopathy MONDO:8000031 Orphanet:90400 Orphanet:557494 obsolete subtype of a disorder -MONDO:0019586 X-linked nonsyndromic hearing loss MONDO:8000031 Orphanet:90625 Orphanet:557494 obsolete subtype of a disorder -MONDO:0019587 autosomal dominant nonsyndromic hearing loss MONDO:8000031 Orphanet:90635 Orphanet:557494 obsolete subtype of a disorder -MONDO:0019588 hearing loss, autosomal recessive MONDO:8000031 Orphanet:90636 Orphanet:557494 obsolete subtype of a disorder -MONDO:0019589 obsolete syndromic genetic hearing loss MONDO:0019047 Orphanet:90642 Orphanet:68361 obsolete rare deafness -MONDO:0019589 obsolete syndromic genetic hearing loss MONDO:0019755 Orphanet:90642 Orphanet:93890 developmental defect during embryogenesis -MONDO:0019589 obsolete syndromic genetic hearing loss MONDO:0037716 Orphanet:90642 Orphanet:96210 obsolete rare genetic deafness -MONDO:0019590 obsolete rare endocrine growth disease MONDO:0020005 Orphanet:90692 Orphanet:97978 obsolete rare endocrine disease -MONDO:0019591 panhypopituitarism MONDO:0015789 Orphanet:90695 Orphanet:178025 obsolete non-acquired combined pituitary hormone deficiencies without extra-pituitary malformations -MONDO:0019591 panhypopituitarism MONDO:0015891 Orphanet:90695 Orphanet:181390 obsolete hypogonadotropic hypogonadism associated with other endocrinopathies -MONDO:0019593 obsolete 46,XX disorder of sex development induced by fetal androgens excess MONDO:0020039 Orphanet:90776 Orphanet:98078 obsolete 46,XX disorder of sex development induced by androgens excess -MONDO:0019593 obsolete 46,XX disorder of sex development induced by fetal androgens excess MONDO:0031004 Orphanet:90776 Orphanet:325665 obsolete genetic disorder of sex development of gynecological interest -MONDO:0019593 obsolete 46,XX disorder of sex development induced by fetal androgens excess MONDO:0957024 Orphanet:90776 Orphanet:325697 obsolete hereditary 46,XX disorder of sex development -MONDO:0019594 obsolete 46,XY disorder of sex development due to a testosterone synthesis defect MONDO:0017970 Orphanet:90783 Orphanet:325357 obsolete 46,XY disorder of sex development due to impaired androgen production -MONDO:0019595 obsolete 46,XY disorder of sex development due to adrenal and testicular steroidogenesis defect MONDO:0017977 Orphanet:90786 Orphanet:325632 obsolete 46,XY disorder of sex development of gynecological interest -MONDO:0019595 obsolete 46,XY disorder of sex development due to adrenal and testicular steroidogenesis defect MONDO:0019594 Orphanet:90786 Orphanet:90783 obsolete 46,XY disorder of sex development due to a testosterone synthesis defect -MONDO:0019596 obsolete 46,XY disorder of sex development due to testicular steroidogenesis defect MONDO:0017977 Orphanet:90787 Orphanet:325632 obsolete 46,XY disorder of sex development of gynecological interest -MONDO:0019596 obsolete 46,XY disorder of sex development due to testicular steroidogenesis defect MONDO:0019594 Orphanet:90787 Orphanet:90783 obsolete 46,XY disorder of sex development due to a testosterone synthesis defect MONDO:0019597 obsolete 46,XY disorder of sex development due to isolated 17,20-lyase deficiency MONDO:0000001 Orphanet:90796 Orphanet:377788 disease -MONDO:0019597 obsolete 46,XY disorder of sex development due to isolated 17,20-lyase deficiency MONDO:0019596 Orphanet:90796 Orphanet:90787 obsolete 46,XY disorder of sex development due to testicular steroidogenesis defect -MONDO:0019599 obsolete primary lipodystrophy MONDO:0019296 Orphanet:90970 Orphanet:79382 subcutaneous tissue disorder -MONDO:0019599 obsolete primary lipodystrophy MONDO:0020005 Orphanet:90970 Orphanet:97978 obsolete rare endocrine disease -MONDO:0019600 xeroderma pigmentosum MONDO:0015331 Orphanet:910 Orphanet:139027 obsolete malformation syndrome with skin/mucosae involvement -MONDO:0019600 xeroderma pigmentosum MONDO:0015945 Orphanet:910 Orphanet:183422 obsolete polymalformative genetic syndrome with increased risk of developing cancer -MONDO:0019600 xeroderma pigmentosum MONDO:0019304 Orphanet:910 Orphanet:79390 obsolete rare photodermatosis -MONDO:0019600 xeroderma pigmentosum MONDO:0020045 Orphanet:910 Orphanet:98097 obsolete autosomal recessive cerebellar ataxia due to a DNA repair defect -MONDO:0019600 xeroderma pigmentosum MONDO:0020162 Orphanet:910 Orphanet:98571 obsolete secondary ectropion -MONDO:0019600 xeroderma pigmentosum MONDO:0020225 Orphanet:910 Orphanet:98641 obsolete syndromic cataract -MONDO:0019600 xeroderma pigmentosum MONDO:0031689 Orphanet:910 Orphanet:363245 obsolete genetic progeroid syndrome -MONDO:0019600 xeroderma pigmentosum MONDO:0034926 Orphanet:910 Orphanet:519270 obsolete rare disorder with entropion -MONDO:0019600 xeroderma pigmentosum MONDO:0035862 Orphanet:910 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome -MONDO:0019601 obsolete autosomal recessive axonal hereditary motor and sensory neuropathy MONDO:0018775 Orphanet:91024 Orphanet:476109 obsolete axonal hereditary motor and sensory neuropathy -MONDO:0019602 obsolete other inborn metabolic disease MONDO:0019052 Orphanet:91088 Orphanet:68367 inborn errors of metabolism -MONDO:0019604 acquired monoclonal Ig light chain-associated Fanconi syndrome MONDO:0019744 Orphanet:91136 Orphanet:93603 obsolete rare renal tubular disease -MONDO:0019606 simple cryoglobulinemia MONDO:0015939 Orphanet:91139 Orphanet:182228 obsolete systemic autoimmune disease -MONDO:0019606 simple cryoglobulinemia MONDO:0016178 Orphanet:91139 Orphanet:209010 obsolete peripheral neuropathy associated with monoclonal gammopathy -MONDO:0019606 simple cryoglobulinemia MONDO:0016634 Orphanet:91139 Orphanet:248365 obsolete thrombotic disorder due to an acquired coagulation factors defect -MONDO:0019608 obsolete 46,XX disorder of sex development induced by maternal-derived androgen MONDO:0020039 Orphanet:91144 Orphanet:98078 obsolete 46,XX disorder of sex development induced by androgens excess -MONDO:0019609 Zellweger spectrum disorders MONDO:0016398 Orphanet:912 Orphanet:225686 obsolete peroxisomal disease with epilepsy -MONDO:0019609 Zellweger spectrum disorders MONDO:0019743 Orphanet:912 Orphanet:93593 obsolete nephropathy secondary to a storage or other metabolic disease -MONDO:0019609 Zellweger spectrum disorders MONDO:0020234 Orphanet:912 Orphanet:98650 obsolete craniofacial anomaly with cataract -MONDO:0019609 Zellweger spectrum disorders MONDO:0035863 Orphanet:912 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0019614 pituitary deficiency due to Rathke's pouch cysts MONDO:0019833 Orphanet:91350 Orphanet:95503 obsolete pituitary hormone deficiency from tumoral origin -MONDO:0019615 pituitary dermoid and epidermoid cysts MONDO:0019833 Orphanet:91351 Orphanet:95503 obsolete pituitary hormone deficiency from tumoral origin -MONDO:0019617 pituitary deficiency due to empty sella turcica syndrome MONDO:0019834 Orphanet:91354 Orphanet:95505 obsolete pituitary hormone deficiency from meningeal origin -MONDO:0019618 Sheehan syndrome MONDO:0019841 Orphanet:91355 Orphanet:95611 obsolete pituitary hormone defiency from vascular origin -MONDO:0019618 Sheehan syndrome MONDO:8000032 Orphanet:91355 Orphanet:377789 obsolete malformation syndrome -MONDO:0019619 obsolete duplication of the esophagus MONDO:0015207 Orphanet:91357 Orphanet:108959 obsolete non-syndromic esophageal malformation -MONDO:0019620 congenital esophageal diverticulum MONDO:0015207 Orphanet:91358 Orphanet:108959 obsolete non-syndromic esophageal malformation -MONDO:0019620 congenital esophageal diverticulum MONDO:8000030 Orphanet:91358 Orphanet:377791 obsolete morphological anomaly -MONDO:0019623 hereditary angioedema MONDO:0021198 Orphanet:91378 Orphanet:98053 obsolete rare genetic disease -MONDO:0019625 familial thoracic aortic aneurysm and aortic dissection MONDO:0017311 Orphanet:91387 Orphanet:285014 obsolete rare disease with thoracic aortic aneurysm and aortic dissection -MONDO:0019626 isolated ankyloblepharon filiforme adnatum MONDO:0015501 Orphanet:91397 Orphanet:156237 obsolete syndrome or malformation associated with head and neck malformations -MONDO:0019626 isolated ankyloblepharon filiforme adnatum MONDO:0020155 Orphanet:91397 Orphanet:98564 obsolete eyelid border anomaly -MONDO:0019626 isolated ankyloblepharon filiforme adnatum MONDO:8000030 Orphanet:91397 Orphanet:377791 obsolete morphological anomaly -MONDO:0019627 isolated congenital alacrima MONDO:0020194 Orphanet:91416 Orphanet:98604 obsolete congenital alacrima -MONDO:0019628 Rieger anomaly MONDO:8000030 Orphanet:91483 Orphanet:377791 obsolete morphological anomaly -MONDO:0019629 sclerocornea MONDO:0020219 Orphanet:91490 Orphanet:98635 obsolete corneogoniodysgenesis -MONDO:0019629 sclerocornea MONDO:8000030 Orphanet:91490 Orphanet:377791 obsolete morphological anomaly -MONDO:0019630 congenital ectropion uveae MONDO:8000032 Orphanet:91491 Orphanet:377789 obsolete malformation syndrome -MONDO:0019631 persistent hyperplastic primary vitreous MONDO:0020225 Orphanet:91495 Orphanet:98641 obsolete syndromic cataract -MONDO:0019631 persistent hyperplastic primary vitreous MONDO:0034943 Orphanet:91495 Orphanet:519304 obsolete isolated vitreoretinopathy -MONDO:0019632 Lyme disease MONDO:0015575 Orphanet:91546 Orphanet:163582 obsolete rare bacterial infectious disease -MONDO:0019632 Lyme disease MONDO:0016104 Orphanet:91546 Orphanet:206613 obsolete infectious disease with peripheral neuropathy -MONDO:0019633 relapsing fever MONDO:0015575 Orphanet:91547 Orphanet:163582 obsolete rare bacterial infectious disease -MONDO:0019634 familial nasal acilia MONDO:0020017 Orphanet:922 Orphanet:98036 obsolete rare otorhinolaryngologic disease -MONDO:0019635 idiopathic achalasia MONDO:0015111 Orphanet:930 Orphanet:101936 obsolete gastroesophageal disease -MONDO:0019636 renal agenesis, unilateral MONDO:8000031 Orphanet:93100 Orphanet:557494 obsolete subtype of a disorder -MONDO:0019637 renal hypoplasia MONDO:0019720 Orphanet:93101 Orphanet:93546 obsolete non-syndromic renal or urinary tract malformation -MONDO:0019637 renal hypoplasia MONDO:8000030 Orphanet:93101 Orphanet:377791 obsolete morphological anomaly -MONDO:0019638 renal dysplasia MONDO:0019720 Orphanet:93108 Orphanet:93546 obsolete non-syndromic renal or urinary tract malformation -MONDO:0019638 renal dysplasia MONDO:8000030 Orphanet:93108 Orphanet:377791 obsolete morphological anomaly -MONDO:0019639 congenital megacalycosis MONDO:0019720 Orphanet:93109 Orphanet:93546 obsolete non-syndromic renal or urinary tract malformation -MONDO:0019639 congenital megacalycosis MONDO:8000030 Orphanet:93109 Orphanet:377791 obsolete morphological anomaly -MONDO:0019640 posterior urethral valve MONDO:8000030 Orphanet:93110 Orphanet:377791 obsolete morphological anomaly -MONDO:0019644 renal dysplasia, unilateral MONDO:8000031 Orphanet:93172 Orphanet:557494 obsolete subtype of a disorder -MONDO:0019645 renal dysplasia, bilateral MONDO:8000031 Orphanet:93173 Orphanet:557494 obsolete subtype of a disorder -MONDO:0019646 unilateral congenital megacalycosis MONDO:8000031 Orphanet:93176 Orphanet:557494 obsolete subtype of a disorder -MONDO:0019647 congenital bilateral megacalycosis MONDO:8000031 Orphanet:93177 Orphanet:557494 obsolete subtype of a disorder -MONDO:0019659 Pfeiffer syndrome type 1 MONDO:8000031 Orphanet:93258 Orphanet:557494 obsolete subtype of a disorder -MONDO:0019660 Pfeiffer syndrome type 2 MONDO:8000031 Orphanet:93259 Orphanet:557494 obsolete subtype of a disorder -MONDO:0019661 Pfeiffer syndrome type 3 MONDO:8000031 Orphanet:93260 Orphanet:557494 obsolete subtype of a disorder -MONDO:0019662 short rib-polydactyly syndrome, Majewski type MONDO:8000032 Orphanet:93269 Orphanet:377789 obsolete malformation syndrome -MONDO:0019665 monostotic fibrous dysplasia MONDO:8000031 Orphanet:93277 Orphanet:557494 obsolete subtype of a disorder -MONDO:0019666 spondyloepimetaphyseal dysplasia, PAPSS2 type MONDO:0019688 Orphanet:93282 Orphanet:93423 obsolete sulfation-related bone disorder -MONDO:0019668 adenoma of pancreas MONDO:0015621 Orphanet:93292 Orphanet:165711 obsolete rare abdominal surgical disease -MONDO:0019668 adenoma of pancreas MONDO:0018520 Orphanet:93292 Orphanet:424033 obsolete rare epithelial tumor of pancreas -MONDO:0019669 hypochondrogenesis MONDO:8000031 Orphanet:93297 Orphanet:557494 obsolete subtype of a disorder -MONDO:0019670 ulnar hemimelia MONDO:8000030 Orphanet:93320 Orphanet:377791 obsolete morphological anomaly -MONDO:0019671 radial hemimelia MONDO:8000030 Orphanet:93321 Orphanet:377791 obsolete morphological anomaly -MONDO:0019672 fibular hemimelia MONDO:8000030 Orphanet:93323 Orphanet:377791 obsolete morphological anomaly -MONDO:0019673 postaxial polydactyly type A MONDO:0034670 Orphanet:93334 Orphanet:498467 obsolete non-syndromic postaxial polydactyly -MONDO:0019673 postaxial polydactyly type A MONDO:8000030 Orphanet:93334 Orphanet:377791 obsolete morphological anomaly -MONDO:0019674 postaxial polydactyly type B MONDO:0034670 Orphanet:93335 Orphanet:498467 obsolete non-syndromic postaxial polydactyly -MONDO:0019674 postaxial polydactyly type B MONDO:8000030 Orphanet:93335 Orphanet:377791 obsolete morphological anomaly -MONDO:0019676 brachydactyly type B MONDO:0800093 Orphanet:93383 Orphanet:498451 obsolete dysostosis with brachydactyly without extraskeletal manifestations -MONDO:0019676 brachydactyly type B MONDO:8000032 Orphanet:93383 Orphanet:377789 obsolete malformation syndrome -MONDO:0019677 brachydactyly type E MONDO:0800093 Orphanet:93387 Orphanet:498451 obsolete dysostosis with brachydactyly without extraskeletal manifestations -MONDO:0019677 brachydactyly type E MONDO:8000032 Orphanet:93387 Orphanet:377789 obsolete malformation syndrome -MONDO:0019679 brachydactyly type A7 MONDO:0800093 Orphanet:93397 Orphanet:498451 obsolete dysostosis with brachydactyly without extraskeletal manifestations -MONDO:0019679 brachydactyly type A7 MONDO:8000032 Orphanet:93397 Orphanet:377789 obsolete malformation syndrome -MONDO:0019680 genochondromatosis type 2 MONDO:0800089 Orphanet:93398 Orphanet:93450 obsolete primary bone dysplasia with disorganized development of skeletal components -MONDO:0019681 juvenile sialidosis type 2 MONDO:8000031 Orphanet:93399 Orphanet:557494 obsolete subtype of a disorder -MONDO:0019682 congenital sialidosis type 2 MONDO:8000031 Orphanet:93400 Orphanet:557494 obsolete subtype of a disorder -MONDO:0019684 obsolete rare bone disease MONDO:8000033 Orphanet:93419 Orphanet:557492 obsolete group of disorders -MONDO:0019685 FGFR3-related chondrodysplasia MONDO:0031799 Orphanet:93420 Orphanet:364803 obsolete rare bone disease related to a common gene or pathway defect -MONDO:0019688 obsolete sulfation-related bone disorder MONDO:0031799 Orphanet:93423 Orphanet:364803 obsolete rare bone disease related to a common gene or pathway defect -MONDO:0019689 obsolete perlecan-related bone disorder MONDO:0031799 Orphanet:93424 Orphanet:364803 obsolete rare bone disease related to a common gene or pathway defect -MONDO:0019690 filamin-related bone disorder MONDO:0031799 Orphanet:93425 Orphanet:364803 obsolete rare bone disease related to a common gene or pathway defect -MONDO:0019691 short rib dysplasia MONDO:0031799 Orphanet:93426 Orphanet:364803 obsolete rare bone disease related to a common gene or pathway defect -MONDO:0019692 obsolete multiple epiphyseal dysplasia and pseudoachondroplasia MONDO:0018230 Orphanet:93429 Orphanet:364526 skeletal dysplasia -MONDO:0019693 obsolete multiple metaphyseal dysplasia MONDO:0018230 Orphanet:93430 Orphanet:364526 skeletal dysplasia -MONDO:0019697 obsolete mesomelic and rhizo-mesomelic dysplasia MONDO:0018230 Orphanet:93438 Orphanet:364526 skeletal dysplasia -MONDO:0019699 obsolete slender bone dysplasia MONDO:0018230 Orphanet:93440 Orphanet:364526 skeletal dysplasia -MONDO:0019702 neonatal osteosclerotic dysplasia MONDO:0800084 Orphanet:93443 Orphanet:93444 obsolete primary bone dysplasia with increased bone density -MONDO:0019704 obsolete primary bone dysplasia with decreased bone density MONDO:0018230 Orphanet:93446 Orphanet:364526 skeletal dysplasia -MONDO:0019705 obsolete primary bone dysplasia with defective bone mineralization MONDO:0018230 Orphanet:93447 Orphanet:364526 skeletal dysplasia -MONDO:0019709 obsolete cleidocranial dysplasia and isolated cranial ossification defect MONDO:0018230 Orphanet:93451 Orphanet:364526 skeletal dysplasia -MONDO:0019711 obsolete dysostosis with predominant vertebral and costal involvement MONDO:0018234 Orphanet:93454 Orphanet:364559 dysostosis -MONDO:0019711 obsolete dysostosis with predominant vertebral and costal involvement MONDO:0018454 Orphanet:93454 Orphanet:404568 obsolete dysostosis of genetic origin -MONDO:0019712 obsolete patellar dysostosis MONDO:0018234 Orphanet:93455 Orphanet:364559 dysostosis -MONDO:0019712 obsolete patellar dysostosis MONDO:0018454 Orphanet:93455 Orphanet:404568 obsolete dysostosis of genetic origin -MONDO:0019713 non-syndromic limb reduction defect MONDO:0015227 Orphanet:93457 Orphanet:109011 obsolete non-syndromic limb malformation -MONDO:0019713 non-syndromic limb reduction defect MONDO:0018235 Orphanet:93457 Orphanet:364568 obsolete dysostosis with limb anomaly as a major feature -MONDO:0019713 non-syndromic limb reduction defect MONDO:0018455 Orphanet:93457 Orphanet:404571 obsolete dysostosis of genetic origin with limb anomaly as a major feature -MONDO:0019714 obsolete non-syndromic polydactyly, syndactyly and/or hyperphalangy MONDO:0015227 Orphanet:93458 Orphanet:109011 obsolete non-syndromic limb malformation -MONDO:0019714 obsolete non-syndromic polydactyly, syndactyly and/or hyperphalangy MONDO:0018235 Orphanet:93458 Orphanet:364568 obsolete dysostosis with limb anomaly as a major feature -MONDO:0019714 obsolete non-syndromic polydactyly, syndactyly and/or hyperphalangy MONDO:0018455 Orphanet:93458 Orphanet:404571 obsolete dysostosis of genetic origin with limb anomaly as a major feature -MONDO:0019716 overgrowth syndrome MONDO:0015330 Orphanet:93460 Orphanet:139024 obsolete overgrowth/obesity syndrome -MONDO:0019716 overgrowth syndrome MONDO:0026188 Orphanet:93460 Orphanet:183573 obsolete genetic overgrowth/obesity syndrome -MONDO:0019717 obsolete chromosomal disease with overgrowth MONDO:0019716 Orphanet:93461 Orphanet:93460 overgrowth syndrome -MONDO:0019718 obsolete lethal chondrodysplasia MONDO:0018230 Orphanet:93465 Orphanet:364526 skeletal dysplasia -MONDO:0019719 congenital anomaly of kidney and urinary tract MONDO:0019750 Orphanet:93545 Orphanet:93626 obsolete rare renal disease -MONDO:0019720 obsolete non-syndromic renal or urinary tract malformation MONDO:0019719 Orphanet:93546 Orphanet:93545 congenital anomaly of kidney and urinary tract -MONDO:0019721 obsolete syndromic renal or urinary tract malformation MONDO:0019719 Orphanet:93547 Orphanet:93545 congenital anomaly of kidney and urinary tract -MONDO:0019721 obsolete syndromic renal or urinary tract malformation MONDO:0026181 Orphanet:93547 Orphanet:183539 obsolete genetic renal or urinary tract malformation -MONDO:0019722 glomerular disorder MONDO:0019750 Orphanet:93548 Orphanet:93626 obsolete rare renal disease -MONDO:0019725 pediatric systemic lupus erythematosus MONDO:0015657 Orphanet:93552 Orphanet:166484 obsolete inflammatory and autoimmune disease with epilepsy -MONDO:0019725 pediatric systemic lupus erythematosus MONDO:0015939 Orphanet:93552 Orphanet:182228 obsolete systemic autoimmune disease -MONDO:0019725 pediatric systemic lupus erythematosus MONDO:0017021 Orphanet:93552 Orphanet:264704 obsolete secondary interstitial lung disease specific to childhood associated with a connective tissue disease -MONDO:0019726 type II mixed cryoglobulinemia MONDO:8000031 Orphanet:93554 Orphanet:557494 obsolete subtype of a disorder -MONDO:0019727 mixed cryoglobulinemia type III MONDO:8000031 Orphanet:93555 Orphanet:557494 obsolete subtype of a disorder -MONDO:0019728 heavy chain deposition disease MONDO:8000031 Orphanet:93556 Orphanet:557494 obsolete subtype of a disorder -MONDO:0019729 light and heavy chain deposition disease MONDO:8000031 Orphanet:93557 Orphanet:557494 obsolete subtype of a disorder -MONDO:0019730 light chain deposition disease MONDO:8000031 Orphanet:93558 Orphanet:557494 obsolete subtype of a disorder -MONDO:0019731 AApoAI amyloidosis MONDO:8000031 Orphanet:93560 Orphanet:557494 obsolete subtype of a disorder -MONDO:0019732 ALys amyloidosis MONDO:8000031 Orphanet:93561 Orphanet:557494 obsolete subtype of a disorder -MONDO:0019733 AFib amyloidosis MONDO:8000031 Orphanet:93562 Orphanet:557494 obsolete subtype of a disorder -MONDO:0019734 juvenile polymyositis MONDO:0017021 Orphanet:93568 Orphanet:264704 obsolete secondary interstitial lung disease specific to childhood associated with a connective tissue disease -MONDO:0019735 polymyalgia rheumatica MONDO:0015940 Orphanet:93569 Orphanet:182231 obsolete rare rheumatologic disease -MONDO:0019737 thrombotic microangiopathy MONDO:0019750 Orphanet:93573 Orphanet:93626 obsolete rare renal disease -MONDO:0019739 atypical hemolytic-uremic syndrome with anti-factor H antibodies MONDO:8000031 Orphanet:93581 Orphanet:557494 obsolete subtype of a disorder -MONDO:0019740 acquired thrombotic thrombocytopenic purpura MONDO:8000031 Orphanet:93585 Orphanet:557494 obsolete subtype of a disorder -MONDO:0019741 familial cystic renal disease MONDO:0019750 Orphanet:93587 Orphanet:93626 obsolete rare renal disease -MONDO:0019741 familial cystic renal disease MONDO:0020030 Orphanet:93587 Orphanet:98056 obsolete rare genetic renal disease -MONDO:0019742 late-onset nephronophthisis MONDO:8000031 Orphanet:93589 Orphanet:557494 obsolete subtype of a disorder -MONDO:0019743 obsolete nephropathy secondary to a storage or other metabolic disease MONDO:0019750 Orphanet:93593 Orphanet:93626 obsolete rare renal disease -MONDO:0019743 obsolete nephropathy secondary to a storage or other metabolic disease MONDO:0020030 Orphanet:93593 Orphanet:98056 obsolete rare genetic renal disease -MONDO:0019744 obsolete rare renal tubular disease MONDO:0019750 Orphanet:93603 Orphanet:93626 obsolete rare renal disease -MONDO:0019745 cystinuria type A MONDO:8000031 Orphanet:93612 Orphanet:557494 obsolete subtype of a disorder -MONDO:0019746 cystinuria type B MONDO:8000031 Orphanet:93613 Orphanet:557494 obsolete subtype of a disorder -MONDO:0019747 obsolete hematological disorder with renal involvement MONDO:0019750 Orphanet:93614 Orphanet:93626 obsolete rare renal disease -MONDO:0019747 obsolete hematological disorder with renal involvement MONDO:0020030 Orphanet:93614 Orphanet:98056 obsolete rare genetic renal disease -MONDO:0019748 obsolete rare cause of hypertension MONDO:0019750 Orphanet:93618 Orphanet:93626 obsolete rare renal disease -MONDO:0019748 obsolete rare cause of hypertension MONDO:0020015 Orphanet:93618 Orphanet:98028 obsolete rare circulatory system disease -MONDO:0019749 obsolete rare renal tumor MONDO:0019750 Orphanet:93619 Orphanet:93626 obsolete rare renal disease -MONDO:0019749 obsolete rare renal tumor MONDO:0020031 Orphanet:93619 Orphanet:98057 obsolete rare tumor -MONDO:0019750 obsolete rare renal disease MONDO:8000033 Orphanet:93626 Orphanet:557492 obsolete group of disorders -MONDO:0019751 autoinflammatory syndrome MONDO:0015940 Orphanet:93665 Orphanet:182231 obsolete rare rheumatologic disease -MONDO:0019753 localized Castleman disease MONDO:8000031 Orphanet:93685 Orphanet:557494 obsolete subtype of a disorder -MONDO:0019754 multicentric Castleman disease MONDO:8000031 Orphanet:570438 Orphanet:557494 obsolete subtype of a disorder -MONDO:0019755 developmental defect during embryogenesis MONDO:8000033 Orphanet:93890 Orphanet:557492 obsolete group of disorders -MONDO:0019756 lobar holoprosencephaly MONDO:8000031 Orphanet:93924 Orphanet:557494 obsolete subtype of a disorder -MONDO:0019757 alobar holoprosencephaly MONDO:8000031 Orphanet:93925 Orphanet:557494 obsolete subtype of a disorder -MONDO:0019758 obsolete midline interhemispheric variant of holoprosencephaly MONDO:0016296 Orphanet:93926 Orphanet:2162 holoprosencephaly -MONDO:0019758 obsolete midline interhemispheric variant of holoprosencephaly MONDO:8000031 Orphanet:93926 Orphanet:557494 obsolete subtype of a disorder -MONDO:0019759 epispadias MONDO:8000031 Orphanet:93928 Orphanet:557494 obsolete subtype of a disorder -MONDO:0019761 laryngotracheoesophageal cleft type 1 MONDO:8000031 Orphanet:93938 Orphanet:557494 obsolete subtype of a disorder -MONDO:0019762 laryngotracheoesophageal cleft type 2 MONDO:8000031 Orphanet:93939 Orphanet:557494 obsolete subtype of a disorder -MONDO:0019763 laryngotracheoesophageal cleft type 3 MONDO:8000031 Orphanet:93940 Orphanet:557494 obsolete subtype of a disorder -MONDO:0019764 laryngotracheoesophageal cleft type 4 MONDO:8000031 Orphanet:93941 Orphanet:557494 obsolete subtype of a disorder -MONDO:0019766 X-linked intellectual disability, Porteous type MONDO:8000031 Orphanet:93945 Orphanet:557494 obsolete subtype of a disorder -MONDO:0019767 hamel cerebro-palato-cardiac syndrome MONDO:8000031 Orphanet:93946 Orphanet:557494 obsolete subtype of a disorder -MONDO:0019768 X-linked intellectual disability, Golabi-Ito-hall type MONDO:8000031 Orphanet:93947 Orphanet:557494 obsolete subtype of a disorder -MONDO:0019769 X-linked intellectual disability, Sutherland-Haan type MONDO:8000031 Orphanet:93950 Orphanet:557494 obsolete subtype of a disorder -MONDO:0019773 myelomeningocele MONDO:8000030 Orphanet:93969 Orphanet:377791 obsolete morphological anomaly -MONDO:0019780 anotia MONDO:0015502 Orphanet:93976 Orphanet:156243 obsolete pinnae and external auditory canal anomaly -MONDO:0019780 anotia MONDO:8000030 Orphanet:93976 Orphanet:377791 obsolete morphological anomaly -MONDO:0019782 humero-ulnar synostosis MONDO:0017429 Orphanet:94056 Orphanet:294949 obsolete joint formation defects -MONDO:0019782 humero-ulnar synostosis MONDO:8000030 Orphanet:94056 Orphanet:377791 obsolete morphological anomaly -MONDO:0019783 neovascular glaucoma MONDO:0020216 Orphanet:94058 Orphanet:98631 obsolete secondary dysgenetic glaucoma -MONDO:0019783 neovascular glaucoma MONDO:0032014 Orphanet:94058 Orphanet:377793 obsolete particular clinical situation in a disease or syndrome -MONDO:0019784 12q14 microdeletion syndrome MONDO:0035863 Orphanet:94063 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0019784 12q14 microdeletion syndrome MONDO:8000032 Orphanet:94063 Orphanet:377789 obsolete malformation syndrome -MONDO:0019786 severe intellectual disability-epilepsy-anal anomalies-distal phalangeal hypoplasia MONDO:0035863 Orphanet:94066 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0019786 severe intellectual disability-epilepsy-anal anomalies-distal phalangeal hypoplasia MONDO:8000032 Orphanet:94066 Orphanet:377789 obsolete malformation syndrome -MONDO:0019787 autoimmune enteropathy MONDO:0015245 Orphanet:94075 Orphanet:117569 obsolete rare intestinal disease -MONDO:0019790 neuroleptic malignant syndrome MONDO:0018753 Orphanet:94093 Orphanet:466658 obsolete rare disease with malignant hyperthermia -MONDO:0019795 acalvaria MONDO:0020018 Orphanet:945 Orphanet:98038 obsolete cranial malformation -MONDO:0019795 acalvaria MONDO:8000032 Orphanet:945 Orphanet:377789 obsolete malformation syndrome -MONDO:0019797 acrodysostosis MONDO:8000032 Orphanet:950 Orphanet:377789 obsolete malformation syndrome -MONDO:0019799 hepatoerythropoietic porphyria MONDO:0019800 Orphanet:95159 Orphanet:95161 obsolete chronic hepatic porphyria -MONDO:0019800 obsolete chronic hepatic porphyria MONDO:0015115 Orphanet:95161 Orphanet:101940 obsolete rare genetic metabolic liver disease -MONDO:0019800 obsolete chronic hepatic porphyria MONDO:0019142 Orphanet:95161 Orphanet:738 inherited porphyria -MONDO:0019801 acute adrenal insufficiency MONDO:0032013 Orphanet:95409 Orphanet:377792 obsolete clinical syndrome -MONDO:0019803 angioma serpiginosum MONDO:0015948 Orphanet:95429 Orphanet:183478 obsolete rare genetic skin vascular disorder -MONDO:0019804 tracheomalacia MONDO:0015221 Orphanet:95430 Orphanet:108993 obsolete non-syndromic respiratory or mediastinal malformation -MONDO:0019804 tracheomalacia MONDO:0015505 Orphanet:95430 Orphanet:156252 obsolete tracheal anomaly -MONDO:0019804 tracheomalacia MONDO:0015930 Orphanet:95430 Orphanet:182111 obsolete respiratory malformation -MONDO:0019804 tracheomalacia MONDO:0033336 Orphanet:95430 Orphanet:435612 obsolete genetic tracheal anomaly -MONDO:0019804 tracheomalacia MONDO:8000030 Orphanet:95430 Orphanet:377791 obsolete morphological anomaly -MONDO:0019805 twin to twin transfusion syndrome MONDO:0020008 Orphanet:95431 Orphanet:98004 obsolete rare immune disease -MONDO:0019806 primary progressive aphasia MONDO:0020136 Orphanet:95432 Orphanet:98534 obsolete neurodegenerative disease with dementia -MONDO:0019807 mesocardia MONDO:0020284 Orphanet:95443 Orphanet:98716 obsolete heart position anomaly -MONDO:0019807 mesocardia MONDO:8000030 Orphanet:95443 Orphanet:377791 obsolete morphological anomaly -MONDO:0019808 aortic valve atresia MONDO:8000031 Orphanet:95448 Orphanet:557494 obsolete subtype of a disorder -MONDO:0019811 tricuspid valve agenesis MONDO:8000030 Orphanet:95457 Orphanet:377791 obsolete morphological anomaly -MONDO:0019813 congenital tricuspid stenosis MONDO:8000030 Orphanet:95459 Orphanet:377791 obsolete morphological anomaly -MONDO:0019814 straddling or overriding tricuspid valve MONDO:8000030 Orphanet:95461 Orphanet:377791 obsolete morphological anomaly -MONDO:0019815 accessory tricuspid valve tissue MONDO:8000030 Orphanet:95462 Orphanet:377791 obsolete morphological anomaly -MONDO:0019816 obsolete anomaly of the tricuspid subvalvular apparatus MONDO:0020289 Orphanet:95463 Orphanet:98721 congenital tricuspid malformation -MONDO:0019818 cleft mitral valve MONDO:8000030 Orphanet:95465 Orphanet:377791 obsolete morphological anomaly -MONDO:0019819 double-orifice mitral valve MONDO:8000031 Orphanet:95474 Orphanet:557494 obsolete subtype of a disorder -MONDO:0019822 obsolete arterial duct anomaly MONDO:0020292 Orphanet:95485 Orphanet:98724 congenital anomaly of the great arteries -MONDO:0019823 premature closure of the arterial duct MONDO:0019822 Orphanet:95486 Orphanet:95485 obsolete arterial duct anomaly -MONDO:0019823 premature closure of the arterial duct MONDO:8000030 Orphanet:95486 Orphanet:377791 obsolete morphological anomaly -MONDO:0019824 non-acquired pituitary hormone deficiency MONDO:0019590 Orphanet:95488 Orphanet:90692 obsolete rare endocrine growth disease -MONDO:0019825 congenital coronary artery aneurysm MONDO:8000030 Orphanet:95491 Orphanet:377791 obsolete morphological anomaly -MONDO:0019827 obsolete disease associated with non-acquired combined pituitary hormone deficiency MONDO:0018762 Orphanet:95495 Orphanet:467 non-acquired combined pituitary hormone deficiency -MONDO:0019828 pituitary stalk interruption syndrome MONDO:0035862 Orphanet:95496 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome -MONDO:0019828 pituitary stalk interruption syndrome MONDO:8000030 Orphanet:95496 Orphanet:377791 obsolete morphological anomaly -MONDO:0019829 congenital anomaly of superior vena cava MONDO:0017710 Orphanet:95498 Orphanet:3091 obsolete congenital systemic veins anomaly -MONDO:0019830 congenital anomaly of the inferior vena cava MONDO:0017710 Orphanet:95499 Orphanet:3091 obsolete congenital systemic veins anomaly -MONDO:0019831 obsolete congenital anomaly of the coronary sinus MONDO:0017710 Orphanet:95500 Orphanet:3091 obsolete congenital systemic veins anomaly -MONDO:0019833 obsolete pituitary hormone deficiency from tumoral origin MONDO:0019832 Orphanet:95503 Orphanet:95502 acquired pituitary hormone deficiency -MONDO:0019834 obsolete pituitary hormone deficiency from meningeal origin MONDO:0019832 Orphanet:95505 Orphanet:95502 acquired pituitary hormone deficiency -MONDO:0019836 congenital anomaly of hepatic vein MONDO:0015113 Orphanet:95507 Orphanet:101938 obsolete rare vascular liver disease -MONDO:0019836 congenital anomaly of hepatic vein MONDO:0017710 Orphanet:95507 Orphanet:3091 obsolete congenital systemic veins anomaly -MONDO:0019836 congenital anomaly of hepatic vein MONDO:8000030 Orphanet:95507 Orphanet:377791 obsolete morphological anomaly -MONDO:0019837 obsolete atrial appendage anomaly MONDO:0020294 Orphanet:95510 Orphanet:98727 obsolete atrial defect and interatrial communication -MONDO:0019841 obsolete pituitary hormone defiency from vascular origin MONDO:0019832 Orphanet:95611 Orphanet:95502 acquired pituitary hormone deficiency -MONDO:0019843 obsolete pituitary hormone deficiency secondary to a granulomatous disease MONDO:0019832 Orphanet:95617 Orphanet:95502 acquired pituitary hormone deficiency -MONDO:0019844 obsolete pituitary hormone deficiency secondary to storage disease MONDO:0019832 Orphanet:95618 Orphanet:95502 acquired pituitary hormone deficiency -MONDO:0019846 acquired central diabetes insipidus MONDO:8000031 Orphanet:95626 Orphanet:557494 obsolete subtype of a disorder -MONDO:0019848 posterior hypospadias MONDO:0015933 Orphanet:95706 Orphanet:182121 obsolete non-syndromic urogenital tract malformation of male -MONDO:0019848 posterior hypospadias MONDO:0024987 Orphanet:95706 Orphanet:156622 obsolete genetic urogenital tract malformation -MONDO:0019848 posterior hypospadias MONDO:8000030 Orphanet:95706 Orphanet:377791 obsolete morphological anomaly -MONDO:0019849 isolated micropenis MONDO:0015933 Orphanet:95707 Orphanet:182121 obsolete non-syndromic urogenital tract malformation of male -MONDO:0019849 isolated micropenis MONDO:8000030 Orphanet:95707 Orphanet:377791 obsolete morphological anomaly -MONDO:0019851 acquired primary ovarian failure MONDO:0015860 Orphanet:95709 Orphanet:180208 obsolete anomaly of puberty or/and menstrual cycle -MONDO:0019851 acquired primary ovarian failure MONDO:0019590 Orphanet:95709 Orphanet:90692 obsolete rare endocrine growth disease -MONDO:0019852 inherited primary ovarian failure MONDO:0015860 Orphanet:95710 Orphanet:180208 obsolete anomaly of puberty or/and menstrual cycle -MONDO:0019852 inherited primary ovarian failure MONDO:0019590 Orphanet:95710 Orphanet:90692 obsolete rare endocrine growth disease -MONDO:0019853 obsolete congenital hypothyroidism due to developmental anomaly MONDO:0016409 Orphanet:95711 Orphanet:226295 obsolete primary congenital hypothyroidism -MONDO:0019854 thyroid ectopia MONDO:0019853 Orphanet:95712 Orphanet:95711 obsolete congenital hypothyroidism due to developmental anomaly -MONDO:0019854 thyroid ectopia MONDO:8000030 Orphanet:95712 Orphanet:377791 obsolete morphological anomaly -MONDO:0019855 athyreosis MONDO:0019853 Orphanet:95713 Orphanet:95711 obsolete congenital hypothyroidism due to developmental anomaly -MONDO:0019855 athyreosis MONDO:8000030 Orphanet:95713 Orphanet:377791 obsolete morphological anomaly -MONDO:0019856 obsolete primary congenital hypothyroidism without thyroid developmental anomaly MONDO:0016409 Orphanet:95714 Orphanet:226295 obsolete primary congenital hypothyroidism -MONDO:0019858 idiopathic congenital hypothyroidism MONDO:0019856 Orphanet:95717 Orphanet:95714 obsolete primary congenital hypothyroidism without thyroid developmental anomaly -MONDO:0019859 obsolete congenital thyroid malformation without hypothyroidism MONDO:0015125 Orphanet:95718 Orphanet:101955 obsolete rare thyroid disease -MONDO:0019860 thyroid hemiagenesis MONDO:0019853 Orphanet:95719 Orphanet:95711 obsolete congenital hypothyroidism due to developmental anomaly -MONDO:0019860 thyroid hemiagenesis MONDO:0019859 Orphanet:95719 Orphanet:95718 obsolete congenital thyroid malformation without hypothyroidism -MONDO:0019860 thyroid hemiagenesis MONDO:8000030 Orphanet:95719 Orphanet:377791 obsolete morphological anomaly -MONDO:0019861 thyroid hypoplasia MONDO:0019853 Orphanet:95720 Orphanet:95711 obsolete congenital hypothyroidism due to developmental anomaly -MONDO:0019861 thyroid hypoplasia MONDO:0019859 Orphanet:95720 Orphanet:95718 obsolete congenital thyroid malformation without hypothyroidism -MONDO:0019861 thyroid hypoplasia MONDO:8000030 Orphanet:95720 Orphanet:377791 obsolete morphological anomaly -MONDO:0019862 levocardia MONDO:8000030 Orphanet:95854 Orphanet:377791 obsolete morphological anomaly -MONDO:0019864 tetrasomy 21 MONDO:0020052 Orphanet:96055 Orphanet:98132 obsolete partial autosomal trisomy/tetrasomy -MONDO:0019864 tetrasomy 21 MONDO:8000032 Orphanet:96055 Orphanet:377789 obsolete malformation syndrome -MONDO:0019865 mosaic trisomy 4 MONDO:0020051 Orphanet:96059 Orphanet:98131 obsolete total autosomal trisomy -MONDO:0019865 mosaic trisomy 4 MONDO:8000032 Orphanet:96059 Orphanet:377789 obsolete malformation syndrome -MONDO:0019866 mosaic trisomy 5 MONDO:0020051 Orphanet:96060 Orphanet:98131 obsolete total autosomal trisomy -MONDO:0019866 mosaic trisomy 5 MONDO:8000032 Orphanet:96060 Orphanet:377789 obsolete malformation syndrome -MONDO:0019867 mosaic trisomy 8 MONDO:0020051 Orphanet:96061 Orphanet:98131 obsolete total autosomal trisomy -MONDO:0019867 mosaic trisomy 8 MONDO:8000032 Orphanet:96061 Orphanet:377789 obsolete malformation syndrome -MONDO:0019868 mosaic trisomy 10 MONDO:0020051 Orphanet:96063 Orphanet:98131 obsolete total autosomal trisomy -MONDO:0019868 mosaic trisomy 10 MONDO:8000032 Orphanet:96063 Orphanet:377789 obsolete malformation syndrome -MONDO:0019869 mosaic trisomy 22 MONDO:0020051 Orphanet:96068 Orphanet:98131 obsolete total autosomal trisomy -MONDO:0019869 mosaic trisomy 22 MONDO:8000032 Orphanet:96068 Orphanet:377789 obsolete malformation syndrome -MONDO:0019870 distal trisomy 1p36 MONDO:8000032 Orphanet:96069 Orphanet:377789 obsolete malformation syndrome -MONDO:0019871 distal trisomy 2p MONDO:0020226 Orphanet:96070 Orphanet:98642 obsolete chromosomal anomaly with cataract -MONDO:0019871 distal trisomy 2p MONDO:8000032 Orphanet:96070 Orphanet:377789 obsolete malformation syndrome -MONDO:0019872 distal trisomy 3p MONDO:8000032 Orphanet:96071 Orphanet:377789 obsolete malformation syndrome -MONDO:0019873 4p16.3 microduplication syndrome MONDO:0019717 Orphanet:96072 Orphanet:93461 obsolete chromosomal disease with overgrowth -MONDO:0019873 4p16.3 microduplication syndrome MONDO:8000032 Orphanet:96072 Orphanet:377789 obsolete malformation syndrome -MONDO:0019874 distal trisomy 7p MONDO:8000032 Orphanet:96074 Orphanet:377789 obsolete malformation syndrome -MONDO:0019875 Beckwith-Wiedemann syndrome due to 11p15 microduplication MONDO:8000031 Orphanet:96076 Orphanet:557494 obsolete subtype of a disorder -MONDO:0019876 8p inverted duplication/deletion syndrome MONDO:0016998 Orphanet:96092 Orphanet:263708 obsolete complex chromosomal rearrangement -MONDO:0019876 8p inverted duplication/deletion syndrome MONDO:8000032 Orphanet:96092 Orphanet:377789 obsolete malformation syndrome -MONDO:0019877 distal trisomy 2q MONDO:8000032 Orphanet:96094 Orphanet:377789 obsolete malformation syndrome -MONDO:0019878 3q26 microduplication syndrome MONDO:0020226 Orphanet:96095 Orphanet:98642 obsolete chromosomal anomaly with cataract -MONDO:0019878 3q26 microduplication syndrome MONDO:8000032 Orphanet:96095 Orphanet:377789 obsolete malformation syndrome -MONDO:0019879 distal trisomy 4q MONDO:8000032 Orphanet:96096 Orphanet:377789 obsolete malformation syndrome -MONDO:0019880 distal trisomy 5q MONDO:8000032 Orphanet:96097 Orphanet:377789 obsolete malformation syndrome -MONDO:0019881 distal trisomy 6q MONDO:8000032 Orphanet:96098 Orphanet:377789 obsolete malformation syndrome -MONDO:0019882 distal trisomy 8q MONDO:8000032 Orphanet:96100 Orphanet:377789 obsolete malformation syndrome -MONDO:0019883 distal trisomy 9q MONDO:8000032 Orphanet:96101 Orphanet:377789 obsolete malformation syndrome -MONDO:0019884 distal trisomy 10q MONDO:0020226 Orphanet:96102 Orphanet:98642 obsolete chromosomal anomaly with cataract -MONDO:0019884 distal trisomy 10q MONDO:8000032 Orphanet:96102 Orphanet:377789 obsolete malformation syndrome -MONDO:0019885 distal trisomy 11q MONDO:8000032 Orphanet:96103 Orphanet:377789 obsolete malformation syndrome -MONDO:0019886 distal trisomy 13q MONDO:8000032 Orphanet:96105 Orphanet:377789 obsolete malformation syndrome -MONDO:0019887 distal trisomy 16q MONDO:8000032 Orphanet:96106 Orphanet:377789 obsolete malformation syndrome -MONDO:0019888 distal trisomy 20q MONDO:8000032 Orphanet:96107 Orphanet:377789 obsolete malformation syndrome -MONDO:0019889 distal trisomy 22q MONDO:8000032 Orphanet:96109 Orphanet:377789 obsolete malformation syndrome -MONDO:0019890 non-distal trisomy 9q MONDO:8000032 Orphanet:96112 Orphanet:377789 obsolete malformation syndrome -MONDO:0019891 monosomy 22 MONDO:0020053 Orphanet:96123 Orphanet:98141 obsolete total autosomal monosomy -MONDO:0019891 monosomy 22 MONDO:8000032 Orphanet:96123 Orphanet:377789 obsolete malformation syndrome -MONDO:0019892 distal monosomy 7p MONDO:8000032 Orphanet:96126 Orphanet:377789 obsolete malformation syndrome -MONDO:0019893 distal monosomy 19p13.3 MONDO:8000032 Orphanet:96129 Orphanet:377789 obsolete malformation syndrome -MONDO:0019895 distal monosomy 4q MONDO:8000032 Orphanet:96145 Orphanet:377789 obsolete malformation syndrome -MONDO:0019896 Kleefstra syndrome due to 9q34 microdeletion MONDO:0015652 Orphanet:96147 Orphanet:166469 obsolete chromosomal anomaly with epilepsy as a major feature -MONDO:0019896 Kleefstra syndrome due to 9q34 microdeletion MONDO:8000031 Orphanet:96147 Orphanet:557494 obsolete subtype of a disorder -MONDO:0019897 distal monosomy 12q MONDO:8000032 Orphanet:96149 Orphanet:377789 obsolete malformation syndrome -MONDO:0019898 distal monosomy 14q MONDO:8000032 Orphanet:96150 Orphanet:377789 obsolete malformation syndrome -MONDO:0019900 non-distal monosomy 12q MONDO:8000032 Orphanet:96160 Orphanet:377789 obsolete malformation syndrome -MONDO:0019902 monosomy 13q34 MONDO:0020226 Orphanet:96168 Orphanet:98642 obsolete chromosomal anomaly with cataract -MONDO:0019902 monosomy 13q34 MONDO:8000032 Orphanet:96168 Orphanet:377789 obsolete malformation syndrome -MONDO:0019903 ring chromosome 2 MONDO:0018186 Orphanet:96171 Orphanet:363203 obsolete ring chromosome -MONDO:0019903 ring chromosome 2 MONDO:8000032 Orphanet:96171 Orphanet:377789 obsolete malformation syndrome -MONDO:0019904 ring chromosome 3 MONDO:0018186 Orphanet:96172 Orphanet:363203 obsolete ring chromosome -MONDO:0019904 ring chromosome 3 MONDO:8000032 Orphanet:96172 Orphanet:377789 obsolete malformation syndrome -MONDO:0019905 ring chromosome 9 MONDO:0018186 Orphanet:96173 Orphanet:363203 obsolete ring chromosome -MONDO:0019905 ring chromosome 9 MONDO:8000032 Orphanet:96173 Orphanet:377789 obsolete malformation syndrome -MONDO:0019906 ring chromosome 11 MONDO:0018186 Orphanet:96175 Orphanet:363203 obsolete ring chromosome -MONDO:0019906 ring chromosome 11 MONDO:8000032 Orphanet:96175 Orphanet:377789 obsolete malformation syndrome -MONDO:0019907 ring chromosome 13 MONDO:0015246 Orphanet:96176 Orphanet:117573 obsolete syndromic anorectal malformation -MONDO:0019907 ring chromosome 13 MONDO:0018186 Orphanet:96176 Orphanet:363203 obsolete ring chromosome -MONDO:0019907 ring chromosome 13 MONDO:8000032 Orphanet:96176 Orphanet:377789 obsolete malformation syndrome -MONDO:0019908 ring chromosome 15 MONDO:0018186 Orphanet:96177 Orphanet:363203 obsolete ring chromosome -MONDO:0019908 ring chromosome 15 MONDO:8000032 Orphanet:96177 Orphanet:377789 obsolete malformation syndrome -MONDO:0019909 ring chromosome 16 MONDO:0018186 Orphanet:96178 Orphanet:363203 obsolete ring chromosome -MONDO:0019909 ring chromosome 16 MONDO:8000032 Orphanet:96178 Orphanet:377789 obsolete malformation syndrome -MONDO:0019910 maternal uniparental disomy of chromosome 2 MONDO:0020056 Orphanet:96179 Orphanet:98153 obsolete uniparental disomy of maternal origin -MONDO:0019910 maternal uniparental disomy of chromosome 2 MONDO:8000032 Orphanet:96179 Orphanet:377789 obsolete malformation syndrome -MONDO:0019911 maternal uniparental disomy of chromosome 4 MONDO:0020056 Orphanet:96180 Orphanet:98153 obsolete uniparental disomy of maternal origin -MONDO:0019911 maternal uniparental disomy of chromosome 4 MONDO:8000032 Orphanet:96180 Orphanet:377789 obsolete malformation syndrome -MONDO:0019912 maternal uniparental disomy of chromosome 6 MONDO:0020056 Orphanet:96181 Orphanet:98153 obsolete uniparental disomy of maternal origin -MONDO:0019912 maternal uniparental disomy of chromosome 6 MONDO:8000032 Orphanet:96181 Orphanet:377789 obsolete malformation syndrome -MONDO:0019913 silver-Russell syndrome due to maternal uniparental disomy of chromosome 7 MONDO:0020056 Orphanet:96182 Orphanet:98153 obsolete uniparental disomy of maternal origin -MONDO:0019913 silver-Russell syndrome due to maternal uniparental disomy of chromosome 7 MONDO:8000031 Orphanet:96182 Orphanet:557494 obsolete subtype of a disorder -MONDO:0019914 maternal uniparental disomy of chromosome 9 MONDO:0020056 Orphanet:96183 Orphanet:98153 obsolete uniparental disomy of maternal origin -MONDO:0019914 maternal uniparental disomy of chromosome 9 MONDO:8000032 Orphanet:96183 Orphanet:377789 obsolete malformation syndrome -MONDO:0019915 maternal uniparental disomy of chromosome 14 MONDO:0020056 Orphanet:96184 Orphanet:98153 obsolete uniparental disomy of maternal origin -MONDO:0019915 maternal uniparental disomy of chromosome 14 MONDO:8000031 Orphanet:96184 Orphanet:557494 obsolete subtype of a disorder -MONDO:0019916 maternal uniparental disomy of chromosome 16 MONDO:0015246 Orphanet:96185 Orphanet:117573 obsolete syndromic anorectal malformation -MONDO:0019916 maternal uniparental disomy of chromosome 16 MONDO:0020056 Orphanet:96185 Orphanet:98153 obsolete uniparental disomy of maternal origin -MONDO:0019916 maternal uniparental disomy of chromosome 16 MONDO:8000032 Orphanet:96185 Orphanet:377789 obsolete malformation syndrome -MONDO:0019917 maternal uniparental disomy of chromosome 20 MONDO:0020056 Orphanet:96186 Orphanet:98153 obsolete uniparental disomy of maternal origin -MONDO:0019917 maternal uniparental disomy of chromosome 20 MONDO:8000032 Orphanet:96186 Orphanet:377789 obsolete malformation syndrome -MONDO:0019918 maternal uniparental disomy of chromosome 21 MONDO:0020056 Orphanet:96187 Orphanet:98153 obsolete uniparental disomy of maternal origin -MONDO:0019918 maternal uniparental disomy of chromosome 21 MONDO:8000032 Orphanet:96187 Orphanet:377789 obsolete malformation syndrome -MONDO:0019919 maternal uniparental disomy of chromosome 22 MONDO:0020056 Orphanet:96188 Orphanet:98153 obsolete uniparental disomy of maternal origin -MONDO:0019919 maternal uniparental disomy of chromosome 22 MONDO:8000032 Orphanet:96188 Orphanet:377789 obsolete malformation syndrome -MONDO:0019920 paternal uniparental disomy of chromosome 5 MONDO:0020057 Orphanet:96190 Orphanet:98154 obsolete uniparental disomy of paternal origin -MONDO:0019920 paternal uniparental disomy of chromosome 5 MONDO:8000032 Orphanet:96190 Orphanet:377789 obsolete malformation syndrome -MONDO:0019921 paternal uniparental disomy of chromosome 6 MONDO:0020057 Orphanet:96191 Orphanet:98154 obsolete uniparental disomy of paternal origin -MONDO:0019921 paternal uniparental disomy of chromosome 6 MONDO:8000032 Orphanet:96191 Orphanet:377789 obsolete malformation syndrome -MONDO:0019922 paternal uniparental disomy of chromosome 7 MONDO:0020057 Orphanet:96192 Orphanet:98154 obsolete uniparental disomy of paternal origin -MONDO:0019922 paternal uniparental disomy of chromosome 7 MONDO:8000032 Orphanet:96192 Orphanet:377789 obsolete malformation syndrome -MONDO:0019923 Beckwith-Wiedemann syndrome due to paternal uniparental disomy of chromosome 11 MONDO:0020057 Orphanet:96193 Orphanet:98154 obsolete uniparental disomy of paternal origin -MONDO:0019923 Beckwith-Wiedemann syndrome due to paternal uniparental disomy of chromosome 11 MONDO:8000031 Orphanet:96193 Orphanet:557494 obsolete subtype of a disorder -MONDO:0019924 paternal uniparental disomy of chromosome 20 MONDO:0020057 Orphanet:96194 Orphanet:98154 obsolete uniparental disomy of paternal origin -MONDO:0019924 paternal uniparental disomy of chromosome 20 MONDO:8000032 Orphanet:96194 Orphanet:377789 obsolete malformation syndrome -MONDO:0019925 paternal uniparental disomy of chromosome 21 MONDO:0020057 Orphanet:96195 Orphanet:98154 obsolete uniparental disomy of paternal origin -MONDO:0019925 paternal uniparental disomy of chromosome 21 MONDO:8000032 Orphanet:96195 Orphanet:377789 obsolete malformation syndrome -MONDO:0019926 X small rings MONDO:0018401 Orphanet:96201 Orphanet:399853 obsolete female infertility due to an anomaly of ovarian function -MONDO:0019926 X small rings MONDO:0018413 Orphanet:96201 Orphanet:400022 obsolete female infertility due to an anomaly of ovarian function of genetic origin -MONDO:0019926 X small rings MONDO:0020062 Orphanet:96201 Orphanet:98159 obsolete chromosome X structural anomaly -MONDO:0019926 X small rings MONDO:0034443 Orphanet:96201 Orphanet:485382 obsolete genetic non-acquired premature ovarian failure -MONDO:0019926 X small rings MONDO:8000032 Orphanet:96201 Orphanet:377789 obsolete malformation syndrome -MONDO:0019928 48,XXXY syndrome MONDO:0015620 Orphanet:96263 Orphanet:165707 obsolete syndromic urogenital tract malformation -MONDO:0019928 48,XXXY syndrome MONDO:0017001 Orphanet:96263 Orphanet:263720 obsolete X chromosome number anomaly with male phenotype -MONDO:0019928 48,XXXY syndrome MONDO:0020090 Orphanet:96263 Orphanet:98313 obsolete male infertility due to gonadal dysgenesis -MONDO:0019928 48,XXXY syndrome MONDO:0035863 Orphanet:96263 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0019928 48,XXXY syndrome MONDO:8000032 Orphanet:96263 Orphanet:377789 obsolete malformation syndrome -MONDO:0019929 49,XXXXY syndrome MONDO:0015620 Orphanet:96264 Orphanet:165707 obsolete syndromic urogenital tract malformation -MONDO:0019929 49,XXXXY syndrome MONDO:0017001 Orphanet:96264 Orphanet:263720 obsolete X chromosome number anomaly with male phenotype -MONDO:0019929 49,XXXXY syndrome MONDO:0020090 Orphanet:96264 Orphanet:98313 obsolete male infertility due to gonadal dysgenesis -MONDO:0019929 49,XXXXY syndrome MONDO:0035863 Orphanet:96264 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0019929 49,XXXXY syndrome MONDO:8000032 Orphanet:96264 Orphanet:377789 obsolete malformation syndrome -MONDO:0019930 Leydig cell hypoplasia due to complete LH resistance MONDO:8000031 Orphanet:96265 Orphanet:557494 obsolete subtype of a disorder -MONDO:0019931 Leydig cell hypoplasia due to partial LH resistance MONDO:8000031 Orphanet:96266 Orphanet:557494 obsolete subtype of a disorder -MONDO:0019932 isolated partial vaginal agenesis MONDO:0015847 Orphanet:96269 Orphanet:180151 obsolete rare vaginal malformation -MONDO:0019932 isolated partial vaginal agenesis MONDO:8000030 Orphanet:96269 Orphanet:377791 obsolete morphological anomaly -MONDO:0019933 acromegaly MONDO:0018397 Orphanet:963 Orphanet:399831 obsolete female infertility due to hypothalamic-pituitary-gonadal axis disorder -MONDO:0019935 isochromosome Y MONDO:0020061 Orphanet:96325 Orphanet:98158 obsolete chromosome Y structural anomaly -MONDO:0019936 obsolete rare otorhinolaryngological malformation MONDO:0015475 Orphanet:96333 Orphanet:155832 obsolete rare head and neck malformation -MONDO:0019936 obsolete rare otorhinolaryngological malformation MONDO:0020017 Orphanet:96333 Orphanet:98036 obsolete rare otorhinolaryngologic disease -MONDO:0019937 obsolete rare gynecologic or obstetric disease MONDO:8000033 Orphanet:96344 Orphanet:557492 obsolete group of disorders -MONDO:0019938 anorectal malformation MONDO:0020019 Orphanet:96346 Orphanet:98039 obsolete digestive tract malformation -MONDO:0019938 anorectal malformation MONDO:0026183 Orphanet:96346 Orphanet:183545 obsolete genetic digestive tract malformation -MONDO:0019941 hereditary sensory and autonomic neuropathy type 2 MONDO:0015366 Orphanet:970 Orphanet:140477 obsolete autosomal recessive hereditary sensory and autonomic neuropathy -MONDO:0019943 hereditary continuous muscle fiber activity MONDO:0016110 Orphanet:972 Orphanet:206656 obsolete non-dystrophic myopathy -MONDO:0019944 Eisenmenger syndrome MONDO:0017152 Orphanet:97214 Orphanet:275803 obsolete pulmonary arterial hypertension associated with congenital heart disease -MONDO:0019944 Eisenmenger syndrome MONDO:8000032 Orphanet:97214 Orphanet:377789 obsolete malformation syndrome -MONDO:0019945 solar urticaria MONDO:0019304 Orphanet:97230 Orphanet:79390 obsolete rare photodermatosis -MONDO:0019947 rippling muscle disease 2 MONDO:0016110 Orphanet:97238 Orphanet:206656 obsolete non-dystrophic myopathy -MONDO:0019952 congenital myopathy MONDO:0016110 Orphanet:97245 Orphanet:206656 obsolete non-dystrophic myopathy -MONDO:0019953 mega-cisterna magna MONDO:0020133 Orphanet:97252 Orphanet:98519 obsolete posterior fossa malformation -MONDO:0019953 mega-cisterna magna MONDO:8000030 Orphanet:97252 Orphanet:377791 obsolete morphological anomaly -MONDO:0019956 encephalitis MONDO:0015144 Orphanet:97275 Orphanet:102005 obsolete brain inflammatory disease -MONDO:0019963 bronchial endocrine tumor MONDO:0015081 Orphanet:97287 Orphanet:100101 obsolete neuroendocrine tumor with other location -MONDO:0019963 bronchial endocrine tumor MONDO:0015119 Orphanet:97287 Orphanet:101945 obsolete bronchopulmonary tumor -MONDO:0019964 thymic neuroendocrine tumor MONDO:0015081 Orphanet:97289 Orphanet:100101 obsolete neuroendocrine tumor with other location -MONDO:0019965 obsolete rare benign ovarian tumor MONDO:0015861 Orphanet:97293 Orphanet:180220 obsolete rare uterine adnexal tumor -MONDO:0019971 melanoma of soft tissue MONDO:0019099 Orphanet:97338 Orphanet:71209 obsolete rare soft tissue tumor -MONDO:0019972 dural sinus malformation MONDO:0015145 Orphanet:97339 Orphanet:102006 obsolete neurovascular malformation -MONDO:0019972 dural sinus malformation MONDO:0016234 Orphanet:97339 Orphanet:211266 obsolete rare arteriovenous malformation -MONDO:0019972 dural sinus malformation MONDO:8000030 Orphanet:97339 Orphanet:377791 obsolete morphological anomaly -MONDO:0019975 pellagra MONDO:0019546 Orphanet:97352 Orphanet:90077 obsolete other acquired skin disease -MONDO:0019976 dementia pugilistica MONDO:0019515 Orphanet:97353 Orphanet:89043 obsolete rare dementia -MONDO:0019977 parkinsonism with dementia of Guadeloupe MONDO:0017635 Orphanet:97355 Orphanet:306666 obsolete parkinsonian syndrome due to neurodegenerative disease -MONDO:0019977 parkinsonism with dementia of Guadeloupe MONDO:0019515 Orphanet:97355 Orphanet:89043 obsolete rare dementia -MONDO:0019978 Robinow syndrome MONDO:0015329 Orphanet:97360 Orphanet:139021 obsolete malformation syndrome with short stature -MONDO:0019978 Robinow syndrome MONDO:0019697 Orphanet:97360 Orphanet:93438 obsolete mesomelic and rhizo-mesomelic dysplasia -MONDO:0019978 Robinow syndrome MONDO:0026187 Orphanet:97360 Orphanet:183570 obsolete genetic malformation syndrome with short stature -MONDO:0019978 Robinow syndrome MONDO:0035863 Orphanet:97360 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0019978 Robinow syndrome MONDO:8000032 Orphanet:97360 Orphanet:377789 obsolete malformation syndrome -MONDO:0019979 renal hypoplasia, unilateral MONDO:8000031 Orphanet:97361 Orphanet:557494 obsolete subtype of a disorder -MONDO:0019980 renal hypoplasia, bilateral MONDO:8000031 Orphanet:97362 Orphanet:557494 obsolete subtype of a disorder -MONDO:0019981 unilateral multicystic dysplastic kidney MONDO:8000031 Orphanet:97363 Orphanet:557494 obsolete subtype of a disorder -MONDO:0019982 bilateral multicystic dysplastic kidney MONDO:8000031 Orphanet:97364 Orphanet:557494 obsolete subtype of a disorder -MONDO:0019983 multiloculated renal cyst MONDO:0019749 Orphanet:97366 Orphanet:93619 obsolete rare renal tumor -MONDO:0019983 multiloculated renal cyst MONDO:8000030 Orphanet:97366 Orphanet:377791 obsolete morphological anomaly -MONDO:0019984 renal tubular dysgenesis due to twin-twin transfusion MONDO:8000031 Orphanet:97367 Orphanet:557494 obsolete subtype of a disorder -MONDO:0019985 drug-related renal tubular dysgenesis MONDO:8000031 Orphanet:97368 Orphanet:557494 obsolete subtype of a disorder -MONDO:0019988 pauci-immune glomerulonephritis with ANCA MONDO:8000031 Orphanet:97563 Orphanet:557494 obsolete subtype of a disorder -MONDO:0019989 pauci-immune glomerulonephritis without ANCA MONDO:8000031 Orphanet:97564 Orphanet:557494 obsolete subtype of a disorder -MONDO:0019992 pseudohypoparathyroidism MONDO:0015896 Orphanet:97593 Orphanet:181405 obsolete rare hypoparathyroidism -MONDO:0019992 pseudohypoparathyroidism MONDO:0019744 Orphanet:97593 Orphanet:93603 obsolete rare renal tubular disease -MONDO:0019993 congenital renal artery stenosis MONDO:0019748 Orphanet:97598 Orphanet:93618 obsolete rare cause of hypertension -MONDO:0019994 maternal uniparental disomy of chromosome 13 MONDO:0020056 Orphanet:97678 Orphanet:98153 obsolete uniparental disomy of maternal origin -MONDO:0019994 maternal uniparental disomy of chromosome 13 MONDO:8000032 Orphanet:97678 Orphanet:377789 obsolete malformation syndrome -MONDO:0019996 obsolete rare cardiac disease MONDO:8000033 Orphanet:97929 Orphanet:557492 obsolete group of disorders -MONDO:0019997 obsolete rare gastroenterologic disease MONDO:8000033 Orphanet:97935 Orphanet:557492 obsolete group of disorders -MONDO:0019998 obsolete gastroduodenal malformation MONDO:0020019 Orphanet:97944 Orphanet:98039 obsolete digestive tract malformation -MONDO:0019998 obsolete gastroduodenal malformation MONDO:0026183 Orphanet:97944 Orphanet:183545 obsolete genetic digestive tract malformation -MONDO:0019999 obsolete intestinal malformation MONDO:0020019 Orphanet:97945 Orphanet:98039 obsolete digestive tract malformation -MONDO:0019999 obsolete intestinal malformation MONDO:0026183 Orphanet:97945 Orphanet:183545 obsolete genetic digestive tract malformation -MONDO:0020000 obsolete rare respiratory disease MONDO:8000033 Orphanet:97955 Orphanet:557492 obsolete group of disorders -MONDO:0020001 respiratory or thoracic malformation MONDO:0020000 Orphanet:97957 Orphanet:97955 obsolete rare respiratory disease -MONDO:0020002 obsolete rare surgical thoracic disease MONDO:8000033 Orphanet:97962 Orphanet:557492 obsolete group of disorders -MONDO:0020003 obsolete rare surgical cardiac disease MONDO:0019755 Orphanet:97965 Orphanet:93890 developmental defect during embryogenesis -MONDO:0020004 obsolete rare eye disease MONDO:8000033 Orphanet:97966 Orphanet:557492 obsolete group of disorders -MONDO:0020005 obsolete rare endocrine disease MONDO:8000033 Orphanet:97978 Orphanet:557492 obsolete group of disorders -MONDO:0020007 absence of the pulmonary artery MONDO:0020287 Orphanet:980 Orphanet:98719 obsolete pulmonary artery or pulmonary branch anomaly -MONDO:0020007 absence of the pulmonary artery MONDO:8000030 Orphanet:980 Orphanet:377791 obsolete morphological anomaly -MONDO:0020008 obsolete rare immune disease MONDO:8000033 Orphanet:98004 Orphanet:557492 obsolete group of disorders -MONDO:0020009 obsolete rare neurologic disease MONDO:8000033 Orphanet:98006 Orphanet:557492 obsolete group of disorders -MONDO:0020010 infectious disorder of the nervous system MONDO:0020009 Orphanet:98010 Orphanet:98006 obsolete rare neurologic disease -MONDO:0020011 obsolete rare headache disorder MONDO:0020009 Orphanet:98022 Orphanet:98006 obsolete rare neurologic disease -MONDO:0020013 obsolete rare odontologic disease MONDO:8000033 Orphanet:98026 Orphanet:557492 obsolete group of disorders -MONDO:0020014 obsolete rare disease with odontological manifestation MONDO:0020013 Orphanet:98027 Orphanet:98026 obsolete rare odontologic disease -MONDO:0020015 obsolete rare circulatory system disease MONDO:8000033 Orphanet:98028 Orphanet:557492 obsolete group of disorders -MONDO:0020016 obsolete rare neurologic disease with psychiatric involvement MONDO:0020009 Orphanet:98033 Orphanet:98006 obsolete rare neurologic disease -MONDO:0020017 obsolete rare otorhinolaryngologic disease MONDO:8000033 Orphanet:98036 Orphanet:557492 obsolete group of disorders -MONDO:0020018 obsolete cranial malformation MONDO:0019755 Orphanet:98038 Orphanet:93890 developmental defect during embryogenesis -MONDO:0020019 obsolete digestive tract malformation MONDO:0015621 Orphanet:98039 Orphanet:165711 obsolete rare abdominal surgical disease -MONDO:0020019 obsolete digestive tract malformation MONDO:0019755 Orphanet:98039 Orphanet:93890 developmental defect during embryogenesis -MONDO:0020020 obsolete visceral malformation of the liver, biliary tract, pancreas or spleen MONDO:0015621 Orphanet:98041 Orphanet:165711 obsolete rare abdominal surgical disease -MONDO:0020020 obsolete visceral malformation of the liver, biliary tract, pancreas or spleen MONDO:0019755 Orphanet:98041 Orphanet:93890 developmental defect during embryogenesis -MONDO:0020021 obsolete diaphragmatic or abdominal wall malformation MONDO:0015621 Orphanet:98043 Orphanet:165711 obsolete rare abdominal surgical disease -MONDO:0020021 obsolete diaphragmatic or abdominal wall malformation MONDO:0019755 Orphanet:98043 Orphanet:93890 developmental defect during embryogenesis -MONDO:0020022 central nervous system malformation MONDO:0020009 Orphanet:98044 Orphanet:98006 obsolete rare neurologic disease -MONDO:0020023 obsolete respiratory or mediastinal malformation MONDO:0019755 Orphanet:98045 Orphanet:93890 developmental defect during embryogenesis -MONDO:0020024 obsolete rare infertility MONDO:8000033 Orphanet:98047 Orphanet:557492 obsolete group of disorders -MONDO:0020025 obsolete rare male infertility MONDO:0020024 Orphanet:98048 Orphanet:98047 obsolete rare infertility -MONDO:0020026 obsolete rare female infertility MONDO:0020024 Orphanet:98049 Orphanet:98047 obsolete rare infertility -MONDO:0020027 obsolete rare allergic disease MONDO:8000033 Orphanet:98050 Orphanet:557492 obsolete group of disorders -MONDO:0020028 obsolete rare allergic respiratory disease MONDO:0020027 Orphanet:98052 Orphanet:98050 obsolete rare allergic disease -MONDO:0020029 obsolete rare genetic cardiac disease MONDO:0021198 Orphanet:98054 Orphanet:98053 obsolete rare genetic disease -MONDO:0020030 obsolete rare genetic renal disease MONDO:0021198 Orphanet:98056 Orphanet:98053 obsolete rare genetic disease -MONDO:0020031 obsolete rare tumor MONDO:0016645 Orphanet:98057 Orphanet:250908 obsolete rare neoplastic disease -MONDO:0020032 obsolete rare urinary tract tumor MONDO:0015931 Orphanet:98058 Orphanet:182114 obsolete rare urogenital tumor -MONDO:0020033 obsolete rare digestive tumor MONDO:0020031 Orphanet:98059 Orphanet:98057 obsolete rare tumor -MONDO:0020034 obsolete rare respiratory tract neoplasm MONDO:0020000 Orphanet:98060 Orphanet:97955 obsolete rare respiratory disease -MONDO:0020034 obsolete rare respiratory tract neoplasm MONDO:0020031 Orphanet:98060 Orphanet:98057 obsolete rare tumor -MONDO:0020035 obsolete rare otorhinolaryngologic tumor MONDO:0017371 Orphanet:98061 Orphanet:290849 obsolete rare head and neck tumor -MONDO:0020035 obsolete rare otorhinolaryngologic tumor MONDO:0020017 Orphanet:98061 Orphanet:98036 obsolete rare otorhinolaryngologic disease -MONDO:0020036 obsolete rare nervous system tumor MONDO:0020009 Orphanet:98062 Orphanet:98006 obsolete rare neurologic disease -MONDO:0020036 obsolete rare nervous system tumor MONDO:0020031 Orphanet:98062 Orphanet:98057 obsolete rare tumor -MONDO:0020037 obsolete rare gynecological tumor MONDO:0019937 Orphanet:98063 Orphanet:96344 obsolete rare gynecologic or obstetric disease -MONDO:0020037 obsolete rare gynecological tumor MONDO:0020031 Orphanet:98063 Orphanet:98057 obsolete rare tumor -MONDO:0020038 obsolete gonadal dysgenesis of gynecological interest MONDO:0017976 Orphanet:98074 Orphanet:325620 obsolete disorder of sex development of gynecological interest -MONDO:0020038 obsolete gonadal dysgenesis of gynecological interest MONDO:0031004 Orphanet:98074 Orphanet:325665 obsolete genetic disorder of sex development of gynecological interest -MONDO:0020039 obsolete 46,XX disorder of sex development induced by androgens excess MONDO:0017576 Orphanet:98078 Orphanet:2982 46,XX disorder of sex development -MONDO:0020039 obsolete 46,XX disorder of sex development induced by androgens excess MONDO:0017976 Orphanet:98078 Orphanet:325620 obsolete disorder of sex development of gynecological interest -MONDO:0020041 obsolete 46,XY disorder of sex development due to a defect in testosterone metabolism by peripheral tissue MONDO:0017970 Orphanet:98086 Orphanet:325357 obsolete 46,XY disorder of sex development due to impaired androgen production -MONDO:0020041 obsolete 46,XY disorder of sex development due to a defect in testosterone metabolism by peripheral tissue MONDO:0017977 Orphanet:98086 Orphanet:325632 obsolete 46,XY disorder of sex development of gynecological interest -MONDO:0020042 obsolete syndrome with 46,XY disorder of sex development MONDO:0020040 Orphanet:98087 Orphanet:98085 46,XY disorder of sex development -MONDO:0020042 obsolete syndrome with 46,XY disorder of sex development MONDO:0957025 Orphanet:98087 Orphanet:325706 obsolete hereditary 46,XY disorder of sex development -MONDO:0020045 obsolete autosomal recessive cerebellar ataxia due to a DNA repair defect MONDO:0015244 Orphanet:98097 Orphanet:1172 autosomal recessive cerebellar ataxia -MONDO:0020048 internal carotid agenesis MONDO:0015145 Orphanet:981 Orphanet:102006 obsolete neurovascular malformation -MONDO:0020048 internal carotid agenesis MONDO:0018723 Orphanet:981 Orphanet:458844 obsolete rare vascular malformation of major vessels -MONDO:0020048 internal carotid agenesis MONDO:8000030 Orphanet:981 Orphanet:377791 obsolete morphological anomaly -MONDO:0020050 obsolete autosomal trisomy MONDO:0020049 Orphanet:98130 Orphanet:98127 autosomal anomaly -MONDO:0020051 obsolete total autosomal trisomy MONDO:0020050 Orphanet:98131 Orphanet:98130 obsolete autosomal trisomy -MONDO:0020052 obsolete partial autosomal trisomy/tetrasomy MONDO:0020050 Orphanet:98132 Orphanet:98130 obsolete autosomal trisomy -MONDO:0020053 obsolete total autosomal monosomy MONDO:0015153 Orphanet:98141 Orphanet:102020 obsolete autosomal monosomy -MONDO:0020054 obsolete partial autosomal monosomy MONDO:0015153 Orphanet:98142 Orphanet:102020 obsolete autosomal monosomy -MONDO:0020055 obsolete autosomal uniparental disomy MONDO:0020049 Orphanet:98152 Orphanet:98127 autosomal anomaly -MONDO:0020056 obsolete uniparental disomy of maternal origin MONDO:0020055 Orphanet:98153 Orphanet:98152 obsolete autosomal uniparental disomy -MONDO:0020057 obsolete uniparental disomy of paternal origin MONDO:0020055 Orphanet:98154 Orphanet:98152 obsolete autosomal uniparental disomy -MONDO:0020059 obsolete gonosome number anomaly MONDO:0020058 Orphanet:98156 Orphanet:98155 gonosome anomaly -MONDO:0020060 obsolete gonosome structural anomaly MONDO:0020058 Orphanet:98157 Orphanet:98155 gonosome anomaly -MONDO:0020061 obsolete chromosome Y structural anomaly MONDO:0020060 Orphanet:98158 Orphanet:98157 obsolete gonosome structural anomaly -MONDO:0020062 obsolete chromosome X structural anomaly MONDO:0020060 Orphanet:98159 Orphanet:98157 obsolete gonosome structural anomaly -MONDO:0020063 obsolete malformation syndrome with hamartosis MONDO:0015960 Orphanet:98196 Orphanet:183530 obsolete rare genetic developmental defect during embryogenesis -MONDO:0020063 obsolete malformation syndrome with hamartosis MONDO:0019755 Orphanet:98196 Orphanet:93890 developmental defect during embryogenesis -MONDO:0020064 pulmonary valve agenesis MONDO:0020287 Orphanet:982 Orphanet:98719 obsolete pulmonary artery or pulmonary branch anomaly -MONDO:0020065 combined dystonia MONDO:0019049 Orphanet:98203 Orphanet:68363 obsolete rare dystonia -MONDO:0020066 Ehlers-Danlos syndrome MONDO:0015331 Orphanet:98249 Orphanet:139027 obsolete malformation syndrome with skin/mucosae involvement -MONDO:0020066 Ehlers-Danlos syndrome MONDO:0015332 Orphanet:98249 Orphanet:139030 obsolete rare developmental defect with connective tissue involvement -MONDO:0020069 obsolete chronic encephalitis MONDO:0019956 Orphanet:98255 Orphanet:97275 encephalitis -MONDO:0020069 obsolete chronic encephalitis MONDO:0020010 Orphanet:98255 Orphanet:98010 infectious disorder of the nervous system -MONDO:0020074 progressive myoclonus epilepsy MONDO:0017653 Orphanet:98261 Orphanet:306756 obsolete epilepsy and/or ataxia with myoclonus as major feature -MONDO:0020078 obsolete acute myeloid leukemia with recurrent genetic anomaly MONDO:0018874 Orphanet:98277 Orphanet:519 acute myeloid leukemia -MONDO:0020081 obsolete macrophage or histiocytic tumor MONDO:0006247 Orphanet:98288 Orphanet:98287 histiocytic and dendritic cell neoplasm -MONDO:0020084 obsolete lymphoproliferative disease associated with primary immune disease MONDO:0020083 Orphanet:98291 Orphanet:98290 immunodeficiency-associated lymphoproliferative disease -MONDO:0020087 hereditary lipodystrophy MONDO:0015513 Orphanet:98305 Orphanet:156638 obsolete rare genetic endocrine disease -MONDO:0020087 hereditary lipodystrophy MONDO:0015949 Orphanet:98305 Orphanet:183484 obsolete rare genetic subcutaneous tissue disorder -MONDO:0020087 hereditary lipodystrophy MONDO:0019599 Orphanet:98305 Orphanet:90970 obsolete primary lipodystrophy -MONDO:0020089 acquired lipodystrophy MONDO:0019599 Orphanet:98307 Orphanet:90970 obsolete primary lipodystrophy -MONDO:0020090 obsolete male infertility due to gonadal dysgenesis MONDO:0018389 Orphanet:98313 Orphanet:399764 obsolete male infertility due to gonadal dysgenesis or sperm disorder -MONDO:0020091 obsolete male infertility due to obstructive azoospermia MONDO:0020025 Orphanet:98343 Orphanet:98048 obsolete rare male infertility -MONDO:0020093 obsolete autosomal dominant isolated diffuse palmoplantar keratoderma MONDO:0017667 Orphanet:98349 Orphanet:307148 obsolete isolated diffuse palmoplantar keratoderma -MONDO:0020094 obsolete autosomal dominant disease with diffuse palmoplantar keratoderma as a major feature MONDO:0017669 Orphanet:98352 Orphanet:307711 obsolete disease with diffuse palmoplantar keratoderma as a major feature -MONDO:0020095 obsolete autosomal dominant disease associated with focal palmoplantar keratoderma as a major feature MONDO:0017674 Orphanet:98353 Orphanet:307871 obsolete disease with focal palmoplantar keratoderma as a major feature -MONDO:0020096 obsolete autosomal recessive isolated diffuse palmoplantar keratoderma MONDO:0017667 Orphanet:98356 Orphanet:307148 obsolete isolated diffuse palmoplantar keratoderma -MONDO:0020097 obsolete autosomal recessive disease with focal palmoplantar keratoderma as a major feature MONDO:0017674 Orphanet:98357 Orphanet:307871 obsolete disease with focal palmoplantar keratoderma as a major feature -MONDO:0020098 obsolete constitutional anemia due to iron metabolism disorder MONDO:0016624 Orphanet:98360 Orphanet:248296 inherited deficiency anemia -MONDO:0020099 inherited sideroblastic anemia MONDO:0015972 Orphanet:98362 Orphanet:183651 obsolete rare constitutional anemia -MONDO:0020100 obsolete rare hemolytic anemia MONDO:0015223 Orphanet:98363 Orphanet:108997 obsolete rare anemia -MONDO:0020101 obsolete constitutional hemolytic anemia due to membrane defect MONDO:0015910 Orphanet:98364 Orphanet:182043 obsolete rare constitutional hemolytic anemia -MONDO:0020102 hereditary stomatocytosis MONDO:0020101 Orphanet:98365 Orphanet:98364 obsolete constitutional hemolytic anemia due to membrane defect -MONDO:0020103 obsolete constitutional hemolytic anemia due to acanthocytosis MONDO:0020101 Orphanet:98366 Orphanet:98364 obsolete constitutional hemolytic anemia due to membrane defect -MONDO:0020104 obsolete rare constitutional hemolytic anemia due to an enzyme disorder MONDO:0015910 Orphanet:98369 Orphanet:182043 obsolete rare constitutional hemolytic anemia -MONDO:0020105 obsolete hemolytic anemia due to hexose monophosphate shunt and glutathione metabolism anomalies MONDO:0020104 Orphanet:98370 Orphanet:98369 obsolete rare constitutional hemolytic anemia due to an enzyme disorder -MONDO:0020106 obsolete hemolytic anemia due to a disorder of glycolytic enzymes MONDO:0020104 Orphanet:98372 Orphanet:98369 obsolete rare constitutional hemolytic anemia due to an enzyme disorder -MONDO:0020107 obsolete hemolytic anemia due to an erythrocyte nucleotide metabolism disorder MONDO:0020104 Orphanet:98374 Orphanet:98369 obsolete rare constitutional hemolytic anemia due to an enzyme disorder -MONDO:0020108 autoimmune hemolytic anemia MONDO:0015911 Orphanet:98375 Orphanet:182047 obsolete rare acquired hemolytic anemia -MONDO:0020109 obsolete constitutional megaloblastic anemia due to vitamin B12 metabolism disorder MONDO:0016624 Orphanet:98396 Orphanet:248296 inherited deficiency anemia -MONDO:0020110 pulmonary agenesis MONDO:0015221 Orphanet:984 Orphanet:108993 obsolete non-syndromic respiratory or mediastinal malformation -MONDO:0020110 pulmonary agenesis MONDO:0015930 Orphanet:984 Orphanet:182111 obsolete respiratory malformation -MONDO:0020110 pulmonary agenesis MONDO:8000030 Orphanet:984 Orphanet:377791 obsolete morphological anomaly -MONDO:0020111 obsolete constitutional megaloblastic anemia due to folate metabolism disorder MONDO:0016624 Orphanet:98408 Orphanet:248296 inherited deficiency anemia -MONDO:0020115 secondary polycythemia MONDO:0027929 Orphanet:98428 Orphanet:250165 obsolete genetic polycythemia -MONDO:0020116 obsolete rare blood coagulation disease MONDO:0005570 Orphanet:98429 Orphanet:97992 hematologic disorder -MONDO:0020117 alpha granule disease MONDO:0016361 Orphanet:98455 Orphanet:220452 obsolete isolated hereditary giant platelet disorder -MONDO:0020118 obsolete dense granule disease MONDO:0018795 Orphanet:98456 Orphanet:477794 syndromic constitutional thrombocytopenia -MONDO:0020122 acquired idiopathic inflammatory myopathy MONDO:0015939 Orphanet:98482 Orphanet:182228 obsolete systemic autoimmune disease -MONDO:0020123 metabolic myopathy MONDO:0016110 Orphanet:98486 Orphanet:206656 obsolete non-dystrophic myopathy -MONDO:0020125 obsolete acquired neuromuscular junction disease MONDO:0020124 Orphanet:98494 Orphanet:98491 neuromuscular junction disease -MONDO:0020126 obsolete rare peripheral neuropathy MONDO:0020009 Orphanet:98496 Orphanet:98006 obsolete rare neurologic disease -MONDO:0020127 hereditary peripheral neuropathy MONDO:0019117 Orphanet:98497 Orphanet:71859 obsolete genetic nervous system disorder -MONDO:0020127 hereditary peripheral neuropathy MONDO:0020126 Orphanet:98497 Orphanet:98496 obsolete rare peripheral neuropathy -MONDO:0020130 obsolete malformation of the cerebellar vermis MONDO:0015915 Orphanet:98514 Orphanet:182061 obsolete cerebellar malformation -MONDO:0020131 obsolete malformation of the cerebellar hemispheres MONDO:0015915 Orphanet:98516 Orphanet:182061 obsolete cerebellar malformation -MONDO:0020132 obsolete cranial nerve and nuclear aplasia MONDO:0015219 Orphanet:98518 Orphanet:108989 obsolete non-syndromic central nervous system malformation -MONDO:0020133 obsolete posterior fossa malformation MONDO:0015219 Orphanet:98519 Orphanet:108989 obsolete non-syndromic central nervous system malformation -MONDO:0020135 pontocerebellar hypoplasia MONDO:0015655 Orphanet:98523 Orphanet:166478 obsolete cerebral malformation with epilepsy -MONDO:0020135 pontocerebellar hypoplasia MONDO:0020133 Orphanet:98523 Orphanet:98519 obsolete posterior fossa malformation -MONDO:0020135 pontocerebellar hypoplasia MONDO:0957009 Orphanet:98523 Orphanet:269557 obsolete hereditary posterior fossa malformation -MONDO:0020136 obsolete neurodegenerative disease with dementia MONDO:0015918 Orphanet:98534 Orphanet:182070 obsolete rare neurodegenerative disease -MONDO:0020136 obsolete neurodegenerative disease with dementia MONDO:0019515 Orphanet:98534 Orphanet:89043 obsolete rare dementia -MONDO:0020137 obsolete frontotemporal degeneration with dementia MONDO:0020136 Orphanet:98535 Orphanet:98534 obsolete neurodegenerative disease with dementia -MONDO:0020138 obsolete ataxia with dementia MONDO:0020136 Orphanet:98538 Orphanet:98534 obsolete neurodegenerative disease with dementia -MONDO:0020138 obsolete ataxia with dementia MONDO:0021037 Orphanet:98538 Orphanet:276058 obsolete genetic neurodegenerative disease with dementia -MONDO:0020139 obsolete early-onset ataxia with dementia MONDO:0020138 Orphanet:98539 Orphanet:98538 obsolete ataxia with dementia -MONDO:0020140 obsolete late-onset ataxia with dementia MONDO:0020138 Orphanet:98540 Orphanet:98538 obsolete ataxia with dementia -MONDO:0020141 obsolete infectious disease with dementia MONDO:0019515 Orphanet:98542 Orphanet:89043 obsolete rare dementia -MONDO:0020142 obsolete metabolic disease with dementia MONDO:0015547 Orphanet:98543 Orphanet:158124 hereditary dementia -MONDO:0020142 obsolete metabolic disease with dementia MONDO:0019515 Orphanet:98543 Orphanet:89043 obsolete rare dementia -MONDO:0020143 cerebral lipidosis with dementia MONDO:0020142 Orphanet:98544 Orphanet:98543 obsolete metabolic disease with dementia -MONDO:0020144 obsolete cerebrovascular dementia MONDO:0015547 Orphanet:98549 Orphanet:158124 hereditary dementia -MONDO:0020144 obsolete cerebrovascular dementia MONDO:0019515 Orphanet:98549 Orphanet:89043 obsolete rare dementia -MONDO:0020145 obsolete developmental defect of the eye MONDO:0019755 Orphanet:98553 Orphanet:93890 developmental defect during embryogenesis -MONDO:0020148 obsolete syndromic aniridia MONDO:0850008 Orphanet:98557 Orphanet:519276 anterior segment developmental abnormality with extraocular manifestations -MONDO:0020151 obsolete rare palpebral disease MONDO:0020145 Orphanet:98560 Orphanet:98553 obsolete developmental defect of the eye -MONDO:0020152 obsolete rare eyelid malformation MONDO:0020151 Orphanet:98561 Orphanet:98560 obsolete rare palpebral disease -MONDO:0020153 cryptophthalmia MONDO:0020152 Orphanet:98562 Orphanet:98561 obsolete rare eyelid malformation -MONDO:0020154 obsolete microblepharon-ablephara syndrome MONDO:0020152 Orphanet:98563 Orphanet:98561 obsolete rare eyelid malformation -MONDO:0020155 obsolete eyelid border anomaly MONDO:0020152 Orphanet:98564 Orphanet:98561 obsolete rare eyelid malformation -MONDO:0020156 obsolete syndromic ankyloblepharon MONDO:0020155 Orphanet:98565 Orphanet:98564 obsolete eyelid border anomaly -MONDO:0020157 obsolete syndromic palpebral coloboma MONDO:0020155 Orphanet:98566 Orphanet:98564 obsolete eyelid border anomaly -MONDO:0020158 obsolete eyelids malposition disorder MONDO:0020151 Orphanet:98567 Orphanet:98560 obsolete rare palpebral disease -MONDO:0020165 obsolete syndromic epicanthus MONDO:0020158 Orphanet:98574 Orphanet:98567 obsolete eyelids malposition disorder -MONDO:0020167 obsolete malposition of external canthus MONDO:0020158 Orphanet:98576 Orphanet:98567 obsolete eyelids malposition disorder -MONDO:0020169 obsolete rare disorder with ptosis MONDO:0020158 Orphanet:98578 Orphanet:98567 obsolete eyelids malposition disorder -MONDO:0020184 obsolete rare eyebrow/eyelashes anomaly MONDO:0020145 Orphanet:98594 Orphanet:98553 obsolete developmental defect of the eye -MONDO:0020184 obsolete rare eyebrow/eyelashes anomaly MONDO:0026186 Orphanet:98594 Orphanet:183557 obsolete genetic developmental defect of the eye -MONDO:0020194 obsolete congenital alacrima MONDO:0020192 Orphanet:98604 Orphanet:98602 obsolete rare lacrimal system disease -MONDO:0020195 obsolete excretory apparatus of the lacrimal system anomaly MONDO:0020145 Orphanet:98605 Orphanet:98553 obsolete developmental defect of the eye -MONDO:0020195 obsolete excretory apparatus of the lacrimal system anomaly MONDO:0020192 Orphanet:98605 Orphanet:98602 obsolete rare lacrimal system disease -MONDO:0020197 obsolete EEC syndrome and related syndrome MONDO:0019287 Orphanet:98609 Orphanet:79373 ectodermal dysplasia syndrome -MONDO:0020197 obsolete EEC syndrome and related syndrome MONDO:0020192 Orphanet:98609 Orphanet:98602 obsolete rare lacrimal system disease -MONDO:0020206 obsolete rare refraction anomaly MONDO:0015107 Orphanet:98618 Orphanet:101435 obsolete rare genetic eye disease -MONDO:0020206 obsolete rare refraction anomaly MONDO:0020004 Orphanet:98618 Orphanet:97966 obsolete rare eye disease +MONDO:0020075 obsolete hereditary non-syndromic obesity MONDO:0000001 Orphanet:98267 Orphanet:377788 disease MONDO:0020207 obsolete rare isolated myopia MONDO:0000001 Orphanet:98619 Orphanet:377788 disease -MONDO:0020207 obsolete rare isolated myopia MONDO:0020206 Orphanet:98619 Orphanet:98618 obsolete rare refraction anomaly -MONDO:0020209 obsolete rare hyperopia and astigmatism MONDO:0020206 Orphanet:98621 Orphanet:98618 obsolete rare refraction anomaly -MONDO:0020210 obsolete syndromic hyperopia MONDO:0020209 Orphanet:98622 Orphanet:98621 obsolete rare hyperopia and astigmatism -MONDO:0020215 obsolete syndromic corneal dystrophy MONDO:0018102 Orphanet:98628 Orphanet:34533 corneal dystrophy -MONDO:0020216 obsolete secondary dysgenetic glaucoma MONDO:0020145 Orphanet:98631 Orphanet:98553 obsolete developmental defect of the eye -MONDO:0020216 obsolete secondary dysgenetic glaucoma MONDO:0957341 Orphanet:98631 Orphanet:519331 secondary early-onset glaucoma -MONDO:0020219 obsolete corneogoniodysgenesis MONDO:0020145 Orphanet:98635 Orphanet:98553 obsolete developmental defect of the eye -MONDO:0020219 obsolete corneogoniodysgenesis MONDO:0026186 Orphanet:98635 Orphanet:183557 obsolete genetic developmental defect of the eye -MONDO:0020222 obsolete rare disease with glaucoma as a major feature MONDO:0035075 Orphanet:98638 Orphanet:522580 obsolete secondary early-onset glaucoma of genetic origin -MONDO:0020222 obsolete rare disease with glaucoma as a major feature MONDO:0957341 Orphanet:98638 Orphanet:519331 secondary early-onset glaucoma -MONDO:0020224 obsolete rare cataract MONDO:0020223 Orphanet:98640 Orphanet:98639 obsolete lens and zonula anomaly -MONDO:0020225 obsolete syndromic cataract MONDO:0020224 Orphanet:98641 Orphanet:98640 obsolete rare cataract -MONDO:0020226 obsolete chromosomal anomaly with cataract MONDO:0020225 Orphanet:98642 Orphanet:98641 obsolete syndromic cataract -MONDO:0020228 obsolete cataract associated with a metabolic disease MONDO:0020225 Orphanet:98644 Orphanet:98641 obsolete syndromic cataract -MONDO:0020230 obsolete renal disease with cataract MONDO:0020225 Orphanet:98646 Orphanet:98641 obsolete syndromic cataract -MONDO:0020232 obsolete musculoskeletal disease with cataract MONDO:0020225 Orphanet:98648 Orphanet:98641 obsolete syndromic cataract -MONDO:0020233 obsolete dentocutaneous disease with cataract MONDO:0020225 Orphanet:98649 Orphanet:98641 obsolete syndromic cataract -MONDO:0020234 obsolete craniofacial anomaly with cataract MONDO:0020225 Orphanet:98650 Orphanet:98641 obsolete syndromic cataract -MONDO:0020235 obsolete lens size anomaly MONDO:0020145 Orphanet:98652 Orphanet:98553 obsolete developmental defect of the eye -MONDO:0020235 obsolete lens size anomaly MONDO:0020223 Orphanet:98652 Orphanet:98639 obsolete lens and zonula anomaly -MONDO:0020236 obsolete lens position anomaly MONDO:0020145 Orphanet:98653 Orphanet:98553 obsolete developmental defect of the eye -MONDO:0020236 obsolete lens position anomaly MONDO:0020223 Orphanet:98653 Orphanet:98639 obsolete lens and zonula anomaly -MONDO:0020237 obsolete lens shape anomaly MONDO:0020145 Orphanet:98655 Orphanet:98553 obsolete developmental defect of the eye -MONDO:0020237 obsolete lens shape anomaly MONDO:0020223 Orphanet:98655 Orphanet:98639 obsolete lens and zonula anomaly -MONDO:0020237 obsolete lens shape anomaly MONDO:0026186 Orphanet:98655 Orphanet:183557 obsolete genetic developmental defect of the eye -MONDO:0020240 obsolete syndromic retinitis pigmentosa MONDO:0034953 Orphanet:98661 Orphanet:519325 obsolete syndromic inherited retinal disorder -MONDO:0020250 autosomal dominant optic atrophy MONDO:0016803 Orphanet:98672 Orphanet:254837 obsolete unspecified inborn mitochondrial disorder -MONDO:0020251 obsolete rare strabismus and restriction syndrome MONDO:0034968 Orphanet:98681 Orphanet:519355 obsolete rare ocular motility/alignment disorder -MONDO:0020253 obsolete syndrome with a symptomatic strabismus MONDO:0020251 Orphanet:98683 Orphanet:98681 obsolete rare strabismus and restriction syndrome -MONDO:0020254 obsolete craniostenosis associated with a strabismus MONDO:0020253 Orphanet:98684 Orphanet:98683 obsolete syndrome with a symptomatic strabismus MONDO:0020256 obsolete congenital trochlear nerve palsy MONDO:0000001 Orphanet:98686 Orphanet:377788 disease -MONDO:0020257 supranuclear oculomotor palsy MONDO:0034961 Orphanet:98687 Orphanet:519341 obsolete rare brainstem or cerebellar disorder with ophthalmic involvement as a major feature -MONDO:0020258 obsolete oculomotor apraxia or related oculomotor disease MONDO:0034962 Orphanet:98688 Orphanet:519343 obsolete rare ophthalmic disorder with cortical involvement -MONDO:0020283 uveitis MONDO:0035001 Orphanet:98715 Orphanet:520814 obsolete rare disorder of the visual organs -MONDO:0020284 obsolete heart position anomaly MONDO:0019512 Orphanet:98716 Orphanet:88991 congenital heart malformation -MONDO:0020285 obsolete transposition of the great arteries and conotruncal cardiac anomaly MONDO:0019512 Orphanet:98717 Orphanet:88991 congenital heart malformation -MONDO:0020286 obsolete aortic malformation MONDO:0020285 Orphanet:98718 Orphanet:98717 obsolete transposition of the great arteries and conotruncal cardiac anomaly -MONDO:0020286 obsolete aortic malformation MONDO:0020292 Orphanet:98718 Orphanet:98724 congenital anomaly of the great arteries -MONDO:0020287 obsolete pulmonary artery or pulmonary branch anomaly MONDO:0020285 Orphanet:98719 Orphanet:98717 obsolete transposition of the great arteries and conotruncal cardiac anomaly -MONDO:0020287 obsolete pulmonary artery or pulmonary branch anomaly MONDO:0020292 Orphanet:98719 Orphanet:98724 congenital anomaly of the great arteries -MONDO:0020288 obsolete atrioventricular valve anomaly MONDO:0019512 Orphanet:98720 Orphanet:88991 congenital heart malformation -MONDO:0020289 congenital tricuspid malformation MONDO:0020288 Orphanet:98721 Orphanet:98720 obsolete atrioventricular valve anomaly -MONDO:0020290 familial atrioventricular septal defect MONDO:0017131 Orphanet:98722 Orphanet:271853 obsolete hereditary cardiac anomaly -MONDO:0020290 familial atrioventricular septal defect MONDO:0020288 Orphanet:98722 Orphanet:98720 obsolete atrioventricular valve anomaly -MONDO:0020292 congenital anomaly of the great arteries MONDO:0018723 Orphanet:98724 Orphanet:458844 obsolete rare vascular malformation of major vessels -MONDO:0020293 obsolete ascending aorta anomaly MONDO:0020292 Orphanet:98725 Orphanet:98724 congenital anomaly of the great arteries -MONDO:0020294 obsolete atrial defect and interatrial communication MONDO:0019512 Orphanet:98727 Orphanet:88991 congenital heart malformation -MONDO:0020295 congenital pulmonary veins anomaly MONDO:0018185 Orphanet:98729 Orphanet:363189 obsolete congenital anomaly of the great veins -MONDO:0020296 congenital arteriovenous fistula MONDO:0016230 Orphanet:98731 Orphanet:211243 obsolete simple vascular malformation -MONDO:0020297 Noonan syndrome and Noonan-related syndrome MONDO:0015329 Orphanet:98733 Orphanet:139021 obsolete malformation syndrome with short stature -MONDO:0020297 Noonan syndrome and Noonan-related syndrome MONDO:0015506 Orphanet:98733 Orphanet:156532 obsolete rare syndrome with cardiac malformations -MONDO:0020297 Noonan syndrome and Noonan-related syndrome MONDO:0026187 Orphanet:98733 Orphanet:183570 obsolete genetic malformation syndrome with short stature -MONDO:0020298 Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 MONDO:0020056 Orphanet:98754 Orphanet:98153 obsolete uniparental disomy of maternal origin -MONDO:0020298 Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 MONDO:8000031 Orphanet:98754 Orphanet:557494 obsolete subtype of a disorder -MONDO:0020301 Prader-Willi syndrome due to paternal 15q11q13 deletion MONDO:8000031 Orphanet:98793 Orphanet:557494 obsolete subtype of a disorder -MONDO:0020302 Angelman syndrome due to maternal 15q11q13 deletion MONDO:8000031 Orphanet:98794 Orphanet:557494 obsolete subtype of a disorder -MONDO:0020303 Angelman syndrome due to paternal uniparental disomy of chromosome 15 MONDO:0020057 Orphanet:98795 Orphanet:98154 obsolete uniparental disomy of paternal origin -MONDO:0020303 Angelman syndrome due to paternal uniparental disomy of chromosome 15 MONDO:8000031 Orphanet:98795 Orphanet:557494 obsolete subtype of a disorder -MONDO:0020304 isochromosomy Yp MONDO:8000032 Orphanet:98797 Orphanet:377789 obsolete malformation syndrome -MONDO:0020305 isochromosomy Yq MONDO:8000032 Orphanet:98798 Orphanet:377789 obsolete malformation syndrome -MONDO:0020307 benign childhood occipital epilepsy, Panayiotopoulos type MONDO:8000031 Orphanet:98815 Orphanet:557494 obsolete subtype of a disorder -MONDO:0020308 benign childhood occipital epilepsy, Gastaut type MONDO:8000031 Orphanet:98816 Orphanet:557494 obsolete subtype of a disorder MONDO:0020313 obsolete unclassified myelodysplastic/myeloproliferative disease MONDO:0000001 Orphanet:98825 Orphanet:377788 disease -MONDO:0020313 obsolete unclassified myelodysplastic/myeloproliferative disease MONDO:0020077 Orphanet:98825 Orphanet:98275 myelodysplastic/myeloproliferative disease MONDO:0020315 obsolete unclassified myelodysplastic syndrome MONDO:0000001 Orphanet:98827 Orphanet:377788 disease -MONDO:0020315 obsolete unclassified myelodysplastic syndrome MONDO:0019453 Orphanet:98827 Orphanet:86836 myelodysplastic syndrome with multilineage dysplasia -MONDO:0020316 acute myeloid leukemia with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22) MONDO:0020078 Orphanet:98829 Orphanet:98277 obsolete acute myeloid leukemia with recurrent genetic anomaly -MONDO:0020317 acute myeloid leukemia with 11q23 abnormalities MONDO:0020078 Orphanet:98831 Orphanet:98277 obsolete acute myeloid leukemia with recurrent genetic anomaly -MONDO:0020327 classic Hodgkin lymphoma, nodular sclerosis type MONDO:8000031 Orphanet:98843 Orphanet:557494 obsolete subtype of a disorder -MONDO:0020336 autosomal dominant Emery-Dreifuss muscular dystrophy MONDO:0029810 Orphanet:98853 Orphanet:300755 obsolete laminopathy with striated muscle involvement -MONDO:0020336 autosomal dominant Emery-Dreifuss muscular dystrophy MONDO:8000031 Orphanet:98853 Orphanet:557494 obsolete subtype of a disorder -MONDO:0020339 obsolete X-linked complex spastic paraplegia MONDO:0015150 Orphanet:98888 Orphanet:102013 complex hereditary spastic paraplegia -MONDO:0020340 bilateral perisylvian polymicrogyria MONDO:8000031 Orphanet:98889 Orphanet:557494 obsolete subtype of a disorder -MONDO:0020341 periventricular nodular heterotopia MONDO:8000031 Orphanet:98892 Orphanet:557494 obsolete subtype of a disorder -MONDO:0020343 obsolete alpha-crystallinopathy MONDO:0016188 Orphanet:98910 Orphanet:209044 qualitative or quantitative defects of alphaB-cristallin -MONDO:0020343 obsolete alpha-crystallinopathy MONDO:0018943 Orphanet:98910 Orphanet:593 myofibrillar myopathy -MONDO:0020344 postsynaptic congenital myasthenic syndrome MONDO:8000031 Orphanet:98913 Orphanet:557494 obsolete subtype of a disorder -MONDO:0020345 obsolete presynaptic congenital myasthenic syndrome MONDO:0018940 Orphanet:98914 Orphanet:590 congenital myasthenic syndrome -MONDO:0020345 obsolete presynaptic congenital myasthenic syndrome MONDO:0035862 Orphanet:98914 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome -MONDO:0020345 obsolete presynaptic congenital myasthenic syndrome MONDO:8000031 Orphanet:98914 Orphanet:557494 obsolete subtype of a disorder -MONDO:0020346 obsolete synaptic congenital myasthenic syndrome MONDO:0018940 Orphanet:98915 Orphanet:590 congenital myasthenic syndrome -MONDO:0020346 obsolete synaptic congenital myasthenic syndrome MONDO:8000031 Orphanet:98915 Orphanet:557494 obsolete subtype of a disorder -MONDO:0020351 Blake pouch cyst MONDO:0020133 Orphanet:98922 Orphanet:98519 obsolete posterior fossa malformation -MONDO:0020351 Blake pouch cyst MONDO:8000030 Orphanet:98922 Orphanet:377791 obsolete morphological anomaly -MONDO:0020352 multiple system atrophy, parkinsonian type MONDO:0017635 Orphanet:98933 Orphanet:306666 obsolete parkinsonian syndrome due to neurodegenerative disease -MONDO:0020352 multiple system atrophy, parkinsonian type MONDO:8000031 Orphanet:98933 Orphanet:557494 obsolete subtype of a disorder -MONDO:0020354 coloboma of choroid and retina MONDO:0020145 Orphanet:98942 Orphanet:98553 obsolete developmental defect of the eye -MONDO:0020354 coloboma of choroid and retina MONDO:0026186 Orphanet:98942 Orphanet:183557 obsolete genetic developmental defect of the eye -MONDO:0020354 coloboma of choroid and retina MONDO:8000030 Orphanet:98942 Orphanet:377791 obsolete morphological anomaly -MONDO:0020355 coloboma of eye lens MONDO:0020145 Orphanet:98943 Orphanet:98553 obsolete developmental defect of the eye -MONDO:0020355 coloboma of eye lens MONDO:0020223 Orphanet:98943 Orphanet:98639 obsolete lens and zonula anomaly -MONDO:0020355 coloboma of eye lens MONDO:0026186 Orphanet:98943 Orphanet:183557 obsolete genetic developmental defect of the eye -MONDO:0020355 coloboma of eye lens MONDO:8000030 Orphanet:98943 Orphanet:377791 obsolete morphological anomaly -MONDO:0020356 coloboma of iris MONDO:8000030 Orphanet:98944 Orphanet:377791 obsolete morphological anomaly -MONDO:0020357 coloboma of eyelid MONDO:0020155 Orphanet:98946 Orphanet:98564 obsolete eyelid border anomaly -MONDO:0020357 coloboma of eyelid MONDO:8000030 Orphanet:98946 Orphanet:377791 obsolete morphological anomaly -MONDO:0020359 congenital symblepharon MONDO:8000031 Orphanet:98948 Orphanet:557494 obsolete subtype of a disorder -MONDO:0020360 complete cryptophthalmia MONDO:8000031 Orphanet:98949 Orphanet:557494 obsolete subtype of a disorder -MONDO:0020361 partial cryptophthalmia MONDO:8000031 Orphanet:98950 Orphanet:557494 obsolete subtype of a disorder -MONDO:0020362 inverse Marcus-Gunn phenomenon MONDO:8000031 Orphanet:98951 Orphanet:557494 obsolete subtype of a disorder -MONDO:0020364 posterior polymorphous corneal dystrophy MONDO:0020216 Orphanet:98973 Orphanet:98631 obsolete secondary dysgenetic glaucoma -MONDO:0020367 juvenile open angle glaucoma MONDO:0015485 Orphanet:98977 Orphanet:156005 obsolete primary hereditary glaucoma -MONDO:0020368 Axenfeld anomaly MONDO:8000030 Orphanet:98978 Orphanet:377791 obsolete morphological anomaly -MONDO:0020369 Chandler syndrome MONDO:8000031 Orphanet:98979 Orphanet:557494 obsolete subtype of a disorder -MONDO:0020370 Cogan-Reese syndrome MONDO:8000031 Orphanet:98980 Orphanet:557494 obsolete subtype of a disorder -MONDO:0020371 essential iris atrophy MONDO:8000031 Orphanet:98981 Orphanet:557494 obsolete subtype of a disorder -MONDO:0020375 obsolete coralliform cataract MONDO:0020377 Orphanet:98990 Orphanet:98992 early-onset partial cataract -MONDO:0020377 early-onset partial cataract MONDO:8000031 Orphanet:98992 Orphanet:557494 obsolete subtype of a disorder -MONDO:0020380 autosomal dominant cerebellar ataxia MONDO:0020140 Orphanet:99 Orphanet:98540 obsolete late-onset ataxia with dementia -MONDO:0020385 congenitally uncorrected transposition of the great arteries with coarctation MONDO:8000031 Orphanet:99042 Orphanet:557494 obsolete subtype of a disorder -MONDO:0020386 double outlet right ventricle with subaortic or doubly committed ventricular septal defect with pulmonary stenosis MONDO:8000031 Orphanet:99043 Orphanet:557494 obsolete subtype of a disorder -MONDO:0020387 double outlet right ventricle with subpulmonary ventricular septal defect MONDO:8000031 Orphanet:99045 Orphanet:557494 obsolete subtype of a disorder -MONDO:0020388 double outlet right ventricle with non-committed subpulmonary ventricular septal defect MONDO:8000031 Orphanet:99046 Orphanet:557494 obsolete subtype of a disorder -MONDO:0020389 pulmonary valve agenesis-ventricular septal defect-persistent ductus arteriosus syndrome MONDO:8000032 Orphanet:99048 Orphanet:377789 obsolete malformation syndrome -MONDO:0020390 pulmonary artery coming from patent ductus arteriosus MONDO:8000030 Orphanet:99049 Orphanet:377791 obsolete morphological anomaly -MONDO:0020391 pulmonary artery coming from the aorta MONDO:0015930 Orphanet:99050 Orphanet:182111 obsolete respiratory malformation -MONDO:0020391 pulmonary artery coming from the aorta MONDO:8000030 Orphanet:99050 Orphanet:377791 obsolete morphological anomaly -MONDO:0020392 obsolete discrete fixed membranous subaortic stenosis MONDO:0017727 Orphanet:99051 Orphanet:3092 fixed subaortic stenosis -MONDO:0020392 obsolete discrete fixed membranous subaortic stenosis MONDO:8000031 Orphanet:99051 Orphanet:557494 obsolete subtype of a disorder -MONDO:0020393 discrete fibromuscular subaortic stenosis MONDO:8000031 Orphanet:99052 Orphanet:557494 obsolete subtype of a disorder -MONDO:0020394 tunnel subaortic stenosis MONDO:8000031 Orphanet:99053 Orphanet:557494 obsolete subtype of a disorder -MONDO:0020395 valvar pulmonary stenosis MONDO:8000031 Orphanet:99054 Orphanet:557494 obsolete subtype of a disorder -MONDO:0020396 anomaly of the tricuspid valve chordae MONDO:0019816 Orphanet:99055 Orphanet:95463 obsolete anomaly of the tricuspid subvalvular apparatus -MONDO:0020396 anomaly of the tricuspid valve chordae MONDO:8000030 Orphanet:99055 Orphanet:377791 obsolete morphological anomaly -MONDO:0020397 parachute tricuspid valve MONDO:0019816 Orphanet:99056 Orphanet:95463 obsolete anomaly of the tricuspid subvalvular apparatus -MONDO:0020397 parachute tricuspid valve MONDO:8000030 Orphanet:99056 Orphanet:377791 obsolete morphological anomaly -MONDO:0020398 congenital mitral stenosis MONDO:8000030 Orphanet:99057 Orphanet:377791 obsolete morphological anomaly -MONDO:0020399 congenital hypoplasia of the mitral valve annulus MONDO:8000030 Orphanet:99058 Orphanet:377791 obsolete morphological anomaly -MONDO:0020400 congenital supravalvular mitral ring MONDO:8000030 Orphanet:99059 Orphanet:377791 obsolete morphological anomaly -MONDO:0020401 congenital unguarded mitral orifice MONDO:8000030 Orphanet:99060 Orphanet:377791 obsolete morphological anomaly -MONDO:0020402 congenital accessory mitral valve tissue MONDO:8000030 Orphanet:99061 Orphanet:377791 obsolete morphological anomaly -MONDO:0020403 congenital mitral valve agenesis MONDO:8000030 Orphanet:99062 Orphanet:377791 obsolete morphological anomaly -MONDO:0020404 shone complex MONDO:8000032 Orphanet:99063 Orphanet:377789 obsolete malformation syndrome -MONDO:0020405 straddling and/or overriding mitral valve MONDO:8000031 Orphanet:99064 Orphanet:557494 obsolete subtype of a disorder -MONDO:0020407 complete atrioventricular canal-ventricle hypoplasia syndrome MONDO:8000031 Orphanet:99067 Orphanet:557494 obsolete subtype of a disorder -MONDO:0020408 complete atrioventricular canal-tetralogy of fallot syndrome MONDO:8000031 Orphanet:99068 Orphanet:557494 obsolete subtype of a disorder -MONDO:0020410 aorto-right ventricular tunnel MONDO:8000031 Orphanet:99070 Orphanet:557494 obsolete subtype of a disorder -MONDO:0020411 aorto-left ventricular tunnel MONDO:8000031 Orphanet:99071 Orphanet:557494 obsolete subtype of a disorder -MONDO:0020412 congenital patent ductus arteriosus aneurysm MONDO:0019822 Orphanet:99072 Orphanet:95485 obsolete arterial duct anomaly -MONDO:0020412 congenital patent ductus arteriosus aneurysm MONDO:8000030 Orphanet:99072 Orphanet:377791 obsolete morphological anomaly -MONDO:0020413 encircling double aortic arch MONDO:8000030 Orphanet:99075 Orphanet:377791 obsolete morphological anomaly -MONDO:0020414 persistent fifth aortic arch MONDO:8000030 Orphanet:99076 Orphanet:377791 obsolete morphological anomaly -MONDO:0020415 Kommerell diverticulum MONDO:8000030 Orphanet:99077 Orphanet:377791 obsolete morphological anomaly -MONDO:0020416 Neuhauser anomaly MONDO:8000030 Orphanet:99078 Orphanet:377791 obsolete morphological anomaly -MONDO:0020417 right aortic arch MONDO:8000030 Orphanet:99081 Orphanet:377791 obsolete morphological anomaly -MONDO:0020418 dysphagia lusoria MONDO:8000030 Orphanet:99082 Orphanet:377791 obsolete morphological anomaly -MONDO:0020419 pulmonary artery hypoplasia MONDO:0015930 Orphanet:99083 Orphanet:182111 obsolete respiratory malformation -MONDO:0020419 pulmonary artery hypoplasia MONDO:0020287 Orphanet:99083 Orphanet:98719 obsolete pulmonary artery or pulmonary branch anomaly -MONDO:0020419 pulmonary artery hypoplasia MONDO:8000030 Orphanet:99083 Orphanet:377791 obsolete morphological anomaly -MONDO:0020420 pulmonary branch stenosis MONDO:0020287 Orphanet:99084 Orphanet:98719 obsolete pulmonary artery or pulmonary branch anomaly -MONDO:0020420 pulmonary branch stenosis MONDO:8000030 Orphanet:99084 Orphanet:377791 obsolete morphological anomaly -MONDO:0020423 stenosis or atrophy of the coronary ostium MONDO:0035274 Orphanet:99087 Orphanet:542822 obsolete anomaly of the coronary ostia -MONDO:0020423 stenosis or atrophy of the coronary ostium MONDO:8000030 Orphanet:99087 Orphanet:377791 obsolete morphological anomaly -MONDO:0020425 abnormal number of coronary ostia MONDO:0035274 Orphanet:99089 Orphanet:542822 obsolete anomaly of the coronary ostia -MONDO:0020425 abnormal number of coronary ostia MONDO:8000030 Orphanet:99089 Orphanet:377791 obsolete morphological anomaly -MONDO:0020426 malposition of the coronary ostium MONDO:0035274 Orphanet:99090 Orphanet:542822 obsolete anomaly of the coronary ostia -MONDO:0020426 malposition of the coronary ostium MONDO:8000030 Orphanet:99090 Orphanet:377791 obsolete morphological anomaly -MONDO:0020427 Laubry-Pezzi syndrome MONDO:0018771 Orphanet:99094 Orphanet:474347 obsolete congenital anomaly of ventricular septum -MONDO:0020427 Laubry-Pezzi syndrome MONDO:8000030 Orphanet:99094 Orphanet:377791 obsolete morphological anomaly -MONDO:0020428 congenital Gerbode defect MONDO:8000030 Orphanet:99095 Orphanet:377791 obsolete morphological anomaly -MONDO:0020429 cor triatriatum dexter MONDO:8000030 Orphanet:99098 Orphanet:377791 obsolete morphological anomaly -MONDO:0020430 cor triatriatum sinister MONDO:8000030 Orphanet:99099 Orphanet:377791 obsolete morphological anomaly -MONDO:0020431 juxtaposition of the atrial appendages MONDO:0019837 Orphanet:99100 Orphanet:95510 obsolete atrial appendage anomaly -MONDO:0020431 juxtaposition of the atrial appendages MONDO:8000030 Orphanet:99100 Orphanet:377791 obsolete morphological anomaly -MONDO:0020432 ectasia of the right atrial appendage MONDO:0019837 Orphanet:99101 Orphanet:95510 obsolete atrial appendage anomaly -MONDO:0020432 ectasia of the right atrial appendage MONDO:8000030 Orphanet:99101 Orphanet:377791 obsolete morphological anomaly -MONDO:0020433 ectasia of the left appendage MONDO:0019837 Orphanet:99102 Orphanet:95510 obsolete atrial appendage anomaly -MONDO:0020433 ectasia of the left appendage MONDO:8000030 Orphanet:99102 Orphanet:377791 obsolete morphological anomaly -MONDO:0020434 atrial septal defect, ostium secundum type MONDO:8000031 Orphanet:99103 Orphanet:557494 obsolete subtype of a disorder -MONDO:0020435 atrial septal defect, coronary sinus type MONDO:8000031 Orphanet:99104 Orphanet:557494 obsolete subtype of a disorder -MONDO:0020436 atrial septal defect, sinus venosus type MONDO:8000031 Orphanet:99105 Orphanet:557494 obsolete subtype of a disorder -MONDO:0020437 atrial septal defect, ostium primum type MONDO:8000031 Orphanet:99106 Orphanet:557494 obsolete subtype of a disorder -MONDO:0020438 atrial septal aneurysm MONDO:0020294 Orphanet:99107 Orphanet:98727 obsolete atrial defect and interatrial communication -MONDO:0020438 atrial septal aneurysm MONDO:8000030 Orphanet:99107 Orphanet:377791 obsolete morphological anomaly -MONDO:0020440 persistent left superior vena cava connecting to the left-sided atrium MONDO:8000030 Orphanet:99109 Orphanet:377791 obsolete morphological anomaly -MONDO:0020441 right superior vena cava connecting to left-sided atrium MONDO:8000030 Orphanet:99110 Orphanet:377791 obsolete morphological anomaly -MONDO:0020442 left superior vena cava persisting to left-sided atrium MONDO:8000030 Orphanet:99111 Orphanet:377791 obsolete morphological anomaly -MONDO:0020443 absence of innominate vein MONDO:8000030 Orphanet:99112 Orphanet:377791 obsolete morphological anomaly -MONDO:0020444 subaortic course of innominate vein MONDO:8000030 Orphanet:99113 Orphanet:377791 obsolete morphological anomaly -MONDO:0020445 agenesis of the superior vena cava MONDO:8000030 Orphanet:99114 Orphanet:377791 obsolete morphological anomaly -MONDO:0020446 coronary sinus stenosis MONDO:0019831 Orphanet:99117 Orphanet:95500 obsolete congenital anomaly of the coronary sinus -MONDO:0020446 coronary sinus stenosis MONDO:8000030 Orphanet:99117 Orphanet:377791 obsolete morphological anomaly -MONDO:0020447 coronary sinus atresia MONDO:0019831 Orphanet:99118 Orphanet:95500 obsolete congenital anomaly of the coronary sinus -MONDO:0020447 coronary sinus atresia MONDO:8000030 Orphanet:99118 Orphanet:377791 obsolete morphological anomaly -MONDO:0020448 right inferior vena cava connecting to left-sided atrium MONDO:8000030 Orphanet:99119 Orphanet:377791 obsolete morphological anomaly -MONDO:0020449 persistent eustachian valve MONDO:8000030 Orphanet:99120 Orphanet:377791 obsolete morphological anomaly -MONDO:0020450 azygos continuation of the inferior vena cava MONDO:8000030 Orphanet:99121 Orphanet:377791 obsolete morphological anomaly -MONDO:0020451 congenital stenosis of the inferior vena cava MONDO:8000030 Orphanet:99122 Orphanet:377791 obsolete morphological anomaly -MONDO:0020452 inferior vena cava interruption MONDO:8000030 Orphanet:99123 Orphanet:377791 obsolete morphological anomaly -MONDO:0020453 congenital partial pulmonary venous return anomaly MONDO:8000030 Orphanet:99124 Orphanet:377791 obsolete morphological anomaly -MONDO:0020454 congenital complete agenesis of pericardium MONDO:8000030 Orphanet:99129 Orphanet:377791 obsolete morphological anomaly -MONDO:0020455 congenital partial agenesis of pericardium MONDO:8000030 Orphanet:99130 Orphanet:377791 obsolete morphological anomaly -MONDO:0020456 pleuro-pericardial cyst MONDO:8000030 Orphanet:99131 Orphanet:377791 obsolete morphological anomaly -MONDO:0020457 6-phosphogluconate dehydrogenase deficiency MONDO:0020105 Orphanet:99135 Orphanet:98370 obsolete hemolytic anemia due to hexose monophosphate shunt and glutathione metabolism anomalies -MONDO:0020458 hemolytic anemia due to erythrocyte adenosine deaminase overproduction MONDO:0020107 Orphanet:99138 Orphanet:98374 obsolete hemolytic anemia due to an erythrocyte nucleotide metabolism disorder -MONDO:0020460 acquired von willebrand syndrome MONDO:0015662 Orphanet:99147 Orphanet:166775 obsolete hemorrhagic disorder due to an acquired coagulation factor defect -MONDO:0020461 epiblepharon MONDO:0020158 Orphanet:99169 Orphanet:98567 obsolete eyelids malposition disorder -MONDO:0020461 epiblepharon MONDO:8000030 Orphanet:99169 Orphanet:377791 obsolete morphological anomaly -MONDO:0020462 tarsal kink syndrome MONDO:0034926 Orphanet:99170 Orphanet:519270 obsolete rare disorder with entropion -MONDO:0020462 tarsal kink syndrome MONDO:8000030 Orphanet:99170 Orphanet:377791 obsolete morphological anomaly -MONDO:0020463 isolated congenital ectropion MONDO:8000030 Orphanet:99171 Orphanet:377791 obsolete morphological anomaly -MONDO:0020464 euryblepharon MONDO:0020158 Orphanet:99172 Orphanet:98567 obsolete eyelids malposition disorder -MONDO:0020464 euryblepharon MONDO:8000030 Orphanet:99172 Orphanet:377791 obsolete morphological anomaly -MONDO:0020465 congenital eyelid retraction MONDO:0020152 Orphanet:99176 Orphanet:98561 obsolete rare eyelid malformation -MONDO:0020465 congenital eyelid retraction MONDO:8000030 Orphanet:99176 Orphanet:377791 obsolete morphological anomaly -MONDO:0020466 monosomy X MONDO:8000031 Orphanet:99226 Orphanet:557494 obsolete subtype of a disorder -MONDO:0020467 mosaic monosomy X MONDO:8000031 Orphanet:99228 Orphanet:557494 obsolete subtype of a disorder -MONDO:0020468 paternal uniparental disomy of chromosome 13 MONDO:0020057 Orphanet:99324 Orphanet:98154 obsolete uniparental disomy of paternal origin -MONDO:0020468 paternal uniparental disomy of chromosome 13 MONDO:8000032 Orphanet:99324 Orphanet:377789 obsolete malformation syndrome -MONDO:0020469 48,XYYY syndrome MONDO:0015620 Orphanet:99329 Orphanet:165707 obsolete syndromic urogenital tract malformation -MONDO:0020469 48,XYYY syndrome MONDO:0017005 Orphanet:99329 Orphanet:263746 obsolete Y chromosome number anomaly -MONDO:0020469 48,XYYY syndrome MONDO:0020090 Orphanet:99329 Orphanet:98313 obsolete male infertility due to gonadal dysgenesis -MONDO:0020469 48,XYYY syndrome MONDO:0035863 Orphanet:99329 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0020469 48,XYYY syndrome MONDO:8000032 Orphanet:99329 Orphanet:377789 obsolete malformation syndrome -MONDO:0020470 49,XYYYY syndrome MONDO:0017005 Orphanet:99330 Orphanet:263746 obsolete Y chromosome number anomaly -MONDO:0020470 49,XYYYY syndrome MONDO:0043008 Orphanet:99330 Orphanet:330206 obsolete genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability -MONDO:0020470 49,XYYYY syndrome MONDO:8000032 Orphanet:99330 Orphanet:377789 obsolete malformation syndrome -MONDO:0020472 Turner syndrome due to structural X chromosome anomalies MONDO:8000031 Orphanet:99413 Orphanet:557494 obsolete subtype of a disorder -MONDO:0020474 cheirospondyloenchondromatosis MONDO:0800089 Orphanet:99647 Orphanet:93450 obsolete primary bone dysplasia with disorganized development of skeletal components -MONDO:0020475 dermotrichic syndrome MONDO:8000032 Orphanet:99688 Orphanet:377789 obsolete malformation syndrome -MONDO:0020478 Leber plus disease MONDO:0016327 Orphanet:99718 Orphanet:217587 obsolete mitochondrial disease with hypertrophic cardiomyopathy -MONDO:0020478 Leber plus disease MONDO:0016335 Orphanet:99718 Orphanet:217613 obsolete mitochondrial disease with dilated cardiomyopathy -MONDO:0020478 Leber plus disease MONDO:0016793 Orphanet:99718 Orphanet:254776 obsolete mitochondrial oxidative phosphorylation disorder due to a point mutation of mitochondrial DNA -MONDO:0020480 sulfite oxidase deficiency due to molybdenum cofactor deficiency MONDO:0017760 Orphanet:99732 Orphanet:309833 obsolete disorder of other vitamins and cofactors metabolism and transport -MONDO:0020480 sulfite oxidase deficiency due to molybdenum cofactor deficiency MONDO:8000031 Orphanet:99732 Orphanet:557494 obsolete subtype of a disorder -MONDO:0020484 obsolete rare familial disorder with hypertrophic cardiomyopathy MONDO:0005045 Orphanet:99739 Orphanet:217569 hypertrophic cardiomyopathy -MONDO:0020484 obsolete rare familial disorder with hypertrophic cardiomyopathy MONDO:0020029 Orphanet:99739 Orphanet:98054 obsolete rare genetic cardiac disease -MONDO:0020485 King-Denborough syndrome MONDO:0015329 Orphanet:99741 Orphanet:139021 obsolete malformation syndrome with short stature -MONDO:0020485 King-Denborough syndrome MONDO:0018753 Orphanet:99741 Orphanet:466658 obsolete rare disease with malignant hyperthermia -MONDO:0020485 King-Denborough syndrome MONDO:0026187 Orphanet:99741 Orphanet:183570 obsolete genetic malformation syndrome with short stature -MONDO:0020485 King-Denborough syndrome MONDO:0035863 Orphanet:99741 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0020485 King-Denborough syndrome MONDO:8000032 Orphanet:99741 Orphanet:377789 obsolete malformation syndrome -MONDO:0020488 atypical progressive supranuclear palsy syndrome MONDO:8000031 Orphanet:99750 Orphanet:557494 obsolete subtype of a disorder -MONDO:0020490 mosaic trisomy 9 MONDO:0020051 Orphanet:99776 Orphanet:98131 obsolete total autosomal trisomy -MONDO:0020490 mosaic trisomy 9 MONDO:8000032 Orphanet:99776 Orphanet:377789 obsolete malformation syndrome -MONDO:0020491 subcortical band heterotopia MONDO:0015572 Orphanet:99796 Orphanet:163209 obsolete cerebral malformation due to abnormal neuronal migration -MONDO:0020491 subcortical band heterotopia MONDO:8000030 Orphanet:99796 Orphanet:377791 obsolete morphological anomaly -MONDO:0020492 hemimegalencephaly MONDO:0015655 Orphanet:99802 Orphanet:166478 obsolete cerebral malformation with epilepsy -MONDO:0020492 hemimegalencephaly MONDO:0016054 Orphanet:99802 Orphanet:199633 obsolete cerebral malformation -MONDO:0020492 hemimegalencephaly MONDO:0035162 Orphanet:99802 Orphanet:530313 obsolete PIK3CA-related overgrowth syndrome -MONDO:0020492 hemimegalencephaly MONDO:8000032 Orphanet:99802 Orphanet:377789 obsolete malformation syndrome -MONDO:0020493 Haddad syndrome MONDO:0015118 Orphanet:99803 Orphanet:101944 obsolete rare pulmonary disease -MONDO:0020493 Haddad syndrome MONDO:0015184 Orphanet:99803 Orphanet:104009 obsolete rare disease involving intestinal motility -MONDO:0020493 Haddad syndrome MONDO:0015510 Orphanet:99803 Orphanet:156610 obsolete rare genetic respiratory disease -MONDO:0020493 Haddad syndrome MONDO:0018497 Orphanet:99803 Orphanet:423662 obsolete rare autonomic nervous system disorder -MONDO:0020493 Haddad syndrome MONDO:0018557 Orphanet:99803 Orphanet:434786 obsolete rare genetic autonomic nervous system disorder -MONDO:0020493 Haddad syndrome MONDO:0020253 Orphanet:99803 Orphanet:98683 obsolete syndrome with a symptomatic strabismus -MONDO:0020493 Haddad syndrome MONDO:0035340 Orphanet:99803 Orphanet:557866 obsolete rare disorder with hirschsprung disease as a major feature -MONDO:0020493 Haddad syndrome MONDO:8000032 Orphanet:99803 Orphanet:377789 obsolete malformation syndrome -MONDO:0020494 oculootodental syndrome MONDO:0015336 Orphanet:99806 Orphanet:139042 obsolete malformation syndrome with odontal and/or periodontal component -MONDO:0020494 oculootodental syndrome MONDO:0026190 Orphanet:99806 Orphanet:183580 obsolete genetic malformation syndrome with odontal and/or periodontal component -MONDO:0020494 oculootodental syndrome MONDO:8000032 Orphanet:99806 Orphanet:377789 obsolete malformation syndrome -MONDO:0020495 PEHO-like syndrome MONDO:0035471 Orphanet:99807 Orphanet:568047 obsolete disorder with multisystemic involvement and primary lymphedema -MONDO:0020496 familial porencephaly MONDO:0018790 Orphanet:99810 Orphanet:477765 obsolete COL4A1 or COL4A2-related cerebral small vessel disease with hemorrhagic tendancy -MONDO:0020496 familial porencephaly MONDO:8000031 Orphanet:99810 Orphanet:557494 obsolete subtype of a disorder -MONDO:0020497 Turcot syndrome with polyposis MONDO:0016756 Orphanet:99818 Orphanet:252190 obsolete inherited nervous system cancer-predisposing syndrome -MONDO:0020497 Turcot syndrome with polyposis MONDO:8000031 Orphanet:99818 Orphanet:557494 obsolete subtype of a disorder -MONDO:0020504 hereditary recurrent myoglobinuria MONDO:0016117 Orphanet:99845 Orphanet:206953 obsolete muscular lipidosis -MONDO:0020504 hereditary recurrent myoglobinuria MONDO:0018120 Orphanet:99845 Orphanet:352312 obsolete disorder of phospholipids, sphingolipids and fatty acids biosynthesis with skeletal muscle predominant involvement -MONDO:0020504 hereditary recurrent myoglobinuria MONDO:0019602 Orphanet:99845 Orphanet:91088 obsolete other inborn metabolic disease -MONDO:0020506 obsolete ovarioleukodystrophy MONDO:0800448 Orphanet:99853 Orphanet:135 leukoencephalopathy with vanishing white matter -MONDO:0020506 obsolete ovarioleukodystrophy MONDO:8000031 Orphanet:99853 Orphanet:557494 obsolete subtype of a disorder -MONDO:0020507 leukoencephalopathy with vanishing white matter 1 MONDO:8000031 Orphanet:99854 Orphanet:557494 obsolete subtype of a disorder -MONDO:0020508 primary syringomyelia MONDO:0017085 Orphanet:99856 Orphanet:268843 obsolete malformation of the neurenteric canal, spinal cord and column -MONDO:0020508 primary syringomyelia MONDO:8000030 Orphanet:99856 Orphanet:377791 obsolete morphological anomaly -MONDO:0020510 idiopathic syringomyelia MONDO:8000031 Orphanet:99858 Orphanet:557494 obsolete subtype of a disorder -MONDO:0020516 thymic neuroendocrine carcinoma MONDO:0015081 Orphanet:99869 Orphanet:100101 obsolete neuroendocrine tumor with other location -MONDO:0020526 acute megakaryoblastic leukemia in down syndrome MONDO:8000031 Orphanet:99887 Orphanet:557494 obsolete subtype of a disorder -MONDO:0020528 ACTH-dependent Cushing syndrome MONDO:0018387 Orphanet:99892 Orphanet:399584 obsolete rare male infertility due to adrenal disorder -MONDO:0020528 ACTH-dependent Cushing syndrome MONDO:0018400 Orphanet:99892 Orphanet:399849 obsolete rare female infertility due to an adrenal disorder -MONDO:0020530 Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR1 deficiency MONDO:0017897 Orphanet:99898 Orphanet:319535 obsolete autosomal recessive mendelian susceptibility to mycobacterial diseases due to a complete deficiency -MONDO:0020532 spirillary rat-bite fever MONDO:8000031 Orphanet:99903 Orphanet:557494 obsolete subtype of a disorder -MONDO:0020533 streptobacillary rat-bite fever MONDO:8000031 Orphanet:99905 Orphanet:557494 obsolete subtype of a disorder -MONDO:0020537 obsolete occupational allergic alveolitis MONDO:0017853 Orphanet:99909 Orphanet:31740 hypersensitivity pneumonitis -MONDO:0020544 streptococcal toxic-shock syndrome MONDO:8000031 Orphanet:99918 Orphanet:557494 obsolete subtype of a disorder -MONDO:0020545 staphylococcal toxic-shock syndrome MONDO:8000031 Orphanet:99919 Orphanet:557494 obsolete subtype of a disorder -MONDO:0020546 acute graft versus host disease MONDO:8000031 Orphanet:99920 Orphanet:557494 obsolete subtype of a disorder -MONDO:0020547 chronic graft versus host disease MONDO:8000031 Orphanet:99921 Orphanet:557494 obsolete subtype of a disorder -MONDO:0020548 ocular pemphigoid MONDO:0020198 Orphanet:99922 Orphanet:98610 obsolete rare conjunctival disease -MONDO:0020553 secondary pulmonary hemosiderosis MONDO:0017034 Orphanet:99930 Orphanet:264944 obsolete secondary interstitial lung disease in childhood and adulthood -MONDO:0020554 Heiner syndrome MONDO:8000031 Orphanet:99932 Orphanet:557494 obsolete subtype of a disorder -MONDO:0020555 pleuropulmonary blastoma type 1 MONDO:8000031 Orphanet:99933 Orphanet:557494 obsolete subtype of a disorder -MONDO:0020556 pleuropulmonary blastoma type 2 MONDO:8000031 Orphanet:99934 Orphanet:557494 obsolete subtype of a disorder -MONDO:0020557 pleuropulmonary blastoma type 3 MONDO:8000031 Orphanet:99935 Orphanet:557494 obsolete subtype of a disorder -MONDO:0020560 atypical teratoid rhabdoid tumor MONDO:0016708 Orphanet:99966 Orphanet:251852 obsolete embryonal tumor of neuroepithelial tissue -MONDO:0020561 myxoid/round cell liposarcoma MONDO:8000031 Orphanet:99967 Orphanet:557494 obsolete subtype of a disorder -MONDO:0020562 pleomorphic liposarcoma MONDO:8000031 Orphanet:99969 Orphanet:557494 obsolete subtype of a disorder -MONDO:0020563 dedifferentiated liposarcoma MONDO:8000031 Orphanet:99970 Orphanet:557494 obsolete subtype of a disorder -MONDO:0020567 apnea of prematurity MONDO:0015118 Orphanet:99981 Orphanet:101944 obsolete rare pulmonary disease -MONDO:0020571 relapsing epidemic typhus MONDO:8000031 Orphanet:99991 Orphanet:557494 obsolete subtype of a disorder -MONDO:0020572 complex regional pain syndrome type 2 MONDO:8000031 Orphanet:99994 Orphanet:557494 obsolete subtype of a disorder -MONDO:0020603 X-linked chondrodysplasia punctata 2 MONDO:0020232 Orphanet:35173 Orphanet:98648 obsolete musculoskeletal disease with cataract -MONDO:0020659 upper tract urothelial carcinoma MONDO:0020032 Orphanet:598216 Orphanet:98058 obsolete rare urinary tract tumor -MONDO:0020667 Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis MONDO:8000031 Orphanet:596008 Orphanet:557494 obsolete subtype of a disorder -MONDO:0020693 glycogen storage disease due to liver phosphorylase kinase deficiency MONDO:0015115 Orphanet:264580 Orphanet:101940 obsolete rare genetic metabolic liver disease -MONDO:0020693 glycogen storage disease due to liver phosphorylase kinase deficiency MONDO:0018251 Orphanet:264580 Orphanet:370 obsolete glycogen storage disease due to phosphorylase kinase deficiency -MONDO:0020726 tubulointerstitial kidney disease, autosomal dominant, 2 MONDO:0022409 Orphanet:88949 Orphanet:156162 obsolete nephropathy-associated ciliopathy -MONDO:0020726 tubulointerstitial kidney disease, autosomal dominant, 2 MONDO:8000031 Orphanet:88949 Orphanet:557494 obsolete subtype of a disorder -MONDO:0020774 Menke-Hennekam syndrome MONDO:0015329 Orphanet:592574 Orphanet:139021 obsolete malformation syndrome with short stature -MONDO:0020774 Menke-Hennekam syndrome MONDO:0019721 Orphanet:592574 Orphanet:93547 obsolete syndromic renal or urinary tract malformation -MONDO:0020774 Menke-Hennekam syndrome MONDO:0026187 Orphanet:592574 Orphanet:183570 obsolete genetic malformation syndrome with short stature -MONDO:0020774 Menke-Hennekam syndrome MONDO:0035863 Orphanet:592574 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0020774 Menke-Hennekam syndrome MONDO:8000032 Orphanet:592574 Orphanet:377789 obsolete malformation syndrome -MONDO:0020781 encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 1 MONDO:0015918 Orphanet:555407 Orphanet:182070 obsolete rare neurodegenerative disease -MONDO:0020781 encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 1 MONDO:0019058 Orphanet:555407 Orphanet:68385 obsolete neurometabolic disease -MONDO:0020781 encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 1 MONDO:0019602 Orphanet:555407 Orphanet:91088 obsolete other inborn metabolic disease -MONDO:0020831 congenital vertebral-cardiac-renal anomalies syndrome MONDO:0015506 Orphanet:521438 Orphanet:156532 obsolete rare syndrome with cardiac malformations -MONDO:0020831 congenital vertebral-cardiac-renal anomalies syndrome MONDO:0019589 Orphanet:521438 Orphanet:90642 obsolete syndromic genetic hearing loss -MONDO:0020831 congenital vertebral-cardiac-renal anomalies syndrome MONDO:0019721 Orphanet:521438 Orphanet:93547 obsolete syndromic renal or urinary tract malformation -MONDO:0020831 congenital vertebral-cardiac-renal anomalies syndrome MONDO:0043008 Orphanet:521438 Orphanet:330206 obsolete genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability -MONDO:0020831 congenital vertebral-cardiac-renal anomalies syndrome MONDO:8000032 Orphanet:521438 Orphanet:377789 obsolete malformation syndrome -MONDO:0020999 obsolete genetic chronic primary adrenal insufficiency MONDO:0015129 Orphanet:101960 Orphanet:101959 chronic primary adrenal insufficiency -MONDO:0020999 obsolete genetic chronic primary adrenal insufficiency MONDO:0015971 Orphanet:101960 Orphanet:183637 obsolete rare genetic adrenal disease -MONDO:0021005 faciodigitogenital syndrome MONDO:0015329 Orphanet:915 Orphanet:139021 obsolete malformation syndrome with short stature -MONDO:0021005 faciodigitogenital syndrome MONDO:0015620 Orphanet:915 Orphanet:165707 obsolete syndromic urogenital tract malformation -MONDO:0021005 faciodigitogenital syndrome MONDO:0026187 Orphanet:915 Orphanet:183570 obsolete genetic malformation syndrome with short stature -MONDO:0021005 faciodigitogenital syndrome MONDO:0035863 Orphanet:915 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0021005 faciodigitogenital syndrome MONDO:8000032 Orphanet:915 Orphanet:377789 obsolete malformation syndrome -MONDO:0021020 Crigler-Najjar syndrome type 1 MONDO:8000031 Orphanet:79234 Orphanet:557494 obsolete subtype of a disorder -MONDO:0021022 hereditary hyperekplexia MONDO:0015957 Orphanet:3197 Orphanet:183521 obsolete rare genetic movement disorder -MONDO:0021022 hereditary hyperekplexia MONDO:0019058 Orphanet:3197 Orphanet:68385 obsolete neurometabolic disease -MONDO:0021022 hereditary hyperekplexia MONDO:0035862 Orphanet:3197 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome -MONDO:0021026 hereditary epidermal appendage anomaly MONDO:0019043 Orphanet:183447 Orphanet:68346 obsolete rare genetic skin disease -MONDO:0021027 obsolete genetic hair anomaly MONDO:0021026 Orphanet:183450 Orphanet:183447 hereditary epidermal appendage anomaly -MONDO:0021028 obsolete genetic nail anomaly MONDO:0021026 Orphanet:183454 Orphanet:183447 hereditary epidermal appendage anomaly -MONDO:0021034 obsolete hereditary alopecia MONDO:0021027 Orphanet:481771 Orphanet:183450 obsolete genetic hair anomaly -MONDO:0021037 obsolete genetic neurodegenerative disease with dementia MONDO:0015547 Orphanet:276058 Orphanet:158124 hereditary dementia -MONDO:0021037 obsolete genetic neurodegenerative disease with dementia MONDO:0024237 Orphanet:276058 Orphanet:183500 inherited neurodegenerative disorder -MONDO:0021042 glioma MONDO:0016679 Orphanet:182067 Orphanet:251558 obsolete rare tumor of neuroepithelial tissue -MONDO:0021055 classic familial adenomatous polyposis MONDO:0017128 Orphanet:733 Orphanet:271835 obsolete inherited digestive tract tumor -MONDO:0021055 classic familial adenomatous polyposis MONDO:0018188 Orphanet:733 Orphanet:363314 obsolete hereditary intestinal polyposis -MONDO:0021060 RASopathy MONDO:0021198 Orphanet:536391 Orphanet:98053 obsolete rare genetic disease -MONDO:0021102 prostate phyllodes tumor MONDO:0020032 Orphanet:498228 Orphanet:98058 obsolete rare urinary tract tumor -MONDO:0021106 laminopathy MONDO:0021198 Orphanet:98301 Orphanet:98053 obsolete rare genetic disease -MONDO:0021107 narcolepsy MONDO:0019045 Orphanet:619284 Orphanet:68354 obsolete rare sleep disorder -MONDO:0021133 acquired factor XIII deficiency MONDO:0015662 Orphanet:599513 Orphanet:166775 obsolete hemorrhagic disorder due to an acquired coagulation factor defect -MONDO:0021134 acquired factor X deficiency MONDO:0015662 Orphanet:599501 Orphanet:166775 obsolete hemorrhagic disorder due to an acquired coagulation factor defect -MONDO:0021154 dermis disorder MONDO:0019291 Orphanet:79381 Orphanet:79377 obsolete rare genetic dermis disorder -MONDO:0021172 Timothy syndrome, atypical type MONDO:8000031 Orphanet:595109 Orphanet:557494 obsolete subtype of a disorder -MONDO:0021176 autoimmune hepatitis type 2 MONDO:8000031 Orphanet:563581 Orphanet:557494 obsolete subtype of a disorder -MONDO:0021181 inherited blood coagulation disorder MONDO:0015549 Orphanet:183654 Orphanet:158300 obsolete rare genetic hematologic disease -MONDO:0021198 obsolete rare genetic disease MONDO:8000033 Orphanet:98053 Orphanet:557492 obsolete group of disorders -MONDO:0021227 adrenal gland neoplasm MONDO:0015124 Orphanet:100091 Orphanet:101954 obsolete rare adrenal disease -MONDO:0021227 adrenal gland neoplasm MONDO:0015936 Orphanet:100091 Orphanet:182130 obsolete rare tumor of endocrine glands -MONDO:0021272 inherited orthostatic hypotension MONDO:0035013 Orphanet:448426 Orphanet:521232 obsolete genetic primary orthostatic disorder -MONDO:0021548 total early-onset cataract MONDO:8000031 Orphanet:98994 Orphanet:557494 obsolete subtype of a disorder -MONDO:0021651 synpolydactyly MONDO:8000030 Orphanet:93403 Orphanet:377791 obsolete morphological anomaly -MONDO:0021660 deep seated dermatophytosis MONDO:0015578 Orphanet:397587 Orphanet:163591 obsolete rare mycosis -MONDO:0021690 obsolete congenital left ventricular aneurysm MONDO:0019512 Orphanet:1055 Orphanet:88991 congenital heart malformation -MONDO:0021690 obsolete congenital left ventricular aneurysm MONDO:8000032 Orphanet:1055 Orphanet:377789 obsolete malformation syndrome -MONDO:0022177 chromosome 13q trisomy MONDO:0020052 Orphanet:262932 Orphanet:98132 obsolete partial autosomal trisomy/tetrasomy -MONDO:0022397 obsolete retinal ciliopathy due to mutation in the retinitis pigmentosa-1 gene MONDO:0022410 Orphanet:156168 Orphanet:156165 retinal ciliopathy -MONDO:0022399 obsolete retinal ciliopathy due to mutation in the RPGR gene MONDO:0022410 Orphanet:156171 Orphanet:156165 retinal ciliopathy -MONDO:0022400 obsolete retinal ciliopathy due to mutation in the RPGRIP gene MONDO:0022410 Orphanet:156174 Orphanet:156165 retinal ciliopathy -MONDO:0022404 obsolete retinal ciliopathy due to mutation in Usher gene MONDO:0022410 Orphanet:156177 Orphanet:156165 retinal ciliopathy -MONDO:0022405 obsolete retinal ciliopathy due to mutation in nephronophthisis gene MONDO:0022410 Orphanet:156180 Orphanet:156165 retinal ciliopathy -MONDO:0022407 obsolete retinal ciliopathy due to mutation in Bardet-Biedl gene MONDO:0022410 Orphanet:156183 Orphanet:156165 retinal ciliopathy -MONDO:0022409 obsolete nephropathy-associated ciliopathy MONDO:0005308 Orphanet:156162 Orphanet:363250 ciliopathy -MONDO:0022760 chromosome 22q deletion MONDO:0020054 Orphanet:262182 Orphanet:98142 obsolete partial autosomal monosomy -MONDO:0022800 type 2 collagenopathy MONDO:0031799 Orphanet:93421 Orphanet:364803 obsolete rare bone disease related to a common gene or pathway defect -MONDO:0022825 congenital cystic eye MONDO:8000030 Orphanet:519384 Orphanet:377791 obsolete morphological anomaly -MONDO:0022851 Dennis-Fairhurst-Moore syndrome MONDO:0015329 Orphanet:2109 Orphanet:139021 obsolete malformation syndrome with short stature -MONDO:0022851 Dennis-Fairhurst-Moore syndrome MONDO:0019699 Orphanet:2109 Orphanet:93440 obsolete slender bone dysplasia -MONDO:0022851 Dennis-Fairhurst-Moore syndrome MONDO:0020234 Orphanet:2109 Orphanet:98650 obsolete craniofacial anomaly with cataract -MONDO:0022851 Dennis-Fairhurst-Moore syndrome MONDO:0026187 Orphanet:2109 Orphanet:183570 obsolete genetic malformation syndrome with short stature -MONDO:0022851 Dennis-Fairhurst-Moore syndrome MONDO:0035863 Orphanet:2109 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0022851 Dennis-Fairhurst-Moore syndrome MONDO:8000032 Orphanet:2109 Orphanet:377789 obsolete malformation syndrome -MONDO:0022986 diffuse idiopathic pulmonary neuroendocrine cell hyperplasia MONDO:0017027 Orphanet:617916 Orphanet:264740 obsolete primary interstitial lung disease specific to adulthood -MONDO:0023122 familial prostate carcinoma MONDO:0015511 Orphanet:1331 Orphanet:156619 obsolete rare genetic urogenital disease -MONDO:0023122 familial prostate carcinoma MONDO:0017130 Orphanet:1331 Orphanet:271844 obsolete genetic urogenital tumor -MONDO:0023122 familial prostate carcinoma MONDO:0020032 Orphanet:1331 Orphanet:98058 obsolete rare urinary tract tumor -MONDO:0023171 foix chavany Marie syndrome MONDO:8000032 Orphanet:2048 Orphanet:377789 obsolete malformation syndrome -MONDO:0023201 Fryns Smeets Thiry syndrome MONDO:0035863 Orphanet:2058 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0023201 Fryns Smeets Thiry syndrome MONDO:8000032 Orphanet:2058 Orphanet:377789 obsolete malformation syndrome -MONDO:0023275 Graham-Boyle-Troxell syndrome MONDO:0019721 Orphanet:2111 Orphanet:93547 obsolete syndromic renal or urinary tract malformation -MONDO:0023275 Graham-Boyle-Troxell syndrome MONDO:0019749 Orphanet:2111 Orphanet:93619 obsolete rare renal tumor -MONDO:0024145 obsolete Pierre Robin syndrome associated with collagen disease MONDO:0015319 Orphanet:138041 Orphanet:138044 obsolete rare disease with Pierre Robin syndrome -MONDO:0024145 obsolete Pierre Robin syndrome associated with collagen disease MONDO:0018187 Orphanet:138041 Orphanet:363294 obsolete hereditary syndromic Pierre Robin syndrome -MONDO:0024147 obsolete Pierre Robin syndrome associated with a chromosomal anomaly MONDO:0015319 Orphanet:138047 Orphanet:138044 obsolete rare disease with Pierre Robin syndrome -MONDO:0024147 obsolete Pierre Robin syndrome associated with a chromosomal anomaly MONDO:0018187 Orphanet:138047 Orphanet:363294 obsolete hereditary syndromic Pierre Robin syndrome -MONDO:0024148 obsolete Pierre Robin syndrome associated with branchial archs anomalies MONDO:0015319 Orphanet:138050 Orphanet:138044 obsolete rare disease with Pierre Robin syndrome -MONDO:0024148 obsolete Pierre Robin syndrome associated with branchial archs anomalies MONDO:0018187 Orphanet:138050 Orphanet:363294 obsolete hereditary syndromic Pierre Robin syndrome -MONDO:0024149 obsolete Pierre Robin syndrome associated with bone disease MONDO:0015319 Orphanet:138055 Orphanet:138044 obsolete rare disease with Pierre Robin syndrome -MONDO:0024149 obsolete Pierre Robin syndrome associated with bone disease MONDO:0018187 Orphanet:138055 Orphanet:363294 obsolete hereditary syndromic Pierre Robin syndrome -MONDO:0024237 inherited neurodegenerative disorder MONDO:0019117 Orphanet:183500 Orphanet:71859 obsolete genetic nervous system disorder -MONDO:0024252 global developmental delay-neuro-ophthalmological abnormalities-seizures-intellectual disability syndrome MONDO:0034962 Orphanet:488613 Orphanet:519343 obsolete rare ophthalmic disorder with cortical involvement -MONDO:0024252 global developmental delay-neuro-ophthalmological abnormalities-seizures-intellectual disability syndrome MONDO:0035862 Orphanet:488613 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome -MONDO:0024252 global developmental delay-neuro-ophthalmological abnormalities-seizures-intellectual disability syndrome MONDO:8000032 Orphanet:488613 Orphanet:377789 obsolete malformation syndrome -MONDO:0024257 hereditary motor neuron disease MONDO:0026167 Orphanet:98505 Orphanet:183497 obsolete genetic neuromuscular disease -MONDO:0024336 vulvar adenocarcinoma MONDO:8000031 Orphanet:494454 Orphanet:557494 obsolete subtype of a disorder -MONDO:0024471 obsolete non-inflammatory vasculopathy MONDO:0019048 Orphanet:496924 Orphanet:68362 obsolete rare vascular disease -MONDO:0024525 Fanconi renotubular syndrome 1 MONDO:0019744 Orphanet:3337 Orphanet:93603 obsolete rare renal tubular disease -MONDO:0024537 Brown-Vialetto-van Laere syndrome 1 MONDO:8000031 Orphanet:572543 Orphanet:557494 obsolete subtype of a disorder -MONDO:0024548 peeling skin syndrome 1 MONDO:8000031 Orphanet:263553 Orphanet:557494 obsolete subtype of a disorder -MONDO:0024557 ataxia-telangiectasia-like disorder 1 MONDO:0015945 Orphanet:251347 Orphanet:183422 obsolete polymalformative genetic syndrome with increased risk of developing cancer -MONDO:0024557 ataxia-telangiectasia-like disorder 1 MONDO:0016756 Orphanet:251347 Orphanet:252190 obsolete inherited nervous system cancer-predisposing syndrome -MONDO:0024557 ataxia-telangiectasia-like disorder 1 MONDO:0020045 Orphanet:251347 Orphanet:98097 obsolete autosomal recessive cerebellar ataxia due to a DNA repair defect -MONDO:0024557 ataxia-telangiectasia-like disorder 1 MONDO:0035862 Orphanet:251347 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome -MONDO:0024559 aortic aneurysm, familial thoracic 1 MONDO:0017311 Orphanet:229 Orphanet:285014 obsolete rare disease with thoracic aortic aneurysm and aortic dissection -MONDO:0024568 infantile liver failure syndrome 1 MONDO:0015114 Orphanet:370088 Orphanet:101939 obsolete rare parenchymal liver disease -MONDO:0024568 infantile liver failure syndrome 1 MONDO:0015508 Orphanet:370088 Orphanet:156604 obsolete hereditary parenchymatous liver disease -MONDO:0024609 vulvar squamous cell carcinoma MONDO:8000031 Orphanet:494448 Orphanet:557494 obsolete subtype of a disorder -MONDO:0024686 tenosynovial giant cell tumor, diffuse type MONDO:0015940 Orphanet:66627 Orphanet:182231 obsolete rare rheumatologic disease -MONDO:0024987 obsolete genetic urogenital tract malformation MONDO:0015511 Orphanet:156622 Orphanet:156619 obsolete rare genetic urogenital disease -MONDO:0025193 oculopharyngodistal myopathy MONDO:0016109 Orphanet:98897 Orphanet:206653 obsolete autosomal recessive distal myopathy -MONDO:0025193 oculopharyngodistal myopathy MONDO:0020169 Orphanet:98897 Orphanet:98578 obsolete rare disorder with ptosis -MONDO:0025511 obsolete inherited neuroendocrine tumor MONDO:0019041 Orphanet:271847 Orphanet:68336 obsolete rare genetic inherited tumor -MONDO:0025514 livedoid vasculopathy MONDO:0024471 Orphanet:542643 Orphanet:496924 obsolete non-inflammatory vasculopathy -MONDO:0025514 livedoid vasculopathy MONDO:0032013 Orphanet:542643 Orphanet:377792 obsolete clinical syndrome -MONDO:0026141 obsolete genetic urticaria MONDO:0019043 Orphanet:182734 Orphanet:68346 obsolete rare genetic skin disease -MONDO:0026150 obsolete genetic erythrokeratoderma MONDO:0015946 Orphanet:183438 Orphanet:183426 obsolete rare genetic epidermal disorder -MONDO:0026151 obsolete genetic acrokeratoderma MONDO:0015946 Orphanet:183441 Orphanet:183426 obsolete rare genetic epidermal disorder -MONDO:0026152 obsolete genetic porokeratosis MONDO:0015946 Orphanet:183444 Orphanet:183426 obsolete rare genetic epidermal disorder -MONDO:0026157 obsolete genetic pigmentation anomaly of the skin MONDO:0019043 Orphanet:183463 Orphanet:68346 obsolete rare genetic skin disease -MONDO:0026160 obsolete genetic dermis disorder MONDO:0019043 Orphanet:183472 Orphanet:68346 obsolete rare genetic skin disease -MONDO:0026166 obsolete genetic immune deficiency with skin involvement MONDO:0019043 Orphanet:183494 Orphanet:68346 obsolete rare genetic skin disease -MONDO:0026167 obsolete genetic neuromuscular disease MONDO:0019117 Orphanet:183497 Orphanet:71859 obsolete genetic nervous system disorder -MONDO:0026170 obsolete genetic central nervous system malformation MONDO:0015960 Orphanet:183506 Orphanet:183530 obsolete rare genetic developmental defect during embryogenesis -MONDO:0026170 obsolete genetic central nervous system malformation MONDO:0019117 Orphanet:183506 Orphanet:71859 obsolete genetic nervous system disorder -MONDO:0026173 obsolete rare genetic medullar disease MONDO:0019117 Orphanet:183515 Orphanet:71859 obsolete genetic nervous system disorder -MONDO:0026180 obsolete genetic congenital limb malformation MONDO:0015960 Orphanet:183536 Orphanet:183530 obsolete rare genetic developmental defect during embryogenesis -MONDO:0026181 obsolete genetic renal or urinary tract malformation MONDO:0015960 Orphanet:183539 Orphanet:183530 obsolete rare genetic developmental defect during embryogenesis -MONDO:0026181 obsolete genetic renal or urinary tract malformation MONDO:0020030 Orphanet:183539 Orphanet:98056 obsolete rare genetic renal disease -MONDO:0026182 obsolete genetic cranial malformation MONDO:0015960 Orphanet:183542 Orphanet:183530 obsolete rare genetic developmental defect during embryogenesis -MONDO:0026183 obsolete genetic digestive tract malformation MONDO:0015960 Orphanet:183545 Orphanet:183530 obsolete rare genetic developmental defect during embryogenesis -MONDO:0026184 obsolete genetic visceral malformation of the liver, biliary tract, pancreas or spleen MONDO:0015960 Orphanet:183548 Orphanet:183530 obsolete rare genetic developmental defect during embryogenesis -MONDO:0026185 obsolete genetic respiratory or mediastinal malformation MONDO:0015960 Orphanet:183554 Orphanet:183530 obsolete rare genetic developmental defect during embryogenesis -MONDO:0026186 obsolete genetic developmental defect of the eye MONDO:0015960 Orphanet:183557 Orphanet:183530 obsolete rare genetic developmental defect during embryogenesis -MONDO:0026187 obsolete genetic malformation syndrome with short stature MONDO:0015960 Orphanet:183570 Orphanet:183530 obsolete rare genetic developmental defect during embryogenesis -MONDO:0026188 obsolete genetic overgrowth/obesity syndrome MONDO:0015960 Orphanet:183573 Orphanet:183530 obsolete rare genetic developmental defect during embryogenesis -MONDO:0026189 obsolete genetic branchial arch or oral-acral syndrome MONDO:0015960 Orphanet:183576 Orphanet:183530 obsolete rare genetic developmental defect during embryogenesis -MONDO:0026190 obsolete genetic malformation syndrome with odontal and/or periodontal component MONDO:0015960 Orphanet:183580 Orphanet:183530 obsolete rare genetic developmental defect during embryogenesis -MONDO:0026192 obsolete genetic glomerular disease MONDO:0020030 Orphanet:183586 Orphanet:98056 obsolete rare genetic renal disease -MONDO:0026193 obsolete genetic thrombotic microangiopathy MONDO:0020030 Orphanet:183589 Orphanet:98056 obsolete rare genetic renal disease -MONDO:0026203 obsolete genetic respiratory malformation MONDO:0015510 Orphanet:183622 Orphanet:156610 obsolete rare genetic respiratory disease -MONDO:0026209 obsolete genetic polyendocrinopathy MONDO:0015513 Orphanet:183643 Orphanet:156638 obsolete rare genetic endocrine disease -MONDO:0026419 obsolete isolated corpus callosum agenesis MONDO:0016054 Orphanet:200 Orphanet:199633 obsolete cerebral malformation -MONDO:0026419 obsolete isolated corpus callosum agenesis MONDO:8000030 Orphanet:200 Orphanet:377791 obsolete morphological anomaly -MONDO:0026777 VEXAS syndrome MONDO:0015489 Orphanet:596753 Orphanet:156143 obsolete predominantly medium-vessel vasculitis -MONDO:0026777 VEXAS syndrome MONDO:0017370 Orphanet:596753 Orphanet:290842 obsolete autoinflammatory syndrome with skin involvement -MONDO:0026777 VEXAS syndrome MONDO:0017957 Orphanet:596753 Orphanet:324936 obsolete unclassified autoinflammatory syndrome -MONDO:0026989 obsolete syndrome associated with hypertrophic cardiomyopathy MONDO:0020484 Orphanet:217595 Orphanet:99739 obsolete rare familial disorder with hypertrophic cardiomyopathy -MONDO:0027652 5-fluorouracil toxicity MONDO:0032014 Orphanet:240839 Orphanet:377793 obsolete particular clinical situation in a disease or syndrome -MONDO:0027653 abacavir toxicity MONDO:0032014 Orphanet:240841 Orphanet:377793 obsolete particular clinical situation in a disease or syndrome -MONDO:0027655 allopurinol toxicity MONDO:0032014 Orphanet:240845 Orphanet:377793 obsolete particular clinical situation in a disease or syndrome -MONDO:0027664 cisplatin toxicity MONDO:0032014 Orphanet:240863 Orphanet:377793 obsolete particular clinical situation in a disease or syndrome -MONDO:0027666 codeine toxicity MONDO:0032014 Orphanet:240867 Orphanet:377793 obsolete particular clinical situation in a disease or syndrome -MONDO:0027667 efavirenz toxicity MONDO:0032014 Orphanet:240869 Orphanet:377793 obsolete particular clinical situation in a disease or syndrome -MONDO:0027668 flucloxacilline toxicity MONDO:0032014 Orphanet:240871 Orphanet:377793 obsolete particular clinical situation in a disease or syndrome -MONDO:0027675 irinotecan toxicity MONDO:0032014 Orphanet:240885 Orphanet:377793 obsolete particular clinical situation in a disease or syndrome -MONDO:0027677 isoniazid toxicity MONDO:0032014 Orphanet:240887 Orphanet:377793 obsolete particular clinical situation in a disease or syndrome -MONDO:0027687 raltegravir toxicity MONDO:0032014 Orphanet:240905 Orphanet:377793 obsolete particular clinical situation in a disease or syndrome -MONDO:0027696 voriconazole toxicity MONDO:0032014 Orphanet:240921 Orphanet:377793 obsolete particular clinical situation in a disease or syndrome -MONDO:0027749 serpinopathy MONDO:0021198 Orphanet:250805 Orphanet:98053 obsolete rare genetic disease -MONDO:0027750 obsolete serpinopathy with toxic serpin polymerization MONDO:0027749 Orphanet:250808 Orphanet:250805 serpinopathy -MONDO:0027751 obsolete serpinopathy with loss of serpin function MONDO:0027749 Orphanet:250811 Orphanet:250805 serpinopathy -MONDO:0027929 obsolete genetic polycythemia MONDO:0015549 Orphanet:250165 Orphanet:158300 obsolete rare genetic hematologic disease -MONDO:0028569 obsolete genetic interstitial lung disease MONDO:0015510 Orphanet:264992 Orphanet:156610 obsolete rare genetic respiratory disease -MONDO:0028618 obsolete gastroenteric neuroendocrine neoplasm MONDO:0024503 Orphanet:481508 Orphanet:100092 digestive system neuroendocrine neoplasm -MONDO:0028737 obsolete biliary atresia disorder MONDO:0015116 Orphanet:498345 Orphanet:101941 obsolete rare biliary tract disease -MONDO:0028795 obsolete rare genetic systemic or rheumatologic disease MONDO:0021198 Orphanet:271870 Orphanet:98053 obsolete rare genetic disease -MONDO:0028868 obsolete genetic frontotemporal degeneration with dementia MONDO:0021037 Orphanet:276061 Orphanet:276058 obsolete genetic neurodegenerative disease with dementia -MONDO:0029014 obsolete rare systemic or rheumatological disease of childhood MONDO:8000033 Orphanet:280342 Orphanet:557492 obsolete group of disorders MONDO:0029051 obsolete autosomal recessive nail dysplasia MONDO:0000001 Orphanet:280654 Orphanet:377788 disease -MONDO:0029051 obsolete autosomal recessive nail dysplasia MONDO:0019284 Orphanet:280654 Orphanet:79369 inherited isolated nail anomaly -MONDO:0029102 obsolete autosomal ichthyosis syndrome with other associated signs MONDO:0017270 Orphanet:281244 Orphanet:281217 obsolete autosomal ichthyosis syndrome -MONDO:0029136 muscular dystrophy, limb-girdle, autosomal recessive 23 MONDO:0016149 Orphanet:565837 Orphanet:207094 obsolete qualitative or quantitative defects of merosin -MONDO:0029810 obsolete laminopathy with striated muscle involvement MONDO:0021106 Orphanet:300755 Orphanet:98301 laminopathy -MONDO:0029811 obsolete laminopathy with peripheral neuropathy MONDO:0021106 Orphanet:300758 Orphanet:98301 laminopathy -MONDO:0029812 obsolete laminopathy with lipodystrophy MONDO:0021106 Orphanet:300763 Orphanet:98301 laminopathy -MONDO:0029813 obsolete laminopathy with premature aging MONDO:0021106 Orphanet:300766 Orphanet:98301 laminopathy -MONDO:0030006 combined oxidative phosphorylation deficiency 40 MONDO:0016327 Orphanet:570491 Orphanet:217587 obsolete mitochondrial disease with hypertrophic cardiomyopathy -MONDO:0030006 combined oxidative phosphorylation deficiency 40 MONDO:0018157 Orphanet:570491 Orphanet:35696 obsolete mitochondrial disorder due to a defect in mitochondrial protein synthesis -MONDO:0030045 Liberfarb syndrome MONDO:0015329 Orphanet:589442 Orphanet:139021 obsolete malformation syndrome with short stature -MONDO:0030045 Liberfarb syndrome MONDO:0019589 Orphanet:589442 Orphanet:90642 obsolete syndromic genetic hearing loss -MONDO:0030045 Liberfarb syndrome MONDO:0026187 Orphanet:589442 Orphanet:183570 obsolete genetic malformation syndrome with short stature -MONDO:0030045 Liberfarb syndrome MONDO:0034953 Orphanet:589442 Orphanet:519325 obsolete syndromic inherited retinal disorder -MONDO:0030045 Liberfarb syndrome MONDO:0035863 Orphanet:589442 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0030045 Liberfarb syndrome MONDO:0800086 Orphanet:589442 Orphanet:93441 obsolete primary bone dysplasia with multiple joint dislocations -MONDO:0030045 Liberfarb syndrome MONDO:8000032 Orphanet:589442 Orphanet:377789 obsolete malformation syndrome -MONDO:0030073 Mitchell syndrome MONDO:0015359 Orphanet:631248 Orphanet:140453 obsolete autosomal dominant hereditary demyelinating motor and sensory neuropathy -MONDO:0030073 Mitchell syndrome MONDO:0019589 Orphanet:631248 Orphanet:90642 obsolete syndromic genetic hearing loss -MONDO:0030074 spondylometaphyseal dysplasia with corneal dystrophy MONDO:0015506 Orphanet:589435 Orphanet:156532 obsolete rare syndrome with cardiac malformations -MONDO:0030074 spondylometaphyseal dysplasia with corneal dystrophy MONDO:0020215 Orphanet:589435 Orphanet:98628 obsolete syndromic corneal dystrophy -MONDO:0030074 spondylometaphyseal dysplasia with corneal dystrophy MONDO:0035863 Orphanet:589435 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0030074 spondylometaphyseal dysplasia with corneal dystrophy MONDO:8000032 Orphanet:589435 Orphanet:377789 obsolete malformation syndrome -MONDO:0030258 pontocerebellar hypoplasia, type 14 MONDO:0035863 Orphanet:613274 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0030258 pontocerebellar hypoplasia, type 14 MONDO:8000032 Orphanet:613274 Orphanet:377789 obsolete malformation syndrome -MONDO:0030767 obsolete genetic tumor of hematopoietic and lymphoid tissues MONDO:0019041 Orphanet:322126 Orphanet:68336 obsolete rare genetic inherited tumor -MONDO:0030894 AMED syndrome, digenic MONDO:0015329 Orphanet:611216 Orphanet:139021 obsolete malformation syndrome with short stature -MONDO:0030894 AMED syndrome, digenic MONDO:0026187 Orphanet:611216 Orphanet:183570 obsolete genetic malformation syndrome with short stature -MONDO:0030894 AMED syndrome, digenic MONDO:0035862 Orphanet:611216 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome -MONDO:0030912 intellectual disability, autosomal dominant 47 MONDO:0035863 Orphanet:502434 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0030912 intellectual disability, autosomal dominant 47 MONDO:8000032 Orphanet:502434 Orphanet:377789 obsolete malformation syndrome -MONDO:0030913 intellectual disability, autosomal dominant 48 MONDO:0016055 Orphanet:500159 Orphanet:199639 obsolete syndrome with corpus callosum agenesis /dysgenesis as a major feature -MONDO:0030913 intellectual disability, autosomal dominant 48 MONDO:0035863 Orphanet:500159 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0030913 intellectual disability, autosomal dominant 48 MONDO:8000032 Orphanet:500159 Orphanet:377789 obsolete malformation syndrome -MONDO:0030914 Clark-Baraitser syndrome MONDO:0016565 Orphanet:600731 Orphanet:240371 obsolete syndromic genetic obesity -MONDO:0030914 Clark-Baraitser syndrome MONDO:0035863 Orphanet:600731 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0030914 Clark-Baraitser syndrome MONDO:8000032 Orphanet:600731 Orphanet:377789 obsolete malformation syndrome -MONDO:0030947 neurodegeneration, childhood-onset, with hypotonia, respiratory insufficiency, and brain imaging abnormalities MONDO:0015918 Orphanet:610573 Orphanet:182070 obsolete rare neurodegenerative disease -MONDO:0030947 neurodegeneration, childhood-onset, with hypotonia, respiratory insufficiency, and brain imaging abnormalities MONDO:0016135 Orphanet:610573 Orphanet:207025 obsolete rare hereditary neurologic disease with peripheral neuropathy -MONDO:0030947 neurodegeneration, childhood-onset, with hypotonia, respiratory insufficiency, and brain imaging abnormalities MONDO:0035862 Orphanet:610573 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome -MONDO:0031004 obsolete genetic disorder of sex development of gynecological interest MONDO:0015980 Orphanet:325665 Orphanet:183731 obsolete rare genetic gynecological and obstetrical diseases -MONDO:0031007 spondyloepiphyseal dysplasia, sensorineural hearing loss, impaired intellectual development, and leber congenital amaurosis MONDO:0015329 Orphanet:611207 Orphanet:139021 obsolete malformation syndrome with short stature -MONDO:0031007 spondyloepiphyseal dysplasia, sensorineural hearing loss, impaired intellectual development, and leber congenital amaurosis MONDO:0019589 Orphanet:611207 Orphanet:90642 obsolete syndromic genetic hearing loss -MONDO:0031007 spondyloepiphyseal dysplasia, sensorineural hearing loss, impaired intellectual development, and leber congenital amaurosis MONDO:0026187 Orphanet:611207 Orphanet:183570 obsolete genetic malformation syndrome with short stature -MONDO:0031007 spondyloepiphyseal dysplasia, sensorineural hearing loss, impaired intellectual development, and leber congenital amaurosis MONDO:0032013 Orphanet:611207 Orphanet:377792 obsolete clinical syndrome -MONDO:0031007 spondyloepiphyseal dysplasia, sensorineural hearing loss, impaired intellectual development, and leber congenital amaurosis MONDO:0034953 Orphanet:611207 Orphanet:519325 obsolete syndromic inherited retinal disorder -MONDO:0031007 spondyloepiphyseal dysplasia, sensorineural hearing loss, impaired intellectual development, and leber congenital amaurosis MONDO:0035863 Orphanet:611207 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0031008 nephrotic syndrome, type 24 MONDO:0032013 Orphanet:567548 Orphanet:377792 obsolete clinical syndrome -MONDO:0031016 obsolete genetic disorder of sex development MONDO:0015511 Orphanet:325690 Orphanet:156619 obsolete rare genetic urogenital disease -MONDO:0031016 obsolete genetic disorder of sex development MONDO:0015513 Orphanet:325690 Orphanet:156638 obsolete rare genetic endocrine disease -MONDO:0031016 obsolete genetic disorder of sex development MONDO:0015960 Orphanet:325690 Orphanet:183530 obsolete rare genetic developmental defect during embryogenesis -MONDO:0031037 famililal cerebral cavernous malformations MONDO:0015145 Orphanet:221061 Orphanet:102006 obsolete neurovascular malformation -MONDO:0031037 famililal cerebral cavernous malformations MONDO:0016232 Orphanet:221061 Orphanet:211252 obsolete rare venous malformation -MONDO:0031037 famililal cerebral cavernous malformations MONDO:0018730 Orphanet:221061 Orphanet:459548 obsolete rare genetic venous malformation -MONDO:0031037 famililal cerebral cavernous malformations MONDO:0031949 Orphanet:221061 Orphanet:371436 obsolete genetic neurovascular malformation -MONDO:0031037 famililal cerebral cavernous malformations MONDO:8000032 Orphanet:221061 Orphanet:377789 obsolete malformation syndrome -MONDO:0031257 high altitude pulmonary edema MONDO:0015118 Orphanet:330012 Orphanet:101944 obsolete rare pulmonary disease -MONDO:0031257 high altitude pulmonary edema MONDO:0032014 Orphanet:330012 Orphanet:377793 obsolete particular clinical situation in a disease or syndrome -MONDO:0031322 triopia MONDO:8000030 Orphanet:3374 Orphanet:377791 obsolete morphological anomaly -MONDO:0031415 Carey-Fineman-Ziter syndrome MONDO:0015335 Orphanet:1358 Orphanet:139039 obsolete Mendelian syndromes with cleft lip/palate -MONDO:0031415 Carey-Fineman-Ziter syndrome MONDO:0035863 Orphanet:1358 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0031415 Carey-Fineman-Ziter syndrome MONDO:8000032 Orphanet:1358 Orphanet:377789 obsolete malformation syndrome -MONDO:0031421 Olmsted syndrome MONDO:0017670 Orphanet:659 Orphanet:307773 obsolete autosomal dominant diffuse mutilating palmoplantar keratoderma -MONDO:0031446 hypercholanemia, familial 1 MONDO:0015581 Orphanet:238475 Orphanet:163631 obsolete bile acid synthesis defect with cholestasis and malabsorption -MONDO:0031481 microcephaly, epilepsy, and diabetes syndrome 1 MONDO:0015655 Orphanet:306558 Orphanet:166478 obsolete cerebral malformation with epilepsy -MONDO:0031481 microcephaly, epilepsy, and diabetes syndrome 1 MONDO:0015888 Orphanet:306558 Orphanet:181381 obsolete other rare diabetes mellitus -MONDO:0031481 microcephaly, epilepsy, and diabetes syndrome 1 MONDO:0017119 Orphanet:306558 Orphanet:269528 obsolete syndrome with microcephaly as major feature -MONDO:0031689 obsolete genetic progeroid syndrome MONDO:0015960 Orphanet:363245 Orphanet:183530 obsolete rare genetic developmental defect during embryogenesis -MONDO:0031697 obsolete genetic intractable diarrhea of infancy MONDO:0015616 Orphanet:363300 Orphanet:165655 obsolete rare genetic intestinal disease -MONDO:0031698 obsolete genetic intestinal disease due to fat malabsorption MONDO:0015616 Orphanet:363306 Orphanet:165655 obsolete rare genetic intestinal disease -MONDO:0031799 obsolete rare bone disease related to a common gene or pathway defect MONDO:0015958 Orphanet:364803 Orphanet:183524 obsolete rare genetic bone disease -MONDO:0031949 obsolete genetic neurovascular malformation MONDO:0015953 Orphanet:371436 Orphanet:183503 obsolete genetic central nervous system and retinal vascular disease -MONDO:0031952 obsolete genetic syndromic esophageal malformation MONDO:0019513 Orphanet:371445 Orphanet:88993 obsolete esophageal malformation -MONDO:0032011 obsolete biological anomaly MONDO:8000034 Orphanet:377790 Orphanet:557493 obsolete disorder -MONDO:0032013 obsolete clinical syndrome MONDO:8000034 Orphanet:377792 Orphanet:557493 obsolete disorder -MONDO:0032014 obsolete particular clinical situation in a disease or syndrome MONDO:8000034 Orphanet:377793 Orphanet:557493 obsolete disorder -MONDO:0032221 obsolete rare disorder with female infertility due to a congenital hypogonadotropic hypogonadism MONDO:0018398 Orphanet:399846 Orphanet:399839 obsolete female infertility due to a congenital hypogonadotropic hypogonadism -MONDO:0032600 Snijders Blok-Campeau syndrome MONDO:0035863 Orphanet:599082 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0032600 Snijders Blok-Campeau syndrome MONDO:8000032 Orphanet:599082 Orphanet:377789 obsolete malformation syndrome -MONDO:0032601 inflammatory bowel disease, immunodeficiency, and encephalopathy MONDO:0033967 Orphanet:565788 Orphanet:529974 obsolete immune dysregulation with inflammatory bowel disease -MONDO:0032601 inflammatory bowel disease, immunodeficiency, and encephalopathy MONDO:0035862 Orphanet:565788 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome -MONDO:0032642 arthrogryposis, cleft palate, craniosynostosis, and impaired intellectual development MONDO:0035863 Orphanet:565858 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0032642 arthrogryposis, cleft palate, craniosynostosis, and impaired intellectual development MONDO:8000032 Orphanet:565858 Orphanet:377789 obsolete malformation syndrome -MONDO:0032643 pontocerebellar hypoplasia, type 12 MONDO:8000032 Orphanet:611256 Orphanet:377789 obsolete malformation syndrome -MONDO:0032653 cardiac-urogenital syndrome MONDO:0043008 Orphanet:647811 Orphanet:330206 obsolete genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability -MONDO:0032672 intellectual developmental disorder with cardiac defects and dysmorphic facies MONDO:0015506 Orphanet:562569 Orphanet:156532 obsolete rare syndrome with cardiac malformations -MONDO:0032672 intellectual developmental disorder with cardiac defects and dysmorphic facies MONDO:0035863 Orphanet:562569 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0032672 intellectual developmental disorder with cardiac defects and dysmorphic facies MONDO:8000032 Orphanet:562569 Orphanet:377789 obsolete malformation syndrome -MONDO:0032677 lissencephaly 9 with complex brainstem malformation MONDO:8000032 Orphanet:572013 Orphanet:377789 obsolete malformation syndrome -MONDO:0032678 developmental and epileptic encephalopathy, 71 MONDO:0016399 Orphanet:557064 Orphanet:225689 obsolete amino acid or protein metabolism disease with epilepsy -MONDO:0032678 developmental and epileptic encephalopathy, 71 MONDO:0019058 Orphanet:557064 Orphanet:68385 obsolete neurometabolic disease -MONDO:0032705 neurodevelopmental disorder with microcephaly, epilepsy, and hypomyelination MONDO:0016406 Orphanet:597874 Orphanet:225713 obsolete other metabolic disease with epilepsy -MONDO:0032705 neurodevelopmental disorder with microcephaly, epilepsy, and hypomyelination MONDO:0019058 Orphanet:597874 Orphanet:68385 obsolete neurometabolic disease -MONDO:0032705 neurodevelopmental disorder with microcephaly, epilepsy, and hypomyelination MONDO:0035862 Orphanet:597874 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome -MONDO:0032714 facial dysmorphism, hypertrichosis, epilepsy, intellectual/developmental delay, and gingival overgrowth syndrome MONDO:0015336 Orphanet:598603 Orphanet:139042 obsolete malformation syndrome with odontal and/or periodontal component -MONDO:0032714 facial dysmorphism, hypertrichosis, epilepsy, intellectual/developmental delay, and gingival overgrowth syndrome MONDO:0026190 Orphanet:598603 Orphanet:183580 obsolete genetic malformation syndrome with odontal and/or periodontal component -MONDO:0032714 facial dysmorphism, hypertrichosis, epilepsy, intellectual/developmental delay, and gingival overgrowth syndrome MONDO:0035863 Orphanet:598603 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0032714 facial dysmorphism, hypertrichosis, epilepsy, intellectual/developmental delay, and gingival overgrowth syndrome MONDO:8000032 Orphanet:598603 Orphanet:377789 obsolete malformation syndrome -MONDO:0032716 leukoencephalopathy, acute reversible, with increased urinary alpha-ketoglutarate MONDO:0019058 Orphanet:615964 Orphanet:68385 obsolete neurometabolic disease -MONDO:0032724 spondyloepimetaphyseal dysplasia with joint laxity, type 3 MONDO:0800086 Orphanet:642085 Orphanet:93441 obsolete primary bone dysplasia with multiple joint dislocations -MONDO:0032726 combined oxidative phosphorylation deficiency 39 MONDO:0018157 Orphanet:565624 Orphanet:35696 obsolete mitochondrial disorder due to a defect in mitochondrial protein synthesis -MONDO:0032726 combined oxidative phosphorylation deficiency 39 MONDO:0019058 Orphanet:565624 Orphanet:68385 obsolete neurometabolic disease -MONDO:0032726 combined oxidative phosphorylation deficiency 39 MONDO:0035862 Orphanet:565624 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome -MONDO:0032737 spastic paraplegia 80, autosomal dominant MONDO:0015088 Orphanet:631068 Orphanet:100980 obsolete autosomal dominant pure spastic paraplegia -MONDO:0032814 microangiopathy and leukoencephalopathy, pontine, autosomal dominant MONDO:0018789 Orphanet:477749 Orphanet:477762 obsolete COL4A1 or COL4A2-related cerebral small vessel disease with ischemic tendancy -MONDO:0032831 pontocerebellar hypoplasia, type 13 MONDO:0035863 Orphanet:613267 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0032831 pontocerebellar hypoplasia, type 13 MONDO:8000032 Orphanet:613267 Orphanet:377789 obsolete malformation syndrome -MONDO:0032906 spastic paraplegia 82, autosomal recessive MONDO:0015089 Orphanet:631073 Orphanet:100981 obsolete autosomal recessive complex spastic paraplegia -MONDO:0032931 pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome, neonatal lethal MONDO:0017118 Orphanet:615954 Orphanet:269523 obsolete syndrome with a cerebellar malformation as major feature -MONDO:0032931 pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome, neonatal lethal MONDO:0018731 Orphanet:615954 Orphanet:459787 obsolete lethal multiple congenital anomalies/dysmorphic syndrome -MONDO:0032931 pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome, neonatal lethal MONDO:0032013 Orphanet:615954 Orphanet:377792 obsolete clinical syndrome -MONDO:0033043 spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy MONDO:0035862 Orphanet:527497 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome -MONDO:0033056 obsolete genetic facial cleft MONDO:0015961 Orphanet:414726 Orphanet:183583 obsolete hereditary head and neck malformation -MONDO:0033135 Charcot-Marie-Tooth disease, demyelinating, type 1G MONDO:0015359 Orphanet:476394 Orphanet:140453 obsolete autosomal dominant hereditary demyelinating motor and sensory neuropathy -MONDO:0033169 curariform drugs toxicity MONDO:0032014 Orphanet:413693 Orphanet:377793 obsolete particular clinical situation in a disease or syndrome -MONDO:0033170 statin toxicity MONDO:0032014 Orphanet:413696 Orphanet:377793 obsolete particular clinical situation in a disease or syndrome -MONDO:0033181 phenytoin or carbamazepine toxicity MONDO:0032014 Orphanet:414750 Orphanet:377793 obsolete particular clinical situation in a disease or syndrome -MONDO:0033203 nephrotic syndrome 14 MONDO:0035683 Orphanet:506334 Orphanet:595337 obsolete adrenal hypoplasia congenita -MONDO:0033282 multiple mitochondrial dysfunctions syndrome 5 MONDO:0015918 Orphanet:569274 Orphanet:182070 obsolete rare neurodegenerative disease -MONDO:0033329 obsolete genetic precocious puberty MONDO:0015514 Orphanet:435554 Orphanet:156643 hereditary endocrine growth disease -MONDO:0033331 obsolete genetic precocious puberty in female MONDO:0016072 Orphanet:435564 Orphanet:202940 obsolete anomaly of puberty or/and menstrual cycle of genetic origin -MONDO:0033334 obsolete genetic nose and cavum anomaly MONDO:0018562 Orphanet:435606 Orphanet:435603 obsolete hereditary otorhinolaryngological malformation -MONDO:0033335 obsolete genetic larynx anomaly MONDO:0018562 Orphanet:435609 Orphanet:435603 obsolete hereditary otorhinolaryngological malformation -MONDO:0033336 obsolete genetic tracheal anomaly MONDO:0018562 Orphanet:435612 Orphanet:435603 obsolete hereditary otorhinolaryngological malformation -MONDO:0033481 spinocerebellar ataxia 46 MONDO:0016136 Orphanet:589522 Orphanet:207028 obsolete cerebellar ataxia with peripheral neuropathy -MONDO:0033613 neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities MONDO:0035862 Orphanet:641353 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome -MONDO:0033614 spastic paraplegia 83, autosomal recessive MONDO:0015090 Orphanet:631076 Orphanet:100982 obsolete autosomal recessive pure spastic paraplegia -MONDO:0033642 neurodevelopmental disorder with alopecia and brain abnormalities MONDO:0019058 Orphanet:544488 Orphanet:68385 obsolete neurometabolic disease -MONDO:0033642 neurodevelopmental disorder with alopecia and brain abnormalities MONDO:0035863 Orphanet:544488 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0033672 Duane anomaly-myopathy-scoliosis syndrome MONDO:0019711 Orphanet:50817 Orphanet:93454 obsolete dysostosis with predominant vertebral and costal involvement -MONDO:0033672 Duane anomaly-myopathy-scoliosis syndrome MONDO:0020253 Orphanet:50817 Orphanet:98683 obsolete syndrome with a symptomatic strabismus -MONDO:0033682 skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome MONDO:0035863 Orphanet:508533 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0033683 congenital progressive bone marrow failure-B-cell immunodeficiency-skeletal dysplasia syndrome MONDO:0017432 Orphanet:508542 Orphanet:294955 obsolete syndrome with limb reduction defects -MONDO:0033683 congenital progressive bone marrow failure-B-cell immunodeficiency-skeletal dysplasia syndrome MONDO:0035863 Orphanet:508542 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0033717 congenital cerebellar ataxia due to RNU12 mutation MONDO:0035862 Orphanet:512260 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome -MONDO:0033809 isolated blepharochalasis MONDO:0020158 Orphanet:519390 Orphanet:98567 obsolete eyelids malposition disorder -MONDO:0033850 autosomal recessive axonal charcot-marie-tooth disease due to copper metabolism defect MONDO:0019601 Orphanet:521411 Orphanet:91024 obsolete autosomal recessive axonal hereditary motor and sensory neuropathy -MONDO:0033853 congenital cataract-severe neonatal hepatopathy-global developmental delay syndrome MONDO:0015116 Orphanet:521432 Orphanet:101941 obsolete rare biliary tract disease -MONDO:0033853 congenital cataract-severe neonatal hepatopathy-global developmental delay syndrome MONDO:0015509 Orphanet:521432 Orphanet:156607 obsolete hereditary biliary tract disease -MONDO:0033853 congenital cataract-severe neonatal hepatopathy-global developmental delay syndrome MONDO:0020225 Orphanet:521432 Orphanet:98641 obsolete syndromic cataract -MONDO:0033856 LAMA5-related multisystemic syndrome MONDO:0028795 Orphanet:521450 Orphanet:271870 obsolete rare genetic systemic or rheumatologic disease -MONDO:0033862 primary autoimmune enteropathy MONDO:0019126 Orphanet:522037 Orphanet:73014 obsolete intractable diarrhea of infancy -MONDO:0033864 infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome MONDO:0020253 Orphanet:522077 Orphanet:98683 obsolete syndrome with a symptomatic strabismus -MONDO:0033864 infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome MONDO:0034641 Orphanet:522077 Orphanet:496916 obsolete rare genetic hyperkinetic movement disorder -MONDO:0033864 infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome MONDO:0035862 Orphanet:522077 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome -MONDO:0033864 infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome MONDO:0044636 Orphanet:522077 Orphanet:494457 obsolete rare hyperkinetic movement disorder -MONDO:0033925 pediatric-onset Graves disease MONDO:0015894 Orphanet:525731 Orphanet:181399 obsolete rare hyperthyroidism -MONDO:0033926 prepubertal anorexia nervosa MONDO:0015889 Orphanet:525738 Orphanet:181384 obsolete rare hypothalamic or pituitary disease -MONDO:0033926 prepubertal anorexia nervosa MONDO:0020016 Orphanet:525738 Orphanet:98033 obsolete rare neurologic disease with psychiatric involvement -MONDO:0033927 obsolete genetic complex vascular malformation with associated anomalies MONDO:0016229 Orphanet:459537 Orphanet:211240 obsolete hereditary vascular anomaly -MONDO:0033938 acute radiation syndrome MONDO:0032014 Orphanet:454831 Orphanet:377793 obsolete particular clinical situation in a disease or syndrome -MONDO:0033946 hereditary angioedema with C1Inh deficiency MONDO:0027751 Orphanet:528623 Orphanet:250811 obsolete serpinopathy with loss of serpin function MONDO:0033947 obsolete hereditary angioedema with normal C1Inh MONDO:0000001 Orphanet:528647 Orphanet:377788 disease -MONDO:0033947 obsolete hereditary angioedema with normal C1Inh MONDO:0019623 Orphanet:528647 Orphanet:91378 hereditary angioedema -MONDO:0033954 monoclonal mast cell activation syndrome MONDO:0019044 Orphanet:529468 Orphanet:68347 obsolete tumor of hematopoietic and lymphoid tissues -MONDO:0033967 obsolete immune dysregulation with inflammatory bowel disease MONDO:0015187 Orphanet:529974 Orphanet:104012 obsolete rare inflammatory bowel disease -MONDO:0033967 obsolete immune dysregulation with inflammatory bowel disease MONDO:0015616 Orphanet:529974 Orphanet:165655 obsolete rare genetic intestinal disease -MONDO:0033967 obsolete immune dysregulation with inflammatory bowel disease MONDO:0015710 Orphanet:529974 Orphanet:169361 obsolete immune dysregulation disease with immunodeficiency -MONDO:0033968 immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections-lymphopenia syndrome MONDO:0015940 Orphanet:529977 Orphanet:182231 obsolete rare rheumatologic disease -MONDO:0033968 immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections-lymphopenia syndrome MONDO:0028795 Orphanet:529977 Orphanet:271870 obsolete rare genetic systemic or rheumatologic disease -MONDO:0033968 immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections-lymphopenia syndrome MONDO:0033967 Orphanet:529977 Orphanet:529974 obsolete immune dysregulation with inflammatory bowel disease -MONDO:0033969 inflammatory bowel disease-recurrent sinopulmonary infections syndrome MONDO:0033967 Orphanet:529980 Orphanet:529974 obsolete immune dysregulation with inflammatory bowel disease MONDO:0034024 obsolete kyphoscoliotic Ehlers-Danlos syndrome MONDO:0000001 Orphanet:536545 Orphanet:377788 disease -MONDO:0034024 obsolete kyphoscoliotic Ehlers-Danlos syndrome MONDO:0020066 Orphanet:536545 Orphanet:98249 Ehlers-Danlos syndrome MONDO:0034028 obsolete symptomatic form of hemochromatosis type 1 MONDO:0000001 Orphanet:465508 Orphanet:377788 disease -MONDO:0034028 obsolete symptomatic form of hemochromatosis type 1 MONDO:0016363 Orphanet:465508 Orphanet:220489 obsolete rare hereditary hemochromatosis -MONDO:0034039 obsolete genetic hemoglobinopathy MONDO:0015972 Orphanet:466066 Orphanet:183651 obsolete rare constitutional anemia -MONDO:0034041 congenital axonal neuropathy with encephalopathy MONDO:0019601 Orphanet:538101 Orphanet:91024 obsolete autosomal recessive axonal hereditary motor and sensory neuropathy -MONDO:0034092 optic atrophy-ataxia-peripheral neuropathy-global developmental delay syndrome MONDO:0016133 Orphanet:543470 Orphanet:207018 obsolete rare hereditary metabolic disease with peripheral neuropathy -MONDO:0034092 optic atrophy-ataxia-peripheral neuropathy-global developmental delay syndrome MONDO:0017718 Orphanet:543470 Orphanet:309136 obsolete mitochondrial disorder due to a defect in assembly or maturation of the respiratory chain complexes -MONDO:0034092 optic atrophy-ataxia-peripheral neuropathy-global developmental delay syndrome MONDO:0018609 Orphanet:543470 Orphanet:441434 obsolete syndromic hereditary optic neuropathy -MONDO:0034092 optic atrophy-ataxia-peripheral neuropathy-global developmental delay syndrome MONDO:0019058 Orphanet:543470 Orphanet:68385 obsolete neurometabolic disease -MONDO:0034092 optic atrophy-ataxia-peripheral neuropathy-global developmental delay syndrome MONDO:0019589 Orphanet:543470 Orphanet:90642 obsolete syndromic genetic hearing loss -MONDO:0034092 optic atrophy-ataxia-peripheral neuropathy-global developmental delay syndrome MONDO:0035862 Orphanet:543470 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome -MONDO:0034099 SYNGAP1-related developmental and epileptic encephalopathy MONDO:0035862 Orphanet:544254 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome -MONDO:0034103 infection-related hemolytic uremic syndrome MONDO:0015911 Orphanet:544482 Orphanet:182047 obsolete rare acquired hemolytic anemia -MONDO:0034106 developmental and epileptic encephalopathy, 73 MONDO:0019589 Orphanet:544503 Orphanet:90642 obsolete syndromic genetic hearing loss -MONDO:0034106 developmental and epileptic encephalopathy, 73 MONDO:0035863 Orphanet:544503 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0034110 atypical Fanconi syndrome-neonatal hyperinsulinism syndrome MONDO:0015887 Orphanet:544628 Orphanet:181376 obsolete rare diabetes mellitus type 2 -MONDO:0034110 atypical Fanconi syndrome-neonatal hyperinsulinism syndrome MONDO:0019744 Orphanet:544628 Orphanet:93603 obsolete rare renal tubular disease -MONDO:0034121 NAD(P)HX dehydratase deficiency MONDO:0015918 Orphanet:555402 Orphanet:182070 obsolete rare neurodegenerative disease -MONDO:0034121 NAD(P)HX dehydratase deficiency MONDO:0019058 Orphanet:555402 Orphanet:68385 obsolete neurometabolic disease -MONDO:0034121 NAD(P)HX dehydratase deficiency MONDO:0019602 Orphanet:555402 Orphanet:91088 obsolete other inborn metabolic disease -MONDO:0034142 pancreatic agenesis-holoprosencephaly syndrome MONDO:0015214 Orphanet:556955 Orphanet:108973 obsolete syndromic visceral malformation -MONDO:0034142 pancreatic agenesis-holoprosencephaly syndrome MONDO:0017120 Orphanet:556955 Orphanet:269531 obsolete other syndrome with a central nervous system malformation as major feature -MONDO:0034142 pancreatic agenesis-holoprosencephaly syndrome MONDO:0035863 Orphanet:556955 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0034143 early-onset calcifying leukoencephalopathy-skeletal dysplasia MONDO:0015918 Orphanet:556985 Orphanet:182070 obsolete rare neurodegenerative disease -MONDO:0034145 oculocerebrodental syndrome MONDO:0019183 Orphanet:557003 Orphanet:77830 obsolete inherited odontologic disease -MONDO:0034145 oculocerebrodental syndrome MONDO:0019589 Orphanet:557003 Orphanet:90642 obsolete syndromic genetic hearing loss -MONDO:0034145 oculocerebrodental syndrome MONDO:0019705 Orphanet:557003 Orphanet:93447 obsolete primary bone dysplasia with defective bone mineralization -MONDO:0034145 oculocerebrodental syndrome MONDO:0020014 Orphanet:557003 Orphanet:98027 obsolete rare disease with odontological manifestation -MONDO:0034145 oculocerebrodental syndrome MONDO:0020225 Orphanet:557003 Orphanet:98641 obsolete syndromic cataract -MONDO:0034145 oculocerebrodental syndrome MONDO:0035863 Orphanet:557003 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0034146 spastic ataxia-dysarthria due to glutaminase deficiency MONDO:0019058 Orphanet:557056 Orphanet:68385 obsolete neurometabolic disease -MONDO:0034150 idiopathic gastroparesis MONDO:0015111 Orphanet:558411 Orphanet:101936 obsolete gastroesophageal disease -MONDO:0034189 primary biliary cholangitis/primary sclerosing cholangitis and autoimmune hepatitis overlap syndrome MONDO:0015114 Orphanet:562639 Orphanet:101939 obsolete rare parenchymal liver disease -MONDO:0034189 primary biliary cholangitis/primary sclerosing cholangitis and autoimmune hepatitis overlap syndrome MONDO:0015116 Orphanet:562639 Orphanet:101941 obsolete rare biliary tract disease -MONDO:0034204 syndromic congenital sodium diarrhea MONDO:0015178 Orphanet:563708 Orphanet:104003 obsolete congenital intestinal transport defect -MONDO:0034204 syndromic congenital sodium diarrhea MONDO:0019126 Orphanet:563708 Orphanet:73014 obsolete intractable diarrhea of infancy -MONDO:0034204 syndromic congenital sodium diarrhea MONDO:0031697 Orphanet:563708 Orphanet:363300 obsolete genetic intractable diarrhea of infancy -MONDO:0034212 methotrexate toxicity MONDO:0017633 Orphanet:565782 Orphanet:306640 obsolete rare intoxication due to medical products -MONDO:0034216 resistance to thyroid hormone due to a mutation in thyroid hormone receptor alpha MONDO:0035689 Orphanet:566231 Orphanet:596426 obsolete syndrome of reduced sensitivity to thyroid hormone MONDO:0034217 obsolete resistance to thyroid hormone due to a mutation in thyroid hormone receptor beta MONDO:0000001 Orphanet:566243 Orphanet:377788 disease -MONDO:0034217 obsolete resistance to thyroid hormone due to a mutation in thyroid hormone receptor beta MONDO:0035689 Orphanet:566243 Orphanet:596426 obsolete syndrome of reduced sensitivity to thyroid hormone -MONDO:0034443 obsolete genetic non-acquired premature ovarian failure MONDO:0015513 Orphanet:485382 Orphanet:156638 obsolete rare genetic endocrine disease -MONDO:0034443 obsolete genetic non-acquired premature ovarian failure MONDO:0016072 Orphanet:485382 Orphanet:202940 obsolete anomaly of puberty or/and menstrual cycle of genetic origin -MONDO:0034641 obsolete rare genetic hyperkinetic movement disorder MONDO:0015957 Orphanet:496916 Orphanet:183521 obsolete rare genetic movement disorder -MONDO:0034661 obsolete syndromic biliary atresia MONDO:0028737 Orphanet:498350 Orphanet:498345 obsolete biliary atresia disorder -MONDO:0034667 obsolete longitudinal limb defect MONDO:0019713 Orphanet:498457 Orphanet:93457 non-syndromic limb reduction defect -MONDO:0034668 obsolete terminal transverse limb defect MONDO:0019713 Orphanet:498461 Orphanet:93457 non-syndromic limb reduction defect -MONDO:0034669 obsolete non-syndromic preaxial polydactyly MONDO:0011348 Orphanet:498464 Orphanet:2913 non-syndromic polydactyly -MONDO:0034670 obsolete non-syndromic postaxial polydactyly MONDO:0011348 Orphanet:498467 Orphanet:2913 non-syndromic polydactyly -MONDO:0034671 obsolete non-syndromic complex polydactyly MONDO:0011348 Orphanet:498470 Orphanet:2913 non-syndromic polydactyly -MONDO:0034676 overgrowth syndrome with 2q37 translocation MONDO:0016998 Orphanet:498488 Orphanet:263708 obsolete complex chromosomal rearrangement -MONDO:0034676 overgrowth syndrome with 2q37 translocation MONDO:0800091 Orphanet:498488 Orphanet:498448 obsolete overgrowth or tall stature syndrome with skeletal involvement -MONDO:0034676 overgrowth syndrome with 2q37 translocation MONDO:8000032 Orphanet:498488 Orphanet:377789 obsolete malformation syndrome -MONDO:0034678 obsolete mirror-image polydactyly MONDO:0034671 Orphanet:498494 Orphanet:498470 obsolete non-syndromic complex polydactyly -MONDO:0034678 obsolete mirror-image polydactyly MONDO:8000030 Orphanet:498494 Orphanet:377791 obsolete morphological anomaly -MONDO:0034733 obsolete cochlear nerve deficiency MONDO:0015604 Orphanet:502318 Orphanet:164004 middle ear anomaly -MONDO:0034733 obsolete cochlear nerve deficiency MONDO:8000030 Orphanet:502318 Orphanet:377791 obsolete morphological anomaly -MONDO:0034819 obsolete familial intestinal malrotation MONDO:0015211 Orphanet:508410 Orphanet:108967 obsolete non-syndromic intestinal malformation -MONDO:0034819 obsolete familial intestinal malrotation MONDO:8000030 Orphanet:508410 Orphanet:377791 obsolete morphological anomaly -MONDO:0034820 cleft lip and palate-craniofacial dysmorphism-congenital heart defect-hearing loss syndrome MONDO:0015335 Orphanet:508476 Orphanet:139039 obsolete Mendelian syndromes with cleft lip/palate -MONDO:0034820 cleft lip and palate-craniofacial dysmorphism-congenital heart defect-hearing loss syndrome MONDO:0015506 Orphanet:508476 Orphanet:156532 obsolete rare syndrome with cardiac malformations -MONDO:0034820 cleft lip and palate-craniofacial dysmorphism-congenital heart defect-hearing loss syndrome MONDO:0019589 Orphanet:508476 Orphanet:90642 obsolete syndromic genetic hearing loss -MONDO:0034820 cleft lip and palate-craniofacial dysmorphism-congenital heart defect-hearing loss syndrome MONDO:0043008 Orphanet:508476 Orphanet:330206 obsolete genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability -MONDO:0034820 cleft lip and palate-craniofacial dysmorphism-congenital heart defect-hearing loss syndrome MONDO:8000032 Orphanet:508476 Orphanet:377789 obsolete malformation syndrome -MONDO:0034823 oral-facial-digital syndrome with short stature and brachymesophalangy MONDO:8000032 Orphanet:508501 Orphanet:377789 obsolete malformation syndrome -MONDO:0034846 primary desmosis coli MONDO:0015245 Orphanet:565641 Orphanet:117569 obsolete rare intestinal disease -MONDO:0034872 obsolete large granular lymphocyte leukemia MONDO:0015760 Orphanet:512034 Orphanet:171918 T-cell non-Hodgkin lymphoma -MONDO:0034895 congenital brachyesophagus-intrathoracic stomach-vertebral anomalies syndrome MONDO:0015208 Orphanet:514352 Orphanet:108961 obsolete syndromic esophageal malformation -MONDO:0034895 congenital brachyesophagus-intrathoracic stomach-vertebral anomalies syndrome MONDO:0031952 Orphanet:514352 Orphanet:371445 obsolete genetic syndromic esophageal malformation -MONDO:0034895 congenital brachyesophagus-intrathoracic stomach-vertebral anomalies syndrome MONDO:8000032 Orphanet:514352 Orphanet:377789 obsolete malformation syndrome -MONDO:0034901 obsolete ATP13A2-related parkinsonism MONDO:0017635 Orphanet:514980 Orphanet:306666 obsolete parkinsonian syndrome due to neurodegenerative disease -MONDO:0034901 obsolete ATP13A2-related parkinsonism MONDO:0017661 Orphanet:514980 Orphanet:307055 obsolete rare parkinsonian syndrome due to genetic neurodegenerative disease -MONDO:0034923 obsolete inflammatory/autoimmune disorder involving the lacrimal system MONDO:0020192 Orphanet:519264 Orphanet:98602 obsolete rare lacrimal system disease -MONDO:0034926 obsolete rare disorder with entropion MONDO:0020158 Orphanet:519270 Orphanet:98567 obsolete eyelids malposition disorder -MONDO:0034931 obsolete rare conjunctivitis MONDO:0020198 Orphanet:519280 Orphanet:98610 obsolete rare conjunctival disease -MONDO:0034937 obsolete syndromic ectopia lentis MONDO:0020236 Orphanet:519292 Orphanet:98653 obsolete lens position anomaly -MONDO:0034943 obsolete isolated vitreoretinopathy MONDO:0020246 Orphanet:519304 Orphanet:98668 inherited vitreoretinopathy -MONDO:0034953 obsolete syndromic inherited retinal disorder MONDO:0019118 Orphanet:519325 Orphanet:71862 inherited retinal dystrophy -MONDO:0034954 obsolete syndromic vitreoretinopathy MONDO:0020246 Orphanet:519327 Orphanet:98668 inherited vitreoretinopathy -MONDO:0034961 obsolete rare brainstem or cerebellar disorder with ophthalmic involvement as a major feature MONDO:0015368 Orphanet:519341 Orphanet:140653 obsolete neuro-ophthalmological disease -MONDO:0034962 obsolete rare ophthalmic disorder with cortical involvement MONDO:0015368 Orphanet:519343 Orphanet:140653 obsolete neuro-ophthalmological disease -MONDO:0034965 obsolete rare ophthalmic disorder with cranial nerve involvement MONDO:0015368 Orphanet:519349 Orphanet:140653 obsolete neuro-ophthalmological disease -MONDO:0034968 obsolete rare ocular motility/alignment disorder MONDO:0015368 Orphanet:519355 Orphanet:140653 obsolete neuro-ophthalmological disease -MONDO:0034971 isolated congenital entropion MONDO:0034926 Orphanet:519386 Orphanet:519270 obsolete rare disorder with entropion -MONDO:0034971 isolated congenital entropion MONDO:8000030 Orphanet:519386 Orphanet:377791 obsolete morphological anomaly -MONDO:0034977 obsolete isolated microspherophakia MONDO:0020235 Orphanet:519396 Orphanet:98652 obsolete lens size anomaly -MONDO:0034977 obsolete isolated microspherophakia MONDO:8000030 Orphanet:519396 Orphanet:377791 obsolete morphological anomaly -MONDO:0034978 isolated foveal hypoplasia MONDO:8000030 Orphanet:519398 Orphanet:377791 obsolete morphological anomaly -MONDO:0034979 obsolete peripapillary staphyloma MONDO:0850010 Orphanet:519400 Orphanet:519333 congenital optic disk excavation -MONDO:0034979 obsolete peripapillary staphyloma MONDO:8000030 Orphanet:519400 Orphanet:377791 obsolete morphological anomaly -MONDO:0034980 obsolete isolated megalopapilla MONDO:0850010 Orphanet:519402 Orphanet:519333 congenital optic disk excavation -MONDO:0034980 obsolete isolated megalopapilla MONDO:8000030 Orphanet:519402 Orphanet:377791 obsolete morphological anomaly -MONDO:0034981 obsolete optic disk pit MONDO:0850010 Orphanet:519404 Orphanet:519333 congenital optic disk excavation -MONDO:0034981 obsolete optic disk pit MONDO:8000030 Orphanet:519404 Orphanet:377791 obsolete morphological anomaly -MONDO:0034987 intraductal tubulopapillary neoplasm of pancreas MONDO:0018520 Orphanet:580572 Orphanet:424033 obsolete rare epithelial tumor of pancreas -MONDO:0034989 intellectual disability-cardiac anomalies-short stature-joint laxity syndrome MONDO:0015329 Orphanet:508498 Orphanet:139021 obsolete malformation syndrome with short stature -MONDO:0034989 intellectual disability-cardiac anomalies-short stature-joint laxity syndrome MONDO:0015506 Orphanet:508498 Orphanet:156532 obsolete rare syndrome with cardiac malformations -MONDO:0034989 intellectual disability-cardiac anomalies-short stature-joint laxity syndrome MONDO:0026187 Orphanet:508498 Orphanet:183570 obsolete genetic malformation syndrome with short stature -MONDO:0034989 intellectual disability-cardiac anomalies-short stature-joint laxity syndrome MONDO:0035863 Orphanet:508498 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0034989 intellectual disability-cardiac anomalies-short stature-joint laxity syndrome MONDO:8000032 Orphanet:508498 Orphanet:377789 obsolete malformation syndrome -MONDO:0035001 obsolete rare disorder of the visual organs MONDO:0020004 Orphanet:520814 Orphanet:97966 obsolete rare eye disease -MONDO:0035002 obsolete isolated inherited retinal disorder MONDO:0019118 Orphanet:520817 Orphanet:71862 inherited retinal dystrophy -MONDO:0035004 serine biosynthesis pathway deficiency, infantile/juvenile form MONDO:0035862 Orphanet:583595 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome -MONDO:0035008 isolated splenic vein thrombosis MONDO:0019997 Orphanet:583856 Orphanet:97935 obsolete rare gastroenterologic disease -MONDO:0035009 isolated mesenteric vein thrombosis MONDO:0015245 Orphanet:583861 Orphanet:117569 obsolete rare intestinal disease -MONDO:0035013 obsolete genetic primary orthostatic disorder MONDO:0019117 Orphanet:521232 Orphanet:71859 obsolete genetic nervous system disorder -MONDO:0035014 obsolete primary orthostatic disorder MONDO:0020009 Orphanet:521236 Orphanet:98006 obsolete rare neurologic disease -MONDO:0035018 frontonasal dysplasia-bifid nose-upper limb anomalies syndrome MONDO:8000032 Orphanet:521308 Orphanet:377789 obsolete malformation syndrome -MONDO:0035027 microcephaly-facial dysmorphism-ocular anomalies-multiple congenital anomalies syndrome MONDO:0015145 Orphanet:521445 Orphanet:102006 obsolete neurovascular malformation -MONDO:0035027 microcephaly-facial dysmorphism-ocular anomalies-multiple congenital anomalies syndrome MONDO:0019589 Orphanet:521445 Orphanet:90642 obsolete syndromic genetic hearing loss -MONDO:0035027 microcephaly-facial dysmorphism-ocular anomalies-multiple congenital anomalies syndrome MONDO:0031949 Orphanet:521445 Orphanet:371436 obsolete genetic neurovascular malformation -MONDO:0035027 microcephaly-facial dysmorphism-ocular anomalies-multiple congenital anomalies syndrome MONDO:8000032 Orphanet:521445 Orphanet:377789 obsolete malformation syndrome -MONDO:0035037 obsolete rare genetic disorder of the visual organs MONDO:0015107 Orphanet:522504 Orphanet:101435 obsolete rare genetic eye disease -MONDO:0035075 obsolete secondary early-onset glaucoma of genetic origin MONDO:0018174 Orphanet:522580 Orphanet:359 hereditary glaucoma -MONDO:0035105 diaphragmatic hernia-short bowel-asplenia syndrome MONDO:0015212 Orphanet:527468 Orphanet:108969 obsolete syndromic intestinal malformation -MONDO:0035105 diaphragmatic hernia-short bowel-asplenia syndrome MONDO:0015214 Orphanet:527468 Orphanet:108973 obsolete syndromic visceral malformation -MONDO:0035105 diaphragmatic hernia-short bowel-asplenia syndrome MONDO:0015216 Orphanet:527468 Orphanet:108979 obsolete syndromic diaphragmatic or abdominal wall malformation -MONDO:0035105 diaphragmatic hernia-short bowel-asplenia syndrome MONDO:0015880 Orphanet:527468 Orphanet:180779 obsolete syndromic diaphragmatic or thoracic malformation -MONDO:0035105 diaphragmatic hernia-short bowel-asplenia syndrome MONDO:0018731 Orphanet:527468 Orphanet:459787 obsolete lethal multiple congenital anomalies/dysmorphic syndrome -MONDO:0035105 diaphragmatic hernia-short bowel-asplenia syndrome MONDO:8000032 Orphanet:527468 Orphanet:377789 obsolete malformation syndrome -MONDO:0035112 acute myeloid leukemia with BCR-ABL1 MONDO:0020078 Orphanet:585867 Orphanet:98277 obsolete acute myeloid leukemia with recurrent genetic anomaly -MONDO:0035117 PUM1-associated developmental disability-ataxia-seizure syndrome MONDO:0035862 Orphanet:589515 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome -MONDO:0035122 GRIN2B-related developmental delay, intellectual disability and autism spectrum disorder MONDO:0015878 Orphanet:589547 Orphanet:180772 obsolete rare disease with autism -MONDO:0035122 GRIN2B-related developmental delay, intellectual disability and autism spectrum disorder MONDO:0035862 Orphanet:589547 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome -MONDO:0035124 linear hypopigmentation and craniofacial asymmetry with acral, ocular and brain anomalies MONDO:0015336 Orphanet:589608 Orphanet:139042 obsolete malformation syndrome with odontal and/or periodontal component -MONDO:0035124 linear hypopigmentation and craniofacial asymmetry with acral, ocular and brain anomalies MONDO:0800094 Orphanet:589608 Orphanet:498454 obsolete dysostosis with brachydactyly with extraskeletal manifestations -MONDO:0035133 PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome MONDO:0016565 Orphanet:589905 Orphanet:240371 obsolete syndromic genetic obesity -MONDO:0035133 PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome MONDO:0020016 Orphanet:589905 Orphanet:98033 obsolete rare neurologic disease with psychiatric involvement -MONDO:0035133 PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome MONDO:0035863 Orphanet:589905 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0035149 secondary erythromelalgia MONDO:0020009 Orphanet:529864 Orphanet:98006 obsolete rare neurologic disease -MONDO:0035151 17q24.2 microdeletion syndrome MONDO:0035863 Orphanet:529962 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0035151 17q24.2 microdeletion syndrome MONDO:8000032 Orphanet:529962 Orphanet:377789 obsolete malformation syndrome -MONDO:0035153 male infertility due to acephalic spermatozoa MONDO:8000031 Orphanet:529970 Orphanet:557494 obsolete subtype of a disorder -MONDO:0035159 dermoid or epidermoid cyst of the central nervous system MONDO:0017104 Orphanet:530033 Orphanet:269194 obsolete central nervous system cystic malformation -MONDO:0035159 dermoid or epidermoid cyst of the central nervous system MONDO:8000030 Orphanet:530033 Orphanet:377791 obsolete morphological anomaly -MONDO:0035161 progressive dementia with neuroserpin inclusion bodies MONDO:8000031 Orphanet:530303 Orphanet:557494 obsolete subtype of a disorder -MONDO:0035162 obsolete PIK3CA-related overgrowth syndrome MONDO:0019716 Orphanet:530313 Orphanet:93460 overgrowth syndrome -MONDO:0035173 9q21.13 microdeletion syndrome MONDO:0035862 Orphanet:531151 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome -MONDO:0035173 9q21.13 microdeletion syndrome MONDO:8000032 Orphanet:531151 Orphanet:377789 obsolete malformation syndrome -MONDO:0035220 PLG-related hereditary angioedema with normal C1inh MONDO:0033947 Orphanet:537072 Orphanet:528647 obsolete hereditary angioedema with normal C1Inh -MONDO:0035220 PLG-related hereditary angioedema with normal C1inh MONDO:8000031 Orphanet:537072 Orphanet:557494 obsolete subtype of a disorder -MONDO:0035235 classic pyoderma gangrenosum MONDO:8000031 Orphanet:538863 Orphanet:557494 obsolete subtype of a disorder -MONDO:0035236 pustular pyoderma gangrenosum MONDO:8000031 Orphanet:538866 Orphanet:557494 obsolete subtype of a disorder -MONDO:0035237 bullous pyoderma gangrenosum MONDO:8000031 Orphanet:538869 Orphanet:557494 obsolete subtype of a disorder -MONDO:0035238 vegetative pyoderma gangrenosum MONDO:8000031 Orphanet:538872 Orphanet:557494 obsolete subtype of a disorder -MONDO:0035249 obsolete anomalous aortic origin of the left coronary artery MONDO:0035251 Orphanet:541443 Orphanet:541478 obsolete anomalous aortic origin of coronary artery -MONDO:0035249 obsolete anomalous aortic origin of the left coronary artery MONDO:8000030 Orphanet:541443 Orphanet:377791 obsolete morphological anomaly -MONDO:0035250 obsolete anomalous aortic origin of the right coronary artery MONDO:0035251 Orphanet:541454 Orphanet:541478 obsolete anomalous aortic origin of coronary artery -MONDO:0035250 obsolete anomalous aortic origin of the right coronary artery MONDO:8000030 Orphanet:541454 Orphanet:377791 obsolete morphological anomaly -MONDO:0035251 obsolete anomalous aortic origin of coronary artery MONDO:0015203 Orphanet:541478 Orphanet:1081 coronary artery congenital malformation -MONDO:0035252 obsolete anomalous origin of coronary artery from the pulmonary artery MONDO:0015203 Orphanet:541507 Orphanet:1081 coronary artery congenital malformation -MONDO:0035252 obsolete anomalous origin of coronary artery from the pulmonary artery MONDO:8000030 Orphanet:541507 Orphanet:377791 obsolete morphological anomaly -MONDO:0035267 obsolete quadricuspid aortic valve MONDO:0020286 Orphanet:542568 Orphanet:98718 obsolete aortic malformation -MONDO:0035267 obsolete quadricuspid aortic valve MONDO:8000030 Orphanet:542568 Orphanet:377791 obsolete morphological anomaly -MONDO:0035274 obsolete anomaly of the coronary ostia MONDO:0015203 Orphanet:542822 Orphanet:1081 coronary artery congenital malformation -MONDO:0035290 atypical hemolytic uremic syndrome with complement gene abnormality MONDO:8000031 Orphanet:544472 Orphanet:557494 obsolete subtype of a disorder -MONDO:0035293 streptococcus pneumoniae-associated hemolytic uremic syndrome MONDO:8000031 Orphanet:544493 Orphanet:557494 obsolete subtype of a disorder -MONDO:0035295 congenital primary megaureter, refluxing and obstructed form MONDO:8000031 Orphanet:544578 Orphanet:557494 obsolete subtype of a disorder -MONDO:0035312 fibrohistiocytic inflammatory pseudotumor of the liver MONDO:8000031 Orphanet:555434 Orphanet:557494 obsolete subtype of a disorder -MONDO:0035313 lymphoplasmacytic inflammatory pseudotumor of the liver MONDO:8000031 Orphanet:555437 Orphanet:557494 obsolete subtype of a disorder -MONDO:0035314 obsolete congenital tricuspid valve dysplasia MONDO:0020289 Orphanet:555874 Orphanet:98721 congenital tricuspid malformation -MONDO:0035314 obsolete congenital tricuspid valve dysplasia MONDO:8000030 Orphanet:555874 Orphanet:377791 obsolete morphological anomaly -MONDO:0035320 early-onset familial hypoaldosteronism MONDO:8000031 Orphanet:556030 Orphanet:557494 obsolete subtype of a disorder -MONDO:0035321 late-onset familial hypoaldosteronism MONDO:8000031 Orphanet:556037 Orphanet:557494 obsolete subtype of a disorder -MONDO:0035328 obsolete rare disorder due to poisoning MONDO:0015224 Orphanet:556508 Orphanet:108999 obsolete rare intoxication -MONDO:0035337 Duane retraction syndrome with congenital deafness MONDO:0017120 Orphanet:529574 Orphanet:269531 obsolete other syndrome with a central nervous system malformation as major feature -MONDO:0035337 Duane retraction syndrome with congenital deafness MONDO:0019589 Orphanet:529574 Orphanet:90642 obsolete syndromic genetic hearing loss -MONDO:0035337 Duane retraction syndrome with congenital deafness MONDO:0034961 Orphanet:529574 Orphanet:519341 obsolete rare brainstem or cerebellar disorder with ophthalmic involvement as a major feature -MONDO:0035337 Duane retraction syndrome with congenital deafness MONDO:8000032 Orphanet:529574 Orphanet:377789 obsolete malformation syndrome -MONDO:0035340 obsolete rare disorder with hirschsprung disease as a major feature MONDO:0015212 Orphanet:557866 Orphanet:108969 obsolete syndromic intestinal malformation -MONDO:0035344 acute bilirubin encephalopathy MONDO:0032013 Orphanet:529799 Orphanet:377792 obsolete clinical syndrome -MONDO:0035345 chronic bilirubin encephalopathy MONDO:0032013 Orphanet:529808 Orphanet:377792 obsolete clinical syndrome -MONDO:0035350 letrozole toxicity MONDO:0017633 Orphanet:529831 Orphanet:306640 obsolete rare intoxication due to medical products -MONDO:0035350 letrozole toxicity MONDO:0032014 Orphanet:529831 Orphanet:377793 obsolete particular clinical situation in a disease or syndrome -MONDO:0035357 portosinusoidal vascular disease MONDO:0015113 Orphanet:596937 Orphanet:101938 obsolete rare vascular liver disease -MONDO:0035362 TRIM22-related inflammatory bowel disease MONDO:0015187 Orphanet:597201 Orphanet:104012 obsolete rare inflammatory bowel disease -MONDO:0035362 TRIM22-related inflammatory bowel disease MONDO:0015616 Orphanet:597201 Orphanet:165655 obsolete rare genetic intestinal disease -MONDO:0035370 ALPI-related inflammatory bowel disease MONDO:0015187 Orphanet:597887 Orphanet:104012 obsolete rare inflammatory bowel disease -MONDO:0035370 ALPI-related inflammatory bowel disease MONDO:0015616 Orphanet:597887 Orphanet:165655 obsolete rare genetic intestinal disease -MONDO:0035383 FOXG1 syndrome MONDO:0015680 Orphanet:561854 Orphanet:168778 obsolete rare pervasive developmental disorder -MONDO:0035383 FOXG1 syndrome MONDO:0017656 Orphanet:561854 Orphanet:306765 obsolete motor stereotypies -MONDO:0035383 FOXG1 syndrome MONDO:0035862 Orphanet:561854 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome MONDO:0035398 obsolete hypomyelination of early myelinating structures MONDO:0000001 Orphanet:599376 Orphanet:377788 disease -MONDO:0035398 obsolete hypomyelination of early myelinating structures MONDO:0019046 Orphanet:599376 Orphanet:68356 leukodystrophy -MONDO:0035398 obsolete hypomyelination of early myelinating structures MONDO:0035862 Orphanet:599376 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome -MONDO:0035398 obsolete hypomyelination of early myelinating structures MONDO:0100309 Orphanet:599376 Orphanet:183518 hereditary ataxia -MONDO:0035400 seronegative autoimmune hepatitis MONDO:8000031 Orphanet:563589 Orphanet:557494 obsolete subtype of a disorder -MONDO:0035401 isolated anencephaly MONDO:8000031 Orphanet:563609 Orphanet:557494 obsolete subtype of a disorder -MONDO:0035402 isolated exencephaly MONDO:8000031 Orphanet:563612 Orphanet:557494 obsolete subtype of a disorder -MONDO:0035403 serous cystadenoma of childhood MONDO:8000031 Orphanet:563666 Orphanet:557494 obsolete subtype of a disorder -MONDO:0035404 mucinous cystadenoma of childhood MONDO:8000031 Orphanet:563671 Orphanet:557494 obsolete subtype of a disorder -MONDO:0035405 seromucinous cystadenoma of childhood MONDO:8000031 Orphanet:563676 Orphanet:557494 obsolete subtype of a disorder -MONDO:0035406 furuncular myiasis due to Dermatobia hominis MONDO:8000031 Orphanet:563684 Orphanet:557494 obsolete subtype of a disorder -MONDO:0035407 furuncular myiasis due to Cordylobia anthropophaga MONDO:8000031 Orphanet:563687 Orphanet:557494 obsolete subtype of a disorder -MONDO:0035408 furuncular myiasis due to Cordylobia rodhaini MONDO:8000031 Orphanet:563690 Orphanet:557494 obsolete subtype of a disorder -MONDO:0035410 isolated congenital aglossia MONDO:8000031 Orphanet:563951 Orphanet:557494 obsolete subtype of a disorder -MONDO:0035411 isolated congenital hypoglossia MONDO:8000031 Orphanet:563954 Orphanet:557494 obsolete subtype of a disorder -MONDO:0035423 triglyceride deposit cardiomyovasculopathy MONDO:0019996 Orphanet:565612 Orphanet:97929 obsolete rare cardiac disease -MONDO:0035426 obsolete rare disorder potentially indicated for transplant or complication after transplantation MONDO:8000033 Orphanet:565779 Orphanet:557492 obsolete group of disorders -MONDO:0035432 POMGNT2-related limb-girdle muscular dystrophy R24 MONDO:0018284 Orphanet:565899 Orphanet:371047 obsolete congenital disorder of glycosylation with neurological involvement -MONDO:0035432 POMGNT2-related limb-girdle muscular dystrophy R24 MONDO:0035862 Orphanet:565899 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome -MONDO:0035433 calpain-3-related limb-girdle muscular dystrophy D4 MONDO:0016152 Orphanet:565909 Orphanet:207104 obsolete qualitative or quantitative defects of calpain -MONDO:0035437 CEBPE-associated autoinflammation-immunodeficiency-neutrophil dysfunction syndrome MONDO:0017369 Orphanet:566067 Orphanet:290839 obsolete autoinflammatory syndrome with immune deficiency -MONDO:0035441 congenital autosomal recessive small-platelet thrombocytopenia MONDO:0018796 Orphanet:566192 Orphanet:477797 obsolete isolated constitutional thrombocytopenia -MONDO:0035444 acute mast cell leukemia MONDO:8000031 Orphanet:566393 Orphanet:557494 obsolete subtype of a disorder -MONDO:0035445 chronic mast cell leukemia MONDO:8000031 Orphanet:566396 Orphanet:557494 obsolete subtype of a disorder -MONDO:0035447 liver adenomatosis MONDO:0017632 Orphanet:566841 Orphanet:306636 obsolete rare tumor of liver and intrahepatic biliary tract -MONDO:0035448 obsolete aprosencephaly/atelencephaly spectrum MONDO:0017090 Orphanet:566847 Orphanet:268926 obsolete midline cerebral malformation -MONDO:0035448 obsolete aprosencephaly/atelencephaly spectrum MONDO:0018731 Orphanet:566847 Orphanet:459787 obsolete lethal multiple congenital anomalies/dysmorphic syndrome -MONDO:0035448 obsolete aprosencephaly/atelencephaly spectrum MONDO:8000030 Orphanet:566847 Orphanet:377791 obsolete morphological anomaly -MONDO:0035449 atelencephaly MONDO:0035448 Orphanet:566852 Orphanet:566847 obsolete aprosencephaly/atelencephaly spectrum -MONDO:0035449 atelencephaly MONDO:8000031 Orphanet:566852 Orphanet:557494 obsolete subtype of a disorder -MONDO:0035450 aprosencephaly MONDO:0035448 Orphanet:566857 Orphanet:566847 obsolete aprosencephaly/atelencephaly spectrum -MONDO:0035450 aprosencephaly MONDO:8000031 Orphanet:566857 Orphanet:557494 obsolete subtype of a disorder -MONDO:0035451 obsolete left sided atrial isomerism MONDO:0017131 Orphanet:566862 Orphanet:271853 obsolete hereditary cardiac anomaly -MONDO:0035451 obsolete left sided atrial isomerism MONDO:0018677 Orphanet:566862 Orphanet:450 visceral heterotaxy -MONDO:0035451 obsolete left sided atrial isomerism MONDO:8000032 Orphanet:566862 Orphanet:377789 obsolete malformation syndrome -MONDO:0035454 B-cell immunodeficiency-limb anomaly-urogenital malformation syndrome MONDO:0015620 Orphanet:567502 Orphanet:165707 obsolete syndromic urogenital tract malformation -MONDO:0035454 B-cell immunodeficiency-limb anomaly-urogenital malformation syndrome MONDO:0017434 Orphanet:567502 Orphanet:294959 obsolete syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy -MONDO:0035454 B-cell immunodeficiency-limb anomaly-urogenital malformation syndrome MONDO:0043008 Orphanet:567502 Orphanet:330206 obsolete genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability -MONDO:0035459 idiopathic multidrug-resistant nephrotic syndrome MONDO:8000031 Orphanet:567550 Orphanet:557494 obsolete subtype of a disorder -MONDO:0035460 idiopathic steroid-resistant nephrotic syndrome with sensitivity to second-line immunosuppressive therapy MONDO:8000031 Orphanet:567552 Orphanet:557494 obsolete subtype of a disorder -MONDO:0035461 obsolete systemic disease with glomerulopathy as a major feature MONDO:0019722 Orphanet:567554 Orphanet:93548 glomerular disorder -MONDO:0035466 obsolete nephrotic syndrome without extrarenal manifestations MONDO:0019722 Orphanet:567564 Orphanet:93548 glomerular disorder -MONDO:0035469 obsolete primary lymphedema without systemic or visceral involvement MONDO:0019175 Orphanet:568041 Orphanet:77240 primary lymphedema -MONDO:0035470 obsolete primary lymphedema with systemic or visceral involvement MONDO:0019175 Orphanet:568044 Orphanet:77240 primary lymphedema -MONDO:0035471 obsolete disorder with multisystemic involvement and primary lymphedema MONDO:0019175 Orphanet:568047 Orphanet:77240 primary lymphedema -MONDO:0035473 warts-immunodeficiency-lymphedema-anogenital dysplasia syndrome MONDO:0018033 Orphanet:568056 Orphanet:331193 obsolete other immunodeficiency syndromes due to defects in innate immunity -MONDO:0035473 warts-immunodeficiency-lymphedema-anogenital dysplasia syndrome MONDO:0019305 Orphanet:568056 Orphanet:79391 obsolete immune deficiency with skin involvement -MONDO:0035473 warts-immunodeficiency-lymphedema-anogenital dysplasia syndrome MONDO:0026166 Orphanet:568056 Orphanet:183494 obsolete genetic immune deficiency with skin involvement -MONDO:0035473 warts-immunodeficiency-lymphedema-anogenital dysplasia syndrome MONDO:0035470 Orphanet:568056 Orphanet:568044 obsolete primary lymphedema with systemic or visceral involvement -MONDO:0035474 PIEZO1-related generalized lymphatic dysplasia with non-immune hydrops fetalis MONDO:0035470 Orphanet:568062 Orphanet:568044 obsolete primary lymphedema with systemic or visceral involvement -MONDO:0035475 EPHB4-related lymphatic-related hydrops fetalis MONDO:0020294 Orphanet:568065 Orphanet:98727 obsolete atrial defect and interatrial communication -MONDO:0035475 EPHB4-related lymphatic-related hydrops fetalis MONDO:0035470 Orphanet:568065 Orphanet:568044 obsolete primary lymphedema with systemic or visceral involvement -MONDO:0035511 ricin poisoning MONDO:0035328 Orphanet:570470 Orphanet:556508 obsolete rare disorder due to poisoning -MONDO:0035521 blepharophimosis-ptosis-epicanthus inversus syndrome plus MONDO:0017119 Orphanet:572333 Orphanet:269528 obsolete syndrome with microcephaly as major feature -MONDO:0035521 blepharophimosis-ptosis-epicanthus inversus syndrome plus MONDO:0020169 Orphanet:572333 Orphanet:98578 obsolete rare disorder with ptosis -MONDO:0035521 blepharophimosis-ptosis-epicanthus inversus syndrome plus MONDO:0035863 Orphanet:572333 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0035521 blepharophimosis-ptosis-epicanthus inversus syndrome plus MONDO:8000032 Orphanet:572333 Orphanet:377789 obsolete malformation syndrome -MONDO:0035524 blepharophimosis-ptosis-epicanthus inversus syndrome type 1 MONDO:0018401 Orphanet:572354 Orphanet:399853 obsolete female infertility due to an anomaly of ovarian function -MONDO:0035524 blepharophimosis-ptosis-epicanthus inversus syndrome type 1 MONDO:0018413 Orphanet:572354 Orphanet:400022 obsolete female infertility due to an anomaly of ovarian function of genetic origin -MONDO:0035524 blepharophimosis-ptosis-epicanthus inversus syndrome type 1 MONDO:0034443 Orphanet:572354 Orphanet:485382 obsolete genetic non-acquired premature ovarian failure -MONDO:0035524 blepharophimosis-ptosis-epicanthus inversus syndrome type 1 MONDO:8000031 Orphanet:572354 Orphanet:557494 obsolete subtype of a disorder -MONDO:0035525 blepharophimosis-ptosis-epicanthus inversus syndrome type 2 MONDO:8000031 Orphanet:572361 Orphanet:557494 obsolete subtype of a disorder -MONDO:0035529 infantile-onset pulmonary alveolar proteinosis-hypogammaglobulinemia MONDO:0015052 Orphanet:572428 Orphanet:100049 obsolete primary interstitial lung disease specific to childhood due to pulmonary surfactant protein anomalies -MONDO:0035529 infantile-onset pulmonary alveolar proteinosis-hypogammaglobulinemia MONDO:0017369 Orphanet:572428 Orphanet:290839 obsolete autoinflammatory syndrome with immune deficiency -MONDO:0035534 DONSON-related microcephaly-short stature-limb abnormalities spectrum MONDO:0015329 Orphanet:572761 Orphanet:139021 obsolete malformation syndrome with short stature -MONDO:0035534 DONSON-related microcephaly-short stature-limb abnormalities spectrum MONDO:0017950 Orphanet:572761 Orphanet:324761 obsolete microcephalic primordial dwarfism -MONDO:0035534 DONSON-related microcephaly-short stature-limb abnormalities spectrum MONDO:0019699 Orphanet:572761 Orphanet:93440 obsolete slender bone dysplasia -MONDO:0035534 DONSON-related microcephaly-short stature-limb abnormalities spectrum MONDO:0026187 Orphanet:572761 Orphanet:183570 obsolete genetic malformation syndrome with short stature -MONDO:0035534 DONSON-related microcephaly-short stature-limb abnormalities spectrum MONDO:8000032 Orphanet:572761 Orphanet:377789 obsolete malformation syndrome -MONDO:0035541 obsolete split cord malformation type II MONDO:0035542 Orphanet:573253 Orphanet:573278 obsolete split cord malformation -MONDO:0035541 obsolete split cord malformation type II MONDO:8000030 Orphanet:573253 Orphanet:377791 obsolete morphological anomaly -MONDO:0035542 obsolete split cord malformation MONDO:0017085 Orphanet:573278 Orphanet:268843 obsolete malformation of the neurenteric canal, spinal cord and column -MONDO:0035547 predisposition to severe viral infection due to IRF7 deficiency MONDO:0018545 Orphanet:574918 Orphanet:431156 obsolete primary immunodeficiency with predisposition to severe viral infection -MONDO:0035548 autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial jak1 deficiency MONDO:0017898 Orphanet:574957 Orphanet:319539 obsolete autosomal recessive mendelian susceptibility to mycobacterial diseases due to a partial deficiency -MONDO:0035551 cathepsin a-related arteriopathy-strokes-leukoencephalopathy MONDO:0018787 Orphanet:575553 Orphanet:477754 obsolete genetic cerebral small vessel disease -MONDO:0035551 cathepsin a-related arteriopathy-strokes-leukoencephalopathy MONDO:0020144 Orphanet:575553 Orphanet:98549 obsolete cerebrovascular dementia -MONDO:0035554 obsolete complete atrioventricular septal defect without ventricular hypoplasia MONDO:0015273 Orphanet:576227 Orphanet:1329 complete atrioventricular canal -MONDO:0035554 obsolete complete atrioventricular septal defect without ventricular hypoplasia MONDO:8000031 Orphanet:576227 Orphanet:557494 obsolete subtype of a disorder -MONDO:0035555 obsolete partial atrioventricular septal defect with ventricular hypoplasia MONDO:0015275 Orphanet:576232 Orphanet:1330 partial atrioventricular canal -MONDO:0035555 obsolete partial atrioventricular septal defect with ventricular hypoplasia MONDO:8000031 Orphanet:576232 Orphanet:557494 obsolete subtype of a disorder -MONDO:0035556 obsolete partial atrioventricular septal defect without ventricular hypoplasia MONDO:0015275 Orphanet:576235 Orphanet:1330 partial atrioventricular canal -MONDO:0035556 obsolete partial atrioventricular septal defect without ventricular hypoplasia MONDO:8000031 Orphanet:576235 Orphanet:557494 obsolete subtype of a disorder -MONDO:0035557 obsolete intermediate atrioventricular septal defect MONDO:0020290 Orphanet:576242 Orphanet:98722 familial atrioventricular septal defect -MONDO:0035557 obsolete intermediate atrioventricular septal defect MONDO:8000030 Orphanet:576242 Orphanet:377791 obsolete morphological anomaly -MONDO:0035561 obsolete sporadic human prion disease MONDO:0018926 Orphanet:576356 Orphanet:56970 human prion disease -MONDO:0035581 obsolete lethal brain and heart developmental defects MONDO:0015506 Orphanet:580933 Orphanet:156532 obsolete rare syndrome with cardiac malformations -MONDO:0035581 obsolete lethal brain and heart developmental defects MONDO:0017118 Orphanet:580933 Orphanet:269523 obsolete syndrome with a cerebellar malformation as major feature -MONDO:0035581 obsolete lethal brain and heart developmental defects MONDO:0018731 Orphanet:580933 Orphanet:459787 obsolete lethal multiple congenital anomalies/dysmorphic syndrome -MONDO:0035581 obsolete lethal brain and heart developmental defects MONDO:0043009 Orphanet:580933 Orphanet:471383 hereditary lethal multiple congenital anomalies/dysmorphic syndrome -MONDO:0035581 obsolete lethal brain and heart developmental defects MONDO:8000032 Orphanet:580933 Orphanet:377789 obsolete malformation syndrome -MONDO:0035584 punctate inner choroidopathy MONDO:0019541 Orphanet:580951 Orphanet:90061 obsolete non-infectious posterior uveitis -MONDO:0035586 Cramp-fasciculation syndrome MONDO:0018497 Orphanet:581271 Orphanet:423662 obsolete rare autonomic nervous system disorder -MONDO:0035586 Cramp-fasciculation syndrome MONDO:0018557 Orphanet:581271 Orphanet:434786 obsolete rare genetic autonomic nervous system disorder -MONDO:0035586 Cramp-fasciculation syndrome MONDO:0038268 Orphanet:581271 Orphanet:98750 obsolete autoimmune neurological channelopathy -MONDO:0035592 congenital infiltrating lipomatosis of the face MONDO:0035162 Orphanet:583097 Orphanet:530313 obsolete PIK3CA-related overgrowth syndrome -MONDO:0035605 B-lymphoblastic leukemia/lymphoma with recurrent genetic abnormality MONDO:8000031 Orphanet:585877 Orphanet:557494 obsolete subtype of a disorder -MONDO:0035614 sporadic fatal insomnia MONDO:0035561 Orphanet:586130 Orphanet:576356 obsolete sporadic human prion disease -MONDO:0035639 mixed phenotype acute leukemia with t(9;22)(q34.1;q11.2) MONDO:8000031 Orphanet:589534 Orphanet:557494 obsolete subtype of a disorder -MONDO:0035642 mixed phenotype acute leukemia with t(v;11q23.3) MONDO:8000031 Orphanet:589595 Orphanet:557494 obsolete subtype of a disorder -MONDO:0035645 obsolete inherited gynecological cancer-predisposing syndrome MONDO:0015356 Orphanet:589746 Orphanet:140162 hereditary neoplastic syndrome -MONDO:0035646 congenital-onset Steinert myotonic dystrophy MONDO:0035862 Orphanet:589821 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome -MONDO:0035646 congenital-onset Steinert myotonic dystrophy MONDO:8000031 Orphanet:589821 Orphanet:557494 obsolete subtype of a disorder -MONDO:0035647 childhood-onset Steinert myotonic dystrophy MONDO:0035862 Orphanet:589824 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome -MONDO:0035647 childhood-onset Steinert myotonic dystrophy MONDO:8000031 Orphanet:589824 Orphanet:557494 obsolete subtype of a disorder -MONDO:0035648 juvenile-onset Steinert myotonic dystrophy MONDO:0035862 Orphanet:589827 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome -MONDO:0035648 juvenile-onset Steinert myotonic dystrophy MONDO:8000031 Orphanet:589827 Orphanet:557494 obsolete subtype of a disorder -MONDO:0035649 adult-onset Steinert myotonic dystrophy MONDO:0035862 Orphanet:589830 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome -MONDO:0035649 adult-onset Steinert myotonic dystrophy MONDO:8000031 Orphanet:589830 Orphanet:557494 obsolete subtype of a disorder -MONDO:0035650 late-onset Steinert myotonic dystrophy MONDO:8000031 Orphanet:589833 Orphanet:557494 obsolete subtype of a disorder -MONDO:0035651 choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome MONDO:0015503 Orphanet:589856 Orphanet:156246 obsolete nose and cavum anomaly -MONDO:0035651 choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome MONDO:0015778 Orphanet:589856 Orphanet:177107 obsolete syndromic hypothyroidism -MONDO:0035651 choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome MONDO:0015895 Orphanet:589856 Orphanet:181402 obsolete syndrome with hypoparathyroidism -MONDO:0035651 choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome MONDO:0019589 Orphanet:589856 Orphanet:90642 obsolete syndromic genetic hearing loss -MONDO:0035651 choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome MONDO:0033334 Orphanet:589856 Orphanet:435606 obsolete genetic nose and cavum anomaly -MONDO:0035651 choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome MONDO:0035863 Orphanet:589856 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0035651 choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome MONDO:8000032 Orphanet:589856 Orphanet:377789 obsolete malformation syndrome -MONDO:0035660 GNAO1-related developmental delay-seizures-movement disorder spectrum MONDO:0034641 Orphanet:592564 Orphanet:496916 obsolete rare genetic hyperkinetic movement disorder -MONDO:0035660 GNAO1-related developmental delay-seizures-movement disorder spectrum MONDO:0035862 Orphanet:592564 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome -MONDO:0035660 GNAO1-related developmental delay-seizures-movement disorder spectrum MONDO:0044636 Orphanet:592564 Orphanet:494457 obsolete rare hyperkinetic movement disorder -MONDO:0035661 TRAF7-associated heart defect-digital anomalies-facial dysmorphism-motor and speech delay syndrome MONDO:0015226 Orphanet:592570 Orphanet:109009 obsolete syndrome with limb malformations as a major feature -MONDO:0035661 TRAF7-associated heart defect-digital anomalies-facial dysmorphism-motor and speech delay syndrome MONDO:0015506 Orphanet:592570 Orphanet:156532 obsolete rare syndrome with cardiac malformations -MONDO:0035661 TRAF7-associated heart defect-digital anomalies-facial dysmorphism-motor and speech delay syndrome MONDO:0017120 Orphanet:592570 Orphanet:269531 obsolete other syndrome with a central nervous system malformation as major feature -MONDO:0035661 TRAF7-associated heart defect-digital anomalies-facial dysmorphism-motor and speech delay syndrome MONDO:0035863 Orphanet:592570 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0035661 TRAF7-associated heart defect-digital anomalies-facial dysmorphism-motor and speech delay syndrome MONDO:8000032 Orphanet:592570 Orphanet:377789 obsolete malformation syndrome -MONDO:0035663 neuromyelitis optica spectrum disorder with anti-AQP4 antibodies MONDO:8000031 Orphanet:592850 Orphanet:557494 obsolete subtype of a disorder -MONDO:0035664 neuromyelitis optica spectrum disorder with anti-MOG antibodies MONDO:8000031 Orphanet:592856 Orphanet:557494 obsolete subtype of a disorder -MONDO:0035665 neuromyelitis optica spectrum disorder without anti-MOG and without anti-AQP4 antibodies MONDO:8000031 Orphanet:592869 Orphanet:557494 obsolete subtype of a disorder -MONDO:0035666 acute transverse myelitis with anti-MOG antibodies MONDO:8000031 Orphanet:592873 Orphanet:557494 obsolete subtype of a disorder -MONDO:0035667 isolated optic neuritis without anti-MOG antibodies MONDO:8000031 Orphanet:592885 Orphanet:557494 obsolete subtype of a disorder -MONDO:0035668 isolated optic neuritis with anti-MOG antibodies MONDO:8000031 Orphanet:592888 Orphanet:557494 obsolete subtype of a disorder -MONDO:0035669 acute disseminated encephalomyelitis with anti-MOG antibodies MONDO:8000031 Orphanet:592894 Orphanet:557494 obsolete subtype of a disorder -MONDO:0035670 acute disseminated encephalomyelitis without anti-MOG antibodies MONDO:8000031 Orphanet:592900 Orphanet:557494 obsolete subtype of a disorder -MONDO:0035678 Timothy syndrome type 1 MONDO:8000031 Orphanet:595098 Orphanet:557494 obsolete subtype of a disorder -MONDO:0035679 Timothy syndrome type 2 MONDO:8000031 Orphanet:595105 Orphanet:557494 obsolete subtype of a disorder -MONDO:0035682 obsolete fibrous dysplasia/McCune-Albright syndrome MONDO:0800089 Orphanet:595216 Orphanet:93450 obsolete primary bone dysplasia with disorganized development of skeletal components -MONDO:0035683 obsolete adrenal hypoplasia congenita MONDO:0020999 Orphanet:595337 Orphanet:101960 obsolete genetic chronic primary adrenal insufficiency -MONDO:0035684 obsolete epidermolysis bullosa simplex without extracutaneous involvement MONDO:0017610 Orphanet:595346 Orphanet:304 epidermolysis bullosa simplex -MONDO:0035685 obsolete epidermolysis bullosa simplex with extracutaneous involvement MONDO:0017610 Orphanet:595351 Orphanet:304 epidermolysis bullosa simplex -MONDO:0035689 obsolete syndrome of reduced sensitivity to thyroid hormone MONDO:0015125 Orphanet:596426 Orphanet:101955 obsolete rare thyroid disease -MONDO:0035689 obsolete syndrome of reduced sensitivity to thyroid hormone MONDO:0015969 Orphanet:596426 Orphanet:183631 obsolete rare genetic thyroid disease -MONDO:0035694 combined immunodeficiency due to RELA haploinsufficiency MONDO:0019305 Orphanet:596759 Orphanet:79391 obsolete immune deficiency with skin involvement -MONDO:0035694 combined immunodeficiency due to RELA haploinsufficiency MONDO:0026166 Orphanet:596759 Orphanet:183494 obsolete genetic immune deficiency with skin involvement -MONDO:0035696 incomplete septal cirrhosis MONDO:8000031 Orphanet:596941 Orphanet:557494 obsolete subtype of a disorder -MONDO:0035706 SETD2-related microcephaly-severe intellectual disability-multiple congenital anomalies syndrome MONDO:0015506 Orphanet:597743 Orphanet:156532 obsolete rare syndrome with cardiac malformations -MONDO:0035706 SETD2-related microcephaly-severe intellectual disability-multiple congenital anomalies syndrome MONDO:0015620 Orphanet:597743 Orphanet:165707 obsolete syndromic urogenital tract malformation -MONDO:0035706 SETD2-related microcephaly-severe intellectual disability-multiple congenital anomalies syndrome MONDO:0017119 Orphanet:597743 Orphanet:269528 obsolete syndrome with microcephaly as major feature -MONDO:0035706 SETD2-related microcephaly-severe intellectual disability-multiple congenital anomalies syndrome MONDO:0019721 Orphanet:597743 Orphanet:93547 obsolete syndromic renal or urinary tract malformation -MONDO:0035706 SETD2-related microcephaly-severe intellectual disability-multiple congenital anomalies syndrome MONDO:0035863 Orphanet:597743 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0035706 SETD2-related microcephaly-severe intellectual disability-multiple congenital anomalies syndrome MONDO:8000032 Orphanet:597743 Orphanet:377789 obsolete malformation syndrome -MONDO:0035707 blepharophimosis-intellectual disability syndrome/genitopatellar overlap syndrome MONDO:0015778 Orphanet:597746 Orphanet:177107 obsolete syndromic hypothyroidism -MONDO:0035707 blepharophimosis-intellectual disability syndrome/genitopatellar overlap syndrome MONDO:0036042 Orphanet:597746 Orphanet:597749 obsolete KAT6B-related multiple congenital anomalies syndrome -MONDO:0035707 blepharophimosis-intellectual disability syndrome/genitopatellar overlap syndrome MONDO:8000032 Orphanet:597746 Orphanet:377789 obsolete malformation syndrome -MONDO:0035713 FOXG1 syndrome due to intragenic alteration MONDO:8000031 Orphanet:598164 Orphanet:557494 obsolete subtype of a disorder -MONDO:0035734 hereditary angioedema with normal C1inh not related to F12 or PLG variant MONDO:0033947 Orphanet:599418 Orphanet:528647 obsolete hereditary angioedema with normal C1Inh -MONDO:0035734 hereditary angioedema with normal C1inh not related to F12 or PLG variant MONDO:8000031 Orphanet:599418 Orphanet:557494 obsolete subtype of a disorder -MONDO:0035735 acquired hemophilia A MONDO:0015662 Orphanet:599480 Orphanet:166775 obsolete hemorrhagic disorder due to an acquired coagulation factor defect -MONDO:0035736 acquired hemophilia B MONDO:0015662 Orphanet:599485 Orphanet:166775 obsolete hemorrhagic disorder due to an acquired coagulation factor defect -MONDO:0035737 acquired factor V deficiency MONDO:0015662 Orphanet:599490 Orphanet:166775 obsolete hemorrhagic disorder due to an acquired coagulation factor defect -MONDO:0035738 acquired factor VII deficiency MONDO:0015662 Orphanet:599495 Orphanet:166775 obsolete hemorrhagic disorder due to an acquired coagulation factor defect -MONDO:0035740 acquired factor XI deficiency MONDO:0015662 Orphanet:599507 Orphanet:166775 obsolete hemorrhagic disorder due to an acquired coagulation factor defect -MONDO:0035742 factor V short isoforms-related bleeding disorder MONDO:0019039 Orphanet:599519 Orphanet:68334 obsolete rare hemorrhagic disorder due to a constitutional coagulation factors defect -MONDO:0035743 factor V amsterdam bleeding disorder MONDO:8000031 Orphanet:599579 Orphanet:557494 obsolete subtype of a disorder -MONDO:0035759 factor V atlanta bleeding disorder MONDO:8000031 Orphanet:600194 Orphanet:557494 obsolete subtype of a disorder -MONDO:0035763 idiopathic non-lupus full-house nephropathy MONDO:0032013 Orphanet:567544 Orphanet:377792 obsolete clinical syndrome -MONDO:0035764 idiopathic steroid-sensitive nephrotic syndrome with secondary steroid resistance MONDO:0032013 Orphanet:567546 Orphanet:377792 obsolete clinical syndrome -MONDO:0035774 NRXN1-related severe neurodevelopmental disorder-motor stereotypies-chronic constipation-sleep-wake cycle disturbance MONDO:0015680 Orphanet:600663 Orphanet:168778 obsolete rare pervasive developmental disorder -MONDO:0035774 NRXN1-related severe neurodevelopmental disorder-motor stereotypies-chronic constipation-sleep-wake cycle disturbance MONDO:0019045 Orphanet:600663 Orphanet:68354 obsolete rare sleep disorder -MONDO:0035774 NRXN1-related severe neurodevelopmental disorder-motor stereotypies-chronic constipation-sleep-wake cycle disturbance MONDO:0035862 Orphanet:600663 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome -MONDO:0035774 NRXN1-related severe neurodevelopmental disorder-motor stereotypies-chronic constipation-sleep-wake cycle disturbance MONDO:8000032 Orphanet:600663 Orphanet:377789 obsolete malformation syndrome -MONDO:0035775 CCNK-related neurodevelopmental disorder-severe intellectual disability-facial dysmorphism syndrome MONDO:0035863 Orphanet:600668 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0035776 combined deficiency of factor VII and factor X MONDO:0019039 Orphanet:600691 Orphanet:68334 obsolete rare hemorrhagic disorder due to a constitutional coagulation factors defect -MONDO:0035777 parenteral nutrition-associated cholestasis MONDO:0015116 Orphanet:567983 Orphanet:101941 obsolete rare biliary tract disease -MONDO:0035777 parenteral nutrition-associated cholestasis MONDO:0032014 Orphanet:567983 Orphanet:377793 obsolete particular clinical situation in a disease or syndrome -MONDO:0035780 obsolete non-syndromic anorectal malformation with perineal fistula MONDO:0018916 Orphanet:600952 Orphanet:557 obsolete isolated anorectal malformation -MONDO:0035780 obsolete non-syndromic anorectal malformation with perineal fistula MONDO:8000030 Orphanet:600952 Orphanet:377791 obsolete morphological anomaly -MONDO:0035781 obsolete non-syndromic anorectal malformation with rectourethral fistula MONDO:0018916 Orphanet:600961 Orphanet:557 obsolete isolated anorectal malformation -MONDO:0035781 obsolete non-syndromic anorectal malformation with rectourethral fistula MONDO:8000030 Orphanet:600961 Orphanet:377791 obsolete morphological anomaly -MONDO:0035782 non-syndromic anorectal malformation with rectourethral fistula, bulbar type MONDO:0035781 Orphanet:600966 Orphanet:600961 obsolete non-syndromic anorectal malformation with rectourethral fistula -MONDO:0035782 non-syndromic anorectal malformation with rectourethral fistula, bulbar type MONDO:8000031 Orphanet:600966 Orphanet:557494 obsolete subtype of a disorder -MONDO:0035783 non-syndromic anorectal malformation with rectourethral fistula, prostatic type MONDO:0035781 Orphanet:600975 Orphanet:600961 obsolete non-syndromic anorectal malformation with rectourethral fistula -MONDO:0035783 non-syndromic anorectal malformation with rectourethral fistula, prostatic type MONDO:8000031 Orphanet:600975 Orphanet:557494 obsolete subtype of a disorder -MONDO:0035784 obsolete non-syndromic anorectal malformation with rectovesical fistula MONDO:0018916 Orphanet:600984 Orphanet:557 obsolete isolated anorectal malformation -MONDO:0035784 obsolete non-syndromic anorectal malformation with rectovesical fistula MONDO:8000030 Orphanet:600984 Orphanet:377791 obsolete morphological anomaly -MONDO:0035785 obsolete non-syndromic anorectal malformation with vestibular fistula MONDO:0018916 Orphanet:600993 Orphanet:557 obsolete isolated anorectal malformation -MONDO:0035785 obsolete non-syndromic anorectal malformation with vestibular fistula MONDO:8000030 Orphanet:600993 Orphanet:377791 obsolete morphological anomaly -MONDO:0035786 obsolete non-syndromic cloacal malformation MONDO:0018916 Orphanet:600998 Orphanet:557 obsolete isolated anorectal malformation -MONDO:0035786 obsolete non-syndromic cloacal malformation MONDO:8000030 Orphanet:600998 Orphanet:377791 obsolete morphological anomaly -MONDO:0035787 obsolete non-syndromic anorectal malformation without fistula MONDO:0018916 Orphanet:601002 Orphanet:557 obsolete isolated anorectal malformation -MONDO:0035787 obsolete non-syndromic anorectal malformation without fistula MONDO:8000030 Orphanet:601002 Orphanet:377791 obsolete morphological anomaly -MONDO:0035788 obsolete non-syndromic anorectal malformation with anal stenosis MONDO:0018916 Orphanet:601008 Orphanet:557 obsolete isolated anorectal malformation -MONDO:0035788 obsolete non-syndromic anorectal malformation with anal stenosis MONDO:8000030 Orphanet:601008 Orphanet:377791 obsolete morphological anomaly -MONDO:0035789 obsolete non-syndromic anorectal malformation with pouch colon MONDO:0018916 Orphanet:601013 Orphanet:557 obsolete isolated anorectal malformation -MONDO:0035789 obsolete non-syndromic anorectal malformation with pouch colon MONDO:8000030 Orphanet:601013 Orphanet:377791 obsolete morphological anomaly -MONDO:0035790 obsolete non-syndromic anorectal malformation with rectal atresia MONDO:0018916 Orphanet:601018 Orphanet:557 obsolete isolated anorectal malformation -MONDO:0035790 obsolete non-syndromic anorectal malformation with rectal atresia MONDO:8000030 Orphanet:601018 Orphanet:377791 obsolete morphological anomaly -MONDO:0035791 obsolete non-syndromic anorectal malformation with rectal stenosis MONDO:0018916 Orphanet:601023 Orphanet:557 obsolete isolated anorectal malformation -MONDO:0035791 obsolete non-syndromic anorectal malformation with rectal stenosis MONDO:8000030 Orphanet:601023 Orphanet:377791 obsolete morphological anomaly -MONDO:0035792 obsolete non-syndromic anorectal malformation with rectovaginal fistula MONDO:0018916 Orphanet:601028 Orphanet:557 obsolete isolated anorectal malformation -MONDO:0035792 obsolete non-syndromic anorectal malformation with rectovaginal fistula MONDO:8000030 Orphanet:601028 Orphanet:377791 obsolete morphological anomaly -MONDO:0035793 obsolete non-syndromic anorectal malformation with h-type fistula MONDO:0018916 Orphanet:601033 Orphanet:557 obsolete isolated anorectal malformation -MONDO:0035793 obsolete non-syndromic anorectal malformation with h-type fistula MONDO:8000030 Orphanet:601033 Orphanet:377791 obsolete morphological anomaly -MONDO:0035819 cerebellar hypoplasia-intellectual disability-congenital microcephaly-dystonia-anemia-growth retardation syndrome MONDO:0017120 Orphanet:603448 Orphanet:269531 obsolete other syndrome with a central nervous system malformation as major feature -MONDO:0035819 cerebellar hypoplasia-intellectual disability-congenital microcephaly-dystonia-anemia-growth retardation syndrome MONDO:0035863 Orphanet:603448 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0035819 cerebellar hypoplasia-intellectual disability-congenital microcephaly-dystonia-anemia-growth retardation syndrome MONDO:8000032 Orphanet:603448 Orphanet:377789 obsolete malformation syndrome -MONDO:0035821 isolated female hypospadias MONDO:0015932 Orphanet:603515 Orphanet:182117 obsolete non-syndromic urogenital tract malformation of female -MONDO:0035821 isolated female hypospadias MONDO:8000030 Orphanet:603515 Orphanet:377791 obsolete morphological anomaly -MONDO:0035823 KLHL7-related Bohring-Opitz-like syndrome MONDO:0035863 Orphanet:603689 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0035823 KLHL7-related Bohring-Opitz-like syndrome MONDO:8000032 Orphanet:603689 Orphanet:377789 obsolete malformation syndrome -MONDO:0035824 KLHL7-related cold-induced sweating-like syndrome MONDO:0034953 Orphanet:603694 Orphanet:519325 obsolete syndromic inherited retinal disorder -MONDO:0035826 symptomatic form of X-linked centronuclear myopathy in female carriers MONDO:0016154 Orphanet:604680 Orphanet:207110 obsolete qualitative or quantitative defects of myotubularin -MONDO:0035838 idiopathic multicentric Castleman disease MONDO:8000031 Orphanet:570431 Orphanet:557494 obsolete subtype of a disorder -MONDO:0035862 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome MONDO:0015162 Orphanet:611314 Orphanet:102369 obsolete rare syndromic intellectual disability -MONDO:0035862 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome MONDO:0015983 Orphanet:611314 Orphanet:183763 obsolete rare genetic syndromic intellectual disability -MONDO:0035863 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability MONDO:0015983 Orphanet:611327 Orphanet:183763 obsolete rare genetic syndromic intellectual disability -MONDO:0035863 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability MONDO:0043005 Orphanet:611327 Orphanet:183533 obsolete genetic multiple congenital anomalies/dysmorphic syndrome -MONDO:0035875 ivermectin toxicity MONDO:0032014 Orphanet:574637 Orphanet:377793 obsolete particular clinical situation in a disease or syndrome -MONDO:0035876 belinostat toxicity or dose selection MONDO:0032014 Orphanet:574671 Orphanet:377793 obsolete particular clinical situation in a disease or syndrome -MONDO:0035879 granuloma faciale MONDO:0019546 Orphanet:615943 Orphanet:90077 obsolete other acquired skin disease -MONDO:0035882 chronic intervillositis of unknown etiology MONDO:0015582 Orphanet:615970 Orphanet:163637 obsolete rare disorder related with pregnancy, childbirth and puerperium -MONDO:0035930 neu-laxova syndrome due to 3-phosphoserine phosphatase deficiency MONDO:8000031 Orphanet:583612 Orphanet:557494 obsolete subtype of a disorder -MONDO:0036025 toxicity to dolutegravir MONDO:0032014 Orphanet:596744 Orphanet:377793 obsolete particular clinical situation in a disease or syndrome -MONDO:0036042 obsolete KAT6B-related multiple congenital anomalies syndrome MONDO:0015159 Orphanet:597749 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0036042 obsolete KAT6B-related multiple congenital anomalies syndrome MONDO:0015620 Orphanet:597749 Orphanet:165707 obsolete syndromic urogenital tract malformation -MONDO:0036042 obsolete KAT6B-related multiple congenital anomalies syndrome MONDO:0019712 Orphanet:597749 Orphanet:93455 obsolete patellar dysostosis -MONDO:0036042 obsolete KAT6B-related multiple congenital anomalies syndrome MONDO:0035863 Orphanet:597749 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0036045 euthyroid dysprealbuminemic hyperthyroxinemia MONDO:0035689 Orphanet:597939 Orphanet:596426 obsolete syndrome of reduced sensitivity to thyroid hormone -MONDO:0036189 oculogastrointestinal-neurodevelopmental syndrome MONDO:0015246 Orphanet:611201 Orphanet:117573 obsolete syndromic anorectal malformation -MONDO:0036189 oculogastrointestinal-neurodevelopmental syndrome MONDO:0019589 Orphanet:611201 Orphanet:90642 obsolete syndromic genetic hearing loss -MONDO:0036189 oculogastrointestinal-neurodevelopmental syndrome MONDO:0035863 Orphanet:611201 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0036189 oculogastrointestinal-neurodevelopmental syndrome MONDO:8000032 Orphanet:611201 Orphanet:377789 obsolete malformation syndrome -MONDO:0036192 obsolete EN1-related dorsoventral syndrome MONDO:0017118 Orphanet:611223 Orphanet:269523 obsolete syndrome with a cerebellar malformation as major feature -MONDO:0036192 obsolete EN1-related dorsoventral syndrome MONDO:0019697 Orphanet:611223 Orphanet:93438 obsolete mesomelic and rhizo-mesomelic dysplasia -MONDO:0036192 obsolete EN1-related dorsoventral syndrome MONDO:8000032 Orphanet:611223 Orphanet:377789 obsolete malformation syndrome -MONDO:0036193 parkinsonism with polyneuropathy MONDO:0016133 Orphanet:611237 Orphanet:207018 obsolete rare hereditary metabolic disease with peripheral neuropathy -MONDO:0036193 parkinsonism with polyneuropathy MONDO:0016578 Orphanet:611237 Orphanet:2443 obsolete mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies -MONDO:0036193 parkinsonism with polyneuropathy MONDO:0017635 Orphanet:611237 Orphanet:306666 obsolete parkinsonian syndrome due to neurodegenerative disease -MONDO:0036193 parkinsonism with polyneuropathy MONDO:0017661 Orphanet:611237 Orphanet:307055 obsolete rare parkinsonian syndrome due to genetic neurodegenerative disease -MONDO:0036212 spastic paraparesis-cataracts-speech delay syndrome MONDO:0018118 Orphanet:615938 Orphanet:352306 obsolete disorder of phospholipids, sphingolipids and fatty acids biosynthesis with central nervous system predominant involvement -MONDO:0036212 spastic paraparesis-cataracts-speech delay syndrome MONDO:0019058 Orphanet:615938 Orphanet:68385 obsolete neurometabolic disease -MONDO:0036212 spastic paraparesis-cataracts-speech delay syndrome MONDO:0020228 Orphanet:615938 Orphanet:98644 obsolete cataract associated with a metabolic disease -MONDO:0036212 spastic paraparesis-cataracts-speech delay syndrome MONDO:0032013 Orphanet:615938 Orphanet:377792 obsolete clinical syndrome -MONDO:0036217 lethal pontocerebellar hypoplasia-hypotonia-respiratory insufficiency syndrome due to a point mutation MONDO:8000031 Orphanet:615983 Orphanet:557494 obsolete subtype of a disorder -MONDO:0036218 lethal pontocerebellar hypoplasia-hypotonia-respiratory insufficiency syndrome due to biallelic deletions in the ATAD3 gene cluster MONDO:8000031 Orphanet:615986 Orphanet:557494 obsolete subtype of a disorder -MONDO:0036918 punctate acrokeratoderma freckle-like pigmentation MONDO:0019271 Orphanet:99710 Orphanet:79356 obsolete acrokeratoderma -MONDO:0036918 punctate acrokeratoderma freckle-like pigmentation MONDO:0026151 Orphanet:99710 Orphanet:183441 obsolete genetic acrokeratoderma -MONDO:0037149 HSD10 disease, atypical type MONDO:8000031 Orphanet:85295 Orphanet:557494 obsolete subtype of a disorder -MONDO:0037398 pneumonia caused by pseudomonas aeruginosa infection MONDO:0015118 Orphanet:90066 Orphanet:101944 obsolete rare pulmonary disease -MONDO:0037398 pneumonia caused by pseudomonas aeruginosa infection MONDO:0032014 Orphanet:90066 Orphanet:377793 obsolete particular clinical situation in a disease or syndrome -MONDO:0037716 obsolete rare genetic deafness MONDO:0018751 Orphanet:96210 Orphanet:466084 hereditary otorhinolaryngologic disease -MONDO:0037860 obsolete rare systemic or rheumatologic disease MONDO:8000033 Orphanet:98023 Orphanet:557492 obsolete group of disorders -MONDO:0038261 obsolete genetic neurological channelopathy of the central nervous system MONDO:0019117 Orphanet:98743 Orphanet:71859 obsolete genetic nervous system disorder -MONDO:0038268 obsolete autoimmune neurological channelopathy MONDO:0019119 Orphanet:98750 Orphanet:71864 muscular channelopathy -MONDO:0042727 sacrococcygeal teratoma MONDO:8000031 Orphanet:494421 Orphanet:557494 obsolete subtype of a disorder -MONDO:0043005 obsolete genetic multiple congenital anomalies/dysmorphic syndrome MONDO:0015960 Orphanet:183533 Orphanet:183530 obsolete rare genetic developmental defect during embryogenesis -MONDO:0043008 obsolete genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability MONDO:0043005 Orphanet:330206 Orphanet:183533 obsolete genetic multiple congenital anomalies/dysmorphic syndrome -MONDO:0043009 hereditary lethal multiple congenital anomalies/dysmorphic syndrome MONDO:0043005 Orphanet:471383 Orphanet:183533 obsolete genetic multiple congenital anomalies/dysmorphic syndrome -MONDO:0043143 microphthalmia microtia fetal akinesia MONDO:0018731 Orphanet:2547 Orphanet:459787 obsolete lethal multiple congenital anomalies/dysmorphic syndrome -MONDO:0043143 microphthalmia microtia fetal akinesia MONDO:8000032 Orphanet:2547 Orphanet:377789 obsolete malformation syndrome -MONDO:0043164 palmer pagon syndrome MONDO:0017120 Orphanet:2184 Orphanet:269531 obsolete other syndrome with a central nervous system malformation as major feature -MONDO:0043164 palmer pagon syndrome MONDO:8000032 Orphanet:2184 Orphanet:377789 obsolete malformation syndrome -MONDO:0043257 pemphigus and fogo selvagem MONDO:0018745 Orphanet:636955 Orphanet:46485 obsolete superficial pemphigus -MONDO:0043317 amyopathic dermatomyositis MONDO:8000031 Orphanet:645617 Orphanet:557494 obsolete subtype of a disorder -MONDO:0043330 Mirizzi syndrome MONDO:0015116 Orphanet:521219 Orphanet:101941 obsolete rare biliary tract disease -MONDO:0043330 Mirizzi syndrome MONDO:0032013 Orphanet:521219 Orphanet:377792 obsolete clinical syndrome -MONDO:0043373 sudden sensorineural hearing loss MONDO:0019047 Orphanet:90059 Orphanet:68361 obsolete rare deafness -MONDO:0043373 sudden sensorineural hearing loss MONDO:0032014 Orphanet:90059 Orphanet:377793 obsolete particular clinical situation in a disease or syndrome -MONDO:0043459 radiation-induced disorder MONDO:0015224 Orphanet:521132 Orphanet:108999 obsolete rare intoxication -MONDO:0043797 spinal cord injury MONDO:0020009 Orphanet:90058 Orphanet:98006 obsolete rare neurologic disease -MONDO:0043797 spinal cord injury MONDO:0032014 Orphanet:90058 Orphanet:377793 obsolete particular clinical situation in a disease or syndrome -MONDO:0044067 candidiasis, invasive MONDO:0015578 Orphanet:636945 Orphanet:163591 obsolete rare mycosis -MONDO:0044302 congenital heart defects, dysmorphic facial features, and intellectual developmental disorder MONDO:0035863 Orphanet:646278 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0044304 hyperphenylalaninemia due to DNAJC12 deficiency MONDO:0017756 Orphanet:508523 Orphanet:309819 obsolete disorder of pterin metabolism -MONDO:0044304 hyperphenylalaninemia due to DNAJC12 deficiency MONDO:0018329 Orphanet:508523 Orphanet:391711 obsolete persistent combined dystonia -MONDO:0044306 neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination MONDO:0015878 Orphanet:500545 Orphanet:180772 obsolete rare disease with autism -MONDO:0044306 neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination MONDO:0020225 Orphanet:500545 Orphanet:98641 obsolete syndromic cataract -MONDO:0044306 neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination MONDO:0035862 Orphanet:500545 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome -MONDO:0044319 intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies MONDO:0035863 Orphanet:505237 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0044319 intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies MONDO:8000032 Orphanet:505237 Orphanet:377789 obsolete malformation syndrome -MONDO:0044323 Rahman syndrome MONDO:0035863 Orphanet:642763 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0044323 Rahman syndrome MONDO:8000032 Orphanet:642763 Orphanet:377789 obsolete malformation syndrome MONDO:0044331 obsolete genetic transient congenital hypothyroidism MONDO:0000001 Orphanet:226316 Orphanet:377788 disease -MONDO:0044331 obsolete genetic transient congenital hypothyroidism MONDO:0016556 Orphanet:226316 Orphanet:238699 transient congenital hypothyroidism due to neonatal factor -MONDO:0044332 childhood-onset benign chorea with striatal involvement MONDO:0017646 Orphanet:494541 Orphanet:306719 obsolete neurodegenerative disease with chorea -MONDO:0044355 isolated sternocostoclavicular hyperostosis MONDO:0015940 Orphanet:178311 Orphanet:182231 obsolete rare rheumatologic disease -MONDO:0044406 arthrogryposis-ectodermal dysplasia-other anomalies syndrome MONDO:8000032 Orphanet:3200 Orphanet:377789 obsolete malformation syndrome -MONDO:0044617 X-linked keloid scarring-reduced joint mobility-increased optic cup-to-disc ratio syndrome MONDO:0018609 Orphanet:482606 Orphanet:441434 obsolete syndromic hereditary optic neuropathy -MONDO:0044617 X-linked keloid scarring-reduced joint mobility-increased optic cup-to-disc ratio syndrome MONDO:0019274 Orphanet:482606 Orphanet:79359 obsolete other epidermal disorder -MONDO:0044617 X-linked keloid scarring-reduced joint mobility-increased optic cup-to-disc ratio syndrome MONDO:0019275 Orphanet:482606 Orphanet:79360 obsolete other genetic epidermal disease -MONDO:0044617 X-linked keloid scarring-reduced joint mobility-increased optic cup-to-disc ratio syndrome MONDO:8000032 Orphanet:482606 Orphanet:377789 obsolete malformation syndrome -MONDO:0044619 propylthiouracil embryofetopathy MONDO:0015323 Orphanet:485358 Orphanet:138059 obsolete teratogenic Pierre Robin syndrome -MONDO:0044619 propylthiouracil embryofetopathy MONDO:8000032 Orphanet:485358 Orphanet:377789 obsolete malformation syndrome -MONDO:0044621 16p12.1p12.3 triplication syndrome MONDO:0035863 Orphanet:485405 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0044621 16p12.1p12.3 triplication syndrome MONDO:8000032 Orphanet:485405 Orphanet:377789 obsolete malformation syndrome -MONDO:0044622 EMILIN-1-related connective tissue disease MONDO:0016134 Orphanet:485418 Orphanet:207021 obsolete rare hereditary systemic disease with peripheral neuropathy -MONDO:0044624 pediatric collagenous gastritis MONDO:0015111 Orphanet:487809 Orphanet:101936 obsolete gastroesophageal disease -MONDO:0044626 female infertility due to oocyte meiotic arrest MONDO:0018444 Orphanet:488191 Orphanet:404469 obsolete female infertility due to fertilization defect -MONDO:0044628 six2-related frontonasal dysplasia MONDO:8000032 Orphanet:488437 Orphanet:377789 obsolete malformation syndrome -MONDO:0044629 congenital amyoplasia MONDO:8000032 Orphanet:488586 Orphanet:377789 obsolete malformation syndrome -MONDO:0044632 extracranial carotid artery aneurysm MONDO:0018723 Orphanet:494424 Orphanet:458844 obsolete rare vascular malformation of major vessels -MONDO:0044632 extracranial carotid artery aneurysm MONDO:8000030 Orphanet:494424 Orphanet:377791 obsolete morphological anomaly -MONDO:0044634 retinitis pigmentosa-hearing loss-premature aging-short stature-facial dysmorphism syndrome MONDO:0015329 Orphanet:494439 Orphanet:139021 obsolete malformation syndrome with short stature -MONDO:0044634 retinitis pigmentosa-hearing loss-premature aging-short stature-facial dysmorphism syndrome MONDO:0019589 Orphanet:494439 Orphanet:90642 obsolete syndromic genetic hearing loss -MONDO:0044634 retinitis pigmentosa-hearing loss-premature aging-short stature-facial dysmorphism syndrome MONDO:0020240 Orphanet:494439 Orphanet:98661 obsolete syndromic retinitis pigmentosa -MONDO:0044634 retinitis pigmentosa-hearing loss-premature aging-short stature-facial dysmorphism syndrome MONDO:0026187 Orphanet:494439 Orphanet:183570 obsolete genetic malformation syndrome with short stature -MONDO:0044634 retinitis pigmentosa-hearing loss-premature aging-short stature-facial dysmorphism syndrome MONDO:0035863 Orphanet:494439 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0044634 retinitis pigmentosa-hearing loss-premature aging-short stature-facial dysmorphism syndrome MONDO:8000032 Orphanet:494439 Orphanet:377789 obsolete malformation syndrome -MONDO:0044635 DIAPH1-related sensorineural hearing loss-thrombocytopenia syndrome MONDO:0019589 Orphanet:494444 Orphanet:90642 obsolete syndromic genetic hearing loss -MONDO:0044636 obsolete rare hyperkinetic movement disorder MONDO:0015143 Orphanet:494457 Orphanet:102003 obsolete rare movement disorder -MONDO:0044637 infantile-onset generalized dyskinesia with orofacial involvement MONDO:0035862 Orphanet:494526 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome -MONDO:0044638 hypopharynx squamous cell carcinoma MONDO:0020035 Orphanet:494547 Orphanet:98061 obsolete rare otorhinolaryngologic tumor -MONDO:0044640 Charcot-Marie-Tooth disease type 2T MONDO:0019601 Orphanet:495274 Orphanet:91024 obsolete autosomal recessive axonal hereditary motor and sensory neuropathy -MONDO:0044641 9q33.3q34.11 microdeletion syndrome MONDO:0015652 Orphanet:495818 Orphanet:166469 obsolete chromosomal anomaly with epilepsy as a major feature -MONDO:0044641 9q33.3q34.11 microdeletion syndrome MONDO:0019285 Orphanet:495818 Orphanet:79370 obsolete syndromic nail anomaly -MONDO:0044641 9q33.3q34.11 microdeletion syndrome MONDO:0035863 Orphanet:495818 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0044641 9q33.3q34.11 microdeletion syndrome MONDO:8000032 Orphanet:495818 Orphanet:377789 obsolete malformation syndrome -MONDO:0044642 c11orf73-related autosomal recessive hypomyelinating leukodystrophy MONDO:0018609 Orphanet:495844 Orphanet:441434 obsolete syndromic hereditary optic neuropathy -MONDO:0044643 congenital labioscrotal agenesis-cerebellar malformation-corneal dystrophy-facial dysmorphism syndrome MONDO:0015620 Orphanet:495875 Orphanet:165707 obsolete syndromic urogenital tract malformation -MONDO:0044643 congenital labioscrotal agenesis-cerebellar malformation-corneal dystrophy-facial dysmorphism syndrome MONDO:0017118 Orphanet:495875 Orphanet:269523 obsolete syndrome with a cerebellar malformation as major feature -MONDO:0044643 congenital labioscrotal agenesis-cerebellar malformation-corneal dystrophy-facial dysmorphism syndrome MONDO:0020215 Orphanet:495875 Orphanet:98628 obsolete syndromic corneal dystrophy -MONDO:0044643 congenital labioscrotal agenesis-cerebellar malformation-corneal dystrophy-facial dysmorphism syndrome MONDO:0035863 Orphanet:495875 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0044643 congenital labioscrotal agenesis-cerebellar malformation-corneal dystrophy-facial dysmorphism syndrome MONDO:8000032 Orphanet:495875 Orphanet:377789 obsolete malformation syndrome -MONDO:0044644 congenital agenesis of the scrotum MONDO:0015933 Orphanet:495879 Orphanet:182121 obsolete non-syndromic urogenital tract malformation of male -MONDO:0044644 congenital agenesis of the scrotum MONDO:8000030 Orphanet:495879 Orphanet:377791 obsolete morphological anomaly -MONDO:0044646 early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome MONDO:0015918 Orphanet:496641 Orphanet:182070 obsolete rare neurodegenerative disease -MONDO:0044646 early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome MONDO:0018609 Orphanet:496641 Orphanet:441434 obsolete syndromic hereditary optic neuropathy -MONDO:0044646 early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome MONDO:0035863 Orphanet:496641 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0044646 early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome MONDO:8000032 Orphanet:496641 Orphanet:377789 obsolete malformation syndrome -MONDO:0044648 kyphoscoliosis-lateral tongue atrophy-hereditary spastic paraplegia syndrome MONDO:0015089 Orphanet:496689 Orphanet:100981 obsolete autosomal recessive complex spastic paraplegia -MONDO:0044649 omphalocele-diaphragmatic hernia-cardiovascular anomalies-radial ray defect syndrome MONDO:0015216 Orphanet:496693 Orphanet:108979 obsolete syndromic diaphragmatic or abdominal wall malformation -MONDO:0044649 omphalocele-diaphragmatic hernia-cardiovascular anomalies-radial ray defect syndrome MONDO:0015506 Orphanet:496693 Orphanet:156532 obsolete rare syndrome with cardiac malformations -MONDO:0044649 omphalocele-diaphragmatic hernia-cardiovascular anomalies-radial ray defect syndrome MONDO:0015880 Orphanet:496693 Orphanet:180779 obsolete syndromic diaphragmatic or thoracic malformation -MONDO:0044649 omphalocele-diaphragmatic hernia-cardiovascular anomalies-radial ray defect syndrome MONDO:0017432 Orphanet:496693 Orphanet:294955 obsolete syndrome with limb reduction defects -MONDO:0044649 omphalocele-diaphragmatic hernia-cardiovascular anomalies-radial ray defect syndrome MONDO:0035863 Orphanet:496693 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0044649 omphalocele-diaphragmatic hernia-cardiovascular anomalies-radial ray defect syndrome MONDO:8000032 Orphanet:496693 Orphanet:377789 obsolete malformation syndrome -MONDO:0044651 early-onset progressive encephalopathy-spastic ataxia-distal spinal muscular atrophy syndrome MONDO:0035862 Orphanet:496756 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome -MONDO:0044655 obsolete c12orf65-related combined oxidative phosphorylation defect MONDO:0018157 Orphanet:497623 Orphanet:35696 obsolete mitochondrial disorder due to a defect in mitochondrial protein synthesis -MONDO:0044655 obsolete c12orf65-related combined oxidative phosphorylation defect MONDO:0018609 Orphanet:497623 Orphanet:441434 obsolete syndromic hereditary optic neuropathy -MONDO:0044655 obsolete c12orf65-related combined oxidative phosphorylation defect MONDO:0019058 Orphanet:497623 Orphanet:68385 obsolete neurometabolic disease -MONDO:0044655 obsolete c12orf65-related combined oxidative phosphorylation defect MONDO:0035862 Orphanet:497623 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome -MONDO:0044656 epidermolytic nevus MONDO:0017414 Orphanet:497737 Orphanet:294057 obsolete rare nevus -MONDO:0044657 MME-related autosomal dominant Charcot Marie Tooth disease type 2 MONDO:0017414 Orphanet:497757 Orphanet:294057 obsolete rare nevus -MONDO:0044660 menstrual cycle-dependent periodic fever MONDO:0015860 Orphanet:498251 Orphanet:180208 obsolete anomaly of puberty or/and menstrual cycle -MONDO:0044663 aquagenic palmoplantar keratoderma MONDO:0019274 Orphanet:498359 Orphanet:79359 obsolete other epidermal disorder -MONDO:0044675 LRP5-related primary osteoporosis MONDO:0019704 Orphanet:498481 Orphanet:93446 obsolete primary bone dysplasia with decreased bone density -MONDO:0044675 LRP5-related primary osteoporosis MONDO:8000032 Orphanet:498481 Orphanet:377789 obsolete malformation syndrome -MONDO:0044688 isolated optic neuritis MONDO:0015916 Orphanet:499096 Orphanet:182064 obsolete rare neuroinflammatory or neuroimmunological disease -MONDO:0044696 early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome MONDO:0017120 Orphanet:500144 Orphanet:269531 obsolete other syndrome with a central nervous system malformation as major feature -MONDO:0044696 early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome MONDO:0019589 Orphanet:500144 Orphanet:90642 obsolete syndromic genetic hearing loss -MONDO:0044696 early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome MONDO:0035863 Orphanet:500144 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0044696 early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome MONDO:8000032 Orphanet:500144 Orphanet:377789 obsolete malformation syndrome -MONDO:0044699 SIN3A-related intellectual disability syndrome MONDO:0035863 Orphanet:500163 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0044699 SIN3A-related intellectual disability syndrome MONDO:8000032 Orphanet:500163 Orphanet:377789 obsolete malformation syndrome -MONDO:0044700 SIN3A-related intellectual disability syndrome due to a point mutation MONDO:8000031 Orphanet:500166 Orphanet:557494 obsolete subtype of a disorder -MONDO:0044701 childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder MONDO:0015918 Orphanet:500180 Orphanet:182070 obsolete rare neurodegenerative disease -MONDO:0044701 childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder MONDO:0017641 Orphanet:500180 Orphanet:306695 obsolete miscellaneous movement disorder due to neurodegenerative disease -MONDO:0044701 childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder MONDO:0017662 Orphanet:500180 Orphanet:307058 obsolete miscellaneous movement disorder due to genetic neurodegenerative disease -MONDO:0044701 childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder MONDO:0035862 Orphanet:500180 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome -MONDO:0044702 X-linked external auditory canal atresia-dilated internal auditory canal-facial dysmorphism syndrome MONDO:0015502 Orphanet:500188 Orphanet:156243 obsolete pinnae and external auditory canal anomaly -MONDO:0044702 X-linked external auditory canal atresia-dilated internal auditory canal-facial dysmorphism syndrome MONDO:0019589 Orphanet:500188 Orphanet:90642 obsolete syndromic genetic hearing loss -MONDO:0044702 X-linked external auditory canal atresia-dilated internal auditory canal-facial dysmorphism syndrome MONDO:8000032 Orphanet:500188 Orphanet:377789 obsolete malformation syndrome -MONDO:0044704 oropharynx squamous cell carcinoma MONDO:0020035 Orphanet:500478 Orphanet:98061 obsolete rare otorhinolaryngologic tumor -MONDO:0044705 paranasal sinus squamous cell carcinoma MONDO:0020035 Orphanet:500464 Orphanet:98061 obsolete rare otorhinolaryngologic tumor -MONDO:0044709 cochleovestibular dysplasia MONDO:8000030 Orphanet:502305 Orphanet:377791 obsolete morphological anomaly -MONDO:0044710 lip and oral cavity squamous cell carcinoma MONDO:0020035 Orphanet:502369 Orphanet:98061 obsolete rare otorhinolaryngologic tumor -MONDO:0044714 mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome MONDO:0016803 Orphanet:502423 Orphanet:254837 obsolete unspecified inborn mitochondrial disorder -MONDO:0044714 mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome MONDO:0035862 Orphanet:502423 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome -MONDO:0044715 metopic ridging-ptosis-facial dysmorphism syndrome MONDO:0020169 Orphanet:502430 Orphanet:98578 obsolete rare disorder with ptosis -MONDO:0044715 metopic ridging-ptosis-facial dysmorphism syndrome MONDO:0035863 Orphanet:502430 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0044715 metopic ridging-ptosis-facial dysmorphism syndrome MONDO:8000032 Orphanet:502430 Orphanet:377789 obsolete malformation syndrome -MONDO:0044717 4q25 proximal deletion syndrome MONDO:0035863 Orphanet:502437 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0044717 4q25 proximal deletion syndrome MONDO:8000032 Orphanet:502437 Orphanet:377789 obsolete malformation syndrome -MONDO:0044718 alkaline ceramidase 3 deficiency MONDO:0019058 Orphanet:502444 Orphanet:68385 obsolete neurometabolic disease -MONDO:0044720 cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome MONDO:0016136 Orphanet:504476 Orphanet:207028 obsolete cerebellar ataxia with peripheral neuropathy -MONDO:0044720 cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome MONDO:0020017 Orphanet:504476 Orphanet:98036 obsolete rare otorhinolaryngologic disease -MONDO:0044723 3-methylglutaconic aciduria type 8 MONDO:0019058 Orphanet:505208 Orphanet:68385 obsolete neurometabolic disease -MONDO:0044723 3-methylglutaconic aciduria type 8 MONDO:0035862 Orphanet:505208 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome -MONDO:0044724 3-methylglutaconic aciduria type 9 MONDO:0016399 Orphanet:505216 Orphanet:225689 obsolete amino acid or protein metabolism disease with epilepsy -MONDO:0044724 3-methylglutaconic aciduria type 9 MONDO:0019058 Orphanet:505216 Orphanet:68385 obsolete neurometabolic disease -MONDO:0044724 3-methylglutaconic aciduria type 9 MONDO:0035862 Orphanet:505216 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome -MONDO:0044725 combined immunodeficiency due to GINS1 deficiency MONDO:0015707 Orphanet:505227 Orphanet:169346 obsolete DNA repair defect other than combined T-cell and B-cell immunodeficiencies -MONDO:0044726 psychomotor regression-oculomotor apraxia-movement disorder-nephropathy syndrome MONDO:0015918 Orphanet:505242 Orphanet:182070 obsolete rare neurodegenerative disease -MONDO:0044726 psychomotor regression-oculomotor apraxia-movement disorder-nephropathy syndrome MONDO:0019744 Orphanet:505242 Orphanet:93603 obsolete rare renal tubular disease -MONDO:0044726 psychomotor regression-oculomotor apraxia-movement disorder-nephropathy syndrome MONDO:0020258 Orphanet:505242 Orphanet:98688 obsolete oculomotor apraxia or related oculomotor disease -MONDO:0044737 autosomal recessive complex spastic paraplegia due to kennedy pathway dysfunction MONDO:0015089 Orphanet:506353 Orphanet:100981 obsolete autosomal recessive complex spastic paraplegia -MONDO:0044737 autosomal recessive complex spastic paraplegia due to kennedy pathway dysfunction MONDO:0018118 Orphanet:506353 Orphanet:352306 obsolete disorder of phospholipids, sphingolipids and fatty acids biosynthesis with central nervous system predominant involvement -MONDO:0044737 autosomal recessive complex spastic paraplegia due to kennedy pathway dysfunction MONDO:0035862 Orphanet:506353 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome -MONDO:0044738 Gabriele de Vries syndrome MONDO:0035863 Orphanet:506358 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0044738 Gabriele de Vries syndrome MONDO:8000032 Orphanet:506358 Orphanet:377789 obsolete malformation syndrome -MONDO:0044739 Stevens-Johnson syndrome/toxic epidermal necrolysis overlap syndrome MONDO:8000031 Orphanet:506784 Orphanet:557494 obsolete subtype of a disorder -MONDO:0044740 salivary gland squamous cell carcinoma MONDO:8000031 Orphanet:500481 Orphanet:557494 obsolete subtype of a disorder -MONDO:0044792 large congenital melanocytic nevus MONDO:0017414 Orphanet:626 Orphanet:294057 obsolete rare nevus -MONDO:0044807 inherited dystonia MONDO:0034641 Orphanet:391799 Orphanet:496916 obsolete rare genetic hyperkinetic movement disorder -MONDO:0054559 congenital disorder of glycosylation, type IIq MONDO:0018284 Orphanet:435934 Orphanet:371047 obsolete congenital disorder of glycosylation with neurological involvement -MONDO:0054636 Skraban-Deardorff syndrome MONDO:0035863 Orphanet:513456 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0054669 pontocerebellar hypoplasia, type 11 MONDO:0035863 Orphanet:611247 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0054669 pontocerebellar hypoplasia, type 11 MONDO:8000032 Orphanet:611247 Orphanet:377789 obsolete malformation syndrome -MONDO:0054785 multiple mitochondrial dysfunctions syndrome 6 MONDO:0015918 Orphanet:569290 Orphanet:182070 obsolete rare neurodegenerative disease -MONDO:0054813 Ehlers-Danlos syndrome, classic-like, 2 MONDO:0019704 Orphanet:536532 Orphanet:93446 obsolete primary bone dysplasia with decreased bone density -MONDO:0054865 encephalopathy due to mitochondrial and peroxisomal fission defect MONDO:0016133 Orphanet:527276 Orphanet:207018 obsolete rare hereditary metabolic disease with peripheral neuropathy -MONDO:0054865 encephalopathy due to mitochondrial and peroxisomal fission defect MONDO:0016578 Orphanet:527276 Orphanet:2443 obsolete mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies -MONDO:0054865 encephalopathy due to mitochondrial and peroxisomal fission defect MONDO:0019058 Orphanet:527276 Orphanet:68385 obsolete neurometabolic disease -MONDO:0054865 encephalopathy due to mitochondrial and peroxisomal fission defect MONDO:0035862 Orphanet:527276 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome -MONDO:0060490 neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies MONDO:0017120 Orphanet:544469 Orphanet:269531 obsolete other syndrome with a central nervous system malformation as major feature -MONDO:0060490 neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies MONDO:0035863 Orphanet:544469 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0060490 neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies MONDO:8000032 Orphanet:544469 Orphanet:377789 obsolete malformation syndrome -MONDO:0060502 neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies MONDO:0018609 Orphanet:521426 Orphanet:441434 obsolete syndromic hereditary optic neuropathy -MONDO:0060502 neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies MONDO:0035863 Orphanet:521426 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0060502 neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies MONDO:8000032 Orphanet:521426 Orphanet:377789 obsolete malformation syndrome -MONDO:0060532 congenital heart defects and skeletal malformations syndrome MONDO:0043008 Orphanet:643503 Orphanet:330206 obsolete genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability -MONDO:0060533 microcephaly, short stature, and limb abnormalities MONDO:8000031 Orphanet:572773 Orphanet:557494 obsolete subtype of a disorder -MONDO:0060556 joint laxity, short stature, and myopia MONDO:0015332 Orphanet:527450 Orphanet:139030 obsolete rare developmental defect with connective tissue involvement -MONDO:0060556 joint laxity, short stature, and myopia MONDO:0800086 Orphanet:527450 Orphanet:93441 obsolete primary bone dysplasia with multiple joint dislocations -MONDO:0060556 joint laxity, short stature, and myopia MONDO:8000032 Orphanet:527450 Orphanet:377789 obsolete malformation syndrome -MONDO:0060564 HELIX syndrome MONDO:0019744 Orphanet:528105 Orphanet:93603 obsolete rare renal tubular disease -MONDO:0060564 HELIX syndrome MONDO:0020194 Orphanet:528105 Orphanet:98604 obsolete congenital alacrima -MONDO:0060568 Pilarowski-Bjornsson syndrome MONDO:0035863 Orphanet:529965 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0060568 Pilarowski-Bjornsson syndrome MONDO:8000032 Orphanet:529965 Orphanet:377789 obsolete malformation syndrome -MONDO:0060578 neurodevelopmental disorder, mitochondrial, with abnormal movements and lactic acidosis, with or without seizures MONDO:0018157 Orphanet:572798 Orphanet:35696 obsolete mitochondrial disorder due to a defect in mitochondrial protein synthesis -MONDO:0060578 neurodevelopmental disorder, mitochondrial, with abnormal movements and lactic acidosis, with or without seizures MONDO:0019058 Orphanet:572798 Orphanet:68385 obsolete neurometabolic disease -MONDO:0060578 neurodevelopmental disorder, mitochondrial, with abnormal movements and lactic acidosis, with or without seizures MONDO:0035862 Orphanet:572798 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome -MONDO:0060582 auditory neuropathy-optic atrophy syndrome MONDO:0017718 Orphanet:542585 Orphanet:309136 obsolete mitochondrial disorder due to a defect in assembly or maturation of the respiratory chain complexes -MONDO:0060582 auditory neuropathy-optic atrophy syndrome MONDO:0018609 Orphanet:542585 Orphanet:441434 obsolete syndromic hereditary optic neuropathy -MONDO:0060582 auditory neuropathy-optic atrophy syndrome MONDO:0019058 Orphanet:542585 Orphanet:68385 obsolete neurometabolic disease -MONDO:0060582 auditory neuropathy-optic atrophy syndrome MONDO:0019589 Orphanet:542585 Orphanet:90642 obsolete syndromic genetic hearing loss -MONDO:0060596 neurodevelopmental disorder with dysmorphic facies and distal limb anomalies MONDO:0015982 Orphanet:528084 Orphanet:183757 obsolete rare genetic intellectual disability -MONDO:0060596 neurodevelopmental disorder with dysmorphic facies and distal limb anomalies MONDO:0019491 Orphanet:528084 Orphanet:87277 obsolete rare intellectual disability -MONDO:0060622 neurodevelopmental disorder with severe motor impairment and absent language MONDO:0035862 Orphanet:647788 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome -MONDO:0060627 glycosylphosphatidylinositol biosynthesis defect 15 MONDO:0017118 Orphanet:529665 Orphanet:269523 obsolete syndrome with a cerebellar malformation as major feature -MONDO:0060627 glycosylphosphatidylinositol biosynthesis defect 15 MONDO:0035863 Orphanet:529665 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0060627 glycosylphosphatidylinositol biosynthesis defect 15 MONDO:8000032 Orphanet:529665 Orphanet:377789 obsolete malformation syndrome -MONDO:0060631 Alkuraya-Kucinskas syndrome MONDO:0017120 Orphanet:610569 Orphanet:269531 obsolete other syndrome with a central nervous system malformation as major feature -MONDO:0060631 Alkuraya-Kucinskas syndrome MONDO:0035863 Orphanet:610569 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0060707 Ververi-Brady syndrome MONDO:0015329 Orphanet:580940 Orphanet:139021 obsolete malformation syndrome with short stature -MONDO:0060707 Ververi-Brady syndrome MONDO:0019697 Orphanet:580940 Orphanet:93438 obsolete mesomelic and rhizo-mesomelic dysplasia -MONDO:0060707 Ververi-Brady syndrome MONDO:0026187 Orphanet:580940 Orphanet:183570 obsolete genetic malformation syndrome with short stature -MONDO:0060707 Ververi-Brady syndrome MONDO:0035863 Orphanet:580940 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0060707 Ververi-Brady syndrome MONDO:8000032 Orphanet:580940 Orphanet:377789 obsolete malformation syndrome -MONDO:0060759 neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures MONDO:0018265 Orphanet:597623 Orphanet:370106 obsolete rare disorder with dystonia and other neurologic or systemic manifestation -MONDO:0100062 developmental and epileptic encephalopathy MONDO:0015921 Orphanet:1934 Orphanet:182079 obsolete ARX-related epileptic encephalopathy -MONDO:0100062 developmental and epileptic encephalopathy MONDO:0015922 Orphanet:1934 Orphanet:182083 obsolete channelopathy with epilepsy -MONDO:0100062 developmental and epileptic encephalopathy MONDO:0032013 Orphanet:1934 Orphanet:377792 obsolete clinical syndrome -MONDO:0100062 developmental and epileptic encephalopathy MONDO:0035862 Orphanet:1934 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome -MONDO:0100101 fetal akinesia deformation sequence 1 MONDO:0015221 Orphanet:994 Orphanet:108993 obsolete non-syndromic respiratory or mediastinal malformation -MONDO:0100101 fetal akinesia deformation sequence 1 MONDO:0015222 Orphanet:994 Orphanet:108995 obsolete syndromic respiratory or mediastinal malformation -MONDO:0100101 fetal akinesia deformation sequence 1 MONDO:0043008 Orphanet:994 Orphanet:330206 obsolete genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability -MONDO:0100101 fetal akinesia deformation sequence 1 MONDO:8000032 Orphanet:994 Orphanet:377789 obsolete malformation syndrome -MONDO:0100115 acute flaccid myelitis MONDO:0015141 Orphanet:623801 Orphanet:102000 obsolete disorder of medulla oblongata -MONDO:0100116 Middle East respiratory syndrome MONDO:0015118 Orphanet:576074 Orphanet:101944 obsolete rare pulmonary disease -MONDO:0100116 Middle East respiratory syndrome MONDO:0015576 Orphanet:576074 Orphanet:163585 obsolete rare viral disease -MONDO:0100130 adult acute respiratory distress syndrome MONDO:0017027 Orphanet:70578 Orphanet:264740 obsolete primary interstitial lung disease specific to adulthood -MONDO:0100133 mitochondrial complex I deficiency MONDO:0016402 Orphanet:2609 Orphanet:225700 obsolete mitochondrial disease with epilepsy -MONDO:0100133 mitochondrial complex I deficiency MONDO:0016805 Orphanet:2609 Orphanet:254846 obsolete isolated oxidative phosphorylation complex disorder -MONDO:0100133 mitochondrial complex I deficiency MONDO:0019058 Orphanet:2609 Orphanet:68385 obsolete neurometabolic disease -MONDO:0100133 mitochondrial complex I deficiency MONDO:0035862 Orphanet:2609 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome -MONDO:0100147 SATB2 associated disorder MONDO:0015336 Orphanet:576278 Orphanet:139042 obsolete malformation syndrome with odontal and/or periodontal component -MONDO:0100147 SATB2 associated disorder MONDO:0015501 Orphanet:576278 Orphanet:156237 obsolete syndrome or malformation associated with head and neck malformations -MONDO:0100147 SATB2 associated disorder MONDO:0019183 Orphanet:576278 Orphanet:77830 obsolete inherited odontologic disease -MONDO:0100147 SATB2 associated disorder MONDO:0035863 Orphanet:576278 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0100147 SATB2 associated disorder MONDO:8000032 Orphanet:576278 Orphanet:377789 obsolete malformation syndrome -MONDO:0100164 permanent neonatal diabetes mellitus MONDO:0035862 Orphanet:99885 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome -MONDO:0100186 GTP cyclohydrolase I deficiency with hyperphenylalaninemia MONDO:8000031 Orphanet:2102 Orphanet:557494 obsolete subtype of a disorder +MONDO:0044683 obsolete limbic encephalitis with neurexin-3 antibodies MONDO:0000001 Orphanet:498700 Orphanet:377788 disease MONDO:0100189 obsolete apolipoprotein A-I deficiency MONDO:0000001 Orphanet:425 Orphanet:377788 disease -MONDO:0100189 obsolete apolipoprotein A-I deficiency MONDO:0017773 Orphanet:425 Orphanet:31153 hypoalphalipoproteinemia -MONDO:0100211 growth hormone insensitivity with immune dysregulation 1, autosomal recessive MONDO:0018035 Orphanet:220465 Orphanet:331217 obsolete syndrome with combined immunodeficiency -MONDO:0100213 IFAP syndrome with or without BRESHECK syndrome MONDO:0015331 Orphanet:2273 Orphanet:139027 obsolete malformation syndrome with skin/mucosae involvement -MONDO:0100213 IFAP syndrome with or without BRESHECK syndrome MONDO:0021034 Orphanet:2273 Orphanet:481771 obsolete hereditary alopecia -MONDO:0100215 Rajab interstitial lung disease with brain calcifications 1 MONDO:0019117 Orphanet:178506 Orphanet:71859 obsolete genetic nervous system disorder -MONDO:0100215 Rajab interstitial lung disease with brain calcifications 1 MONDO:0020009 Orphanet:178506 Orphanet:98006 obsolete rare neurologic disease -MONDO:0100229 obsolete Heimler syndrome MONDO:0015336 Orphanet:3220 Orphanet:139042 obsolete malformation syndrome with odontal and/or periodontal component -MONDO:0100229 obsolete Heimler syndrome MONDO:0019287 Orphanet:3220 Orphanet:79373 ectodermal dysplasia syndrome -MONDO:0100229 obsolete Heimler syndrome MONDO:0019589 Orphanet:3220 Orphanet:90642 obsolete syndromic genetic hearing loss -MONDO:0100229 obsolete Heimler syndrome MONDO:0026190 Orphanet:3220 Orphanet:183580 obsolete genetic malformation syndrome with odontal and/or periodontal component -MONDO:0100229 obsolete Heimler syndrome MONDO:8000032 Orphanet:3220 Orphanet:377789 obsolete malformation syndrome -MONDO:0100234 paroxysmal familial ventricular fibrillation MONDO:0015110 Orphanet:228140 Orphanet:101934 obsolete genetic cardiac rhythm disease -MONDO:0100244 paroxysmal nocturnal hemoglobinuria MONDO:0015549 Orphanet:447 Orphanet:158300 obsolete rare genetic hematologic disease -MONDO:0100244 paroxysmal nocturnal hemoglobinuria MONDO:0015911 Orphanet:447 Orphanet:182047 obsolete rare acquired hemolytic anemia -MONDO:0100249 46,XX testicular disorder of sex development MONDO:0017961 Orphanet:393 Orphanet:325055 obsolete 46,XX disorder of gonadal development -MONDO:0100249 46,XX testicular disorder of sex development MONDO:0020090 Orphanet:393 Orphanet:98313 obsolete male infertility due to gonadal dysgenesis -MONDO:0100249 46,XX testicular disorder of sex development MONDO:8000032 Orphanet:393 Orphanet:377789 obsolete malformation syndrome -MONDO:0100251 familial hyperphosphatemic tumoral calcinosis/hyperphosphatemic hyperostosis syndrome MONDO:0017743 Orphanet:306661 Orphanet:309458 obsolete disorder of O-N-acetylgalactosaminylglycan synthesis -MONDO:0100251 familial hyperphosphatemic tumoral calcinosis/hyperphosphatemic hyperostosis syndrome MONDO:0018293 Orphanet:306661 Orphanet:371200 obsolete congenital disorder of glycosylation with skin involvement -MONDO:0100251 familial hyperphosphatemic tumoral calcinosis/hyperphosphatemic hyperostosis syndrome MONDO:8000031 Orphanet:306661 Orphanet:557494 obsolete subtype of a disorder -MONDO:0100253 Roberts-SC phocomelia syndrome MONDO:0015335 Orphanet:3103 Orphanet:139039 obsolete Mendelian syndromes with cleft lip/palate -MONDO:0100253 Roberts-SC phocomelia syndrome MONDO:0017432 Orphanet:3103 Orphanet:294955 obsolete syndrome with limb reduction defects -MONDO:0100253 Roberts-SC phocomelia syndrome MONDO:0020232 Orphanet:3103 Orphanet:98648 obsolete musculoskeletal disease with cataract -MONDO:0100253 Roberts-SC phocomelia syndrome MONDO:0035863 Orphanet:3103 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0100253 Roberts-SC phocomelia syndrome MONDO:8000032 Orphanet:3103 Orphanet:377789 obsolete malformation syndrome -MONDO:0100255 adenosine kinase deficiency MONDO:0019058 Orphanet:289290 Orphanet:68385 obsolete neurometabolic disease -MONDO:0100280 Waldenstrom macroglobulinemia MONDO:0016138 Orphanet:33226 Orphanet:207046 obsolete malignant lymphoma with peripheral neuropathy -MONDO:0100289 Goldmann-Favre syndrome MONDO:0034943 Orphanet:53540 Orphanet:519304 obsolete isolated vitreoretinopathy -MONDO:0100294 mitochondrial complex II deficiency, nuclear type 1 MONDO:0016805 Orphanet:3208 Orphanet:254846 obsolete isolated oxidative phosphorylation complex disorder -MONDO:0100294 mitochondrial complex II deficiency, nuclear type 1 MONDO:0035862 Orphanet:3208 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome -MONDO:0100309 hereditary ataxia MONDO:0019117 Orphanet:183518 Orphanet:71859 obsolete genetic nervous system disorder -MONDO:0100325 odontochondrodysplasia 1 MONDO:0015877 Orphanet:166272 Orphanet:180766 obsolete malformative syndrome with dentinogenesis imperfecta -MONDO:0100325 odontochondrodysplasia 1 MONDO:0026190 Orphanet:166272 Orphanet:183580 obsolete genetic malformation syndrome with odontal and/or periodontal component -MONDO:0100325 odontochondrodysplasia 1 MONDO:8000032 Orphanet:166272 Orphanet:377789 obsolete malformation syndrome -MONDO:0100326 Glanzmann thrombasthenia MONDO:0017142 Orphanet:849 Orphanet:275736 obsolete hemorrhagic disorder due to a qualitative platelet defect -MONDO:0100340 Friedreich ataxia 1 MONDO:0016136 Orphanet:95 Orphanet:207028 obsolete cerebellar ataxia with peripheral neuropathy -MONDO:0100340 Friedreich ataxia 1 MONDO:0019058 Orphanet:95 Orphanet:68385 obsolete neurometabolic disease -MONDO:0100340 Friedreich ataxia 1 MONDO:0026989 Orphanet:95 Orphanet:217595 obsolete syndrome associated with hypertrophic cardiomyopathy -MONDO:0100340 Friedreich ataxia 1 MONDO:0034961 Orphanet:95 Orphanet:519341 obsolete rare brainstem or cerebellar disorder with ophthalmic involvement as a major feature -MONDO:0100344 Bartter disease type 1 MONDO:8000031 Orphanet:620217 Orphanet:557494 obsolete subtype of a disorder -MONDO:0100347 carcinoid syndrome MONDO:0032013 Orphanet:100093 Orphanet:377792 obsolete clinical syndrome -MONDO:0100349 COACH syndrome MONDO:0015114 Orphanet:1454 Orphanet:101939 obsolete rare parenchymal liver disease -MONDO:0100349 COACH syndrome MONDO:0015508 Orphanet:1454 Orphanet:156604 obsolete hereditary parenchymatous liver disease -MONDO:0100349 COACH syndrome MONDO:0017118 Orphanet:1454 Orphanet:269523 obsolete syndrome with a cerebellar malformation as major feature -MONDO:0100349 COACH syndrome MONDO:0022409 Orphanet:1454 Orphanet:156162 obsolete nephropathy-associated ciliopathy -MONDO:0100349 COACH syndrome MONDO:0035863 Orphanet:1454 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0100354 megacystis-microcolon-intestinal hypoperistalsis syndrome 1 MONDO:0015184 Orphanet:2241 Orphanet:104009 obsolete rare disease involving intestinal motility -MONDO:0100354 megacystis-microcolon-intestinal hypoperistalsis syndrome 1 MONDO:0019721 Orphanet:2241 Orphanet:93547 obsolete syndromic renal or urinary tract malformation -MONDO:0100354 megacystis-microcolon-intestinal hypoperistalsis syndrome 1 MONDO:8000032 Orphanet:2241 Orphanet:377789 obsolete malformation syndrome -MONDO:0100367 port-wine nevi-mega cisterna magna-hydrocephalus syndrome MONDO:0017118 Orphanet:2703 Orphanet:269523 obsolete syndrome with a cerebellar malformation as major feature -MONDO:0100367 port-wine nevi-mega cisterna magna-hydrocephalus syndrome MONDO:0018719 Orphanet:2703 Orphanet:458830 obsolete obsolete rare capillary malformation with associated anomalies -MONDO:0100367 port-wine nevi-mega cisterna magna-hydrocephalus syndrome MONDO:0043008 Orphanet:2703 Orphanet:330206 obsolete genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability -MONDO:0100367 port-wine nevi-mega cisterna magna-hydrocephalus syndrome MONDO:8000032 Orphanet:2703 Orphanet:377789 obsolete malformation syndrome -MONDO:0100429 intrahepatic cholestasis of pregnancy MONDO:0015115 Orphanet:69665 Orphanet:101940 obsolete rare genetic metabolic liver disease -MONDO:0100429 intrahepatic cholestasis of pregnancy MONDO:0015582 Orphanet:69665 Orphanet:163637 obsolete rare disorder related with pregnancy, childbirth and puerperium -MONDO:0100450 CAPN5-related vitreoretinopathy MONDO:0034943 Orphanet:329211 Orphanet:519304 obsolete isolated vitreoretinopathy -MONDO:0100462 short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans MONDO:0018239 Orphanet:251262 Orphanet:364817 obsolete aggrecan-related bone disorder -MONDO:0100480 autoimmune primary adrenal insufficiency MONDO:0015130 Orphanet:85138 Orphanet:101963 obsolete acquired chronic primary adrenal insufficiency -MONDO:0100508 salivary gland type cancer of the breast MONDO:0015870 Orphanet:213557 Orphanet:180257 obsolete rare malignant breast tumor -MONDO:0100512 mitochondrial DNA depletion syndrome, hepatocerebral form MONDO:0015115 Orphanet:254871 Orphanet:101940 obsolete rare genetic metabolic liver disease -MONDO:0100527 dysplastic cortical hyperostosis, Kozlowski-Tsuruta type MONDO:8000031 Orphanet:2204 Orphanet:557494 obsolete subtype of a disorder -MONDO:0100528 Hao-Fountain syndrome due to 16p13.2 microdeletion MONDO:8000031 Orphanet:500055 Orphanet:557494 obsolete subtype of a disorder -MONDO:0700042 X-linked mendelian susceptibility to mycobacterial diseases due to IKBKG deficiency MONDO:8000031 Orphanet:319612 Orphanet:557494 obsolete subtype of a disorder -MONDO:0700220 disease related to transplantation MONDO:0032014 Orphanet:306644 Orphanet:377793 obsolete particular clinical situation in a disease or syndrome -MONDO:0700220 disease related to transplantation MONDO:0035426 Orphanet:306644 Orphanet:565779 obsolete rare disorder potentially indicated for transplant or complication after transplantation -MONDO:0800025 Teebi hypertelorism syndrome 1 MONDO:0043008 Orphanet:1519 Orphanet:330206 obsolete genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability -MONDO:0800025 Teebi hypertelorism syndrome 1 MONDO:8000032 Orphanet:1519 Orphanet:377789 obsolete malformation syndrome -MONDO:0800026 central hypoventilation syndrome, congenital, 1, with or without Hirschsprung disease MONDO:0015118 Orphanet:661 Orphanet:101944 obsolete rare pulmonary disease -MONDO:0800026 central hypoventilation syndrome, congenital, 1, with or without Hirschsprung disease MONDO:0015510 Orphanet:661 Orphanet:156610 obsolete rare genetic respiratory disease -MONDO:0800026 central hypoventilation syndrome, congenital, 1, with or without Hirschsprung disease MONDO:0018497 Orphanet:661 Orphanet:423662 obsolete rare autonomic nervous system disorder -MONDO:0800026 central hypoventilation syndrome, congenital, 1, with or without Hirschsprung disease MONDO:0018557 Orphanet:661 Orphanet:434786 obsolete rare genetic autonomic nervous system disorder -MONDO:0800027 leukoencephalopathy, diffuse hereditary, with spheroids 1 MONDO:0020136 Orphanet:313808 Orphanet:98534 obsolete neurodegenerative disease with dementia -MONDO:0800027 leukoencephalopathy, diffuse hereditary, with spheroids 1 MONDO:0021037 Orphanet:313808 Orphanet:276058 obsolete genetic neurodegenerative disease with dementia -MONDO:0800028 dyskinesia with orofacial involvement, autosomal dominant MONDO:0017657 Orphanet:324588 Orphanet:306768 obsolete rare paroxysmal movement disorder -MONDO:0800030 gastrointestinal defects and immunodeficiency syndrome 1 MONDO:0015212 Orphanet:436252 Orphanet:108969 obsolete syndromic intestinal malformation -MONDO:0800030 gastrointestinal defects and immunodeficiency syndrome 1 MONDO:0018035 Orphanet:436252 Orphanet:331217 obsolete syndrome with combined immunodeficiency -MONDO:0800042 restrictive dermopathy 1 MONDO:0015331 Orphanet:1662 Orphanet:139027 obsolete malformation syndrome with skin/mucosae involvement -MONDO:0800042 restrictive dermopathy 1 MONDO:0029813 Orphanet:1662 Orphanet:300766 obsolete laminopathy with premature aging -MONDO:0800042 restrictive dermopathy 1 MONDO:0035863 Orphanet:1662 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0800043 Stüve-Wiedemann syndrome 1 MONDO:8000032 Orphanet:3206 Orphanet:377789 obsolete malformation syndrome -MONDO:0800044 congenital disorder of deglycosylation 1 MONDO:0015949 Orphanet:404454 Orphanet:183484 obsolete rare genetic subcutaneous tissue disorder -MONDO:0800044 congenital disorder of deglycosylation 1 MONDO:0019602 Orphanet:404454 Orphanet:91088 obsolete other inborn metabolic disease -MONDO:0800044 congenital disorder of deglycosylation 1 MONDO:0020194 Orphanet:404454 Orphanet:98604 obsolete congenital alacrima -MONDO:0800044 congenital disorder of deglycosylation 1 MONDO:0029102 Orphanet:404454 Orphanet:281244 obsolete autosomal ichthyosis syndrome with other associated signs -MONDO:0800044 congenital disorder of deglycosylation 1 MONDO:0035862 Orphanet:404454 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome -MONDO:0800045 autoinflammatory syndrome, familial, Behcet-like 1 MONDO:0017957 Orphanet:476102 Orphanet:324936 obsolete unclassified autoinflammatory syndrome -MONDO:0800046 thyroid hormone metabolism, abnormal 1 MONDO:0035689 Orphanet:171706 Orphanet:596426 obsolete syndrome of reduced sensitivity to thyroid hormone -MONDO:0800084 obsolete primary bone dysplasia with increased bone density MONDO:0018230 Orphanet:93444 Orphanet:364526 skeletal dysplasia -MONDO:0800085 obsolete dysostosis with predominant craniofacial involvement MONDO:0018234 Orphanet:93453 Orphanet:364559 dysostosis -MONDO:0800085 obsolete dysostosis with predominant craniofacial involvement MONDO:0018454 Orphanet:93453 Orphanet:404568 obsolete dysostosis of genetic origin -MONDO:0800086 obsolete primary bone dysplasia with multiple joint dislocations MONDO:0018230 Orphanet:93441 Orphanet:364526 skeletal dysplasia -MONDO:0800087 obsolete type 11 collagen-related bone disorder MONDO:0031799 Orphanet:93422 Orphanet:364803 obsolete rare bone disease related to a common gene or pathway defect -MONDO:0800088 lysosomal storage disease with skeletal involvement MONDO:0015958 Orphanet:93448 Orphanet:183524 obsolete rare genetic bone disease -MONDO:0800088 lysosomal storage disease with skeletal involvement MONDO:0019684 Orphanet:93448 Orphanet:93419 obsolete rare bone disease -MONDO:0800089 obsolete primary bone dysplasia with disorganized development of skeletal components MONDO:0018230 Orphanet:93450 Orphanet:364526 skeletal dysplasia -MONDO:0800090 obsolete ectrodactyly with and without other manifestations MONDO:0018235 Orphanet:498477 Orphanet:364568 obsolete dysostosis with limb anomaly as a major feature -MONDO:0800090 obsolete ectrodactyly with and without other manifestations MONDO:0018455 Orphanet:498477 Orphanet:404571 obsolete dysostosis of genetic origin with limb anomaly as a major feature -MONDO:0800091 obsolete overgrowth or tall stature syndrome with skeletal involvement MONDO:0018230 Orphanet:498448 Orphanet:364526 skeletal dysplasia -MONDO:0800092 obsolete hereditary inflammatory or rheumatoid-like osteoarthropathy MONDO:0018230 Orphanet:498445 Orphanet:364526 skeletal dysplasia -MONDO:0800093 obsolete dysostosis with brachydactyly without extraskeletal manifestations MONDO:0019066 Orphanet:498451 Orphanet:69028 obsolete syndrome with brachydactyly -MONDO:0800094 obsolete dysostosis with brachydactyly with extraskeletal manifestations MONDO:0019066 Orphanet:498454 Orphanet:69028 obsolete syndrome with brachydactyly -MONDO:0800095 obsolete syndrome with synostosis or other joint formation defect MONDO:0015226 Orphanet:93459 Orphanet:109009 obsolete syndrome with limb malformations as a major feature -MONDO:0800095 obsolete syndrome with synostosis or other joint formation defect MONDO:0018235 Orphanet:93459 Orphanet:364568 obsolete dysostosis with limb anomaly as a major feature -MONDO:0800095 obsolete syndrome with synostosis or other joint formation defect MONDO:0018455 Orphanet:93459 Orphanet:404571 obsolete dysostosis of genetic origin with limb anomaly as a major feature -MONDO:0800167 Knobloch syndrome 1 MONDO:0034953 Orphanet:1571 Orphanet:519325 obsolete syndromic inherited retinal disorder -MONDO:0800167 Knobloch syndrome 1 MONDO:0034954 Orphanet:1571 Orphanet:519327 obsolete syndromic vitreoretinopathy -MONDO:0800167 Knobloch syndrome 1 MONDO:0035862 Orphanet:1571 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome -MONDO:0800167 Knobloch syndrome 1 MONDO:8000032 Orphanet:1571 Orphanet:377789 obsolete malformation syndrome -MONDO:0800175 cardiogenic shock MONDO:0019996 Orphanet:97292 Orphanet:97929 obsolete rare cardiac disease -MONDO:0800175 cardiogenic shock MONDO:0032014 Orphanet:97292 Orphanet:377793 obsolete particular clinical situation in a disease or syndrome -MONDO:0800436 craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development 1 MONDO:0019711 Orphanet:1394 Orphanet:93454 obsolete dysostosis with predominant vertebral and costal involvement -MONDO:0800436 craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development 1 MONDO:0035863 Orphanet:1394 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0800436 craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development 1 MONDO:8000032 Orphanet:1394 Orphanet:377789 obsolete malformation syndrome -MONDO:0800438 developmental delay with short stature, dysmorphic facial features, and sparse hair 1 MONDO:0015329 Orphanet:459061 Orphanet:139021 obsolete malformation syndrome with short stature -MONDO:0800438 developmental delay with short stature, dysmorphic facial features, and sparse hair 1 MONDO:0026187 Orphanet:459061 Orphanet:183570 obsolete genetic malformation syndrome with short stature -MONDO:0800438 developmental delay with short stature, dysmorphic facial features, and sparse hair 1 MONDO:0035863 Orphanet:459061 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0800438 developmental delay with short stature, dysmorphic facial features, and sparse hair 1 MONDO:0800085 Orphanet:459061 Orphanet:93453 obsolete dysostosis with predominant craniofacial involvement -MONDO:0800438 developmental delay with short stature, dysmorphic facial features, and sparse hair 1 MONDO:8000032 Orphanet:459061 Orphanet:377789 obsolete malformation syndrome -MONDO:0800445 Birt-Hogg-Dube syndrome 1 MONDO:0015510 Orphanet:122 Orphanet:156610 obsolete rare genetic respiratory disease -MONDO:0800445 Birt-Hogg-Dube syndrome 1 MONDO:0015950 Orphanet:122 Orphanet:183487 obsolete inherited skin tumor -MONDO:0800445 Birt-Hogg-Dube syndrome 1 MONDO:0017027 Orphanet:122 Orphanet:264740 obsolete primary interstitial lung disease specific to adulthood -MONDO:0800445 Birt-Hogg-Dube syndrome 1 MONDO:0017891 Orphanet:122 Orphanet:319328 obsolete inherited renal cancer-predisposing syndrome -MONDO:0800445 Birt-Hogg-Dube syndrome 1 MONDO:0019300 Orphanet:122 Orphanet:79386 obsolete rare skin tumor or hamartoma -MONDO:0800445 Birt-Hogg-Dube syndrome 1 MONDO:8000032 Orphanet:122 Orphanet:377789 obsolete malformation syndrome -MONDO:0800446 bleeding diathesis due to thromboxane synthesis deficiency MONDO:0018796 Orphanet:220443 Orphanet:477797 obsolete isolated constitutional thrombocytopenia -MONDO:0850001 congenital neuronal ceroid lipofuscinosis MONDO:0034953 Orphanet:168486 Orphanet:519325 obsolete syndromic inherited retinal disorder -MONDO:0850007 syndromic lacrimal system disorder MONDO:0020195 Orphanet:519274 Orphanet:98605 obsolete excretory apparatus of the lacrimal system anomaly -MONDO:0850009 syndromic microspherophakia MONDO:0020235 Orphanet:519294 Orphanet:98652 obsolete lens size anomaly -MONDO:0850010 congenital optic disk excavation MONDO:0020145 Orphanet:519333 Orphanet:98553 obsolete developmental defect of the eye -MONDO:0850030 complete hemimelia MONDO:0034668 Orphanet:498491 Orphanet:498461 obsolete terminal transverse limb defect -MONDO:0850046 amniotic fluid embolism MONDO:0015582 Orphanet:617304 Orphanet:163637 obsolete rare disorder related with pregnancy, childbirth and puerperium -MONDO:0850048 classic eosinophilic pustular folliculitis MONDO:0019546 Orphanet:617408 Orphanet:90077 obsolete other acquired skin disease -MONDO:0850049 painful legs and moving toes syndrome MONDO:0015143 Orphanet:617440 Orphanet:102003 obsolete rare movement disorder -MONDO:0850049 painful legs and moving toes syndrome MONDO:0032013 Orphanet:617440 Orphanet:377792 obsolete clinical syndrome -MONDO:0850054 hemophilia B leyden MONDO:8000031 Orphanet:617930 Orphanet:557494 obsolete subtype of a disorder -MONDO:0850058 chronic neurovisceral acid sphingomyelinase deficiency MONDO:0018299 Orphanet:618891 Orphanet:371442 obsolete sphingolipidosis with epilepsy -MONDO:0850058 chronic neurovisceral acid sphingomyelinase deficiency MONDO:0018799 Orphanet:618891 Orphanet:477811 obsolete rare hypercholesterolemia -MONDO:0850058 chronic neurovisceral acid sphingomyelinase deficiency MONDO:0019058 Orphanet:618891 Orphanet:68385 obsolete neurometabolic disease -MONDO:0850059 hereditary persistence of fetal hemoglobin-intellectual disability syndrome MONDO:0035863 Orphanet:619233 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0850065 neonatal-onset severe multisystemic autoinflammatory disease with increased IL18 MONDO:0017370 Orphanet:619363 Orphanet:290842 obsolete autoinflammatory syndrome with skin involvement -MONDO:0850065 neonatal-onset severe multisystemic autoinflammatory disease with increased IL18 MONDO:0017957 Orphanet:619363 Orphanet:324936 obsolete unclassified autoinflammatory syndrome -MONDO:0850066 SAMD9L-associated autoinflammatory syndrome MONDO:0017020 Orphanet:619367 Orphanet:264699 obsolete secondary interstitial lung disease specific to childhood associated with a systemic disease -MONDO:0850066 SAMD9L-associated autoinflammatory syndrome MONDO:0017369 Orphanet:619367 Orphanet:290839 obsolete autoinflammatory syndrome with immune deficiency -MONDO:0850066 SAMD9L-associated autoinflammatory syndrome MONDO:0017370 Orphanet:619367 Orphanet:290842 obsolete autoinflammatory syndrome with skin involvement -MONDO:0850066 SAMD9L-associated autoinflammatory syndrome MONDO:0018782 Orphanet:619367 Orphanet:477647 obsolete type 1 interferonopathy -MONDO:0850068 early-onset autoimmunity-autoinflammation-immunodeficiency syndrome MONDO:0015709 Orphanet:619948 Orphanet:169355 obsolete immunodeficiency syndrome with autoimmunity -MONDO:0850068 early-onset autoimmunity-autoinflammation-immunodeficiency syndrome MONDO:0017956 Orphanet:619948 Orphanet:324933 obsolete mixed autoinflammatory and autoimmune syndrome -MONDO:0850069 familial hyperinflammatory lymphoproliferative immunodeficiency MONDO:0017369 Orphanet:619953 Orphanet:290839 obsolete autoinflammatory syndrome with immune deficiency -MONDO:0850070 CADINS disease MONDO:0019305 Orphanet:619972 Orphanet:79391 obsolete immune deficiency with skin involvement -MONDO:0850071 developmental delay-immunodeficiency-leukoencephalopathy-hypohomocysteinemia syndrome MONDO:0018035 Orphanet:619979 Orphanet:331217 obsolete syndrome with combined immunodeficiency -MONDO:0850071 developmental delay-immunodeficiency-leukoencephalopathy-hypohomocysteinemia syndrome MONDO:0019058 Orphanet:619979 Orphanet:68385 obsolete neurometabolic disease -MONDO:0850073 non-syndromic unicoronal craniosynostosis MONDO:8000030 Orphanet:620102 Orphanet:377791 obsolete morphological anomaly -MONDO:0850074 non-syndromic unilambdoid craniosynostosis MONDO:8000030 Orphanet:620113 Orphanet:377791 obsolete morphological anomaly -MONDO:0850075 non-syndromic unifrontosphenoidal craniosynostosis MONDO:8000030 Orphanet:620139 Orphanet:377791 obsolete morphological anomaly -MONDO:0850076 non-syndromic unisquamosal craniosynostosis MONDO:8000030 Orphanet:620146 Orphanet:377791 obsolete morphological anomaly -MONDO:0850078 non-syndromic non-specific multisutural craniosynostosis MONDO:8000030 Orphanet:620158 Orphanet:377791 obsolete morphological anomaly -MONDO:0850079 non-syndromic bilambdoid craniosynostosis MONDO:8000030 Orphanet:620178 Orphanet:377791 obsolete morphological anomaly -MONDO:0850080 non-syndromic unicoronal and sagittal craniosynostosis MONDO:8000030 Orphanet:620186 Orphanet:377791 obsolete morphological anomaly -MONDO:0850081 non-syndromic metopic and sagittal craniosynostosis MONDO:8000030 Orphanet:620192 Orphanet:377791 obsolete morphological anomaly -MONDO:0850082 non-syndromic bicoronal and metopic craniosynostosis MONDO:8000030 Orphanet:620198 Orphanet:377791 obsolete morphological anomaly -MONDO:0850083 non-syndromic bicoronal and sagittal craniosynostosis MONDO:8000030 Orphanet:620205 Orphanet:377791 obsolete morphological anomaly -MONDO:0850084 non-syndromic pansynostosis MONDO:8000030 Orphanet:620212 Orphanet:377791 obsolete morphological anomaly -MONDO:0850087 primary hypomagnesemia-generalized seizures-intellectual disability-obesity syndrome MONDO:0016565 Orphanet:620363 Orphanet:240371 obsolete syndromic genetic obesity -MONDO:0850087 primary hypomagnesemia-generalized seizures-intellectual disability-obesity syndrome MONDO:0019744 Orphanet:620363 Orphanet:93603 obsolete rare renal tubular disease -MONDO:0850087 primary hypomagnesemia-generalized seizures-intellectual disability-obesity syndrome MONDO:0035862 Orphanet:620363 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome -MONDO:0850088 EGF-related primary hypomagnesemia with intellectual disability MONDO:0019744 Orphanet:620368 Orphanet:93603 obsolete rare renal tubular disease -MONDO:0850089 Gitelman-like kidney tubulopathy due to mitochondrial DNA mutation MONDO:0016793 Orphanet:620371 Orphanet:254776 obsolete mitochondrial oxidative phosphorylation disorder due to a point mutation of mitochondrial DNA -MONDO:0850089 Gitelman-like kidney tubulopathy due to mitochondrial DNA mutation MONDO:0019743 Orphanet:620371 Orphanet:93593 obsolete nephropathy secondary to a storage or other metabolic disease -MONDO:0850089 Gitelman-like kidney tubulopathy due to mitochondrial DNA mutation MONDO:0019744 Orphanet:620371 Orphanet:93603 obsolete rare renal tubular disease -MONDO:0850090 fibrosis-neurodegeneration-cerebral angiomatosis syndrome MONDO:0015918 Orphanet:621758 Orphanet:182070 obsolete rare neurodegenerative disease -MONDO:0850090 fibrosis-neurodegeneration-cerebral angiomatosis syndrome MONDO:0018787 Orphanet:621758 Orphanet:477754 obsolete genetic cerebral small vessel disease -MONDO:0850090 fibrosis-neurodegeneration-cerebral angiomatosis syndrome MONDO:0028569 Orphanet:621758 Orphanet:264992 obsolete genetic interstitial lung disease -MONDO:0850095 X-linked severe syndromic thoracic aortic aneurysm and dissection MONDO:0017311 Orphanet:622925 Orphanet:285014 obsolete rare disease with thoracic aortic aneurysm and aortic dissection -MONDO:0850095 X-linked severe syndromic thoracic aortic aneurysm and dissection MONDO:0800091 Orphanet:622925 Orphanet:498448 obsolete overgrowth or tall stature syndrome with skeletal involvement -MONDO:0850095 X-linked severe syndromic thoracic aortic aneurysm and dissection MONDO:8000032 Orphanet:622925 Orphanet:377789 obsolete malformation syndrome -MONDO:0850096 SBDS-related severe neonatal spondylometaphyseal dysplasia MONDO:8000032 Orphanet:622934 Orphanet:377789 obsolete malformation syndrome -MONDO:0850099 MIR140-related spondyloepiphyseal dysplasia MONDO:8000032 Orphanet:623695 Orphanet:377789 obsolete malformation syndrome -MONDO:0850100 body integrity dysphoria MONDO:0020016 Orphanet:623789 Orphanet:98033 obsolete rare neurologic disease with psychiatric involvement -MONDO:0850102 non-specific autoimmune supratentorial encephalitis with characteristic antibodies MONDO:0015657 Orphanet:624166 Orphanet:166484 obsolete inflammatory and autoimmune disease with epilepsy -MONDO:0850103 non-specific autoimmune supratentorial encephalitis without characteristic antibodies MONDO:0015657 Orphanet:624178 Orphanet:166484 obsolete inflammatory and autoimmune disease with epilepsy -MONDO:0850115 early-onset obesity-hyperphagia-severe developmental delay syndrome MONDO:0015878 Orphanet:99704 Orphanet:180772 obsolete rare disease with autism -MONDO:0850115 early-onset obesity-hyperphagia-severe developmental delay syndrome MONDO:0016565 Orphanet:99704 Orphanet:240371 obsolete syndromic genetic obesity -MONDO:0850115 early-onset obesity-hyperphagia-severe developmental delay syndrome MONDO:0035862 Orphanet:99704 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome -MONDO:0858989 autosomal recessive spastic paraplegia type 84 MONDO:0015089 Orphanet:631079 Orphanet:100981 obsolete autosomal recessive complex spastic paraplegia -MONDO:0858990 autosomal recessive spastic paraplegia type 85 MONDO:0015089 Orphanet:631082 Orphanet:100981 obsolete autosomal recessive complex spastic paraplegia -MONDO:0858991 autosomal recessive spastic paraplegia type 86 MONDO:0015089 Orphanet:631085 Orphanet:100981 obsolete autosomal recessive complex spastic paraplegia -MONDO:0858992 autosomal recessive spastic paraplegia type 87 MONDO:0017915 Orphanet:631088 Orphanet:320346 obsolete pure or complex autosomal recessive spastic paraplegia -MONDO:0858997 cancer of unknown primary site MONDO:0020031 Orphanet:631251 Orphanet:98057 obsolete rare tumor -MONDO:0858998 mesomelic dysplasia-digital anomalies-intellectual disability syndrome MONDO:0019697 Orphanet:632603 Orphanet:93438 obsolete mesomelic and rhizo-mesomelic dysplasia -MONDO:0858998 mesomelic dysplasia-digital anomalies-intellectual disability syndrome MONDO:0035863 Orphanet:632603 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0858998 mesomelic dysplasia-digital anomalies-intellectual disability syndrome MONDO:8000032 Orphanet:632603 Orphanet:377789 obsolete malformation syndrome -MONDO:0858999 KDM3B-related intellectual disability-facial dysmorphism-short stature syndrome MONDO:0015329 Orphanet:633004 Orphanet:139021 obsolete malformation syndrome with short stature -MONDO:0858999 KDM3B-related intellectual disability-facial dysmorphism-short stature syndrome MONDO:0026187 Orphanet:633004 Orphanet:183570 obsolete genetic malformation syndrome with short stature -MONDO:0858999 KDM3B-related intellectual disability-facial dysmorphism-short stature syndrome MONDO:0035863 Orphanet:633004 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0859000 SLC12A2-related developmental delay-intellectual disability-sensorineural deafness syndrome MONDO:0019589 Orphanet:633014 Orphanet:90642 obsolete syndromic genetic hearing loss -MONDO:0859000 SLC12A2-related developmental delay-intellectual disability-sensorineural deafness syndrome MONDO:0035862 Orphanet:633014 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome -MONDO:0859002 intellectual disability-early-onset cataract-microcephaly syndrome MONDO:0017119 Orphanet:633035 Orphanet:269528 obsolete syndrome with microcephaly as major feature -MONDO:0859002 intellectual disability-early-onset cataract-microcephaly syndrome MONDO:0020225 Orphanet:633035 Orphanet:98641 obsolete syndromic cataract -MONDO:0859002 intellectual disability-early-onset cataract-microcephaly syndrome MONDO:0035863 Orphanet:633035 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0859002 intellectual disability-early-onset cataract-microcephaly syndrome MONDO:8000032 Orphanet:633035 Orphanet:377789 obsolete malformation syndrome -MONDO:0859003 PAICS deficiency MONDO:0018731 Orphanet:633099 Orphanet:459787 obsolete lethal multiple congenital anomalies/dysmorphic syndrome -MONDO:0859003 PAICS deficiency MONDO:8000032 Orphanet:633099 Orphanet:377789 obsolete malformation syndrome -MONDO:0859004 invasive scopulariopsis infection MONDO:0015578 Orphanet:633124 Orphanet:163591 obsolete rare mycosis -MONDO:0859004 invasive scopulariopsis infection MONDO:0035426 Orphanet:633124 Orphanet:565779 obsolete rare disorder potentially indicated for transplant or complication after transplantation -MONDO:0859005 preaxial digit brachydactyly-webbed fingers MONDO:0800093 Orphanet:633211 Orphanet:498451 obsolete dysostosis with brachydactyly without extraskeletal manifestations -MONDO:0859005 preaxial digit brachydactyly-webbed fingers MONDO:8000032 Orphanet:633211 Orphanet:377789 obsolete malformation syndrome -MONDO:0859006 proximal femoral focal deficiency MONDO:0017420 Orphanet:633228 Orphanet:294927 obsolete intercalary limb defects -MONDO:0859006 proximal femoral focal deficiency MONDO:8000030 Orphanet:633228 Orphanet:377791 obsolete morphological anomaly -MONDO:0859008 neurofibromatosis/schwannomatosis MONDO:0016756 Orphanet:634518 Orphanet:252190 obsolete inherited nervous system cancer-predisposing syndrome -MONDO:0859139 blepharophimosis-impaired intellectual development syndrome MONDO:8000032 Orphanet:637013 Orphanet:377789 obsolete malformation syndrome -MONDO:0859200 cerebellar ataxia, brain abnormalities, and cardiac conduction defects MONDO:0035862 Orphanet:641361 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome -MONDO:0859761 SLC12A2-related autosomal recessive neonatal-developmental delay-intellectual disability-feeding difficulty-sensorineural deafness syndrome MONDO:8000031 Orphanet:633021 Orphanet:557494 obsolete subtype of a disorder -MONDO:0859762 SLC12A2-related autosomal dominant infantile-developmental delay-intellectual disability-sensorineural deafness syndrome MONDO:8000031 Orphanet:633024 Orphanet:557494 obsolete subtype of a disorder -MONDO:0957001 obsolete hereditary mixed dermis disorder MONDO:0026160 Orphanet:183481 Orphanet:183472 obsolete genetic dermis disorder -MONDO:0957003 hereditary neuro-ophthalmological disease MONDO:0035037 Orphanet:183616 Orphanet:522504 obsolete rare genetic disorder of the visual organs -MONDO:0957024 obsolete hereditary 46,XX disorder of sex development MONDO:0031016 Orphanet:325697 Orphanet:325690 obsolete genetic disorder of sex development -MONDO:0957025 obsolete hereditary 46,XY disorder of sex development MONDO:0031016 Orphanet:325706 Orphanet:325690 obsolete genetic disorder of sex development -MONDO:0957097 hereditary hemolytic uremic syndrome MONDO:0015910 Orphanet:576742 Orphanet:182043 obsolete rare constitutional hemolytic anemia -MONDO:0957097 hereditary hemolytic uremic syndrome MONDO:0026193 Orphanet:576742 Orphanet:183589 obsolete genetic thrombotic microangiopathy -MONDO:0957421 borna virus encephalitis MONDO:0015659 Orphanet:637051 Orphanet:166490 obsolete infectious disease with epilepsy -MONDO:0957426 autosomal recessive hyper-IgE syndrome MONDO:0019305 Orphanet:641368 Orphanet:79391 obsolete immune deficiency with skin involvement -MONDO:0957426 autosomal recessive hyper-IgE syndrome MONDO:0026166 Orphanet:641368 Orphanet:183494 obsolete genetic immune deficiency with skin involvement -MONDO:0957430 childhood-onset schizophrenia MONDO:0020016 Orphanet:641496 Orphanet:98033 obsolete rare neurologic disease with psychiatric involvement -MONDO:0957431 endogenous Cushing syndrome MONDO:0015124 Orphanet:641613 Orphanet:101954 obsolete rare adrenal disease -MONDO:0957432 neonatal compartment syndrome MONDO:0024471 Orphanet:641829 Orphanet:496924 obsolete non-inflammatory vasculopathy -MONDO:0957432 neonatal compartment syndrome MONDO:0032013 Orphanet:641829 Orphanet:377792 obsolete clinical syndrome -MONDO:0957442 autosomal recessive ataxia due to PEX16 deficiency MONDO:0019058 Orphanet:642954 Orphanet:68385 obsolete neurometabolic disease -MONDO:0957443 autosomal recessive ataxia due to PEX2 deficiency MONDO:0019058 Orphanet:642965 Orphanet:68385 obsolete neurometabolic disease -MONDO:0957451 non-terminal myelocystocele MONDO:8000030 Orphanet:645340 Orphanet:377791 obsolete morphological anomaly -MONDO:0957452 segmental arterial mediolysis MONDO:0024471 Orphanet:645350 Orphanet:496924 obsolete non-inflammatory vasculopathy -MONDO:0957453 true myelomeningocele MONDO:8000031 Orphanet:645383 Orphanet:557494 obsolete subtype of a disorder -MONDO:0957454 hemi-myelomeningocele MONDO:8000031 Orphanet:645388 Orphanet:557494 obsolete subtype of a disorder -MONDO:0957456 classical dermatomyositis MONDO:8000031 Orphanet:645613 Orphanet:557494 obsolete subtype of a disorder -MONDO:0957458 adermatopathic dermatomyositis MONDO:8000031 Orphanet:645626 Orphanet:557494 obsolete subtype of a disorder -MONDO:0957459 congenital esophageal stenosis MONDO:0015207 Orphanet:645749 Orphanet:108959 obsolete non-syndromic esophageal malformation -MONDO:0957459 congenital esophageal stenosis MONDO:8000030 Orphanet:645749 Orphanet:377791 obsolete morphological anomaly -MONDO:0957460 spontaneous intestinal perforation MONDO:0015245 Orphanet:645793 Orphanet:117569 obsolete rare intestinal disease -MONDO:0957460 spontaneous intestinal perforation MONDO:0015621 Orphanet:645793 Orphanet:165711 obsolete rare abdominal surgical disease -MONDO:0957462 primary pulmonary tuberculosis MONDO:0015118 Orphanet:645814 Orphanet:101944 obsolete rare pulmonary disease -MONDO:0957463 primary bone and joint tuberculosis MONDO:0019684 Orphanet:645822 Orphanet:93419 obsolete rare bone disease -MONDO:0957464 primary cutaneous tuberculosis MONDO:0019546 Orphanet:645849 Orphanet:90077 obsolete other acquired skin disease -MONDO:0957465 multifocal tuberculosis MONDO:0019843 Orphanet:645854 Orphanet:95617 obsolete pituitary hormone deficiency secondary to a granulomatous disease -MONDO:0957466 primary tuberculosis of the digestive system MONDO:0019997 Orphanet:645859 Orphanet:97935 obsolete rare gastroenterologic disease -MONDO:0957467 primary genito-urinary tuberculosis MONDO:0018396 Orphanet:645874 Orphanet:399824 obsolete rare male fertility disorder with obstructive azoospermia -MONDO:0957473 craniosynostosis-facial dysmorphism-chiari-1 malformation-developmental and language delay syndrome MONDO:8000032 Orphanet:647681 Orphanet:377789 obsolete malformation syndrome -MONDO:0957476 isolated persistent urogenital sinus MONDO:0015932 Orphanet:647794 Orphanet:182117 obsolete non-syndromic urogenital tract malformation of female -MONDO:0957476 isolated persistent urogenital sinus MONDO:8000030 Orphanet:647794 Orphanet:377791 obsolete morphological anomaly -MONDO:0957477 MYT1L-related developmental delay-intellectual disability-obesity syndrome MONDO:0016565 Orphanet:647799 Orphanet:240371 obsolete syndromic genetic obesity -MONDO:0957477 MYT1L-related developmental delay-intellectual disability-obesity syndrome MONDO:0020016 Orphanet:647799 Orphanet:98033 obsolete rare neurologic disease with psychiatric involvement -MONDO:0957477 MYT1L-related developmental delay-intellectual disability-obesity syndrome MONDO:0035862 Orphanet:647799 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome -MONDO:0957481 idiopathic pregnancy-associated osteoporosis MONDO:0015582 Orphanet:647823 Orphanet:163637 obsolete rare disorder related with pregnancy, childbirth and puerperium -MONDO:0957481 idiopathic pregnancy-associated osteoporosis MONDO:0019684 Orphanet:647823 Orphanet:93419 obsolete rare bone disease -MONDO:0957487 idiopathic catatonia MONDO:0020016 Orphanet:648919 Orphanet:98033 obsolete rare neurologic disease with psychiatric involvement -MONDO:0957556 congenital pulmonary vein atresia MONDO:8000030 Orphanet:99126 Orphanet:377791 obsolete morphological anomaly -MONDO:8000006 WHIM syndrome 1 MONDO:0018032 Orphanet:51636 Orphanet:331184 obsolete constitutional neutropenia with extra-hematopoietic manifestations -MONDO:8000006 WHIM syndrome 1 MONDO:0018033 Orphanet:51636 Orphanet:331193 obsolete other immunodeficiency syndromes due to defects in innate immunity -MONDO:8000008 Martsolf syndrome 1 MONDO:0015890 Orphanet:1387 Orphanet:181387 obsolete rare disorder with congenital hypogonadotropic hypogonadism -MONDO:8000008 Martsolf syndrome 1 MONDO:0020225 Orphanet:1387 Orphanet:98641 obsolete syndromic cataract -MONDO:8000008 Martsolf syndrome 1 MONDO:0035863 Orphanet:1387 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:8000008 Martsolf syndrome 1 MONDO:8000032 Orphanet:1387 Orphanet:377789 obsolete malformation syndrome -MONDO:8000010 antiphospholipid syndrome MONDO:0015582 Orphanet:80 Orphanet:163637 obsolete rare disorder related with pregnancy, childbirth and puerperium -MONDO:8000010 antiphospholipid syndrome MONDO:0015939 Orphanet:80 Orphanet:182228 obsolete systemic autoimmune disease -MONDO:8000010 antiphospholipid syndrome MONDO:0016634 Orphanet:80 Orphanet:248365 obsolete thrombotic disorder due to an acquired coagulation factors defect -MONDO:8000011 visceral neuropathy, familial, 1, autosomal recessive MONDO:8000031 Orphanet:99811 Orphanet:557494 obsolete subtype of a disorder -MONDO:8000012 neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset 1 MONDO:0015112 Orphanet:456312 Orphanet:101937 obsolete rare pancreatic disease -MONDO:8000012 neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset 1 MONDO:0015361 Orphanet:456312 Orphanet:140459 obsolete autosomal recessive hereditary demyelinating motor and sensory neuropathy -MONDO:8000012 neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset 1 MONDO:0015618 Orphanet:456312 Orphanet:165661 obsolete genetic pancreatic disease -MONDO:8000012 neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset 1 MONDO:0015778 Orphanet:456312 Orphanet:177107 obsolete syndromic hypothyroidism -MONDO:8000012 neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset 1 MONDO:0019589 Orphanet:456312 Orphanet:90642 obsolete syndromic genetic hearing loss -MONDO:8000012 neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset 1 MONDO:0035863 Orphanet:456312 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:8000015 46,XY sex reversal 11 MONDO:0017966 Orphanet:983 Orphanet:325118 obsolete 46,XY disorder of gonadal development -MONDO:8000015 46,XY sex reversal 11 MONDO:0020090 Orphanet:983 Orphanet:98313 obsolete male infertility due to gonadal dysgenesis -MONDO:8000015 46,XY sex reversal 11 MONDO:8000030 Orphanet:983 Orphanet:377791 obsolete morphological anomaly -MONDO:8000030 obsolete morphological anomaly MONDO:8000034 Orphanet:377791 Orphanet:557493 obsolete disorder -MONDO:8000032 obsolete malformation syndrome MONDO:8000034 Orphanet:377789 Orphanet:557493 obsolete disorder diff --git a/src/ontology/reports/ordo.subclass.added.robot.tsv b/src/ontology/reports/ordo.subclass.added.robot.tsv index f267175a..349b8c6c 100644 --- a/src/ontology/reports/ordo.subclass.added.robot.tsv +++ b/src/ontology/reports/ordo.subclass.added.robot.tsv @@ -1,1303 +1,23 @@ subject_mondo_id subject_mondo_label object_mondo_id subject_source_id object_source_id object_mondo_label -ID AI MONDO:excluded_subClassOf >A oboInOwl:source -MONDO:0000044 hereditary hypophosphatemic rickets MONDO:0015962 Orphanet:437 Orphanet:183592 inherited renal tubular disease -MONDO:0000044 hereditary hypophosphatemic rickets MONDO:0017322 Orphanet:437 Orphanet:289098 disorders of vitamin D metabolism -MONDO:0000087 polymicrogyria MONDO:0015159 Orphanet:35981 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0000141 mosaic variegated aneuploidy syndrome MONDO:0015159 Orphanet:1052 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0000171 muscular dystrophy-dystroglycanopathy, type A MONDO:0016156 Orphanet:899 Orphanet:207119 qualitative or quantitative defects of FKRP -MONDO:0000171 muscular dystrophy-dystroglycanopathy, type A MONDO:0016184 Orphanet:899 Orphanet:209030 qualitative or quantitative defects of protein O-mannosyltransferase 1 -MONDO:0000171 muscular dystrophy-dystroglycanopathy, type A MONDO:0016185 Orphanet:899 Orphanet:209033 qualitative or quantitative defects of protein O-mannosyltransferase 2 -MONDO:0000200 Zimmermann-Laband syndrome MONDO:0015159 Orphanet:3473 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0000565 infective endocarditis MONDO:0016345 Orphanet:570762 Orphanet:217720 non-familial restrictive cardiomyopathy -MONDO:0000688 inborn organic aciduria MONDO:0019189 Orphanet:289899 Orphanet:79062 inborn disorder of amino acid and other organic acid metabolism -MONDO:0000902 agenesis of the corpus callosum with peripheral neuropathy MONDO:0015159 Orphanet:1496 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0000903 myoclonus-dystonia syndrome MONDO:0957114 Orphanet:36899 Orphanet:98741 neurological muscular channelopathy due to a genetic potassium channel defect -MONDO:0001549 hemolytic-uremic syndrome MONDO:0019737 Orphanet:544458 Orphanet:93573 thrombotic microangiopathy -MONDO:0001586 mucopolysaccharidosis type 1 MONDO:0800088 Orphanet:579 Orphanet:93448 lysosomal storage disease with skeletal involvement -MONDO:0001595 choreatic disease MONDO:0015548 Orphanet:1429 Orphanet:158266 Huntington disease-like syndrome -MONDO:0001734 tuberous sclerosis MONDO:0019294 Orphanet:805 Orphanet:79380 mixed dermis disorder -MONDO:0001734 tuberous sclerosis MONDO:0019741 Orphanet:805 Orphanet:93587 familial cystic renal disease -MONDO:0002474 primary hyperoxaluria MONDO:0017703 Orphanet:416 Orphanet:308998 disorder of glyoxylate metabolism -MONDO:0002520 hepatic porphyria MONDO:0019142 Orphanet:95157 Orphanet:738 inherited porphyria -MONDO:0003795 ovarian small cell carcinoma MONDO:0018365 Orphanet:370396 Orphanet:398940 malignant non-epithelial tumor of ovary -MONDO:0005035 ganglioneuroblastoma MONDO:0016713 Orphanet:251877 Orphanet:251870 central nervous system Ewing sarcoma/peripheral primitive neuroectodermal tumor -MONDO:0005048 pancreatic insulin-producing neuroendocrine tumor MONDO:0023206 Orphanet:97279 Orphanet:506060 functional pancreatic neuroendocrine tumor -MONDO:0005072 neuroblastoma MONDO:0016713 Orphanet:635 Orphanet:251870 central nervous system Ewing sarcoma/peripheral primitive neuroectodermal tumor -MONDO:0005100 systemic sclerosis MONDO:0016345 Orphanet:90291 Orphanet:217720 non-familial restrictive cardiomyopathy -MONDO:0005116 Whipple disease MONDO:0015979 Orphanet:3452 Orphanet:183710 hereditary predisposition to infections -MONDO:0005164 fibrosarcoma MONDO:0021054 Orphanet:2030 Orphanet:223727 bone sarcoma -MONDO:0005272 myelodysplastic syndrome with single lineage dysplasia MONDO:0019453 Orphanet:98826 Orphanet:86836 myelodysplastic syndrome with multilineage dysplasia -MONDO:0005502 dengue disease MONDO:0018093 Orphanet:99828 Orphanet:344 arbovirus fever -MONDO:0005764 follicular dendritic cell sarcoma MONDO:0018078 Orphanet:86902 Orphanet:3394 soft tissue sarcoma -MONDO:0005797 HIV wasting syndrome MONDO:0017769 Orphanet:90081 Orphanet:310050 acquired immunodeficiency -MONDO:0005817 Kluver-Bucy syndrome MONDO:0006009 Orphanet:157823 Orphanet:98252 viral encephalitis -MONDO:0005823 legionellosis MONDO:0005823 Orphanet:549 Orphanet:600832 legionellosis -MONDO:0006033 diffuse intrinsic pontine glioma MONDO:0016680 Orphanet:497188 Orphanet:251561 high grade astrocytic tumor -MONDO:0006037 hydrolethalus syndrome MONDO:0005308 Orphanet:2189 Orphanet:363250 ciliopathy -MONDO:0006238 growth hormone-producing pituitary gland adenoma MONDO:0003429 Orphanet:96256 Orphanet:314753 functioning pituitary gland adenoma -MONDO:0006825 kuru MONDO:0035562 Orphanet:454745 Orphanet:576360 acquired human prion disease -MONDO:0006976 somatostatinoma MONDO:0015063 Orphanet:97283 Orphanet:100076 duodenal neuroendocrine tumor, well differentiated, low or intermediate grade -MONDO:0006976 somatostatinoma MONDO:0015064 Orphanet:97283 Orphanet:100077 jejunal neuroendocrine tumor, well differentiated, low or intermediate grade -MONDO:0006976 somatostatinoma MONDO:0023206 Orphanet:97283 Orphanet:506060 functional pancreatic neuroendocrine tumor -MONDO:0007034 Adams-Oliver syndrome MONDO:0015159 Orphanet:974 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0007034 Adams-Oliver syndrome MONDO:0019294 Orphanet:974 Orphanet:79380 mixed dermis disorder -MONDO:0007039 neurofibromatosis type 2 MONDO:0859008 Orphanet:637 Orphanet:634518 neurofibromatosis/schwannomatosis -MONDO:0007041 Apert syndrome MONDO:0015159 Orphanet:87 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0007073 Hypoglossia-hypodactyly syndrome MONDO:0015159 Orphanet:989 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0007085 alopecia-epilepsy-pyorrhea-intellectual disability syndrome MONDO:0004907 Orphanet:1008 Orphanet:79364 alopecia -MONDO:0007113 Angelman syndrome MONDO:0015159 Orphanet:72 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0007119 isolated aniridia MONDO:0011119 Orphanet:250923 Orphanet:98634 iridogoniodysgenesis -MONDO:0007123 ankyloblepharon filiforme adnatum-cleft palate syndrome MONDO:0007124 Orphanet:1072 Orphanet:1071 ankyloblepharon-ectodermal defects-cleft lip/palate syndrome -MONDO:0007142 Townes-Brocks syndrome MONDO:0015159 Orphanet:857 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0007168 atelosteogenesis type III MONDO:0015159 Orphanet:56305 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0007176 helicoid peripapillary chorioretinal degeneration MONDO:0957337 Orphanet:86813 Orphanet:519300 isolated chorioretinal dystrophy -MONDO:0007230 Brachymorphism-onychodysplasia-dysphalangism syndrome MONDO:0015159 Orphanet:1292 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0007251 campomelic dysplasia MONDO:0015159 Orphanet:140 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0007276 cat-eye syndrome MONDO:0850008 Orphanet:195 Orphanet:519276 anterior segment developmental abnormality with extraocular manifestations -MONDO:0007294 central core myopathy MONDO:0957115 Orphanet:597 Orphanet:98742 neurological muscular channelopathy due to a genetic ryanodine receptor defect -MONDO:0007301 cerebrocostomandibular syndrome MONDO:0015159 Orphanet:1393 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0007318 Alagille syndrome MONDO:0850008 Orphanet:52 Orphanet:519276 anterior segment developmental abnormality with extraocular manifestations -MONDO:0007334 autosomal dominant popliteal pterygium syndrome MONDO:0015159 Orphanet:1300 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0007354 coloboma of optic nerve MONDO:0850010 Orphanet:98947 Orphanet:519333 congenital optic disk excavation -MONDO:0007355 uveal coloboma-cleft lip and palate-intellectual disability MONDO:0850008 Orphanet:1473 Orphanet:519276 anterior segment developmental abnormality with extraocular manifestations -MONDO:0007398 craniorhiny MONDO:0016643 Orphanet:157832 Orphanet:250 frontonasal dysplasia -MONDO:0007412 Beare-Stevenson cutis gyrata syndrome MONDO:0021154 Orphanet:1555 Orphanet:79381 dermis disorder -MONDO:0007526 Ehlers-Danlos syndrome, spondylodysplastic type MONDO:0015159 Orphanet:75496 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0007526 Ehlers-Danlos syndrome, spondylodysplastic type MONDO:0034021 Orphanet:75496 Orphanet:536471 spondylodysplastic Ehlers-Danlos syndrome -MONDO:0007534 Beckwith-Wiedemann syndrome MONDO:0015496 Orphanet:116 Orphanet:156207 macroglossia -MONDO:0007539 encephalopathy, recurrent, of childhood MONDO:0100309 Orphanet:2672 Orphanet:183518 hereditary ataxia -MONDO:0007552 pretibial dystrophic epidermolysis bullosa MONDO:0035349 Orphanet:79410 Orphanet:595356 localized dystrophic epidermolysis bullosa -MONDO:0007558 benign occipital epilepsy MONDO:0020072 Orphanet:25968 Orphanet:98259 childhood-onset epilepsy syndrome -MONDO:0007590 hemifacial hypertrophy MONDO:0015496 Orphanet:141145 Orphanet:156207 macroglossia -MONDO:0007606 fibrodysplasia ossificans progressiva MONDO:0015159 Orphanet:337 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0007630 North Carolina macular dystrophy MONDO:0957048 Orphanet:75327 Orphanet:519302 isolated macular dystrophy -MONDO:0007640 Sorsby fundus dystrophy MONDO:0957048 Orphanet:59181 Orphanet:519302 isolated macular dystrophy -MONDO:0007640 Sorsby fundus dystrophy MONDO:0957337 Orphanet:59181 Orphanet:519300 isolated chorioretinal dystrophy -MONDO:0007669 renal cysts and diabetes syndrome MONDO:0008264 Orphanet:93111 Orphanet:34149 autosomal dominant medullary cystic kidney disease with or without hyperuricemia -MONDO:0007679 GMS syndrome MONDO:0015159 Orphanet:2090 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0007679 GMS syndrome MONDO:0850008 Orphanet:2090 Orphanet:519276 anterior segment developmental abnormality with extraocular manifestations -MONDO:0007690 aromatase excess syndrome MONDO:0015791 Orphanet:178345 Orphanet:178040 peripheral precocious puberty -MONDO:0007762 hyperlipoproteinemia type V MONDO:0018637 Orphanet:530849 Orphanet:444490 familial chylomicronemia syndrome -MONDO:0007800 chromosome 18p deletion syndrome MONDO:0007800 Orphanet:1598 Orphanet:261974 chromosome 18p deletion syndrome -MONDO:0007803 multiple system atrophy MONDO:0015914 Orphanet:102 Orphanet:182058 primary orthostatic hypotension -MONDO:0007804 Pallister-Hall syndrome MONDO:0015159 Orphanet:672 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0007808 ichthyosis hystrix of Curth-Macklin MONDO:0017266 Orphanet:79503 Orphanet:281103 keratinopathic ichthyosis -MONDO:0007827 inclusion body myositis MONDO:0020122 Orphanet:611 Orphanet:98482 acquired idiopathic inflammatory myopathy -MONDO:0007846 KBG syndrome MONDO:0015338 Orphanet:2332 Orphanet:139393 syndromic craniosynostosis -MONDO:0007856 palmoplantar keratoderma-esophageal carcinoma syndrome MONDO:0015356 Orphanet:2198 Orphanet:140162 hereditary neoplastic syndrome -MONDO:0007862 Waardenburg syndrome type 3 MONDO:0008537 Orphanet:896 Orphanet:98575 telecanthus -MONDO:0007864 angioosteohypertrophic syndrome MONDO:0007864 Orphanet:90308 Orphanet:2346 angioosteohypertrophic syndrome -MONDO:0007864 angioosteohypertrophic syndrome MONDO:0019293 Orphanet:2346 Orphanet:79379 skin vascular disease -MONDO:0007893 Noonan syndrome with multiple lentigines MONDO:0019289 Orphanet:500 Orphanet:79375 hyperpigmentation of the skin -MONDO:0007893 Noonan syndrome with multiple lentigines MONDO:0850064 Orphanet:500 Orphanet:619340 inherited hematologic cancer-predisposing syndrome -MONDO:0007896 acute monocytic leukemia MONDO:0015667 Orphanet:514 Orphanet:167714 acute myeloid leukemia by FAB classification -MONDO:0007906 familial partial lipodystrophy, Dunnigan type MONDO:0015333 Orphanet:2348 Orphanet:139033 progeroid syndrome -MONDO:0007915 systemic lupus erythematosus MONDO:0019737 Orphanet:536 Orphanet:93573 thrombotic microangiopathy -MONDO:0007931 vitelliform macular dystrophy 2 MONDO:0957048 Orphanet:1243 Orphanet:519302 isolated macular dystrophy -MONDO:0007934 benign concentric annular macular dystrophy MONDO:0957048 Orphanet:251287 Orphanet:519302 isolated macular dystrophy -MONDO:0007935 cystoid macular edema MONDO:0957048 Orphanet:75381 Orphanet:519302 isolated macular dystrophy -MONDO:0007947 Marfan syndrome MONDO:0007947 Orphanet:284963 Orphanet:558 Marfan syndrome -MONDO:0007988 autosomal dominant primary microcephaly MONDO:0015159 Orphanet:2514 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0007993 microgastria-limb reduction defect syndrome MONDO:0015159 Orphanet:2538 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0007998 microspherophakia-metaphyseal dysplasia syndrome MONDO:0850009 Orphanet:2551 Orphanet:519294 syndromic microspherophakia -MONDO:0008006 Mobius syndrome MONDO:0015159 Orphanet:570 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0008045 spinal muscular atrophy-progressive myoclonic epilepsy syndrome MONDO:0020074 Orphanet:2590 Orphanet:98261 progressive myoclonus epilepsy -MONDO:0008047 episodic ataxia type 1 MONDO:0015653 Orphanet:37612 Orphanet:166472 monogenic epilepsy -MONDO:0008050 MYH7-related skeletal myopathy MONDO:0016108 Orphanet:59135 Orphanet:206650 autosomal dominant distal myopathy -MONDO:0008075 schwannomatosis MONDO:0859008 Orphanet:93921 Orphanet:634518 neurofibromatosis/schwannomatosis -MONDO:0008082 multiple endocrine neoplasia type 2B MONDO:0021227 Orphanet:247709 Orphanet:100091 adrenal gland neoplasm -MONDO:0008108 oculocerebrocutaneous syndrome MONDO:0015650 Orphanet:1647 Orphanet:166463 epilepsy syndrome -MONDO:0008111 oculodentodigital dysplasia MONDO:0015159 Orphanet:2710 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0008137 orofaciodigital syndrome X MONDO:0015159 Orphanet:2756 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0008138 syndromic orbital border hypoplasia MONDO:0850007 Orphanet:98606 Orphanet:519274 syndromic lacrimal system disorder -MONDO:0008145 Ollier disease MONDO:0015356 Orphanet:296 Orphanet:140162 hereditary neoplastic syndrome -MONDO:0008145 Ollier disease MONDO:0019716 Orphanet:296 Orphanet:93460 overgrowth syndrome -MONDO:0008150 osteoglophonic dwarfism MONDO:0015338 Orphanet:2645 Orphanet:139393 syndromic craniosynostosis -MONDO:0008158 dacryocystitis-osteopoikilosis syndrome MONDO:0850007 Orphanet:1562 Orphanet:519274 syndromic lacrimal system disorder -MONDO:0008163 otofaciocervical syndrome MONDO:0015159 Orphanet:2792 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0008185 hereditary chronic pancreatitis MONDO:0015967 Orphanet:676 Orphanet:183625 monogenic diabetes -MONDO:0008195 paramyotonia congenita of Von Eulenburg MONDO:0957111 Orphanet:684 Orphanet:98738 neurological muscular channelopathy due to a genetic sodium channel defect -MONDO:0008199 late-onset Parkinson disease MONDO:0015914 Orphanet:411602 Orphanet:182058 primary orthostatic hypotension -MONDO:0008199 late-onset Parkinson disease MONDO:0021272 Orphanet:411602 Orphanet:448426 inherited orthostatic hypotension -MONDO:0008209 Char syndrome MONDO:0015159 Orphanet:46627 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0008222 Andersen-Tawil syndrome MONDO:0957114 Orphanet:37553 Orphanet:98741 neurological muscular channelopathy due to a genetic potassium channel defect -MONDO:0008223 hypokalemic periodic paralysis MONDO:0957111 Orphanet:681 Orphanet:98738 neurological muscular channelopathy due to a genetic sodium channel defect -MONDO:0008223 hypokalemic periodic paralysis MONDO:0957113 Orphanet:681 Orphanet:98740 neurological muscular channelopathy due to a genetic calcium channel defect -MONDO:0008223 hypokalemic periodic paralysis MONDO:0957114 Orphanet:681 Orphanet:98741 neurological muscular channelopathy due to a genetic potassium channel defect -MONDO:0008224 hyperkalemic periodic paralysis MONDO:0957111 Orphanet:682 Orphanet:98738 neurological muscular channelopathy due to a genetic sodium channel defect -MONDO:0008234 multiple endocrine neoplasia type 2A MONDO:0021227 Orphanet:247698 Orphanet:100091 adrenal gland neoplasm -MONDO:0008246 pigmented paravenous retinochoroidal atrophy MONDO:0957337 Orphanet:251295 Orphanet:519300 isolated chorioretinal dystrophy -MONDO:0008260 Kindler syndrome MONDO:0015951 Orphanet:2908 Orphanet:183490 hereditary photodermatosis -MONDO:0008264 autosomal dominant medullary cystic kidney disease with or without hyperuricemia MONDO:0015962 Orphanet:34149 Orphanet:183592 inherited renal tubular disease -MONDO:0008267 orofaciodigital syndrome V MONDO:0015159 Orphanet:2919 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0008280 Peutz-Jeghers syndrome MONDO:0019289 Orphanet:2869 Orphanet:79375 hyperpigmentation of the skin -MONDO:0008287 Greig cephalopolysyndactyly syndrome MONDO:0005308 Orphanet:380 Orphanet:363250 ciliopathy -MONDO:0008287 Greig cephalopolysyndactyly syndrome MONDO:0015159 Orphanet:380 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0008300 Prader-Willi syndrome MONDO:0015159 Orphanet:739 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0008311 progeria-short stature-pigmented nevi syndrome MONDO:0015333 Orphanet:2959 Orphanet:139033 progeroid syndrome -MONDO:0008311 progeria-short stature-pigmented nevi syndrome MONDO:0019303 Orphanet:2959 Orphanet:79389 premature aging syndrome -MONDO:0008394 Silver-Russell syndrome MONDO:0015159 Orphanet:813 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0008395 Ruvalcaba syndrome MONDO:0015159 Orphanet:3121 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0008409 congenital myopathy 7A, myosin storage, autosomal dominant MONDO:0018889 Orphanet:636965 Orphanet:53698 hyaline body myopathy -MONDO:0008411 ulnar-mammary syndrome MONDO:0015159 Orphanet:3138 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0008429 Singleton-Merten dysplasia MONDO:0957408 Orphanet:85191 Orphanet:481671 type 1 interferonopathy of childhood -MONDO:0008434 Smith-Magenis syndrome MONDO:0022754 Orphanet:819 Orphanet:261965 chromosome 17p deletion -MONDO:0008485 sebocystomatosis MONDO:0021029 Orphanet:841 Orphanet:183460 hereditary sebaceous gland anomaly -MONDO:0008486 steatocystoma multiplex-natal teeth syndrome MONDO:0021029 Orphanet:3184 Orphanet:183460 hereditary sebaceous gland anomaly -MONDO:0008499 short stature-wormian bones-dextrocardia syndrome MONDO:0015159 Orphanet:2863 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0008501 Sturge-Weber syndrome MONDO:0019293 Orphanet:3205 Orphanet:79379 skin vascular disease -MONDO:0008501 Sturge-Weber syndrome MONDO:0019716 Orphanet:3205 Orphanet:93460 overgrowth syndrome -MONDO:0008523 Blau syndrome MONDO:0021154 Orphanet:90340 Orphanet:79381 dermis disorder -MONDO:0008523 Blau syndrome MONDO:0957405 Orphanet:90340 Orphanet:324950 granulomatous autoinflammatory syndrome of childhood -MONDO:0008562 thumb deformity-alopecia-pigmentation anomaly syndrome MONDO:0019287 Orphanet:2251 Orphanet:79373 ectodermal dysplasia syndrome -MONDO:0008563 thumb stiffness-brachydactyly-intellectual disability syndrome MONDO:0015159 Orphanet:1078 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0008608 Down syndrome MONDO:0015159 Orphanet:870 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0008642 VACTERL/vater association MONDO:0015161 Orphanet:887 Orphanet:102285 multiple congenital anomalies/dysmorphic syndrome without intellectual disability -MONDO:0008662 autosomal dominant vitreoretinochoroidopathy MONDO:0850009 Orphanet:3086 Orphanet:519294 syndromic microspherophakia -MONDO:0008667 von Hippel-Lindau disease MONDO:0015079 Orphanet:892 Orphanet:100094 multiple polyglandular tumor -MONDO:0008667 von Hippel-Lindau disease MONDO:0019741 Orphanet:892 Orphanet:93587 familial cystic renal disease -MONDO:0008667 von Hippel-Lindau disease MONDO:0021227 Orphanet:892 Orphanet:100091 adrenal gland neoplasm -MONDO:0008670 Waardenburg syndrome type 1 MONDO:0008537 Orphanet:894 Orphanet:98575 telecanthus -MONDO:0008675 Freeman-Sheldon syndrome MONDO:0957111 Orphanet:2053 Orphanet:98738 neurological muscular channelopathy due to a genetic sodium channel defect -MONDO:0008678 Williams syndrome MONDO:0015159 Orphanet:904 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0008678 Williams syndrome MONDO:0015338 Orphanet:904 Orphanet:139393 syndromic craniosynostosis -MONDO:0008681 WAGR syndrome MONDO:0015159 Orphanet:893 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0008693 ablepharon macrostomia syndrome MONDO:0015159 Orphanet:920 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0008694 pseudoprogeria syndrome MONDO:0015333 Orphanet:2985 Orphanet:139033 progeroid syndrome -MONDO:0008708 acrocallosal syndrome MONDO:0015338 Orphanet:36 Orphanet:139393 syndromic craniosynostosis -MONDO:0008711 Goodman syndrome MONDO:0015161 Orphanet:65798 Orphanet:102285 multiple congenital anomalies/dysmorphic syndrome without intellectual disability -MONDO:0008723 very long chain acyl-CoA dehydrogenase deficiency MONDO:0017714 Orphanet:26793 Orphanet:309120 acyl-CoA dehydrogenase deficiency -MONDO:0008726 Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis MONDO:0018479 Orphanet:63269 Orphanet:418 congenital adrenal hyperplasia -MONDO:0008730 congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency MONDO:0019852 Orphanet:90793 Orphanet:95710 inherited primary ovarian failure -MONDO:0008754 alopecia - contractures - dwarfism - intellectual disability syndrome MONDO:0015159 Orphanet:1005 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0008756 alopecia - intellectual disability syndrome MONDO:0004907 Orphanet:2850 Orphanet:79364 alopecia -MONDO:0008763 Alstrom syndrome MONDO:0015962 Orphanet:64 Orphanet:183592 inherited renal tubular disease -MONDO:0008763 Alstrom syndrome MONDO:0015967 Orphanet:64 Orphanet:183625 monogenic diabetes -MONDO:0008763 Alstrom syndrome MONDO:0022410 Orphanet:64 Orphanet:156165 retinal ciliopathy -MONDO:0008766 amaurosis-hypertrichosis syndrome MONDO:0019280 Orphanet:1021 Orphanet:79365 hypertrichosis -MONDO:0008799 anophthalmia/microphthalmia-esophageal atresia syndrome MONDO:0015159 Orphanet:77298 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0008800 microphthalmia with limb anomalies MONDO:0015159 Orphanet:1106 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0008800 microphthalmia with limb anomalies MONDO:0016073 Orphanet:1106 Orphanet:202948 syndromic microphthalmia -MONDO:0008803 Antley-Bixler syndrome MONDO:0015159 Orphanet:83 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0008809 polyneuropathy-hand defect syndrome MONDO:0015626 Orphanet:2926 Orphanet:166 Charcot-Marie-Tooth disease -MONDO:0008812 AREDYLD syndrome MONDO:0015967 Orphanet:1133 Orphanet:183625 monogenic diabetes -MONDO:0008840 ataxia telangiectasia MONDO:0019293 Orphanet:100 Orphanet:79379 skin vascular disease -MONDO:0008842 ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia MONDO:0018151 Orphanet:1168 Orphanet:35656 coenzyme Q10 deficiency -MONDO:0008843 atherosclerosis-deafness-diabetes-epilepsy-nephropathy syndrome MONDO:0015650 Orphanet:1192 Orphanet:166463 epilepsy syndrome -MONDO:0008850 Cooper-Jabs syndrome MONDO:0015159 Orphanet:1488 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0008855 MHC class II deficiency MONDO:0018814 Orphanet:572 Orphanet:480549 non-SCID combined immunodeficiency -MONDO:0008855 MHC class II deficiency MONDO:0019787 Orphanet:572 Orphanet:94075 autoimmune enteropathy -MONDO:0008865 Bietti crystalline corneoretinal dystrophy MONDO:0957337 Orphanet:41751 Orphanet:519300 isolated chorioretinal dystrophy -MONDO:0008896 campomelia, Cumming type MONDO:0015159 Orphanet:1318 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability +ID AI obo:mondo#excluded_subClassOf >A oboInOwl:source MONDO:0008905 predisposition to invasive fungal disease due to CARD9 deficiency MONDO:0000001 Orphanet:457088 Orphanet:377788 disease -MONDO:0008926 COFS syndrome MONDO:0016006 Orphanet:1466 Orphanet:191 Cockayne syndrome -MONDO:0008935 cerebellar ataxia-hypogonadism syndrome MONDO:0100309 Orphanet:1173 Orphanet:183518 hereditary ataxia -MONDO:0008941 hepatic fibrosis-renal cysts-intellectual disability syndrome MONDO:0015159 Orphanet:2031 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0008941 hepatic fibrosis-renal cysts-intellectual disability syndrome MONDO:0019741 Orphanet:2031 Orphanet:93587 familial cystic renal disease -MONDO:0008959 CHAND syndrome MONDO:0019287 Orphanet:1401 Orphanet:79373 ectodermal dysplasia syndrome -MONDO:0008963 Chediak-Higashi syndrome MONDO:0015978 Orphanet:167 Orphanet:183681 functional neutrophil defect -MONDO:0008965 CHARGE syndrome MONDO:0015159 Orphanet:138 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0008975 otospondylomegaepiphyseal dysplasia MONDO:0022800 Orphanet:1427 Orphanet:93421 type 2 collagenopathy -MONDO:0008977 chondrosarcoma MONDO:0021054 Orphanet:55880 Orphanet:223727 bone sarcoma -MONDO:0008982 central areolar choroidal dystrophy MONDO:0957048 Orphanet:75377 Orphanet:519302 isolated macular dystrophy -MONDO:0008982 central areolar choroidal dystrophy MONDO:0957337 Orphanet:75377 Orphanet:519300 isolated chorioretinal dystrophy -MONDO:0008995 Yunis-Varon syndrome MONDO:0015159 Orphanet:3472 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0009021 Toriello-Carey syndrome MONDO:0015159 Orphanet:3338 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0009028 Crane-Heise syndrome MONDO:0015159 Orphanet:1512 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0009032 cranioectodermal dysplasia MONDO:0019741 Orphanet:1515 Orphanet:93587 familial cystic renal disease -MONDO:0009034 craniofacial dyssynostosis MONDO:0850077 Orphanet:1516 Orphanet:620152 non-syndromic multisutural craniosynostosis -MONDO:0009045 cataract-nephropathy-encephalopathy syndrome MONDO:0015962 Orphanet:1380 Orphanet:183592 inherited renal tubular disease -MONDO:0009046 Fraser syndrome MONDO:0015159 Orphanet:2052 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0009054 autosomal recessive cutis laxa type 2, classic type MONDO:0018163 Orphanet:357074 Orphanet:357058 autosomal recessive cutis laxa type 2A -MONDO:0009063 ventriculomegaly-cystic kidney disease MONDO:0019741 Orphanet:443988 Orphanet:93587 familial cystic renal disease -MONDO:0009069 congenital lactic acidosis, Saguenay-Lac-Saint-Jean type MONDO:0020257 Orphanet:70472 Orphanet:98687 supranuclear oculomotor palsy -MONDO:0009070 D-glyceric aciduria MONDO:0017703 Orphanet:941 Orphanet:308998 disorder of glyoxylate metabolism -MONDO:0009104 Donnai-Barrow syndrome MONDO:0015159 Orphanet:2143 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0009105 trichohepatoenteric syndrome MONDO:0957408 Orphanet:84064 Orphanet:481671 type 1 interferonopathy of childhood -MONDO:0009124 Dubowitz syndrome MONDO:0015338 Orphanet:235 Orphanet:139393 syndromic craniosynostosis -MONDO:0009130 Dyggve-Melchior-Clausen disease MONDO:0015159 Orphanet:239 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0009131 Riley-Day syndrome MONDO:0015914 Orphanet:1764 Orphanet:182058 primary orthostatic hypotension -MONDO:0009131 Riley-Day syndrome MONDO:0021154 Orphanet:1764 Orphanet:79381 dermis disorder -MONDO:0009131 Riley-Day syndrome MONDO:0021272 Orphanet:1764 Orphanet:448426 inherited orthostatic hypotension -MONDO:0009149 ectodermal dysplasia-intellectual disability-central nervous system malformation syndrome MONDO:0015159 Orphanet:1812 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0009162 Ellis-van Creveld syndrome MONDO:0019741 Orphanet:289 Orphanet:93587 familial cystic renal disease -MONDO:0009162 Ellis-van Creveld syndrome MONDO:0022410 Orphanet:289 Orphanet:156165 retinal ciliopathy -MONDO:0009169 endocardial fibroelastosis MONDO:0016338 Orphanet:2022 Orphanet:217629 non-familial dilated cardiomyopathy -MONDO:0009169 endocardial fibroelastosis MONDO:0016345 Orphanet:2022 Orphanet:217720 non-familial restrictive cardiomyopathy -MONDO:0009174 protein-losing enteropathy MONDO:0018178 Orphanet:566175 Orphanet:36204 intestinal lymphangiectasia -MONDO:0009176 epidermodysplasia verruciformis MONDO:0015356 Orphanet:302 Orphanet:140162 hereditary neoplastic syndrome -MONDO:0009188 epilepsy-telangiectasia syndrome MONDO:0015650 Orphanet:1951 Orphanet:166463 epilepsy syndrome -MONDO:0009192 Wolcott-Rallison syndrome MONDO:0015159 Orphanet:1667 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0009192 Wolcott-Rallison syndrome MONDO:0015967 Orphanet:1667 Orphanet:183625 monogenic diabetes -MONDO:0009204 lethal faciocardiomelic dysplasia MONDO:0043009 Orphanet:1972 Orphanet:471383 hereditary lethal multiple congenital anomalies/dysmorphic syndrome -MONDO:0009216 glycogen storage disease due to GLUT2 deficiency MONDO:0019226 Orphanet:2088 Orphanet:79178 glucose transport disorder -MONDO:0009218 Farber lipogranulomatosis MONDO:0019296 Orphanet:333 Orphanet:79382 subcutaneous tissue disorder -MONDO:0009239 hypogonadotropic hypogonadism 24 without anosmia MONDO:0015770 Orphanet:52901 Orphanet:174590 congenital hypogonadotropic hypogonadism -MONDO:0009249 hereditary fructose intolerance MONDO:0017706 Orphanet:469 Orphanet:309001 disorder of carbohydrate transmembrane transport and absorption -MONDO:0009251 fructose-1,6-bisphosphatase deficiency MONDO:0017689 Orphanet:348 Orphanet:308463 disorder of fructose metabolism -MONDO:0009266 Gaucher disease type II MONDO:0020143 Orphanet:77260 Orphanet:98544 cerebral lipidosis with dementia -MONDO:0009267 Gaucher disease type III MONDO:0020143 Orphanet:77261 Orphanet:98544 cerebral lipidosis with dementia -MONDO:0009272 German syndrome MONDO:0015225 Orphanet:2077 Orphanet:109007 arthrogryposis syndrome -MONDO:0009272 German syndrome MONDO:0043009 Orphanet:2077 Orphanet:471383 hereditary lethal multiple congenital anomalies/dysmorphic syndrome -MONDO:0009292 glycogen storage disease due to glycogen branching enzyme deficiency MONDO:0016333 Orphanet:367 Orphanet:217607 familial dilated cardiomyopathy -MONDO:0009306 combined immunodeficiency with skin granulomas MONDO:0018814 Orphanet:157949 Orphanet:480549 non-SCID combined immunodeficiency -MONDO:0009313 Grubben-de Cock-Borghgraef syndrome MONDO:0015159 Orphanet:2101 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0009318 Hallermann-Streiff syndrome MONDO:0015159 Orphanet:2108 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0009318 Hallermann-Streiff syndrome MONDO:0019287 Orphanet:2108 Orphanet:79373 ectodermal dysplasia syndrome -MONDO:0009324 Hartnup disease MONDO:0015951 Orphanet:2116 Orphanet:183490 hereditary photodermatosis -MONDO:0009324 Hartnup disease MONDO:0017687 Orphanet:2116 Orphanet:308451 disorder of neutral amino acid transport -MONDO:0009329 pulmonary venoocclusive disease 2 MONDO:0018554 Orphanet:199241 Orphanet:431353 pulmonary veno-occlusive disease and/or pulmonary capillary haemangiomatosis -MONDO:0009331 isolated hemihyperplasia MONDO:0015496 Orphanet:2128 Orphanet:156207 macroglossia -MONDO:0009333 mullerian derivatives-lymphangiectasia-polydactyly syndrome MONDO:0015161 Orphanet:1655 Orphanet:102285 multiple congenital anomalies/dysmorphic syndrome without intellectual disability -MONDO:0009373 seizures-intellectual disability due to hydroxylysinuria syndrome MONDO:0015159 Orphanet:79156 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0009406 hypertrichotic osteochondrodysplasia Cantu type MONDO:0015159 Orphanet:1517 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0009411 autoimmune polyendocrine syndrome type 1 MONDO:0019851 Orphanet:3453 Orphanet:95709 acquired primary ovarian failure -MONDO:0009419 Woodhouse-Sakati syndrome MONDO:0015967 Orphanet:3464 Orphanet:183625 monogenic diabetes -MONDO:0009425 hypomandibular faciocranial dysostosis MONDO:0015159 Orphanet:1790 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0009446 ichthyosis-intellectual disability-dwarfism-renal impairment syndrome MONDO:0015159 Orphanet:2278 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0009448 iminoglycinuria MONDO:0017687 Orphanet:42062 Orphanet:308451 disorder of neutral amino acid transport -MONDO:0009452 Vici syndrome MONDO:0015159 Orphanet:1493 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0009452 Vici syndrome MONDO:0019290 Orphanet:1493 Orphanet:79376 hypopigmentation of the skin -MONDO:0009473 isotretinoin-like syndrome MONDO:0015159 Orphanet:2306 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0009477 Stromme syndrome MONDO:0022410 Orphanet:506307 Orphanet:156165 retinal ciliopathy -MONDO:0009477 Stromme syndrome MONDO:0850008 Orphanet:506307 Orphanet:519276 anterior segment developmental abnormality with extraocular manifestations -MONDO:0009478 combined immunodeficiency due to DOCK8 deficiency MONDO:0018814 Orphanet:217390 Orphanet:480549 non-SCID combined immunodeficiency -MONDO:0009479 Johanson-Blizzard syndrome MONDO:0019287 Orphanet:2315 Orphanet:79373 ectodermal dysplasia syndrome -MONDO:0009480 Joubert syndrome with oculorenal defect MONDO:0015159 Orphanet:2318 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0009480 Joubert syndrome with oculorenal defect MONDO:0019741 Orphanet:2318 Orphanet:93587 familial cystic renal disease -MONDO:0009485 oculocerebrofacial syndrome, Kaufman type MONDO:0008537 Orphanet:2707 Orphanet:98575 telecanthus -MONDO:0009493 Richards-Rundle syndrome MONDO:0015159 Orphanet:1399 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0009517 Donohue syndrome MONDO:0015333 Orphanet:508 Orphanet:139033 progeroid syndrome -MONDO:0009517 Donohue syndrome MONDO:0019280 Orphanet:508 Orphanet:79365 hypertrichosis -MONDO:0009522 Leukomelanoderma-infantilism-intellectual disability-hypodontia-hypotrichosis syndrome MONDO:0015159 Orphanet:1816 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0009525 split hand-foot malformation 3 MONDO:0015159 Orphanet:1307 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0009547 macrosomia-microphthalmia-cleft palate syndrome MONDO:0016073 Orphanet:2432 Orphanet:202948 syndromic microphthalmia -MONDO:0009547 macrosomia-microphthalmia-cleft palate syndrome MONDO:0043009 Orphanet:2432 Orphanet:471383 hereditary lethal multiple congenital anomalies/dysmorphic syndrome -MONDO:0009560 oculotrichoanal syndrome MONDO:0015161 Orphanet:2717 Orphanet:102285 multiple congenital anomalies/dysmorphic syndrome without intellectual disability -MONDO:0009569 Hennekam-Beemer syndrome MONDO:0015159 Orphanet:2135 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0009575 thiamine-responsive megaloblastic anemia syndrome MONDO:0015967 Orphanet:49827 Orphanet:183625 monogenic diabetes -MONDO:0009575 thiamine-responsive megaloblastic anemia syndrome MONDO:0020099 Orphanet:49827 Orphanet:98362 inherited sideroblastic anemia -MONDO:0009577 megalocornea-intellectual disability syndrome MONDO:0015159 Orphanet:2479 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0009579 Frank-Ter Haar syndrome MONDO:0018233 Orphanet:137834 Orphanet:364541 otopalatodigital syndrome spectrum disorder -MONDO:0009581 intellectual disability-dysmorphism-hypogonadism-diabetes mellitus syndrome MONDO:0015967 Orphanet:3044 Orphanet:183625 monogenic diabetes -MONDO:0009582 Mietens syndrome MONDO:0015159 Orphanet:2557 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0009585 encephalopathy due to beta-mercaptolactate-cysteine disulfiduria MONDO:0019222 Orphanet:1035 Orphanet:79173 inborn disorder of methionine cycle and sulfur amino acid metabolism -MONDO:0009592 metaphyseal acroscyphodysplasia MONDO:0015159 Orphanet:1240 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0009598 metaphyseal chondrodysplasia-retinitis pigmentosa syndrome MONDO:0015159 Orphanet:166035 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0009599 metaphyseal dysostosis-intellectual disability-conductive deafness syndrome MONDO:0015159 Orphanet:2502 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0009619 microcephaly-micromelia syndrome MONDO:0035534 Orphanet:572768 Orphanet:572761 DONSON-related microcephaly-short stature-limb abnormalities spectrum -MONDO:0009623 Nijmegen breakage syndrome MONDO:0015159 Orphanet:647 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0009624 microcephaly and chorioretinopathy 1 MONDO:0015159 Orphanet:2518 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0009626 pseudo-TORCH syndrome MONDO:0015159 Orphanet:1229 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0009627 Galloway-Mowat syndrome MONDO:0015159 Orphanet:2065 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0009637 inborn mitochondrial myopathy MONDO:0020123 Orphanet:206966 Orphanet:98486 metabolic myopathy -MONDO:0009642 orofaciodigital syndrome type II MONDO:0015159 Orphanet:2751 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0009648 peripheral motor neuropathy-dysautonomia syndrome MONDO:0021272 Orphanet:2400 Orphanet:448426 inherited orthostatic hypotension -MONDO:0009650 mucolipidosis type II MONDO:0015159 Orphanet:576 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0009652 GNPTG-mucolipidosis MONDO:0018931 Orphanet:423470 Orphanet:577 mucolipidosis type III, alpha/beta -MONDO:0009668 lethal multiple pterygium syndrome MONDO:0043009 Orphanet:33108 Orphanet:471383 hereditary lethal multiple congenital anomalies/dysmorphic syndrome -MONDO:0009685 Miyoshi myopathy MONDO:0016145 Orphanet:45448 Orphanet:207073 qualitative or quantitative defects of dysferlin -MONDO:0009708 myopathy, myosin storage, autosomal recessive MONDO:0018889 Orphanet:636970 Orphanet:53698 hyaline body myopathy -MONDO:0009710 Thomsen and Becker disease MONDO:0957112 Orphanet:614 Orphanet:98739 neurological muscular channelopathy due to a genetic chloride channel defect -MONDO:0009711 congenital fiber-type disproportion myopathy MONDO:0016193 Orphanet:2020 Orphanet:209059 qualitative or quantitative defects of alpha-actin -MONDO:0009711 congenital fiber-type disproportion myopathy MONDO:0016197 Orphanet:2020 Orphanet:209193 qualitative or quantitative defects of selenoprotein N1 -MONDO:0009712 congenital multicore myopathy with external ophthalmoplegia MONDO:0957115 Orphanet:98905 Orphanet:98742 neurological muscular channelopathy due to a genetic ryanodine receptor defect -MONDO:0009716 Richieri Costa-da Silva syndrome MONDO:0015159 Orphanet:3101 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0009717 Schwartz-Jampel syndrome MONDO:0016106 Orphanet:800 Orphanet:206644 progressive muscular dystrophy -MONDO:0009720 Keipert syndrome MONDO:0015159 Orphanet:2662 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0009723 Leigh syndrome MONDO:0020257 Orphanet:506 Orphanet:98687 supranuclear oculomotor palsy -MONDO:0009726 proteosome-associated autoinflammatory syndrome MONDO:0020087 Orphanet:324977 Orphanet:98305 hereditary lipodystrophy -MONDO:0009726 proteosome-associated autoinflammatory syndrome MONDO:0957408 Orphanet:324977 Orphanet:481671 type 1 interferonopathy of childhood -MONDO:0009727 atelosteogenesis type II MONDO:0015159 Orphanet:56304 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0009738 sialidosis type 2 MONDO:0015159 Orphanet:87876 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0009742 neuroectodermal melanolysosomal disease MONDO:0019289 Orphanet:33445 Orphanet:79375 hyperpigmentation of the skin -MONDO:0009742 neuroectodermal melanolysosomal disease MONDO:0019716 Orphanet:33445 Orphanet:93460 overgrowth syndrome -MONDO:0009744 neuronal ceroid lipofuscinosis 1 MONDO:0015674 Orphanet:228329 Orphanet:168491 late infantile neuronal ceroid lipofuscinosis -MONDO:0009744 neuronal ceroid lipofuscinosis 1 MONDO:0019260 Orphanet:228329 Orphanet:79262 adult neuronal ceroid lipofuscinosis -MONDO:0009744 neuronal ceroid lipofuscinosis 1 MONDO:0019261 Orphanet:228329 Orphanet:79263 infantile neuronal ceroid lipofuscinosis -MONDO:0009744 neuronal ceroid lipofuscinosis 1 MONDO:0019262 Orphanet:228329 Orphanet:79264 juvenile neuronal ceroid lipofuscinosis -MONDO:0009766 oculocerebral hypopigmentation syndrome of Preus MONDO:0015159 Orphanet:2720 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0009766 oculocerebral hypopigmentation syndrome of Preus MONDO:0017305 Orphanet:2720 Orphanet:284811 syndromic oculocutaneous albinism -MONDO:0009767 oculocerebral hypopigmentation syndrome, Cross type MONDO:0015159 Orphanet:2719 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0009772 oculorenocerebellar syndrome MONDO:0015159 Orphanet:2715 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0009793 orofaciodigital syndrome III MONDO:0015159 Orphanet:2752 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0009794 orofaciodigital syndrome IV MONDO:0015159 Orphanet:2753 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0009798 Primrose syndrome MONDO:0015159 Orphanet:3042 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0009810 autosomal recessive distal osteolysis syndrome MONDO:0015159 Orphanet:2776 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0009813 chronic recurrent multifocal osteomyelitis MONDO:0957404 Orphanet:324964 Orphanet:324942 pyogenic autoinflammatory syndrome of childhood -MONDO:0009814 osteopenia-intellectual disability-sparse hair syndrome MONDO:0015159 Orphanet:2324 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0009820 osteoporosis-pseudoglioma syndrome MONDO:0015159 Orphanet:2788 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0009833 Shwachman-Diamond syndrome MONDO:0001713 Orphanet:811 Orphanet:68383 inherited aplastic anemia -MONDO:0009833 Shwachman-Diamond syndrome MONDO:0015159 Orphanet:811 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0009833 Shwachman-Diamond syndrome MONDO:0015978 Orphanet:811 Orphanet:183681 functional neutrophil defect -MONDO:0009841 PEHO syndrome MONDO:0015650 Orphanet:2836 Orphanet:166463 epilepsy syndrome -MONDO:0009856 Peters plus syndrome MONDO:0850008 Orphanet:709 Orphanet:519276 anterior segment developmental abnormality with extraocular manifestations -MONDO:0009925 autosomal recessive inherited pseudoxanthoma elasticum MONDO:0016340 Orphanet:758 Orphanet:217635 familial restrictive cardiomyopathy -MONDO:0009937 pulmonary venoocclusive disease MONDO:0018554 Orphanet:31837 Orphanet:431353 pulmonary veno-occlusive disease and/or pulmonary capillary haemangiomatosis -MONDO:0009940 pycnodysostosis MONDO:0015338 Orphanet:763 Orphanet:139393 syndromic craniosynostosis -MONDO:0009952 radioulnar synostosis-developmental delay-hypotonia syndrome MONDO:0015338 Orphanet:3270 Orphanet:139393 syndromic craniosynostosis -MONDO:0009954 Ramon syndrome MONDO:0015159 Orphanet:3019 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0009958 adult Refsum disease MONDO:0019046 Orphanet:773 Orphanet:68356 leukodystrophy -MONDO:0009958 adult Refsum disease MONDO:0020044 Orphanet:773 Orphanet:98096 autosomal recessive metabolic cerebellar ataxia -MONDO:0009964 short-rib thoracic dysplasia 9 with or without polydactyly MONDO:0019741 Orphanet:140969 Orphanet:93587 familial cystic renal disease -MONDO:0009983 retinitis pigmentosa-intellectual disability-deafness-hypogenitalism syndrome MONDO:0015159 Orphanet:3085 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0009983 retinitis pigmentosa-intellectual disability-deafness-hypogenitalism syndrome MONDO:0022410 Orphanet:3085 Orphanet:156165 retinal ciliopathy -MONDO:0009990 Revesz syndrome MONDO:0001713 Orphanet:3088 Orphanet:68383 inherited aplastic anemia -MONDO:0009998 Richieri Costa-Pereira syndrome MONDO:0018237 Orphanet:3102 Orphanet:364574 acrofacial dysostosis -MONDO:0010001 ectodermal dysplasia-blindness syndrome MONDO:0016073 Orphanet:1806 Orphanet:202948 syndromic microphthalmia -MONDO:0010002 Rothmund-Thomson syndrome MONDO:0015333 Orphanet:2909 Orphanet:139033 progeroid syndrome -MONDO:0010002 Rothmund-Thomson syndrome MONDO:0016382 Orphanet:2909 Orphanet:222628 hereditary poikiloderma -MONDO:0010010 Schinzel-Giedion syndrome MONDO:0015159 Orphanet:798 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0010012 autoimmune polyendocrinopathy type 2 MONDO:0019851 Orphanet:3143 Orphanet:95709 acquired primary ovarian failure -MONDO:0010023 combined immunodeficiency due to ZAP70 deficiency MONDO:0018814 Orphanet:911 Orphanet:480549 non-SCID combined immunodeficiency -MONDO:0010026 SHORT syndrome MONDO:0015159 Orphanet:3163 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0010026 SHORT syndrome MONDO:0015333 Orphanet:3163 Orphanet:139033 progeroid syndrome -MONDO:0010026 SHORT syndrome MONDO:0850008 Orphanet:3163 Orphanet:519276 anterior segment developmental abnormality with extraocular manifestations -MONDO:0010061 autosomal recessive cerebellar ataxia-blindness-deafness syndrome MONDO:0019053 Orphanet:95433 Orphanet:68373 peroxisomal disease -MONDO:0010061 autosomal recessive cerebellar ataxia-blindness-deafness syndrome MONDO:0020044 Orphanet:95433 Orphanet:98096 autosomal recessive metabolic cerebellar ataxia -MONDO:0010063 corneal-cerebellar syndrome MONDO:0015159 Orphanet:3177 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0010063 corneal-cerebellar syndrome MONDO:0100309 Orphanet:3177 Orphanet:183518 hereditary ataxia -MONDO:0010073 spondyloepiphyseal dysplasia tarda, Kohn type MONDO:0015159 Orphanet:163665 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0010082 subaortic stenosis-short stature syndrome MONDO:0015161 Orphanet:3191 Orphanet:102285 multiple congenital anomalies/dysmorphic syndrome without intellectual disability -MONDO:0010115 thoracic dysplasia-hydrocephalus syndrome MONDO:0019691 Orphanet:1861 Orphanet:93426 short rib dysplasia -MONDO:0010152 trichomegaly-retina pigmentary degeneration-dwarfism syndrome MONDO:0015159 Orphanet:3363 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0010165 ulna hypoplasia-intellectual disability syndrome MONDO:0015159 Orphanet:2249 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0010172 VACTERL with hydrocephalus MONDO:0015159 Orphanet:3412 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0010176 orofaciodigital syndrome type 6 MONDO:0015159 Orphanet:2754 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0010176 orofaciodigital syndrome type 6 MONDO:0015369 Orphanet:2754 Orphanet:140874 Joubert syndrome and related disorders -MONDO:0010184 methylmalonic aciduria and homocystinuria type cblC MONDO:0001549 Orphanet:79282 Orphanet:544458 hemolytic-uremic syndrome -MONDO:0010184 methylmalonic aciduria and homocystinuria type cblC MONDO:0957097 Orphanet:79282 Orphanet:576742 hereditary hemolytic uremic syndrome -MONDO:0010196 Werner syndrome MONDO:0016382 Orphanet:902 Orphanet:222628 hereditary poikiloderma -MONDO:0010200 Wilson disease MONDO:0020257 Orphanet:905 Orphanet:98687 supranuclear oculomotor palsy -MONDO:0010214 xeroderma pigmentosum variant type MONDO:0015333 Orphanet:90342 Orphanet:139033 progeroid syndrome -MONDO:0010258 MEHMO syndrome MONDO:0015159 Orphanet:85282 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0010261 microphthalmia, syndromic 2 MONDO:0015159 Orphanet:2712 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0010263 Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome MONDO:0015159 Orphanet:86818 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0010263 Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome MONDO:0017007 Orphanet:86818 Orphanet:263756 partial deletion of the long arm of chromosome X -MONDO:0010275 spondyloepimetaphyseal dysplasia, Bieganski type MONDO:0019046 Orphanet:83629 Orphanet:68356 leukodystrophy -MONDO:0010275 spondyloepimetaphyseal dysplasia, Bieganski type MONDO:0024237 Orphanet:83629 Orphanet:183500 inherited neurodegenerative disorder -MONDO:0010278 Christianson syndrome MONDO:0015159 Orphanet:85278 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0010278 Christianson syndrome MONDO:0016612 Orphanet:85278 Orphanet:247765 X-linked cerebellar ataxia -MONDO:0010279 terminal osseous dysplasia-pigmentary defects syndrome MONDO:0019289 Orphanet:88630 Orphanet:79375 hyperpigmentation of the skin -MONDO:0010281 Danon disease MONDO:0016333 Orphanet:34587 Orphanet:217607 familial dilated cardiomyopathy -MONDO:0010284 Armfield syndrome MONDO:0015159 Orphanet:85276 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0010311 Becker muscular dystrophy MONDO:0016147 Orphanet:98895 Orphanet:207085 qualitative or quantitative defects of dystrophin -MONDO:0010323 Atkin-Flaitz syndrome MONDO:0015159 Orphanet:1193 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0010325 X-linked intellectual disability, Stocco dos Santos type MONDO:0015159 Orphanet:85288 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0010333 corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome MONDO:0015159 Orphanet:52055 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0010333 corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome MONDO:0850008 Orphanet:52055 Orphanet:519276 anterior segment developmental abnormality with extraocular manifestations -MONDO:0010334 severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome MONDO:0015159 Orphanet:369939 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0010337 X-linked intellectual disability-cerebellar hypoplasia syndrome MONDO:0015159 Orphanet:137831 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0010353 deafness-intellectual disability, Martin-Probst type syndrome MONDO:0015159 Orphanet:85321 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0010355 syndromic X-linked intellectual disability Claes-Jensen type MONDO:0015653 Orphanet:85279 Orphanet:166472 monogenic epilepsy -MONDO:0010383 fragile X syndrome MONDO:0015159 Orphanet:908 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0010409 syndromic X-linked intellectual disability Shrimpton type MONDO:0015159 Orphanet:85324 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0010412 X-linked intellectual disability-craniofacioskeletal syndrome MONDO:0015159 Orphanet:163979 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0010417 syndromic X-linked intellectual disability Najm type MONDO:0015159 Orphanet:163937 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0010441 CK syndrome MONDO:0019240 Orphanet:251383 Orphanet:79195 sterol biosynthesis disorder -MONDO:0010448 moyamoya angiopathy-short stature-facial dysmorphism-hypergonadotropic hypogonadism syndrome MONDO:0015159 Orphanet:280679 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0010455 X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia MONDO:0018814 Orphanet:317476 Orphanet:480549 non-SCID combined immunodeficiency -MONDO:0010457 Ogden syndrome MONDO:0015159 Orphanet:276432 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0010461 syndromic X-linked intellectual disability Nascimento type MONDO:0015159 Orphanet:163956 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0010463 X-linked dominant chondrodysplasia, Chassaing-Lacombe type MONDO:0015159 Orphanet:163966 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0010464 X-linked cerebral-cerebellar-coloboma syndrome syndrome MONDO:0015159 Orphanet:163961 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0010498 MEND syndrome MONDO:0015159 Orphanet:401973 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0010507 Xq25 microduplication syndrome MONDO:0015159 Orphanet:521258 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0010514 combined immunodeficiency due to moesin deficiency MONDO:0018814 Orphanet:504530 Orphanet:480549 non-SCID combined immunodeficiency -MONDO:0010519 alpha thalassemia-X-linked intellectual disability syndrome MONDO:0015159 Orphanet:847 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0010523 X-linked reticulate pigmentary disorder MONDO:0957408 Orphanet:85453 Orphanet:481671 type 1 interferonopathy of childhood -MONDO:0010526 Fabry disease MONDO:0019293 Orphanet:324 Orphanet:79379 skin vascular disease -MONDO:0010529 X-linked spinocerebellar ataxia type 3 MONDO:0015159 Orphanet:85297 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0010531 contractures-ectodermal dysplasia-cleft lip/palate syndrome MONDO:0015159 Orphanet:1484 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0010533 Arts syndrome MONDO:0016612 Orphanet:1187 Orphanet:247765 X-linked cerebellar ataxia -MONDO:0010533 Arts syndrome MONDO:0019236 Orphanet:1187 Orphanet:79191 inborn disorder of purine metabolism -MONDO:0010534 X-linked spinocerebellar ataxia type 4 MONDO:0024237 Orphanet:85292 Orphanet:183500 inherited neurodegenerative disorder -MONDO:0010537 Borjeson-Forssman-Lehmann syndrome MONDO:0015159 Orphanet:127 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0010537 Borjeson-Forssman-Lehmann syndrome MONDO:0015653 Orphanet:127 Orphanet:166472 monogenic epilepsy -MONDO:0010539 X-linked mandibulofacial dysostosis MONDO:0015159 Orphanet:1131 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0010539 X-linked mandibulofacial dysostosis MONDO:0018237 Orphanet:1131 Orphanet:364574 acrofacial dysostosis -MONDO:0010545 Nance-Horan syndrome MONDO:0015159 Orphanet:627 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0010557 choroideremia MONDO:0957337 Orphanet:180 Orphanet:519300 isolated chorioretinal dystrophy -MONDO:0010561 Coffin-Lowry syndrome MONDO:0015159 Orphanet:192 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0010570 craniofrontonasal syndrome MONDO:0015159 Orphanet:1520 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0010570 craniofrontonasal syndrome MONDO:0015338 Orphanet:1520 Orphanet:139393 syndromic craniosynostosis -MONDO:0010570 craniofrontonasal syndrome MONDO:0016643 Orphanet:1520 Orphanet:250 frontonasal dysplasia -MONDO:0010570 craniofrontonasal syndrome MONDO:0018237 Orphanet:1520 Orphanet:364574 acrofacial dysostosis -MONDO:0010571 otopalatodigital syndrome type 2 MONDO:0015159 Orphanet:90652 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0010572 occipital horn syndrome MONDO:0015159 Orphanet:198 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0010578 deafness dystonia syndrome MONDO:0016802 Orphanet:52368 Orphanet:254834 mitochondrial protein import disorder -MONDO:0010590 FG syndrome 1 MONDO:0015159 Orphanet:93932 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0010592 focal dermal hypoplasia MONDO:0015159 Orphanet:2092 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0010592 focal dermal hypoplasia MONDO:0019287 Orphanet:2092 Orphanet:79373 ectodermal dysplasia syndrome -MONDO:0010592 focal dermal hypoplasia MONDO:0019294 Orphanet:2092 Orphanet:79380 mixed dermis disorder -MONDO:0010610 holoprosencephaly-hypokinesia-congenital contractures syndrome MONDO:0043009 Orphanet:2570 Orphanet:471383 hereditary lethal multiple congenital anomalies/dysmorphic syndrome -MONDO:0010638 keratosis follicularis-dwarfism-cerebral atrophy syndrome MONDO:0015159 Orphanet:2339 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0010641 X-linked diffuse leiomyomatosis-Alport syndrome MONDO:0018965 Orphanet:1018 Orphanet:63 Alport syndrome -MONDO:0010650 Melnick-Needles syndrome MONDO:0015161 Orphanet:2484 Orphanet:102285 multiple congenital anomalies/dysmorphic syndrome without intellectual disability -MONDO:0010652 X-linked intellectual disability-seizures-psoriasis syndrome MONDO:0015159 Orphanet:3052 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0010653 Renpenning syndrome MONDO:0015159 Orphanet:3242 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0010661 severe X-linked intellectual disability, Gustavson type MONDO:0015159 Orphanet:3078 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0010662 paraplegia-intellectual disability-hyperkeratosis syndrome MONDO:0015159 Orphanet:2824 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0010664 syndromic X-linked intellectual disability Snyder type MONDO:0015159 Orphanet:3063 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0010665 Wilson-Turner syndrome MONDO:0015159 Orphanet:3459 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0010667 Prieto syndrome MONDO:0015159 Orphanet:2958 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0010668 skeletal dysplasia-intellectual disability syndrome MONDO:0015159 Orphanet:1436 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0010671 microphthalmia, syndromic 1 MONDO:0015159 Orphanet:85275 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0010672 linear skin defects with multiple congenital anomalies MONDO:0015159 Orphanet:2556 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0010674 mucopolysaccharidosis type 2 MONDO:0010674 Orphanet:580 Orphanet:79388 mucopolysaccharidosis type 2 -MONDO:0010679 Duchenne muscular dystrophy MONDO:0016147 Orphanet:98896 Orphanet:207085 qualitative or quantitative defects of dystrophin -MONDO:0010702 orofaciodigital syndrome I MONDO:0015159 Orphanet:2750 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0010702 orofaciodigital syndrome I MONDO:0015375 Orphanet:2750 Orphanet:140997 orofaciodigital syndrome -MONDO:0010702 orofaciodigital syndrome I MONDO:0019287 Orphanet:2750 Orphanet:79373 ectodermal dysplasia syndrome -MONDO:0010702 orofaciodigital syndrome I MONDO:0021029 Orphanet:2750 Orphanet:183460 hereditary sebaceous gland anomaly -MONDO:0010704 otopalatodigital syndrome type 1 MONDO:0015159 Orphanet:90650 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0010708 Pallister-W syndrome MONDO:0015159 Orphanet:2804 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0010708 Pallister-W syndrome MONDO:0015650 Orphanet:2804 Orphanet:166463 epilepsy syndrome -MONDO:0010711 TARP syndrome MONDO:0015159 Orphanet:2886 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0010726 Rett syndrome MONDO:0015653 Orphanet:778 Orphanet:166472 monogenic epilepsy -MONDO:0010728 SCARF syndrome MONDO:0015159 Orphanet:3134 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0010728 SCARF syndrome MONDO:0015338 Orphanet:3134 Orphanet:139393 syndromic craniosynostosis -MONDO:0010728 SCARF syndrome MONDO:0016175 Orphanet:3134 Orphanet:209 cutis laxa -MONDO:0010729 X-linked intellectual disability, Schimke type MONDO:0015159 Orphanet:85285 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0010731 Simpson-Golabi-Behmel syndrome MONDO:0015159 Orphanet:373 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0010731 Simpson-Golabi-Behmel syndrome MONDO:0015496 Orphanet:373 Orphanet:156207 macroglossia -MONDO:0010749 trigonocephaly-short stature-developmental delay syndrome MONDO:0015159 Orphanet:3369 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0010749 trigonocephaly-short stature-developmental delay syndrome MONDO:0015338 Orphanet:3369 Orphanet:139393 syndromic craniosynostosis -MONDO:0010754 van den Bosch syndrome MONDO:0015159 Orphanet:3417 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0010758 Wieacker-Wolff syndrome MONDO:0015159 Orphanet:3454 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0010758 Wieacker-Wolff syndrome MONDO:0015159 Orphanet:85283 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0010773 mitochondrial myopathy with diabetes MONDO:0015967 Orphanet:2596 Orphanet:183625 monogenic diabetes -MONDO:0010790 MERRF syndrome MONDO:0020074 Orphanet:551 Orphanet:98261 progressive myoclonus epilepsy -MONDO:0010797 Pearson syndrome MONDO:0020099 Orphanet:699 Orphanet:98362 inherited sideroblastic anemia -MONDO:0010802 pancreatic hypoplasia-diabetes-congenital heart disease syndrome MONDO:0015967 Orphanet:2255 Orphanet:183625 monogenic diabetes -MONDO:0010816 Qazi Markouizos syndrome MONDO:0015159 Orphanet:3010 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0010816 Qazi Markouizos syndrome MONDO:0019952 Orphanet:3010 Orphanet:97245 congenital myopathy -MONDO:0010824 disorder of sex development-intellectual disability syndrome MONDO:0015159 Orphanet:2983 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0010826 childhood absence epilepsy MONDO:0017704 Orphanet:64280 Orphanet:309 familial partial epilepsy -MONDO:0010840 pachygyria-intellectual disability-epilepsy syndrome MONDO:0015159 Orphanet:2798 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0010879 CODAS syndrome MONDO:0015159 Orphanet:1458 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0010881 mesomelia-synostoses syndrome MONDO:0019696 Orphanet:2496 Orphanet:93437 acromesomelic dysplasia -MONDO:0010886 2q37 microdeletion syndrome MONDO:0015159 Orphanet:1001 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0010901 HEC syndrome MONDO:0016333 Orphanet:2119 Orphanet:217607 familial dilated cardiomyopathy -MONDO:0010901 HEC syndrome MONDO:0016340 Orphanet:2119 Orphanet:217635 familial restrictive cardiomyopathy -MONDO:0010901 HEC syndrome MONDO:0016345 Orphanet:2119 Orphanet:217720 non-familial restrictive cardiomyopathy -MONDO:0010911 prolactin-producing pituitary gland adenoma MONDO:0003429 Orphanet:2965 Orphanet:314753 functioning pituitary gland adenoma -MONDO:0010932 progressive bifocal chorioretinal atrophy MONDO:0957337 Orphanet:75373 Orphanet:519300 isolated chorioretinal dystrophy -MONDO:0010972 hydrocephalus-costovertebral dysplasia-Sprengel anomaly syndrome MONDO:0015159 Orphanet:2180 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0011010 Matthew-Wood syndrome MONDO:0015159 Orphanet:2470 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0011011 skeletal dysplasia-epilepsy-short stature syndrome MONDO:0015159 Orphanet:1858 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0011018 brachyolmia-amelogenesis imperfecta syndrome MONDO:0015262 Orphanet:2899 Orphanet:1293 brachyolmia -MONDO:0011019 alopecia-intellectual disability-hypergonadotropic hypogonadism syndrome MONDO:0015159 Orphanet:1014 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0011022 Potocki-Shaffer syndrome MONDO:0015159 Orphanet:52022 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0011035 neurofibromatosis-Noonan syndrome MONDO:0019289 Orphanet:638 Orphanet:79375 hyperpigmentation of the skin -MONDO:0011035 neurofibromatosis-Noonan syndrome MONDO:0020297 Orphanet:638 Orphanet:98733 Noonan syndrome and Noonan-related syndrome -MONDO:0011071 hereditary thrombocytopenia and hematologic cancer predisposition syndrome MONDO:0850064 Orphanet:71290 Orphanet:619340 inherited hematologic cancer-predisposing syndrome -MONDO:0011076 myofibrillar myopathy 1 MONDO:0016108 Orphanet:98909 Orphanet:206650 autosomal dominant distal myopathy -MONDO:0011076 myofibrillar myopathy 1 MONDO:0016112 Orphanet:98909 Orphanet:206662 hereditary inclusion-body myopathy -MONDO:0011076 myofibrillar myopathy 1 MONDO:0016340 Orphanet:98909 Orphanet:217635 familial restrictive cardiomyopathy -MONDO:0011078 anterior chamber cleavage disorder, cerebellar hypoplasia, hypothyroidism, and tracheal stenosis MONDO:0850008 Orphanet:2321 Orphanet:519276 anterior segment developmental abnormality with extraocular manifestations -MONDO:0011093 mucopolysaccharidosis type 9 MONDO:0800088 Orphanet:67041 Orphanet:93448 lysosomal storage disease with skeletal involvement -MONDO:0011128 Sheldon-hall syndrome MONDO:0957111 Orphanet:1147 Orphanet:98738 neurological muscular channelopathy due to a genetic sodium channel defect -MONDO:0011134 Curry-Jones syndrome MONDO:0015159 Orphanet:1553 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0011145 colobomatous microphthalmia - obesity - hypogenitalism - intellectual disability syndrome MONDO:0016073 Orphanet:363741 Orphanet:202948 syndromic microphthalmia -MONDO:0011147 chromosome 18q deletion syndrome MONDO:0011147 Orphanet:1600 Orphanet:262146 chromosome 18q deletion syndrome -MONDO:0011150 acroosteolysis-keloid-like lesions-premature aging syndrome MONDO:0015333 Orphanet:363665 Orphanet:139033 progeroid syndrome -MONDO:0011152 PHGDH deficiency MONDO:0035004 Orphanet:79351 Orphanet:583595 serine biosynthesis pathway deficiency, infantile/juvenile form -MONDO:0011157 Gomez-Lopez-Hernandez syndrome MONDO:0015159 Orphanet:1532 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0011202 RHYNS syndrome MONDO:0019741 Orphanet:140976 Orphanet:93587 familial cystic renal disease -MONDO:0011217 desmosterolosis MONDO:0015159 Orphanet:35107 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0011218 autosomal recessive congenital ichthyosis 11 MONDO:0004907 Orphanet:91132 Orphanet:79364 alopecia -MONDO:0011235 pelvic dysplasia-arthrogryposis of lower limbs syndrome MONDO:0019942 Orphanet:2840 Orphanet:97120 distal arthrogryposis -MONDO:0011240 megalencephaly-capillary malformation-polymicrogyria syndrome MONDO:0015159 Orphanet:60040 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0011240 megalencephaly-capillary malformation-polymicrogyria syndrome MONDO:0019293 Orphanet:60040 Orphanet:79379 skin vascular disease -MONDO:0011243 grange syndrome MONDO:0015159 Orphanet:79094 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0011244 Marshall-Smith syndrome MONDO:0015159 Orphanet:561 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0011255 mandibulofacial dysostosis-macroblepharon-macrostomia syndrome MONDO:0020161 Orphanet:357158 Orphanet:98570 congenital ectropion -MONDO:0011261 spondyloepiphyseal dysplasia with coronal craniosynostosis, cataracts, cleft palate, and intellectual disability MONDO:0015159 Orphanet:163649 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0011273 H syndrome MONDO:0015967 Orphanet:168569 Orphanet:183625 monogenic diabetes -MONDO:0011274 Muenke syndrome MONDO:0015159 Orphanet:53271 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0011338 Omenn syndrome MONDO:0018814 Orphanet:39041 Orphanet:480549 non-SCID combined immunodeficiency -MONDO:0011359 acromelic frontonasal dysostosis MONDO:0015159 Orphanet:1827 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0011414 Peters anomaly MONDO:0011119 Orphanet:708 Orphanet:98634 iridogoniodysgenesis -MONDO:0011430 pulverulent cataract MONDO:0020377 Orphanet:98984 Orphanet:98992 early-onset partial cataract -MONDO:0011462 pyogenic arthritis-pyoderma gangrenosum-acne syndrome MONDO:0957404 Orphanet:69126 Orphanet:324942 pyogenic autoinflammatory syndrome of childhood -MONDO:0011476 MHC class I deficiency MONDO:0018814 Orphanet:34592 Orphanet:480549 non-SCID combined immunodeficiency -MONDO:0011506 familial infantile myoclonic epilepsy MONDO:0020071 Orphanet:352582 Orphanet:98258 infantile epilepsy syndrome -MONDO:0011510 Bohring-Opitz syndrome MONDO:0015338 Orphanet:97297 Orphanet:139393 syndromic craniosynostosis -MONDO:0011537 macrocephaly-autism syndrome MONDO:0015159 Orphanet:210548 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0011604 spondylo-ocular syndrome MONDO:0015159 Orphanet:85194 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0011604 spondylo-ocular syndrome MONDO:0850009 Orphanet:85194 Orphanet:519294 syndromic microspherophakia -MONDO:0011610 dimethylglycine dehydrogenase deficiency MONDO:0019239 Orphanet:243343 Orphanet:79194 inborn disorder of serine family metabolism -MONDO:0011615 East Texas bleeding disorder MONDO:0035742 Orphanet:391320 Orphanet:599519 factor V short isoforms-related bleeding disorder -MONDO:0011652 Phelan-McDermid syndrome MONDO:0015159 Orphanet:48652 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0011669 hypotonia-cystinuria syndrome MONDO:0011669 Orphanet:163690 Orphanet:238517 hypotonia-cystinuria syndrome -MONDO:0011669 hypotonia-cystinuria syndrome MONDO:0015962 Orphanet:238517 Orphanet:183592 inherited renal tubular disease -MONDO:0011676 PHACE syndrome MONDO:0015159 Orphanet:42775 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0011686 DNA ligase IV deficiency MONDO:0015159 Orphanet:99812 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0011686 DNA ligase IV deficiency MONDO:0018814 Orphanet:99812 Orphanet:480549 non-SCID combined immunodeficiency -MONDO:0011706 Kufor-Rakeb syndrome MONDO:0020257 Orphanet:306674 Orphanet:98687 supranuclear oculomotor palsy -MONDO:0011723 hemifacial myohyperplasia MONDO:0015496 Orphanet:141148 Orphanet:156207 macroglossia -MONDO:0011758 Hurler syndrome MONDO:0015159 Orphanet:93473 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0011812 Duane-radial ray syndrome MONDO:0015161 Orphanet:959 Orphanet:102285 multiple congenital anomalies/dysmorphic syndrome without intellectual disability -MONDO:0011816 lathosterolosis MONDO:0015159 Orphanet:46059 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0011835 sensory ataxic neuropathy, dysarthria, and ophthalmoparesis MONDO:0020074 Orphanet:402082 Orphanet:98261 progressive myoclonus epilepsy -MONDO:0011841 biotin-responsive basal ganglia disease MONDO:0015653 Orphanet:199348 Orphanet:166472 monogenic epilepsy -MONDO:0011876 juvenile absence epilepsy MONDO:0017704 Orphanet:1941 Orphanet:309 familial partial epilepsy -MONDO:0011882 skin fragility-woolly hair-palmoplantar keratoderma syndrome MONDO:0019287 Orphanet:293165 Orphanet:79373 ectodermal dysplasia syndrome -MONDO:0011899 Noonan syndrome-like disorder with loose anagen hair MONDO:0015159 Orphanet:2701 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0011936 microphthalmia with brain and digit anomalies MONDO:0015159 Orphanet:139471 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0011939 Spondyloenchondrodysplasia with immune dysregulation MONDO:0957408 Orphanet:1855 Orphanet:481671 type 1 interferonopathy of childhood -MONDO:0011957 retinal macular dystrophy type 2 MONDO:0957048 Orphanet:319640 Orphanet:519302 isolated macular dystrophy -MONDO:0011959 sweet syndrome MONDO:0957018 Orphanet:3243 Orphanet:319719 autoinflammatory syndrome of childhood -MONDO:0011976 lipodystrophy-intellectual disability-deafness syndrome MONDO:0015159 Orphanet:50811 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0011976 lipodystrophy-intellectual disability-deafness syndrome MONDO:0015333 Orphanet:50811 Orphanet:139033 progeroid syndrome -MONDO:0011979 adult-onset foveomacular vitelliform dystrophy MONDO:0018973 Orphanet:99000 Orphanet:63454 patterned dystrophy of the retinal pigment epithelium -MONDO:0012013 Weill-Marchesani syndrome 2, dominant MONDO:0850009 Orphanet:2084 Orphanet:519294 syndromic microspherophakia -MONDO:0012016 capillary malformation-arteriovenous malformation syndrome MONDO:0021060 Orphanet:137667 Orphanet:536391 RASopathy -MONDO:0012118 COG7-congenital disorder of glycosylation MONDO:0015159 Orphanet:79333 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0012126 familial avascular necrosis of femoral head MONDO:0022800 Orphanet:86820 Orphanet:93421 type 2 collagenopathy -MONDO:0012137 Carney complex - trismus - pseudocamptodactyly syndrome MONDO:0019289 Orphanet:319340 Orphanet:79375 hyperpigmentation of the skin MONDO:0012161 susceptibility to respiratory infections associated with CD8alpha chain mutation MONDO:0000001 Orphanet:169085 Orphanet:377788 disease -MONDO:0012161 susceptibility to respiratory infections associated with CD8alpha chain mutation MONDO:0018814 Orphanet:169085 Orphanet:480549 non-SCID combined immunodeficiency -MONDO:0012172 mitochondrial trifunctional protein deficiency MONDO:0017713 Orphanet:746 Orphanet:309115 disorder of fatty acid oxidation and ketogenesis -MONDO:0012173 long chain 3-hydroxyacyl-CoA dehydrogenase deficiency MONDO:0017715 Orphanet:5 Orphanet:309127 3-hydroxyacyl-CoA dehydrogenase deficiency -MONDO:0012184 Pierson syndrome MONDO:0850008 Orphanet:2670 Orphanet:519276 anterior segment developmental abnormality with extraocular manifestations -MONDO:0012198 PCWH syndrome MONDO:0019046 Orphanet:163746 Orphanet:68356 leukodystrophy -MONDO:0012198 PCWH syndrome MONDO:0019290 Orphanet:163746 Orphanet:79376 hypopigmentation of the skin -MONDO:0012198 PCWH syndrome MONDO:0020127 Orphanet:163746 Orphanet:98497 hereditary peripheral neuropathy -MONDO:0012208 congenital reticular ichthyosiform erythroderma MONDO:0017266 Orphanet:281190 Orphanet:281103 keratinopathic ichthyosis -MONDO:0012209 branchiogenic deafness syndrome MONDO:0015159 Orphanet:50815 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0012275 fetal valproate syndrome MONDO:0015338 Orphanet:1906 Orphanet:139393 syndromic craniosynostosis -MONDO:0012301 mitochondrial DNA depletion syndrome, myopathic form MONDO:0009637 Orphanet:254875 Orphanet:206966 inborn mitochondrial myopathy -MONDO:0012307 familial scaphocephaly syndrome, McGillivray type MONDO:0015159 Orphanet:168624 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0012308 Joubert syndrome with renal defect MONDO:0015159 Orphanet:220497 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0012308 Joubert syndrome with renal defect MONDO:0015369 Orphanet:220497 Orphanet:140874 Joubert syndrome and related disorders -MONDO:0012308 Joubert syndrome with renal defect MONDO:0019741 Orphanet:220497 Orphanet:93587 familial cystic renal disease -MONDO:0012316 Majeed syndrome MONDO:0957404 Orphanet:77297 Orphanet:324942 pyogenic autoinflammatory syndrome of childhood -MONDO:0012359 combined immunodeficiency due to partial RAG1 deficiency MONDO:0018814 Orphanet:231154 Orphanet:480549 non-SCID combined immunodeficiency -MONDO:0012382 hyperinsulinemic hypoglycemia, familial, 4 MONDO:0017715 Orphanet:71212 Orphanet:309127 3-hydroxyacyl-CoA dehydrogenase deficiency -MONDO:0012391 neuronal ceroid lipofuscinosis 8 northern epilepsy variant MONDO:0015159 Orphanet:1947 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0012400 cortical dysplasia-focal epilepsy syndrome MONDO:0015650 Orphanet:163681 Orphanet:166463 epilepsy syndrome -MONDO:0012414 neuronal ceroid lipofuscinosis 10 MONDO:0850001 Orphanet:228337 Orphanet:168486 congenital neuronal ceroid lipofuscinosis -MONDO:0012423 MORM syndrome MONDO:0022410 Orphanet:75858 Orphanet:156165 retinal ciliopathy -MONDO:0012436 neonatal diabetes mellitus with congenital hypothyroidism MONDO:0019741 Orphanet:79118 Orphanet:93587 familial cystic renal disease -MONDO:0012496 Koolen-de Vries syndrome MONDO:0015338 Orphanet:96169 Orphanet:139393 syndromic craniosynostosis -MONDO:0012517 Gaucher disease due to saposin C deficiency MONDO:0018150 Orphanet:309252 Orphanet:355 Gaucher disease -MONDO:0012521 herpes simplex encephalitis MONDO:0015979 Orphanet:1930 Orphanet:183710 hereditary predisposition to infections -MONDO:0012574 Potocki-Lupski syndrome MONDO:0015159 Orphanet:1713 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0012589 Pitt-Hopkins syndrome MONDO:0015653 Orphanet:2896 Orphanet:166472 monogenic epilepsy -MONDO:0012596 PSAT deficiency MONDO:0035004 Orphanet:284417 Orphanet:583595 serine biosynthesis pathway deficiency, infantile/juvenile form -MONDO:0012605 isolated microphthalmia 5 MONDO:0016073 Orphanet:251279 Orphanet:202948 syndromic microphthalmia -MONDO:0012611 polyhydramnios, megalencephaly, and symptomatic epilepsy MONDO:0015159 Orphanet:500533 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0012634 craniofacial dysplasia - osteopenia syndrome MONDO:0015159 Orphanet:314555 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0012638 microphthalmia-brain atrophy syndrome MONDO:0015159 Orphanet:77299 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0012639 hereditary spastic paraplegia 18 MONDO:0015087 Orphanet:209951 Orphanet:100979 autosomal dominant complex spastic paraplegia -MONDO:0012650 Cernunnos-XLF deficiency MONDO:0018814 Orphanet:169079 Orphanet:480549 non-SCID combined immunodeficiency MONDO:0012682 immunodeficiency 35 MONDO:0000001 Orphanet:331226 Orphanet:377788 disease -MONDO:0012687 familial cavitary optic disk anomaly MONDO:0850010 Orphanet:464760 Orphanet:519333 congenital optic disk excavation -MONDO:0012721 progressive myoclonic epilepsy type 3 MONDO:0019261 Orphanet:263516 Orphanet:79263 infantile neuronal ceroid lipofuscinosis -MONDO:0012735 Temple-Baraitser syndrome MONDO:0015159 Orphanet:420561 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0012739 microtia-eye coloboma-imperforation of the nasolacrimal duct syndrome MONDO:0850008 Orphanet:139450 Orphanet:519276 anterior segment developmental abnormality with extraocular manifestations -MONDO:0012747 glycogen storage disease due to aldolase A deficiency MONDO:0002412 Orphanet:57 Orphanet:79201 disorder of glycogen metabolism -MONDO:0012794 ANE syndrome MONDO:0004907 Orphanet:157954 Orphanet:79364 alopecia -MONDO:0012817 Ewing sarcoma MONDO:0021054 Orphanet:319 Orphanet:223727 bone sarcoma MONDO:0012839 pyogenic bacterial infections due to MyD88 deficiency MONDO:0000001 Orphanet:183713 Orphanet:377788 disease -MONDO:0012853 Fontaine progeroid syndrome MONDO:0019303 Orphanet:2963 Orphanet:79389 premature aging syndrome -MONDO:0012864 chromosome 2q32-q33 deletion syndrome MONDO:0015159 Orphanet:251019 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0012873 Ehlers-Danlos syndrome, spondylocheirodysplastic type MONDO:0034021 Orphanet:157965 Orphanet:536471 spondylodysplastic Ehlers-Danlos syndrome -MONDO:0012929 Compton-North congenital myopathy MONDO:0015168 Orphanet:210163 Orphanet:1037 arthrogryposis multiplex congenita -MONDO:0012948 chromosome 6pter-p24 deletion syndrome MONDO:0850008 Orphanet:96125 Orphanet:519276 anterior segment developmental abnormality with extraocular manifestations -MONDO:0013021 sterile multifocal osteomyelitis with periostitis and pustulosis MONDO:0957404 Orphanet:210115 Orphanet:324942 pyogenic autoinflammatory syndrome of childhood -MONDO:0013047 glycogen storage disease due to lactate dehydrogenase M-subunit deficiency MONDO:0016527 Orphanet:284426 Orphanet:2364 glycogen storage disease due to lactate dehydrogenase deficiency -MONDO:0013081 lymphoproliferative syndrome 1 MONDO:0018814 Orphanet:538963 Orphanet:480549 non-SCID combined immunodeficiency -MONDO:0013115 RIN2 syndrome MONDO:0015159 Orphanet:217335 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0013128 familial juvenile hyperuricemic nephropathy type 2 MONDO:0008264 Orphanet:217330 Orphanet:34149 autosomal dominant medullary cystic kidney disease with or without hyperuricemia -MONDO:0013171 purine nucleoside phosphorylase deficiency MONDO:0018814 Orphanet:760 Orphanet:480549 non-SCID combined immunodeficiency -MONDO:0013172 polymicrogyria with optic nerve hypoplasia MONDO:0015159 Orphanet:250972 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0013176 Weill-Marchesani 4 syndrome, recessive MONDO:0850009 Orphanet:363992 Orphanet:519294 syndromic microspherophakia -MONDO:0013226 combined immunodeficiency with faciooculoskeletal anomalies MONDO:0015159 Orphanet:221139 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0013226 combined immunodeficiency with faciooculoskeletal anomalies MONDO:0015708 Orphanet:221139 Orphanet:169349 immuno-osseous dysplasia -MONDO:0013256 chromosome 15q24 deletion syndrome MONDO:0044699 Orphanet:94065 Orphanet:500163 SIN3A-related intellectual disability syndrome -MONDO:0013268 frontonasal dysplasia with alopecia and genital anomaly MONDO:0004907 Orphanet:228390 Orphanet:79364 alopecia -MONDO:0013268 frontonasal dysplasia with alopecia and genital anomaly MONDO:0015159 Orphanet:228390 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0013308 CBL-related disorder MONDO:0020297 Orphanet:363972 Orphanet:98733 Noonan syndrome and Noonan-related syndrome -MONDO:0013316 occult macular dystrophy MONDO:0957048 Orphanet:247834 Orphanet:519302 isolated macular dystrophy -MONDO:0013352 intellectual disability-severe speech delay-mild dysmorphism syndrome MONDO:0015159 Orphanet:391372 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0013353 intellectual disability, anterior maxillary protrusion, and strabismus MONDO:0015159 Orphanet:562559 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0013357 chromosome 17q11.2 deletion syndrome, 1.4Mb MONDO:0015159 Orphanet:137634 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0013357 chromosome 17q11.2 deletion syndrome, 1.4Mb MONDO:0019716 Orphanet:137634 Orphanet:93460 overgrowth syndrome -MONDO:0013396 chromosome 1p32-p31 deletion syndrome MONDO:0015159 Orphanet:401986 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0013404 hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase MONDO:0015159 Orphanet:88618 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability MONDO:0013427 immunodeficiency 31B MONDO:0000001 Orphanet:391311 Orphanet:377788 disease -MONDO:0013523 Nestor-Guillermo progeria syndrome MONDO:0020087 Orphanet:280576 Orphanet:98305 hereditary lipodystrophy -MONDO:0013531 PSPH deficiency MONDO:0035004 Orphanet:79350 Orphanet:583595 serine biosynthesis pathway deficiency, infantile/juvenile form -MONDO:0013541 complex cortical dysplasia with other brain malformations 1 MONDO:0015159 Orphanet:300570 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0013572 Keppen-Lubinsky syndrome MONDO:0015159 Orphanet:435628 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0013574 cutis laxa - Marfanoid syndrome MONDO:0017310 Orphanet:171719 Orphanet:284993 Marfan and Marfan-related disorder -MONDO:0013599 autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome MONDO:0015979 Orphanet:391487 Orphanet:183710 hereditary predisposition to infections -MONDO:0013626 psoriasis 14, pustular MONDO:0957404 Orphanet:404546 Orphanet:324942 pyogenic autoinflammatory syndrome of childhood -MONDO:0013673 Wolfram-like syndrome MONDO:0015967 Orphanet:411590 Orphanet:183625 monogenic diabetes -MONDO:0013686 distal myopathy, Tateyama type MONDO:0016146 Orphanet:488650 Orphanet:207078 caveolinopathy -MONDO:0013743 autosomal systemic lupus erythematosus type 16 MONDO:0957408 Orphanet:300345 Orphanet:481671 type 1 interferonopathy of childhood -MONDO:0013759 melanoma, cutaneous malignant, susceptibility to, 8 MONDO:0000001 Orphanet:293822 Orphanet:377788 disease -MONDO:0013759 melanoma, cutaneous malignant, susceptibility to, 8 MONDO:0015356 Orphanet:293822 Orphanet:140162 hereditary neoplastic syndrome -MONDO:0013767 autoimmune lymphoproliferative syndrome type 4 MONDO:0015757 Orphanet:268114 Orphanet:171898 lymphoid hemopathy -MONDO:0013815 bent bone dysplasia syndrome 1 MONDO:0015338 Orphanet:313855 Orphanet:139393 syndromic craniosynostosis -MONDO:0013863 combined immunodeficiency due to LRBA deficiency MONDO:0015126 Orphanet:445018 Orphanet:101956 polyendocrinopathy -MONDO:0013863 combined immunodeficiency due to LRBA deficiency MONDO:0018814 Orphanet:445018 Orphanet:480549 non-SCID combined immunodeficiency -MONDO:0013873 IMAGe syndrome MONDO:0015514 Orphanet:85173 Orphanet:156643 hereditary endocrine growth disease -MONDO:0013885 Malan overgrowth syndrome MONDO:0015159 Orphanet:420179 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0013894 short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome MONDO:0005308 Orphanet:314394 Orphanet:363250 ciliopathy -MONDO:0013898 karyomegalic interstitial nephritis MONDO:0019741 Orphanet:401996 Orphanet:93587 familial cystic renal disease -MONDO:0013934 combined immunodeficiency due to STK4 deficiency MONDO:0018814 Orphanet:314689 Orphanet:480549 non-SCID combined immunodeficiency MONDO:0013954 Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency MONDO:0000001 Orphanet:319558 Orphanet:377788 disease MONDO:0013955 Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency MONDO:0000001 Orphanet:319552 Orphanet:377788 disease MONDO:0013956 Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency MONDO:0000001 Orphanet:319595 Orphanet:377788 disease MONDO:0013957 Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency MONDO:0000001 Orphanet:319600 Orphanet:377788 disease -MONDO:0013968 PGM1-congenital disorder of glycosylation MONDO:0002412 Orphanet:319646 Orphanet:79201 disorder of glycogen metabolism -MONDO:0013993 pontocerebellar hypoplasia type 7 MONDO:0015159 Orphanet:284339 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0014017 intellectual developmental disorder with autism and macrocephaly MONDO:0000001 Orphanet:642675 Orphanet:377788 disease -MONDO:0014017 intellectual developmental disorder with autism and macrocephaly MONDO:0015159 Orphanet:642675 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0014017 intellectual developmental disorder with autism and macrocephaly MONDO:0019716 Orphanet:642675 Orphanet:93460 overgrowth syndrome -MONDO:0014039 mitochondrial DNA depletion syndrome 11 MONDO:0009637 Orphanet:352447 Orphanet:206966 inborn mitochondrial myopathy -MONDO:0014039 mitochondrial DNA depletion syndrome 11 MONDO:0018121 Orphanet:352447 Orphanet:352456 mitochondrial DNA maintenance syndrome -MONDO:0014044 dysmorphism-conductive hearing loss-heart defect syndrome MONDO:0015159 Orphanet:289553 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0014082 cryptosporidiosis-chronic cholangitis-liver disease syndrome MONDO:0018814 Orphanet:357329 Orphanet:480549 non-SCID combined immunodeficiency -MONDO:0014119 intellectual disability-strabismus syndrome MONDO:0015159 Orphanet:363528 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0014139 Ehlers-Danlos syndrome, spondylodysplastic type, 2 MONDO:0034021 Orphanet:536467 Orphanet:536471 spondylodysplastic Ehlers-Danlos syndrome -MONDO:0014157 mandibular hypoplasia-deafness-progeroid syndrome MONDO:0015333 Orphanet:363649 Orphanet:139033 progeroid syndrome -MONDO:0014157 mandibular hypoplasia-deafness-progeroid syndrome MONDO:0020087 Orphanet:363649 Orphanet:98305 hereditary lipodystrophy -MONDO:0014160 TCR-alpha-beta-positive T-cell deficiency MONDO:0019787 Orphanet:397959 Orphanet:94075 autoimmune enteropathy -MONDO:0014165 multiple congenital anomalies-hypotonia-seizures syndrome 3 MONDO:0015338 Orphanet:369837 Orphanet:139393 syndromic craniosynostosis -MONDO:0014176 hypotonia, infantile, with psychomotor retardation and characteristic facies MONDO:0957111 Orphanet:371364 Orphanet:98738 neurological muscular channelopathy due to a genetic sodium channel defect -MONDO:0014197 combined immunodeficiency due to MALT1 deficiency MONDO:0018814 Orphanet:397964 Orphanet:480549 non-SCID combined immunodeficiency -MONDO:0014218 severe dermatitis-multiple allergies-metabolic wasting syndrome MONDO:0018037 Orphanet:369992 Orphanet:331223 hyper-IgE syndrome -MONDO:0014226 idiopathic CD4 lymphocytopenia MONDO:0018814 Orphanet:228000 Orphanet:480549 non-SCID combined immunodeficiency -MONDO:0014243 Schaaf-Yang syndrome MONDO:0018354 Orphanet:398069 Orphanet:398073 Prader-Willi-like syndrome -MONDO:0014268 combined immunodeficiency due to OX40 deficiency MONDO:0015356 Orphanet:431149 Orphanet:140162 hereditary neoplastic syndrome -MONDO:0014268 combined immunodeficiency due to OX40 deficiency MONDO:0018814 Orphanet:431149 Orphanet:480549 non-SCID combined immunodeficiency -MONDO:0014276 combined immunodeficiency due to CD3gamma deficiency MONDO:0018814 Orphanet:169082 Orphanet:480549 non-SCID combined immunodeficiency -MONDO:0014300 proximal myopathy with extrapyramidal signs MONDO:0024237 Orphanet:401768 Orphanet:183500 inherited neurodegenerative disorder -MONDO:0014306 vasculitis due to ADA2 deficiency MONDO:0957408 Orphanet:404553 Orphanet:481671 type 1 interferonopathy of childhood -MONDO:0014332 hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency MONDO:0019242 Orphanet:401948 Orphanet:79197 inborn disorder of branched-chain amino acid metabolism -MONDO:0014334 severe combined immunodeficiency due to LCK deficiency MONDO:0019787 Orphanet:280142 Orphanet:94075 autoimmune enteropathy -MONDO:0014338 IL21-related infantile inflammatory bowel disease MONDO:0018814 Orphanet:477661 Orphanet:480549 non-SCID combined immunodeficiency -MONDO:0014349 pontocerebellar hypoplasia type 10 MONDO:0015159 Orphanet:411493 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0014353 immunodeficiency 23 MONDO:0018037 Orphanet:443811 Orphanet:331223 hyper-IgE syndrome -MONDO:0014382 Tatton-Brown-Rahman overgrowth syndrome MONDO:0019716 Orphanet:404443 Orphanet:93460 overgrowth syndrome -MONDO:0014399 ataxia-telangiectasia-like disorder 2 MONDO:0015333 Orphanet:438134 Orphanet:139033 progeroid syndrome -MONDO:0014399 ataxia-telangiectasia-like disorder 2 MONDO:0019303 Orphanet:438134 Orphanet:79389 premature aging syndrome -MONDO:0014405 STING-associated vasculopathy with onset in infancy MONDO:0957408 Orphanet:425120 Orphanet:481671 type 1 interferonopathy of childhood -MONDO:0014414 STAT3-related early-onset multisystem autoimmune disease MONDO:0016537 Orphanet:438159 Orphanet:238510 lymphoproliferative syndrome -MONDO:0014414 STAT3-related early-onset multisystem autoimmune disease MONDO:0019098 Orphanet:438159 Orphanet:71203 autoimmune thrombocytopenia -MONDO:0014414 STAT3-related early-onset multisystem autoimmune disease MONDO:0020108 Orphanet:438159 Orphanet:98375 autoimmune hemolytic anemia MONDO:0014429 autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency MONDO:0000001 Orphanet:319581 Orphanet:377788 disease -MONDO:0014495 retinitis pigmentosa-juvenile cataract-short stature-intellectual disability syndrome MONDO:0015159 Orphanet:436245 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability MONDO:0014502 Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency MONDO:0000001 Orphanet:319563 Orphanet:377788 disease -MONDO:0014502 Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency MONDO:0957408 Orphanet:319563 Orphanet:481671 type 1 interferonopathy of childhood -MONDO:0014523 juvenile-onset diabetes mellitus-central and peripheral neurodegeneration syndrome MONDO:0015967 Orphanet:445062 Orphanet:183625 monogenic diabetes -MONDO:0014527 progeroid features-hepatocellular carcinoma predisposition syndrome MONDO:0015333 Orphanet:435953 Orphanet:139033 progeroid syndrome -MONDO:0014541 motor developmental delay due to 14q32.2 paternally expressed gene defect MONDO:0015159 Orphanet:254516 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0014556 congenital contractures of the limbs and face, hypotonia, and developmental delay MONDO:0015159 Orphanet:562528 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0014556 congenital contractures of the limbs and face, hypotonia, and developmental delay MONDO:0019942 Orphanet:562528 Orphanet:97120 distal arthrogryposis -MONDO:0014556 congenital contractures of the limbs and face, hypotonia, and developmental delay MONDO:0957111 Orphanet:562528 Orphanet:98738 neurological muscular channelopathy due to a genetic sodium channel defect -MONDO:0014559 progressive essential tremor-speech impairment-facial dysmorphism-intellectual disability-abnormal behavior syndrome MONDO:0015159 Orphanet:457212 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0014608 mandibulofacial dysostosis with alopecia MONDO:0004907 Orphanet:443995 Orphanet:79364 alopecia -MONDO:0014637 DOCK2 deficiency MONDO:0018814 Orphanet:447737 Orphanet:480549 non-SCID combined immunodeficiency -MONDO:0014645 BENTA disease MONDO:0018814 Orphanet:464336 Orphanet:480549 non-SCID combined immunodeficiency -MONDO:0014707 14q32 duplication syndrome MONDO:0020076 Orphanet:488280 Orphanet:98274 myeloproliferative neoplasm MONDO:0014710 autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency MONDO:0000001 Orphanet:477857 Orphanet:377788 disease -MONDO:0014722 Roifman syndrome MONDO:0015159 Orphanet:353298 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0014722 Roifman syndrome MONDO:0015708 Orphanet:353298 Orphanet:169349 immuno-osseous dysplasia -MONDO:0014723 PMP22-RAI1 contiguous gene duplication syndrome MONDO:0015159 Orphanet:477817 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0014746 SLC39A8-CDG MONDO:0017766 Orphanet:468699 Orphanet:309851 disorder of manganese transport -MONDO:0014747 familial progressive retinal dystrophy-iris coloboma-congenital cataract syndrome MONDO:0011119 Orphanet:488197 Orphanet:98634 iridogoniodysgenesis -MONDO:0014760 TFRC-related combined immunodeficiency MONDO:0018814 Orphanet:476113 Orphanet:480549 non-SCID combined immunodeficiency -MONDO:0014778 Lamb-Shaffer syndrome MONDO:0015159 Orphanet:530983 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0014791 Luscan-Lumish syndrome MONDO:0015159 Orphanet:597738 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0014791 Luscan-Lumish syndrome MONDO:0019716 Orphanet:597738 Orphanet:93460 overgrowth syndrome -MONDO:0014809 DDX41-related hematologic malignancy predisposition syndrome MONDO:0850064 Orphanet:488647 Orphanet:619340 inherited hematologic cancer-predisposing syndrome -MONDO:0014821 complex lethal osteochondrodysplasia MONDO:0005308 Orphanet:457378 Orphanet:363250 ciliopathy -MONDO:0014857 neurodevelopmental disorder with or without anomalies of the brain, eye, or heart MONDO:0015159 Orphanet:494344 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0014867 spinocerebellar ataxia 43 MONDO:0019792 Orphanet:497764 Orphanet:94145 autosomal dominant cerebellar ataxia type I -MONDO:0014870 NEK9-related lethal skeletal dysplasia MONDO:0005308 Orphanet:464366 Orphanet:363250 ciliopathy -MONDO:0014888 MIRAGE syndrome MONDO:0015514 Orphanet:494433 Orphanet:156643 hereditary endocrine growth disease -MONDO:0014888 MIRAGE syndrome MONDO:0015898 Orphanet:494433 Orphanet:181412 adrenogenital syndrome -MONDO:0014890 PERCHING syndrome MONDO:0015159 Orphanet:603684 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0015014 coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, and deafness MONDO:0016073 Orphanet:603494 Orphanet:202948 syndromic microphthalmia -MONDO:0015014 coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, and deafness MONDO:0017198 Orphanet:603494 Orphanet:2781 osteopetrosis -MONDO:0015014 coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, and deafness MONDO:0017305 Orphanet:603494 Orphanet:284811 syndromic oculocutaneous albinism -MONDO:0015017 anterior segment dysgenesis 8 MONDO:0011119 Orphanet:519388 Orphanet:98634 iridogoniodysgenesis -MONDO:0015028 48,XXYY syndrome MONDO:0015159 Orphanet:10 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0015055 acquired angioedema type 2 MONDO:0033948 Orphanet:100055 Orphanet:528663 acquired angioedema with C1Inh deficiency -MONDO:0015056 acquired angioedema type 1 MONDO:0033948 Orphanet:100056 Orphanet:528663 acquired angioedema with C1Inh deficiency -MONDO:0015061 neurogenic thoracic outlet syndrome MONDO:0015923 Orphanet:100073 Orphanet:182086 acquired peripheral neuropathy -MONDO:0015198 aniridia-ptosis-intellectual disability-familial obesity syndrome MONDO:0015159 Orphanet:1067 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0015199 aniridia - intellectual disability syndrome MONDO:0015159 Orphanet:1068 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0015201 ankyloblepharon filiforme-imperforate anus syndrome MONDO:0007124 Orphanet:1074 Orphanet:1071 ankyloblepharon-ectodermal defects-cleft lip/palate syndrome -MONDO:0015229 Bardet-Biedl syndrome MONDO:0015159 Orphanet:110 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0015229 Bardet-Biedl syndrome MONDO:0019741 Orphanet:110 Orphanet:93587 familial cystic renal disease -MONDO:0015235 arachnodactyly-intellectual disability-dysmorphism syndrome MONDO:0015159 Orphanet:1130 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0015240 digitotalar dysmorphism MONDO:0957111 Orphanet:1146 Orphanet:98738 neurological muscular channelopathy due to a genetic sodium channel defect -MONDO:0015253 Diamond-Blackfan anemia MONDO:0019236 Orphanet:124 Orphanet:79191 inborn disorder of purine metabolism -MONDO:0015267 Feingold syndrome MONDO:0015159 Orphanet:1305 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0015279 chronic mucocutaneous candidiasis MONDO:0015979 Orphanet:1334 Orphanet:183710 hereditary predisposition to infections -MONDO:0015285 Carney complex MONDO:0015079 Orphanet:1359 Orphanet:100094 multiple polyglandular tumor -MONDO:0015285 Carney complex MONDO:0019289 Orphanet:1359 Orphanet:79375 hyperpigmentation of the skin -MONDO:0015285 Carney complex MONDO:0021227 Orphanet:1359 Orphanet:100091 adrenal gland neoplasm -MONDO:0015290 neurotrophic keratopathy MONDO:0023865 Orphanet:137596 Orphanet:519278 corneal infection -MONDO:0015307 Madras motor neuron disease MONDO:0024257 Orphanet:137867 Orphanet:98505 hereditary motor neuron disease -MONDO:0015316 congenital laryngeal palsy MONDO:0015923 Orphanet:137932 Orphanet:182086 acquired peripheral neuropathy -MONDO:0015350 17q11.2 microduplication syndrome MONDO:0015159 Orphanet:139474 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0015431 ring chromosome 10 MONDO:0015159 Orphanet:1438 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0015452 Coffin-Siris syndrome MONDO:0015338 Orphanet:1465 Orphanet:139393 syndromic craniosynostosis -MONDO:0015518 infantile bilateral striatal necrosis MONDO:0024237 Orphanet:1576 Orphanet:183500 inherited neurodegenerative disorder -MONDO:0015538 indeterminate dendritic cell tumor MONDO:0020082 Orphanet:158019 Orphanet:98289 dendritic cell tumor -MONDO:0015541 hereditary hemophagocytic lymphohistiocytosis MONDO:0015541 Orphanet:540 Orphanet:158038 hereditary hemophagocytic lymphohistiocytosis -MONDO:0015552 acral dystrophic epidermolysis bullosa MONDO:0035349 Orphanet:158673 Orphanet:595356 localized dystrophic epidermolysis bullosa -MONDO:0015553 dystrophic epidermolysis bullosa, nails only MONDO:0035349 Orphanet:158676 Orphanet:595356 localized dystrophic epidermolysis bullosa -MONDO:0015564 Castleman disease MONDO:0015757 Orphanet:160 Orphanet:171898 lymphoid hemopathy -MONDO:0015583 2p21 microdeletion syndrome MONDO:0011669 Orphanet:163693 Orphanet:238517 hypotonia-cystinuria syndrome -MONDO:0015600 X-linked intellectual disability, Cilliers type MONDO:0015159 Orphanet:163971 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0015601 X-linked intellectual disability, van Esch type MONDO:0015159 Orphanet:163976 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0015608 acute myeloid leukemia and myelodysplastic syndromes related to radiation MONDO:0043459 Orphanet:164726 Orphanet:521132 radiation-induced disorder -MONDO:0015612 Dent disease MONDO:0000044 Orphanet:1652 Orphanet:437 hereditary hypophosphatemic rickets -MONDO:0015634 isolated osteopoikilosis MONDO:0017198 Orphanet:166119 Orphanet:2781 osteopetrosis -MONDO:0015674 late infantile neuronal ceroid lipofuscinosis MONDO:0016295 Orphanet:168491 Orphanet:216 neuronal ceroid lipofuscinosis -MONDO:0015674 late infantile neuronal ceroid lipofuscinosis MONDO:0020074 Orphanet:168491 Orphanet:98261 progressive myoclonus epilepsy -MONDO:0015691 hypereosinophilic syndrome MONDO:0020076 Orphanet:168956 Orphanet:98274 myeloproliferative neoplasm -MONDO:0015705 autosomal recessive centronuclear myopathy MONDO:0957115 Orphanet:169186 Orphanet:98742 neurological muscular channelopathy due to a genetic ryanodine receptor defect -MONDO:0015722 congenital vitamin K-dependent coagulation factors deficiency MONDO:0015722 Orphanet:98434 Orphanet:169826 congenital vitamin K-dependent coagulation factors deficiency -MONDO:0015736 intermediate nemaline myopathy MONDO:0018958 Orphanet:171433 Orphanet:607 nemaline myopathy -MONDO:0015745 microcephaly-polymicrogyria-corpus callosum agenesis syndrome MONDO:0015159 Orphanet:171703 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0015780 dyskeratosis congenita MONDO:0001713 Orphanet:1775 Orphanet:68383 inherited aplastic anemia -MONDO:0015780 dyskeratosis congenita MONDO:0016382 Orphanet:1775 Orphanet:222628 hereditary poikiloderma -MONDO:0015780 dyskeratosis congenita MONDO:0019289 Orphanet:1775 Orphanet:79375 hyperpigmentation of the skin -MONDO:0015780 dyskeratosis congenita MONDO:0850007 Orphanet:1775 Orphanet:519274 syndromic lacrimal system disorder -MONDO:0015793 moderate multiminicore disease with hand involvement MONDO:0957115 Orphanet:178145 Orphanet:98742 neurological muscular channelopathy due to a genetic ryanodine receptor defect -MONDO:0015864 mixed germ cell tumor MONDO:0020539 Orphanet:180234 Orphanet:99913 extragonadal non-dysgerminomatous germ cell tumor -MONDO:0015883 hidrotic ectodermal dysplasia, Halal type MONDO:0015159 Orphanet:1809 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0015942 frontometaphyseal dysplasia MONDO:0015159 Orphanet:1826 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0015995 melorheostosis with osteopoikilosis MONDO:0017198 Orphanet:1879 Orphanet:2781 osteopetrosis -MONDO:0015997 ectopia lentis-chorioretinal dystrophy-myopia syndrome MONDO:0957337 Orphanet:1884 Orphanet:519300 isolated chorioretinal dystrophy -MONDO:0015998 isolated ectopia lentis MONDO:0017310 Orphanet:1885 Orphanet:284993 Marfan and Marfan-related disorder -MONDO:0016006 Cockayne syndrome MONDO:0015159 Orphanet:191 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0016006 Cockayne syndrome MONDO:0024237 Orphanet:191 Orphanet:183500 inherited neurodegenerative disorder -MONDO:0016018 diabetic embryopathy MONDO:0016330 Orphanet:1926 Orphanet:217598 non-familial hypertrophic cardiomyopathy -MONDO:0016018 diabetic embryopathy MONDO:0019716 Orphanet:1926 Orphanet:93460 overgrowth syndrome -MONDO:0016022 early myoclonic encephalopathy MONDO:0020070 Orphanet:1935 Orphanet:98257 neonatal epilepsy syndrome -MONDO:0016056 isolated congenital microcephaly MONDO:0957008 Orphanet:199642 Orphanet:269553 hereditary cerebral malformation -MONDO:0016063 Cowden disease MONDO:0015185 Orphanet:201 Orphanet:104010 intestinal polyposis syndrome -MONDO:0016063 Cowden disease MONDO:0017623 Orphanet:201 Orphanet:306498 PTEN hamartoma tumor syndrome -MONDO:0016088 hypoxanthine-guanine phosphoribosyltransferase deficiency MONDO:0020112 Orphanet:206428 Orphanet:98415 vitamin B12- and folate-independent constitutional megaloblastic anemia -MONDO:0016097 symptomatic form of muscular dystrophy of Duchenne and Becker in female carriers MONDO:0016147 Orphanet:206546 Orphanet:207085 qualitative or quantitative defects of dystrophin -MONDO:0016113 bulbospinal muscular atrophy MONDO:0024257 Orphanet:206701 Orphanet:98505 hereditary motor neuron disease -MONDO:0016163 autosomal dominant cerebellar ataxia type II MONDO:0016163 Orphanet:94147 Orphanet:208508 autosomal dominant cerebellar ataxia type II -MONDO:0016163 autosomal dominant cerebellar ataxia type II MONDO:0020257 Orphanet:94147 Orphanet:98687 supranuclear oculomotor palsy -MONDO:0016238 solitary fibrous tumor MONDO:0018078 Orphanet:2126 Orphanet:3394 soft tissue sarcoma -MONDO:0016263 primitive neuroectodermal tumor of the corpus uteri MONDO:0005210 Orphanet:213630 Orphanet:213620 uterine corpus sarcoma -MONDO:0016292 nodular neuronal heterotopia MONDO:0015159 Orphanet:2149 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0016318 progressive multifocal leukoencephalopathy MONDO:0006009 Orphanet:217260 Orphanet:98252 viral encephalitis -MONDO:0016354 xeroderma pigmentosum-Cockayne syndrome complex MONDO:0015333 Orphanet:220295 Orphanet:139033 progeroid syndrome -MONDO:0016354 xeroderma pigmentosum-Cockayne syndrome complex MONDO:0019303 Orphanet:220295 Orphanet:79389 premature aging syndrome -MONDO:0016364 Joubert syndrome with ocular defect MONDO:0015159 Orphanet:220493 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0016364 Joubert syndrome with ocular defect MONDO:0022410 Orphanet:220493 Orphanet:156165 retinal ciliopathy -MONDO:0016366 maternal phenylketonuria MONDO:0015159 Orphanet:2209 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0016385 hypogonadism-mitral valve prolapse-intellectual disability syndrome MONDO:0015159 Orphanet:2233 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0016414 hypotrichosis-intellectual disability, Lopes type MONDO:0015159 Orphanet:2266 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0016414 hypotrichosis-intellectual disability, Lopes type MONDO:0019287 Orphanet:2266 Orphanet:79373 ectodermal dysplasia syndrome -MONDO:0016457 ptosis-upper ocular movement limitation-absence of lacrimal punctum syndrome MONDO:0850007 Orphanet:228396 Orphanet:519274 syndromic lacrimal system disorder -MONDO:0016459 2q23.1 microdeletion syndrome MONDO:0015159 Orphanet:228402 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0016460 polyvalvular heart disease syndrome MONDO:0015159 Orphanet:228410 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0016512 Kabuki syndrome MONDO:0020161 Orphanet:2322 Orphanet:98570 congenital ectropion -MONDO:0016515 Kallmann syndrome-heart disease syndrome MONDO:0015159 Orphanet:2326 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0016525 familial hyperaldosteronism MONDO:0016525 Orphanet:235936 Orphanet:371861 familial hyperaldosteronism -MONDO:0016526 trisomy 9p MONDO:0016526 Orphanet:236 Orphanet:262767 trisomy 9p -MONDO:0016537 lymphoproliferative syndrome MONDO:0015356 Orphanet:238510 Orphanet:140162 hereditary neoplastic syndrome -MONDO:0016554 neonatal iodine exposure MONDO:0016556 Orphanet:238688 Orphanet:238699 transient congenital hypothyroidism due to neonatal factor -MONDO:0016584 mandibuloacral dysplasia MONDO:0015333 Orphanet:2457 Orphanet:139033 progeroid syndrome -MONDO:0016593 acquired ataxia MONDO:0000437 Orphanet:247242 Orphanet:102002 cerebellar ataxia -MONDO:0016594 superficial siderosis MONDO:0016593 Orphanet:247245 Orphanet:247242 acquired ataxia -MONDO:0016596 hyperphosphatasia-intellectual disability syndrome MONDO:0015159 Orphanet:247262 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0016614 autosomal recessive ataxia due to PEX10 deficiency MONDO:0019053 Orphanet:247815 Orphanet:68373 peroxisomal disease -MONDO:0016620 primary hypertrophic osteoarthropathy MONDO:0016620 Orphanet:2796 Orphanet:248095 primary hypertrophic osteoarthropathy -MONDO:0016620 primary hypertrophic osteoarthropathy MONDO:0021154 Orphanet:2796 Orphanet:79381 dermis disorder -MONDO:0016653 2q33.1 microdeletion syndrome MONDO:0100147 Orphanet:251028 Orphanet:576278 SATB2 associated disorder -MONDO:0016660 autosomal recessive primary microcephaly MONDO:0015159 Orphanet:2512 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0016661 infantile onset panniculitis with uveitis and systemic granulomatosis MONDO:0957405 Orphanet:251304 Orphanet:324950 granulomatous autoinflammatory syndrome of childhood -MONDO:0016676 recurrent infections-inflammatory syndrome due to zinc metabolism disorder syndrome MONDO:0957404 Orphanet:251523 Orphanet:324942 pyogenic autoinflammatory syndrome of childhood -MONDO:0016751 malignant perineurioma MONDO:0017827 Orphanet:252128 Orphanet:3148 malignant peripheral nerve sheath tumor -MONDO:0016758 microcephaly-brain defect-spasticity-hypernatremia syndrome MONDO:0015159 Orphanet:2523 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0016781 maternal 14q32.2 microdeletion syndrome MONDO:0016912 Orphanet:254528 Orphanet:262110 partial deletion of the long arm of chromosome 14 -MONDO:0016833 14q12 microdeletion syndrome MONDO:0035383 Orphanet:261144 Orphanet:561854 FOXG1 syndrome -MONDO:0016845 21q22.11q22.12 microdeletion syndrome MONDO:0015159 Orphanet:261323 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0016845 21q22.11q22.12 microdeletion syndrome MONDO:0018795 Orphanet:261323 Orphanet:477794 syndromic constitutional thrombocytopenia -MONDO:0016991 acute necrotizing encephalopathy of childhood MONDO:0006009 Orphanet:263524 Orphanet:98252 viral encephalitis -MONDO:0017042 thanatophoric dysplasia MONDO:0015338 Orphanet:2655 Orphanet:139393 syndromic craniosynostosis -MONDO:0017089 isolated megalencephaly MONDO:0957008 Orphanet:268920 Orphanet:269553 hereditary cerebral malformation -MONDO:0017103 encephaloclastic disorder MONDO:0957008 Orphanet:269190 Orphanet:269553 hereditary cerebral malformation -MONDO:0017190 sporadic pheochromocytoma/secreting paraganglioma MONDO:0035540 Orphanet:276621 Orphanet:573163 pheochromocytoma-paraganglioma -MONDO:0017193 symptomatic form of Coffin-Lowry syndrome in female carriers MONDO:0015159 Orphanet:276630 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0017196 osteogenesis imperfecta-retinopathy-seizures-intellectual disability syndrome MONDO:0015159 Orphanet:2773 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0017279 young-onset Parkinson disease MONDO:0015914 Orphanet:2828 Orphanet:182058 primary orthostatic hypotension -MONDO:0017279 young-onset Parkinson disease MONDO:0021272 Orphanet:2828 Orphanet:448426 inherited orthostatic hypotension -MONDO:0017287 IgG4-related disease MONDO:0017287 Orphanet:596448 Orphanet:284264 IgG4-related disease -MONDO:0017364 POEMS syndrome MONDO:0004959 Orphanet:2905 Orphanet:98282 plasma cell neoplasm -MONDO:0017365 hereditary acrokeratotic poikiloderma, Weary type MONDO:0016382 Orphanet:2907 Orphanet:222628 hereditary poikiloderma -MONDO:0017366 hereditary pheochromocytoma-paraganglioma MONDO:0035540 Orphanet:29072 Orphanet:573163 pheochromocytoma-paraganglioma -MONDO:0017379 polyneuropathy-intellectual disability-acromicria-premature menopause syndrome MONDO:0015159 Orphanet:2928 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0017398 3MC syndrome MONDO:0015338 Orphanet:293843 Orphanet:139393 syndromic craniosynostosis -MONDO:0017411 neonatal inflammatory skin and bowel disease MONDO:0957404 Orphanet:294023 Orphanet:324942 pyogenic autoinflammatory syndrome of childhood -MONDO:0017417 renal-hepatic-pancreatic dysplasia MONDO:0019741 Orphanet:294415 Orphanet:93587 familial cystic renal disease -MONDO:0017443 congenital absence of both forearm and hand MONDO:0850030 Orphanet:294979 Orphanet:498491 complete hemimelia -MONDO:0017444 congenital absence of both lower leg and foot MONDO:0850030 Orphanet:294981 Orphanet:498491 complete hemimelia -MONDO:0017569 de Barsy syndrome MONDO:0015159 Orphanet:2962 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0017569 de Barsy syndrome MONDO:0016175 Orphanet:2962 Orphanet:209 cutis laxa -MONDO:0017569 de Barsy syndrome MONDO:0017355 Orphanet:2962 Orphanet:289866 inborn disorder of proline metabolism -MONDO:0017575 mitochondrial neurogastrointestinal encephalomyopathy MONDO:0018121 Orphanet:298 Orphanet:352456 mitochondrial DNA maintenance syndrome -MONDO:0017607 caudal regression sequence MONDO:0018639 Orphanet:3027 Orphanet:444941 caudal regression-sirenomelia spectrum -MONDO:0017703 disorder of glyoxylate metabolism MONDO:0019214 Orphanet:308998 Orphanet:79161 inborn carbohydrate metabolic disorder -MONDO:0017746 atypical Rett syndrome MONDO:0015653 Orphanet:3095 Orphanet:166472 monogenic epilepsy -MONDO:0017768 reflex epilepsy MONDO:0020072 Orphanet:310 Orphanet:98259 childhood-onset epilepsy syndrome -MONDO:0017768 reflex epilepsy MONDO:0020073 Orphanet:310 Orphanet:98260 adolescent-onset epilepsy syndrome -MONDO:0017778 lamellar ichthyosis MONDO:0017265 Orphanet:313 Orphanet:281097 autosomal recessive congenital ichthyosis -MONDO:0017781 12p12.1 microdeletion syndrome MONDO:0014778 Orphanet:313884 Orphanet:530983 Lamb-Shaffer syndrome -MONDO:0017782 developmental and speech delay due to SOX5 deficiency MONDO:0014778 Orphanet:313892 Orphanet:530983 Lamb-Shaffer syndrome -MONDO:0017786 2q23.1 microduplication syndrome MONDO:0015159 Orphanet:313947 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0017807 growing teratoma syndrome MONDO:0020539 Orphanet:314613 Orphanet:99913 extragonadal non-dysgerminomatous germ cell tumor -MONDO:0017818 lethal arteriopathy syndrome due to fibulin-4 deficiency MONDO:0016175 Orphanet:314718 Orphanet:209 cutis laxa -MONDO:0017842 Senior-Loken syndrome MONDO:0019741 Orphanet:3156 Orphanet:93587 familial cystic renal disease -MONDO:0017851 erythrokeratodermia variabilis MONDO:0017681 Orphanet:316 Orphanet:308166 erythrokeratoderma variabilis progressiva -MONDO:0017851 erythrokeratodermia variabilis MONDO:0017681 Orphanet:317 Orphanet:308166 erythrokeratoderma variabilis progressiva -MONDO:0017864 congenital pulmonary veins atresia or stenosis MONDO:0020295 Orphanet:3188 Orphanet:98729 congenital pulmonary veins anomaly -MONDO:0017868 diencephalic-mesencephalic junction dysplasia MONDO:0957008 Orphanet:319192 Orphanet:269553 hereditary cerebral malformation -MONDO:0017893 inherited acute myeloid leukemia MONDO:0850064 Orphanet:319465 Orphanet:619340 inherited hematologic cancer-predisposing syndrome MONDO:0017900 autosomal recessive Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR2 deficiency MONDO:0000001 Orphanet:319547 Orphanet:377788 disease MONDO:0017901 autosomal recessive Mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency MONDO:0000001 Orphanet:319569 Orphanet:377788 disease MONDO:0017902 autosomal recessive Mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR2 deficiency MONDO:0000001 Orphanet:319574 Orphanet:377788 disease MONDO:0017903 autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR2 deficiency MONDO:0000001 Orphanet:319589 Orphanet:377788 disease MONDO:0017905 X-linked Mendelian susceptibility to mycobacterial diseases MONDO:0000001 Orphanet:319605 Orphanet:377788 disease -MONDO:0017918 white matter hypoplasia-corpus callosum agenesis-intellectual disability syndrome MONDO:0015159 Orphanet:3207 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0017926 multiple paragangliomas associated with polycythemia MONDO:0005571 Orphanet:324299 Orphanet:98427 polycythemia -MONDO:0017926 multiple paragangliomas associated with polycythemia MONDO:0035540 Orphanet:324299 Orphanet:573163 pheochromocytoma-paraganglioma -MONDO:0017928 9p13 microdeletion syndrome MONDO:0015159 Orphanet:324313 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0017933 hypertrophic cardiomyopathy and renal tubular disease due to mitochondrial DNA mutation MONDO:0015962 Orphanet:324525 Orphanet:183592 inherited renal tubular disease -MONDO:0017936 benign Samaritan congenital myopathy MONDO:0957115 Orphanet:324581 Orphanet:98742 neurological muscular channelopathy due to a genetic ryanodine receptor defect -MONDO:0017942 Hendra virus infection MONDO:0006009 Orphanet:324632 Orphanet:98252 viral encephalitis -MONDO:0017953 hereditary periodic fever syndrome MONDO:0957403 Orphanet:324924 Orphanet:324939 periodic fever syndrome of childhood -MONDO:0017979 autoimmune lymphoproliferative syndrome MONDO:0015757 Orphanet:3261 Orphanet:171898 lymphoid hemopathy -MONDO:0018021 hypotrichosis-deafness syndrome MONDO:0004907 Orphanet:330029 Orphanet:79364 alopecia -MONDO:0018021 hypotrichosis-deafness syndrome MONDO:0017681 Orphanet:330029 Orphanet:308166 erythrokeratoderma variabilis progressiva -MONDO:0018030 tetrasomy 9p MONDO:0016526 Orphanet:3310 Orphanet:262767 trisomy 9p -MONDO:0018045 Hoyeraal-Hreidarsson syndrome MONDO:0001713 Orphanet:3322 Orphanet:68383 inherited aplastic anemia -MONDO:0018065 isolated trigonocephaly MONDO:0850072 Orphanet:3366 Orphanet:620096 non-syndromic unisutural craniosynostosis -MONDO:0018067 triploidy MONDO:0043009 Orphanet:3376 Orphanet:471383 hereditary lethal multiple congenital anomalies/dysmorphic syndrome -MONDO:0018094 Waardenburg syndrome MONDO:0019290 Orphanet:3440 Orphanet:79376 hypopigmentation of the skin -MONDO:0018096 Weill-Marchesani syndrome MONDO:0850009 Orphanet:3449 Orphanet:519294 syndromic microspherophakia -MONDO:0018097 West syndrome MONDO:0020071 Orphanet:3451 Orphanet:98258 infantile epilepsy syndrome -MONDO:0018105 Wolfram syndrome MONDO:0015967 Orphanet:3463 Orphanet:183625 monogenic diabetes -MONDO:0018123 intellectual disability-obesity-brain malformations-facial dysmorphism syndrome MONDO:0015159 Orphanet:352530 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0018125 focal epilepsy-intellectual disability-cerebro-cerebellar malformation MONDO:0015159 Orphanet:352587 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0018126 progressive myoclonic epilepsy with dystonia MONDO:0015653 Orphanet:352596 Orphanet:166472 monogenic epilepsy -MONDO:0018149 GM1 gangliosidosis MONDO:0800088 Orphanet:354 Orphanet:93448 lysosomal storage disease with skeletal involvement -MONDO:0018158 mitochondrial DNA depletion syndrome MONDO:0018121 Orphanet:35698 Orphanet:352456 mitochondrial DNA maintenance syndrome -MONDO:0018163 autosomal recessive cutis laxa type 2A MONDO:0017752 Orphanet:357058 Orphanet:309778 defect in V-ATPase -MONDO:0018169 morning glory syndrome MONDO:0850010 Orphanet:35737 Orphanet:519333 congenital optic disk excavation -MONDO:0018205 distal monosomy 1q MONDO:0015159 Orphanet:36367 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0018214 generalized epilepsy with febrile seizures plus MONDO:0017704 Orphanet:36387 Orphanet:309 familial partial epilepsy -MONDO:0018214 generalized epilepsy with febrile seizures plus MONDO:0020071 Orphanet:36387 Orphanet:98258 infantile epilepsy syndrome -MONDO:0018271 peripheral primitive neuroectodermal tumor MONDO:0018078 Orphanet:370348 Orphanet:3394 soft tissue sarcoma -MONDO:0018271 peripheral primitive neuroectodermal tumor MONDO:0021054 Orphanet:370348 Orphanet:223727 bone sarcoma -MONDO:0018304 Schnitzler syndrome MONDO:0015158 Orphanet:37748 Orphanet:102237 unexplained periodic fever syndrome -MONDO:0018305 chronic granulomatous disease MONDO:0015978 Orphanet:379 Orphanet:183681 functional neutrophil defect -MONDO:0018320 primary microcephaly-mild intellectual disability-young-onset diabetes syndrome MONDO:0015159 Orphanet:391408 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0018320 primary microcephaly-mild intellectual disability-young-onset diabetes syndrome MONDO:0015967 Orphanet:391408 Orphanet:183625 monogenic diabetes -MONDO:0018341 3q27.3 microdeletion syndrome MONDO:0016902 Orphanet:397695 Orphanet:262019 partial deletion of the long arm of chromosome 3 -MONDO:0018346 ferro-cerebro-cutaneous syndrome MONDO:0017748 Orphanet:397922 Orphanet:309515 inborn disorder of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation -MONDO:0018347 severe intellectual disability-progressive postnatal microcephaly- midline stereotypic hand movements syndrome MONDO:0015653 Orphanet:397933 Orphanet:166472 monogenic epilepsy -MONDO:0018354 Prader-Willi-like syndrome MONDO:0015159 Orphanet:398073 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0018419 autosomal recessive spastic paraplegia type 67 MONDO:0017748 Orphanet:401820 Orphanet:309515 inborn disorder of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation -MONDO:0018448 clear cell papillary renal cell carcinoma MONDO:0005005 Orphanet:404511 Orphanet:319276 clear cell renal carcinoma -MONDO:0018472 familial isolated trichomegaly MONDO:0019278 Orphanet:411788 Orphanet:79363 hair anomaly -MONDO:0018493 malignant hyperthermia of anesthesia MONDO:0957115 Orphanet:423 Orphanet:98742 neurological muscular channelopathy due to a genetic ryanodine receptor defect -MONDO:0018528 congenital myopathy with myasthenic-like onset MONDO:0957115 Orphanet:424107 Orphanet:98742 neurological muscular channelopathy due to a genetic ryanodine receptor defect -MONDO:0018540 PFAPA syndrome MONDO:0015158 Orphanet:42642 Orphanet:102237 unexplained periodic fever syndrome -MONDO:0018543 autosomal dominant hypocalcemia MONDO:0015653 Orphanet:428 Orphanet:166472 monogenic epilepsy -MONDO:0018544 adrenoleukodystrophy MONDO:0019233 Orphanet:43 Orphanet:79188 disorder of peroxisomal beta oxidation -MONDO:0018555 hypogonadotropic hypogonadism MONDO:0016553 Orphanet:432 Orphanet:238666 isolated congenital hypogonadotropic hypogonadism -MONDO:0018569 X-linked microcephaly-growth retardation-prognathism-cryptorchidism syndrome MONDO:0015159 Orphanet:435938 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0018571 contractures-developmental delay-Pierre Robin syndrome MONDO:0015159 Orphanet:436003 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0018608 pure autonomic failure MONDO:0015914 Orphanet:441 Orphanet:182058 primary orthostatic hypotension -MONDO:0018616 central serous chorioretinopathy MONDO:0957337 Orphanet:443079 Orphanet:519300 isolated chorioretinal dystrophy -MONDO:0018631 Marie Unna hereditary hypotrichosis MONDO:0004907 Orphanet:444 Orphanet:79364 alopecia MONDO:0018643 susceptibility to localized juvenile periodontitis MONDO:0000001 Orphanet:447740 Orphanet:377788 disease -MONDO:0018643 susceptibility to localized juvenile periodontitis MONDO:0015978 Orphanet:447740 Orphanet:183681 functional neutrophil defect -MONDO:0018657 pigmentation defects-palmoplantar keratoderma-skin carcinoma syndrome MONDO:0004907 Orphanet:447961 Orphanet:79364 alopecia -MONDO:0018657 pigmentation defects-palmoplantar keratoderma-skin carcinoma syndrome MONDO:0015356 Orphanet:447961 Orphanet:140162 hereditary neoplastic syndrome -MONDO:0018657 pigmentation defects-palmoplantar keratoderma-skin carcinoma syndrome MONDO:0019287 Orphanet:447961 Orphanet:79373 ectodermal dysplasia syndrome -MONDO:0018657 pigmentation defects-palmoplantar keratoderma-skin carcinoma syndrome MONDO:0019288 Orphanet:447961 Orphanet:79374 skin pigmentation disorder -MONDO:0018677 visceral heterotaxy MONDO:0018677 Orphanet:157769 Orphanet:450 visceral heterotaxy -MONDO:0018686 acquired Creutzfeldt-Jakob disease MONDO:0035562 Orphanet:454700 Orphanet:576360 acquired human prion disease -MONDO:0018705 infantile-onset axonal motor and sensory neuropathy-optic atrophy-neurodegenerative syndrome MONDO:0015159 Orphanet:457205 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0018740 drug-induced methemoglobinemia MONDO:0019050 Orphanet:464453 Orphanet:68364 inherited hemoglobinopathy -MONDO:0018767 severe primary trimethylaminuria MONDO:0019189 Orphanet:468726 Orphanet:79062 inborn disorder of amino acid and other organic acid metabolism -MONDO:0018770 Jeune syndrome MONDO:0022410 Orphanet:474 Orphanet:156165 retinal ciliopathy -MONDO:0018772 Joubert syndrome MONDO:0015159 Orphanet:475 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0018772 Joubert syndrome MONDO:0015369 Orphanet:475 Orphanet:140874 Joubert syndrome and related disorders -MONDO:0018780 congenital generalized hypercontractile muscle stiffness syndrome MONDO:0017303 Orphanet:476406 Orphanet:284790 qualitative or quantitative defects of tropomyosin -MONDO:0018800 Kallmann syndrome MONDO:0016553 Orphanet:478 Orphanet:238666 isolated congenital hypogonadotropic hypogonadism -MONDO:0018821 X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability MONDO:0015159 Orphanet:480880 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0018827 familial chilblain lupus MONDO:0957408 Orphanet:481662 Orphanet:481671 type 1 interferonopathy of childhood -MONDO:0018828 pseudo-TORCH syndrome 2 MONDO:0957408 Orphanet:481665 Orphanet:481671 type 1 interferonopathy of childhood -MONDO:0018835 nodular regenerative hyperplasia of the liver MONDO:0035357 Orphanet:48372 Orphanet:596937 portosinusoidal vascular disease -MONDO:0018838 lissencephaly spectrum disorders MONDO:0015159 Orphanet:48471 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0018860 microlissencephaly-micromelia syndrome MONDO:0015159 Orphanet:50810 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0018866 Aicardi-Goutieres syndrome MONDO:0957408 Orphanet:51 Orphanet:481671 type 1 interferonopathy of childhood -MONDO:0018875 Li-Fraumeni syndrome MONDO:0850064 Orphanet:524 Orphanet:619340 inherited hematologic cancer-predisposing syndrome -MONDO:0018883 Berardinelli-Seip congenital lipodystrophy MONDO:0015159 Orphanet:528 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0018883 Berardinelli-Seip congenital lipodystrophy MONDO:0015333 Orphanet:528 Orphanet:139033 progeroid syndrome -MONDO:0018907 craniopharyngioma MONDO:0015514 Orphanet:54595 Orphanet:156643 hereditary endocrine growth disease -MONDO:0018919 McCune-Albright syndrome MONDO:0015791 Orphanet:562 Orphanet:178040 peripheral precocious puberty -MONDO:0018919 McCune-Albright syndrome MONDO:0019289 Orphanet:562 Orphanet:79375 hyperpigmentation of the skin -MONDO:0018921 Meckel syndrome MONDO:0019741 Orphanet:564 Orphanet:93587 familial cystic renal disease -MONDO:0018921 Meckel syndrome MONDO:0022410 Orphanet:564 Orphanet:156165 retinal ciliopathy -MONDO:0018923 22q11.2 deletion syndrome MONDO:0015159 Orphanet:567 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0018924 microphthalmia, Lenz type MONDO:0015159 Orphanet:568 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0018925 familial or sporadic hemiplegic migraine MONDO:0015642 Orphanet:569 Orphanet:166311 benign partial infantile seizures -MONDO:0018930 monosomy 21 MONDO:0016919 Orphanet:574 Orphanet:262173 partial deletion of the long arm of chromosome 21 -MONDO:0018931 mucolipidosis type III, alpha/beta MONDO:0018931 Orphanet:423461 Orphanet:577 mucolipidosis type III, alpha/beta -MONDO:0018937 mucopolysaccharidosis type 3 MONDO:0800088 Orphanet:581 Orphanet:93448 lysosomal storage disease with skeletal involvement -MONDO:0018938 mucopolysaccharidosis type 4 MONDO:0800088 Orphanet:582 Orphanet:93448 lysosomal storage disease with skeletal involvement -MONDO:0018939 muscle-eye-brain disease MONDO:0016156 Orphanet:588 Orphanet:207119 qualitative or quantitative defects of FKRP -MONDO:0018939 muscle-eye-brain disease MONDO:0016185 Orphanet:588 Orphanet:209033 qualitative or quantitative defects of protein O-mannosyltransferase 2 -MONDO:0018959 potassium-aggravated myotonia MONDO:0957111 Orphanet:612 Orphanet:98738 neurological muscular channelopathy due to a genetic sodium channel defect -MONDO:0018967 short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia MONDO:0016463 Orphanet:632 Orphanet:229720 syndromic agammaglobulinemia -MONDO:0018973 patterned dystrophy of the retinal pigment epithelium MONDO:0957048 Orphanet:63454 Orphanet:519302 isolated macular dystrophy -MONDO:0018975 neurofibromatosis type 1 MONDO:0019289 Orphanet:636 Orphanet:79375 hyperpigmentation of the skin -MONDO:0018975 neurofibromatosis type 1 MONDO:0859008 Orphanet:636 Orphanet:634518 neurofibromatosis/schwannomatosis -MONDO:0018982 Niemann-Pick disease type C MONDO:0020143 Orphanet:646 Orphanet:98544 cerebral lipidosis with dementia -MONDO:0018982 Niemann-Pick disease type C MONDO:0020257 Orphanet:646 Orphanet:98687 supranuclear oculomotor palsy -MONDO:0018982 Niemann-Pick disease type C MONDO:0024237 Orphanet:646 Orphanet:183500 inherited neurodegenerative disorder -MONDO:0018991 hepatoportal sclerosis MONDO:0035357 Orphanet:64743 Orphanet:596937 portosinusoidal vascular disease -MONDO:0018997 Noonan syndrome MONDO:0015159 Orphanet:648 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0018997 Noonan syndrome MONDO:0015338 Orphanet:648 Orphanet:139393 syndromic craniosynostosis -MONDO:0018997 Noonan syndrome MONDO:0850064 Orphanet:648 Orphanet:619340 inherited hematologic cancer-predisposing syndrome -MONDO:0019002 Lhermitte-Duclos disease MONDO:0017623 Orphanet:65285 Orphanet:306498 PTEN hamartoma tumor syndrome -MONDO:0019005 nephronophthisis MONDO:0019741 Orphanet:655 Orphanet:93587 familial cystic renal disease -MONDO:0019012 Carpenter syndrome MONDO:0005308 Orphanet:65759 Orphanet:363250 ciliopathy -MONDO:0019012 Carpenter syndrome MONDO:0015159 Orphanet:65759 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0019016 maternally-inherited progressive external ophthalmoplegia MONDO:0005181 Orphanet:663 Orphanet:520820 progressive external ophthalmoplegia -MONDO:0019032 X-linked intellectual disability with isolated growth hormone deficiency MONDO:0010615 Orphanet:67045 Orphanet:231692 isolated growth hormone deficiency type III -MONDO:0019040 chromosomal disorder MONDO:0019755 Orphanet:68335 Orphanet:93890 developmental defect during embryogenesis -MONDO:0019075 Bosley-Salih-Alorainy syndrome MONDO:0015159 Orphanet:69737 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0019084 radiation proctitis MONDO:0043459 Orphanet:70475 Orphanet:521132 radiation-induced disorder -MONDO:0019088 post-transplant lymphoproliferative disease MONDO:0015760 Orphanet:70568 Orphanet:171918 T-cell non-Hodgkin lymphoma -MONDO:0019088 post-transplant lymphoproliferative disease MONDO:0017343 Orphanet:70568 Orphanet:289644 Epstein-Barr virus-associated malignant lymphoproliferative disorder -MONDO:0019088 post-transplant lymphoproliferative disease MONDO:0020083 Orphanet:70568 Orphanet:98290 immunodeficiency-associated lymphoproliferative disease -MONDO:0019102 dentinogenesis imperfecta-short stature-hearing loss-intellectual disability syndrome MONDO:0015159 Orphanet:71267 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0019129 global developmental delay-osteopenia-ectodermal defect syndrome MONDO:0015159 Orphanet:73223 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0019130 tubular renal disease-cardiomyopathy syndrome MONDO:0015962 Orphanet:73224 Orphanet:183592 inherited renal tubular disease -MONDO:0019131 ossification anomalies-psychomotor developmental delay syndrome MONDO:0015159 Orphanet:73230 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0019148 Wolman disease MONDO:0019149 Orphanet:75233 Orphanet:275761 cholesteryl ester storage disease -MONDO:0019171 familial long QT syndrome MONDO:0019171 Orphanet:101016 Orphanet:768 familial long QT syndrome -MONDO:0019180 hereditary hemorrhagic telangiectasia MONDO:0019293 Orphanet:774 Orphanet:79379 skin vascular disease -MONDO:0019187 Axenfeld-Rieger syndrome MONDO:0850008 Orphanet:782 Orphanet:519276 anterior segment developmental abnormality with extraocular manifestations -MONDO:0019190 juvenile polyposis of infancy MONDO:0016909 Orphanet:79076 Orphanet:262083 partial monosomy of the long arm of chromosome 10 -MONDO:0019194 localized lipodystrophy MONDO:0020089 Orphanet:79088 Orphanet:98307 acquired lipodystrophy -MONDO:0019207 DEND syndrome MONDO:0015650 Orphanet:79134 Orphanet:166463 epilepsy syndrome -MONDO:0019208 Bickerstaff brainstem encephalitis MONDO:0020640 Orphanet:79138 Orphanet:622014 autoimmune encephalitis -MONDO:0019216 inborn disorder of amino acid transport MONDO:0019189 Orphanet:79166 Orphanet:79062 inborn disorder of amino acid and other organic acid metabolism -MONDO:0019232 inborn disorder of peptide metabolism MONDO:0019189 Orphanet:79187 Orphanet:79062 inborn disorder of amino acid and other organic acid metabolism -MONDO:0019235 inborn disorder of phenylalanine and tyrosine metabolism MONDO:0019189 Orphanet:79190 Orphanet:79062 inborn disorder of amino acid and other organic acid metabolism -MONDO:0019245 lysosomal lipid storage disorder MONDO:0019255 Orphanet:79204 Orphanet:79225 sphingolipidosis -MONDO:0019249 mucopolysaccharidosis MONDO:0015338 Orphanet:79213 Orphanet:139393 syndromic craniosynostosis -MONDO:0019260 adult neuronal ceroid lipofuscinosis MONDO:0020074 Orphanet:79262 Orphanet:98261 progressive myoclonus epilepsy -MONDO:0019261 infantile neuronal ceroid lipofuscinosis MONDO:0020074 Orphanet:79263 Orphanet:98261 progressive myoclonus epilepsy -MONDO:0019262 juvenile neuronal ceroid lipofuscinosis MONDO:0020074 Orphanet:79264 Orphanet:98261 progressive myoclonus epilepsy -MONDO:0019280 hypertrichosis MONDO:0019278 Orphanet:79365 Orphanet:79363 hair anomaly -MONDO:0019284 inherited isolated nail anomaly MONDO:0019283 Orphanet:79369 Orphanet:79368 nail anomaly -MONDO:0019321 atypical Werner syndrome MONDO:0015333 Orphanet:79474 Orphanet:139033 progeroid syndrome -MONDO:0019338 sarcoidosis MONDO:0016345 Orphanet:797 Orphanet:217720 non-familial restrictive cardiomyopathy -MONDO:0019349 Sotos syndrome MONDO:0015159 Orphanet:821 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0019349 Sotos syndrome MONDO:0019716 Orphanet:821 Orphanet:93460 overgrowth syndrome -MONDO:0019353 Stargardt disease MONDO:0957048 Orphanet:827 Orphanet:519302 isolated macular dystrophy -MONDO:0019374 CAMOS syndrome MONDO:0015159 Orphanet:83472 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0019375 megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome MONDO:0015159 Orphanet:83473 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0019377 Mycoplasma encephalitis MONDO:0006009 Orphanet:83482 Orphanet:98252 viral encephalitis -MONDO:0019383 acute disseminated encephalomyelitis MONDO:0020640 Orphanet:83597 Orphanet:622014 autoimmune encephalitis -MONDO:0019383 acute disseminated encephalomyelitis MONDO:0044685 Orphanet:83597 Orphanet:499047 autoimmune/inflammatory optic neuropathy -MONDO:0019385 steroid-responsive encephalopathy associated with autoimmune thyroiditis MONDO:0016593 Orphanet:83601 Orphanet:247242 acquired ataxia -MONDO:0019386 progressive rubella panencephalitis MONDO:0006009 Orphanet:83616 Orphanet:98252 viral encephalitis -MONDO:0019391 Fanconi anemia MONDO:0015159 Orphanet:84 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0019391 Fanconi anemia MONDO:0019289 Orphanet:84 Orphanet:79375 hyperpigmentation of the skin -MONDO:0019394 Senior-Boichis syndrome MONDO:0019741 Orphanet:84081 Orphanet:93587 familial cystic renal disease -MONDO:0019414 BRESEK syndrome MONDO:0015159 Orphanet:85284 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0019419 X-linked intellectual disability-macrocephaly-macroorchidism syndrome MONDO:0015159 Orphanet:85320 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0019421 X-linked intellectual disability, Seemanova type MONDO:0015159 Orphanet:85323 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0019424 X-linked intellectual disability-acromegaly-hyperactivity syndrome MONDO:0015159 Orphanet:85327 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0019428 fried syndrome MONDO:0015159 Orphanet:85335 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0019438 AL amyloidosis MONDO:0004959 Orphanet:85443 Orphanet:98282 plasma cell neoplasm -MONDO:0019518 Waardenburg-Shah syndrome MONDO:0019290 Orphanet:897 Orphanet:79376 hypopigmentation of the skin -MONDO:0019529 radiation myelitis MONDO:0043459 Orphanet:90021 Orphanet:521132 radiation-induced disorder -MONDO:0019600 xeroderma pigmentosum MONDO:0015333 Orphanet:910 Orphanet:139033 progeroid syndrome -MONDO:0019609 Zellweger spectrum disorders MONDO:0015159 Orphanet:912 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0019610 Zollinger-Ellison syndrome MONDO:0015063 Orphanet:913 Orphanet:100076 duodenal neuroendocrine tumor, well differentiated, low or intermediate grade -MONDO:0019610 Zollinger-Ellison syndrome MONDO:0023206 Orphanet:913 Orphanet:506060 functional pancreatic neuroendocrine tumor -MONDO:0019623 hereditary angioedema MONDO:0019013 Orphanet:91378 Orphanet:658 non-histaminic angioedema -MONDO:0019624 acquired angioedema MONDO:0019013 Orphanet:91385 Orphanet:658 non-histaminic angioedema -MONDO:0019625 familial thoracic aortic aneurysm and aortic dissection MONDO:0017310 Orphanet:91387 Orphanet:284993 Marfan and Marfan-related disorder -MONDO:0019725 pediatric systemic lupus erythematosus MONDO:0019737 Orphanet:93552 Orphanet:93573 thrombotic microangiopathy -MONDO:0019736 dense deposit disease MONDO:0018013 Orphanet:93571 Orphanet:329918 non-immunoglobulin-mediated membranoproliferative glomerulonephritis -MONDO:0019784 12q14 microdeletion syndrome MONDO:0015159 Orphanet:94063 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0019784 12q14 microdeletion syndrome MONDO:0017198 Orphanet:94063 Orphanet:2781 osteopetrosis -MONDO:0019788 non-secreting paraganglioma MONDO:0035540 Orphanet:94080 Orphanet:573163 pheochromocytoma-paraganglioma -MONDO:0019851 acquired primary ovarian failure MONDO:0015514 Orphanet:95709 Orphanet:156643 hereditary endocrine growth disease -MONDO:0019928 48,XXXY syndrome MONDO:0015159 Orphanet:96263 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0019929 49,XXXXY syndrome MONDO:0015159 Orphanet:96264 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0019933 acromegaly MONDO:0006238 Orphanet:963 Orphanet:96256 growth hormone-producing pituitary gland adenoma -MONDO:0019943 hereditary continuous muscle fiber activity MONDO:0957114 Orphanet:972 Orphanet:98741 neurological muscular channelopathy due to a genetic potassium channel defect -MONDO:0019947 rippling muscle disease 2 MONDO:0016146 Orphanet:97238 Orphanet:207078 caveolinopathy -MONDO:0019955 GRFoma MONDO:0023206 Orphanet:97261 Orphanet:506060 functional pancreatic neuroendocrine tumor -MONDO:0019957 PPoma MONDO:0023206 Orphanet:97278 Orphanet:506060 functional pancreatic neuroendocrine tumor -MONDO:0019959 glucagonoma MONDO:0023206 Orphanet:97280 Orphanet:506060 functional pancreatic neuroendocrine tumor -MONDO:0019960 VIPoma MONDO:0023206 Orphanet:97282 Orphanet:506060 functional pancreatic neuroendocrine tumor -MONDO:0019978 Robinow syndrome MONDO:0015159 Orphanet:97360 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0020120 skeletal muscle disorder MONDO:0019056 Orphanet:98472 Orphanet:68381 neuromuscular disease -MONDO:0020344 postsynaptic congenital myasthenic syndrome MONDO:0957111 Orphanet:98913 Orphanet:98738 neurological muscular channelopathy due to a genetic sodium channel defect -MONDO:0020356 coloboma of iris MONDO:0011119 Orphanet:98944 Orphanet:98634 iridogoniodysgenesis -MONDO:0020368 Axenfeld anomaly MONDO:0011119 Orphanet:98978 Orphanet:98634 iridogoniodysgenesis -MONDO:0020469 48,XYYY syndrome MONDO:0015159 Orphanet:99329 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0020478 Leber plus disease MONDO:0020249 Orphanet:99718 Orphanet:98671 hereditary optic neuropathy -MONDO:0020479 pituitary gigantism MONDO:0006238 Orphanet:99725 Orphanet:96256 growth hormone-producing pituitary gland adenoma -MONDO:0020485 King-Denborough syndrome MONDO:0015159 Orphanet:99741 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0020485 King-Denborough syndrome MONDO:0957115 Orphanet:99741 Orphanet:98742 neurological muscular channelopathy due to a genetic ryanodine receptor defect -MONDO:0020495 PEHO-like syndrome MONDO:0015650 Orphanet:99807 Orphanet:166463 epilepsy syndrome -MONDO:0020499 Nipah virus disease MONDO:0006009 Orphanet:99825 Orphanet:98252 viral encephalitis -MONDO:0020502 yellow fever MONDO:0018087 Orphanet:99829 Orphanet:341 viral hemorrhagic fever -MONDO:0020527 ectopic Cushing syndrome MONDO:0023206 Orphanet:99889 Orphanet:506060 functional pancreatic neuroendocrine tumor -MONDO:0020528 ACTH-dependent Cushing syndrome MONDO:0957431 Orphanet:99892 Orphanet:641613 endogenous Cushing syndrome MONDO:0020530 Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR1 deficiency MONDO:0000001 Orphanet:99898 Orphanet:377788 disease -MONDO:0020540 ovarian gynandroblastoma MONDO:0018172 Orphanet:99914 Orphanet:35808 malignant sex cord stromal tumor of ovary -MONDO:0020569 intermediate DEND syndrome MONDO:0015650 Orphanet:99989 Orphanet:166463 epilepsy syndrome -MONDO:0020603 X-linked chondrodysplasia punctata 2 MONDO:0017269 Orphanet:35173 Orphanet:281210 X-linked ichthyosis syndrome -MONDO:0020774 Menke-Hennekam syndrome MONDO:0015159 Orphanet:592574 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0020783 capillary malformation-arteriovenous malformation 1 MONDO:0007864 Orphanet:90307 Orphanet:2346 angioosteohypertrophic syndrome -MONDO:0021005 faciodigitogenital syndrome MONDO:0015159 Orphanet:915 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0021081 anti-NMDA receptor encephalitis MONDO:0020640 Orphanet:217253 Orphanet:622014 autoimmune encephalitis -MONDO:0021651 synpolydactyly MONDO:0019530 Orphanet:93403 Orphanet:90025 non-syndromic syndactyly -MONDO:0022851 Dennis-Fairhurst-Moore syndrome MONDO:0015159 Orphanet:2109 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0022851 Dennis-Fairhurst-Moore syndrome MONDO:0019287 Orphanet:2109 Orphanet:79373 ectodermal dysplasia syndrome -MONDO:0022851 Dennis-Fairhurst-Moore syndrome MONDO:0019303 Orphanet:2109 Orphanet:79389 premature aging syndrome -MONDO:0023171 foix chavany Marie syndrome MONDO:0015923 Orphanet:2048 Orphanet:182086 acquired peripheral neuropathy -MONDO:0023201 Fryns Smeets Thiry syndrome MONDO:0015159 Orphanet:2058 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0024504 enterochromaffin cell serotonin-producing pancreatic neuroendocrine tumor MONDO:0023206 Orphanet:506090 Orphanet:506060 functional pancreatic neuroendocrine tumor -MONDO:0024537 Brown-Vialetto-van Laere syndrome 1 MONDO:0100309 Orphanet:572543 Orphanet:183518 hereditary ataxia -MONDO:0024557 ataxia-telangiectasia-like disorder 1 MONDO:0019293 Orphanet:251347 Orphanet:79379 skin vascular disease -MONDO:0025193 oculopharyngodistal myopathy MONDO:0016108 Orphanet:98897 Orphanet:206650 autosomal dominant distal myopathy -MONDO:0025514 livedoid vasculopathy MONDO:0019293 Orphanet:542643 Orphanet:79379 skin vascular disease -MONDO:0029134 severe combined immunodeficiency due to CARMIL2 deficiency MONDO:0016537 Orphanet:542301 Orphanet:238510 lymphoproliferative syndrome -MONDO:0030045 Liberfarb syndrome MONDO:0015159 Orphanet:589442 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0030074 spondylometaphyseal dysplasia with corneal dystrophy MONDO:0015159 Orphanet:589435 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0030074 spondylometaphyseal dysplasia with corneal dystrophy MONDO:0016763 Orphanet:589435 Orphanet:254 spondylometaphyseal dysplasia -MONDO:0030258 pontocerebellar hypoplasia, type 14 MONDO:0015159 Orphanet:613274 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0030805 spinocerebellar ataxia 49 MONDO:0019792 Orphanet:631106 Orphanet:94145 autosomal dominant cerebellar ataxia type I -MONDO:0030894 AMED syndrome, digenic MONDO:0001713 Orphanet:611216 Orphanet:68383 inherited aplastic anemia -MONDO:0030898 immunodeficiency 76 MONDO:0018814 Orphanet:647804 Orphanet:480549 non-SCID combined immunodeficiency -MONDO:0030914 Clark-Baraitser syndrome MONDO:0015159 Orphanet:600731 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0030947 neurodegeneration, childhood-onset, with hypotonia, respiratory insufficiency, and brain imaging abnormalities MONDO:0024237 Orphanet:610573 Orphanet:183500 inherited neurodegenerative disorder -MONDO:0031007 spondyloepiphyseal dysplasia, sensorineural hearing loss, impaired intellectual development, and leber congenital amaurosis MONDO:0015159 Orphanet:611207 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0031007 spondyloepiphyseal dysplasia, sensorineural hearing loss, impaired intellectual development, and leber congenital amaurosis MONDO:0019046 Orphanet:611207 Orphanet:68356 leukodystrophy -MONDO:0031008 nephrotic syndrome, type 24 MONDO:0018170 Orphanet:567548 Orphanet:357502 idiopathic nephrotic syndrome -MONDO:0031415 Carey-Fineman-Ziter syndrome MONDO:0015159 Orphanet:1358 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0031415 Carey-Fineman-Ziter syndrome MONDO:0019952 Orphanet:1358 Orphanet:97245 congenital myopathy -MONDO:0031481 microcephaly, epilepsy, and diabetes syndrome 1 MONDO:0015967 Orphanet:306558 Orphanet:183625 monogenic diabetes -MONDO:0032526 spinocerebellar ataxia 48 MONDO:0019792 Orphanet:631103 Orphanet:94145 autosomal dominant cerebellar ataxia type I -MONDO:0032600 Snijders Blok-Campeau syndrome MONDO:0015159 Orphanet:599082 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0032642 arthrogryposis, cleft palate, craniosynostosis, and impaired intellectual development MONDO:0015159 Orphanet:565858 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0032642 arthrogryposis, cleft palate, craniosynostosis, and impaired intellectual development MONDO:0015338 Orphanet:565858 Orphanet:139393 syndromic craniosynostosis -MONDO:0032642 arthrogryposis, cleft palate, craniosynostosis, and impaired intellectual development MONDO:0015653 Orphanet:565858 Orphanet:166472 monogenic epilepsy -MONDO:0032643 pontocerebellar hypoplasia, type 12 MONDO:0015168 Orphanet:611256 Orphanet:1037 arthrogryposis multiplex congenita -MONDO:0032653 cardiac-urogenital syndrome MONDO:0015161 Orphanet:647811 Orphanet:102285 multiple congenital anomalies/dysmorphic syndrome without intellectual disability -MONDO:0032672 intellectual developmental disorder with cardiac defects and dysmorphic facies MONDO:0015159 Orphanet:562569 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0032677 lissencephaly 9 with complex brainstem malformation MONDO:0015146 Orphanet:572013 Orphanet:102009 classic lissencephaly -MONDO:0032688 polymicrogyria with or without vascular-type Ehlers-Danlos syndrome MONDO:0020066 Orphanet:636941 Orphanet:98249 Ehlers-Danlos syndrome -MONDO:0032714 facial dysmorphism, hypertrichosis, epilepsy, intellectual/developmental delay, and gingival overgrowth syndrome MONDO:0015159 Orphanet:598603 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0032714 facial dysmorphism, hypertrichosis, epilepsy, intellectual/developmental delay, and gingival overgrowth syndrome MONDO:0019280 Orphanet:598603 Orphanet:79365 hypertrichosis -MONDO:0032716 leukoencephalopathy, acute reversible, with increased urinary alpha-ketoglutarate MONDO:0016790 Orphanet:615964 Orphanet:254749 tricarboxylic acid cycle disorder -MONDO:0032831 pontocerebellar hypoplasia, type 13 MONDO:0015159 Orphanet:613267 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0033282 multiple mitochondrial dysfunctions syndrome 5 MONDO:0024237 Orphanet:569274 Orphanet:183500 inherited neurodegenerative disorder -MONDO:0033479 spinocerebellar ataxia 44 MONDO:0019793 Orphanet:631095 Orphanet:94148 autosomal dominant cerebellar ataxia type III -MONDO:0033642 neurodevelopmental disorder with alopecia and brain abnormalities MONDO:0015159 Orphanet:544488 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0033642 neurodevelopmental disorder with alopecia and brain abnormalities MONDO:0017356 Orphanet:544488 Orphanet:289869 inborn disorder of ornithine metabolism -MONDO:0033810 isolated iridoschisis MONDO:0011119 Orphanet:519392 Orphanet:98634 iridogoniodysgenesis -MONDO:0033938 acute radiation syndrome MONDO:0043459 Orphanet:454831 Orphanet:521132 radiation-induced disorder -MONDO:0034110 atypical Fanconi syndrome-neonatal hyperinsulinism syndrome MONDO:0015962 Orphanet:544628 Orphanet:183592 inherited renal tubular disease -MONDO:0034110 atypical Fanconi syndrome-neonatal hyperinsulinism syndrome MONDO:0015967 Orphanet:544628 Orphanet:183625 monogenic diabetes -MONDO:0034110 atypical Fanconi syndrome-neonatal hyperinsulinism syndrome MONDO:0017182 Orphanet:544628 Orphanet:276525 familial hyperinsulinism -MONDO:0034820 cleft lip and palate-craniofacial dysmorphism-congenital heart defect-hearing loss syndrome MONDO:0015161 Orphanet:508476 Orphanet:102285 multiple congenital anomalies/dysmorphic syndrome without intellectual disability -MONDO:0034823 oral-facial-digital syndrome with short stature and brachymesophalangy MONDO:0005308 Orphanet:508501 Orphanet:363250 ciliopathy -MONDO:0034823 oral-facial-digital syndrome with short stature and brachymesophalangy MONDO:0015375 Orphanet:508501 Orphanet:140997 orofaciodigital syndrome -MONDO:0034989 intellectual disability-cardiac anomalies-short stature-joint laxity syndrome MONDO:0015159 Orphanet:508498 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0034991 intrauterine growth restriction-congenital multiple café-au-lait macules-increased sister chromatid exchange syndrome MONDO:0019289 Orphanet:508512 Orphanet:79375 hyperpigmentation of the skin -MONDO:0035018 frontonasal dysplasia-bifid nose-upper limb anomalies syndrome MONDO:0016643 Orphanet:521308 Orphanet:250 frontonasal dysplasia -MONDO:0035105 diaphragmatic hernia-short bowel-asplenia syndrome MONDO:0043009 Orphanet:527468 Orphanet:471383 hereditary lethal multiple congenital anomalies/dysmorphic syndrome -MONDO:0035151 17q24.2 microdeletion syndrome MONDO:0015159 Orphanet:529962 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0035153 male infertility due to acephalic spermatozoa MONDO:0018394 Orphanet:529970 Orphanet:399808 male infertility with teratozoospermia due to single gene mutation -MONDO:0035161 progressive dementia with neuroserpin inclusion bodies MONDO:0011412 Orphanet:530303 Orphanet:85110 familial encephalopathy with neuroserpin inclusion bodies -MONDO:0035173 9q21.13 microdeletion syndrome MONDO:0016908 Orphanet:531151 Orphanet:262074 partial monosomy of the long arm of chromosome 9 -MONDO:0035312 fibrohistiocytic inflammatory pseudotumor of the liver MONDO:0019528 Orphanet:555434 Orphanet:90003 inflammatory pseudotumor of the liver -MONDO:0035313 lymphoplasmacytic inflammatory pseudotumor of the liver MONDO:0017287 Orphanet:555437 Orphanet:284264 IgG4-related disease -MONDO:0035313 lymphoplasmacytic inflammatory pseudotumor of the liver MONDO:0019528 Orphanet:555437 Orphanet:90003 inflammatory pseudotumor of the liver -MONDO:0035344 acute bilirubin encephalopathy MONDO:0018477 Orphanet:529799 Orphanet:415286 bilirubin encephalopathy -MONDO:0035345 chronic bilirubin encephalopathy MONDO:0018477 Orphanet:529808 Orphanet:415286 bilirubin encephalopathy -MONDO:0035383 FOXG1 syndrome MONDO:0015653 Orphanet:561854 Orphanet:166472 monogenic epilepsy -MONDO:0035401 isolated anencephaly MONDO:0008791 Orphanet:563609 Orphanet:1048 anencephaly 1 -MONDO:0035402 isolated exencephaly MONDO:0008791 Orphanet:563612 Orphanet:1048 anencephaly 1 -MONDO:0035432 POMGNT2-related limb-girdle muscular dystrophy R24 MONDO:0015152 Orphanet:565899 Orphanet:102015 autosomal recessive limb-girdle muscular dystrophy -MONDO:0035432 POMGNT2-related limb-girdle muscular dystrophy R24 MONDO:0016155 Orphanet:565899 Orphanet:207113 qualitative or quantitative defects of protein involved in O-glycosylation of alpha-dystroglycan -MONDO:0035433 calpain-3-related limb-girdle muscular dystrophy D4 MONDO:0015151 Orphanet:565909 Orphanet:102014 muscular dystrophy, limb-girdle, autosomal dominant -MONDO:0035437 CEBPE-associated autoinflammation-immunodeficiency-neutrophil dysfunction syndrome MONDO:0017953 Orphanet:566067 Orphanet:324924 hereditary periodic fever syndrome -MONDO:0035444 acute mast cell leukemia MONDO:0020334 Orphanet:566393 Orphanet:98851 mast cell leukemia -MONDO:0035445 chronic mast cell leukemia MONDO:0020334 Orphanet:566396 Orphanet:98851 mast cell leukemia -MONDO:0035452 mueller-weiss syndrome MONDO:0005380 Orphanet:566943 Orphanet:399158 osteonecrosis -MONDO:0035454 B-cell immunodeficiency-limb anomaly-urogenital malformation syndrome MONDO:0015161 Orphanet:567502 Orphanet:102285 multiple congenital anomalies/dysmorphic syndrome without intellectual disability -MONDO:0035454 B-cell immunodeficiency-limb anomaly-urogenital malformation syndrome MONDO:0016463 Orphanet:567502 Orphanet:229720 syndromic agammaglobulinemia -MONDO:0035459 idiopathic multidrug-resistant nephrotic syndrome MONDO:0031008 Orphanet:567550 Orphanet:567548 nephrotic syndrome, type 24 -MONDO:0035460 idiopathic steroid-resistant nephrotic syndrome with sensitivity to second-line immunosuppressive therapy MONDO:0031008 Orphanet:567552 Orphanet:567548 nephrotic syndrome, type 24 -MONDO:0035473 warts-immunodeficiency-lymphedema-anogenital dysplasia syndrome MONDO:0015356 Orphanet:568056 Orphanet:140162 hereditary neoplastic syndrome -MONDO:0035511 ricin poisoning MONDO:0005570 Orphanet:570470 Orphanet:97992 hematologic disorder -MONDO:0035521 blepharophimosis-ptosis-epicanthus inversus syndrome plus MONDO:0008537 Orphanet:572333 Orphanet:98575 telecanthus -MONDO:0035521 blepharophimosis-ptosis-epicanthus inversus syndrome plus MONDO:0015159 Orphanet:572333 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0035521 blepharophimosis-ptosis-epicanthus inversus syndrome plus MONDO:0016902 Orphanet:572333 Orphanet:262019 partial deletion of the long arm of chromosome 3 MONDO:0035547 predisposition to severe viral infection due to IRF7 deficiency MONDO:0000001 Orphanet:574918 Orphanet:377788 disease MONDO:0035548 autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial jak1 deficiency MONDO:0000001 Orphanet:574957 Orphanet:377788 disease -MONDO:0035605 B-lymphoblastic leukemia/lymphoma with recurrent genetic abnormality MONDO:0020511 Orphanet:585877 Orphanet:99860 precursor B-cell acute lymphoblastic leukemia -MONDO:0035605 B-lymphoblastic leukemia/lymphoma with recurrent genetic abnormality MONDO:0850064 Orphanet:585877 Orphanet:619340 inherited hematologic cancer-predisposing syndrome -MONDO:0035647 childhood-onset Steinert myotonic dystrophy MONDO:0008056 Orphanet:589824 Orphanet:273 myotonic dystrophy type 1 -MONDO:0035648 juvenile-onset Steinert myotonic dystrophy MONDO:0008056 Orphanet:589827 Orphanet:273 myotonic dystrophy type 1 -MONDO:0035649 adult-onset Steinert myotonic dystrophy MONDO:0008056 Orphanet:589830 Orphanet:273 myotonic dystrophy type 1 -MONDO:0035650 late-onset Steinert myotonic dystrophy MONDO:0008056 Orphanet:589833 Orphanet:273 myotonic dystrophy type 1 -MONDO:0035651 choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome MONDO:0015159 Orphanet:589856 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0035660 GNAO1-related developmental delay-seizures-movement disorder spectrum MONDO:0015653 Orphanet:592564 Orphanet:166472 monogenic epilepsy -MONDO:0035661 TRAF7-associated heart defect-digital anomalies-facial dysmorphism-motor and speech delay syndrome MONDO:0015159 Orphanet:592570 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0035694 combined immunodeficiency due to RELA haploinsufficiency MONDO:0018814 Orphanet:596759 Orphanet:480549 non-SCID combined immunodeficiency -MONDO:0035706 SETD2-related microcephaly-severe intellectual disability-multiple congenital anomalies syndrome MONDO:0015159 Orphanet:597743 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0035713 FOXG1 syndrome due to intragenic alteration MONDO:0035383 Orphanet:598164 Orphanet:561854 FOXG1 syndrome -MONDO:0035743 factor V amsterdam bleeding disorder MONDO:0035742 Orphanet:599579 Orphanet:599519 factor V short isoforms-related bleeding disorder -MONDO:0035759 factor V atlanta bleeding disorder MONDO:0035742 Orphanet:600194 Orphanet:599519 factor V short isoforms-related bleeding disorder -MONDO:0035763 idiopathic non-lupus full-house nephropathy MONDO:0019722 Orphanet:567544 Orphanet:93548 glomerular disorder -MONDO:0035775 CCNK-related neurodevelopmental disorder-severe intellectual disability-facial dysmorphism syndrome MONDO:0015159 Orphanet:600668 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0035819 cerebellar hypoplasia-intellectual disability-congenital microcephaly-dystonia-anemia-growth retardation syndrome MONDO:0015159 Orphanet:603448 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0035823 KLHL7-related Bohring-Opitz-like syndrome MONDO:0015159 Orphanet:603689 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0035824 KLHL7-related cold-induced sweating-like syndrome MONDO:0018431 Orphanet:603694 Orphanet:401993 cold-induced sweating syndrome - hyperthermia spectrum -MONDO:0036189 oculogastrointestinal-neurodevelopmental syndrome MONDO:0015159 Orphanet:611201 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0036189 oculogastrointestinal-neurodevelopmental syndrome MONDO:0016073 Orphanet:611201 Orphanet:202948 syndromic microphthalmia -MONDO:0036212 spastic paraparesis-cataracts-speech delay syndrome MONDO:0015087 Orphanet:615938 Orphanet:100979 autosomal dominant complex spastic paraplegia -MONDO:0036218 lethal pontocerebellar hypoplasia-hypotonia-respiratory insufficiency syndrome due to biallelic deletions in the ATAD3 gene cluster MONDO:0016883 Orphanet:615986 Orphanet:261857 partial deletion of the short arm of chromosome 1 -MONDO:0042727 sacrococcygeal teratoma MONDO:0019500 Orphanet:494421 Orphanet:883 extragonadal teratoma -MONDO:0044302 congenital heart defects, dysmorphic facial features, and intellectual developmental disorder MONDO:0015159 Orphanet:646278 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0044323 Rahman syndrome MONDO:0015159 Orphanet:642763 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0044634 retinitis pigmentosa-hearing loss-premature aging-short stature-facial dysmorphism syndrome MONDO:0015159 Orphanet:494439 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0044646 early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome MONDO:0015653 Orphanet:496641 Orphanet:166472 monogenic epilepsy -MONDO:0044649 omphalocele-diaphragmatic hernia-cardiovascular anomalies-radial ray defect syndrome MONDO:0015159 Orphanet:496693 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0044649 omphalocele-diaphragmatic hernia-cardiovascular anomalies-radial ray defect syndrome MONDO:0015161 Orphanet:496693 Orphanet:102285 multiple congenital anomalies/dysmorphic syndrome without intellectual disability -MONDO:0044701 childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder MONDO:0024237 Orphanet:500180 Orphanet:183500 inherited neurodegenerative disorder -MONDO:0044714 mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome MONDO:0100309 Orphanet:502423 Orphanet:183518 hereditary ataxia -MONDO:0044715 metopic ridging-ptosis-facial dysmorphism syndrome MONDO:0015159 Orphanet:502430 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0044717 4q25 proximal deletion syndrome MONDO:0015159 Orphanet:502437 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0044727 pancreatic carcinoma with mixed differentiation MONDO:0005815 Orphanet:506112 Orphanet:506052 pancreatic neuroendocrine neoplasm -MONDO:0044877 paraneoplastic cerebellar degeneration MONDO:0859692 Orphanet:623626 Orphanet:623638 immune-mediated cerebellar ataxia -MONDO:0054669 pontocerebellar hypoplasia, type 11 MONDO:0015159 Orphanet:611247 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0054785 multiple mitochondrial dysfunctions syndrome 6 MONDO:0024237 Orphanet:569290 Orphanet:183500 inherited neurodegenerative disorder -MONDO:0060490 neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies MONDO:0015159 Orphanet:544469 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0060532 congenital heart defects and skeletal malformations syndrome MONDO:0015161 Orphanet:643503 Orphanet:102285 multiple congenital anomalies/dysmorphic syndrome without intellectual disability -MONDO:0060533 microcephaly, short stature, and limb abnormalities MONDO:0035534 Orphanet:572773 Orphanet:572761 DONSON-related microcephaly-short stature-limb abnormalities spectrum -MONDO:0060631 Alkuraya-Kucinskas syndrome MONDO:0015159 Orphanet:610569 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0060631 Alkuraya-Kucinskas syndrome MONDO:0015168 Orphanet:610569 Orphanet:1037 arthrogryposis multiplex congenita -MONDO:0060707 Ververi-Brady syndrome MONDO:0015159 Orphanet:580940 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0100062 developmental and epileptic encephalopathy MONDO:0020070 Orphanet:1934 Orphanet:98257 neonatal epilepsy syndrome -MONDO:0100133 mitochondrial complex I deficiency MONDO:0009637 Orphanet:2609 Orphanet:206966 inborn mitochondrial myopathy -MONDO:0100147 SATB2 associated disorder MONDO:0015159 Orphanet:576278 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0100213 IFAP syndrome with or without BRESHECK syndrome MONDO:0004907 Orphanet:2273 Orphanet:79364 alopecia -MONDO:0100213 IFAP syndrome with or without BRESHECK syndrome MONDO:0017269 Orphanet:2273 Orphanet:281210 X-linked ichthyosis syndrome -MONDO:0100216 DICER1-related tumor predisposition MONDO:0011014 Orphanet:284343 Orphanet:64742 pleuropulmonary blastoma -MONDO:0100216 DICER1-related tumor predisposition MONDO:0015356 Orphanet:284343 Orphanet:140162 hereditary neoplastic syndrome -MONDO:0100244 paroxysmal nocturnal hemoglobinuria MONDO:0017748 Orphanet:447 Orphanet:309515 inborn disorder of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation -MONDO:0100253 Roberts-SC phocomelia syndrome MONDO:0015159 Orphanet:3103 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0100309 hereditary ataxia MONDO:0000437 Orphanet:183518 Orphanet:102002 cerebellar ataxia -MONDO:0100347 carcinoid syndrome MONDO:0019496 Orphanet:100093 Orphanet:877 neuroendocrine neoplasm -MONDO:0100349 COACH syndrome MONDO:0015159 Orphanet:1454 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0100349 COACH syndrome MONDO:0022410 Orphanet:1454 Orphanet:156165 retinal ciliopathy -MONDO:0100367 port-wine nevi-mega cisterna magna-hydrocephalus syndrome MONDO:0015161 Orphanet:2703 Orphanet:102285 multiple congenital anomalies/dysmorphic syndrome without intellectual disability -MONDO:0600030 B-cell acute lymphoblastic leukemia with t(1;19)(q23;p13.3); E2A-PBX1 (TCF3-PBX1) MONDO:0035605 Orphanet:585956 Orphanet:585877 B-lymphoblastic leukemia/lymphoma with recurrent genetic abnormality -MONDO:0800025 Teebi hypertelorism syndrome 1 MONDO:0015161 Orphanet:1519 Orphanet:102285 multiple congenital anomalies/dysmorphic syndrome without intellectual disability -MONDO:0800025 Teebi hypertelorism syndrome 1 MONDO:0016643 Orphanet:1519 Orphanet:250 frontonasal dysplasia -MONDO:0800042 restrictive dermopathy 1 MONDO:0015159 Orphanet:1662 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0800044 congenital disorder of deglycosylation 1 MONDO:0019296 Orphanet:404454 Orphanet:79382 subcutaneous tissue disorder -MONDO:0800436 craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development 1 MONDO:0015159 Orphanet:1394 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0800438 developmental delay with short stature, dysmorphic facial features, and sparse hair 1 MONDO:0015159 Orphanet:459061 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0800445 Birt-Hogg-Dube syndrome 1 MONDO:0005308 Orphanet:122 Orphanet:363250 ciliopathy -MONDO:0850001 congenital neuronal ceroid lipofuscinosis MONDO:0020074 Orphanet:168486 Orphanet:98261 progressive myoclonus epilepsy -MONDO:0850008 anterior segment developmental abnormality with extraocular manifestations MONDO:0019503 Orphanet:519276 Orphanet:88632 anterior segment dysgenesis -MONDO:0850013 twin anemia-polycythemia sequence MONDO:0005570 Orphanet:617294 Orphanet:97992 hematologic disorder -MONDO:0850053 F12-associated cold autoinflammatory syndrome MONDO:0016168 Orphanet:617919 Orphanet:208650 cryopyrin-associated periodic syndrome -MONDO:0850054 hemophilia B leyden MONDO:0010604 Orphanet:617930 Orphanet:98879 hemophilia B -MONDO:0850059 hereditary persistence of fetal hemoglobin-intellectual disability syndrome MONDO:0015159 Orphanet:619233 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0850059 hereditary persistence of fetal hemoglobin-intellectual disability syndrome MONDO:0019050 Orphanet:619233 Orphanet:68364 inherited hemoglobinopathy -MONDO:0850065 neonatal-onset severe multisystemic autoinflammatory disease with increased IL18 MONDO:0015542 Orphanet:619363 Orphanet:158041 secondary hemophagocytic lymphohistiocytosis -MONDO:0850066 SAMD9L-associated autoinflammatory syndrome MONDO:0957408 Orphanet:619367 Orphanet:481671 type 1 interferonopathy of childhood -MONDO:0850067 immune deficiency due to impaired neutrophil phagocytosis and migration MONDO:0015978 Orphanet:619941 Orphanet:183681 functional neutrophil defect -MONDO:0850068 early-onset autoimmunity-autoinflammation-immunodeficiency syndrome MONDO:0016537 Orphanet:619948 Orphanet:238510 lymphoproliferative syndrome -MONDO:0850069 familial hyperinflammatory lymphoproliferative immunodeficiency MONDO:0016537 Orphanet:619953 Orphanet:238510 lymphoproliferative syndrome -MONDO:0850070 CADINS disease MONDO:0018037 Orphanet:619972 Orphanet:331223 hyper-IgE syndrome -MONDO:0850071 developmental delay-immunodeficiency-leukoencephalopathy-hypohomocysteinemia syndrome MONDO:0019222 Orphanet:619979 Orphanet:79173 inborn disorder of methionine cycle and sulfur amino acid metabolism -MONDO:0850073 non-syndromic unicoronal craniosynostosis MONDO:0850072 Orphanet:620102 Orphanet:620096 non-syndromic unisutural craniosynostosis -MONDO:0850074 non-syndromic unilambdoid craniosynostosis MONDO:0850072 Orphanet:620113 Orphanet:620096 non-syndromic unisutural craniosynostosis -MONDO:0850075 non-syndromic unifrontosphenoidal craniosynostosis MONDO:0850072 Orphanet:620139 Orphanet:620096 non-syndromic unisutural craniosynostosis -MONDO:0850076 non-syndromic unisquamosal craniosynostosis MONDO:0850072 Orphanet:620146 Orphanet:620096 non-syndromic unisutural craniosynostosis -MONDO:0850077 non-syndromic multisutural craniosynostosis MONDO:0015337 Orphanet:620152 Orphanet:139390 isolated craniosynostosis -MONDO:0850078 non-syndromic non-specific multisutural craniosynostosis MONDO:0850077 Orphanet:620158 Orphanet:620152 non-syndromic multisutural craniosynostosis -MONDO:0850079 non-syndromic bilambdoid craniosynostosis MONDO:0850077 Orphanet:620178 Orphanet:620152 non-syndromic multisutural craniosynostosis -MONDO:0850080 non-syndromic unicoronal and sagittal craniosynostosis MONDO:0850077 Orphanet:620186 Orphanet:620152 non-syndromic multisutural craniosynostosis -MONDO:0850081 non-syndromic metopic and sagittal craniosynostosis MONDO:0850077 Orphanet:620192 Orphanet:620152 non-syndromic multisutural craniosynostosis -MONDO:0850082 non-syndromic bicoronal and metopic craniosynostosis MONDO:0850077 Orphanet:620198 Orphanet:620152 non-syndromic multisutural craniosynostosis -MONDO:0850083 non-syndromic bicoronal and sagittal craniosynostosis MONDO:0850077 Orphanet:620205 Orphanet:620152 non-syndromic multisutural craniosynostosis -MONDO:0850084 non-syndromic pansynostosis MONDO:0850077 Orphanet:620212 Orphanet:620152 non-syndromic multisutural craniosynostosis -MONDO:0850087 primary hypomagnesemia-generalized seizures-intellectual disability-obesity syndrome MONDO:0015962 Orphanet:620363 Orphanet:183592 inherited renal tubular disease -MONDO:0850087 primary hypomagnesemia-generalized seizures-intellectual disability-obesity syndrome MONDO:0017765 Orphanet:620363 Orphanet:309848 disorder of magnesium transport -MONDO:0850089 Gitelman-like kidney tubulopathy due to mitochondrial DNA mutation MONDO:0015962 Orphanet:620371 Orphanet:183592 inherited renal tubular disease -MONDO:0850090 fibrosis-neurodegeneration-cerebral angiomatosis syndrome MONDO:0017019 Orphanet:621758 Orphanet:264694 interstitial lung disease specific to infancy -MONDO:0850090 fibrosis-neurodegeneration-cerebral angiomatosis syndrome MONDO:0024237 Orphanet:621758 Orphanet:183500 inherited neurodegenerative disorder -MONDO:0850095 X-linked severe syndromic thoracic aortic aneurysm and dissection MONDO:0017310 Orphanet:622925 Orphanet:284993 Marfan and Marfan-related disorder -MONDO:0850096 SBDS-related severe neonatal spondylometaphyseal dysplasia MONDO:0019694 Orphanet:622934 Orphanet:93434 spondylodysplastic dysplasia -MONDO:0850097 autoimmune limbic encephalitis MONDO:0018215 Orphanet:623615 Orphanet:36388 paraneoplastic neurologic syndrome -MONDO:0850099 MIR140-related spondyloepiphyseal dysplasia MONDO:0019695 Orphanet:623695 Orphanet:93436 acromelic dysplasia -MONDO:0850102 non-specific autoimmune supratentorial encephalitis with characteristic antibodies MONDO:0018215 Orphanet:624166 Orphanet:36388 paraneoplastic neurologic syndrome -MONDO:0850102 non-specific autoimmune supratentorial encephalitis with characteristic antibodies MONDO:0020640 Orphanet:624166 Orphanet:622014 autoimmune encephalitis -MONDO:0850103 non-specific autoimmune supratentorial encephalitis without characteristic antibodies MONDO:0018215 Orphanet:624178 Orphanet:36388 paraneoplastic neurologic syndrome -MONDO:0850103 non-specific autoimmune supratentorial encephalitis without characteristic antibodies MONDO:0020640 Orphanet:624178 Orphanet:622014 autoimmune encephalitis -MONDO:0850104 paraneoplastic isolated brainstem encephalitis MONDO:0018215 Orphanet:624190 Orphanet:36388 paraneoplastic neurologic syndrome -MONDO:0850104 paraneoplastic isolated brainstem encephalitis MONDO:0020640 Orphanet:624190 Orphanet:622014 autoimmune encephalitis -MONDO:0850105 non-specific autoimmune brainstem encephalitis with characteristic antibodies MONDO:0020640 Orphanet:624199 Orphanet:622014 autoimmune encephalitis -MONDO:0850106 non-specific autoimmune brainstem encephalitis without characteristic antibodies MONDO:0020640 Orphanet:624216 Orphanet:622014 autoimmune encephalitis -MONDO:0850107 postinfectious cerebellitis MONDO:0859692 Orphanet:624244 Orphanet:623638 immune-mediated cerebellar ataxia -MONDO:0850108 non-specific autoimmune cerebellar ataxia with characteristic antibodies MONDO:0859692 Orphanet:624259 Orphanet:623638 immune-mediated cerebellar ataxia -MONDO:0850109 non-specific autoimmune cerebellar ataxia without characteristic antibodies MONDO:0859692 Orphanet:624268 Orphanet:623638 immune-mediated cerebellar ataxia -MONDO:0859003 PAICS deficiency MONDO:0043009 Orphanet:633099 Orphanet:471383 hereditary lethal multiple congenital anomalies/dysmorphic syndrome -MONDO:0859007 mosaic Legius syndrome MONDO:0021060 Orphanet:634511 Orphanet:536391 RASopathy -MONDO:0859139 blepharophimosis-impaired intellectual development syndrome MONDO:0017393 Orphanet:637013 Orphanet:293642 blepharophimosis - intellectual disability syndrome -MONDO:0859692 immune-mediated cerebellar ataxia MONDO:0020640 Orphanet:623638 Orphanet:622014 autoimmune encephalitis -MONDO:0957403 periodic fever syndrome of childhood MONDO:0957018 Orphanet:324939 Orphanet:319719 autoinflammatory syndrome of childhood -MONDO:0957404 pyogenic autoinflammatory syndrome of childhood MONDO:0957018 Orphanet:324942 Orphanet:319719 autoinflammatory syndrome of childhood -MONDO:0957405 granulomatous autoinflammatory syndrome of childhood MONDO:0957018 Orphanet:324950 Orphanet:319719 autoinflammatory syndrome of childhood -MONDO:0957408 type 1 interferonopathy of childhood MONDO:0957018 Orphanet:481671 Orphanet:319719 autoinflammatory syndrome of childhood -MONDO:0957423 immunotherapy induced hypophysitis MONDO:0019832 Orphanet:641350 Orphanet:95502 acquired pituitary hormone deficiency -MONDO:0957427 B-lymphoblastic leukemia/lymphoma with t(7;9)(q11.2;p13.2) MONDO:0035605 Orphanet:641372 Orphanet:585877 B-lymphoblastic leukemia/lymphoma with recurrent genetic abnormality -MONDO:0957428 B-lymphoblastic leukemia/lymphoma with t(17;19) MONDO:0035605 Orphanet:641375 Orphanet:585877 B-lymphoblastic leukemia/lymphoma with recurrent genetic abnormality -MONDO:0957433 primary pulmonary vein stenosis MONDO:0017864 Orphanet:642071 Orphanet:3188 congenital pulmonary veins atresia or stenosis -MONDO:0957442 autosomal recessive ataxia due to PEX16 deficiency MONDO:0019053 Orphanet:642954 Orphanet:68373 peroxisomal disease -MONDO:0957442 autosomal recessive ataxia due to PEX16 deficiency MONDO:0020044 Orphanet:642954 Orphanet:98096 autosomal recessive metabolic cerebellar ataxia -MONDO:0957443 autosomal recessive ataxia due to PEX2 deficiency MONDO:0019053 Orphanet:642965 Orphanet:68373 peroxisomal disease -MONDO:0957443 autosomal recessive ataxia due to PEX2 deficiency MONDO:0020044 Orphanet:642965 Orphanet:98096 autosomal recessive metabolic cerebellar ataxia -MONDO:0957473 craniosynostosis-facial dysmorphism-chiari-1 malformation-developmental and language delay syndrome MONDO:0015338 Orphanet:647681 Orphanet:139393 syndromic craniosynostosis -MONDO:8000012 neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset 1 MONDO:0015159 Orphanet:456312 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability diff --git a/src/ontology/reports/sync-subClassOf.direct-in-mondo-only.tsv b/src/ontology/reports/sync-subClassOf.direct-in-mondo-only.tsv index a9cce700..58966c67 100644 --- a/src/ontology/reports/sync-subClassOf.direct-in-mondo-only.tsv +++ b/src/ontology/reports/sync-subClassOf.direct-in-mondo-only.tsv @@ -1,2856 +1,1783 @@ subject_id object_id in_any_source subject_label object_label in_icd10cm in_ordo in_ncit in_icd10who in_gard in_omim in_doid -MONDO:0000004 MONDO:0002816 True adrenocortical insufficiency adrenal cortex disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0000062 MONDO:0021129 True isolated microphthalmia microphthalmia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0000110 MONDO:0015411 True bifid nose facial cleft UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000127 MONDO:0019695 True geleophysic dysplasia acromelic dysplasia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000133 MONDO:0006025 True immunodeficiency-centromeric instability-facial anomalies syndrome autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0000136 MONDO:0018855 True keratosis follicularis spinulosa decalvans keratosis pilaris atrophicans UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0000141 MONDO:0015356 True mosaic variegated aneuploidy syndrome hereditary neoplastic syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000141 MONDO:0019040 True mosaic variegated aneuploidy syndrome chromosomal disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0000022 MONDO:0024290 True nocturnal enuresis enuresis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0000087 MONDO:0002320 True polymicrogyria congenital nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0000147 MONDO:0021075 True polyposis neoplastic polyp UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000153 MONDO:0019512 True transposition of the great arteries congenital heart malformation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000170 MONDO:0016764 True microphthalmia, isolated, with coloboma isolated anophthalmia-microphthalmia syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000171 MONDO:0018276 True muscular dystrophy-dystroglycanopathy, type A muscular dystrophy-dystroglycanopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0000172 MONDO:0018276 True muscular dystrophy-dystroglycanopathy, type B muscular dystrophy-dystroglycanopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0000179 MONDO:0015148 True Neu-Laxova syndrome lissencephaly type 3 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000179 MONDO:0015159 True Neu-Laxova syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000193 MONDO:0015898 True cortisone reductase deficiency adrenogenital syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000208 MONDO:0800450 True microcephaly, short stature, and impaired glucose metabolism 1 microcephaly, short stature, and impaired glucose metabolism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0000209 MONDO:0015168 True prenatal-onset spinal muscular atrophy with congenital bone fractures arthrogryposis multiplex congenita UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING -MONDO:0000209 MONDO:0024257 True prenatal-onset spinal muscular atrophy with congenital bone fractures hereditary motor neuron disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000214 MONDO:0019052 True hypermanganesemia with dystonia inborn errors of metabolism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0000222 MONDO:0001027 True seminal vesicle acute gonorrhea gonococcal seminal vesiculitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0000225 MONDO:0016003 True human monocytic ehrlichiosis ehrlichiosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000159 MONDO:0003225 True bone marrow failure syndrome bone marrow disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0000190 MONDO:0007263 True ventricular fibrillation cardiac rhythm disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0000226 MONDO:0005066 True mineral metabolism disease metabolic disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000227 MONDO:0001195 True African tick-bite fever spotted fever UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0000232 MONDO:0001195 True Flinders island spotted fever spotted fever UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0000233 MONDO:0001195 True Japanese spotted fever spotted fever UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0000234 MONDO:0001195 True Rickettsia parkeri spotted fever spotted fever UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0000236 MONDO:0001701 True oropharyngeal anthrax gastrointestinal anthrax UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0000239 MONDO:0000308 True adiaspiromycosis primary systemic mycosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0000241 MONDO:0006873 True Keshan disease nutritional deficiency disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0000242 MONDO:0004678 True tinea barbae dermatophytosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0000243 MONDO:0004678 True ectothrix infectious disease dermatophytosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0000244 MONDO:0004678 True endothrix infectious disease dermatophytosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0000245 MONDO:0001461 True tinea imbricata tinea corporis UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0000249 MONDO:0001673 True secretory diarrhea diarrheal disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0000252 MONDO:0001673 True inflammatory diarrhea diarrheal disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0000254 MONDO:0002041 True cutaneous mycosis fungal infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0000256 MONDO:0002041 True systemic mycosis fungal infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0000257 MONDO:0001673 True acute diarrhea diarrheal disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0000259 MONDO:0005502 True asymptomatic dengue dengue disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0000262 MONDO:0004795 True otomycosis otitis externa UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0000265 MONDO:0005275 True aspiration pneumonia lung disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0000266 MONDO:0005657 True pulmonary aspergilloma aspergillosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0000270 MONDO:0005087 True lower respiratory tract disorder respiratory system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0000271 MONDO:0006002 True tuberculous salpingitis urogenital tuberculosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0000273 MONDO:0019376 True Kunjin virus infectous disease West-Nile encephalitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0000282 MONDO:0005108 True Whitewater Arroyo hemorrhagic fever viral infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0000283 MONDO:0005784 True Hantavirus hemorrhagic fever with renal syndrome, Seoul virus type hantavirus hemorrhagic fever with renal syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0000284 MONDO:0005784 True Hantavirus hemorrhagic fever with renal syndrome, Puumala virus type hantavirus hemorrhagic fever with renal syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0000286 MONDO:0006011 True Epstein-Barr virus hepatitis viral hepatitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0000288 MONDO:0005154 True polycystic echinococcosis liver disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0000288 MONDO:0005738 True polycystic echinococcosis echinococcosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0000290 MONDO:0002428 True primary amebic meningoencephalitis protozoa infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0000291 MONDO:0002428 True granulomatous amebic encephalitis protozoa infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0000295 MONDO:0004664 True acanthocephaliasis helminthiasis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0000303 MONDO:0000255 True conidiobolomycosis subcutaneous mycosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0000307 MONDO:0005135 True parasitic Ichthyosporea infectious disease parasitic infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0000308 MONDO:0000256 True primary systemic mycosis systemic mycosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0000309 MONDO:0004892 True aniseikonia refractive error UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0000310 MONDO:0017881 True Alkhurma hemorrhagic fever Kyasanur forest disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0000313 MONDO:0002319 True hypophosphatemia phosphorus metabolism disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0000314 MONDO:0005113 True primary bacterial infectious disease bacterial infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0000315 MONDO:0005113 True commensal bacterial infectious disease bacterial infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0000316 MONDO:0005113 True opportunistic bacterial infectious disease bacterial infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0000320 MONDO:0018077 True glandular tularemia tularemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0000321 MONDO:0018077 True typhoidal tularemia tularemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0000327 MONDO:0000314 True Buruli ulcer disease primary bacterial infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0000328 MONDO:0002319 True hyperphosphatemia phosphorus metabolism disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0000330 MONDO:0001246 True endemic typhus typhus UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0000331 MONDO:0001195 True Rickettsia helvetica spotted fever spotted fever UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0000332 MONDO:0000314 True sennetsu fever primary bacterial infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0000333 MONDO:0005714 True early congenital syphilis congenital syphilis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0000335 MONDO:0004944 True parenchymatous neurosyphilis neurosyphilis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0000336 MONDO:0004944 True meningovascular neurosyphilis neurosyphilis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0000337 MONDO:0005108 True exanthema subitum viral infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0000338 MONDO:0004651 True variola major infectious disease smallpox UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0000339 MONDO:0000341 True spinal polio paralytic poliomyelitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0000340 MONDO:0000341 True bulbospinal polio paralytic poliomyelitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0000341 MONDO:0017373 True paralytic poliomyelitis poliomyelitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0000346 MONDO:0005784 True Hantavirus hemorrhagic fever with renal syndrome, Dobrava-Belgrade virus type hantavirus hemorrhagic fever with renal syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0000351 MONDO:0004736 True disorder of methionine catabolism inborn disorder of amino acid metabolism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0000355 MONDO:0019950 True Ullrich congenital muscular dystrophy congenital muscular dystrophy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0000359 MONDO:0000812 True spondylocostal dysostosis vertebral column disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0000359 MONDO:0018234 True spondylocostal dysostosis dysostosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0000363 MONDO:0004497 True gummatous syphilis tertiary syphilis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0000368 MONDO:0018076 True extrapulmonary tuberculosis tuberculosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0000369 MONDO:0000368 True abdominal tuberculosis extrapulmonary tuberculosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0000371 MONDO:0004647 True oral cavity carcinoma in situ in situ carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000327 MONDO:0020590 True Buruli ulcer disease mycobacterial infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0000334 MONDO:0006869 True multinodular goiter nodular goiter UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0000337 MONDO:0005108 True exanthema subitum viral infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0000359 MONDO:0018234 True spondylocostal dysostosis dysostosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0000365 MONDO:0020366 True primary congenital glaucoma congenital glaucoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0000371 MONDO:0004647 True oral cavity carcinoma in situ in situ carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0000371 MONDO:0044925 True oral cavity carcinoma in situ oral cavity carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000372 MONDO:0004647 True pharynx carcinoma in situ in situ carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000372 MONDO:0004647 True pharynx carcinoma in situ in situ carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0000372 MONDO:0021345 True pharynx carcinoma in situ carcinoma of pharynx UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000373 MONDO:0004647 True gall bladder carcinoma in situ in situ carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0000376 MONDO:0004992 True respiratory system cancer cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0000376 MONDO:0005087 True respiratory system cancer respiratory system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0000377 MONDO:0006266 True malignant Leydig cell tumor Leydig cell tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0000378 MONDO:0002696 True malignant Sertoli cell tumor Sertoli cell tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0000380 MONDO:0020669 True paranasal sinus carcinoma paranasal sinus cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0000380 MONDO:0056819 True paranasal sinus carcinoma nasal cavity and paranasal sinus carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000381 MONDO:0005221 True infiltrating renal pelvis transitional cell carcinoma renal pelvis urothelial carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0000382 MONDO:0005087 True respiratory system benign neoplasm respiratory system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0000382 MONDO:0005165 True respiratory system benign neoplasm benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0000383 MONDO:0005165 True benign reproductive system neoplasm benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000383 MONDO:0005165 True benign reproductive system neoplasm benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0000383 MONDO:0006054 True benign reproductive system neoplasm reproductive system neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000384 MONDO:0004180 True bladder benign neoplasm benign urinary system neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000384 MONDO:0004180 True bladder benign neoplasm benign urinary system neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0000384 MONDO:0004987 True bladder benign neoplasm urinary bladder neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000385 MONDO:0004335 True benign digestive system neoplasm digestive system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0000385 MONDO:0005165 True benign digestive system neoplasm benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000385 MONDO:0004335 True benign digestive system neoplasm digestive system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0000385 MONDO:0005165 True benign digestive system neoplasm benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0000385 MONDO:0021223 True benign digestive system neoplasm digestive system neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0000386 MONDO:0024503 True digestive system neuroendocrine tumor, grade 1/2 digestive system neuroendocrine neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000387 MONDO:0001245 True hypochromic microcytic anemia microcytic anemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0000389 MONDO:0005516 True atelosteogenesis osteochondrodysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0000390 MONDO:0003004 True vitelliform macular dystrophy macular degeneration UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0000393 MONDO:0000408 True partial fetal alcohol syndrome fetal alcohol spectrum disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0000395 MONDO:0000408 True alcohol-related birth defect fetal alcohol spectrum disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0000396 MONDO:0006497 True spastic cerebral palsy cerebral palsy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0000397 MONDO:0006497 True ataxic cerebral palsy cerebral palsy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0000400 MONDO:0006497 True mixed cerebral palsy cerebral palsy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000390 MONDO:0020242 True vitelliform macular dystrophy hereditary macular dystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0000396 MONDO:0006497 True spastic cerebral palsy cerebral palsy UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0000397 MONDO:0006497 True ataxic cerebral palsy cerebral palsy UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0000400 MONDO:0006497 True mixed cerebral palsy cerebral palsy UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0000402 MONDO:0002120 True small cell carcinoma neuroendocrine carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0000405 MONDO:0005814 True anal canal cancer intestinal cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0000407 MONDO:0006294 True malignant pleural solitary fibrous tumor pleural cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0000408 MONDO:0000592 True fetal alcohol spectrum disorder specific developmental disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0000411 MONDO:0005027 True electroclinical syndrome epilepsy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0000412 MONDO:0000411 True neonatal period electroclinical syndrome electroclinical syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0000413 MONDO:0000411 True infancy electroclinical syndrome electroclinical syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0000414 MONDO:0000411 True childhood electroclinical syndrome electroclinical syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0000415 MONDO:0000411 True adolescence-adult electroclinical syndrome electroclinical syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0000417 MONDO:0000414 True early onset absence epilepsy childhood electroclinical syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0000417 MONDO:0850093 True early onset absence epilepsy absence epilepsy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0000424 MONDO:0005528 True inborn vitamin B12 deficiency inborn vitamin metabolic disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0000425 MONDO:0003847 True X-linked disease hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0000426 MONDO:0000429 True autosomal dominant disease autosomal genetic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0000428 MONDO:0003847 True Y-linked disease hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0000429 MONDO:0003847 True autosomal genetic disease hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000409 MONDO:0021166 True chorioamnionitis inflammatory disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0000410 MONDO:0024575 True funisitis pregnancy disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0000425 MONDO:0003847 True X-linked disease hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0000430 MONDO:0005169 True mature T-cell and NK-cell non-Hodgkin lymphoma neoplasm of mature T-cells or NK-cells UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000430 MONDO:0015760 True mature T-cell and NK-cell non-Hodgkin lymphoma T-cell non-Hodgkin lymphoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000430 MONDO:0015760 True mature T-cell and NK-cell non-Hodgkin lymphoma T-cell non-Hodgkin lymphoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0000432 MONDO:0004095 True lymphoplasmacytic lymphoma B-cell neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000437 MONDO:0002427 True cerebellar ataxia cerebellar disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0000446 MONDO:0005516 True midface dysplasia osteochondrodysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0000447 MONDO:0000426 True autosomal dominant polycystic liver disease autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0000447 MONDO:0005154 True autosomal dominant polycystic liver disease liver disorder UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000437 MONDO:0005395 True cerebellar ataxia movement disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0000447 MONDO:0005154 True autosomal dominant polycystic liver disease liver disorder UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0000448 MONDO:0002366 True paraganglioma autonomic nervous system neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0000448 MONDO:0003847 True paraganglioma hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0000448 MONDO:0019496 True paraganglioma neuroendocrine neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0000453 MONDO:0000992 True short QT syndrome heart conduction disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0000456 MONDO:0004736 True cerebral creatine deficiency syndrome inborn disorder of amino acid metabolism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0000456 MONDO:0019243 True cerebral creatine deficiency syndrome inborn disorder of energy metabolism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000457 MONDO:0018177 True classical glioblastoma glioblastoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0000458 MONDO:0018177 True proneural glioblastoma glioblastoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0000459 MONDO:0018177 True mesenchymal glioblastoma glioblastoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0000460 MONDO:0018177 True neural glioblastoma glioblastoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0000463 MONDO:0006025 True Ochoa syndrome autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0000465 MONDO:0000992 True atrioventricular block heart conduction disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0000466 MONDO:0000465 True first-degree atrioventricular block atrioventricular block UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0000467 MONDO:0000465 True second-degree atrioventricular block atrioventricular block UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0000468 MONDO:0000465 True third-degree atrioventricular block atrioventricular block UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0000469 MONDO:0000992 True sinoatrial node disorder heart conduction disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0000470 MONDO:0005267 True endocardium disorder heart disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0000471 MONDO:0002869 True tricuspid valve disorder heart valve disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0000473 MONDO:0005385 True arterial disorder vascular disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0000476 MONDO:0015494 True generalized dystonia isolated dystonia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000477 MONDO:0003441 True focal dystonia dystonic disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0000478 MONDO:0003441 True multifocal dystonia dystonic disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0000479 MONDO:0003441 True segmental dystonia dystonic disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0000480 MONDO:0000477 True anismus focal dystonia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0000481 MONDO:0000477 True cervical dystonia focal dystonia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0000482 MONDO:0000477 True focal hand dystonia focal dystonia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0000483 MONDO:0000477 True oculogyric crisis focal dystonia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0000485 MONDO:0000477 True spasmodic dystonia focal dystonia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0000486 MONDO:0000477 True craniofacial dystonia focal dystonia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0000487 MONDO:0000478 True hemidystonia multifocal dystonia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0000489 MONDO:0005560 True diabetic encephalopathy brain disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0000491 MONDO:0005053 True limb ischemia ischemic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0000492 MONDO:0000945 True chronic venous insufficiency venous insufficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0000495 MONDO:0000592 True oppositional defiant disorder specific developmental disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0000496 MONDO:0006032 True hemorrhagic cystitis cystitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0000497 MONDO:0002654 True pyometritis uterine disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0000498 MONDO:0006649 True arteritic anterior ischemic optic neuropathy anterior ischemic optic neuropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0000499 MONDO:0006649 True non-arteritic anterior ischemic optic neuropathy anterior ischemic optic neuropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0000500 MONDO:0004631 True tongue squamous cell carcinoma tongue cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000457 MONDO:0018177 True classical glioblastoma glioblastoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0000458 MONDO:0018177 True proneural glioblastoma glioblastoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0000459 MONDO:0018177 True mesenchymal glioblastoma glioblastoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0000460 MONDO:0018177 True neural glioblastoma glioblastoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0000466 MONDO:0007263 True first-degree atrioventricular block cardiac rhythm disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0000467 MONDO:0007263 True second-degree atrioventricular block cardiac rhythm disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0000468 MONDO:0007263 True third-degree atrioventricular block cardiac rhythm disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0000471 MONDO:0002869 True tricuspid valve disorder heart valve disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0000473 MONDO:0005385 True arterial disorder vascular disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0000496 MONDO:0006032 True hemorrhagic cystitis cystitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0000497 MONDO:0021166 True pyometritis inflammatory disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0000500 MONDO:0004631 True tongue squamous cell carcinoma tongue cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0000500 MONDO:0004958 True tongue squamous cell carcinoma oral cavity squamous cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0000502 MONDO:0004972 True villous adenoma adenoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000502 MONDO:0004972 True villous adenoma adenoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0000503 MONDO:0003218 True lung adenocarcinoma in situ adenocarcinoma in situ UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0000503 MONDO:0004660 True lung adenocarcinoma in situ lung carcinoma in situ UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0000503 MONDO:0005061 True lung adenocarcinoma in situ lung adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0000507 MONDO:0002254 True inclusion body myopathy with Paget disease of bone and frontotemporal dementia syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0000507 MONDO:0016112 True inclusion body myopathy with Paget disease of bone and frontotemporal dementia hereditary inclusion-body myopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000508 MONDO:0001071 True syndromic intellectual disability intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0000509 MONDO:0001071 True non-syndromic intellectual disability intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0000513 MONDO:0000631 True bone ameloblastoma bone benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0000514 MONDO:0002415 True bone squamous cell carcinoma bone carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0000514 MONDO:0005096 True bone squamous cell carcinoma squamous cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0000515 MONDO:0002129 True bone chondrosarcoma bone cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0000515 MONDO:0008977 True bone chondrosarcoma chondrosarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0000516 MONDO:0000631 True phalanx chondroma bone benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0000516 MONDO:0002360 True phalanx chondroma chondroma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0000517 MONDO:0007959 True brain stem medulloblastoma medulloblastoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0000518 MONDO:0000812 True sacrum chordoma vertebral column disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0000518 MONDO:0002894 True sacrum chordoma spinal chordoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0000519 MONDO:0002544 True corpus callosum oligodendroglioma brain oligodendroglioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0000520 MONDO:0001952 True parietal lobe ependymal tumor parietal lobe cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0000521 MONDO:0004669 True salivary gland carcinoma salivary gland cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0000524 MONDO:0015864 True mixed extragonadal germ cell cancer mixed germ cell tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0000525 MONDO:0005694 True cecum villous adenoma cecal neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000521 MONDO:0004669 True salivary gland carcinoma salivary gland cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0000525 MONDO:0005694 True cecum villous adenoma cecal neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0000525 MONDO:0021271 True cecum villous adenoma villous adenoma of colon UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0000527 MONDO:0005484 True colon adenoma colorectal adenoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0000530 MONDO:0005484 True rectum adenoma colorectal adenoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0000532 MONDO:0003438 True lung combined type small cell adenocarcinoma combined small cell lung carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0000534 MONDO:0003036 True trachea mucoepidermoid carcinoma mucoepidermoid carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0000536 MONDO:0005517 True pharyngeal squamous cell carcinoma pharynx cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000536 MONDO:0005517 True pharyngeal squamous cell carcinoma pharynx cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0000536 MONDO:0010150 True pharyngeal squamous cell carcinoma head and neck squamous cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0000536 MONDO:0021345 True pharyngeal squamous cell carcinoma carcinoma of pharynx UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000539 MONDO:0003939 True striated muscle rhabdoid tumor muscle tissue disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0000539 MONDO:0005864 True striated muscle rhabdoid tumor muscle cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0000540 MONDO:0002995 True small intestinal neuroendocrine tumor G1 small intestine neuroendocrine tumor, well differentiated, low or intermediate grade UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0000540 MONDO:0021533 True small intestinal neuroendocrine tumor G1 intestinal neuroendocrine tumor G1 UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0000541 MONDO:0003198 True jejunal adenocarcinoma small intestine adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0000541 MONDO:0006815 True jejunal adenocarcinoma jejunal cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0000543 MONDO:0021068 True ovarian melanoma ovarian neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0000544 MONDO:0006320 True mucosal melanoma non-cutaneous melanoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000548 MONDO:0018364 True ovarian clear cell cancer malignant epithelial tumor of ovary UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000548 MONDO:0018364 True ovarian clear cell cancer malignant epithelial tumor of ovary UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0000548 MONDO:0021144 True ovarian clear cell cancer ovarian clear cell tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000549 MONDO:0002749 True cervical neuroblastoma extracranial neuroblastoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0000550 MONDO:0021072 True extra-adrenal sympathetic paraganglioma sympathetic paraganglioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0000552 MONDO:0004988 True breast lobular carcinoma breast adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0000553 MONDO:0006003 True uterine corpus endometrial carcinoma uterine corpus cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0000554 MONDO:0004259 True endocervical adenocarcinoma endocervical carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0000554 MONDO:0005153 True endocervical adenocarcinoma cervical adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0000563 MONDO:0020380 True GRID2-related autosomal dominant spinocerebellar ataxia autosomal dominant cerebellar ataxia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0000565 MONDO:0005025 True infective endocarditis endocarditis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0000565 MONDO:0005550 True infective endocarditis infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0000568 MONDO:0002602 True autoimmune disorder of central nervous system central nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0000568 MONDO:0002977 True autoimmune disorder of central nervous system autoimmune disorder of the nervous system UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0000569 MONDO:0005151 True autoimmune disorder of endocrine system endocrine system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0000569 MONDO:0007179 True autoimmune disorder of endocrine system autoimmune disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0000572 MONDO:0015974 True recombinase activating gene 1 deficiency severe combined immunodeficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0000573 MONDO:0015974 True recombinase activating gene 2 deficiency severe combined immunodeficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0000583 MONDO:0002211 True immunoglobulin beta deficiency B cell deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0000584 MONDO:0015977 True B cell linker protein deficiency agammaglobulinemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0000586 MONDO:0007179 True autoimmune disorder of exocrine system autoimmune disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0000587 MONDO:0007179 True autoimmune disease of ear, nose and throat autoimmune disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0000588 MONDO:0004335 True autoimmune disorder of gastrointestinal tract digestive system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0000588 MONDO:0007179 True autoimmune disorder of gastrointestinal tract autoimmune disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0000589 MONDO:0002081 True autoimmune disorder of musculoskeletal system musculoskeletal system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0000589 MONDO:0007179 True autoimmune disorder of musculoskeletal system autoimmune disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0000590 MONDO:0002977 True autoimmune disorder of peripheral nervous system autoimmune disorder of the nervous system UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0000590 MONDO:0003620 True autoimmune disorder of peripheral nervous system peripheral nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0000591 MONDO:0004994 True intrinsic cardiomyopathy cardiomyopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0000592 MONDO:0005503 True specific developmental disorder developmental disorder of mental health UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0000594 MONDO:0005503 True pervasive developmental disorder developmental disorder of mental health UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0000595 MONDO:0002025 True sexual and gender identity disorders psychiatric disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0000597 MONDO:0002103 True Munchausen by proxy factitious disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0000598 MONDO:0004750 True aphasia language disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0000599 MONDO:0004681 True writing disorder learning disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0000600 MONDO:0012000 True nosophobia specific phobia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0000602 MONDO:0007179 True autoimmune disorder of blood autoimmune disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0000603 MONDO:0004995 True autoimmune disorder of cardiovascular system cardiovascular disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0000603 MONDO:0007179 True autoimmune disorder of cardiovascular system autoimmune disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0000605 MONDO:0005046 True hypersensitivity reaction disease immune system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000565 MONDO:0005025 True infective endocarditis endocarditis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0000577 MONDO:0002280 True congenital anemia anemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0000577 MONDO:0009332 True congenital anemia congenital hematological disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0000595 MONDO:0002025 True sexual and gender identity disorders psychiatric disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0000605 MONDO:0005046 True hypersensitivity reaction disease immune system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0000607 MONDO:0018898 True primary cutaneous T-cell non-Hodgkin lymphoma primary cutaneous lymphoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000610 MONDO:0005025 True marantic endocarditis endocarditis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0000611 MONDO:0005070 True pre-malignant neoplasm neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0000612 MONDO:0000621 True lymphatic system cancer immune system cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0000612 MONDO:0005833 True lymphatic system cancer lymphatic system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0000620 MONDO:0000634 True breast benign neoplasm thoracic benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0000620 MONDO:0021100 True breast benign neoplasm breast neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000621 MONDO:0004992 True immune system cancer cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0000621 MONDO:0005046 True immune system cancer immune system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0000624 MONDO:0000383 True benign female reproductive system neoplasm benign reproductive system neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000624 MONDO:0000383 True benign female reproductive system neoplasm benign reproductive system neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0000624 MONDO:0021148 True benign female reproductive system neoplasm female reproductive system neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000625 MONDO:0000383 True benign male reproductive system neoplasm benign reproductive system neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0000625 MONDO:0003150 True benign male reproductive system neoplasm male reproductive system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000625 MONDO:0000383 True benign male reproductive system neoplasm benign reproductive system neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0000625 MONDO:0003150 True benign male reproductive system neoplasm male reproductive system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0000627 MONDO:0002082 True benign endocrine neoplasm endocrine gland neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000627 MONDO:0005165 True benign endocrine neoplasm benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0000628 MONDO:0000648 True central nervous system organ benign neoplasm nervous system benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0000629 MONDO:0005165 True cardiovascular organ benign neoplasm benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0000630 MONDO:0005165 True immune system organ benign neoplasm benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0000631 MONDO:0000654 True bone benign neoplasm benign connective and soft tissue neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000627 MONDO:0005165 True benign endocrine neoplasm benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0000631 MONDO:0000654 True bone benign neoplasm benign connective and soft tissue neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0000631 MONDO:0019060 True bone benign neoplasm bone neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000632 MONDO:0000624 True uterine benign neoplasm benign female reproductive system neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000632 MONDO:0000624 True uterine benign neoplasm benign female reproductive system neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0000632 MONDO:0021353 True uterine benign neoplasm tumor of uterus UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000633 MONDO:0000648 True sensory organ benign neoplasm nervous system benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0000634 MONDO:0005165 True thoracic benign neoplasm benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000634 MONDO:0005165 True thoracic benign neoplasm benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0000634 MONDO:0021350 True thoracic benign neoplasm neoplasm of thorax UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000636 MONDO:0002081 True musculoskeletal system benign neoplasm musculoskeletal system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0000636 MONDO:0005165 True musculoskeletal system benign neoplasm benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0000637 MONDO:0002081 True musculoskeletal system cancer musculoskeletal system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0000637 MONDO:0004992 True musculoskeletal system cancer cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0000640 MONDO:0002714 True central nervous system primitive neuroectodermal neoplasm central nervous system cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0000642 MONDO:0016642 True brain meningioma meningioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0000643 MONDO:0000624 True vulvar benign neoplasm benign female reproductive system neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000640 MONDO:0002714 True central nervous system primitive neuroectodermal neoplasm central nervous system cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0000643 MONDO:0000624 True vulvar benign neoplasm benign female reproductive system neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0000643 MONDO:0021049 True vulvar benign neoplasm vulvar neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000644 MONDO:0000632 True cervical benign neoplasm uterine benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000644 MONDO:0000632 True cervical benign neoplasm uterine benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0000644 MONDO:0021230 True cervical benign neoplasm uterine cervix neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000645 MONDO:0000624 True fallopian tube benign neoplasm benign female reproductive system neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000645 MONDO:0000624 True fallopian tube benign neoplasm benign female reproductive system neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0000645 MONDO:0021092 True fallopian tube benign neoplasm fallopian tube neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000646 MONDO:0000624 True ovarian benign neoplasm benign female reproductive system neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000646 MONDO:0000624 True ovarian benign neoplasm benign female reproductive system neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0000646 MONDO:0021068 True ovarian benign neoplasm ovarian neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000647 MONDO:0000624 True benign vaginal neoplasm benign female reproductive system neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000647 MONDO:0000624 True benign vaginal neoplasm benign female reproductive system neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0000647 MONDO:0021050 True benign vaginal neoplasm vaginal neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000648 MONDO:0005165 True nervous system benign neoplasm benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000648 MONDO:0005165 True nervous system benign neoplasm benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0000648 MONDO:0021248 True nervous system benign neoplasm nervous system neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000649 MONDO:0005872 True sensory system cancer nervous system cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0000650 MONDO:0005165 True peritoneal benign neoplasm benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000650 MONDO:0005165 True peritoneal benign neoplasm benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0000650 MONDO:0006901 True peritoneal benign neoplasm peritoneal neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000652 MONDO:0002051 True integumentary system benign neoplasm integumentary system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0000652 MONDO:0005165 True integumentary system benign neoplasm benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0000653 MONDO:0002051 True integumentary system cancer integumentary system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0000653 MONDO:0004992 True integumentary system cancer cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0000654 MONDO:0000636 True benign connective and soft tissue neoplasm musculoskeletal system benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0000654 MONDO:0003900 True benign connective and soft tissue neoplasm connective tissue disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0000654 MONDO:0044334 True benign connective and soft tissue neoplasm connective and soft tissue neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000659 MONDO:0019464 True delta-heavy chain disease heavy chain disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0000660 MONDO:0005638 True akinetopsia agnosia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0000661 MONDO:0005638 True alexithymia agnosia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0000662 MONDO:0005638 True amusia agnosia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0000663 MONDO:0005638 True anosognosia agnosia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0000667 MONDO:0005638 True auditory agnosia agnosia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0000668 MONDO:0005638 True autotopagnosia agnosia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0000671 MONDO:0005638 True finger agnosia agnosia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0000673 MONDO:0005638 True integrative agnosia agnosia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0000674 MONDO:0005638 True mirror agnosia agnosia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0000675 MONDO:0005638 True pain agnosia agnosia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0000676 MONDO:0005638 True phonagnosia agnosia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0000677 MONDO:0005638 True semantic agnosia agnosia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0000678 MONDO:0005638 True simultanagnosia agnosia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0000679 MONDO:0005638 True social emotional agnosia agnosia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0000680 MONDO:0005638 True astereognosia agnosia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0000681 MONDO:0005638 True tactile agnosia agnosia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0000682 MONDO:0005638 True time agnosia agnosia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0000683 MONDO:0000685 True topographical agnosia visual agnosia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0000685 MONDO:0005638 True visual agnosia agnosia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0000686 MONDO:0000685 True alexia without agraphia visual agnosia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0000687 MONDO:0005340 True diffuse alopecia areata alopecia areata UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0000688 MONDO:0004736 True inborn organic aciduria inborn disorder of amino acid metabolism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0000690 MONDO:0003117 True body dysmorphic disorder somatoform disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0000693 MONDO:0004985 True bipolar II disorder bipolar disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0000694 MONDO:0002050 True seasonal affective disorder depressive disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0000698 MONDO:0004736 True gamma-amino butyric acid metabolism disorder inborn disorder of amino acid metabolism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0000701 MONDO:0005292 True ischemic colitis colitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0000702 MONDO:0005292 True microscopic colitis colitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0000703 MONDO:0000702 True collagenous colitis microscopic colitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0000704 MONDO:0000702 True lymphocytic colitis microscopic colitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0000706 MONDO:0005292 True chemical colitis colitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0000707 MONDO:0005292 True diversion colitis colitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0000715 MONDO:0001082 True lymph node adenoid cystic carcinoma lymph node cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0000716 MONDO:0000599 True agraphia writing disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0000723 MONDO:0004730 True stutter disorder speech disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0000724 MONDO:0004750 True specific language impairment language disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0000726 MONDO:0005392 True idiopathic scoliosis scoliosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0000728 MONDO:0005328 True ptosis eye disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0000733 MONDO:0000942 True cornea plana corneal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0000736 MONDO:0019289 True dyschromatosis universalis hereditaria hyperpigmentation of the skin UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000739 MONDO:0004867 True uvulitis upper respiratory tract disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0000740 MONDO:0004867 True adenoid hypertrophy upper respiratory tract disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0000741 MONDO:0002102 True angular cheilitis cheilitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0000743 MONDO:0006858 True oral hairy leukoplakia mouth disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0000744 MONDO:0005275 True lung abscess lung disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0000748 MONDO:0002614 True mastoiditis bone inflammation disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0000749 MONDO:0002657 True breast abscess breast disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0000750 MONDO:0006999 True dental abscess tooth disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0000751 MONDO:0002256 True cervical polyp cervix disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0000754 MONDO:0001593 True anal fistula rectal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0000755 MONDO:0002263 True ectopic pregnancy female reproductive system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0000756 MONDO:0009993 True parameningeal embryonal rhabdomyosarcoma embryonal rhabdomyosarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0000758 MONDO:0005664 True bacillary angiomatosis bartonellosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0000761 MONDO:0019040 True syndrome caused by partial chromosomal deletion chromosomal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0000762 MONDO:0019040 True syndrome caused by partial chromosomal duplication chromosomal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0000763 MONDO:0018102 True epithelial and subepithelial corneal dystrophy corneal dystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0000764 MONDO:0018102 True epithelial-stromal TGFBI dystrophy corneal dystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0000766 MONDO:0018102 True corneal endothelial dystrophy corneal dystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0000771 MONDO:0005271 True allergic respiratory disease allergic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0000774 MONDO:0000590 True autoimmune neuropathy autoimmune disorder of peripheral nervous system UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0000775 MONDO:0005271 True drug allergy allergic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0000777 MONDO:0005271 True gastrointestinal allergy allergic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0000807 MONDO:0005271 True latex allergy allergic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0000809 MONDO:0002610 True purpura fulminans purpura UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0000811 MONDO:0001389 True anomalous left coronary artery from the pulmonary artery congenital coronary artery anomaly UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0000813 MONDO:0005267 True cardiac tuberculosis heart disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0000814 MONDO:0003541 True B-cell adult acute lymphocytic leukemia adult acute lymphoblastic leukemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000685 MONDO:0021084 True visual agnosia vision disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0000702 MONDO:0005292 True microscopic colitis colitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0000703 MONDO:0000702 True collagenous colitis microscopic colitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0000704 MONDO:0000702 True lymphocytic colitis microscopic colitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0000705 MONDO:0005113 True Clostridium difficile colitis bacterial infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0000705 MONDO:0006039 True Clostridium difficile colitis infectious colitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0000723 MONDO:0004750 True stutter disorder language disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0000739 MONDO:0006858 True uvulitis mouth disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0000741 MONDO:0002102 True angular cheilitis cheilitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0000743 MONDO:0006858 True oral hairy leukoplakia mouth disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0000744 MONDO:0005227 True lung abscess abscess UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0000744 MONDO:0005275 True lung abscess lung disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0000748 MONDO:0021166 True mastoiditis inflammatory disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0000751 MONDO:0002256 True cervical polyp cervix disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0000751 MONDO:0004701 True cervical polyp uterine polyp UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0000755 MONDO:0002263 True ectopic pregnancy female reproductive system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0000814 MONDO:0003541 True B-cell adult acute lymphocytic leukemia adult acute lymphoblastic leukemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0000814 MONDO:0020511 True B-cell adult acute lymphocytic leukemia precursor B-cell acute lymphoblastic leukemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0000815 MONDO:0000592 True fetal nicotine spectrum disorder specific developmental disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0000816 MONDO:0002254 True abdominal obesity-metabolic syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0000819 MONDO:0002320 True anencephaly congenital nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0000824 MONDO:0001673 True congenital diarrhea diarrheal disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0000827 MONDO:0000314 True salmonellosis primary bacterial infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0000828 MONDO:0017279 True juvenile-onset Parkinson disease young-onset Parkinson disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0000831 MONDO:0005385 True thrombotic disease vascular disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0000833 MONDO:0005381 True bone remodeling disease bone disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0000836 MONDO:0005381 True disease of bone structure bone disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0000837 MONDO:0000833 True bone resorption disease bone remodeling disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0000845 MONDO:0000833 True fibrous dysplasia bone remodeling disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0000849 MONDO:0002254 True fibrogenesis imperfecta ossium syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0000858 MONDO:0003409 True neuronal intestinal dysplasia colonic disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0000859 MONDO:0008449 True spina bifida occulta spina bifida UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0000863 MONDO:0009637 True myopathy, lactic acidosis, and sideroblastic anemia inborn mitochondrial myopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0000863 MONDO:0016387 True myopathy, lactic acidosis, and sideroblastic anemia mitochondrial oxidative phosphorylation disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000863 MONDO:0020099 True myopathy, lactic acidosis, and sideroblastic anemia inherited sideroblastic anemia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING -MONDO:0000866 MONDO:0005336 True hereditary myoglobinuria myopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000816 MONDO:0002254 True abdominal obesity-metabolic syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0000820 MONDO:0002320 True cerebral cavernous malformation congenital nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0000831 MONDO:0005385 True thrombotic disease vascular disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0000859 MONDO:0008449 True spina bifida occulta spina bifida UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0000870 MONDO:0004355 True childhood acute lymphoblastic leukemia childhood leukemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0000870 MONDO:0004967 True childhood acute lymphoblastic leukemia acute lymphoblastic leukemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0000871 MONDO:0000870 True T-cell childhood acute lymphocytic leukemia childhood acute lymphoblastic leukemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000870 MONDO:0004967 True childhood acute lymphoblastic leukemia acute lymphoblastic leukemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0000871 MONDO:0000870 True T-cell childhood acute lymphocytic leukemia childhood acute lymphoblastic leukemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0000871 MONDO:0004403 True T-cell childhood acute lymphocytic leukemia childhood precursor T-lymphoblastic lymphoma/leukemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0000871 MONDO:0004963 True T-cell childhood acute lymphocytic leukemia T-cell acute lymphoblastic leukemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000872 MONDO:0000621 True B-cell childhood acute lymphoblastic leukemia immune system cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0000872 MONDO:0000870 True B-cell childhood acute lymphoblastic leukemia childhood acute lymphoblastic leukemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000872 MONDO:0000870 True B-cell childhood acute lymphoblastic leukemia childhood acute lymphoblastic leukemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0000872 MONDO:0020511 True B-cell childhood acute lymphoblastic leukemia precursor B-cell acute lymphoblastic leukemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0000873 MONDO:0003538 True lymphoblastic lymphoma precursor lymphoblastic lymphoma/leukemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0000873 MONDO:0018908 True lymphoblastic lymphoma non-Hodgkin lymphoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0000874 MONDO:0000873 True T-cell childhood lymphoblastic lymphoma lymphoblastic lymphoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000874 MONDO:0000873 True T-cell childhood lymphoblastic lymphoma lymphoblastic lymphoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0000874 MONDO:0003659 True T-cell childhood lymphoblastic lymphoma pediatric lymphoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0000874 MONDO:0004403 True T-cell childhood lymphoblastic lymphoma childhood precursor T-lymphoblastic lymphoma/leukemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000875 MONDO:0007896 True adult acute monocytic leukemia acute monocytic leukemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0000878 MONDO:0002708 True cytomegalovirus retinitis retinitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0000879 MONDO:0002026 True cutaneous candidiasis candidiasis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0000884 MONDO:0015688 True myeloid and lymphoid neoplasms associated with FGFR1 abnormalities myeloid/lymphoid neoplasms associated with eosinophilia and abnormality of PDGFRA, PDGFRB, FGFR1 or JAK2 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0000888 MONDO:0004335 True gastrointestinal mucositis digestive system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0000889 MONDO:0006670 True haemophilus meningitis bacterial meningitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0000891 MONDO:0006210 True mixed fibrolamellar hepatocellular carcinoma fibrolamellar hepatocellular carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000875 MONDO:0007896 True adult acute monocytic leukemia acute monocytic leukemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0000878 MONDO:0002708 True cytomegalovirus retinitis retinitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0000878 MONDO:0005132 True cytomegalovirus retinitis cytomegalovirus infection UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0000888 MONDO:0020579 True gastrointestinal mucositis mucositis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0000892 MONDO:0002271 True colon medullary carcinoma colon adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0000892 MONDO:0020794 True colon medullary carcinoma colorectal medullary carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000893 MONDO:0004991 True mixed mucinous and nonmucinous bronchioloalveolar adenocarcinoma minimally invasive lung adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0000894 MONDO:0004991 True mucinous bronchioloalveolar adenocarcinoma minimally invasive lung adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0000895 MONDO:0004991 True nonmucinous bronchioloalveolar adenocarcinoma minimally invasive lung adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0000901 MONDO:0018905 True relapsed/refractory diffuse large B-cell lymphoma diffuse large B-cell lymphoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0000903 MONDO:0020065 True myoclonus-dystonia syndrome combined dystonia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000904 MONDO:0003847 True complex cortical dysplasia with other brain malformations hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0000904 MONDO:0005560 True complex cortical dysplasia with other brain malformations brain disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000893 MONDO:0004991 True mixed mucinous and nonmucinous bronchioloalveolar adenocarcinoma minimally invasive lung adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0000908 MONDO:0016342 True arrhythmogenic right ventricular dysplasia 13 familial isolated arrhythmogenic right ventricular dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0000910 MONDO:0019200 True retinitis pigmentosa 6 retinitis pigmentosa UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0000912 MONDO:0019588 True autosomal recessive nonsyndromic hearing loss 5 hearing loss, autosomal recessive UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0000913 MONDO:0019350 True hereditary spherocytosis type 2 hereditary spherocytosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0000914 MONDO:0007432 True cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1 cerebral arteriopathy with subcortical infarcts and leukoencephalopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0000918 MONDO:0000931 True endometritis endometrial disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0000919 MONDO:0000920 True ampulla of vater cancer duodenum cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000910 MONDO:0019200 True retinitis pigmentosa 6 retinitis pigmentosa UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0000912 MONDO:0019588 True autosomal recessive nonsyndromic hearing loss 5 hearing loss, autosomal recessive UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0000914 MONDO:0007432 True cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1 cerebral arteriopathy with subcortical infarcts and leukoencephalopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0000918 MONDO:0000931 True endometritis endometrial disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0000919 MONDO:0000921 True ampulla of vater cancer ampulla of vater neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0000920 MONDO:0000956 True duodenum cancer small intestine cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000920 MONDO:0000956 True duodenum cancer small intestine cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0000920 MONDO:0021375 True duodenum cancer tumor of duodenum UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000922 MONDO:0002263 True pelvic inflammatory disease female reproductive system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0000923 MONDO:0004849 True interstitial emphysema pulmonary emphysema UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0000924 MONDO:0004849 True compensatory emphysema pulmonary emphysema UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0000926 MONDO:0005328 True eye accommodation disease eye disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0000927 MONDO:0004944 True asymptomatic neurosyphilis neurosyphilis UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0000928 MONDO:0005012 True eyelid melanoma cutaneous melanoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000922 MONDO:0002263 True pelvic inflammatory disease female reproductive system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0000922 MONDO:0021166 True pelvic inflammatory disease inflammatory disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0000923 MONDO:0004849 True interstitial emphysema pulmonary emphysema UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0000928 MONDO:0006325 True eyelid melanoma ocular melanoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0000928 MONDO:0021313 True eyelid melanoma eyelid cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000929 MONDO:0005012 True balloon cell malignant melanoma cutaneous melanoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0000930 MONDO:0005012 True nodular malignant melanoma cutaneous melanoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0000931 MONDO:0002654 True endometrial disorder uterine disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000929 MONDO:0005012 True balloon cell malignant melanoma cutaneous melanoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0000930 MONDO:0005012 True nodular malignant melanoma cutaneous melanoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0000931 MONDO:0002654 True endometrial disorder uterine disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0000933 MONDO:0021071 True subglottis neoplasm laryngeal neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000934 MONDO:0001572 True laryngeal leiomyoma leiomyoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0000934 MONDO:0002354 True laryngeal leiomyoma benign laryngeal neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000934 MONDO:0001572 True laryngeal leiomyoma leiomyoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0000934 MONDO:0002354 True laryngeal leiomyoma benign laryngeal neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0000935 MONDO:0001825 True larynx squamous papilloma squamous papilloma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0000935 MONDO:0002354 True larynx squamous papilloma benign laryngeal neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000935 MONDO:0002354 True larynx squamous papilloma benign laryngeal neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0000938 MONDO:0001572 True gastric leiomyoma leiomyoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0000938 MONDO:0021449 True gastric leiomyoma benign neoplasm of stomach UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000940 MONDO:0002428 True trypanosomiasis protozoa infectious disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0000942 MONDO:0005328 True corneal disorder eye disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0000943 MONDO:0015486 True acute hydrops keratoconus keratoconus UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0000944 MONDO:0011057 True cerebral artery occlusion cerebrovascular disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0000945 MONDO:0004634 True venous insufficiency vein disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0000946 MONDO:0000947 True psychologic vaginismus psychosexual disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0000947 MONDO:0000595 True psychosexual disorder sexual and gender identity disorders UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0000948 MONDO:0006733 True xerophthalmia dry eye syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0000949 MONDO:0006170 True conjunctival degeneration conjunctival disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0000951 MONDO:0002586 True thymus lymphoma thymus cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000939 MONDO:0005227 True intracranial abscess abscess UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0000940 MONDO:0002428 True trypanosomiasis protozoa infectious disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0000942 MONDO:0005328 True corneal disorder eye disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0000951 MONDO:0002586 True thymus lymphoma thymus cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0000951 MONDO:0004021 True thymus lymphoma mediastinal malignant lymphoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0000952 MONDO:0024311 True cancer of long bone of lower limb cancer affecting bone of limb skeleton SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000953 MONDO:0002129 True cancer of short bone of lower limb bone cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0000954 MONDO:0000955 True Meckel diverticulum cancer ileum cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0000955 MONDO:0000956 True ileum cancer small intestine cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0000956 MONDO:0004251 True small intestine cancer small intestine neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0000956 MONDO:0005814 True small intestine cancer intestinal cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0000957 MONDO:0001854 True lacrimal passage granuloma lacrimal apparatus disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0000960 MONDO:0005294 True diabetic peripheral angiopathy peripheral vascular disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0000961 MONDO:0000382 True endobronchial lipoma respiratory system benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0000961 MONDO:0002807 True endobronchial lipoma bronchial neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0000961 MONDO:0005106 True endobronchial lipoma lipoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000956 MONDO:0005814 True small intestine cancer intestinal cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0000961 MONDO:0005106 True endobronchial lipoma lipoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0000961 MONDO:0044335 True endobronchial lipoma benign soft tissue neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000962 MONDO:0005106 True spindle cell lipoma lipoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0000963 MONDO:0005106 True esophageal lipoma lipoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000962 MONDO:0005106 True spindle cell lipoma lipoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0000963 MONDO:0005106 True esophageal lipoma lipoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0000963 MONDO:0021459 True esophageal lipoma benign neoplasm of esophagus UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000964 MONDO:0005106 True skin lipoma lipoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000964 MONDO:0005106 True skin lipoma lipoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0000964 MONDO:0021440 True skin lipoma benign neoplasm of skin UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000965 MONDO:0000385 True liver lipoma benign digestive system neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0000965 MONDO:0000627 True liver lipoma benign endocrine neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0000965 MONDO:0005106 True liver lipoma lipoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0000965 MONDO:0024477 True liver lipoma liver and intrahepatic bile duct neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0000966 MONDO:0005106 True pleomorphic lipoma lipoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0000967 MONDO:0005106 True conventional lipoma lipoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0000968 MONDO:0002513 True kidney lipoma kidney benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0000968 MONDO:0005106 True kidney lipoma lipoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0000969 MONDO:0005106 True pleural lipoma lipoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000965 MONDO:0000385 True liver lipoma benign digestive system neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0000965 MONDO:0005106 True liver lipoma lipoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0000965 MONDO:0024477 True liver lipoma liver and intrahepatic bile duct neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0000966 MONDO:0005106 True pleomorphic lipoma lipoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0000967 MONDO:0005106 True conventional lipoma lipoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0000968 MONDO:0002513 True kidney lipoma kidney benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0000968 MONDO:0005106 True kidney lipoma lipoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0000969 MONDO:0005106 True pleural lipoma lipoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0000969 MONDO:0021457 True pleural lipoma benign neoplasm of pleura UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000970 MONDO:0000620 True breast lipoma breast benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0000970 MONDO:0005106 True breast lipoma lipoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0000971 MONDO:0005106 True chest wall lipoma lipoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000970 MONDO:0000620 True breast lipoma breast benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0000970 MONDO:0005106 True breast lipoma lipoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0000971 MONDO:0005106 True chest wall lipoma lipoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0000971 MONDO:0021529 True chest wall lipoma benign neoplasm of chest wall UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000972 MONDO:0005106 True gallbladder lipoma lipoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0000972 MONDO:0021503 True gallbladder lipoma benign neoplasm of gallbladder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0000973 MONDO:0005106 True external ear lipoma lipoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000972 MONDO:0005106 True gallbladder lipoma lipoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0000972 MONDO:0021503 True gallbladder lipoma benign neoplasm of gallbladder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0000973 MONDO:0005106 True external ear lipoma lipoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0000973 MONDO:0021235 True external ear lipoma external ear neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0000973 MONDO:0021474 True external ear lipoma benign neoplasm of ear UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000974 MONDO:0005106 True axillary lipoma lipoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000974 MONDO:0005106 True axillary lipoma lipoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0000974 MONDO:0036781 True axillary lipoma benign axillary neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000975 MONDO:0000625 True lipoma of spermatic cord benign male reproductive system neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0000975 MONDO:0000976 True lipoma of spermatic cord paratesticular lipoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000975 MONDO:0000625 True lipoma of spermatic cord benign male reproductive system neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0000975 MONDO:0000976 True lipoma of spermatic cord paratesticular lipoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0000975 MONDO:0024582 True lipoma of spermatic cord male reproductive system neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000976 MONDO:0000383 True paratesticular lipoma benign reproductive system neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0000976 MONDO:0005106 True paratesticular lipoma lipoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0000977 MONDO:0005106 True chondroid lipoma lipoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000976 MONDO:0000383 True paratesticular lipoma benign reproductive system neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0000976 MONDO:0005106 True paratesticular lipoma lipoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0000977 MONDO:0005106 True chondroid lipoma lipoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0000978 MONDO:0021385 True extrahepatic bile duct lipoma extrahepatic bile duct neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000979 MONDO:0000314 True pinta disease primary bacterial infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0000980 MONDO:0005311 True aortic atherosclerosis atherosclerosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0000981 MONDO:0005904 True Histoplasma pericarditis pericarditis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0000983 MONDO:0000596 True exhibitionism paraphilic disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0000986 MONDO:0002037 True pleurisy pleural disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0000987 MONDO:0005281 True cholesterolosis of gallbladder gallbladder disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0000988 MONDO:0002409 True discharging ear auditory system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0000990 MONDO:0004781 True acute subendocardial myocardial infarction acute myocardial infarction UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0000992 MONDO:0005267 True heart conduction disease heart disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0000993 MONDO:0005096 True prostate squamous cell carcinoma squamous cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0000993 MONDO:0005159 True prostate squamous cell carcinoma prostate carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0000994 MONDO:0008315 True malignant prostate phyllodes tumor prostate cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000979 MONDO:0007000 True pinta disease Treponema infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0000984 MONDO:0019050 True thalassemia inherited hemoglobinopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0000986 MONDO:0002037 True pleurisy pleural disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0000987 MONDO:0005281 True cholesterolosis of gallbladder gallbladder disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0000993 MONDO:0005096 True prostate squamous cell carcinoma squamous cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0000993 MONDO:0005159 True prostate squamous cell carcinoma prostate carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0000994 MONDO:0008315 True malignant prostate phyllodes tumor prostate cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0000994 MONDO:0021102 True malignant prostate phyllodes tumor prostate phyllodes tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0000994 MONDO:0037003 True malignant prostate phyllodes tumor malignant phyllodes tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000995 MONDO:0004689 True familial periodic paralysis inborn metal metabolism disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0000996 MONDO:0005062 True prostate lymphoma lymphoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0000996 MONDO:0008315 True prostate lymphoma prostate cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0000997 MONDO:0004896 True monocular esotropia esotropia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001000 MONDO:0015926 True mixed mineral dust pneumoconiosis pneumoconiosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001001 MONDO:0015926 True baritosis pneumoconiosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001003 MONDO:0015926 True pneumoconiosis due to talc pneumoconiosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001004 MONDO:0015926 True slate pneumoconiosis pneumoconiosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001006 MONDO:0003608 True glaucomatous atrophy of optic disk optic atrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001008 MONDO:0003382 True blepharophimosis eyelid disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001009 MONDO:0001011 True solitary cyst of breast breast cyst UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001011 MONDO:0000620 True breast cyst breast benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001014 MONDO:0005059 True chronic leukemia leukemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001015 MONDO:0001007 True eosinophilic meningitis chronic meningitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000996 MONDO:0005062 True prostate lymphoma lymphoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0000996 MONDO:0008315 True prostate lymphoma prostate cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001000 MONDO:0015926 True mixed mineral dust pneumoconiosis pneumoconiosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001001 MONDO:0015926 True baritosis pneumoconiosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001003 MONDO:0015926 True pneumoconiosis due to talc pneumoconiosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001004 MONDO:0015926 True slate pneumoconiosis pneumoconiosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001014 MONDO:0005059 True chronic leukemia leukemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0001016 MONDO:0003283 True epididymis cancer epididymal neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001016 MONDO:0005836 True epididymis cancer male reproductive organ cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001017 MONDO:0001016 True epididymal adenocarcinoma epididymis cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001017 MONDO:0004970 True epididymal adenocarcinoma adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001019 MONDO:0001020 True suppression amblyopia amblyopia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001021 MONDO:0001020 True ametropic amblyopia amblyopia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001022 MONDO:0001020 True disuse amblyopia amblyopia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001016 MONDO:0005836 True epididymis cancer male reproductive organ cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001017 MONDO:0001016 True epididymal adenocarcinoma epididymis cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001017 MONDO:0004970 True epididymal adenocarcinoma adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001020 MONDO:0021084 True amblyopia vision disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0001023 MONDO:0001014 True prolymphocytic leukemia chronic leukemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001024 MONDO:0005275 True pneumonic plague lung disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001024 MONDO:0019095 True pneumonic plague plague SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001025 MONDO:0001027 True seminal vesicle chronic gonorrhea gonococcal seminal vesiculitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001027 MONDO:0004277 True gonococcal seminal vesiculitis gonorrhea UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001027 MONDO:0004767 True gonococcal seminal vesiculitis vesiculitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001028 MONDO:0005076 True acute pericementitis periodontitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001029 MONDO:0002081 True Klippel-Feil syndrome musculoskeletal system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001030 MONDO:0015486 True keratoconus, stable condition keratoconus UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001031 MONDO:0005975 True purulent acute otitis media suppurative otitis media UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001032 MONDO:0004577 True Mooren ulcer corneal ulcer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001033 MONDO:0004577 True mycotic corneal ulcer corneal ulcer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001034 MONDO:0004577 True marginal corneal ulcer corneal ulcer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001035 MONDO:0001036 True hypopyon ulcer hypopyon UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001037 MONDO:0004577 True ring corneal ulcer corneal ulcer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001038 MONDO:0004577 True perforated corneal ulcer corneal ulcer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001039 MONDO:0004867 True tonsillitis upper respiratory tract disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001040 MONDO:0004821 True nasopharyngitis nasopharyngeal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001041 MONDO:0005276 True dentin caries dental caries UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001042 MONDO:0004857 True patellar tendinitis tendinitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001044 MONDO:0003749 True esophageal atresia esophageal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001045 MONDO:0005020 True intestinal atresia intestinal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001046 MONDO:0002519 True imperforate anus anus disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001048 MONDO:0001849 True orbital granuloma chronic orbital inflammation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001049 MONDO:0005904 True Dressler syndrome pericarditis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001050 MONDO:0004795 True malignant otitis externa otitis externa SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001051 MONDO:0004795 True acute otitis externa otitis externa UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001052 MONDO:0000262 True chronic fungal otitis externa otomycosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001054 MONDO:0005085 True double pterygium pterygium UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001055 MONDO:0005085 True conjunctival pterygium pterygium UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001056 MONDO:0002516 True gastric cancer digestive system cancer SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001024 MONDO:0019095 True pneumonic plague plague SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001028 MONDO:0005076 True acute pericementitis periodontitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001040 MONDO:0004821 True nasopharyngitis nasopharyngeal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001044 MONDO:0003749 True esophageal atresia esophageal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001045 MONDO:0005020 True intestinal atresia intestinal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001046 MONDO:0002519 True imperforate anus anus disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001050 MONDO:0004795 True malignant otitis externa otitis externa SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001056 MONDO:0002516 True gastric cancer digestive system cancer SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0001056 MONDO:0021085 True gastric cancer gastric neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001057 MONDO:0001056 True malignant gastric granular cell tumor gastric cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001057 MONDO:0001056 True malignant gastric granular cell tumor gastric cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0001057 MONDO:0003252 True malignant gastric granular cell tumor granular cell cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001059 MONDO:0001056 True gastric lymphoma gastric cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001059 MONDO:0001056 True gastric lymphoma gastric cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0001059 MONDO:0004699 True gastric lymphoma gastrointestinal lymphoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001060 MONDO:0005036 True microinvasive gastric cancer gastric adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001061 MONDO:0001056 True pylorus cancer gastric cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001062 MONDO:0001061 True pyloric antrum cancer pylorus cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001063 MONDO:0001056 True cardia cancer gastric cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001064 MONDO:0002172 True acute eustachian salpingitis otosalpingitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001066 MONDO:0006019 True late yaws yaws SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001067 MONDO:0006019 True early yaws yaws UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001068 MONDO:0000833 True osteomalacia bone remodeling disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001071 MONDO:0005503 True intellectual disability developmental disorder of mental health UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001072 MONDO:0005081 True mild pre-eclampsia preeclampsia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001073 MONDO:0001824 True idiopathic progressive polyneuropathy polyneuropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001074 MONDO:0002420 True chronic tic disorder tic disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001076 MONDO:0002908 True glucose intolerance glucose metabolism disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001079 MONDO:0002356 True pancreatic steatorrhea pancreas disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001080 MONDO:0001081 True acute gonococcal cervicitis acute cervicitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001081 MONDO:0002345 True acute cervicitis cervicitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001082 MONDO:0000612 True lymph node cancer lymphatic system cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001060 MONDO:0005036 True microinvasive gastric cancer gastric adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001066 MONDO:0006019 True late yaws yaws SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001067 MONDO:0006019 True early yaws yaws UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001068 MONDO:0800486 True osteomalacia metabolic bone disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0001074 MONDO:0005395 True chronic tic disorder movement disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001076 MONDO:0002908 True glucose intolerance glucose metabolism disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001078 MONDO:0020598 True tropical sprue malabsorption syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0001081 MONDO:0002345 True acute cervicitis cervicitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0001082 MONDO:0024339 True lymph node cancer lymph node neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001083 MONDO:0006510 True Fanconi renotubular syndrome renal tubular transport disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001084 MONDO:0003608 True primary optic atrophy optic atrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001085 MONDO:0001166 True interstitial nephritis nephritis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001086 MONDO:0003608 True partial optic atrophy optic atrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001087 MONDO:0002028 True schizotypal personality disorder personality disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001088 MONDO:0004781 True acute inferoposterior infarction acute myocardial infarction UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001089 MONDO:0004781 True acute inferolateral myocardial infarction acute myocardial infarction UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001090 MONDO:0004781 True acute anterolateral myocardial infarction acute myocardial infarction UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001083 MONDO:0002254 True Fanconi renotubular syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001085 MONDO:0001166 True interstitial nephritis nephritis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001087 MONDO:0002028 True schizotypal personality disorder personality disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0001091 MONDO:0002278 True lipoma of colon benign colon neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001091 MONDO:0003885 True lipoma of colon colorectal lipoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001091 MONDO:0003885 True lipoma of colon colorectal lipoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0001092 MONDO:0002278 True colon leiomyoma benign colon neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0001092 MONDO:0003299 True colon leiomyoma colorectal leiomyoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001093 MONDO:0002013 True colonic lymphangioma lymphangioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001093 MONDO:0002278 True colonic lymphangioma benign colon neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001094 MONDO:0005338 True residual stage of open angle glaucoma open-angle glaucoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001095 MONDO:0003098 True mediastinum neuroblastoma mediastinal neural neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001093 MONDO:0002013 True colonic lymphangioma lymphangioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001093 MONDO:0002278 True colonic lymphangioma benign colon neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001095 MONDO:0003098 True mediastinum neuroblastoma mediastinal neural neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0001095 MONDO:0005072 True mediastinum neuroblastoma neuroblastoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001095 MONDO:0005843 True mediastinum neuroblastoma mediastinal cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001095 MONDO:0005843 True mediastinum neuroblastoma mediastinal cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0001095 MONDO:0021089 True mediastinum neuroblastoma peripheral nervous system cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0001096 MONDO:0003327 True mediastinum ganglioneuroblastoma peripheral ganglioneuroblastoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001098 MONDO:0005618 True separation anxiety disorder anxiety disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001099 MONDO:0001011 True lactocele breast cyst UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001100 MONDO:0002657 True hypertrophy of breast breast disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001101 MONDO:0002657 True fat necrosis of breast breast disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001103 MONDO:0002428 True giardiasis protozoa infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001104 MONDO:0004425 True toxic diffuse goiter hyperthyroidism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001105 MONDO:0001200 True renal hypertension secondary hypertension UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001105 MONDO:0005240 True renal hypertension kidney disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001106 MONDO:0005240 True kidney failure kidney disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001108 MONDO:0001351 True broad ligament malignant neoplasm uterine adnexa cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001109 MONDO:0005246 True petrositis osteomyelitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001110 MONDO:0006939 True chronic pyelonephritis pyelonephritis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001112 MONDO:0005833 True bubonic plague lymphatic system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001112 MONDO:0019095 True bubonic plague plague SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001113 MONDO:0004496 True Fiedler's myocarditis myocarditis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001114 MONDO:0004496 True bacterial myocarditis myocarditis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001115 MONDO:0005571 True familial polycythemia polycythemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001116 MONDO:0002052 True mesenteric lymphadenitis lymphadenitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001118 MONDO:0001195 True Queensland tick typhus spotted fever UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001119 MONDO:0001889 True premature menopause ovarian dysfunction UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001120 MONDO:0001121 True chronic frontal sinusitis frontal sinusitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001121 MONDO:0005961 True frontal sinusitis sinusitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001122 MONDO:0005842 True chronic maxillary sinusitis maxillary sinusitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001123 MONDO:0005964 True chronic sphenoidal sinusitis sphenoid sinusitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001126 MONDO:0004247 True gastric ulcer peptic ulcer disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001127 MONDO:0004857 True tibialis tendinitis tendinitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001128 MONDO:0000376 True nasal cavity cancer respiratory system cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001100 MONDO:0002657 True hypertrophy of breast breast disorder SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001101 MONDO:0002657 True fat necrosis of breast breast disorder SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001106 MONDO:0005240 True kidney failure kidney disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001110 MONDO:0006939 True chronic pyelonephritis pyelonephritis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001112 MONDO:0019095 True bubonic plague plague SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001113 MONDO:0004496 True Fiedler's myocarditis myocarditis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001114 MONDO:0004496 True bacterial myocarditis myocarditis SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001115 MONDO:0005571 True familial polycythemia polycythemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001116 MONDO:0002052 True mesenteric lymphadenitis lymphadenitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001119 MONDO:0001889 True premature menopause ovarian dysfunction UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001120 MONDO:0001121 True chronic frontal sinusitis frontal sinusitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001120 MONDO:0006031 True chronic frontal sinusitis chronic rhinosinusitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0001121 MONDO:0005961 True frontal sinusitis sinusitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001122 MONDO:0005842 True chronic maxillary sinusitis maxillary sinusitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001122 MONDO:0006031 True chronic maxillary sinusitis chronic rhinosinusitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0001123 MONDO:0005964 True chronic sphenoidal sinusitis sphenoid sinusitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001123 MONDO:0006031 True chronic sphenoidal sinusitis chronic rhinosinusitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0001126 MONDO:0004247 True gastric ulcer peptic ulcer disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001126 MONDO:0004298 True gastric ulcer stomach disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0001128 MONDO:0004756 True nasal cavity cancer nasal cavity neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0001128 MONDO:0005627 True nasal cavity cancer head and neck cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001129 MONDO:0001128 True nasal cavity olfactory neuroblastoma nasal cavity cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001129 MONDO:0006329 True nasal cavity olfactory neuroblastoma olfactory neuroblastoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001130 MONDO:0001128 True nasal cavity lymphoma nasal cavity cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001130 MONDO:0005062 True nasal cavity lymphoma lymphoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001132 MONDO:0000595 True sexual sadism disorder sexual and gender identity disorders UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001133 MONDO:0001134 True malignant essential hypertension essential hypertension UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001134 MONDO:0005044 True essential hypertension hypertensive disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001135 MONDO:0000596 True voyeurism paraphilic disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001138 MONDO:0002322 True angiodysplasia of intestine angiodysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001138 MONDO:0005020 True angiodysplasia of intestine intestinal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001139 MONDO:0000595 True sexual masochism disorder sexual and gender identity disorders UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001141 MONDO:0005441 True middle ear cholesterol granuloma otitis media UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001142 MONDO:0006858 True salivary gland disorder mouth disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001143 MONDO:0003432 True paralytic strabismus strabismus UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001148 MONDO:0002800 True iliac vein thrombophlebitis thrombophlebitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001150 MONDO:0005560 True hydrocephalus brain disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001151 MONDO:0001134 True benign essential hypertension essential hypertension UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001152 MONDO:0002039 True amnestic disorder cognitive disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001154 MONDO:0001195 True Siberian tick typhus spotted fever UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001155 MONDO:0004247 True gastrojejunal ulcer peptic ulcer disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001156 MONDO:0002028 True borderline personality disorder personality disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001157 MONDO:0002028 True dependent personality disorder personality disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001158 MONDO:0002028 True obsessive-compulsive personality disorder personality disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001159 MONDO:0001160 True multiple personality disorder dissociative disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001160 MONDO:0002025 True dissociative disorder psychiatric disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001161 MONDO:0002028 True schizoid personality disorder personality disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001162 MONDO:0002025 True impulse control disorder psychiatric disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001163 MONDO:0002028 True paranoid personality disorder personality disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001164 MONDO:0002028 True antisocial personality disorder personality disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001165 MONDO:0006858 True tongue disorder mouth disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001166 MONDO:0005240 True nephritis kidney disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001167 MONDO:0000396 True spastic diplegia spastic cerebral palsy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001168 MONDO:0000396 True spastic hemiplegia spastic cerebral palsy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001169 MONDO:0000396 True spastic monoplegia spastic cerebral palsy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001171 MONDO:0001172 True acute salpingo-oophoritis salpingo-oophoritis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001172 MONDO:0006877 True salpingo-oophoritis oophoritis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001173 MONDO:0003619 True acute salpingitis salpingitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001174 MONDO:0006170 True conjunctival vascular disorder conjunctival disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001175 MONDO:0005129 True immature cataract cataract UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001176 MONDO:0005328 True lens disorder eye disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001177 MONDO:0002519 True anorectal stricture anus disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001178 MONDO:0000942 True pseudopterygium corneal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001179 MONDO:0000949 True pinguecula conjunctival degeneration UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001180 MONDO:0006712 True bullous keratopathy corneal edema UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001181 MONDO:0006712 True secondary corneal edema corneal edema UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001182 MONDO:0006712 True idiopathic corneal edema corneal edema UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001183 MONDO:0006712 True contact lens corneal edema corneal edema UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001185 MONDO:0001160 True dissociative amnesia dissociative disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001186 MONDO:0001160 True depersonalization disorder dissociative disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001129 MONDO:0001128 True nasal cavity olfactory neuroblastoma nasal cavity cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001129 MONDO:0006329 True nasal cavity olfactory neuroblastoma olfactory neuroblastoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001130 MONDO:0001128 True nasal cavity lymphoma nasal cavity cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001130 MONDO:0005062 True nasal cavity lymphoma lymphoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001132 MONDO:0000595 True sexual sadism disorder sexual and gender identity disorders UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001139 MONDO:0000595 True sexual masochism disorder sexual and gender identity disorders UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001147 MONDO:0002320 True meningocele congenital nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001149 MONDO:0700092 True microcephaly neurodevelopmental disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0001150 MONDO:0005560 True hydrocephalus brain disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001156 MONDO:0002028 True borderline personality disorder personality disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001157 MONDO:0002028 True dependent personality disorder personality disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001158 MONDO:0002028 True obsessive-compulsive personality disorder personality disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001159 MONDO:0001160 True multiple personality disorder dissociative disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001160 MONDO:0002025 True dissociative disorder psychiatric disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001161 MONDO:0002028 True schizoid personality disorder personality disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001162 MONDO:0002025 True impulse control disorder psychiatric disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001163 MONDO:0002028 True paranoid personality disorder personality disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001164 MONDO:0002028 True antisocial personality disorder personality disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001165 MONDO:0006858 True tongue disorder mouth disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001166 MONDO:0005240 True nephritis kidney disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001173 MONDO:0003619 True acute salpingitis salpingitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001174 MONDO:0005552 True conjunctival vascular disorder ocular vascular disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0001174 MONDO:0006170 True conjunctival vascular disorder conjunctival disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001176 MONDO:0005328 True lens disorder eye disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001180 MONDO:0002261 True bullous keratopathy keratopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001185 MONDO:0001160 True dissociative amnesia dissociative disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001186 MONDO:0001160 True depersonalization disorder dissociative disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0001187 MONDO:0004987 True urinary bladder cancer urinary bladder neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001187 MONDO:0006295 True urinary bladder cancer malignant urinary system neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001187 MONDO:0006295 True urinary bladder cancer malignant urinary system neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0001188 MONDO:0004699 True esophagus lymphoma gastrointestinal lymphoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001188 MONDO:0007576 True esophagus lymphoma esophageal cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001190 MONDO:0005683 True Brucella suis brucellosis brucellosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001191 MONDO:0005550 True hirudiniasis infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001192 MONDO:0007576 True esophageal melanoma esophageal cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001188 MONDO:0007576 True esophagus lymphoma esophageal cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001192 MONDO:0007576 True esophageal melanoma esophageal cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0001192 MONDO:0045070 True esophageal melanoma digestive system melanoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001196 MONDO:0000947 True psychologic dyspareunia psychosexual disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001198 MONDO:0002049 True acquired thrombocytopenia thrombocytopenia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001199 MONDO:0002409 True dislocation of ear ossicle auditory system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001200 MONDO:0005044 True secondary hypertension hypertensive disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001202 MONDO:0003105 True prostatic cyst prostate disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001204 MONDO:0007576 True esophagus sarcoma esophageal cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001204 MONDO:0007576 True esophagus sarcoma esophageal cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0001204 MONDO:0018078 True esophagus sarcoma soft tissue sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001205 MONDO:0005041 True hypersecretion glaucoma glaucoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001206 MONDO:0005041 True aqueous misdirection glaucoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001209 MONDO:0005108 True common wart viral infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001208 MONDO:0021113 True acute respiratory failure respiratory failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0001209 MONDO:0024666 True common wart benign epithelial skin neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001210 MONDO:0004751 True enophthalmos disease of orbital part of eye adnexa UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001211 MONDO:0000926 True total internal ophthalmoplegia eye accommodation disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001211 MONDO:0002285 True total internal ophthalmoplegia pupil disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001212 MONDO:0005441 True non-suppurative otitis media otitis media UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001214 MONDO:0003799 True acute conjunctivitis conjunctivitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001215 MONDO:0000308 True allescheriosis primary systemic mycosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001216 MONDO:0003394 True pulp degeneration dental pulp disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001217 MONDO:0001214 True pseudomembranous conjunctivitis acute conjunctivitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001218 MONDO:0004867 True acute laryngopharyngitis upper respiratory tract disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001219 MONDO:0001214 True serous conjunctivitis except viral acute conjunctivitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001220 MONDO:0001223 True hypoparathyroidism parathyroid gland disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001221 MONDO:0003749 True esophageal varices esophageal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001223 MONDO:0005151 True parathyroid gland disorder endocrine system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001224 MONDO:0005642 True Angelucci syndrome atopic conjunctivitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001225 MONDO:0002491 True opioid abuse substance abuse UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001226 MONDO:0001214 True acute contagious conjunctivitis acute conjunctivitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001228 MONDO:0001214 True conjunctival folliculosis acute conjunctivitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001229 MONDO:0004235 True small intestine diverticulitis diverticulitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001230 MONDO:0004751 True acute orbital inflammation disease of orbital part of eye adnexa UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001231 MONDO:0001230 True orbital periostitis acute orbital inflammation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001232 MONDO:0001230 True orbital osteomyelitis acute orbital inflammation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001233 MONDO:0001230 True orbital tenonitis acute orbital inflammation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001234 MONDO:0002409 True adhesive otitis media auditory system disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001214 MONDO:0003799 True acute conjunctivitis conjunctivitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001217 MONDO:0006668 True pseudomembranous conjunctivitis bacterial conjunctivitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001220 MONDO:0001223 True hypoparathyroidism parathyroid gland disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001221 MONDO:0003749 True esophageal varices esophageal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001222 MONDO:0003780 True congenital T-cell immunodeficiency T-cell immunodeficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0001224 MONDO:0001214 True Angelucci syndrome acute conjunctivitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001224 MONDO:0005642 True Angelucci syndrome atopic conjunctivitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001226 MONDO:0001214 True acute contagious conjunctivitis acute conjunctivitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001234 MONDO:0002409 True adhesive otitis media auditory system disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0001235 MONDO:0001236 True appendix cancer appendiceal neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001237 MONDO:0001235 True appendix lymphoma appendix cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001238 MONDO:0005571 True polycythemia neonatorum polycythemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001239 MONDO:0001240 True anemia of prematurity neonatal anemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001240 MONDO:0002280 True neonatal anemia anemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001241 MONDO:0001475 True transient neonatal neutropenia neutropenia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001242 MONDO:0001243 True disseminated intravascular coagulation in newborn disseminated intravascular coagulation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001243 MONDO:0002305 True disseminated intravascular coagulation thrombophilia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001245 MONDO:0002280 True microcytic anemia anemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001247 MONDO:0003699 True social phobia phobic disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001250 MONDO:0005328 True keratomalacia eye disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001251 MONDO:0004508 True chronic apical periodontitis periapical periodontitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001252 MONDO:0004425 True Plummer disease hyperthyroidism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001255 MONDO:0017853 True ventilation pneumonitis hypersensitivity pneumonitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001256 MONDO:0006500 True arteriovenous hemangioma/malformation hemangioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001257 MONDO:0002311 True retinal microaneurysm retinal vascular disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001258 MONDO:0003718 True vertebral artery occlusion occlusion precerebral artery UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001259 MONDO:0002721 True pituitary gland infarction necrosis of pituitary UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001260 MONDO:0015254 True cercarial dermatitis schistosomiasis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001261 MONDO:0000467 True Mobitz type II atrioventricular block second-degree atrioventricular block UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001263 MONDO:0002708 True histoplasmosis retinitis retinitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001265 MONDO:0005485 True schizophreniform disorder psychotic disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001268 MONDO:0002021 True gingival recession gingival disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001269 MONDO:0005328 True scleral disorder eye disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001270 MONDO:0007197 True stone in bladder diverticulum bladder diverticulum UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001271 MONDO:0001176 True lens subluxation lens disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001272 MONDO:0003409 True functional diarrhea colonic disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001273 MONDO:0003409 True megacolon colonic disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001274 MONDO:0002519 True anal spasm anus disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001275 MONDO:0001279 True spinal meningioma intraspinal meningioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001237 MONDO:0001235 True appendix lymphoma appendix cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001238 MONDO:0005571 True polycythemia neonatorum polycythemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001242 MONDO:0001243 True disseminated intravascular coagulation in newborn disseminated intravascular coagulation UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001244 MONDO:0024298 True vitamin K deficiency hemorrhagic disease vitamin deficiency disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0001245 MONDO:0002280 True microcytic anemia anemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001247 MONDO:0003699 True social phobia phobic disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001252 MONDO:0004425 True Plummer disease hyperthyroidism UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001261 MONDO:0000467 True Mobitz type II atrioventricular block second-degree atrioventricular block UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001269 MONDO:0005328 True scleral disorder eye disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001271 MONDO:0001176 True lens subluxation lens disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001275 MONDO:0001279 True spinal meningioma intraspinal meningioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0001275 MONDO:0021234 True spinal meningioma spinal cord neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001276 MONDO:0004750 True expressive language disorder language disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001277 MONDO:0011057 True cerebral arteritis cerebrovascular disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001276 MONDO:0004750 True expressive language disorder language disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0001279 MONDO:0016642 True intraspinal meningioma meningioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001280 MONDO:0001898 True choroiditis optic choroid disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001281 MONDO:0001286 True alternating exotropia exotropia SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001282 MONDO:0002156 True fallopian tube endometriosis fallopian tube disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001282 MONDO:0005133 True fallopian tube endometriosis endometriosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001283 MONDO:0002263 True endosalpingiosis female reproductive system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001284 MONDO:0005020 True endometriosis of intestine intestinal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001284 MONDO:0005133 True endometriosis of intestine endometriosis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001285 MONDO:0005133 True endometriosis of pelvic peritoneum endometriosis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001286 MONDO:0003432 True exotropia strabismus UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001287 MONDO:0005133 True endometriosis in cutaneous scar endometriosis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001288 MONDO:0005133 True endometriosis of rectovaginal septum and vagina endometriosis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001290 MONDO:0006794 True allergic cutaneous vasculitis hypersensitivity vasculitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001291 MONDO:0005560 True brain compression brain disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001292 MONDO:0003620 True autonomic nervous system disorder peripheral nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001281 MONDO:0001286 True alternating exotropia exotropia SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001282 MONDO:0002156 True fallopian tube endometriosis fallopian tube disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001282 MONDO:0005133 True fallopian tube endometriosis endometriosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001284 MONDO:0005133 True endometriosis of intestine endometriosis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001285 MONDO:0005133 True endometriosis of pelvic peritoneum endometriosis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001286 MONDO:0003432 True exotropia strabismus UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001287 MONDO:0005133 True endometriosis in cutaneous scar endometriosis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001288 MONDO:0005133 True endometriosis of rectovaginal septum and vagina endometriosis SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001290 MONDO:0020576 True allergic cutaneous vasculitis cutaneous vasculitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0001293 MONDO:0000933 True subglottis cancer subglottis neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001293 MONDO:0002352 True subglottis cancer larynx cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001294 MONDO:0001300 True Horner syndrome autonomic neuropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001295 MONDO:0001292 True idiopathic peripheral autonomic neuropathy autonomic nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001293 MONDO:0002352 True subglottis cancer larynx cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0001296 MONDO:0004588 True acquired night blindness night blindness SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001296 MONDO:0006873 True acquired night blindness nutritional deficiency disease UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001297 MONDO:0001370 True cardiac tamponade pericardial effusion UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001298 MONDO:0003767 True congenital mitral valve insufficiency mitral valve disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001299 MONDO:0001300 True diabetic autonomic neuropathy autonomic neuropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001300 MONDO:0001292 True autonomic neuropathy autonomic nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001300 MONDO:0005244 True autonomic neuropathy peripheral neuropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001301 MONDO:0005451 True rumination disorder eating disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001302 MONDO:0005267 True hypertensive heart disease heart disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001303 MONDO:0002285 True abnormal pupillary function pupil disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001305 MONDO:0004382 True laryngostenosis laryngeal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001307 MONDO:0004903 True corneal abscess deep keratitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001308 MONDO:0000942 True corneal deposit corneal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001298 MONDO:0003767 True congenital mitral valve insufficiency mitral valve disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001299 MONDO:0001300 True diabetic autonomic neuropathy autonomic neuropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001299 MONDO:0006626 True diabetic autonomic neuropathy diabetic neuropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001300 MONDO:0005244 True autonomic neuropathy peripheral neuropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001302 MONDO:0005267 True hypertensive heart disease heart disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001307 MONDO:0005227 True corneal abscess abscess UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0001307 MONDO:0023865 True corneal abscess corneal infection UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0001309 MONDO:0002782 True oculomotor nerve paralysis cranial nerve palsy UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001309 MONDO:0003546 True oculomotor nerve paralysis third cranial nerve disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001310 MONDO:0000942 True Bowman's membrane folds or rupture corneal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001312 MONDO:0002738 True acute serous otitis media acute transudative otitis media UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001313 MONDO:0001312 True acute allergic serous otitis media acute serous otitis media UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001314 MONDO:0005578 True chondrocalcinosis arthritic joint disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001315 MONDO:0003117 True neurocirculatory asthenia somatoform disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001316 MONDO:0006670 True streptococcal meningitis bacterial meningitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001317 MONDO:0004768 True phlyctenulosis keratoconjunctivitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001318 MONDO:0004298 True functional gastric disease stomach disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001319 MONDO:0001187 True bladder lateral wall cancer urinary bladder cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001320 MONDO:0001269 True ring staphyloma scleral disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001322 MONDO:0001340 True pericardium cancer heart cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001309 MONDO:0003546 True oculomotor nerve paralysis third cranial nerve disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001314 MONDO:0005066 True chondrocalcinosis metabolic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001314 MONDO:0005578 True chondrocalcinosis arthritic joint disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001314 MONDO:0800486 True chondrocalcinosis metabolic bone disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0001322 MONDO:0021381 True pericardium cancer neoplasm of pericardium UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001325 MONDO:0005836 True penile cancer male reproductive organ cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001325 MONDO:0005836 True penile cancer male reproductive organ cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0001325 MONDO:0006895 True penile cancer penile neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001326 MONDO:0003394 True dental pulp necrosis dental pulp disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001327 MONDO:0001592 True pelvic muscle wasting prolapse of female genital organ SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001329 MONDO:0000926 True accommodative spasm eye accommodation disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001330 MONDO:0000926 True presbyopia eye accommodation disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001331 MONDO:0006170 True conjunctival deposit conjunctival disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001334 MONDO:0003382 True hypertrichosis of eyelid eyelid disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001334 MONDO:0019280 True hypertrichosis of eyelid hypertrichosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001335 MONDO:0003037 True hypotrichosis of eyelid hypotrichosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001335 MONDO:0003382 True hypotrichosis of eyelid eyelid disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001336 MONDO:0002525 True familial hyperlipidemia inherited lipid metabolism disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001337 MONDO:0008420 True inflamed seborrheic keratosis seborrheic keratosis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001338 MONDO:0004508 True acute apical periodontitis periapical periodontitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001339 MONDO:0000831 True portal vein thrombosis thrombotic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001339 MONDO:0002405 True portal vein thrombosis hepatic vascular disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001339 MONDO:0004634 True portal vein thrombosis vein disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001340 MONDO:0002100 True heart cancer cardiovascular cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001327 MONDO:0001592 True pelvic muscle wasting prolapse of female genital organ SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001337 MONDO:0008420 True inflamed seborrheic keratosis seborrheic keratosis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001339 MONDO:0000831 True portal vein thrombosis thrombotic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001340 MONDO:0002100 True heart cancer cardiovascular cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0001340 MONDO:0003274 True heart cancer thoracic cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0001340 MONDO:0021209 True heart cancer heart neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001341 MONDO:0001342 True selective IgA deficiency disease dysgammaglobulinemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001342 MONDO:0003739 True dysgammaglobulinemia selective immunoglobulin deficiency disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001345 MONDO:0002491 True antidepressant type abuse substance abuse UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001347 MONDO:0016106 True facioscapulohumeral muscular dystrophy progressive muscular dystrophy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001349 MONDO:0005276 True odontoclasia dental caries UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001351 MONDO:0002715 True uterine adnexa cancer uterine cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001352 MONDO:0001351 True round ligament malignant neoplasm uterine adnexa cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001355 MONDO:0005328 True ocular siderosis eye disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001356 MONDO:0006873 True iron deficiency anemia nutritional deficiency disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001357 MONDO:0002280 True hypochromic anemia anemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001358 MONDO:0000270 True bronchial disorder lower respiratory tract disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001360 MONDO:0004390 True blind hypotensive eye ocular hypotension UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001361 MONDO:0004843 True spontaneous ocular nystagmus pathologic nystagmus UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001364 MONDO:0011284 True regular astigmatism astigmatism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001366 MONDO:0002332 True splenic sequestration splenic disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001368 MONDO:0001515 True phthisical cornea corneal degeneration UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001369 MONDO:0002647 True chronic laryngitis laryngitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001370 MONDO:0000474 True pericardial effusion pericardium disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001371 MONDO:0006873 True protein-energy malnutrition nutritional deficiency disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001372 MONDO:0001187 True bladder neck cancer urinary bladder cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001373 MONDO:0001187 True urinary bladder posterior wall cancer urinary bladder cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001374 MONDO:0001187 True bladder sarcoma urinary bladder cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001357 MONDO:0002280 True hypochromic anemia anemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001369 MONDO:0002647 True chronic laryngitis laryngitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001371 MONDO:0006873 True protein-energy malnutrition nutritional deficiency disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001374 MONDO:0001187 True bladder sarcoma urinary bladder cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0001374 MONDO:0018078 True bladder sarcoma soft tissue sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001376 MONDO:0001187 True urinary bladder anterior wall cancer urinary bladder cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001377 MONDO:0004860 True vitreous syneresis vitreous disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001378 MONDO:0001187 True urachus cancer urinary bladder cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001380 MONDO:0001187 True bladder dome cancer urinary bladder cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001381 MONDO:0001187 True bladder lymphoma urinary bladder cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001381 MONDO:0005062 True bladder lymphoma lymphoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001381 MONDO:0001187 True bladder lymphoma urinary bladder cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001381 MONDO:0005062 True bladder lymphoma lymphoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001382 MONDO:0002254 True hepatorenal syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0001382 MONDO:0005154 True hepatorenal syndrome liver disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001383 MONDO:0001384 True degenerative myopia myopia UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001384 MONDO:0004892 True myopia refractive error UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001385 MONDO:0003584 True cortical blindness visual cortex disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001387 MONDO:0001325 True penile sarcoma penile cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001385 MONDO:0001941 True cortical blindness blindness (disorder) UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001386 MONDO:0017768 True visual epilepsy reflex epilepsy UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001387 MONDO:0001325 True penile sarcoma penile cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0001387 MONDO:0018078 True penile sarcoma soft tissue sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001388 MONDO:0001325 True glans penis cancer penile cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001389 MONDO:0005010 True congenital coronary artery anomaly coronary artery disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001390 MONDO:0004892 True transient refractive change refractive error UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001391 MONDO:0005124 True indeterminate leprosy leprosy SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001392 MONDO:0001286 True monocular exotropia exotropia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001393 MONDO:0002164 True peripheral focal chorioretinitis focal chorioretinitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001395 MONDO:0003085 True macular keratitis keratitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001396 MONDO:0004588 True abnormal threshold of rods night blindness SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001397 MONDO:0005244 True mononeuropathy peripheral neuropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001398 MONDO:0004180 True ureter benign neoplasm benign urinary system neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001391 MONDO:0005124 True indeterminate leprosy leprosy SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001396 MONDO:0004588 True abnormal threshold of rods night blindness SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001398 MONDO:0004180 True ureter benign neoplasm benign urinary system neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0001398 MONDO:0021111 True ureter benign neoplasm ureter neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001399 MONDO:0001398 True ureter leiomyoma ureter benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001399 MONDO:0001572 True ureter leiomyoma leiomyoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001400 MONDO:0001398 True schwannoma of ureter ureter benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001400 MONDO:0004820 True schwannoma of ureter peripheral nerve schwannoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001401 MONDO:0004379 True female breast nipple and areola cancer female breast carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001402 MONDO:0001416 True vaginal cancer female reproductive organ cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001399 MONDO:0001398 True ureter leiomyoma ureter benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001399 MONDO:0001572 True ureter leiomyoma leiomyoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001400 MONDO:0001398 True schwannoma of ureter ureter benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001400 MONDO:0004820 True schwannoma of ureter peripheral nerve schwannoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001402 MONDO:0001416 True vaginal cancer female reproductive organ cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0001402 MONDO:0021050 True vaginal cancer vaginal neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001403 MONDO:0001528 True labium majus cancer vulva cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001404 MONDO:0004592 True ecthyma impetigo UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001405 MONDO:0004678 True dermatophytosis of groin and perianal area dermatophytosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001406 MONDO:0003620 True peripheral nervous system neoplasm peripheral nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001403 MONDO:0001528 True labium majus cancer vulva cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001405 MONDO:0004678 True dermatophytosis of groin and perianal area dermatophytosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001406 MONDO:0003620 True peripheral nervous system neoplasm peripheral nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0001406 MONDO:0021248 True peripheral nervous system neoplasm nervous system neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001407 MONDO:0000376 True tracheal cancer respiratory system cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0001407 MONDO:0021210 True tracheal cancer trachea neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001408 MONDO:0005244 True ischemic neuropathy peripheral neuropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001409 MONDO:0003749 True esophagitis esophageal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001410 MONDO:0002234 True postmenopausal atrophic vaginitis vaginitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001411 MONDO:0018234 True synostosis dysostosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001412 MONDO:0001331 True conjunctival concretion conjunctival deposit UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001413 MONDO:0018077 True ulceroglandular tularemia tularemia SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001414 MONDO:0002933 True osteopoikilosis osteosclerosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001415 MONDO:0002329 True atrophy of testis testicular disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001416 MONDO:0002149 True female reproductive organ cancer reproductive system cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001408 MONDO:0005244 True ischemic neuropathy peripheral neuropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001409 MONDO:0003749 True esophagitis esophageal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001413 MONDO:0018077 True ulceroglandular tularemia tularemia SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001415 MONDO:0002329 True atrophy of testis testicular disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001416 MONDO:0002149 True female reproductive organ cancer reproductive system cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0001416 MONDO:0021148 True female reproductive organ cancer female reproductive system neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001417 MONDO:0001407 True tracheal lymphoma tracheal cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001417 MONDO:0005062 True tracheal lymphoma lymphoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001418 MONDO:0001407 True trachea sarcoma tracheal cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001417 MONDO:0001407 True tracheal lymphoma tracheal cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001417 MONDO:0005062 True tracheal lymphoma lymphoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001418 MONDO:0001407 True trachea sarcoma tracheal cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0001418 MONDO:0018078 True trachea sarcoma soft tissue sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001419 MONDO:0003184 True trachea squamous cell carcinoma trachea carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001419 MONDO:0005096 True trachea squamous cell carcinoma squamous cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001419 MONDO:0003184 True trachea squamous cell carcinoma trachea carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001419 MONDO:0005096 True trachea squamous cell carcinoma squamous cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0001420 MONDO:0002633 True trigeminal nerve neoplasm cranial nerve neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0001420 MONDO:0003543 True trigeminal nerve neoplasm trigeminal nerve disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0001421 MONDO:0021374 True frontal lobe neoplasm neoplasm of cerebral hemisphere UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001422 MONDO:0005495 True primary aldosteronism adrenal gland disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001426 MONDO:0003098 True mediastinum neurofibroma mediastinal neural neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001426 MONDO:0016755 True mediastinum neurofibroma neurofibroma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001427 MONDO:0004298 True Dieulafoy lesion stomach disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001428 MONDO:0004298 True pylorospasm stomach disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001429 MONDO:0006816 True transient arthropathy arthropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001430 MONDO:0006713 True deep corneal vascularisation corneal neovascularization UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001431 MONDO:0005885 True toxic or nutritional optic neuropathy optic neuritis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001433 MONDO:0002263 True vaginal disorder female reproductive system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001434 MONDO:0003937 True inflammatory spondylopathy spondylitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001435 MONDO:0004579 True bullous retinoschisis retinoschisis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001436 MONDO:0002279 True hemosiderosis iron metabolism disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001437 MONDO:0005275 True pulmonary alveolar proteinosis lung disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001438 MONDO:0002771 True postinflammatory pulmonary fibrosis pulmonary fibrosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001439 MONDO:0001269 True episcleritis periodica fugax scleral disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001440 MONDO:0004768 True neurotrophic keratoconjunctivitis keratoconjunctivitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001441 MONDO:0005451 True pica disease eating disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001442 MONDO:0005371 True dysthymic disorder mood disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001443 MONDO:0003648 True tympanosclerosis tympanic membrane disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001444 MONDO:0000940 True Chagas disease trypanosomiasis UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001446 MONDO:0006026 True low compliance bladder urinary bladder disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001447 MONDO:0006026 True detrusor sphincter dyssynergia urinary bladder disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001451 MONDO:0004580 True peripheral retinal degeneration retinal degeneration UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001452 MONDO:0001451 True pseudoretinitis pigmentosa peripheral retinal degeneration UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001453 MONDO:0001451 True senile reticular retinal degeneration peripheral retinal degeneration UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001454 MONDO:0001451 True Blessig's cysts peripheral retinal degeneration UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001455 MONDO:0001451 True retinal lattice degeneration peripheral retinal degeneration UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001456 MONDO:0001451 True cobblestone retinal degeneration peripheral retinal degeneration UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001457 MONDO:0001451 True secondary vitreoretinal degeneration peripheral retinal degeneration UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001459 MONDO:0001397 True radial neuropathy mononeuropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001460 MONDO:0005397 True dyshormonogenic goiter goiter UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001461 MONDO:0004678 True tinea corporis dermatophytosis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001462 MONDO:0021063 True descending colon cancer malignant colon neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001463 MONDO:0001462 True splenic flexure cancer descending colon cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001464 MONDO:0021063 True sigmoid colon cancer malignant colon neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001465 MONDO:0003085 True superficial keratitis keratitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001466 MONDO:0004768 True punctate epithelial keratoconjunctivitis keratoconjunctivitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001468 MONDO:0006816 True synovial plica syndrome arthropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001469 MONDO:0004298 True cascade stomach stomach disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001426 MONDO:0003098 True mediastinum neurofibroma mediastinal neural neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001426 MONDO:0016755 True mediastinum neurofibroma neurofibroma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001429 MONDO:0006816 True transient arthropathy arthropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001431 MONDO:0005885 True toxic or nutritional optic neuropathy optic neuritis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001433 MONDO:0002263 True vaginal disorder female reproductive system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001437 MONDO:0005275 True pulmonary alveolar proteinosis lung disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001442 MONDO:0005371 True dysthymic disorder mood disorder SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001451 MONDO:0004580 True peripheral retinal degeneration retinal degeneration UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001461 MONDO:0004678 True tinea corporis dermatophytosis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0001470 MONDO:0002529 True anal margin squamous cell carcinoma skin squamous cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001470 MONDO:0002941 True anal margin squamous cell carcinoma anal margin carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001470 MONDO:0002941 True anal margin squamous cell carcinoma anal margin carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0001470 MONDO:0006082 True anal margin squamous cell carcinoma anal squamous cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001471 MONDO:0006764 True histoplasmosis meningitis fungal meningitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001472 MONDO:0005447 True testicular lymphoma testicular cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001473 MONDO:0005495 True medulloadrenal hyperfunction adrenal gland disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001474 MONDO:0001172 True chronic salpingo-oophoritis salpingo-oophoritis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001475 MONDO:0001609 True neutropenia agranulocytosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001476 MONDO:0005328 True coloboma eye disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001478 MONDO:0004892 True anisometropia refractive error UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001479 MONDO:0002922 True cutaneous diphtheria pyoderma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001480 MONDO:0005447 True malignant tumor of undescended testis testicular cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001481 MONDO:0002800 True femoral vein thrombophlebitis thrombophlebitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001472 MONDO:0005447 True testicular lymphoma testicular cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001476 MONDO:0005328 True coloboma eye disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001479 MONDO:0021201 True cutaneous diphtheria skin infection UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0001482 MONDO:0005059 True testicular leukemia leukemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001482 MONDO:0005447 True testicular leukemia testicular cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001484 MONDO:0005090 True paranoid schizophrenia schizophrenia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001485 MONDO:0005371 True atypical depressive disorder mood disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001488 MONDO:0001308 True anterior corneal pigmentation corneal deposit UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001490 MONDO:0000764 True corneal granular dystrophy epithelial-stromal TGFBI dystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001491 MONDO:0004979 True cough variant asthma asthma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001492 MONDO:0001493 True kyphoscoliotic heart disease chronic pulmonary heart disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001493 MONDO:0004596 True chronic pulmonary heart disease cor pulmonale UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001495 MONDO:0003150 True hematocele of tunica vaginalis testis male reproductive system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001496 MONDO:0003150 True male genital organ stricture male reproductive system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001497 MONDO:0003150 True male genital organ vascular disease male reproductive system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001498 MONDO:0004869 True varicocele pelvic varices UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001499 MONDO:0005062 True retroperitoneal lymphoma lymphoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001499 MONDO:0005941 True retroperitoneal lymphoma retroperitoneal cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001501 MONDO:0005941 True retroperitoneal sarcoma retroperitoneal cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001482 MONDO:0005447 True testicular leukemia testicular cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001484 MONDO:0005090 True paranoid schizophrenia schizophrenia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001491 MONDO:0004979 True cough variant asthma asthma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001499 MONDO:0005062 True retroperitoneal lymphoma lymphoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001499 MONDO:0005941 True retroperitoneal lymphoma retroperitoneal cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001501 MONDO:0005941 True retroperitoneal sarcoma retroperitoneal cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0001501 MONDO:0018078 True retroperitoneal sarcoma soft tissue sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001502 MONDO:0004993 True retroperitoneum carcinoma carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001502 MONDO:0005941 True retroperitoneum carcinoma retroperitoneal cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001503 MONDO:0004390 True primary eye hypotony ocular hypotension UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001504 MONDO:0000596 True fetishistic disorder paraphilic disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001505 MONDO:0002251 True alcoholic hepatitis hepatitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001506 MONDO:0006032 True prostatocystitis cystitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001507 MONDO:0002008 True viral labyrinthitis labyrinthitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001507 MONDO:0005108 True viral labyrinthitis viral infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001508 MONDO:0004866 True patulous eustachian tube eustachian tube disorder UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001509 MONDO:0004751 True endocrine exophthalmos disease of orbital part of eye adnexa UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001510 MONDO:0004751 True lateral displacement of eye disease of orbital part of eye adnexa UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001511 MONDO:0001509 True thyrotoxic exophthalmos endocrine exophthalmos UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001512 MONDO:0004751 True intermittent proptosis disease of orbital part of eye adnexa UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001513 MONDO:0004751 True pulsating exophthalmos disease of orbital part of eye adnexa UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001514 MONDO:0001592 True prolapse of urethra prolapse of female genital organ SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001514 MONDO:0004184 True prolapse of urethra urethral disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001515 MONDO:0000942 True corneal degeneration corneal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001516 MONDO:0020128 True spinal muscular atrophy motor neuron disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001517 MONDO:0000916 True dysentery intestinal infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001518 MONDO:0001519 True spastic entropion entropion UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001519 MONDO:0003382 True entropion eyelid disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001520 MONDO:0001162 True kleptomania impulse control disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001521 MONDO:0001162 True intermittent explosive disorder impulse control disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001522 MONDO:0001162 True pyromania impulse control disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001523 MONDO:0005328 True luxation of globe eye disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001525 MONDO:0003240 True thyrocalcitonin secretion disease thyroid gland disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001526 MONDO:0001528 True labia minora cancer vulva cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001526 MONDO:0002898 True labia minora cancer skin cancer UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001527 MONDO:0003432 True conjugate gaze palsy strabismus UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001528 MONDO:0001416 True vulva cancer female reproductive organ cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001502 MONDO:0004993 True retroperitoneum carcinoma carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001502 MONDO:0005941 True retroperitoneum carcinoma retroperitoneal cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001505 MONDO:0002251 True alcoholic hepatitis hepatitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001505 MONDO:0043693 True alcoholic hepatitis alcoholic liver diseases UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0001514 MONDO:0001592 True prolapse of urethra prolapse of female genital organ SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001520 MONDO:0001162 True kleptomania impulse control disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001521 MONDO:0001162 True intermittent explosive disorder impulse control disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001522 MONDO:0001162 True pyromania impulse control disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001526 MONDO:0001528 True labia minora cancer vulva cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001528 MONDO:0001416 True vulva cancer female reproductive organ cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0001528 MONDO:0021049 True vulva cancer vulvar neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001529 MONDO:0002280 True pancytopenia anemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0001530 MONDO:0001343 True secondary hyperparathyroidism of renal origin impaired renal function disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001530 MONDO:0006964 True secondary hyperparathyroidism of renal origin secondary hyperparathyroidism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001531 MONDO:0005570 True blood coagulation disease hematologic disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001533 MONDO:0002183 True pes anserinus tendinitis or bursitis enthesopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001534 MONDO:0006170 True ocular hyperemia conjunctival disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001535 MONDO:0002639 True vagus nerve disorder glossopharyngeal nerve disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001536 MONDO:0000647 True vaginal leiomyoma benign vaginal neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001536 MONDO:0001572 True vaginal leiomyoma leiomyoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001538 MONDO:0005053 True retinal ischemia ischemic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001538 MONDO:0005283 True retinal ischemia retinal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001539 MONDO:0008375 True retinal perforation retinal detachment UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001540 MONDO:0017853 True bagassosis hypersensitivity pneumonitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001542 MONDO:0004797 True common peroneal nerve lesion mononeuritis of lower limb UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001544 MONDO:0004797 True tibial nerve palsy mononeuritis of lower limb UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001546 MONDO:0005095 True hypermobility of coccyx spondyloarthropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001547 MONDO:0003648 True atrophic nonflaccid tympanic membrane tympanic membrane disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001548 MONDO:0001711 True hepatic coma hepatic encephalopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001551 MONDO:0002187 True ulceration of vulva vulvar disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001552 MONDO:0004681 True dyscalculia learning disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001553 MONDO:0001554 True phacolytic glaucoma phacogenic glaucoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001554 MONDO:0005041 True phacogenic glaucoma glaucoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001555 MONDO:0010138 True neonatal thyrotoxicosis thyrotoxicosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001556 MONDO:0004184 True urethral obstruction urethral disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001557 MONDO:0002183 True olecranon bursitis enthesopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001557 MONDO:0002471 True olecranon bursitis bursitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001559 MONDO:0001592 True perineocele prolapse of female genital organ SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001560 MONDO:0001561 True hypertrophic pyloric stenosis pyloric stenosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001561 MONDO:0004298 True pyloric stenosis stomach disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001562 MONDO:0007721 True displacement of cardia through esophageal hiatus hiatus hernia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001563 MONDO:0002453 True vestibulocochlear nerve disorder retrocochlear disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001563 MONDO:0003569 True vestibulocochlear nerve disorder cranial nerve neuropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001563 MONDO:0003620 True vestibulocochlear nerve disorder peripheral nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001565 MONDO:0001564 True abnormal retinal correspondence binocular vision disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001566 MONDO:0005557 True hypercalcemia disease calcium metabolic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001567 MONDO:0005240 True nephrocalcinosis kidney disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001569 MONDO:0002546 True acoustic neuroma schwannoma UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001571 MONDO:0002145 True gynecomastia disorder disorder of sexual differentiation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001531 MONDO:0005570 True blood coagulation disease hematologic disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001536 MONDO:0000647 True vaginal leiomyoma benign vaginal neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001536 MONDO:0001572 True vaginal leiomyoma leiomyoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001540 MONDO:0017853 True bagassosis hypersensitivity pneumonitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001549 MONDO:0001531 True hemolytic-uremic syndrome blood coagulation disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001552 MONDO:0004681 True dyscalculia learning disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001555 MONDO:0010138 True neonatal thyrotoxicosis thyrotoxicosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001558 MONDO:0002254 True Potter sequence syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001559 MONDO:0001592 True perineocele prolapse of female genital organ SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001560 MONDO:0001561 True hypertrophic pyloric stenosis pyloric stenosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001561 MONDO:0004298 True pyloric stenosis stomach disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001563 MONDO:0003569 True vestibulocochlear nerve disorder cranial nerve neuropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001564 MONDO:0021084 True binocular vision disease vision disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0001567 MONDO:0005240 True nephrocalcinosis kidney disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001568 MONDO:0004750 True mixed receptive-expressive language disorder language disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001569 MONDO:0002546 True acoustic neuroma schwannoma UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0001572 MONDO:0006106 True leiomyoma benign smooth muscle neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001574 MONDO:0005385 True capillary disorder vascular disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001575 MONDO:0003617 True chronic gonococcal salpingitis chronic salpingitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001576 MONDO:0005294 True telangiectasis peripheral vascular disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001579 MONDO:0000942 True corneal staphyloma corneal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001580 MONDO:0002460 True lacrimal duct cancer lacrimal system cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001582 MONDO:0002043 True cicatricial ectropion ectropion UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001583 MONDO:0006626 True diabetic polyneuropathy diabetic neuropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001584 MONDO:0003569 True ocular motility disease cranial nerve neuropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001585 MONDO:0002491 True hallucinogen abuse substance abuse UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001586 MONDO:0019249 True mucopolysaccharidosis type 1 mucopolysaccharidosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001588 MONDO:0004804 True chronic lacrimal gland enlargement dacryoadenitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001591 MONDO:0001519 True senile entropion entropion UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001592 MONDO:0002263 True prolapse of female genital organ female reproductive system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001594 MONDO:0002471 True Achilles bursitis bursitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001595 MONDO:0005395 True choreatic disease movement disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001596 MONDO:0003117 True hypochondriasis somatoform disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001597 MONDO:0001142 True submandibular gland disorder salivary gland disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001598 MONDO:0001142 True benign lymphoepithelial lesion of salivary gland salivary gland disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001600 MONDO:0001142 True mucocele of salivary gland salivary gland disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001601 MONDO:0005136 True Plasmodium ovale malaria malaria SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001576 MONDO:0021658 True telangiectasis vascular ectasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0001577 MONDO:0024352 True respiratory syncytial virus infectious disease viral respiratory tract infection UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0001580 MONDO:0002460 True lacrimal duct cancer lacrimal system cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001586 MONDO:0019249 True mucopolysaccharidosis type 1 mucopolysaccharidosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001595 MONDO:0005395 True choreatic disease movement disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001598 MONDO:0001142 True benign lymphoepithelial lesion of salivary gland salivary gland disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001601 MONDO:0005136 True Plasmodium ovale malaria malaria SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0001602 MONDO:0001526 True labia minora carcinoma labia minora cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001602 MONDO:0005215 True labia minora carcinoma vulvar carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001603 MONDO:0001604 True paralytic lagophthalmos lagophthalmos UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001604 MONDO:0003382 True lagophthalmos eyelid disorder UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001602 MONDO:0005215 True labia minora carcinoma vulvar carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0001606 MONDO:0003641 True central nervous system leukemia central nervous system hematopoietic neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0001606 MONDO:0005059 True central nervous system leukemia leukemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001607 MONDO:0001082 True intrapelvic lymph node leukemic reticuloendotheliosis lymph node cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0001608 MONDO:0001535 True vagus nerve neoplasm vagus nerve disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001609 MONDO:0003785 True agranulocytosis leukopenia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001610 MONDO:0004926 True acute dacryocystitis dacryocystitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001611 MONDO:0004926 True phlegmonous dacryocystitis dacryocystitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001612 MONDO:0005269 True carotid stenosis carotid artery disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001614 MONDO:0001082 True intra-abdominal lymph node mast cell malignancy lymph node cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001615 MONDO:0004768 True epidemic keratoconjunctivitis keratoconjunctivitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001616 MONDO:0002040 True lobomycosis dermatomycosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001617 MONDO:0001152 True transient global amnesia amnestic disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001620 MONDO:0019633 True louse-borne relapsing fever relapsing fever SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001621 MONDO:0019633 True tick-borne relapsing fever relapsing fever SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001622 MONDO:0001604 True mechanical lagophthalmos lagophthalmos SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001623 MONDO:0001604 True cicatricial lagophthalmos lagophthalmos SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001624 MONDO:0005964 True acute sphenoidal sinusitis sphenoid sinusitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001625 MONDO:0003282 True corpus luteum cyst ovarian cyst UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001626 MONDO:0005041 True traumatic glaucoma glaucoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001627 MONDO:0002039 True dementia cognitive disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001628 MONDO:0004678 True tinea unguium dermatophytosis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001629 MONDO:0007179 True Jaccoud syndrome autoimmune disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001630 MONDO:0006948 True branch retinal artery occlusion retinal artery occlusion UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001631 MONDO:0000473 True vertebral artery insufficiency arterial disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001631 MONDO:0002254 True vertebral artery insufficiency syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001631 MONDO:0005264 True vertebral artery insufficiency transient ischemic attack UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001632 MONDO:0002277 True intracranial arteriosclerosis arteriosclerosis disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001633 MONDO:0006948 True central retinal artery occlusion retinal artery occlusion UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001634 MONDO:0000384 True bladder leiomyoma bladder benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001634 MONDO:0001572 True bladder leiomyoma leiomyoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001635 MONDO:0000384 True bladder squamous papilloma bladder benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001609 MONDO:0003785 True agranulocytosis leukopenia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001612 MONDO:0005269 True carotid stenosis carotid artery disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001615 MONDO:0004768 True epidemic keratoconjunctivitis keratoconjunctivitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001620 MONDO:0019633 True louse-borne relapsing fever relapsing fever SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001621 MONDO:0006956 True tick-borne relapsing fever Rickettsiosis UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0001621 MONDO:0019633 True tick-borne relapsing fever relapsing fever SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001622 MONDO:0001604 True mechanical lagophthalmos lagophthalmos SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001623 MONDO:0001604 True cicatricial lagophthalmos lagophthalmos SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001627 MONDO:0002039 True dementia cognitive disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001628 MONDO:0004678 True tinea unguium dermatophytosis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001628 MONDO:0024487 True tinea unguium nail infection UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0001630 MONDO:0006948 True branch retinal artery occlusion retinal artery occlusion UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001631 MONDO:0000473 True vertebral artery insufficiency arterial disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001631 MONDO:0002254 True vertebral artery insufficiency syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001633 MONDO:0006948 True central retinal artery occlusion retinal artery occlusion UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001633 MONDO:0020673 True central retinal artery occlusion arterial occlusion UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0001634 MONDO:0000384 True bladder leiomyoma bladder benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001634 MONDO:0001572 True bladder leiomyoma leiomyoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001635 MONDO:0000384 True bladder squamous papilloma bladder benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0001635 MONDO:0001825 True bladder squamous papilloma squamous papilloma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001636 MONDO:0001519 True mechanical entropion entropion UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001637 MONDO:0001519 True cicatricial entropion entropion UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001638 MONDO:0001639 True protein-deficiency anemia deficiency anemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001639 MONDO:0002280 True deficiency anemia anemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001640 MONDO:0003937 True gonococcal spondylitis spondylitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001641 MONDO:0005081 True severe pre-eclampsia preeclampsia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001643 MONDO:0003425 True exophthalmic ophthalmoplegia ophthalmoplegia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001645 MONDO:0001644 True crescentic glomerulonephritis acute proliferative glomerulonephritis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001646 MONDO:0001200 True benign secondary hypertension secondary hypertension UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001647 MONDO:0001105 True benign renovascular hypertension renal hypertension UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001647 MONDO:0001646 True benign renovascular hypertension benign secondary hypertension UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001648 MONDO:0002026 True esophageal candidiasis candidiasis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001649 MONDO:0001409 True fungal esophagitis esophagitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001649 MONDO:0002041 True fungal esophagitis fungal infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001650 MONDO:0006032 True acute cystitis cystitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001651 MONDO:0002650 True scrotum squamous cell carcinoma scrotal carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001651 MONDO:0005096 True scrotum squamous cell carcinoma squamous cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001652 MONDO:0003319 True scrotum melanoma scrotum neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001652 MONDO:0005105 True scrotum melanoma melanoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001653 MONDO:0002898 True prepuce cancer skin cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001654 MONDO:0005836 True spermatic cord cancer male reproductive organ cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001655 MONDO:0004843 True dissociated nystagmus pathologic nystagmus UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001656 MONDO:0003749 True megaesophagus esophageal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001657 MONDO:0002714 True brain cancer central nervous system cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001641 MONDO:0005081 True severe pre-eclampsia preeclampsia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001648 MONDO:0001649 True esophageal candidiasis fungal esophagitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001648 MONDO:0002026 True esophageal candidiasis candidiasis SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001649 MONDO:0001409 True fungal esophagitis esophagitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001649 MONDO:0002041 True fungal esophagitis fungal infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001649 MONDO:0043424 True fungal esophagitis digestive system infectious disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0001650 MONDO:0006032 True acute cystitis cystitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001651 MONDO:0002650 True scrotum squamous cell carcinoma scrotal carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001651 MONDO:0005096 True scrotum squamous cell carcinoma squamous cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001652 MONDO:0003319 True scrotum melanoma scrotum neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001652 MONDO:0005105 True scrotum melanoma melanoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001654 MONDO:0005836 True spermatic cord cancer male reproductive organ cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001656 MONDO:0003749 True megaesophagus esophageal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001657 MONDO:0002714 True brain cancer central nervous system cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0001657 MONDO:0021211 True brain cancer brain neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001658 MONDO:0005397 True nontoxic goiter goiter UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001660 MONDO:0005266 True proliferative diabetic retinopathy diabetic retinopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001661 MONDO:0005266 True background diabetic retinopathy diabetic retinopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001663 MONDO:0002175 True hole retinal cyst degeneration of macula and posterior pole UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001664 MONDO:0007886 True submucous uterine fibroid uterine corpus leiomyoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001665 MONDO:0018077 True oculoglandular tularemia tularemia SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001666 MONDO:0019118 True retinal dystrophies primarily involving Bruch's membrane inherited retinal dystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001668 MONDO:0001670 True internal pathological resorption of tooth tooth resorption UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001670 MONDO:0002220 True tooth resorption tooth hard tissue disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001671 MONDO:0005020 True mucocele of appendix intestinal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001672 MONDO:0000376 True bronchus cancer respiratory system cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001673 MONDO:0004335 True diarrheal disease digestive system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001674 MONDO:0003409 True diverticulitis of colon colonic disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001674 MONDO:0004235 True diverticulitis of colon diverticulitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001676 MONDO:0002520 True erythropoietic protoporphyria hepatic porphyria UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001676 MONDO:0019142 True erythropoietic protoporphyria inherited porphyria UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001678 MONDO:0005768 True intestinal tuberculosis gastrointestinal tuberculosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001680 MONDO:0000647 True vaginal mullerian papilloma benign vaginal neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001658 MONDO:0005397 True nontoxic goiter goiter UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001660 MONDO:0005266 True proliferative diabetic retinopathy diabetic retinopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001661 MONDO:0005266 True background diabetic retinopathy diabetic retinopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001665 MONDO:0018077 True oculoglandular tularemia tularemia SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001680 MONDO:0000647 True vaginal mullerian papilloma benign vaginal neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0001680 MONDO:0001704 True vaginal mullerian papilloma vaginal glandular neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0001680 MONDO:0021078 True vaginal mullerian papilloma glandular papilloma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001681 MONDO:0006032 True diphtheritic cystitis cystitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001682 MONDO:0004522 True diphtheritic peritonitis peritonitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001683 MONDO:0002356 True pancreatic mucinous ductal ectasia pancreas disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001684 MONDO:0002356 True exocrine pancreatic insufficiency pancreas disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001685 MONDO:0002314 True chronic follicular conjunctivitis chronic conjunctivitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001686 MONDO:0004744 True anatomical narrow angle borderline glaucoma borderline glaucoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001687 MONDO:0005129 True diabetic cataract cataract UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001688 MONDO:0005885 True toxic optic neuropathy optic neuritis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001689 MONDO:0001165 True hypertrophy of tongue papillae tongue disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001690 MONDO:0002314 True parasitic conjunctivitis chronic conjunctivitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001691 MONDO:0002352 True laryngeal cartilage cancer larynx cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001692 MONDO:0000596 True pedophilia paraphilic disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001694 MONDO:0004902 True diffuse interstitial keratitis interstitial keratitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001695 MONDO:0002043 True senile ectropion ectropion UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001697 MONDO:0004681 True reading disorder learning disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001698 MONDO:0004678 True tinea profunda dermatophytosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001699 MONDO:0004678 True tinea manuum dermatophytosis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001700 MONDO:0002281 True megaloblastic anemia macrocytic anemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001701 MONDO:0005119 True gastrointestinal anthrax anthrax infection UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001683 MONDO:0002356 True pancreatic mucinous ductal ectasia pancreas disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001684 MONDO:0002356 True exocrine pancreatic insufficiency pancreas disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001688 MONDO:0005885 True toxic optic neuropathy optic neuritis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001699 MONDO:0004678 True tinea manuum dermatophytosis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001700 MONDO:0002281 True megaloblastic anemia macrocytic anemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0001702 MONDO:0001403 True labia majora carcinoma labium majus cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001702 MONDO:0005215 True labia majora carcinoma vulvar carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001703 MONDO:0001941 True color vision disorder blindness (disorder) UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001702 MONDO:0005215 True labia majora carcinoma vulvar carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001703 MONDO:0001941 True color vision disorder blindness (disorder) UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0001704 MONDO:0021050 True vaginal glandular neoplasm vaginal neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0001704 MONDO:0024276 True vaginal glandular neoplasm glandular cell neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001705 MONDO:0002280 True pure red-cell aplasia anemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001707 MONDO:0019338 True cardiac sarcoidosis sarcoidosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001708 MONDO:0019338 True pulmonary sarcoidosis sarcoidosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001709 MONDO:0019338 True hypercalcemic sarcoidosis sarcoidosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001711 MONDO:0005560 True hepatic encephalopathy brain disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001713 MONDO:0015909 True inherited aplastic anemia aplastic anemia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001716 MONDO:0000942 True corneal argyrosis corneal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001717 MONDO:0001308 True posterior corneal pigmentation corneal deposit UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001718 MONDO:0001269 True scleritis scleral disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001719 MONDO:0002471 True gonococcal bursitis bursitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001720 MONDO:0002400 True gonococcal synovitis synovitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001721 MONDO:0004184 True urethral intrinsic sphincter deficiency urethral disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001722 MONDO:0001723 True central pterygium progressive peripheral pterygium UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001723 MONDO:0001055 True progressive peripheral pterygium conjunctival pterygium UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001724 MONDO:0002352 True supraglottis cancer larynx cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001707 MONDO:0019338 True cardiac sarcoidosis sarcoidosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001708 MONDO:0019338 True pulmonary sarcoidosis sarcoidosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001709 MONDO:0019338 True hypercalcemic sarcoidosis sarcoidosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001711 MONDO:0005560 True hepatic encephalopathy brain disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001718 MONDO:0001269 True scleritis scleral disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001724 MONDO:0002352 True supraglottis cancer larynx cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0001724 MONDO:0004427 True supraglottis cancer supraglottis neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001725 MONDO:0006672 True balanitis xerotica obliterans balanitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001727 MONDO:0007972 True active cochleovestibular Meniere disease Meniere disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001728 MONDO:0007972 True active vestibular Meniere disease Meniere disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001729 MONDO:0007972 True active cochlear Meniere disease Meniere disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001730 MONDO:0004184 True urethral syndrome urethral disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001731 MONDO:0000647 True benign vaginal mixed epithelial and mesenchymal neoplasm benign vaginal neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001732 MONDO:0006032 True trigonitis cystitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001734 MONDO:0000426 True tuberous sclerosis autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001734 MONDO:0015356 True tuberous sclerosis hereditary neoplastic syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001735 MONDO:0002436 True paranasal sinus disorder nasal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001735 MONDO:0005087 True paranasal sinus disorder respiratory system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001736 MONDO:0006849 True neonatal infective mastitis mastitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001737 MONDO:0005526 True tetanus neonatorum tetanus UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001739 MONDO:0002008 True purulent labyrinthitis labyrinthitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001725 MONDO:0006672 True balanitis xerotica obliterans balanitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001731 MONDO:0000647 True benign vaginal mixed epithelial and mesenchymal neoplasm benign vaginal neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001732 MONDO:0006032 True trigonitis cystitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001734 MONDO:0015356 True tuberous sclerosis hereditary neoplastic syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0001734 MONDO:0042983 True tuberous sclerosis neurocutaneous syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0001737 MONDO:0005526 True tetanus neonatorum tetanus UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0001740 MONDO:0002466 True cornea squamous cell carcinoma eye carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001740 MONDO:0003802 True cornea squamous cell carcinoma cornea cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001741 MONDO:0001223 True hyperparathyroidism parathyroid gland disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001742 MONDO:0001868 True interval angle-closure glaucoma primary angle-closure glaucoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001740 MONDO:0003802 True cornea squamous cell carcinoma cornea cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001741 MONDO:0001223 True hyperparathyroidism parathyroid gland disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0001743 MONDO:0020669 True paranasal sinus lymphoma paranasal sinus cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001744 MONDO:0005041 True angle-closure glaucoma glaucoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001745 MONDO:0007886 True subserous uterine fibroid uterine corpus leiomyoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001746 MONDO:0002135 True optic disk drusen optic nerve disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001747 MONDO:0002183 True tibial collateral ligament bursitis enthesopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001748 MONDO:0000380 True maxillary sinus carcinoma paranasal sinus carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001748 MONDO:0000380 True maxillary sinus carcinoma paranasal sinus carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0001748 MONDO:0006850 True maxillary sinus carcinoma maxillary sinus neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001749 MONDO:0004847 True cortical senile cataract senile cataract UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001751 MONDO:0002887 True cholestasis bile duct disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001752 MONDO:0004934 True alveolar periostitis periostitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001753 MONDO:0002654 True female infertility of uterine origin uterine disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001756 MONDO:0000380 True frontal sinus cancer paranasal sinus carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001754 MONDO:0045048 True eclampsia toxemia of pregnancy UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0001756 MONDO:0001757 True frontal sinus cancer frontal sinus neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001757 MONDO:0005289 True frontal sinus neoplasm paranasal sinus neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001758 MONDO:0000380 True paranasal sinus sarcoma paranasal sinus carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001757 MONDO:0005289 True frontal sinus neoplasm paranasal sinus neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0001758 MONDO:0018078 True paranasal sinus sarcoma soft tissue sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001760 MONDO:0003085 True photokeratitis keratitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001761 MONDO:0005775 True favism G6PD deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001762 MONDO:0002325 True dentine erosion tooth erosion, non-bacterial UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001763 MONDO:0000380 True ethmoid sinus cancer paranasal sinus carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001760 MONDO:0003085 True photokeratitis keratitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0001763 MONDO:0001764 True ethmoid sinus cancer ethmoidal sinus neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001764 MONDO:0005289 True ethmoidal sinus neoplasm paranasal sinus neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001765 MONDO:0001824 True polyneuropathy in collagen vascular disease polyneuropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001766 MONDO:0001854 True eversion of lacrimal punctum lacrimal apparatus disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001767 MONDO:0001854 True stenosis of lacrimal punctum lacrimal apparatus disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001768 MONDO:0001854 True stenosis of lacrimal passage lacrimal apparatus disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001770 MONDO:0001933 True gastrin secretion abnormality endocrine pancreas disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001771 MONDO:0002127 True infective urethral stricture urethral stricture UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001772 MONDO:0001593 True ulcer of anus and rectum rectal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001773 MONDO:0019956 True post-vaccinal encephalitis encephalitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001774 MONDO:0001718 True posterior scleritis scleritis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001775 MONDO:0002688 True chronic duodenal ileus duodenal obstruction UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001776 MONDO:0003105 True prostate calculus prostate disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001776 MONDO:0004828 True prostate calculus lower urinary tract calculus UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001777 MONDO:0001650 True acute gonococcal cystitis acute cystitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001778 MONDO:0002378 True dermoid cyst of skin dermoid cyst UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001778 MONDO:0002531 True dermoid cyst of skin skin neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001779 MONDO:0000647 True vaginal squamous papilloma benign vaginal neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001764 MONDO:0005289 True ethmoidal sinus neoplasm paranasal sinus neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001778 MONDO:0002378 True dermoid cyst of skin dermoid cyst UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001778 MONDO:0002531 True dermoid cyst of skin skin neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001779 MONDO:0000647 True vaginal squamous papilloma benign vaginal neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0001779 MONDO:0001806 True vaginal squamous papilloma vaginal squamous tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0001779 MONDO:0001825 True vaginal squamous papilloma squamous papilloma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001780 MONDO:0000595 True premature ejaculation sexual and gender identity disorders UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001780 MONDO:0000595 True premature ejaculation sexual and gender identity disorders UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0001781 MONDO:0004230 True uterine corpus adenomatoid tumor adenomatoid tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0001781 MONDO:0021525 True uterine corpus adenomatoid tumor benign neoplasm of corpus uteri UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001782 MONDO:0005129 True mature cataract cataract UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0001783 MONDO:0021525 True endometrial stromal nodule benign neoplasm of corpus uteri UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0001783 MONDO:0044335 True endometrial stromal nodule benign soft tissue neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001784 MONDO:0001105 True malignant renovascular hypertension renal hypertension UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001784 MONDO:0001785 True malignant renovascular hypertension malignant secondary hypertension UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001785 MONDO:0001200 True malignant secondary hypertension secondary hypertension UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001786 MONDO:0002654 True uterine inflammatory disease uterine disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001787 MONDO:0002405 True hepatic infarction hepatic vascular disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001788 MONDO:0002405 True nutmeg liver hepatic vascular disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001789 MONDO:0016755 True neurofibroma of spinal cord neurofibroma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001789 MONDO:0016755 True neurofibroma of spinal cord neurofibroma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0001789 MONDO:0021234 True neurofibroma of spinal cord spinal cord neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001790 MONDO:0003844 True spinal cord lipoma central nervous system lipoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001790 MONDO:0003844 True spinal cord lipoma central nervous system lipoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0001790 MONDO:0021506 True spinal cord lipoma benign neoplasm of spinal cord UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001792 MONDO:0001793 True epiphora due to insufficient drainage excessive tearing UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001793 MONDO:0001854 True excessive tearing lacrimal apparatus disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001794 MONDO:0003472 True Pthirus pubis infestation lice infestation UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001794 MONDO:0021201 True Pthirus pubis infestation skin infection UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0001795 MONDO:0024666 True plantar wart benign epithelial skin neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001797 MONDO:0000314 True chancroid primary bacterial infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001798 MONDO:0006816 True hypermobility syndrome arthropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001799 MONDO:0001269 True localized anterior staphyloma scleral disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001800 MONDO:0001269 True equatorial staphyloma scleral disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001801 MONDO:0001269 True staphyloma posticum scleral disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001803 MONDO:0003648 True myringitis bullosa hemorrhagica tympanic membrane disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001804 MONDO:0001718 True anterior scleritis scleritis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001805 MONDO:0004379 True female breast central part cancer female breast carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0001806 MONDO:0002532 True vaginal squamous tumor squamous cell neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0001806 MONDO:0021050 True vaginal squamous tumor vaginal neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001808 MONDO:0002654 True chronic subinvolution of uterus uterine disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001809 MONDO:0002654 True adhesions of uterus uterine disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001810 MONDO:0003569 True hypoglossal nerve disorder cranial nerve neuropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001810 MONDO:0003620 True hypoglossal nerve disorder peripheral nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001811 MONDO:0005129 True tetanic cataract cataract UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001812 MONDO:0004785 True parasitic eyelid infestation blepharitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001813 MONDO:0004785 True squamous blepharitis blepharitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001815 MONDO:0005395 True extrapyramidal and movement disease movement disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001816 MONDO:0001718 True scleroperikeratitis scleritis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001817 MONDO:0001868 True acute closed-angle glaucoma primary angle-closure glaucoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001818 MONDO:0002098 True facial neuralgia facial nerve disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001820 MONDO:0002008 True focal labyrinthitis labyrinthitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001821 MONDO:0000947 True hypoactive sexual desire disorder psychosexual disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001822 MONDO:0002525 True hypolipoproteinemia inherited lipid metabolism disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001823 MONDO:0000469 True sick sinus syndrome sinoatrial node disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001825 MONDO:0002363 True squamous papilloma papilloma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001828 MONDO:0001703 True acquired color blindness color vision disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001830 MONDO:0003117 True somatization disorder somatoform disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001831 MONDO:0011284 True irregular astigmatism astigmatism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001832 MONDO:0001409 True bacterial esophagitis esophagitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001836 MONDO:0002263 True amenorrhea female reproductive system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001837 MONDO:0001173 True acute gonococcal salpingitis acute salpingitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001841 MONDO:0007886 True uterine corpus epithelioid leiomyoma uterine corpus leiomyoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001842 MONDO:0007886 True uterine corpus dissecting leiomyoma uterine corpus leiomyoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001843 MONDO:0007886 True uterus interstitial leiomyoma uterine corpus leiomyoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001844 MONDO:0007886 True uterine corpus myxoid leiomyoma uterine corpus leiomyoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001845 MONDO:0007886 True uterine corpus lipoleiomyoma uterine corpus leiomyoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001810 MONDO:0003569 True hypoglossal nerve disorder cranial nerve neuropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001811 MONDO:0005129 True tetanic cataract cataract UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001823 MONDO:0002254 True sick sinus syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001824 MONDO:0005244 True polyneuropathy peripheral neuropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001825 MONDO:0002363 True squamous papilloma papilloma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001828 MONDO:0001703 True acquired color blindness color vision disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001832 MONDO:0001409 True bacterial esophagitis esophagitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001834 MONDO:0021084 True visual pathway disorder vision disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0001836 MONDO:0002263 True amenorrhea female reproductive system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001841 MONDO:0007886 True uterine corpus epithelioid leiomyoma uterine corpus leiomyoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001842 MONDO:0007886 True uterine corpus dissecting leiomyoma uterine corpus leiomyoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001844 MONDO:0007886 True uterine corpus myxoid leiomyoma uterine corpus leiomyoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001845 MONDO:0007886 True uterine corpus lipoleiomyoma uterine corpus leiomyoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0001846 MONDO:0003288 True uterine corpus bizarre leiomyoma bizarre leiomyoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0001846 MONDO:0007886 True uterine corpus bizarre leiomyoma uterine corpus leiomyoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001847 MONDO:0004847 True nuclear senile cataract senile cataract UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001849 MONDO:0004751 True chronic orbital inflammation disease of orbital part of eye adnexa UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001850 MONDO:0004379 True female breast lower-outer quadrant cancer female breast carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001851 MONDO:0001854 True primary lacrimal atrophy lacrimal apparatus disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001852 MONDO:0000956 True small intestine lymphoma small intestine cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001852 MONDO:0000956 True small intestine lymphoma small intestine cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0001852 MONDO:0004699 True small intestine lymphoma gastrointestinal lymphoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001853 MONDO:0002307 True contact blepharoconjunctivitis blepharoconjunctivitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001854 MONDO:0005328 True lacrimal apparatus disorder eye disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001855 MONDO:0005283 True rubeosis iridis retinal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001856 MONDO:0000473 True splenic artery aneurysm arterial disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001857 MONDO:0005683 True Brucella canis brucellosis brucellosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001858 MONDO:0002254 True Tietze syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001859 MONDO:0019369 True algoneurodystrophy complex regional pain syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001860 MONDO:0006873 True folic acid deficiency anemia nutritional deficiency disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001861 MONDO:0006294 True malignant parietal pleura tumor pleural cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001862 MONDO:0006294 True malignant visceral pleura tumor pleural cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001863 MONDO:0005561 True aorta atresia aortic disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001864 MONDO:0001868 True residual stage angle-closure glaucoma primary angle-closure glaucoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001866 MONDO:0004985 True bipolar I disorder bipolar disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001868 MONDO:0001744 True primary angle-closure glaucoma angle-closure glaucoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001870 MONDO:0002462 True acute poststreptococcal glomerulonephritis glomerulonephritis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001871 MONDO:0003137 True acute diffuse glomerulonephritis diffuse glomerulonephritis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001873 MONDO:0002098 True geniculate ganglionitis facial nerve disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001874 MONDO:0002008 True toxic labyrinthitis labyrinthitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001875 MONDO:0002614 True epicondylitis bone inflammation disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001876 MONDO:0002286 True renal artery atheroma renal artery disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001877 MONDO:0005372 True infertility due to extratesticular cause male infertility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001854 MONDO:0005328 True lacrimal apparatus disorder eye disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001871 MONDO:0003137 True acute diffuse glomerulonephritis diffuse glomerulonephritis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001873 MONDO:0002098 True geniculate ganglionitis facial nerve disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0001879 MONDO:0003046 True anus cancer anus neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001880 MONDO:0006771 True median rhomboid glossitis glossitis UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001881 MONDO:0000315 True toxic shock syndrome commensal bacterial infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001882 MONDO:0002118 True bacteriuria urinary system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001883 MONDO:0005568 True blue toe syndrome cholesterol embolism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001881 MONDO:0002254 True toxic shock syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0001884 MONDO:0002633 True abducens nerve neoplasm cranial nerve neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0001884 MONDO:0020594 True abducens nerve neoplasm abducens nerve disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001885 MONDO:0001592 True lateral cystocele prolapse of female genital organ SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001886 MONDO:0001592 True midline cystocele prolapse of female genital organ SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001887 MONDO:0002263 True Allen-Masters syndrome female reproductive system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001888 MONDO:0001879 True anus lymphoma anus cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001889 MONDO:0005558 True ovarian dysfunction ovarian disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001890 MONDO:0002325 True pulp erosion tooth erosion, non-bacterial UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001885 MONDO:0001592 True lateral cystocele prolapse of female genital organ SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001886 MONDO:0001592 True midline cystocele prolapse of female genital organ SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001888 MONDO:0001879 True anus lymphoma anus cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001889 MONDO:0005558 True ovarian dysfunction ovarian disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0001892 MONDO:0002571 True spinal cord lymphoma primary central nervous system lymphoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001892 MONDO:0003544 True spinal cord lymphoma spinal cord cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001893 MONDO:0003544 True spinal cord melanoma spinal cord cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001892 MONDO:0003544 True spinal cord lymphoma spinal cord cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001893 MONDO:0003544 True spinal cord melanoma spinal cord cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0001893 MONDO:0016747 True spinal cord melanoma primary melanoma of the central nervous system UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0001894 MONDO:0002217 True spinal cord sarcoma central nervous system sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001894 MONDO:0003544 True spinal cord sarcoma spinal cord cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001896 MONDO:0001150 True obstructive hydrocephalus hydrocephalus SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001897 MONDO:0002467 True bilateral hyperactive labyrinth inner ear disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001898 MONDO:0002661 True optic choroid disorder uveal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001899 MONDO:0005009 True rheumatic congestive heart failure congestive heart failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001903 MONDO:0004857 True calcific tendinitis tendinitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001905 MONDO:0004855 True bicipital tenosynovitis tenosynovitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001907 MONDO:0016367 True adult dermatomyositis dermatomyositis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001909 MONDO:0006510 True renal tubular acidosis renal tubular transport disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001910 MONDO:0003900 True ochronosis disorder connective tissue disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001911 MONDO:0002567 True tracheal calcification tracheal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001912 MONDO:0001121 True acute frontal sinusitis frontal sinusitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001913 MONDO:0005372 True oligospermia male infertility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001915 MONDO:0004751 True orbital cyst disease of orbital part of eye adnexa UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001916 MONDO:0018077 True gastrointestinal tularemia tularemia SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001917 MONDO:0002246 True chronic perichondritis of pinna perichondritis of auricle UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001918 MONDO:0001793 True epiphora due to excess lacrimation excessive tearing UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001919 MONDO:0002175 True cystoid macular retinal degeneration degeneration of macula and posterior pole UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001920 MONDO:0005975 True chronic purulent otitis media suppurative otitis media UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001921 MONDO:0001920 True chronic atticoantral disease chronic purulent otitis media UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001922 MONDO:0001926 True pyoureter ureteral disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001923 MONDO:0019118 True vitreoretinal dystrophy inherited retinal dystrophy SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001924 MONDO:0019118 True dystrophies primarily involving the retinal pigment epithelium inherited retinal dystrophy SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001925 MONDO:0019118 True retinal dystrophy in systemic or cerebroretinal lipidoses inherited retinal dystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001926 MONDO:0002118 True ureteral disorder urinary system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001927 MONDO:0003628 True pulmonary valve insufficiency pulmonary valve disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001928 MONDO:0004789 True suppurative cholangitis cholangitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001929 MONDO:0004789 True ascending cholangitis cholangitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001930 MONDO:0004789 True acute cholangitis cholangitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001931 MONDO:0004789 True pericholangitis cholangitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001933 MONDO:0002356 True endocrine pancreas disorder pancreas disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001935 MONDO:0006816 True neurogenic arthropathy arthropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001936 MONDO:0001804 True brawny scleritis anterior scleritis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001938 MONDO:0002187 True vulvar dystrophy vulvar disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001894 MONDO:0003544 True spinal cord sarcoma spinal cord cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001896 MONDO:0001150 True obstructive hydrocephalus hydrocephalus SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001898 MONDO:0002661 True optic choroid disorder uveal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001901 MONDO:0045045 True selective IgG subclass deficiency selective IgG immunodeficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0001907 MONDO:0016367 True adult dermatomyositis dermatomyositis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001916 MONDO:0018077 True gastrointestinal tularemia tularemia SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001922 MONDO:0005227 True pyoureter abscess UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0001923 MONDO:0019118 True vitreoretinal dystrophy inherited retinal dystrophy SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001924 MONDO:0019118 True dystrophies primarily involving the retinal pigment epithelium inherited retinal dystrophy SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001926 MONDO:0002118 True ureteral disorder urinary system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001927 MONDO:0003628 True pulmonary valve insufficiency pulmonary valve disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001928 MONDO:0004789 True suppurative cholangitis cholangitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001929 MONDO:0004789 True ascending cholangitis cholangitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001930 MONDO:0004789 True acute cholangitis cholangitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001933 MONDO:0002356 True endocrine pancreas disorder pancreas disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001938 MONDO:0002187 True vulvar dystrophy vulvar disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0001939 MONDO:0003110 True skin epithelioid hemangioma skin hemangioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0001939 MONDO:0021169 True skin epithelioid hemangioma epithelioid hemangioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001940 MONDO:0005249 True pleuropneumonia pneumonia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001942 MONDO:0005618 True generalized anxiety disorder anxiety disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001943 MONDO:0005136 True Plasmodium malariae malaria malaria UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001944 MONDO:0005136 True mixed malaria malaria UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001945 MONDO:0006966 True postencephalitic Parkinson disease secondary Parkinson disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001947 MONDO:0004126 True suppurative thyroiditis thyroiditis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001949 MONDO:0004126 True acute thyroiditis thyroiditis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001950 MONDO:0000942 True corneal ectasia corneal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001951 MONDO:0004525 True Norwegian scabies scabies UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001952 MONDO:0002731 True parietal lobe cancer cerebral hemisphere cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001953 MONDO:0002118 True pyuria urinary system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001954 MONDO:0002800 True thrombophlebitis migrans thrombophlebitis UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001955 MONDO:0001517 True protozoal dysentery dysentery UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001956 MONDO:0001574 True capillary leak syndrome capillary disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001959 MONDO:0002467 True labyrinthine bilateral reactive loss inner ear disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001962 MONDO:0001933 True abnormality of glucagon secretion endocrine pancreas disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001964 MONDO:0005975 True chronic tubotympanic suppurative otitis media suppurative otitis media UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001965 MONDO:0004903 True sclerosing keratitis deep keratitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001966 MONDO:0001868 True chronic closed-angle glaucoma primary angle-closure glaucoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001971 MONDO:0017853 True farmer's lung disease hypersensitivity pneumonitis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001972 MONDO:0005683 True Brucella melitensis brucellosis brucellosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001973 MONDO:0005683 True Brucella abortus brucellosis brucellosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001941 MONDO:0021084 True blindness (disorder) vision disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0001942 MONDO:0005618 True generalized anxiety disorder anxiety disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001943 MONDO:0005136 True Plasmodium malariae malaria malaria UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001945 MONDO:0006966 True postencephalitic Parkinson disease secondary Parkinson disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001947 MONDO:0004126 True suppurative thyroiditis thyroiditis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001951 MONDO:0004525 True Norwegian scabies scabies UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001956 MONDO:0002254 True capillary leak syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0001974 MONDO:0006500 True hemangioma of orbit hemangioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001975 MONDO:0003155 True cavernous hemangioma of orbit cavernous hemangioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001976 MONDO:0001595 True chorea gravidarum choreatic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001977 MONDO:0005062 True ureteral lymphoma lymphoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001977 MONDO:0008627 True ureteral lymphoma ureter cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001978 MONDO:0006481 True regional ureteric cancer ureter carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001979 MONDO:0004566 True dumping syndrome postgastrectomy syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001982 MONDO:0019255 True Niemann-Pick disease sphingolipidosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001983 MONDO:0001515 True peripheral degeneration of cornea corneal degeneration UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001984 MONDO:0002026 True candidal paronychia candidiasis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001985 MONDO:0006948 True partial arterial retinal occlusion retinal artery occlusion UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001986 MONDO:0001303 True Argyll Robertson pupil abnormal pupillary function UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001988 MONDO:0001670 True external pathological resorption tooth resorption UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001989 MONDO:0006771 True atrophic glossitis glossitis UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001975 MONDO:0003155 True cavernous hemangioma of orbit cavernous hemangioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001977 MONDO:0005062 True ureteral lymphoma lymphoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001977 MONDO:0008627 True ureteral lymphoma ureter cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001978 MONDO:0006481 True regional ureteric cancer ureter carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001979 MONDO:0002254 True dumping syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001982 MONDO:0019255 True Niemann-Pick disease sphingolipidosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001985 MONDO:0006948 True partial arterial retinal occlusion retinal artery occlusion UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0001990 MONDO:0003354 True malignant cardiac peripheral nerve sheath neoplasm heart sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001990 MONDO:0017827 True malignant cardiac peripheral nerve sheath neoplasm malignant peripheral nerve sheath tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001991 MONDO:0001340 True malignant cardiac germ cell tumor heart cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001990 MONDO:0017827 True malignant cardiac peripheral nerve sheath neoplasm malignant peripheral nerve sheath tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001991 MONDO:0001340 True malignant cardiac germ cell tumor heart cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0001991 MONDO:0003113 True malignant cardiac germ cell tumor extragonadal germ cell cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0001991 MONDO:0020589 True malignant cardiac germ cell tumor cardiac germ cell tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001992 MONDO:0003562 True rete testis adenocarcinoma rete testis neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001992 MONDO:0004970 True rete testis adenocarcinoma adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001992 MONDO:0003562 True rete testis adenocarcinoma rete testis neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001992 MONDO:0004970 True rete testis adenocarcinoma adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0001993 MONDO:0002790 True seminal vesicle adenocarcinoma seminal vesicle tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001993 MONDO:0004970 True seminal vesicle adenocarcinoma adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001994 MONDO:0000380 True sphenoidal sinus cancer paranasal sinus carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001993 MONDO:0004970 True seminal vesicle adenocarcinoma adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0001994 MONDO:0004047 True sphenoidal sinus cancer sphenoidal sinus neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001995 MONDO:0001994 True sphenoid sinus squamous cell carcinoma sphenoidal sinus cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001995 MONDO:0001994 True sphenoid sinus squamous cell carcinoma sphenoidal sinus cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0001995 MONDO:0044705 True sphenoid sinus squamous cell carcinoma paranasal sinus squamous cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001996 MONDO:0004744 True steroid-induced glaucoma - borderline borderline glaucoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001997 MONDO:0001670 True root resorption tooth resorption UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001998 MONDO:0002003 True Foster-Kennedy syndrome papilledema UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001999 MONDO:0001493 True primary pulmonary hypertension chronic pulmonary heart disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0002000 MONDO:0006670 True anaerobic meningitis bacterial meningitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0002002 MONDO:0005420 True postsurgical hypothyroidism hypothyroidism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0002003 MONDO:0002135 True papilledema optic nerve disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0002004 MONDO:0005240 True atheroembolism of kidney kidney disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0002004 MONDO:0005568 True atheroembolism of kidney cholesterol embolism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0002006 MONDO:0002008 True serous labyrinthitis labyrinthitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0002008 MONDO:0002467 True labyrinthitis inner ear disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0002009 MONDO:0002050 True major depressive disorder depressive disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0002010 MONDO:0002254 True FG syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0002010 MONDO:0003847 True FG syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0002012 MONDO:0000688 True methylmalonic acidemia inborn organic aciduria UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0002013 MONDO:0000629 True lymphangioma cardiovascular organ benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002008 MONDO:0002467 True labyrinthitis inner ear disorder SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002008 MONDO:0021166 True labyrinthitis inflammatory disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0002009 MONDO:0002050 True major depressive disorder depressive disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0002013 MONDO:0036870 True lymphangioma lymphatic vessel neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002014 MONDO:0006025 True autosomal recessive Ehlers-Danlos syndrome, vascular type autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0002016 MONDO:0000412 True benign familial neonatal epilepsy neonatal period electroclinical syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0002017 MONDO:0005559 True olivopontocerebellar atrophy neurodegenerative disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0002021 MONDO:0002635 True gingival disorder periodontal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0002026 MONDO:0002312 True candidiasis opportunistic mycosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0002027 MONDO:0002028 True avoidant personality disorder personality disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0002028 MONDO:0002025 True personality disorder psychiatric disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0002029 MONDO:0002030 True chronic gonorrhea of cervix chronic cervicitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0002030 MONDO:0002345 True chronic cervicitis cervicitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0002032 MONDO:0021063 True colon carcinoma malignant colon neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002027 MONDO:0002028 True avoidant personality disorder personality disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002028 MONDO:0002025 True personality disorder psychiatric disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002030 MONDO:0002345 True chronic cervicitis cervicitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002032 MONDO:0021063 True colon carcinoma malignant colon neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0002032 MONDO:0024331 True colon carcinoma colorectal carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0002033 MONDO:0005694 True cecum cancer cecal neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0002033 MONDO:0021063 True cecum cancer malignant colon neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002034 MONDO:0002033 True cecum lymphoma cecum cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002034 MONDO:0002033 True cecum lymphoma cecum cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0002034 MONDO:0002035 True cecum lymphoma colon lymphoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002035 MONDO:0021063 True colon lymphoma malignant colon neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002035 MONDO:0021063 True colon lymphoma malignant colon neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0002035 MONDO:0024656 True colon lymphoma colorectal lymphoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002036 MONDO:0003150 True penile disorder male reproductive system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0002037 MONDO:0000270 True pleural disorder lower respiratory tract disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0002038 MONDO:0004993 True head and neck carcinoma carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0002038 MONDO:0005627 True head and neck carcinoma head and neck cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0002039 MONDO:0002025 True cognitive disorder psychiatric disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0002040 MONDO:0000254 True dermatomycosis cutaneous mycosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0002041 MONDO:0005550 True fungal infectious disease infectious disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0002042 MONDO:0002043 True mechanical ectropion ectropion UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0002043 MONDO:0003382 True ectropion eyelid disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0002044 MONDO:0002043 True spastic ectropion ectropion UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0002045 MONDO:0001150 True communicating hydrocephalus hydrocephalus SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0002046 MONDO:0002491 True alcohol abuse substance abuse UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0002047 MONDO:0005100 True pulmonary systemic sclerosis systemic sclerosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0002047 MONDO:0005275 True pulmonary systemic sclerosis lung disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0002048 MONDO:0002049 True thrombocytopenia due to immune destruction thrombocytopenia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0002050 MONDO:0005371 True depressive disorder mood disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0002052 MONDO:0004928 True lymphadenitis lymph node disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0002055 MONDO:0000620 True benign eccrine breast spiradenoma breast benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002036 MONDO:0003150 True penile disorder male reproductive system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002038 MONDO:0004993 True head and neck carcinoma carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002038 MONDO:0005627 True head and neck carcinoma head and neck cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002039 MONDO:0002025 True cognitive disorder psychiatric disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002041 MONDO:0005550 True fungal infectious disease infectious disease SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002045 MONDO:0001150 True communicating hydrocephalus hydrocephalus SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002048 MONDO:0002049 True thrombocytopenia due to immune destruction thrombocytopenia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002050 MONDO:0005371 True depressive disorder mood disorder SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002052 MONDO:0004928 True lymphadenitis lymph node disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002055 MONDO:0000620 True benign eccrine breast spiradenoma breast benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0002055 MONDO:0003448 True benign eccrine breast spiradenoma benign spiradenoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002056 MONDO:0000620 True breast fibroadenoma breast benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0002056 MONDO:0021046 True breast fibroadenoma breast fibroepithelial neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002057 MONDO:0000620 True breast leiomyoma breast benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002057 MONDO:0000620 True breast leiomyoma breast benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0002057 MONDO:0001572 True breast leiomyoma leiomyoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002058 MONDO:0000620 True breast adenoma breast benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0002058 MONDO:0004972 True breast adenoma adenoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002058 MONDO:0000620 True breast adenoma breast benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002058 MONDO:0004972 True breast adenoma adenoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0002058 MONDO:0036976 True breast adenoma benign epithelial neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002060 MONDO:0002363 True intraductal papilloma papilloma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0002061 MONDO:0002488 True intraductal papillary breast neoplasm intraductal breast neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0002062 MONDO:0000620 True breast myofibroblastoma breast benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002060 MONDO:0002363 True intraductal papilloma papilloma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002061 MONDO:0002488 True intraductal papillary breast neoplasm intraductal breast neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002062 MONDO:0000620 True breast myofibroblastoma breast benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0002062 MONDO:0040675 True breast myofibroblastoma myofibroblastoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002064 MONDO:0001574 True breast angiomatosis capillary disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0002064 MONDO:0002657 True breast angiomatosis breast disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0002065 MONDO:0000620 True benign breast adenomyoepithelioma breast benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002064 MONDO:0002657 True breast angiomatosis breast disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002065 MONDO:0000620 True benign breast adenomyoepithelioma breast benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0002065 MONDO:0002066 True benign breast adenomyoepithelioma breast adenomyoepithelioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002066 MONDO:0002483 True breast adenomyoepithelioma breast myoepithelial tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0002067 MONDO:0004379 True female breast upper-inner quadrant cancer female breast carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0002068 MONDO:0004379 True female breast lower-inner quadrant cancer female breast carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0002069 MONDO:0004379 True female breast axillary tail cancer female breast carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0002070 MONDO:0002078 True ventricular septal defect heart septal defect UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0002071 MONDO:0001657 True supratentorial cancer brain cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002066 MONDO:0002483 True breast adenomyoepithelioma breast myoepithelial tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002071 MONDO:0001657 True supratentorial cancer brain cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0002073 MONDO:0003000 True malignant pineal area germ cell neoplasm central nervous system germ cell tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0002073 MONDO:0003113 True malignant pineal area germ cell neoplasm extragonadal germ cell cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002073 MONDO:0003249 True malignant pineal area germ cell neoplasm pineal gland cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0002074 MONDO:0006816 True Behcet syndrome arthropathy arthropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0002075 MONDO:0002076 True spontaneous tension pneumothorax pneumothorax UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0002076 MONDO:0002037 True pneumothorax pleural disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0002077 MONDO:0005918 True low implantation of placenta placenta praevia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0002078 MONDO:0005453 True heart septal defect congenital heart disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002073 MONDO:0003249 True malignant pineal area germ cell neoplasm pineal gland cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002074 MONDO:0006816 True Behcet syndrome arthropathy arthropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002076 MONDO:0002037 True pneumothorax pleural disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002078 MONDO:0005453 True heart septal defect congenital heart disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0002082 MONDO:0005070 True endocrine gland neoplasm neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0002082 MONDO:0005151 True endocrine gland neoplasm endocrine system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002085 MONDO:0005395 True benign shuddering attacks movement disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002083 MONDO:0021058 True Richter syndrome neoplastic syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0002086 MONDO:0002093 True clear cell acanthoma acanthoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002087 MONDO:0004992 True peritoneum cancer cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002087 MONDO:0004992 True peritoneum cancer cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0002087 MONDO:0006901 True peritoneum cancer peritoneal neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002088 MONDO:0006951 True partial retinal vein occlusion retinal vein occlusion UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0002089 MONDO:0002311 True retinal vascular occlusion retinal vascular disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0002090 MONDO:0002381 True eccrine sweat gland neoplasm sweat gland neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0002092 MONDO:0001572 True small intestine leiomyoma leiomyoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002088 MONDO:0006951 True partial retinal vein occlusion retinal vein occlusion UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002089 MONDO:0002311 True retinal vascular occlusion retinal vascular disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002090 MONDO:0002381 True eccrine sweat gland neoplasm sweat gland neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002092 MONDO:0001572 True small intestine leiomyoma leiomyoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0002092 MONDO:0021501 True small intestine leiomyoma benign neoplasm of small intestine UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0002093 MONDO:0024666 True acanthoma benign epithelial skin neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002095 MONDO:0002100 True vascular cancer cardiovascular cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002095 MONDO:0002100 True vascular cancer cardiovascular cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0002095 MONDO:0021080 True vascular cancer blood vessel neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002096 MONDO:0003454 True malignant conjunctival melanoma conjunctival cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002096 MONDO:0003454 True malignant conjunctival melanoma conjunctival cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0002096 MONDO:0006325 True malignant conjunctival melanoma ocular melanoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002098 MONDO:0003569 True facial nerve disorder cranial nerve neuropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0002098 MONDO:0003620 True facial nerve disorder peripheral nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0002099 MONDO:0018312 True Histoplasma capsulatum infectious disease histoplasmosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0002100 MONDO:0004992 True cardiovascular cancer cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002098 MONDO:0003569 True facial nerve disorder cranial nerve neuropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002100 MONDO:0004992 True cardiovascular cancer cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0002100 MONDO:0024757 True cardiovascular cancer cardiovascular neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0002101 MONDO:0002098 True facial nerve neoplasm facial nerve disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0002101 MONDO:0002633 True facial nerve neoplasm cranial nerve neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002102 MONDO:0004748 True cheilitis lip disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0002103 MONDO:0002025 True factitious disorder psychiatric disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0002104 MONDO:0003117 True conversion disorder somatoform disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0002105 MONDO:0001273 True toxic megacolon megacolon UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0002106 MONDO:0002467 True labyrinthine unilateral reactive loss inner ear disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0002107 MONDO:0002467 True unilateral hyperactive labyrinth inner ear disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002102 MONDO:0004748 True cheilitis lip disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002103 MONDO:0002025 True factitious disorder psychiatric disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0002108 MONDO:0015074 True thyroid cancer thyroid tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002108 MONDO:0021069 True thyroid cancer malignant endocrine neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0002109 MONDO:0017611 True pituitary cancer pituitary tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002109 MONDO:0021069 True pituitary cancer malignant endocrine neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0002110 MONDO:0000383 True adrenal rest tumor benign reproductive system neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002112 MONDO:0000650 True benign peritoneal mesothelioma peritoneal benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002112 MONDO:0000650 True benign peritoneal mesothelioma peritoneal benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0002112 MONDO:0006362 True benign peritoneal mesothelioma peritoneal mesothelioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002113 MONDO:0002087 True peritoneal carcinoma peritoneum cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0002113 MONDO:0004993 True peritoneal carcinoma carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0002114 MONDO:0004699 True pancreas lymphoma gastrointestinal lymphoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002114 MONDO:0009831 True pancreas lymphoma malignant pancreatic neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0002116 MONDO:0009831 True malignant exocrine pancreas neoplasm malignant pancreatic neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002114 MONDO:0009831 True pancreas lymphoma malignant pancreatic neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002116 MONDO:0009831 True malignant exocrine pancreas neoplasm malignant pancreatic neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0002116 MONDO:0021076 True malignant exocrine pancreas neoplasm pancreatic exocrine neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002117 MONDO:0009831 True pancreas sarcoma malignant pancreatic neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002117 MONDO:0009831 True pancreas sarcoma malignant pancreatic neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0002117 MONDO:0018078 True pancreas sarcoma soft tissue sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002119 MONDO:0000631 True ossifying fibroma bone benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0002120 MONDO:0004993 True neuroendocrine carcinoma carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002120 MONDO:0004993 True neuroendocrine carcinoma carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0002120 MONDO:0019496 True neuroendocrine carcinoma neuroendocrine neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0002120 MONDO:0021069 True neuroendocrine carcinoma malignant endocrine neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002121 MONDO:0001397 True mononeuritis simplex mononeuropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0002122 MONDO:0005244 True neuritis peripheral neuropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0002123 MONDO:0005557 True calcinosis calcium metabolic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0002124 MONDO:0001854 True secondary lacrimal atrophy lacrimal apparatus disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0002125 MONDO:0005027 True status epilepticus epilepsy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0002127 MONDO:0001556 True urethral stricture urethral obstruction UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0002128 MONDO:0003607 True mononeuritis multiplex neuritis of upper limb UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0002129 MONDO:0000637 True bone cancer musculoskeletal system cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002122 MONDO:0005244 True neuritis peripheral neuropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0002129 MONDO:0019060 True bone cancer bone neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002130 MONDO:0002121 True upper limb mononeuronitis mononeuritis simplex UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0002130 MONDO:0003607 True upper limb mononeuronitis neuritis of upper limb UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0002132 MONDO:0002129 True skull cancer bone cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0002134 MONDO:0005039 True physiological sexual disorder reproductive system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0002135 MONDO:0003569 True optic nerve disorder cranial nerve neuropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0002136 MONDO:0002137 True eczematous dermatitis of eyelid noninfectious dermatoses of eyelid UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0002137 MONDO:0004785 True noninfectious dermatoses of eyelid blepharitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0002138 MONDO:0002137 True allergic contact dermatitis of eyelid noninfectious dermatoses of eyelid UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0002139 MONDO:0003409 True sigmoid disease colonic disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0002140 MONDO:0001402 True vagina sarcoma vaginal cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002135 MONDO:0003569 True optic nerve disorder cranial nerve neuropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002140 MONDO:0001402 True vagina sarcoma vaginal cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0002140 MONDO:0018078 True vagina sarcoma soft tissue sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0002141 MONDO:0002142 True cutaneous undifferentiated pleomorphic sarcoma undifferentiated pleomorphic sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0002141 MONDO:0006414 True cutaneous undifferentiated pleomorphic sarcoma skin sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002142 MONDO:0018078 True undifferentiated pleomorphic sarcoma soft tissue sarcoma UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002142 MONDO:0021054 True undifferentiated pleomorphic sarcoma bone sarcoma UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002142 MONDO:0018078 True undifferentiated pleomorphic sarcoma soft tissue sarcoma UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0002143 MONDO:0005744 True vaginal yolk sac tumor yolk sac tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002145 MONDO:0002259 True disorder of sexual differentiation gonadal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0002145 MONDO:0019755 True disorder of sexual differentiation developmental defect during embryogenesis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002146 MONDO:0002259 True hypogonadism gonadal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0002149 MONDO:0004992 True reproductive system cancer cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002146 MONDO:0002259 True hypogonadism gonadal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002149 MONDO:0004992 True reproductive system cancer cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0002149 MONDO:0006054 True reproductive system cancer reproductive system neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002150 MONDO:0003081 True hypothalamic disorder thalamic disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0002152 MONDO:0003432 True intermittent squint strabismus UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0002153 MONDO:0004907 True telogen effluvium alopecia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0002154 MONDO:0002428 True trichomoniasis protozoa infectious disease UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0002155 MONDO:0004789 True cholecystitis cholangitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0002156 MONDO:0002263 True fallopian tube disorder female reproductive system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0002158 MONDO:0001416 True fallopian tube cancer female reproductive organ cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002153 MONDO:0004907 True telogen effluvium alopecia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002154 MONDO:0002428 True trichomoniasis protozoa infectious disease UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002155 MONDO:0005281 True cholecystitis gallbladder disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002156 MONDO:0002263 True fallopian tube disorder female reproductive system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002158 MONDO:0001416 True fallopian tube cancer female reproductive organ cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0002158 MONDO:0021092 True fallopian tube cancer fallopian tube neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002159 MONDO:0002158 True fallopian tube leiomyosarcoma fallopian tube cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0002159 MONDO:0005058 True fallopian tube leiomyosarcoma leiomyosarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0002162 MONDO:0002158 True fallopian tube adenosarcoma fallopian tube cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002159 MONDO:0002158 True fallopian tube leiomyosarcoma fallopian tube cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002159 MONDO:0005058 True fallopian tube leiomyosarcoma leiomyosarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002162 MONDO:0002158 True fallopian tube adenosarcoma fallopian tube cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0002162 MONDO:0005636 True fallopian tube adenosarcoma adenosarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002163 MONDO:0005106 True thymus lipoma lipoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0002164 MONDO:0004674 True focal chorioretinitis chorioretinitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0002165 MONDO:0005335 True rectal neoplasm colorectal neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002166 MONDO:0006519 True rectum lymphoma rectal cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002166 MONDO:0006519 True rectum lymphoma rectal cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0002166 MONDO:0024656 True rectum lymphoma colorectal lymphoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002167 MONDO:0006519 True rectum malignant melanoma rectal cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002167 MONDO:0006519 True rectum malignant melanoma rectal cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0002167 MONDO:0045070 True rectum malignant melanoma digestive system melanoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002168 MONDO:0005089 True rectum sarcoma sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0002168 MONDO:0006519 True rectum sarcoma rectal cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002168 MONDO:0005089 True rectum sarcoma sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002168 MONDO:0006519 True rectum sarcoma rectal cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0002169 MONDO:0005008 True rectum adenocarcinoma colorectal adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0002169 MONDO:0044937 True rectum adenocarcinoma rectal carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002170 MONDO:0002172 True chronic eustachian salpingitis otosalpingitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0002171 MONDO:0005070 True giant cell tumor neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0002172 MONDO:0004866 True otosalpingitis eustachian tube disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0002172 MONDO:0005441 True otosalpingitis otitis media UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0002174 MONDO:0002175 True preretinal fibrosis degeneration of macula and posterior pole UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0002175 MONDO:0003004 True degeneration of macula and posterior pole macular degeneration UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0002177 MONDO:0002908 True hyperinsulinism glucose metabolism disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0002178 MONDO:0002715 True placenta cancer uterine cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002171 MONDO:0005070 True giant cell tumor neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002172 MONDO:0004866 True otosalpingitis eustachian tube disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002173 MONDO:0003620 True neuroma peripheral nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0002178 MONDO:0021218 True placenta cancer placenta neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002181 MONDO:0002185 True exostosis hyperostosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0002182 MONDO:0000592 True communication disorder specific developmental disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0002183 MONDO:0002081 True enthesopathy musculoskeletal system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0002183 MONDO:0003900 True enthesopathy connective tissue disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0002184 MONDO:0002251 True drug-induced hepatitis hepatitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0002185 MONDO:0000833 True hyperostosis bone remodeling disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0002186 MONDO:0005842 True acute maxillary sinusitis maxillary sinusitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0002187 MONDO:0002263 True vulvar disease female reproductive system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0002188 MONDO:0000643 True vulvar nodular hidradenoma vulvar benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002187 MONDO:0002263 True vulvar disease female reproductive system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002188 MONDO:0000643 True vulvar nodular hidradenoma vulvar benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0002188 MONDO:0002189 True vulvar nodular hidradenoma nodular hidradenoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0002188 MONDO:0021489 True vulvar nodular hidradenoma benign neoplasm of sweat gland UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0002188 MONDO:0024666 True vulvar nodular hidradenoma benign epithelial skin neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002189 MONDO:0002805 True nodular hidradenoma hidradenoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0002190 MONDO:0000643 True vulvar syringoma vulvar benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002189 MONDO:0002805 True nodular hidradenoma hidradenoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002190 MONDO:0000643 True vulvar syringoma vulvar benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0002190 MONDO:0002191 True vulvar syringoma syringoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0002190 MONDO:0021489 True vulvar syringoma benign neoplasm of sweat gland UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002191 MONDO:0002381 True syringoma sweat gland neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0002192 MONDO:0000643 True vulvar angiokeratoma vulvar benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0002193 MONDO:0000626 True Bartholin gland benign neoplasm vestibular gland benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002191 MONDO:0002381 True syringoma sweat gland neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0002194 MONDO:0000643 True vestibular papilloma vulvar benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0002194 MONDO:0001825 True vestibular papilloma squamous papilloma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002194 MONDO:0002195 True vestibular papilloma vulvar squamous neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002194 MONDO:0002195 True vestibular papilloma vulvar squamous neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0002195 MONDO:0002532 True vulvar squamous neoplasm squamous cell neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0002195 MONDO:0021049 True vulvar squamous neoplasm vulvar neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002196 MONDO:0006807 True perinatal intestinal perforation intestinal perforation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0002197 MONDO:0000626 True minor vestibular glands adenoma vestibular gland benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0002197 MONDO:0002198 True minor vestibular glands adenoma vulvar glandular neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002197 MONDO:0004972 True minor vestibular glands adenoma adenoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002197 MONDO:0004972 True minor vestibular glands adenoma adenoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0002197 MONDO:0036976 True minor vestibular glands adenoma benign epithelial neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0002198 MONDO:0021049 True vulvar glandular neoplasm vulvar neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0002198 MONDO:0024276 True vulvar glandular neoplasm glandular cell neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002199 MONDO:0000643 True benign mixed tumor of the vulva vulvar benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0002200 MONDO:0002090 True eccrine mixed tumor of skin eccrine sweat gland neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002199 MONDO:0000643 True benign mixed tumor of the vulva vulvar benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0002200 MONDO:0021043 True eccrine mixed tumor of skin mixed neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002201 MONDO:0000643 True vulvar trichoepithelioma vulvar benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002201 MONDO:0000643 True vulvar trichoepithelioma vulvar benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0002201 MONDO:0020593 True vulvar trichoepithelioma trichoblastoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0002202 MONDO:0002203 True outlet dysfunction constipation constipation disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002205 MONDO:0001528 True vulvar melanoma vulva cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002205 MONDO:0001528 True vulvar melanoma vulva cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0002205 MONDO:0006320 True vulvar melanoma non-cutaneous melanoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0002206 MONDO:0002381 True sweat gland cancer sweat gland neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002206 MONDO:0002898 True sweat gland cancer skin cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002206 MONDO:0002898 True sweat gland cancer skin cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0002207 MONDO:0008177 True vulval Paget disease extramammary Paget disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002207 MONDO:0024336 True vulval Paget disease vulvar adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0002209 MONDO:0002181 True heel spur exostosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0002211 MONDO:0003778 True B cell deficiency inborn error of immunity UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0002212 MONDO:0018077 True pneumonic tularemia tularemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0002214 MONDO:0001657 True brain germinoma brain cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002207 MONDO:0024336 True vulval Paget disease vulvar adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002211 MONDO:0021094 True B cell deficiency immunodeficiency disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0002214 MONDO:0001657 True brain germinoma brain cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0002214 MONDO:0002999 True brain germinoma central nervous system germinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002216 MONDO:0001657 True brain sarcoma brain cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002216 MONDO:0001657 True brain sarcoma brain cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0002216 MONDO:0002217 True brain sarcoma central nervous system sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002217 MONDO:0002714 True central nervous system sarcoma central nervous system cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002217 MONDO:0002714 True central nervous system sarcoma central nervous system cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0002217 MONDO:0018078 True central nervous system sarcoma soft tissue sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002218 MONDO:0002731 True temporal lobe cancer cerebral hemisphere cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0002220 MONDO:0006999 True tooth hard tissue disease tooth disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0002221 MONDO:0004041 True urethral urothelial papilloma urothelial papilloma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002221 MONDO:0004177 True urethral urothelial papilloma benign urethral neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0002222 MONDO:0001572 True urethra leiomyoma leiomyoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0002222 MONDO:0004177 True urethra leiomyoma benign urethral neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002221 MONDO:0004177 True urethral urothelial papilloma benign urethral neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002222 MONDO:0001572 True urethra leiomyoma leiomyoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002222 MONDO:0004177 True urethra leiomyoma benign urethral neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0002223 MONDO:0006292 True ovarian malignant mesothelioma malignant mesothelioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002223 MONDO:0008170 True ovarian malignant mesothelioma ovarian cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0002224 MONDO:0008170 True malignant ovarian cyst ovarian cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0002225 MONDO:0008170 True ovarian sarcoma ovarian cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002223 MONDO:0008170 True ovarian malignant mesothelioma ovarian cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002225 MONDO:0008170 True ovarian sarcoma ovarian cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0002225 MONDO:0018078 True ovarian sarcoma soft tissue sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002226 MONDO:0006002 True tuberculous oophoritis urogenital tuberculosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0002227 MONDO:0005062 True ovarian lymphoma lymphoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0002227 MONDO:0008170 True ovarian lymphoma ovarian cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002227 MONDO:0005062 True ovarian lymphoma lymphoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002227 MONDO:0008170 True ovarian lymphoma ovarian cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0002229 MONDO:0005626 True ovarian epithelial tumor epithelial neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0002229 MONDO:0021068 True ovarian epithelial tumor ovarian neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0002230 MONDO:0006058 True ovarian Wilms tumor Wilms tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002230 MONDO:0008170 True ovarian Wilms tumor ovarian cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0002232 MONDO:0002436 True nasal cavity disorder nasal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0002232 MONDO:0004867 True nasal cavity disorder upper respiratory tract disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0002233 MONDO:0005276 True enamel caries dental caries UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0002234 MONDO:0001433 True vaginitis vaginal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0002235 MONDO:0002531 True eyelid neoplasm skin neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0002235 MONDO:0003382 True eyelid neoplasm eyelid disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002230 MONDO:0008170 True ovarian Wilms tumor ovarian cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002234 MONDO:0001433 True vaginitis vaginal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002235 MONDO:0003382 True eyelid neoplasm eyelid disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0002235 MONDO:0021220 True eyelid neoplasm eye neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002236 MONDO:0000649 True ocular cancer sensory system cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0002236 MONDO:0021220 True ocular cancer eye neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002237 MONDO:0002922 True carbuncle pyoderma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0002238 MONDO:0021063 True ascending colon cancer malignant colon neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0002239 MONDO:0001933 True post-surgical hypoinsulinemia endocrine pancreas disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0002240 MONDO:0002246 True acute perichondritis of pinna perichondritis of auricle UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0002243 MONDO:0005570 True hemorrhagic disease hematologic disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0002246 MONDO:0004795 True perichondritis of auricle otitis externa UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0002251 MONDO:0005154 True hepatitis liver disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0002252 MONDO:0002251 True granulomatous hepatitis hepatitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0002253 MONDO:0000836 True spondylosis disease of bone structure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0002255 MONDO:0002256 True hypertrophic elongation of cervix cervix disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0002256 MONDO:0002654 True cervix disorder uterine disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0002257 MONDO:0006816 True ankylosis arthropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0002258 MONDO:0004867 True pharyngitis upper respiratory tract disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0002259 MONDO:0005151 True gonadal disorder endocrine system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0002261 MONDO:0000942 True keratopathy corneal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0002262 MONDO:0001574 True capillary lymphangioma capillary disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0002262 MONDO:0002013 True capillary lymphangioma lymphangioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0002262 MONDO:0024286 True capillary lymphangioma benign blood vessel neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0002263 MONDO:0005039 True female reproductive system disorder reproductive system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0002265 MONDO:0000592 True stereotypic movement disorder specific developmental disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0002266 MONDO:0017853 True malt worker's lung hypersensitivity pneumonitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0002267 MONDO:0005275 True obstructive lung disease lung disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0002270 MONDO:0004966 True viral gastritis gastritis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0002270 MONDO:0005108 True viral gastritis viral infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0002271 MONDO:0002032 True colon adenocarcinoma colon carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002242 MONDO:0001531 True coagulation protein disease blood coagulation disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0002243 MONDO:0005570 True hemorrhagic disease hematologic disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002245 MONDO:0005570 True blood platelet disease hematologic disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0002247 MONDO:0002242 True factor X deficiency coagulation protein disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0002250 MONDO:0002254 True basilar artery insufficiency syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002251 MONDO:0005154 True hepatitis liver disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002252 MONDO:0002251 True granulomatous hepatitis hepatitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002256 MONDO:0002654 True cervix disorder uterine disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002259 MONDO:0005039 True gonadal disorder reproductive system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002261 MONDO:0000942 True keratopathy corneal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002263 MONDO:0005039 True female reproductive system disorder reproductive system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002269 MONDO:0021166 True gastroenteritis inflammatory disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0002270 MONDO:0004966 True viral gastritis gastritis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002270 MONDO:0005108 True viral gastritis viral infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002270 MONDO:0043424 True viral gastritis digestive system infectious disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0002271 MONDO:0002032 True colon adenocarcinoma colon carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0002271 MONDO:0005008 True colon adenocarcinoma colorectal adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002272 MONDO:0002273 True polyclonal hypergammaglobulinemia plasma protein metabolism disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0002273 MONDO:0019052 True plasma protein metabolism disease inborn errors of metabolism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0002274 MONDO:0002273 True monoclonal paraproteinemia disease plasma protein metabolism disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0002275 MONDO:0005311 True generalized atherosclerosis atherosclerosis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0002277 MONDO:0000473 True arteriosclerosis disorder arterial disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002275 MONDO:0005311 True generalized atherosclerosis atherosclerosis SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002277 MONDO:0000473 True arteriosclerosis disorder arterial disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0002278 MONDO:0005401 True benign colon neoplasm colonic neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0002278 MONDO:0021444 True benign colon neoplasm benign neoplasm of large intestine UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0002279 MONDO:0000226 True iron metabolism disease mineral metabolism disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002280 MONDO:0005570 True anemia hematologic disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0002281 MONDO:0002280 True macrocytic anemia anemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0002287 MONDO:0006030 True glandular cystitis chronic cystitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0002289 MONDO:0002661 True iris disorder uveal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0002290 MONDO:0001528 True clitoris cancer vulva cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002280 MONDO:0005570 True anemia hematologic disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002281 MONDO:0002280 True macrocytic anemia anemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002287 MONDO:0006030 True glandular cystitis chronic cystitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002289 MONDO:0002661 True iris disorder uveal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002290 MONDO:0001528 True clitoris cancer vulva cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0002291 MONDO:0002300 True cutaneous granular cell tumor dermis tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0002291 MONDO:0006235 True cutaneous granular cell tumor granular cell tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0002293 MONDO:0005033 True cutaneous ganglioneuroma ganglioneuroma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0002295 MONDO:0002300 True skin glomus tumor dermis tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002295 MONDO:0018327 True skin glomus tumor glomus tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0002297 MONDO:0002531 True epidermal appendage tumor skin neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002295 MONDO:0018327 True skin glomus tumor glomus tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002297 MONDO:0002531 True epidermal appendage tumor skin neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0002298 MONDO:0002295 True cutaneous glomangioma skin glomus tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002298 MONDO:0002299 True cutaneous glomangioma glomangioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002298 MONDO:0002299 True cutaneous glomangioma glomangioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0002299 MONDO:0018327 True glomangioma glomus tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002300 MONDO:0002531 True dermis tumor skin neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0002301 MONDO:0001756 True frontal sinus squamous cell carcinoma frontal sinus cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002300 MONDO:0002531 True dermis tumor skin neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002301 MONDO:0001756 True frontal sinus squamous cell carcinoma frontal sinus cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0002301 MONDO:0044705 True frontal sinus squamous cell carcinoma paranasal sinus squamous cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002303 MONDO:0004634 True central retinal vein occlusion vein disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0002303 MONDO:0006951 True central retinal vein occlusion retinal vein occlusion UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0002304 MONDO:0002305 True protein S deficiency thrombophilia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0002305 MONDO:0001531 True thrombophilia blood coagulation disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0002306 MONDO:0002307 True angular blepharoconjunctivitis blepharoconjunctivitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0002307 MONDO:0004785 True blepharoconjunctivitis blepharitis UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0002308 MONDO:0002309 True giant papillary conjunctivitis papillary conjunctivitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0002309 MONDO:0003799 True papillary conjunctivitis conjunctivitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0002310 MONDO:0005328 True anterior dislocation of lens eye disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0002311 MONDO:0005283 True retinal vascular disorder retinal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0002312 MONDO:0002041 True opportunistic mycosis fungal infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0002313 MONDO:0002314 True vernal conjunctivitis chronic conjunctivitis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0002314 MONDO:0003799 True chronic conjunctivitis conjunctivitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0002316 MONDO:0005244 True motor peripheral neuropathy peripheral neuropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0002317 MONDO:0005560 True central nervous system origin vertigo brain disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0002318 MONDO:0001572 True trachea leiomyoma leiomyoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002303 MONDO:0006951 True central retinal vein occlusion retinal vein occlusion UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002304 MONDO:0002305 True protein S deficiency thrombophilia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002305 MONDO:0001531 True thrombophilia blood coagulation disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002308 MONDO:0002309 True giant papillary conjunctivitis papillary conjunctivitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002309 MONDO:0003799 True papillary conjunctivitis conjunctivitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002311 MONDO:0005283 True retinal vascular disorder retinal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002311 MONDO:0005552 True retinal vascular disorder ocular vascular disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0002313 MONDO:0002314 True vernal conjunctivitis chronic conjunctivitis SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002314 MONDO:0003799 True chronic conjunctivitis conjunctivitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002316 MONDO:0005244 True motor peripheral neuropathy peripheral neuropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002318 MONDO:0001572 True trachea leiomyoma leiomyoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0002318 MONDO:0021517 True trachea leiomyoma benign neoplasm of trachea UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0002319 MONDO:0000226 True phosphorus metabolism disease mineral metabolism disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002320 MONDO:0005071 True congenital nervous system disorder nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0002321 MONDO:0005244 True sensory peripheral neuropathy peripheral neuropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0002322 MONDO:0005385 True angiodysplasia vascular disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002320 MONDO:0005071 True congenital nervous system disorder nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002321 MONDO:0005244 True sensory peripheral neuropathy peripheral neuropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0002323 MONDO:0002407 True cherry hemangioma capillary hemangioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0002323 MONDO:0003110 True cherry hemangioma skin hemangioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002325 MONDO:0006999 True tooth erosion, non-bacterial tooth disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0002327 MONDO:0002328 True intracranial cavernous angioma intracranial hemangioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002327 MONDO:0002328 True intracranial cavernous angioma intracranial hemangioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0002327 MONDO:0003155 True intracranial cavernous angioma cavernous hemangioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002329 MONDO:0002259 True testicular disorder gonadal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0002329 MONDO:0003150 True testicular disorder male reproductive system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0002330 MONDO:0002326 True alcoholic psychosis alcohol-induced mental disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0002330 MONDO:0005485 True alcoholic psychosis psychotic disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0002331 MONDO:0005240 True nephrosis kidney disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002329 MONDO:0003150 True testicular disorder male reproductive system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0002332 MONDO:0005570 True splenic disorder hematologic disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002332 MONDO:0005833 True splenic disorder lymphatic system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0002333 MONDO:0002332 True splenic abscess splenic disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0002334 MONDO:0005070 True hematopoietic and lymphoid system neoplasm neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0002334 MONDO:0005570 True hematopoietic and lymphoid system neoplasm hematologic disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0002337 MONDO:0006500 True intra-abdominal hemangioma hemangioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0002338 MONDO:0005027 True extratemporal epilepsy epilepsy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0002340 MONDO:0017768 True tactile epilepsy reflex epilepsy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0002342 MONDO:0003816 True chondromalacia articular cartilage disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002333 MONDO:0002332 True splenic abscess splenic disorder SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002333 MONDO:0005227 True splenic abscess abscess UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0002334 MONDO:0005070 True hematopoietic and lymphoid system neoplasm neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002335 MONDO:0003334 True chronic inflammatory demyelinating polyneuritis demyelinating polyneuropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002337 MONDO:0006500 True intra-abdominal hemangioma hemangioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002338 MONDO:0005027 True extratemporal epilepsy epilepsy UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002340 MONDO:0017768 True tactile epilepsy reflex epilepsy UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002341 MONDO:0043494 True granulomatous angiitis arteritis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0002343 MONDO:0002337 True splenic hemangioma intra-abdominal hemangioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0002343 MONDO:0021500 True splenic hemangioma benign neoplasm of spleen UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002345 MONDO:0002256 True cervicitis cervix disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0002347 MONDO:0005303 True barbiturate dependence drug dependence UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0002350 MONDO:0005377 True familial nephrotic syndrome nephrotic syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0002351 MONDO:0002352 True glottis cancer larynx cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002345 MONDO:0002256 True cervicitis cervix disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002350 MONDO:0005377 True familial nephrotic syndrome nephrotic syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002351 MONDO:0002352 True glottis cancer larynx cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0002351 MONDO:0002353 True glottis cancer glottis neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002352 MONDO:0000376 True larynx cancer respiratory system cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0002352 MONDO:0021071 True larynx cancer laryngeal neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0002353 MONDO:0021071 True glottis neoplasm laryngeal neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002354 MONDO:0000382 True benign laryngeal neoplasm respiratory system benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0002354 MONDO:0021071 True benign laryngeal neoplasm laryngeal neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002355 MONDO:0002351 True glottis carcinoma glottis cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002355 MONDO:0002351 True glottis carcinoma glottis cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0002355 MONDO:0002358 True glottis carcinoma laryngeal carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002356 MONDO:0005151 True pancreas disorder endocrine system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0002357 MONDO:0002238 True hepatic flexure cancer ascending colon cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0002358 MONDO:0002352 True laryngeal carcinoma larynx cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0002358 MONDO:0004993 True laryngeal carcinoma carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002356 MONDO:0004335 True pancreas disorder digestive system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002358 MONDO:0002352 True laryngeal carcinoma larynx cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002358 MONDO:0004993 True laryngeal carcinoma carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0002359 MONDO:0000631 True periosteal chondroma bone benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002359 MONDO:0002360 True periosteal chondroma chondroma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002359 MONDO:0002360 True periosteal chondroma chondroma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0002360 MONDO:0024470 True chondroma benign chondrogenic neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002361 MONDO:0021063 True transverse colon cancer malignant colon neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0002362 MONDO:0002363 True serous surface papilloma papilloma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002362 MONDO:0002363 True serous surface papilloma papilloma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0002363 MONDO:0021096 True papilloma papillary epithelial neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0002363 MONDO:0036976 True papilloma benign epithelial neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0002365 MONDO:0005094 True kidney hemangiopericytoma hemangiopericytoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002366 MONDO:0001406 True autonomic nervous system neoplasm peripheral nervous system neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0002367 MONDO:0006295 True kidney cancer malignant urinary system neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002366 MONDO:0001406 True autonomic nervous system neoplasm peripheral nervous system neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002367 MONDO:0006295 True kidney cancer malignant urinary system neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0002367 MONDO:0021163 True kidney cancer kidney neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0002368 MONDO:0005074 True papillary serous cystadenocarcinoma papillary cystadenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0002368 MONDO:0024621 True papillary serous cystadenocarcinoma serous cystadenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002369 MONDO:0004972 True cystadenoma adenoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0002369 MONDO:0021077 True cystadenoma cystic neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0002369 MONDO:0024276 True cystadenoma glandular cell neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0002370 MONDO:0002229 True ovarian Brenner tumor ovarian epithelial tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0002370 MONDO:0024235 True ovarian Brenner tumor Brenner tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002371 MONDO:0002056 True breast pericanalicular fibroadenoma breast fibroadenoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0002372 MONDO:0003331 True ovarian monodermal and highly specialized teratoma ovarian monodermal teratoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0002373 MONDO:0005165 True benign mesothelioma benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002371 MONDO:0002056 True breast pericanalicular fibroadenoma breast fibroadenoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002372 MONDO:0003331 True ovarian monodermal and highly specialized teratoma ovarian monodermal teratoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0002375 MONDO:0004972 True sebaceous adenoma adenoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002375 MONDO:0006963 True sebaceous adenoma sebaceous gland neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002375 MONDO:0006963 True sebaceous adenoma sebaceous gland neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0002375 MONDO:0021634 True sebaceous adenoma epithelial skin neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002376 MONDO:0005966 True spleen angiosarcoma spleen cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0002376 MONDO:0016982 True spleen angiosarcoma angiosarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0002377 MONDO:0002056 True breast intracanalicular fibroadenoma breast fibroadenoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0002378 MONDO:0002379 True dermoid cyst cystic teratoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002376 MONDO:0005966 True spleen angiosarcoma spleen cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002376 MONDO:0016982 True spleen angiosarcoma angiosarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002377 MONDO:0002056 True breast intracanalicular fibroadenoma breast fibroadenoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002378 MONDO:0002379 True dermoid cyst cystic teratoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0002379 MONDO:0002601 True cystic teratoma teratoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0002381 MONDO:0002297 True sweat gland neoplasm epidermal appendage tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002381 MONDO:0006615 True sweat gland neoplasm sweat gland disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0002382 MONDO:0006854 True benign mesenchymoma mesenchymoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002383 MONDO:0016755 True Pacinian tumor neurofibroma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0002385 MONDO:0002513 True benign cystic nephroma kidney benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002383 MONDO:0016755 True Pacinian tumor neurofibroma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0002386 MONDO:0021163 True mixed epithelial stromal tumor of the kidney kidney neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0002387 MONDO:0002397 True liver angiosarcoma liver sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002387 MONDO:0002405 True liver angiosarcoma hepatic vascular disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0002387 MONDO:0016982 True liver angiosarcoma angiosarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0002395 MONDO:0002513 True renal adenoma kidney benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0002395 MONDO:0004972 True renal adenoma adenoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0002396 MONDO:0002513 True nephrogenic adenofibroma kidney benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002387 MONDO:0002405 True liver angiosarcoma hepatic vascular disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002387 MONDO:0016982 True liver angiosarcoma angiosarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002395 MONDO:0002513 True renal adenoma kidney benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002395 MONDO:0004972 True renal adenoma adenoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002396 MONDO:0002513 True nephrogenic adenofibroma kidney benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0002396 MONDO:0021045 True nephrogenic adenofibroma fibroepithelial neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002397 MONDO:0002691 True liver sarcoma liver cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002397 MONDO:0002691 True liver sarcoma liver cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0002397 MONDO:0018078 True liver sarcoma soft tissue sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002398 MONDO:0006071 True mucinous adenofibroma adenofibroma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002398 MONDO:0006071 True mucinous adenofibroma adenofibroma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0002398 MONDO:0024338 True mucinous adenofibroma mucinous neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0002399 MONDO:0002522 True tenosynovial giant cell tumor, localized type tenosynovial giant cell tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0002399 MONDO:0024715 True tenosynovial giant cell tumor, localized type benign synovial neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002400 MONDO:0003900 True synovitis connective tissue disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0002401 MONDO:0002402 True malignant tenosynovial giant cell tumor malignant giant cell tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002401 MONDO:0002403 True malignant tenosynovial giant cell tumor synovium cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002401 MONDO:0002403 True malignant tenosynovial giant cell tumor synovium cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0002401 MONDO:0002522 True malignant tenosynovial giant cell tumor tenosynovial giant cell tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002402 MONDO:0004992 True malignant giant cell tumor cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0002403 MONDO:0000637 True synovium cancer musculoskeletal system cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002402 MONDO:0004992 True malignant giant cell tumor cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0002403 MONDO:0002528 True synovium cancer synovium neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002404 MONDO:0000385 True liver hemangioma benign digestive system neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0002404 MONDO:0000627 True liver hemangioma benign endocrine neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002404 MONDO:0000385 True liver hemangioma benign digestive system neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0002404 MONDO:0002337 True liver hemangioma intra-abdominal hemangioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002404 MONDO:0024477 True liver hemangioma liver and intrahepatic bile duct neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0002405 MONDO:0005154 True hepatic vascular disorder liver disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0002405 MONDO:0005385 True hepatic vascular disorder vascular disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0002406 MONDO:0005093 True dermatitis skin disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0002407 MONDO:0006500 True capillary hemangioma hemangioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0002410 MONDO:0006938 True pyeloureteritis cystica pyelitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0002411 MONDO:0002028 True narcissistic personality disorder personality disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0002412 MONDO:0019214 True disorder of glycogen metabolism inborn carbohydrate metabolic disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0002413 MONDO:0002412 True glycogen storage disease I disorder of glycogen metabolism SUPPORTED SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002404 MONDO:0024477 True liver hemangioma liver and intrahepatic bile duct neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002405 MONDO:0005154 True hepatic vascular disorder liver disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002405 MONDO:0005385 True hepatic vascular disorder vascular disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002406 MONDO:0005093 True dermatitis skin disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002407 MONDO:0006500 True capillary hemangioma hemangioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002411 MONDO:0002028 True narcissistic personality disorder personality disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002413 MONDO:0002412 True glycogen storage disease I disorder of glycogen metabolism SUPPORTED UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0002414 MONDO:0002337 True gastric hemangioma intra-abdominal hemangioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0002414 MONDO:0021449 True gastric hemangioma benign neoplasm of stomach UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002415 MONDO:0002129 True bone carcinoma bone cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0002415 MONDO:0004993 True bone carcinoma carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0002416 MONDO:0001763 True ethmoid sinus squamous cell carcinoma ethmoid sinus cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002416 MONDO:0001763 True ethmoid sinus squamous cell carcinoma ethmoid sinus cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0002416 MONDO:0044705 True ethmoid sinus squamous cell carcinoma paranasal sinus squamous cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002418 MONDO:0001763 True ethmoid sinus adenocarcinoma ethmoid sinus cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0002418 MONDO:0004970 True ethmoid sinus adenocarcinoma adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0002419 MONDO:0002420 True transient tic disorder tic disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0002420 MONDO:0000592 True tic disorder specific developmental disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0002423 MONDO:0006971 True rectosigmoid junction neoplasm sigmoid neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0002424 MONDO:0002425 True rectosigmoid carcinoma rectosigmoid junction cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0002425 MONDO:0001464 True rectosigmoid junction cancer sigmoid colon cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002418 MONDO:0001763 True ethmoid sinus adenocarcinoma ethmoid sinus cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002418 MONDO:0004970 True ethmoid sinus adenocarcinoma adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002419 MONDO:0005395 True transient tic disorder movement disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002424 MONDO:0002425 True rectosigmoid carcinoma rectosigmoid junction cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0002425 MONDO:0002423 True rectosigmoid junction cancer rectosigmoid junction neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002426 MONDO:0008903 True lung sarcoma lung cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002426 MONDO:0008903 True lung sarcoma lung cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0002426 MONDO:0018078 True lung sarcoma soft tissue sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002427 MONDO:0005560 True cerebellar disorder brain disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0002428 MONDO:0005135 True protozoa infectious disease parasitic infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0002429 MONDO:0005249 True idiopathic interstitial pneumonia pneumonia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0002432 MONDO:0002433 True malignant neoplasm of acoustic nerve malignant cranial nerve neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0002432 MONDO:0004532 True malignant neoplasm of acoustic nerve auditory system cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002428 MONDO:0005135 True protozoa infectious disease parasitic infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002429 MONDO:0005249 True idiopathic interstitial pneumonia pneumonia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002432 MONDO:0002433 True malignant neoplasm of acoustic nerve malignant cranial nerve neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0002432 MONDO:0021221 True malignant neoplasm of acoustic nerve vestibulocochlear nerve neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0002433 MONDO:0002633 True malignant cranial nerve neoplasm cranial nerve neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002434 MONDO:0002433 True oculomotor nerve cancer malignant cranial nerve neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0002434 MONDO:0002435 True oculomotor nerve cancer oculomotor nerve neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002434 MONDO:0002433 True oculomotor nerve cancer malignant cranial nerve neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002434 MONDO:0002435 True oculomotor nerve cancer oculomotor nerve neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0002435 MONDO:0002633 True oculomotor nerve neoplasm cranial nerve neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002435 MONDO:0003546 True oculomotor nerve neoplasm third cranial nerve disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0002438 MONDO:0005571 True acquired polycythemia polycythemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0002441 MONDO:0019171 True Jervell and Lange-Nielsen syndrome familial long QT syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING -MONDO:0002443 MONDO:0003406 True bruxism sleep-wake disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0002447 MONDO:0011962 True endometrial carcinoma endometrial cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0002448 MONDO:0002352 True laryngeal sarcoma larynx cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0002449 MONDO:0001515 True nodular degeneration of cornea corneal degeneration UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002435 MONDO:0003546 True oculomotor nerve neoplasm third cranial nerve disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002442 MONDO:0002254 True long QT syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002444 MONDO:0002050 True melancholia depressive disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0002447 MONDO:0011962 True endometrial carcinoma endometrial cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002448 MONDO:0002352 True laryngeal sarcoma larynx cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0002450 MONDO:0004972 True prostatic adenoma adenoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0002450 MONDO:0021510 True prostatic adenoma benign neoplasm of prostate UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0002450 MONDO:0036976 True prostatic adenoma benign epithelial neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0002451 MONDO:0021102 True benign prostate phyllodes tumor prostate phyllodes tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0002451 MONDO:0021510 True benign prostate phyllodes tumor benign neoplasm of prostate UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0002451 MONDO:0037002 True benign prostate phyllodes tumor benign phyllodes tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002452 MONDO:0001572 True prostate leiomyoma leiomyoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002452 MONDO:0001572 True prostate leiomyoma leiomyoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0002452 MONDO:0021510 True prostate leiomyoma benign neoplasm of prostate UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002453 MONDO:0002409 True retrocochlear disease auditory system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0002455 MONDO:0005131 True exocervical carcinoma cervical carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0002457 MONDO:0000426 True Treacher-Collins syndrome autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0002457 MONDO:0002254 True Treacher-Collins syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0002457 MONDO:0015161 True Treacher-Collins syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002457 MONDO:0015483 True Treacher-Collins syndrome mandibulofacial dysostosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002457 MONDO:0018751 True Treacher-Collins syndrome hereditary otorhinolaryngologic disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002459 MONDO:0000605 True type IV hypersensitivity disease hypersensitivity reaction disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0002460 MONDO:0001854 True lacrimal system cancer lacrimal apparatus disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0002460 MONDO:0002236 True lacrimal system cancer ocular cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0002461 MONDO:0002462 True membranoproliferative glomerulonephritis glomerulonephritis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0002462 MONDO:0001166 True glomerulonephritis nephritis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0002463 MONDO:0002464 True lacrimal gland carcinoma lacrimal gland cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002455 MONDO:0005131 True exocervical carcinoma cervical carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002457 MONDO:0002254 True Treacher-Collins syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002459 MONDO:0000605 True type IV hypersensitivity disease hypersensitivity reaction disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002460 MONDO:0001854 True lacrimal system cancer lacrimal apparatus disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002461 MONDO:0002462 True membranoproliferative glomerulonephritis glomerulonephritis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002462 MONDO:0001166 True glomerulonephritis nephritis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002463 MONDO:0002464 True lacrimal gland carcinoma lacrimal gland cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0002463 MONDO:0002466 True lacrimal gland carcinoma eye carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002464 MONDO:0002460 True lacrimal gland cancer lacrimal system cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002464 MONDO:0002460 True lacrimal gland cancer lacrimal system cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0002464 MONDO:0021222 True lacrimal gland cancer lacrimal gland neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002465 MONDO:0005275 True bronchiolitis lung disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0002466 MONDO:0002236 True eye carcinoma ocular cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0002467 MONDO:0002409 True inner ear disorder auditory system disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0002468 MONDO:0002211 True hyperimmunoglobulin syndrome B cell deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002465 MONDO:0005275 True bronchiolitis lung disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002466 MONDO:0002236 True eye carcinoma ocular cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002467 MONDO:0002409 True inner ear disorder auditory system disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002467 MONDO:0021205 True inner ear disorder disorder of ear UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0002469 MONDO:0002463 True lacrimal gland carcinoma ex pleomorphic adenoma lacrimal gland carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0002469 MONDO:0002472 True lacrimal gland carcinoma ex pleomorphic adenoma carcinoma ex pleomorphic adenoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002470 MONDO:0018053 True photosensitive trichothiodystrophy trichothiodystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0002471 MONDO:0006816 True bursitis arthropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0002472 MONDO:0004993 True carcinoma ex pleomorphic adenoma carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0002472 MONDO:0005853 True carcinoma ex pleomorphic adenoma malignant mixed neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002473 MONDO:0005240 True cystic kidney disease kidney disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0002474 MONDO:0019214 True primary hyperoxaluria inborn carbohydrate metabolic disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0002475 MONDO:0002463 True lacrimal gland adenocarcinoma lacrimal gland carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0002475 MONDO:0004970 True lacrimal gland adenocarcinoma adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0002476 MONDO:0005240 True anuria kidney disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0002477 MONDO:0019496 True prostate neuroendocrine neoplasm neuroendocrine neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002473 MONDO:0005240 True cystic kidney disease kidney disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002475 MONDO:0002463 True lacrimal gland adenocarcinoma lacrimal gland carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002475 MONDO:0004970 True lacrimal gland adenocarcinoma adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002477 MONDO:0019496 True prostate neuroendocrine neoplasm neuroendocrine neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0002477 MONDO:0021259 True prostate neuroendocrine neoplasm prostate neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0002478 MONDO:0021043 True mixed germ cell-sex cord-stromal tumor mixed neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0002480 MONDO:0005626 True endometrioid tumor epithelial neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002481 MONDO:0008170 True ovarian neuroendocrine neoplasm ovarian cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0002481 MONDO:0019496 True ovarian neuroendocrine neoplasm neuroendocrine neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0002481 MONDO:0021069 True ovarian neuroendocrine neoplasm malignant endocrine neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002481 MONDO:0019496 True ovarian neuroendocrine neoplasm neuroendocrine neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0002482 MONDO:0021100 True nipple neoplasm breast neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0002483 MONDO:0002380 True breast myoepithelial tumor myoepithelial tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0002483 MONDO:0021100 True breast myoepithelial tumor breast neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0002485 MONDO:0019496 True breast neuroendocrine neoplasm neuroendocrine neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0002485 MONDO:0021100 True breast neuroendocrine neoplasm breast neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002486 MONDO:0004658 True lobular neoplasia breast carcinoma in situ UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0002487 MONDO:0006235 True breast granular cell tumor granular cell tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0002487 MONDO:0021100 True breast granular cell tumor breast neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0002488 MONDO:0021100 True intraductal breast neoplasm breast neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002489 MONDO:0007254 True malignant breast phyllodes tumor breast cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002489 MONDO:0007254 True malignant breast phyllodes tumor breast cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0002489 MONDO:0021047 True malignant breast phyllodes tumor breast phyllodes tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0002489 MONDO:0037003 True malignant breast phyllodes tumor malignant phyllodes tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002490 MONDO:0007254 True breast sarcoma breast cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002490 MONDO:0007254 True breast sarcoma breast cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0002490 MONDO:0018078 True breast sarcoma soft tissue sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002491 MONDO:0002494 True substance abuse substance-related disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0002492 MONDO:0001106 True acute kidney failure kidney failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002492 MONDO:0001106 True acute kidney failure kidney failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0002493 MONDO:0004965 True prostatic acinar adenocarcinoma acinar cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002493 MONDO:0005082 True prostatic acinar adenocarcinoma prostate adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0002494 MONDO:0002025 True substance-related disorder psychiatric disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0002495 MONDO:0002271 True colon signet ring cell adenocarcinoma colon adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002493 MONDO:0005082 True prostatic acinar adenocarcinoma prostate adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002494 MONDO:0002025 True substance-related disorder psychiatric disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002495 MONDO:0002271 True colon signet ring cell adenocarcinoma colon adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0002495 MONDO:0044336 True colon signet ring cell adenocarcinoma colorectal signet ring cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002496 MONDO:0002271 True submucosal invasive colon adenocarcinoma colon adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002496 MONDO:0002271 True submucosal invasive colon adenocarcinoma colon adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0002496 MONDO:0040677 True submucosal invasive colon adenocarcinoma invasive carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002501 MONDO:0005499 True brain glioblastoma brain glioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0002501 MONDO:0018177 True brain glioblastoma glioblastoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002503 MONDO:0021636 True adult astrocytic tumor astrocytic tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002503 MONDO:0021636 True adult astrocytic tumor astrocytic tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0002505 MONDO:0021079 True childhood astrocytic tumor childhood neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002505 MONDO:0021636 True childhood astrocytic tumor astrocytic tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0002507 MONDO:0002021 True gingival overgrowth gingival disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0002508 MONDO:0002021 True gingivitis gingival disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0002511 MONDO:0001854 True stenosis of lacrimal sac lacrimal apparatus disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0002512 MONDO:0004970 True papillary adenocarcinoma adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002505 MONDO:0021636 True childhood astrocytic tumor astrocytic tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002508 MONDO:0002021 True gingivitis gingival disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002509 MONDO:0006882 True non-specific granulomatous orchitis orchitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002512 MONDO:0004970 True papillary adenocarcinoma adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0002512 MONDO:0006509 True papillary adenocarcinoma papillary carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002513 MONDO:0004180 True kidney benign neoplasm benign urinary system neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002513 MONDO:0004180 True kidney benign neoplasm benign urinary system neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0002513 MONDO:0021163 True kidney benign neoplasm kidney neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0002514 MONDO:0002515 True hepatobiliary neoplasm hepatobiliary disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0002514 MONDO:0021223 True hepatobiliary neoplasm digestive system neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002515 MONDO:0004335 True hepatobiliary disorder digestive system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0002516 MONDO:0004335 True digestive system cancer digestive system disorder UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0002516 MONDO:0004992 True digestive system cancer cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002515 MONDO:0004335 True hepatobiliary disorder digestive system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002516 MONDO:0004335 True digestive system cancer digestive system disorder UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002516 MONDO:0004992 True digestive system cancer cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0002516 MONDO:0021223 True digestive system cancer digestive system neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002517 MONDO:0004855 True tenosynovitis of foot and ankle tenosynovitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0002518 MONDO:0021096 True gallbladder papillary neoplasm papillary epithelial neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0002518 MONDO:0021253 True gallbladder papillary neoplasm gallbladder neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002519 MONDO:0001593 True anus disorder rectal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0002522 MONDO:0002171 True tenosynovial giant cell tumor giant cell tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002522 MONDO:0002171 True tenosynovial giant cell tumor giant cell tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0002522 MONDO:0002528 True tenosynovial giant cell tumor synovium neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002525 MONDO:0019052 True inherited lipid metabolism disorder inborn errors of metabolism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0002526 MONDO:0003155 True dermal unilateral segmental cavernous angioma cavernous hemangioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002525 MONDO:0019052 True inherited lipid metabolism disorder inborn errors of metabolism UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0002527 MONDO:0021634 True keratoacanthoma epithelial skin neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0002528 MONDO:0006424 True synovium neoplasm soft tissue neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002529 MONDO:0002656 True skin squamous cell carcinoma skin carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0002529 MONDO:0005096 True skin squamous cell carcinoma squamous cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0002531 MONDO:0005070 True skin neoplasm neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0002531 MONDO:0005093 True skin neoplasm skin disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002529 MONDO:0002656 True skin squamous cell carcinoma skin carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002529 MONDO:0005096 True skin squamous cell carcinoma squamous cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002531 MONDO:0005070 True skin neoplasm neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002531 MONDO:0005093 True skin neoplasm skin disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0002532 MONDO:0005626 True squamous cell neoplasm epithelial neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002533 MONDO:0004972 True papillary adenoma adenoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002533 MONDO:0004972 True papillary adenoma adenoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0002533 MONDO:0021096 True papillary adenoma papillary epithelial neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002534 MONDO:0000645 True fallopian tube papilloma fallopian tube benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002534 MONDO:0000645 True fallopian tube papilloma fallopian tube benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0002534 MONDO:0002363 True fallopian tube papilloma papilloma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002535 MONDO:0002363 True verrucous papilloma papilloma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0002536 MONDO:0002363 True skin papilloma papilloma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002536 MONDO:0002363 True skin papilloma papilloma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0002536 MONDO:0024666 True skin papilloma benign epithelial skin neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002537 MONDO:0002363 True inverted papilloma papilloma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0002540 MONDO:0016695 True childhood oligodendroglioma oligodendroglioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0002541 MONDO:0002542 True spinal cord oligodendroglioma spinal cord glioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0002541 MONDO:0016695 True spinal cord oligodendroglioma oligodendroglioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0002542 MONDO:0003544 True spinal cord glioma spinal cord cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0002542 MONDO:0100342 True spinal cord glioma malignant glioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0002543 MONDO:0016695 True adult oligodendroglioma oligodendroglioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0002544 MONDO:0005499 True brain oligodendroglioma brain glioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002537 MONDO:0002363 True inverted papilloma papilloma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002540 MONDO:0016695 True childhood oligodendroglioma oligodendroglioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002541 MONDO:0002542 True spinal cord oligodendroglioma spinal cord glioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002541 MONDO:0016695 True spinal cord oligodendroglioma oligodendroglioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002543 MONDO:0016695 True adult oligodendroglioma oligodendroglioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0002544 MONDO:0016695 True brain oligodendroglioma oligodendroglioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002545 MONDO:0002602 True spinal cord disorder central nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002545 MONDO:0002602 True spinal cord disorder central nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0002546 MONDO:0002547 True schwannoma nerve sheath neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002546 MONDO:0016752 True schwannoma benign peripheral nerve sheath tumor UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002547 MONDO:0001406 True nerve sheath neoplasm peripheral nervous system neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0002548 MONDO:0002546 True cellular schwannoma schwannoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0002549 MONDO:0002546 True schwannoma of twelfth cranial nerve schwannoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002548 MONDO:0002546 True cellular schwannoma schwannoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002549 MONDO:0002546 True schwannoma of twelfth cranial nerve schwannoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0002549 MONDO:0002550 True schwannoma of twelfth cranial nerve hypoglossal nerve neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0002550 MONDO:0001810 True hypoglossal nerve neoplasm hypoglossal nerve disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0002550 MONDO:0002633 True hypoglossal nerve neoplasm cranial nerve neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002551 MONDO:0002553 True c-P angle neurinoma cerebellopontine angle tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0002552 MONDO:0002545 True vascular myelopathy spinal cord disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002551 MONDO:0002553 True c-P angle neurinoma cerebellopontine angle tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0002553 MONDO:0021211 True cerebellopontine angle tumor brain neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002554 MONDO:0002366 True sympathetic neurilemmoma autonomic nervous system neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0002554 MONDO:0002546 True sympathetic neurilemmoma schwannoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002555 MONDO:0001420 True trigeminal schwannoma trigeminal nerve neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002555 MONDO:0001420 True trigeminal schwannoma trigeminal nerve neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0002555 MONDO:0002546 True trigeminal schwannoma schwannoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0002556 MONDO:0002546 True microcystic/reticular schwannoma schwannoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002558 MONDO:0002546 True melanotic neurilemmoma schwannoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0002559 MONDO:0002546 True plexiform schwannoma schwannoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0002561 MONDO:0019052 True lysosomal storage disease inborn errors of metabolism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002559 MONDO:0002546 True plexiform schwannoma schwannoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002561 MONDO:0019052 True lysosomal storage disease inborn errors of metabolism UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0002563 MONDO:0015064 True jejunal somatostatinoma jejunal neuroendocrine tumor, well differentiated, low or intermediate grade UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002564 MONDO:0004251 True jejunal neoplasm small intestine neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0002565 MONDO:0002545 True myelitis spinal cord disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0002567 MONDO:0004867 True tracheal disorder upper respiratory tract disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0002568 MONDO:0002567 True tracheal stenosis tracheal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0002569 MONDO:0004298 True gastric dilatation stomach disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0002570 MONDO:0002602 True high pressure neurological syndrome central nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0002571 MONDO:0000621 True primary central nervous system lymphoma immune system cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0002571 MONDO:0002714 True primary central nervous system lymphoma central nervous system cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0002571 MONDO:0003641 True primary central nervous system lymphoma central nervous system hematopoietic neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0002571 MONDO:0017207 True primary central nervous system lymphoma primary organ-specific lymphoma UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002571 MONDO:0017343 True primary central nervous system lymphoma Epstein-Barr virus-associated malignant lymphoproliferative disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002574 MONDO:0006389 True prostate embryonal rhabdomyosarcoma prostate rhabdomyosarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002564 MONDO:0004251 True jejunal neoplasm small intestine neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002571 MONDO:0002714 True primary central nervous system lymphoma central nervous system cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002571 MONDO:0003641 True primary central nervous system lymphoma central nervous system hematopoietic neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002571 MONDO:0017207 True primary central nervous system lymphoma primary organ-specific lymphoma UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0002572 MONDO:0043905 True aspiration pneumonitis pneumonitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0002574 MONDO:0006389 True prostate embryonal rhabdomyosarcoma prostate rhabdomyosarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0002574 MONDO:0009993 True prostate embryonal rhabdomyosarcoma embryonal rhabdomyosarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002576 MONDO:0002577 True embryonal extrahepatic bile duct rhabdomyosarcoma extrahepatic bile duct rhabdomyosarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002576 MONDO:0002577 True embryonal extrahepatic bile duct rhabdomyosarcoma extrahepatic bile duct rhabdomyosarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0002576 MONDO:0009993 True embryonal extrahepatic bile duct rhabdomyosarcoma embryonal rhabdomyosarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0002577 MONDO:0024658 True extrahepatic bile duct rhabdomyosarcoma extrahepatic bile duct sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002578 MONDO:0009993 True botryoid rhabdomyosarcoma embryonal rhabdomyosarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0002579 MONDO:0002580 True orbit embryonal rhabdomyosarcoma orbit rhabdomyosarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002578 MONDO:0009993 True botryoid rhabdomyosarcoma embryonal rhabdomyosarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002579 MONDO:0002580 True orbit embryonal rhabdomyosarcoma orbit rhabdomyosarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0002579 MONDO:0009993 True orbit embryonal rhabdomyosarcoma embryonal rhabdomyosarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002580 MONDO:0004943 True orbit rhabdomyosarcoma orbit sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002580 MONDO:0004943 True orbit rhabdomyosarcoma orbit sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0002580 MONDO:0005212 True orbit rhabdomyosarcoma rhabdomyosarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002581 MONDO:0005212 True spindle cell rhabdomyosarcoma rhabdomyosarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0002583 MONDO:0005183 True mucinous ovarian cystadenoma ovarian cystadenoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002581 MONDO:0005212 True spindle cell rhabdomyosarcoma rhabdomyosarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002583 MONDO:0005183 True mucinous ovarian cystadenoma ovarian cystadenoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0002583 MONDO:0006859 True mucinous ovarian cystadenoma mucinous cystadenoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002585 MONDO:0005219 True breast fibrocystic change, proliferative type breast fibrocystic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0002586 MONDO:0000621 True thymus cancer immune system cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002585 MONDO:0005219 True breast fibrocystic change, proliferative type breast fibrocystic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0002586 MONDO:0005197 True thymus cancer thymus neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002586 MONDO:0021069 True thymus cancer malignant endocrine neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0002587 MONDO:0006456 True encapsulated thymoma thymoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0002588 MONDO:0006456 True thymoma type A thymoma UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0002590 MONDO:0006456 True combined thymoma thymoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0002592 MONDO:0006456 True invasive malignant thymoma thymoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0002595 MONDO:0005108 True vaccinia viral infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002587 MONDO:0006456 True encapsulated thymoma thymoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002588 MONDO:0006456 True thymoma type A thymoma UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002592 MONDO:0006456 True invasive malignant thymoma thymoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0002597 MONDO:0005564 True notochordal tumor embryonal neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0002597 MONDO:0019060 True notochordal tumor bone neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0002599 MONDO:0015864 True teratocarcinoma mixed germ cell tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0002601 MONDO:0021656 True teratoma nongerminomatous germ cell tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002602 MONDO:0005071 True central nervous system disorder nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002602 MONDO:0005071 True central nervous system disorder nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0002603 MONDO:0006359 True angiomyolipoma neoplasm with perivascular epithelioid cell differentiation UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0002604 MONDO:0002616 True pericytic neoplasm mesenchymal cell neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0002605 MONDO:0002603 True hepatic angiomyolipoma angiomyolipoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002605 MONDO:0024477 True hepatic angiomyolipoma liver and intrahepatic bile duct neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0002606 MONDO:0002603 True epithelioid type angiomyolipoma angiomyolipoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0002610 MONDO:0002243 True purpura hemorrhagic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0002612 MONDO:0005384 True frontal lobe epilepsy focal epilepsy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0002613 MONDO:0002028 True histrionic personality disorder personality disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0002614 MONDO:0005381 True bone inflammation disease bone disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0002615 MONDO:0019245 True xanthomatosis lysosomal lipid storage disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0002616 MONDO:0005070 True mesenchymal cell neoplasm neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002605 MONDO:0024477 True hepatic angiomyolipoma liver and intrahepatic bile duct neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002606 MONDO:0002603 True epithelioid type angiomyolipoma angiomyolipoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002613 MONDO:0002028 True histrionic personality disorder personality disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002616 MONDO:0005070 True mesenchymal cell neoplasm neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0002617 MONDO:0016982 True bone angiosarcoma angiosarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002617 MONDO:0021054 True bone angiosarcoma bone sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002617 MONDO:0021054 True bone angiosarcoma bone sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0002617 MONDO:0024499 True bone angiosarcoma vascular bone neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0002618 MONDO:0021054 True undifferentiated high grade pleomorphic sarcoma of bone bone sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0002619 MONDO:0005164 True bone fibrosarcoma fibrosarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002619 MONDO:0021054 True bone fibrosarcoma bone sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002619 MONDO:0021054 True bone fibrosarcoma bone sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0002620 MONDO:0009807 True localized osteosarcoma osteosarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0002621 MONDO:0009807 True extraosseous osteosarcoma osteosarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0002621 MONDO:0018078 True extraosseous osteosarcoma soft tissue sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0002622 MONDO:0009807 True multifocal osteogenic sarcoma osteosarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0002623 MONDO:0006517 True pediatric osteosarcoma childhood malignant neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002623 MONDO:0009807 True pediatric osteosarcoma osteosarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0002624 MONDO:0005058 True bone leiomyosarcoma leiomyosarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002623 MONDO:0009807 True pediatric osteosarcoma osteosarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002624 MONDO:0005058 True bone leiomyosarcoma leiomyosarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0002624 MONDO:0021054 True bone leiomyosarcoma bone sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002625 MONDO:0012817 True Ewing sarcoma of bone Ewing sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002625 MONDO:0012817 True Ewing sarcoma of bone Ewing sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0002625 MONDO:0021054 True Ewing sarcoma of bone bone sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0002625 MONDO:0021123 True Ewing sarcoma of bone Ewing sarcoma/peripheral primitive neuroectodermal tumor of bone UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0002626 MONDO:0002633 True spinal accessory nerve neoplasm cranial nerve neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0002626 MONDO:0002636 True spinal accessory nerve neoplasm accessory nerve disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0002627 MONDO:0002631 True chondroblastic osteosarcoma conventional osteosarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002628 MONDO:0002629 True peripheral osteosarcoma bone osteosarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0002629 MONDO:0009807 True bone osteosarcoma osteosarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0002629 MONDO:0021054 True bone osteosarcoma bone sarcoma UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0002630 MONDO:0002129 True small cell osteogenic sarcoma bone cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002628 MONDO:0002629 True peripheral osteosarcoma bone osteosarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002629 MONDO:0009807 True bone osteosarcoma osteosarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002629 MONDO:0021054 True bone osteosarcoma bone sarcoma UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002630 MONDO:0002129 True small cell osteogenic sarcoma bone cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0002630 MONDO:0006974 True small cell osteogenic sarcoma small cell sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002631 MONDO:0002629 True conventional osteosarcoma bone osteosarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002631 MONDO:0002629 True conventional osteosarcoma bone osteosarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0002632 MONDO:0002629 True metachronous osteosarcoma of the bone bone osteosarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0002633 MONDO:0003569 True cranial nerve neoplasm cranial nerve neuropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0002634 MONDO:0005060 True liposarcoma of bone liposarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0002634 MONDO:0021054 True liposarcoma of bone bone sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002636 MONDO:0003569 True accessory nerve disorder cranial nerve neuropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0002636 MONDO:0003620 True accessory nerve disorder peripheral nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0002637 MONDO:0005833 True histiocytosis lymphatic system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002635 MONDO:0006999 True periodontal disorder tooth disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002636 MONDO:0003569 True accessory nerve disorder cranial nerve neuropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0002638 MONDO:0002633 True glossopharyngeal nerve neoplasm cranial nerve neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0002638 MONDO:0002639 True glossopharyngeal nerve neoplasm glossopharyngeal nerve disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002639 MONDO:0003569 True glossopharyngeal nerve disorder cranial nerve neuropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0002639 MONDO:0003620 True glossopharyngeal nerve disorder peripheral nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0002640 MONDO:0002135 True optic nerve neoplasm optic nerve disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002639 MONDO:0003569 True glossopharyngeal nerve disorder cranial nerve neuropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002640 MONDO:0002135 True optic nerve neoplasm optic nerve disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0002640 MONDO:0002633 True optic nerve neoplasm cranial nerve neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0002640 MONDO:0006130 True optic nerve neoplasm central nervous system neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002641 MONDO:0000473 True subclavian artery aneurysm arterial disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0002642 MONDO:0002633 True trochlear nerve neoplasm cranial nerve neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0002642 MONDO:0007002 True trochlear nerve neoplasm trochlear nerve disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002643 MONDO:0002467 True vestibular disorder inner ear disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0002644 MONDO:0021167 True idiopathic granulomatous myositis myositis disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0002645 MONDO:0005560 True cerebritis brain disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0002646 MONDO:0004777 True viral laryngitis acute laryngitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0002647 MONDO:0004382 True laryngitis laryngeal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0002648 MONDO:0004988 True mammary Paget disease breast adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002644 MONDO:0021167 True idiopathic granulomatous myositis myositis disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002645 MONDO:0005560 True cerebritis brain disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002647 MONDO:0004382 True laryngitis laryngeal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002648 MONDO:0004988 True mammary Paget disease breast adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0002648 MONDO:0021165 True mammary Paget disease Paget disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002649 MONDO:0002650 True scrotum Paget disease scrotal carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002649 MONDO:0002650 True scrotum Paget disease scrotal carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0002649 MONDO:0021165 True scrotum Paget disease Paget disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002650 MONDO:0004993 True scrotal carcinoma carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002650 MONDO:0004993 True scrotal carcinoma carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0002650 MONDO:0021112 True scrotal carcinoma scrotum cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002651 MONDO:0002652 True anal Paget disease anus adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002651 MONDO:0002652 True anal Paget disease anus adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0002651 MONDO:0008177 True anal Paget disease extramammary Paget disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002652 MONDO:0003199 True anus adenocarcinoma anal carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0002653 MONDO:0006360 True Paget disease of the penis penile carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002652 MONDO:0003199 True anus adenocarcinoma anal carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002653 MONDO:0006360 True Paget disease of the penis penile carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0002653 MONDO:0008177 True Paget disease of the penis extramammary Paget disease UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002654 MONDO:0002263 True uterine disorder female reproductive system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0002655 MONDO:0002656 True cutaneous Paget disease skin carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0002656 MONDO:0002898 True skin carcinoma skin cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0002656 MONDO:0004993 True skin carcinoma carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002654 MONDO:0002263 True uterine disorder female reproductive system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002656 MONDO:0002898 True skin carcinoma skin cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002656 MONDO:0004993 True skin carcinoma carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0002656 MONDO:0021634 True skin carcinoma epithelial skin neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002658 MONDO:0002659 True iris cancer uveal cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002658 MONDO:0002659 True iris cancer uveal cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0002658 MONDO:0021224 True iris cancer iris neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002659 MONDO:0002236 True uveal cancer ocular cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002659 MONDO:0002236 True uveal cancer ocular cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0002659 MONDO:0021225 True uveal cancer uvea neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002660 MONDO:0003382 True blepharochalasis eyelid disorder UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0002661 MONDO:0005328 True uveal disorder eye disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002661 MONDO:0005328 True uveal disorder eye disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0002664 MONDO:0002665 True extrahepatic bile duct signet ring cell carcinoma extrahepatic bile duct adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0002664 MONDO:0005092 True extrahepatic bile duct signet ring cell carcinoma signet ring cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002665 MONDO:0003090 True extrahepatic bile duct adenocarcinoma extrahepatic bile duct carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0002665 MONDO:0003193 True extrahepatic bile duct adenocarcinoma bile duct adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002665 MONDO:0003090 True extrahepatic bile duct adenocarcinoma extrahepatic bile duct carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002665 MONDO:0003193 True extrahepatic bile duct adenocarcinoma bile duct adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0002666 MONDO:0005092 True pancreatic signet ring cell adenocarcinoma signet ring cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002666 MONDO:0005184 True pancreatic signet ring cell adenocarcinoma pancreatic ductal adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002666 MONDO:0005184 True pancreatic signet ring cell adenocarcinoma pancreatic ductal adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0002667 MONDO:0005092 True gallbladder signet ring cell adenocarcinoma signet ring cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002667 MONDO:0006215 True gallbladder signet ring cell adenocarcinoma gallbladder adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0002669 MONDO:0002670 True ampullary signet ring cell adenocarcinoma ampulla of vater adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0002670 MONDO:0017590 True ampulla of vater adenocarcinoma carcinoma of the ampulla of vater UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0002671 MONDO:0004988 True signet ring cell breast carcinoma breast adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002667 MONDO:0006215 True gallbladder signet ring cell adenocarcinoma gallbladder adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002669 MONDO:0002670 True ampullary signet ring cell adenocarcinoma ampulla of vater adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002670 MONDO:0017590 True ampulla of vater adenocarcinoma carcinoma of the ampulla of vater UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002671 MONDO:0004988 True signet ring cell breast carcinoma breast adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0002671 MONDO:0005092 True signet ring cell breast carcinoma signet ring cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0002671 MONDO:0006256 True signet ring cell breast carcinoma invasive breast carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0002672 MONDO:0002493 True acinar prostate adenocarcinoma, signet ring variant prostatic acinar adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0002672 MONDO:0005092 True acinar prostate adenocarcinoma, signet ring variant signet ring cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002674 MONDO:0005240 True stricture or kinking of ureter kidney disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0002675 MONDO:0016755 True neurofibrosarcoma neurofibroma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0002677 MONDO:0005164 True conventional fibrosarcoma fibrosarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0002678 MONDO:0005164 True pediatric fibrosarcoma fibrosarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002677 MONDO:0005164 True conventional fibrosarcoma fibrosarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002678 MONDO:0005164 True pediatric fibrosarcoma fibrosarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0002678 MONDO:0006517 True pediatric fibrosarcoma childhood malignant neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002679 MONDO:0005394 True cerebral infarction brain infarction UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0002681 MONDO:0002682 True choroid plexus cancer cerebral ventricle cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002681 MONDO:0002682 True choroid plexus cancer cerebral ventricle cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0002681 MONDO:0016717 True choroid plexus cancer choroid plexus neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002682 MONDO:0001657 True cerebral ventricle cancer brain cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0002683 MONDO:0016717 True adult choroid plexus neoplasm choroid plexus neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002684 MONDO:0016717 True atypical choroid plexus papilloma choroid plexus neoplasm UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002685 MONDO:0002071 True childhood choroid plexus carcinoma supratentorial cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002684 MONDO:0016717 True atypical choroid plexus papilloma choroid plexus neoplasm UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0002685 MONDO:0002071 True childhood choroid plexus carcinoma supratentorial cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0002685 MONDO:0006517 True childhood choroid plexus carcinoma childhood malignant neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0002685 MONDO:0016718 True childhood choroid plexus carcinoma choroid plexus carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0002685 MONDO:0024744 True childhood choroid plexus carcinoma childhood choroid plexus neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002687 MONDO:0002688 True superior mesenteric artery syndrome duodenal obstruction UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0002688 MONDO:0002866 True duodenal obstruction duodenal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0002691 MONDO:0002516 True liver cancer digestive system cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0002691 MONDO:0021069 True liver cancer malignant endocrine neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002687 MONDO:0002254 True superior mesenteric artery syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002691 MONDO:0002516 True liver cancer digestive system cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0002691 MONDO:0024477 True liver cancer liver and intrahepatic bile duct neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002692 MONDO:0002907 True intracranial sinus thrombosis intracranial thrombosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0002693 MONDO:0002692 True lateral sinus thrombosis intracranial sinus thrombosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0002694 MONDO:0002692 True cavernous sinus thrombosis intracranial sinus thrombosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0002695 MONDO:0002692 True sagittal sinus thrombosis intracranial sinus thrombosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0002696 MONDO:0006055 True Sertoli cell tumor sex cord-stromal tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0002697 MONDO:0010768 True ovarian gonadoblastoma gonadoblastoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0002698 MONDO:0010768 True testicular gonadoblastoma gonadoblastoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0002701 MONDO:0002702 True ovarian mucinous cystadenocarcinoma ovarian cystadenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002696 MONDO:0006055 True Sertoli cell tumor sex cord-stromal tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002697 MONDO:0010768 True ovarian gonadoblastoma gonadoblastoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002698 MONDO:0010768 True testicular gonadoblastoma gonadoblastoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002701 MONDO:0002702 True ovarian mucinous cystadenocarcinoma ovarian cystadenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0002701 MONDO:0005601 True ovarian mucinous cystadenocarcinoma ovarian mucinous adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0002701 MONDO:0005858 True ovarian mucinous cystadenocarcinoma mucinous cystadenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002702 MONDO:0002752 True ovarian cystadenocarcinoma ovarian adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002702 MONDO:0002752 True ovarian cystadenocarcinoma ovarian adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0002702 MONDO:0005596 True ovarian cystadenocarcinoma cystadenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0002703 MONDO:0005858 True appendix mucinous cystadenocarcinoma mucinous cystadenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0002703 MONDO:0018330 True appendix mucinous cystadenocarcinoma mucinous adenocarcinoma of the appendix UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002705 MONDO:0004988 True breast mucinous cystadenocarcinoma breast adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002705 MONDO:0004988 True breast mucinous cystadenocarcinoma breast adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0002705 MONDO:0005858 True breast mucinous cystadenocarcinoma mucinous cystadenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002706 MONDO:0002256 True cervix endometriosis cervix disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002706 MONDO:0002256 True cervix endometriosis cervix disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002706 MONDO:0005133 True cervix endometriosis endometriosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0002707 MONDO:0004957 True breast mucinous carcinoma mucinous adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002708 MONDO:0005283 True retinitis retinal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0002710 MONDO:0006085 True infiltrating angiolipoma angiolipoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002708 MONDO:0005283 True retinitis retinal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002710 MONDO:0006085 True infiltrating angiolipoma angiolipoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0002712 MONDO:0002713 True epidural spinal canal angiolipoma epidural spinal canal neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002712 MONDO:0006085 True epidural spinal canal angiolipoma angiolipoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0002713 MONDO:0005070 True epidural spinal canal neoplasm neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0002714 MONDO:0005872 True central nervous system cancer nervous system cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002712 MONDO:0006085 True epidural spinal canal angiolipoma angiolipoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002713 MONDO:0005070 True epidural spinal canal neoplasm neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002714 MONDO:0005872 True central nervous system cancer nervous system cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0002714 MONDO:0006130 True central nervous system cancer central nervous system neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002715 MONDO:0001416 True uterine cancer female reproductive organ cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002715 MONDO:0001416 True uterine cancer female reproductive organ cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0002715 MONDO:0021353 True uterine cancer tumor of uterus UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0002716 MONDO:0021079 True childhood spinal cord tumor childhood neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0002716 MONDO:0021234 True childhood spinal cord tumor spinal cord neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0002717 MONDO:0002718 True spinal cord intramedullary teratoma central nervous system teratoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0002718 MONDO:0002601 True central nervous system teratoma teratoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002718 MONDO:0019500 True central nervous system teratoma extragonadal teratoma UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0002718 MONDO:0020574 True central nervous system teratoma central nervous system nongerminomatous germ cell tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0002719 MONDO:0021234 True conus medullaris neoplasm spinal cord neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002720 MONDO:0002785 True sella turcica neoplasm skull base neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0002721 MONDO:0003381 True necrosis of pituitary pituitary gland disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002720 MONDO:0002785 True sella turcica neoplasm skull base neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002721 MONDO:0003381 True necrosis of pituitary pituitary gland disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0002722 MONDO:0002633 True olfactory nerve neoplasm cranial nerve neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0002722 MONDO:0002727 True olfactory nerve neoplasm olfactory nerve disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0002724 MONDO:0005170 True mast cell neoplasm myeloid neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002726 MONDO:0002724 True cutaneous solitary mastocytoma mast cell neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0002727 MONDO:0003569 True olfactory nerve disorder cranial nerve neuropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0002727 MONDO:0003620 True olfactory nerve disorder peripheral nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002726 MONDO:0002724 True cutaneous solitary mastocytoma mast cell neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002727 MONDO:0003569 True olfactory nerve disorder cranial nerve neuropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0002728 MONDO:0005564 True rhabdoid tumor embryonal neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002728 MONDO:0018078 True rhabdoid tumor soft tissue sarcoma UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002729 MONDO:0002728 True rhabdoid tumor of the kidney rhabdoid tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002729 MONDO:0002728 True rhabdoid tumor of the kidney rhabdoid tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0002730 MONDO:0021079 True childhood kidney neoplasm childhood neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0002730 MONDO:0021163 True childhood kidney neoplasm kidney neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002731 MONDO:0002071 True cerebral hemisphere cancer supratentorial cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002731 MONDO:0002071 True cerebral hemisphere cancer supratentorial cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0002731 MONDO:0021374 True cerebral hemisphere cancer neoplasm of cerebral hemisphere UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002732 MONDO:0000382 True lung benign neoplasm respiratory system benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0002732 MONDO:0000634 True lung benign neoplasm thoracic benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0002732 MONDO:0021117 True lung benign neoplasm lung neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002734 MONDO:0002652 True anal mucinous adenocarcinoma anus adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002734 MONDO:0002652 True anal mucinous adenocarcinoma anus adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0002735 MONDO:0002652 True anal canal adenocarcinoma anus adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002735 MONDO:0007108 True anal canal adenocarcinoma anal canal carcinoma UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002736 MONDO:0002670 True ampulla of vater mucinous adenocarcinoma ampulla of vater adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0002737 MONDO:0002738 True acute sanguinous otitis media acute transudative otitis media UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0002738 MONDO:0001212 True acute transudative otitis media non-suppurative otitis media UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002735 MONDO:0007108 True anal canal adenocarcinoma anal canal carcinoma UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002736 MONDO:0002670 True ampulla of vater mucinous adenocarcinoma ampulla of vater adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0002739 MONDO:0002665 True extrahepatic bile duct mucinous adenocarcinoma extrahepatic bile duct adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002739 MONDO:0004957 True extrahepatic bile duct mucinous adenocarcinoma mucinous adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0002740 MONDO:0002741 True uterine ligament mucinous adenocarcinoma uterine ligament adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0002741 MONDO:0003612 True uterine ligament adenocarcinoma uterine ligament cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0002742 MONDO:0004957 True cervical mucinous adenocarcinoma mucinous adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0002742 MONDO:0005153 True cervical mucinous adenocarcinoma cervical adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002739 MONDO:0004957 True extrahepatic bile duct mucinous adenocarcinoma mucinous adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002740 MONDO:0002741 True uterine ligament mucinous adenocarcinoma uterine ligament adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002741 MONDO:0003612 True uterine ligament adenocarcinoma uterine ligament cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002742 MONDO:0004957 True cervical mucinous adenocarcinoma mucinous adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002742 MONDO:0005153 True cervical mucinous adenocarcinoma cervical adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0002744 MONDO:0002745 True fallopian tube mucinous adenocarcinoma fallopian tube mucinous tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002744 MONDO:0002746 True fallopian tube mucinous adenocarcinoma fallopian tube adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0002744 MONDO:0004957 True fallopian tube mucinous adenocarcinoma mucinous adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002744 MONDO:0002746 True fallopian tube mucinous adenocarcinoma fallopian tube adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002744 MONDO:0004957 True fallopian tube mucinous adenocarcinoma mucinous adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0002745 MONDO:0021092 True fallopian tube mucinous tumor fallopian tube neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0002745 MONDO:0024338 True fallopian tube mucinous tumor mucinous neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002746 MONDO:0004970 True fallopian tube adenocarcinoma adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0002746 MONDO:0006206 True fallopian tube adenocarcinoma fallopian tube carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0002747 MONDO:0004957 True endometrial mucinous adenocarcinoma mucinous adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0002747 MONDO:0005461 True endometrial mucinous adenocarcinoma endometrium adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0002748 MONDO:0002169 True rectum mucinous adenocarcinoma rectum adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0002748 MONDO:0004957 True rectum mucinous adenocarcinoma mucinous adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0002749 MONDO:0005072 True extracranial neuroblastoma neuroblastoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0002750 MONDO:0002751 True bladder colloid adenocarcinoma bladder adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0002751 MONDO:0004970 True bladder adenocarcinoma adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0002751 MONDO:0004986 True bladder adenocarcinoma urinary bladder carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0002752 MONDO:0004970 True ovarian adenocarcinoma adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0002752 MONDO:0005140 True ovarian adenocarcinoma ovarian carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0002754 MONDO:0005615 True extramedullary plasmacytoma plasmacytoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0002755 MONDO:0005615 True solitary osseous plasmacytoma plasmacytoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0002756 MONDO:0000621 True solitary plasmacytoma of chest wall immune system cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0002756 MONDO:0005615 True solitary plasmacytoma of chest wall plasmacytoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0002757 MONDO:0002737 True acute allergic sanguinous otitis media acute sanguinous otitis media UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002746 MONDO:0004970 True fallopian tube adenocarcinoma adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002746 MONDO:0006206 True fallopian tube adenocarcinoma fallopian tube carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002747 MONDO:0004957 True endometrial mucinous adenocarcinoma mucinous adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002747 MONDO:0005461 True endometrial mucinous adenocarcinoma endometrium adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002748 MONDO:0002169 True rectum mucinous adenocarcinoma rectum adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002748 MONDO:0004957 True rectum mucinous adenocarcinoma mucinous adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002749 MONDO:0005072 True extracranial neuroblastoma neuroblastoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002750 MONDO:0002751 True bladder colloid adenocarcinoma bladder adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002751 MONDO:0004970 True bladder adenocarcinoma adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002751 MONDO:0004986 True bladder adenocarcinoma urinary bladder carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002752 MONDO:0004970 True ovarian adenocarcinoma adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002752 MONDO:0005140 True ovarian adenocarcinoma ovarian carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002754 MONDO:0005615 True extramedullary plasmacytoma plasmacytoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002755 MONDO:0005615 True solitary osseous plasmacytoma plasmacytoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002756 MONDO:0005615 True solitary plasmacytoma of chest wall plasmacytoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0002758 MONDO:0006006 True vulva verrucous carcinoma verrucous carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002758 MONDO:0024609 True vulva verrucous carcinoma vulvar squamous cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0002759 MONDO:0002760 True bladder verrucous carcinoma bladder squamous cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002758 MONDO:0024609 True vulva verrucous carcinoma vulvar squamous cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002759 MONDO:0002760 True bladder verrucous carcinoma bladder squamous cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0002759 MONDO:0006006 True bladder verrucous carcinoma verrucous carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002760 MONDO:0004986 True bladder squamous cell carcinoma urinary bladder carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0002760 MONDO:0005096 True bladder squamous cell carcinoma squamous cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002760 MONDO:0004986 True bladder squamous cell carcinoma urinary bladder carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002760 MONDO:0005096 True bladder squamous cell carcinoma squamous cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0002761 MONDO:0006006 True cervical verrucous carcinoma verrucous carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002761 MONDO:0006143 True cervical verrucous carcinoma cervical squamous cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0002762 MONDO:0005580 True esophagus verrucous carcinoma esophageal squamous cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002761 MONDO:0006143 True cervical verrucous carcinoma cervical squamous cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002762 MONDO:0005580 True esophagus verrucous carcinoma esophageal squamous cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0002762 MONDO:0006006 True esophagus verrucous carcinoma verrucous carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002763 MONDO:0002764 True urethral verrucous carcinoma urethra squamous cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002763 MONDO:0002764 True urethral verrucous carcinoma urethra squamous cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0002763 MONDO:0006006 True urethral verrucous carcinoma verrucous carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002764 MONDO:0005096 True urethra squamous cell carcinoma squamous cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002764 MONDO:0005096 True urethra squamous cell carcinoma squamous cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0002764 MONDO:0021327 True urethra squamous cell carcinoma carcinoma of urethra UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002765 MONDO:0002529 True plantar verrucous skin carcinoma skin squamous cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002765 MONDO:0002529 True plantar verrucous skin carcinoma skin squamous cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0002765 MONDO:0006006 True plantar verrucous skin carcinoma verrucous carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002766 MONDO:0005595 True larynx verrucous carcinoma laryngeal squamous cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002766 MONDO:0005595 True larynx verrucous carcinoma laryngeal squamous cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0002766 MONDO:0006006 True larynx verrucous carcinoma verrucous carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002768 MONDO:0002145 True true hermaphroditism disorder of sexual differentiation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0002769 MONDO:0002770 True leukorrhea vaginal discharge UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0002770 MONDO:0001433 True vaginal discharge vaginal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0002771 MONDO:0015925 True pulmonary fibrosis interstitial lung disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0002772 MONDO:0002682 True intraventricular meningioma cerebral ventricle cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002775 MONDO:0005558 True anovulation ovarian disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0002776 MONDO:0002409 True external ear disorder auditory system disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0002778 MONDO:0001279 True epidural spinal canal meningioma intraspinal meningioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0002779 MONDO:0000628 True central nervous system chondroma central nervous system organ benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002776 MONDO:0002409 True external ear disorder auditory system disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002776 MONDO:0021205 True external ear disorder disorder of ear UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0002778 MONDO:0001279 True epidural spinal canal meningioma intraspinal meningioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0002779 MONDO:0006423 True central nervous system chondroma soft tissue chondroma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0002781 MONDO:0002639 True glossopharyngeal nerve paralysis glossopharyngeal nerve disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002781 MONDO:0002782 True glossopharyngeal nerve paralysis cranial nerve palsy UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0002782 MONDO:0003569 True cranial nerve palsy cranial nerve neuropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0002783 MONDO:0018882 True Shwartzman phenomenon vasculitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002781 MONDO:0002782 True glossopharyngeal nerve paralysis cranial nerve palsy UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002782 MONDO:0003569 True cranial nerve palsy cranial nerve neuropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0002785 MONDO:0024653 True skull base neoplasm skull neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002786 MONDO:0002071 True diencephalic cancer supratentorial cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0002787 MONDO:0018907 True adamantinous craniopharyngioma craniopharyngioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0002788 MONDO:0018907 True papillary craniopharyngioma craniopharyngioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0002789 MONDO:0002604 True hemangiopericytic tumor pericytic neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0002791 MONDO:0007959 True large cell medulloblastoma medulloblastoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0002792 MONDO:0007959 True cerebellar vermis medulloblastoma medulloblastoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002786 MONDO:0002071 True diencephalic cancer supratentorial cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002787 MONDO:0018907 True adamantinous craniopharyngioma craniopharyngioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002788 MONDO:0018907 True papillary craniopharyngioma craniopharyngioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002791 MONDO:0007959 True large cell medulloblastoma medulloblastoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002792 MONDO:0007959 True cerebellar vermis medulloblastoma medulloblastoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0002794 MONDO:0003260 True adult medulloblastoma adult cerebellar neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002794 MONDO:0007959 True adult medulloblastoma medulloblastoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0002795 MONDO:0000640 True adult central nervous system primitive neuroectodermal neoplasm central nervous system primitive neuroectodermal neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0002796 MONDO:0007959 True melanotic medulloblastoma medulloblastoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002794 MONDO:0007959 True adult medulloblastoma medulloblastoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002795 MONDO:0000640 True adult central nervous system primitive neuroectodermal neoplasm central nervous system primitive neuroectodermal neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002796 MONDO:0007959 True melanotic medulloblastoma medulloblastoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0002797 MONDO:0003263 True childhood medulloblastoma childhood cerebellar neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002797 MONDO:0007959 True childhood medulloblastoma medulloblastoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0002798 MONDO:0000640 True childhood central nervous system primitive neuroectodermal neoplasm central nervous system primitive neuroectodermal neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002797 MONDO:0007959 True childhood medulloblastoma medulloblastoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002798 MONDO:0000640 True childhood central nervous system primitive neuroectodermal neoplasm central nervous system primitive neuroectodermal neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0002798 MONDO:0006517 True childhood central nervous system primitive neuroectodermal neoplasm childhood malignant neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002799 MONDO:0007959 True nodular medulloblastoma medulloblastoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0002800 MONDO:0004625 True thrombophlebitis phlebitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0002801 MONDO:0002802 True colonic pseudo-obstruction functional colonic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0002802 MONDO:0003409 True functional colonic disease colonic disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0002804 MONDO:0003686 True apocrine adenoma apocrine sweat gland neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002800 MONDO:0004625 True thrombophlebitis phlebitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002804 MONDO:0003686 True apocrine adenoma apocrine sweat gland neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0002805 MONDO:0021110 True hidradenoma sweat gland adenoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002806 MONDO:0001672 True bronchogenic carcinoma bronchus cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0002806 MONDO:0005138 True bronchogenic carcinoma lung carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002807 MONDO:0001358 True bronchial neoplasm bronchial disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0002808 MONDO:0002809 True pancreatic serous cystadenoma pancreatic cystadenoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002808 MONDO:0002809 True pancreatic serous cystadenoma pancreatic cystadenoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0002808 MONDO:0005177 True pancreatic serous cystadenoma serous cystadenoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0002809 MONDO:0002369 True pancreatic cystadenoma cystadenoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0002809 MONDO:0021076 True pancreatic cystadenoma pancreatic exocrine neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0002810 MONDO:0021076 True pancreatic serous cystic neoplasm pancreatic exocrine neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002814 MONDO:0002817 True adrenal carcinoma adrenal gland cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0002815 MONDO:0004496 True acute myocarditis myocarditis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0002816 MONDO:0005495 True adrenal cortex disorder adrenal gland disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002815 MONDO:0004496 True acute myocarditis myocarditis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0002817 MONDO:0005941 True adrenal gland cancer retroperitoneal cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002817 MONDO:0021069 True adrenal gland cancer malignant endocrine neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0002817 MONDO:0021227 True adrenal gland cancer adrenal gland neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002821 MONDO:0005034 True trabecular follicular adenocarcinoma thyroid gland follicular carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0002822 MONDO:0004970 True trabecular adenocarcinoma adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002824 MONDO:0004994 True extrinsic cardiomyopathy cardiomyopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0002828 MONDO:0002829 True Bartholin gland transitional cell carcinoma bartholin gland carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002828 MONDO:0002829 True Bartholin gland transitional cell carcinoma bartholin gland carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0002828 MONDO:0006474 True Bartholin gland transitional cell carcinoma transitional cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002829 MONDO:0005215 True bartholin gland carcinoma vulvar carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002829 MONDO:0005215 True bartholin gland carcinoma vulvar carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0002829 MONDO:0021114 True bartholin gland carcinoma Bartholin gland neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0002831 MONDO:0044787 True non-keratinizing sinonasal squamous cell carcinoma nasal cavity and paranasal sinus squamous cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002832 MONDO:0002447 True endometrial transitional cell carcinoma endometrial carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0002832 MONDO:0006474 True endometrial transitional cell carcinoma transitional cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0002833 MONDO:0006206 True fallopian tube transitional cell carcinoma fallopian tube carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0002833 MONDO:0006474 True fallopian tube transitional cell carcinoma transitional cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0002834 MONDO:0005159 True primary prostate urothelial carcinoma prostate carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0002834 MONDO:0006474 True primary prostate urothelial carcinoma transitional cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002832 MONDO:0002447 True endometrial transitional cell carcinoma endometrial carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002832 MONDO:0006474 True endometrial transitional cell carcinoma transitional cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002833 MONDO:0006206 True fallopian tube transitional cell carcinoma fallopian tube carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002833 MONDO:0006474 True fallopian tube transitional cell carcinoma transitional cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002834 MONDO:0005159 True primary prostate urothelial carcinoma prostate carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002834 MONDO:0006474 True primary prostate urothelial carcinoma transitional cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0002836 MONDO:0021327 True urethra transitional cell carcinoma carcinoma of urethra UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0002836 MONDO:0040679 True urethra transitional cell carcinoma urothelial carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0002837 MONDO:0006406 True sarcomatoid transitional cell carcinoma sarcomatoid carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002837 MONDO:0006474 True sarcomatoid transitional cell carcinoma transitional cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0002839 MONDO:0004298 True leather-bottle stomach stomach disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0002840 MONDO:0004966 True eosinophilic gastritis gastritis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0002842 MONDO:0004966 True bacterial gastritis gastritis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0002842 MONDO:0005113 True bacterial gastritis bacterial infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0002843 MONDO:0002041 True fungal gastritis fungal infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0002843 MONDO:0004966 True fungal gastritis gastritis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0002844 MONDO:0004966 True lymphocytic gastritis gastritis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0002845 MONDO:0004966 True necrotizing gastritis gastritis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0002846 MONDO:0004966 True granulomatous gastritis gastritis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002837 MONDO:0006474 True sarcomatoid transitional cell carcinoma transitional cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002839 MONDO:0045054 True leather-bottle stomach cancer-related condition UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0002840 MONDO:0004966 True eosinophilic gastritis gastritis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002840 MONDO:0016129 True eosinophilic gastritis eosinophilic gastroenteritis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002842 MONDO:0004966 True bacterial gastritis gastritis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002842 MONDO:0043424 True bacterial gastritis digestive system infectious disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0002843 MONDO:0004966 True fungal gastritis gastritis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002844 MONDO:0004966 True lymphocytic gastritis gastritis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002845 MONDO:0004966 True necrotizing gastritis gastritis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002846 MONDO:0004966 True granulomatous gastritis gastritis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0002847 MONDO:0002848 True skeletal muscle cancer skeletal muscle neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002847 MONDO:0005864 True skeletal muscle cancer muscle cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0002848 MONDO:0005070 True skeletal muscle neoplasm neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0002849 MONDO:0002397 True liver rhabdomyosarcoma liver sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002847 MONDO:0005864 True skeletal muscle cancer muscle cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002848 MONDO:0005070 True skeletal muscle neoplasm neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002849 MONDO:0002397 True liver rhabdomyosarcoma liver sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0002849 MONDO:0005212 True liver rhabdomyosarcoma rhabdomyosarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0002850 MONDO:0002217 True central nervous system rhabdomyosarcoma central nervous system sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002850 MONDO:0005212 True central nervous system rhabdomyosarcoma rhabdomyosarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002850 MONDO:0005212 True central nervous system rhabdomyosarcoma rhabdomyosarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0002851 MONDO:0002852 True mediastinum rhabdomyosarcoma mediastinum sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002851 MONDO:0005212 True mediastinum rhabdomyosarcoma rhabdomyosarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002851 MONDO:0005212 True mediastinum rhabdomyosarcoma rhabdomyosarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0002852 MONDO:0018078 True mediastinum sarcoma soft tissue sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0002852 MONDO:0037743 True mediastinum sarcoma mediastinal soft tissue cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002853 MONDO:0002168 True rectum rhabdomyosarcoma rectum sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002853 MONDO:0002168 True rectum rhabdomyosarcoma rectum sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0002853 MONDO:0005212 True rectum rhabdomyosarcoma rhabdomyosarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002854 MONDO:0008315 True prostate sarcoma prostate cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002854 MONDO:0008315 True prostate sarcoma prostate cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0002854 MONDO:0018078 True prostate sarcoma soft tissue sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0002855 MONDO:0005089 True ectomesenchymoma sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002855 MONDO:0005872 True ectomesenchymoma nervous system cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0002856 MONDO:0002857 True gallbladder rhabdomyosarcoma gallbladder sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002856 MONDO:0005212 True gallbladder rhabdomyosarcoma rhabdomyosarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0002857 MONDO:0005411 True gallbladder sarcoma gallbladder cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002856 MONDO:0005212 True gallbladder rhabdomyosarcoma rhabdomyosarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002857 MONDO:0005411 True gallbladder sarcoma gallbladder cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0002857 MONDO:0018078 True gallbladder sarcoma soft tissue sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0002858 MONDO:0002225 True ovary rhabdomyosarcoma ovarian sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002858 MONDO:0005212 True ovary rhabdomyosarcoma rhabdomyosarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0002859 MONDO:0002490 True breast rhabdomyosarcoma breast sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002858 MONDO:0005212 True ovary rhabdomyosarcoma rhabdomyosarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002859 MONDO:0002490 True breast rhabdomyosarcoma breast sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0002859 MONDO:0005212 True breast rhabdomyosarcoma rhabdomyosarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002860 MONDO:0002861 True testis rhabdomyosarcoma testis sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002860 MONDO:0002861 True testis rhabdomyosarcoma testis sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0002860 MONDO:0005212 True testis rhabdomyosarcoma rhabdomyosarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002861 MONDO:0005447 True testis sarcoma testicular cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002861 MONDO:0005447 True testis sarcoma testicular cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0002861 MONDO:0018078 True testis sarcoma soft tissue sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002862 MONDO:0003059 True bile duct sarcoma bile duct cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0002863 MONDO:0005212 True rhabdomyosarcoma with mixed embryonal and alveolar features rhabdomyosarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002863 MONDO:0005212 True rhabdomyosarcoma with mixed embryonal and alveolar features rhabdomyosarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0002864 MONDO:0002865 True anus rhabdomyosarcoma anus sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002865 MONDO:0001879 True anus sarcoma anus cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002865 MONDO:0001879 True anus sarcoma anus cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0002865 MONDO:0018078 True anus sarcoma soft tissue sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0002867 MONDO:0005596 True pancreatic cystadenocarcinoma cystadenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002867 MONDO:0006047 True pancreatic cystadenocarcinoma pancreatic adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002867 MONDO:0006047 True pancreatic cystadenocarcinoma pancreatic adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0002868 MONDO:0003420 True bile duct mucinous cystic neoplasm with an associated invasive carcinoma bile duct cystadenoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002869 MONDO:0005267 True heart valve disorder heart disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0002870 MONDO:0000471 True tricuspid valve insufficiency tricuspid valve disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0002871 MONDO:0002872 True testicular trophoblastic tumor trophoblastic neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002869 MONDO:0005267 True heart valve disorder heart disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002870 MONDO:0000471 True tricuspid valve insufficiency tricuspid valve disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002871 MONDO:0002872 True testicular trophoblastic tumor trophoblastic neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002871 MONDO:0002874 True testicular trophoblastic tumor testicular pure germ cell tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0002871 MONDO:0006447 True testicular trophoblastic tumor testicular non-seminomatous germ cell tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002872 MONDO:0005070 True trophoblastic neoplasm neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0002874 MONDO:0010108 True testicular pure germ cell tumor testicular germ cell tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002872 MONDO:0005070 True trophoblastic neoplasm neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002874 MONDO:0010108 True testicular pure germ cell tumor testicular germ cell tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0002876 MONDO:0005636 True cervical adenosarcoma adenosarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002876 MONDO:0016277 True cervical adenosarcoma malignant mixed epithelial and mesenchymal tumor of cervix uteri UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0002877 MONDO:0006485 True cervical carcinosarcoma uterine carcinosarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002877 MONDO:0016277 True cervical carcinosarcoma malignant mixed epithelial and mesenchymal tumor of cervix uteri UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002878 MONDO:0002879 True uterine corpus adenosarcoma uterine body mixed cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002878 MONDO:0002879 True uterine corpus adenosarcoma uterine body mixed cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0002878 MONDO:0005636 True uterine corpus adenosarcoma adenosarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0002879 MONDO:0005853 True uterine body mixed cancer malignant mixed neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002879 MONDO:0006003 True uterine body mixed cancer uterine corpus cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0002879 MONDO:0016255 True uterine body mixed cancer uterine corpus mixed epithelial and mesenchymal neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0002880 MONDO:0005636 True ovarian adenosarcoma adenosarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002880 MONDO:0008170 True ovarian adenosarcoma ovarian cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0002881 MONDO:0001402 True vaginal adenosarcoma vaginal cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002880 MONDO:0008170 True ovarian adenosarcoma ovarian cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002881 MONDO:0001402 True vaginal adenosarcoma vaginal cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0002881 MONDO:0005636 True vaginal adenosarcoma adenosarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0002882 MONDO:0002883 True colon neuroendocrine neoplasm intestinal neuroendocrine neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0002882 MONDO:0005401 True colon neuroendocrine neoplasm colonic neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002883 MONDO:0021118 True intestinal neuroendocrine neoplasm intestinal neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002883 MONDO:0021118 True intestinal neuroendocrine neoplasm intestinal neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0002883 MONDO:0024503 True intestinal neuroendocrine neoplasm digestive system neuroendocrine neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002884 MONDO:0002051 True nail disorder integumentary system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0002885 MONDO:0002922 True erythrasma pyoderma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0002886 MONDO:0002887 True common bile duct disorder bile duct disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0002887 MONDO:0004868 True bile duct disorder biliary tract disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0002888 MONDO:0016642 True intraorbital meningioma meningioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002888 MONDO:0016642 True intraorbital meningioma meningioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0002888 MONDO:0024611 True intraorbital meningioma orbit neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0002889 MONDO:0024611 True orbital cancer orbit neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0002892 MONDO:0002785 True skull base chordoma skull base neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002892 MONDO:0008978 True skull base chordoma chordoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0002894 MONDO:0008978 True spinal chordoma chordoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0002896 MONDO:0005976 True primary syphilis syphilis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0002897 MONDO:0005976 True secondary syphilis syphilis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0002898 MONDO:0000653 True skin cancer integumentary system cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002892 MONDO:0008978 True skull base chordoma chordoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002894 MONDO:0008978 True spinal chordoma chordoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002896 MONDO:0005976 True primary syphilis syphilis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002897 MONDO:0005976 True secondary syphilis syphilis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0002898 MONDO:0002531 True skin cancer skin neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002899 MONDO:0005072 True differentiating neuroblastoma neuroblastoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0002900 MONDO:0002731 True cerebral neuroblastoma cerebral hemisphere cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002899 MONDO:0005072 True differentiating neuroblastoma neuroblastoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002900 MONDO:0002731 True cerebral neuroblastoma cerebral hemisphere cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0002900 MONDO:0005072 True cerebral neuroblastoma neuroblastoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002901 MONDO:0005570 True blood group incompatibility hematologic disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0002903 MONDO:0004730 True articulation disorder speech disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0002904 MONDO:0004730 True echolalia speech disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0002905 MONDO:0004730 True mutism speech disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0002907 MONDO:0000831 True intracranial thrombosis thrombotic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0002907 MONDO:0011057 True intracranial thrombosis cerebrovascular disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0002908 MONDO:0005066 True glucose metabolism disease metabolic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0002909 MONDO:0002908 True hyperglycemia glucose metabolism disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0002910 MONDO:0001397 True peroneal neuropathy mononeuropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0002911 MONDO:0002912 True brain stem glioma brainstem cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0002912 MONDO:0003107 True brainstem cancer infratentorial cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002903 MONDO:0004750 True articulation disorder language disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002908 MONDO:0005066 True glucose metabolism disease metabolic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002912 MONDO:0003107 True brainstem cancer infratentorial cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0002912 MONDO:0021228 True brainstem cancer brainstem neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002913 MONDO:0002427 True cerebellar neoplasm cerebellar disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0002913 MONDO:0021211 True cerebellar neoplasm brain neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002914 MONDO:0002912 True childhood brain stem neoplasm brainstem cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0002914 MONDO:0002915 True childhood brain stem neoplasm childhood infratentorial neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0002915 MONDO:0021079 True childhood infratentorial neoplasm childhood neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0002915 MONDO:0037736 True childhood infratentorial neoplasm infratentorial neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002916 MONDO:0002918 True brainstem intraparenchymal clear cell meningioma clear cell meningioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0002917 MONDO:0002051 True disorder of pilosebaceous unit integumentary system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0002918 MONDO:0016642 True clear cell meningioma meningioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0002919 MONDO:0016642 True posterior cranial fossa meningioma meningioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002916 MONDO:0002918 True brainstem intraparenchymal clear cell meningioma clear cell meningioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002918 MONDO:0016642 True clear cell meningioma meningioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002919 MONDO:0016642 True posterior cranial fossa meningioma meningioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0002920 MONDO:0002370 True malignant ovarian Brenner tumor ovarian Brenner tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002920 MONDO:0018364 True malignant ovarian Brenner tumor malignant epithelial tumor of ovary UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0002921 MONDO:0019952 True congenital structural myopathy congenital myopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0002922 MONDO:0005093 True pyoderma skin disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0002923 MONDO:0005210 True uterine corpus endometrial stromal sarcoma uterine corpus sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002920 MONDO:0018364 True malignant ovarian Brenner tumor malignant epithelial tumor of ovary UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002923 MONDO:0005210 True uterine corpus endometrial stromal sarcoma uterine corpus sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0002923 MONDO:0006745 True uterine corpus endometrial stromal sarcoma endometrioid stromal sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002924 MONDO:0005864 True smooth muscle cancer muscle cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002924 MONDO:0005864 True smooth muscle cancer muscle cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0002924 MONDO:0006975 True smooth muscle cancer smooth muscle tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0002926 MONDO:0018078 True clear cell sarcoma soft tissue sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002927 MONDO:0005089 True spindle cell sarcoma sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0002928 MONDO:0005853 True carcinosarcoma malignant mixed neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0002929 MONDO:0005275 True pulmonary immaturity lung disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0002930 MONDO:0002367 True kidney sarcoma kidney cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002927 MONDO:0005089 True spindle cell sarcoma sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002928 MONDO:0005853 True carcinosarcoma malignant mixed neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002930 MONDO:0002367 True kidney sarcoma kidney cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0002930 MONDO:0018078 True kidney sarcoma soft tissue sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002931 MONDO:0006170 True conjunctivochalasis conjunctival disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0002933 MONDO:0000833 True osteosclerosis bone remodeling disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0002934 MONDO:0006646 True intravascular angioleiomyoma angioleiomyoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0002935 MONDO:0005341 True penis basal cell carcinoma skin basal cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0002936 MONDO:0005341 True scrotum basal cell carcinoma skin basal cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0002937 MONDO:0005341 True nodular basal cell carcinoma skin basal cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0002938 MONDO:0005341 True metatypical basal cell carcinoma skin basal cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0002939 MONDO:0005341 True skin pigmented basal cell carcinoma skin basal cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0002940 MONDO:0005341 True anal margin basal cell carcinoma skin basal cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002934 MONDO:0006646 True intravascular angioleiomyoma angioleiomyoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002935 MONDO:0005341 True penis basal cell carcinoma skin basal cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002936 MONDO:0005341 True scrotum basal cell carcinoma skin basal cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002937 MONDO:0005341 True nodular basal cell carcinoma skin basal cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002938 MONDO:0005341 True metatypical basal cell carcinoma skin basal cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002939 MONDO:0005341 True skin pigmented basal cell carcinoma skin basal cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002940 MONDO:0005341 True anal margin basal cell carcinoma skin basal cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0002941 MONDO:0002656 True anal margin carcinoma skin carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002941 MONDO:0003199 True anal margin carcinoma anal carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0002942 MONDO:0005341 True sebaceous basal cell carcinoma skin basal cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0002943 MONDO:0005341 True external ear basal cell carcinoma skin basal cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002941 MONDO:0003199 True anal margin carcinoma anal carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002943 MONDO:0005341 True external ear basal cell carcinoma skin basal cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0002944 MONDO:0002038 True external ear carcinoma head and neck carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002944 MONDO:0003574 True external ear carcinoma external ear cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0002945 MONDO:0005341 True micronodular basal cell carcinoma skin basal cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0002946 MONDO:0002263 True gynatresia female reproductive system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0002947 MONDO:0005341 True adamantinoid basal cell epithelioma skin basal cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0002948 MONDO:0005341 True skin fibroepithelial basal cell carcinoma skin basal cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0002949 MONDO:0005341 True morpheaform basal cell carcinoma skin basal cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0002950 MONDO:0005341 True skin clear cell basal cell carcinoma skin basal cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0002951 MONDO:0005341 True skin adenoid basal cell carcinoma skin basal cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0002952 MONDO:0005341 True follicular basal cell carcinoma skin basal cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0002953 MONDO:0005341 True skin infiltrative basal cell carcinoma skin basal cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0002954 MONDO:0005341 True superficial multifocal basal cell carcinoma skin basal cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0002955 MONDO:0005341 True vulva basal cell carcinoma skin basal cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0002956 MONDO:0005341 True skin cystic basal cell carcinoma skin basal cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0002957 MONDO:0005341 True sarcomatoid basal cell carcinoma skin basal cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0002958 MONDO:0005341 True signet ring basal cell carcinoma skin basal cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0002959 MONDO:0003620 True radiculopathy peripheral nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0002961 MONDO:0002093 True large cell acanthoma acanthoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0002962 MONDO:0002093 True epidermolytic acanthoma acanthoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0002963 MONDO:0002093 True acantholytic acanthoma acanthoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002944 MONDO:0003574 True external ear carcinoma external ear cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002945 MONDO:0005341 True micronodular basal cell carcinoma skin basal cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002947 MONDO:0005341 True adamantinoid basal cell epithelioma skin basal cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002948 MONDO:0005341 True skin fibroepithelial basal cell carcinoma skin basal cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002949 MONDO:0005341 True morpheaform basal cell carcinoma skin basal cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002950 MONDO:0005341 True skin clear cell basal cell carcinoma skin basal cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002951 MONDO:0005341 True skin adenoid basal cell carcinoma skin basal cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002952 MONDO:0005341 True follicular basal cell carcinoma skin basal cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002953 MONDO:0005341 True skin infiltrative basal cell carcinoma skin basal cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002954 MONDO:0005341 True superficial multifocal basal cell carcinoma skin basal cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002955 MONDO:0005341 True vulva basal cell carcinoma skin basal cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002956 MONDO:0005341 True skin cystic basal cell carcinoma skin basal cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002957 MONDO:0005341 True sarcomatoid basal cell carcinoma skin basal cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002958 MONDO:0005341 True signet ring basal cell carcinoma skin basal cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002961 MONDO:0002093 True large cell acanthoma acanthoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002962 MONDO:0002093 True epidermolytic acanthoma acanthoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002963 MONDO:0002093 True acantholytic acanthoma acanthoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0002966 MONDO:0001023 True splenic manifestation of prolymphocytic leukemia prolymphocytic leukemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002966 MONDO:0004107 True splenic manifestation of prolymphocytic leukemia splenic manifestation of leukemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0002967 MONDO:0004678 True dermatophytosis of scalp or beard dermatophytosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0002968 MONDO:0005833 True lymphocele lymphatic system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0002969 MONDO:0002658 True ciliary body cancer iris cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002966 MONDO:0004107 True splenic manifestation of prolymphocytic leukemia splenic manifestation of leukemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002967 MONDO:0004678 True dermatophytosis of scalp or beard dermatophytosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0002969 MONDO:0021229 True ciliary body cancer ciliary body neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002970 MONDO:0002289 True ciliary body disorder iris disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0002971 MONDO:0005105 True amelanotic melanoma melanoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0002972 MONDO:0005843 True posterior mediastinum cancer mediastinal cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0002973 MONDO:0005105 True epithelioid cell melanoma melanoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0002974 MONDO:0002715 True cervical cancer uterine cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002971 MONDO:0005105 True amelanotic melanoma melanoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002973 MONDO:0005105 True epithelioid cell melanoma melanoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002974 MONDO:0002715 True cervical cancer uterine cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0002974 MONDO:0021230 True cervical cancer uterine cervix neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0002975 MONDO:0005105 True malignant breast melanoma melanoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002975 MONDO:0007254 True malignant breast melanoma breast cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0002976 MONDO:0004298 True stomach diverticulosis stomach disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0002977 MONDO:0005071 True autoimmune disorder of the nervous system nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0002977 MONDO:0007179 True autoimmune disorder of the nervous system autoimmune disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0002978 MONDO:0002580 True orbit alveolar rhabdomyosarcoma orbit rhabdomyosarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0002979 MONDO:0005096 True papillary squamous carcinoma squamous cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002975 MONDO:0007254 True malignant breast melanoma breast cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002977 MONDO:0005071 True autoimmune disorder of the nervous system nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002977 MONDO:0007179 True autoimmune disorder of the nervous system autoimmune disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002978 MONDO:0002580 True orbit alveolar rhabdomyosarcoma orbit rhabdomyosarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002979 MONDO:0005096 True papillary squamous carcinoma squamous cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0002979 MONDO:0006509 True papillary squamous carcinoma papillary carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002981 MONDO:0002129 True peripheral primitive neuroectodermal tumor of bone bone cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002981 MONDO:0002129 True peripheral primitive neuroectodermal tumor of bone bone cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0002981 MONDO:0018271 True peripheral primitive neuroectodermal tumor of bone peripheral primitive neuroectodermal tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0002981 MONDO:0021123 True peripheral primitive neuroectodermal tumor of bone Ewing sarcoma/peripheral primitive neuroectodermal tumor of bone UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0002982 MONDO:0018271 True peripheral primitive neuroectodermal tumor of soft tissues peripheral primitive neuroectodermal tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0002982 MONDO:0021039 True peripheral primitive neuroectodermal tumor of soft tissues extraskeletal Ewing sarcoma/peripheral primitive neuroectodermal tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002984 MONDO:0002637 True reticulohistiocytic granuloma histiocytosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0002987 MONDO:0002406 True spongiotic dermatitis dermatitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002987 MONDO:0002406 True spongiotic dermatitis dermatitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0002988 MONDO:0000544 True cervix melanoma mucosal melanoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002988 MONDO:0002974 True cervix melanoma cervical cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0002989 MONDO:0005509 True benign fibrous histiocytoma histiocytoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002988 MONDO:0002974 True cervix melanoma cervical cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002989 MONDO:0005509 True benign fibrous histiocytoma histiocytoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0002990 MONDO:0002989 True benign deep fibrous histiocytoma benign fibrous histiocytoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0002991 MONDO:0001416 True adenocarcinofibroma female reproductive organ cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002991 MONDO:0005853 True adenocarcinofibroma malignant mixed neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002991 MONDO:0005853 True adenocarcinofibroma malignant mixed neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0002993 MONDO:0002994 True pancreatic somatostatinoma pancreatic delta cell neuroendocrine tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0002994 MONDO:0005626 True pancreatic delta cell neuroendocrine tumor epithelial neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0002994 MONDO:0019954 True pancreatic delta cell neuroendocrine tumor pancreatic neuroendocrine tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0002995 MONDO:0000386 True small intestine neuroendocrine tumor, well differentiated, low or intermediate grade digestive system neuroendocrine tumor, grade 1/2 UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0002995 MONDO:0018510 True small intestine neuroendocrine tumor, well differentiated, low or intermediate grade small intestine neuroendocrine neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0002996 MONDO:0002998 True cavernous sinus meningioma skull base meningioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002997 MONDO:0016642 True anterior cranial fossa meningioma meningioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0002998 MONDO:0002785 True skull base meningioma skull base neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002997 MONDO:0016642 True anterior cranial fossa meningioma meningioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002998 MONDO:0002785 True skull base meningioma skull base neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0002998 MONDO:0016642 True skull base meningioma meningioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002999 MONDO:0002714 True central nervous system germinoma central nervous system cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0002999 MONDO:0003000 True central nervous system germinoma central nervous system germ cell tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002999 MONDO:0002714 True central nervous system germinoma central nervous system cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002999 MONDO:0003000 True central nervous system germinoma central nervous system germ cell tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003000 MONDO:0006130 True central nervous system germ cell tumor central nervous system neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0003000 MONDO:0018201 True central nervous system germ cell tumor extragonadal germ cell tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0003001 MONDO:0006290 True seminoma malignant germ cell tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0003001 MONDO:0020580 True seminoma germinomatous germ cell tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0003003 MONDO:0011655 True cervical alveolar soft part sarcoma alveolar soft part sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003004 MONDO:0004580 True macular degeneration retinal degeneration UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0003005 MONDO:0004037 True macular retinal edema retinal edema UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003004 MONDO:0004580 True macular degeneration retinal degeneration UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003007 MONDO:0005549 True childhood kidney cell carcinoma renal cell adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0003007 MONDO:0036511 True childhood kidney cell carcinoma childhood malignant kidney neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0003008 MONDO:0005549 True hereditary renal cell carcinoma renal cell adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003009 MONDO:0006640 True hyperaldosteronism adrenal gland hyperfunction UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0003010 MONDO:0005005 True multilocular clear cell renal cell carcinoma clear cell renal carcinoma UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003011 MONDO:0005086 True mucinous tubular and spindle renal cell carcinoma renal cell carcinoma UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0003012 MONDO:0005549 True sarcomatoid renal cell carcinoma renal cell adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0003012 MONDO:0006406 True sarcomatoid renal cell carcinoma sarcomatoid carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003014 MONDO:0002232 True rhinitis nasal cavity disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0003017 MONDO:0002087 True malignant peritoneal solitary fibrous tumor peritoneum cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0003021 MONDO:0002217 True central nervous system angiosarcoma central nervous system sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003014 MONDO:0002232 True rhinitis nasal cavity disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003019 MONDO:0005137 True potassium deficiency disease nutritional disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003021 MONDO:0002217 True central nervous system angiosarcoma central nervous system sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003021 MONDO:0016982 True central nervous system angiosarcoma angiosarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003022 MONDO:0006517 True pediatric angiosarcoma childhood malignant neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003022 MONDO:0016982 True pediatric angiosarcoma angiosarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0003023 MONDO:0016982 True aorta angiosarcoma angiosarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0003024 MONDO:0002490 True breast angiosarcoma breast sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003022 MONDO:0016982 True pediatric angiosarcoma angiosarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003023 MONDO:0016982 True aorta angiosarcoma angiosarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003024 MONDO:0002490 True breast angiosarcoma breast sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003024 MONDO:0016982 True breast angiosarcoma angiosarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003025 MONDO:0016982 True conventional angiosarcoma angiosarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003025 MONDO:0016982 True conventional angiosarcoma angiosarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003026 MONDO:0002857 True gallbladder angiosarcoma gallbladder sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003026 MONDO:0016982 True gallbladder angiosarcoma angiosarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0003027 MONDO:0003028 True thyroid gland angiosarcoma thyroid sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003026 MONDO:0016982 True gallbladder angiosarcoma angiosarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003027 MONDO:0003028 True thyroid gland angiosarcoma thyroid sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003027 MONDO:0016982 True thyroid gland angiosarcoma angiosarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003028 MONDO:0002108 True thyroid sarcoma thyroid cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003028 MONDO:0002108 True thyroid sarcoma thyroid cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003028 MONDO:0018078 True thyroid sarcoma soft tissue sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003029 MONDO:0006414 True skin angiosarcoma skin sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003029 MONDO:0006414 True skin angiosarcoma skin sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003029 MONDO:0016982 True skin angiosarcoma angiosarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003030 MONDO:0003031 True endometrioid stromal sarcoma of the cervix endometrioid stromal and related neoplasms of the cervix UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0003031 MONDO:0021148 True endometrioid stromal and related neoplasms of the cervix female reproductive system neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003032 MONDO:0004634 True superior vena cava angiosarcoma vein disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0003032 MONDO:0016982 True superior vena cava angiosarcoma angiosarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0003033 MONDO:0002854 True prostate angiosarcoma prostate sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003032 MONDO:0016982 True superior vena cava angiosarcoma angiosarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003033 MONDO:0002854 True prostate angiosarcoma prostate sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003033 MONDO:0016982 True prostate angiosarcoma angiosarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003034 MONDO:0002852 True mediastinum angiosarcoma mediastinum sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003034 MONDO:0016982 True mediastinum angiosarcoma angiosarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003034 MONDO:0016982 True mediastinum angiosarcoma angiosarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003035 MONDO:0002225 True ovarian angiosarcoma ovarian sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003035 MONDO:0016982 True ovarian angiosarcoma angiosarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0003037 MONDO:0002917 True hypotrichosis disorder of pilosebaceous unit UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0003038 MONDO:0000599 True dysgraphia writing disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0003039 MONDO:0000598 True nominal aphasia aphasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0003040 MONDO:0001152 True retrograde amnesia amnestic disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003035 MONDO:0016982 True ovarian angiosarcoma angiosarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003037 MONDO:0002917 True hypotrichosis disorder of pilosebaceous unit UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003041 MONDO:0006517 True pediatric mesenchymal chondrosarcoma childhood malignant neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003041 MONDO:0006853 True pediatric mesenchymal chondrosarcoma mesenchymal chondrosarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0003042 MONDO:0006853 True adult mesenchymal chondrosarcoma mesenchymal chondrosarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0003045 MONDO:0003046 True anal gland neoplasm anus neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0003046 MONDO:0002519 True anus neoplasm anus disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003041 MONDO:0006853 True pediatric mesenchymal chondrosarcoma mesenchymal chondrosarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003042 MONDO:0006853 True adult mesenchymal chondrosarcoma mesenchymal chondrosarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003046 MONDO:0002519 True anus neoplasm anus disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003047 MONDO:0005057 True thymic large cell neuroendocrine carcinoma large cell neuroendocrine carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003047 MONDO:0020516 True thymic large cell neuroendocrine carcinoma thymic neuroendocrine carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0003049 MONDO:0002481 True ovarian large-cell neuroendocrine carcinoma ovarian neuroendocrine neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003049 MONDO:0005057 True ovarian large-cell neuroendocrine carcinoma large cell neuroendocrine carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003049 MONDO:0005140 True ovarian large-cell neuroendocrine carcinoma ovarian carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003049 MONDO:0005140 True ovarian large-cell neuroendocrine carcinoma ovarian carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003050 MONDO:0005232 True lung large cell carcinoma large cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003050 MONDO:0005233 True lung large cell carcinoma non-small cell lung carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0003053 MONDO:0002681 True choroid plexus meningioma choroid plexus cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003050 MONDO:0005233 True lung large cell carcinoma non-small cell lung carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003051 MONDO:0024279 True non specific chronic endometritis chronic endometritis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0003052 MONDO:0024279 True granulomatous endometritis chronic endometritis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0003054 MONDO:0016642 True benign meningioma meningioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003054 MONDO:0021527 True benign meningioma benign neoplasm of meninges UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003055 MONDO:0016642 True secretory meningioma meningioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0003056 MONDO:0016642 True lymphoplasmacyte-rich meningioma meningioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0003057 MONDO:0016642 True pediatric meningioma meningioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003055 MONDO:0016642 True secretory meningioma meningioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003056 MONDO:0016642 True lymphoplasmacyte-rich meningioma meningioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003057 MONDO:0016642 True pediatric meningioma meningioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003057 MONDO:0021079 True pediatric meningioma childhood neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003058 MONDO:0016642 True microcystic meningioma meningioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0003059 MONDO:0003060 True bile duct cancer biliary tract cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0003061 MONDO:0000636 True benign muscle neoplasm musculoskeletal system benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003058 MONDO:0016642 True microcystic meningioma meningioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003061 MONDO:0021545 True benign muscle neoplasm myomatous neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0003062 MONDO:0000385 True intestinal benign neoplasm benign digestive system neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0003062 MONDO:0021118 True intestinal benign neoplasm intestinal neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0003064 MONDO:0002537 True inverted transitional cell papilloma inverted papilloma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003064 MONDO:0005605 True inverted transitional cell papilloma transitional cell papilloma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0003065 MONDO:0004756 True nasal cavity inverting papilloma nasal cavity neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0003066 MONDO:0003067 True submandibular adenitis cervical lymphadenitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0003067 MONDO:0002052 True cervical lymphadenitis lymphadenitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0003068 MONDO:0002052 True postauricular lymphadenitis lymphadenitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0003069 MONDO:0002052 True suppurative lymphadenitis lymphadenitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0003070 MONDO:0002052 True axillary lymphadenitis lymphadenitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0003072 MONDO:0002236 True retinal cancer ocular cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003064 MONDO:0005605 True inverted transitional cell papilloma transitional cell papilloma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003065 MONDO:0004756 True nasal cavity inverting papilloma nasal cavity neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003067 MONDO:0002052 True cervical lymphadenitis lymphadenitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003068 MONDO:0002052 True postauricular lymphadenitis lymphadenitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003069 MONDO:0002052 True suppurative lymphadenitis lymphadenitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003070 MONDO:0002052 True axillary lymphadenitis lymphadenitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003072 MONDO:0002236 True retinal cancer ocular cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003072 MONDO:0021231 True retinal cancer retina neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003073 MONDO:0008380 True trilateral retinoblastoma retinoblastoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0003075 MONDO:0008380 True bilateral retinoblastoma retinoblastoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0003076 MONDO:0008380 True unilateral retinoblastoma retinoblastoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0003077 MONDO:0008380 True intraocular retinoblastoma retinoblastoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0003078 MONDO:0008380 True extraocular retinoblastoma retinoblastoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003073 MONDO:0008380 True trilateral retinoblastoma retinoblastoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003075 MONDO:0008380 True bilateral retinoblastoma retinoblastoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003076 MONDO:0008380 True unilateral retinoblastoma retinoblastoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003077 MONDO:0008380 True intraocular retinoblastoma retinoblastoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003078 MONDO:0008380 True extraocular retinoblastoma retinoblastoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003079 MONDO:0002724 True mastocytoma mast cell neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003081 MONDO:0005560 True thalamic disorder brain disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0003082 MONDO:0003085 True filamentary keratitis keratitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0003083 MONDO:0006500 True venous hemangioma hemangioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0003084 MONDO:0007008 True uremic neuropathy uremia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0003085 MONDO:0000942 True keratitis corneal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0003086 MONDO:0003036 True thymic mucoepidermoid carcinoma mucoepidermoid carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003081 MONDO:0005560 True thalamic disorder brain disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003083 MONDO:0006500 True venous hemangioma hemangioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003084 MONDO:0005244 True uremic neuropathy peripheral neuropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003085 MONDO:0000942 True keratitis corneal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003086 MONDO:0003036 True thymic mucoepidermoid carcinoma mucoepidermoid carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003087 MONDO:0003036 True mucoepidermoid breast carcinoma mucoepidermoid carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003087 MONDO:0006256 True mucoepidermoid breast carcinoma invasive breast carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0003088 MONDO:0003096 True intramuscular hemangioma deep hemangioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003089 MONDO:0003036 True extrahepatic bile duct mucoepidermoid carcinoma mucoepidermoid carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0003090 MONDO:0005496 True extrahepatic bile duct carcinoma bile duct carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003089 MONDO:0003036 True extrahepatic bile duct mucoepidermoid carcinoma mucoepidermoid carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003090 MONDO:0005496 True extrahepatic bile duct carcinoma bile duct carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003090 MONDO:0021321 True extrahepatic bile duct carcinoma malignant tumor of extrahepatic bile duct UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003091 MONDO:0002656 True cutaneous mucoepidermoid carcinoma skin carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003091 MONDO:0002656 True cutaneous mucoepidermoid carcinoma skin carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003091 MONDO:0003036 True cutaneous mucoepidermoid carcinoma mucoepidermoid carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003092 MONDO:0003036 True lacrimal gland mucoepidermoid carcinoma mucoepidermoid carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003092 MONDO:0003036 True lacrimal gland mucoepidermoid carcinoma mucoepidermoid carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003093 MONDO:0003036 True mucoepidermoid esophageal carcinoma mucoepidermoid carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003095 MONDO:0002358 True laryngeal mucoepidermoid carcinoma laryngeal carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003095 MONDO:0003036 True laryngeal mucoepidermoid carcinoma mucoepidermoid carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0003096 MONDO:0006500 True deep hemangioma hemangioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0003097 MONDO:0003098 True childhood mediastinal neurogenic neoplasm mediastinal neural neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003095 MONDO:0003036 True laryngeal mucoepidermoid carcinoma mucoepidermoid carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003096 MONDO:0006500 True deep hemangioma hemangioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003097 MONDO:0003098 True childhood mediastinal neurogenic neoplasm mediastinal neural neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003097 MONDO:0021079 True childhood mediastinal neurogenic neoplasm childhood neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0003098 MONDO:0021386 True mediastinal neural neoplasm neoplasm of mediastinum UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003100 MONDO:0001406 True nerve plexus neoplasm peripheral nervous system neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0003103 MONDO:0001406 True nerve root neoplasm peripheral nervous system neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0003104 MONDO:0001322 True epicardium cancer pericardium cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003100 MONDO:0001406 True nerve plexus neoplasm peripheral nervous system neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003104 MONDO:0021379 True epicardium cancer neoplasm of epicardium UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003105 MONDO:0003150 True prostate disorder male reproductive system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0003107 MONDO:0001657 True infratentorial cancer brain cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003105 MONDO:0003150 True prostate disorder male reproductive system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003107 MONDO:0001657 True infratentorial cancer brain cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003108 MONDO:0021234 True cervicomedullary junction neoplasm spinal cord neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003109 MONDO:0002998 True foramen magnum meningioma skull base meningioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0003110 MONDO:0006500 True skin hemangioma hemangioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003109 MONDO:0002998 True foramen magnum meningioma skull base meningioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003110 MONDO:0006500 True skin hemangioma hemangioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003111 MONDO:0021085 True gastric neuroendocrine neoplasm gastric neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003111 MONDO:0024503 True gastric neuroendocrine neoplasm digestive system neuroendocrine neoplasm UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003112 MONDO:0001056 True malignant gastric germ cell tumor gastric cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003111 MONDO:0024503 True gastric neuroendocrine neoplasm digestive system neuroendocrine neoplasm UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0003112 MONDO:0001056 True malignant gastric germ cell tumor gastric cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003112 MONDO:0003113 True malignant gastric germ cell tumor extragonadal germ cell cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003113 MONDO:0006290 True extragonadal germ cell cancer malignant germ cell tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0003113 MONDO:0018201 True extragonadal germ cell cancer extragonadal germ cell tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003115 MONDO:0006500 True subglottic hemangioma hemangioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003115 MONDO:0006500 True subglottic hemangioma hemangioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003115 MONDO:0021530 True subglottic hemangioma benign neoplasm of subglottis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003117 MONDO:0002025 True somatoform disorder psychiatric disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003117 MONDO:0002025 True somatoform disorder psychiatric disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003118 MONDO:0021348 True testicular Brenner tumor neoplasm of testis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0003118 MONDO:0024235 True testicular Brenner tumor Brenner tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003120 MONDO:0003510 True mixed testicular germ cell cancer malignant testicular germ cell tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003120 MONDO:0003510 True mixed testicular germ cell cancer malignant testicular germ cell tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003120 MONDO:0015864 True mixed testicular germ cell cancer mixed germ cell tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003121 MONDO:0016642 True middle cranial fossa meningioma meningioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0003122 MONDO:0007803 True striatonigral degeneration multiple system atrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0003124 MONDO:0003125 True testicular Leydig cell tumor testicular sex cord-stromal neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003121 MONDO:0016642 True middle cranial fossa meningioma meningioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003122 MONDO:0007803 True striatonigral degeneration multiple system atrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003124 MONDO:0003125 True testicular Leydig cell tumor testicular sex cord-stromal neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003124 MONDO:0006266 True testicular Leydig cell tumor Leydig cell tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003125 MONDO:0006055 True testicular sex cord-stromal neoplasm sex cord-stromal tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003125 MONDO:0006055 True testicular sex cord-stromal neoplasm sex cord-stromal tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003125 MONDO:0021348 True testicular sex cord-stromal neoplasm neoplasm of testis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003126 MONDO:0000620 True breast hemangioma breast benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003126 MONDO:0000620 True breast hemangioma breast benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003126 MONDO:0006500 True breast hemangioma hemangioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003128 MONDO:0005933 True classic pulmonary blastoma pulmonary blastoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0003129 MONDO:0005933 True epithelial predominant pulmonary blastoma pulmonary blastoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0003133 MONDO:0002462 True exudative glomerulonephritis glomerulonephritis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0003134 MONDO:0002462 True proliferative glomerulonephritis glomerulonephritis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0003135 MONDO:0002462 True focal embolic glomerulonephritis glomerulonephritis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0003137 MONDO:0002462 True diffuse glomerulonephritis glomerulonephritis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0003138 MONDO:0002462 True subacute glomerulonephritis glomerulonephritis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0003139 MONDO:0002462 True mesangial proliferative glomerulonephritis glomerulonephritis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0003140 MONDO:0002462 True immune-complex glomerulonephritis glomerulonephritis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0003141 MONDO:0002553 True cerebellopontine angle embryonal tumor cerebellopontine angle tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0003141 MONDO:0003107 True cerebellopontine angle embryonal tumor infratentorial cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0003142 MONDO:0000640 True intracranial primitive neuroectodermal tumor central nervous system primitive neuroectodermal neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0003142 MONDO:0001657 True intracranial primitive neuroectodermal tumor brain cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0003143 MONDO:0003110 True angiokeratoma skin hemangioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0003144 MONDO:0016713 True medulloepithelioma central nervous system Ewing sarcoma/peripheral primitive neuroectodermal tumor UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003145 MONDO:0002071 True supratentorial primitive neuroectodermal tumor supratentorial cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0003147 MONDO:0008015 True space motion sickness motion sickness UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0003150 MONDO:0005039 True male reproductive system disorder reproductive system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0003152 MONDO:0003153 True adult brainstem gliosarcoma adult brainstem glioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0003153 MONDO:0002911 True adult brainstem glioma brain stem glioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003133 MONDO:0002462 True exudative glomerulonephritis glomerulonephritis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003134 MONDO:0002462 True proliferative glomerulonephritis glomerulonephritis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003135 MONDO:0002462 True focal embolic glomerulonephritis glomerulonephritis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003136 MONDO:0002462 True anti-basement membrane glomerulonephritis glomerulonephritis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003137 MONDO:0002462 True diffuse glomerulonephritis glomerulonephritis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003138 MONDO:0002462 True subacute glomerulonephritis glomerulonephritis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003139 MONDO:0002462 True mesangial proliferative glomerulonephritis glomerulonephritis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003140 MONDO:0002462 True immune-complex glomerulonephritis glomerulonephritis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003141 MONDO:0002553 True cerebellopontine angle embryonal tumor cerebellopontine angle tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003141 MONDO:0003107 True cerebellopontine angle embryonal tumor infratentorial cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003142 MONDO:0000640 True intracranial primitive neuroectodermal tumor central nervous system primitive neuroectodermal neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003142 MONDO:0001657 True intracranial primitive neuroectodermal tumor brain cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003145 MONDO:0002071 True supratentorial primitive neuroectodermal tumor supratentorial cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003150 MONDO:0005039 True male reproductive system disorder reproductive system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003152 MONDO:0003153 True adult brainstem gliosarcoma adult brainstem glioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003153 MONDO:0002911 True adult brainstem glioma brain stem glioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003153 MONDO:0024797 True adult brainstem glioma adult brain stem neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003154 MONDO:0056804 True hemangioma of peripheral nerve benign neoplasm of peripheral nervous system UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0003155 MONDO:0003159 True cavernous hemangioma vascular hemostatic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0003155 MONDO:0006500 True cavernous hemangioma hemangioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003157 MONDO:0002254 True disappearing bone disease syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0003158 MONDO:0002380 True malignant myoepithelioma myoepithelial tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003158 MONDO:0004993 True malignant myoepithelioma carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0003159 MONDO:0002243 True vascular hemostatic disease hemorrhagic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0003163 MONDO:0003164 True cauda equina intradural extramedullary astrocytoma cauda equina neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003158 MONDO:0004993 True malignant myoepithelioma carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003163 MONDO:0003164 True cauda equina intradural extramedullary astrocytoma cauda equina neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003163 MONDO:0019781 True cauda equina intradural extramedullary astrocytoma astrocytoma (excluding glioblastoma) UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0003164 MONDO:0003103 True cauda equina neoplasm nerve root neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003165 MONDO:0002913 True cerebellar astrocytoma cerebellar neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003165 MONDO:0002913 True cerebellar astrocytoma cerebellar neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003165 MONDO:0021631 True cerebellar astrocytoma brain astrocytoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003168 MONDO:0003165 True cerebellar pilocytic astrocytoma cerebellar astrocytoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003168 MONDO:0003165 True cerebellar pilocytic astrocytoma cerebellar astrocytoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003168 MONDO:0016691 True cerebellar pilocytic astrocytoma pilocytic astrocytoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003168 MONDO:0021499 True cerebellar pilocytic astrocytoma benign neoplasm of cerebellum UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003169 MONDO:0002786 True diencephalic astrocytomas diencephalic cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0003169 MONDO:0021631 True diencephalic astrocytomas brain astrocytoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003170 MONDO:0021636 True gliofibroma astrocytic tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0003171 MONDO:0003249 True pineal gland astrocytoma pineal gland cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0003172 MONDO:0006500 True glomeruloid hemangioma hemangioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0003173 MONDO:0002911 True brain stem astrocytic neoplasm brain stem glioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003170 MONDO:0021636 True gliofibroma astrocytic tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003172 MONDO:0006500 True glomeruloid hemangioma hemangioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003173 MONDO:0002911 True brain stem astrocytic neoplasm brain stem glioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003173 MONDO:0021631 True brain stem astrocytic neoplasm brain astrocytoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003174 MONDO:0002542 True spinal cord astrocytoma spinal cord glioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003174 MONDO:0002542 True spinal cord astrocytoma spinal cord glioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003174 MONDO:0019781 True spinal cord astrocytoma astrocytoma (excluding glioblastoma) UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003175 MONDO:0000521 True salivary gland adenoid cystic carcinoma salivary gland carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003175 MONDO:0000521 True salivary gland adenoid cystic carcinoma salivary gland carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003175 MONDO:0004971 True salivary gland adenoid cystic carcinoma adenoid cystic carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003177 MONDO:0004971 True prostate adenoid cystic carcinoma adenoid cystic carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003180 MONDO:0004971 True cutaneous adenocystic carcinoma adenoid cystic carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003180 MONDO:0005524 True cutaneous adenocystic carcinoma sweat gland carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003181 MONDO:0004971 True lung adenoid cystic carcinoma adenoid cystic carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003184 MONDO:0001407 True trachea carcinoma tracheal cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0003184 MONDO:0004993 True trachea carcinoma carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003184 MONDO:0001407 True trachea carcinoma tracheal cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003184 MONDO:0004993 True trachea carcinoma carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003185 MONDO:0004971 True adenoid cystic breast carcinoma adenoid cystic carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003185 MONDO:0006256 True adenoid cystic breast carcinoma invasive breast carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0003186 MONDO:0004971 True esophageal adenoid cystic carcinoma adenoid cystic carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003187 MONDO:0004971 True Bartholin gland adenoid cystic carcinoma adenoid cystic carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003189 MONDO:0003190 True middle ear adenocarcinoma middle ear carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0003189 MONDO:0004970 True middle ear adenocarcinoma adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003189 MONDO:0003190 True middle ear adenocarcinoma middle ear carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003189 MONDO:0004970 True middle ear adenocarcinoma adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003190 MONDO:0002038 True middle ear carcinoma head and neck carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003190 MONDO:0003275 True middle ear carcinoma middle ear cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0003191 MONDO:0002752 True rete ovarii adenocarcinoma ovarian adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003190 MONDO:0003275 True middle ear carcinoma middle ear cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003191 MONDO:0003192 True rete ovarii adenocarcinoma rete ovarii neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003193 MONDO:0004970 True bile duct adenocarcinoma adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0003193 MONDO:0005496 True bile duct adenocarcinoma bile duct carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0003194 MONDO:0002732 True hemangioma of lung lung benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0003194 MONDO:0006500 True hemangioma of lung hemangioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0003195 MONDO:0002113 True peritoneal serous adenocarcinoma peritoneal carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0003196 MONDO:0001235 True appendix carcinoma appendix cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003193 MONDO:0004970 True bile duct adenocarcinoma adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003193 MONDO:0005496 True bile duct adenocarcinoma bile duct carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003196 MONDO:0001235 True appendix carcinoma appendix cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003197 MONDO:0004970 True granular cell carcinoma adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003198 MONDO:0004970 True small intestine adenocarcinoma adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0003198 MONDO:0005522 True small intestine adenocarcinoma small intestine carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0003199 MONDO:0001879 True anal carcinoma anus cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0003200 MONDO:0004970 True urethra adenocarcinoma adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003198 MONDO:0004970 True small intestine adenocarcinoma adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003198 MONDO:0005522 True small intestine adenocarcinoma small intestine carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003199 MONDO:0001879 True anal carcinoma anus cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003200 MONDO:0004970 True urethra adenocarcinoma adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003200 MONDO:0021327 True urethra adenocarcinoma carcinoma of urethra UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003202 MONDO:0017582 True pituitary gland basophilic carcinoma pituitary adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0003204 MONDO:0004970 True villous adenocarcinoma adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0003205 MONDO:0005519 True renal pelvis adenocarcinoma renal pelvis carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0003206 MONDO:0006500 True acquired hemangioma hemangioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0003209 MONDO:0004970 True thymus gland adenocarcinoma adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0003209 MONDO:0006451 True thymus gland adenocarcinoma thymic carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0003210 MONDO:0019087 True intrahepatic cholangiocarcinoma cholangiocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0003211 MONDO:0003212 True nasal cavity adenocarcinoma nasal cavity carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0003211 MONDO:0004970 True nasal cavity adenocarcinoma adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0003212 MONDO:0001128 True nasal cavity carcinoma nasal cavity cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003204 MONDO:0004970 True villous adenocarcinoma adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003205 MONDO:0005519 True renal pelvis adenocarcinoma renal pelvis carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003206 MONDO:0006500 True acquired hemangioma hemangioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003209 MONDO:0004970 True thymus gland adenocarcinoma adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003209 MONDO:0006451 True thymus gland adenocarcinoma thymic carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003210 MONDO:0019087 True intrahepatic cholangiocarcinoma cholangiocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003211 MONDO:0003212 True nasal cavity adenocarcinoma nasal cavity carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003211 MONDO:0004970 True nasal cavity adenocarcinoma adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003212 MONDO:0001128 True nasal cavity carcinoma nasal cavity cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003212 MONDO:0002038 True nasal cavity carcinoma head and neck carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003214 MONDO:0003215 True apocrine adenocarcinoma apocrine sweat gland cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003214 MONDO:0003215 True apocrine adenocarcinoma apocrine sweat gland cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003214 MONDO:0005524 True apocrine adenocarcinoma sweat gland carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003215 MONDO:0002206 True apocrine sweat gland cancer sweat gland cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003215 MONDO:0002206 True apocrine sweat gland cancer sweat gland cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003215 MONDO:0003686 True apocrine sweat gland cancer apocrine sweat gland neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003216 MONDO:0004970 True ureter adenocarcinoma adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0003216 MONDO:0006481 True ureter adenocarcinoma ureter carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0003218 MONDO:0004647 True adenocarcinoma in situ in situ carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003216 MONDO:0004970 True ureter adenocarcinoma adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003216 MONDO:0006481 True ureter adenocarcinoma ureter carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003218 MONDO:0004647 True adenocarcinoma in situ in situ carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003218 MONDO:0004970 True adenocarcinoma in situ adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003219 MONDO:0004970 True gastroesophageal junction adenocarcinoma adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003219 MONDO:0004970 True gastroesophageal junction adenocarcinoma adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003219 MONDO:0006181 True gastroesophageal junction adenocarcinoma digestive system carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003220 MONDO:0005411 True gallbladder carcinoma gallbladder cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003220 MONDO:0005411 True gallbladder carcinoma gallbladder cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003220 MONDO:0006181 True gallbladder carcinoma digestive system carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003222 MONDO:0002714 True central nervous system melanocytic neoplasm central nervous system cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0003222 MONDO:0021143 True central nervous system melanocytic neoplasm melanocytic neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003223 MONDO:0005094 True meninges hemangiopericytoma hemangiopericytoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0003225 MONDO:0005570 True bone marrow disorder hematologic disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0003227 MONDO:0005638 True prosopagnosia agnosia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0003231 MONDO:0017373 True acute nonparalytic poliomyelitis poliomyelitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0003232 MONDO:0004982 True alcoholic pancreatitis pancreatitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0003233 MONDO:0005395 True essential tremor movement disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0003234 MONDO:0002433 True optic nerve astrocytoma malignant cranial nerve neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0003234 MONDO:0003235 True optic nerve astrocytoma optic nerve glioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003234 MONDO:0003235 True optic nerve astrocytoma optic nerve glioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003234 MONDO:0024649 True optic nerve astrocytoma optic tract astrocytoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003235 MONDO:0002640 True optic nerve glioma optic nerve neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003235 MONDO:0002640 True optic nerve glioma optic nerve neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003235 MONDO:0016167 True optic nerve glioma optic pathway glioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003236 MONDO:0005635 True atypical polypoid adenomyoma adenomyoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003236 MONDO:0005635 True atypical polypoid adenomyoma adenomyoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003237 MONDO:0005635 True adenomyoma of uterine corpus adenomyoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003237 MONDO:0021525 True adenomyoma of uterine corpus benign neoplasm of corpus uteri UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0003238 MONDO:0005635 True cervical adenomyoma adenomyoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003240 MONDO:0005151 True thyroid gland disorder endocrine system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0003241 MONDO:0000628 True central nervous system hemangioma central nervous system organ benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0003241 MONDO:0006500 True central nervous system hemangioma hemangioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003241 MONDO:0006500 True central nervous system hemangioma hemangioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003243 MONDO:0005004 True hepatocellular clear cell carcinoma clear cell adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003243 MONDO:0007256 True hepatocellular clear cell carcinoma hepatocellular carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003243 MONDO:0007256 True hepatocellular clear cell carcinoma hepatocellular carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003244 MONDO:0006424 True central nervous system mesenchymal non-meningothelial tumor soft tissue neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003245 MONDO:0007256 True aflatoxin-related hepatocellular carcinoma hepatocellular carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0003246 MONDO:0007256 True sclerosing hepatic carcinoma hepatocellular carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003245 MONDO:0007256 True aflatoxin-related hepatocellular carcinoma hepatocellular carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003246 MONDO:0007256 True sclerosing hepatic carcinoma hepatocellular carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003248 MONDO:0024890 True adult pineal parenchymal tumor pineal parenchymal cell neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003249 MONDO:0021069 True pineal gland cancer malignant endocrine neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0003249 MONDO:0021232 True pineal gland cancer pineal body neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0003250 MONDO:0006235 True benign granular cell tumor granular cell tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003251 MONDO:0006235 True esophageal granular cell tumor granular cell tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS @@ -2861,888 +1788,791 @@ MONDO:0003253 MONDO:0006235 True vulvar granular cell tumor granular cell tumor MONDO:0003253 MONDO:0021049 True vulvar granular cell tumor vulvar neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0003255 MONDO:0006235 True mediastinal granular cell myoblastoma granular cell tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003255 MONDO:0021386 True mediastinal granular cell myoblastoma neoplasm of mediastinum UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003256 MONDO:0003257 True neurohypophysis granular cell tumor posterior pituitary gland neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003256 MONDO:0003257 True neurohypophysis granular cell tumor posterior pituitary gland neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003256 MONDO:0006235 True neurohypophysis granular cell tumor granular cell tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003257 MONDO:0017611 True posterior pituitary gland neoplasm pituitary tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003258 MONDO:0006500 True hobnail hemangioma hemangioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0003260 MONDO:0002913 True adult cerebellar neoplasm cerebellar neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0003261 MONDO:0000642 True papillary meningioma of the cerebellum brain meningioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0003261 MONDO:0002913 True papillary meningioma of the cerebellum cerebellar neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003258 MONDO:0006500 True hobnail hemangioma hemangioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003260 MONDO:0002913 True adult cerebellar neoplasm cerebellar neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003261 MONDO:0002913 True papillary meningioma of the cerebellum cerebellar neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003261 MONDO:0021088 True papillary meningioma of the cerebellum papillary meningioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003262 MONDO:0016642 True rhabdoid meningioma meningioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0003263 MONDO:0002913 True childhood cerebellar neoplasm cerebellar neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003262 MONDO:0016642 True rhabdoid meningioma meningioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003263 MONDO:0002913 True childhood cerebellar neoplasm cerebellar neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003263 MONDO:0002915 True childhood cerebellar neoplasm childhood infratentorial neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003264 MONDO:0005341 True basosquamous carcinoma skin basal cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0003266 MONDO:0021042 True ependymal tumor glioma UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0003264 MONDO:0005341 True basosquamous carcinoma skin basal cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003266 MONDO:0021042 True ependymal tumor glioma UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0003268 MONDO:0021042 True mixed glioma glioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0003268 MONDO:0021043 True mixed glioma mixed neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003271 MONDO:0005420 True iodine hypothyroidism hypothyroidism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0003273 MONDO:0002129 True sternum cancer bone cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0003273 MONDO:0003274 True sternum cancer thoracic cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003273 MONDO:0021578 True sternum cancer sternal neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003274 MONDO:0004992 True thoracic cancer cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003274 MONDO:0004992 True thoracic cancer cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003274 MONDO:0021350 True thoracic cancer neoplasm of thorax UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003275 MONDO:0003277 True middle ear cancer malignant ear neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0003275 MONDO:0004532 True middle ear cancer auditory system cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003275 MONDO:0003277 True middle ear cancer malignant ear neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003275 MONDO:0021366 True middle ear cancer neoplasm of middle ear UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003276 MONDO:0002409 True middle ear disorder auditory system disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0003277 MONDO:0000649 True malignant ear neoplasm sensory system cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003276 MONDO:0002409 True middle ear disorder auditory system disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003276 MONDO:0021205 True middle ear disorder disorder of ear UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0003277 MONDO:0005627 True malignant ear neoplasm head and neck cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003277 MONDO:0021233 True malignant ear neoplasm ear neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003278 MONDO:0003277 True inner ear cancer malignant ear neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0003278 MONDO:0004532 True inner ear cancer auditory system cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0003279 MONDO:0002329 True testicular infarct testicular disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003279 MONDO:0002329 True testicular infarct testicular disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003281 MONDO:0002379 True ovarian cystic teratoma cystic teratoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003281 MONDO:0011366 True ovarian cystic teratoma ovarian germ cell tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0003282 MONDO:0005558 True ovarian cyst ovarian disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003281 MONDO:0011366 True ovarian cystic teratoma ovarian germ cell tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003283 MONDO:0024582 True epididymal neoplasm male reproductive system neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003284 MONDO:0001572 True mediastinum leiomyoma leiomyoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003284 MONDO:0001572 True mediastinum leiomyoma leiomyoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003284 MONDO:0021521 True mediastinum leiomyoma benign neoplasm of mediastinum UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003285 MONDO:0000645 True fallopian tube leiomyoma fallopian tube benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0003285 MONDO:0001572 True fallopian tube leiomyoma leiomyoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003285 MONDO:0000645 True fallopian tube leiomyoma fallopian tube benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003285 MONDO:0001572 True fallopian tube leiomyoma leiomyoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003286 MONDO:0021385 True extrahepatic bile duct leiomyoma extrahepatic bile duct neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003287 MONDO:0000628 True central nervous system leiomyoma central nervous system organ benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0003287 MONDO:0001572 True central nervous system leiomyoma leiomyoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0003288 MONDO:0001572 True bizarre leiomyoma leiomyoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0003289 MONDO:0001572 True deep leiomyoma leiomyoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0003290 MONDO:0005384 True simple partial epilepsy focal epilepsy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003287 MONDO:0001572 True central nervous system leiomyoma leiomyoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003288 MONDO:0001572 True bizarre leiomyoma leiomyoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003289 MONDO:0001572 True deep leiomyoma leiomyoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003291 MONDO:0001572 True leiomyoma cutis leiomyoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003291 MONDO:0002300 True leiomyoma cutis dermis tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003291 MONDO:0002300 True leiomyoma cutis dermis tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003291 MONDO:0021440 True leiomyoma cutis benign neoplasm of skin UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0003292 MONDO:0021469 True anus leiomyoma benign neoplasm of anus UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003293 MONDO:0001572 True lung leiomyoma leiomyoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0003293 MONDO:0002732 True lung leiomyoma lung benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0003294 MONDO:0001572 True pericardium leiomyoma leiomyoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003293 MONDO:0001572 True lung leiomyoma leiomyoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003293 MONDO:0002732 True lung leiomyoma lung benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003294 MONDO:0001572 True pericardium leiomyoma leiomyoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003294 MONDO:0021514 True pericardium leiomyoma benign neoplasm of pericardium UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003295 MONDO:0001572 True leiomyomatosis leiomyoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0003296 MONDO:0001572 True cellular leiomyoma leiomyoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0003297 MONDO:0001572 True gallbladder leiomyoma leiomyoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0003297 MONDO:0021503 True gallbladder leiomyoma benign neoplasm of gallbladder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0003298 MONDO:0000643 True vulvar leiomyoma vulvar benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003295 MONDO:0001572 True leiomyomatosis leiomyoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003296 MONDO:0001572 True cellular leiomyoma leiomyoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003297 MONDO:0001572 True gallbladder leiomyoma leiomyoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003297 MONDO:0021503 True gallbladder leiomyoma benign neoplasm of gallbladder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003298 MONDO:0000643 True vulvar leiomyoma vulvar benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003298 MONDO:0001572 True vulvar leiomyoma leiomyoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003299 MONDO:0001572 True colorectal leiomyoma leiomyoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003299 MONDO:0001572 True colorectal leiomyoma leiomyoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003299 MONDO:0005335 True colorectal leiomyoma colorectal neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0003299 MONDO:0021444 True colorectal leiomyoma benign neoplasm of large intestine UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0003300 MONDO:0021465 True appendix leiomyoma benign neoplasm of appendix UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0003301 MONDO:0003291 True dartoic leiomyoma leiomyoma cutis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003302 MONDO:0016755 True epithelioid neurofibroma neurofibroma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0003303 MONDO:0005411 True neurofibroma of gallbladder gallbladder cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0003303 MONDO:0016755 True neurofibroma of gallbladder neurofibroma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0003304 MONDO:0016755 True plexiform neurofibroma neurofibroma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0003305 MONDO:0016755 True cellular neurofibroma neurofibroma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0003306 MONDO:0016755 True atypical neurofibroma neurofibroma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0003307 MONDO:0002173 True multiple mucosal neuroma neuroma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003302 MONDO:0016755 True epithelioid neurofibroma neurofibroma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003303 MONDO:0016755 True neurofibroma of gallbladder neurofibroma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003304 MONDO:0016755 True plexiform neurofibroma neurofibroma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003305 MONDO:0016755 True cellular neurofibroma neurofibroma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003306 MONDO:0016755 True atypical neurofibroma neurofibroma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003307 MONDO:0002173 True multiple mucosal neuroma neuroma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003308 MONDO:0005065 True pleural mesothelioma mesothelioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0003308 MONDO:0021065 True pleural mesothelioma pleural neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003310 MONDO:0002277 True Monckeberg arteriosclerosis arteriosclerosis disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003310 MONDO:0002277 True Monckeberg arteriosclerosis arteriosclerosis disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003312 MONDO:0021068 True ovarian endometrioid stromal and related neoplasms ovarian neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0003312 MONDO:0037742 True ovarian endometrioid stromal and related neoplasms endometrioid stromal and related neoplasms UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003313 MONDO:0002140 True endometrioid stromal sarcoma of the vagina vagina sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0003314 MONDO:0021050 True endometrioid stromal and related neoplasms of the vagina vaginal neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0003314 MONDO:0037742 True endometrioid stromal and related neoplasms of the vagina endometrioid stromal and related neoplasms UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0003316 MONDO:0019004 True nonanaplastic kidney Wilms tumor kidney Wilms tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003317 MONDO:0019004 True metachronous kidney Wilms' tumor kidney Wilms tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0003318 MONDO:0019004 True mixed cell type kidney Wilms' tumor kidney Wilms tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0003320 MONDO:0019004 True blastema predominant kidney Wilms tumor kidney Wilms tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0003321 MONDO:0019004 True hereditary Wilms tumor kidney Wilms tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0003322 MONDO:0019004 True epithelial predominant Wilms' tumor kidney Wilms tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0003325 MONDO:0005035 True nodular ganglioneuroblastoma ganglioneuroblastoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0003326 MONDO:0005035 True intermixed schwannian stroma-rich ganglioneuroblastoma ganglioneuroblastoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0003327 MONDO:0001406 True peripheral ganglioneuroblastoma peripheral nervous system neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0003327 MONDO:0005035 True peripheral ganglioneuroblastoma ganglioneuroblastoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0003328 MONDO:0000645 True fallopian tube adenomatoid tumor fallopian tube benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003317 MONDO:0019004 True metachronous kidney Wilms' tumor kidney Wilms tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003318 MONDO:0019004 True mixed cell type kidney Wilms' tumor kidney Wilms tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003320 MONDO:0019004 True blastema predominant kidney Wilms tumor kidney Wilms tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003321 MONDO:0019004 True hereditary Wilms tumor kidney Wilms tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003322 MONDO:0019004 True epithelial predominant Wilms' tumor kidney Wilms tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003325 MONDO:0005035 True nodular ganglioneuroblastoma ganglioneuroblastoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003326 MONDO:0005035 True intermixed schwannian stroma-rich ganglioneuroblastoma ganglioneuroblastoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003327 MONDO:0001406 True peripheral ganglioneuroblastoma peripheral nervous system neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003327 MONDO:0005035 True peripheral ganglioneuroblastoma ganglioneuroblastoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003328 MONDO:0000645 True fallopian tube adenomatoid tumor fallopian tube benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003328 MONDO:0004230 True fallopian tube adenomatoid tumor adenomatoid tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003329 MONDO:0001926 True ureteral obstruction ureteral disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0003329 MONDO:0003330 True ureteral obstruction urinary tract obstruction UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0003330 MONDO:0002118 True urinary tract obstruction urinary system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0003331 MONDO:0005602 True ovarian monodermal teratoma ovarian teratoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003330 MONDO:0002118 True urinary tract obstruction urinary system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003331 MONDO:0005602 True ovarian monodermal teratoma ovarian teratoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003332 MONDO:0006444 True malignant struma ovarii teratoma with malignant transformation UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003332 MONDO:0006980 True malignant struma ovarii struma ovarii UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0003333 MONDO:0000646 True benign struma ovarii ovarian benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0003334 MONDO:0001824 True demyelinating polyneuropathy polyneuropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0003335 MONDO:0001824 True chronic polyneuropathy polyneuropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0003340 MONDO:0004992 True malignant glomus tumor cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0003340 MONDO:0018327 True malignant glomus tumor glomus tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003332 MONDO:0006980 True malignant struma ovarii struma ovarii UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003334 MONDO:0001824 True demyelinating polyneuropathy polyneuropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003334 MONDO:0002562 True demyelinating polyneuropathy demyelinating disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003335 MONDO:0001824 True chronic polyneuropathy polyneuropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003336 MONDO:0006009 True acute necrotizing encephalitis viral encephalitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003337 MONDO:0006009 True acute hemorrhagic encephalitis viral encephalitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003340 MONDO:0004992 True malignant glomus tumor cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003340 MONDO:0018327 True malignant glomus tumor glomus tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003341 MONDO:0002295 True subungual glomus tumor skin glomus tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003342 MONDO:0002604 True benign perivascular tumor pericytic neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003342 MONDO:0005165 True benign perivascular tumor benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003342 MONDO:0005165 True benign perivascular tumor benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003343 MONDO:0016748 True retinal hemangioblastoma hemangioblastoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003345 MONDO:0003210 True hilar cholangiocarcinoma intrahepatic cholangiocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0003346 MONDO:0002602 True central nervous system vasculitis central nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0003346 MONDO:0018882 True central nervous system vasculitis vasculitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0003347 MONDO:0005058 True inflammatory leiomyosarcoma leiomyosarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0003348 MONDO:0005058 True conventional leiomyosarcoma leiomyosarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003346 MONDO:0018882 True central nervous system vasculitis vasculitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003347 MONDO:0005058 True inflammatory leiomyosarcoma leiomyosarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003348 MONDO:0005058 True conventional leiomyosarcoma leiomyosarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003349 MONDO:0002217 True central nervous system leiomyosarcoma central nervous system sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003349 MONDO:0005058 True central nervous system leiomyosarcoma leiomyosarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003349 MONDO:0005058 True central nervous system leiomyosarcoma leiomyosarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003349 MONDO:0037740 True central nervous system leiomyosarcoma malignant central nervous system mesenchymal, non-meningothelial neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0003351 MONDO:0003352 True colon leiomyosarcoma colon sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003351 MONDO:0005058 True colon leiomyosarcoma leiomyosarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0003352 MONDO:0005089 True colon sarcoma sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0003352 MONDO:0021063 True colon sarcoma malignant colon neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0003353 MONDO:0003354 True heart leiomyosarcoma heart sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003351 MONDO:0005058 True colon leiomyosarcoma leiomyosarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003352 MONDO:0005089 True colon sarcoma sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003352 MONDO:0021063 True colon sarcoma malignant colon neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003353 MONDO:0003354 True heart leiomyosarcoma heart sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003353 MONDO:0005058 True heart leiomyosarcoma leiomyosarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003354 MONDO:0001340 True heart sarcoma heart cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003354 MONDO:0001340 True heart sarcoma heart cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003354 MONDO:0018078 True heart sarcoma soft tissue sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0003355 MONDO:0002225 True ovary leiomyosarcoma ovarian sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003355 MONDO:0005058 True ovary leiomyosarcoma leiomyosarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0003356 MONDO:0005058 True epithelioid leiomyosarcoma leiomyosarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003355 MONDO:0005058 True ovary leiomyosarcoma leiomyosarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003356 MONDO:0005058 True epithelioid leiomyosarcoma leiomyosarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003357 MONDO:0002426 True lung leiomyosarcoma lung sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003357 MONDO:0005058 True lung leiomyosarcoma leiomyosarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003357 MONDO:0005058 True lung leiomyosarcoma leiomyosarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003358 MONDO:0002865 True anus leiomyosarcoma anus sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003359 MONDO:0005058 True myxoid leiomyosarcoma leiomyosarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003359 MONDO:0005058 True myxoid leiomyosarcoma leiomyosarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003360 MONDO:0003361 True small intestine leiomyosarcoma small intestinal sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003360 MONDO:0005058 True small intestine leiomyosarcoma leiomyosarcoma UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0003360 MONDO:0018506 True small intestine leiomyosarcoma mesenchymal tumor of small intestine UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003361 MONDO:0000956 True small intestinal sarcoma small intestine cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003360 MONDO:0005058 True small intestine leiomyosarcoma leiomyosarcoma UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003361 MONDO:0000956 True small intestinal sarcoma small intestine cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003361 MONDO:0018078 True small intestinal sarcoma soft tissue sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003362 MONDO:0006414 True cutaneous leiomyosarcoma skin sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0003363 MONDO:0002300 True malignant dermis tumor dermis tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003363 MONDO:0002898 True malignant dermis tumor skin cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003363 MONDO:0002898 True malignant dermis tumor skin cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003364 MONDO:0002857 True gallbladder leiomyosarcoma gallbladder sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003364 MONDO:0005058 True gallbladder leiomyosarcoma leiomyosarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0003365 MONDO:0001204 True esophagus leiomyosarcoma esophagus sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003364 MONDO:0005058 True gallbladder leiomyosarcoma leiomyosarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003365 MONDO:0001204 True esophagus leiomyosarcoma esophagus sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003365 MONDO:0005058 True esophagus leiomyosarcoma leiomyosarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003366 MONDO:0006816 True hydrarthrosis arthropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0003367 MONDO:0001056 True gastric leiomyosarcoma gastric cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003367 MONDO:0001056 True gastric leiomyosarcoma gastric cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003367 MONDO:0005058 True gastric leiomyosarcoma leiomyosarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003368 MONDO:0002854 True prostate leiomyosarcoma prostate sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003368 MONDO:0002854 True prostate leiomyosarcoma prostate sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003368 MONDO:0005058 True prostate leiomyosarcoma leiomyosarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003369 MONDO:0002140 True vagina leiomyosarcoma vagina sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003369 MONDO:0002140 True vagina leiomyosarcoma vagina sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003369 MONDO:0005058 True vagina leiomyosarcoma leiomyosarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003370 MONDO:0001501 True retroperitoneal leiomyosarcoma retroperitoneal sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003370 MONDO:0001501 True retroperitoneal leiomyosarcoma retroperitoneal sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003370 MONDO:0005058 True retroperitoneal leiomyosarcoma leiomyosarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003371 MONDO:0002490 True breast leiomyosarcoma breast sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003371 MONDO:0002490 True breast leiomyosarcoma breast sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003371 MONDO:0005058 True breast leiomyosarcoma leiomyosarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003372 MONDO:0005058 True vulvar leiomyosarcoma leiomyosarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003372 MONDO:0005214 True vulvar leiomyosarcoma vulva sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0003373 MONDO:0002930 True kidney leiomyosarcoma kidney sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003372 MONDO:0005214 True vulvar leiomyosarcoma vulva sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003373 MONDO:0002930 True kidney leiomyosarcoma kidney sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003373 MONDO:0005058 True kidney leiomyosarcoma leiomyosarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003374 MONDO:0002448 True laryngeal leiomyosarcoma laryngeal sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003374 MONDO:0005058 True laryngeal leiomyosarcoma leiomyosarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003374 MONDO:0005058 True laryngeal leiomyosarcoma leiomyosarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003376 MONDO:0002852 True mediastinum leiomyosarcoma mediastinum sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003376 MONDO:0005058 True mediastinum leiomyosarcoma leiomyosarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0003377 MONDO:0003090 True extrahepatic bile duct leiomyosarcoma extrahepatic bile duct carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003376 MONDO:0005058 True mediastinum leiomyosarcoma leiomyosarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003377 MONDO:0024658 True extrahepatic bile duct leiomyosarcoma extrahepatic bile duct sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003378 MONDO:0002397 True liver leiomyosarcoma liver sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003378 MONDO:0002397 True liver leiomyosarcoma liver sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003378 MONDO:0005058 True liver leiomyosarcoma leiomyosarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003379 MONDO:0002168 True rectum leiomyosarcoma rectum sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003379 MONDO:0002168 True rectum leiomyosarcoma rectum sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003379 MONDO:0005058 True rectum leiomyosarcoma leiomyosarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003381 MONDO:0005151 True pituitary gland disorder endocrine system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0003383 MONDO:0002746 True fallopian tube clear cell adenocarcinoma fallopian tube adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003382 MONDO:0005328 True eyelid disorder eye disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003383 MONDO:0002746 True fallopian tube clear cell adenocarcinoma fallopian tube adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003383 MONDO:0005004 True fallopian tube clear cell adenocarcinoma clear cell adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003384 MONDO:0002741 True uterine ligament clear cell adenocarcinoma uterine ligament adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0003386 MONDO:0002751 True bladder clear cell adenocarcinoma bladder adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003384 MONDO:0002741 True uterine ligament clear cell adenocarcinoma uterine ligament adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003386 MONDO:0002751 True bladder clear cell adenocarcinoma bladder adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003386 MONDO:0005004 True bladder clear cell adenocarcinoma clear cell adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003387 MONDO:0003200 True urethra clear cell adenocarcinoma urethra adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003387 MONDO:0003200 True urethra clear cell adenocarcinoma urethra adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003387 MONDO:0005004 True urethra clear cell adenocarcinoma clear cell adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003388 MONDO:0002670 True ampulla of vater clear cell adenocarcinoma ampulla of vater adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003388 MONDO:0002670 True ampulla of vater clear cell adenocarcinoma ampulla of vater adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003389 MONDO:0004993 True epithelial-myoepithelial carcinoma carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003390 MONDO:0004953 True glycogen-rich clear cell breast carcinoma invasive ductal breast carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003390 MONDO:0005004 True glycogen-rich clear cell breast carcinoma clear cell adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003390 MONDO:0045055 True glycogen-rich clear cell breast carcinoma glycogen-rich carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0003391 MONDO:0005214 True vulvar alveolar soft part sarcoma vulva sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003390 MONDO:0045055 True glycogen-rich clear cell breast carcinoma glycogen-rich carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003391 MONDO:0005214 True vulvar alveolar soft part sarcoma vulva sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003391 MONDO:0011655 True vulvar alveolar soft part sarcoma alveolar soft part sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003392 MONDO:0005040 True fallopian tube germ cell tumor germ cell tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003392 MONDO:0005040 True fallopian tube germ cell tumor germ cell tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003392 MONDO:0021092 True fallopian tube germ cell tumor fallopian tube neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003393 MONDO:0005046 True thymus gland disorder immune system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0003394 MONDO:0006999 True dental pulp disorder tooth disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003394 MONDO:0006999 True dental pulp disorder tooth disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003395 MONDO:0003125 True testicular granulosa cell tumor testicular sex cord-stromal neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003395 MONDO:0006036 True testicular granulosa cell tumor granulosa cell tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0003396 MONDO:0002507 True epulis gingival overgrowth UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0003397 MONDO:0002507 True gingival hypertrophy gingival overgrowth UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0003398 MONDO:0001152 True anterograde amnesia amnestic disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0003399 MONDO:0002073 True pineal region yolk sac tumor malignant pineal area germ cell neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003395 MONDO:0006036 True testicular granulosa cell tumor granulosa cell tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003396 MONDO:0005079 True epulis polyp UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0003399 MONDO:0002073 True pineal region yolk sac tumor malignant pineal area germ cell neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003400 MONDO:0004479 True childhood endodermal sinus tumor malignant childhood germ cell neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003400 MONDO:0005744 True childhood endodermal sinus tumor yolk sac tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0003401 MONDO:0002714 True central nervous system endodermal sinus tumor central nervous system cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003400 MONDO:0005744 True childhood endodermal sinus tumor yolk sac tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003401 MONDO:0002714 True central nervous system endodermal sinus tumor central nervous system cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003401 MONDO:0003400 True central nervous system endodermal sinus tumor childhood endodermal sinus tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003401 MONDO:0003750 True central nervous system endodermal sinus tumor childhood central nervous system germ cell tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003401 MONDO:0016739 True central nervous system endodermal sinus tumor yolk sac tumor of central nervous system UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0003401 MONDO:0020574 True central nervous system endodermal sinus tumor central nervous system nongerminomatous germ cell tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0003402 MONDO:0002874 True testicular yolk sac tumor testicular pure germ cell tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003402 MONDO:0003403 True testicular yolk sac tumor testicular non-seminomatous germ cell cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003402 MONDO:0003403 True testicular yolk sac tumor testicular non-seminomatous germ cell cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003402 MONDO:0005744 True testicular yolk sac tumor yolk sac tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003403 MONDO:0003510 True testicular non-seminomatous germ cell cancer malignant testicular germ cell tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003403 MONDO:0003510 True testicular non-seminomatous germ cell cancer malignant testicular germ cell tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003403 MONDO:0006447 True testicular non-seminomatous germ cell cancer testicular non-seminomatous germ cell tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003404 MONDO:0005744 True adult yolk sac tumor yolk sac tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003404 MONDO:0005744 True adult yolk sac tumor yolk sac tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003404 MONDO:0044878 True adult yolk sac tumor adult germ cell tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003405 MONDO:0003000 True adult central nervous system germ cell tumor central nervous system germ cell tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003405 MONDO:0003000 True adult central nervous system germ cell tumor central nervous system germ cell tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003405 MONDO:0044878 True adult central nervous system germ cell tumor adult germ cell tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003408 MONDO:0018171 True ovarian primitive germ cell tumor malignant germ cell tumor of ovary UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0003410 MONDO:0005153 True Wolffian duct adenocarcinoma cervical adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003408 MONDO:0018171 True ovarian primitive germ cell tumor malignant germ cell tumor of ovary UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003410 MONDO:0005153 True Wolffian duct adenocarcinoma cervical adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003410 MONDO:0005613 True Wolffian duct adenocarcinoma mesonephric adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0003411 MONDO:0005094 True breast hemangiopericytoma hemangiopericytoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003412 MONDO:0005094 True retroperitoneal hemangiopericytoma hemangiopericytoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003412 MONDO:0005094 True retroperitoneal hemangiopericytoma hemangiopericytoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003413 MONDO:0002297 True hair follicle neoplasm epidermal appendage tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003413 MONDO:0002917 True hair follicle neoplasm disorder of pilosebaceous unit UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003414 MONDO:0006973 True skin pilomatrix carcinoma skin appendage carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003417 MONDO:0003425 True internuclear ophthalmoplegia ophthalmoplegia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0003417 MONDO:0003432 True internuclear ophthalmoplegia strabismus UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0003419 MONDO:0002193 True Bartholin gland adenoma Bartholin gland benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0003419 MONDO:0002198 True Bartholin gland adenoma vulvar glandular neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003419 MONDO:0004972 True Bartholin gland adenoma adenoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003419 MONDO:0004972 True Bartholin gland adenoma adenoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003419 MONDO:0036976 True Bartholin gland adenoma benign epithelial neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003421 MONDO:0004972 True mixed cell adenoma adenoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003421 MONDO:0004972 True mixed cell adenoma adenoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003421 MONDO:0021043 True mixed cell adenoma mixed neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003422 MONDO:0002732 True lung adenoma lung benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0003422 MONDO:0004972 True lung adenoma adenoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003422 MONDO:0002732 True lung adenoma lung benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003422 MONDO:0004972 True lung adenoma adenoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003422 MONDO:0036976 True lung adenoma benign epithelial neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0003423 MONDO:0004972 True middle ear adenoma adenoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003423 MONDO:0021482 True middle ear adenoma benign neoplasm of middle ear UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0003423 MONDO:0036976 True middle ear adenoma benign epithelial neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0003424 MONDO:0004972 True oncocytic adenoma adenoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003424 MONDO:0010795 True oncocytic adenoma oncocytic neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003425 MONDO:0001584 True ophthalmoplegia ocular motility disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0003426 MONDO:0004972 True clear cell adenoma adenoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003426 MONDO:0004972 True clear cell adenoma adenoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003427 MONDO:0002533 True bronchus adenoma papillary adenoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003427 MONDO:0002807 True bronchus adenoma bronchial neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0003427 MONDO:0003422 True bronchus adenoma lung adenoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003428 MONDO:0002328 True brain hemangioma intracranial hemangioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003429 MONDO:0006373 True functioning pituitary gland adenoma pituitary gland adenoma UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0003431 MONDO:0004972 True lipoadenoma adenoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0003432 MONDO:0001584 True strabismus ocular motility disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0003433 MONDO:0004972 True water-clear cell adenoma adenoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003429 MONDO:0006373 True functioning pituitary gland adenoma pituitary gland adenoma UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003431 MONDO:0004972 True lipoadenoma adenoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003433 MONDO:0004972 True water-clear cell adenoma adenoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003434 MONDO:0001704 True vaginal adenoma vaginal glandular neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003434 MONDO:0004972 True vaginal adenoma adenoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003434 MONDO:0004972 True vaginal adenoma adenoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003435 MONDO:0004972 True microcystic adenoma adenoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003437 MONDO:0008433 True occult small cell lung carcinoma small cell lung carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003437 MONDO:0008433 True occult small cell lung carcinoma small cell lung carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003438 MONDO:0006167 True combined small cell lung carcinoma combined lung carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003438 MONDO:0008433 True combined small cell lung carcinoma small cell lung carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003438 MONDO:0008433 True combined small cell lung carcinoma small cell lung carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003439 MONDO:0004987 True urinary bladder villous adenoma urinary bladder neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003441 MONDO:0005395 True dystonic disorder movement disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0003442 MONDO:0003443 True bladder papillary urothelial neoplasm papillary urothelial neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003441 MONDO:0005395 True dystonic disorder movement disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003442 MONDO:0003443 True bladder papillary urothelial neoplasm papillary urothelial neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003442 MONDO:0004987 True bladder papillary urothelial neoplasm urinary bladder neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0003443 MONDO:0021096 True papillary urothelial neoplasm papillary epithelial neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0003443 MONDO:0024337 True papillary urothelial neoplasm urothelial neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003444 MONDO:0006108 True intrahepatic bile duct adenoma bile duct adenoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0003445 MONDO:0006108 True extrahepatic bile duct adenoma bile duct adenoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003444 MONDO:0006108 True intrahepatic bile duct adenoma bile duct adenoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003445 MONDO:0006108 True extrahepatic bile duct adenoma bile duct adenoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003445 MONDO:0021385 True extrahepatic bile duct adenoma extrahepatic bile duct neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003446 MONDO:0002805 True papillary hidradenoma hidradenoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0003447 MONDO:0002805 True clear cell hidradenoma hidradenoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003447 MONDO:0002805 True clear cell hidradenoma hidradenoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003447 MONDO:0003426 True clear cell hidradenoma clear cell adenoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003448 MONDO:0021489 True benign spiradenoma benign neoplasm of sweat gland UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003450 MONDO:0002090 True eccrine papillary adenoma eccrine sweat gland neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0003452 MONDO:0002467 True cochlear disorder inner ear disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0003453 MONDO:0020204 True conjunctival intraepithelial neoplasm conjunctival tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0003453 MONDO:0024475 True conjunctival intraepithelial neoplasm squamous cell intraepithelial neoplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003454 MONDO:0002236 True conjunctival cancer ocular cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003454 MONDO:0002236 True conjunctival cancer ocular cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003454 MONDO:0020204 True conjunctival cancer conjunctival tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003455 MONDO:0000385 True bile duct papillary neoplasm benign digestive system neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0003455 MONDO:0021662 True bile duct papillary neoplasm bile duct neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003458 MONDO:0006071 True uterine corpus adenofibroma adenofibroma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003458 MONDO:0006071 True uterine corpus adenofibroma adenofibroma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003458 MONDO:0021525 True uterine corpus adenofibroma benign neoplasm of corpus uteri UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003459 MONDO:0000644 True cervical adenofibroma cervical benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0003460 MONDO:0006071 True clear cell adenofibroma adenofibroma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0003461 MONDO:0000645 True fallopian tube serous adenofibroma fallopian tube benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003459 MONDO:0000644 True cervical adenofibroma cervical benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003460 MONDO:0006071 True clear cell adenofibroma adenofibroma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003461 MONDO:0000645 True fallopian tube serous adenofibroma fallopian tube benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003461 MONDO:0024886 True fallopian tube serous adenofibroma serous adenofibroma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003462 MONDO:0006071 True papillary adenofibroma adenofibroma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0003463 MONDO:0000646 True ovarian endometrioid adenofibroma ovarian benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0003464 MONDO:0006071 True cystadenofibroma adenofibroma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0003465 MONDO:0010434 True fibrous synovial sarcoma synovial sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003462 MONDO:0006071 True papillary adenofibroma adenofibroma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003463 MONDO:0000646 True ovarian endometrioid adenofibroma ovarian benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003464 MONDO:0006071 True cystadenofibroma adenofibroma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003466 MONDO:0005067 True spindle cell synovial sarcoma monophasic synovial sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003467 MONDO:0002852 True mediastinum synovial sarcoma mediastinum sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003467 MONDO:0010434 True mediastinum synovial sarcoma synovial sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0003468 MONDO:0010434 True biphasic synovial sarcoma synovial sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003467 MONDO:0010434 True mediastinum synovial sarcoma synovial sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003468 MONDO:0010434 True biphasic synovial sarcoma synovial sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003469 MONDO:0005067 True epithelioid cell synovial sarcoma monophasic synovial sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003470 MONDO:0016698 True cellular ependymoma ependymoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0003471 MONDO:0003472 True Pediculus humanus capitis infestation lice infestation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0003472 MONDO:0002875 True lice infestation parasitic ectoparasitic infectious disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003470 MONDO:0016698 True cellular ependymoma ependymoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003472 MONDO:0002875 True lice infestation parasitic ectoparasitic infectious disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003473 MONDO:0016698 True spinal cord ependymoma ependymoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003474 MONDO:0016698 True tanycytic ependymoma ependymoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0003475 MONDO:0016698 True papillary ependymoma ependymoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0003476 MONDO:0016698 True clear cell ependymoma ependymoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003474 MONDO:0016698 True tanycytic ependymoma ependymoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003475 MONDO:0016698 True papillary ependymoma ependymoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003476 MONDO:0016698 True clear cell ependymoma ependymoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003477 MONDO:0002911 True brain stem ependymoma brain stem glioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003477 MONDO:0016698 True brain stem ependymoma ependymoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003478 MONDO:0016698 True childhood ependymoma ependymoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003478 MONDO:0021079 True childhood ependymoma childhood neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003480 MONDO:0002073 True pineal region dysgerminoma malignant pineal area germ cell neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0003481 MONDO:0003002 True dysgerminoma of ovary dysgerminoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0003481 MONDO:0003408 True dysgerminoma of ovary ovarian primitive germ cell tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003482 MONDO:0003472 True Pediculus humanus corporis infestation lice infestation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0003486 MONDO:0005096 True basaloid squamous cell carcinoma squamous cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003486 MONDO:0005096 True basaloid squamous cell carcinoma squamous cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003486 MONDO:0006102 True basaloid squamous cell carcinoma basaloid carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003487 MONDO:0005096 True pseudoglandular squamous cell carcinoma squamous cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0003490 MONDO:0017590 True ampulla of vater squamous cell carcinoma carcinoma of the ampulla of vater UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0003492 MONDO:0002463 True lacrimal gland squamous cell carcinoma lacrimal gland carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0003493 MONDO:0005096 True thymus squamous cell carcinoma squamous cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0003493 MONDO:0006451 True thymus squamous cell carcinoma thymic carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0003494 MONDO:0005096 True ovarian squamous cell carcinoma squamous cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003487 MONDO:0005096 True pseudoglandular squamous cell carcinoma squamous cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003490 MONDO:0017590 True ampulla of vater squamous cell carcinoma carcinoma of the ampulla of vater UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003493 MONDO:0005096 True thymus squamous cell carcinoma squamous cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003493 MONDO:0006451 True thymus squamous cell carcinoma thymic carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003494 MONDO:0005096 True ovarian squamous cell carcinoma squamous cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003494 MONDO:0005140 True ovarian squamous cell carcinoma ovarian carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003497 MONDO:0005096 True renal pelvis squamous cell carcinoma squamous cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0003497 MONDO:0005519 True renal pelvis squamous cell carcinoma renal pelvis carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0003499 MONDO:0002529 True sarcomatoid squamous cell skin carcinoma skin squamous cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0003500 MONDO:0005496 True squamous cell bile duct carcinoma bile duct carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0003501 MONDO:0002944 True external ear squamous cell carcinoma external ear carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003497 MONDO:0005096 True renal pelvis squamous cell carcinoma squamous cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003497 MONDO:0005519 True renal pelvis squamous cell carcinoma renal pelvis carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003499 MONDO:0002529 True sarcomatoid squamous cell skin carcinoma skin squamous cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003501 MONDO:0002944 True external ear squamous cell carcinoma external ear carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003501 MONDO:0010150 True external ear squamous cell carcinoma head and neck squamous cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003502 MONDO:0005096 True ureter squamous cell carcinoma squamous cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0003502 MONDO:0006481 True ureter squamous cell carcinoma ureter carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0003503 MONDO:0005096 True fallopian tube squamous cell carcinoma squamous cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0003503 MONDO:0006206 True fallopian tube squamous cell carcinoma fallopian tube carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0003506 MONDO:0000473 True pulmonary artery choriocarcinoma arterial disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0003506 MONDO:0005207 True pulmonary artery choriocarcinoma choriocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003502 MONDO:0005096 True ureter squamous cell carcinoma squamous cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003502 MONDO:0006481 True ureter squamous cell carcinoma ureter carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003503 MONDO:0005096 True fallopian tube squamous cell carcinoma squamous cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003503 MONDO:0006206 True fallopian tube squamous cell carcinoma fallopian tube carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003506 MONDO:0005207 True pulmonary artery choriocarcinoma choriocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003506 MONDO:0006290 True pulmonary artery choriocarcinoma malignant germ cell tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0003506 MONDO:0040676 True pulmonary artery choriocarcinoma great vessel cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003507 MONDO:0005207 True choriocarcinoma of ovary choriocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0003507 MONDO:0018171 True choriocarcinoma of ovary malignant germ cell tumor of ovary UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003507 MONDO:0005207 True choriocarcinoma of ovary choriocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003508 MONDO:0002871 True choriocarcinoma of testis testicular trophoblastic tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003508 MONDO:0003403 True choriocarcinoma of testis testicular non-seminomatous germ cell cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003508 MONDO:0005207 True choriocarcinoma of testis choriocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0003509 MONDO:0002073 True pineal region choriocarcinoma malignant pineal area germ cell neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003508 MONDO:0005207 True choriocarcinoma of testis choriocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003509 MONDO:0002073 True pineal region choriocarcinoma malignant pineal area germ cell neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003509 MONDO:0016740 True pineal region choriocarcinoma choriocarcinoma of the central nervous system UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003510 MONDO:0005447 True malignant testicular germ cell tumor testicular cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003510 MONDO:0005447 True malignant testicular germ cell tumor testicular cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003510 MONDO:0006290 True malignant testicular germ cell tumor malignant germ cell tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003510 MONDO:0010108 True malignant testicular germ cell tumor testicular germ cell tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003510 MONDO:0010108 True malignant testicular germ cell tumor testicular germ cell tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003512 MONDO:0006424 True mediastinal mesenchymal tumor soft tissue neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0003512 MONDO:0021386 True mediastinal mesenchymal tumor neoplasm of mediastinum UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0003513 MONDO:0002601 True gastric teratoma teratoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003513 MONDO:0021085 True gastric teratoma gastric neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003514 MONDO:0002601 True malignant teratoma teratoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003514 MONDO:0002601 True malignant teratoma teratoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003514 MONDO:0006290 True malignant teratoma malignant germ cell tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0003515 MONDO:0002601 True fallopian tube teratoma teratoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003515 MONDO:0003392 True fallopian tube teratoma fallopian tube germ cell tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003516 MONDO:0002601 True adult teratoma teratoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003516 MONDO:0044878 True adult teratoma adult germ cell tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003517 MONDO:0002601 True mature teratoma teratoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003517 MONDO:0002601 True mature teratoma teratoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003518 MONDO:0002601 True mediastinum teratoma teratoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003518 MONDO:0021067 True mediastinum teratoma mediastinal germ cell tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003519 MONDO:0002206 True malignant syringoma sweat gland cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003519 MONDO:0002206 True malignant syringoma sweat gland cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003522 MONDO:0040674 True male orgasm disorder orgasm disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0003523 MONDO:0000386 True gastrin-producing neuroendocrine tumor digestive system neuroendocrine tumor, grade 1/2 UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003524 MONDO:0003523 True gastric gastrin-producing neuroendocrine tumor gastrin-producing neuroendocrine tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003524 MONDO:0015062 True gastric gastrin-producing neuroendocrine tumor gastric neuroendocrine tumor, well differentiated, low or intermediate grade UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0003525 MONDO:0003523 True pancreatic gastrin-producing neuroendocrine tumor gastrin-producing neuroendocrine tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003525 MONDO:0019954 True pancreatic gastrin-producing neuroendocrine tumor pancreatic neuroendocrine tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003529 MONDO:0006939 True acute pyelonephritis pyelonephritis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003529 MONDO:0006939 True acute pyelonephritis pyelonephritis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003531 MONDO:0002512 True papillary eccrine carcinoma papillary adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003531 MONDO:0024240 True papillary eccrine carcinoma eccrine carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003531 MONDO:0024240 True papillary eccrine carcinoma eccrine carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003532 MONDO:0002512 True breast papillary carcinoma papillary adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003534 MONDO:0002512 True papillary thymic adenocarcinoma papillary adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003534 MONDO:0003209 True papillary thymic adenocarcinoma thymus gland adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0003535 MONDO:0002746 True fallopian tube papillary adenocarcinoma fallopian tube adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003534 MONDO:0003209 True papillary thymic adenocarcinoma thymus gland adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003537 MONDO:0003538 True precursor T-lymphoblastic lymphoma/leukemia precursor lymphoblastic lymphoma/leukemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0003537 MONDO:0024615 True precursor T-lymphoblastic lymphoma/leukemia T-cell and NK-cell neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0003538 MONDO:0005157 True precursor lymphoblastic lymphoma/leukemia lymphoid neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003539 MONDO:0003540 True T-cell adult acute lymphocytic leukemia acute T cell leukemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0003539 MONDO:0003541 True T-cell adult acute lymphocytic leukemia adult acute lymphoblastic leukemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0003540 MONDO:0004967 True acute T cell leukemia acute lymphoblastic leukemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0003541 MONDO:0004967 True adult acute lymphoblastic leukemia acute lymphoblastic leukemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0003542 MONDO:0003394 True dental pulp calcification dental pulp disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0003543 MONDO:0003569 True trigeminal nerve disorder cranial nerve neuropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0003543 MONDO:0003620 True trigeminal nerve disorder peripheral nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0003544 MONDO:0002714 True spinal cord cancer central nervous system cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003539 MONDO:0003541 True T-cell adult acute lymphocytic leukemia adult acute lymphoblastic leukemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003541 MONDO:0004967 True adult acute lymphoblastic leukemia acute lymphoblastic leukemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003543 MONDO:0003569 True trigeminal nerve disorder cranial nerve neuropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003544 MONDO:0002714 True spinal cord cancer central nervous system cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003544 MONDO:0021234 True spinal cord cancer spinal cord neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003546 MONDO:0003569 True third cranial nerve disorder cranial nerve neuropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0003546 MONDO:0003620 True third cranial nerve disorder peripheral nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003546 MONDO:0003569 True third cranial nerve disorder cranial nerve neuropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003548 MONDO:0006074 True adenosquamous breast carcinoma adenosquamous carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003550 MONDO:0006074 True esophageal adenosquamous carcinoma adenosquamous carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003551 MONDO:0006074 True thymic adenosquamous carcinoma adenosquamous carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003554 MONDO:0006157 True adenosquamous colon carcinoma colorectal adenosquamous carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0003555 MONDO:0006074 True Bartholin gland adenosquamous carcinoma adenosquamous carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003556 MONDO:0006074 True endometrial adenosquamous carcinoma adenosquamous carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003557 MONDO:0002640 True optic nerve sheath meningioma optic nerve neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003557 MONDO:0002640 True optic nerve sheath meningioma optic nerve neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003557 MONDO:0016642 True optic nerve sheath meningioma meningioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003558 MONDO:0006074 True adenosquamous prostate carcinoma adenosquamous carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003561 MONDO:0002142 True malignant giant cell tumor of soft parts undifferentiated pleomorphic sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003561 MONDO:0002402 True malignant giant cell tumor of soft parts malignant giant cell tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0003563 MONDO:0002771 True diffuse pulmonary fibrosis pulmonary fibrosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0003564 MONDO:0002771 True localized pulmonary fibrosis pulmonary fibrosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003561 MONDO:0002402 True malignant giant cell tumor of soft parts malignant giant cell tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003563 MONDO:0002771 True diffuse pulmonary fibrosis pulmonary fibrosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003564 MONDO:0002771 True localized pulmonary fibrosis pulmonary fibrosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003565 MONDO:0021239 True urethral villous adenoma urethra neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003567 MONDO:0002467 True bilateral hypoactive labyrinth inner ear disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0003569 MONDO:0005071 True cranial nerve neuropathy nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003569 MONDO:0005071 True cranial nerve neuropathy nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003570 MONDO:0004993 True lipid-rich carcinoma carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003572 MONDO:0005232 True nasopharyngeal type undifferentiated carcinoma large cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003573 MONDO:0006406 True pleomorphic carcinoma sarcomatoid carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0003574 MONDO:0003277 True external ear cancer malignant ear neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0003574 MONDO:0004532 True external ear cancer auditory system cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003573 MONDO:0006406 True pleomorphic carcinoma sarcomatoid carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003574 MONDO:0003277 True external ear cancer malignant ear neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003574 MONDO:0021235 True external ear cancer external ear neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0003575 MONDO:0004993 True comedocarcinoma carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003578 MONDO:0003113 True extragonadal nonseminomatous germ cell tumor extragonadal germ cell cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003579 MONDO:0001834 True retinal nerve fiber layer disorder visual pathway disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0003579 MONDO:0005283 True retinal nerve fiber layer disorder retinal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0003581 MONDO:0005440 True ovarian embryonal carcinoma embryonal carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003581 MONDO:0005440 True ovarian embryonal carcinoma embryonal carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003581 MONDO:0016096 True ovarian embryonal carcinoma malignant non-dysgerminomatous germ cell tumor of ovary UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003582 MONDO:0000426 True hereditary breast ovarian cancer syndrome autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0003584 MONDO:0001834 True visual cortex disorder visual pathway disorder UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0003585 MONDO:0005060 True adult liposarcoma liposarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003582 MONDO:0015356 True hereditary breast ovarian cancer syndrome hereditary neoplastic syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0003585 MONDO:0005060 True adult liposarcoma liposarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003586 MONDO:0001204 True esophagus liposarcoma esophagus sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003586 MONDO:0005060 True esophagus liposarcoma liposarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0003587 MONDO:0005060 True pediatric liposarcoma liposarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003586 MONDO:0005060 True esophagus liposarcoma liposarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003587 MONDO:0005060 True pediatric liposarcoma liposarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003587 MONDO:0006517 True pediatric liposarcoma childhood malignant neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0003588 MONDO:0002448 True larynx liposarcoma laryngeal sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003588 MONDO:0005060 True larynx liposarcoma liposarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003588 MONDO:0005060 True larynx liposarcoma liposarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003589 MONDO:0002225 True liposarcoma of the ovary ovarian sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003589 MONDO:0005060 True liposarcoma of the ovary liposarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0003590 MONDO:0005060 True fibroblastic liposarcoma liposarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003589 MONDO:0005060 True liposarcoma of the ovary liposarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003591 MONDO:0002930 True kidney liposarcoma kidney sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003591 MONDO:0005060 True kidney liposarcoma liposarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0003592 MONDO:0001056 True gastric liposarcoma gastric cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003591 MONDO:0005060 True kidney liposarcoma liposarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003592 MONDO:0001056 True gastric liposarcoma gastric cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003592 MONDO:0005060 True gastric liposarcoma liposarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003593 MONDO:0002490 True breast liposarcoma breast sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003593 MONDO:0002490 True breast liposarcoma breast sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003593 MONDO:0005060 True breast liposarcoma liposarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003594 MONDO:0005060 True mixed liposarcoma liposarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0003599 MONDO:0005060 True vulvar liposarcoma liposarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003594 MONDO:0005060 True mixed liposarcoma liposarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003599 MONDO:0005060 True vulvar liposarcoma liposarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003599 MONDO:0005214 True vulvar liposarcoma vulva sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003600 MONDO:0005060 True cutaneous liposarcoma liposarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003600 MONDO:0006414 True cutaneous liposarcoma skin sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003600 MONDO:0006414 True cutaneous liposarcoma skin sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003601 MONDO:0002852 True mediastinum liposarcoma mediastinum sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003601 MONDO:0005060 True mediastinum liposarcoma liposarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0003602 MONDO:0005060 True intracranial liposarcoma liposarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0003606 MONDO:0002817 True adrenal medulla cancer adrenal gland cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003601 MONDO:0005060 True mediastinum liposarcoma liposarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003602 MONDO:0005060 True intracranial liposarcoma liposarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003606 MONDO:0002817 True adrenal medulla cancer adrenal gland cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003606 MONDO:0021237 True adrenal medulla cancer adrenal medulla neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003608 MONDO:0002135 True optic atrophy optic nerve disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0003609 MONDO:0002369 True seminal vesicle cystadenoma cystadenoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003609 MONDO:0002790 True seminal vesicle cystadenoma seminal vesicle tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0003610 MONDO:0004005 True rete ovarii cystadenoma rete ovarii adenoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003609 MONDO:0002790 True seminal vesicle cystadenoma seminal vesicle tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003611 MONDO:0021091 True uterine ligament papillary cystadenoma associated with von Hippel-Lindau disease papillary cystadenoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0003611 MONDO:0021629 True uterine ligament papillary cystadenoma associated with von Hippel-Lindau disease uterine ligament neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0003612 MONDO:0021629 True uterine ligament cancer uterine ligament neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0003614 MONDO:0003295 True intravenous leiomyomatosis leiomyomatosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003616 MONDO:0003617 True salpingitis isthmica nodosa chronic salpingitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0003617 MONDO:0003619 True chronic salpingitis salpingitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0003618 MONDO:0003619 True pyosalpinx salpingitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0003619 MONDO:0002156 True salpingitis fallopian tube disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0003620 MONDO:0005071 True peripheral nervous system disorder nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003615 MONDO:0005244 True nerve compression syndrome peripheral neuropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003617 MONDO:0003619 True chronic salpingitis salpingitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003619 MONDO:0000922 True salpingitis pelvic inflammatory disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003619 MONDO:0002156 True salpingitis fallopian tube disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003620 MONDO:0005071 True peripheral nervous system disorder nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003621 MONDO:0002995 True small intestinal vasoactive intestinal peptide producing tumor small intestine neuroendocrine tumor, well differentiated, low or intermediate grade UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0003621 MONDO:0019960 True small intestinal vasoactive intestinal peptide producing tumor VIPoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003622 MONDO:0019960 True pancreatic vasoactive intestinal peptide producing tumor VIPoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003624 MONDO:0004965 True acinic cell breast carcinoma acinar cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003626 MONDO:0002741 True uterine ligament serous adenocarcinoma uterine ligament adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0003627 MONDO:0000603 True rheumatic pulmonary valve disease autoimmune disorder of cardiovascular system UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0003627 MONDO:0003628 True rheumatic pulmonary valve disease pulmonary valve disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0003628 MONDO:0002869 True pulmonary valve disorder heart valve disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0003629 MONDO:0006003 True uterine corpus serous adenocarcinoma uterine corpus cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003628 MONDO:0002869 True pulmonary valve disorder heart valve disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003630 MONDO:0002810 True pancreatic serous cystadenocarcinoma pancreatic serous cystic neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003630 MONDO:0002867 True pancreatic serous cystadenocarcinoma pancreatic cystadenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003630 MONDO:0002867 True pancreatic serous cystadenocarcinoma pancreatic cystadenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003630 MONDO:0024621 True pancreatic serous cystadenocarcinoma serous cystadenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003631 MONDO:0005153 True cervical serous adenocarcinoma cervical adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003631 MONDO:0005153 True cervical serous adenocarcinoma cervical adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003631 MONDO:0005278 True cervical serous adenocarcinoma serous adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003632 MONDO:0002345 True endocervicitis cervicitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0003633 MONDO:0004992 True malignant mesenchymoma cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0003633 MONDO:0006854 True malignant mesenchymoma mesenchymoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0003634 MONDO:0005240 True proteinuria kidney disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003632 MONDO:0002345 True endocervicitis cervicitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003633 MONDO:0006854 True malignant mesenchymoma mesenchymoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003635 MONDO:0004988 True sebaceous breast carcinoma breast adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003635 MONDO:0006256 True sebaceous breast carcinoma invasive breast carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0003635 MONDO:0006962 True sebaceous breast carcinoma sebaceous adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003636 MONDO:0006962 True vulvar sebaceous carcinoma sebaceous adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003636 MONDO:0024336 True vulvar sebaceous carcinoma vulvar adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003637 MONDO:0002732 True clear cell-sugar-tumor of the lung lung benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003637 MONDO:0002732 True clear cell-sugar-tumor of the lung lung benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003637 MONDO:0020581 True clear cell-sugar-tumor of the lung benign PEComa UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0003637 MONDO:0020588 True clear cell-sugar-tumor of the lung lung PEComa UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003638 MONDO:0008903 True lung meningioma lung cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0003638 MONDO:0016642 True lung meningioma meningioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003638 MONDO:0016642 True lung meningioma meningioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003639 MONDO:0021117 True lung hilum neoplasm lung neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0003640 MONDO:0005236 True verruciform xanthoma of skin xanthoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0003641 MONDO:0006130 True central nervous system hematopoietic neoplasm central nervous system neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0003641 MONDO:0044881 True central nervous system hematopoietic neoplasm hematopoietic and lymphoid cell neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003643 MONDO:0003155 True giant hemangioma cavernous hemangioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003643 MONDO:0003155 True giant hemangioma cavernous hemangioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003644 MONDO:0002278 True cavernous hemangioma of colon benign colon neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003644 MONDO:0003155 True cavernous hemangioma of colon cavernous hemangioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0003645 MONDO:0003155 True cavernous hemangioma of face cavernous hemangioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003644 MONDO:0003155 True cavernous hemangioma of colon cavernous hemangioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003645 MONDO:0003155 True cavernous hemangioma of face cavernous hemangioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003646 MONDO:0002883 True rectum neuroendocrine neoplasm intestinal neuroendocrine neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003647 MONDO:0003648 True atrophic flaccid tympanic membrane tympanic membrane disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0003648 MONDO:0003276 True tympanic membrane disorder middle ear disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0003649 MONDO:0000386 True esophageal neuroendocrine tumor digestive system neuroendocrine tumor, grade 1/2 UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003649 MONDO:0021355 True esophageal neuroendocrine tumor neoplasm of esophagus UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003650 MONDO:0018666 True mixed hepatoblastoma hepatoblastoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0003651 MONDO:0018666 True macrotrabecular hepatoblastoma hepatoblastoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0003652 MONDO:0008171 True acute urate nephropathy nephrolithiasis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003650 MONDO:0018666 True mixed hepatoblastoma hepatoblastoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003651 MONDO:0018666 True macrotrabecular hepatoblastoma hepatoblastoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003652 MONDO:0008171 True acute urate nephropathy nephrolithiasis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003654 MONDO:0002623 True childhood parosteal osteosarcoma pediatric osteosarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003654 MONDO:0006817 True childhood parosteal osteosarcoma juxtacortical osteosarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003654 MONDO:0006817 True childhood parosteal osteosarcoma juxtacortical osteosarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003655 MONDO:0002571 True cerebral lymphoma primary central nervous system lymphoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003655 MONDO:0002731 True cerebral lymphoma cerebral hemisphere cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0003656 MONDO:0003634 True hemoglobinuria proteinuria UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0003658 MONDO:0005062 True B-cell lymphoma, unclassifiable, with features intermediate between diffuse large b-cell lymphoma and classical Hodgkin lymphoma lymphoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0003659 MONDO:0005062 True pediatric lymphoma lymphoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003655 MONDO:0002731 True cerebral lymphoma cerebral hemisphere cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003658 MONDO:0005062 True B-cell lymphoma, unclassifiable, with features intermediate between diffuse large b-cell lymphoma and classical Hodgkin lymphoma lymphoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003659 MONDO:0005062 True pediatric lymphoma lymphoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003659 MONDO:0006517 True pediatric lymphoma childhood malignant neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003660 MONDO:0005062 True adult lymphoma lymphoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0003661 MONDO:0005062 True breast lymphoma lymphoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0003661 MONDO:0007254 True breast lymphoma breast cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0003663 MONDO:0002741 True uterine ligament endometrioid adenocarcinoma uterine ligament adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0003664 MONDO:0004139 True hemolytic anemia normocytic anemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003660 MONDO:0005062 True adult lymphoma lymphoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003661 MONDO:0005062 True breast lymphoma lymphoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003661 MONDO:0007254 True breast lymphoma breast cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003663 MONDO:0002741 True uterine ligament endometrioid adenocarcinoma uterine ligament adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003664 MONDO:0004139 True hemolytic anemia normocytic anemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003665 MONDO:0005026 True cervical endometrioid adenocarcinoma endometrioid adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003665 MONDO:0005153 True cervical endometrioid adenocarcinoma cervical adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0003666 MONDO:0002746 True fallopian tube endometrioid adenocarcinoma fallopian tube adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003665 MONDO:0005153 True cervical endometrioid adenocarcinoma cervical adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003666 MONDO:0002746 True fallopian tube endometrioid adenocarcinoma fallopian tube adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003666 MONDO:0005026 True fallopian tube endometrioid adenocarcinoma endometrioid adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003668 MONDO:0003001 True extragonadal seminoma seminoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003668 MONDO:0003001 True extragonadal seminoma seminoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003668 MONDO:0003113 True extragonadal seminoma extragonadal germ cell cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003669 MONDO:0002874 True testicular seminoma testicular pure germ cell tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003669 MONDO:0003001 True testicular seminoma seminoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003669 MONDO:0003510 True testicular seminoma malignant testicular germ cell tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003670 MONDO:0005068 True posteroinferior myocardial infarction myocardial infarction UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0003671 MONDO:0005068 True septal myocardial infarction myocardial infarction UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0003672 MONDO:0005068 True posterior myocardial infarction myocardial infarction UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0003673 MONDO:0005068 True apical myocardial infarction myocardial infarction UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0003674 MONDO:0005068 True subendocardial myocardial infarction myocardial infarction UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0003675 MONDO:0005068 True posterolateral myocardial infarction myocardial infarction UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0003676 MONDO:0005068 True inferolateral myocardial infarct myocardial infarction UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0003677 MONDO:0005068 True lateral myocardial infarction myocardial infarction UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0003678 MONDO:0005068 True silent myocardial infarction myocardial infarction UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0003679 MONDO:0005068 True anteroseptal myocardial infarction myocardial infarction UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0003680 MONDO:0021054 True periosteal chondrosarcoma bone sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0003681 MONDO:0008977 True myxoid chondrosarcoma chondrosarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0003682 MONDO:0008977 True localized chondrosarcoma chondrosarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0003684 MONDO:0021054 True clear cell chondrosarcoma bone sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003678 MONDO:0005068 True silent myocardial infarction myocardial infarction UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003680 MONDO:0021054 True periosteal chondrosarcoma bone sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003682 MONDO:0008977 True localized chondrosarcoma chondrosarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003684 MONDO:0021054 True clear cell chondrosarcoma bone sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003685 MONDO:0005040 True retroperitoneal germ cell neoplasm germ cell tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003685 MONDO:0024645 True retroperitoneal germ cell neoplasm retroperitoneal neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003686 MONDO:0002381 True apocrine sweat gland neoplasm sweat gland neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0003687 MONDO:0001340 True endocardium cancer heart cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003686 MONDO:0002381 True apocrine sweat gland neoplasm sweat gland neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003687 MONDO:0001340 True endocardium cancer heart cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003687 MONDO:0021378 True endocardium cancer neoplasm of endocardium UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003689 MONDO:0003664 True familial hemolytic anemia hemolytic anemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0003690 MONDO:0016700 True adult anaplastic ependymoma anaplastic ependymoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0003691 MONDO:0003633 True childhood malignant mesenchymoma malignant mesenchymoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0003692 MONDO:0003633 True adult malignant mesenchymoma malignant mesenchymoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003688 MONDO:0005065 True well differentiated papillary mesothelioma mesothelioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0003689 MONDO:0003664 True familial hemolytic anemia hemolytic anemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003690 MONDO:0016700 True adult anaplastic ependymoma anaplastic ependymoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003691 MONDO:0003633 True childhood malignant mesenchymoma malignant mesenchymoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003692 MONDO:0003633 True adult malignant mesenchymoma malignant mesenchymoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003693 MONDO:0003460 True clear cell cystadenofibroma clear cell adenofibroma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003693 MONDO:0003464 True clear cell cystadenofibroma cystadenofibroma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003693 MONDO:0003464 True clear cell cystadenofibroma cystadenofibroma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003694 MONDO:0003693 True ovarian clear cell cystadenofibroma clear cell cystadenofibroma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003694 MONDO:0003695 True ovarian clear cell cystadenofibroma ovarian clear cell adenofibroma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0003695 MONDO:0000646 True ovarian clear cell adenofibroma ovarian benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003694 MONDO:0003695 True ovarian clear cell cystadenofibroma ovarian clear cell adenofibroma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003695 MONDO:0000646 True ovarian clear cell adenofibroma ovarian benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003695 MONDO:0003460 True ovarian clear cell adenofibroma clear cell adenofibroma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003697 MONDO:0003698 True non-invasive verrucous carcinoma of the penis penis verrucous carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0003698 MONDO:0004433 True penis verrucous carcinoma papillary carcinoma of the penis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003698 MONDO:0006006 True penis verrucous carcinoma verrucous carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003699 MONDO:0005618 True phobic disorder anxiety disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0003700 MONDO:0003100 True brachial plexus neoplasm nerve plexus neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0003701 MONDO:0005075 True thyroid gland diffuse sclerosing papillary carcinoma thyroid gland papillary carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0003702 MONDO:0000632 True uterus intravascular leiomyomatosis uterine benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003699 MONDO:0005618 True phobic disorder anxiety disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003700 MONDO:0003100 True brachial plexus neoplasm nerve plexus neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003701 MONDO:0005075 True thyroid gland diffuse sclerosing papillary carcinoma thyroid gland papillary carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003702 MONDO:0000632 True uterus intravascular leiomyomatosis uterine benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003702 MONDO:0003614 True uterus intravascular leiomyomatosis intravenous leiomyomatosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003704 MONDO:0003295 True uterine corpus diffuse leiomyomatosis leiomyomatosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003704 MONDO:0007886 True uterine corpus diffuse leiomyomatosis uterine corpus leiomyoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003705 MONDO:0003153 True adult brainstem mixed glioma adult brainstem glioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003705 MONDO:0003153 True adult brainstem mixed glioma adult brainstem glioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003706 MONDO:0002503 True adult brainstem astrocytoma adult astrocytic tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003706 MONDO:0003153 True adult brainstem astrocytoma adult brainstem glioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003706 MONDO:0003153 True adult brainstem astrocytoma adult brainstem glioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003706 MONDO:0003173 True adult brainstem astrocytoma brain stem astrocytic neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003707 MONDO:0003090 True distal biliary tract carcinoma extrahepatic bile duct carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003708 MONDO:0000402 True extrahepatic bile duct small cell adenocarcinoma small cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003708 MONDO:0002665 True extrahepatic bile duct small cell adenocarcinoma extrahepatic bile duct adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0003709 MONDO:0003699 True agoraphobia phobic disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0003710 MONDO:0003408 True ovarian mixed germ cell neoplasm ovarian primitive germ cell tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003709 MONDO:0003699 True agoraphobia phobic disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003710 MONDO:0003408 True ovarian mixed germ cell neoplasm ovarian primitive germ cell tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003710 MONDO:0015864 True ovarian mixed germ cell neoplasm mixed germ cell tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003712 MONDO:0003143 True angiokeratoma of mibelli angiokeratoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003712 MONDO:0003143 True angiokeratoma of mibelli angiokeratoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003713 MONDO:0003143 True angiokeratoma circumscriptum angiokeratoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003714 MONDO:0002760 True bladder urachal squamous cell carcinoma bladder squamous cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003714 MONDO:0003715 True bladder urachal squamous cell carcinoma bladder urachal carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0003715 MONDO:0004986 True bladder urachal carcinoma urinary bladder carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003714 MONDO:0003715 True bladder urachal squamous cell carcinoma bladder urachal carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003715 MONDO:0004986 True bladder urachal carcinoma urinary bladder carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003716 MONDO:0003717 True renal pelvis papillary urothelial carcinoma renal pelvis papillary tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003716 MONDO:0005221 True renal pelvis papillary urothelial carcinoma renal pelvis urothelial carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003716 MONDO:0005221 True renal pelvis papillary urothelial carcinoma renal pelvis urothelial carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003716 MONDO:0006350 True renal pelvis papillary urothelial carcinoma papillary transitional cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003717 MONDO:0003443 True renal pelvis papillary tumor papillary urothelial neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003717 MONDO:0003719 True renal pelvis papillary tumor renal pelvis neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0003718 MONDO:0011057 True occlusion precerebral artery cerebrovascular disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003717 MONDO:0003719 True renal pelvis papillary tumor renal pelvis neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003719 MONDO:0021163 True renal pelvis neoplasm kidney neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003720 MONDO:0002930 True kidney fibrosarcoma kidney sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003720 MONDO:0002930 True kidney fibrosarcoma kidney sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003720 MONDO:0005164 True kidney fibrosarcoma fibrosarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003721 MONDO:0002621 True kidney osteogenic sarcoma extraosseous osteosarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003721 MONDO:0002930 True kidney osteogenic sarcoma kidney sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003721 MONDO:0002930 True kidney osteogenic sarcoma kidney sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003722 MONDO:0003121 True internal auditory canal meningioma middle cranial fossa meningioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003724 MONDO:0005219 True non-proliferative fibrocystic change of the breast breast fibrocystic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0003725 MONDO:0002657 True breast adenosis breast disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0003726 MONDO:0003724 True apocrine adenosis of breast non-proliferative fibrocystic change of the breast UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0003727 MONDO:0012000 True animal phobia specific phobia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0003728 MONDO:0002490 True breast fibrosarcoma breast sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003724 MONDO:0005219 True non-proliferative fibrocystic change of the breast breast fibrocystic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003725 MONDO:0002657 True breast adenosis breast disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003726 MONDO:0003724 True apocrine adenosis of breast non-proliferative fibrocystic change of the breast UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003726 MONDO:0003725 True apocrine adenosis of breast breast adenosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003727 MONDO:0012000 True animal phobia specific phobia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003728 MONDO:0002490 True breast fibrosarcoma breast sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003728 MONDO:0005164 True breast fibrosarcoma fibrosarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003729 MONDO:0003730 True aleukemic leukemia cutis aleukemic leukemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0003730 MONDO:0005059 True aleukemic leukemia leukemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0003731 MONDO:0002718 True adult central nervous system teratoma central nervous system teratoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003729 MONDO:0003730 True aleukemic leukemia cutis aleukemic leukemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003730 MONDO:0005059 True aleukemic leukemia leukemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003731 MONDO:0002718 True adult central nervous system teratoma central nervous system teratoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003731 MONDO:0003405 True adult central nervous system teratoma adult central nervous system germ cell tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003731 MONDO:0003516 True adult central nervous system teratoma adult teratoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003732 MONDO:0003731 True adult central nervous system mature teratoma adult central nervous system teratoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0003732 MONDO:0003733 True adult central nervous system mature teratoma central nervous system mature teratoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0003733 MONDO:0002718 True central nervous system mature teratoma central nervous system teratoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003732 MONDO:0003731 True adult central nervous system mature teratoma adult central nervous system teratoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003732 MONDO:0003733 True adult central nervous system mature teratoma central nervous system mature teratoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003733 MONDO:0002718 True central nervous system mature teratoma central nervous system teratoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003733 MONDO:0003517 True central nervous system mature teratoma mature teratoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003734 MONDO:0003731 True adult central nervous system immature teratoma adult central nervous system teratoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0003734 MONDO:0003735 True adult central nervous system immature teratoma central nervous system immature teratoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0003735 MONDO:0002718 True central nervous system immature teratoma central nervous system teratoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0003736 MONDO:0000600 True cancerophobia nosophobia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003734 MONDO:0003731 True adult central nervous system immature teratoma adult central nervous system teratoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003734 MONDO:0003735 True adult central nervous system immature teratoma central nervous system immature teratoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003735 MONDO:0002718 True central nervous system immature teratoma central nervous system teratoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003737 MONDO:0000377 True malignant testicular Leydig cell tumor malignant Leydig cell tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0003737 MONDO:0003124 True malignant testicular Leydig cell tumor testicular Leydig cell tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003738 MONDO:0001342 True selective IgE deficiency disease dysgammaglobulinemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0003739 MONDO:0002211 True selective immunoglobulin deficiency disease B cell deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0003740 MONDO:0000600 True AIDS phobia nosophobia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0003741 MONDO:0003395 True juvenile type testicular granulosa cell tumor testicular granulosa cell tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0003742 MONDO:0003354 True heart fibrosarcoma heart sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003739 MONDO:0002211 True selective immunoglobulin deficiency disease B cell deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003741 MONDO:0003395 True juvenile type testicular granulosa cell tumor testicular granulosa cell tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003742 MONDO:0003354 True heart fibrosarcoma heart sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003742 MONDO:0005164 True heart fibrosarcoma fibrosarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003743 MONDO:0005094 True heart malignant hemangiopericytoma hemangiopericytoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003744 MONDO:0006427 True spindle cell intraocular melanoma spindle cell melanoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003744 MONDO:0006486 True spindle cell intraocular melanoma uveal melanoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003745 MONDO:0003744 True choroid spindle cell melanoma spindle cell intraocular melanoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003745 MONDO:0003878 True choroid spindle cell melanoma malignant choroid melanoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003745 MONDO:0003878 True choroid spindle cell melanoma malignant choroid melanoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003746 MONDO:0003912 True ciliary body spindle cell melanoma malignant ciliary body melanoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003747 MONDO:0002298 True telangiectatic glomangioma cutaneous glomangioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0003748 MONDO:0012000 True flying phobia specific phobia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0003749 MONDO:0004335 True esophageal disorder digestive system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0003750 MONDO:0003000 True childhood central nervous system germ cell tumor central nervous system germ cell tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003747 MONDO:0002298 True telangiectatic glomangioma cutaneous glomangioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003748 MONDO:0012000 True flying phobia specific phobia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003749 MONDO:0004335 True esophageal disorder digestive system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003750 MONDO:0003000 True childhood central nervous system germ cell tumor central nervous system germ cell tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003750 MONDO:0003751 True childhood central nervous system germ cell tumor childhood germ cell tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003751 MONDO:0005040 True childhood germ cell tumor germ cell tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003751 MONDO:0005040 True childhood germ cell tumor germ cell tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003751 MONDO:0021079 True childhood germ cell tumor childhood neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0003752 MONDO:0006353 True frontal sinus Schneiderian papilloma paranasal sinus Schneiderian papilloma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0003752 MONDO:0021483 True frontal sinus Schneiderian papilloma benign neoplasm of frontal sinus UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0003753 MONDO:0001825 True nasal vestibule squamous papilloma squamous papilloma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003753 MONDO:0021475 True nasal vestibule squamous papilloma benign neoplasm of nasal cavity UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003754 MONDO:0003757 True Brown-Sequard syndrome paraplegia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003754 MONDO:0002254 True Brown-Sequard syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003755 MONDO:0024337 True urinary tract non-invasive transitional cell neoplasm urothelial neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003756 MONDO:0002229 True ovarian mucinous neoplasm ovarian epithelial tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0003758 MONDO:0010108 True childhood testicular germ cell tumor testicular germ cell tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003756 MONDO:0002229 True ovarian mucinous neoplasm ovarian epithelial tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003758 MONDO:0010108 True childhood testicular germ cell tumor testicular germ cell tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003758 MONDO:0020577 True childhood testicular germ cell tumor childhood gonadal germ cell tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0003758 MONDO:0037250 True childhood testicular germ cell tumor childhood testicular neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0003759 MONDO:0003400 True childhood ovarian yolk sac tumor childhood endodermal sinus tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003759 MONDO:0003760 True childhood ovarian yolk sac tumor pediatric ovarian germ cell tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003759 MONDO:0006344 True childhood ovarian yolk sac tumor ovarian yolk sac tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003759 MONDO:0006344 True childhood ovarian yolk sac tumor ovarian yolk sac tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003759 MONDO:0020577 True childhood ovarian yolk sac tumor childhood gonadal germ cell tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0003760 MONDO:0003751 True pediatric ovarian germ cell tumor childhood germ cell tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003760 MONDO:0011366 True pediatric ovarian germ cell tumor ovarian germ cell tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0003761 MONDO:0003762 True leptomeningeal melanoma malignant leptomeningeal tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003760 MONDO:0011366 True pediatric ovarian germ cell tumor ovarian germ cell tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003761 MONDO:0003762 True leptomeningeal melanoma malignant leptomeningeal tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003761 MONDO:0016747 True leptomeningeal melanoma primary melanoma of the central nervous system UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003762 MONDO:0016642 True malignant leptomeningeal tumor meningioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0003762 MONDO:0021322 True malignant leptomeningeal tumor malignant tumor of meninges UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003763 MONDO:0005618 True acute stress disorder anxiety disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0003764 MONDO:0003761 True pediatric leptomeningeal melanoma leptomeningeal melanoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0003765 MONDO:0003761 True adult leptomeningeal melanoma leptomeningeal melanoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0003766 MONDO:0002786 True thalamic cancer diencephalic cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0003767 MONDO:0002869 True mitral valve disorder heart valve disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0003768 MONDO:0002742 True signet ring cell variant cervical mucinous adenocarcinoma cervical mucinous adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003763 MONDO:0005618 True acute stress disorder anxiety disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003764 MONDO:0003761 True pediatric leptomeningeal melanoma leptomeningeal melanoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003765 MONDO:0003761 True adult leptomeningeal melanoma leptomeningeal melanoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003766 MONDO:0002786 True thalamic cancer diencephalic cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003767 MONDO:0002869 True mitral valve disorder heart valve disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003768 MONDO:0002742 True signet ring cell variant cervical mucinous adenocarcinoma cervical mucinous adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003768 MONDO:0005092 True signet ring cell variant cervical mucinous adenocarcinoma signet ring cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003769 MONDO:0002270 True herpetic gastritis viral gastritis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0003770 MONDO:0001279 True thoracic spinal canal and spinal cord meningioma intraspinal meningioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0003771 MONDO:0016642 True jugular foramen meningioma meningioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0003772 MONDO:0000642 True cerebral meningioma brain meningioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0003772 MONDO:0002731 True cerebral meningioma cerebral hemisphere cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0003773 MONDO:0003772 True intracerebral cystic meningioma cerebral meningioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0003774 MONDO:0003772 True cerebral convexity meningioma cerebral meningioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0003775 MONDO:0002772 True lateral ventricle meningioma intraventricular meningioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0003775 MONDO:0003772 True lateral ventricle meningioma cerebral meningioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0003776 MONDO:0003777 True renal pelvis inverted papilloma renal pelvis urothelial papilloma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003769 MONDO:0002270 True herpetic gastritis viral gastritis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003770 MONDO:0001279 True thoracic spinal canal and spinal cord meningioma intraspinal meningioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003771 MONDO:0016642 True jugular foramen meningioma meningioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003773 MONDO:0003772 True intracerebral cystic meningioma cerebral meningioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003774 MONDO:0003772 True cerebral convexity meningioma cerebral meningioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003775 MONDO:0002772 True lateral ventricle meningioma intraventricular meningioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003775 MONDO:0003772 True lateral ventricle meningioma cerebral meningioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003776 MONDO:0003777 True renal pelvis inverted papilloma renal pelvis urothelial papilloma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003776 MONDO:0021109 True renal pelvis inverted papilloma inverted urothelial papilloma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003777 MONDO:0003717 True renal pelvis urothelial papilloma renal pelvis papillary tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003777 MONDO:0003717 True renal pelvis urothelial papilloma renal pelvis papillary tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003777 MONDO:0004041 True renal pelvis urothelial papilloma urothelial papilloma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003777 MONDO:0021467 True renal pelvis urothelial papilloma benign neoplasm of renal pelvis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003781 MONDO:0001358 True bronchitis bronchial disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003780 MONDO:0021094 True T-cell immunodeficiency immunodeficiency disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0003782 MONDO:0003356 True uterine corpus epithelioid leiomyosarcoma epithelioid leiomyosarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003782 MONDO:0016262 True uterine corpus epithelioid leiomyosarcoma leiomyosarcoma of the corpus uteri UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0003783 MONDO:0003785 True lymphopenia leukopenia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003782 MONDO:0016262 True uterine corpus epithelioid leiomyosarcoma leiomyosarcoma of the corpus uteri UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003784 MONDO:0003212 True nasal cavity carcinoma in situ nasal cavity carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003784 MONDO:0004647 True nasal cavity carcinoma in situ in situ carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0003785 MONDO:0004805 True leukopenia leukocyte disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0003786 MONDO:0003508 True childhood testicular choriocarcinoma choriocarcinoma of testis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003786 MONDO:0003508 True childhood testicular choriocarcinoma choriocarcinoma of testis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003786 MONDO:0003758 True childhood testicular choriocarcinoma childhood testicular germ cell tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003786 MONDO:0004479 True childhood testicular choriocarcinoma malignant childhood germ cell neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003787 MONDO:0003120 True childhood testicular mixed germ cell cancer mixed testicular germ cell cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003787 MONDO:0003120 True childhood testicular mixed germ cell cancer mixed testicular germ cell cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003787 MONDO:0003758 True childhood testicular mixed germ cell cancer childhood testicular germ cell tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003787 MONDO:0004479 True childhood testicular mixed germ cell cancer malignant childhood germ cell neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003788 MONDO:0003758 True childhood embryonal testis carcinoma childhood testicular germ cell tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003788 MONDO:0004479 True childhood embryonal testis carcinoma malignant childhood germ cell neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003788 MONDO:0006446 True childhood embryonal testis carcinoma testicular embryonal carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0003789 MONDO:0003008 True hereditary papillary renal cell carcinoma hereditary renal cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003788 MONDO:0006446 True childhood embryonal testis carcinoma testicular embryonal carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003789 MONDO:0003008 True hereditary papillary renal cell carcinoma hereditary renal cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003789 MONDO:0017884 True hereditary papillary renal cell carcinoma papillary renal cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003790 MONDO:0002834 True prostatic urethra urothelial carcinoma primary prostate urothelial carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003790 MONDO:0002836 True prostatic urethra urothelial carcinoma urethra transitional cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003790 MONDO:0003791 True prostatic urethra urothelial carcinoma prostatic urethral cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0003791 MONDO:0004197 True prostatic urethral cancer male urethral cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003790 MONDO:0003791 True prostatic urethra urothelial carcinoma prostatic urethral cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003791 MONDO:0004197 True prostatic urethral cancer male urethral cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003792 MONDO:0002928 True ovarian carcinosarcoma carcinosarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003792 MONDO:0003812 True ovarian carcinosarcoma ovarian endometrial cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003795 MONDO:0005140 True ovarian small cell carcinoma ovarian carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0003796 MONDO:0002168 True rectum Kaposi sarcoma rectum sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003795 MONDO:0005140 True ovarian small cell carcinoma ovarian carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003796 MONDO:0002168 True rectum Kaposi sarcoma rectum sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003796 MONDO:0024659 True rectum Kaposi sarcoma colorectal Kaposi sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003799 MONDO:0006170 True conjunctivitis conjunctival disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003799 MONDO:0006170 True conjunctivitis conjunctival disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003800 MONDO:0009330 True conventional malignant hemangiopericytoma hemangiopericytoma, malignant UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0003801 MONDO:0021238 True corneal intraepithelial neoplasm cornea neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0003801 MONDO:0024475 True corneal intraepithelial neoplasm squamous cell intraepithelial neoplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003802 MONDO:0002236 True cornea cancer ocular cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003802 MONDO:0002236 True cornea cancer ocular cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003802 MONDO:0021238 True cornea cancer cornea neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003803 MONDO:0002869 True aortic valve disorder heart valve disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0003803 MONDO:0005561 True aortic valve disorder aortic disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0003805 MONDO:0001322 True malignant pericardial mesothelioma pericardium cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003803 MONDO:0002869 True aortic valve disorder heart valve disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003805 MONDO:0001322 True malignant pericardial mesothelioma pericardium cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003805 MONDO:0006292 True malignant pericardial mesothelioma malignant mesothelioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003806 MONDO:0015074 True thyroid hyalinizing trabecular adenoma thyroid tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0003808 MONDO:0002621 True mediastinal extraskeletal osteosarcoma extraosseous osteosarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003808 MONDO:0002852 True mediastinal extraskeletal osteosarcoma mediastinum sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003808 MONDO:0002852 True mediastinal extraskeletal osteosarcoma mediastinum sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003809 MONDO:0009330 True malignant mediastinum hemangiopericytoma hemangiopericytoma, malignant UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003810 MONDO:0003386 True bladder diffuse clear cell adenocarcinoma bladder clear cell adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003810 MONDO:0003386 True bladder diffuse clear cell adenocarcinoma bladder clear cell adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003811 MONDO:0002229 True ovarian seromucinous tumor ovarian epithelial tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003812 MONDO:0002480 True ovarian endometrial cancer endometrioid tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003812 MONDO:0002480 True ovarian endometrial cancer endometrioid tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003812 MONDO:0018364 True ovarian endometrial cancer malignant epithelial tumor of ovary UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003813 MONDO:0002229 True ovarian papillary tumor ovarian epithelial tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003813 MONDO:0002229 True ovarian papillary tumor ovarian epithelial tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003813 MONDO:0021096 True ovarian papillary tumor papillary epithelial neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0003818 MONDO:0003819 True childhood mature teratoma of the ovary childhood teratoma of the ovary UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003818 MONDO:0003820 True childhood mature teratoma of the ovary mature ovarian teratoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003818 MONDO:0003820 True childhood mature teratoma of the ovary mature ovarian teratoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003819 MONDO:0003760 True childhood teratoma of the ovary pediatric ovarian germ cell tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003819 MONDO:0005602 True childhood teratoma of the ovary ovarian teratoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003819 MONDO:0005602 True childhood teratoma of the ovary ovarian teratoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003820 MONDO:0003517 True mature ovarian teratoma mature teratoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003820 MONDO:0003821 True mature ovarian teratoma ovarian biphasic or triphasic teratoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0003821 MONDO:0005602 True ovarian biphasic or triphasic teratoma ovarian teratoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0003822 MONDO:0003442 True non-invasive bladder papillary urothelial neoplasm bladder papillary urothelial neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003820 MONDO:0003821 True mature ovarian teratoma ovarian biphasic or triphasic teratoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003821 MONDO:0005602 True ovarian biphasic or triphasic teratoma ovarian teratoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003822 MONDO:0003442 True non-invasive bladder papillary urothelial neoplasm bladder papillary urothelial neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003822 MONDO:0003755 True non-invasive bladder papillary urothelial neoplasm urinary tract non-invasive transitional cell neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003824 MONDO:0003825 True hereditary kidney oncocytoma kidney oncocytoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0003825 MONDO:0002513 True kidney oncocytoma kidney benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003824 MONDO:0003825 True hereditary kidney oncocytoma kidney oncocytoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003825 MONDO:0002513 True kidney oncocytoma kidney benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003825 MONDO:0010795 True kidney oncocytoma oncocytic neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0003825 MONDO:0036976 True kidney oncocytoma benign epithelial neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0003826 MONDO:0003668 True mediastinum seminoma extragonadal seminoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003826 MONDO:0006298 True mediastinum seminoma mediastinal malignant germ cell tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003828 MONDO:0002109 True growth hormone-producing pituitary gland carcinoma pituitary cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0003829 MONDO:0002395 True chromophil adenoma of the kidney renal adenoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003827 MONDO:0016463 True transient hypogammaglobulinemia syndromic agammaglobulinemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0003828 MONDO:0002109 True growth hormone-producing pituitary gland carcinoma pituitary cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003829 MONDO:0002395 True chromophil adenoma of the kidney renal adenoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003829 MONDO:0002533 True chromophil adenoma of the kidney papillary adenoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003830 MONDO:0003829 True type 1 papillary adenoma of the kidney chromophil adenoma of the kidney UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0003831 MONDO:0003829 True type 2 papillary adenoma of the kidney chromophil adenoma of the kidney UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0003832 MONDO:0003778 True complement deficiency inborn error of immunity UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0003834 MONDO:0001063 True gastric cardia carcinoma cardia cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0003834 MONDO:0004950 True gastric cardia carcinoma gastric carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003832 MONDO:0021094 True complement deficiency immunodeficiency disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0003834 MONDO:0004950 True gastric cardia carcinoma gastric carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003835 MONDO:0003834 True gastric cardia adenocarcinoma gastric cardia carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003835 MONDO:0005036 True gastric cardia adenocarcinoma gastric adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003835 MONDO:0005036 True gastric cardia adenocarcinoma gastric adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003836 MONDO:0003837 True malignant thyroid stimulating hormone producing neoplasm of pituitary gland TSH producing pituitary tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003837 MONDO:0003429 True TSH producing pituitary tumor functioning pituitary gland adenoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0003839 MONDO:0002991 True ovarian mucinous adenocarcinofibroma adenocarcinofibroma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003839 MONDO:0024282 True ovarian mucinous adenocarcinofibroma mucinous ovarian cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003840 MONDO:0003841 True epicardium lipoma heart lipoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003840 MONDO:0003841 True epicardium lipoma heart lipoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003840 MONDO:0021508 True epicardium lipoma benign neoplasm of epicardium UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003841 MONDO:0005106 True heart lipoma lipoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003841 MONDO:0005106 True heart lipoma lipoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003841 MONDO:0021450 True heart lipoma benign neoplasm of heart UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0003842 MONDO:0002505 True childhood cerebellar astrocytic neoplasm childhood astrocytic tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003842 MONDO:0003165 True childhood cerebellar astrocytic neoplasm cerebellar astrocytoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003842 MONDO:0003165 True childhood cerebellar astrocytic neoplasm cerebellar astrocytoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003842 MONDO:0003263 True childhood cerebellar astrocytic neoplasm childhood cerebellar neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003843 MONDO:0003844 True cerebral hemisphere lipoma central nervous system lipoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003843 MONDO:0003844 True cerebral hemisphere lipoma central nervous system lipoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003843 MONDO:0021497 True cerebral hemisphere lipoma benign neoplasm of cerebrum UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003844 MONDO:0000628 True central nervous system lipoma central nervous system organ benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0003844 MONDO:0005106 True central nervous system lipoma lipoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0003845 MONDO:0003843 True corpus callosum lipoma cerebral hemisphere lipoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0003846 MONDO:0001409 True viral esophagitis esophagitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0003846 MONDO:0005108 True viral esophagitis viral infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0003848 MONDO:0003393 True ectopic thymus thymus gland disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0003849 MONDO:0002892 True clivus chordoma skull base chordoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0003850 MONDO:0003849 True clivus chondroid chordoma clivus chordoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003844 MONDO:0005106 True central nervous system lipoma lipoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003845 MONDO:0003843 True corpus callosum lipoma cerebral hemisphere lipoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003846 MONDO:0001409 True viral esophagitis esophagitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003846 MONDO:0005108 True viral esophagitis viral infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003846 MONDO:0043424 True viral esophagitis digestive system infectious disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0003848 MONDO:0003393 True ectopic thymus thymus gland disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003849 MONDO:0002892 True clivus chordoma skull base chordoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003850 MONDO:0003849 True clivus chondroid chordoma clivus chordoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003850 MONDO:0006145 True clivus chondroid chordoma chondroid chordoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003851 MONDO:0003820 True ovarian fetiform teratoma mature ovarian teratoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0003852 MONDO:0003820 True ovarian solid teratoma mature ovarian teratoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0003853 MONDO:0002829 True Bartholin gland adenocarcinoma bartholin gland carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003851 MONDO:0003820 True ovarian fetiform teratoma mature ovarian teratoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003852 MONDO:0003820 True ovarian solid teratoma mature ovarian teratoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003853 MONDO:0002829 True Bartholin gland adenocarcinoma bartholin gland carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003853 MONDO:0024336 True Bartholin gland adenocarcinoma vulvar adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003856 MONDO:0009330 True adult malignant hemangiopericytoma hemangiopericytoma, malignant UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0003857 MONDO:0037740 True adult intracranial malignant hemangiopericytoma malignant central nervous system mesenchymal, non-meningothelial neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0003858 MONDO:0024648 True anterior optic tract meningioma optic tract meningioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003859 MONDO:0002640 True bilateral meningioma of optic nerve optic nerve neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003859 MONDO:0002640 True bilateral meningioma of optic nerve optic nerve neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003859 MONDO:0024648 True bilateral meningioma of optic nerve optic tract meningioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003860 MONDO:0000642 True cerebellopontine angle meningioma brain meningioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0003860 MONDO:0002553 True cerebellopontine angle meningioma cerebellopontine angle tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003860 MONDO:0002553 True cerebellopontine angle meningioma cerebellopontine angle tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003861 MONDO:0024240 True vulvar eccrine adenocarcinoma eccrine carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003861 MONDO:0024336 True vulvar eccrine adenocarcinoma vulvar adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0003862 MONDO:0003863 True melanotic psammomatous malignant peripheral nerve sheath tumor malignant melanocytic neoplasm of the peripheral nerve sheath UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0003863 MONDO:0017827 True malignant melanocytic neoplasm of the peripheral nerve sheath malignant peripheral nerve sheath tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0003864 MONDO:0004948 True chronic lymphocytic leukemia/small lymphocytic lymphoma B-cell chronic lymphocytic leukemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0003865 MONDO:0005012 True acral lentiginous melanoma cutaneous melanoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003861 MONDO:0024336 True vulvar eccrine adenocarcinoma vulvar adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003862 MONDO:0003863 True melanotic psammomatous malignant peripheral nerve sheath tumor malignant melanocytic neoplasm of the peripheral nerve sheath UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003863 MONDO:0017827 True malignant melanocytic neoplasm of the peripheral nerve sheath malignant peripheral nerve sheath tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003865 MONDO:0005012 True acral lentiginous melanoma cutaneous melanoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003866 MONDO:0002397 True liver extraskeletal osteosarcoma liver sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003866 MONDO:0002621 True liver extraskeletal osteosarcoma extraosseous osteosarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003867 MONDO:0003222 True diffuse meningeal melanocytosis central nervous system melanocytic neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0003868 MONDO:0003109 True anterior foramen magnum meningioma foramen magnum meningioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003867 MONDO:0003222 True diffuse meningeal melanocytosis central nervous system melanocytic neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003868 MONDO:0003109 True anterior foramen magnum meningioma foramen magnum meningioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003869 MONDO:0002911 True childhood brain stem glioma brain stem glioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003869 MONDO:0002914 True childhood brain stem glioma childhood brain stem neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003869 MONDO:0002914 True childhood brain stem glioma childhood brain stem neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003870 MONDO:0002505 True childhood brainstem astrocytoma childhood astrocytic tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003870 MONDO:0003173 True childhood brainstem astrocytoma brain stem astrocytic neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003870 MONDO:0003869 True childhood brainstem astrocytoma childhood brain stem glioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0003872 MONDO:0003813 True ovarian papillary cystadenoma ovarian papillary tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003870 MONDO:0003869 True childhood brainstem astrocytoma childhood brain stem glioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003872 MONDO:0003813 True ovarian papillary cystadenoma ovarian papillary tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003872 MONDO:0005183 True ovarian papillary cystadenoma ovarian cystadenoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003873 MONDO:0000646 True ovarian surface papilloma ovarian benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003873 MONDO:0002362 True ovarian surface papilloma serous surface papilloma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003873 MONDO:0003813 True ovarian surface papilloma ovarian papillary tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003873 MONDO:0003813 True ovarian surface papilloma ovarian papillary tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003874 MONDO:0002512 True ovarian serous surface papillary adenocarcinoma papillary adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003874 MONDO:0003813 True ovarian serous surface papillary adenocarcinoma ovarian papillary tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003874 MONDO:0005211 True ovarian serous surface papillary adenocarcinoma ovarian serous adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003875 MONDO:0003733 True childhood central nervous system mature teratoma central nervous system mature teratoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003875 MONDO:0003733 True childhood central nervous system mature teratoma central nervous system mature teratoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003875 MONDO:0003750 True childhood central nervous system mature teratoma childhood central nervous system germ cell tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003876 MONDO:0002466 True eyelid carcinoma eye carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003876 MONDO:0002656 True eyelid carcinoma skin carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0003876 MONDO:0021313 True eyelid carcinoma eyelid cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0003878 MONDO:0006486 True malignant choroid melanoma uveal melanoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003878 MONDO:0006700 True malignant choroid melanoma choroid cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0003879 MONDO:0008170 True ovarian endometrioid adenocarcinofibroma ovarian cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003878 MONDO:0006700 True malignant choroid melanoma choroid cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003880 MONDO:0002944 True ceruminous carcinoma external ear carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003880 MONDO:0003214 True ceruminous carcinoma apocrine adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003880 MONDO:0003214 True ceruminous carcinoma apocrine adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003881 MONDO:0003214 True vulvar apocrine adenocarcinoma apocrine adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003881 MONDO:0024336 True vulvar apocrine adenocarcinoma vulvar adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0003882 MONDO:0002217 True central nervous system fibrosarcoma central nervous system sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0003882 MONDO:0005164 True central nervous system fibrosarcoma fibrosarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003881 MONDO:0024336 True vulvar apocrine adenocarcinoma vulvar adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003882 MONDO:0002217 True central nervous system fibrosarcoma central nervous system sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003882 MONDO:0005164 True central nervous system fibrosarcoma fibrosarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003884 MONDO:0003885 True lipoma of the rectum colorectal lipoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003884 MONDO:0021462 True lipoma of the rectum benign neoplasm of rectum UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003885 MONDO:0005106 True colorectal lipoma lipoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003885 MONDO:0005106 True colorectal lipoma lipoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003885 MONDO:0021444 True colorectal lipoma benign neoplasm of large intestine UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0003886 MONDO:0002398 True mucinous cystadenofibroma mucinous adenofibroma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003886 MONDO:0003464 True mucinous cystadenofibroma cystadenofibroma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0003887 MONDO:0000646 True ovarian mucinous adenofibroma ovarian benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003886 MONDO:0003464 True mucinous cystadenofibroma cystadenofibroma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003887 MONDO:0000646 True ovarian mucinous adenofibroma ovarian benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003887 MONDO:0002229 True ovarian mucinous adenofibroma ovarian epithelial tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003887 MONDO:0002398 True ovarian mucinous adenofibroma mucinous adenofibroma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003888 MONDO:0003787 True childhood testicular mixed embryonal carcinoma and teratoma childhood testicular mixed germ cell cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0003889 MONDO:0003890 True infiltrating bladder urothelial carcinoma, clear cell variant infiltrating bladder urothelial carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0003890 MONDO:0005611 True infiltrating bladder urothelial carcinoma bladder transitional cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003888 MONDO:0003787 True childhood testicular mixed embryonal carcinoma and teratoma childhood testicular mixed germ cell cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003889 MONDO:0003890 True infiltrating bladder urothelial carcinoma, clear cell variant infiltrating bladder urothelial carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003890 MONDO:0005611 True infiltrating bladder urothelial carcinoma bladder transitional cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003890 MONDO:0040678 True infiltrating bladder urothelial carcinoma infiltrating urothelial carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003891 MONDO:0002751 True bladder signet ring cell adenocarcinoma bladder adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003891 MONDO:0002751 True bladder signet ring cell adenocarcinoma bladder adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003891 MONDO:0005092 True bladder signet ring cell adenocarcinoma signet ring cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003892 MONDO:0005061 True acinar lung adenocarcinoma lung adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003892 MONDO:0005061 True acinar lung adenocarcinoma lung adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003893 MONDO:0003562 True rete testis adenoma rete testis neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003893 MONDO:0004972 True rete testis adenoma adenoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0003894 MONDO:0002558 True mediastinal melanocytic neurilemmoma melanotic neurilemmoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0003895 MONDO:0002628 True periosteal osteogenic sarcoma peripheral osteosarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003894 MONDO:0002558 True mediastinal melanocytic neurilemmoma melanotic neurilemmoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003895 MONDO:0002628 True periosteal osteogenic sarcoma peripheral osteosarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003896 MONDO:0002407 True breast capillary hemangioma capillary hemangioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003896 MONDO:0003126 True breast capillary hemangioma breast hemangioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0003897 MONDO:0003126 True breast epithelioid hemangioma breast hemangioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003896 MONDO:0003126 True breast capillary hemangioma breast hemangioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003897 MONDO:0003126 True breast epithelioid hemangioma breast hemangioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003897 MONDO:0021169 True breast epithelioid hemangioma epithelioid hemangioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003898 MONDO:0003681 True pediatric myxoid chondrosarcoma myxoid chondrosarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0003898 MONDO:0006517 True pediatric myxoid chondrosarcoma childhood malignant neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0003901 MONDO:0016748 True cerebellar hemangioblastoma hemangioblastoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003902 MONDO:0016748 True brain stem hemangioblastoma hemangioblastoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003903 MONDO:0001731 True benign vaginal mixed tumor benign vaginal mixed epithelial and mesenchymal neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0003904 MONDO:0005097 True lung occult squamous cell carcinoma squamous cell lung carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0003905 MONDO:0006344 True ovarian yolk sac tumor, glandular pattern ovarian yolk sac tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0003906 MONDO:0006344 True ovarian yolk sac tumor, hepatoid pattern ovarian yolk sac tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0003907 MONDO:0006344 True ovarian yolk sac tumor, polyvesicular vitelline pattern ovarian yolk sac tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0003908 MONDO:0002919 True clivus meningioma posterior cranial fossa meningioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0003908 MONDO:0002998 True clivus meningioma skull base meningioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0003909 MONDO:0002193 True Bartholin gland adenomyoma Bartholin gland benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003903 MONDO:0001731 True benign vaginal mixed tumor benign vaginal mixed epithelial and mesenchymal neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003904 MONDO:0005097 True lung occult squamous cell carcinoma squamous cell lung carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003905 MONDO:0006344 True ovarian yolk sac tumor, glandular pattern ovarian yolk sac tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003906 MONDO:0006344 True ovarian yolk sac tumor, hepatoid pattern ovarian yolk sac tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003907 MONDO:0006344 True ovarian yolk sac tumor, polyvesicular vitelline pattern ovarian yolk sac tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003908 MONDO:0002919 True clivus meningioma posterior cranial fossa meningioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003908 MONDO:0002998 True clivus meningioma skull base meningioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003909 MONDO:0002198 True Bartholin gland adenomyoma vulvar glandular neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003909 MONDO:0036976 True Bartholin gland adenomyoma benign epithelial neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003910 MONDO:0006486 True mixed cell uveal melanoma uveal melanoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0003911 MONDO:0003910 True ciliary body mixed cell melanoma mixed cell uveal melanoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003910 MONDO:0006486 True mixed cell uveal melanoma uveal melanoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003911 MONDO:0003910 True ciliary body mixed cell melanoma mixed cell uveal melanoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003911 MONDO:0003912 True ciliary body mixed cell melanoma malignant ciliary body melanoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003912 MONDO:0002969 True malignant ciliary body melanoma ciliary body cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0003913 MONDO:0003878 True choroid mixed cell melanoma malignant choroid melanoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003912 MONDO:0002969 True malignant ciliary body melanoma ciliary body cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003913 MONDO:0003878 True choroid mixed cell melanoma malignant choroid melanoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003913 MONDO:0003910 True choroid mixed cell melanoma mixed cell uveal melanoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003915 MONDO:0016974 True cortical thymoma thymoma type B UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0003916 MONDO:0005137 True overnutrition nutritional disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0003917 MONDO:0001340 True heart lymphoma heart cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0003917 MONDO:0005062 True heart lymphoma lymphoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0003918 MONDO:0016642 True angiomatous meningioma meningioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0003921 MONDO:0003109 True posterior foramen magnum meningioma foramen magnum meningioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003915 MONDO:0016974 True cortical thymoma thymoma type B UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003917 MONDO:0001340 True heart lymphoma heart cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003917 MONDO:0005062 True heart lymphoma lymphoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003918 MONDO:0016642 True angiomatous meningioma meningioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003921 MONDO:0003109 True posterior foramen magnum meningioma foramen magnum meningioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003922 MONDO:0000548 True ovarian clear cell malignant adenofibroma ovarian clear cell cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003923 MONDO:0006353 True ethmoid sinus Schneiderian papilloma paranasal sinus Schneiderian papilloma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0003923 MONDO:0021515 True ethmoid sinus Schneiderian papilloma benign neoplasm of ethmoidal sinus UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003924 MONDO:0004972 True adrenal cortex adenoma adenoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003924 MONDO:0004972 True adrenal cortex adenoma adenoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003924 MONDO:0021511 True adrenal cortex adenoma benign neoplasm of adrenal gland UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0003924 MONDO:0036591 True adrenal cortex adenoma adrenal cortex neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0003924 MONDO:0036976 True adrenal cortex adenoma benign epithelial neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0003925 MONDO:0002537 True ethmoid sinus inverted papilloma inverted papilloma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003925 MONDO:0003923 True ethmoid sinus inverted papilloma ethmoid sinus Schneiderian papilloma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003926 MONDO:0004820 True neurilemmoma of the pleura peripheral nerve schwannoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0003927 MONDO:0006486 True posterior uveal melanoma uveal melanoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003926 MONDO:0004820 True neurilemmoma of the pleura peripheral nerve schwannoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003928 MONDO:0003359 True uterine corpus myxoid leiomyosarcoma myxoid leiomyosarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003928 MONDO:0016262 True uterine corpus myxoid leiomyosarcoma leiomyosarcoma of the corpus uteri UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0003929 MONDO:0002194 True vestibular micropapillomatosis vestibular papilloma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0003930 MONDO:0005611 True non-invasive bladder urothelial carcinoma bladder transitional cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003928 MONDO:0016262 True uterine corpus myxoid leiomyosarcoma leiomyosarcoma of the corpus uteri UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003929 MONDO:0002194 True vestibular micropapillomatosis vestibular papilloma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003931 MONDO:0024649 True childhood optic tract astrocytoma optic tract astrocytoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003932 MONDO:0003235 True childhood optic nerve glioma optic nerve glioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0003932 MONDO:0021079 True childhood optic nerve glioma childhood neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003933 MONDO:0002129 True chest wall bone cancer bone cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003933 MONDO:0002129 True chest wall bone cancer bone cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003933 MONDO:0021323 True chest wall bone cancer malignant neoplasm of chest wall UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0003934 MONDO:0003214 True breast apocrine carcinoma apocrine adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003935 MONDO:0004988 True oncocytic breast carcinoma breast adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003935 MONDO:0004988 True oncocytic breast carcinoma breast adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003935 MONDO:0006256 True oncocytic breast carcinoma invasive breast carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0003936 MONDO:0005606 True invasive tubular breast carcinoma tubular adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003938 MONDO:0002751 True bladder colonic type adenocarcinoma bladder adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0003939 MONDO:0002081 True muscle tissue disorder musculoskeletal system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0003940 MONDO:0005095 True Kummell disease spondyloarthropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0003941 MONDO:0017885 True classic variant of chromophobe renal cell carcinoma chromophobe renal cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0003942 MONDO:0017885 True eosinophilic variant of chromophobe renal cell carcinoma chromophobe renal cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0003943 MONDO:0003844 True central nervous system hibernoma central nervous system lipoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003938 MONDO:0002751 True bladder colonic type adenocarcinoma bladder adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003941 MONDO:0017885 True classic variant of chromophobe renal cell carcinoma chromophobe renal cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003942 MONDO:0017885 True eosinophilic variant of chromophobe renal cell carcinoma chromophobe renal cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003943 MONDO:0003844 True central nervous system hibernoma central nervous system lipoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003943 MONDO:0021168 True central nervous system hibernoma hibernoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003944 MONDO:0003293 True endobronchial leiomyoma lung leiomyoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003944 MONDO:0003293 True endobronchial leiomyoma lung leiomyoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003945 MONDO:0021169 True bone epithelioid hemangioma epithelioid hemangioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003946 MONDO:0003434 True vaginal villous adenoma vaginal adenoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0003947 MONDO:0002468 True hyper-IgM syndrome hyperimmunoglobulin syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0003948 MONDO:0003428 True cerebral hemangioma brain hemangioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003946 MONDO:0003434 True vaginal villous adenoma vaginal adenoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003947 MONDO:0002468 True hyper-IgM syndrome hyperimmunoglobulin syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003948 MONDO:0003428 True cerebral hemangioma brain hemangioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003948 MONDO:0021497 True cerebral hemangioma benign neoplasm of cerebrum UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0003950 MONDO:0002482 True nipple carcinoma nipple neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003950 MONDO:0004989 True nipple carcinoma breast carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003950 MONDO:0004989 True nipple carcinoma breast carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003951 MONDO:0003110 True scrotal hemangioma skin hemangioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003951 MONDO:0021472 True scrotal hemangioma benign neoplasm of scrotum UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0003952 MONDO:0003405 True adult central nervous system choriocarcinoma adult central nervous system germ cell tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS @@ -3750,190 +2580,171 @@ MONDO:0003952 MONDO:0016740 True adult central nervous system choriocarcinoma ch MONDO:0003953 MONDO:0003750 True pediatric CNS choriocarcinoma childhood central nervous system germ cell tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003953 MONDO:0004479 True pediatric CNS choriocarcinoma malignant childhood germ cell neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003953 MONDO:0016740 True pediatric CNS choriocarcinoma choriocarcinoma of the central nervous system UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003956 MONDO:0005381 True Baastrup syndrome bone disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0003957 MONDO:0003248 True adult pineoblastoma adult pineal parenchymal tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003955 MONDO:0004253 True juvenile breast papillomatosis intraductal breast papillomatosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003957 MONDO:0003248 True adult pineoblastoma adult pineal parenchymal tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003957 MONDO:0016722 True adult pineoblastoma pineoblastoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003958 MONDO:0003735 True childhood central nervous system immature teratoma central nervous system immature teratoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003958 MONDO:0003735 True childhood central nervous system immature teratoma central nervous system immature teratoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003958 MONDO:0003750 True childhood central nervous system immature teratoma childhood central nervous system germ cell tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003959 MONDO:0002485 True breast large cell neuroendocrine carcinoma breast neuroendocrine neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003959 MONDO:0005057 True breast large cell neuroendocrine carcinoma large cell neuroendocrine carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003959 MONDO:0006256 True breast large cell neuroendocrine carcinoma invasive breast carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003960 MONDO:0003050 True pulmonary large cell neuroendocrine carcinoma lung large cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0003960 MONDO:0005057 True pulmonary large cell neuroendocrine carcinoma large cell neuroendocrine carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003960 MONDO:0005454 True pulmonary large cell neuroendocrine carcinoma lung neuroendocrine neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003962 MONDO:0002150 True Froelich syndrome hypothalamic disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0003963 MONDO:0002254 True diffuse infiltrative lymphocytosis syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0003964 MONDO:0021167 True myositis ossificans myositis disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0003965 MONDO:0004359 True Capgras syndrome delusional disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0003966 MONDO:0003508 True testicular monophasic choriocarcinoma choriocarcinoma of testis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0003967 MONDO:0002622 True synchronous multifocal osteogenic sarcoma multifocal osteogenic sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0003968 MONDO:0002622 True asynchronous multifocal osteogenic sarcoma multifocal osteogenic sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0003969 MONDO:0002491 True amphetamine abuse substance abuse UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0003970 MONDO:0004950 True gastric fundus carcinoma gastric carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0003971 MONDO:0004950 True gastric pylorus carcinoma gastric carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0003972 MONDO:0004950 True gastric body carcinoma gastric carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0003973 MONDO:0003669 True tubular variant testicular seminoma testicular seminoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003962 MONDO:0002254 True Froelich syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003963 MONDO:0002254 True diffuse infiltrative lymphocytosis syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003965 MONDO:0002254 True Capgras syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003966 MONDO:0003508 True testicular monophasic choriocarcinoma choriocarcinoma of testis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003967 MONDO:0002622 True synchronous multifocal osteogenic sarcoma multifocal osteogenic sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003968 MONDO:0002622 True asynchronous multifocal osteogenic sarcoma multifocal osteogenic sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003970 MONDO:0004950 True gastric fundus carcinoma gastric carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003971 MONDO:0004950 True gastric pylorus carcinoma gastric carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003972 MONDO:0004950 True gastric body carcinoma gastric carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003973 MONDO:0003669 True tubular variant testicular seminoma testicular seminoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003975 MONDO:0004197 True Littre gland carcinoma male urethral cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003975 MONDO:0021327 True Littre gland carcinoma carcinoma of urethra UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003976 MONDO:0016975 True malignant type AB thymoma thymoma type AB UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003976 MONDO:0016975 True malignant type AB thymoma thymoma type AB UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003978 MONDO:0000402 True colon small cell neuroendocrine carcinoma small cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003978 MONDO:0002032 True colon small cell neuroendocrine carcinoma colon carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003978 MONDO:0002882 True colon small cell neuroendocrine carcinoma colon neuroendocrine neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003979 MONDO:0003420 True intrahepatic bile duct cystadenoma bile duct cystadenoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0003980 MONDO:0004820 True schwannoma of jugular foramen peripheral nerve schwannoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0003982 MONDO:0004989 True bilateral breast carcinoma breast carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0003983 MONDO:0003982 True synchronous bilateral breast carcinoma bilateral breast carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0003984 MONDO:0005106 True internal auditory canal lipoma lipoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003979 MONDO:0003420 True intrahepatic bile duct cystadenoma bile duct cystadenoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003980 MONDO:0004820 True schwannoma of jugular foramen peripheral nerve schwannoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003982 MONDO:0004989 True bilateral breast carcinoma breast carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003983 MONDO:0003982 True synchronous bilateral breast carcinoma bilateral breast carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003984 MONDO:0005106 True internal auditory canal lipoma lipoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003984 MONDO:0021474 True internal auditory canal lipoma benign neoplasm of ear UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0003984 MONDO:0024320 True internal auditory canal lipoma inner ear neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003985 MONDO:0005062 True chest wall lymphoma lymphoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003985 MONDO:0005062 True chest wall lymphoma lymphoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003985 MONDO:0021323 True chest wall lymphoma malignant neoplasm of chest wall UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003987 MONDO:0005062 True lung lymphoma lymphoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0003987 MONDO:0008903 True lung lymphoma lung cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0003988 MONDO:0003273 True sternum lymphoma sternum cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003987 MONDO:0005062 True lung lymphoma lymphoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003987 MONDO:0008903 True lung lymphoma lung cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003988 MONDO:0003273 True sternum lymphoma sternum cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003989 MONDO:0015863 True polyembryoma of the ovary polyembryoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0003989 MONDO:0016096 True polyembryoma of the ovary malignant non-dysgerminomatous germ cell tumor of ovary UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0003990 MONDO:0002483 True malignant breast myoepithelioma breast myoepithelial tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003990 MONDO:0003158 True malignant breast myoepithelioma malignant myoepithelioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003990 MONDO:0006256 True malignant breast myoepithelioma invasive breast carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0003991 MONDO:0003204 True villoglandular endometrial endometrioid adenocarcinoma villous adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003991 MONDO:0005461 True villoglandular endometrial endometrioid adenocarcinoma endometrium adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003991 MONDO:0005461 True villoglandular endometrial endometrioid adenocarcinoma endometrium adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003991 MONDO:0006192 True villoglandular endometrial endometrioid adenocarcinoma endometrial endometrioid adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003992 MONDO:0002578 True childhood botryoid rhabdomyosarcoma botryoid rhabdomyosarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003992 MONDO:0002578 True childhood botryoid rhabdomyosarcoma botryoid rhabdomyosarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003992 MONDO:0006517 True childhood botryoid rhabdomyosarcoma childhood malignant neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0003993 MONDO:0003992 True childhood vagina botryoid rhabdomyosarcoma childhood botryoid rhabdomyosarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003993 MONDO:0003994 True childhood vagina botryoid rhabdomyosarcoma botryoid-type embryonal rhabdomyosarcoma of the vagina UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0003994 MONDO:0002578 True botryoid-type embryonal rhabdomyosarcoma of the vagina botryoid rhabdomyosarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003993 MONDO:0003994 True childhood vagina botryoid rhabdomyosarcoma botryoid-type embryonal rhabdomyosarcoma of the vagina UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003994 MONDO:0002578 True botryoid-type embryonal rhabdomyosarcoma of the vagina botryoid rhabdomyosarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003994 MONDO:0016095 True botryoid-type embryonal rhabdomyosarcoma of the vagina vaginal rhabdomyosarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0003995 MONDO:0003992 True vulvar childhood botryoid-type embryonal rhabdomyosarcoma childhood botryoid rhabdomyosarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003995 MONDO:0005214 True vulvar childhood botryoid-type embryonal rhabdomyosarcoma vulva sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0003996 MONDO:0005560 True basal ganglia disorder brain disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0003997 MONDO:0003352 True colon Kaposi sarcoma colon sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003995 MONDO:0005214 True vulvar childhood botryoid-type embryonal rhabdomyosarcoma vulva sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003997 MONDO:0003352 True colon Kaposi sarcoma colon sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003997 MONDO:0024659 True colon Kaposi sarcoma colorectal Kaposi sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0003999 MONDO:0004000 True juvenile pilocytic astrocytoma childhood pilocytic astrocytoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004000 MONDO:0002505 True childhood pilocytic astrocytoma childhood astrocytic tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004000 MONDO:0016691 True childhood pilocytic astrocytoma pilocytic astrocytoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0004005 MONDO:0003192 True rete ovarii adenoma rete ovarii neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004000 MONDO:0016691 True childhood pilocytic astrocytoma pilocytic astrocytoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004001 MONDO:0002254 True compartment syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004005 MONDO:0003192 True rete ovarii adenoma rete ovarii neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004005 MONDO:0024276 True rete ovarii adenoma glandular cell neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004006 MONDO:0003192 True rete ovarii cystadenofibroma rete ovarii neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004006 MONDO:0003192 True rete ovarii cystadenofibroma rete ovarii neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004006 MONDO:0003464 True rete ovarii cystadenofibroma cystadenofibroma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004007 MONDO:0002488 True breast intraductal proliferative lesion intraductal breast neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0004008 MONDO:0004007 True flat ductal epithelial atypia breast intraductal proliferative lesion UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004007 MONDO:0002488 True breast intraductal proliferative lesion intraductal breast neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004008 MONDO:0004007 True flat ductal epithelial atypia breast intraductal proliferative lesion UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004009 MONDO:0002837 True kidney pelvis sarcomatoid transitional cell carcinoma sarcomatoid transitional cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004009 MONDO:0005221 True kidney pelvis sarcomatoid transitional cell carcinoma renal pelvis urothelial carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004010 MONDO:0040678 True infiltrating renal pelvis/ureter urothelial carcinoma infiltrating urothelial carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004012 MONDO:0002578 True adult botryoid rhabdomyosarcoma botryoid rhabdomyosarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0004013 MONDO:0003994 True adult vagina botryoid embryonal rhabdomyosarcoma botryoid-type embryonal rhabdomyosarcoma of the vagina UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004012 MONDO:0002578 True adult botryoid rhabdomyosarcoma botryoid rhabdomyosarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004013 MONDO:0003994 True adult vagina botryoid embryonal rhabdomyosarcoma botryoid-type embryonal rhabdomyosarcoma of the vagina UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004013 MONDO:0004012 True adult vagina botryoid embryonal rhabdomyosarcoma adult botryoid rhabdomyosarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004014 MONDO:0001764 True ethmoid sinus ectopic meningioma ethmoidal sinus neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004014 MONDO:0001764 True ethmoid sinus ectopic meningioma ethmoidal sinus neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004015 MONDO:0002718 True pineal region teratoma central nervous system teratoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004015 MONDO:0021232 True pineal region teratoma pineal body neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0004016 MONDO:0003733 True pineal region mature teratoma central nervous system mature teratoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004016 MONDO:0004015 True pineal region mature teratoma pineal region teratoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0004017 MONDO:0002073 True pineal region immature teratoma malignant pineal area germ cell neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004016 MONDO:0004015 True pineal region mature teratoma pineal region teratoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004017 MONDO:0003735 True pineal region immature teratoma central nervous system immature teratoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004017 MONDO:0004015 True pineal region immature teratoma pineal region teratoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004017 MONDO:0004015 True pineal region immature teratoma pineal region teratoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004017 MONDO:0024746 True pineal region immature teratoma immature teratoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004019 MONDO:0005461 True oxyphilic endometrial endometrioid adenocarcinoma endometrium adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004019 MONDO:0005461 True oxyphilic endometrial endometrioid adenocarcinoma endometrium adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004019 MONDO:0006192 True oxyphilic endometrial endometrioid adenocarcinoma endometrial endometrioid adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004020 MONDO:0003658 True mediastinal gray zone lymphoma B-cell lymphoma, unclassifiable, with features intermediate between diffuse large b-cell lymphoma and classical Hodgkin lymphoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0004020 MONDO:0004021 True mediastinal gray zone lymphoma mediastinal malignant lymphoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0004021 MONDO:0005062 True mediastinal malignant lymphoma lymphoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0004021 MONDO:0005843 True mediastinal malignant lymphoma mediastinal cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0004022 MONDO:0003772 True parasagittal meningioma cerebral meningioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004020 MONDO:0003658 True mediastinal gray zone lymphoma B-cell lymphoma, unclassifiable, with features intermediate between diffuse large b-cell lymphoma and classical Hodgkin lymphoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004020 MONDO:0004021 True mediastinal gray zone lymphoma mediastinal malignant lymphoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004021 MONDO:0005062 True mediastinal malignant lymphoma lymphoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004021 MONDO:0005843 True mediastinal malignant lymphoma mediastinal cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004022 MONDO:0003772 True parasagittal meningioma cerebral meningioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004024 MONDO:0002749 True spinal cord neuroblastoma extracranial neuroblastoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004024 MONDO:0003544 True spinal cord neuroblastoma spinal cord cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0004026 MONDO:0006603 True skin tag reactive cutaneous fibrous lesion UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0004028 MONDO:0003361 True small intestinal fibrosarcoma small intestinal sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0004028 MONDO:0005164 True small intestinal fibrosarcoma fibrosarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0004030 MONDO:0006481 True ureter transitional cell carcinoma ureter carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004024 MONDO:0003544 True spinal cord neuroblastoma spinal cord cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004026 MONDO:0060765 True skin tag fibroepithelial polyp UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0004028 MONDO:0003361 True small intestinal fibrosarcoma small intestinal sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004028 MONDO:0005164 True small intestinal fibrosarcoma fibrosarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004030 MONDO:0006481 True ureter transitional cell carcinoma ureter carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004030 MONDO:0020654 True ureter transitional cell carcinoma renal pelvis/ureter urothelial carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004031 MONDO:0005140 True ovary mixed epithelial carcinoma ovarian carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0004032 MONDO:0003811 True ovarian seromucinous carcinoma ovarian seromucinous tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0004032 MONDO:0005853 True ovarian seromucinous carcinoma malignant mixed neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0004032 MONDO:0018364 True ovarian seromucinous carcinoma malignant epithelial tumor of ovary UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004034 MONDO:0002236 True eye lymphoma ocular cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0004034 MONDO:0005062 True eye lymphoma lymphoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0004035 MONDO:0003342 True glomangiomatosis benign perivascular tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0004037 MONDO:0005283 True retinal edema retinal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0004038 MONDO:0002220 True dental enamel hypoplasia tooth hard tissue disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0004039 MONDO:0002665 True papillary extrahepatic bile duct adenocarcinoma extrahepatic bile duct adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004034 MONDO:0002236 True eye lymphoma ocular cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004034 MONDO:0005062 True eye lymphoma lymphoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004035 MONDO:0003342 True glomangiomatosis benign perivascular tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004040 MONDO:0021109 True urinary bladder inverted papilloma inverted urothelial papilloma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0004040 MONDO:0044906 True urinary bladder inverted papilloma bladder urothelial papilloma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004041 MONDO:0003443 True urothelial papilloma papillary urothelial neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004041 MONDO:0003443 True urothelial papilloma papillary urothelial neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004041 MONDO:0003755 True urothelial papilloma urinary tract non-invasive transitional cell neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004041 MONDO:0004180 True urothelial papilloma benign urinary system neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004041 MONDO:0004180 True urothelial papilloma benign urinary system neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004041 MONDO:0005605 True urothelial papilloma transitional cell papilloma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004042 MONDO:0002221 True urethra inverted papilloma urethral urothelial papilloma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004042 MONDO:0002221 True urethra inverted papilloma urethral urothelial papilloma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004042 MONDO:0021109 True urethra inverted papilloma inverted urothelial papilloma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004043 MONDO:0004044 True ureter inverted papilloma ureter urothelial papilloma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004043 MONDO:0004044 True ureter inverted papilloma ureter urothelial papilloma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004043 MONDO:0021109 True ureter inverted papilloma inverted urothelial papilloma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004044 MONDO:0001398 True ureter urothelial papilloma ureter benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004044 MONDO:0001398 True ureter urothelial papilloma ureter benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004044 MONDO:0004041 True ureter urothelial papilloma urothelial papilloma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004045 MONDO:0003077 True pediatric intraocular retinoblastoma intraocular retinoblastoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004045 MONDO:0003077 True pediatric intraocular retinoblastoma intraocular retinoblastoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004045 MONDO:0006517 True pediatric intraocular retinoblastoma childhood malignant neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004046 MONDO:0000642 True childhood brain meningioma brain meningioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0004046 MONDO:0003057 True childhood brain meningioma pediatric meningioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004047 MONDO:0005289 True sphenoidal sinus neoplasm paranasal sinus neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0004048 MONDO:0003112 True immature gastric teratoma malignant gastric germ cell tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004047 MONDO:0005289 True sphenoidal sinus neoplasm paranasal sinus neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004048 MONDO:0003513 True immature gastric teratoma gastric teratoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004049 MONDO:0003763 True combat disorder acute stress disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0004050 MONDO:0002629 True telangiectatic osteogenic sarcoma bone osteosarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0004051 MONDO:0003729 True aleukemic monocytic leukemia cutis aleukemic leukemia cutis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004050 MONDO:0002629 True telangiectatic osteogenic sarcoma bone osteosarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004051 MONDO:0003729 True aleukemic monocytic leukemia cutis aleukemic leukemia cutis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004051 MONDO:0007896 True aleukemic monocytic leukemia cutis acute monocytic leukemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004052 MONDO:0018515 True rectal cloacogenic carcinoma squamous cell carcinoma of rectum UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0004053 MONDO:0002829 True bartholin gland squamous cell carcinoma bartholin gland carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004052 MONDO:0018515 True rectal cloacogenic carcinoma squamous cell carcinoma of rectum UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004053 MONDO:0002829 True bartholin gland squamous cell carcinoma bartholin gland carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004053 MONDO:0024609 True bartholin gland squamous cell carcinoma vulvar squamous cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004054 MONDO:0004055 True acute canaliculitis acute inflammation of lacrimal passage UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0004055 MONDO:0001854 True acute inflammation of lacrimal passage lacrimal apparatus disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0004056 MONDO:0003442 True bladder papillary urothelial carcinoma bladder papillary urothelial neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004056 MONDO:0005611 True bladder papillary urothelial carcinoma bladder transitional cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004056 MONDO:0005611 True bladder papillary urothelial carcinoma bladder transitional cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004056 MONDO:0006350 True bladder papillary urothelial carcinoma papillary transitional cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004057 MONDO:0003890 True micropapillary variant infiltrating bladder urothelial carcinoma infiltrating bladder urothelial carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0004058 MONDO:0001933 True pancreatic cholera endocrine pancreas disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0004059 MONDO:0002220 True dentin sensitivity tooth hard tissue disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0004060 MONDO:0017387 True peripheral epithelioid sarcoma epithelioid sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004057 MONDO:0003890 True micropapillary variant infiltrating bladder urothelial carcinoma infiltrating bladder urothelial carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004060 MONDO:0017387 True peripheral epithelioid sarcoma epithelioid sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004062 MONDO:0006486 True intermediate cell type uveal melanoma uveal melanoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004063 MONDO:0004062 True intermediate cell type iris melanoma intermediate cell type uveal melanoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0004063 MONDO:0004064 True intermediate cell type iris melanoma iris melanoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0004064 MONDO:0002658 True iris melanoma iris cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004063 MONDO:0004062 True intermediate cell type iris melanoma intermediate cell type uveal melanoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004063 MONDO:0004064 True intermediate cell type iris melanoma iris melanoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004064 MONDO:0002658 True iris melanoma iris cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004064 MONDO:0006486 True iris melanoma uveal melanoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004065 MONDO:0003878 True intermediate cell type choroid melanoma malignant choroid melanoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0004065 MONDO:0004062 True intermediate cell type choroid melanoma intermediate cell type uveal melanoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0004066 MONDO:0003912 True intermediate cell type ciliary body melanoma malignant ciliary body melanoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004065 MONDO:0003878 True intermediate cell type choroid melanoma malignant choroid melanoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004065 MONDO:0004062 True intermediate cell type choroid melanoma intermediate cell type uveal melanoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004066 MONDO:0003912 True intermediate cell type ciliary body melanoma malignant ciliary body melanoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004067 MONDO:0004957 True gallbladder mucinous adenocarcinoma mucinous adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004067 MONDO:0006215 True gallbladder mucinous adenocarcinoma gallbladder adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004069 MONDO:0019243 True inborn mitochondrial metabolism disorder inborn disorder of energy metabolism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0004071 MONDO:0002505 True childhood cerebral astrocytoma childhood astrocytic tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004071 MONDO:0002731 True childhood cerebral astrocytoma cerebral hemisphere cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0004071 MONDO:0021633 True childhood cerebral astrocytoma cerebral astrocytoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0004074 MONDO:0003886 True ovarian mucinous cystadenofibroma mucinous cystadenofibroma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004074 MONDO:0003887 True ovarian mucinous cystadenofibroma ovarian mucinous adenofibroma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0004075 MONDO:0005106 True infiltrating lipoma lipoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0004076 MONDO:0005106 True tendon sheath lipoma lipoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0004077 MONDO:0005106 True lumbosacral lipoma lipoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0004078 MONDO:0003210 True mucinous intrahepatic cholangiocarcinoma intrahepatic cholangiocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0004079 MONDO:0003427 True lung mucous gland adenoma bronchus adenoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0004080 MONDO:0002355 True glottis squamous cell carcinoma glottis carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004074 MONDO:0003887 True ovarian mucinous cystadenofibroma ovarian mucinous adenofibroma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004075 MONDO:0005106 True infiltrating lipoma lipoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004076 MONDO:0005106 True tendon sheath lipoma lipoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004077 MONDO:0005106 True lumbosacral lipoma lipoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004078 MONDO:0003210 True mucinous intrahepatic cholangiocarcinoma intrahepatic cholangiocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004080 MONDO:0002355 True glottis squamous cell carcinoma glottis carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004080 MONDO:0005595 True glottis squamous cell carcinoma laryngeal squamous cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004081 MONDO:0002665 True extrahepatic bile duct clear cell adenocarcinoma extrahepatic bile duct adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004081 MONDO:0005004 True extrahepatic bile duct clear cell adenocarcinoma clear cell adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004082 MONDO:0003819 True childhood immature teratoma of ovary childhood teratoma of the ovary UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004082 MONDO:0018369 True childhood immature teratoma of ovary immature ovarian teratoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004082 MONDO:0018369 True childhood immature teratoma of ovary immature ovarian teratoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004082 MONDO:0020577 True childhood immature teratoma of ovary childhood gonadal germ cell tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004083 MONDO:0002656 True Borst-Jadassohn intraepidermal carcinoma skin carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0004085 MONDO:0003878 True choroid epithelioid cell melanoma malignant choroid melanoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004085 MONDO:0003878 True choroid epithelioid cell melanoma malignant choroid melanoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004085 MONDO:0006200 True choroid epithelioid cell melanoma epithelioid cell uveal melanoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004086 MONDO:0003912 True ciliary body epithelioid cell melanoma malignant ciliary body melanoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004086 MONDO:0006200 True ciliary body epithelioid cell melanoma epithelioid cell uveal melanoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004086 MONDO:0006200 True ciliary body epithelioid cell melanoma epithelioid cell uveal melanoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004087 MONDO:0003050 True basaloid large cell lung carcinoma lung large cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004087 MONDO:0006102 True basaloid large cell lung carcinoma basaloid carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0004088 MONDO:0003486 True cervical basaloid carcinoma basaloid squamous cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004088 MONDO:0006143 True cervical basaloid carcinoma cervical squamous cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004088 MONDO:0006143 True cervical basaloid carcinoma cervical squamous cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004089 MONDO:0003486 True basaloid carcinoma of the penis basaloid squamous cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004089 MONDO:0020656 True basaloid carcinoma of the penis human papillomavirus-related penile squamous cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0004090 MONDO:0003486 True vulvar basaloid squamous cell carcinoma basaloid squamous cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004090 MONDO:0024609 True vulvar basaloid squamous cell carcinoma vulvar squamous cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004090 MONDO:0024609 True vulvar basaloid squamous cell carcinoma vulvar squamous cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004091 MONDO:0002529 True skin basaloid carcinoma skin squamous cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004091 MONDO:0003486 True skin basaloid carcinoma basaloid squamous cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004091 MONDO:0005056 True skin basaloid carcinoma keratinizing squamous cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS @@ -3941,301 +2752,263 @@ MONDO:0004092 MONDO:0003486 True thymic basaloid carcinoma basaloid squamous cel MONDO:0004092 MONDO:0003493 True thymic basaloid carcinoma thymus squamous cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004093 MONDO:0003486 True esophageal basaloid carcinoma basaloid squamous cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004093 MONDO:0005580 True esophageal basaloid carcinoma esophageal squamous cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004094 MONDO:0002998 True multiple skull base meningioma skull base meningioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0004095 MONDO:0005062 True B-cell neoplasm lymphoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0004096 MONDO:0002378 True spinal cord dermoid cyst dermoid cyst UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004094 MONDO:0002998 True multiple skull base meningioma skull base meningioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004096 MONDO:0002378 True spinal cord dermoid cyst dermoid cyst UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004096 MONDO:0002718 True spinal cord dermoid cyst central nervous system teratoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004096 MONDO:0021234 True spinal cord dermoid cyst spinal cord neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0004098 MONDO:0002852 True malignant melanocytic peripheral nerve sheath tumor of mediastinum mediastinum sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004098 MONDO:0003863 True malignant melanocytic peripheral nerve sheath tumor of mediastinum malignant melanocytic neoplasm of the peripheral nerve sheath UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004099 MONDO:0002379 True adult cystic teratoma cystic teratoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004099 MONDO:0002379 True adult cystic teratoma cystic teratoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004099 MONDO:0003516 True adult cystic teratoma adult teratoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004100 MONDO:0005454 True lung mixed small cell and squamous cell carcinoma lung neuroendocrine neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0004101 MONDO:0005075 True multicentric papillary thyroid carcinoma thyroid gland papillary carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0004102 MONDO:0005075 True columnar cell variant thyroid gland papillary carcinoma thyroid gland papillary carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0004103 MONDO:0005075 True tall cell variant thyroid gland papillary carcinoma thyroid gland papillary carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0004104 MONDO:0004107 True splenic manifestation of hairy cell leukemia splenic manifestation of leukemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004100 MONDO:0005454 True lung mixed small cell and squamous cell carcinoma lung neuroendocrine neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004101 MONDO:0005075 True multicentric papillary thyroid carcinoma thyroid gland papillary carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004102 MONDO:0005075 True columnar cell variant thyroid gland papillary carcinoma thyroid gland papillary carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004103 MONDO:0005075 True tall cell variant thyroid gland papillary carcinoma thyroid gland papillary carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004104 MONDO:0004107 True splenic manifestation of hairy cell leukemia splenic manifestation of leukemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004104 MONDO:0018935 True splenic manifestation of hairy cell leukemia hairy cell leukemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004105 MONDO:0006517 True childhood epithelioid sarcoma childhood malignant neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004105 MONDO:0017387 True childhood epithelioid sarcoma epithelioid sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0004106 MONDO:0003402 True testicular yolk sac tumor, macrocystic pattern testicular yolk sac tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004105 MONDO:0017387 True childhood epithelioid sarcoma epithelioid sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004106 MONDO:0003402 True testicular yolk sac tumor, macrocystic pattern testicular yolk sac tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004107 MONDO:0005059 True splenic manifestation of leukemia leukemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004107 MONDO:0005966 True splenic manifestation of leukemia spleen cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0004108 MONDO:0002720 True diaphragma sellae meningioma sella turcica neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0004108 MONDO:0002998 True diaphragma sellae meningioma skull base meningioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0004109 MONDO:0004427 True epiglottis neoplasm supraglottis neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0004110 MONDO:0004111 True refractory hairy cell leukemia refractory hematologic cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0004110 MONDO:0018935 True refractory hairy cell leukemia hairy cell leukemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004107 MONDO:0005966 True splenic manifestation of leukemia spleen cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004108 MONDO:0002720 True diaphragma sellae meningioma sella turcica neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004108 MONDO:0002998 True diaphragma sellae meningioma skull base meningioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004109 MONDO:0004427 True epiglottis neoplasm supraglottis neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004110 MONDO:0004111 True refractory hairy cell leukemia refractory hematologic cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004110 MONDO:0018935 True refractory hairy cell leukemia hairy cell leukemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004111 MONDO:0044881 True refractory hematologic cancer hematopoietic and lymphoid cell neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004112 MONDO:0006032 True radiation cystitis cystitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004112 MONDO:0006032 True radiation cystitis cystitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004114 MONDO:0000402 True urinary bladder small cell neuroendocrine carcinoma small cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004114 MONDO:0004986 True urinary bladder small cell neuroendocrine carcinoma urinary bladder carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004114 MONDO:0004986 True urinary bladder small cell neuroendocrine carcinoma urinary bladder carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004116 MONDO:0000402 True esophageal small cell neuroendocrine carcinoma small cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004116 MONDO:0019086 True esophageal small cell neuroendocrine carcinoma carcinoma of esophagus UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004116 MONDO:0019086 True esophageal small cell neuroendocrine carcinoma carcinoma of esophagus UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004117 MONDO:0000402 True ampulla of vater small cell neuroendocrine carcinoma small cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004117 MONDO:0017590 True ampulla of vater small cell neuroendocrine carcinoma carcinoma of the ampulla of vater UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0004118 MONDO:0006032 True cystitis cystica cystitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004117 MONDO:0017590 True ampulla of vater small cell neuroendocrine carcinoma carcinoma of the ampulla of vater UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004118 MONDO:0006032 True cystitis cystica cystitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004120 MONDO:0000402 True Bartholin gland small cell carcinoma small cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004120 MONDO:0002829 True Bartholin gland small cell carcinoma bartholin gland carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004120 MONDO:0002829 True Bartholin gland small cell carcinoma bartholin gland carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004120 MONDO:0056816 True Bartholin gland small cell carcinoma vulvar neuroendocrine carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0004122 MONDO:0000402 True thymus small cell carcinoma small cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004122 MONDO:0020516 True thymus small cell carcinoma thymic neuroendocrine carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004124 MONDO:0002854 True prostate stromal sarcoma prostate sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004124 MONDO:0002854 True prostate stromal sarcoma prostate sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004124 MONDO:0044337 True prostate stromal sarcoma stromal sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0004125 MONDO:0003299 True rectum leiomyoma colorectal leiomyoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004125 MONDO:0021462 True rectum leiomyoma benign neoplasm of rectum UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004126 MONDO:0003240 True thyroiditis thyroid gland disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0004127 MONDO:0005061 True lung occult adenocarcinoma lung adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0004128 MONDO:0003050 True lung occult large cell carcinoma lung large cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004126 MONDO:0003240 True thyroiditis thyroid gland disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004127 MONDO:0005061 True lung occult adenocarcinoma lung adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004128 MONDO:0003050 True lung occult large cell carcinoma lung large cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004129 MONDO:0007108 True cloacogenic carcinoma anal canal carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004130 MONDO:0003486 True anus basaloid carcinoma basaloid squamous cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004130 MONDO:0006082 True anus basaloid carcinoma anal squamous cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0004131 MONDO:0006082 True anal verrucous carcinoma anal squamous cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004130 MONDO:0006082 True anus basaloid carcinoma anal squamous cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004131 MONDO:0006082 True anal verrucous carcinoma anal squamous cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004132 MONDO:0006082 True anal canal squamous cell carcinoma anal squamous cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004132 MONDO:0007108 True anal canal squamous cell carcinoma anal canal carcinoma UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004133 MONDO:0006373 True pituitary gland mixed eosinophil-basophil adenoma pituitary gland adenoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0004134 MONDO:0002531 True benign dermal neurilemmoma skin neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0004136 MONDO:0005183 True ovarian endometrioid cystadenoma ovarian cystadenoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0004139 MONDO:0002280 True normocytic anemia anemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0004140 MONDO:0003514 True intermediate malignant teratoma malignant teratoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0004141 MONDO:0005105 True melanomatosis melanoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0004142 MONDO:0003960 True lung combined large cell neuroendocrine carcinoma pulmonary large cell neuroendocrine carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004132 MONDO:0007108 True anal canal squamous cell carcinoma anal canal carcinoma UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004134 MONDO:0002531 True benign dermal neurilemmoma skin neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004136 MONDO:0005183 True ovarian endometrioid cystadenoma ovarian cystadenoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004139 MONDO:0002280 True normocytic anemia anemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004141 MONDO:0005105 True melanomatosis melanoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004142 MONDO:0003960 True lung combined large cell neuroendocrine carcinoma pulmonary large cell neuroendocrine carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004142 MONDO:0006167 True lung combined large cell neuroendocrine carcinoma combined lung carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004143 MONDO:0016642 True psammomatous meningioma meningioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0004144 MONDO:0016642 True fibrous meningioma meningioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0004145 MONDO:0016642 True meningothelial meningioma meningioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0004146 MONDO:0016642 True transitional meningioma meningioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0004147 MONDO:0006456 True noninvasive malignant thymoma thymoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004143 MONDO:0016642 True psammomatous meningioma meningioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004144 MONDO:0016642 True fibrous meningioma meningioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004145 MONDO:0016642 True meningothelial meningioma meningioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004146 MONDO:0016642 True transitional meningioma meningioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004147 MONDO:0006456 True noninvasive malignant thymoma thymoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004148 MONDO:0002518 True gallbladder papillary neoplasm with an associated invasive carcinoma gallbladder papillary neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004148 MONDO:0006215 True gallbladder papillary neoplasm with an associated invasive carcinoma gallbladder adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004149 MONDO:0006215 True gallbladder pleomorphic giant cell adenocarcinoma gallbladder adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0004150 MONDO:0002056 True breast giant fibroadenoma breast fibroadenoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0004151 MONDO:0003544 True spinal meninges cancer spinal cord cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0004152 MONDO:0003864 True chronic lymphocytic leukemia/small lymphocytic lymphoma with immunoglobulin heavy chain variable-region gene somatic hypermutation chronic lymphocytic leukemia/small lymphocytic lymphoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0004153 MONDO:0003750 True childhood central nervous system embryonal carcinoma childhood central nervous system germ cell tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004150 MONDO:0002056 True breast giant fibroadenoma breast fibroadenoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004152 MONDO:0003864 True chronic lymphocytic leukemia/small lymphocytic lymphoma with immunoglobulin heavy chain variable-region gene somatic hypermutation chronic lymphocytic leukemia/small lymphocytic lymphoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004153 MONDO:0003750 True childhood central nervous system embryonal carcinoma childhood central nervous system germ cell tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004153 MONDO:0004479 True childhood central nervous system embryonal carcinoma malignant childhood germ cell neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004153 MONDO:0018843 True childhood central nervous system embryonal carcinoma embryonal carcinoma of the central nervous system UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004155 MONDO:0003405 True adult central nervous system embryonal carcinoma adult central nervous system germ cell tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004155 MONDO:0003405 True adult central nervous system embryonal carcinoma adult central nervous system germ cell tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004155 MONDO:0018843 True adult central nervous system embryonal carcinoma embryonal carcinoma of the central nervous system UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004156 MONDO:0002867 True pancreatic mucinous cystadenocarcinoma pancreatic cystadenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0004158 MONDO:0004156 True pancreatic mucinous-cystic neoplasm with an associated invasive carcinoma pancreatic mucinous cystadenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0004159 MONDO:0004156 True pancreatic non-invasive mucinous cystadenocarcinoma pancreatic mucinous cystadenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0004160 MONDO:0006026 True female stress incontinence urinary bladder disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004160 MONDO:0006026 True female stress incontinence urinary bladder disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004161 MONDO:0007886 True uterine corpus apoplectic leiomyoma uterine corpus leiomyoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004162 MONDO:0003296 True uterine corpus cellular leiomyoma cellular leiomyoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004162 MONDO:0007886 True uterine corpus cellular leiomyoma uterine corpus leiomyoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004163 MONDO:0003715 True bladder urachal urothelial carcinoma bladder urachal carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004163 MONDO:0003715 True bladder urachal urothelial carcinoma bladder urachal carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004163 MONDO:0005611 True bladder urachal urothelial carcinoma bladder transitional cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004164 MONDO:0002493 True lymphoepithelioma-like acinar prostate adenocarcinoma prostatic acinar adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004165 MONDO:0003739 True selective IgD deficiency disease selective immunoglobulin deficiency disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0004166 MONDO:0006206 True hereditary fallopian tube carcinoma fallopian tube carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0004168 MONDO:0003669 True cribriform variant testicular seminoma testicular seminoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0004169 MONDO:0002263 True premenstrual tension female reproductive system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0004170 MONDO:0001269 True nodular episcleritis scleral disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0004172 MONDO:0002879 True uterine corpus adenocarcinofibroma uterine body mixed cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0004173 MONDO:0001869 True adenocarcinoma of skene gland origin paraurethral gland cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0004174 MONDO:0005461 True secretory uterine corpus endometrioid adenocarcinoma endometrium adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004165 MONDO:0003739 True selective IgD deficiency disease selective immunoglobulin deficiency disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004166 MONDO:0006206 True hereditary fallopian tube carcinoma fallopian tube carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004168 MONDO:0003669 True cribriform variant testicular seminoma testicular seminoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004174 MONDO:0005461 True secretory uterine corpus endometrioid adenocarcinoma endometrium adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004174 MONDO:0006192 True secretory uterine corpus endometrioid adenocarcinoma endometrial endometrioid adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004175 MONDO:0005461 True mucin-rich endometrial endometrioid adenocarcinoma endometrium adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0004176 MONDO:0002621 True childhood extraosseous osteosarcoma extraosseous osteosarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004176 MONDO:0002621 True childhood extraosseous osteosarcoma extraosseous osteosarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004176 MONDO:0002623 True childhood extraosseous osteosarcoma pediatric osteosarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004177 MONDO:0004180 True benign urethral neoplasm benign urinary system neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004177 MONDO:0004180 True benign urethral neoplasm benign urinary system neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004177 MONDO:0021239 True benign urethral neoplasm urethra neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004178 MONDO:0003402 True testicular yolk sac tumor, endodermal sinus pattern testicular yolk sac tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0004180 MONDO:0005165 True benign urinary system neoplasm benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004178 MONDO:0003402 True testicular yolk sac tumor, endodermal sinus pattern testicular yolk sac tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004180 MONDO:0005165 True benign urinary system neoplasm benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004180 MONDO:0021066 True benign urinary system neoplasm urinary system neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004181 MONDO:0003725 True breast adenomyoepithelial adenosis breast adenosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0004182 MONDO:0004986 True stage IVb bladder cancer urinary bladder carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0004183 MONDO:0005244 True axonal neuropathy peripheral neuropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0004184 MONDO:0002118 True urethral disorder urinary system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004181 MONDO:0003725 True breast adenomyoepithelial adenosis breast adenosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004183 MONDO:0005244 True axonal neuropathy peripheral neuropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004184 MONDO:0002118 True urethral disorder urinary system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004185 MONDO:0003464 True ovarian serous cystadenofibroma cystadenofibroma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004185 MONDO:0006340 True ovarian serous cystadenofibroma ovarian serous adenofibroma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0004186 MONDO:0004187 True cranial nodular fasciitis nodular fasciitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0004187 MONDO:0004830 True nodular fasciitis fasciitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004185 MONDO:0006340 True ovarian serous cystadenofibroma ovarian serous adenofibroma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004186 MONDO:0004187 True cranial nodular fasciitis nodular fasciitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004187 MONDO:0006209 True nodular fasciitis fibroblastic neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0004187 MONDO:0006424 True nodular fasciitis soft tissue neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004187 MONDO:0019296 True nodular fasciitis subcutaneous tissue disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0004188 MONDO:0003744 True iris spindle cell melanoma spindle cell intraocular melanoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004188 MONDO:0004064 True iris spindle cell melanoma iris melanoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0004189 MONDO:0003749 True esophageal tuberculosis esophageal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0004189 MONDO:0005768 True esophageal tuberculosis gastrointestinal tuberculosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0004190 MONDO:0000384 True nephrogenic adenoma of urinary bladder bladder benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0004191 MONDO:0002513 True nephrogenic adenoma kidney benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0004192 MONDO:0006295 True urethra cancer malignant urinary system neoplasm SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004188 MONDO:0004064 True iris spindle cell melanoma iris melanoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004190 MONDO:0004191 True nephrogenic adenoma of urinary bladder nephrogenic adenoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004192 MONDO:0006295 True urethra cancer malignant urinary system neoplasm SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004192 MONDO:0021239 True urethra cancer urethra neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0004193 MONDO:0003481 True pediatric ovarian dysgerminoma dysgerminoma of ovary UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004193 MONDO:0003760 True pediatric ovarian dysgerminoma pediatric ovarian germ cell tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004193 MONDO:0003760 True pediatric ovarian dysgerminoma pediatric ovarian germ cell tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004193 MONDO:0004479 True pediatric ovarian dysgerminoma malignant childhood germ cell neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004193 MONDO:0020577 True pediatric ovarian dysgerminoma childhood gonadal germ cell tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004194 MONDO:0005558 True ovarian stromal hyperthecosis ovarian disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0004195 MONDO:0003393 True thymic dysplasia thymus gland disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004194 MONDO:0005558 True ovarian stromal hyperthecosis ovarian disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004195 MONDO:0003393 True thymic dysplasia thymus gland disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004196 MONDO:0006406 True rectal sarcomatoid carcinoma sarcomatoid carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004196 MONDO:0044937 True rectal sarcomatoid carcinoma rectal carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004197 MONDO:0004192 True male urethral cancer urethra cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0004198 MONDO:0003402 True testicular yolk sac tumor, solid pattern testicular yolk sac tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004197 MONDO:0004192 True male urethral cancer urethra cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004198 MONDO:0003402 True testicular yolk sac tumor, solid pattern testicular yolk sac tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004199 MONDO:0005056 True vulvar keratinizing squamous cell carcinoma keratinizing squamous cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004199 MONDO:0024609 True vulvar keratinizing squamous cell carcinoma vulvar squamous cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0004200 MONDO:0004986 True superficial urinary bladder carcinoma urinary bladder carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0004201 MONDO:0003381 True pituitary hypoplasia pituitary gland disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0004202 MONDO:0003606 True adrenal medulla carcinoma adrenal medulla cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0004203 MONDO:0004192 True female urethral cancer urethra cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0004204 MONDO:0002536 True squamous cell skin papilloma skin papilloma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004199 MONDO:0024609 True vulvar keratinizing squamous cell carcinoma vulvar squamous cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004200 MONDO:0004986 True superficial urinary bladder carcinoma urinary bladder carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004201 MONDO:0003381 True pituitary hypoplasia pituitary gland disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004203 MONDO:0004192 True female urethral cancer urethra cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004204 MONDO:0001825 True squamous cell skin papilloma squamous papilloma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004204 MONDO:0002536 True squamous cell skin papilloma skin papilloma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004205 MONDO:0006407 True lymphohistiocytoid mesothelioma sarcomatoid mesothelioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004206 MONDO:0004634 True pulmonary vein leiomyosarcoma vein disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0004206 MONDO:0005058 True pulmonary vein leiomyosarcoma leiomyosarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0004207 MONDO:0000473 True pulmonary artery leiomyosarcoma arterial disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0004207 MONDO:0005058 True pulmonary artery leiomyosarcoma leiomyosarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0004208 MONDO:0005058 True superior vena cava leiomyosarcoma leiomyosarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0004209 MONDO:0002731 True cerebral primitive neuroectodermal tumor cerebral hemisphere cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004206 MONDO:0005058 True pulmonary vein leiomyosarcoma leiomyosarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004207 MONDO:0005058 True pulmonary artery leiomyosarcoma leiomyosarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004208 MONDO:0005058 True superior vena cava leiomyosarcoma leiomyosarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004209 MONDO:0002731 True cerebral primitive neuroectodermal tumor cerebral hemisphere cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004209 MONDO:0003145 True cerebral primitive neuroectodermal tumor supratentorial primitive neuroectodermal tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004210 MONDO:0004211 True colonic L-cell glucagon-like peptide producing tumor L-cell glucagon-like peptide-producing neuroendocrine tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004210 MONDO:0015067 True colonic L-cell glucagon-like peptide producing tumor neuroendocrine tumor of the colon, well differentiated, low or intermediate grade tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0004211 MONDO:0000386 True L-cell glucagon-like peptide-producing neuroendocrine tumor digestive system neuroendocrine tumor, grade 1/2 UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004212 MONDO:0024609 True vulvar keratoacanthoma-like carcinoma vulvar squamous cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0004213 MONDO:0024609 True vulvar non-keratinizing squamous cell carcinoma vulvar squamous cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0004214 MONDO:0003463 True ovarian endometrioid cystadenofibroma ovarian endometrioid adenofibroma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004213 MONDO:0024609 True vulvar non-keratinizing squamous cell carcinoma vulvar squamous cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004214 MONDO:0003463 True ovarian endometrioid cystadenofibroma ovarian endometrioid adenofibroma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004214 MONDO:0003464 True ovarian endometrioid cystadenofibroma cystadenofibroma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004215 MONDO:0005119 True cutaneous anthrax anthrax infection UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0004216 MONDO:0002073 True pineal region germinoma malignant pineal area germ cell neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004216 MONDO:0002073 True pineal region germinoma malignant pineal area germ cell neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004216 MONDO:0002214 True pineal region germinoma brain germinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004217 MONDO:0002214 True childhood brain germinoma brain germinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004217 MONDO:0002214 True childhood brain germinoma brain germinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004217 MONDO:0004452 True childhood brain germinoma childhood central nervous system germinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004218 MONDO:0003750 True childhood germ cell brain tumor childhood central nervous system germ cell tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0004219 MONDO:0003402 True polyvesicular vitelline pattern testicular yolk sac tumor testicular yolk sac tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0004220 MONDO:0005461 True endometrial endometrioid adenocarcinoma with spindled epithelial cells endometrium adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004218 MONDO:0003750 True childhood germ cell brain tumor childhood central nervous system germ cell tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004219 MONDO:0003402 True polyvesicular vitelline pattern testicular yolk sac tumor testicular yolk sac tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004220 MONDO:0005461 True endometrial endometrioid adenocarcinoma with spindled epithelial cells endometrium adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004220 MONDO:0006192 True endometrial endometrioid adenocarcinoma with spindled epithelial cells endometrial endometrioid adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004221 MONDO:0006359 True uterine corpus perivascular epithelioid cell tumor neoplasm with perivascular epithelioid cell differentiation UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0004222 MONDO:0002702 True ovarian clear cell cystadenocarcinoma ovarian cystadenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004221 MONDO:0006359 True uterine corpus perivascular epithelioid cell tumor neoplasm with perivascular epithelioid cell differentiation UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004222 MONDO:0002702 True ovarian clear cell cystadenocarcinoma ovarian cystadenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004222 MONDO:0006045 True ovarian clear cell cystadenocarcinoma ovarian clear cell adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004223 MONDO:0005079 True polyp of middle ear polyp UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0004223 MONDO:0021366 True polyp of middle ear neoplasm of middle ear UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004224 MONDO:0003335 True chronic metabolic polyneuropathy chronic polyneuropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004224 MONDO:0003335 True chronic metabolic polyneuropathy chronic polyneuropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004227 MONDO:0004230 True epididymal adenomatoid tumor adenomatoid tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004227 MONDO:0021473 True epididymal adenomatoid tumor benign neoplasm of epididymis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004229 MONDO:0006056 True acantholytic variant squamous cell breast carcinoma squamous cell breast carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0004231 MONDO:0006056 True spindle cell variant squamous cell breast carcinoma squamous cell breast carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004229 MONDO:0006056 True acantholytic variant squamous cell breast carcinoma squamous cell breast carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004230 MONDO:0005065 True adenomatoid tumor mesothelioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0004231 MONDO:0006056 True spindle cell variant squamous cell breast carcinoma squamous cell breast carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004231 MONDO:0021663 True spindle cell variant squamous cell breast carcinoma sarcomatoid squamous cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0004232 MONDO:0005056 True large cell keratinizing variant squamous cell breast carcinoma keratinizing squamous cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004232 MONDO:0006056 True large cell keratinizing variant squamous cell breast carcinoma squamous cell breast carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004232 MONDO:0006056 True large cell keratinizing variant squamous cell breast carcinoma squamous cell breast carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004233 MONDO:0006517 True childhood pleomorphic rhabdomyosarcoma childhood malignant neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004233 MONDO:0017386 True childhood pleomorphic rhabdomyosarcoma pleomorphic rhabdomyosarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004233 MONDO:0017386 True childhood pleomorphic rhabdomyosarcoma pleomorphic rhabdomyosarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004234 MONDO:0005169 True chronic lymphoproliferative disorder of NK-cells neoplasm of mature T-cells or NK-cells UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004235 MONDO:0005020 True diverticulitis intestinal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004235 MONDO:0005020 True diverticulitis intestinal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004236 MONDO:0015063 True duodenal somatostatinoma duodenal neuroendocrine tumor, well differentiated, low or intermediate grade UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004237 MONDO:0003050 True large cell carcinoma with rhabdoid phenotype lung large cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0004238 MONDO:0016642 True petrous apex meningioma meningioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004237 MONDO:0003050 True large cell carcinoma with rhabdoid phenotype lung large cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004238 MONDO:0016642 True petrous apex meningioma meningioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004239 MONDO:0005056 True cervical keratinizing squamous cell carcinoma keratinizing squamous cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004239 MONDO:0006143 True cervical keratinizing squamous cell carcinoma cervical squamous cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0004240 MONDO:0004192 True posterior urethra cancer urethra cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0004241 MONDO:0002614 True Osgood-Schlatter disease bone inflammation disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0004241 MONDO:0018381 True Osgood-Schlatter disease osteochondrosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004242 MONDO:0004247 True active peptic ulcer disease peptic ulcer disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0004243 MONDO:0004244 True vulvar proximal-type epithelioid sarcoma proximal-type epithelioid sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0004243 MONDO:0005214 True vulvar proximal-type epithelioid sarcoma vulva sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0004244 MONDO:0017387 True proximal-type epithelioid sarcoma epithelioid sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0004245 MONDO:0005499 True ependymal tumor of brain brain glioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0004247 MONDO:0004335 True peptic ulcer disease digestive system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004239 MONDO:0006143 True cervical keratinizing squamous cell carcinoma cervical squamous cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004240 MONDO:0004192 True posterior urethra cancer urethra cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004241 MONDO:0018381 True Osgood-Schlatter disease osteochondrosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004243 MONDO:0004244 True vulvar proximal-type epithelioid sarcoma proximal-type epithelioid sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004243 MONDO:0005214 True vulvar proximal-type epithelioid sarcoma vulva sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004244 MONDO:0017387 True proximal-type epithelioid sarcoma epithelioid sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004247 MONDO:0004335 True peptic ulcer disease digestive system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004248 MONDO:0002915 True pediatric infratentorial ependymoma childhood infratentorial neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004249 MONDO:0003478 True pediatric supratentorial ependymoma childhood ependymoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004250 MONDO:0002533 True extrahepatic bile duct papillary adenoma papillary adenoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004250 MONDO:0003445 True extrahepatic bile duct papillary adenoma extrahepatic bile duct adenoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0004251 MONDO:0021118 True small intestine neoplasm intestinal neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004250 MONDO:0003445 True extrahepatic bile duct papillary adenoma extrahepatic bile duct adenoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004251 MONDO:0021118 True small intestine neoplasm intestinal neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004252 MONDO:0002995 True small intestinal L-cell glucagon-like peptide producing tumor small intestine neuroendocrine tumor, well differentiated, low or intermediate grade UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0004252 MONDO:0004211 True small intestinal L-cell glucagon-like peptide producing tumor L-cell glucagon-like peptide-producing neuroendocrine tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004253 MONDO:0002060 True intraductal breast papillomatosis intraductal papilloma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004253 MONDO:0021099 True intraductal breast papillomatosis intraductal papillomatosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0004255 MONDO:0005626 True Wolffian adnexal tumor epithelial neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004256 MONDO:0001279 True lumbar spinal canal and spinal cord meningioma intraspinal meningioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0004257 MONDO:0003750 True childhood central nervous system mixed germ cell tumor childhood central nervous system germ cell tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004256 MONDO:0001279 True lumbar spinal canal and spinal cord meningioma intraspinal meningioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004257 MONDO:0003750 True childhood central nervous system mixed germ cell tumor childhood central nervous system germ cell tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004257 MONDO:0004479 True childhood central nervous system mixed germ cell tumor malignant childhood germ cell neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004257 MONDO:0016742 True childhood central nervous system mixed germ cell tumor mixed germ cell tumor of central nervous system UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0004258 MONDO:0040674 True female orgasmic disorder orgasm disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004259 MONDO:0005131 True endocervical carcinoma cervical carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0004260 MONDO:0004247 True peptic ulcer perforation peptic ulcer disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0004261 MONDO:0004262 True periductal breast myoepitheliosis breast myoepitheliosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0004262 MONDO:0002483 True breast myoepitheliosis breast myoepithelial tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0004263 MONDO:0002915 True pediatric infratentorial ependymoblastoma childhood infratentorial neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0004263 MONDO:0003107 True pediatric infratentorial ependymoblastoma infratentorial cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0004263 MONDO:0016715 True pediatric infratentorial ependymoblastoma ependymoblastoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0004264 MONDO:0004265 True acute gonococcal endometritis acute endometritis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0004265 MONDO:0000918 True acute endometritis endometritis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0004266 MONDO:0002652 True anal gland adenocarcinoma anus adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004261 MONDO:0004262 True periductal breast myoepitheliosis breast myoepitheliosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004262 MONDO:0002483 True breast myoepitheliosis breast myoepithelial tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004263 MONDO:0002915 True pediatric infratentorial ependymoblastoma childhood infratentorial neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004263 MONDO:0003107 True pediatric infratentorial ependymoblastoma infratentorial cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004263 MONDO:0016715 True pediatric infratentorial ependymoblastoma ependymoblastoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004265 MONDO:0000918 True acute endometritis endometritis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004266 MONDO:0002652 True anal gland adenocarcinoma anus adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004267 MONDO:0021098 True squamous papillomatosis papillomatosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004269 MONDO:0003208 True breast cystic hypersecretory carcinoma breast secretory carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0004270 MONDO:0002058 True breast ductal adenoma breast adenoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0004271 MONDO:0002058 True pregnancy adenoma breast adenoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0004272 MONDO:0006002 True urinary bladder tuberculosis urogenital tuberculosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0004272 MONDO:0006026 True urinary bladder tuberculosis urinary bladder disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0004273 MONDO:0002058 True breast apocrine adenoma breast adenoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0004274 MONDO:0006043 True mixed epithelial/mesenchymal metaplastic breast carcinoma metaplastic breast carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0004275 MONDO:0002629 True osteosarcoma arising in bone Paget disease bone osteosarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004270 MONDO:0002058 True breast ductal adenoma breast adenoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004271 MONDO:0002058 True pregnancy adenoma breast adenoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004273 MONDO:0002058 True breast apocrine adenoma breast adenoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004274 MONDO:0006043 True mixed epithelial/mesenchymal metaplastic breast carcinoma metaplastic breast carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004275 MONDO:0002629 True osteosarcoma arising in bone Paget disease bone osteosarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004276 MONDO:0002804 True ceruminoma apocrine adenoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004277 MONDO:0000314 True gonorrhea primary bacterial infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0004278 MONDO:0002837 True infiltrating bladder urothelial carcinoma sarcomatoid variant sarcomatoid transitional cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004278 MONDO:0003890 True infiltrating bladder urothelial carcinoma sarcomatoid variant infiltrating bladder urothelial carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0004279 MONDO:0002639 True glossopharyngeal motor neuropathy glossopharyngeal nerve disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0004280 MONDO:0004004 True asymmetric motor neuropathy motor nerve neuritis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004278 MONDO:0003890 True infiltrating bladder urothelial carcinoma sarcomatoid variant infiltrating bladder urothelial carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004279 MONDO:0002316 True glossopharyngeal motor neuropathy motor peripheral neuropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004281 MONDO:0003861 True vulvar eccrine porocarcinoma vulvar eccrine adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004281 MONDO:0006189 True vulvar eccrine porocarcinoma eccrine porocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004283 MONDO:0006245 True vulvar clear cell hidradenocarcinoma hidradenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0004283 MONDO:0024336 True vulvar clear cell hidradenocarcinoma vulvar adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004285 MONDO:0005192 True pancreatic intraductal papillary-mucinous carcinoma exocrine pancreatic carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0004286 MONDO:0002116 True pancreatic intraductal papillary-mucinous neoplasm malignant exocrine pancreas neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0004287 MONDO:0005184 True pancreatic foamy gland adenocarcinoma pancreatic ductal adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004288 MONDO:0004953 True scirrhous breast carcinoma invasive ductal breast carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004289 MONDO:0002766 True glottis verrucous carcinoma larynx verrucous carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004289 MONDO:0004080 True glottis verrucous carcinoma glottis squamous cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004289 MONDO:0004080 True glottis verrucous carcinoma glottis squamous cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004290 MONDO:0002766 True subglottis verrucous carcinoma larynx verrucous carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004290 MONDO:0004291 True subglottis verrucous carcinoma subglottis squamous cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0004291 MONDO:0004358 True subglottis squamous cell carcinoma subglottis carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004290 MONDO:0004291 True subglottis verrucous carcinoma subglottis squamous cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004291 MONDO:0004358 True subglottis squamous cell carcinoma subglottis carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004291 MONDO:0005595 True subglottis squamous cell carcinoma laryngeal squamous cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004292 MONDO:0002766 True supraglottis verrucous carcinoma larynx verrucous carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004292 MONDO:0004293 True supraglottis verrucous carcinoma supraglottis squamous cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0004293 MONDO:0004357 True supraglottis squamous cell carcinoma carcinoma of supraglottis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004292 MONDO:0004293 True supraglottis verrucous carcinoma supraglottis squamous cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004293 MONDO:0004357 True supraglottis squamous cell carcinoma carcinoma of supraglottis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004293 MONDO:0005595 True supraglottis squamous cell carcinoma laryngeal squamous cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004294 MONDO:0003507 True gestational ovarian choriocarcinoma choriocarcinoma of ovary UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004294 MONDO:0003507 True gestational ovarian choriocarcinoma choriocarcinoma of ovary UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004294 MONDO:0020550 True gestational ovarian choriocarcinoma gestational choriocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004295 MONDO:0005138 True asbestos-related lung carcinoma lung carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004295 MONDO:0005138 True asbestos-related lung carcinoma lung carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004296 MONDO:0003572 True cervical lymphoepithelioma-like carcinoma nasopharyngeal type undifferentiated carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004296 MONDO:0006143 True cervical lymphoepithelioma-like carcinoma cervical squamous cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004296 MONDO:0006143 True cervical lymphoepithelioma-like carcinoma cervical squamous cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004297 MONDO:0003572 True lymphoepithelioma-like thymic carcinoma nasopharyngeal type undifferentiated carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004297 MONDO:0006451 True lymphoepithelioma-like thymic carcinoma thymic carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0004298 MONDO:0004335 True stomach disorder digestive system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004297 MONDO:0006451 True lymphoepithelioma-like thymic carcinoma thymic carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004298 MONDO:0004335 True stomach disorder digestive system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004299 MONDO:0003572 True infiltrating bladder lymphoepithelioma-like carcinoma nasopharyngeal type undifferentiated carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004299 MONDO:0003890 True infiltrating bladder lymphoepithelioma-like carcinoma infiltrating bladder urothelial carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0004301 MONDO:0002631 True fibrosarcomatous osteosarcoma conventional osteosarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0004302 MONDO:0006890 True chief cell adenoma parathyroid gland adenoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004299 MONDO:0003890 True infiltrating bladder lymphoepithelioma-like carcinoma infiltrating bladder urothelial carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004301 MONDO:0002631 True fibrosarcomatous osteosarcoma conventional osteosarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004302 MONDO:0006890 True chief cell adenoma parathyroid gland adenoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004303 MONDO:0003426 True parathyroid gland clear cell adenoma clear cell adenoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004303 MONDO:0006890 True parathyroid gland clear cell adenoma parathyroid gland adenoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004303 MONDO:0006890 True parathyroid gland clear cell adenoma parathyroid gland adenoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004304 MONDO:0003421 True mixed cell type adenoma of parathyroid mixed cell adenoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004304 MONDO:0006890 True mixed cell type adenoma of parathyroid parathyroid gland adenoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004304 MONDO:0006890 True mixed cell type adenoma of parathyroid parathyroid gland adenoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004305 MONDO:0003424 True parathyroid oncocytic adenoma oncocytic adenoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004305 MONDO:0006890 True parathyroid oncocytic adenoma parathyroid gland adenoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004305 MONDO:0006890 True parathyroid oncocytic adenoma parathyroid gland adenoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004306 MONDO:0002623 True childhood intracortical osteosarcoma pediatric osteosarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004306 MONDO:0002631 True childhood intracortical osteosarcoma conventional osteosarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0004307 MONDO:0004308 True sarcomatosis of the meninges meningeal sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004306 MONDO:0002631 True childhood intracortical osteosarcoma conventional osteosarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004307 MONDO:0004308 True sarcomatosis of the meninges meningeal sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004307 MONDO:0004309 True sarcomatosis of the meninges sarcomatosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004308 MONDO:0002217 True meningeal sarcoma central nervous system sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004308 MONDO:0021322 True meningeal sarcoma malignant tumor of meninges UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004309 MONDO:0005089 True sarcomatosis sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0004310 MONDO:0016715 True adult embryonal tumor with multilayered rosettes, c19mc-altered ependymoblastoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0004311 MONDO:0005836 True carcinoma of Cowper glands male reproductive organ cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004309 MONDO:0005089 True sarcomatosis sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004310 MONDO:0016715 True adult embryonal tumor with multilayered rosettes, c19mc-altered ependymoblastoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004312 MONDO:0002998 True suprasellar meningioma skull base meningioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004313 MONDO:0016642 True gasserian ganglion meningioma meningioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004313 MONDO:0016642 True gasserian ganglion meningioma meningioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004314 MONDO:0002291 True malignant cutaneous granular cell skin tumor cutaneous granular cell tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004314 MONDO:0003252 True malignant cutaneous granular cell skin tumor granular cell cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004314 MONDO:0003363 True malignant cutaneous granular cell skin tumor malignant dermis tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0004315 MONDO:0003210 True cholangiolocellular carcinoma intrahepatic cholangiocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0004316 MONDO:0002529 True acantholytic squamous cell skin carcinoma skin squamous cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004314 MONDO:0003363 True malignant cutaneous granular cell skin tumor malignant dermis tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004315 MONDO:0003210 True cholangiolocellular carcinoma intrahepatic cholangiocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004316 MONDO:0002529 True acantholytic squamous cell skin carcinoma skin squamous cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004316 MONDO:0005056 True acantholytic squamous cell skin carcinoma keratinizing squamous cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004317 MONDO:0001279 True multiple spinal canal and spinal cord meningioma intraspinal meningioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0004318 MONDO:0003795 True pulmonary type ovarian small cell carcinoma ovarian small cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0004319 MONDO:0003795 True hypercalcemic type ovarian small cell carcinoma ovarian small cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0004320 MONDO:0002503 True adult infiltrating astrocytic neoplasm adult astrocytic tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0004321 MONDO:0005461 True endometrial mixed adenocarcinoma endometrium adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0004322 MONDO:0003408 True non-gestational ovarian choriocarcinoma ovarian primitive germ cell tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0004322 MONDO:0003507 True non-gestational ovarian choriocarcinoma choriocarcinoma of ovary UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0004323 MONDO:0005336 True muscular atrophy myopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004317 MONDO:0001279 True multiple spinal canal and spinal cord meningioma intraspinal meningioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004318 MONDO:0003795 True pulmonary type ovarian small cell carcinoma ovarian small cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004319 MONDO:0003795 True hypercalcemic type ovarian small cell carcinoma ovarian small cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004320 MONDO:0002503 True adult infiltrating astrocytic neoplasm adult astrocytic tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004321 MONDO:0005461 True endometrial mixed adenocarcinoma endometrium adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004322 MONDO:0003408 True non-gestational ovarian choriocarcinoma ovarian primitive germ cell tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004322 MONDO:0003507 True non-gestational ovarian choriocarcinoma choriocarcinoma of ovary UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004324 MONDO:0003125 True testicular fibroma testicular sex cord-stromal neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004324 MONDO:0005167 True testicular fibroma fibroma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004325 MONDO:0003125 True testicular thecoma testicular sex cord-stromal neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS @@ -4244,1410 +3017,1043 @@ MONDO:0004326 MONDO:0002537 True sphenoid sinus inverted papilloma inverted papi MONDO:0004326 MONDO:0004327 True sphenoid sinus inverted papilloma sphenoid sinus Schneiderian papilloma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004327 MONDO:0006353 True sphenoid sinus Schneiderian papilloma paranasal sinus Schneiderian papilloma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0004327 MONDO:0021477 True sphenoid sinus Schneiderian papilloma benign neoplasm of sphenoidal sinus UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004328 MONDO:0001748 True maxillary sinus adenocarcinoma maxillary sinus carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0004328 MONDO:0004970 True maxillary sinus adenocarcinoma adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0004329 MONDO:0004285 True pancreatic intraductal papillary-mucinous neoplasm with high grade dysplasia pancreatic intraductal papillary-mucinous carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0004329 MONDO:0004286 True pancreatic intraductal papillary-mucinous neoplasm with high grade dysplasia pancreatic intraductal papillary-mucinous neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0004330 MONDO:0003762 True leptomeningeal sarcoma malignant leptomeningeal tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004328 MONDO:0001748 True maxillary sinus adenocarcinoma maxillary sinus carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004328 MONDO:0004970 True maxillary sinus adenocarcinoma adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004329 MONDO:0004286 True pancreatic intraductal papillary-mucinous neoplasm with high grade dysplasia pancreatic intraductal papillary-mucinous neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004330 MONDO:0003762 True leptomeningeal sarcoma malignant leptomeningeal tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004330 MONDO:0004308 True leptomeningeal sarcoma meningeal sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004331 MONDO:0001378 True bladder urachal adenocarcinoma urachus cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0004331 MONDO:0002751 True bladder urachal adenocarcinoma bladder adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004331 MONDO:0002751 True bladder urachal adenocarcinoma bladder adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004331 MONDO:0003715 True bladder urachal adenocarcinoma bladder urachal carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004332 MONDO:0003639 True lung hilum cancer lung hilum neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004332 MONDO:0008903 True lung hilum cancer lung cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0004334 MONDO:0019954 True non-functional pancreatic neuroendocrine tumor pancreatic neuroendocrine tumor UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0004332 MONDO:0008903 True lung hilum cancer lung cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004333 MONDO:0023206 True pancreatic ACTH-producing neuroendocrine tumor functional pancreatic neuroendocrine tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0004334 MONDO:0019954 True non-functional pancreatic neuroendocrine tumor pancreatic neuroendocrine tumor UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0004334 MONDO:0021119 True non-functional pancreatic neuroendocrine tumor non-functioning endocrine neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004336 MONDO:0002169 True rectal signet ring cell adenocarcinoma rectum adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004336 MONDO:0002169 True rectal signet ring cell adenocarcinoma rectum adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004336 MONDO:0044336 True rectal signet ring cell adenocarcinoma colorectal signet ring cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0004337 MONDO:0002651 True perianal skin Paget disease anal Paget disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004337 MONDO:0002941 True perianal skin Paget disease anal margin carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0004338 MONDO:0003072 True retinal cell cancer retinal cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0004339 MONDO:0002720 True tuberculum sellae meningioma sella turcica neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0004340 MONDO:0005184 True mixed ductal-endocrine carcinoma of pancreas pancreatic ductal adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004337 MONDO:0002941 True perianal skin Paget disease anal margin carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004339 MONDO:0002720 True tuberculum sellae meningioma sella turcica neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004341 MONDO:0004957 True colloid carcinoma of the pancreas mucinous adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004341 MONDO:0005184 True colloid carcinoma of the pancreas pancreatic ductal adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004343 MONDO:0002867 True pancreatic acinar cell cystadenocarcinoma pancreatic cystadenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004343 MONDO:0006346 True pancreatic acinar cell cystadenocarcinoma pancreatic acinar cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004344 MONDO:0009330 True childhood malignant hemangiopericytoma hemangiopericytoma, malignant UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0004345 MONDO:0006517 True childhood malignant schwannoma childhood malignant neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004345 MONDO:0017827 True childhood malignant schwannoma malignant peripheral nerve sheath tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0004346 MONDO:0003210 True signet ring cell intrahepatic cholangiocarcinoma intrahepatic cholangiocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0004348 MONDO:0002311 True retinal telangiectasia retinal vascular disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0004349 MONDO:0003072 True retina lymphoma retinal cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004345 MONDO:0017827 True childhood malignant schwannoma malignant peripheral nerve sheath tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004346 MONDO:0003210 True signet ring cell intrahepatic cholangiocarcinoma intrahepatic cholangiocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004349 MONDO:0003072 True retina lymphoma retinal cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004349 MONDO:0004034 True retina lymphoma eye lymphoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004350 MONDO:0003078 True pediatric extraocular retinoblastoma extraocular retinoblastoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004350 MONDO:0003078 True pediatric extraocular retinoblastoma extraocular retinoblastoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004350 MONDO:0006517 True pediatric extraocular retinoblastoma childhood malignant neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004351 MONDO:0004034 True intraocular lymphoma eye lymphoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0004351 MONDO:0017207 True intraocular lymphoma primary organ-specific lymphoma UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004352 MONDO:0004245 True adult brain ependymoma ependymal tumor of brain UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0004353 MONDO:0003455 True extrahepatic biliary papillomatosis bile duct papillary neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0004354 MONDO:0004355 True neonatal leukemia childhood leukemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0004355 MONDO:0005059 True childhood leukemia leukemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004351 MONDO:0004034 True intraocular lymphoma eye lymphoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004351 MONDO:0017207 True intraocular lymphoma primary organ-specific lymphoma UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0004353 MONDO:0003455 True extrahepatic biliary papillomatosis bile duct papillary neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004354 MONDO:0004355 True neonatal leukemia childhood leukemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004355 MONDO:0005059 True childhood leukemia leukemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004355 MONDO:0006517 True childhood leukemia childhood malignant neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0004356 MONDO:0002730 True childhood multilocular cystic kidney neoplasm childhood kidney neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004357 MONDO:0001724 True carcinoma of supraglottis supraglottis cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004357 MONDO:0001724 True carcinoma of supraglottis supraglottis cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004357 MONDO:0002358 True carcinoma of supraglottis laryngeal carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004358 MONDO:0001293 True subglottis carcinoma subglottis cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004358 MONDO:0001293 True subglottis carcinoma subglottis cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004358 MONDO:0002358 True subglottis carcinoma laryngeal carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004359 MONDO:0005485 True delusional disorder psychotic disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0004360 MONDO:0002490 True breast extraskeletal osteosarcoma breast sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004360 MONDO:0002490 True breast extraskeletal osteosarcoma breast sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004360 MONDO:0002621 True breast extraskeletal osteosarcoma extraosseous osteosarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004361 MONDO:0003473 True adult spinal cord ependymoma spinal cord ependymoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0004363 MONDO:0002542 True adult spinal cord glioblastoma spinal cord glioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004361 MONDO:0003473 True adult spinal cord ependymoma spinal cord ependymoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004363 MONDO:0020690 True adult spinal cord glioblastoma adult glioblastoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0004364 MONDO:0003878 True choroid necrotic melanoma malignant choroid melanoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004364 MONDO:0004365 True choroid necrotic melanoma necrotic uveal melanoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0004365 MONDO:0006486 True necrotic uveal melanoma uveal melanoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0004366 MONDO:0003268 True mixed astrocytoma-ependymoma-oligodendroglioma mixed glioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0004367 MONDO:0002998 True petroclival meningioma skull base meningioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0004368 MONDO:0002998 True sphenoorbital meningioma skull base meningioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0004369 MONDO:0005240 True renal infectious disease kidney disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0004370 MONDO:0002998 True sphenocavernous meningioma skull base meningioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004364 MONDO:0004365 True choroid necrotic melanoma necrotic uveal melanoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004365 MONDO:0006486 True necrotic uveal melanoma uveal melanoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004366 MONDO:0003268 True mixed astrocytoma-ependymoma-oligodendroglioma mixed glioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004367 MONDO:0002998 True petroclival meningioma skull base meningioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004368 MONDO:0002998 True sphenoorbital meningioma skull base meningioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004370 MONDO:0002998 True sphenocavernous meningioma skull base meningioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004371 MONDO:0002918 True spinal multifocal clear cell meningioma clear cell meningioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004372 MONDO:0003335 True chronic toxic polyneuropathy chronic polyneuropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0004373 MONDO:0003262 True adult papillary meningioma rhabdoid meningioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004372 MONDO:0003335 True chronic toxic polyneuropathy chronic polyneuropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004373 MONDO:0021088 True adult papillary meningioma papillary meningioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004374 MONDO:0002129 True adult extraskeletal osteosarcoma bone cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0004374 MONDO:0002621 True adult extraskeletal osteosarcoma extraosseous osteosarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004375 MONDO:0005300 True end stage renal failure chronic kidney disease UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0004376 MONDO:0002482 True infiltrating nipple syringomatous adenoma nipple neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0004377 MONDO:0002994 True pancreatic non-functioning delta cell tumor pancreatic delta cell neuroendocrine tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0004377 MONDO:0004334 True pancreatic non-functioning delta cell tumor non-functional pancreatic neuroendocrine tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0004378 MONDO:0002731 True pediatric cerebral ependymoblastoma cerebral hemisphere cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0004378 MONDO:0016715 True pediatric cerebral ependymoblastoma ependymoblastoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0004379 MONDO:0004989 True female breast carcinoma breast carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0004380 MONDO:0005089 True dendritic cell sarcoma sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0004380 MONDO:0006247 True dendritic cell sarcoma histiocytic and dendritic cell neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004375 MONDO:0005300 True end stage renal failure chronic kidney disease UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004376 MONDO:0002482 True infiltrating nipple syringomatous adenoma nipple neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004377 MONDO:0002994 True pancreatic non-functioning delta cell tumor pancreatic delta cell neuroendocrine tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004377 MONDO:0004334 True pancreatic non-functioning delta cell tumor non-functional pancreatic neuroendocrine tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004378 MONDO:0016715 True pediatric cerebral ependymoblastoma ependymoblastoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004379 MONDO:0004989 True female breast carcinoma breast carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004381 MONDO:0004286 True pancreatic intraductal papillary-mucinous neoplasm with low grade dysplasia pancreatic intraductal papillary-mucinous neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004382 MONDO:0004867 True laryngeal disorder upper respiratory tract disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0004383 MONDO:0002999 True adult central nervous system germinoma central nervous system germinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004383 MONDO:0002999 True adult central nervous system germinoma central nervous system germinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004383 MONDO:0003405 True adult central nervous system germinoma adult central nervous system germ cell tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004384 MONDO:0002537 True maxillary sinus inverted papilloma inverted papilloma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004384 MONDO:0004457 True maxillary sinus inverted papilloma maxillary sinus Schneiderian papilloma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004386 MONDO:0003236 True uterine corpus atypical polypoid adenomyoma atypical polypoid adenomyoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004386 MONDO:0003237 True uterine corpus atypical polypoid adenomyoma adenomyoma of uterine corpus UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0004387 MONDO:0005558 True luteoma of pregnancy ovarian disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0004389 MONDO:0002875 True mite infestation parasitic ectoparasitic infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0004390 MONDO:0005328 True ocular hypotension eye disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004386 MONDO:0003237 True uterine corpus atypical polypoid adenomyoma adenomyoma of uterine corpus UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004387 MONDO:0005558 True luteoma of pregnancy ovarian disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004387 MONDO:0024575 True luteoma of pregnancy pregnancy disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0004392 MONDO:0002217 True intracranial extraskeletal myxoid chondrosarcoma central nervous system sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004392 MONDO:0012825 True intracranial extraskeletal myxoid chondrosarcoma extraskeletal myxoid chondrosarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004393 MONDO:0003268 True mixed astrocytoma-ependymoma mixed glioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0004394 MONDO:0001748 True maxillary sinus squamous cell carcinoma maxillary sinus carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004393 MONDO:0003268 True mixed astrocytoma-ependymoma mixed glioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004394 MONDO:0001748 True maxillary sinus squamous cell carcinoma maxillary sinus carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004394 MONDO:0044705 True maxillary sinus squamous cell carcinoma paranasal sinus squamous cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004396 MONDO:0001279 True cervical spinal canal and spinal cord meningioma intraspinal meningioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0004397 MONDO:0004398 True benign mediastinal psammomatous neurilemmoma mediastinal schwannoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004396 MONDO:0001279 True cervical spinal canal and spinal cord meningioma intraspinal meningioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004397 MONDO:0004398 True benign mediastinal psammomatous neurilemmoma mediastinal schwannoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004398 MONDO:0003098 True mediastinal schwannoma mediastinal neural neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004398 MONDO:0004820 True mediastinal schwannoma peripheral nerve schwannoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004398 MONDO:0004820 True mediastinal schwannoma peripheral nerve schwannoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004398 MONDO:0021521 True mediastinal schwannoma benign neoplasm of mediastinum UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004400 MONDO:0002588 True malignant type A thymoma thymoma type A UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0004401 MONDO:0003510 True testis refractory cancer malignant testicular germ cell tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004400 MONDO:0002588 True malignant type A thymoma thymoma type A UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004401 MONDO:0003510 True testis refractory cancer malignant testicular germ cell tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004401 MONDO:0036501 True testis refractory cancer refractory malignant neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004402 MONDO:0003402 True testicular yolk sac tumor, glandular-alveolar pattern testicular yolk sac tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004402 MONDO:0003402 True testicular yolk sac tumor, glandular-alveolar pattern testicular yolk sac tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004403 MONDO:0003537 True childhood precursor T-lymphoblastic lymphoma/leukemia precursor T-lymphoblastic lymphoma/leukemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0004403 MONDO:0006517 True childhood precursor T-lymphoblastic lymphoma/leukemia childhood malignant neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0004404 MONDO:0003537 True refractory precursor T-lymphoblastic lymphoma/leukemia precursor T-lymphoblastic lymphoma/leukemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004404 MONDO:0004111 True refractory precursor T-lymphoblastic lymphoma/leukemia refractory hematologic cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0004405 MONDO:0005028 True Barrett adenocarcinoma esophageal adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0004406 MONDO:0003405 True adult central nervous system mixed germ cell tumor adult central nervous system germ cell tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004404 MONDO:0004111 True refractory precursor T-lymphoblastic lymphoma/leukemia refractory hematologic cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004405 MONDO:0005028 True Barrett adenocarcinoma esophageal adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004406 MONDO:0003405 True adult central nervous system mixed germ cell tumor adult central nervous system germ cell tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004406 MONDO:0016742 True adult central nervous system mixed germ cell tumor mixed germ cell tumor of central nervous system UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004407 MONDO:0003325 True stroma-dominant and stroma-poor composite ganglioneuroblastoma nodular ganglioneuroblastoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0004408 MONDO:0003325 True schwannian stroma-rich and stroma-poor composite ganglioneuroblastoma nodular ganglioneuroblastoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0004409 MONDO:0003950 True nipple duct carcinoma nipple carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0004410 MONDO:0018352 True sarcomatoid penile squamous cell carcinoma squamous cell carcinoma of penis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004407 MONDO:0003325 True stroma-dominant and stroma-poor composite ganglioneuroblastoma nodular ganglioneuroblastoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004408 MONDO:0003325 True schwannian stroma-rich and stroma-poor composite ganglioneuroblastoma nodular ganglioneuroblastoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004410 MONDO:0018352 True sarcomatoid penile squamous cell carcinoma squamous cell carcinoma of penis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004410 MONDO:0021663 True sarcomatoid penile squamous cell carcinoma sarcomatoid squamous cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004411 MONDO:0003523 True duodenal gastrin-producing neuroendocrine tumor gastrin-producing neuroendocrine tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004411 MONDO:0003523 True duodenal gastrin-producing neuroendocrine tumor gastrin-producing neuroendocrine tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004411 MONDO:0015063 True duodenal gastrin-producing neuroendocrine tumor duodenal neuroendocrine tumor, well differentiated, low or intermediate grade UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0004412 MONDO:0024882 True malignant spiradenoma secondary neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004413 MONDO:0006143 True cervical non-keratinizing squamous cell carcinoma cervical squamous cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0004414 MONDO:0000931 True tamoxifen-related endometrial lesion endometrial disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0004415 MONDO:0003890 True lipid-cell variant infiltrating bladder urothelial carcinoma infiltrating bladder urothelial carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0004416 MONDO:0003890 True plasmacytoid variant infiltrating bladder urothelial carcinoma infiltrating bladder urothelial carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0004417 MONDO:0003890 True nested variant infiltrating bladder urothelial carcinoma infiltrating bladder urothelial carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0004418 MONDO:0003890 True microcystic variant infiltrating bladder urothelial carcinoma infiltrating bladder urothelial carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0004419 MONDO:0003890 True lymphoma-like variant infiltrating bladder urothelial carcinoma infiltrating bladder urothelial carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004413 MONDO:0006143 True cervical non-keratinizing squamous cell carcinoma cervical squamous cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004414 MONDO:0000931 True tamoxifen-related endometrial lesion endometrial disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004415 MONDO:0003890 True lipid-cell variant infiltrating bladder urothelial carcinoma infiltrating bladder urothelial carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004416 MONDO:0003890 True plasmacytoid variant infiltrating bladder urothelial carcinoma infiltrating bladder urothelial carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004417 MONDO:0003890 True nested variant infiltrating bladder urothelial carcinoma infiltrating bladder urothelial carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004418 MONDO:0003890 True microcystic variant infiltrating bladder urothelial carcinoma infiltrating bladder urothelial carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004419 MONDO:0003890 True lymphoma-like variant infiltrating bladder urothelial carcinoma infiltrating bladder urothelial carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004420 MONDO:0004412 True breast malignant eccrine spiradenoma malignant spiradenoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004421 MONDO:0021097 True sclerosing breast papilloma intraductal breast papilloma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0004422 MONDO:0002997 True cerebral falx meningioma anterior cranial fossa meningioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004421 MONDO:0021097 True sclerosing breast papilloma intraductal breast papilloma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004422 MONDO:0002997 True cerebral falx meningioma anterior cranial fossa meningioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004423 MONDO:0002217 True central nervous system extraskeletal osteosarcoma central nervous system sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004423 MONDO:0002621 True central nervous system extraskeletal osteosarcoma extraosseous osteosarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004423 MONDO:0037740 True central nervous system extraskeletal osteosarcoma malignant central nervous system mesenchymal, non-meningothelial neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004425 MONDO:0003240 True hyperthyroidism thyroid gland disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0004426 MONDO:0003774 True frontal convexity meningioma cerebral convexity meningioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004425 MONDO:0003240 True hyperthyroidism thyroid gland disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004426 MONDO:0003774 True frontal convexity meningioma cerebral convexity meningioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004427 MONDO:0021071 True supraglottis neoplasm laryngeal neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0004428 MONDO:0003422 True alveoli adenoma lung adenoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004429 MONDO:0002898 True skin meningioma skin cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0004429 MONDO:0016642 True skin meningioma meningioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0004430 MONDO:0018352 True penis mixed squamous cell carcinoma squamous cell carcinoma of penis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0004431 MONDO:0006816 True hemarthrosis arthropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004430 MONDO:0018352 True penis mixed squamous cell carcinoma squamous cell carcinoma of penis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004432 MONDO:0003517 True mature pericardial teratoma mature teratoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004432 MONDO:0021381 True mature pericardial teratoma neoplasm of pericardium UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0004433 MONDO:0002979 True papillary carcinoma of the penis papillary squamous carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004433 MONDO:0018352 True papillary carcinoma of the penis squamous cell carcinoma of penis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0004435 MONDO:0002397 True liver fibrosarcoma liver sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004433 MONDO:0018352 True papillary carcinoma of the penis squamous cell carcinoma of penis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004435 MONDO:0002397 True liver fibrosarcoma liver sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004435 MONDO:0005164 True liver fibrosarcoma fibrosarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004436 MONDO:0003589 True ovarian myxoid liposarcoma liposarcoma of the ovary UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0004436 MONDO:0013280 True ovarian myxoid liposarcoma myxoid liposarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0004438 MONDO:0004989 True sporadic breast cancer breast carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0004439 MONDO:0016642 True periocular meningioma meningioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004436 MONDO:0003589 True ovarian myxoid liposarcoma liposarcoma of the ovary UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004436 MONDO:0013280 True ovarian myxoid liposarcoma myxoid liposarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004438 MONDO:0004989 True sporadic breast cancer breast carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004439 MONDO:0016642 True periocular meningioma meningioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004440 MONDO:0021232 True pineal region meningioma pineal body neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004441 MONDO:0003581 True childhood ovarian embryonal carcinoma ovarian embryonal carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004441 MONDO:0003581 True childhood ovarian embryonal carcinoma ovarian embryonal carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004441 MONDO:0003760 True childhood ovarian embryonal carcinoma pediatric ovarian germ cell tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004441 MONDO:0004479 True childhood ovarian embryonal carcinoma malignant childhood germ cell neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004441 MONDO:0020577 True childhood ovarian embryonal carcinoma childhood gonadal germ cell tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004442 MONDO:0003510 True testis polyembryoma malignant testicular germ cell tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004442 MONDO:0003510 True testis polyembryoma malignant testicular germ cell tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004442 MONDO:0015863 True testis polyembryoma polyembryoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004443 MONDO:0006351 True chest wall parachordoma parachordoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004443 MONDO:0006351 True chest wall parachordoma parachordoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004443 MONDO:0021388 True chest wall parachordoma neoplasm of chest wall UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004444 MONDO:0003386 True bladder tubulo-cystic clear cell adenocarcinoma bladder clear cell adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0004445 MONDO:0003386 True bladder papillary clear cell adenocarcinoma bladder clear cell adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0004446 MONDO:0002997 True olfactory groove meningioma anterior cranial fossa meningioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004444 MONDO:0003386 True bladder tubulo-cystic clear cell adenocarcinoma bladder clear cell adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004445 MONDO:0003386 True bladder papillary clear cell adenocarcinoma bladder clear cell adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004446 MONDO:0002997 True olfactory groove meningioma anterior cranial fossa meningioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004447 MONDO:0002998 True pituitary stalk meningioma skull base meningioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004448 MONDO:0002537 True frontal sinus inverted papilloma inverted papilloma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004448 MONDO:0003752 True frontal sinus inverted papilloma frontal sinus Schneiderian papilloma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004449 MONDO:0004262 True intraductal breast myoepitheliosis breast myoepitheliosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0004450 MONDO:0003718 True carotid artery occlusion occlusion precerebral artery UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0004450 MONDO:0005269 True carotid artery occlusion carotid artery disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0004451 MONDO:0003210 True sarcomatous intrahepatic cholangiocarcinoma intrahepatic cholangiocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0004452 MONDO:0002999 True childhood central nervous system germinoma central nervous system germinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004449 MONDO:0004262 True intraductal breast myoepitheliosis breast myoepitheliosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004451 MONDO:0003210 True sarcomatous intrahepatic cholangiocarcinoma intrahepatic cholangiocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004452 MONDO:0002999 True childhood central nervous system germinoma central nervous system germinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004452 MONDO:0003750 True childhood central nervous system germinoma childhood central nervous system germ cell tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004452 MONDO:0004479 True childhood central nervous system germinoma malignant childhood germ cell neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004453 MONDO:0003402 True testicular yolk sac tumor, myxomatous pattern testicular yolk sac tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0004454 MONDO:0017043 True cellular congenital mesoblastic nephroma congenital mesoblastic nephroma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0004455 MONDO:0017043 True classic congenital mesoblastic nephroma congenital mesoblastic nephroma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0004456 MONDO:0002491 True cocaine abuse substance abuse UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004453 MONDO:0003402 True testicular yolk sac tumor, myxomatous pattern testicular yolk sac tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004454 MONDO:0017043 True cellular congenital mesoblastic nephroma congenital mesoblastic nephroma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004455 MONDO:0017043 True classic congenital mesoblastic nephroma congenital mesoblastic nephroma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004457 MONDO:0006353 True maxillary sinus Schneiderian papilloma paranasal sinus Schneiderian papilloma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0004457 MONDO:0021484 True maxillary sinus Schneiderian papilloma benign neoplasm of maxillary sinus UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004458 MONDO:0002751 True bladder mixed adenocarcinoma bladder adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0004459 MONDO:0002751 True bladder hepatoid adenocarcinoma bladder adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004458 MONDO:0002751 True bladder mixed adenocarcinoma bladder adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004459 MONDO:0002751 True bladder hepatoid adenocarcinoma bladder adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004459 MONDO:0006243 True bladder hepatoid adenocarcinoma hepatoid adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004460 MONDO:0005032 True thyroid gland fetal adenoma follicular thyroid adenoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0004461 MONDO:0003434 True vaginal tubulovillous adenoma vaginal adenoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0004462 MONDO:0003420 True extrahepatic bile duct cystadenoma bile duct cystadenoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0004463 MONDO:0009692 True cellular phase chronic idiopathic myelofibrosis primary myelofibrosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0004464 MONDO:0004177 True nephrogenic adenoma of the urethra benign urethral neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0004464 MONDO:0004191 True nephrogenic adenoma of the urethra nephrogenic adenoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0004465 MONDO:0002670 True periampullary adenocarcinoma ampulla of vater adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0004466 MONDO:0005071 True neuronitis nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0004467 MONDO:0003513 True mature gastric teratoma gastric teratoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004460 MONDO:0005032 True thyroid gland fetal adenoma follicular thyroid adenoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004461 MONDO:0003434 True vaginal tubulovillous adenoma vaginal adenoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004462 MONDO:0003420 True extrahepatic bile duct cystadenoma bile duct cystadenoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004463 MONDO:0009692 True cellular phase chronic idiopathic myelofibrosis primary myelofibrosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004464 MONDO:0004191 True nephrogenic adenoma of the urethra nephrogenic adenoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004466 MONDO:0005071 True neuronitis nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004467 MONDO:0003513 True mature gastric teratoma gastric teratoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004467 MONDO:0003517 True mature gastric teratoma mature teratoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004468 MONDO:0002651 True anal canal Paget disease anal Paget disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004468 MONDO:0002735 True anal canal Paget disease anal canal adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0004469 MONDO:0002529 True pseudovascular skin squamous cell carcinoma skin squamous cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004468 MONDO:0002735 True anal canal Paget disease anal canal adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004469 MONDO:0002529 True pseudovascular skin squamous cell carcinoma skin squamous cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004469 MONDO:0005056 True pseudovascular skin squamous cell carcinoma keratinizing squamous cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004472 MONDO:0002707 True breast columnar cell mucinous carcinoma breast mucinous carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004471 MONDO:0042485 True bacterial arthritis infective arthritis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0004472 MONDO:0002707 True breast columnar cell mucinous carcinoma breast mucinous carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004473 MONDO:0004109 True epiglottis cancer epiglottis neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004473 MONDO:0004357 True epiglottis cancer carcinoma of supraglottis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004474 MONDO:0004699 True gallbladder lymphoma gastrointestinal lymphoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004474 MONDO:0005411 True gallbladder lymphoma gallbladder cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0004475 MONDO:0006451 True thymus clear cell carcinoma thymic carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004474 MONDO:0005411 True gallbladder lymphoma gallbladder cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004475 MONDO:0006451 True thymus clear cell carcinoma thymic carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004477 MONDO:0003327 True adrenal gland ganglioneuroblastoma peripheral ganglioneuroblastoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004477 MONDO:0021089 True adrenal gland ganglioneuroblastoma peripheral nervous system cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004478 MONDO:0003864 True pregerminal center chronic lymphocytic leukemia/small lymphocytic lymphoma chronic lymphocytic leukemia/small lymphocytic lymphoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0004479 MONDO:0003751 True malignant childhood germ cell neoplasm childhood germ cell tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004478 MONDO:0003864 True pregerminal center chronic lymphocytic leukemia/small lymphocytic lymphoma chronic lymphocytic leukemia/small lymphocytic lymphoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004479 MONDO:0003751 True malignant childhood germ cell neoplasm childhood germ cell tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004479 MONDO:0006290 True malignant childhood germ cell neoplasm malignant germ cell tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0004479 MONDO:0006517 True malignant childhood germ cell neoplasm childhood malignant neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004481 MONDO:0004285 True pancreatic intraductal papillary-mucinous neoplasm with an associated invasive carcinoma pancreatic intraductal papillary-mucinous carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0004481 MONDO:0004286 True pancreatic intraductal papillary-mucinous neoplasm with an associated invasive carcinoma pancreatic intraductal papillary-mucinous neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0004481 MONDO:0006047 True pancreatic intraductal papillary-mucinous neoplasm with an associated invasive carcinoma pancreatic adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004481 MONDO:0004286 True pancreatic intraductal papillary-mucinous neoplasm with an associated invasive carcinoma pancreatic intraductal papillary-mucinous neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004481 MONDO:0006047 True pancreatic intraductal papillary-mucinous neoplasm with an associated invasive carcinoma pancreatic adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004482 MONDO:0044335 True fibroosseous pseudotumor of the digits benign soft tissue neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0004483 MONDO:0003424 True thyroid gland oncocytic adenoma oncocytic adenoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004483 MONDO:0005032 True thyroid gland oncocytic adenoma follicular thyroid adenoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0004484 MONDO:0005411 True gallbladder melanoma gallbladder cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004483 MONDO:0005032 True thyroid gland oncocytic adenoma follicular thyroid adenoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004484 MONDO:0005411 True gallbladder melanoma gallbladder cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004484 MONDO:0045070 True gallbladder melanoma digestive system melanoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004485 MONDO:0004496 True interstitial myocarditis myocarditis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0004486 MONDO:0003238 True endocervical type cervical adenomyoma cervical adenomyoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0004487 MONDO:0003238 True endometrial type cervical adenomyoma cervical adenomyoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0004488 MONDO:0003238 True cervical atypical polypoid adenomyoma cervical adenomyoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0004489 MONDO:0006206 True fallopian tube gestational choriocarcinoma fallopian tube carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0004489 MONDO:0020550 True fallopian tube gestational choriocarcinoma gestational choriocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0004490 MONDO:0004491 True gestational uterine corpus choriocarcinoma uterine corpus choriocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0004490 MONDO:0020550 True gestational uterine corpus choriocarcinoma gestational choriocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0004491 MONDO:0005207 True uterine corpus choriocarcinoma choriocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0004493 MONDO:0003402 True testicular yolk sac tumor, papillary pattern testicular yolk sac tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0004494 MONDO:0003402 True testicular yolk sac tumor, hepatoid pattern testicular yolk sac tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0004495 MONDO:0005129 True myotonic cataract cataract UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0004497 MONDO:0005976 True tertiary syphilis syphilis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0004498 MONDO:0001279 True sacral spinal canal and spinal cord meningioma intraspinal meningioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0004499 MONDO:0004332 True lung hilum carcinoma lung hilum cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0004499 MONDO:0005138 True lung hilum carcinoma lung carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0004500 MONDO:0006883 True lung superior sulcus carcinoma malignant superior sulcus neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0004501 MONDO:0003461 True fallopian tube cystadenofibroma fallopian tube serous adenofibroma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004485 MONDO:0004496 True interstitial myocarditis myocarditis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004486 MONDO:0003238 True endocervical type cervical adenomyoma cervical adenomyoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004487 MONDO:0003238 True endometrial type cervical adenomyoma cervical adenomyoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004488 MONDO:0003238 True cervical atypical polypoid adenomyoma cervical adenomyoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004489 MONDO:0006206 True fallopian tube gestational choriocarcinoma fallopian tube carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004489 MONDO:0020550 True fallopian tube gestational choriocarcinoma gestational choriocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004491 MONDO:0005207 True uterine corpus choriocarcinoma choriocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004493 MONDO:0003402 True testicular yolk sac tumor, papillary pattern testicular yolk sac tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004494 MONDO:0003402 True testicular yolk sac tumor, hepatoid pattern testicular yolk sac tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004495 MONDO:0005129 True myotonic cataract cataract UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004495 MONDO:0016107 True myotonic cataract myotonic dystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004496 MONDO:0024643 True myocarditis myocardial disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0004497 MONDO:0005976 True tertiary syphilis syphilis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004498 MONDO:0001279 True sacral spinal canal and spinal cord meningioma intraspinal meningioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004499 MONDO:0004332 True lung hilum carcinoma lung hilum cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004499 MONDO:0005138 True lung hilum carcinoma lung carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004500 MONDO:0006883 True lung superior sulcus carcinoma malignant superior sulcus neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004501 MONDO:0003461 True fallopian tube cystadenofibroma fallopian tube serous adenofibroma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004501 MONDO:0003464 True fallopian tube cystadenofibroma cystadenofibroma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004502 MONDO:0016642 True parapharyngeal meningioma meningioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0004503 MONDO:0003908 True upper clivus meningioma clivus meningioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0004504 MONDO:0004197 True penile urethral cancer male urethral cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0004505 MONDO:0021097 True central breast papilloma intraductal breast papilloma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0004506 MONDO:0021097 True microscopic breast papilloma intraductal breast papilloma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0004507 MONDO:0021097 True atypical breast papilloma intraductal breast papilloma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0004508 MONDO:0005076 True periapical periodontitis periodontitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0004509 MONDO:0003455 True intrahepatic biliary papillomatosis bile duct papillary neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0004510 MONDO:0006097 True inflammatory liposarcoma atypical lipomatous tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0004511 MONDO:0003908 True lower clivus meningioma clivus meningioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004503 MONDO:0003908 True upper clivus meningioma clivus meningioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004504 MONDO:0004197 True penile urethral cancer male urethral cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004505 MONDO:0021097 True central breast papilloma intraductal breast papilloma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004506 MONDO:0021097 True microscopic breast papilloma intraductal breast papilloma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004507 MONDO:0021097 True atypical breast papilloma intraductal breast papilloma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004509 MONDO:0003455 True intrahepatic biliary papillomatosis bile duct papillary neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004510 MONDO:0006097 True inflammatory liposarcoma atypical lipomatous tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004511 MONDO:0003908 True lower clivus meningioma clivus meningioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004512 MONDO:0004141 True meningeal melanomatosis melanomatosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004512 MONDO:0016747 True meningeal melanomatosis primary melanoma of the central nervous system UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0004512 MONDO:0021322 True meningeal melanomatosis malignant tumor of meninges UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004513 MONDO:0017386 True adult pleomorphic rhabdomyosarcoma pleomorphic rhabdomyosarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0004514 MONDO:0003014 True chronic rhinitis rhinitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0004516 MONDO:0004197 True bulbomembranous urethral cancer male urethral cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0004517 MONDO:0001926 True ureter tuberculosis ureteral disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0004517 MONDO:0006002 True ureter tuberculosis urogenital tuberculosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0004518 MONDO:0004192 True anterior urethra cancer urethra cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0004519 MONDO:0006500 True synovial angioma hemangioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004513 MONDO:0017386 True adult pleomorphic rhabdomyosarcoma pleomorphic rhabdomyosarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004514 MONDO:0003014 True chronic rhinitis rhinitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004516 MONDO:0004197 True bulbomembranous urethral cancer male urethral cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004518 MONDO:0004192 True anterior urethra cancer urethra cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004519 MONDO:0006500 True synovial angioma hemangioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004519 MONDO:0024715 True synovial angioma benign synovial neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004520 MONDO:0006446 True intratubular embryonal carcinoma testicular embryonal carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0004521 MONDO:0017387 True adult epithelioid sarcoma epithelioid sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0004522 MONDO:0004335 True peritonitis digestive system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0004523 MONDO:0002529 True clear cell squamous cell skin carcinoma skin squamous cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004520 MONDO:0006446 True intratubular embryonal carcinoma testicular embryonal carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004521 MONDO:0017387 True adult epithelioid sarcoma epithelioid sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004523 MONDO:0002529 True clear cell squamous cell skin carcinoma skin squamous cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004523 MONDO:0005056 True clear cell squamous cell skin carcinoma keratinizing squamous cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004524 MONDO:0005032 True thyroid gland atypical follicular adenoma follicular thyroid adenoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0004525 MONDO:0004389 True scabies mite infestation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004525 MONDO:0021201 True scabies skin infection UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0004526 MONDO:0006424 True mixed endometrial stromal and smooth muscle tumor soft tissue neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0004526 MONDO:0021254 True mixed endometrial stromal and smooth muscle tumor corpus uteri neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0004528 MONDO:0040675 True lymph node palisaded myofibroblastoma myofibroblastoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0004529 MONDO:0037745 True non-ossifying fibromyxoid tumor fibromyxoid tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004530 MONDO:0005153 True early invasive cervical adenocarcinoma cervical adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0004531 MONDO:0002585 True sclerosing adenosis of breast breast fibrocystic change, proliferative type UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0004532 MONDO:0000649 True auditory system cancer sensory system cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0004532 MONDO:0002409 True auditory system cancer auditory system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004530 MONDO:0005153 True early invasive cervical adenocarcinoma cervical adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004531 MONDO:0002585 True sclerosing adenosis of breast breast fibrocystic change, proliferative type UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004531 MONDO:0003725 True sclerosing adenosis of breast breast adenosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004533 MONDO:0003096 True perineural angioma deep hemangioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004534 MONDO:0003725 True microglandular adenosis of breast breast adenosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004534 MONDO:0003725 True microglandular adenosis of breast breast adenosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004535 MONDO:0003760 True childhood choriocarcinoma of the ovary pediatric ovarian germ cell tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004535 MONDO:0004322 True childhood choriocarcinoma of the ovary non-gestational ovarian choriocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004535 MONDO:0004479 True childhood choriocarcinoma of the ovary malignant childhood germ cell neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004535 MONDO:0020577 True childhood choriocarcinoma of the ovary childhood gonadal germ cell tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004537 MONDO:0002742 True intestinal variant cervical mucinous adenocarcinoma cervical mucinous adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004537 MONDO:0002742 True intestinal variant cervical mucinous adenocarcinoma cervical mucinous adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004537 MONDO:0006254 True intestinal variant cervical mucinous adenocarcinoma intestinal type adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004538 MONDO:0002742 True endocervical type cervical mucinous adenocarcinoma cervical mucinous adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0004539 MONDO:0005561 True aortic malignant tumor aortic disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0004539 MONDO:0040676 True aortic malignant tumor great vessel cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004540 MONDO:0017827 True epithelioid malignant peripheral nerve sheath tumor malignant peripheral nerve sheath tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0004541 MONDO:0003669 True pseudoglandular variant testicular seminoma testicular seminoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0004542 MONDO:0006134 True cervical adenosquamous carcinoma, glassy cell variant cervical adenosquamous carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0004543 MONDO:0003402 True enteric pattern testicular yolk sac tumor testicular yolk sac tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004540 MONDO:0017827 True epithelioid malignant peripheral nerve sheath tumor malignant peripheral nerve sheath tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004541 MONDO:0003669 True pseudoglandular variant testicular seminoma testicular seminoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004542 MONDO:0006134 True cervical adenosquamous carcinoma, glassy cell variant cervical adenosquamous carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004543 MONDO:0003402 True enteric pattern testicular yolk sac tumor testicular yolk sac tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004544 MONDO:0045056 True chordoid meningioma grade II meningioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004545 MONDO:0017827 True adult malignant schwannoma malignant peripheral nerve sheath tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0004546 MONDO:0003100 True lumbar plexus neoplasm nerve plexus neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0004547 MONDO:0003402 True reticular pattern testicular yolk sac tumor testicular yolk sac tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0004548 MONDO:0003395 True adult type testicular granulosa cell tumor testicular granulosa cell tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0004549 MONDO:0017853 True cork-handlers' disease hypersensitivity pneumonitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0004550 MONDO:0003802 True malignant cornea melanoma cornea cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004545 MONDO:0017827 True adult malignant schwannoma malignant peripheral nerve sheath tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004546 MONDO:0003100 True lumbar plexus neoplasm nerve plexus neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004547 MONDO:0003402 True reticular pattern testicular yolk sac tumor testicular yolk sac tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004548 MONDO:0003395 True adult type testicular granulosa cell tumor testicular granulosa cell tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004550 MONDO:0003802 True malignant cornea melanoma cornea cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004550 MONDO:0006325 True malignant cornea melanoma ocular melanoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004552 MONDO:0006143 True microinvasive cervical squamous cell carcinoma cervical squamous cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004552 MONDO:0006143 True microinvasive cervical squamous cell carcinoma cervical squamous cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004554 MONDO:0002730 True childhood kidney angiomyolipoma childhood kidney neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004554 MONDO:0004555 True childhood kidney angiomyolipoma kidney angiomyolipoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0004555 MONDO:0002513 True kidney angiomyolipoma kidney benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004554 MONDO:0004555 True childhood kidney angiomyolipoma kidney angiomyolipoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004555 MONDO:0002603 True kidney angiomyolipoma angiomyolipoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004556 MONDO:0003212 True carcinoma arising in nasal papillomatosis nasal cavity carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0004557 MONDO:0002678 True congenital fibrosarcoma pediatric fibrosarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0004558 MONDO:0005032 True thyroid gland macrofollicular adenoma follicular thyroid adenoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0004559 MONDO:0017827 True malignant glandular tumor of peripheral nerve sheath malignant peripheral nerve sheath tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0004560 MONDO:0003413 True follicular infundibulum tumor hair follicle neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0004561 MONDO:0003072 True retinal melanoma retinal cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004556 MONDO:0003212 True carcinoma arising in nasal papillomatosis nasal cavity carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004558 MONDO:0005032 True thyroid gland macrofollicular adenoma follicular thyroid adenoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004559 MONDO:0017827 True malignant glandular tumor of peripheral nerve sheath malignant peripheral nerve sheath tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004560 MONDO:0003413 True follicular infundibulum tumor hair follicle neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004561 MONDO:0003072 True retinal melanoma retinal cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004561 MONDO:0006325 True retinal melanoma ocular melanoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004562 MONDO:0004658 True breast apocrine carcinoma in situ breast carcinoma in situ UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0004563 MONDO:0005571 True physiological polycythemia polycythemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0004564 MONDO:0003240 True thyroid malformation thyroid gland disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0004565 MONDO:0005020 True intestinal obstruction intestinal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0004566 MONDO:0001318 True postgastrectomy syndrome functional gastric disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0004566 MONDO:0005020 True postgastrectomy syndrome intestinal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0004567 MONDO:0004565 True ileus intestinal obstruction UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0004569 MONDO:0006683 True brachial plexus neuropathy from injury brachial plexus neuropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0004570 MONDO:0004565 True intestinal volvulus intestinal obstruction UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0004571 MONDO:0004565 True intestinal impaction intestinal obstruction UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0004572 MONDO:0005371 True cyclothymic disorder mood disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0004573 MONDO:0006873 True ariboflavinosis nutritional deficiency disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0004575 MONDO:0006873 True choline deficiency disease nutritional deficiency disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0004577 MONDO:0003085 True corneal ulcer keratitis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0004578 MONDO:0004579 True flat retinoschisis retinoschisis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0004579 MONDO:0004580 True retinoschisis retinal degeneration UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0004580 MONDO:0005283 True retinal degeneration retinal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0004582 MONDO:0004496 True rheumatic myocarditis myocarditis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0004583 MONDO:0006948 True transient retinal arterial occlusion retinal artery occlusion UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0004584 MONDO:0002312 True maple bark strippers' lung opportunistic mycosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0004586 MONDO:0005275 True rheumatoid lung disease lung disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0004586 MONDO:0007179 True rheumatoid lung disease autoimmune disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0004587 MONDO:0004588 True hereditary night blindness night blindness UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0004588 MONDO:0005283 True night blindness retinal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0004591 MONDO:0004592 True impetigo herpetiformis impetigo UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0004592 MONDO:0002922 True impetigo pyoderma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0004593 MONDO:0002263 True Bartholin duct cyst female reproductive system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0004594 MONDO:0005279 True puerperal pulmonary embolism pulmonary embolism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0004596 MONDO:0005009 True cor pulmonale congestive heart failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0004598 MONDO:0004596 True acute cor pulmonale cor pulmonale UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0004599 MONDO:0002491 True barbiturate abuse substance abuse UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0004600 MONDO:0005059 True monocytic leukemia leukemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0004601 MONDO:0004605 True ulcer of lower limbs chronic ulcer of skin UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0004604 MONDO:0009348 True Hodgkin's lymphoma, lymphocytic-histiocytic predominance classic Hodgkin lymphoma UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004605 MONDO:0005093 True chronic ulcer of skin skin disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0004607 MONDO:0004608 True vallecula cancer oropharynx cancer SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0004608 MONDO:0005517 True oropharynx cancer pharynx cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004563 MONDO:0005571 True physiological polycythemia polycythemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004568 MONDO:0004567 True paralytic ileus ileus UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004572 MONDO:0005371 True cyclothymic disorder mood disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004574 MONDO:0042976 True pyridoxine deficiency anemia vitamin B deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0004577 MONDO:0003085 True corneal ulcer keratitis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004580 MONDO:0005283 True retinal degeneration retinal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004582 MONDO:0004496 True rheumatic myocarditis myocarditis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004582 MONDO:0006955 True rheumatic myocarditis rheumatic heart disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004583 MONDO:0006948 True transient retinal arterial occlusion retinal artery occlusion UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004588 MONDO:0001941 True night blindness blindness (disorder) UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004592 MONDO:0021201 True impetigo skin infection UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0004597 MONDO:0005275 True pulmonary embolism and infarction lung disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004604 MONDO:0009348 True Hodgkin's lymphoma, lymphocytic-histiocytic predominance classic Hodgkin lymphoma UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0004607 MONDO:0004608 True vallecula cancer oropharynx cancer SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004608 MONDO:0005517 True oropharynx cancer pharynx cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004608 MONDO:0021364 True oropharynx cancer neoplasm of oropharynx UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0004611 MONDO:0004608 True soft palate cancer oropharynx cancer UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004611 MONDO:0005286 True soft palate cancer palatal neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004611 MONDO:0005515 True soft palate cancer oral cavity cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0004612 MONDO:0002637 True malignant histiocytosis histiocytosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0004614 MONDO:0004600 True chronic monocytic leukemia monocytic leukemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0004615 MONDO:0005507 True upper gum cancer gingival cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0004616 MONDO:0004609 True herpetic whitlow herpes simplex infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0004617 MONDO:0003406 True recurrent hypersomnia sleep-wake disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0004618 MONDO:0005071 True diplegia of upper limb nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0004620 MONDO:0009348 True Hodgkin's lymphoma, lymphocytic depletion classic Hodgkin lymphoma UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004621 MONDO:0006834 True upper lip cancer lip cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0004622 MONDO:0005020 True chronic intestinal vascular insufficiency intestinal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0004624 MONDO:0004611 True uvula cancer soft palate cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0004625 MONDO:0004634 True phlebitis vein disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0004630 MONDO:0005485 True substance-induced psychosis psychotic disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0004631 MONDO:0005515 True tongue cancer oral cavity cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004611 MONDO:0005515 True soft palate cancer oral cavity cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004613 MONDO:0020675 True acute intestinal ischemia ischemic bowel disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0004616 MONDO:0005898 True herpetic whitlow paronychia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004617 MONDO:0003406 True recurrent hypersomnia sleep-wake disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004620 MONDO:0009348 True Hodgkin's lymphoma, lymphocytic depletion classic Hodgkin lymphoma UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0004624 MONDO:0004611 True uvula cancer soft palate cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004625 MONDO:0004634 True phlebitis vein disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004627 MONDO:0043579 True duodenitis enteritis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0004631 MONDO:0005515 True tongue cancer oral cavity cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004631 MONDO:0005627 True tongue cancer head and neck cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004631 MONDO:0021240 True tongue cancer tongue neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004633 MONDO:0009348 True Hodgkin's lymphoma, mixed cellularity classic Hodgkin lymphoma UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004634 MONDO:0005385 True vein disorder vascular disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0004635 MONDO:0005806 True postcricoid region cancer hypopharynx cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0004636 MONDO:0000371 True lip carcinoma in situ oral cavity carcinoma in situ UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004633 MONDO:0009348 True Hodgkin's lymphoma, mixed cellularity classic Hodgkin lymphoma UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0004634 MONDO:0005385 True vein disorder vascular disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004635 MONDO:0005806 True postcricoid region cancer hypopharynx cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004636 MONDO:0021333 True lip carcinoma in situ carcinoma of lip UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004637 MONDO:0005806 True aryepiglottic fold cancer hypopharynx cancer SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0004640 MONDO:0004966 True alcoholic gastritis gastritis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004637 MONDO:0005806 True aryepiglottic fold cancer hypopharynx cancer SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004640 MONDO:0004966 True alcoholic gastritis gastritis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004641 MONDO:0002656 True skin carcinoma in situ skin carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004641 MONDO:0004647 True skin carcinoma in situ in situ carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004641 MONDO:0004647 True skin carcinoma in situ in situ carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004642 MONDO:0006998 True tonsillar pillar cancer tonsil cancer SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004643 MONDO:0005059 True myeloid leukemia leukemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0004645 MONDO:0005515 True cheek mucosa cancer oral cavity cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004643 MONDO:0005059 True myeloid leukemia leukemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004645 MONDO:0005515 True cheek mucosa cancer oral cavity cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004645 MONDO:0005627 True cheek mucosa cancer head and neck cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004645 MONDO:0021241 True cheek mucosa cancer buccal mucosa neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004646 MONDO:0004605 True decubitus ulcer chronic ulcer of skin UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0004647 MONDO:0004993 True in situ carcinoma carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004647 MONDO:0021074 True in situ carcinoma precancerous condition UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004648 MONDO:0001627 True vascular dementia dementia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0004649 MONDO:0004652 True anaerobic pneumonia bacterial pneumonia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0004650 MONDO:0002095 True malignant carotid body paraganglioma vascular cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004648 MONDO:0001627 True vascular dementia dementia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004650 MONDO:0005627 True malignant carotid body paraganglioma head and neck cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004650 MONDO:0021053 True malignant carotid body paraganglioma carotid body paraganglioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0004650 MONDO:0021069 True malignant carotid body paraganglioma malignant endocrine neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004650 MONDO:0021089 True malignant carotid body paraganglioma peripheral nervous system cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004652 MONDO:0005113 True bacterial pneumonia bacterial infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0004652 MONDO:0005249 True bacterial pneumonia pneumonia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0004653 MONDO:0006311 True atypical chronic myeloid leukemia, BCR-ABL1 negative myelodysplastic/myeloproliferative neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0004653 MONDO:0020077 True atypical chronic myeloid leukemia, BCR-ABL1 negative myelodysplastic/myeloproliferative disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004657 MONDO:0004674 True disseminated chorioretinitis chorioretinitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0004658 MONDO:0004647 True breast carcinoma in situ in situ carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004652 MONDO:0005113 True bacterial pneumonia bacterial infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004652 MONDO:0005249 True bacterial pneumonia pneumonia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004653 MONDO:0006311 True atypical chronic myeloid leukemia, BCR-ABL1 negative myelodysplastic/myeloproliferative neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004658 MONDO:0004647 True breast carcinoma in situ in situ carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004658 MONDO:0004989 True breast carcinoma in situ breast carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004659 MONDO:0004647 True eye carcinoma in situ in situ carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0004660 MONDO:0004647 True lung carcinoma in situ in situ carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004660 MONDO:0004647 True lung carcinoma in situ in situ carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004660 MONDO:0005138 True lung carcinoma in situ lung carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004661 MONDO:0001419 True trachea carcinoma in situ trachea squamous cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004661 MONDO:0004693 True trachea carcinoma in situ squamous carcinoma in situ UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004662 MONDO:0004664 True heterophyiasis helminthiasis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0004663 MONDO:0002032 True colon carcinoma in situ colon carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004663 MONDO:0004698 True colon carcinoma in situ intestine carcinoma in situ UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0004664 MONDO:0005135 True helminthiasis parasitic infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004664 MONDO:0005135 True helminthiasis parasitic infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004665 MONDO:0009348 True nodular sclerosis classical Hodgkin lymphoma classic Hodgkin lymphoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004666 MONDO:0004664 True metagonimiasis helminthiasis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0004667 MONDO:0021242 True sublingual gland cancer sublingual gland neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0004667 MONDO:0044743 True sublingual gland cancer major salivary gland cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004668 MONDO:0004664 True fascioliasis helminthiasis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0004669 MONDO:0005515 True salivary gland cancer oral cavity cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004668 MONDO:0004664 True fascioliasis helminthiasis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004669 MONDO:0005627 True salivary gland cancer head and neck cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004669 MONDO:0021357 True salivary gland cancer tumor of salivary gland UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004670 MONDO:0007179 True lupus erythematosus autoimmune disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004670 MONDO:0005554 True lupus erythematosus rheumatic disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004670 MONDO:0007179 True lupus erythematosus autoimmune disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004671 MONDO:0004693 True penis carcinoma in situ squamous carcinoma in situ UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0004671 MONDO:0018352 True penis carcinoma in situ squamous cell carcinoma of penis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004672 MONDO:0004664 True fasciolopsiasis helminthiasis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0004673 MONDO:0006834 True lower lip cancer lip cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0004675 MONDO:0009637 True mitochondrial encephalomyopathy inborn mitochondrial myopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0004677 MONDO:0024268 True tinea nigra superficial mycosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0004679 MONDO:0001433 True leukoplakia of vagina vaginal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0004680 MONDO:0000602 True primary thrombocytopenia autoimmune disorder of blood UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0004681 MONDO:0000592 True learning disability specific developmental disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0004682 MONDO:0005515 True retromolar area cancer oral cavity cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0004684 MONDO:0016037 True plantar fibromatosis superficial Fibromatosis UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004685 MONDO:0000621 True Waldeyer's ring cancer immune system cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0004685 MONDO:0004608 True Waldeyer's ring cancer oropharynx cancer UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0004689 MONDO:0019052 True inborn metal metabolism disorder inborn errors of metabolism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004672 MONDO:0004664 True fasciolopsiasis helminthiasis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004674 MONDO:0020283 True chorioretinitis uveitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004679 MONDO:0043243 True leukoplakia of vagina leukoplakia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0004684 MONDO:0016037 True plantar fibromatosis superficial Fibromatosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0004690 MONDO:0006998 True tonsillar fossa cancer tonsil cancer SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004691 MONDO:0000426 True autosomal dominant polycystic kidney disease autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0004691 MONDO:0020642 True autosomal dominant polycystic kidney disease polycystic kidney disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004691 MONDO:0020642 True autosomal dominant polycystic kidney disease polycystic kidney disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004693 MONDO:0004647 True squamous carcinoma in situ in situ carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0004693 MONDO:0005096 True squamous carcinoma in situ squamous cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004694 MONDO:0005154 True hepatopulmonary syndrome liver disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0004695 MONDO:0002691 True liver lymphoma liver cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004694 MONDO:0005154 True hepatopulmonary syndrome liver disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004695 MONDO:0002691 True liver lymphoma liver cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004695 MONDO:0004699 True liver lymphoma gastrointestinal lymphoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004696 MONDO:0002358 True larynx carcinoma in situ laryngeal carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004696 MONDO:0004647 True larynx carcinoma in situ in situ carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0004697 MONDO:0003749 True esophageal leukoplakia esophageal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0004698 MONDO:0004647 True intestine carcinoma in situ in situ carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0004699 MONDO:0002516 True gastrointestinal lymphoma digestive system cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0004699 MONDO:0005062 True gastrointestinal lymphoma lymphoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004696 MONDO:0004647 True larynx carcinoma in situ in situ carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004697 MONDO:0043243 True esophageal leukoplakia leukoplakia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0004699 MONDO:0002516 True gastrointestinal lymphoma digestive system cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004699 MONDO:0005062 True gastrointestinal lymphoma lymphoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004700 MONDO:0021243 True parotid gland cancer parotid gland neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0004700 MONDO:0044743 True parotid gland cancer major salivary gland cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004701 MONDO:0002654 True uterine polyp uterine disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0004701 MONDO:0005079 True uterine polyp polyp SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004702 MONDO:0002256 True uterine cervix leukoplakia cervix disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004701 MONDO:0002654 True uterine polyp uterine disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004701 MONDO:0005079 True uterine polyp polyp SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0004702 MONDO:0043243 True uterine cervix leukoplakia leukoplakia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0004703 MONDO:0003930 True bladder carcinoma in situ non-invasive bladder urothelial carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004703 MONDO:0004647 True bladder carcinoma in situ in situ carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004703 MONDO:0004647 True bladder carcinoma in situ in situ carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004703 MONDO:0006111 True bladder carcinoma in situ bladder flat intraepithelial lesion UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004705 MONDO:0016238 True liver solitary fibrous tumor solitary fibrous tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004705 MONDO:0024477 True liver solitary fibrous tumor liver and intrahepatic bile duct neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0004706 MONDO:0002137 True discoid lupus erythematosus of eyelid noninfectious dermatoses of eyelid UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004705 MONDO:0024477 True liver solitary fibrous tumor liver and intrahepatic bile duct neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004707 MONDO:0007108 True anal canal carcinoma in situ anal canal carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004708 MONDO:0004647 True esophagus carcinoma in situ in situ carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004708 MONDO:0004647 True esophagus carcinoma in situ in situ carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004708 MONDO:0019086 True esophagus carcinoma in situ carcinoma of esophagus UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004709 MONDO:0021374 True occipital lobe neoplasm neoplasm of cerebral hemisphere UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004710 MONDO:0004647 True uterus carcinoma in situ in situ carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0004712 MONDO:0004609 True herpes simplex dermatitis herpes simplex infectious disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0004713 MONDO:0005507 True lower gum cancer gingival cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0004714 MONDO:0003939 True atrophic muscular disease muscle tissue disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0004714 MONDO:0019056 True atrophic muscular disease neuromuscular disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0004715 MONDO:0004647 True liver carcinoma in situ in situ carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0004716 MONDO:0004647 True stomach carcinoma in situ in situ carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004712 MONDO:0004609 True herpes simplex dermatitis herpes simplex infectious disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004712 MONDO:0021201 True herpes simplex dermatitis skin infection UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0004716 MONDO:0004647 True stomach carcinoma in situ in situ carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004716 MONDO:0004950 True stomach carcinoma in situ gastric carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004717 MONDO:0002405 True peliosis hepatis hepatic vascular disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0004718 MONDO:0002137 True xeroderma of eyelid noninfectious dermatoses of eyelid UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0004719 MONDO:0005286 True hard palate cancer palatal neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004719 MONDO:0005515 True hard palate cancer oral cavity cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0004720 MONDO:0004651 True variola minor infection smallpox UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0004723 MONDO:0000385 True liver leiomyoma benign digestive system neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0004723 MONDO:0000627 True liver leiomyoma benign endocrine neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004719 MONDO:0005515 True hard palate cancer oral cavity cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004719 MONDO:0005627 True hard palate cancer head and neck cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004720 MONDO:0004651 True variola minor infection smallpox UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004723 MONDO:0000385 True liver leiomyoma benign digestive system neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004723 MONDO:0001572 True liver leiomyoma leiomyoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004723 MONDO:0024477 True liver leiomyoma liver and intrahepatic bile duct neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004723 MONDO:0024477 True liver leiomyoma liver and intrahepatic bile duct neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004724 MONDO:0006284 True submandibular gland cancer major salivary gland carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0004724 MONDO:0021244 True submandibular gland cancer submandibular gland neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0004725 MONDO:0044937 True rectum carcinoma in situ rectal carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0004726 MONDO:0015798 True liver inflammatory myofibroblastic tumor inflammatory myofibroblastic tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004726 MONDO:0024477 True liver inflammatory myofibroblastic tumor liver and intrahepatic bile duct neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004727 MONDO:0005515 True vestibule of mouth cancer oral cavity cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0004728 MONDO:0005266 True diabetic macular edema diabetic retinopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0004729 MONDO:0003749 True dyskinesia of esophagus esophageal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0004730 MONDO:0002182 True speech disorder communication disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0004731 MONDO:0005296 True central sleep apnea syndrome sleep apnea syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0004732 MONDO:0004647 True kidney carcinoma in situ in situ carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0004733 MONDO:0005806 True pyriform sinus cancer hypopharynx cancer UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0004736 MONDO:0019052 True inborn disorder of amino acid metabolism inborn errors of metabolism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0004737 MONDO:0004736 True homocystinuria inborn disorder of amino acid metabolism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0004739 MONDO:0004736 True urea cycle disorder inborn disorder of amino acid metabolism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0004739 MONDO:0019189 True urea cycle disorder inborn disorder of amino acid and other organic acid metabolism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004744 MONDO:0005041 True borderline glaucoma glaucoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0004745 MONDO:0005294 True priapism peripheral vascular disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0004746 MONDO:0005336 True myopathy of extraocular muscle myopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0004747 MONDO:0000358 True cleft lip orofacial cleft UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0004748 MONDO:0006858 True lip disorder mouth disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0004749 MONDO:0001340 True myocardium cancer heart cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004730 MONDO:0002182 True speech disorder communication disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004731 MONDO:0002254 True central sleep apnea syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004733 MONDO:0005806 True pyriform sinus cancer hypopharynx cancer UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004737 MONDO:0037871 True homocystinuria amino acid metabolism disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0004743 MONDO:0004737 True hyperhomocysteinemia homocystinuria UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004748 MONDO:0006858 True lip disorder mouth disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004749 MONDO:0001340 True myocardium cancer heart cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004749 MONDO:0021380 True myocardium cancer neoplasm of myocardium UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004750 MONDO:0002182 True language disorder communication disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0004752 MONDO:0016755 True neurofibroma of the heart neurofibroma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0004753 MONDO:0003432 True mechanical strabismus strabismus UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0004754 MONDO:0001593 True rectal prolapse rectal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0004755 MONDO:0004664 True monieziasis helminthiasis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0004756 MONDO:0002232 True nasal cavity neoplasm nasal cavity disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004752 MONDO:0016755 True neurofibroma of the heart neurofibroma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004756 MONDO:0002232 True nasal cavity neoplasm nasal cavity disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004756 MONDO:0005586 True nasal cavity neoplasm head and neck neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004757 MONDO:0005756 True chronic ethmoidal sinusitis ethmoid sinusitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0004758 MONDO:0005328 True scotoma eye disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0004759 MONDO:0000596 True zoophilia paraphilic disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0004760 MONDO:0004184 True urethral false passage urethral disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0004762 MONDO:0002654 True Taylor syndrome uterine disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0004763 MONDO:0005269 True carotid artery dissection carotid artery disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0004764 MONDO:0002183 True fibular collateral ligament bursitis enthesopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0004765 MONDO:0004979 True intrinsic asthma asthma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0004766 MONDO:0004979 True status asthmaticus asthma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004757 MONDO:0005756 True chronic ethmoidal sinusitis ethmoid sinusitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004757 MONDO:0006031 True chronic ethmoidal sinusitis chronic rhinosinusitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0004763 MONDO:0005269 True carotid artery dissection carotid artery disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004766 MONDO:0004979 True status asthmaticus asthma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004768 MONDO:0003085 True keratoconjunctivitis keratitis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004769 MONDO:0001849 True orbital plasma cell granuloma chronic orbital inflammation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0004772 MONDO:0004773 True glaucomatocyclitic crisis iridocyclitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0004773 MONDO:0006651 True iridocyclitis anterior uveitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0004775 MONDO:0004773 True lens-induced iridocyclitis iridocyclitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0004777 MONDO:0002647 True acute laryngitis laryngitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0004778 MONDO:0004779 True epididymo-orchitis epididymitis UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0004779 MONDO:0003150 True epididymitis male reproductive system disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0004780 MONDO:0004781 True strictly posterior acute myocardial infarction acute myocardial infarction UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0004781 MONDO:0005068 True acute myocardial infarction myocardial infarction SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0004782 MONDO:0005240 True diabetes insipidus kidney disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0004784 MONDO:0000771 True allergic asthma allergic respiratory disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0004784 MONDO:0004979 True allergic asthma asthma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0004785 MONDO:0003382 True blepharitis eyelid disorder UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0004786 MONDO:0004789 True chronic cholangitis cholangitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0004787 MONDO:0000644 True cervical mullerian papilloma cervical benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004769 MONDO:0021167 True orbital plasma cell granuloma myositis disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004773 MONDO:0006651 True iridocyclitis anterior uveitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004777 MONDO:0002647 True acute laryngitis laryngitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004779 MONDO:0003150 True epididymitis male reproductive system disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004781 MONDO:0005068 True acute myocardial infarction myocardial infarction SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004786 MONDO:0004789 True chronic cholangitis cholangitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004787 MONDO:0000644 True cervical mullerian papilloma cervical benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004787 MONDO:0002363 True cervical mullerian papilloma papilloma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004788 MONDO:0000644 True cervix squamous papilloma cervical benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004788 MONDO:0000644 True cervix squamous papilloma cervical benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004788 MONDO:0001825 True cervix squamous papilloma squamous papilloma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004794 MONDO:0004768 True exposure keratitis keratoconjunctivitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0004795 MONDO:0002776 True otitis externa external ear disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0004797 MONDO:0002121 True mononeuritis of lower limb mononeuritis simplex UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0004799 MONDO:0004785 True ulcerative blepharitis blepharitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0004800 MONDO:0004804 True chronic dacryoadenitis dacryoadenitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0004801 MONDO:0002467 True unilateral hypoactive labyrinth inner ear disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0004802 MONDO:0015691 True pulmonary eosinophilia hypereosinophilic syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0004803 MONDO:0015691 True disseminated eosinophilic collagen disease hypereosinophilic syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0004805 MONDO:0005570 True leukocyte disorder hematologic disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0004806 MONDO:0005749 True chronic eosinophilic pneumonia eosinophilic pneumonia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0004808 MONDO:0002657 True benign mammary dysplasia breast disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0004810 MONDO:0005756 True acute ethmoiditis ethmoid sinusitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0004811 MONDO:0002314 True simple chronic conjunctivitis chronic conjunctivitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0004812 MONDO:0004804 True acute dacryoadenitis dacryoadenitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0004813 MONDO:0002076 True tuberculous pneumothorax pneumothorax UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0004815 MONDO:0009693 True osteosclerotic plasma cell myeloma plasma cell myeloma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0004816 MONDO:0004111 True refractory plasma cell neoplasm refractory hematologic cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004789 MONDO:0006322 True cholangitis non-neoplastic bile duct disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0004795 MONDO:0002776 True otitis externa external ear disorder SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004795 MONDO:0021666 True otitis externa ear infection UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0004796 MONDO:0021108 True infectious meningitis meningitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0004796 MONDO:0024619 True infectious meningitis central nervous system infectious disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0004806 MONDO:0005749 True chronic eosinophilic pneumonia eosinophilic pneumonia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004815 MONDO:0009693 True osteosclerotic plasma cell myeloma plasma cell myeloma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004816 MONDO:0004111 True refractory plasma cell neoplasm refractory hematologic cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004816 MONDO:0004959 True refractory plasma cell neoplasm plasma cell neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004817 MONDO:0009693 True non-secretory plasma cell myeloma plasma cell myeloma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0004820 MONDO:0002546 True peripheral nerve schwannoma schwannoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0004821 MONDO:0004867 True nasopharyngeal disorder upper respiratory tract disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0004822 MONDO:0001358 True bronchiectasis bronchial disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0004824 MONDO:0002026 True neonatal candidiasis candidiasis UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0004826 MONDO:0004184 True urethral calculus urethral disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0004826 MONDO:0004828 True urethral calculus lower urinary tract calculus UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004817 MONDO:0009693 True non-secretory plasma cell myeloma plasma cell myeloma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004820 MONDO:0002546 True peripheral nerve schwannoma schwannoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004821 MONDO:0020592 True nasopharyngeal disorder disorder of pharynx UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0004822 MONDO:0005002 True bronchiectasis chronic obstructive pulmonary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS +MONDO:0004824 MONDO:0002026 True neonatal candidiasis candidiasis UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004827 MONDO:0001825 True esophagus squamous cell papilloma squamous papilloma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004827 MONDO:0021459 True esophagus squamous cell papilloma benign neoplasm of esophagus UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0004828 MONDO:0024647 True lower urinary tract calculus urolithiasis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004829 MONDO:0005092 True Krukenberg carcinoma signet ring cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004829 MONDO:0024879 True Krukenberg carcinoma metastatic carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004830 MONDO:0002081 True fasciitis musculoskeletal system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0004830 MONDO:0003900 True fasciitis connective tissue disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0004831 MONDO:0004830 True proliferative fasciitis fasciitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0004832 MONDO:0001572 True esophagus leiomyoma leiomyoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004832 MONDO:0021459 True esophagus leiomyoma benign neoplasm of esophagus UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004833 MONDO:0004830 True plantar fasciitis fasciitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0004834 MONDO:0004830 True ischemic fasciitis fasciitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0004835 MONDO:0004830 True necrotizing fasciitis fasciitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0004836 MONDO:0004187 True intravascular fasciitis nodular fasciitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0004837 MONDO:0016755 True neurofibroma of the esophagus neurofibroma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004834 MONDO:0004830 True ischemic fasciitis fasciitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004835 MONDO:0004830 True necrotizing fasciitis fasciitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004836 MONDO:0004187 True intravascular fasciitis nodular fasciitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004837 MONDO:0016755 True neurofibroma of the esophagus neurofibroma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004837 MONDO:0021355 True neurofibroma of the esophagus neoplasm of esophagus UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004838 MONDO:0005240 True orthostatic proteinuria kidney disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0004840 MONDO:0002473 True non-congenital cyst of kidney cystic kidney disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0004841 MONDO:0005240 True kidney hypertrophy kidney disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0004843 MONDO:0001584 True pathologic nystagmus ocular motility disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0004845 MONDO:0004842 True aphthous stomatitis stomatitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0004846 MONDO:0005917 True placental abruption placenta disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0004847 MONDO:0005129 True senile cataract cataract UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0004848 MONDO:0004842 True ulcerative stomatitis stomatitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0004849 MONDO:0005002 True pulmonary emphysema chronic obstructive pulmonary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0004851 MONDO:0002815 True toxic myocarditis acute myocarditis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0004853 MONDO:0016047 True gonococcal endophthalmia endophthalmitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0004855 MONDO:0004857 True tenosynovitis tendinitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0004855 MONDO:0006816 True tenosynovitis arthropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0004856 MONDO:0003799 True rosacea conjunctivitis conjunctivitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0004857 MONDO:0021167 True tendinitis myositis disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0004858 MONDO:0005281 True occlusion of gallbladder gallbladder disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0004859 MONDO:0005281 True hydrops of gallbladder gallbladder disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0004861 MONDO:0005328 True ophthalmia nodosa eye disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0004862 MONDO:0004860 True vitreous abscess vitreous disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0004862 MONDO:0004863 True vitreous abscess purulent endophthalmitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0004863 MONDO:0016047 True purulent endophthalmitis endophthalmitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0004864 MONDO:0004865 True acute allergic mucoid otitis media blue drum syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0004865 MONDO:0002738 True blue drum syndrome acute transudative otitis media UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0004866 MONDO:0003276 True eustachian tube disorder middle ear disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0004867 MONDO:0005087 True upper respiratory tract disorder respiratory system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0004868 MONDO:0002515 True biliary tract disorder hepatobiliary disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0004869 MONDO:0008638 True pelvic varices varicose disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0004871 MONDO:0004872 True perianal hematoma hemorrhoid UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0004872 MONDO:0004869 True hemorrhoid pelvic varices UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0004873 MONDO:0004872 True internal hemorrhoid hemorrhoid UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0004874 MONDO:0006816 True ganglion or cyst of synovium/tendon/bursa arthropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0004875 MONDO:0002155 True xanthogranulomatous cholecystitis cholecystitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0004876 MONDO:0005068 True myocardial stunning myocardial infarction UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0004878 MONDO:0004379 True female breast upper-outer quadrant cancer female breast carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0004879 MONDO:0004885 True senile atrophy of choroid choroidal sclerosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0004880 MONDO:0005020 True bowel dysfunction intestinal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0004881 MONDO:0021167 True myositis fibrosa myositis disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0004882 MONDO:0004885 True angioid streaks of choroid choroidal sclerosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0004882 MONDO:0011782 True angioid streaks of choroid angioid streaks UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0004883 MONDO:0004885 True hereditary choroidal atrophy choroidal sclerosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0004884 MONDO:0005328 True eye degenerative disorder eye disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0004885 MONDO:0001898 True choroidal sclerosis optic choroid disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0004885 MONDO:0004884 True choroidal sclerosis eye degenerative disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0004886 MONDO:0004885 True diffuse secondary choroid atrophy choroidal sclerosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0004888 MONDO:0004883 True partial circumpapillary choroid dystrophy hereditary choroidal atrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0004891 MONDO:0004892 True hyperopia refractive error UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0004892 MONDO:0005328 True refractive error eye disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0004893 MONDO:0003432 True hypertropia strabismus UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0004894 MONDO:0003432 True cyclotropia strabismus UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0004895 MONDO:0004896 True accommodative esotropia esotropia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0004896 MONDO:0003432 True esotropia strabismus UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0004897 MONDO:0003432 True hypotropia strabismus UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0004898 MONDO:0004883 True total circumpapillary dystrophy of choroid hereditary choroidal atrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0004899 MONDO:0003432 True monofixation syndrome strabismus UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0004900 MONDO:0002643 True peripheral vertigo vestibular disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0004901 MONDO:0005395 True lingual-facial-buccal dyskinesia movement disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0004902 MONDO:0003900 True interstitial keratitis connective tissue disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0004903 MONDO:0003085 True deep keratitis keratitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0004904 MONDO:0002175 True toxic maculopathy degeneration of macula and posterior pole UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0004907 MONDO:0019278 True alopecia hair anomaly UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004909 MONDO:0004184 True urethral gland abscess urethral disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0004910 MONDO:0003767 True mitral valve prolapse mitral valve disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0004911 MONDO:0004497 True cardiovascular syphilis tertiary syphilis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0004913 MONDO:0004896 True alternating esotropia esotropia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0004914 MONDO:0002254 True celiac artery stenosis from compression by median arcuate ligament of diaphragm syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0004917 MONDO:0005800 True internal hordeolum hordeolum UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0004918 MONDO:0004577 True central corneal ulcer corneal ulcer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0004919 MONDO:0004920 True infected hydrocele hydrocele UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0004920 MONDO:0003150 True hydrocele male reproductive system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0004922 MONDO:0000592 True developmental coordination disorder specific developmental disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0004923 MONDO:0001854 True chronic inflammation of lacrimal passage lacrimal apparatus disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0004924 MONDO:0004923 True chronic canaliculitis chronic inflammation of lacrimal passage UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0004925 MONDO:0004926 True chronic dacryocystitis dacryocystitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0004927 MONDO:0004923 True dacryocystocele chronic inflammation of lacrimal passage UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0004928 MONDO:0005833 True lymph node disorder lymphatic system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0004929 MONDO:0004751 True constant exophthalmos disease of orbital part of eye adnexa UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0004930 MONDO:0005041 True steroid-induced glaucoma glaucoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0004931 MONDO:0004930 True residual stage corticosteroid-induced glaucoma steroid-induced glaucoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0004932 MONDO:0004967 True null-cell leukemia acute lymphoblastic leukemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0004933 MONDO:0005453 True hypoplastic left heart syndrome congenital heart disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0004933 MONDO:0019820 True hypoplastic left heart syndrome univentricular cardiopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004934 MONDO:0003900 True periostitis connective tissue disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0004936 MONDO:0002654 True uterine inversion uterine disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0004937 MONDO:0003916 True hypervitaminosis D overnutrition UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0004938 MONDO:0002494 True substance dependence substance-related disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0004939 MONDO:0005303 True hallucinogen dependence drug dependence UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0004940 MONDO:0000922 True acute female pelvic peritonitis pelvic inflammatory disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0004941 MONDO:0015691 True eosinophilia-myalgia syndrome hypereosinophilic syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0004942 MONDO:0002889 True orbit lymphoma orbital cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0004943 MONDO:0002889 True orbit sarcoma orbital cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0004943 MONDO:0005089 True orbit sarcoma sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0004944 MONDO:0004497 True neurosyphilis tertiary syphilis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0004946 MONDO:0002908 True hypoglycemia glucose metabolism disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0004947 MONDO:0004967 True B-cell acute lymphoblastic leukemia acute lymphoblastic leukemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004841 MONDO:0005240 True kidney hypertrophy kidney disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004842 MONDO:0020579 True stomatitis mucositis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0004844 MONDO:0043243 True oral mucosa leukoplakia leukoplakia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0004846 MONDO:0005917 True placental abruption placenta disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004847 MONDO:0005129 True senile cataract cataract UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004848 MONDO:0004842 True ulcerative stomatitis stomatitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004849 MONDO:0005002 True pulmonary emphysema chronic obstructive pulmonary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004858 MONDO:0005281 True occlusion of gallbladder gallbladder disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004859 MONDO:0005281 True hydrops of gallbladder gallbladder disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004866 MONDO:0003276 True eustachian tube disorder middle ear disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004873 MONDO:0004872 True internal hemorrhoid hemorrhoid UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004875 MONDO:0002155 True xanthogranulomatous cholecystitis cholecystitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004881 MONDO:0021167 True myositis fibrosa myositis disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004893 MONDO:0003432 True hypertropia strabismus UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004896 MONDO:0003432 True esotropia strabismus UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004897 MONDO:0003432 True hypotropia strabismus UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004905 MONDO:0020598 True intestinal disaccharidase deficiency malabsorption syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0004910 MONDO:0003767 True mitral valve prolapse mitral valve disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004933 MONDO:0002254 True hypoplastic left heart syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004939 MONDO:0005303 True hallucinogen dependence drug dependence UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004940 MONDO:0000922 True acute female pelvic peritonitis pelvic inflammatory disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004942 MONDO:0002889 True orbit lymphoma orbital cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004943 MONDO:0002889 True orbit sarcoma orbital cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004943 MONDO:0005089 True orbit sarcoma sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004948 MONDO:0001014 True B-cell chronic lymphocytic leukemia chronic leukemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004948 MONDO:0004949 True B-cell chronic lymphocytic leukemia neoplasm of mature B-cells UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004948 MONDO:0017594 True B-cell chronic lymphocytic leukemia indolent B-cell non-Hodgkin lymphoma UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004949 MONDO:0004095 True neoplasm of mature B-cells B-cell neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0004950 MONDO:0001056 True gastric carcinoma gastric cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004949 MONDO:0004095 True neoplasm of mature B-cells B-cell neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004950 MONDO:0001056 True gastric carcinoma gastric cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004950 MONDO:0006181 True gastric carcinoma digestive system carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004952 MONDO:0005062 True Hodgkins lymphoma lymphoma UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0004952 MONDO:0017343 True Hodgkins lymphoma Epstein-Barr virus-associated malignant lymphoproliferative disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004953 MONDO:0005590 True invasive ductal breast carcinoma breast ductal adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004952 MONDO:0005062 True Hodgkins lymphoma lymphoma UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004953 MONDO:0005590 True invasive ductal breast carcinoma breast ductal adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004953 MONDO:0006256 True invasive ductal breast carcinoma invasive breast carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0004956 MONDO:0005159 True metastatic prostate carcinoma prostate carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004957 MONDO:0004970 True mucinous adenocarcinoma adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0004958 MONDO:0044710 True oral cavity squamous cell carcinoma lip and oral cavity squamous cell carcinoma UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0004957 MONDO:0004970 True mucinous adenocarcinoma adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004958 MONDO:0044710 True oral cavity squamous cell carcinoma lip and oral cavity squamous cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0004958 MONDO:0044925 True oral cavity squamous cell carcinoma oral cavity carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004959 MONDO:0004949 True plasma cell neoplasm neoplasm of mature B-cells UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004959 MONDO:0004949 True plasma cell neoplasm neoplasm of mature B-cells UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004963 MONDO:0004967 True T-cell acute lymphoblastic leukemia acute lymphoblastic leukemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0004964 MONDO:0005062 True peripheral T-cell lymphoma, not otherwise specified lymphoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0004964 MONDO:0005169 True peripheral T-cell lymphoma, not otherwise specified neoplasm of mature T-cells or NK-cells UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0004965 MONDO:0004970 True acinar cell carcinoma adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004966 MONDO:0004298 True gastritis stomach disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004966 MONDO:0004298 True gastritis stomach disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004967 MONDO:0003538 True acute lymphoblastic leukemia precursor lymphoblastic lymphoma/leukemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004967 MONDO:0005402 True acute lymphoblastic leukemia lymphoid leukemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0004967 MONDO:0010643 True acute lymphoblastic leukemia acute leukemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0004967 MONDO:0018908 True acute lymphoblastic leukemia non-Hodgkin lymphoma UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004970 MONDO:0004993 True adenocarcinoma carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004967 MONDO:0005402 True acute lymphoblastic leukemia lymphoid leukemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004967 MONDO:0010643 True acute lymphoblastic leukemia acute leukemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004970 MONDO:0004993 True adenocarcinoma carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004970 MONDO:0024276 True adenocarcinoma glandular cell neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0004972 MONDO:0005626 True adenoma epithelial neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0004973 MONDO:0006074 True adenosquamous lung carcinoma adenosquamous carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004974 MONDO:0021072 True adrenal gland pheochromocytoma sympathetic paraganglioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0004974 MONDO:0021237 True adrenal gland pheochromocytoma adrenal medulla neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004975 MONDO:0005574 True Alzheimer disease tauopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0004976 MONDO:0020128 True amyotrophic lateral sclerosis motor neuron disorder SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0004977 MONDO:0000430 True angioimmunoblastic T-cell lymphoma mature T-cell and NK-cell non-Hodgkin lymphoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0004979 MONDO:0001358 True asthma bronchial disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0004980 MONDO:0002406 True atopic eczema dermatitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0004980 MONDO:0005271 True atopic eczema allergic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0004982 MONDO:0002356 True pancreatitis pancreas disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0004983 MONDO:0005372 True spermatogenic failure male infertility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0004985 MONDO:0005371 True bipolar disorder mood disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0004986 MONDO:0001187 True urinary bladder carcinoma urinary bladder cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0004986 MONDO:0004993 True urinary bladder carcinoma carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004975 MONDO:0001627 True Alzheimer disease dementia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004976 MONDO:0020128 True amyotrophic lateral sclerosis motor neuron disorder SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004977 MONDO:0000430 True angioimmunoblastic T-cell lymphoma mature T-cell and NK-cell non-Hodgkin lymphoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004980 MONDO:0002406 True atopic eczema dermatitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004981 MONDO:0007263 True atrial fibrillation cardiac rhythm disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0004982 MONDO:0002356 True pancreatitis pancreas disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004985 MONDO:0005371 True bipolar disorder mood disorder SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004986 MONDO:0001187 True urinary bladder carcinoma urinary bladder cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004986 MONDO:0004993 True urinary bladder carcinoma carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004987 MONDO:0006026 True urinary bladder neoplasm urinary bladder disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0004987 MONDO:0021066 True urinary bladder neoplasm urinary system neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004988 MONDO:0004970 True breast adenocarcinoma adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0004988 MONDO:0004989 True breast adenocarcinoma breast carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004988 MONDO:0004970 True breast adenocarcinoma adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004988 MONDO:0004989 True breast adenocarcinoma breast carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004989 MONDO:0004993 True breast carcinoma carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004989 MONDO:0007254 True breast carcinoma breast cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0004991 MONDO:0005061 True minimally invasive lung adenocarcinoma lung adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0004992 MONDO:0005070 True cancer neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0004993 MONDO:0004992 True carcinoma cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004989 MONDO:0007254 True breast carcinoma breast cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004991 MONDO:0005061 True minimally invasive lung adenocarcinoma lung adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004992 MONDO:0005070 True cancer neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004993 MONDO:0004992 True carcinoma cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004993 MONDO:0005626 True carcinoma epithelial neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004994 MONDO:0005267 True cardiomyopathy heart disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0004996 MONDO:0004355 True childhood acute myeloid leukemia childhood leukemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004994 MONDO:0005267 True cardiomyopathy heart disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004996 MONDO:0004355 True childhood acute myeloid leukemia childhood leukemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004996 MONDO:0018874 True childhood acute myeloid leukemia acute myeloid leukemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004997 MONDO:0000631 True chondroblastoma bone benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004997 MONDO:0024470 True chondroblastoma benign chondrogenic neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005002 MONDO:0002267 True chronic obstructive pulmonary disease obstructive lung disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0005004 MONDO:0004970 True clear cell adenocarcinoma adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005001 MONDO:0004966 True chronic gastritis gastritis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0005003 MONDO:0004982 True chronic pancreatitis pancreatitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0005004 MONDO:0004970 True clear cell adenocarcinoma adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0005005 MONDO:0005004 True clear cell renal carcinoma clear cell adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0005005 MONDO:0005549 True clear cell renal carcinoma renal cell adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005006 MONDO:0002930 True clear cell sarcoma of kidney kidney sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0005007 MONDO:0002271 True colon mucinous adenocarcinoma colon adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0005007 MONDO:0004957 True colon mucinous adenocarcinoma mucinous adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0005008 MONDO:0004970 True colorectal adenocarcinoma adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0005008 MONDO:0024331 True colorectal adenocarcinoma colorectal carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0005010 MONDO:0000473 True coronary artery disorder arterial disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0005011 MONDO:0005265 True Crohn disease inflammatory bowel disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0005012 MONDO:0002898 True cutaneous melanoma skin cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0005012 MONDO:0005105 True cutaneous melanoma melanoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005006 MONDO:0002930 True clear cell sarcoma of kidney kidney sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0005007 MONDO:0002271 True colon mucinous adenocarcinoma colon adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0005007 MONDO:0004957 True colon mucinous adenocarcinoma mucinous adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0005008 MONDO:0004970 True colorectal adenocarcinoma adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0005008 MONDO:0024331 True colorectal adenocarcinoma colorectal carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0005009 MONDO:0005252 True congestive heart failure heart failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0005010 MONDO:0005267 True coronary artery disorder heart disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0005011 MONDO:0005265 True Crohn disease inflammatory bowel disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0005012 MONDO:0002898 True cutaneous melanoma skin cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0005012 MONDO:0005105 True cutaneous melanoma melanoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0005012 MONDO:0021583 True cutaneous melanoma melanocytic skin neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005013 MONDO:0021054 True dedifferentiated chondrosarcoma bone sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0005015 MONDO:0002908 True diabetes mellitus glucose metabolism disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0005017 MONDO:0005036 True diffuse gastric adenocarcinoma gastric adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005013 MONDO:0021054 True dedifferentiated chondrosarcoma bone sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0005015 MONDO:0001933 True diabetes mellitus endocrine pancreas disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0005015 MONDO:0002908 True diabetes mellitus glucose metabolism disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0005016 MONDO:0005300 True diabetic kidney disease chronic kidney disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0005017 MONDO:0005036 True diffuse gastric adenocarcinoma gastric adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0005017 MONDO:0021652 True diffuse gastric adenocarcinoma diffuse type adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005019 MONDO:0005100 True diffuse scleroderma systemic sclerosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0005020 MONDO:0004335 True intestinal disorder digestive system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0005021 MONDO:0000591 True dilated cardiomyopathy intrinsic cardiomyopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005020 MONDO:0004335 True intestinal disorder digestive system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0005023 MONDO:0003218 True ductal breast carcinoma in situ adenocarcinoma in situ UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0005023 MONDO:0004007 True ductal breast carcinoma in situ breast intraductal proliferative lesion UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0005023 MONDO:0004658 True ductal breast carcinoma in situ breast carcinoma in situ UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005023 MONDO:0004658 True ductal breast carcinoma in situ breast carcinoma in situ UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0005023 MONDO:0005590 True ductal breast carcinoma in situ breast ductal adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0005025 MONDO:0000470 True endocarditis endocardium disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0005026 MONDO:0004970 True endometrioid adenocarcinoma adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005027 MONDO:0005560 True epilepsy brain disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0005028 MONDO:0004970 True esophageal adenocarcinoma adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0005028 MONDO:0019086 True esophageal adenocarcinoma carcinoma of esophagus UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0005029 MONDO:0020076 True essential thrombocythemia myeloproliferative neoplasm UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005027 MONDO:0005560 True epilepsy brain disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0005028 MONDO:0004970 True esophageal adenocarcinoma adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0005028 MONDO:0019086 True esophageal adenocarcinoma carcinoma of esophagus UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0005029 MONDO:0020076 True essential thrombocythemia myeloproliferative neoplasm UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0005031 MONDO:0006209 True fibromatosis fibroblastic neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005032 MONDO:0004972 True follicular thyroid adenoma adenoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005032 MONDO:0004972 True follicular thyroid adenoma adenoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0005032 MONDO:0006107 True follicular thyroid adenoma benign thyroid gland neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005032 MONDO:0036976 True follicular thyroid adenoma benign epithelial neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005033 MONDO:0002366 True ganglioneuroma autonomic nervous system neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0005033 MONDO:0016729 True ganglioneuroma mixed neuronal-glial tumor UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005034 MONDO:0015447 True thyroid gland follicular carcinoma differentiated thyroid carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0005034 MONDO:0024622 True thyroid gland follicular carcinoma thyroid gland adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005034 MONDO:0015447 True thyroid gland follicular carcinoma differentiated thyroid carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0005034 MONDO:0024622 True thyroid gland follicular carcinoma thyroid gland adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0005035 MONDO:0006316 True ganglioneuroblastoma neuroblastic tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005036 MONDO:0004950 True gastric adenocarcinoma gastric carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0005036 MONDO:0004970 True gastric adenocarcinoma adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005036 MONDO:0004950 True gastric adenocarcinoma gastric carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0005036 MONDO:0004970 True gastric adenocarcinoma adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0005037 MONDO:0005036 True gastric intestinal type adenocarcinoma gastric adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005037 MONDO:0006254 True gastric intestinal type adenocarcinoma intestinal type adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005040 MONDO:0005070 True germ cell tumor neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0005041 MONDO:0005328 True glaucoma eye disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0005044 MONDO:0000473 True hypertensive disorder arterial disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0005045 MONDO:0000591 True hypertrophic cardiomyopathy intrinsic cardiomyopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0005047 MONDO:0005039 True infertility disorder reproductive system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0005048 MONDO:0019954 True pancreatic insulin-producing neuroendocrine tumor pancreatic neuroendocrine tumor UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0005040 MONDO:0005070 True germ cell tumor neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0005041 MONDO:0005328 True glaucoma eye disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0005048 MONDO:0019954 True pancreatic insulin-producing neuroendocrine tumor pancreatic neuroendocrine tumor UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005050 MONDO:0006306 True invasive ductal and lobular carcinoma mixed lobular and ductal breast carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005051 MONDO:0000552 True invasive lobular breast carcinoma breast lobular carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005051 MONDO:0000552 True invasive lobular breast carcinoma breast lobular carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0005051 MONDO:0006256 True invasive lobular breast carcinoma invasive breast carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005052 MONDO:0005020 True irritable bowel syndrome intestinal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0005053 MONDO:0005385 True ischemic disease vascular disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0005055 MONDO:0005108 True Kaposi's sarcoma viral infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0005055 MONDO:0015157 True Kaposi's sarcoma human herpesvirus 8-related tumor UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005056 MONDO:0005096 True keratinizing squamous cell carcinoma squamous cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005052 MONDO:0002254 True irritable bowel syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0005052 MONDO:0005020 True irritable bowel syndrome intestinal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0005056 MONDO:0005096 True keratinizing squamous cell carcinoma squamous cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0005057 MONDO:0002120 True large cell neuroendocrine carcinoma neuroendocrine carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0005057 MONDO:0005232 True large cell neuroendocrine carcinoma large cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0005058 MONDO:0002924 True leiomyosarcoma smooth muscle cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0005058 MONDO:0017345 True leiomyosarcoma Epstein-Barr virus-associated mesenchymal tumor UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005058 MONDO:0018078 True leiomyosarcoma soft tissue sarcoma UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0005058 MONDO:0002924 True leiomyosarcoma smooth muscle cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0005059 MONDO:0044881 True leukemia hematopoietic and lymphoid cell neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005060 MONDO:0018078 True liposarcoma soft tissue sarcoma UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005061 MONDO:0004970 True lung adenocarcinoma adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0005061 MONDO:0005233 True lung adenocarcinoma non-small cell lung carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005061 MONDO:0004970 True lung adenocarcinoma adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0005061 MONDO:0005233 True lung adenocarcinoma non-small cell lung carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0005062 MONDO:0005157 True lymphoma lymphoid neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005062 MONDO:0015757 True lymphoma lymphoid hemopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005063 MONDO:0004953 True medullary breast carcinoma invasive ductal breast carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0005067 MONDO:0010434 True monophasic synovial sarcoma synovial sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005065 MONDO:0006856 True mesothelioma mesothelial neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0005067 MONDO:0010434 True monophasic synovial sarcoma synovial sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0005068 MONDO:0024643 True myocardial infarction myocardial disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005072 MONDO:0006316 True neuroblastoma neuroblastic tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005074 MONDO:0002512 True papillary cystadenocarcinoma papillary adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0005074 MONDO:0005596 True papillary cystadenocarcinoma cystadenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005074 MONDO:0005596 True papillary cystadenocarcinoma cystadenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0005074 MONDO:0006349 True papillary cystadenocarcinoma papillary cystic neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005075 MONDO:0002512 True thyroid gland papillary carcinoma papillary adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0005075 MONDO:0015447 True thyroid gland papillary carcinoma differentiated thyroid carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0005075 MONDO:0024622 True thyroid gland papillary carcinoma thyroid gland adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0005076 MONDO:0002635 True periodontitis periodontal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005075 MONDO:0015447 True thyroid gland papillary carcinoma differentiated thyroid carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0005075 MONDO:0024622 True thyroid gland papillary carcinoma thyroid gland adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0005076 MONDO:0002635 True periodontitis periodontal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0005078 MONDO:0021045 True phyllodes tumor fibroepithelial neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005080 MONDO:0002405 True portal hypertension hepatic vascular disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0005082 MONDO:0004970 True prostate adenocarcinoma adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0005082 MONDO:0005159 True prostate adenocarcinoma prostate carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0005083 MONDO:0005046 True psoriasis immune system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005081 MONDO:0045048 True preeclampsia toxemia of pregnancy UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0005082 MONDO:0004970 True prostate adenocarcinoma adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0005082 MONDO:0005159 True prostate adenocarcinoma prostate carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0005083 MONDO:0002406 True psoriasis dermatitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0005085 MONDO:0006105 True pterygium benign conjunctival neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005086 MONDO:0005206 True renal cell carcinoma renal carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0005089 MONDO:0004992 True sarcoma cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0005090 MONDO:0005485 True schizophrenia psychotic disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0005091 MONDO:0020753 True severe acute respiratory syndrome Orthocoronavirinae infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0005092 MONDO:0004970 True signet ring cell carcinoma adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0005093 MONDO:0002051 True skin disorder integumentary system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0005094 MONDO:0002789 True hemangiopericytoma hemangiopericytic tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0005095 MONDO:0006816 True spondyloarthropathy arthropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005089 MONDO:0004992 True sarcoma cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0005092 MONDO:0004970 True signet ring cell carcinoma adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0005094 MONDO:0002789 True hemangiopericytoma hemangiopericytic tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0005095 MONDO:0006816 True spondyloarthropathy arthropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0005096 MONDO:0002532 True squamous cell carcinoma squamous cell neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0005096 MONDO:0004993 True squamous cell carcinoma carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0005097 MONDO:0005096 True squamous cell lung carcinoma squamous cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0005097 MONDO:0005138 True squamous cell lung carcinoma lung carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0005100 MONDO:0019340 True systemic sclerosis scleroderma UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0005101 MONDO:0005292 True ulcerative colitis colitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005096 MONDO:0004993 True squamous cell carcinoma carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0005097 MONDO:0005096 True squamous cell lung carcinoma squamous cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0005097 MONDO:0005138 True squamous cell lung carcinoma lung carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0005098 MONDO:0011057 True stroke disorder cerebrovascular disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0005100 MONDO:0019340 True systemic sclerosis scleroderma UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0005102 MONDO:0002397 True undifferentiated (embryonal) sarcoma liver sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005103 MONDO:0005060 True well-differentiated liposarcoma liposarcoma UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005104 MONDO:0005089 True aJCC grade 1 sarcoma sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005105 MONDO:0021143 True melanoma melanocytic neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005106 MONDO:0044983 True lipoma benign lipomatous neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005108 MONDO:0005550 True viral infectious disease infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005108 MONDO:0005550 True viral infectious disease infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0005110 MONDO:0004994 True idiopathic cardiomyopathy cardiomyopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005112 MONDO:0003308 True malignant pleural mesothelioma pleural mesothelioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0005112 MONDO:0006292 True malignant pleural mesothelioma malignant mesothelioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0005112 MONDO:0006294 True malignant pleural mesothelioma pleural cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0005113 MONDO:0005550 True bacterial infectious disease infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0005116 MONDO:0005020 True Whipple disease intestinal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0005119 MONDO:0000314 True anthrax infection primary bacterial infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0005124 MONDO:0000314 True leprosy primary bacterial infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0005125 MONDO:0005124 True borderline leprosy leprosy SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0005126 MONDO:0005124 True tuberculoid leprosy leprosy SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0005127 MONDO:0005124 True lepromatous leprosy leprosy SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0005129 MONDO:0001176 True cataract lens disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0005129 MONDO:0003847 True cataract hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0005130 MONDO:0000588 True celiac disease autoimmune disorder of gastrointestinal tract UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0005131 MONDO:0002974 True cervical carcinoma cervical cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0005135 MONDO:0005550 True parasitic infectious disease infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0005136 MONDO:0002428 True malaria protozoa infectious disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0005138 MONDO:0004993 True lung carcinoma carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0005138 MONDO:0008903 True lung carcinoma lung cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0005139 MONDO:0011122 True morbid obesity obesity disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0005140 MONDO:0018364 True ovarian carcinoma malignant epithelial tumor of ovary UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0005145 MONDO:0004976 True sporadic amyotrophic lateral sclerosis amyotrophic lateral sclerosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0005147 MONDO:0000569 True type 1 diabetes mellitus autoimmune disorder of endocrine system UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0005147 MONDO:0005015 True type 1 diabetes mellitus diabetes mellitus UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0005148 MONDO:0005015 True type 2 diabetes mellitus diabetes mellitus UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0005149 MONDO:0005044 True pulmonary hypertension hypertensive disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0005150 MONDO:0002175 True age-related macular degeneration degeneration of macula and posterior pole UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0005152 MONDO:0003381 True hypopituitarism pituitary gland disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0005153 MONDO:0004970 True cervical adenocarcinoma adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0005153 MONDO:0005131 True cervical adenocarcinoma cervical carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0005154 MONDO:0002515 True liver disorder hepatobiliary disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0005155 MONDO:0005154 True cirrhosis of liver liver disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0005156 MONDO:0002602 True encephalomyelitis central nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005112 MONDO:0006294 True malignant pleural mesothelioma pleural cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0005113 MONDO:0005550 True bacterial infectious disease infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0005116 MONDO:0005113 True Whipple disease bacterial infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0005124 MONDO:0020590 True leprosy mycobacterial infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0005125 MONDO:0005124 True borderline leprosy leprosy SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0005126 MONDO:0005124 True tuberculoid leprosy leprosy SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0005127 MONDO:0005124 True lepromatous leprosy leprosy SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0005129 MONDO:0001176 True cataract lens disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0005130 MONDO:0020598 True celiac disease malabsorption syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0005131 MONDO:0002974 True cervical carcinoma cervical cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0005135 MONDO:0005550 True parasitic infectious disease infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0005136 MONDO:0002428 True malaria protozoa infectious disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0005138 MONDO:0004993 True lung carcinoma carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0005138 MONDO:0008903 True lung carcinoma lung cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0005140 MONDO:0018364 True ovarian carcinoma malignant epithelial tumor of ovary UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0005146 MONDO:0005379 True post-traumatic stress disorder neurotic disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0005147 MONDO:0005015 True type 1 diabetes mellitus diabetes mellitus UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0005148 MONDO:0005015 True type 2 diabetes mellitus diabetes mellitus UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0005153 MONDO:0004970 True cervical adenocarcinoma adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0005153 MONDO:0005131 True cervical adenocarcinoma cervical carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0005154 MONDO:0002515 True liver disorder hepatobiliary disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0005155 MONDO:0005154 True cirrhosis of liver liver disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0005156 MONDO:0002602 True encephalomyelitis central nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0005156 MONDO:0021166 True encephalomyelitis inflammatory disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005157 MONDO:0044881 True lymphoid neoplasm hematopoietic and lymphoid cell neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005159 MONDO:0004993 True prostate carcinoma carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0005159 MONDO:0008315 True prostate carcinoma prostate cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0005160 MONDO:0005561 True aortic aneurysm aortic disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005159 MONDO:0004993 True prostate carcinoma carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0005159 MONDO:0008315 True prostate carcinoma prostate cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0005164 MONDO:0006209 True fibrosarcoma fibroblastic neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005164 MONDO:0018078 True fibrosarcoma soft tissue sarcoma UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005165 MONDO:0005070 True benign neoplasm neoplasm SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005165 MONDO:0005070 True benign neoplasm neoplasm SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0005166 MONDO:0000631 True osteoma bone benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005167 MONDO:0006209 True fibroma fibroblastic neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005169 MONDO:0024615 True neoplasm of mature T-cells or NK-cells T-cell and NK-cell neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005170 MONDO:0044881 True myeloid neoplasm hematopoietic and lymphoid cell neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005173 MONDO:0000611 True actinic keratosis pre-malignant neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0005177 MONDO:0002369 True serous cystadenoma cystadenoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005178 MONDO:0005578 True osteoarthritis arthritic joint disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0005181 MONDO:0009637 True progressive external ophthalmoplegia inborn mitochondrial myopathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005178 MONDO:0005578 True osteoarthritis arthritic joint disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0005183 MONDO:0002369 True ovarian cystadenoma cystadenoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0005184 MONDO:0006047 True pancreatic ductal adenocarcinoma pancreatic adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0005186 MONDO:0005303 True cocaine dependence drug dependence UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005184 MONDO:0006047 True pancreatic ductal adenocarcinoma pancreatic adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0005185 MONDO:0008383 True chronic childhood arthritis rheumatoid arthritis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0005186 MONDO:0005303 True cocaine dependence drug dependence UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0005188 MONDO:0005055 True iatrogenic Kaposi's sarcoma Kaposi's sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005190 MONDO:0002273 True macroglobulinemia plasma protein metabolism disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0005191 MONDO:0005105 True metastatic melanoma melanoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005192 MONDO:0002116 True exocrine pancreatic carcinoma malignant exocrine pancreas neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005192 MONDO:0002116 True exocrine pancreatic carcinoma malignant exocrine pancreas neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0005192 MONDO:0006181 True exocrine pancreatic carcinoma digestive system carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0005193 MONDO:0021259 True prostate intraepithelial neoplasia prostate neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005193 MONDO:0024474 True prostate intraepithelial neoplasia intraepithelial neoplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005197 MONDO:0003393 True thymus neoplasm thymus gland disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005198 MONDO:0002195 True vulvar intraepithelial neoplasia vulvar squamous neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005201 MONDO:0000591 True restrictive cardiomyopathy intrinsic cardiomyopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0005206 MONDO:0002367 True renal carcinoma kidney cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0005206 MONDO:0004993 True renal carcinoma carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005206 MONDO:0002367 True renal carcinoma kidney cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0005206 MONDO:0004993 True renal carcinoma carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0005207 MONDO:0002872 True choriocarcinoma trophoblastic neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0005208 MONDO:0002971 True amelanotic skin melanoma amelanotic melanoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0005208 MONDO:0005012 True amelanotic skin melanoma cutaneous melanoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0005210 MONDO:0005089 True uterine corpus sarcoma sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0005210 MONDO:0006003 True uterine corpus sarcoma uterine corpus cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0005211 MONDO:0002752 True ovarian serous adenocarcinoma ovarian adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005208 MONDO:0005012 True amelanotic skin melanoma cutaneous melanoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0005210 MONDO:0005089 True uterine corpus sarcoma sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0005211 MONDO:0002752 True ovarian serous adenocarcinoma ovarian adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0005211 MONDO:0005278 True ovarian serous adenocarcinoma serous adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0005211 MONDO:0024885 True ovarian serous adenocarcinoma malignant ovarian serous tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005212 MONDO:0018078 True rhabdomyosarcoma soft tissue sarcoma UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005214 MONDO:0001528 True vulva sarcoma vulva cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005214 MONDO:0001528 True vulva sarcoma vulva cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0005214 MONDO:0018078 True vulva sarcoma soft tissue sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005215 MONDO:0001528 True vulvar carcinoma vulva cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0005215 MONDO:0004993 True vulvar carcinoma carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005215 MONDO:0001528 True vulvar carcinoma vulva cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0005215 MONDO:0004993 True vulvar carcinoma carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0005216 MONDO:0002038 True hypopharyngeal carcinoma head and neck carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005216 MONDO:0005806 True hypopharyngeal carcinoma hypopharynx cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005216 MONDO:0021345 True hypopharyngeal carcinoma carcinoma of pharynx UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005219 MONDO:0002657 True breast fibrocystic disease breast disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0005220 MONDO:0005086 True collecting duct carcinoma renal cell carcinoma UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0005221 MONDO:0005519 True renal pelvis urothelial carcinoma renal pelvis carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005219 MONDO:0002657 True breast fibrocystic disease breast disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0005221 MONDO:0005519 True renal pelvis urothelial carcinoma renal pelvis carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0005221 MONDO:0020654 True renal pelvis urothelial carcinoma renal pelvis/ureter urothelial carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005223 MONDO:0015667 True acute myeloid leukemia with minimal differentiation acute myeloid leukemia by FAB classification UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005224 MONDO:0015667 True acute myeloblastic leukemia without maturation acute myeloid leukemia by FAB classification UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005229 MONDO:0005113 True bacterial infectious disease with sepsis bacterial infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0005232 MONDO:0004993 True large cell carcinoma carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0005233 MONDO:0005138 True non-small cell lung carcinoma lung carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0005235 MONDO:0009693 True smoldering plasma cell myeloma plasma cell myeloma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0005240 MONDO:0002118 True kidney disorder urinary system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0005244 MONDO:0003620 True peripheral neuropathy peripheral nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0005246 MONDO:0002614 True osteomyelitis bone inflammation disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0005258 MONDO:0000594 True autism spectrum disorder pervasive developmental disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0005259 MONDO:0005258 True Asperger syndrome autism spectrum disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0005260 MONDO:0005258 True autism autism spectrum disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0005264 MONDO:0005299 True transient ischemic attack brain ischemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0005265 MONDO:0005020 True inflammatory bowel disease intestinal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0005266 MONDO:0002311 True diabetic retinopathy retinal vascular disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0005267 MONDO:0004995 True heart disorder cardiovascular disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0005269 MONDO:0000473 True carotid artery disorder arterial disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0005269 MONDO:0011057 True carotid artery disorder cerebrovascular disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0005272 MONDO:0018881 True myelodysplastic syndrome with single lineage dysplasia myelodysplastic syndrome UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005275 MONDO:0000270 True lung disorder lower respiratory tract disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0005276 MONDO:0002220 True dental caries tooth hard tissue disease UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0005277 MONDO:0005560 True migraine disorder brain disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005223 MONDO:0015667 True acute myeloid leukemia with minimal differentiation acute myeloid leukemia by FAB classification UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0005224 MONDO:0015667 True acute myeloblastic leukemia without maturation acute myeloid leukemia by FAB classification UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0005227 MONDO:0005550 True abscess infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0005231 MONDO:0006011 True hepatitis C virus infection viral hepatitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0005232 MONDO:0004993 True large cell carcinoma carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0005233 MONDO:0005138 True non-small cell lung carcinoma lung carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0005235 MONDO:0009693 True smoldering plasma cell myeloma plasma cell myeloma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0005240 MONDO:0002118 True kidney disorder urinary system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0005242 MONDO:0005113 True empyema bacterial infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0005244 MONDO:0003620 True peripheral neuropathy peripheral nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0005252 MONDO:0005267 True heart failure heart disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0005258 MONDO:0000594 True autism spectrum disorder pervasive developmental disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0005259 MONDO:0005258 True Asperger syndrome autism spectrum disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0005260 MONDO:0005258 True autism autism spectrum disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0005264 MONDO:0005299 True transient ischemic attack brain ischemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0005265 MONDO:0005020 True inflammatory bowel disease intestinal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0005266 MONDO:0002311 True diabetic retinopathy retinal vascular disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0005267 MONDO:0004995 True heart disorder cardiovascular disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0005271 MONDO:0000605 True allergic disease hypersensitivity reaction disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0005272 MONDO:0018881 True myelodysplastic syndrome with single lineage dysplasia myelodysplastic syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0005277 MONDO:0043218 True migraine disorder neurovascular disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005278 MONDO:0004970 True serous adenocarcinoma adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0005279 MONDO:0000473 True pulmonary embolism arterial disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0005280 MONDO:0003105 True prostatitis prostate disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0005282 MONDO:0004670 True cutaneous lupus erythematosus lupus erythematosus UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0005283 MONDO:0005071 True retinal disorder nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0005283 MONDO:0005328 True retinal disorder eye disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005280 MONDO:0003105 True prostatitis prostate disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0005281 MONDO:0002515 True gallbladder disorder hepatobiliary disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0005282 MONDO:0004670 True cutaneous lupus erythematosus lupus erythematosus UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0005283 MONDO:0005328 True retinal disorder eye disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0005286 MONDO:0005586 True palatal neoplasm head and neck neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005286 MONDO:0021245 True palatal neoplasm oral cavity neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005289 MONDO:0001735 True paranasal sinus neoplasm paranasal sinus disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0005291 MONDO:0006693 True brain aneurysm cerebral arterial disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0005292 MONDO:0005265 True colitis inflammatory bowel disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0005294 MONDO:0005385 True peripheral vascular disease vascular disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0005295 MONDO:0002277 True intermittent vascular claudication arteriosclerosis disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0005296 MONDO:0003406 True sleep apnea syndrome sleep-wake disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0005297 MONDO:0004184 True urethritis urethral disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0005298 MONDO:0000837 True osteoporosis bone resorption disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0005299 MONDO:0005053 True brain ischemia ischemic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0005299 MONDO:0011057 True brain ischemia cerebrovascular disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0005300 MONDO:0005240 True chronic kidney disease kidney disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0005301 MONDO:0000568 True multiple sclerosis autoimmune disorder of central nervous system UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0005301 MONDO:0002562 True multiple sclerosis demyelinating disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0005303 MONDO:0004938 True drug dependence substance dependence UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0005304 MONDO:0004868 True biliary tract neoplasm biliary tract disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0005308 MONDO:0003847 True ciliopathy hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0005311 MONDO:0002277 True atherosclerosis arteriosclerosis disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0005314 MONDO:0005301 True relapsing-remitting multiple sclerosis multiple sclerosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0005321 MONDO:0000766 True Fuchs' endothelial dystrophy corneal endothelial dystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0005321 MONDO:0020214 True Fuchs' endothelial dystrophy posterior corneal dystrophy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005333 MONDO:0003240 True hyperthyroxinemia thyroid gland disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005289 MONDO:0001735 True paranasal sinus neoplasm paranasal sinus disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0005294 MONDO:0005385 True peripheral vascular disease vascular disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0005296 MONDO:0003406 True sleep apnea syndrome sleep-wake disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0005296 MONDO:0005087 True sleep apnea syndrome respiratory system disorder UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0005297 MONDO:0004184 True urethritis urethral disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0005298 MONDO:0800486 True osteoporosis metabolic bone disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0005299 MONDO:0011057 True brain ischemia cerebrovascular disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0005300 MONDO:0005240 True chronic kidney disease kidney disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0005302 MONDO:0007743 True attention deficit hyperactivity disorder, inattentive type attention deficit-hyperactivity disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0005303 MONDO:0004938 True drug dependence substance dependence UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0005306 MONDO:0005095 True ankylosing spondylitis spondyloarthropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0005311 MONDO:0002277 True atherosclerosis arteriosclerosis disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0005313 MONDO:0005020 True necrotizing enterocolitis intestinal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0005313 MONDO:0009172 True necrotizing enterocolitis enterocolitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0005314 MONDO:0005301 True relapsing-remitting multiple sclerosis multiple sclerosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0005315 MONDO:0021178 True bone fracture injury UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0005316 MONDO:0023557 True bacterial vaginosis infective vaginitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0005324 MONDO:0011786 True seasonal allergic rhinitis allergic rhinitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005335 MONDO:0021118 True colorectal neoplasm intestinal neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005338 MONDO:0005041 True open-angle glaucoma glaucoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005338 MONDO:0005041 True open-angle glaucoma glaucoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0005341 MONDO:0020804 True skin basal cell carcinoma basal cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005342 MONDO:0002462 True IgA glomerulonephritis glomerulonephritis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0005349 MONDO:0002467 True otosclerosis inner ear disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0005350 MONDO:0005160 True abdominal aortic aneurysm aortic aneurysm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0005351 MONDO:0005451 True anorexia nervosa eating disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0005352 MONDO:0000592 True conduct disorder specific developmental disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0005355 MONDO:0006715 True coronary restenosis coronary stenosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0005356 MONDO:0005010 True coronary vasospasm coronary artery disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0005357 MONDO:0005429 True Creutzfeldt Jacob disease prion disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0005358 MONDO:0005502 True Dengue hemorrhagic fever dengue disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0005361 MONDO:0001409 True eosinophilic esophagitis esophagitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0005362 MONDO:0002134 True erectile dysfunction physiological sexual disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0005367 MONDO:0005530 True heroin dependence opiate dependence UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005342 MONDO:0002462 True IgA glomerulonephritis glomerulonephritis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0005344 MONDO:0006011 True hepatitis B virus infection viral hepatitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0005345 MONDO:0005039 True hypospadias reproductive system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0005348 MONDO:0006603 True keloid reactive cutaneous fibrous lesion UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0005351 MONDO:0005451 True anorexia nervosa eating disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0005357 MONDO:0005429 True Creutzfeldt Jacob disease prion disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0005358 MONDO:0005502 True Dengue hemorrhagic fever dengue disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0005361 MONDO:0001409 True eosinophilic esophagitis esophagitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0005364 MONDO:0005397 True Graves disease goiter UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0005365 MONDO:0021945 True hearing loss disorder hearing disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005369 MONDO:0019496 True carcinoid tumor neuroendocrine neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005372 MONDO:0003150 True male infertility male reproductive system disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0005374 MONDO:0002334 True bone marrow neoplasm hematopoietic and lymphoid system neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0005374 MONDO:0003225 True bone marrow neoplasm bone marrow disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005372 MONDO:0003150 True male infertility male reproductive system disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0005374 MONDO:0002334 True bone marrow neoplasm hematopoietic and lymphoid system neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0005374 MONDO:0003225 True bone marrow neoplasm bone marrow disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0005375 MONDO:0004821 True nasopharyngeal neoplasm nasopharyngeal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005375 MONDO:0005586 True nasopharyngeal neoplasm head and neck neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005375 MONDO:0021246 True nasopharyngeal neoplasm pharynx neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005376 MONDO:0002462 True membranous glomerulonephritis glomerulonephritis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0005377 MONDO:0002331 True nephrotic syndrome nephrosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0005379 MONDO:0005618 True neurotic disorder anxiety disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0005380 MONDO:0005381 True osteonecrosis bone disorder UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0005382 MONDO:0002185 True bone Paget disease hyperostosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0005383 MONDO:0005618 True panic disorder anxiety disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0005384 MONDO:0005027 True focal epilepsy epilepsy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0005385 MONDO:0004995 True vascular disorder cardiovascular disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0005386 MONDO:0000473 True peripheral arterial disease arterial disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0005387 MONDO:0005558 True primary ovarian failure ovarian disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0005391 MONDO:0005071 True restless legs syndrome nervous system disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0005392 MONDO:0000836 True scoliosis disease of bone structure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0005394 MONDO:0011057 True brain infarction cerebrovascular disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0005395 MONDO:0005071 True movement disorder nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0005396 MONDO:0005160 True thoracic aortic aneurysm aortic aneurysm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0005397 MONDO:0003240 True goiter thyroid gland disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005376 MONDO:0002462 True membranous glomerulonephritis glomerulonephritis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0005377 MONDO:0002254 True nephrotic syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0005379 MONDO:0005618 True neurotic disorder anxiety disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0005382 MONDO:0800486 True bone Paget disease metabolic bone disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0005383 MONDO:0005618 True panic disorder anxiety disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0005384 MONDO:0005027 True focal epilepsy epilepsy UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0005385 MONDO:0004995 True vascular disorder cardiovascular disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0005386 MONDO:0005294 True peripheral arterial disease peripheral vascular disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0005387 MONDO:0005558 True primary ovarian failure ovarian disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0005391 MONDO:0005071 True restless legs syndrome nervous system disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0005393 MONDO:0005066 True gout metabolic disease UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0005395 MONDO:0005071 True movement disorder nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0005397 MONDO:0003240 True goiter thyroid gland disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0005399 MONDO:0005385 True venous thromboembolism vascular disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005401 MONDO:0005335 True colonic neoplasm colorectal neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005402 MONDO:0005059 True lymphoid leukemia leukemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005402 MONDO:0005059 True lymphoid leukemia leukemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0005402 MONDO:0005157 True lymphoid leukemia lymphoid neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005404 MONDO:0002254 True myalgic encephalomeyelitis/chronic fatigue syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0005405 MONDO:0004979 True childhood onset asthma asthma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0005406 MONDO:0005015 True gestational diabetes diabetes mellitus UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0005411 MONDO:0002516 True gallbladder cancer digestive system cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005404 MONDO:0002254 True myalgic encephalomeyelitis/chronic fatigue syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0005404 MONDO:0021094 True myalgic encephalomeyelitis/chronic fatigue syndrome immunodeficiency disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0005406 MONDO:0005015 True gestational diabetes diabetes mellitus UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0005411 MONDO:0002516 True gallbladder cancer digestive system cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0005411 MONDO:0021253 True gallbladder cancer gallbladder neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005412 MONDO:0004247 True duodenal ulcer peptic ulcer disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0005420 MONDO:0003240 True hypothyroidism thyroid gland disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0005424 MONDO:0019297 True elephantiasis lymphedema UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0005425 MONDO:0005424 True podoconiosis elephantiasis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0005429 MONDO:0005560 True prion disease brain disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005412 MONDO:0004247 True duodenal ulcer peptic ulcer disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0005420 MONDO:0003240 True hypothyroidism thyroid gland disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0005429 MONDO:0005560 True prion disease brain disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0005429 MONDO:0024619 True prion disease central nervous system infectious disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005438 MONDO:0001082 True metastatic malignant neoplasm in the lymph nodes lymph node cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005439 MONDO:0001336 True familial hypercholesterolemia familial hyperlipidemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0005441 MONDO:0003276 True otitis media middle ear disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0005445 MONDO:0011989 True visceral leishmaniasis leishmaniasis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0005446 MONDO:0011989 True cutaneous leishmaniasis leishmaniasis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0005447 MONDO:0005836 True testicular cancer male reproductive organ cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005439 MONDO:0037748 True familial hypercholesterolemia hyperlipoproteinemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0005441 MONDO:0003276 True otitis media middle ear disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0005445 MONDO:0011989 True visceral leishmaniasis leishmaniasis SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0005446 MONDO:0011989 True cutaneous leishmaniasis leishmaniasis SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0005447 MONDO:0005836 True testicular cancer male reproductive organ cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0005447 MONDO:0021348 True testicular cancer neoplasm of testis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005451 MONDO:0002025 True eating disorder psychiatric disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0005452 MONDO:0005451 True bulimia nervosa eating disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0005453 MONDO:0005267 True congenital heart disease heart disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005451 MONDO:0002025 True eating disorder psychiatric disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0005451 MONDO:0005137 True eating disorder nutritional disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0005452 MONDO:0005451 True bulimia nervosa eating disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0005453 MONDO:0005267 True congenital heart disease heart disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0005453 MONDO:0024239 True congenital heart disease congenital anomaly of cardiovascular system UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005454 MONDO:0019496 True lung neuroendocrine neoplasm neuroendocrine neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0005454 MONDO:0021117 True lung neuroendocrine neoplasm lung neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005459 MONDO:0000940 True human African trypanosomiasis trypanosomiasis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0005460 MONDO:0005812 True swine influenza influenza UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0005461 MONDO:0002447 True endometrium adenocarcinoma endometrial carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0005461 MONDO:0004970 True endometrium adenocarcinoma adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005460 MONDO:0005812 True swine influenza influenza UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0005461 MONDO:0002447 True endometrium adenocarcinoma endometrial carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0005461 MONDO:0004970 True endometrium adenocarcinoma adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0005462 MONDO:0005564 True primitive neuroectodermal tumor embryonal neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0005462 MONDO:0021193 True primitive neuroectodermal tumor neuroepithelial neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005475 MONDO:0005277 True migraine with aura migraine disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0005480 MONDO:0002406 True contact dermatitis dermatitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005464 MONDO:0008375 True rhegmatogenous retinal detachment retinal detachment UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0005473 MONDO:0006816 True temporomandibular joint disorder arthropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0005475 MONDO:0005277 True migraine with aura migraine disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0005477 MONDO:0007263 True ventricular tachycardia cardiac rhythm disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0005479 MONDO:0007263 True atrial tachycardia cardiac rhythm disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0005480 MONDO:0002406 True contact dermatitis dermatitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0005483 MONDO:0004907 True chemotherapy-induced alopecia alopecia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005484 MONDO:0005335 True colorectal adenoma colorectal neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005484 MONDO:0006180 True colorectal adenoma digestive system adenoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0005485 MONDO:0002039 True psychotic disorder cognitive disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0005486 MONDO:0006999 True tooth agenesis tooth disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0005487 MONDO:0005485 True schizoaffective disorder psychotic disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0005489 MONDO:0001697 True dyslexia reading disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0005495 MONDO:0005151 True adrenal gland disorder endocrine system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0005496 MONDO:0003059 True bile duct carcinoma bile duct cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0005497 MONDO:0005381 True bone development disease bone disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0005498 MONDO:0000314 True botulism primary bacterial infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0005499 MONDO:0001657 True brain glioma brain cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0005500 MONDO:0015286 True congenital disorder of glycosylation type I congenital disorder of glycosylation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0005501 MONDO:0015286 True congenital disorder of glycosylation type II congenital disorder of glycosylation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0005504 MONDO:0000314 True diphtheria primary bacterial infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0005505 MONDO:0016729 True dysembryoplastic neuroepithelial tumor mixed neuronal-glial tumor UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0005492 MONDO:0002406 True urticaria dermatitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0005505 MONDO:0016729 True dysembryoplastic neuroepithelial tumor mixed neuronal-glial tumor UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005505 MONDO:0021211 True dysembryoplastic neuroepithelial tumor brain neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005506 MONDO:0002090 True eccrine sweat gland cancer eccrine sweat gland neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0005506 MONDO:0002206 True eccrine sweat gland cancer sweat gland cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0005507 MONDO:0005515 True gingival cancer oral cavity cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005506 MONDO:0002206 True eccrine sweat gland cancer sweat gland cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0005507 MONDO:0005515 True gingival cancer oral cavity cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0005507 MONDO:0005627 True gingival cancer head and neck cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0005507 MONDO:0021086 True gingival cancer gingival neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005508 MONDO:0002181 True hereditary multiple osteochondromas exostosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0005508 MONDO:0019060 True hereditary multiple osteochondromas bone neoplasm UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005509 MONDO:0005070 True histiocytoma neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0005510 MONDO:0003330 True hydronephrosis urinary tract obstruction UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0005511 MONDO:0015974 True janus kinase-3 deficiency severe combined immunodeficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0005512 MONDO:0002087 True malignant peritoneal mesothelioma peritoneum cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005508 MONDO:0002181 True hereditary multiple osteochondromas exostosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0005508 MONDO:0015356 True hereditary multiple osteochondromas hereditary neoplastic syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0005508 MONDO:0023603 True hereditary multiple osteochondromas hereditary disorder of connective tissue UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0005509 MONDO:0005070 True histiocytoma neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0005510 MONDO:0003330 True hydronephrosis urinary tract obstruction UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0005512 MONDO:0002087 True malignant peritoneal mesothelioma peritoneum cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0005512 MONDO:0006292 True malignant peritoneal mesothelioma malignant mesothelioma UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0005512 MONDO:0006362 True malignant peritoneal mesothelioma peritoneal mesothelioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005514 MONDO:0016764 True nanophthalmia isolated anophthalmia-microphthalmia syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005514 MONDO:0021129 True nanophthalmia microphthalmia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0005515 MONDO:0002516 True oral cavity cancer digestive system cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0005515 MONDO:0005627 True oral cavity cancer head and neck cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0005515 MONDO:0021245 True oral cavity cancer oral cavity neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005516 MONDO:0005497 True osteochondrodysplasia bone development disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0005517 MONDO:0002516 True pharynx cancer digestive system cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0005517 MONDO:0020592 True pharynx cancer disorder of pharynx UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005517 MONDO:0021246 True pharynx cancer pharynx neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005517 MONDO:0021310 True pharynx cancer malignant tumor of neck UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005518 MONDO:0024665 True pseudohermaphroditism indeterminate sex and/or pseudohermaphroditism SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005519 MONDO:0005206 True renal pelvis carcinoma renal carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0005519 MONDO:0044919 True renal pelvis carcinoma malignant renal pelvis neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005520 MONDO:0000833 True rickets bone remodeling disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0005522 MONDO:0000956 True small intestine carcinoma small intestine cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005522 MONDO:0000956 True small intestine carcinoma small intestine cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0005522 MONDO:0006181 True small intestine carcinoma digestive system carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0005523 MONDO:0002525 True steroid inherited metabolic disorder inherited lipid metabolism disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0005524 MONDO:0002206 True sweat gland carcinoma sweat gland cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005524 MONDO:0002206 True sweat gland carcinoma sweat gland cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0005524 MONDO:0004970 True sweat gland carcinoma adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0005524 MONDO:0006973 True sweat gland carcinoma skin appendage carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005526 MONDO:0000314 True tetanus primary bacterial infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0005526 MONDO:0020010 True tetanus infectious disorder of the nervous system UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005527 MONDO:0005071 True toxic encephalopathy nervous system disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0005528 MONDO:0019052 True inborn vitamin metabolic disorder inborn errors of metabolism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0005530 MONDO:0005303 True opiate dependence drug dependence UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0005531 MONDO:0005530 True morphine dependence opiate dependence UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0005532 MONDO:0005011 True Crohn's colitis Crohn disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0005541 MONDO:0000836 True spondylolysis disease of bone structure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0005543 MONDO:0016264 True autoimmune hepatitis type 1 autoimmune hepatitis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005546 MONDO:0002254 True fibromyalgia syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0005554 MONDO:0003900 True rheumatic disorder connective tissue disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0005555 MONDO:0000926 True cycloplegia eye accommodation disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0005556 MONDO:0002462 True lupus nephritis glomerulonephritis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0005558 MONDO:0002259 True ovarian disorder gonadal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0005558 MONDO:0002263 True ovarian disorder female reproductive system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0005559 MONDO:0002602 True neurodegenerative disease central nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0005560 MONDO:0002602 True brain disorder central nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0005561 MONDO:0000473 True aortic disorder arterial disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0005564 MONDO:0005070 True embryonal neoplasm neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0005565 MONDO:0004992 True blastoma cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0005565 MONDO:0005564 True blastoma embryonal neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0005566 MONDO:0005567 True neonatal abstinence syndrome substance withdrawal syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0005567 MONDO:0002494 True substance withdrawal syndrome substance-related disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0005568 MONDO:0005385 True cholesterol embolism vascular disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0005571 MONDO:0003225 True polycythemia bone marrow disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0005574 MONDO:0005559 True tauopathy neurodegenerative disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005527 MONDO:0005071 True toxic encephalopathy nervous system disorder SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0005532 MONDO:0005011 True Crohn's colitis Crohn disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0005538 MONDO:0002519 True proctitis anus disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0005542 MONDO:0002254 True acute coronary syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0005545 MONDO:0024313 True staphylococcus aureus infection staphylococcal infection UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0005546 MONDO:0002254 True fibromyalgia syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0005552 MONDO:0005328 True ocular vascular disorder eye disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0005552 MONDO:0005385 True ocular vascular disorder vascular disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0005556 MONDO:0002462 True lupus nephritis glomerulonephritis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0005558 MONDO:0002263 True ovarian disorder female reproductive system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0005559 MONDO:0002602 True neurodegenerative disease central nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0005560 MONDO:0002602 True brain disorder central nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0005561 MONDO:0000473 True aortic disorder arterial disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0005564 MONDO:0005070 True embryonal neoplasm neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0005565 MONDO:0005564 True blastoma embryonal neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0005566 MONDO:0005567 True neonatal abstinence syndrome substance withdrawal syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0005567 MONDO:0002254 True substance withdrawal syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0005575 MONDO:0005335 True colorectal cancer colorectal neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005575 MONDO:0005814 True colorectal cancer intestinal cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0005576 MONDO:0002459 True cryoglobulinemia type IV hypersensitivity disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0005578 MONDO:0002614 True arthritic joint disease bone inflammation disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0005580 MONDO:0005096 True esophageal squamous cell carcinoma squamous cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0005580 MONDO:0019086 True esophageal squamous cell carcinoma carcinoma of esophagus UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005575 MONDO:0005814 True colorectal cancer intestinal cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0005578 MONDO:0006816 True arthritic joint disease arthropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0005580 MONDO:0005096 True esophageal squamous cell carcinoma squamous cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0005580 MONDO:0019086 True esophageal squamous cell carcinoma carcinoma of esophagus UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0005582 MONDO:0005451 True binge eating disorder eating disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005586 MONDO:0005070 True head and neck neoplasm neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005590 MONDO:0004988 True breast ductal adenocarcinoma breast adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0005595 MONDO:0002358 True laryngeal squamous cell carcinoma laryngeal carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005593 MONDO:0005076 True chronic periodontitis periodontitis UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0005595 MONDO:0002358 True laryngeal squamous cell carcinoma laryngeal carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0005595 MONDO:0010150 True laryngeal squamous cell carcinoma head and neck squamous cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0005596 MONDO:0004970 True cystadenocarcinoma adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0005596 MONDO:0021077 True cystadenocarcinoma cystic neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005599 MONDO:0006292 True malignant epithelioid mesothelioma malignant mesothelioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0005601 MONDO:0002752 True ovarian mucinous adenocarcinoma ovarian adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0005601 MONDO:0004957 True ovarian mucinous adenocarcinoma mucinous adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005599 MONDO:0006292 True malignant epithelioid mesothelioma malignant mesothelioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0005601 MONDO:0002752 True ovarian mucinous adenocarcinoma ovarian adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0005601 MONDO:0004957 True ovarian mucinous adenocarcinoma mucinous adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0005601 MONDO:0024282 True ovarian mucinous adenocarcinoma mucinous ovarian cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005602 MONDO:0006233 True ovarian teratoma gonadal teratoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005602 MONDO:0011366 True ovarian teratoma ovarian germ cell tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0005605 MONDO:0002363 True transitional cell papilloma papilloma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0005606 MONDO:0004970 True tubular adenocarcinoma adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0005611 MONDO:0004986 True bladder transitional cell carcinoma urinary bladder carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005602 MONDO:0011366 True ovarian teratoma ovarian germ cell tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0005605 MONDO:0002363 True transitional cell papilloma papilloma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0005606 MONDO:0004970 True tubular adenocarcinoma adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0005607 MONDO:0003781 True chronic bronchitis bronchitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0005607 MONDO:0005002 True chronic bronchitis chronic obstructive pulmonary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0005609 MONDO:0005608 True herpes zoster varicella zoster infection UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0005611 MONDO:0004986 True bladder transitional cell carcinoma urinary bladder carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0005611 MONDO:0040679 True bladder transitional cell carcinoma urothelial carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005613 MONDO:0004970 True mesonephric adenocarcinoma adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005614 MONDO:0006074 True pancreatic adenosquamous carcinoma adenosquamous carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0005615 MONDO:0004959 True plasmacytoma plasma cell neoplasm UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005615 MONDO:0004959 True plasmacytoma plasma cell neoplasm UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0005616 MONDO:0003036 True pulmonary mucoepidermoid carcinoma mucoepidermoid carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0005617 MONDO:0004993 True undifferentiated carcinoma carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005619 MONDO:0000827 True typhoid fever salmonellosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0005620 MONDO:0011057 True cerebral amyloid angiopathy cerebrovascular disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0005620 MONDO:0018634 True cerebral amyloid angiopathy hereditary amyloidosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005625 MONDO:0005136 True cerebral malaria malaria UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005620 MONDO:0011057 True cerebral amyloid angiopathy cerebrovascular disorder SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0005625 MONDO:0005136 True cerebral malaria malaria UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0005626 MONDO:0005070 True epithelial neoplasm neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005627 MONDO:0004992 True head and neck cancer cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005627 MONDO:0004992 True head and neck cancer cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0005627 MONDO:0005586 True head and neck cancer head and neck neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005628 MONDO:0004989 True male breast carcinoma breast carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0005629 MONDO:0023865 True Acanthamoeba keratitis corneal infection UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005631 MONDO:0000315 True actinomycosis commensal bacterial infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0005632 MONDO:0005275 True acute chest syndrome lung disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005629 MONDO:0002428 True Acanthamoeba keratitis protozoa infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0005629 MONDO:0023865 True Acanthamoeba keratitis corneal infection UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0005632 MONDO:0002254 True acute chest syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0005634 MONDO:0001214 True acute hemorrhagic conjunctivitis acute conjunctivitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0005635 MONDO:0000624 True adenomyoma benign female reproductive system neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0005636 MONDO:0001416 True adenosarcoma female reproductive organ cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0005636 MONDO:0005853 True adenosarcoma malignant mixed neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0005640 MONDO:0005560 True akinetic mutism brain disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0005642 MONDO:0002314 True atopic conjunctivitis chronic conjunctivitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0005644 MONDO:0002428 True amebiasis protozoa infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0005648 MONDO:0003803 True aortic valve insufficiency aortic valve disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0005649 MONDO:0002031 True appendicitis cecal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0005657 MONDO:0002312 True aspergillosis opportunistic mycosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0005659 MONDO:0003014 True atrophic rhinitis rhinitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0005661 MONDO:0002428 True babesiosis protozoa infectious disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0005662 MONDO:0002428 True balantidiasis protozoa infectious disease UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0005663 MONDO:0002254 True Barre-Lieou syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0005664 MONDO:0000314 True bartonellosis primary bacterial infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0005665 MONDO:0001835 True Bell's palsy facial paralysis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0005665 MONDO:0002098 True Bell's palsy facial nerve disorder SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005636 MONDO:0005853 True adenosarcoma malignant mixed neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0005647 MONDO:0005161 True anogenital human papillomavirus infection human papilloma virus infection UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0005648 MONDO:0003803 True aortic valve insufficiency aortic valve disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0005661 MONDO:0002428 True babesiosis protozoa infectious disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0005663 MONDO:0002254 True Barre-Lieou syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0005665 MONDO:0002098 True Bell's palsy facial nerve disorder SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0005665 MONDO:0002782 True Bell's palsy cranial nerve palsy UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0005667 MONDO:0005281 True biliary dyskinesia gallbladder disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0005668 MONDO:0017853 True bird fancier's lung hypersensitivity pneumonitis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0005670 MONDO:0005136 True blackwater fever malaria UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0005672 MONDO:0000308 True blastomycosis primary systemic mycosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0005674 MONDO:0021054 True bone giant cell tumor bone sarcoma UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0005680 MONDO:0019362 True Brill-Zinsser disease epidemic louse-borne typhus UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0005682 MONDO:0005249 True bronchopneumonia pneumonia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0005683 MONDO:0000314 True brucellosis primary bacterial infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0005684 MONDO:0000341 True bulbar polio paralytic poliomyelitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0005688 MONDO:0002269 True campylobacteriosis gastroenteritis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0005689 MONDO:0005303 True cannabis dependence drug dependence UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0005690 MONDO:0015926 True Caplan syndrome pneumoconiosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0005692 MONDO:0005664 True cat-scratch disease bartonellosis UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0005693 MONDO:0002254 True cauda equina syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0005693 MONDO:0003620 True cauda equina syndrome peripheral nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0005694 MONDO:0002031 True cecal neoplasm cecal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005668 MONDO:0017853 True bird fancier's lung hypersensitivity pneumonitis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0005670 MONDO:0005136 True blackwater fever malaria UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0005673 MONDO:0020598 True blind loop syndrome malabsorption syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0005682 MONDO:0005249 True bronchopneumonia pneumonia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0005689 MONDO:0005303 True cannabis dependence drug dependence UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0005692 MONDO:0005664 True cat-scratch disease bartonellosis UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0005693 MONDO:0002254 True cauda equina syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0005693 MONDO:0003620 True cauda equina syndrome peripheral nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0005694 MONDO:0005401 True cecal neoplasm colonic neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005696 MONDO:0000368 True central nervous system tuberculosis extrapulmonary tuberculosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0005698 MONDO:0002256 True cervical incompetence cervix disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0005701 MONDO:0000315 True chlamydia trachomatis infectious disease commensal bacterial infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0005705 MONDO:0004664 True clonorchiasis helminthiasis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0005706 MONDO:0000308 True coccidioidomycosis primary systemic mycosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0005707 MONDO:0002428 True coccidiosis protozoa infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0005708 MONDO:0006009 True Colorado tick fever viral encephalitis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0005710 MONDO:0005062 True composite lymphoma lymphoma UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0005711 MONDO:0005728 True congenital diaphragmatic hernia diaphragm disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0005712 MONDO:0004843 True congenital nystagmus pathologic nystagmus UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0005714 MONDO:0005976 True congenital syphilis syphilis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0005714 MONDO:0016511 True congenital syphilis infectious embryofetopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005715 MONDO:0005989 True congenital toxoplasmosis toxoplasmosis UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0005715 MONDO:0016511 True congenital toxoplasmosis infectious embryofetopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005717 MONDO:0005108 True contagious pustular dermatitis viral infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0005723 MONDO:0006764 True Cryptococcal meningitis fungal meningitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0005724 MONDO:0002312 True cryptococcosis opportunistic mycosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0005725 MONDO:0005707 True cyclosporiasis coccidiosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0005729 MONDO:0004664 True dicrocoeliasis helminthiasis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0005731 MONDO:0016075 True dipetalonemiasis filariasis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0005736 MONDO:0006009 True eastern equine encephalitis viral encephalitis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0005737 MONDO:0018087 True Ebola hemorrhagic fever viral hemorrhagic fever UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005739 MONDO:0004664 True echinostomiasis helminthiasis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0005742 MONDO:0002155 True emphysematous cholecystitis cholecystitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0005743 MONDO:0005846 True encephalitozoonosis microsporidiosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0005749 MONDO:0005249 True eosinophilic pneumonia pneumonia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0005751 MONDO:0005108 True epidemic pleurodynia viral infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0005753 MONDO:0004867 True epiglottitis upper respiratory tract disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0005754 MONDO:0000415 True epilepsy with generalized tonic-clonic seizures adolescence-adult electroclinical syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0005756 MONDO:0005961 True ethmoid sinusitis sinusitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0005757 MONDO:0002040 True eumycotic mycetoma dermatomycosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0005758 MONDO:0002146 True eunuchism hypogonadism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0005759 MONDO:0004664 True fascioloidiasis helminthiasis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0005761 MONDO:0016075 True filarial elephantiasis filariasis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0005764 MONDO:0004380 True follicular dendritic cell sarcoma dendritic cell sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0005764 MONDO:0017345 True follicular dendritic cell sarcoma Epstein-Barr virus-associated mesenchymal tumor UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005767 MONDO:0000315 True gas gangrene commensal bacterial infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0005768 MONDO:0000368 True gastrointestinal tuberculosis extrapulmonary tuberculosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0005770 MONDO:0004609 True genital herpes herpes simplex infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0005771 MONDO:0001989 True geographic tongue atrophic glossitis UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0005772 MONDO:0002312 True geotrichosis opportunistic mycosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0005773 MONDO:0005071 True Gerstmann syndrome nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0005774 MONDO:0000314 True glanders primary bacterial infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0005775 MONDO:0019214 True G6PD deficiency inborn carbohydrate metabolic disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0005776 MONDO:0004664 True gnathomiasis helminthiasis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0005777 MONDO:0000314 True granuloma inguinale primary bacterial infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0005778 MONDO:0005994 True haemonchiasis trichostrongyloidiasis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0005783 MONDO:0001370 True hemopericardium pericardial effusion UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0005784 MONDO:0005240 True hantavirus hemorrhagic fever with renal syndrome kidney disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0005787 MONDO:0000369 True hepatic tuberculosis abdominal tuberculosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0005787 MONDO:0005768 True hepatic tuberculosis gastrointestinal tuberculosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0005791 MONDO:0005108 True herpangina viral infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0005802 MONDO:0004664 True hymenolepiasis helminthiasis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0005803 MONDO:0019214 True hyperinsulinemic hypoglycemia inborn carbohydrate metabolic disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0005805 MONDO:0019147 True hypodermyiasis myiasis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0005806 MONDO:0005517 True hypopharynx cancer pharynx cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005699 MONDO:0005631 True cervicofacial actinomycosis actinomycosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0005700 MONDO:0005608 True chickenpox varicella zoster infection UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0005705 MONDO:0004664 True clonorchiasis helminthiasis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0005707 MONDO:0002428 True coccidiosis protozoa infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0005709 MONDO:0001040 True common cold nasopharyngitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0005710 MONDO:0005062 True composite lymphoma lymphoma UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0005714 MONDO:0005976 True congenital syphilis syphilis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0005715 MONDO:0005989 True congenital toxoplasmosis toxoplasmosis UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0005722 MONDO:0004777 True croup acute laryngitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0005723 MONDO:0005724 True Cryptococcal meningitis cryptococcosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0005737 MONDO:0018087 True Ebola hemorrhagic fever viral hemorrhagic fever UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0005742 MONDO:0002155 True emphysematous cholecystitis cholecystitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0005753 MONDO:0020592 True epiglottitis disorder of pharynx UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0005756 MONDO:0005961 True ethmoid sinusitis sinusitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0005761 MONDO:0016075 True filarial elephantiasis filariasis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0005769 MONDO:0021666 True geniculate herpes zoster ear infection UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0005776 MONDO:0004664 True gnathomiasis helminthiasis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0005790 MONDO:0006011 True hepatitis A virus infection viral hepatitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0005798 MONDO:0024571 True HIV-associated nephropathy AIDS-related disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0005802 MONDO:0004664 True hymenolepiasis helminthiasis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0005806 MONDO:0005517 True hypopharynx cancer pharynx cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0005806 MONDO:0021358 True hypopharynx cancer neoplasm of hypopharynx UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005807 MONDO:0003783 True idiopathic CD4-positive T-lymphocytopenia lymphopenia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0005814 MONDO:0002516 True intestinal cancer digestive system cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005807 MONDO:0003780 True idiopathic CD4-positive T-lymphocytopenia T-cell immunodeficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0005808 MONDO:0006668 True inclusion conjunctivitis bacterial conjunctivitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0005810 MONDO:0005111 True infectious mononucleosis Epstein-Barr virus infection UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0005814 MONDO:0002516 True intestinal cancer digestive system cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0005814 MONDO:0021118 True intestinal cancer intestinal neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0005815 MONDO:0001933 True pancreatic neuroendocrine neoplasm endocrine pancreas disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0005815 MONDO:0021040 True pancreatic neuroendocrine neoplasm pancreatic neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005815 MONDO:0024503 True pancreatic neuroendocrine neoplasm digestive system neuroendocrine neoplasm UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005817 MONDO:0001162 True Kluver-Bucy syndrome impulse control disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0005819 MONDO:0002647 True laryngeal tuberculosis laryngitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0005821 MONDO:0005714 True late congenital syphilis congenital syphilis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0005822 MONDO:0005976 True latent syphilis syphilis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0005823 MONDO:0000314 True legionellosis primary bacterial infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0005824 MONDO:0005823 True Legionnaires' disease legionellosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0005825 MONDO:0000314 True leptospirosis primary bacterial infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0005826 MONDO:0002572 True lipid pneumonia aspiration pneumonitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0005827 MONDO:0005148 True lipoatrophic diabetes type 2 diabetes mellitus UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0005828 MONDO:0000314 True listeriosis primary bacterial infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0005831 MONDO:0000368 True lymph node tuberculosis extrapulmonary tuberculosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0005831 MONDO:0004928 True lymph node tuberculosis lymph node disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0005832 MONDO:0005833 True lymphangitis lymphatic system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0005834 MONDO:0005777 True lymphogranuloma venereum granuloma inguinale UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0005835 MONDO:0000426 True Lynch syndrome autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0005835 MONDO:0018630 True Lynch syndrome hereditary nonpolyposis colon cancer UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005836 MONDO:0002149 True male reproductive organ cancer reproductive system cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005815 MONDO:0024503 True pancreatic neuroendocrine neoplasm digestive system neuroendocrine neoplasm UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0005817 MONDO:0002254 True Kluver-Bucy syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0005819 MONDO:0002647 True laryngeal tuberculosis laryngitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0005822 MONDO:0005976 True latent syphilis syphilis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0005824 MONDO:0004652 True Legionnaires' disease bacterial pneumonia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0005835 MONDO:0018630 True Lynch syndrome hereditary nonpolyposis colon cancer UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0005836 MONDO:0002149 True male reproductive organ cancer reproductive system cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0005836 MONDO:0024582 True male reproductive organ cancer male reproductive system neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005837 MONDO:0002131 True mandibular cancer jaw cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0005838 MONDO:0016075 True mansonelliasis filariasis SUPPORTED SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0005842 MONDO:0005961 True maxillary sinusitis sinusitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0005843 MONDO:0003274 True mediastinal cancer thoracic cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005838 MONDO:0016075 True mansonelliasis filariasis SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0005842 MONDO:0005961 True maxillary sinusitis sinusitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0005843 MONDO:0003274 True mediastinal cancer thoracic cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0005843 MONDO:0021386 True mediastinal cancer neoplasm of mediastinum UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005846 MONDO:0002312 True microsporidiosis opportunistic mycosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0005847 MONDO:0005275 True middle lobe syndrome lung disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0005848 MONDO:0000368 True miliary tuberculosis extrapulmonary tuberculosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0005850 MONDO:0005108 True milker's nodule viral infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0005852 MONDO:0003767 True mitral valve stenosis mitral valve disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0005853 MONDO:0004992 True malignant mixed neoplasm cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005851 MONDO:0002254 True Miller Fisher syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0005853 MONDO:0004992 True malignant mixed neoplasm cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0005853 MONDO:0021043 True malignant mixed neoplasm mixed neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005854 MONDO:0016663 True mixed connective tissue disease overlapping connective tissue disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005855 MONDO:0005108 True molluscum contagiosum viral infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005854 MONDO:0005554 True mixed connective tissue disease rheumatic disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0005858 MONDO:0004957 True mucinous cystadenocarcinoma mucinous adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0005858 MONDO:0005596 True mucinous cystadenocarcinoma cystadenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0005859 MONDO:0011989 True mucocutaneous leishmaniasis leishmaniasis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0005864 MONDO:0000637 True muscle cancer musculoskeletal system cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0005865 MONDO:0017853 True mushroom workers' lung hypersensitivity pneumonitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0005866 MONDO:0000314 True mycobacterium avium complex disease primary bacterial infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0005867 MONDO:0004652 True Mycoplasma pneumoniae pneumonia bacterial pneumonia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0005870 MONDO:0004664 True necatoriasis helminthiasis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0005872 MONDO:0004992 True nervous system cancer cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005858 MONDO:0005596 True mucinous cystadenocarcinoma cystadenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0005859 MONDO:0011989 True mucocutaneous leishmaniasis leishmaniasis SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0005866 MONDO:0020590 True mycobacterium avium complex disease mycobacterial infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0005867 MONDO:0004652 True Mycoplasma pneumoniae pneumonia bacterial pneumonia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0005870 MONDO:0004664 True necatoriasis helminthiasis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0005872 MONDO:0004992 True nervous system cancer cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0005872 MONDO:0021248 True nervous system cancer nervous system neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005873 MONDO:0005657 True neuroaspergillosis aspergillosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0005874 MONDO:0015254 True neuroschistosomiasis schistosomiasis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0005875 MONDO:0005108 True Newcastle disease viral infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0005881 MONDO:0005917 True oligohydramnios placenta disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0005884 MONDO:0004664 True opisthorchiasis helminthiasis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0005885 MONDO:0002135 True optic neuritis optic nerve disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0005886 MONDO:0002026 True oral candidiasis candidiasis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0005886 MONDO:0006858 True oral candidiasis mouth disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0005887 MONDO:0005768 True oral tuberculosis gastrointestinal tuberculosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0005887 MONDO:0006858 True oral tuberculosis mouth disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0005888 MONDO:0000314 True ornithosis primary bacterial infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0005890 MONDO:0000837 True osteitis fibrosa bone resorption disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0005891 MONDO:0005994 True ostertagiasis trichostrongyloidiasis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005875 MONDO:0005108 True Newcastle disease viral infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0005878 MONDO:0017137 True ocular onchocerciasis onchocerciasis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0005884 MONDO:0004664 True opisthorchiasis helminthiasis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0005885 MONDO:0002135 True optic neuritis optic nerve disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0005886 MONDO:0002026 True oral candidiasis candidiasis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0005893 MONDO:0002120 True pancreatic endocrine carcinoma neuroendocrine carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0005893 MONDO:0005815 True pancreatic endocrine carcinoma pancreatic neuroendocrine neoplasm UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005893 MONDO:0005815 True pancreatic endocrine carcinoma pancreatic neuroendocrine neoplasm UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0005893 MONDO:0006181 True pancreatic endocrine carcinoma digestive system carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0005893 MONDO:0009831 True pancreatic endocrine carcinoma malignant pancreatic neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0005894 MONDO:0000308 True paracoccidioidomycosis primary systemic mycosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0005895 MONDO:0004664 True paragonimiasis helminthiasis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0005898 MONDO:0002884 True paronychia nail disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0005899 MONDO:0001142 True parotid disorder salivary gland disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0005900 MONDO:0005899 True parotitis parotid disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0005901 MONDO:0005113 True pasteurellosis bacterial infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0005903 MONDO:0000368 True pericardial tuberculosis extrapulmonary tuberculosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0005904 MONDO:0000474 True pericarditis pericardium disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0005905 MONDO:0003406 True periodic limb movement disorder sleep-wake disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0005907 MONDO:0002254 True persian gulf syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0005910 MONDO:0003778 True phagocyte bactericidal dysfunction inborn error of immunity UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0005911 MONDO:0005108 True pharyngoconjunctival fever viral infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0005912 MONDO:0002491 True phencyclidine abuse substance abuse UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0005915 MONDO:0024268 True pityriasis versicolor superficial mycosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0005916 MONDO:0005917 True placenta accreta placenta disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0005917 MONDO:0002654 True placenta disorder uterine disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0005918 MONDO:0005917 True placenta praevia placenta disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0005919 MONDO:0005917 True placental insufficiency placenta disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0005920 MONDO:0005136 True Plasmodium falciparum malaria malaria UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0005921 MONDO:0005136 True Plasmodium vivax malaria malaria UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0005922 MONDO:0000368 True pleural tuberculosis extrapulmonary tuberculosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0005928 MONDO:0000945 True post-thrombotic syndrome venous insufficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0005929 MONDO:0002050 True postpartum depression depressive disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0005933 MONDO:0005565 True pulmonary blastoma blastoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005893 MONDO:0009831 True pancreatic endocrine carcinoma malignant pancreatic neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0005895 MONDO:0004664 True paragonimiasis helminthiasis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0005905 MONDO:0003406 True periodic limb movement disorder sleep-wake disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0005906 MONDO:0005227 True peritonsillar abscess abscess UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0005911 MONDO:0005108 True pharyngoconjunctival fever viral infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0005916 MONDO:0005917 True placenta accreta placenta disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0005917 MONDO:0024575 True placenta disorder pregnancy disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0005918 MONDO:0005917 True placenta praevia placenta disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0005920 MONDO:0005136 True Plasmodium falciparum malaria malaria UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0005921 MONDO:0005136 True Plasmodium vivax malaria malaria UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0005922 MONDO:0000986 True pleural tuberculosis pleurisy UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0005929 MONDO:0002050 True postpartum depression depressive disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0005933 MONDO:0006279 True pulmonary blastoma lung sarcomatoid carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0005937 MONDO:0003406 True REM sleep behavior disorder sleep-wake disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0005938 MONDO:0005240 True renal tuberculosis kidney disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0005938 MONDO:0006002 True renal tuberculosis urogenital tuberculosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0005941 MONDO:0004992 True retroperitoneal cancer cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005937 MONDO:0003406 True REM sleep behavior disorder sleep-wake disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0005941 MONDO:0004992 True retroperitoneal cancer cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0005941 MONDO:0024645 True retroperitoneal cancer retroperitoneal neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005942 MONDO:0002254 True Reye syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0005945 MONDO:0000314 True rhinoscleroma primary bacterial infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0005946 MONDO:0000307 True rhinosporidiosis parasitic Ichthyosporea infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0005953 MONDO:0004970 True scirrhous adenocarcinoma adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0005954 MONDO:0019147 True screw worm infectious disease myiasis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0005956 MONDO:0019095 True septicemic plague plague SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0005957 MONDO:0016075 True setariasis filariasis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0005959 MONDO:0017853 True sick building syndrome hypersensitivity pneumonitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0005960 MONDO:0015926 True silicosis pneumoconiosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0005961 MONDO:0001735 True sinusitis paranasal sinus disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0005962 MONDO:0000368 True skeletal tuberculosis extrapulmonary tuberculosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0005964 MONDO:0005961 True sphenoid sinusitis sinusitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0005965 MONDO:0000836 True spinal stenosis disease of bone structure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0005966 MONDO:0000612 True spleen cancer lymphatic system cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005942 MONDO:0002254 True Reye syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0005952 MONDO:0021680 True scarlet fever streptococcal infection UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0005953 MONDO:0004970 True scirrhous adenocarcinoma adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0005956 MONDO:0019095 True septicemic plague plague SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0005960 MONDO:0015926 True silicosis pneumoconiosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0005961 MONDO:0001735 True sinusitis paranasal sinus disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0005961 MONDO:0021166 True sinusitis inflammatory disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0005964 MONDO:0005961 True sphenoid sinusitis sinusitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0005966 MONDO:0002516 True spleen cancer digestive system cancer SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0005966 MONDO:0036696 True spleen cancer spleen neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005967 MONDO:0000369 True splenic tuberculosis abdominal tuberculosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0005967 MONDO:0002332 True splenic tuberculosis splenic disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0005968 MONDO:0002041 True sporotrichosis fungal infectious disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0005971 MONDO:0000314 True staphyloenterotoxemia primary bacterial infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0005972 MONDO:0004652 True streptococcal pneumonia bacterial pneumonia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0005975 MONDO:0005441 True suppurative otitis media otitis media UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0005976 MONDO:0000314 True syphilis primary bacterial infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0005977 MONDO:0004944 True tabes dorsalis neurosyphilis UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0005978 MONDO:0002428 True theileriasis protozoa infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0005979 MONDO:0005385 True thoracic outlet syndrome vascular disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0005980 MONDO:0002875 True tick infestation parasitic ectoparasitic infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0005981 MONDO:0005980 True tick paralysis tick infestation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0005984 MONDO:0004678 True tinea pedis dermatophytosis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0005989 MONDO:0005707 True toxoplasmosis coccidiosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0005990 MONDO:0002567 True tracheitis tracheal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0005991 MONDO:0005664 True trench fever bartonellosis UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0005993 MONDO:0002154 True Trichomonas vaginitis urogenital infection trichomoniasis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005968 MONDO:0002041 True sporotrichosis fungal infectious disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0005971 MONDO:0024313 True staphyloenterotoxemia staphylococcal infection UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0005976 MONDO:0007000 True syphilis Treponema infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0005977 MONDO:0004944 True tabes dorsalis neurosyphilis UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0005979 MONDO:0002254 True thoracic outlet syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0005982 MONDO:0021201 True tinea infection skin infection UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0005984 MONDO:0004678 True tinea pedis dermatophytosis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0005990 MONDO:0002567 True tracheitis tracheal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0005993 MONDO:0002154 True Trichomonas vaginitis urogenital infection trichomoniasis SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0005993 MONDO:0021681 True Trichomonas vaginitis urogenital infection sexually transmitted disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005995 MONDO:0005994 True trichostrongylosis trichostrongyloidiasis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0005997 MONDO:0000471 True tricuspid valve stenosis tricuspid valve disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0005998 MONDO:0004389 True trombiculiasis mite infestation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0005999 MONDO:0018667 True tuberculous empyema pleural empyema UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0006000 MONDO:0000369 True tuberculous peritonitis abdominal tuberculosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0006000 MONDO:0005768 True tuberculous peritonitis gastrointestinal tuberculosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0006001 MONDO:0006026 True urinary schistosomiasis urinary bladder disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0006001 MONDO:0015254 True urinary schistosomiasis schistosomiasis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0006002 MONDO:0000368 True urogenital tuberculosis extrapulmonary tuberculosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0006003 MONDO:0002715 True uterine corpus cancer uterine cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005999 MONDO:0005242 True tuberculous empyema empyema UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006001 MONDO:0015254 True urinary schistosomiasis schistosomiasis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0006003 MONDO:0002715 True uterine corpus cancer uterine cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0006003 MONDO:0021254 True uterine corpus cancer corpus uteri neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006005 MONDO:0018087 True Venezuelan equine encephalitis viral hemorrhagic fever UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006006 MONDO:0002979 True verrucous carcinoma papillary squamous carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0006007 MONDO:0001926 True vesicoureteral reflux ureteral disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0006008 MONDO:0001563 True vestibular neuronitis vestibulocochlear nerve disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0006011 MONDO:0002251 True viral hepatitis hepatitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0006012 MONDO:0005249 True viral pneumonia pneumonia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0006015 MONDO:0019801 True Waterhouse-Friderichsen syndrome acute adrenal insufficiency UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006018 MONDO:0002254 True Wissler syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0006021 MONDO:0005356 True Prinzmetal angina coronary vasospasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0006025 MONDO:0000429 True autosomal recessive disease autosomal genetic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0006026 MONDO:0002118 True urinary bladder disorder urinary system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006009 MONDO:0020067 True viral encephalitis infectious encephalitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006011 MONDO:0002251 True viral hepatitis hepatitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0006011 MONDO:0043424 True viral hepatitis digestive system infectious disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006015 MONDO:0002254 True Waterhouse-Friderichsen syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0006026 MONDO:0002118 True urinary bladder disorder urinary system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0006028 MONDO:0002271 True cecum adenocarcinoma colon adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0006028 MONDO:0006029 True cecum adenocarcinoma cecum carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006028 MONDO:0006029 True cecum adenocarcinoma cecum carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0006029 MONDO:0002032 True cecum carcinoma colon carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0006029 MONDO:0002033 True cecum carcinoma cecum cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0006030 MONDO:0006032 True chronic cystitis cystitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0006032 MONDO:0006026 True cystitis urinary bladder disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006029 MONDO:0002033 True cecum carcinoma cecum cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0006030 MONDO:0006032 True chronic cystitis cystitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0006031 MONDO:0005961 True chronic rhinosinusitis sinusitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006032 MONDO:0006026 True cystitis urinary bladder disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0006034 MONDO:0006074 True gastric adenosquamous carcinoma adenosquamous carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0006035 MONDO:0005036 True gastric tubular adenocarcinoma gastric adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006035 MONDO:0005036 True gastric tubular adenocarcinoma gastric adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0006035 MONDO:0005606 True gastric tubular adenocarcinoma tubular adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0006036 MONDO:0006055 True granulosa cell tumor sex cord-stromal tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0006037 MONDO:0006025 True hydrolethalus syndrome autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006036 MONDO:0006055 True granulosa cell tumor sex cord-stromal tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0006039 MONDO:0005292 True infectious colitis colitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006039 MONDO:0043424 True infectious colitis digestive system infectious disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006041 MONDO:0005369 True lung carcinoid tumor carcinoid tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006041 MONDO:0005454 True lung carcinoid tumor lung neuroendocrine neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006042 MONDO:0006670 True meningeal tuberculosis bacterial meningitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006043 MONDO:0006256 True metaplastic breast carcinoma invasive breast carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006045 MONDO:0000548 True ovarian clear cell adenocarcinoma ovarian clear cell cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0006045 MONDO:0002752 True ovarian clear cell adenocarcinoma ovarian adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006045 MONDO:0002752 True ovarian clear cell adenocarcinoma ovarian adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0006045 MONDO:0005004 True ovarian clear cell adenocarcinoma clear cell adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0006046 MONDO:0002702 True ovarian serous cystadenocarcinoma ovarian cystadenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006046 MONDO:0002702 True ovarian serous cystadenocarcinoma ovarian cystadenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0006046 MONDO:0005211 True ovarian serous cystadenocarcinoma ovarian serous adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0006046 MONDO:0024621 True ovarian serous cystadenocarcinoma serous cystadenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006047 MONDO:0004970 True pancreatic adenocarcinoma adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0006047 MONDO:0005192 True pancreatic adenocarcinoma exocrine pancreatic carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006047 MONDO:0004970 True pancreatic adenocarcinoma adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0006047 MONDO:0005192 True pancreatic adenocarcinoma exocrine pancreatic carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0006049 MONDO:0002512 True papillary lung adenocarcinoma papillary adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0006049 MONDO:0005061 True papillary lung adenocarcinoma lung adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006049 MONDO:0005061 True papillary lung adenocarcinoma lung adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0006050 MONDO:0004953 True pleomorphic breast carcinoma invasive ductal breast carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006052 MONDO:0005087 True pulmonary tuberculosis respiratory system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0006052 MONDO:0018076 True pulmonary tuberculosis tuberculosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006052 MONDO:0005087 True pulmonary tuberculosis respiratory system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0006052 MONDO:0018076 True pulmonary tuberculosis tuberculosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0006053 MONDO:0001572 True renal leiomyoma leiomyoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006053 MONDO:0002513 True renal leiomyoma kidney benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006054 MONDO:0005039 True reproductive system neoplasm reproductive system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006054 MONDO:0005070 True reproductive system neoplasm neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006055 MONDO:0006054 True sex cord-stromal tumor reproductive system neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006056 MONDO:0005096 True squamous cell breast carcinoma squamous cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0006056 MONDO:0006043 True squamous cell breast carcinoma metaplastic breast carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006056 MONDO:0005096 True squamous cell breast carcinoma squamous cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0006058 MONDO:0005564 True Wilms tumor embryonal neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006058 MONDO:0005853 True Wilms tumor malignant mixed neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006059 MONDO:0003212 True nasal cavity squamous cell carcinoma nasal cavity carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS @@ -5659,17 +4065,18 @@ MONDO:0006067 MONDO:0004957 True acinar prostate mucinous adenocarcinoma mucinou MONDO:0006068 MONDO:0006373 True ACTH-producing pituitary gland adenoma pituitary gland adenoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006069 MONDO:0017582 True ACTH-producing pituitary gland carcinoma pituitary adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0006073 MONDO:0021445 True adenomatoid odontogenic tumor benign neoplasm of oral cavity UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006074 MONDO:0005096 True adenosquamous carcinoma squamous cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0006076 MONDO:0003606 True adrenal gland neuroblastoma adrenal medulla cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0006076 MONDO:0005872 True adrenal gland neuroblastoma nervous system cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0006077 MONDO:0005043 True adrenal medullary hyperplasia hyperplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006078 MONDO:0005062 True AIDS-related primary central nervous system lymphoma lymphoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006079 MONDO:0002038 True ameloblastic carcinoma head and neck carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006079 MONDO:0021192 True ameloblastic carcinoma odontogenic neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006081 MONDO:0001879 True anal melanoma anus cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0006082 MONDO:0003199 True anal squamous cell carcinoma anal carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0006085 MONDO:0005106 True angiolipoma lipoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006081 MONDO:0001879 True anal melanoma anus cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0006082 MONDO:0003199 True anal squamous cell carcinoma anal carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0006085 MONDO:0005106 True angiolipoma lipoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0006086 MONDO:0044335 True angiomyxoma benign soft tissue neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006087 MONDO:0003196 True appendix adenocarcinoma appendix carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006087 MONDO:0003196 True appendix adenocarcinoma appendix carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0006090 MONDO:0006249 True appendix hyperplastic polyp hyperplastic polyp UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006091 MONDO:0015066 True appendix neuroendocrine tumor G1 neuroendocrine tumor of the appendix, well differentiated, low or intermediate grade UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006092 MONDO:0006088 True appendix villous adenoma appendix adenoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006093 MONDO:0006155 True ascending colon neuroendocrine tumor G1 colon neuroendocrine tumor G1 UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -5680,6 +4087,9 @@ MONDO:0006098 MONDO:0002486 True atypical lobular breast hyperplasia lobular neo MONDO:0006098 MONDO:0005043 True atypical lobular breast hyperplasia hyperplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006102 MONDO:0004993 True basaloid carcinoma carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006103 MONDO:0004974 True benign adrenal gland pheochromocytoma adrenal gland pheochromocytoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006103 MONDO:0021468 True benign adrenal gland pheochromocytoma benign neoplasm of adrenal medulla UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006103 MONDO:0036976 True benign adrenal gland pheochromocytoma benign epithelial neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006104 MONDO:0000627 True benign carotid body paraganglioma benign endocrine neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006104 MONDO:0021053 True benign carotid body paraganglioma carotid body paraganglioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006105 MONDO:0020204 True benign conjunctival neoplasm conjunctival tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006105 MONDO:0021454 True benign conjunctival neoplasm benign neoplasm of eye UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -5688,7 +4098,7 @@ MONDO:0006106 MONDO:0006975 True benign smooth muscle neoplasm smooth muscle tum MONDO:0006107 MONDO:0015074 True benign thyroid gland neoplasm thyroid tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006108 MONDO:0006180 True bile duct adenoma digestive system adenoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0006108 MONDO:0021662 True bile duct adenoma bile duct neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006109 MONDO:0006292 True malignant biphasic mesothelioma malignant mesothelioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006109 MONDO:0006292 True malignant biphasic mesothelioma malignant mesothelioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0006111 MONDO:0004987 True bladder flat intraepithelial lesion urinary bladder neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006112 MONDO:0004987 True bladder inflammatory myofibroblastic tumor urinary bladder neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006112 MONDO:0015798 True bladder inflammatory myofibroblastic tumor inflammatory myofibroblastic tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -5696,9 +4106,12 @@ MONDO:0006115 MONDO:0011996 True blast phase chronic myelogenous leukemia, BCR-A MONDO:0006116 MONDO:0004989 True breast carcinoma by gene expression profile breast carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006117 MONDO:0003661 True breast diffuse large B-cell lymphoma breast lymphoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006117 MONDO:0018905 True breast diffuse large B-cell lymphoma diffuse large B-cell lymphoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006118 MONDO:0003724 True breast fibrosis non-proliferative fibrocystic change of the breast UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006118 MONDO:0003724 True breast fibrosis non-proliferative fibrocystic change of the breast UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0006119 MONDO:0007650 True breast mucosa-associated lymphoid tissue lymphoma MALT lymphoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006120 MONDO:0003240 True C-cell hyperplasia thyroid gland disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006120 MONDO:0005043 True C-cell hyperplasia hyperplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006121 MONDO:0005165 True calcifying fibrous tumor benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006122 MONDO:0002691 True calcifying nested epithelial stromal tumor of the liver liver cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006123 MONDO:0021450 True cardiac rhabdomyoma benign neoplasm of heart UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006123 MONDO:0036688 True cardiac rhabdomyoma rhabdomyoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006126 MONDO:0005694 True cecum neuroendocrine tumor G1 cecal neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -5708,28 +4121,30 @@ MONDO:0006128 MONDO:0020633 True central nervous system anaplastic large cell ly MONDO:0006128 MONDO:0044887 True central nervous system anaplastic large cell lymphoma central nervous system non-hodgkin lymphoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006130 MONDO:0002602 True central nervous system neoplasm central nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006130 MONDO:0021248 True central nervous system neoplasm nervous system neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006131 MONDO:0002913 True cerebellar liponeurocytoma cerebellar neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0006132 MONDO:0005131 True cervical adenoid basal carcinoma cervical carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006131 MONDO:0002913 True cerebellar liponeurocytoma cerebellar neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0006133 MONDO:0004971 True cervical adenoid cystic carcinoma adenoid cystic carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0006134 MONDO:0006074 True cervical adenosquamous carcinoma adenosquamous carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0006135 MONDO:0005004 True cervical clear cell adenocarcinoma clear cell adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0006135 MONDO:0005153 True cervical clear cell adenocarcinoma cervical adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006135 MONDO:0005153 True cervical clear cell adenocarcinoma cervical adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0006137 MONDO:0022394 True cervical intraepithelial neoplasia grade 2/3 cervical intraepithelial neoplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006138 MONDO:0005057 True cervical large cell neuroendocrine carcinoma large cell neuroendocrine carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0006138 MONDO:0005131 True cervical large cell neuroendocrine carcinoma cervical carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0006140 MONDO:0002742 True cervical mucinous adenocarcinoma, minimal deviation variant cervical mucinous adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0006141 MONDO:0002742 True cervical villoglandular adenocarcinoma cervical mucinous adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006138 MONDO:0005131 True cervical large cell neuroendocrine carcinoma cervical carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0006140 MONDO:0002742 True cervical mucinous adenocarcinoma, minimal deviation variant cervical mucinous adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0006141 MONDO:0003204 True cervical villoglandular adenocarcinoma villous adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0006142 MONDO:0000402 True cervical small cell carcinoma small cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0006142 MONDO:0005131 True cervical small cell carcinoma cervical carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0006143 MONDO:0005096 True cervical squamous cell carcinoma squamous cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0006143 MONDO:0005131 True cervical squamous cell carcinoma cervical carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0006144 MONDO:0002974 True cervical Wilms tumor cervical cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006142 MONDO:0005131 True cervical small cell carcinoma cervical carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0006143 MONDO:0005096 True cervical squamous cell carcinoma squamous cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0006143 MONDO:0005131 True cervical squamous cell carcinoma cervical carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0006144 MONDO:0002974 True cervical Wilms tumor cervical cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0006144 MONDO:0006058 True cervical Wilms tumor Wilms tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006145 MONDO:0008978 True chondroid chordoma chordoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006145 MONDO:0008978 True chondroid chordoma chordoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0006146 MONDO:0006499 True chondroid hamartoma hamartoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006149 MONDO:0021091 True clear cell papillary cystadenoma papillary cystadenoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006150 MONDO:0002035 True colon Burkitt lymphoma colon lymphoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006150 MONDO:0007243 True colon Burkitt lymphoma Burkitt lymphoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006152 MONDO:0021400 True colon inflammatory polyp polyp of colon UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006153 MONDO:0006161 True colon juvenile polyp colorectal juvenile polyp UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006153 MONDO:0021400 True colon juvenile polyp polyp of colon UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006154 MONDO:0002035 True colon mucosa-associated lymphoid tissue lymphoma colon lymphoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006155 MONDO:0006162 True colon neuroendocrine tumor G1 colorectal neuroendocrine tumor G1 UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006155 MONDO:0015067 True colon neuroendocrine tumor G1 neuroendocrine tumor of the colon, well differentiated, low or intermediate grade tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -5740,6 +4155,10 @@ MONDO:0006157 MONDO:0006074 True colorectal adenosquamous carcinoma adenosquamou MONDO:0006158 MONDO:0018905 True colorectal diffuse large B-cell lymphoma diffuse large B-cell lymphoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006158 MONDO:0024656 True colorectal diffuse large B-cell lymphoma colorectal lymphoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006159 MONDO:0005335 True colorectal gastrointestinal stromal tumor colorectal neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006160 MONDO:0006231 True colorectal hamartoma gastrointestinal hamartoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006160 MONDO:0021392 True colorectal hamartoma polyp of large intestine UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006161 MONDO:0006160 True colorectal juvenile polyp colorectal hamartoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006161 MONDO:0006258 True colorectal juvenile polyp juvenile polyp UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006162 MONDO:0005335 True colorectal neuroendocrine tumor G1 colorectal neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006162 MONDO:0021533 True colorectal neuroendocrine tumor G1 intestinal neuroendocrine tumor G1 UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006163 MONDO:0005008 True colorectal serrated adenocarcinoma colorectal adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -5751,21 +4170,21 @@ MONDO:0006167 MONDO:0002120 True combined lung carcinoma neuroendocrine carcinom MONDO:0006167 MONDO:0005138 True combined lung carcinoma lung carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006167 MONDO:0005454 True combined lung carcinoma lung neuroendocrine neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006167 MONDO:0005853 True combined lung carcinoma malignant mixed neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006170 MONDO:0005328 True conjunctival disorder eye disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006170 MONDO:0005328 True conjunctival disorder eye disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0006172 MONDO:0005073 True conjunctival nevus melanocytic nevus UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006172 MONDO:0006105 True conjunctival nevus benign conjunctival neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006173 MONDO:0002466 True conjunctival squamous cell carcinoma eye carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0006173 MONDO:0003454 True conjunctival squamous cell carcinoma conjunctival cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006173 MONDO:0003454 True conjunctival squamous cell carcinoma conjunctival cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0006174 MONDO:0003924 True cortisol-producing adrenal cortex adenoma adrenal cortex adenoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006176 MONDO:0004993 True cribriform carcinoma carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006178 MONDO:0016238 True dedifferentiated solitary fibrous tumor solitary fibrous tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006179 MONDO:0017795 True desmoplastic ameloblastoma ameloblastoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006180 MONDO:0004972 True digestive system adenoma adenoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006180 MONDO:0004972 True digestive system adenoma adenoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0006180 MONDO:0021223 True digestive system adenoma digestive system neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006181 MONDO:0002516 True digestive system carcinoma digestive system cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0006181 MONDO:0004993 True digestive system carcinoma carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006181 MONDO:0002516 True digestive system carcinoma digestive system cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0006181 MONDO:0004993 True digestive system carcinoma carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0006182 MONDO:0006181 True digestive system mixed adenoneuroendocrine carcinoma digestive system carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006183 MONDO:0000650 True disseminated peritoneal leiomyomatosis peritoneal benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006183 MONDO:0000650 True disseminated peritoneal leiomyomatosis peritoneal benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0006183 MONDO:0003295 True disseminated peritoneal leiomyomatosis leiomyomatosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0006184 MONDO:0004658 True ductal breast carcinoma in situ and lobular carcinoma in situ breast carcinoma in situ UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006186 MONDO:0003198 True duodenal adenocarcinoma small intestine adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS @@ -5778,43 +4197,46 @@ MONDO:0006189 MONDO:0024240 True eccrine porocarcinoma eccrine carcinoma UNSUPPO MONDO:0006190 MONDO:0021096 True endolymphatic sac tumor papillary epithelial neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006190 MONDO:0024320 True endolymphatic sac tumor inner ear neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006191 MONDO:0005004 True endometrial clear cell adenocarcinoma clear cell adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0006191 MONDO:0005461 True endometrial clear cell adenocarcinoma endometrium adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006191 MONDO:0005461 True endometrial clear cell adenocarcinoma endometrium adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0006192 MONDO:0005026 True endometrial endometrioid adenocarcinoma endometrioid adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006193 MONDO:0005043 True endometrial hyperplasia without atypia hyperplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006195 MONDO:0004701 True endometrial polyp uterine polyp UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006196 MONDO:0005278 True endometrial serous adenocarcinoma serous adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006197 MONDO:0000402 True endometrial small cell carcinoma small cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0006197 MONDO:0002447 True endometrial small cell carcinoma endometrial carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0006198 MONDO:0002447 True endometrial squamous cell carcinoma endometrial carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0006198 MONDO:0005096 True endometrial squamous cell carcinoma squamous cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006198 MONDO:0002447 True endometrial squamous cell carcinoma endometrial carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0006198 MONDO:0005096 True endometrial squamous cell carcinoma squamous cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0006199 MONDO:0002447 True endometrial undifferentiated carcinoma endometrial carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006199 MONDO:0005617 True endometrial undifferentiated carcinoma undifferentiated carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006200 MONDO:0002973 True epithelioid cell uveal melanoma epithelioid cell melanoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0006200 MONDO:0006486 True epithelioid cell uveal melanoma uveal melanoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0006201 MONDO:0001763 True ethmoid sinus adenoid cystic carcinoma ethmoid sinus cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006200 MONDO:0002973 True epithelioid cell uveal melanoma epithelioid cell melanoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0006200 MONDO:0006486 True epithelioid cell uveal melanoma uveal melanoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0006201 MONDO:0001763 True ethmoid sinus adenoid cystic carcinoma ethmoid sinus cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0006201 MONDO:0006352 True ethmoid sinus adenoid cystic carcinoma paranasal sinus adenoid cystic carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006203 MONDO:0003090 True extrahepatic bile duct squamous cell carcinoma extrahepatic bile duct carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006206 MONDO:0002158 True fallopian tube carcinoma fallopian tube cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0006206 MONDO:0004993 True fallopian tube carcinoma carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006206 MONDO:0002158 True fallopian tube carcinoma fallopian tube cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0006206 MONDO:0004993 True fallopian tube carcinoma carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0006207 MONDO:0002928 True fallopian tube carcinosarcoma carcinosarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0006208 MONDO:0002746 True fallopian tube serous adenocarcinoma fallopian tube adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006208 MONDO:0002746 True fallopian tube serous adenocarcinoma fallopian tube adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0006208 MONDO:0005278 True fallopian tube serous adenocarcinoma serous adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0006209 MONDO:0002616 True fibroblastic neoplasm mesenchymal cell neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006210 MONDO:0007256 True fibrolamellar hepatocellular carcinoma hepatocellular carcinoma UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006210 MONDO:0007256 True fibrolamellar hepatocellular carcinoma hepatocellular carcinoma UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0006211 MONDO:0024478 True fibrous hamartoma of infancy mesenchymal hamartoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006212 MONDO:0024483 True flat urothelial hyperplasia urothelial hyperplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006213 MONDO:0021343 True floor of mouth mucoepidermoid carcinoma carcinoma of floor of mouth UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006213 MONDO:0044964 True floor of mouth mucoepidermoid carcinoma oral cavity mucoepidermoid carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006214 MONDO:0004970 True follicular variant thyroid gland papillary carcinoma adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006215 MONDO:0003220 True gallbladder adenocarcinoma gallbladder carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0006215 MONDO:0004970 True gallbladder adenocarcinoma adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006215 MONDO:0003220 True gallbladder adenocarcinoma gallbladder carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0006215 MONDO:0004970 True gallbladder adenocarcinoma adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0006216 MONDO:0006180 True gallbladder adenoma digestive system adenoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0006216 MONDO:0021253 True gallbladder adenoma gallbladder neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006216 MONDO:0021416 True gallbladder adenoma polyp of gallbladder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006217 MONDO:0006074 True gallbladder adenosquamous carcinoma adenosquamous carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0006218 MONDO:0021253 True gallbladder biliary intraepithelial neoplasia gallbladder neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006219 MONDO:0000402 True gallbladder small cell neuroendocrine carcinoma small cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0006219 MONDO:0003220 True gallbladder small cell neuroendocrine carcinoma gallbladder carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006219 MONDO:0003220 True gallbladder small cell neuroendocrine carcinoma gallbladder carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0006219 MONDO:0024502 True gallbladder small cell neuroendocrine carcinoma gallbladder neuroendocrine neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006220 MONDO:0003220 True gallbladder squamous cell carcinoma gallbladder carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0006220 MONDO:0005096 True gallbladder squamous cell carcinoma squamous cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006220 MONDO:0003220 True gallbladder squamous cell carcinoma gallbladder carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0006220 MONDO:0005096 True gallbladder squamous cell carcinoma squamous cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0006221 MONDO:0006180 True gastric adenoma digestive system adenoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006221 MONDO:0008277 True gastric adenoma stomach polyp UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006221 MONDO:0021085 True gastric adenoma gastric neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -5822,34 +4244,36 @@ MONDO:0006222 MONDO:0003112 True gastric choriocarcinoma malignant gastric germ MONDO:0006222 MONDO:0003578 True gastric choriocarcinoma extragonadal nonseminomatous germ cell tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006222 MONDO:0005207 True gastric choriocarcinoma choriocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006223 MONDO:0018905 True gastric diffuse large B-cell lymphoma diffuse large B-cell lymphoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006224 MONDO:0006231 True gastric hamartomatous polyp gastrointestinal hamartoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006225 MONDO:0018876 True gastric mantle cell lymphoma mantle cell lymphoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006226 MONDO:0007650 True gastric mucosa-associated lymphoid tissue lymphoma MALT lymphoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006226 MONDO:0042493 True gastric mucosa-associated lymphoid tissue lymphoma gastric non-hodgkin lymphoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006227 MONDO:0005369 True gastric neuroendocrine tumor G1 carcinoid tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006227 MONDO:0015062 True gastric neuroendocrine tumor G1 gastric neuroendocrine tumor, well differentiated, low or intermediate grade UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006228 MONDO:0002512 True gastric papillary adenocarcinoma papillary adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0006228 MONDO:0005036 True gastric papillary adenocarcinoma gastric adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006228 MONDO:0005036 True gastric papillary adenocarcinoma gastric adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0006229 MONDO:0000402 True gastric small cell neuroendocrine carcinoma small cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0006229 MONDO:0003111 True gastric small cell neuroendocrine carcinoma gastric neuroendocrine neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0006229 MONDO:0004950 True gastric small cell neuroendocrine carcinoma gastric carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0006230 MONDO:0004950 True gastric squamous cell carcinoma gastric carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0006230 MONDO:0005096 True gastric squamous cell carcinoma squamous cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006229 MONDO:0004950 True gastric small cell neuroendocrine carcinoma gastric carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0006230 MONDO:0004950 True gastric squamous cell carcinoma gastric carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0006230 MONDO:0005096 True gastric squamous cell carcinoma squamous cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0006231 MONDO:0006499 True gastrointestinal hamartoma hamartoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006231 MONDO:0024292 True gastrointestinal hamartoma gastrointestinal polyp UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006233 MONDO:0002601 True gonadal teratoma teratoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006234 MONDO:0004647 True grade III prostatic intraepithelial neoplasia in situ carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0006234 MONDO:0005159 True grade III prostatic intraepithelial neoplasia prostate carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0006234 MONDO:0004647 True grade III prostatic intraepithelial neoplasia in situ carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0006234 MONDO:0005193 True grade III prostatic intraepithelial neoplasia prostate intraepithelial neoplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006235 MONDO:0002547 True granular cell tumor nerve sheath neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0006237 MONDO:0006861 True granulocytic sarcoma myeloid sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006238 MONDO:0006373 True growth hormone-producing pituitary gland adenoma pituitary gland adenoma UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006238 MONDO:0006373 True growth hormone-producing pituitary gland adenoma pituitary gland adenoma UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0006239 MONDO:0000448 True head and neck paraganglioma paraganglioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006239 MONDO:0005586 True head and neck paraganglioma head and neck neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006243 MONDO:0004970 True hepatoid adenocarcinoma adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006243 MONDO:0004970 True hepatoid adenocarcinoma adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0006244 MONDO:0006116 True HER2 positive breast carcinoma breast carcinoma by gene expression profile UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006245 MONDO:0005004 True hidradenocarcinoma clear cell adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006245 MONDO:0005524 True hidradenocarcinoma sweat gland carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006246 MONDO:0002628 True high grade surface osteosarcoma peripheral osteosarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006247 MONDO:0015757 True histiocytic and dendritic cell neoplasm lymphoid hemopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006247 MONDO:0044881 True histiocytic and dendritic cell neoplasm hematopoietic and lymphoid cell neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006249 MONDO:0005079 True hyperplastic polyp polyp UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006250 MONDO:0000540 True ileal neuroendocrine tumor G1 small intestinal neuroendocrine tumor G1 UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006250 MONDO:0015065 True ileal neuroendocrine tumor G1 ileal neuroendocrine tumor, well differentiated, low or intermediate grade UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006254 MONDO:0004970 True intestinal type adenocarcinoma adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -5859,16 +4283,15 @@ MONDO:0006256 MONDO:0004989 True invasive breast carcinoma breast carcinoma UNSU MONDO:0006256 MONDO:0040677 True invasive breast carcinoma invasive carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006257 MONDO:0000540 True jejunal neuroendocrine tumor G1 small intestinal neuroendocrine tumor G1 UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006257 MONDO:0015064 True jejunal neuroendocrine tumor G1 jejunal neuroendocrine tumor, well differentiated, low or intermediate grade UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006260 MONDO:0005086 True kidney medullary carcinoma renal cell carcinoma UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006262 MONDO:0002475 True lacrimal gland adenoid cystic carcinoma lacrimal gland adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006258 MONDO:0006231 True juvenile polyp gastrointestinal hamartoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006262 MONDO:0004971 True lacrimal gland adenoid cystic carcinoma adenoid cystic carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0006264 MONDO:0002358 True laryngeal adenoid cystic carcinoma laryngeal carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006264 MONDO:0002358 True laryngeal adenoid cystic carcinoma laryngeal carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0006264 MONDO:0004971 True laryngeal adenoid cystic carcinoma adenoid cystic carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0006265 MONDO:0000402 True laryngeal small cell carcinoma small cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0006265 MONDO:0002038 True laryngeal small cell carcinoma head and neck carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0006265 MONDO:0002358 True laryngeal small cell carcinoma laryngeal carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0006265 MONDO:0015070 True laryngeal small cell carcinoma laryngeal neuroendocrine neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0006266 MONDO:0006055 True Leydig cell tumor sex cord-stromal tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006266 MONDO:0006055 True Leydig cell tumor sex cord-stromal tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0006267 MONDO:0002404 True liver cavernous hemangioma liver hemangioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006267 MONDO:0003155 True liver cavernous hemangioma cavernous hemangioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006268 MONDO:0004695 True liver diffuse large B-cell lymphoma liver lymphoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -5887,14 +4310,13 @@ MONDO:0006277 MONDO:0020588 True lung lymphangioleiomyomatosis lung PEComa UNSUP MONDO:0006278 MONDO:0002363 True lung papilloma papilloma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006278 MONDO:0002732 True lung papilloma lung benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006279 MONDO:0006406 True lung sarcomatoid carcinoma sarcomatoid carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0006281 MONDO:0005061 True lung signet ring cell carcinoma lung adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0006284 MONDO:0000521 True major salivary gland carcinoma salivary gland carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006284 MONDO:0044743 True major salivary gland carcinoma major salivary gland cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006285 MONDO:0006284 True major salivary gland carcinoma ex pleomorphic adenoma major salivary gland carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006285 MONDO:0006403 True major salivary gland carcinoma ex pleomorphic adenoma salivary gland carcinoma ex pleomorphic adenoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006286 MONDO:0006284 True major salivary gland mucoepidermoid carcinoma major salivary gland carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006286 MONDO:0021009 True major salivary gland mucoepidermoid carcinoma salivary gland mucoepidermoid carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006287 MONDO:0002402 True malignancy in giant cell tumor of bone malignant giant cell tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006287 MONDO:0002402 True malignancy in giant cell tumor of bone malignant giant cell tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0006287 MONDO:0021054 True malignancy in giant cell tumor of bone bone sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0006288 MONDO:0004974 True malignant adrenal gland pheochromocytoma adrenal gland pheochromocytoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0006288 MONDO:0021089 True malignant adrenal gland pheochromocytoma peripheral nervous system cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -5903,72 +4325,77 @@ MONDO:0006290 MONDO:0005040 True malignant germ cell tumor germ cell tumor UNSUP MONDO:0006291 MONDO:0021064 True malignant jugulotympanic paraganglioma jugulotympanic paraganglioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006291 MONDO:0021069 True malignant jugulotympanic paraganglioma malignant endocrine neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006291 MONDO:0021089 True malignant jugulotympanic paraganglioma peripheral nervous system cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006292 MONDO:0004992 True malignant mesothelioma cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006292 MONDO:0004992 True malignant mesothelioma cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0006292 MONDO:0005065 True malignant mesothelioma mesothelioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006294 MONDO:0003274 True pleural cancer thoracic cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0006294 MONDO:0021065 True pleural cancer pleural neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006295 MONDO:0004992 True malignant urinary system neoplasm cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006295 MONDO:0004992 True malignant urinary system neoplasm cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0006295 MONDO:0021066 True malignant urinary system neoplasm urinary system neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006297 MONDO:0001748 True maxillary sinus adenoid cystic carcinoma maxillary sinus carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006297 MONDO:0001748 True maxillary sinus adenoid cystic carcinoma maxillary sinus carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0006297 MONDO:0006352 True maxillary sinus adenoid cystic carcinoma paranasal sinus adenoid cystic carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006298 MONDO:0003113 True mediastinal malignant germ cell tumor extragonadal germ cell cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006298 MONDO:0005843 True mediastinal malignant germ cell tumor mediastinal cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006298 MONDO:0021067 True mediastinal malignant germ cell tumor mediastinal germ cell tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006300 MONDO:0007959 True medullomyoblastoma with myogenic differentiation medulloblastoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0006301 MONDO:0002395 True metanephric adenoma renal adenoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006300 MONDO:0007959 True medullomyoblastoma with myogenic differentiation medulloblastoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0006301 MONDO:0002395 True metanephric adenoma renal adenoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0006302 MONDO:0004970 True micropapillary serous carcinoma adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006303 MONDO:0003190 True middle ear squamous cell carcinoma middle ear carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006303 MONDO:0003190 True middle ear squamous cell carcinoma middle ear carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0006303 MONDO:0010150 True middle ear squamous cell carcinoma head and neck squamous cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0006304 MONDO:0004970 True minor salivary gland adenocarcinoma adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006304 MONDO:0045069 True minor salivary gland adenocarcinoma minor salivary gland carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006306 MONDO:0004988 True mixed lobular and ductal breast carcinoma breast adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006307 MONDO:0004972 True mixed somatotroph-lactotroph pituitary gland adenoma adenoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006309 MONDO:0004957 True mucinous gastric adenocarcinoma mucinous adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0006309 MONDO:0005036 True mucinous gastric adenocarcinoma gastric adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006309 MONDO:0004957 True mucinous gastric adenocarcinoma mucinous adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0006309 MONDO:0005036 True mucinous gastric adenocarcinoma gastric adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0006312 MONDO:0003342 True myofibroma benign perivascular tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0006314 MONDO:0002232 True nasal cavity polyp nasal cavity disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006314 MONDO:0005079 True nasal cavity polyp polyp UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006316 MONDO:0005462 True neuroblastic tumor primitive neuroectodermal tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006317 MONDO:0002547 True neurothekeoma nerve sheath neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006320 MONDO:0005105 True non-cutaneous melanoma melanoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006321 MONDO:0003924 True non-functioning adrenal cortex adenoma adrenal cortex adenoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006321 MONDO:0021119 True non-functioning adrenal cortex adenoma non-functioning endocrine neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006322 MONDO:0002887 True non-neoplastic bile duct disorder bile duct disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006324 MONDO:0006116 True normal breast-like subtype of breast carcinoma breast carcinoma by gene expression profile UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006325 MONDO:0002236 True ocular melanoma ocular cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006325 MONDO:0002236 True ocular melanoma ocular cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0006325 MONDO:0005105 True ocular melanoma melanoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0006326 MONDO:0006325 True ocular melanoma with extraocular extension ocular melanoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006327 MONDO:0002466 True ocular sebaceous carcinoma eye carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006327 MONDO:0006962 True ocular sebaceous carcinoma sebaceous adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006329 MONDO:0002433 True olfactory neuroblastoma malignant cranial nerve neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006329 MONDO:0002433 True olfactory neuroblastoma malignant cranial nerve neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0006329 MONDO:0002722 True olfactory neuroblastoma olfactory nerve neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0006329 MONDO:0002749 True olfactory neuroblastoma extracranial neuroblastoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0006330 MONDO:0037745 True ossifying fibromyxoid tumor fibromyxoid tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006335 MONDO:0002752 True ovarian endometrioid adenocarcinoma ovarian adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006335 MONDO:0002752 True ovarian endometrioid adenocarcinoma ovarian adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0006335 MONDO:0003812 True ovarian endometrioid adenocarcinoma ovarian endometrial cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0006335 MONDO:0005026 True ovarian endometrioid adenocarcinoma endometrioid adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006336 MONDO:0006335 True ovarian endometrioid adenocarcinoma with squamous differentiation ovarian endometrioid adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006337 MONDO:0005133 True ovarian endometriosis endometriosis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0006337 MONDO:0005558 True ovarian endometriosis ovarian disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006337 MONDO:0005133 True ovarian endometriosis endometriosis SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0006337 MONDO:0005558 True ovarian endometriosis ovarian disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0006339 MONDO:0024387 True ovarian microcystic stromal tumor benign ovarian sex cord-stromal tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006340 MONDO:0000646 True ovarian serous adenofibroma ovarian benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006340 MONDO:0000646 True ovarian serous adenofibroma ovarian benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0006340 MONDO:0024886 True ovarian serous adenofibroma serous adenofibroma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006343 MONDO:0005140 True ovarian transitional cell carcinoma ovarian carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0006343 MONDO:0006474 True ovarian transitional cell carcinoma transitional cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006343 MONDO:0006474 True ovarian transitional cell carcinoma transitional cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0006344 MONDO:0005744 True ovarian yolk sac tumor yolk sac tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0006344 MONDO:0016096 True ovarian yolk sac tumor malignant non-dysgerminomatous germ cell tumor of ovary UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006345 MONDO:0016037 True palmar fibromatosis superficial Fibromatosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006346 MONDO:0004965 True pancreatic acinar cell carcinoma acinar cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0006346 MONDO:0006047 True pancreatic acinar cell carcinoma pancreatic adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006346 MONDO:0006047 True pancreatic acinar cell carcinoma pancreatic adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0006347 MONDO:0005057 True pancreatic large cell neuroendocrine carcinoma large cell neuroendocrine carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006347 MONDO:0005893 True pancreatic large cell neuroendocrine carcinoma pancreatic endocrine carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006348 MONDO:0000402 True pancreatic small cell neuroendocrine carcinoma small cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006348 MONDO:0005893 True pancreatic small cell neuroendocrine carcinoma pancreatic endocrine carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006349 MONDO:0021077 True papillary cystic neoplasm cystic neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006349 MONDO:0021096 True papillary cystic neoplasm papillary epithelial neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006350 MONDO:0006474 True papillary transitional cell carcinoma transitional cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006350 MONDO:0006474 True papillary transitional cell carcinoma transitional cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0006350 MONDO:0006509 True papillary transitional cell carcinoma papillary carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0006351 MONDO:0002380 True parachordoma myoepithelial tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0006352 MONDO:0000380 True paranasal sinus adenoid cystic carcinoma paranasal sinus carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006352 MONDO:0004971 True paranasal sinus adenoid cystic carcinoma adenoid cystic carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006353 MONDO:0005289 True paranasal sinus Schneiderian papilloma paranasal sinus neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006353 MONDO:0021078 True paranasal sinus Schneiderian papilloma glandular papilloma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006354 MONDO:0005043 True parathyroid hyperplasia hyperplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006355 MONDO:0004965 True parotid gland acinic cell carcinoma acinar cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006355 MONDO:0021331 True parotid gland acinic cell carcinoma carcinoma of parotid gland UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006356 MONDO:0021331 True parotid gland adenoid cystic carcinoma carcinoma of parotid gland UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -5978,26 +4405,29 @@ MONDO:0006357 MONDO:0021331 True parotid gland carcinoma ex pleomorphic adenoma MONDO:0006358 MONDO:0021331 True parotid gland squamous cell carcinoma carcinoma of parotid gland UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006358 MONDO:0044740 True parotid gland squamous cell carcinoma salivary gland squamous cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006359 MONDO:0006424 True neoplasm with perivascular epithelioid cell differentiation soft tissue neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006360 MONDO:0001325 True penile carcinoma penile cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0006360 MONDO:0004993 True penile carcinoma carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006360 MONDO:0001325 True penile carcinoma penile cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0006360 MONDO:0004993 True penile carcinoma carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0006361 MONDO:0016037 True penile fibromatosis superficial Fibromatosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006362 MONDO:0005065 True peritoneal mesothelioma mesothelioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006362 MONDO:0006901 True peritoneal mesothelioma peritoneal neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006363 MONDO:0006362 True peritoneal multicystic mesothelioma peritoneal mesothelioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006364 MONDO:0003688 True peritoneal well differentiated papillary mesothelioma well differentiated papillary mesothelioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006364 MONDO:0006362 True peritoneal well differentiated papillary mesothelioma peritoneal mesothelioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006365 MONDO:0006231 True Peutz-Jeghers polyp gastrointestinal hamartoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006366 MONDO:0006224 True Peutz-Jeghers polyp of the stomach gastric hamartomatous polyp UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006366 MONDO:0006365 True Peutz-Jeghers polyp of the stomach Peutz-Jeghers polyp UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006367 MONDO:0002038 True pharyngeal adenoid cystic carcinoma head and neck carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006367 MONDO:0004971 True pharyngeal adenoid cystic carcinoma adenoid cystic carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006367 MONDO:0005517 True pharyngeal adenoid cystic carcinoma pharynx cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006367 MONDO:0021345 True pharyngeal adenoid cystic carcinoma carcinoma of pharynx UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006368 MONDO:0005070 True phosphaturic mesenchymal tumor neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006369 MONDO:0024890 True pineal parenchymal tumor of intermediate differentiation pineal parenchymal cell neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006372 MONDO:0003257 True pituicytoma posterior pituitary gland neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0006372 MONDO:0016685 True pituicytoma low-grade astrocytoma UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006373 MONDO:0004972 True pituitary gland adenoma adenoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0006373 MONDO:0017611 True pituitary gland adenoma pituitary tumor UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006374 MONDO:0002178 True placental choriocarcinoma placenta cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0006374 MONDO:0020550 True placental choriocarcinoma gestational choriocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0006375 MONDO:0006500 True placental hemangioma hemangioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006372 MONDO:0003257 True pituicytoma posterior pituitary gland neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0006373 MONDO:0004972 True pituitary gland adenoma adenoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0006373 MONDO:0017611 True pituitary gland adenoma pituitary tumor UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006374 MONDO:0002178 True placental choriocarcinoma placenta cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0006374 MONDO:0020550 True placental choriocarcinoma gestational choriocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0006375 MONDO:0006500 True placental hemangioma hemangioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0006375 MONDO:0021498 True placental hemangioma benign neoplasm of placenta UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006377 MONDO:0006109 True pleural biphasic mesothelioma malignant biphasic mesothelioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006378 MONDO:0005112 True pleural epithelioid mesothelioma malignant pleural mesothelioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -6012,12 +4442,13 @@ MONDO:0006386 MONDO:0015686 True primary peritoneal serous adenocarcinoma primar MONDO:0006387 MONDO:0018905 True primary pulmonary diffuse large B-cell lymphoma diffuse large B-cell lymphoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006387 MONDO:0020644 True primary pulmonary diffuse large B-cell lymphoma lung non-Hodgkin lymphoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006388 MONDO:0017582 True prolactin-producing pituitary gland carcinoma pituitary adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006389 MONDO:0002854 True prostate rhabdomyosarcoma prostate sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006389 MONDO:0002854 True prostate rhabdomyosarcoma prostate sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0006389 MONDO:0005212 True prostate rhabdomyosarcoma rhabdomyosarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0006390 MONDO:0000402 True prostate small cell carcinoma small cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0006390 MONDO:0002477 True prostate small cell carcinoma prostate neuroendocrine neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0006390 MONDO:0005159 True prostate small cell carcinoma prostate carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0006391 MONDO:0006221 True pyloric gland adenoma gastric adenoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006392 MONDO:0021398 True rectal hyperplastic polyp polyp of rectum UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006393 MONDO:0000530 True rectal traditional serrated adenoma rectum adenoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006394 MONDO:0000530 True rectal tubular adenoma rectum adenoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006394 MONDO:0024660 True rectal tubular adenoma tubular adenoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -6037,14 +4468,13 @@ MONDO:0006404 MONDO:0000521 True salivary gland large cell carcinoma salivary gl MONDO:0006404 MONDO:0005232 True salivary gland large cell carcinoma large cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006405 MONDO:0000402 True salivary gland small cell carcinoma small cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006405 MONDO:0000521 True salivary gland small cell carcinoma salivary gland carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006406 MONDO:0004993 True sarcomatoid carcinoma carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006406 MONDO:0004993 True sarcomatoid carcinoma carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0006406 MONDO:0020633 True sarcomatoid carcinoma anaplastic cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006407 MONDO:0006292 True sarcomatoid mesothelioma malignant mesothelioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006407 MONDO:0006292 True sarcomatoid mesothelioma malignant mesothelioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0006408 MONDO:0003924 True sex hormone-producing adrenal cortex adenoma adrenal cortex adenoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006409 MONDO:0005036 True signet ring cell gastric adenocarcinoma gastric adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006409 MONDO:0005036 True signet ring cell gastric adenocarcinoma gastric adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0006409 MONDO:0005092 True signet ring cell gastric adenocarcinoma signet ring cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0006411 MONDO:0005617 True sinonasal undifferentiated carcinoma undifferentiated carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006412 MONDO:0015531 True sinus histiocytosis with massive lymphadenopathy non-Langerhans cell histiocytosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006414 MONDO:0003363 True skin sarcoma malignant dermis tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0006414 MONDO:0018078 True skin sarcoma soft tissue sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006416 MONDO:0001852 True small intestinal Burkitt lymphoma small intestine lymphoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -6065,64 +4495,64 @@ MONDO:0006423 MONDO:0002360 True soft tissue chondroma chondroma UNSUPPORTED-MIS MONDO:0006423 MONDO:0044335 True soft tissue chondroma benign soft tissue neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006424 MONDO:0044334 True soft tissue neoplasm connective and soft tissue neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006426 MONDO:0000640 True spinal cord primitive neuroectodermal tumor central nervous system primitive neuroectodermal neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0006426 MONDO:0003544 True spinal cord primitive neuroectodermal tumor spinal cord cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0006427 MONDO:0005105 True spindle cell melanoma melanoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006426 MONDO:0003544 True spinal cord primitive neuroectodermal tumor spinal cord cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0006427 MONDO:0005105 True spindle cell melanoma melanoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0006428 MONDO:0018905 True splenic diffuse large B-cell lymphoma diffuse large B-cell lymphoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006429 MONDO:0004952 True splenic hodgkin lymphoma Hodgkins lymphoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006430 MONDO:0018876 True splenic mantle cell lymphoma mantle cell lymphoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006432 MONDO:0019004 True stromal predominant kidney Wilms tumor kidney Wilms tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006432 MONDO:0019004 True stromal predominant kidney Wilms tumor kidney Wilms tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0006435 MONDO:0004724 True submandibular gland adenocarcinoma submandibular gland cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006435 MONDO:0004970 True submandibular gland adenocarcinoma adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006436 MONDO:0004724 True submandibular gland adenoid cystic carcinoma submandibular gland cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006436 MONDO:0045063 True submandibular gland adenoid cystic carcinoma major salivary gland adenoid cystic carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006438 MONDO:0044334 True synovial chondromatosis connective and soft tissue neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006442 MONDO:0005167 True tendon sheath fibroma fibroma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006444 MONDO:0002601 True teratoma with malignant transformation teratoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006444 MONDO:0002601 True teratoma with malignant transformation teratoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0006446 MONDO:0002874 True testicular embryonal carcinoma testicular pure germ cell tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0006446 MONDO:0003403 True testicular embryonal carcinoma testicular non-seminomatous germ cell cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0006446 MONDO:0005440 True testicular embryonal carcinoma embryonal carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0006446 MONDO:0005564 True testicular embryonal carcinoma embryonal neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0006447 MONDO:0010108 True testicular non-seminomatous germ cell tumor testicular germ cell tumor UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0006451 MONDO:0002586 True thymic carcinoma thymus cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0006451 MONDO:0004993 True thymic carcinoma carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0006451 MONDO:0018079 True thymic carcinoma thymic epithelial neoplasm UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006446 MONDO:0005440 True testicular embryonal carcinoma embryonal carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0006447 MONDO:0010108 True testicular non-seminomatous germ cell tumor testicular germ cell tumor UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0006451 MONDO:0002586 True thymic carcinoma thymus cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0006451 MONDO:0004993 True thymic carcinoma carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0006451 MONDO:0018079 True thymic carcinoma thymic epithelial neoplasm UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006452 MONDO:0006406 True thymic sarcomatoid carcinoma sarcomatoid carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0006452 MONDO:0006451 True thymic sarcomatoid carcinoma thymic carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006452 MONDO:0006451 True thymic sarcomatoid carcinoma thymic carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0006455 MONDO:0005617 True thymic undifferentiated carcinoma undifferentiated carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006455 MONDO:0006451 True thymic undifferentiated carcinoma thymic carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006456 MONDO:0018079 True thymoma thymic epithelial neoplasm UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006458 MONDO:0016974 True thymoma type B3 thymoma type B UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0006459 MONDO:0016974 True thymoma type B1 thymoma type B UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006456 MONDO:0018079 True thymoma thymic epithelial neoplasm UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006458 MONDO:0016974 True thymoma type B3 thymoma type B UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0006459 MONDO:0016974 True thymoma type B1 thymoma type B UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0006462 MONDO:0018905 True thyroid gland diffuse large B-cell lymphoma diffuse large B-cell lymphoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006462 MONDO:0019962 True thyroid gland diffuse large B-cell lymphoma thyroid lymphoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006463 MONDO:0003036 True thyroid gland mucoepidermoid carcinoma mucoepidermoid carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0006464 MONDO:0007650 True thyroid gland mucosa-associated lymphoid tissue lymphoma MALT lymphoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006465 MONDO:0004970 True thyroid gland oncocytic follicular carcinoma adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006466 MONDO:0015075 True thyroid gland spindle cell tumor with thymus-like differentiation thyroid gland carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006466 MONDO:0015075 True thyroid gland spindle cell tumor with thymus-like differentiation thyroid gland carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0006467 MONDO:0005096 True thyroid gland squamous cell carcinoma squamous cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006467 MONDO:0015075 True thyroid gland squamous cell carcinoma thyroid gland carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006468 MONDO:0005232 True thyroid gland undifferentiated (anaplastic) carcinoma large cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0006468 MONDO:0005617 True thyroid gland undifferentiated (anaplastic) carcinoma undifferentiated carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006468 MONDO:0015075 True thyroid gland undifferentiated (anaplastic) carcinoma thyroid gland carcinoma UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0006469 MONDO:0002422 True tibial adamantinoma adamantinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0006471 MONDO:0003184 True tracheal adenoid cystic carcinoma trachea carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006468 MONDO:0015075 True thyroid gland undifferentiated (anaplastic) carcinoma thyroid gland carcinoma UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0006469 MONDO:0002422 True tibial adamantinoma adamantinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0006471 MONDO:0003184 True tracheal adenoid cystic carcinoma trachea carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0006471 MONDO:0004971 True tracheal adenoid cystic carcinoma adenoid cystic carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0006474 MONDO:0004993 True transitional cell carcinoma carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006474 MONDO:0004993 True transitional cell carcinoma carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0006476 MONDO:0003220 True undifferentiated gallbladder carcinoma gallbladder carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006476 MONDO:0005617 True undifferentiated gallbladder carcinoma undifferentiated carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006477 MONDO:0005140 True undifferentiated ovarian carcinoma ovarian carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006477 MONDO:0005617 True undifferentiated ovarian carcinoma undifferentiated carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006478 MONDO:0005184 True undifferentiated pancreatic carcinoma pancreatic ductal adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006479 MONDO:0006478 True undifferentiated pancreatic carcinoma with osteoclast-like giant cells undifferentiated pancreatic carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006480 MONDO:0002142 True undifferentiated pleomorphic sarcoma, inflammatory variant undifferentiated pleomorphic sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0006481 MONDO:0004993 True ureter carcinoma carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0006481 MONDO:0008627 True ureter carcinoma ureter cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006480 MONDO:0002142 True undifferentiated pleomorphic sarcoma, inflammatory variant undifferentiated pleomorphic sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0006481 MONDO:0004993 True ureter carcinoma carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0006481 MONDO:0008627 True ureter carcinoma ureter cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0006482 MONDO:0000402 True ureter small cell carcinoma small cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0006482 MONDO:0006481 True ureter small cell carcinoma ureter carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0006484 MONDO:0004007 True usual ductal breast hyperplasia breast intraductal proliferative lesion UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006484 MONDO:0005043 True usual ductal breast hyperplasia hyperplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006485 MONDO:0002715 True uterine carcinosarcoma uterine cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006485 MONDO:0002715 True uterine carcinosarcoma uterine cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0006485 MONDO:0002928 True uterine carcinosarcoma carcinosarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0006486 MONDO:0002659 True uveal melanoma uveal cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006486 MONDO:0002659 True uveal melanoma uveal cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0006486 MONDO:0006325 True uveal melanoma ocular melanoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0006487 MONDO:0004971 True vaginal adenoid cystic carcinoma adenoid cystic carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006488 MONDO:0037746 True vaginal carcinosarcoma malignant vaginal mixed epithelial and mesenchymal neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -6131,5521 +4561,2484 @@ MONDO:0006489 MONDO:0021050 True vaginal melanoma vaginal neoplasm UNSUPPORTED-M MONDO:0006490 MONDO:0001806 True vaginal squamous cell carcinoma vaginal squamous tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006490 MONDO:0005096 True vaginal squamous cell carcinoma squamous cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006490 MONDO:0015867 True vaginal squamous cell carcinoma vaginal carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006491 MONDO:0001938 True vulvar lichen sclerosus vulvar dystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006491 MONDO:0007899 True vulvar lichen sclerosus lichen sclerosus et atrophicus UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006493 MONDO:0036976 True Warthin tumor benign epithelial neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006497 MONDO:0006496 True cerebral palsy palsy SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006498 MONDO:0000527 True adenomatous colon polyp colon adenoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006498 MONDO:0021400 True adenomatous colon polyp polyp of colon UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006500 MONDO:0024286 True hemangioma benign blood vessel neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0006504 MONDO:0005066 True acquired metabolic disease metabolic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0006505 MONDO:0011057 True basal ganglia cerebrovascular disorder cerebrovascular disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0006506 MONDO:0003689 True congenital nonspherocytic hemolytic anemia familial hemolytic anemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0006507 MONDO:0004689 True hereditary hemochromatosis inborn metal metabolism disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0006509 MONDO:0004993 True papillary carcinoma carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006502 MONDO:0002254 True acute respiratory distress syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006507 MONDO:0001436 True hereditary hemochromatosis hemosiderosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0006509 MONDO:0004993 True papillary carcinoma carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0006509 MONDO:0021096 True papillary carcinoma papillary epithelial neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006510 MONDO:0005240 True renal tubular transport disease kidney disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0006515 MONDO:0004982 True acute pancreatitis pancreatitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006515 MONDO:0004982 True acute pancreatitis pancreatitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0006517 MONDO:0004992 True childhood malignant neoplasm cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006517 MONDO:0021079 True childhood malignant neoplasm childhood neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006519 MONDO:0002165 True rectal cancer rectal neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0006519 MONDO:0005575 True rectal cancer colorectal cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0006520 MONDO:0005093 True Achenbach syndrome skin disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0006521 MONDO:0002406 True acneiform dermatitis dermatitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0006522 MONDO:0006566 True acquired keratosis keratosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0006523 MONDO:0002406 True acrodermatitis dermatitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0006524 MONDO:0006523 True acrodermatitis chronica atrophicans acrodermatitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0006525 MONDO:0005480 True allergic contact dermatitis contact dermatitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0006526 MONDO:0005492 True allergic urticaria urticaria SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0006527 MONDO:0006615 True anhidrosis sweat gland disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0006528 MONDO:0006547 True bacterial exanthem exanthem UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0006530 MONDO:0006566 True cholesteatoma keratosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0006531 MONDO:0006533 True cholesteatoma of attic cholesteatoma of middle ear UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0006532 MONDO:0002776 True cholesteatoma of external ear external ear disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0006532 MONDO:0006530 True cholesteatoma of external ear cholesteatoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0006533 MONDO:0003276 True cholesteatoma of middle ear middle ear disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0006533 MONDO:0006530 True cholesteatoma of middle ear cholesteatoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0006534 MONDO:0006599 True cholinergic urticaria physical urticaria UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0006536 MONDO:0027766 True congenital generalized lipodystrophy generalized lipodystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0006539 MONDO:0006574 True diffuse lipomatosis lipomatosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0006540 MONDO:0006615 True dyshidrosis sweat gland disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0006541 MONDO:0006617 True epidermolysis bullosa vesiculobullous skin disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0006543 MONDO:0019276 True epidermolysis bullosa dystrophica inherited epidermolysis bullosa UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006544 MONDO:0005108 True erythema infectiosum viral infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0006544 MONDO:0006619 True erythema infectiosum viral exanthem UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0006545 MONDO:0005093 True erythema multiforme skin disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0006546 MONDO:0005093 True erythematosquamous dermatosis skin disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0006547 MONDO:0005093 True exanthem skin disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0006548 MONDO:0005093 True facial dermatosis skin disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0006550 MONDO:0004184 True fibroepithelial polyp of urethra urethral disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0006551 MONDO:0006607 True alopecia mucinosa sebaceous gland disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0006552 MONDO:0002406 True folliculitis dermatitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0006552 MONDO:0002917 True folliculitis disorder of pilosebaceous unit UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0006553 MONDO:0006615 True Fox-Fordyce disease sweat gland disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0006554 MONDO:0002406 True granuloma annulare dermatitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0006555 MONDO:0002406 True granulomatous dermatitis dermatitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0006556 MONDO:0005093 True hand dermatosis skin disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0006557 MONDO:0000652 True hemangioma of subcutaneous tissue integumentary system benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0006557 MONDO:0006500 True hemangioma of subcutaneous tissue hemangioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0006558 MONDO:0006594 True pemphigoid gestationis pemphigus UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0006559 MONDO:0002260 True hidradenitis suppurativa hidradenitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0006561 MONDO:0003382 True eyelid hypopigmentation eyelid disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0006563 MONDO:0008420 True inverted follicular keratosis seborrheic keratosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0006564 MONDO:0005480 True irritant dermatitis contact dermatitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0006565 MONDO:0015614 True juvenile dermatitis herpetiformis dermatitis herpetiformis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0006566 MONDO:0005093 True keratosis skin disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0006569 MONDO:0005093 True leg dermatosis skin disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0006570 MONDO:0005093 True lichen disease skin disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0006571 MONDO:0006570 True lichen nitidus lichen disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0006572 MONDO:0006570 True lichen planus lichen disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006519 MONDO:0005575 True rectal cancer colorectal cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0006520 MONDO:0002254 True Achenbach syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0006521 MONDO:0002406 True acneiform dermatitis dermatitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0006522 MONDO:0006566 True acquired keratosis keratosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0006523 MONDO:0002406 True acrodermatitis dermatitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0006525 MONDO:0005480 True allergic contact dermatitis contact dermatitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0006526 MONDO:0005492 True allergic urticaria urticaria SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0006532 MONDO:0002776 True cholesteatoma of external ear external ear disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0006533 MONDO:0003276 True cholesteatoma of middle ear middle ear disorder SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0006533 MONDO:0006530 True cholesteatoma of middle ear cholesteatoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0006539 MONDO:0006574 True diffuse lipomatosis lipomatosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0006544 MONDO:0005108 True erythema infectiosum viral infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0006545 MONDO:0005093 True erythema multiforme skin disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0006546 MONDO:0005093 True erythematosquamous dermatosis skin disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0006549 MONDO:0060765 True fibroepithelial polyp of the anus fibroepithelial polyp UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006549 MONDO:0060766 True fibroepithelial polyp of the anus anal polyp UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006550 MONDO:0004184 True fibroepithelial polyp of urethra urethral disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0006550 MONDO:0060765 True fibroepithelial polyp of urethra fibroepithelial polyp UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006552 MONDO:0002917 True folliculitis disorder of pilosebaceous unit UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0006555 MONDO:0002406 True granulomatous dermatitis dermatitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0006557 MONDO:0006500 True hemangioma of subcutaneous tissue hemangioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0006563 MONDO:0008420 True inverted follicular keratosis seborrheic keratosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0006564 MONDO:0005480 True irritant dermatitis contact dermatitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0006566 MONDO:0005093 True keratosis skin disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0006567 MONDO:0018477 True kernicterus due to isoimmunization bilirubin encephalopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0006572 MONDO:0002406 True lichen planus dermatitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0006573 MONDO:0005066 True lipodystrophy metabolic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0006574 MONDO:0044983 True lipomatosis benign lipomatous neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006576 MONDO:0005230 True Ludwig's angina cellulitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0006577 MONDO:0001735 True maxillary sinus cholesteatoma paranasal sinus disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0006577 MONDO:0006530 True maxillary sinus cholesteatoma cholesteatoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0006578 MONDO:0006574 True mediastinal lipomatosis lipomatosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0006579 MONDO:0008420 True melanoacanthoma seborrheic keratosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0006580 MONDO:0006615 True miliaria sweat gland disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0006581 MONDO:0006580 True miliaria rubra miliaria UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0006582 MONDO:0005093 True mongolian spot skin disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0006583 MONDO:0021154 True necrobiosis lipoidica dermis disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006585 MONDO:0002406 True neurodermatitis dermatitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0006586 MONDO:0002406 True neurotic excoriation dermatitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0006589 MONDO:0005480 True occupational dermatitis contact dermatitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0006590 MONDO:0006566 True palmoplantar keratosis keratosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0006591 MONDO:0002051 True panniculitis integumentary system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0006592 MONDO:0005083 True parapsoriasis psoriasis UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0006593 MONDO:0006574 True pelvic lipomatosis lipomatosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0006594 MONDO:0019337 True pemphigus autoimmune bullous skin disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0006596 MONDO:0006525 True photoallergic dermatitis allergic contact dermatitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0006598 MONDO:0006564 True phototoxic dermatitis irritant dermatitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0006599 MONDO:0005492 True physical urticaria urticaria UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0006601 MONDO:0002406 True pityriasis rosea dermatitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0006602 MONDO:0006566 True porokeratosis keratosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0006602 MONDO:0019268 True porokeratosis epidermal disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006603 MONDO:0005093 True reactive cutaneous fibrous lesion skin disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0006604 MONDO:0005093 True rosacea skin disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0006605 MONDO:0005093 True scalp dermatosis skin disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0006607 MONDO:0005093 True sebaceous gland disorder skin disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0006608 MONDO:0002406 True seborrheic dermatitis dermatitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0006609 MONDO:0006608 True seborrheic infantile dermatitis seborrheic dermatitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0006610 MONDO:0005093 True skin atrophy skin disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0006611 MONDO:0005093 True skin sarcoidosis skin disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0006611 MONDO:0019338 True skin sarcoidosis sarcoidosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0006612 MONDO:0006574 True steroid lipomatosis lipomatosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0006614 MONDO:0019337 True subcorneal pustular dermatosis autoimmune bullous skin disease UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0006615 MONDO:0005093 True sweat gland disorder skin disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0006616 MONDO:0006525 True toxicodendron dermatitis allergic contact dermatitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0006617 MONDO:0005093 True vesiculobullous skin disease skin disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0006618 MONDO:0006599 True vibratory urticaria physical urticaria UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0006619 MONDO:0006547 True viral exanthem exanthem UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0006621 MONDO:0006563 True vulvar inverted follicular keratosis inverted follicular keratosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0006621 MONDO:0006622 True vulvar inverted follicular keratosis vulvar seborrheic keratosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006577 MONDO:0001735 True maxillary sinus cholesteatoma paranasal sinus disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0006577 MONDO:0006530 True maxillary sinus cholesteatoma cholesteatoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0006578 MONDO:0006574 True mediastinal lipomatosis lipomatosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0006579 MONDO:0008420 True melanoacanthoma seborrheic keratosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0006582 MONDO:0005093 True mongolian spot skin disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0006585 MONDO:0002406 True neurodermatitis dermatitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0006590 MONDO:0006566 True palmoplantar keratosis keratosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0006593 MONDO:0006574 True pelvic lipomatosis lipomatosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0006601 MONDO:0002406 True pityriasis rosea dermatitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0006603 MONDO:0005093 True reactive cutaneous fibrous lesion skin disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0006604 MONDO:0005093 True rosacea skin disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0006608 MONDO:0002406 True seborrheic dermatitis dermatitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0006610 MONDO:0005093 True skin atrophy skin disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0006611 MONDO:0005093 True skin sarcoidosis skin disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0006611 MONDO:0019338 True skin sarcoidosis sarcoidosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0006612 MONDO:0006574 True steroid lipomatosis lipomatosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0006620 MONDO:0021396 True vulva fibroepithelial polyp polyp of vulva UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006620 MONDO:0060765 True vulva fibroepithelial polyp fibroepithelial polyp UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006621 MONDO:0006563 True vulvar inverted follicular keratosis inverted follicular keratosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0006621 MONDO:0006622 True vulvar inverted follicular keratosis vulvar seborrheic keratosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0006622 MONDO:0002195 True vulvar seborrheic keratosis vulvar squamous neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0006622 MONDO:0008420 True vulvar seborrheic keratosis seborrheic keratosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0006624 MONDO:0006026 True overactive bladder urinary bladder disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0006626 MONDO:0005244 True diabetic neuropathy peripheral neuropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0006633 MONDO:0002155 True acalculous cholecystitis cholecystitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0006634 MONDO:0006373 True pituitary gland acidophil adenoma pituitary gland adenoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0006637 MONDO:0002492 True acute kidney tubular necrosis acute kidney failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0006638 MONDO:0002708 True acute retinal necrosis syndrome retinitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006622 MONDO:0008420 True vulvar seborrheic keratosis seborrheic keratosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0006626 MONDO:0005244 True diabetic neuropathy peripheral neuropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0006629 MONDO:0005178 True osteoarthritis, hip osteoarthritis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006633 MONDO:0002155 True acalculous cholecystitis cholecystitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0006637 MONDO:0002492 True acute kidney tubular necrosis acute kidney failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0006639 MONDO:0021312 True adrenal cortex carcinoma malignant tumor of adrenal cortex UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006641 MONDO:0004566 True afferent loop syndrome postgastrectomy syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0006643 MONDO:0002824 True alcoholic cardiomyopathy extrinsic cardiomyopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0006644 MONDO:0005155 True alcoholic liver cirrhosis cirrhosis of liver UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006644 MONDO:0005155 True alcoholic liver cirrhosis cirrhosis of liver UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0006644 MONDO:0043693 True alcoholic liver cirrhosis alcoholic liver diseases UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006645 MONDO:0001824 True alcoholic polyneuropathy polyneuropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0006646 MONDO:0003342 True angioleiomyoma benign perivascular tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0006647 MONDO:0002679 True anterior cerebral artery infarction cerebral infarction UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0006648 MONDO:0004001 True anterior compartment of tibia syndrome compartment syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0006649 MONDO:0002135 True anterior ischemic optic neuropathy optic nerve disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0006650 MONDO:0000473 True anterior spinal artery syndrome arterial disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0006650 MONDO:0002254 True anterior spinal artery syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0006651 MONDO:0020283 True anterior uveitis uveitis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0006652 MONDO:0005068 True anterolateral myocardial infarction myocardial infarction UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0006653 MONDO:0015926 True anthracosilicosis pneumoconiosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0006654 MONDO:0015926 True anthracosis pneumoconiosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0006655 MONDO:0003803 True aortic valve prolapse aortic valve disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0006656 MONDO:0005561 True aortitis aortic disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0006660 MONDO:0007004 True arthus reaction type III hypersensitivity disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0006663 MONDO:0005087 True perinatal asphyxia respiratory system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0006664 MONDO:0002078 True atrial septal defect heart septal defect UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0006668 MONDO:0003799 True bacterial conjunctivitis conjunctivitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0006668 MONDO:0005113 True bacterial conjunctivitis bacterial infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0006670 MONDO:0004796 True bacterial meningitis infectious meningitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0006670 MONDO:0005113 True bacterial meningitis bacterial infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0006672 MONDO:0002036 True balanitis penile disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0006673 MONDO:0004805 True pituitary gland basophil adenoma leukocyte disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0006673 MONDO:0006373 True pituitary gland basophil adenoma pituitary gland adenoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0006677 MONDO:0004868 True bile reflux biliary tract disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0006678 MONDO:0004828 True bladder calculus lower urinary tract calculus UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0006678 MONDO:0006026 True bladder calculus urinary bladder disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0006679 MONDO:0006026 True bladder neck obstruction urinary bladder disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006651 MONDO:0020283 True anterior uveitis uveitis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0006653 MONDO:0015926 True anthracosilicosis pneumoconiosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0006654 MONDO:0015926 True anthracosis pneumoconiosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0006656 MONDO:0018882 True aortitis vasculitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0006662 MONDO:0021108 True aseptic meningitis meningitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006665 MONDO:0005001 True chronic atrophic gastritis chronic gastritis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006666 MONDO:0003240 True atrophy of thyroid thyroid gland disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006668 MONDO:0003799 True bacterial conjunctivitis conjunctivitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0006668 MONDO:0005113 True bacterial conjunctivitis bacterial infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0006668 MONDO:0043885 True bacterial conjunctivitis eye infectious disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006670 MONDO:0004796 True bacterial meningitis infectious meningitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0006670 MONDO:0005113 True bacterial meningitis bacterial infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0006672 MONDO:0002036 True balanitis penile disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0006676 MONDO:0042976 True beriberi vitamin B deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006680 MONDO:0005073 True blue nevus melanocytic nevus UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006682 MONDO:0002122 True brachial plexus neuritis neuritis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0006682 MONDO:0006683 True brachial plexus neuritis brachial plexus neuropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0006684 MONDO:0005560 True brain edema brain disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0006686 MONDO:0005394 True brain stem infarction brain infarction UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0006687 MONDO:0006858 True burning mouth syndrome mouth disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0006688 MONDO:0015926 True byssinosis pneumoconiosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0006690 MONDO:0002907 True carotid artery thrombosis intracranial thrombosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0006690 MONDO:0005269 True carotid artery thrombosis carotid artery disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0006692 MONDO:0002562 True central pontine myelinolysis demyelinating disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0006693 MONDO:0006808 True cerebral arterial disease intracranial arterial disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0006694 MONDO:0005311 True cerebral atherosclerosis atherosclerosis UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0006696 MONDO:0002256 True cervix erosion cervix disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0006698 MONDO:0005281 True cholecystolithiasis gallbladder disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0006699 MONDO:0002886 True choledocholithiasis common bile duct disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0006700 MONDO:0002659 True choroid cancer uveal cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006683 MONDO:0024432 True brachial plexus neuropathy nerve plexus disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0006687 MONDO:0002254 True burning mouth syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0006687 MONDO:0006858 True burning mouth syndrome mouth disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0006692 MONDO:0002562 True central pontine myelinolysis demyelinating disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0006694 MONDO:0005311 True cerebral atherosclerosis atherosclerosis UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0006700 MONDO:0002659 True choroid cancer uveal cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0006700 MONDO:0021258 True choroid cancer choroid neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006701 MONDO:0006373 True chromophobe adenoma pituitary gland adenoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0006710 MONDO:0005384 True complex partial epilepsy focal epilepsy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0006711 MONDO:0005904 True constrictive pericarditis pericarditis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0006712 MONDO:0000942 True corneal edema corneal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0006713 MONDO:0003085 True corneal neovascularization keratitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0006715 MONDO:0005010 True coronary stenosis coronary artery disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0006716 MONDO:0000831 True coronary thrombosis thrombotic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0006716 MONDO:0005010 True coronary thrombosis coronary artery disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006711 MONDO:0005904 True constrictive pericarditis pericarditis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0006717 MONDO:0002300 True cutaneous fibrous histiocytoma dermis tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0006717 MONDO:0002989 True cutaneous fibrous histiocytoma benign fibrous histiocytoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0006721 MONDO:0006816 True de Quervain disease arthropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0006722 MONDO:0006999 True dental fluorosis tooth disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0006723 MONDO:0004842 True denture stomatitis stomatitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0006726 MONDO:0005728 True diaphragmatic eventration diaphragm disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0006727 MONDO:0005009 True diastolic heart failure congestive heart failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0006729 MONDO:0006987 True discrete subaortic stenosis subvalvular aortic stenosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0006730 MONDO:0001423 True drug psychosis drug-induced mental disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0006730 MONDO:0004630 True drug psychosis substance-induced psychosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006717 MONDO:0002989 True cutaneous fibrous histiocytoma benign fibrous histiocytoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0006722 MONDO:0006999 True dental fluorosis tooth disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0006731 MONDO:0005071 True drug-induced akathisia nervous system disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006733 MONDO:0001854 True dry eye syndrome lacrimal apparatus disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006733 MONDO:0002254 True dry eye syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0006734 MONDO:0021375 True benign duodenal neoplasm tumor of duodenum UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006734 MONDO:0021501 True benign duodenal neoplasm benign neoplasm of small intestine UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006735 MONDO:0002866 True duodenogastric reflux duodenal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0006738 MONDO:0021489 True eccrine acrospiroma benign neoplasm of sweat gland UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006739 MONDO:0004989 True Ehrlich tumor carcinoma breast carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0006740 MONDO:0003381 True empty sella syndrome pituitary gland disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0006741 MONDO:0005560 True encephalomalacia brain disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0006742 MONDO:0006873 True endemic goiter nutritional deficiency disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0006744 MONDO:0004900 True endolymphatic hydrops peripheral vertigo UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0006745 MONDO:0003311 True endometrioid stromal sarcoma endometrial stromal tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006740 MONDO:0002254 True empty sella syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0006741 MONDO:0005560 True encephalomalacia brain disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0006742 MONDO:0005397 True endemic goiter goiter UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0006745 MONDO:0005089 True endometrioid stromal sarcoma sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0006745 MONDO:0011962 True endometrioid stromal sarcoma endometrial cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0006746 MONDO:0005201 True endomyocardial fibrosis restrictive cardiomyopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0006749 MONDO:0005105 True mixed epithelioid and spindle cell melanoma melanoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006754 MONDO:0003749 True esophageal diverticulosis esophageal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0006755 MONDO:0003240 True euthyroid sick syndrome thyroid gland disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0006757 MONDO:0001751 True extrahepatic cholestasis cholestasis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0006759 MONDO:0001397 True femoral neuropathy mononeuropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0006760 MONDO:0001245 True fetal erythroblastosis microcytic anemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0006764 MONDO:0002041 True fungal meningitis fungal infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0006764 MONDO:0004796 True fungal meningitis infectious meningitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0006766 MONDO:0000665 True gait apraxia apraxia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0006767 MONDO:0001574 True gastric antral vascular ectasia capillary disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0006769 MONDO:0001318 True gastroparesis functional gastric disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0006770 MONDO:0005674 True giant cell reparative granuloma bone giant cell tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0006771 MONDO:0001165 True glossitis tongue disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0006777 MONDO:0001165 True hairy tongue tongue disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006755 MONDO:0002254 True euthyroid sick syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0006755 MONDO:0003240 True euthyroid sick syndrome thyroid gland disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0006767 MONDO:0021658 True gastric antral vascular ectasia vascular ectasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006777 MONDO:0001165 True hairy tongue tongue disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0006778 MONDO:0005073 True halo nevus melanocytic nevus UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006779 MONDO:0005267 True heart aneurysm heart disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0006782 MONDO:0002654 True hemometra uterine disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0006783 MONDO:0002076 True hemopneumothorax pneumothorax UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0006786 MONDO:0002405 True hepatic vein thrombosis hepatic vascular disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0006787 MONDO:0021489 True hidrocystoma benign neoplasm of sweat gland UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006788 MONDO:0000365 True hydrophthalmos primary congenital glaucoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0006790 MONDO:0002220 True hypercementosis tooth hard tissue disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0006792 MONDO:0002610 True hyperglobulinemic purpura purpura UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0006794 MONDO:0000605 True hypersensitivity vasculitis hypersensitivity reaction disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0006795 MONDO:0002332 True hypersplenism splenic disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0006796 MONDO:0006810 True hypertensive encephalopathy intracranial hypertension UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0006797 MONDO:0005283 True hypertensive retinopathy retinal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0006798 MONDO:0003916 True hypervitaminosis A overnutrition UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006790 MONDO:0002220 True hypercementosis tooth hard tissue disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0006794 MONDO:0018882 True hypersensitivity vasculitis vasculitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0006795 MONDO:0002332 True hypersplenism splenic disorder SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0006797 MONDO:0005283 True hypertensive retinopathy retinal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0006799 MONDO:0021211 True hypothalamic neoplasm brain neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006800 MONDO:0000665 True ideomotor apraxia apraxia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0006801 MONDO:0004251 True ileal neoplasm small intestine neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0006802 MONDO:0003381 True inappropriate ADH syndrome pituitary gland disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0006803 MONDO:0005068 True inferior myocardial infarction myocardial infarction UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0006804 MONDO:0004988 True inflammatory breast carcinoma breast adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006801 MONDO:0004251 True ileal neoplasm small intestine neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0006802 MONDO:0045072 True inappropriate ADH syndrome ectopic hormone secretion syndrome associated with neoplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006804 MONDO:0004988 True inflammatory breast carcinoma breast adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0006804 MONDO:0006256 True inflammatory breast carcinoma invasive breast carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006805 MONDO:0005010 True intermediate coronary syndrome coronary artery disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0006806 MONDO:0020283 True intermediate uveitis uveitis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0006807 MONDO:0005020 True intestinal perforation intestinal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0006808 MONDO:0011057 True intracranial arterial disease cerebrovascular disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0006809 MONDO:0011057 True intracranial embolism cerebrovascular disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0006810 MONDO:0005560 True intracranial hypertension brain disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0006811 MONDO:0005560 True intracranial hypotension brain disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0006812 MONDO:0011057 True intracranial vasospasm cerebrovascular disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006806 MONDO:0020283 True intermediate uveitis uveitis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0006813 MONDO:0005073 True intradermal nevus melanocytic nevus UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006814 MONDO:0002289 True iritis iris disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0006815 MONDO:0000956 True jejunal cancer small intestine cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0006817 MONDO:0002628 True juxtacortical osteosarcoma peripheral osteosarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0006820 MONDO:0005240 True kidney cortex necrosis kidney disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0006821 MONDO:0005240 True kidney papillary necrosis kidney disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0006825 MONDO:0005429 True kuru prion disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0006825 MONDO:0018926 True kuru human prion disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006826 MONDO:0001371 True kwashiorkor protein-energy malnutrition UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0006827 MONDO:0006686 True lateral medullary syndrome brain stem infarction UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0006828 MONDO:0002436 True nasal cavity and paranasal sinus lethal midline granuloma nasal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0006830 MONDO:0002036 True leukoplakia of penis penile disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0006831 MONDO:0004805 True leukostasis leukocyte disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0006833 MONDO:0005397 True lingual goiter goiter UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0006834 MONDO:0005515 True lip cancer oral cavity cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006817 MONDO:0002628 True juxtacortical osteosarcoma peripheral osteosarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0006827 MONDO:0002254 True lateral medullary syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0006830 MONDO:0043243 True leukoplakia of penis leukoplakia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006834 MONDO:0005627 True lip cancer head and neck cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0006834 MONDO:0021249 True lip cancer lip neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006836 MONDO:0006670 True Listeria meningitis bacterial meningitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0006837 MONDO:0005338 True low tension glaucoma open-angle glaucoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0006839 MONDO:0006664 True Lutembacher syndrome atrial septal defect UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006835 MONDO:0002462 True lipoid nephrosis glomerulonephritis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0006840 MONDO:0021658 True lymphangiectasis vascular ectasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006841 MONDO:0002013 True lymphangioendothelioma lymphangioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006842 MONDO:0006359 True lymphangiomyoma neoplasm with perivascular epithelioid cell differentiation UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006843 MONDO:0005283 True macular holes retinal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0006846 MONDO:0005044 True malignant hypertension hypertensive disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0006848 MONDO:0001371 True marasmus protein-energy malnutrition UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0006849 MONDO:0002657 True mastitis breast disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0006850 MONDO:0005289 True maxillary sinus neoplasm paranasal sinus neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006843 MONDO:0005283 True macular holes retinal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0006849 MONDO:0002657 True mastitis breast disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0006850 MONDO:0005289 True maxillary sinus neoplasm paranasal sinus neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0006853 MONDO:0006974 True mesenchymal chondrosarcoma small cell sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0006853 MONDO:0008977 True mesenchymal chondrosarcoma chondrosarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0006854 MONDO:0005070 True mesenchymoma neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0006855 MONDO:0005294 True mesenteric vascular occlusion peripheral vascular disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006853 MONDO:0008977 True mesenchymal chondrosarcoma chondrosarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0006854 MONDO:0005070 True mesenchymoma neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0006856 MONDO:0005070 True mesothelial neoplasm neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006857 MONDO:0002679 True middle cerebral artery infarction cerebral infarction UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0006859 MONDO:0002369 True mucinous cystadenoma cystadenoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006859 MONDO:0024338 True mucinous cystadenoma mucinous neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006861 MONDO:0015667 True myeloid sarcoma acute myeloid leukemia by FAB classification UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006862 MONDO:0005336 True myofascial pain syndrome myopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0006863 MONDO:0018078 True myxosarcoma soft tissue sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006864 MONDO:0001142 True necrotizing sialometaplasia salivary gland disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0006865 MONDO:0002508 True necrotizing ulcerative gingivitis gingivitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0006866 MONDO:0009688 True neonatal myasthenia gravis myasthenia gravis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0006868 MONDO:0005020 True neurogenic bowel intestinal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0006869 MONDO:0005397 True nodular goiter goiter UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0006871 MONDO:0005207 True non-gestational choriocarcinoma choriocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0006873 MONDO:0005137 True nutritional deficiency disease nutritional disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0006874 MONDO:0001751 True obstructive jaundice cholestasis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0006875 MONDO:0005328 True ocular hypertension eye disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0006877 MONDO:0005558 True oophoritis ovarian disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0006879 MONDO:0005885 True optic papillitis optic neuritis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0006880 MONDO:0006858 True oral leukoedema mouth disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0006881 MONDO:0001230 True orbital cellulitis acute orbital inflammation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0006882 MONDO:0002329 True orchitis testicular disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0006883 MONDO:0008903 True malignant superior sulcus neoplasm lung cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006865 MONDO:0002508 True necrotizing ulcerative gingivitis gingivitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0006869 MONDO:0005397 True nodular goiter goiter UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0006873 MONDO:0005137 True nutritional deficiency disease nutritional disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0006881 MONDO:0005230 True orbital cellulitis cellulitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0006882 MONDO:0002329 True orchitis testicular disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0006883 MONDO:0008903 True malignant superior sulcus neoplasm lung cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0006883 MONDO:0024813 True malignant superior sulcus neoplasm pulmonary sulcus neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006884 MONDO:0004863 True panophthalmitis purulent endophthalmitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0006886 MONDO:0005075 True thyroid gland papillary and follicular carcinoma thyroid gland papillary carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0006887 MONDO:0000922 True parametritis pelvic inflammatory disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0006889 MONDO:0006904 True paraphimosis phimosis UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0006890 MONDO:0004972 True parathyroid gland adenoma adenoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0006890 MONDO:0021463 True parathyroid gland adenoma benign neoplasm of parathyroid gland UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006888 MONDO:0001824 True paraneoplastic polyneuropathy polyneuropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0006890 MONDO:0004972 True parathyroid gland adenoma adenoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0006890 MONDO:0021463 True parathyroid gland adenoma benign neoplasm of parathyroid gland UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0006890 MONDO:0036976 True parathyroid gland adenoma benign epithelial neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006891 MONDO:0005384 True partial motor epilepsy focal epilepsy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0006892 MONDO:0005384 True partial sensory epilepsy focal epilepsy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0006894 MONDO:0006816 True patellofemoral pain syndrome arthropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0006895 MONDO:0002036 True penile neoplasm penile disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006895 MONDO:0002036 True penile neoplasm penile disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0006895 MONDO:0024582 True penile neoplasm male reproductive system neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006896 MONDO:0001409 True peptic esophagitis esophagitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0006897 MONDO:0004508 True periapical granuloma periapical periodontitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0006898 MONDO:0002471 True periarthritis bursitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0006899 MONDO:0002021 True pericoronitis gingival disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0006900 MONDO:0005240 True perinephritis kidney disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0006901 MONDO:0005070 True peritoneal neoplasm neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006903 MONDO:0003620 True peroneal nerve paralysis peripheral nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0006904 MONDO:0002036 True phimosis penile disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006903 MONDO:0003620 True peroneal nerve paralysis peripheral nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0006904 MONDO:0002036 True phimosis penile disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0006905 MONDO:0005073 True pigmented spindle cell nevus melanocytic nevus UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006907 MONDO:0002093 True pilar sheath acanthoma acanthoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0006908 MONDO:0001259 True pituitary apoplexy pituitary gland infarction UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0006908 MONDO:0019832 True pituitary apoplexy acquired pituitary hormone deficiency UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006912 MONDO:0005020 True pneumatosis cystoides intestinalis intestinal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0006916 MONDO:0004868 True postcholecystectomy syndrome biliary tract disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0006917 MONDO:0002679 True posterior cerebral artery infarction cerebral infarction UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0006918 MONDO:0020283 True posterior uveitis uveitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0006920 MONDO:0002908 True prediabetes syndrome glucose metabolism disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0006931 MONDO:0005275 True pulmonary coin lesion lung disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0006933 MONDO:0005275 True pulmonary plasma cell granuloma lung disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0006935 MONDO:0006936 True pulmonary subvalvular stenosis pulmonary valve stenosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0006936 MONDO:0003628 True pulmonary valve stenosis pulmonary valve disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0006937 MONDO:0003394 True pulpitis dental pulp disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0006939 MONDO:0006938 True pyelonephritis pyelitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0006940 MONDO:0001459 True radial nerve lesion radial neuropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0006945 MONDO:0002286 True renal artery obstruction renal artery disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0006947 MONDO:0001105 True renovascular hypertension renal hypertension UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0006948 MONDO:0002089 True retinal artery occlusion retinal vascular occlusion UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0006949 MONDO:0002175 True retinal drusen degeneration of macula and posterior pole UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0006950 MONDO:0002311 True retinal vasculitis retinal vascular disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0006950 MONDO:0018882 True retinal vasculitis vasculitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0006951 MONDO:0002089 True retinal vein occlusion retinal vascular occlusion UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0006952 MONDO:0005283 True retinopathy of prematurity retinal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0006953 MONDO:0002901 True Rh isoimmunization blood group incompatibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0006955 MONDO:0005267 True rheumatic heart disease heart disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0006960 MONDO:0001397 True sciatic neuropathy mononeuropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0006961 MONDO:0005429 True scrapie prion disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006907 MONDO:0002093 True pilar sheath acanthoma acanthoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0006920 MONDO:0002908 True prediabetes syndrome glucose metabolism disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0006926 MONDO:0005113 True haemophilus infectious disease bacterial infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006930 MONDO:0003569 True pseudobulbar palsy cranial nerve neuropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0006932 MONDO:0001208 True pulmonary edema acute respiratory failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006939 MONDO:0005247 True pyelonephritis bacterial urinary tract infection UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006941 MONDO:0005113 True rat-bite fever bacterial infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006948 MONDO:0002089 True retinal artery occlusion retinal vascular occlusion UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0006951 MONDO:0002089 True retinal vein occlusion retinal vascular occlusion UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0006952 MONDO:0005283 True retinopathy of prematurity retinal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0006955 MONDO:0005267 True rheumatic heart disease heart disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0006956 MONDO:0005113 True Rickettsiosis bacterial infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006962 MONDO:0004970 True sebaceous adenocarcinoma adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0006962 MONDO:0006973 True sebaceous adenocarcinoma skin appendage carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006962 MONDO:0037735 True sebaceous adenocarcinoma sebaceous gland cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006963 MONDO:0002297 True sebaceous gland neoplasm epidermal appendage tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0006964 MONDO:0001741 True secondary hyperparathyroidism hyperparathyroidism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0006965 MONDO:0006816 True secondary hypertrophic osteoarthropathy arthropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0006966 MONDO:0005559 True secondary Parkinson disease neurodegenerative disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0006968 MONDO:0006816 True shoulder impingement syndrome arthropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0006969 MONDO:0001142 True sialadenitis salivary gland disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0006970 MONDO:0001142 True sialolithiasis salivary gland disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0006972 MONDO:0005275 True silo filler disease lung disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006964 MONDO:0001741 True secondary hyperparathyroidism hyperparathyroidism UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0006969 MONDO:0001142 True sialadenitis salivary gland disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0006973 MONDO:0002297 True skin appendage carcinoma epidermal appendage tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006973 MONDO:0002656 True skin appendage carcinoma skin carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006974 MONDO:0005089 True small cell sarcoma sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0006975 MONDO:0021545 True smooth muscle tumor myomatous neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006976 MONDO:0019954 True somatostatinoma pancreatic neuroendocrine tumor UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006977 MONDO:0003150 True spermatocele male reproductive system disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0006978 MONDO:0002332 True splenic infarction splenic disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0006980 MONDO:0002372 True struma ovarii ovarian monodermal and highly specialized teratoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0006981 MONDO:0000565 True subacute bacterial endocarditis infective endocarditis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0006983 MONDO:0002254 True subclavian steal syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0006986 MONDO:0005397 True substernal goiter goiter UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0006987 MONDO:0042981 True subvalvular aortic stenosis aortic valve stenosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0006989 MONDO:0004508 True suppurative periapical periodontitis periapical periodontitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0006990 MONDO:0020283 True suppurative uveitis uveitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0006993 MONDO:0005009 True systolic heart failure congestive heart failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0006994 MONDO:0006997 True tarsal tunnel syndrome tibial neuropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0006995 MONDO:0002545 True tethered spinal cord syndrome spinal cord disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0006997 MONDO:0001397 True tibial neuropathy mononeuropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006977 MONDO:0003150 True spermatocele male reproductive system disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0006978 MONDO:0002332 True splenic infarction splenic disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0006980 MONDO:0002372 True struma ovarii ovarian monodermal and highly specialized teratoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0006983 MONDO:0002254 True subclavian steal syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0006994 MONDO:0002254 True tarsal tunnel syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0006995 MONDO:0002254 True tethered spinal cord syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0006996 MONDO:0004425 True thyroid crisis hyperthyroidism UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0006998 MONDO:0021250 True tonsil cancer tonsil neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006999 MONDO:0006858 True tooth disorder mouth disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0007002 MONDO:0003569 True trochlear nerve disorder cranial nerve neuropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0007002 MONDO:0003620 True trochlear nerve disorder peripheral nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0007004 MONDO:0000605 True type III hypersensitivity disease hypersensitivity reaction disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0007006 MONDO:0001397 True ulnar neuropathy mononeuropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0007008 MONDO:0001106 True uremia kidney failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0007009 MONDO:0001926 True ureterolithiasis ureteral disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0007011 MONDO:0019338 True uveoparotid fever sarcoidosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0007012 MONDO:0018686 True variant Creutzfeldt-Jakob disease acquired Creutzfeldt-Jakob disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007013 MONDO:0005362 True vasculogenic impotence erectile dysfunction UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0007015 MONDO:0004796 True viral meningitis infectious meningitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0007017 MONDO:0004860 True vitreous detachment vitreous disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0007018 MONDO:0002187 True vulvitis vulvar disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0007020 MONDO:0005560 True Wernicke encephalopathy brain disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0007022 MONDO:0001110 True xanthogranulomatous pyelonephritis chronic pyelonephritis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0007027 MONDO:0013209 True non-alcoholic steatohepatitis non-alcoholic fatty liver disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0007029 MONDO:0000426 True branchio-oto-renal syndrome autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0007029 MONDO:0002254 True branchio-oto-renal syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0007029 MONDO:0015161 True branchio-oto-renal syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007030 MONDO:0000426 True autosomal dominant Aarskog syndrome autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0007030 MONDO:0021005 True autosomal dominant Aarskog syndrome faciodigitogenital syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0007032 MONDO:0002254 True prune belly syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0007032 MONDO:0018559 True prune belly syndrome fetal lower urinary tract obstruction UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007033 MONDO:0002782 True abducens nerve palsy cranial nerve palsy UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006999 MONDO:0006858 True tooth disorder mouth disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0007002 MONDO:0003569 True trochlear nerve disorder cranial nerve neuropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0007004 MONDO:0000605 True type III hypersensitivity disease hypersensitivity reaction disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0007009 MONDO:0001926 True ureterolithiasis ureteral disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0007015 MONDO:0004796 True viral meningitis infectious meningitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0007016 MONDO:0024298 True vitamin A deficiency vitamin deficiency disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007023 MONDO:0005113 True Yersinia infectious disease bacterial infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007027 MONDO:0002251 True metabolic dysfunction-associated steatohepatitis hepatitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0007027 MONDO:0013209 True metabolic dysfunction-associated steatohepatitis metabolic dysfunction-associated steatotic liver disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0007029 MONDO:0002254 True branchio-oto-renal syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0007032 MONDO:0002254 True prune belly syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0007033 MONDO:0002782 True abducens nerve palsy cranial nerve palsy UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0007033 MONDO:0020594 True abducens nerve palsy abducens nerve disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007034 MONDO:0018234 True Adams-Oliver syndrome dysostosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0007034 MONDO:0019054 True Adams-Oliver syndrome congenital limb malformation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007036 MONDO:0002254 True Achard syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0007037 MONDO:0005516 True Achondroplasia osteochondrodysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0007037 MONDO:0019685 True Achondroplasia FGFR3-related chondrodysplasia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007042 MONDO:0019796 True Saethre-Chotzen syndrome acrocephalosyndactyly UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0007035 MONDO:0002406 True acanthosis nigricans dermatitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0007036 MONDO:0002254 True Achard syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0007039 MONDO:0021061 True neurofibromatosis type 2 neurofibromatosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0007041 MONDO:0019796 True Apert syndrome acrocephalosyndactyly UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007042 MONDO:0019796 True Saethre-Chotzen syndrome acrocephalosyndactyly UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0007044 MONDO:0019797 True Acrodysostosis 1 with or without hormone resistance acrodysostosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0007045 MONDO:0015159 True acrofacial dysostosis, Catania type multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007045 MONDO:0018237 True acrofacial dysostosis, Catania type acrofacial dysostosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0007046 MONDO:0006566 True hereditary papulotranslucent acrokeratoderma keratosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0007047 MONDO:0017675 True punctate palmoplantar keratoderma type III punctate palmoplantar keratoderma UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0007048 MONDO:0006566 True acrokeratosis verruciformis keratosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0007052 MONDO:0017824 True growth hormone secreting pituitary adenoma 1 familial isolated pituitary adenoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0007053 MONDO:0100170 True restless legs syndrome, susceptibility to, 1 restless legs syndrome, susceptibility to UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0007055 MONDO:0019695 True Acromicric dysplasia acromelic dysplasia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007057 MONDO:0000426 True Acroosteolysis dominant type autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0007058 MONDO:0015929 True Acropectorovertebral dysplasia thoracic malformation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007059 MONDO:0015161 True acrorenal syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007060 MONDO:0004983 True spermatogenic failure 6 spermatogenic failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0007060 MONDO:0015746 True spermatogenic failure 6 male infertility due to globozoospermia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0007062 MONDO:0018234 True adactylia, unilateral dysostosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007062 MONDO:0019713 True adactylia, unilateral non-syndromic limb reduction defect UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007064 MONDO:0017855 True severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency T-B- severe combined immunodeficiency UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007064 MONDO:0019236 True severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency inborn disorder of purine metabolism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007064 MONDO:0031520 True severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency familial severe combined immunodeficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0007068 MONDO:0004736 True adenylosuccinate lyase deficiency inborn disorder of amino acid metabolism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0007068 MONDO:0019236 True adenylosuccinate lyase deficiency inborn disorder of purine metabolism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007070 MONDO:0006574 True adiposis dolorosa lipomatosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0007070 MONDO:0019296 True adiposis dolorosa subcutaneous tissue disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007072 MONDO:0000426 True ADULT syndrome autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0007072 MONDO:0018234 True ADULT syndrome dysostosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0007072 MONDO:0019054 True ADULT syndrome congenital limb malformation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007072 MONDO:0019287 True ADULT syndrome ectodermal dysplasia syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS -MONDO:0007073 MONDO:0017139 True Hypoglossia-hypodactyly syndrome oromandibular-limb hypogenesis syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007073 MONDO:0019054 True Hypoglossia-hypodactyly syndrome congenital limb malformation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007074 MONDO:0003900 True ainhum connective tissue disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0007077 MONDO:0019290 True Tietz syndrome hypopigmentation of the skin UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007078 MONDO:0019695 True pseudohypoparathyroidism type 1A acromelic dysplasia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007078 MONDO:0019992 True pseudohypoparathyroidism type 1A pseudohypoparathyroidism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0007080 MONDO:0016525 True glucocorticoid-remediable aldosteronism familial hyperaldosteronism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0007060 MONDO:0004983 True spermatogenic failure 6 spermatogenic failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0007080 MONDO:0016525 True glucocorticoid-remediable aldosteronism familial hyperaldosteronism UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0007082 MONDO:0000005 True alopecia areata 1 alopecia, isolated UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0007083 MONDO:0017666 True autosomal dominant palmoplantar keratoderma and congenital alopecia diffuse palmoplantar keratoderma UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007083 MONDO:0019287 True autosomal dominant palmoplantar keratoderma and congenital alopecia ectodermal dysplasia syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED MONDO:0007084 MONDO:0000005 True familial focal alopecia alopecia, isolated UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0007086 MONDO:0000426 True autosomal dominant Alport syndrome autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0007086 MONDO:0018965 True autosomal dominant Alport syndrome Alport syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0007086 MONDO:0018965 True autosomal dominant Alport syndrome Alport syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS MONDO:0007087 MONDO:0016241 True alternating hemiplegia of childhood 1 alternating hemiplegia of childhood UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0007092 MONDO:0000426 True amelogenesis imperfecta type 1B autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0007093 MONDO:0019507 True hypomaturation-hypoplastic amelogenesis imperfecta with taurodontism amelogenesis imperfecta UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0007095 MONDO:0019287 True ameloonychohypohidrotic syndrome ectodermal dysplasia syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING -MONDO:0007097 MONDO:0018102 True Finnish type amyloidosis corneal dystrophy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0007097 MONDO:0018634 True Finnish type amyloidosis hereditary amyloidosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007097 MONDO:0020127 True Finnish type amyloidosis hereditary peripheral neuropathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007098 MONDO:0005620 True ACys amyloidosis cerebral amyloid angiopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0007099 MONDO:0018634 True familial visceral amyloidosis hereditary amyloidosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007100 MONDO:0018634 True familial amyloid neuropathy hereditary amyloidosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007100 MONDO:0020127 True familial amyloid neuropathy hereditary peripheral neuropathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007101 MONDO:0015301 True familial primary localized cutaneous amyloidosis primary cutaneous amyloidosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007093 MONDO:0019507 True hypomaturation-hypoplastic amelogenesis imperfecta with taurodontism amelogenesis imperfecta UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS MONDO:0007103 MONDO:0005144 True amyotrophic lateral sclerosis type 1 familial amyotrophic lateral sclerosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0007105 MONDO:0005144 True frontotemporal dementia and/or amyotrophic lateral sclerosis 1 familial amyotrophic lateral sclerosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0007105 MONDO:0017161 True frontotemporal dementia and/or amyotrophic lateral sclerosis 1 frontotemporal dementia with motor neuron disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0007108 MONDO:0000405 True anal canal carcinoma anal canal cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0007108 MONDO:0003199 True anal canal carcinoma anal carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0007108 MONDO:0018516 True anal canal carcinoma epithelial tumor of anal canal UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007109 MONDO:0019403 True congenital dyserythropoietic anemia type 3 congenital dyserythropoietic anemia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0007110 MONDO:0015253 True Diamond-Blackfan anemia 1 Diamond-Blackfan anemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0007111 MONDO:0016483 True aneurysm, intracranial berry type 1 intracranial berry aneurysm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0007112 MONDO:0019512 True interventricular septum aneurysm congenital heart malformation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007113 MONDO:0002254 True Angelman syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0007114 MONDO:0019695 True Angel-shaped phalango-epiphyseal dysplasia acromelic dysplasia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007116 MONDO:0019755 True hereditary neurocutaneous angioma developmental defect during embryogenesis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007118 MONDO:0006527 True isolated anhidrosis with normal sweat glands anhidrosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0007118 MONDO:0019296 True isolated anhidrosis with normal sweat glands subcutaneous tissue disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007118 MONDO:0021154 True isolated anhidrosis with normal sweat glands dermis disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007124 MONDO:0018234 True ankyloblepharon-ectodermal defects-cleft lip/palate syndrome dysostosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0007124 MONDO:0019054 True ankyloblepharon-ectodermal defects-cleft lip/palate syndrome congenital limb malformation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007124 MONDO:0019287 True ankyloblepharon-ectodermal defects-cleft lip/palate syndrome ectodermal dysplasia syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED -MONDO:0007125 MONDO:0001165 True ankyloglossia tongue disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0007109 MONDO:0019403 True congenital dyserythropoietic anemia type 3 congenital dyserythropoietic anemia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0007110 MONDO:0015253 True Diamond-Blackfan anemia 1 Diamond-Blackfan anemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0007111 MONDO:0016483 True aneurysm, intracranial berry type 1 intracranial berry aneurysm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0007113 MONDO:0002254 True Angelman syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0007126 MONDO:0024512 True spondyloarthropathy, susceptibility to, 1 spondyloarthropathy, susceptibility to UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0007127 MONDO:0002185 True diffuse idiopathic skeletal hyperostosis hyperostosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0007129 MONDO:0005486 True tooth agenesis, selective, 1 tooth agenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0007130 MONDO:0017705 True congenital total pulmonary venous return anomaly congenital pulmonary venous return anomaly UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007131 MONDO:0019287 True anonychia with flexural pigmentation ectodermal dysplasia syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING -MONDO:0007134 MONDO:0018234 True Cooks syndrome dysostosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007134 MONDO:0019054 True Cooks syndrome congenital limb malformation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007137 MONDO:0018751 True isolated congenital anosmia hereditary otorhinolaryngologic disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007138 MONDO:0019503 True anterior segment dysgenesis 1 anterior segment dysgenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0007142 MONDO:0000426 True Townes-Brocks syndrome autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0007142 MONDO:0002254 True Townes-Brocks syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0007142 MONDO:0015161 True Townes-Brocks syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007142 MONDO:0019054 True Townes-Brocks syndrome congenital limb malformation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007143 MONDO:0015159 True aortic arch anomaly-facial dysmorphism-intellectual disability syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007145 MONDO:0019294 True aplasia cutis congenita mixed dermis disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007147 MONDO:0005296 True obstructive sleep apnea syndrome sleep apnea syndrome SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0007150 MONDO:0001515 True arcus senilis corneal degeneration UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0007138 MONDO:0019503 True anterior segment dysgenesis 1 anterior segment dysgenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0007142 MONDO:0002254 True Townes-Brocks syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0007147 MONDO:0002254 True obstructive sleep apnea syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0007147 MONDO:0005296 True obstructive sleep apnea syndrome sleep apnea syndrome SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0007152 MONDO:0016342 True arrhythmogenic right ventricular dysplasia 1 familial isolated arrhythmogenic right ventricular dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0007157 MONDO:0015240 True arthrogryposis, distal, type 1A digitotalar dysmorphism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0007158 MONDO:0019942 True arthrogryposis- oculomotor limitation-electroretinal anomalies syndrome distal arthrogryposis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0007159 MONDO:0019942 True arthrogryposis-like hand anomaly-sensorineural deafness syndrome distal arthrogryposis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0007160 MONDO:0019354 True Stickler syndrome type 1 Stickler syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0007160 MONDO:0022800 True Stickler syndrome type 1 type 2 collagenopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007161 MONDO:0004983 True spermatogenic failure 2 spermatogenic failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0007163 MONDO:0016227 True episodic ataxia type 2 hereditary episodic ataxia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0007164 MONDO:0017846 True spastic ataxia 1 autosomal dominant spastic ataxia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007165 MONDO:0017846 True spastic ataxia 7 autosomal dominant spastic ataxia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007154 MONDO:0001256 True arteriovenous malformations of the brain arteriovenous hemangioma/malformation UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0007158 MONDO:0019942 True arthrogryposis- oculomotor limitation-electroretinal anomalies syndrome distal arthrogryposis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0007159 MONDO:0019942 True arthrogryposis-like hand anomaly-sensorineural deafness syndrome distal arthrogryposis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0007160 MONDO:0019354 True Stickler syndrome type 1 Stickler syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0007161 MONDO:0004983 True spermatogenic failure 2 spermatogenic failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0007163 MONDO:0016227 True episodic ataxia type 2 hereditary episodic ataxia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS MONDO:0007167 MONDO:0000389 True atelosteogenesis type I atelosteogenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0007167 MONDO:0019690 True atelosteogenesis type I filamin-related bone disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007168 MONDO:0000389 True atelosteogenesis type III atelosteogenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0007168 MONDO:0019690 True atelosteogenesis type III filamin-related bone disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007172 MONDO:0006664 True atrial septal defect 1 atrial septal defect UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0007173 MONDO:0006664 True atrial septal defect 7 atrial septal defect UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0007174 MONDO:0002254 True Lown-Ganong-Levine syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0007179 MONDO:0005046 True autoimmune disease immune system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0007182 MONDO:0015548 True Machado-Joseph disease Huntington disease-like syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007182 MONDO:0019792 True Machado-Joseph disease autosomal dominant cerebellar ataxia type I UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007172 MONDO:0006664 True atrial septal defect 1 atrial septal defect UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0007173 MONDO:0006664 True atrial septal defect 7 atrial septal defect UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0007179 MONDO:0005046 True autoimmune disease immune system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0007184 MONDO:0000005 True alopecia, androgenetic, 1 alopecia, isolated UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0007187 MONDO:0000426 True nevoid basal cell carcinoma syndrome autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0007187 MONDO:0015356 True nevoid basal cell carcinoma syndrome hereditary neoplastic syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007187 MONDO:0019755 True nevoid basal cell carcinoma syndrome developmental defect during embryogenesis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007193 MONDO:0005388 True primary biliary cholangitis 1 primary biliary cholangitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0007194 MONDO:0003803 True familial bicuspid aortic valve aortic valve disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0007197 MONDO:0006026 True bladder diverticulum urinary bladder disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0007198 MONDO:0015161 True Ascher syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007200 MONDO:0015159 True blepharonasofacial malformation syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007201 MONDO:0008537 True blepharophimosis, ptosis, and epicanthus inversus syndrome telecanthus UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING -MONDO:0007203 MONDO:0015356 True blue rubber bleb nevus hereditary neoplastic syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007203 MONDO:0019293 True blue rubber bleb nevus skin vascular disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007186 MONDO:0003749 True gastroesophageal reflux disease esophageal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0007187 MONDO:0015356 True nevoid basal cell carcinoma syndrome hereditary neoplastic syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007187 MONDO:0042983 True nevoid basal cell carcinoma syndrome neurocutaneous syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007191 MONDO:0002254 True Behcet disease syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0007193 MONDO:0005388 True primary biliary cholangitis 1 primary biliary cholangitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS MONDO:0007204 MONDO:0016085 True Cole-Carpenter syndrome 1 Cole-Carpenter syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0007205 MONDO:0018230 True diaphyseal medullary stenosis-bone malignancy syndrome skeletal dysplasia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007205 MONDO:0019060 True diaphyseal medullary stenosis-bone malignancy syndrome bone neoplasm UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007207 MONDO:0019287 True Böök syndrome ectodermal dysplasia syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING -MONDO:0007208 MONDO:0005516 True Boomerang dysplasia osteochondrodysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0007208 MONDO:0019690 True Boomerang dysplasia filamin-related bone disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007209 MONDO:0019698 True Weismann-Netter syndrome bent bone dysplasia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007211 MONDO:0002254 True brachydactyly-arterial hypertension syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0007211 MONDO:0018234 True brachydactyly-arterial hypertension syndrome dysostosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0007211 MONDO:0019054 True brachydactyly-arterial hypertension syndrome congenital limb malformation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007212 MONDO:0016432 True brachydactyly-long thumb syndrome heart-hand syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007213 MONDO:0021004 True Ballard syndrome brachydactyly UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0007214 MONDO:0019054 True brachydactyly-preaxial hallux varus syndrome congenital limb malformation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007215 MONDO:0021004 True brachydactyly type A1 brachydactyly UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0007216 MONDO:0021004 True brachydactyly type A2 brachydactyly UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0007217 MONDO:0021004 True brachydactyly type A3 brachydactyly UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0007218 MONDO:0021004 True brachydactyly type A4 brachydactyly UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0007219 MONDO:0019696 True Osebold-Remondini syndrome acromesomelic dysplasia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0007219 MONDO:0021004 True Osebold-Remondini syndrome brachydactyly UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0007220 MONDO:0019676 True brachydactyly type B1 brachydactyly type B UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007221 MONDO:0021004 True brachydactyly type C brachydactyly UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0007222 MONDO:0021004 True brachydactyly type D brachydactyly UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0007225 MONDO:0018234 True fibular aplasia-ectrodactyly syndrome dysostosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007225 MONDO:0019054 True fibular aplasia-ectrodactyly syndrome congenital limb malformation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007226 MONDO:0015159 True brachydactyly-nystagmus-cerebellar ataxia syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007230 MONDO:0019054 True Brachymorphism-onychodysplasia-dysphalangism syndrome congenital limb malformation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007231 MONDO:0015161 True brachytelephalangy-dysmorphism-Kallmann syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007231 MONDO:0015770 True brachytelephalangy-dysmorphism-Kallmann syndrome congenital hypogonadotropic hypogonadism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007231 MONDO:0018234 True brachytelephalangy-dysmorphism-Kallmann syndrome dysostosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007231 MONDO:0019054 True brachytelephalangy-dysmorphism-Kallmann syndrome congenital limb malformation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007232 MONDO:0015262 True autosomal dominant brachyolmia brachyolmia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007232 MONDO:0018240 True autosomal dominant brachyolmia TRPV4-related bone disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007233 MONDO:0015476 True second branchial cleft anomaly cysts and fistulae of the face and oral cavity UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007235 MONDO:0000426 True branchiooculofacial syndrome autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0007235 MONDO:0015161 True branchiooculofacial syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007236 MONDO:0007029 True branchiootorenal syndrome 1 branchio-oto-renal syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0007239 MONDO:0017266 True epidermolytic ichthyosis keratinopathic ichthyosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007240 MONDO:0019490 True progressive familial heart block, type 1A progressive familial heart block UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0007243 MONDO:0004949 True Burkitt lymphoma neoplasm of mature B-cells UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0007243 MONDO:0017343 True Burkitt lymphoma Epstein-Barr virus-associated malignant lymphoproliferative disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007243 MONDO:0017595 True Burkitt lymphoma aggressive B-cell non-Hodgkin lymphoma UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007244 MONDO:0002614 True Caffey disease bone inflammation disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0007244 MONDO:0019702 True Caffey disease neonatal osteosclerotic dysplasia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007245 MONDO:0019289 True cafe au lait spots, multiple hyperpigmentation of the skin UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007248 MONDO:0017672 True hereditary painful callosities focal palmoplantar keratoderma UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007251 MONDO:0005516 True campomelic dysplasia osteochondrodysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0007251 MONDO:0019698 True campomelic dysplasia bent bone dysplasia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007252 MONDO:0015161 True Gordon syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007252 MONDO:0019942 True Gordon syndrome distal arthrogryposis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0007254 MONDO:0003274 True breast cancer thoracic cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0007219 MONDO:0019696 True Osebold-Remondini syndrome acromesomelic dysplasia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0007240 MONDO:0007263 True progressive familial heart block, type 1A cardiac rhythm disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007240 MONDO:0019490 True progressive familial heart block, type 1A progressive familial heart block UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0007243 MONDO:0004949 True Burkitt lymphoma neoplasm of mature B-cells UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0007243 MONDO:0017595 True Burkitt lymphoma aggressive B-cell non-Hodgkin lymphoma UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007244 MONDO:0002185 True Caffey disease hyperostosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0007252 MONDO:0019942 True Gordon syndrome distal arthrogryposis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS MONDO:0007254 MONDO:0021100 True breast cancer breast neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007256 MONDO:0004970 True hepatocellular carcinoma adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0007256 MONDO:0018531 True hepatocellular carcinoma carcinoma of liver and intrahepatic biliary tract UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007256 MONDO:0018531 True hepatocellular carcinoma carcinoma of liver and intrahepatic biliary tract UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007257 MONDO:0015279 True candidiasis, familial, 1 chronic mucocutaneous candidiasis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0007259 MONDO:0015159 True craniofaciofrontodigital syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007265 MONDO:0015280 True cardiofaciocutaneous syndrome 1 cardiofaciocutaneous syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0007266 MONDO:0024573 True hypertrophic cardiomyopathy 2 familial hypertrophic cardiomyopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0007267 MONDO:0024573 True hypertrophic cardiomyopathy 3 familial hypertrophic cardiomyopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0007268 MONDO:0024573 True hypertrophic cardiomyopathy 4 familial hypertrophic cardiomyopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0007269 MONDO:0016333 True dilated cardiomyopathy 1A familial dilated cardiomyopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0007265 MONDO:0015280 True cardiofaciocutaneous syndrome 1 cardiofaciocutaneous syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0007266 MONDO:0024573 True hypertrophic cardiomyopathy 2 familial hypertrophic cardiomyopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0007267 MONDO:0024573 True hypertrophic cardiomyopathy 3 familial hypertrophic cardiomyopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0007268 MONDO:0024573 True hypertrophic cardiomyopathy 4 familial hypertrophic cardiomyopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0007269 MONDO:0016333 True dilated cardiomyopathy 1A familial dilated cardiomyopathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0007270 MONDO:0016340 True cardiomyopathy, familial restrictive, 1 familial restrictive cardiomyopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0007272 MONDO:0017758 True hereditary hypercarotenemia and vitamin A deficiency disorder of vitamin and non-protein cofactor absorption and transport UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007273 MONDO:0000448 True paragangliomas 4 paraganglioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0007275 MONDO:0003615 True carpal tunnel syndrome nerve compression syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0007277 MONDO:0015161 True cataract-aberrant oral frenula-growth delay syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007281 MONDO:0005129 True cataract 4 multiple types cataract UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0007282 MONDO:0005129 True cataract 29 cataract UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0007285 MONDO:0005129 True cataract 1 multiple types cataract UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0007293 MONDO:0017570 True leukocyte adhesion deficiency 1 leukocyte adhesion deficiency UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0007295 MONDO:0000414 True childhood epilepsy with centrotemporal spikes childhood electroclinical syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0007295 MONDO:0017704 True childhood epilepsy with centrotemporal spikes familial partial epilepsy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007296 MONDO:0019793 True spinocerebellar ataxia type 31 autosomal dominant cerebellar ataxia type III UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007297 MONDO:0005620 True ADan amyloidosis cerebral amyloid angiopathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0007297 MONDO:0018591 True ADan amyloidosis ITM2B amyloidosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007298 MONDO:0019792 True spinocerebellar ataxia type 29 autosomal dominant cerebellar ataxia type I UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007301 MONDO:0002254 True cerebrocostomandibular syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0007306 MONDO:0001029 True Klippel-Feil syndrome 1, autosomal dominant Klippel-Feil syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0007307 MONDO:0019011 True Charcot-Marie-Tooth disease type 1B Charcot-Marie-Tooth disease type 1 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0007308 MONDO:0018993 True Charcot-Marie-Tooth disease type 2A1 Charcot-Marie-Tooth disease type 2 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0007309 MONDO:0016950 True Charcot-Marie-Tooth disease type 1A partial duplication of the short arm of chromosome 17 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007309 MONDO:0019011 True Charcot-Marie-Tooth disease type 1A Charcot-Marie-Tooth disease type 1 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0007311 MONDO:0019011 True Charcot-Marie-Tooth disease type 1E Charcot-Marie-Tooth disease type 1 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0007315 MONDO:0000426 True cherubism autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0007315 MONDO:0015161 True cherubism multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007315 MONDO:0019751 True cherubism autoinflammatory syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007316 MONDO:0018075 True Chiari malformation type I neural tube defect UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007318 MONDO:0015161 True Alagille syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007321 MONDO:0000426 True autosomal dominant chondrodysplasia punctata autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0007321 MONDO:0002254 True autosomal dominant chondrodysplasia punctata syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0007327 MONDO:0018637 True chylomicronemia, familial, due to circulating inhibitor of lipoprotein lipase familial chylomicronemia syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0007330 MONDO:0018234 True congenital pseudoarthrosis of clavicle dysostosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007334 MONDO:0017435 True autosomal dominant popliteal pterygium syndrome popliteal pterygium syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007335 MONDO:0000358 True orofacial cleft 1 orofacial cleft UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0007336 MONDO:0016064 True isolated cleft palate cleft palate UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0007337 MONDO:0015161 True cleft palate-lateral synechia syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007338 MONDO:0016064 True cleft soft palate cleft palate UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0007339 MONDO:0000426 True blepharocheilodontic syndrome autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0007339 MONDO:0015161 True blepharocheilodontic syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007339 MONDO:0019287 True blepharocheilodontic syndrome ectodermal dysplasia syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS -MONDO:0007339 MONDO:0020161 True blepharocheilodontic syndrome congenital ectropion UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007340 MONDO:0005516 True cleidocranial dysplasia 1 osteochondrodysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0007340 MONDO:0018230 True cleidocranial dysplasia 1 skeletal dysplasia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007341 MONDO:0018230 True cleidorhizomelic syndrome skeletal dysplasia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007343 MONDO:0019284 True isolated congenital digital clubbing inherited isolated nail anomaly UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0007276 MONDO:0002254 True cat-eye syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007281 MONDO:0005129 True cataract 4 multiple types cataract UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0007282 MONDO:0005129 True cataract 29 cataract UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0007285 MONDO:0005129 True cataract 1 multiple types cataract UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0007293 MONDO:0017570 True leukocyte adhesion deficiency 1 leukocyte adhesion deficiency UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0007294 MONDO:0018943 True central core myopathy myofibrillar myopathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS +MONDO:0007306 MONDO:0001029 True Klippel-Feil syndrome 1, autosomal dominant Klippel-Feil syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0007315 MONDO:0015356 True cherubism hereditary neoplastic syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007318 MONDO:0002254 True Alagille syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0007329 MONDO:0005155 True cirrhosis, familial cirrhosis of liver UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007335 MONDO:0000358 True orofacial cleft 1 orofacial cleft UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0007340 MONDO:0002254 True cleidocranial dysplasia 1 syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0007345 MONDO:0021147 True aorta coarctation disorder of development or morphogenesis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007349 MONDO:0018768 True familial cold autoinflammatory syndrome 1 familial cold autoinflammatory syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0007352 MONDO:0000426 True renal coloboma syndrome autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0007352 MONDO:0002254 True renal coloboma syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0007354 MONDO:0001834 True coloboma of optic nerve visual pathway disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0007355 MONDO:0003847 True uveal coloboma-cleft lip and palate-intellectual disability hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0007355 MONDO:0015159 True uveal coloboma-cleft lip and palate-intellectual disability multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007356 MONDO:0000426 True Lynch syndrome 1 autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0007356 MONDO:0018630 True Lynch syndrome 1 hereditary nonpolyposis colon cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0007362 MONDO:0015993 True cone-rod dystrophy 2 cone-rod dystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0007363 MONDO:0017310 True congenital contractural arachnodactyly Marfan and Marfan-related disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007363 MONDO:0019942 True congenital contractural arachnodactyly distal arthrogryposis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0007349 MONDO:0018768 True familial cold autoinflammatory syndrome 1 familial cold autoinflammatory syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0007352 MONDO:0002254 True renal coloboma syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0007356 MONDO:0018630 True Lynch syndrome 1 hereditary nonpolyposis colon cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0007362 MONDO:0015993 True cone-rod dystrophy 2 cone-rod dystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0007363 MONDO:0008779 True congenital contractural arachnodactyly arthrogryposis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007363 MONDO:0019942 True congenital contractural arachnodactyly distal arthrogryposis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS MONDO:0007365 MONDO:0016027 True seizures, benign familial neonatal, 1 benign neonatal seizures UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0007366 MONDO:0016027 True seizures, benign familial neonatal, 2 benign neonatal seizures UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0007367 MONDO:0000032 True febrile seizures, familial, 1 febrile seizures, familial UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0007368 MONDO:0017762 True familial benign copper deficiency disorder of copper metabolism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007369 MONDO:0002520 True hereditary coproporphyria hepatic porphyria UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0007367 MONDO:0000032 True febrile seizures, familial, 1 febrile seizures, familial UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS MONDO:0007372 MONDO:0000733 True cornea plana 1, autosomal dominant cornea plana UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0007374 MONDO:0003847 True Schnyder corneal dystrophy hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0007374 MONDO:0020213 True Schnyder corneal dystrophy stromal corneal dystrophy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0007375 MONDO:0000763 True epithelial basement membrane dystrophy epithelial and subepithelial corneal dystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0007375 MONDO:0020212 True epithelial basement membrane dystrophy superficial corneal dystrophy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007376 MONDO:0020213 True fleck corneal dystrophy stromal corneal dystrophy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0007377 MONDO:0000764 True granular corneal dystrophy type I epithelial-stromal TGFBI dystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0007377 MONDO:0020213 True granular corneal dystrophy type I stromal corneal dystrophy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0007378 MONDO:0020364 True posterior polymorphous corneal dystrophy 1 posterior polymorphous corneal dystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0007379 MONDO:0000763 True Meesmann corneal dystrophy epithelial and subepithelial corneal dystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0007379 MONDO:0020212 True Meesmann corneal dystrophy superficial corneal dystrophy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007381 MONDO:0003847 True epithelial recurrent erosion dystrophy hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0007381 MONDO:0020212 True epithelial recurrent erosion dystrophy superficial corneal dystrophy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007382 MONDO:0015159 True Ramos-Arroyo syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007383 MONDO:0019287 True Stern-Lubinsky-Durrie syndrome ectodermal dysplasia syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING -MONDO:0007384 MONDO:0020127 True congenital trigeminal anesthesia hereditary peripheral neuropathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007387 MONDO:0016033 True Cornelia de Lange syndrome 1 Cornelia de Lange syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0007388 MONDO:0015929 True congenitally short costocoracoid ligament thoracic malformation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007389 MONDO:0000359 True spondylocostal dysostosis 5 spondylocostal dysostosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0007390 MONDO:0003847 True coumarin resistance hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0007395 MONDO:0003847 True craniofacial-deafness-hand syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0007395 MONDO:0015161 True craniofacial-deafness-hand syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007397 MONDO:0015465 True craniometaphyseal dysplasia, autosomal dominant craniometaphyseal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0007401 MONDO:0015704 True craniosynostosis-Dandy-Walker malformation-hydrocephalus syndrome familial scaphocephaly syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007401 MONDO:0020022 True craniosynostosis-Dandy-Walker malformation-hydrocephalus syndrome central nervous system malformation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007403 MONDO:0024237 True inherited Creutzfeldt-Jakob disease inherited neurodegenerative disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007404 MONDO:0002254 True Cri-du-chat syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0007404 MONDO:0016887 True Cri-du-chat syndrome partial deletion of the short arm of chromosome 5 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007405 MONDO:0015338 True Crouzon syndrome syndromic craniosynostosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007407 MONDO:0015491 True Cryoglobulinemic vasculitis immune complex mediated vasculitis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007409 MONDO:0015161 True cryptomicrotia-brachydactyly-excess fingertip arch syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007410 MONDO:0020153 True isolated cryptophthalmia cryptophthalmia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0007411 MONDO:0019571 True cutis laxa, autosomal dominant 1 autosomal dominant cutis laxa UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0007412 MONDO:0000426 True Beare-Stevenson cutis gyrata syndrome autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0007412 MONDO:0015161 True Beare-Stevenson cutis gyrata syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007412 MONDO:0015338 True Beare-Stevenson cutis gyrata syndrome syndromic craniosynostosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007413 MONDO:0015161 True Cyprus facial-neuromusculoskeletal syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007413 MONDO:0020120 True Cyprus facial-neuromusculoskeletal syndrome skeletal muscle disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007414 MONDO:0002013 True Gorham-Stout disease lymphangioma UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007378 MONDO:0020364 True posterior polymorphous corneal dystrophy 1 posterior polymorphous corneal dystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0007387 MONDO:0016033 True Cornelia de Lange syndrome 1 Cornelia de Lange syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0007389 MONDO:0000359 True spondylocostal dysostosis 5 spondylocostal dysostosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0007397 MONDO:0015465 True craniometaphyseal dysplasia, autosomal dominant craniometaphyseal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0007404 MONDO:0002254 True Cri-du-chat syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0007415 MONDO:0020811 True mitochondrial complex III deficiency nuclear type 1 mitochondrial complex III deficiency, nuclear type UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0007416 MONDO:0001085 True Balkan nephropathy interstitial nephritis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0007417 MONDO:0019268 True Darier disease epidermal disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007420 MONDO:0002254 True autosomal dominant deafness - onychodystrophy syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0007420 MONDO:0003847 True autosomal dominant deafness - onychodystrophy syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0007422 MONDO:0003847 True keratoderma hereditarium mutilans hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0007424 MONDO:0019587 True autosomal dominant nonsyndromic hearing loss 1 autosomal dominant nonsyndromic hearing loss UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0007428 MONDO:0015161 True deafness-craniofacial syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007434 MONDO:0003847 True primary failure of tooth eruption hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0007435 MONDO:0015548 True dentatorubral-pallidoluysian atrophy Huntington disease-like syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007435 MONDO:0019794 True dentatorubral-pallidoluysian atrophy autosomal dominant cerebellar ataxia type IV UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007436 MONDO:0015613 True dentin dysplasia type I dentin dysplasia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007437 MONDO:0015613 True dentin dysplasia type II dentin dysplasia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007441 MONDO:0018849 True dentinogenesis imperfecta type 2 dentinogenesis imperfecta UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007442 MONDO:0018849 True dentinogenesis imperfecta type 3 dentinogenesis imperfecta UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007445 MONDO:0017666 True dermatopathia pigmentosa reticularis diffuse palmoplantar keratoderma UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007445 MONDO:0019287 True dermatopathia pigmentosa reticularis ectodermal dysplasia syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED -MONDO:0007445 MONDO:0019289 True dermatopathia pigmentosa reticularis hyperpigmentation of the skin UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007446 MONDO:0002406 True dermatosis papulosa nigra dermatitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0007448 MONDO:0006599 True familial dermatographia physical urticaria UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0007449 MONDO:0019287 True dermo-odonto dysplasia ectodermal dysplasia syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING -MONDO:0007450 MONDO:0000426 True neurohypophyseal diabetes insipidus autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0007450 MONDO:0004782 True neurohypophyseal diabetes insipidus diabetes insipidus UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0007450 MONDO:0015790 True neurohypophyseal diabetes insipidus central diabetes insipidus UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0007451 MONDO:0016383 True diabetes insipidus, nephrogenic, autosomal nephrogenic diabetes insipidus UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0007452 MONDO:0018911 True maturity-onset diabetes of the young type 1 maturity-onset diabetes of the young UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED -MONDO:0007453 MONDO:0018911 True maturity-onset diabetes of the young type 2 maturity-onset diabetes of the young UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED -MONDO:0007461 MONDO:0015161 True short stature-valvular heart disease-characteristic facies syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007471 MONDO:0006949 True Doyne honeycomb retinal dystrophy retinal drusen UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0007472 MONDO:0006949 True basal laminar drusen retinal drusen UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0007477 MONDO:0002254 True 3-M syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0007477 MONDO:0006025 True 3-M syndrome autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0007477 MONDO:0015161 True 3-M syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007478 MONDO:0000426 True autosomal dominant Kenny-Caffey syndrome autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0007478 MONDO:0016516 True autosomal dominant Kenny-Caffey syndrome Kenny-Caffey syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0007481 MONDO:0005516 True Leri-Weill dyschondrosteosis osteochondrodysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0007481 MONDO:0018230 True Leri-Weill dyschondrosteosis skeletal dysplasia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007482 MONDO:0018230 True dyschondrosteosis-nephritis syndrome skeletal dysplasia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007416 MONDO:0001085 True Balkan nephropathy interstitial nephritis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0007424 MONDO:0019587 True autosomal dominant nonsyndromic hearing loss 1 autosomal dominant nonsyndromic hearing loss UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0007446 MONDO:0002406 True dermatosis papulosa nigra dermatitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0007450 MONDO:0004782 True neurohypophyseal diabetes insipidus diabetes insipidus UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0007452 MONDO:0018911 True maturity-onset diabetes of the young type 1 maturity-onset diabetes of the young UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS +MONDO:0007453 MONDO:0018911 True maturity-onset diabetes of the young type 2 maturity-onset diabetes of the young UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS +MONDO:0007473 MONDO:0002254 True Duane retraction syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0007478 MONDO:0016516 True autosomal dominant Kenny-Caffey syndrome Kenny-Caffey syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS MONDO:0007483 MONDO:0000118 True dyschromatosis symmetrica hereditaria reticulate pigment disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0007483 MONDO:0019289 True dyschromatosis symmetrica hereditaria hyperpigmentation of the skin UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007485 MONDO:0015780 True dyskeratosis congenita, autosomal dominant 1 dyskeratosis congenita UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0007486 MONDO:0020212 True hereditary benign intraepithelial dyskeratosis superficial corneal dystrophy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007489 MONDO:0018230 True dysplasia epiphysealis hemimelica skeletal dysplasia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007490 MONDO:0018230 True carpotarsal osteochondromatosis skeletal dysplasia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007493 MONDO:0015990 True torsion dystonia 4 focal, segmental or multifocal dystonia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007495 MONDO:0016812 True dystonia 5 dopa-responsive dystonia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007495 MONDO:0044807 True dystonia 5 inherited dystonia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0007496 MONDO:0020065 True dystonia 12 combined dystonia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007507 MONDO:0019268 True absence of fingerprints-congenital milia syndrome epidermal disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007508 MONDO:0000426 True Rapp-Hodgkin syndrome autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0007508 MONDO:0019287 True Rapp-Hodgkin syndrome ectodermal dysplasia syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED -MONDO:0007510 MONDO:0017666 True Clouston syndrome diffuse palmoplantar keratoderma UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007510 MONDO:0019287 True Clouston syndrome ectodermal dysplasia syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0007511 MONDO:0019287 True ectodermal dysplasia, trichoodontoonychial type ectodermal dysplasia syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING -MONDO:0007514 MONDO:0003847 True ectopia lentis 1, isolated, autosomal dominant hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0007514 MONDO:0015998 True ectopia lentis 1, isolated, autosomal dominant isolated ectopia lentis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0007519 MONDO:0043009 True Edinburgh malformation syndrome hereditary lethal multiple congenital anomalies/dysmorphic syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007520 MONDO:0010004 True ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 1 EEC syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED -MONDO:0007522 MONDO:0020066 True Ehlers-Danlos syndrome, classic type Ehlers-Danlos syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007523 MONDO:0020066 True Ehlers-Danlos syndrome, hypermobility type Ehlers-Danlos syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0007524 MONDO:0000426 True autosomal dominant Ehlers-Danlos syndrome, vascular type autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0007525 MONDO:0020066 True Ehlers-Danlos syndrome, arthrochalasis type Ehlers-Danlos syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0007526 MONDO:0015327 True Ehlers-Danlos syndrome, spondylodysplastic type developmental anomaly of metabolic origin UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007526 MONDO:0019052 True Ehlers-Danlos syndrome, spondylodysplastic type inborn errors of metabolism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0007526 MONDO:0020066 True Ehlers-Danlos syndrome, spondylodysplastic type Ehlers-Danlos syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0007527 MONDO:0020066 True Ehlers-Danlos syndrome, periodontitis type Ehlers-Danlos syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007534 MONDO:0015356 True Beckwith-Wiedemann syndrome hereditary neoplastic syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007534 MONDO:0019716 True Beckwith-Wiedemann syndrome overgrowth syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007537 MONDO:0003847 True lateral meningocele syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0007537 MONDO:0018075 True lateral meningocele syndrome neural tube defect UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0007538 MONDO:0019507 True amelogenesis imperfecta, type 3A amelogenesis imperfecta UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0007540 MONDO:0000426 True multiple endocrine neoplasia type 1 autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0007540 MONDO:0016365 True multiple endocrine neoplasia type 1 familial primary hyperparathyroidism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007540 MONDO:0017169 True multiple endocrine neoplasia type 1 multiple endocrine neoplasia UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0007540 MONDO:0021227 True multiple endocrine neoplasia type 1 adrenal gland neoplasm UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007542 MONDO:0018230 True Camurati-Engelmann disease skeletal dysplasia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007548 MONDO:0006543 True transient bullous dermolysis of the newborn epidermolysis bullosa dystrophica UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0007549 MONDO:0006543 True generalized dominant dystrophic epidermolysis bullosa epidermolysis bullosa dystrophica UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0007550 MONDO:0017610 True epidermolysis bullosa simplex 1A, generalized severe epidermolysis bullosa simplex UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0007551 MONDO:0017610 True epidermolysis bullosa simplex 1C, localized epidermolysis bullosa simplex UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0007552 MONDO:0006543 True pretibial dystrophic epidermolysis bullosa epidermolysis bullosa dystrophica UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0007554 MONDO:0017610 True epidermolysis bullosa simplex 1B, generalized intermediate epidermolysis bullosa simplex UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0007555 MONDO:0017610 True pidermolysis bullosa simplex 5A, Ogna type epidermolysis bullosa simplex UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0007556 MONDO:0017610 True epidermolysis bullosa simplex 2F, with mottled pigmentation epidermolysis bullosa simplex UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0007557 MONDO:0003847 True epidermolysis bullosa with congenital localized absence of skin and deformity of nails hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0007558 MONDO:0015650 True benign occipital epilepsy epilepsy syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007485 MONDO:0015780 True dyskeratosis congenita, autosomal dominant 1 dyskeratosis congenita UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0007486 MONDO:0002254 True hereditary benign intraepithelial dyskeratosis syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007495 MONDO:0044807 True dystonia 5 inherited dystonia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0007510 MONDO:0019287 True Clouston syndrome ectodermal dysplasia syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0007523 MONDO:0020066 True Ehlers-Danlos syndrome, hypermobility type Ehlers-Danlos syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0007525 MONDO:0020066 True Ehlers-Danlos syndrome, arthrochalasis type Ehlers-Danlos syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0007534 MONDO:0015356 True Beckwith-Wiedemann syndrome hereditary neoplastic syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007536 MONDO:0004849 True congenital lobar emphysema pulmonary emphysema UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007538 MONDO:0019507 True amelogenesis imperfecta, type 3A amelogenesis imperfecta UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0007540 MONDO:0017169 True multiple endocrine neoplasia type 1 multiple endocrine neoplasia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0007542 MONDO:0002254 True Camurati-Engelmann disease syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0007550 MONDO:0017610 True epidermolysis bullosa simplex 1A, generalized severe epidermolysis bullosa simplex UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0007551 MONDO:0017610 True epidermolysis bullosa simplex 1C, localized epidermolysis bullosa simplex UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0007554 MONDO:0017610 True epidermolysis bullosa simplex 1B, generalized intermediate epidermolysis bullosa simplex UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0007555 MONDO:0017610 True pidermolysis bullosa simplex 5A, Ogna type epidermolysis bullosa simplex UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0007556 MONDO:0017610 True epidermolysis bullosa simplex 2F, with mottled pigmentation epidermolysis bullosa simplex UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS MONDO:0007559 MONDO:0015643 True photoparoxysmal response 1 photosensitive epilepsy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0007560 MONDO:0017768 True reading seizures reflex epilepsy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007561 MONDO:0016648 True multiple epiphyseal dysplasia type 1 multiple epiphyseal dysplasia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0007562 MONDO:0016648 True multiple epiphyseal dysplasia, Beighton type multiple epiphyseal dysplasia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS -MONDO:0007562 MONDO:0022800 True multiple epiphyseal dysplasia, Beighton type type 2 collagenopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007564 MONDO:0003413 True pilomatrixoma hair follicle neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0007565 MONDO:0011512 True familial cylindromatosis Brooke-Spiegler syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0007561 MONDO:0016648 True multiple epiphyseal dysplasia type 1 multiple epiphyseal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0007564 MONDO:0003413 True pilomatrixoma hair follicle neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0007566 MONDO:0015356 True multiple self-healing squamous epithelioma hereditary neoplastic syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007568 MONDO:0019625 True aortic aneurysm, familial thoracic 4 familial thoracic aortic aneurysm and aortic dissection UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0007572 MONDO:0001115 True primary familial polycythemia due to EPO receptor mutation familial polycythemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0007574 MONDO:0019270 True spinocerebellar ataxia type 34 erythrokeratoderma UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007574 MONDO:0019792 True spinocerebellar ataxia type 34 autosomal dominant cerebellar ataxia type I UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007576 MONDO:0002516 True esophageal cancer digestive system cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0007571 MONDO:0016028 True primary erythermalgia erythromelalgia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007572 MONDO:0001115 True primary familial polycythemia due to EPO receptor mutation familial polycythemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0007576 MONDO:0002516 True esophageal cancer digestive system cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0007576 MONDO:0021355 True esophageal cancer neoplasm of esophagus UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007585 MONDO:0005508 True exostoses, multiple, type 1 hereditary multiple osteochondromas UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0007586 MONDO:0005508 True exostoses, multiple, type 2 hereditary multiple osteochondromas UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0007587 MONDO:0015161 True external auditory canal atresia-vertical talus-hypertelorism syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007587 MONDO:0018234 True external auditory canal atresia-vertical talus-hypertelorism syndrome dysostosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007588 MONDO:0015159 True extrasystoles-short stature-hyperpigmentation-microcephaly syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007588 MONDO:0019289 True extrasystoles-short stature-hyperpigmentation-microcephaly syndrome hyperpigmentation of the skin UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007589 MONDO:0019516 True exudative vitreoretinopathy 1 exudative vitreoretinopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0007592 MONDO:0020127 True familial recurrent peripheral facial palsy hereditary peripheral neuropathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007603 MONDO:0002254 True Felty syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0007604 MONDO:0015161 True femoral-facial syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007604 MONDO:0018234 True femoral-facial syndrome dysostosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007604 MONDO:0019054 True femoral-facial syndrome congenital limb malformation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007606 MONDO:0003847 True fibrodysplasia ossificans progressiva hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0007606 MONDO:0019296 True fibrodysplasia ossificans progressiva subcutaneous tissue disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007589 MONDO:0019516 True exudative vitreoretinopathy 1 exudative vitreoretinopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0007603 MONDO:0002254 True Felty syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0007606 MONDO:0003847 True fibrodysplasia ossificans progressiva hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0007608 MONDO:0005031 True desmoid tumor fibromatosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007608 MONDO:0006424 True desmoid tumor soft tissue neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007609 MONDO:0016070 True fibromatosis, gingival, 1 hereditary gingival fibromatosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0007610 MONDO:0019280 True gingival fibromatosis-hypertrichosis syndrome hypertrichosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007610 MONDO:0019287 True gingival fibromatosis-hypertrichosis syndrome ectodermal dysplasia syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING -MONDO:0007614 MONDO:0001584 True congenital fibrosis of extraocular muscles ocular motility disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0007614 MONDO:0016106 True congenital fibrosis of extraocular muscles progressive muscular dystrophy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007615 MONDO:0019054 True laurin-Sandrow syndrome congenital limb malformation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007617 MONDO:0000426 True Coffin-Siris syndrome 1 autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0007617 MONDO:0015452 True Coffin-Siris syndrome 1 Coffin-Siris syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0007619 MONDO:0000426 True isolated congenital adermatoglyphia autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0007620 MONDO:0018999 True fish eye disease LCAT deficiency UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007620 MONDO:0019052 True fish eye disease inborn errors of metabolism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007621 MONDO:0003847 True Floating-Harbor syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0007621 MONDO:0015159 True Floating-Harbor syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007624 MONDO:0019303 True Flynn-Aird syndrome premature aging syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007627 MONDO:0018363 True focal facial dermal dysplasia type I focal facial dermal dysplasia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0007617 MONDO:0015452 True Coffin-Siris syndrome 1 Coffin-Siris syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0007627 MONDO:0018363 True focal facial dermal dysplasia type I focal facial dermal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0007628 MONDO:0044203 True foveal hypoplasia 1 foveal hypoplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0007630 MONDO:0031166 True North Carolina macular dystrophy macular dystrophy, retinal UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0007631 MONDO:0003847 True chromosome 16p12.1 deletion syndrome, 520kb hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0007635 MONDO:0000426 True Frasier syndrome autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0007635 MONDO:0002254 True Frasier syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0007635 MONDO:0020040 True Frasier syndrome 46,XY disorder of sex development UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007636 MONDO:0016643 True frontorhiny frontonasal dysplasia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0007631 MONDO:0002254 True chromosome 16p12.1 deletion syndrome, 520kb syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0007635 MONDO:0002254 True Frasier syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0007636 MONDO:0016643 True frontorhiny frontonasal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS MONDO:0007637 MONDO:0005321 True corneal dystrophy, Fuchs endothelial, 1 Fuchs' endothelial dystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0007640 MONDO:0019118 True Sorsby fundus dystrophy inherited retinal dystrophy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0007646 MONDO:0002254 True Gamstorp-Wohlfart syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0007648 MONDO:0005017 True hereditary diffuse gastric adenocarcinoma diffuse gastric adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0007648 MONDO:0018502 True hereditary diffuse gastric adenocarcinoma hereditary gastric cancer UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007650 MONDO:0004949 True MALT lymphoma neoplasm of mature B-cells UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0007650 MONDO:0017604 True MALT lymphoma marginal zone lymphoma UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0007651 MONDO:0019289 True gastrocutaneous syndrome hyperpigmentation of the skin UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007652 MONDO:0004966 True gastric mucosal hypertrophy gastritis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0007655 MONDO:0001165 True fissured tongue tongue disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0007656 MONDO:0005429 True Gerstmann-Straussler-Scheinker syndrome prion disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0007661 MONDO:0002420 True Tourette syndrome tic disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0007669 MONDO:0018911 True renal cysts and diabetes syndrome maturity-onset diabetes of the young UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED -MONDO:0007670 MONDO:0019175 True hypotrichosis-lymphedema-telangiectasia syndrome (grouping) primary lymphedema UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007671 MONDO:0019722 True fibronectin glomerulopathy glomerular disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007680 MONDO:0015161 True multinodular goiter-cystic kidney-polydactyly syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007650 MONDO:0017604 True MALT lymphoma marginal zone lymphoma UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0007652 MONDO:0004966 True gastric mucosal hypertrophy gastritis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0007656 MONDO:0005429 True Gerstmann-Straussler-Scheinker syndrome prion disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0007661 MONDO:0002254 True Tourette syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0007661 MONDO:0005395 True Tourette syndrome movement disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0007669 MONDO:0002254 True renal cysts and diabetes syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0007681 MONDO:0000334 True goiter, multinodular 1, with or without Sertoli-Leydig cell tumors multinodular goiter UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0007681 MONDO:0015356 True goiter, multinodular 1, with or without Sertoli-Leydig cell tumors hereditary neoplastic syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007686 MONDO:0000009 True gray platelet syndrome inherited bleeding disorder, platelet-type UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0007686 MONDO:0020117 True gray platelet syndrome alpha granule disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007688 MONDO:0015159 True Myhre syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007688 MONDO:0019695 True Myhre syndrome acromelic dysplasia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007690 MONDO:0005039 True aromatase excess syndrome reproductive system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0007693 MONDO:0019280 True hypertrichosis cubiti-short stature syndrome hypertrichosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007693 MONDO:0019287 True hypertrichosis cubiti-short stature syndrome ectodermal dysplasia syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING -MONDO:0007696 MONDO:0019054 True Emery-Nelson syndrome congenital limb malformation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007698 MONDO:0000426 True hand-foot-genital syndrome autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0007698 MONDO:0002254 True hand-foot-genital syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0007698 MONDO:0015161 True hand-foot-genital syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007698 MONDO:0018234 True hand-foot-genital syndrome dysostosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0007698 MONDO:0019054 True hand-foot-genital syndrome congenital limb malformation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007700 MONDO:0017307 True hawkinsinuria disorder of tyrosine metabolism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007701 MONDO:0019490 True progressive familial heart block type II progressive familial heart block UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0007705 MONDO:0003664 True Heinz body anemia hemolytic anemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0007709 MONDO:0003847 True hematuria, benign familial hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0007710 MONDO:0002098 True facial hemiatrophy facial nerve disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0007711 MONDO:0015161 True Bencze syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007712 MONDO:0015161 True oculoauriculovertebral spectrum with radial defects multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007712 MONDO:0018234 True oculoauriculovertebral spectrum with radial defects dysostosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007716 MONDO:0016894 True alpha thalassemia-intellectual disability syndrome type 1 partial deletion of the short arm of chromosome 16 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007718 MONDO:0003847 True hepatic adenomas, familial hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0007718 MONDO:0018902 True hepatic adenomas, familial hepatocellular adenoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0007719 MONDO:0005711 True diaphragmatic hernia 1 congenital diaphragmatic hernia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0007721 MONDO:0004298 True hiatus hernia stomach disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0007725 MONDO:0015531 True hereditary progressive mucinous histiocytosis non-Langerhans cell histiocytosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007727 MONDO:0017953 True autosomal dominant familial periodic fever hereditary periodic fever syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007686 MONDO:0000009 True gray platelet syndrome inherited bleeding disorder, platelet-type UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0007686 MONDO:0002254 True gray platelet syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0007701 MONDO:0019490 True progressive familial heart block type II progressive familial heart block UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0007710 MONDO:0002254 True facial hemiatrophy syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0007728 MONDO:0024516 True acne inversa, familial, 1 familial acne inversa UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0007729 MONDO:0000158 True developmental dysplasia of the hip 1 developmental dysplasia of the hip UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0007732 MONDO:0000426 True Holt-Oram syndrome autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0007732 MONDO:0015161 True Holt-Oram syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007732 MONDO:0016432 True Holt-Oram syndrome heart-hand syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007733 MONDO:0016296 True holoprosencephaly 3 holoprosencephaly UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0007734 MONDO:0016296 True holoprosencephaly 4 holoprosencephaly UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0007737 MONDO:0001411 True humeroradial synostosis synostosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0007738 MONDO:0016761 True spondyloepiphyseal dysplasia with congenital joint dislocations spondyloepiphyseal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0007738 MONDO:0019052 True spondyloepiphyseal dysplasia with congenital joint dislocations inborn errors of metabolism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0007744 MONDO:0015903 True cholesterol-ester transfer protein deficiency hyperalphalipoproteinemia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007745 MONDO:0002408 True Gilbert syndrome hereditary hyperbilirubinemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0007747 MONDO:0006025 True isolated hyperchlorhidrosis autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0007747 MONDO:0021026 True isolated hyperchlorhidrosis hereditary epidermal appendage anomaly UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007733 MONDO:0016296 True holoprosencephaly 3 holoprosencephaly UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0007734 MONDO:0016296 True holoprosencephaly 4 holoprosencephaly UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0007741 MONDO:0005510 True congenital hydronephrosis hydronephrosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007745 MONDO:0002254 True Gilbert syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0007745 MONDO:0002408 True Gilbert syndrome hereditary hyperbilirubinemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS MONDO:0007750 MONDO:0005439 True hypercholesterolemia, familial, 1 familial hypercholesterolemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0007751 MONDO:0005439 True hypercholesterolemia, autosomal dominant, type B familial hypercholesterolemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0007753 MONDO:0001292 True Frey syndrome autonomic nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0007756 MONDO:0019268 True hyperkeratosis lenticularis perstans epidermal disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007757 MONDO:0019289 True hyperkeratosis-hyperpigmentation syndrome hyperpigmentation of the skin UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007758 MONDO:0017666 True epidermolytic palmoplantar keratoderma diffuse palmoplantar keratoderma UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007762 MONDO:0001336 True hyperlipoproteinemia type V familial hyperlipidemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0007763 MONDO:0005086 True nonpapillary renal cell carcinoma renal cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0007764 MONDO:0002185 True autosomal dominant osteosclerosis, Worth type hyperostosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0007764 MONDO:0018230 True autosomal dominant osteosclerosis, Worth type skeletal dysplasia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007768 MONDO:0015356 True hyperparathyroidism 2 with jaw tumors hereditary neoplastic syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007768 MONDO:0016365 True hyperparathyroidism 2 with jaw tumors familial primary hyperparathyroidism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007772 MONDO:0019162 True pseudohypoaldosteronism type 2A pseudohypoaldosteronism type 2 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0007768 MONDO:0015356 True hyperparathyroidism 2 with jaw tumors hereditary neoplastic syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007772 MONDO:0019162 True pseudohypoaldosteronism type 2A pseudohypoaldosteronism type 2 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0007783 MONDO:0800188 True malignant hyperthermia, susceptibility to, 1 malignant hyperthermia, susceptibility to UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0007784 MONDO:0004425 True selective pituitary resistance to thyroid hormone hyperthyroidism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0007785 MONDO:0003847 True hyperthyroxinemia, dystransthyretinemic hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0007785 MONDO:0005333 True hyperthyroxinemia, dystransthyretinemic hyperthyroxinemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0007787 MONDO:0016381 True Ambras type hypertrichosis universalis congenita hypertrichosis lanuginosa congenita UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING -MONDO:0007790 MONDO:0015626 True Charcot-Marie-Tooth disease type 3 Charcot-Marie-Tooth disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0007791 MONDO:0018458 True familial hypocalciuric hypercalcemia 1 familial hypocalciuric hypercalcemia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0007792 MONDO:0018458 True familial hypocalciuric hypercalcemia 2 familial hypocalciuric hypercalcemia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0007793 MONDO:0005516 True hypochondroplasia osteochondrodysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0007793 MONDO:0019685 True hypochondroplasia FGFR3-related chondrodysplasia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007795 MONDO:0015161 True mullerian duct anomalies-limb anomalies syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007790 MONDO:0015626 True Charcot-Marie-Tooth disease type 3 Charcot-Marie-Tooth disease UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0007791 MONDO:0018458 True familial hypocalciuric hypercalcemia 1 familial hypocalciuric hypercalcemia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0007792 MONDO:0018458 True familial hypocalciuric hypercalcemia 2 familial hypocalciuric hypercalcemia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0007793 MONDO:0005516 True hypochondroplasia osteochondrodysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0007796 MONDO:0016390 True hypoparathyroidism, familial isolated 1 familial hypoparathyroidism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0007797 MONDO:0003847 True hypoparathyroidism-deafness-renal disease syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0007797 MONDO:0016892 True hypoparathyroidism-deafness-renal disease syndrome partial deletion of the short arm of chromosome 10 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007800 MONDO:0016880 True chromosome 18p deletion syndrome partial deletion of chromosome 18 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007797 MONDO:0002254 True hypoparathyroidism-deafness-renal disease syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0007800 MONDO:0002254 True chromosome 18p deletion syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0007802 MONDO:0005345 True hypospadias 3, autosomal hypospadias UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0007803 MONDO:0000510 True multiple system atrophy synucleinopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0007804 MONDO:0002254 True Pallister-Hall syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0007804 MONDO:0018762 True Pallister-Hall syndrome non-acquired combined pituitary hormone deficiency UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007805 MONDO:0003037 True hypotrichosis 2 hypotrichosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0007808 MONDO:0859383 True ichthyosis hystrix of Curth-Macklin ichthyosis hystrix UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0007809 MONDO:0859383 True ichthyosis histrix, Lambert type ichthyosis hystrix UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0007810 MONDO:0000426 True autosomal dominant ichthyosis vulgaris autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0007813 MONDO:0017266 True superficial epidermolytic ichthyosis keratinopathic ichthyosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007818 MONDO:0000426 True hyper-IgE recurrent infection syndrome 1, autosomal dominant autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0007818 MONDO:0018037 True hyper-IgE recurrent infection syndrome 1, autosomal dominant hyper-IgE syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0007827 MONDO:0021167 True inclusion body myositis myositis disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0007828 MONDO:0003847 True indifference to pain, congenital, autosomal dominant hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0007829 MONDO:0100429 True cholestasis, intrahepatic, of pregnancy, 1 intrahepatic cholestasis of pregnancy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0007835 MONDO:0004565 True intussusception intestinal obstruction UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0007836 MONDO:0003847 True IVIC syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0007836 MONDO:0018234 True IVIC syndrome dysostosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0007836 MONDO:0019054 True IVIC syndrome congenital limb malformation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007837 MONDO:0015159 True Johnson neuroectodermal syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007837 MONDO:0019287 True Johnson neuroectodermal syndrome ectodermal dysplasia syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING -MONDO:0007838 MONDO:0016910 True Jacobsen syndrome partial deletion of the long arm of chromosome 11 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007838 MONDO:0018795 True Jacobsen syndrome syndromic constitutional thrombocytopenia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007839 MONDO:0015161 True Aase-Smith syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007839 MONDO:0020022 True Aase-Smith syndrome central nervous system malformation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007804 MONDO:0002254 True Pallister-Hall syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0007805 MONDO:0003037 True hypotrichosis 2 hypotrichosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0007818 MONDO:0018037 True hyper-IgE recurrent infection syndrome 1, autosomal dominant hyper-IgE syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0007827 MONDO:0021167 True inclusion body myositis myositis disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0007834 MONDO:0001933 True islet cell adenomatosis endocrine pancreas disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007838 MONDO:0002254 True Jacobsen syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0007843 MONDO:0016512 True Kabuki syndrome 1 Kabuki syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0007846 MONDO:0015159 True KBG syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007848 MONDO:0000426 True autosomal dominant keratitis autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0007848 MONDO:0003085 True autosomal dominant keratitis keratitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0007850 MONDO:0000426 True autosomal dominant keratitis-ichthyosis-hearing loss syndrome autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0007850 MONDO:0018781 True autosomal dominant keratitis-ichthyosis-hearing loss syndrome KID syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0007851 MONDO:0015486 True keratoconus 1 keratoconus UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0007852 MONDO:0017666 True palmoplantar keratoderma-deafness syndrome diffuse palmoplantar keratoderma UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007853 MONDO:0017666 True palmoplantar keratoderma-hereditary motor and sensory neuropathy syndrome diffuse palmoplantar keratoderma UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007854 MONDO:0019268 True keratolytic winter erythema epidermal disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007856 MONDO:0002254 True palmoplantar keratoderma-esophageal carcinoma syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0007856 MONDO:0017672 True palmoplantar keratoderma-esophageal carcinoma syndrome focal palmoplantar keratoderma UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007857 MONDO:0017666 True keratosis palmaris et plantaris-clinodactyly syndrome diffuse palmoplantar keratoderma UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007860 MONDO:0017672 True focal palmoplantar and gingival keratoderma focal palmoplantar keratoderma UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007862 MONDO:0018094 True Waardenburg syndrome type 3 Waardenburg syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0007863 MONDO:0004617 True Kleine-Levin syndrome recurrent hypersomnia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0007864 MONDO:0002254 True angioosteohypertrophic syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0007864 MONDO:0019716 True angioosteohypertrophic syndrome overgrowth syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007864 MONDO:0019755 True angioosteohypertrophic syndrome developmental defect during embryogenesis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007866 MONDO:0017666 True Bart-Pumphrey syndrome diffuse palmoplantar keratoderma UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007867 MONDO:0019284 True nonsyndromic congenital nail disorder 2 inherited isolated nail anomaly UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0007868 MONDO:0021022 True hyperekplexia 1 hereditary hyperekplexia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0007871 MONDO:0018751 True familial congenital nasolacrimal duct obstruction hereditary otorhinolaryngologic disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007872 MONDO:0000426 True LADD syndrome autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0007872 MONDO:0015161 True LADD syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007874 MONDO:0000426 True trichorhinophalangeal syndrome type II autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0007874 MONDO:0015159 True trichorhinophalangeal syndrome type II multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007874 MONDO:0016907 True trichorhinophalangeal syndrome type II partial deletion of the long arm of chromosome 8 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007874 MONDO:0017951 True trichorhinophalangeal syndrome type II trichorhinophalangeal syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0007875 MONDO:0000426 True Larsen syndrome autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0007875 MONDO:0019690 True Larsen syndrome filamin-related bone disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007875 MONDO:0019755 True Larsen syndrome developmental defect during embryogenesis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007878 MONDO:0004382 True congenital laryngomalacia laryngeal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0007862 MONDO:0018094 True Waardenburg syndrome type 3 Waardenburg syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0007863 MONDO:0002254 True Kleine-Levin syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0007864 MONDO:0002254 True angioosteohypertrophic syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0007867 MONDO:0019284 True nonsyndromic congenital nail disorder 2 inherited isolated nail anomaly UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0007868 MONDO:0021022 True hyperekplexia 1 hereditary hyperekplexia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0007874 MONDO:0017951 True trichorhinophalangeal syndrome type II trichorhinophalangeal syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0007878 MONDO:0004382 True congenital laryngomalacia laryngeal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0007879 MONDO:0004382 True larynx atresia laryngeal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007879 MONDO:0024623 True larynx atresia otorhinolaryngologic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007880 MONDO:0004382 True congenital laryngeal web laryngeal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007881 MONDO:0005486 True tooth agenesis, selective, 4 tooth agenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0007885 MONDO:0018381 True Legg-Calve-Perthes disease osteochondrosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0007885 MONDO:0022800 True Legg-Calve-Perthes disease type 2 collagenopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007886 MONDO:0001572 True uterine corpus leiomyoma leiomyoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0007886 MONDO:0021525 True uterine corpus leiomyoma benign neoplasm of corpus uteri UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007888 MONDO:0015356 True hereditary leiomyomatosis and renal cell cancer hereditary neoplastic syndrome UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007891 MONDO:0019289 True familial generalized lentiginosis hyperpigmentation of the skin UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007892 MONDO:0002254 True Lenz-Majewski hyperostotic dwarfism syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0007892 MONDO:0015159 True Lenz-Majewski hyperostotic dwarfism multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007892 MONDO:0018230 True Lenz-Majewski hyperostotic dwarfism skeletal dysplasia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007893 MONDO:0000426 True Noonan syndrome with multiple lentigines autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0007893 MONDO:0002254 True Noonan syndrome with multiple lentigines syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0007893 MONDO:0015161 True Noonan syndrome with multiple lentigines multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007893 MONDO:0020297 True Noonan syndrome with multiple lentigines Noonan syndrome and Noonan-related syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007894 MONDO:0019054 True Leri pleonosteosis congenital limb malformation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007895 MONDO:0019694 True platyspondylic dysplasia, Torrance type spondylodysplastic dysplasia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007895 MONDO:0022800 True platyspondylic dysplasia, Torrance type type 2 collagenopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007896 MONDO:0004600 True acute monocytic leukemia monocytic leukemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0007896 MONDO:0018874 True acute monocytic leukemia acute myeloid leukemia UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS -MONDO:0007900 MONDO:0019284 True nonsyndromic congenital nail disorder 3 inherited isolated nail anomaly UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0007904 MONDO:0015161 True median nodule of the upper lip multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007906 MONDO:0020088 True familial partial lipodystrophy, Dunnigan type familial partial lipodystrophy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0007908 MONDO:0006574 True multiple symmetric lipomatosis lipomatosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0007908 MONDO:0019296 True multiple symmetric lipomatosis subcutaneous tissue disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007909 MONDO:0019296 True familial multiple lipomatosis subcutaneous tissue disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007915 MONDO:0004670 True systemic lupus erythematosus lupus erythematosus UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0007916 MONDO:0018178 True primary intestinal lymphangiectasia intestinal lymphangiectasia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007918 MONDO:0002254 True microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0007918 MONDO:0019118 True microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability inherited retinal dystrophy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0007919 MONDO:0019313 True lymphatic malformation 1 lymphatic malformation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0007920 MONDO:0019313 True lymphatic malformation 5 lymphatic malformation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0007921 MONDO:0002254 True yellow nail syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0007921 MONDO:0019175 True yellow nail syndrome primary lymphedema UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007922 MONDO:0002254 True lymphedema-distichiasis syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0007924 MONDO:0000426 True Bannayan-Riley-Ruvalcaba syndrome autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0007924 MONDO:0015159 True Bannayan-Riley-Ruvalcaba syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007924 MONDO:0015185 True Bannayan-Riley-Ruvalcaba syndrome intestinal polyposis syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007924 MONDO:0017623 True Bannayan-Riley-Ruvalcaba syndrome PTEN hamartoma tumor syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0007924 MONDO:0019716 True Bannayan-Riley-Ruvalcaba syndrome overgrowth syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007925 MONDO:0003847 True myelodysplastic syndrome associated with isolated del(5q) hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0007925 MONDO:0018881 True myelodysplastic syndrome associated with isolated del(5q) myelodysplastic syndrome UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS -MONDO:0007927 MONDO:0015496 True congenital macroglossia macroglossia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007930 MONDO:0009276 True Bernard-Soulier syndrome, type A2, autosomal dominant Bernard-Soulier syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED +MONDO:0007888 MONDO:0015356 True hereditary leiomyomatosis and renal cell cancer hereditary neoplastic syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007893 MONDO:0002254 True Noonan syndrome with multiple lentigines syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0007896 MONDO:0018874 True acute monocytic leukemia acute myeloid leukemia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS +MONDO:0007899 MONDO:0002406 True lichen sclerosus et atrophicus dermatitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007900 MONDO:0019284 True nonsyndromic congenital nail disorder 3 inherited isolated nail anomaly UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0007906 MONDO:0020088 True familial partial lipodystrophy, Dunnigan type familial partial lipodystrophy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0007908 MONDO:0006574 True multiple symmetric lipomatosis lipomatosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0007915 MONDO:0004670 True systemic lupus erythematosus lupus erythematosus UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0007919 MONDO:0019313 True lymphatic malformation 1 lymphatic malformation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0007920 MONDO:0019313 True lymphatic malformation 5 lymphatic malformation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0007921 MONDO:0002254 True yellow nail syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0007922 MONDO:0002254 True lymphedema-distichiasis syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0007924 MONDO:0017623 True Bannayan-Riley-Ruvalcaba syndrome PTEN hamartoma tumor syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0007925 MONDO:0018881 True myelodysplastic syndrome associated with isolated del(5q) myelodysplastic syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS MONDO:0007931 MONDO:0000390 True vitelliform macular dystrophy 2 vitelliform macular dystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0007932 MONDO:0005150 True age related macular degeneration 2 age-related macular degeneration UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0007935 MONDO:0003005 True cystoid macular edema macular retinal edema UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0007938 MONDO:0010765 True 46,XY sex reversal 4 46,XY complete gonadal dysgenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0007932 MONDO:0005150 True age related macular degeneration 2 age-related macular degeneration UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0007935 MONDO:0003005 True cystoid macular edema macular retinal edema UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0007938 MONDO:0010765 True 46,XY sex reversal 4 46,XY complete gonadal dysgenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS MONDO:0007939 MONDO:0800188 True malignant hyperthermia, susceptibility to, 2 malignant hyperthermia, susceptibility to UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0007940 MONDO:0800188 True malignant hyperthermia, susceptibility to, 3 malignant hyperthermia, susceptibility to UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0007943 MONDO:0015161 True Nager acrofacial dysostosis multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007943 MONDO:0018237 True Nager acrofacial dysostosis acrofacial dysostosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0007944 MONDO:0002457 True Treacher Collins syndrome 1 Treacher-Collins syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0007946 MONDO:0003569 True jaw-winking syndrome cranial nerve neuropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0007947 MONDO:0017310 True Marfan syndrome Marfan and Marfan-related disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007949 MONDO:0015161 True Marshall syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007949 MONDO:0019287 True Marshall syndrome ectodermal dysplasia syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED +MONDO:0007944 MONDO:0002457 True Treacher Collins syndrome 1 Treacher-Collins syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0007947 MONDO:0002254 True Marfan syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0007950 MONDO:0002724 True mastocytosis mast cell neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0007950 MONDO:0004805 True mastocytosis leukocyte disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0007953 MONDO:0002232 True Binder syndrome nasal cavity disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0007953 MONDO:0015161 True Binder syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007956 MONDO:0016643 True Pai syndrome frontonasal dysplasia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING -MONDO:0007958 MONDO:0015277 True familial medullary thyroid carcinoma medullary thyroid gland carcinoma UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0007959 MONDO:0002913 True medulloblastoma cerebellar neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0007959 MONDO:0002913 True medulloblastoma cerebellar neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0007959 MONDO:0005564 True medulloblastoma embryonal neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0007967 MONDO:0015356 True melanoma and neural system tumor syndrome hereditary neoplastic syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007969 MONDO:0002098 True Melkersson-Rosenthal syndrome facial nerve disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0007970 MONDO:0017198 True melorheostosis osteopetrosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0007971 MONDO:0018230 True delayed membranous cranial ossification skeletal dysplasia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007972 MONDO:0006744 True Meniere disease endolymphatic hydrops UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0007963 MONDO:0024462 True melanoma, cutaneous malignant, susceptibility to, 1 susceptibility to familial cutaneous melanoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0007964 MONDO:0024462 True melanoma, cutaneous malignant, susceptibility to, 2 susceptibility to familial cutaneous melanoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0007969 MONDO:0002254 True Melkersson-Rosenthal syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0007974 MONDO:0100172 True intellectual disability, autosomal dominant 1 intellectual disability, autosomal dominant UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0007977 MONDO:0018230 True mesomelic dysplasia, Kantaputra type skeletal dysplasia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007979 MONDO:0003847 True metachondromatosis hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0007979 MONDO:0005381 True metachondromatosis bone disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0007982 MONDO:0005516 True metaphyseal chondrodysplasia, Jansen type osteochondrodysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0007982 MONDO:0018230 True metaphyseal chondrodysplasia, Jansen type skeletal dysplasia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007983 MONDO:0005516 True Schmid metaphyseal chondrodysplasia osteochondrodysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0007983 MONDO:0018230 True Schmid metaphyseal chondrodysplasia skeletal dysplasia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007984 MONDO:0018230 True metaphyseal dysplasia-maxillary hypoplasia-brachydacty syndrome skeletal dysplasia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007986 MONDO:0018240 True metatropic dysplasia TRPV4-related bone disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007987 MONDO:0016763 True Kniest dysplasia spondylometaphyseal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0007987 MONDO:0022800 True Kniest dysplasia type 2 collagenopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007988 MONDO:0000426 True autosomal dominant primary microcephaly autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0007988 MONDO:0002320 True autosomal dominant primary microcephaly congenital nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0007988 MONDO:0016056 True autosomal dominant primary microcephaly isolated congenital microcephaly UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0007989 MONDO:0011119 True congenital microcoria iridogoniodysgenesis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007990 MONDO:0005093 True multiple benign circumferential skin creases on limbs skin disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0007991 MONDO:0015159 True microcephaly-deafness-intellectual disability syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007999 MONDO:0016296 True holoprosencephaly 2 holoprosencephaly UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0007999 MONDO:0016296 True holoprosencephaly 2 holoprosencephaly UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS MONDO:0008000 MONDO:0100246 True migraine with or without aura, susceptibility to, 1 migraine with or without aura, susceptibility to UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0008004 MONDO:0019817 True familial mitral valve prolapse congenital mitral valve insufficiency and/or stenosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008006 MONDO:0002098 True Mobius syndrome facial nerve disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0008007 MONDO:0002220 True tooth ankylosis tooth hard tissue disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0008007 MONDO:0002257 True tooth ankylosis ankylosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0008009 MONDO:0000426 True monilethrix autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0008013 MONDO:0016874 True chromosome 9p deletion syndrome partial deletion of chromosome 9 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008015 MONDO:0002467 True motion sickness inner ear disorder UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0008016 MONDO:0019942 True trismus-pseudocamptodactyly syndrome distal arthrogryposis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0008018 MONDO:0000426 True Muir-Torre syndrome autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0008018 MONDO:0018630 True Muir-Torre syndrome hereditary nonpolyposis colon cancer UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING -MONDO:0008019 MONDO:0003847 True mullerian aplasia and hyperandrogenism hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0008019 MONDO:0015830 True mullerian aplasia and hyperandrogenism partial bilateral aplasia of the mullerian ducts UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008006 MONDO:0002254 True Mobius syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0008016 MONDO:0019942 True trismus-pseudocamptodactyly syndrome distal arthrogryposis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS MONDO:0008021 MONDO:0016063 True Cowden syndrome 1 Cowden disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0008023 MONDO:0100309 True muscular atrophy-ataxia-retinitis pigmentosa-diabetes mellitus syndrome hereditary ataxia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008024 MONDO:0015355 True neuronopathy, distal hereditary motor, type 7A distal hereditary motor neuropathy type 7 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0008025 MONDO:0015352 True neuronopathy, distal hereditary motor, type 2A distal hereditary motor neuropathy type 2 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0008026 MONDO:0018190 True autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures autosomal dominant childhood-onset proximal spinal muscular atrophy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0008029 MONDO:0016106 True Bethlem myopathy progressive muscular dystrophy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008029 MONDO:0019950 True Bethlem myopathy congenital muscular dystrophy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0008030 MONDO:0001347 True facioscapulohumeral muscular dystrophy 1 facioscapulohumeral muscular dystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0008031 MONDO:0001347 True facioscapulohumeral muscular dystrophy 2 facioscapulohumeral muscular dystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0008039 MONDO:0020010 True tropical spastic paraparesis infectious disorder of the nervous system UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008040 MONDO:0020076 True transient myeloproliferative syndrome myeloproliferative neoplasm UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0008043 MONDO:0100309 True myoclonus-cerebellar ataxia-deafness syndrome hereditary ataxia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008044 MONDO:0000903 True myoclonic dystonia 11 myoclonus-dystonia syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0008045 MONDO:0001516 True spinal muscular atrophy-progressive myoclonic epilepsy syndrome spinal muscular atrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0008045 MONDO:0024257 True spinal muscular atrophy-progressive myoclonic epilepsy syndrome hereditary motor neuron disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008046 MONDO:0019052 True autosomal dominant myoglobinuria inborn errors of metabolism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008047 MONDO:0016227 True episodic ataxia type 1 hereditary episodic ataxia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0008048 MONDO:0000426 True autosomal dominant centronuclear myopathy autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0008048 MONDO:0002921 True autosomal dominant centronuclear myopathy congenital structural myopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0008048 MONDO:0018947 True autosomal dominant centronuclear myopathy centronuclear myopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0008049 MONDO:0018949 True myopathy, distal, infantile-onset distal myopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED -MONDO:0008050 MONDO:0016195 True MYH7-related skeletal myopathy qualitative or quantitative defects of beta-myosin heavy chain (MYH7) UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008050 MONDO:0018949 True MYH7-related skeletal myopathy distal myopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0008051 MONDO:0019952 True tubular aggregate myopathy congenital myopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS +MONDO:0008026 MONDO:0018190 True autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures autosomal dominant childhood-onset proximal spinal muscular atrophy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0008030 MONDO:0001347 True facioscapulohumeral muscular dystrophy 1 facioscapulohumeral muscular dystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0008031 MONDO:0001347 True facioscapulohumeral muscular dystrophy 2 facioscapulohumeral muscular dystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0008047 MONDO:0016227 True episodic ataxia type 1 hereditary episodic ataxia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0008048 MONDO:0002921 True autosomal dominant centronuclear myopathy congenital structural myopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0008048 MONDO:0018947 True autosomal dominant centronuclear myopathy centronuclear myopathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0008050 MONDO:0018949 True MYH7-related skeletal myopathy distal myopathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS MONDO:0008053 MONDO:0001384 True myopia 2, autosomal dominant myopia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0008054 MONDO:0016367 True juvenile dermatomyositis dermatomyositis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0008054 MONDO:0018010 True juvenile dermatomyositis juvenile idiopathic inflammatory myopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008055 MONDO:0003847 True myotonia congenita, autosomal dominant hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0008055 MONDO:0009710 True myotonia congenita, autosomal dominant Thomsen and Becker disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0008056 MONDO:0016107 True myotonic dystrophy type 1 myotonic dystrophy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0008058 MONDO:0019952 True cylindrical spirals myopathy congenital myopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED -MONDO:0008059 MONDO:0017666 True Naegeli-Franceschetti-Jadassohn syndrome diffuse palmoplantar keratoderma UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008059 MONDO:0019287 True Naegeli-Franceschetti-Jadassohn syndrome ectodermal dysplasia syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED -MONDO:0008059 MONDO:0019289 True Naegeli-Franceschetti-Jadassohn syndrome hyperpigmentation of the skin UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008060 MONDO:0019284 True nonsyndromic congenital nail disorder 1 inherited isolated nail anomaly UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0008061 MONDO:0000426 True nail-patella syndrome autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0008061 MONDO:0002254 True nail-patella syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0008061 MONDO:0018234 True nail-patella syndrome dysostosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0008054 MONDO:0016367 True juvenile dermatomyositis dermatomyositis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0008056 MONDO:0016107 True myotonic dystrophy type 1 myotonic dystrophy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0008060 MONDO:0019284 True nonsyndromic congenital nail disorder 1 inherited isolated nail anomaly UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0008061 MONDO:0002254 True nail-patella syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0008073 MONDO:0000608 True familial juvenile hyperuricemic nephropathy type 1 familial juvenile hyperuricemic nephropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0008073 MONDO:0008264 True familial juvenile hyperuricemic nephropathy type 1 autosomal dominant medullary cystic kidney disease with or without hyperuricemia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008075 MONDO:0002546 True schwannomatosis schwannoma UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0008075 MONDO:0019289 True schwannomatosis hyperpigmentation of the skin UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008075 MONDO:0019755 True schwannomatosis developmental defect during embryogenesis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008076 MONDO:0006683 True amyotrophic neuralgia brachial plexus neuropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0008082 MONDO:0000426 True multiple endocrine neoplasia type 2B autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0008082 MONDO:0019003 True multiple endocrine neoplasia type 2B multiple endocrine neoplasia type 2 UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008083 MONDO:0019260 True ceroid lipofuscinosis, neuronal, 4 (Kufs type) adult neuronal ceroid lipofuscinosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008086 MONDO:0018213 True neuropathy, hereditary sensory and autonomic, type 1A hereditary sensory and autonomic neuropathy type 1 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0008087 MONDO:0020127 True hereditary neuropathy with liability to pressure palsies hereditary peripheral neuropathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008087 MONDO:0022754 True hereditary neuropathy with liability to pressure palsies chromosome 17p deletion UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008090 MONDO:0015134 True cyclic hematopoiesis constitutional neutropenia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008092 MONDO:0003847 True hereditary neutrophilia hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0008092 MONDO:0004805 True hereditary neutrophilia leukocyte disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0008094 MONDO:0016231 True familial multiple nevi flammei capillary malformation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008094 MONDO:0019293 True familial multiple nevi flammei skin vascular disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0008097 MONDO:0019755 True linear nevus sebaceous syndrome developmental defect during embryogenesis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008098 MONDO:0018230 True mesomelic dwarfism, Nievergelt type skeletal dysplasia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008099 MONDO:0016293 True congenital stationary night blindness autosomal dominant 2 congenital stationary night blindness UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0008082 MONDO:0019003 True multiple endocrine neoplasia type 2B multiple endocrine neoplasia type 2 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008094 MONDO:0021658 True familial multiple nevi flammei vascular ectasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008095 MONDO:0021658 True nevus anemicus vascular ectasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008097 MONDO:0006499 True linear nevus sebaceous syndrome hamartoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008099 MONDO:0016293 True congenital stationary night blindness autosomal dominant 2 congenital stationary night blindness UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS MONDO:0008102 MONDO:0012061 True sick sinus syndrome 2, autosomal dominant familial sick sinus syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0008104 MONDO:0018997 True Noonan syndrome 1 Noonan syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0008106 MONDO:0005712 True nystagmus 2, congenital, autosomal dominant congenital nystagmus UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0008111 MONDO:0018230 True oculodentodigital dysplasia skeletal dysplasia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008111 MONDO:0019287 True oculodentodigital dysplasia ectodermal dysplasia syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS -MONDO:0008113 MONDO:0015161 True Schilbach-Rott syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008114 MONDO:0005618 True obsessive-compulsive disorder anxiety disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0008115 MONDO:0015267 True Feingold syndrome type 1 Feingold syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0008116 MONDO:0016106 True oculopharyngeal muscular dystrophy progressive muscular dystrophy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008119 MONDO:0015548 True spinocerebellar ataxia type 1 Huntington disease-like syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008119 MONDO:0019792 True spinocerebellar ataxia type 1 autosomal dominant cerebellar ataxia type I UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008123 MONDO:0000426 True autosomal dominant omodysplasia autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0008123 MONDO:0017136 True autosomal dominant omodysplasia omodysplasia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0008125 MONDO:0019284 True nonsyndromic congenital nail disorder 5 inherited isolated nail anomaly UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0008130 MONDO:0015159 True ophthalmoplegia-intellectual disability-lingua scrotalis syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008132 MONDO:0020478 True optic atrophy with demyelinating disease of CNS Leber plus disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0008133 MONDO:0016387 True optic atrophy 3 mitochondrial oxidative phosphorylation disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008133 MONDO:0020250 True optic atrophy 3 autosomal dominant optic atrophy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008134 MONDO:0016387 True autosomal dominant optic atrophy, classic form mitochondrial oxidative phosphorylation disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008134 MONDO:0020250 True autosomal dominant optic atrophy, classic form autosomal dominant optic atrophy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008104 MONDO:0018997 True Noonan syndrome 1 Noonan syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0008106 MONDO:0005712 True nystagmus 2, congenital, autosomal dominant congenital nystagmus UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0008109 MONDO:0018746 True ocular cicatricial pemphigoid mucous membrane pemphigoid UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008114 MONDO:0005618 True obsessive-compulsive disorder anxiety disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0008115 MONDO:0015267 True Feingold syndrome type 1 Feingold syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0008123 MONDO:0017136 True autosomal dominant omodysplasia omodysplasia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0008125 MONDO:0019284 True nonsyndromic congenital nail disorder 5 inherited isolated nail anomaly UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS MONDO:0008135 MONDO:0043878 True optic atrophy 13 with retinal and foveal abnormalities hereditary optic atrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0008136 MONDO:0003847 True isolated optic nerve hypoplasia hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0008137 MONDO:0015375 True orofaciodigital syndrome X orofaciodigital syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0008139 MONDO:0019054 True OSLAM syndrome congenital limb malformation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008139 MONDO:0019060 True OSLAM syndrome bone neoplasm UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008142 MONDO:0018381 True Thiemann disease, familial form osteochondrosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008142 MONDO:0018383 True Thiemann disease, familial form osteonecrosis of genetic origin UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008145 MONDO:0018230 True Ollier disease skeletal dysplasia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008145 MONDO:0019060 True Ollier disease bone neoplasm UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008150 MONDO:0002081 True osteoglophonic dwarfism musculoskeletal system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0008150 MONDO:0003847 True osteoglophonic dwarfism hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0008152 MONDO:0019707 True multicentric carpo-tarsal osteolysis with or without nephropathy primary osteolysis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008153 MONDO:0021154 True progressive osseous heteroplasia dermis disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008155 MONDO:0017198 True osteomesopyknosis osteopetrosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008137 MONDO:0015375 True orofaciodigital syndrome X orofaciodigital syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0008145 MONDO:0019060 True Ollier disease bone neoplasm UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008156 MONDO:0020645 True autosomal dominant osteopetrosis 2 autosomal dominant osteopetrosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0008157 MONDO:0002254 True Buschke-Ollendorff syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0008161 MONDO:0016910 True otodental syndrome partial deletion of the long arm of chromosome 11 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008164 MONDO:0005349 True otosclerosis 1 otosclerosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0008165 MONDO:0020102 True southeast Asian ovalocytosis hereditary stomatocytosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008167 MONDO:0002378 True dermoid cyst of ovary dermoid cyst UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0008167 MONDO:0002378 True dermoid cyst of ovary dermoid cyst UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0008167 MONDO:0003281 True dermoid cyst of ovary ovarian cystic teratoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0008168 MONDO:0000646 True ovarian fibroma ovarian benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008168 MONDO:0005167 True ovarian fibroma fibroma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008170 MONDO:0001416 True ovarian cancer female reproductive organ cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0008170 MONDO:0001416 True ovarian cancer female reproductive organ cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0008170 MONDO:0021068 True ovarian cancer ovarian neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008171 MONDO:0005240 True nephrolithiasis kidney disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0008171 MONDO:0005240 True nephrolithiasis kidney disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0008171 MONDO:0024647 True nephrolithiasis urolithiasis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0008172 MONDO:0016620 True hypertrophic osteoarthropathy, primary, autosomal dominant primary hypertrophic osteoarthropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0008173 MONDO:0016471 True pachyonychia congenita 1 pachyonychia congenita UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0008174 MONDO:0016471 True pachyonychia congenita 2 pachyonychia congenita UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0008175 MONDO:0019707 True pacman dysplasia primary osteolysis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008176 MONDO:0005382 True Paget disease of bone 3 bone Paget disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0008176 MONDO:0005382 True Paget disease of bone 3 bone Paget disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS MONDO:0008177 MONDO:0021165 True extramammary Paget disease Paget disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008178 MONDO:0000507 True inclusion body myopathy with Paget disease of bone and frontotemporal dementia type 1 inclusion body myopathy with Paget disease of bone and frontotemporal dementia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0008179 MONDO:0003847 True paroxysmal extreme pain disorder hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0008182 MONDO:0015161 True nasopalpebral lipoma-coloboma syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008183 MONDO:0002356 True annular pancreas pancreas disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0008187 MONDO:0031240 True panic disorder 1 familial panic disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0008178 MONDO:0000507 True inclusion body myopathy with Paget disease of bone and frontotemporal dementia type 1 inclusion body myopathy with Paget disease of bone and frontotemporal dementia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS MONDO:0008192 MONDO:0000448 True paragangliomas 1 paraganglioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0008195 MONDO:0016120 True paramyotonia congenita of Von Eulenburg myotonic syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008195 MONDO:0019119 True paramyotonia congenita of Von Eulenburg muscular channelopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008196 MONDO:0018240 True parastremmatic dwarfism TRPV4-related bone disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008196 MONDO:0019698 True parastremmatic dwarfism bent bone dysplasia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008197 MONDO:0018953 True parietal foramina 1 parietal foramina UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0008198 MONDO:0018230 True parietal foramina with cleidocranial dysplasia skeletal dysplasia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008199 MONDO:0005180 True late-onset Parkinson disease Parkinson disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0008200 MONDO:0008199 True autosomal dominant Parkinson disease 1 late-onset Parkinson disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED -MONDO:0008201 MONDO:0002254 True Perry syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0008201 MONDO:0003847 True Perry syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0008205 MONDO:0018234 True patella aplasia/hypoplasia dysostosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008207 MONDO:0002342 True chondromalacia patellae chondromalacia UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0008209 MONDO:0011827 True Char syndrome patent ductus arteriosus UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED -MONDO:0008210 MONDO:0020381 True patterned macular dystrophy 1 patterned macular dystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0008214 MONDO:0000426 True Pelger-Huet anomaly autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0008215 MONDO:0016956 True adult-onset autosomal dominant demyelinating leukodystrophy partial trisomy of the long arm of chromosome 5 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008215 MONDO:0019046 True adult-onset autosomal dominant demyelinating leukodystrophy leukodystrophy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED -MONDO:0008217 MONDO:0018234 True pelvis-shoulder dysplasia dysostosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008217 MONDO:0019054 True pelvis-shoulder dysplasia congenital limb malformation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008218 MONDO:0006594 True Hailey-Hailey disease pemphigus UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0008218 MONDO:0019268 True Hailey-Hailey disease epidermal disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008219 MONDO:0006594 True pemphigus vulgaris pemphigus SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0008221 MONDO:0019232 True prolidase deficiency inborn disorder of peptide metabolism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008222 MONDO:0000995 True Andersen-Tawil syndrome familial periodic paralysis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0008222 MONDO:0019119 True Andersen-Tawil syndrome muscular channelopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008199 MONDO:0005180 True late-onset Parkinson disease Parkinson disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0008210 MONDO:0020381 True patterned macular dystrophy 1 patterned macular dystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0008218 MONDO:0006594 True Hailey-Hailey disease pemphigus UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0008219 MONDO:0006594 True pemphigus vulgaris pemphigus SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0008222 MONDO:0019171 True Andersen-Tawil syndrome familial long QT syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0008223 MONDO:0000995 True hypokalemic periodic paralysis familial periodic paralysis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0008224 MONDO:0000995 True hyperkalemic periodic paralysis familial periodic paralysis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0008227 MONDO:0019695 True peripheral dysostosis acromelic dysplasia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008228 MONDO:0006873 True pernicious anemia nutritional deficiency disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0008231 MONDO:0002036 True Peyronie disease penile disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0008234 MONDO:0000426 True multiple endocrine neoplasia type 2A autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0008234 MONDO:0019003 True multiple endocrine neoplasia type 2A multiple endocrine neoplasia type 2 UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008237 MONDO:0018234 True phocomelia-ectrodactyly-deafness-sinus arrhythmia syndrome dysostosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008237 MONDO:0019054 True phocomelia-ectrodactyly-deafness-sinus arrhythmia syndrome congenital limb malformation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008244 MONDO:0000426 True piebaldism autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0008244 MONDO:0019290 True piebaldism hypopigmentation of the skin UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008245 MONDO:0019290 True piebald trait-neurologic defects syndrome hypopigmentation of the skin UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008250 MONDO:0000050 True isolated growth hormone deficiency type II isolated congenital growth hormone deficiency UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0008259 MONDO:0002076 True familial spontaneous pneumothorax pneumothorax UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0008260 MONDO:0019276 True Kindler syndrome inherited epidermolysis bullosa UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008261 MONDO:0016382 True hereditary sclerosing poikiloderma, Weary type hereditary poikiloderma UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008262 MONDO:0015856 True Poland syndrome syndromic breast hypoplasia/aplasia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008262 MONDO:0019054 True Poland syndrome congenital limb malformation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008263 MONDO:0004691 True polycystic kidney disease 1 autosomal dominant polycystic kidney disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0008264 MONDO:0019741 True autosomal dominant medullary cystic kidney disease with or without hyperuricemia familial cystic renal disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008228 MONDO:0001700 True pernicious anemia megaloblastic anemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0008234 MONDO:0019003 True multiple endocrine neoplasia type 2A multiple endocrine neoplasia type 2 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008250 MONDO:0000050 True isolated growth hormone deficiency type II isolated congenital growth hormone deficiency UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0008262 MONDO:0002254 True Poland syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0008265 MONDO:0000447 True polycystic liver disease 1 autosomal dominant polycystic liver disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0008267 MONDO:0015375 True orofaciodigital syndrome V orofaciodigital syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0008267 MONDO:0015375 True orofaciodigital syndrome V orofaciodigital syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS MONDO:0008269 MONDO:0017425 True polydactyly of a biphalangeal thumb preaxial polydactyly of fingers UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0008270 MONDO:0017425 True polydactyly of a triphalangeal thumb preaxial polydactyly of fingers UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0008271 MONDO:0017425 True polydactyly of an index finger preaxial polydactyly of fingers UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0008272 MONDO:0017425 True polysyndactyly 4 preaxial polydactyly of fingers UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0008274 MONDO:0000845 True polyostotic fibrous dysplasia fibrous dysplasia UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008275 MONDO:0019707 True familial expansile osteolysis primary osteolysis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008276 MONDO:0000426 True generalized juvenile polyposis/juvenile polyposis coli autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0008276 MONDO:0017380 True generalized juvenile polyposis/juvenile polyposis coli juvenile polyposis syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008280 MONDO:0015185 True Peutz-Jeghers syndrome intestinal polyposis syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008283 MONDO:0004335 True Cronkhite-Canada syndrome digestive system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0008283 MONDO:0015185 True Cronkhite-Canada syndrome intestinal polyposis syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008283 MONDO:0019287 True Cronkhite-Canada syndrome ectodermal dysplasia syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS -MONDO:0008286 MONDO:0019054 True crossed polysyndactyly congenital limb malformation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008289 MONDO:0020496 True brain small vessel disease 1 with or without ocular anomalies familial porencephaly UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0008291 MONDO:0006602 True porokeratosis plantaris palmaris et disseminata porokeratosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0008292 MONDO:0017675 True punctate palmoplantar keratoderma type 2 punctate palmoplantar keratoderma UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0008294 MONDO:0002520 True acute intermittent porphyria hepatic porphyria UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0008294 MONDO:0019142 True acute intermittent porphyria inherited porphyria UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0008295 MONDO:0015104 True sporadic porphyria cutanea tarda porphyria cutanea tarda UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008296 MONDO:0015104 True familial porphyria cutanea tarda porphyria cutanea tarda UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008297 MONDO:0002520 True variegate porphyria hepatic porphyria UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0008297 MONDO:0019142 True variegate porphyria inherited porphyria UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0008298 MONDO:0018234 True postaxial tetramelic oligodactyly dysostosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008298 MONDO:0019054 True postaxial tetramelic oligodactyly congenital limb malformation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008300 MONDO:0002254 True Prader-Willi syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0008300 MONDO:0015770 True Prader-Willi syndrome congenital hypogonadotropic hypogonadism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008300 MONDO:0019040 True Prader-Willi syndrome chromosomal disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0008301 MONDO:0002254 True Guttmacher syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0008301 MONDO:0003847 True Guttmacher syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0008302 MONDO:0019165 True centra precocious puberty 1 central precocious puberty UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0008303 MONDO:0003847 True familial male-limited precocious puberty hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0008303 MONDO:0015791 True familial male-limited precocious puberty peripheral precocious puberty UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008305 MONDO:0002254 True Currarino triad syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0008305 MONDO:0018234 True Currarino triad dysostosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0008306 MONDO:0005620 True ABri amyloidosis cerebral amyloid angiopathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0008306 MONDO:0018591 True ABri amyloidosis ITM2B amyloidosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008310 MONDO:0002254 True Hutchinson-Gilford progeria syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0008310 MONDO:0019707 True Hutchinson-Gilford progeria syndrome primary osteolysis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008274 MONDO:0000845 True polyostotic fibrous dysplasia fibrous dysplasia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008277 MONDO:0004298 True stomach polyp stomach disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008277 MONDO:0005079 True stomach polyp polyp UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008283 MONDO:0004335 True Cronkhite-Canada syndrome digestive system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0008287 MONDO:0002254 True Greig cephalopolysyndactyly syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0008289 MONDO:0020496 True brain small vessel disease 1 with or without ocular anomalies familial porencephaly UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0008291 MONDO:0006602 True porokeratosis plantaris palmaris et disseminata porokeratosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0008294 MONDO:0019142 True acute intermittent porphyria inherited porphyria UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0008297 MONDO:0019142 True variegate porphyria inherited porphyria UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0008300 MONDO:0002254 True Prader-Willi syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0008302 MONDO:0019165 True centra precocious puberty 1 central precocious puberty UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0008310 MONDO:0002254 True Hutchinson-Gilford progeria syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0008310 MONDO:0020732 True Hutchinson-Gilford progeria syndrome progeria UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0008310 MONDO:0021106 True Hutchinson-Gilford progeria syndrome laminopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008312 MONDO:0015161 True autosomal dominant prognathism multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008315 MONDO:0005836 True prostate cancer male reproductive organ cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0008315 MONDO:0005836 True prostate cancer male reproductive organ cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0008315 MONDO:0021259 True prostate cancer prostate neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0008316 MONDO:0019145 True thrombophilia due to protein C deficiency, autosomal dominant hereditary thrombophilia due to congenital protein C deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0008318 MONDO:0002254 True Proteus syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0008318 MONDO:0017623 True Proteus syndrome PTEN hamartoma tumor syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0008318 MONDO:0018230 True Proteus syndrome skeletal dysplasia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008318 MONDO:0019716 True Proteus syndrome overgrowth syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008322 MONDO:0005516 True pseudoachondroplasia osteochondrodysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0008322 MONDO:0018230 True pseudoachondroplasia skeletal dysplasia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008323 MONDO:0006510 True Liddle syndrome renal tubular transport disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0008327 MONDO:0001554 True exfoliation syndrome phacogenic glaucoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0008327 MONDO:0002289 True exfoliation syndrome iris disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0008329 MONDO:0019161 True autosomal dominant pseudohypoaldosteronism type 1 pseudohypoaldosteronism type 1 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008332 MONDO:0000009 True platelet-type von Willebrand disease inherited bleeding disorder, platelet-type UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0008335 MONDO:0015161 True short stature-craniofacial anomalies-genital hypoplasia syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008338 MONDO:0000426 True contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0008338 MONDO:0019942 True contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A distal arthrogryposis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS +MONDO:0008318 MONDO:0002254 True Proteus syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0008323 MONDO:0002254 True Liddle syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0008327 MONDO:0002254 True exfoliation syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0008332 MONDO:0000009 True platelet-type von Willebrand disease inherited bleeding disorder, platelet-type UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS MONDO:0008338 MONDO:0020937 True contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A contractures, pterygia, and variable skeletal fusions syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0008339 MONDO:0021154 True antecubital pterygium syndrome dermis disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008340 MONDO:0000728 True ptosis, hereditary congenital, 1 ptosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0008343 MONDO:0016581 True pulmonary atresia with ventricular septal defect conotruncal heart malformations UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING -MONDO:0008346 MONDO:0001436 True pulmonary hemosiderosis hemosiderosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0008346 MONDO:0015926 True pulmonary hemosiderosis pneumoconiosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0008340 MONDO:0000728 True ptosis, hereditary congenital, 1 ptosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0008355 MONDO:0100239 True pyloric stenosis, infantile hypertrophic, 1 inherited hypertrophic pyloric stenosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0008357 MONDO:0015161 True radial hypoplasia-triphalangeal thumbs-hypospadias-maxillary diastema syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008359 MONDO:0018234 True radio-renal syndrome dysostosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008359 MONDO:0019054 True radio-renal syndrome congenital limb malformation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008364 MONDO:0005294 True Raynaud disease peripheral vascular disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0008368 MONDO:0015827 True autosomal dominant distal renal tubular acidosis distal renal tubular acidosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0008371 MONDO:0017747 True Dowling-Degos disease disorder of fucoglycosan synthesis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008371 MONDO:0019289 True Dowling-Degos disease hyperpigmentation of the skin UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008373 MONDO:0000473 True retinal arterial tortuosity arterial disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0008373 MONDO:0003847 True retinal arterial tortuosity hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0008374 MONDO:0000455 True retinal cone dystrophy type 1 cone dystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0008375 MONDO:0005283 True retinal detachment retinal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0008377 MONDO:0019200 True retinitis pigmentosa 1 retinitis pigmentosa UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0008378 MONDO:0019200 True retinitis pigmentosa 9 retinitis pigmentosa UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0008379 MONDO:0019200 True retinitis pigmentosa 10 retinitis pigmentosa UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0008380 MONDO:0004338 True retinoblastoma retinal cell cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0008381 MONDO:0019200 True dominant pericentral pigmentary retinopathy retinitis pigmentosa UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED -MONDO:0008383 MONDO:0000589 True rheumatoid arthritis autoimmune disorder of musculoskeletal system UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0008383 MONDO:0005578 True rheumatoid arthritis arthritic joint disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0008386 MONDO:0019187 True Axenfeld-Rieger syndrome type 1 Axenfeld-Rieger syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0008387 MONDO:0003847 True ring dermoid of cornea hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0008388 MONDO:0019278 True ringed hair disease hair anomaly UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008389 MONDO:0019978 True autosomal dominant Robinow syndrome Robinow syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008393 MONDO:0019188 True Rubinstein-Taybi syndrome due to CREBBP mutations Rubinstein-Taybi syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0008397 MONDO:0002254 True aplasia of lacrimal and salivary glands syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0008397 MONDO:0003847 True aplasia of lacrimal and salivary glands hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0008401 MONDO:0000385 True pleomorphic adenoma benign digestive system neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0008401 MONDO:0017168 True pleomorphic adenoma benign epithelial tumor of salivary glands UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008364 MONDO:0005294 True Raynaud disease peripheral vascular disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0008368 MONDO:0015827 True autosomal dominant distal renal tubular acidosis distal renal tubular acidosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0008375 MONDO:0005283 True retinal detachment retinal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0008377 MONDO:0019200 True retinitis pigmentosa 1 retinitis pigmentosa UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0008378 MONDO:0019200 True retinitis pigmentosa 9 retinitis pigmentosa UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0008379 MONDO:0019200 True retinitis pigmentosa 10 retinitis pigmentosa UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0008383 MONDO:0005554 True rheumatoid arthritis rheumatic disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0008383 MONDO:0005578 True rheumatoid arthritis arthritic joint disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0008386 MONDO:0019187 True Axenfeld-Rieger syndrome type 1 Axenfeld-Rieger syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0008393 MONDO:0019188 True Rubinstein-Taybi syndrome due to CREBBP mutations Rubinstein-Taybi syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0008394 MONDO:0002254 True Silver-Russell syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0008401 MONDO:0021043 True pleomorphic adenoma mixed neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008403 MONDO:0019054 True scalp defects-postaxial polydactyly syndrome congenital limb malformation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008403 MONDO:0019294 True scalp defects-postaxial polydactyly syndrome mixed dermis disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008404 MONDO:0015161 True scalp-ear-nipple syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008404 MONDO:0019287 True scalp-ear-nipple syndrome ectodermal dysplasia syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED -MONDO:0008404 MONDO:0019294 True scalp-ear-nipple syndrome mixed dermis disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008407 MONDO:0016187 True neurogenic scapuloperoneal syndrome, Kaeser type qualitative or quantitative defects of desmin UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008407 MONDO:0024257 True neurogenic scapuloperoneal syndrome, Kaeser type hereditary motor neuron disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008408 MONDO:0000426 True scapuloperoneal spinal muscular atrophy, autosomal dominant autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0008408 MONDO:0024257 True scapuloperoneal spinal muscular atrophy, autosomal dominant hereditary motor neuron disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008409 MONDO:0016195 True congenital myopathy 7A, myosin storage, autosomal dominant qualitative or quantitative defects of beta-myosin heavy chain (MYH7) UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008409 MONDO:0019952 True congenital myopathy 7A, myosin storage, autosomal dominant congenital myopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0008410 MONDO:0018381 True Scheuermann disease osteochondrosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0008411 MONDO:0002254 True ulnar-mammary syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0008412 MONDO:0015254 True intestinal schistosomiasis schistosomiasis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0008414 MONDO:0005090 True schizophrenia 1 schizophrenia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED -MONDO:0008416 MONDO:0017666 True palmoplantar keratoderma-sclerodactyly syndrome diffuse palmoplantar keratoderma UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008420 MONDO:0006566 True seborrheic keratosis keratosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0008421 MONDO:0015161 True flat face-microstomia-ear anomaly syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008422 MONDO:0000426 True autosomal dominant sideroblastic anemia autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0008410 MONDO:0018381 True Scheuermann disease osteochondrosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0008422 MONDO:0020099 True autosomal dominant sideroblastic anemia inherited sideroblastic anemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0008425 MONDO:0015159 True omphalocele syndrome, Shprintzen-Goldberg type multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008426 MONDO:0015159 True Shprintzen-Goldberg syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008426 MONDO:0015338 True Shprintzen-Goldberg syndrome syndromic craniosynostosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008426 MONDO:0017310 True Shprintzen-Goldberg syndrome Marfan and Marfan-related disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008428 MONDO:0000429 True septooptic dysplasia autosomal genetic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0008428 MONDO:0002254 True septooptic dysplasia syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0008428 MONDO:0002254 True septooptic dysplasia syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0008428 MONDO:0013099 True septooptic dysplasia combined pituitary hormone deficiencies, genetic form UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0008433 MONDO:0000402 True small cell lung carcinoma small cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0008433 MONDO:0005138 True small cell lung carcinoma lung carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0008433 MONDO:0005138 True small cell lung carcinoma lung carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0008433 MONDO:0005454 True small cell lung carcinoma lung neuroendocrine neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0008434 MONDO:0000761 True Smith-Magenis syndrome syndrome caused by partial chromosomal deletion UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0008434 MONDO:0003847 True Smith-Magenis syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0008434 MONDO:0015159 True Smith-Magenis syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008436 MONDO:0000473 True Sneddon syndrome arterial disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0008437 MONDO:0019064 True hereditary spastic paraplegia 3A hereditary spastic paraplegia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0008438 MONDO:0019064 True hereditary spastic paraplegia 4 hereditary spastic paraplegia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0008440 MONDO:0015087 True spastic paraplegia-nephritis-deafness syndrome autosomal dominant complex spastic paraplegia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008442 MONDO:0015087 True spastic paraplegia-neuropathy-poikiloderma syndrome autosomal dominant complex spastic paraplegia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008443 MONDO:0015087 True spastic paraplegia-precocious puberty syndrome autosomal dominant complex spastic paraplegia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008445 MONDO:0015159 True delayed speech-facial asymmetry-strabismus-ear lobe creases syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008447 MONDO:0019350 True hereditary spherocytosis type 1 hereditary spherocytosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0008451 MONDO:0015362 True neuronopathy, distal hereditary motor, autosomal dominant 1 neuronopathy, distal hereditary motor, autosomal dominant UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0008453 MONDO:0001516 True adult-onset proximal spinal muscular atrophy, autosomal dominant spinal muscular atrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0008453 MONDO:0024257 True adult-onset proximal spinal muscular atrophy, autosomal dominant hereditary motor neuron disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008457 MONDO:0019793 True spinocerebellar ataxia type 6 autosomal dominant cerebellar ataxia type III UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008437 MONDO:0019064 True hereditary spastic paraplegia 3A hereditary spastic paraplegia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0008438 MONDO:0019064 True hereditary spastic paraplegia 4 hereditary spastic paraplegia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0008449 MONDO:0002320 True spina bifida congenital nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0008450 MONDO:0015304 True spinal arachnoiditis arachnoiditis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008451 MONDO:0015626 True neuronopathy, distal hereditary motor, autosomal dominant 1 Charcot-Marie-Tooth disease UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS MONDO:0008458 MONDO:0005144 True spinocerebellar ataxia type 2 familial amyotrophic lateral sclerosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0008458 MONDO:0015548 True spinocerebellar ataxia type 2 Huntington disease-like syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008458 MONDO:0019792 True spinocerebellar ataxia type 2 autosomal dominant cerebellar ataxia type I UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008460 MONDO:0018234 True splenogonadal fusion-limb defects-micrognathia syndrome dysostosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008460 MONDO:0019054 True splenogonadal fusion-limb defects-micrognathia syndrome congenital limb malformation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008464 MONDO:0016576 True split hand-foot malformation 1 split hand-foot malformation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0008465 MONDO:0018237 True Patterson-Stevenson-Fontaine syndrome acrofacial dysostosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008466 MONDO:0018234 True Karsch-Neugebauer syndrome dysostosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008466 MONDO:0019054 True Karsch-Neugebauer syndrome congenital limb malformation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008467 MONDO:0015161 True Czeizel-Losonci syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008464 MONDO:0016576 True split hand-foot malformation 1 split hand-foot malformation UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS MONDO:0008468 MONDO:0024512 True spondyloarthropathy, susceptibility to, 2 spondyloarthropathy, susceptibility to UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0008470 MONDO:0016761 True spondyloepiphyseal dysplasia with punctate corneal dystrophy spondyloepiphyseal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0008471 MONDO:0016761 True spondyloepiphyseal dysplasia congenita spondyloepiphyseal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0008471 MONDO:0022800 True spondyloepiphyseal dysplasia congenita type 2 collagenopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008473 MONDO:0018240 True spondyloepimetaphyseal dysplasia, Maroteaux type TRPV4-related bone disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008474 MONDO:0000426 True spondyloepiphyseal dysplasia tarda, autosomal dominant autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0008474 MONDO:0019667 True spondyloepiphyseal dysplasia tarda, autosomal dominant spondyloepiphyseal dysplasia tarda UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0008475 MONDO:0000836 True spondylolisthesis disease of bone structure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0008476 MONDO:0016763 True spondyloepimetaphyseal dysplasia, Strudwick type spondylometaphyseal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0008476 MONDO:0022800 True spondyloepimetaphyseal dysplasia, Strudwick type type 2 collagenopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008476 MONDO:0100510 True spondyloepimetaphyseal dysplasia, Strudwick type spondyloepimetaphyseal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0008477 MONDO:0016763 True spondylometaphyseal dysplasia, Kozlowski type spondylometaphyseal dysplasia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0008477 MONDO:0018240 True spondylometaphyseal dysplasia, Kozlowski type TRPV4-related bone disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008478 MONDO:0016763 True spondylometaphyseal dysplasia, Schmidt type spondylometaphyseal dysplasia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED -MONDO:0008478 MONDO:0022800 True spondylometaphyseal dysplasia, Schmidt type type 2 collagenopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008479 MONDO:0016763 True spondylometaphyseal dysplasia, 'corner fracture' type spondylometaphyseal dysplasia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0008479 MONDO:0022800 True spondylometaphyseal dysplasia, 'corner fracture' type type 2 collagenopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008482 MONDO:0015929 True Sprengel deformity thoracic malformation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008477 MONDO:0016763 True spondylometaphyseal dysplasia, Kozlowski type spondylometaphyseal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0008479 MONDO:0016763 True spondylometaphyseal dysplasia, 'corner fracture' type spondylometaphyseal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS MONDO:0008483 MONDO:0000723 True stuttering, familial persistent, 1 stutter disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0008485 MONDO:0006607 True sebocystomatosis sebaceous gland disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0008487 MONDO:0005151 True polycystic ovary syndrome endocrine system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0008488 MONDO:0015159 True holoprosencephaly-radial heart renal anomalies syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008487 MONDO:0002254 True polycystic ovary syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0008490 MONDO:0008975 True otospondylomegaepiphyseal dysplasia, autosomal dominant otospondylomegaepiphyseal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0008490 MONDO:0015161 True otospondylomegaepiphyseal dysplasia, autosomal dominant multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008491 MONDO:0005071 True stiff-person syndrome nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0008493 MONDO:0020102 True overhydrated hereditary stomatocytosis hereditary stomatocytosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008494 MONDO:0020102 True cryohydrocytosis hereditary stomatocytosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008495 MONDO:0018795 True platelet storage pool deficiency syndromic constitutional thrombocytopenia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008497 MONDO:0018795 True Stormorken syndrome syndromic constitutional thrombocytopenia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008504 MONDO:0042981 True supravalvular aortic stenosis aortic valve stenosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0008510 MONDO:0019054 True symphalangism with multiple anomalies of hands and feet congenital limb malformation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008511 MONDO:0000426 True proximal symphalangism autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0008511 MONDO:0019054 True proximal symphalangism congenital limb malformation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008512 MONDO:0019530 True syndactyly type 1 non-syndromic syndactyly UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008514 MONDO:0019530 True syndactyly type 3 non-syndromic syndactyly UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008515 MONDO:0019530 True syndactyly type 4 non-syndromic syndactyly UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008516 MONDO:0019530 True syndactyly type 5 non-syndromic syndactyly UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008518 MONDO:0001411 True calcaneonavicular coalition synostosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0008519 MONDO:0017923 True multiple synostoses syndrome 1 multiple synostoses syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0008521 MONDO:0019054 True tarsal-carpal coalition syndrome congenital limb malformation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008534 MONDO:0019293 True generalized essential telangiectasia skin vascular disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008491 MONDO:0002254 True stiff-person syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0008501 MONDO:0003847 True Sturge-Weber syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0008501 MONDO:0042983 True Sturge-Weber syndrome neurocutaneous syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008519 MONDO:0017923 True multiple synostoses syndrome 1 multiple synostoses syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0008523 MONDO:0007179 True Blau syndrome autoimmune disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS MONDO:0008535 MONDO:0019180 True telangiectasia, hereditary hemorrhagic, type 1 hereditary hemorrhagic telangiectasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0008538 MONDO:0003346 True temporal arteritis central nervous system vasculitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0008540 MONDO:0019054 True extensor tendons of finger anomalies congenital limb malformation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008541 MONDO:0002329 True spermatic cord torsion testicular disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0008542 MONDO:0005453 True tetralogy of fallot congenital heart disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0008542 MONDO:0016581 True tetralogy of fallot conotruncal heart malformations UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING -MONDO:0008544 MONDO:0018234 True tetramelic monodactyly dysostosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008544 MONDO:0019054 True tetramelic monodactyly congenital limb malformation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008546 MONDO:0017042 True thanatophoric dysplasia type 1 thanatophoric dysplasia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008547 MONDO:0017042 True thanatophoric dysplasia type 2 thanatophoric dysplasia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008551 MONDO:0015929 True thoracolaryngopelvic dysplasia thoracic malformation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008551 MONDO:0019691 True thoracolaryngopelvic dysplasia short rib dysplasia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008552 MONDO:0000009 True platelet-type bleeding disorder 16 inherited bleeding disorder, platelet-type UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0008553 MONDO:0000009 True platelet-type bleeding disorder 17 inherited bleeding disorder, platelet-type UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0008538 MONDO:0002341 True temporal arteritis granulomatous angiitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0008541 MONDO:0002329 True spermatic cord torsion testicular disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0008542 MONDO:0005453 True tetralogy of fallot congenital heart disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0008546 MONDO:0017042 True thanatophoric dysplasia type 1 thanatophoric dysplasia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008547 MONDO:0017042 True thanatophoric dysplasia type 2 thanatophoric dysplasia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008552 MONDO:0000009 True platelet-type bleeding disorder 16 inherited bleeding disorder, platelet-type UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0008553 MONDO:0000009 True platelet-type bleeding disorder 17 inherited bleeding disorder, platelet-type UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS MONDO:0008554 MONDO:0019111 True thrombocythemia 1 familial thrombocytosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0008555 MONDO:0100241 True thrombocytopenia 2 inherited thrombocytopenia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0008557 MONDO:0016910 True Paris-Trousseau thrombocytopenia partial deletion of the long arm of chromosome 11 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008557 MONDO:0020117 True Paris-Trousseau thrombocytopenia alpha granule disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008558 MONDO:0004680 True autoimmune thrombocytopenic purpura primary thrombocytopenia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0008558 MONDO:0019098 True autoimmune thrombocytopenic purpura autoimmune thrombocytopenia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008558 MONDO:0043768 True autoimmune thrombocytopenic purpura thrombocytopenic purpura UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008559 MONDO:0100240 True thrombophilia due to thrombin defect inherited thrombophilia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0008560 MONDO:0100240 True thrombophilia due to activated protein C resistance inherited thrombophilia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0008562 MONDO:0019054 True thumb deformity-alopecia-pigmentation anomaly syndrome congenital limb malformation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008563 MONDO:0019054 True thumb stiffness-brachydactyly-intellectual disability syndrome congenital limb malformation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008565 MONDO:0015476 True familial thyroglossal duct cyst cysts and fistulae of the face and oral cavity UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008564 MONDO:0001222 True DiGeorge syndrome congenital T-cell immunodeficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0008567 MONDO:0017896 True thyroid cancer, nonmedullary, 1 familial nonmedullary thyroid carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0008572 MONDO:0018234 True tibia, hypoplasia or aplasia of, with polydactyly dysostosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0008572 MONDO:0019054 True tibia, hypoplasia or aplasia of, with polydactyly congenital limb malformation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008582 MONDO:0019287 True tooth and nail syndrome ectodermal dysplasia syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0008575 MONDO:0005303 True nicotine dependence drug dependence UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0008582 MONDO:0019287 True tooth and nail syndrome ectodermal dysplasia syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS MONDO:0008583 MONDO:0005031 True inherited torticollis fibromatosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008585 MONDO:0001641 True HELLP syndrome severe pre-eclampsia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0008590 MONDO:0003233 True tremor, hereditary essential, 1 essential tremor UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0008592 MONDO:0018230 True tricho-dento-osseous syndrome skeletal dysplasia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008592 MONDO:0019287 True tricho-dento-osseous syndrome ectodermal dysplasia syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS -MONDO:0008596 MONDO:0000426 True trichorhinophalangeal syndrome type I autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0008585 MONDO:0002254 True HELLP syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0008590 MONDO:0003233 True tremor, hereditary essential, 1 essential tremor UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS MONDO:0008596 MONDO:0017951 True trichorhinophalangeal syndrome type I trichorhinophalangeal syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0008597 MONDO:0000426 True trichorhinophalangeal syndrome, type III autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0008597 MONDO:0017951 True trichorhinophalangeal syndrome, type III trichorhinophalangeal syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0008598 MONDO:0019278 True trichodysplasia-xeroderma syndrome hair anomaly UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008599 MONDO:0003543 True trigeminal neuralgia trigeminal nerve disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0008599 MONDO:0016374 True trigeminal neuralgia cranial neuralgia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008603 MONDO:0018065 True trigonocephaly 1 isolated trigonocephaly UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0008607 MONDO:0019054 True triphalangeal thumbs-brachyectrodactyly syndrome congenital limb malformation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008610 MONDO:0001703 True blue color blindness color vision disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0008610 MONDO:0003847 True blue color blindness hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0008611 MONDO:0018234 True humerus trochlea aplasia dysostosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008611 MONDO:0019054 True humerus trochlea aplasia congenital limb malformation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008612 MONDO:0001734 True tuberous sclerosis 1 tuberous sclerosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0008617 MONDO:0005265 True inflammatory bowel disease 11 inflammatory bowel disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0008618 MONDO:0018230 True mesomelic dwarfism, Reinhardt-Pfeiffer type skeletal dysplasia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008619 MONDO:0018230 True ulna metaphyseal dysplasia syndrome skeletal dysplasia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008620 MONDO:0018230 True upper limb mesomelic dysplasia skeletal dysplasia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008621 MONDO:0019278 True uncombable hair syndrome hair anomaly UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008622 MONDO:0019287 True tricho-retino-dento-digital syndrome ectodermal dysplasia syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING -MONDO:0008627 MONDO:0006295 True ureter cancer malignant urinary system neoplasm SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0008612 MONDO:0001734 True tuberous sclerosis 1 tuberous sclerosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0008617 MONDO:0005265 True inflammatory bowel disease 11 inflammatory bowel disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0008627 MONDO:0006295 True ureter cancer malignant urinary system neoplasm SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0008627 MONDO:0021111 True ureter cancer ureter neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008628 MONDO:0001926 True ureterocele ureteral disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0008633 MONDO:0000426 True Muckle-Wells syndrome autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0008633 MONDO:0016168 True Muckle-Wells syndrome cryopyrin-associated periodic syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008637 MONDO:0016064 True bifid uvula cleft palate UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008638 MONDO:0004634 True varicose disease vein disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0008642 MONDO:0002254 True VACTERL/vater association syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0008645 MONDO:0015161 True ventricular extrasystoles with syncopal episodes-perodactyly-robin sequence syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008647 MONDO:0024573 True hypertrophic cardiomyopathy 1 familial hypertrophic cardiomyopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0008650 MONDO:0015161 True posterior fusion of lumbosacral vertebrae-blepharoptosis syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008652 MONDO:0003847 True congenital vertical talus hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0008652 MONDO:0017427 True congenital vertical talus congenital deformities of limbs UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008628 MONDO:0001926 True ureterocele ureteral disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0008642 MONDO:0002254 True VACTERL/vater association syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0008647 MONDO:0024573 True hypertrophic cardiomyopathy 1 familial hypertrophic cardiomyopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS MONDO:0008653 MONDO:0017329 True vesicoureteral reflux 1 familial vesicoureteral reflux UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0008659 MONDO:0019220 True transcobalamin I deficiency inborn disorder of cobalamin metabolism and transport UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008660 MONDO:0000044 True autosomal dominant hypophosphatemic rickets hereditary hypophosphatemic rickets UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0008660 MONDO:0000426 True autosomal dominant hypophosphatemic rickets autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0008661 MONDO:0007179 True vitiligo autoimmune disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0008668 MONDO:0019565 True von Willebrand disease 1 hereditary von Willebrand disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0008670 MONDO:0018094 True Waardenburg syndrome type 1 Waardenburg syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0008673 MONDO:0015161 True acrofacial dysostosis, Weyers type multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008673 MONDO:0018237 True acrofacial dysostosis, Weyers type acrofacial dysostosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0008673 MONDO:0019287 True acrofacial dysostosis, Weyers type ectodermal dysplasia syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS -MONDO:0008675 MONDO:0015161 True Freeman-Sheldon syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008675 MONDO:0019942 True Freeman-Sheldon syndrome distal arthrogryposis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0008676 MONDO:0015748 True white sponge nevus 1 hereditary mucosal leukokeratosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0008678 MONDO:0002254 True Williams syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0008678 MONDO:0016906 True Williams syndrome partial deletion of the long arm of chromosome 7 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008654 MONDO:0005712 True spinocerebellar ataxia 27A congenital nystagmus UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0008660 MONDO:0000044 True autosomal dominant hypophosphatemic rickets hereditary hypophosphatemic rickets UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0008661 MONDO:0002406 True vitiligo dermatitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0008667 MONDO:0042983 True von Hippel-Lindau disease neurocutaneous syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008670 MONDO:0018094 True Waardenburg syndrome type 1 Waardenburg syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0008671 MONDO:0019517 True Waardenburg syndrome type 2A Waardenburg syndrome type 2 UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008675 MONDO:0002254 True Freeman-Sheldon syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0008675 MONDO:0008779 True Freeman-Sheldon syndrome arthrogryposis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008675 MONDO:0019942 True Freeman-Sheldon syndrome distal arthrogryposis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0008676 MONDO:0015748 True white sponge nevus 1 hereditary mucosal leukokeratosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0008678 MONDO:0002254 True Williams syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0008679 MONDO:0003321 True Wilms tumor 1 hereditary Wilms tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0008680 MONDO:0003321 True Wilms tumor 2 hereditary Wilms tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0008681 MONDO:0015356 True WAGR syndrome hereditary neoplastic syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008681 MONDO:0016893 True WAGR syndrome partial deletion of the short arm of chromosome 11 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008681 MONDO:0020040 True WAGR syndrome 46,XY disorder of sex development UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008682 MONDO:0000426 True Denys-Drash syndrome autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0008682 MONDO:0002254 True Denys-Drash syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0008682 MONDO:0020040 True Denys-Drash syndrome 46,XY disorder of sex development UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008681 MONDO:0015356 True WAGR syndrome hereditary neoplastic syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008682 MONDO:0002254 True Denys-Drash syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0008683 MONDO:0003321 True Wilms tumor 3 hereditary Wilms tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0008684 MONDO:0015159 True Wolf-Hirschhorn syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008684 MONDO:0022762 True Wolf-Hirschhorn syndrome chromosome 4 short arm deletion UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008685 MONDO:0000992 True Wolff-Parkinson-White syndrome heart conduction disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0008686 MONDO:0019278 True isolated familial wooly hair disorder hair anomaly UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008688 MONDO:0001713 True WT limb-blood syndrome inherited aplastic anemia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008689 MONDO:0017910 True dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema dehydrated hereditary stomatocytosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0008692 MONDO:0017774 True abetalipoproteinemia hypobetalipoproteinemia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0008692 MONDO:0020044 True abetalipoproteinemia autosomal recessive metabolic cerebellar ataxia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008692 MONDO:0020127 True abetalipoproteinemia hereditary peripheral neuropathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008693 MONDO:0002254 True ablepharon macrostomia syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0008693 MONDO:0003847 True ablepharon macrostomia syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0008694 MONDO:0015159 True pseudoprogeria syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008695 MONDO:0016987 True chorea-acanthocytosis neuroacanthocytosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0008695 MONDO:0019268 True chorea-acanthocytosis epidermal disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008695 MONDO:0020127 True chorea-acanthocytosis hereditary peripheral neuropathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008696 MONDO:0019268 True acanthosis nigricans-insulin resistance-muscle cramps-acral enlargement syndrome epidermal disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008698 MONDO:0003749 True achalasia esophageal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0008699 MONDO:0006025 True achalasia microcephaly syndrome autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0008700 MONDO:0005516 True acheiropody osteochondrodysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0008700 MONDO:0019713 True acheiropody non-syndromic limb reduction defect UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008701 MONDO:0019648 True achondrogenesis type IA achondrogenesis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0008702 MONDO:0019648 True achondrogenesis type II achondrogenesis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0008702 MONDO:0022800 True achondrogenesis type II type 2 collagenopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008703 MONDO:0019696 True acromesomelic dysplasia 2A acromesomelic dysplasia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0008704 MONDO:0017855 True short-limb skeletal dysplasia with severe combined immunodeficiency T-B- severe combined immunodeficiency UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008705 MONDO:0002561 True lysosomal acid phosphatase deficiency lysosomal storage disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008706 MONDO:0015161 True Ackerman syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008706 MONDO:0019287 True Ackerman syndrome ectodermal dysplasia syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING -MONDO:0008707 MONDO:0015161 True acro-renal-mandibular syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008708 MONDO:0002254 True acrocallosal syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0008708 MONDO:0015159 True acrocallosal syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008709 MONDO:0015338 True acrocephalopolydactyly syndromic craniosynostosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008684 MONDO:0002254 True Wolf-Hirschhorn syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0008701 MONDO:0019648 True achondrogenesis type IA achondrogenesis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0008702 MONDO:0019648 True achondrogenesis type II achondrogenesis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0008703 MONDO:0019648 True acromesomelic dysplasia 2A achondrogenesis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS +MONDO:0008703 MONDO:0019696 True acromesomelic dysplasia 2A acromesomelic dysplasia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0008708 MONDO:0002254 True acrocallosal syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0008710 MONDO:0019012 True RAB23-related Carpenter syndrome Carpenter syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0008712 MONDO:0015161 True acrocraniofacial dysostosis multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008712 MONDO:0018237 True acrocraniofacial dysostosis acrofacial dysostosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008713 MONDO:0004689 True acrodermatitis enteropathica inborn metal metabolism disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0008713 MONDO:0017764 True acrodermatitis enteropathica disorder of zinc metabolism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008714 MONDO:0015159 True acrofacial dysostosis Rodriguez type multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008714 MONDO:0018237 True acrofacial dysostosis Rodriguez type acrofacial dysostosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0008715 MONDO:0018237 True acrofrontofacionasal dysostosis acrofacial dysostosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0008716 MONDO:0019303 True acrogeria premature aging syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008717 MONDO:0019696 True acromesomelic dysplasia 2C, Hunter-Thompson type acromesomelic dysplasia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0008718 MONDO:0019119 True Morvan syndrome muscular channelopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008721 MONDO:0017714 True medium chain acyl-CoA dehydrogenase deficiency acyl-CoA dehydrogenase deficiency UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008722 MONDO:0017714 True short chain acyl-CoA dehydrogenase deficiency acyl-CoA dehydrogenase deficiency UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008723 MONDO:0017713 True very long chain acyl-CoA dehydrogenase deficiency disorder of fatty acid oxidation and ketogenesis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008724 MONDO:0015168 True adducted thumbs-arthrogryposis syndrome, Christian type arthrogryposis multiplex congenita UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING -MONDO:0008725 MONDO:0018479 True congenital lipoid adrenal hyperplasia due to STAR deficency congenital adrenal hyperplasia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008725 MONDO:0019852 True congenital lipoid adrenal hyperplasia due to STAR deficency inherited primary ovarian failure UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING -MONDO:0008726 MONDO:0008803 True Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis Antley-Bixler syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008727 MONDO:0018479 True congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency congenital adrenal hyperplasia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008728 MONDO:0018479 True classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency congenital adrenal hyperplasia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008729 MONDO:0018479 True congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency congenital adrenal hyperplasia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008730 MONDO:0018479 True congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency congenital adrenal hyperplasia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008731 MONDO:0015129 True familial adrenal hypoplasia with absent pituitary luteinizing hormone chronic primary adrenal insufficiency UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING -MONDO:0008731 MONDO:0015770 True familial adrenal hypoplasia with absent pituitary luteinizing hormone congenital hypogonadotropic hypogonadism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008731 MONDO:0020040 True familial adrenal hypoplasia with absent pituitary luteinizing hormone 46,XY disorder of sex development UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008733 MONDO:0015129 True familial glucocorticoid deficiency chronic primary adrenal insufficiency UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS -MONDO:0008740 MONDO:0015159 True agnathia-otocephaly complex multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008741 MONDO:0015161 True PAGOD syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008741 MONDO:0020040 True PAGOD syndrome 46,XY disorder of sex development UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008742 MONDO:0000426 True autosomal dominant severe congenital neutropenia autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0008742 MONDO:0018542 True autosomal dominant severe congenital neutropenia severe congenital neutropenia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0008743 MONDO:0015159 True Stimmler syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008744 MONDO:0015161 True alar cartilages hypoplasia-coloboma-telecanthus syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008745 MONDO:0018135 True oculocutaneous albinism type 1A oculocutaneous albinism type 1 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008746 MONDO:0018910 True oculocutaneous albinism type 2 oculocutaneous albinism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0008747 MONDO:0018910 True oculocutaneous albinism type 3 oculocutaneous albinism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0008749 MONDO:0019992 True pseudohypoparathyroidism type 2 pseudohypoparathyroidism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008750 MONDO:0015161 True microcephaly-albinism-digital anomalies syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008752 MONDO:0019046 True Alexander disease leukodystrophy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED -MONDO:0008753 MONDO:0017307 True alkaptonuria disorder of tyrosine metabolism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008754 MONDO:0019287 True alopecia - contractures - dwarfism - intellectual disability syndrome ectodermal dysplasia syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING -MONDO:0008755 MONDO:0015650 True Moynahan syndrome epilepsy syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008755 MONDO:0019289 True Moynahan syndrome hyperpigmentation of the skin UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008756 MONDO:0002254 True alopecia - intellectual disability syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0008717 MONDO:0019696 True acromesomelic dysplasia 2C, Hunter-Thompson type acromesomelic dysplasia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0008742 MONDO:0018542 True autosomal dominant severe congenital neutropenia severe congenital neutropenia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0008746 MONDO:0018910 True oculocutaneous albinism type 2 oculocutaneous albinism UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0008747 MONDO:0018910 True oculocutaneous albinism type 3 oculocutaneous albinism UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0008752 MONDO:0019046 True Alexander disease leukodystrophy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS MONDO:0008757 MONDO:0000005 True alopecia universalis congenita alopecia, isolated UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0008758 MONDO:0020127 True mitochondrial DNA depletion syndrome 4a hereditary peripheral neuropathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008758 MONDO:0024237 True mitochondrial DNA depletion syndrome 4a inherited neurodegenerative disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008758 MONDO:0100512 True mitochondrial DNA depletion syndrome 4a mitochondrial DNA depletion syndrome, hepatocerebral form UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008759 MONDO:0016790 True oxoglutaricaciduria tricarboxylic acid cycle disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008759 MONDO:0020127 True oxoglutaricaciduria hereditary peripheral neuropathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008760 MONDO:0006025 True beta-ketothiolase deficiency autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0008760 MONDO:0019215 True beta-ketothiolase deficiency classic organic aciduria UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008760 MONDO:0019229 True beta-ketothiolase deficiency inborn disorder of ketolysis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008762 MONDO:0006025 True autosomal recessive Alport syndrome autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0008762 MONDO:0018965 True autosomal recessive Alport syndrome Alport syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0008763 MONDO:0002254 True Alstrom syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0008763 MONDO:0005308 True Alstrom syndrome ciliopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0008763 MONDO:0006025 True Alstrom syndrome autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0008764 MONDO:0018998 True Leber congenital amaurosis 1 Leber congenital amaurosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0008765 MONDO:0018998 True Leber congenital amaurosis 2 Leber congenital amaurosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0008766 MONDO:0019118 True amaurosis-hypertrichosis syndrome inherited retinal dystrophy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008767 MONDO:0019262 True neuronal ceroid lipofuscinosis 3 juvenile neuronal ceroid lipofuscinosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008768 MONDO:0019260 True ceroid lipofuscinosis, neuronal, 6B (Kufs type) adult neuronal ceroid lipofuscinosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008769 MONDO:0015674 True neuronal ceroid lipofuscinosis 2 late infantile neuronal ceroid lipofuscinosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008769 MONDO:0019262 True neuronal ceroid lipofuscinosis 2 juvenile neuronal ceroid lipofuscinosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008771 MONDO:0019507 True amelogenesis imperfecta type 1G amelogenesis imperfecta UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0008774 MONDO:0017351 True 2-aminoadipic 2-oxoadipic aciduria inborn disorder of lysine and hydroxylysine metabolism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008777 MONDO:0000763 True gelatinous drop-like corneal dystrophy epithelial and subepithelial corneal dystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0008777 MONDO:0003847 True gelatinous drop-like corneal dystrophy hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0008777 MONDO:0020212 True gelatinous drop-like corneal dystrophy superficial corneal dystrophy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008783 MONDO:0001822 True Tangier disease hypolipoproteinemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0008783 MONDO:0017773 True Tangier disease hypoalphalipoproteinemia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008786 MONDO:0015194 True pyridoxine-responsive sideroblastic anemia sideroblastic anemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0008758 MONDO:0002254 True mitochondrial DNA depletion syndrome 4a syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0008762 MONDO:0018965 True autosomal recessive Alport syndrome Alport syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0008763 MONDO:0002254 True Alstrom syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0008764 MONDO:0018998 True Leber congenital amaurosis 1 Leber congenital amaurosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0008765 MONDO:0018998 True Leber congenital amaurosis 2 Leber congenital amaurosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0008771 MONDO:0019507 True amelogenesis imperfecta type 1G amelogenesis imperfecta UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS MONDO:0008787 MONDO:0000104 True microcytic anemia with liver iron overload anemia, hypochromic microcytic with iron overload UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0008787 MONDO:0016624 True microcytic anemia with liver iron overload inherited deficiency anemia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008787 MONDO:0017763 True microcytic anemia with liver iron overload disorder of iron metabolism and transport UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008788 MONDO:0016624 True IRIDA syndrome inherited deficiency anemia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008791 MONDO:0000819 True anencephaly 1 anencephaly UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0008791 MONDO:0015159 True anencephaly 1 multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008792 MONDO:0019296 True familial angiolipomatosis subcutaneous tissue disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008795 MONDO:0002254 True aniridia-cerebellar ataxia-intellectual disability syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0008796 MONDO:0015159 True aniridia-renal agenesis-psychomotor retardation syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008797 MONDO:0006999 True anodontia tooth disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0008798 MONDO:0019211 True nonsyndromic congenital nail disorder 4 isolated congenital anonychia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008799 MONDO:0016073 True anophthalmia/microphthalmia-esophageal atresia syndrome syndromic microphthalmia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0008800 MONDO:0006025 True microphthalmia with limb anomalies autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0008803 MONDO:0015338 True Antley-Bixler syndrome syndromic craniosynostosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008806 MONDO:0018234 True Aphalangy-hemivertebrae-urogenital-intestinal dysgenesis syndrome dysostosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008806 MONDO:0019054 True Aphalangy-hemivertebrae-urogenital-intestinal dysgenesis syndrome congenital limb malformation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008808 MONDO:0019175 True aplasia cutis congenita-intestinal lymphangiectasia syndrome primary lymphedema UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008808 MONDO:0019294 True aplasia cutis congenita-intestinal lymphangiectasia syndrome mixed dermis disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008810 MONDO:0001336 True familial apolipoprotein C-II deficiency familial hyperlipidemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0008810 MONDO:0018637 True familial apolipoprotein C-II deficiency familial chylomicronemia syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0008812 MONDO:0019287 True AREDYLD syndrome ectodermal dysplasia syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING -MONDO:0008813 MONDO:0020022 True arachnoid cyst central nervous system malformation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008799 MONDO:0016073 True anophthalmia/microphthalmia-esophageal atresia syndrome syndromic microphthalmia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS MONDO:0008817 MONDO:0018870 True arterial calcification, generalized, of infancy, 1 arterial calcification of infancy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0008822 MONDO:0017123 True arthrogryposis, renal dysfunction, and cholestasis 1 arthrogryposis-renal dysfunction-cholestasis syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0008823 MONDO:0015168 True arthrogryposis multiplex congenita 2, neurogenic type arthrogryposis multiplex congenita UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0008824 MONDO:0002254 True fetal akinesia deformation sequence syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0008825 MONDO:0015168 True arthrogryposis multiplex congenita-whistling face syndrome arthrogryposis multiplex congenita UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING -MONDO:0008826 MONDO:0015168 True arthrogryposis-hyperkeratosis syndrome, lethal form arthrogryposis multiplex congenita UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING -MONDO:0008828 MONDO:0006025 True camptodactyly-arthropathy-coxa vara-pericarditis syndrome autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0008830 MONDO:0019251 True aspartylglucosaminuria oligosaccharidosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008830 MONDO:0800088 True aspartylglucosaminuria lysosomal storage disease with skeletal involvement UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008831 MONDO:0018770 True asphyxiating thoracic dystrophy 1 Jeune syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0008832 MONDO:0018677 True right atrial isomerism visceral heterotaxy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED +MONDO:0008822 MONDO:0017123 True arthrogryposis, renal dysfunction, and cholestasis 1 arthrogryposis-renal dysfunction-cholestasis syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0008823 MONDO:0015168 True arthrogryposis multiplex congenita 2, neurogenic type arthrogryposis multiplex congenita UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0008831 MONDO:0018770 True asphyxiating thoracic dystrophy 1 Jeune syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS MONDO:0008833 MONDO:0017417 True renal-hepatic-pancreatic dysplasia 1 renal-hepatic-pancreatic dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0008838 MONDO:0016612 True ataxia - deafness - intellectual disability syndrome X-linked cerebellar ataxia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008840 MONDO:0019852 True ataxia telangiectasia inherited primary ovarian failure UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING -MONDO:0008846 MONDO:0004689 True atransferrinemia inborn metal metabolism disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0008846 MONDO:0016624 True atransferrinemia inherited deficiency anemia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008846 MONDO:0017763 True atransferrinemia disorder of iron metabolism and transport UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008847 MONDO:0003847 True atrichia with papular lesions hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0008847 MONDO:0004907 True atrichia with papular lesions alopecia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0008849 MONDO:0018855 True atrophoderma vermiculata keratosis pilaris atrophicans UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED -MONDO:0008853 MONDO:0015161 True Barber-Say syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008853 MONDO:0019287 True Barber-Say syndrome ectodermal dysplasia syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS -MONDO:0008854 MONDO:0015229 True Bardet-Biedl syndrome 1 Bardet-Biedl syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0008855 MONDO:0031520 True MHC class II deficiency familial severe combined immunodeficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0008857 MONDO:0015161 True Beemer-Ertbruggen syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008858 MONDO:0005071 True Behr syndrome nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0008858 MONDO:0006025 True Behr syndrome autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0008861 MONDO:0018950 True 3-methylcrotonyl-CoA carboxylase 1 deficiency 3-methylcrotonyl-CoA carboxylase deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0008862 MONDO:0018950 True 3-methylcrotonyl-CoA carboxylase 2 deficiency 3-methylcrotonyl-CoA carboxylase deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0008863 MONDO:0015905 True sitosterolemia syndromic dyslipidemia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008864 MONDO:0015159 True Biemond syndrome type 2 multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008867 MONDO:0001751 True biliary atresia cholestasis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0008869 MONDO:0019342 True Seckel syndrome 1 Seckel syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0008870 MONDO:0015159 True bird headed-dwarfism, Montreal type multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008871 MONDO:0005516 True microcephalic osteodysplastic primordial dwarfism type I osteochondrodysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0008872 MONDO:0005516 True microcephalic osteodysplastic primordial dwarfism type II osteochondrodysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0008874 MONDO:0015126 True Bangstad syndrome polyendocrinopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008875 MONDO:0015161 True blepharophimosis-ptosis-esotropia-syndactyly-short stature syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008876 MONDO:0002254 True Bloom syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0008876 MONDO:0006025 True Bloom syndrome autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0008876 MONDO:0015951 True Bloom syndrome hereditary photodermatosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008840 MONDO:0015131 True ataxia telangiectasia combined immunodeficiency UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0008854 MONDO:0015229 True Bardet-Biedl syndrome 1 Bardet-Biedl syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0008861 MONDO:0018950 True 3-methylcrotonyl-CoA carboxylase 1 deficiency 3-methylcrotonyl-CoA carboxylase deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0008862 MONDO:0018950 True 3-methylcrotonyl-CoA carboxylase 2 deficiency 3-methylcrotonyl-CoA carboxylase deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0008867 MONDO:0006322 True biliary atresia non-neoplastic bile duct disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008869 MONDO:0019342 True Seckel syndrome 1 Seckel syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0008876 MONDO:0002254 True Bloom syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0008876 MONDO:0020629 True Bloom syndrome microcephaly, growth restriction and increased sister chromatid exchange UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0008877 MONDO:0019216 True blue diaper syndrome inborn disorder of amino acid transport UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008878 MONDO:0018230 True bone dysplasia, lethal Holmgren type skeletal dysplasia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008879 MONDO:0006025 True Bowen-Conradi syndrome autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0008879 MONDO:0015159 True Bowen-Conradi syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008881 MONDO:0019698 True kyphomelic dysplasia bent bone dysplasia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008884 MONDO:0019287 True oculoosteocutaneous syndrome ectodermal dysplasia syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING -MONDO:0008885 MONDO:0002254 True Elsahy-Waters syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0008885 MONDO:0015159 True Elsahy-Waters syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008889 MONDO:0005294 True thromboangiitis obliterans peripheral vascular disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0008891 MONDO:0024257 True riboflavin transporter deficiency hereditary motor neuron disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008892 MONDO:0015762 True progressive familial intrahepatic cholestasis type 1 progressive familial intrahepatic cholestasis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0008893 MONDO:0015159 True C syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008893 MONDO:0015338 True C syndrome syndromic craniosynostosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008894 MONDO:0019280 True cataract-hypertrichosis-intellectual disability syndrome hypertrichosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008894 MONDO:0019287 True cataract-hypertrichosis-intellectual disability syndrome ectodermal dysplasia syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING -MONDO:0008895 MONDO:0003847 True hereditary arterial and articular multiple calcification syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0008896 MONDO:0019698 True campomelia, Cumming type bent bone dysplasia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008898 MONDO:0015161 True camptodactyly syndrome, Guadalajara type 1 multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008899 MONDO:0015161 True camptodactyly syndrome, Guadalajara type 2 multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008899 MONDO:0018234 True camptodactyly syndrome, Guadalajara type 2 dysostosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008899 MONDO:0019054 True camptodactyly syndrome, Guadalajara type 2 congenital limb malformation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008900 MONDO:0015159 True camptodactyly with fibrous tissue hyperplasia and skeletal dysplasia multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008900 MONDO:0018234 True camptodactyly with fibrous tissue hyperplasia and skeletal dysplasia dysostosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008901 MONDO:0020120 True Tel Hashomer camptodactyly syndrome skeletal muscle disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008903 MONDO:0000376 True lung cancer respiratory system cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0008889 MONDO:0005294 True thromboangiitis obliterans peripheral vascular disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0008890 MONDO:0002782 True progressive bulbar palsy cranial nerve palsy UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0008892 MONDO:0015762 True progressive familial intrahepatic cholestasis type 1 progressive familial intrahepatic cholestasis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS MONDO:0008903 MONDO:0003274 True lung cancer thoracic cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0008903 MONDO:0021117 True lung cancer lung neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008905 MONDO:0015979 True predisposition to invasive fungal disease due to CARD9 deficiency hereditary predisposition to infections UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008907 MONDO:0005500 True PMM2-congenital disorder of glycosylation congenital disorder of glycosylation type I UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0008907 MONDO:0017740 True PMM2-congenital disorder of glycosylation disorder of protein N-glycosylation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008908 MONDO:0005501 True MGAT2-congenital disorder of glycosylation congenital disorder of glycosylation type II UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0008908 MONDO:0015327 True MGAT2-congenital disorder of glycosylation developmental anomaly of metabolic origin UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008908 MONDO:0017740 True MGAT2-congenital disorder of glycosylation disorder of protein N-glycosylation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008910 MONDO:0003847 True carboxypeptidase N deficiency hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0008913 MONDO:0031323 True cardiac valvular defect, developmental cardiac valvular defect UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0008915 MONDO:0003847 True dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0008917 MONDO:0015161 True heart defects-limb shortening syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008918 MONDO:0017716 True carnitine-acylcarnitine translocase deficiency disorder of carnitine cycle and carnitine transport UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008919 MONDO:0017716 True systemic primary carnitine deficiency disease disorder of carnitine cycle and carnitine transport UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008922 MONDO:0016801 True Sengers syndrome mitochondrial substrate carrier disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008922 MONDO:0018117 True Sengers syndrome disorder of phospholipids, sphingolipids and fatty acids biosynthesis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008922 MONDO:0018158 True Sengers syndrome mitochondrial DNA depletion syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0008923 MONDO:0017666 True autosomal recessive palmoplantar keratoderma and congenital alopecia diffuse palmoplantar keratoderma UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008923 MONDO:0019287 True autosomal recessive palmoplantar keratoderma and congenital alopecia ectodermal dysplasia syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED -MONDO:0008926 MONDO:0006025 True COFS syndrome autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0008926 MONDO:0016073 True COFS syndrome syndromic microphthalmia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS -MONDO:0008927 MONDO:0003847 True colobomatous optic disc-macular atrophy-chorioretinopathy syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0008928 MONDO:0100309 True cataract-ataxia-deafness syndrome hereditary ataxia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008931 MONDO:0019054 True Cenani-Lenz syndactyly syndrome congenital limb malformation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008934 MONDO:0019287 True cerebellar ataxia-ectodermal dysplasia syndrome ectodermal dysplasia syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING -MONDO:0008935 MONDO:0015770 True cerebellar ataxia-hypogonadism syndrome congenital hypogonadotropic hypogonadism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008938 MONDO:0020046 True early-onset cerebellar ataxia with retained tendon reflexes autosomal recessive degenerative and progressive cerebellar ataxia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008943 MONDO:0020043 True autosomal recessive spinocerebellar ataxia 2 autosomal recessive congenital cerebellar ataxia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008944 MONDO:0018772 True Joubert syndrome 1 Joubert syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0008947 MONDO:0003996 True bilateral striopallidodentate calcinosis basal ganglia disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0008947 MONDO:0015547 True bilateral striopallidodentate calcinosis hereditary dementia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008948 MONDO:0002615 True cerebrotendinous xanthomatosis xanthomatosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0008948 MONDO:0015905 True cerebrotendinous xanthomatosis syndromic dyslipidemia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008948 MONDO:0019046 True cerebrotendinous xanthomatosis leukodystrophy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS -MONDO:0008948 MONDO:0019218 True cerebrotendinous xanthomatosis inborn disorder of bile acid synthesis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008948 MONDO:0019296 True cerebrotendinous xanthomatosis subcutaneous tissue disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008948 MONDO:0020044 True cerebrotendinous xanthomatosis autosomal recessive metabolic cerebellar ataxia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008948 MONDO:0020127 True cerebrotendinous xanthomatosis hereditary peripheral neuropathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008948 MONDO:0020143 True cerebrotendinous xanthomatosis cerebral lipidosis with dementia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0008955 MONDO:0008926 True cerebrooculofacioskeletal syndrome 1 COFS syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0008958 MONDO:0001029 True Klippel-Feil syndrome 2, autosomal recessive Klippel-Feil syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0008961 MONDO:0018995 True Charcot-Marie-Tooth disease type 4A Charcot-Marie-Tooth disease type 4 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0008962 MONDO:0018306 True Griscelli syndrome type 1 Griscelli syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0008963 MONDO:0015541 True Chediak-Higashi syndrome hereditary hemophagocytic lymphohistiocytosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING -MONDO:0008963 MONDO:0017305 True Chediak-Higashi syndrome syndromic oculocutaneous albinism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008963 MONDO:0017739 True Chediak-Higashi syndrome disorder of lysosomal-related organelles UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008963 MONDO:0020127 True Chediak-Higashi syndrome hereditary peripheral neuropathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008963 MONDO:0024237 True Chediak-Higashi syndrome inherited neurodegenerative disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008965 MONDO:0002254 True CHARGE syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0008965 MONDO:0015770 True CHARGE syndrome congenital hypogonadotropic hypogonadism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008966 MONDO:0002254 True Aagenaes syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0008966 MONDO:0019175 True Aagenaes syndrome primary lymphedema UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008967 MONDO:0018841 True congenital bile acid synthesis defect 4 congenital bile acid synthesis defect UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0008970 MONDO:0019702 True chondrodysplasia Blomstrand type neonatal osteosclerotic dysplasia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008972 MONDO:0015776 True rhizomelic chondrodysplasia punctata type 1 rhizomelic chondrodysplasia punctata UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0008973 MONDO:0015775 True chondrodysplasia punctata, Toriello type non-rhizomelic chondrodysplasia punctata UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008974 MONDO:0019240 True Greenberg dysplasia sterol biosynthesis disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008974 MONDO:0019701 True Greenberg dysplasia chondrodysplasia punctata UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0008907 MONDO:0005500 True PMM2-congenital disorder of glycosylation congenital disorder of glycosylation type I UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0008908 MONDO:0005501 True MGAT2-congenital disorder of glycosylation congenital disorder of glycosylation type II UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0008922 MONDO:0018158 True Sengers syndrome mitochondrial DNA depletion syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0008939 MONDO:0002320 True isolated cerebellar hypoplasia/agenesis congenital nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0008944 MONDO:0018772 True Joubert syndrome 1 Joubert syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0008955 MONDO:0008926 True cerebrooculofacioskeletal syndrome 1 COFS syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0008958 MONDO:0001029 True Klippel-Feil syndrome 2, autosomal recessive Klippel-Feil syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0008962 MONDO:0018306 True Griscelli syndrome type 1 Griscelli syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0008965 MONDO:0002254 True CHARGE syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0008966 MONDO:0002254 True Aagenaes syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0008967 MONDO:0018841 True congenital bile acid synthesis defect 4 congenital bile acid synthesis defect UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0008972 MONDO:0015776 True rhizomelic chondrodysplasia punctata type 1 rhizomelic chondrodysplasia punctata UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS MONDO:0008977 MONDO:0005089 True chondrosarcoma sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0008978 MONDO:0002597 True chordoma notochordal tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0008980 MONDO:0015770 True ataxia-hypogonadism-choroidal dystrophy syndrome congenital hypogonadotropic hypogonadism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008980 MONDO:0100309 True ataxia-hypogonadism-choroidal dystrophy syndrome hereditary ataxia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0008988 MONDO:0015991 True citrullinemia type I citrullinemia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0008991 MONDO:0015161 True Verloove Vanhorick-Brubakk syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008992 MONDO:0015161 True Juberg-Hayward syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008995 MONDO:0002254 True Yunis-Varon syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0008995 MONDO:0018230 True Yunis-Varon syndrome skeletal dysplasia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008998 MONDO:0016006 True Cockayne syndrome type 3 Cockayne syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008999 MONDO:0003847 True Cohen syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0008999 MONDO:0015134 True Cohen syndrome constitutional neutropenia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008999 MONDO:0015159 True Cohen syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009003 MONDO:0018852 True achromatopsia 2 achromatopsia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0009007 MONDO:0003847 True Jalili syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0009008 MONDO:0003847 True heart defect - tongue hamartoma - polysyndactyly syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0009008 MONDO:0015161 True heart defect - tongue hamartoma - polysyndactyly syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009010 MONDO:0020292 True aortic arch interruption congenital anomaly of the great arteries UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009012 MONDO:0015168 True multiple pterygium-malignant hyperthermia syndrome arthrogryposis multiplex congenita UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0008978 MONDO:0002597 True chordoma notochordal tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0008988 MONDO:0015991 True citrullinemia type I citrullinemia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0009003 MONDO:0018852 True achromatopsia 2 achromatopsia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0009014 MONDO:0000733 True cornea plana 2 cornea plana UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0009015 MONDO:0002254 True corneal dystrophy-perceptive deafness syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0009015 MONDO:0003847 True corneal dystrophy-perceptive deafness syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0009016 MONDO:0001515 True band keratopathy corneal degeneration UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0009018 MONDO:0020213 True central cloudy dystrophy of François stromal corneal dystrophy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009019 MONDO:0000766 True congenital hereditary endothelial dystrophy of cornea corneal endothelial dystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0009019 MONDO:0003847 True congenital hereditary endothelial dystrophy of cornea hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0009019 MONDO:0020214 True congenital hereditary endothelial dystrophy of cornea posterior corneal dystrophy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009020 MONDO:0020213 True macular corneal dystrophy stromal corneal dystrophy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0009024 MONDO:0015159 True cortical blindness-intellectual disability-polydactyly syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009025 MONDO:0005523 True apparent mineralocorticoid excess steroid inherited metabolic disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0009026 MONDO:0000426 True Costello syndrome autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0009026 MONDO:0015159 True Costello syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009026 MONDO:0020297 True Costello syndrome Noonan syndrome and Noonan-related syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009032 MONDO:0015338 True cranioectodermal dysplasia syndromic craniosynostosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009032 MONDO:0015461 True cranioectodermal dysplasia short rib-polydactyly syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009032 MONDO:0019287 True cranioectodermal dysplasia ectodermal dysplasia syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS -MONDO:0009033 MONDO:0003847 True temtamy syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0009033 MONDO:0015159 True temtamy syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009035 MONDO:0006025 True craniometaphyseal dysplasia, autosomal recessive autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0009035 MONDO:0015465 True craniometaphyseal dysplasia, autosomal recessive craniometaphyseal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0009036 MONDO:0015159 True cardiocranial syndrome, Pfeiffer type multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009036 MONDO:0015338 True cardiocranial syndrome, Pfeiffer type syndromic craniosynostosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009039 MONDO:0015338 True Baller-Gerold syndrome syndromic craniosynostosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009042 MONDO:0015338 True craniotelencephalic dysplasia syndromic craniosynostosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009042 MONDO:0018838 True craniotelencephalic dysplasia lissencephaly spectrum disorders UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING -MONDO:0009044 MONDO:0002408 True Crigler-Najjar syndrome hereditary hyperbilirubinemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0009046 MONDO:0002254 True Fraser syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0009046 MONDO:0006025 True Fraser syndrome autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0009046 MONDO:0015161 True Fraser syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009046 MONDO:0020153 True Fraser syndrome cryptophthalmia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0009050 MONDO:0003429 True Cushing disease due to pituitary adenoma functioning pituitary gland adenoma UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0009016 MONDO:0002261 True band keratopathy keratopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0009022 MONDO:0002320 True corpus callosum, agenesis of congenital nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009031 MONDO:0002185 True craniodiaphyseal dysplasia hyperostosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0009035 MONDO:0015465 True craniometaphyseal dysplasia, autosomal recessive craniometaphyseal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0009044 MONDO:0002254 True Crigler-Najjar syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0009044 MONDO:0002408 True Crigler-Najjar syndrome hereditary hyperbilirubinemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0009046 MONDO:0002254 True Fraser syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0009047 MONDO:0003150 True cryptorchidism male reproductive system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0009050 MONDO:0017824 True Cushing disease due to pituitary adenoma familial isolated pituitary adenoma UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0009050 MONDO:0020528 True Cushing disease due to pituitary adenoma ACTH-dependent Cushing syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0009052 MONDO:0019572 True cutis laxa, autosomal recessive, type 1A autosomal recessive cutis laxa type 1 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0009053 MONDO:0017569 True ALDH18A1-related de Barsy syndrome de Barsy syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0009053 MONDO:0100237 True ALDH18A1-related de Barsy syndrome inherited cutis laxa UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0009055 MONDO:0016231 True cutis marmorata telangiectatica congenita capillary malformation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009055 MONDO:0019293 True cutis marmorata telangiectatica congenita skin vascular disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009058 MONDO:0004736 True cystathioninuria inborn disorder of amino acid metabolism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0009058 MONDO:0019222 True cystathioninuria inborn disorder of methionine cycle and sulfur amino acid metabolism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009061 MONDO:0006025 True cystic fibrosis autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0009063 MONDO:0003847 True ventriculomegaly-cystic kidney disease hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0009064 MONDO:0016239 True ocular cystinosis cystinosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009067 MONDO:0015962 True cystinuria inherited renal tubular disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009067 MONDO:0019216 True cystinuria inborn disorder of amino acid transport UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009071 MONDO:0015962 True hereditary renal hypouricemia inherited renal tubular disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009072 MONDO:0002427 True Dandy-Walker syndrome cerebellar disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0009073 MONDO:0019078 True Ritscher-Schinzel syndrome 1 Ritscher-Schinzel syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0009074 MONDO:0015159 True facial dysmorphism-macrocephaly-myopia-Dandy-Walker malformation syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009074 MONDO:0020022 True facial dysmorphism-macrocephaly-myopia-Dandy-Walker malformation syndrome central nervous system malformation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009075 MONDO:0020022 True Dandy-Walker malformation-postaxial polydactyly syndrome central nervous system malformation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009076 MONDO:0019588 True autosomal recessive nonsyndromic hearing loss 1A hearing loss, autosomal recessive UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0009079 MONDO:0002254 True DOORS syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0009079 MONDO:0003847 True DOORS syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0009080 MONDO:0015161 True split hand-foot malformation 1 with sensorineural hearing loss multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009080 MONDO:0018234 True split hand-foot malformation 1 with sensorineural hearing loss dysostosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0009080 MONDO:0019054 True split hand-foot malformation 1 with sensorineural hearing loss congenital limb malformation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009082 MONDO:0002254 True high myopia-sensorineural deafness syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0009082 MONDO:0003847 True high myopia-sensorineural deafness syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0009084 MONDO:0019287 True conductive deafness-ptosis-skeletal anomalies syndrome ectodermal dysplasia syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0009073 MONDO:0019078 True Ritscher-Schinzel syndrome 1 Ritscher-Schinzel syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0009076 MONDO:0019588 True autosomal recessive nonsyndromic hearing loss 1A hearing loss, autosomal recessive UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS MONDO:0009091 MONDO:0013099 True non-acquired combined pituitary hormone deficiency with spine abnormalities combined pituitary hormone deficiencies, genetic form UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0009091 MONDO:0018762 True non-acquired combined pituitary hormone deficiency with spine abnormalities non-acquired combined pituitary hormone deficiency UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009092 MONDO:0006025 True polycystic lipomembranous osteodysplasia with sclerosing leukoencephaly autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0009092 MONDO:0019046 True polycystic lipomembranous osteodysplasia with sclerosing leukoencephaly leukodystrophy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS -MONDO:0009093 MONDO:0019046 True dermatoleukodystrophy leukodystrophy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING -MONDO:0009094 MONDO:0021154 True dermochondrocorneal dystrophy dermis disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009095 MONDO:0019287 True dermatoosteolysis, Kirghizian type ectodermal dysplasia syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0009097 MONDO:0019631 True persistent hyperplastic primary vitreous, autosomal recessive persistent hyperplastic primary vitreous UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0009099 MONDO:0015962 True nephrogenic diabetes insipidus-intracranial calcification syndrome inherited renal tubular disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009101 MONDO:0003847 True Wolfram syndrome 1 hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0009101 MONDO:0018105 True Wolfram syndrome 1 Wolfram syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0009103 MONDO:0005711 True diaphragmatic hernia 2 congenital diaphragmatic hernia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0009104 MONDO:0006025 True Donnai-Barrow syndrome autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0009105 MONDO:0002254 True trichohepatoenteric syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0009105 MONDO:0003778 True trichohepatoenteric syndrome inborn error of immunity UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0009106 MONDO:0018075 True diastematomyelia neural tube defect UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009107 MONDO:0005516 True diastrophic dysplasia osteochondrodysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0009109 MONDO:0019216 True lysinuric protein intolerance inborn disorder of amino acid transport UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009110 MONDO:0019216 True dicarboxylic aminoaciduria inborn disorder of amino acid transport UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009111 MONDO:0019238 True dihydropyrimidinuria inborn disorder of pyrimidine metabolism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0009112 MONDO:0015776 True rhizomelic chondrodysplasia punctata type 2 rhizomelic chondrodysplasia punctata UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0009113 MONDO:0019052 True hemolytic anemia due to diphosphoglycerate mutase deficiency inborn errors of metabolism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0009114 MONDO:0017706 True congenital sucrase-isomaltase deficiency disorder of carbohydrate transmembrane transport and absorption UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009115 MONDO:0017706 True congenital lactase deficiency disorder of carbohydrate transmembrane transport and absorption UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009121 MONDO:0015161 True von Voss-Cherstvoy syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009123 MONDO:0017759 True orthostatic hypotension 1 disorder of catecholamine synthesis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009123 MONDO:0021272 True orthostatic hypotension 1 inherited orthostatic hypotension UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0009124 MONDO:0015159 True Dubowitz syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009124 MONDO:0019287 True Dubowitz syndrome ectodermal dysplasia syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS -MONDO:0009126 MONDO:0001045 True duodenal atresia intestinal atresia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0009133 MONDO:0002254 True cerebellar ataxia, intellectual disability, and dysequilibrium syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0009133 MONDO:0020043 True cerebellar ataxia, intellectual disability, and dysequilibrium autosomal recessive congenital cerebellar ataxia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009134 MONDO:0017749 True congenital dyserythropoietic anemia type 2 disorder of multiple glycosylation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009134 MONDO:0019403 True congenital dyserythropoietic anemia type 2 congenital dyserythropoietic anemia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0009135 MONDO:0020337 True anemia, congenital dyserythropoietic, type 1a congenital dyserythropoietic anemia type 1 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0009136 MONDO:0015780 True dyskeratosis congenita, autosomal recessive 1 dyskeratosis congenita UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0009138 MONDO:0017198 True dysosteosclerosis osteopetrosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009141 MONDO:0015990 True torsion dystonia 2 focal, segmental or multifocal dystonia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009143 MONDO:0016817 True Meier-Gorlin syndrome 1 Meier-Gorlin syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0009144 MONDO:0020289 True Ebstein anomaly congenital tricuspid malformation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009145 MONDO:0017666 True SchC6pf-Schulz-Passarge syndrome diffuse palmoplantar keratoderma UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009146 MONDO:0019287 True ectodermal dysplasia-sensorineural deafness syndrome ectodermal dysplasia syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING -MONDO:0009149 MONDO:0019287 True ectodermal dysplasia-intellectual disability-central nervous system malformation syndrome ectodermal dysplasia syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING -MONDO:0009150 MONDO:0019287 True hypohidrotic ectodermal dysplasia-hypothyroidism-ciliary dyskinesia syndrome ectodermal dysplasia syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0009106 MONDO:0002320 True diastematomyelia congenital nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009112 MONDO:0015776 True rhizomelic chondrodysplasia punctata type 2 rhizomelic chondrodysplasia punctata UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0009113 MONDO:0019052 True hemolytic anemia due to diphosphoglycerate mutase deficiency inborn errors of metabolism UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0009113 MONDO:0020585 True hemolytic anemia due to diphosphoglycerate mutase deficiency anemia due to erythrocyte enzyme disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009123 MONDO:0021272 True orthostatic hypotension 1 inherited orthostatic hypotension UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0009126 MONDO:0001045 True duodenal atresia intestinal atresia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0009130 MONDO:0002254 True Dyggve-Melchior-Clausen disease syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0009131 MONDO:0005071 True Riley-Day syndrome nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0009133 MONDO:0002254 True cerebellar ataxia, intellectual disability, and dysequilibrium syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0009134 MONDO:0019403 True congenital dyserythropoietic anemia type 2 congenital dyserythropoietic anemia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0009136 MONDO:0015780 True dyskeratosis congenita, autosomal recessive 1 dyskeratosis congenita UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0009143 MONDO:0016817 True Meier-Gorlin syndrome 1 Meier-Gorlin syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS MONDO:0009151 MONDO:0000358 True cleft lip/palate-ectodermal dysplasia syndrome orofacial cleft UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0009151 MONDO:0006025 True cleft lip/palate-ectodermal dysplasia syndrome autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0009151 MONDO:0019287 True cleft lip/palate-ectodermal dysplasia syndrome ectodermal dysplasia syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS -MONDO:0009152 MONDO:0003847 True ectopia lentis 2, isolated, autosomal recessive hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0009152 MONDO:0015998 True ectopia lentis 2, isolated, autosomal recessive isolated ectopia lentis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0009153 MONDO:0003847 True ectopia lentis et pupillae hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0009151 MONDO:0019287 True cleft lip/palate-ectodermal dysplasia syndrome ectodermal dysplasia syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS MONDO:0009154 MONDO:0000045 True hypothyroidism, congenital, nongoitrous, 5 hypothyroidism, congenital, nongoitrous UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0009155 MONDO:0018234 True EEM syndrome dysostosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0009155 MONDO:0019287 True EEM syndrome ectodermal dysplasia syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED -MONDO:0009156 MONDO:0019054 True ectrodactyly-polydactyly syndrome congenital limb malformation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009157 MONDO:0016576 True split hand-foot malformation 6 split hand-foot malformation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0009159 MONDO:0020066 True Ehlers-Danlos syndrome, cardiac valvular type Ehlers-Danlos syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0009161 MONDO:0020066 True Ehlers-Danlos syndrome, dermatosparaxis type Ehlers-Danlos syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0009162 MONDO:0006025 True Ellis-van Creveld syndrome autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0009157 MONDO:0016576 True split hand-foot malformation 6 split hand-foot malformation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0009159 MONDO:0020066 True Ehlers-Danlos syndrome, cardiac valvular type Ehlers-Danlos syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0009161 MONDO:0020066 True Ehlers-Danlos syndrome, dermatosparaxis type Ehlers-Danlos syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS MONDO:0009162 MONDO:0018770 True Ellis-van Creveld syndrome Jeune syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0009162 MONDO:0019287 True Ellis-van Creveld syndrome ectodermal dysplasia syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS MONDO:0009165 MONDO:0018866 True Aicardi-Goutieres syndrome 1 Aicardi-Goutieres syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0009166 MONDO:0020135 True pontocerebellar hypoplasia type 4 pontocerebellar hypoplasia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0009167 MONDO:0015159 True Bonnemann-Meinecke-Reich syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009168 MONDO:0003847 True Fowler syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0009169 MONDO:0000470 True endocardial fibroelastosis endocardium disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0009173 MONDO:0003847 True congenital enteropathy due to enteropeptidase deficiency hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0009173 MONDO:0004335 True congenital enteropathy due to enteropeptidase deficiency digestive system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0009174 MONDO:0005020 True protein-losing enteropathy intestinal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0009175 MONDO:0020122 True eosinophilic fasciitis acquired idiopathic inflammatory myopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009176 MONDO:0005046 True epidermodysplasia verruciformis immune system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0009177 MONDO:0017612 True late-onset localized junctional epidermolysis bullosa-intellectual disability syndrome junctional epidermolysis bullosa UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING -MONDO:0009179 MONDO:0006543 True recessive dystrophic epidermolysis bullosa epidermolysis bullosa dystrophica UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0009166 MONDO:0020135 True pontocerebellar hypoplasia type 4 pontocerebellar hypoplasia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0009175 MONDO:0004830 True eosinophilic fasciitis fasciitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009180 MONDO:0017612 True junctional epidermolysis bullosa, non-Herlitz type junctional epidermolysis bullosa UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0009181 MONDO:0002254 True epidermolysis bullosa simplex 5B, with muscular dystrophy syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0009181 MONDO:0016198 True epidermolysis bullosa simplex 5B, with muscular dystrophy qualitative or quantitative defects of plectin UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009181 MONDO:0017610 True epidermolysis bullosa simplex 5B, with muscular dystrophy epidermolysis bullosa simplex UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0009182 MONDO:0017612 True junctional epidermolysis bullosa Herlitz type junctional epidermolysis bullosa UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0009183 MONDO:0017612 True junctional epidermolysis bullosa with pyloric atresia junctional epidermolysis bullosa UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0009185 MONDO:0019287 True amelocerebrohypohidrotic syndrome ectodermal dysplasia syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS -MONDO:0009188 MONDO:0015159 True epilepsy-telangiectasia syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009189 MONDO:0016648 True multiple epiphyseal dysplasia type 4 multiple epiphyseal dysplasia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0009192 MONDO:0002254 True Wolcott-Rallison syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0009192 MONDO:0006025 True Wolcott-Rallison syndrome autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0009194 MONDO:0003847 True immunodeficiency 32B hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0009197 MONDO:0020113 True transient erythroblastopenia of childhood primary acquired red cell aplasia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009202 MONDO:0043009 True Thakker-Donnai syndrome hereditary lethal multiple congenital anomalies/dysmorphic syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009203 MONDO:0018363 True focal facial dermal dysplasia type III focal facial dermal dysplasia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0009204 MONDO:0018234 True lethal faciocardiomelic dysplasia dysostosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009204 MONDO:0019054 True lethal faciocardiomelic dysplasia congenital limb malformation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009205 MONDO:0015159 True faciocardiorenal syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009209 MONDO:0015161 True autosomal recessive faciodigitogenital syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009210 MONDO:0021181 True congenital factor V deficiency inherited blood coagulation disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009211 MONDO:0015722 True congenital factor VII deficiency congenital vitamin K-dependent coagulation factors deficiency UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS -MONDO:0009212 MONDO:0015722 True congenital factor X deficiency congenital vitamin K-dependent coagulation factors deficiency UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS -MONDO:0009213 MONDO:0019391 True Fanconi anemia complementation group C Fanconi anemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0009214 MONDO:0019391 True Fanconi anemia complementation group D2 Fanconi anemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0009215 MONDO:0019391 True Fanconi anemia complementation group A Fanconi anemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0009216 MONDO:0002412 True glycogen storage disease due to GLUT2 deficiency disorder of glycogen metabolism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING -MONDO:0009217 MONDO:0002254 True Fanconi-like syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0009221 MONDO:0018234 True femur-fibula-ulna complex dysostosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009221 MONDO:0019054 True femur-fibula-ulna complex congenital limb malformation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009222 MONDO:0018234 True Gollop-Wolfgang complex dysostosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009222 MONDO:0019054 True Gollop-Wolfgang complex congenital limb malformation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009223 MONDO:0018555 True hypogonadotropic hypogonadism 23 with or without anosmia hypogonadotropic hypogonadism UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0009223 MONDO:0019155 True hypogonadotropic hypogonadism 23 with or without anosmia Leydig cell hypoplasia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0009224 MONDO:0016555 True fetal iodine syndrome transient congenital hypothyroidism due to maternal factor UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009224 MONDO:0016677 True fetal iodine syndrome toxic or drug-related embryofetopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009226 MONDO:0016068 True fibrochondrogenesis 1 fibrochondrogenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0009181 MONDO:0017610 True epidermolysis bullosa simplex 5B, with muscular dystrophy epidermolysis bullosa simplex UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0009182 MONDO:0017612 True junctional epidermolysis bullosa Herlitz type junctional epidermolysis bullosa UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0009183 MONDO:0017612 True junctional epidermolysis bullosa with pyloric atresia junctional epidermolysis bullosa UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0009189 MONDO:0016648 True multiple epiphyseal dysplasia type 4 multiple epiphyseal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0009192 MONDO:0002254 True Wolcott-Rallison syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0009203 MONDO:0018363 True focal facial dermal dysplasia type III focal facial dermal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0009210 MONDO:0020586 True congenital factor V deficiency factor V deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009212 MONDO:0002247 True congenital factor X deficiency factor X deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009213 MONDO:0019391 True Fanconi anemia complementation group C Fanconi anemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0009214 MONDO:0019391 True Fanconi anemia complementation group D2 Fanconi anemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0009215 MONDO:0019391 True Fanconi anemia complementation group A Fanconi anemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0009223 MONDO:0018555 True hypogonadotropic hypogonadism 23 with or without anosmia hypogonadotropic hypogonadism UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0009226 MONDO:0016068 True fibrochondrogenesis 1 fibrochondrogenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS MONDO:0009227 MONDO:0016824 True myofibromatosis, infantile, 1 infantile myofibromatosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0009228 MONDO:0015161 True gingival fibromatosis-facial dysmorphism syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009229 MONDO:0019707 True hyaline fibromatosis syndrome primary osteolysis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009231 MONDO:0006025 True acromesomelic dysplasia 2B autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0009231 MONDO:0018234 True acromesomelic dysplasia 2B dysostosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0009231 MONDO:0019054 True acromesomelic dysplasia 2B congenital limb malformation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009231 MONDO:0019696 True acromesomelic dysplasia 2B acromesomelic dysplasia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0009232 MONDO:0018234 True Fuhrmann syndrome dysostosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0009232 MONDO:0019054 True Fuhrmann syndrome congenital limb malformation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009233 MONDO:0015161 True Fibulo-ulnar hypoplasia-renal anomalies syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009234 MONDO:0021181 True congenital high-molecular-weight kininogen deficiency inherited blood coagulation disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009235 MONDO:0019118 True familial benign flecked retina inherited retinal dystrophy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0009237 MONDO:0005108 True focal epithelial hyperplasia viral infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0009238 MONDO:0016624 True hereditary folate malabsorption inherited deficiency anemia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009238 MONDO:0017313 True hereditary folate malabsorption disorder of folate metabolism and transport UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009239 MONDO:0018555 True hypogonadotropic hypogonadism 24 without anosmia hypogonadotropic hypogonadism UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0009240 MONDO:0016624 True formiminoglutamic aciduria inherited deficiency anemia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009240 MONDO:0017313 True formiminoglutamic aciduria disorder of folate metabolism and transport UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009241 MONDO:0015159 True fountain syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009242 MONDO:0000942 True brittle cornea syndrome corneal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0009242 MONDO:0006025 True brittle cornea syndrome autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0009242 MONDO:0020066 True brittle cornea syndrome Ehlers-Danlos syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED -MONDO:0009247 MONDO:0015161 True frontofacionasal dysplasia multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009247 MONDO:0016643 True frontofacionasal dysplasia frontonasal dysplasia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING -MONDO:0009249 MONDO:0017689 True hereditary fructose intolerance disorder of fructose metabolism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009251 MONDO:0019225 True fructose-1,6-bisphosphatase deficiency disorder of gluconeogenesis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009252 MONDO:0017689 True essential fructosuria disorder of fructose metabolism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009253 MONDO:0015159 True Fryns syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009254 MONDO:0019251 True fucosidosis oligosaccharidosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009254 MONDO:0800088 True fucosidosis lysosomal storage disease with skeletal involvement UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009255 MONDO:0018116 True galactokinase deficiency galactosemia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0009257 MONDO:0018116 True galactose epimerase deficiency galactosemia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0009258 MONDO:0018116 True classic galactosemia galactosemia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0009258 MONDO:0019852 True classic galactosemia inherited primary ovarian failure UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING -MONDO:0009260 MONDO:0018149 True GM1 gangliosidosis type 1 GM1 gangliosidosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0009260 MONDO:0800088 True GM1 gangliosidosis type 1 lysosomal storage disease with skeletal involvement UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009261 MONDO:0018149 True GM1 gangliosidosis type 2 GM1 gangliosidosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0009262 MONDO:0018149 True GM1 gangliosidosis type 3 GM1 gangliosidosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0009263 MONDO:0015159 True GAPO syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009263 MONDO:0019287 True GAPO syndrome ectodermal dysplasia syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS -MONDO:0009265 MONDO:0016340 True Gaucher disease type I familial restrictive cardiomyopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING -MONDO:0009265 MONDO:0018150 True Gaucher disease type I Gaucher disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0009265 MONDO:0018374 True Gaucher disease type I secondary avascular necrosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009265 MONDO:0018383 True Gaucher disease type I osteonecrosis of genetic origin UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009265 MONDO:0020143 True Gaucher disease type I cerebral lipidosis with dementia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0009266 MONDO:0018150 True Gaucher disease type II Gaucher disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0009267 MONDO:0018150 True Gaucher disease type III Gaucher disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0009268 MONDO:0018150 True Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome Gaucher disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0009269 MONDO:0000127 True geleophysic dysplasia 1 geleophysic dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0009270 MONDO:0015161 True genito-palato-cardiac syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009272 MONDO:0019175 True German syndrome primary lymphedema UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009274 MONDO:0018230 True ghosal hematodiaphyseal dysplasia skeletal dysplasia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009231 MONDO:0019696 True acromesomelic dysplasia 2B acromesomelic dysplasia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0009237 MONDO:0005043 True focal epithelial hyperplasia hyperplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009239 MONDO:0018555 True hypogonadotropic hypogonadism 24 without anosmia hypogonadotropic hypogonadism UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0009253 MONDO:0002254 True Fryns syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009255 MONDO:0018116 True galactokinase deficiency galactosemia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0009257 MONDO:0018116 True galactose epimerase deficiency galactosemia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0009258 MONDO:0018116 True classic galactosemia galactosemia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0009269 MONDO:0000127 True geleophysic dysplasia 1 geleophysic dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS MONDO:0009276 MONDO:0000009 True Bernard-Soulier syndrome inherited bleeding disorder, platelet-type UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0009279 MONDO:0002254 True triple-A syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0009279 MONDO:0006025 True triple-A syndrome autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0009279 MONDO:0015129 True triple-A syndrome chronic primary adrenal insufficiency UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS -MONDO:0009281 MONDO:0000688 True glutaryl-CoA dehydrogenase deficiency inborn organic aciduria UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0009282 MONDO:0017714 True multiple acyl-CoA dehydrogenase deficiency acyl-CoA dehydrogenase deficiency UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009284 MONDO:0017909 True glutathione synthetase deficiency without 5-oxoprolinuria inherited glutathione synthetase deficiency UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0009287 MONDO:0002413 True glycogen storage disease due to glucose-6-phosphatase deficiency type IA glycogen storage disease I UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0009288 MONDO:0015134 True glycogen storage disease Ib constitutional neutropenia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009290 MONDO:0002412 True glycogen storage disease II disorder of glycogen metabolism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0009290 MONDO:0016340 True glycogen storage disease II familial restrictive cardiomyopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING -MONDO:0009290 MONDO:0017738 True glycogen storage disease II lysosomal glycogen storage disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009291 MONDO:0002412 True glycogen storage disease III disorder of glycogen metabolism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0009292 MONDO:0002412 True glycogen storage disease due to glycogen branching enzyme deficiency disorder of glycogen metabolism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0009293 MONDO:0002412 True glycogen storage disease V disorder of glycogen metabolism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0009294 MONDO:0002412 True glycogen storage disease VI disorder of glycogen metabolism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0009295 MONDO:0002412 True glycogen storage disease VII disorder of glycogen metabolism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0009297 MONDO:0006510 True familial renal glucosuria renal tubular transport disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0009297 MONDO:0019226 True familial renal glucosuria glucose transport disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009299 MONDO:0001967 True 46 XX gonadal dysgenesis gonadal dysgenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0009299 MONDO:0019852 True 46 XX gonadal dysgenesis inherited primary ovarian failure UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING -MONDO:0009300 MONDO:0017312 True Perrault syndrome 1 Perrault syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0009301 MONDO:0010765 True 46,XY sex reversal 7 46,XY complete gonadal dysgenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0009302 MONDO:0020040 True XY type gonadal dysgenesis-associated anomalies syndrome 46,XY disorder of sex development UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009303 MONDO:0007179 True anti-glomerular basement membrane disease autoimmune disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED -MONDO:0009305 MONDO:0003847 True granulocytopenia with immunoglobulin abnormality hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0009308 MONDO:0018305 True granulomatous disease, chronic, autosomal recessive, cytochrome b-negative chronic granulomatous disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0009309 MONDO:0018305 True granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 1 chronic granulomatous disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0009310 MONDO:0018305 True granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 chronic granulomatous disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0009312 MONDO:0020087 True lipodystrophy due to peptidic growth factors deficiency hereditary lipodystrophy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009315 MONDO:0000429 True congenital factor XII deficiency autosomal genetic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0009315 MONDO:0021181 True congenital factor XII deficiency inherited blood coagulation disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009318 MONDO:0019303 True Hallermann-Streiff syndrome premature aging syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009319 MONDO:0016987 True pantothenate kinase-associated neurodegeneration neuroacanthocytosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0009319 MONDO:0018117 True pantothenate kinase-associated neurodegeneration disorder of phospholipids, sphingolipids and fatty acids biosynthesis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009319 MONDO:0018307 True pantothenate kinase-associated neurodegeneration neurodegeneration with brain iron accumulation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0009320 MONDO:0015159 True Hall-Riggs syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009321 MONDO:0019054 True hallux varus-preaxial polysyndactyly syndrome congenital limb malformation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009324 MONDO:0019216 True Hartnup disease inborn disorder of amino acid transport UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009326 MONDO:0000465 True congenital heart block atrioventricular block UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0009329 MONDO:0009937 True pulmonary venoocclusive disease 2 pulmonary venoocclusive disease UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0009276 MONDO:0002254 True Bernard-Soulier syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0009290 MONDO:0002412 True glycogen storage disease II disorder of glycogen metabolism UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS +MONDO:0009291 MONDO:0002412 True glycogen storage disease III disorder of glycogen metabolism UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS +MONDO:0009292 MONDO:0002412 True glycogen storage disease due to glycogen branching enzyme deficiency disorder of glycogen metabolism UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS +MONDO:0009293 MONDO:0002412 True glycogen storage disease V disorder of glycogen metabolism UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS +MONDO:0009294 MONDO:0002412 True glycogen storage disease VI disorder of glycogen metabolism UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS +MONDO:0009295 MONDO:0002412 True glycogen storage disease VII disorder of glycogen metabolism UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS +MONDO:0009299 MONDO:0001967 True 46 XX gonadal dysgenesis gonadal dysgenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0009300 MONDO:0017312 True Perrault syndrome 1 Perrault syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0009301 MONDO:0010765 True 46,XY sex reversal 7 46,XY complete gonadal dysgenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0009303 MONDO:0007179 True anti-glomerular basement membrane disease autoimmune disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS +MONDO:0009308 MONDO:0018305 True granulomatous disease, chronic, autosomal recessive, cytochrome b-negative chronic granulomatous disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0009309 MONDO:0018305 True granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 1 chronic granulomatous disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0009310 MONDO:0018305 True granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 chronic granulomatous disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0009315 MONDO:0002242 True congenital factor XII deficiency coagulation protein disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009319 MONDO:0018307 True pantothenate kinase-associated neurodegeneration neurodegeneration with brain iron accumulation UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0009329 MONDO:0009937 True pulmonary venoocclusive disease 2 pulmonary venoocclusive disease UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS MONDO:0009330 MONDO:0005094 True hemangiopericytoma, malignant hemangiopericytoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009331 MONDO:0019716 True isolated hemihyperplasia overgrowth syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009333 MONDO:0019175 True mullerian derivatives-lymphangiectasia-polydactyly syndrome primary lymphedema UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009332 MONDO:0005570 True congenital hematological disorder hematologic disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009337 MONDO:0016256 True Hennekam lymphangiectasia-lymphedema syndrome 1 Hennekam syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0009338 MONDO:0003778 True hepatic veno-occlusive disease-immunodeficiency syndrome inborn error of immunity UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0009339 MONDO:0018841 True congenital bile acid synthesis defect 2 congenital bile acid synthesis defect UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0009341 MONDO:0015159 True Mowat-Wilson syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009341 MONDO:0015653 True Mowat-Wilson syndrome monogenic epilepsy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009342 MONDO:0015161 True Hirschsprung disease-hearing loss-polydactyly syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009345 MONDO:0019228 True histidinemia inborn disorder of histidine metabolism UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0009348 MONDO:0004952 True classic Hodgkin lymphoma Hodgkins lymphoma UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009349 MONDO:0016296 True holoprosencephaly 1 holoprosencephaly UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0009350 MONDO:0002254 True Holzgreve-Wagner-Rehder syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0009350 MONDO:0015161 True Holzgreve-Wagner-Rehder syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009351 MONDO:0000698 True homocarnosinosis gamma-amino butyric acid metabolism disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0009352 MONDO:0015327 True classic homocystinuria developmental anomaly of metabolic origin UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009353 MONDO:0017313 True homocystinuria due to methylene tetrahydrofolate reductase deficiency disorder of folate metabolism and transport UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009353 MONDO:0020127 True homocystinuria due to methylene tetrahydrofolate reductase deficiency hereditary peripheral neuropathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009354 MONDO:0018964 True methylcobalamin deficiency type cblE homocystinuria without methylmalonic aciduria UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009359 MONDO:0002254 True multinucleated neurons-anhydramnios-renal dysplasia-cerebellar hypoplasia-hydranencephaly syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0009359 MONDO:0006025 True multinucleated neurons-anhydramnios-renal dysplasia-cerebellar hypoplasia-hydranencephaly syndrome autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0009359 MONDO:0043009 True multinucleated neurons-anhydramnios-renal dysplasia-cerebellar hypoplasia-hydranencephaly syndrome hereditary lethal multiple congenital anomalies/dysmorphic syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009339 MONDO:0018841 True congenital bile acid synthesis defect 2 congenital bile acid synthesis defect UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0009348 MONDO:0004952 True classic Hodgkin lymphoma Hodgkins lymphoma UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009349 MONDO:0016296 True holoprosencephaly 1 holoprosencephaly UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS MONDO:0009360 MONDO:0016349 True hydrocephalus, nonsyndromic, autosomal recessive 1 congenital hydrocephalus UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0009363 MONDO:0015161 True hydrocephaly-tall stature-joint laxity syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009364 MONDO:0000171 True muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 muscular dystrophy-dystroglycanopathy, type A UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0009365 MONDO:0006037 True hydrolethalus syndrome 1 hydrolethalus syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0009366 MONDO:0002045 True normal pressure hydrocephalus communicating hydrocephalus UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0009367 MONDO:0003847 True McKusick-Kaufman syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0009367 MONDO:0015161 True McKusick-Kaufman syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009365 MONDO:0006037 True hydrolethalus syndrome 1 hydrolethalus syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS MONDO:0009368 MONDO:0000463 True urofacial syndrome type 1 Ochoa syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0009369 MONDO:0015193 True non-immune hydrops fetalis hydrops fetalis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009370 MONDO:0016001 True L-2-hydroxyglutaric aciduria 2-hydroxyglutaric aciduria UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0009371 MONDO:0019215 True 3-hydroxyisobutyric aciduria classic organic aciduria UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009372 MONDO:0017350 True encephalopathy due to hydroxykynureninuria inborn disorder of tryptophan metabolism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009373 MONDO:0017351 True seizures-intellectual disability due to hydroxylysinuria syndrome inborn disorder of lysine and hydroxylysine metabolism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009378 MONDO:0019238 True hyper-beta-alaninemia inborn disorder of pyrimidine metabolism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009369 MONDO:0015193 True non-immune hydrops fetalis hydrops fetalis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009379 MONDO:0002408 True Rotor syndrome hereditary hyperbilirubinemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0009380 MONDO:0002408 True Dubin-Johnson syndrome hereditary hyperbilirubinemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0009380 MONDO:0002254 True Dubin-Johnson syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0009380 MONDO:0002408 True Dubin-Johnson syndrome hereditary hyperbilirubinemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS MONDO:0009383 MONDO:0002408 True transient familial neonatal hyperbilirubinemia hereditary hyperbilirubinemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0009387 MONDO:0001336 True familial lipoprotein lipase deficiency familial hyperlipidemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0009387 MONDO:0018637 True familial lipoprotein lipase deficiency familial chylomicronemia syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0009388 MONDO:0004736 True hyperlysinemia inborn disorder of amino acid metabolism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0009388 MONDO:0017351 True hyperlysinemia inborn disorder of lysine and hydroxylysine metabolism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009394 MONDO:0005382 True juvenile Paget disease bone Paget disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0009395 MONDO:0002185 True hyperostosis corticalis generalisata hyperostosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0009395 MONDO:0018230 True hyperostosis corticalis generalisata skeletal dysplasia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009387 MONDO:0037748 True familial lipoprotein lipase deficiency hyperlipoproteinemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009393 MONDO:0002254 True ornithine translocase deficiency syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0009394 MONDO:0005382 True juvenile Paget disease bone Paget disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0009395 MONDO:0002185 True hyperostosis corticalis generalisata hyperostosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0009398 MONDO:0016596 True hyperphosphatasia with intellectual disability syndrome 1 hyperphosphatasia-intellectual disability syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0009400 MONDO:0023419 True hyperprolinemia type 1 hyperprolinemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0009401 MONDO:0023419 True hyperprolinemia type 2 hyperprolinemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0009402 MONDO:0015161 True acrofrontofacionasal dysostosis 2 multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009404 MONDO:0006025 True hypertelorism, microtia, facial clefting syndrome autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0009404 MONDO:0015159 True hypertelorism, microtia, facial clefting syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009405 MONDO:0019280 True cervical hypertrichosis-peripheral neuropathy syndrome hypertrichosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009405 MONDO:0020022 True cervical hypertrichosis-peripheral neuropathy syndrome central nervous system malformation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009406 MONDO:0005516 True hypertrichotic osteochondrodysplasia Cantu type osteochondrodysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0009411 MONDO:0016165 True autoimmune polyendocrine syndrome type 1 hereditary hypoparathyroidism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009411 MONDO:0017278 True autoimmune polyendocrine syndrome type 1 autoimmune polyendocrinopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0009413 MONDO:0015517 True immunodeficiency, common variable, 2 common variable immunodeficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0009414 MONDO:0002412 True glycogen storage disorder due to hepatic glycogen synthase deficiency disorder of glycogen metabolism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0009415 MONDO:0003847 True hypoglycemia, leucine-induced hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0009416 MONDO:0003847 True hypoinsulinemic hypoglycemia and body hemihypertrophy hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0009416 MONDO:0019716 True hypoinsulinemic hypoglycemia and body hemihypertrophy overgrowth syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009419 MONDO:0015770 True Woodhouse-Sakati syndrome congenital hypogonadotropic hypogonadism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009419 MONDO:0018307 True Woodhouse-Sakati syndrome neurodegeneration with brain iron accumulation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS -MONDO:0009419 MONDO:0044807 True Woodhouse-Sakati syndrome inherited dystonia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING -MONDO:0009424 MONDO:0015231 True Bartter disease type 2 Bartter syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0009426 MONDO:0002254 True hypoparathyroidism-retardation-dysmorphism syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0009426 MONDO:0006025 True hypoparathyroidism-retardation-dysmorphism syndrome autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0009426 MONDO:0015159 True hypoparathyroidism-retardation-dysmorphism syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009431 MONDO:0000044 True hereditary hypophosphatemic rickets with hypercalciuria hereditary hypophosphatemic rickets UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0009411 MONDO:0017278 True autoimmune polyendocrine syndrome type 1 autoimmune polyendocrinopathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0009412 MONDO:0024298 True scurvy vitamin deficiency disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009413 MONDO:0015517 True immunodeficiency, common variable, 2 common variable immunodeficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0009424 MONDO:0015231 True Bartter disease type 2 Bartter syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0009426 MONDO:0002254 True hypoparathyroidism-retardation-dysmorphism syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0009433 MONDO:0004933 True hypoplastic left heart syndrome 1 hypoplastic left heart syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0009434 MONDO:0021094 True hypoproteinemia, hypercatabolic immunodeficiency disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0009435 MONDO:0015159 True hypospadias-intellectual disability, Goldblatt type syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009440 MONDO:0018781 True ichthyosiform erythroderma, corneal involvement, and hearing loss KID syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0009441 MONDO:0017265 True autosomal recessive congenital ichthyosis 1 autosomal recessive congenital ichthyosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0009444 MONDO:0019287 True ichthyosis-alopecia-eclabion-ectropion-intellectual disability syndrome ectodermal dysplasia syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING -MONDO:0009445 MONDO:0100309 True ichthyosis-hepatosplenomegaly-cerebellar degeneration syndrome hereditary ataxia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009448 MONDO:0019216 True iminoglycinuria inborn disorder of amino acid transport UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009451 MONDO:0001222 True Nezelof syndrome congenital T-cell immunodeficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0009452 MONDO:0002254 True Vici syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0009452 MONDO:0006025 True Vici syndrome autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0009452 MONDO:0015161 True Vici syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009454 MONDO:0000133 True immunodeficiency-centromeric instability-facial anomalies syndrome 1 immunodeficiency-centromeric instability-facial anomalies syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0009458 MONDO:0015708 True Schimke immuno-osseous dysplasia immuno-osseous dysplasia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009461 MONDO:0004983 True spermatogenic failure 5 spermatogenic failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0009461 MONDO:0018394 True spermatogenic failure 5 male infertility with teratozoospermia due to single gene mutation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009465 MONDO:0006025 True multiple intestinal atresia autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0009468 MONDO:0006810 True pseudotumor cerebri intracranial hypertension UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0009469 MONDO:0019008 True benign recurrent intrahepatic cholestasis type 1 benign recurrent intrahepatic cholestasis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0009470 MONDO:0017579 True Baraitser-Winter syndrome 1 Baraitser-Winter cerebrofrontofacial syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0009475 MONDO:0019215 True isovaleric acidemia classic organic aciduria UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009477 MONDO:0015159 True Stromme syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009477 MONDO:0016575 True Stromme syndrome primary ciliary dyskinesia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED -MONDO:0009477 MONDO:0043009 True Stromme syndrome hereditary lethal multiple congenital anomalies/dysmorphic syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009478 MONDO:0018037 True combined immunodeficiency due to DOCK8 deficiency hyper-IgE syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0009479 MONDO:0006025 True Johanson-Blizzard syndrome autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0009479 MONDO:0015159 True Johanson-Blizzard syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009480 MONDO:0015369 True Joubert syndrome with oculorenal defect Joubert syndrome and related disorders UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009480 MONDO:0020022 True Joubert syndrome with oculorenal defect central nervous system malformation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009483 MONDO:0015159 True Kapur-Toriello syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009484 MONDO:0016575 True primary ciliary dyskinesia 1 primary ciliary dyskinesia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0009485 MONDO:0003847 True oculocerebrofacial syndrome, Kaufman type hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0009485 MONDO:0015159 True oculocerebrofacial syndrome, Kaufman type multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009486 MONDO:0006025 True autosomal recessive Kenny-Caffey syndrome autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0009486 MONDO:0016516 True autosomal recessive Kenny-Caffey syndrome Kenny-Caffey syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0009489 MONDO:0017666 True hereditary palmoplantar keratoderma, Gamborg-Nielsen type diffuse palmoplantar keratoderma UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009490 MONDO:0006025 True Papillon-Lefevre disease autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0009490 MONDO:0015978 True Papillon-Lefevre disease functional neutrophil defect UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009490 MONDO:0017666 True Papillon-Lefevre disease diffuse palmoplantar keratoderma UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009490 MONDO:0017739 True Papillon-Lefevre disease disorder of lysosomal-related organelles UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009490 MONDO:0019287 True Papillon-Lefevre disease ectodermal dysplasia syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED -MONDO:0009491 MONDO:0017666 True Haim-Munk syndrome diffuse palmoplantar keratoderma UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009491 MONDO:0017739 True Haim-Munk syndrome disorder of lysosomal-related organelles UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009492 MONDO:0019229 True succinyl-CoA:3-ketoacid CoA transferase deficiency inborn disorder of ketolysis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009493 MONDO:0100309 True Richards-Rundle syndrome hereditary ataxia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009495 MONDO:0015159 True Keutel syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009495 MONDO:0019701 True Keutel syndrome chondrodysplasia punctata UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009498 MONDO:0018230 True lethal Kniest-like dysplasia skeletal dysplasia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009499 MONDO:0019046 True Krabbe disease leukodystrophy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS -MONDO:0009499 MONDO:0019255 True Krabbe disease sphingolipidosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0009501 MONDO:0020123 True metabolic myopathy due to lactate transporter defect metabolic myopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009502 MONDO:0019169 True pyruvate dehydrogenase E2 deficiency pyruvate dehydrogenase deficiency UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0009503 MONDO:0019169 True pyruvate dehydrogenase E3-binding protein deficiency pyruvate dehydrogenase deficiency UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0009504 MONDO:0016796 True mitochondrial DNA depletion syndrome 9 mitochondrial DNA depletion syndrome, encephalomyopathic form UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009506 MONDO:0015978 True specific granule deficiency functional neutrophil defect UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009507 MONDO:0015159 True Lambert syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009509 MONDO:0000414 True Landau-Kleffner syndrome childhood electroclinical syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0009509 MONDO:0020072 True Landau-Kleffner syndrome childhood-onset epilepsy syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009511 MONDO:0015286 True Larsen-like syndrome, B3GAT3 type congenital disorder of glycosylation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0009511 MONDO:0015327 True Larsen-like syndrome, B3GAT3 type developmental anomaly of metabolic origin UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009511 MONDO:0018230 True Larsen-like syndrome, B3GAT3 type skeletal dysplasia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009512 MONDO:0019755 True lethal Larsen-like syndrome developmental defect during embryogenesis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009513 MONDO:0017612 True laryngo-onycho-cutaneous syndrome junctional epidermolysis bullosa UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING -MONDO:0009514 MONDO:0002254 True Laurence-Moon syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0009514 MONDO:0006025 True Laurence-Moon syndrome autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0009514 MONDO:0015159 True Laurence-Moon syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009514 MONDO:0015770 True Laurence-Moon syndrome congenital hypogonadotropic hypogonadism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009515 MONDO:0001822 True Norum disease hypolipoproteinemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0009515 MONDO:0018999 True Norum disease LCAT deficiency UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009516 MONDO:0018234 True absence deformity of leg-cataract syndrome dysostosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009516 MONDO:0019054 True absence deformity of leg-cataract syndrome congenital limb malformation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009517 MONDO:0002254 True Donohue syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0009517 MONDO:0006025 True Donohue syndrome autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0009517 MONDO:0015161 True Donohue syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009520 MONDO:0017713 True 3-hydroxy-3-methylglutaric aciduria disorder of fatty acid oxidation and ketogenesis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009520 MONDO:0019215 True 3-hydroxy-3-methylglutaric aciduria classic organic aciduria UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009522 MONDO:0019287 True Leukomelanoderma-infantilism-intellectual disability-hypodontia-hypotrichosis syndrome ectodermal dysplasia syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING -MONDO:0009523 MONDO:0015134 True Lichtenstein syndrome constitutional neutropenia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009524 MONDO:0015159 True intellectual disability-spasticity-ectrodactyly syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009524 MONDO:0018234 True intellectual disability-spasticity-ectrodactyly syndrome dysostosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009524 MONDO:0019054 True intellectual disability-spasticity-ectrodactyly syndrome congenital limb malformation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009525 MONDO:0016576 True split hand-foot malformation 3 split hand-foot malformation UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0009525 MONDO:0016961 True split hand-foot malformation 3 partial duplication of the long arm of chromosome 10 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009527 MONDO:0006025 True lipase deficiency, combined autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0009527 MONDO:0018637 True lipase deficiency, combined familial chylomicronemia syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0009528 MONDO:0017774 True chylomicron retention disease hypobetalipoproteinemia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0009441 MONDO:0017265 True autosomal recessive congenital ichthyosis 1 autosomal recessive congenital ichthyosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0009452 MONDO:0002254 True Vici syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0009454 MONDO:0000133 True immunodeficiency-centromeric instability-facial anomalies syndrome 1 immunodeficiency-centromeric instability-facial anomalies syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0009461 MONDO:0004983 True spermatogenic failure 5 spermatogenic failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0009469 MONDO:0019008 True benign recurrent intrahepatic cholestasis type 1 benign recurrent intrahepatic cholestasis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0009470 MONDO:0017579 True Baraitser-Winter syndrome 1 Baraitser-Winter cerebrofrontofacial syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0009478 MONDO:0018037 True combined immunodeficiency due to DOCK8 deficiency hyper-IgE syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0009484 MONDO:0016575 True primary ciliary dyskinesia 1 primary ciliary dyskinesia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0009486 MONDO:0016516 True autosomal recessive Kenny-Caffey syndrome Kenny-Caffey syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0009499 MONDO:0019046 True Krabbe disease leukodystrophy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS +MONDO:0009499 MONDO:0019255 True Krabbe disease sphingolipidosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0009502 MONDO:0019169 True pyruvate dehydrogenase E2 deficiency pyruvate dehydrogenase deficiency UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0009503 MONDO:0019169 True pyruvate dehydrogenase E3-binding protein deficiency pyruvate dehydrogenase deficiency UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0009509 MONDO:0002254 True Landau-Kleffner syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0009514 MONDO:0002254 True Laurence-Moon syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0009517 MONDO:0002254 True Donohue syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0009525 MONDO:0016576 True split hand-foot malformation 3 split hand-foot malformation UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS MONDO:0009529 MONDO:0009563 True pyruvate dehydrogenase E3 deficiency maple syrup urine disease UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0009529 MONDO:0018424 True pyruvate dehydrogenase E3 deficiency inherited lipoic acid biosynthesis defect UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009529 MONDO:0019169 True pyruvate dehydrogenase E3 deficiency pyruvate dehydrogenase deficiency UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING -MONDO:0009530 MONDO:0002525 True lipoid proteinosis inherited lipid metabolism disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0009530 MONDO:0021154 True lipoid proteinosis dermis disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009532 MONDO:0002254 True Miller-Dieker lissencephaly syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0009532 MONDO:0015146 True Miller-Dieker lissencephaly syndrome classic lissencephaly UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009532 MONDO:0022754 True Miller-Dieker lissencephaly syndrome chromosome 17p deletion UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009533 MONDO:0015161 True Dahlberg-Borer-Newcomer syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009533 MONDO:0019287 True Dahlberg-Borer-Newcomer syndrome ectodermal dysplasia syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING -MONDO:0009537 MONDO:0002429 True lymphoid interstitial pneumonia idiopathic interstitial pneumonia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0009543 MONDO:0015159 True prominent glabella-microcephaly-hypogenitalism syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009548 MONDO:0017624 True renal hypomagnesemia 5 with ocular involvement familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009550 MONDO:0017624 True renal hypomagnesemia 3 familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009552 MONDO:0017666 True mal de Meleda diffuse palmoplantar keratoderma UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009554 MONDO:0017398 True 3MC syndrome 3 3MC syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0009557 MONDO:0016584 True mandibuloacral dysplasia with type A lipodystrophy mandibuloacral dysplasia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0009557 MONDO:0021106 True mandibuloacral dysplasia with type A lipodystrophy laminopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009558 MONDO:0002457 True Treacher Collins syndrome 3 Treacher-Collins syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0009561 MONDO:0019251 True alpha-mannosidosis oligosaccharidosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009561 MONDO:0800088 True alpha-mannosidosis lysosomal storage disease with skeletal involvement UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009562 MONDO:0019251 True beta-mannosidosis oligosaccharidosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009562 MONDO:0020127 True beta-mannosidosis hereditary peripheral neuropathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009562 MONDO:0800088 True beta-mannosidosis lysosomal storage disease with skeletal involvement UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009563 MONDO:0000688 True maple syrup urine disease inborn organic aciduria UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0009563 MONDO:0019242 True maple syrup urine disease inborn disorder of branched-chain amino acid metabolism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009564 MONDO:0015159 True Marden-Walker syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009564 MONDO:0015168 True Marden-Walker syndrome arthrogryposis multiplex congenita UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING -MONDO:0009565 MONDO:0015159 True microcephaly-glomerulonephritis-marfanoid habitus syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009566 MONDO:0015159 True marfanoid habitus-autosomal recessive intellectual disability syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009567 MONDO:0002254 True Marinesco-Sjogren syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0009567 MONDO:0020046 True Marinesco-Sjogren syndrome autosomal recessive degenerative and progressive cerebellar ataxia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009568 MONDO:0019064 True mast syndrome hereditary spastic paraplegia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0009570 MONDO:0015159 True McDonough syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009571 MONDO:0018921 True Meckel syndrome, type 1 Meckel syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0009532 MONDO:0002254 True Miller-Dieker lissencephaly syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0009537 MONDO:0002429 True lymphoid interstitial pneumonia idiopathic interstitial pneumonia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0009554 MONDO:0017398 True 3MC syndrome 3 3MC syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0009557 MONDO:0016584 True mandibuloacral dysplasia with type A lipodystrophy mandibuloacral dysplasia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0009558 MONDO:0002457 True Treacher Collins syndrome 3 Treacher-Collins syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0009568 MONDO:0019064 True mast syndrome hereditary spastic paraplegia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0009571 MONDO:0018921 True Meckel syndrome, type 1 Meckel syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS MONDO:0009575 MONDO:0000152 True thiamine-responsive megaloblastic anemia syndrome thiamine-responsive dysfunction syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0009575 MONDO:0006025 True thiamine-responsive megaloblastic anemia syndrome autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0009575 MONDO:0020112 True thiamine-responsive megaloblastic anemia syndrome vitamin B12- and folate-independent constitutional megaloblastic anemia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009576 MONDO:0000942 True megalocornea corneal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0009576 MONDO:0003847 True megalocornea hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0009579 MONDO:0019690 True Frank-Ter Haar syndrome filamin-related bone disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009580 MONDO:0019502 True intellectual disability, autosomal recessive 1 autosomal recessive non-syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0009581 MONDO:0015159 True intellectual disability-dysmorphism-hypogonadism-diabetes mellitus syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009584 MONDO:0015159 True intellectual disability, Buenos-Aires type multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009588 MONDO:0018230 True Langer mesomelic dysplasia skeletal dysplasia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009589 MONDO:0015161 True mesomelic dwarfism-cleft palate-camptodactyly syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009589 MONDO:0018230 True mesomelic dwarfism-cleft palate-camptodactyly syndrome skeletal dysplasia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009591 MONDO:0018868 True metachromatic leukodystrophy, juvenile form metachromatic leukodystrophy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009592 MONDO:0018230 True metaphyseal acroscyphodysplasia skeletal dysplasia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009593 MONDO:0016763 True spondylometaphyseal dysplasia, Sedaghatian type spondylometaphyseal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0009594 MONDO:0018230 True metaphyseal chondrodysplasia, Kaitila type skeletal dysplasia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009595 MONDO:0006025 True cartilage-hair hypoplasia autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0009595 MONDO:0015708 True cartilage-hair hypoplasia immuno-osseous dysplasia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009595 MONDO:0019287 True cartilage-hair hypoplasia ectodermal dysplasia syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED -MONDO:0009597 MONDO:0018230 True metaphyseal chondrodysplasia, Spahr type skeletal dysplasia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009599 MONDO:0018230 True metaphyseal dysostosis-intellectual disability-conductive deafness syndrome skeletal dysplasia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009603 MONDO:0019215 True 3-hydroxyisobutyryl-CoA hydrolase deficiency classic organic aciduria UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009607 MONDO:0019222 True methionine adenosyltransferase deficiency inborn disorder of methionine cycle and sulfur amino acid metabolism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009609 MONDO:0018964 True methylcobalamin deficiency type cblG homocystinuria without methylmalonic aciduria UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009610 MONDO:0017359 True 3-methylglutaconic aciduria type 1 3-methylglutaconic aciduria UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0009611 MONDO:0017359 True 3-methylglutaconic aciduria type 4 3-methylglutaconic aciduria UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0009612 MONDO:0002012 True methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency methylmalonic acidemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0009612 MONDO:0019215 True methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency classic organic aciduria UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009613 MONDO:0017214 True methylmalonic aciduria, cblA type vitamin B12-responsive methylmalonic acidemia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009614 MONDO:0017214 True methylmalonic aciduria, cblB type vitamin B12-responsive methylmalonic acidemia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009617 MONDO:0016660 True microcephaly 1, primary, autosomal recessive autosomal recessive primary microcephaly UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0009618 MONDO:0015159 True microcephaly-cardiomyopathy syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009620 MONDO:0003778 True Say-Barber-Miller syndrome inborn error of immunity UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009620 MONDO:0015159 True Say-Barber-Miller syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009621 MONDO:0015159 True microcephaly-cervical spine fusion anomalies syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009622 MONDO:0015159 True Jawad syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009623 MONDO:0006025 True Nijmegen breakage syndrome autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0009623 MONDO:0015161 True Nijmegen breakage syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009580 MONDO:0019502 True intellectual disability, autosomal recessive 1 autosomal recessive non-syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0009588 MONDO:0023599 True Langer mesomelic dysplasia mesomelic dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009593 MONDO:0016763 True spondylometaphyseal dysplasia, Sedaghatian type spondylometaphyseal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0009610 MONDO:0017359 True 3-methylglutaconic aciduria type 1 3-methylglutaconic aciduria UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0009611 MONDO:0017359 True 3-methylglutaconic aciduria type 4 3-methylglutaconic aciduria UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0009612 MONDO:0002012 True methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency methylmalonic acidemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0009617 MONDO:0016660 True microcephaly 1, primary, autosomal recessive autosomal recessive primary microcephaly UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0009623 MONDO:0021190 True Nijmegen breakage syndrome DNA repair disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009624 MONDO:0000181 True microcephaly and chorioretinopathy 1 microcephaly and chorioretinopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0009624 MONDO:0002254 True microcephaly and chorioretinopathy 1 syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0009624 MONDO:0019118 True microcephaly and chorioretinopathy 1 inherited retinal dystrophy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0009625 MONDO:0017868 True diencephalic-mesencephalic junction dysplasia syndrome 1 diencephalic-mesencephalic junction dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0009626 MONDO:0006025 True pseudo-TORCH syndrome autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0009627 MONDO:0002254 True Galloway-Mowat syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0009627 MONDO:0002254 True Galloway-Mowat syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0009629 MONDO:0015426 True Desbuquois dysplasia 1 Desbuquois dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0009630 MONDO:0000170 True microphthalmia, isolated, with coloboma 4 microphthalmia, isolated, with coloboma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0009631 MONDO:0000062 True isolated microphthalmia 1 isolated microphthalmia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0009636 MONDO:0019236 True mitochondrial DNA depletion syndrome 3 (hepatocerebral type) inborn disorder of purine metabolism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009636 MONDO:0100512 True mitochondrial DNA depletion syndrome 3 (hepatocerebral type) mitochondrial DNA depletion syndrome, hepatocerebral form UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009642 MONDO:0015375 True orofaciodigital syndrome type II orofaciodigital syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0009643 MONDO:0020480 True sulfite oxidase deficiency due to molybdenum cofactor deficiency type A sulfite oxidase deficiency due to molybdenum cofactor deficiency UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0009644 MONDO:0020480 True sulfite oxidase deficiency due to molybdenum cofactor deficiency type B sulfite oxidase deficiency due to molybdenum cofactor deficiency UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0009631 MONDO:0000062 True isolated microphthalmia 1 isolated microphthalmia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0009637 MONDO:0002921 True inborn mitochondrial myopathy congenital structural myopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0009642 MONDO:0015375 True orofaciodigital syndrome type II orofaciodigital syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0009643 MONDO:0020480 True sulfite oxidase deficiency due to molybdenum cofactor deficiency type A sulfite oxidase deficiency due to molybdenum cofactor deficiency UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0009644 MONDO:0020480 True sulfite oxidase deficiency due to molybdenum cofactor deficiency type B sulfite oxidase deficiency due to molybdenum cofactor deficiency UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS MONDO:0009646 MONDO:0044645 True monosomy 7 myelodysplasia and leukemia syndrome 1 familial monosomy 7 syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0009648 MONDO:0015914 True peripheral motor neuropathy-dysautonomia syndrome primary orthostatic hypotension UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009649 MONDO:0016820 True moyamoya disease 1 Moyamoya disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0009650 MONDO:0800088 True mucolipidosis type II lysosomal storage disease with skeletal involvement UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009652 MONDO:0031422 True GNPTG-mucolipidosis familial mucolipidosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0009652 MONDO:0800088 True GNPTG-mucolipidosis lysosomal storage disease with skeletal involvement UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009653 MONDO:0031422 True mucolipidosis type IV familial mucolipidosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0009655 MONDO:0018937 True mucopolysaccharidosis type 3A mucopolysaccharidosis type 3 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0009655 MONDO:0800088 True mucopolysaccharidosis type 3A lysosomal storage disease with skeletal involvement UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009656 MONDO:0018937 True mucopolysaccharidosis type 3B mucopolysaccharidosis type 3 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0009656 MONDO:0800088 True mucopolysaccharidosis type 3B lysosomal storage disease with skeletal involvement UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009657 MONDO:0018937 True mucopolysaccharidosis type 3C mucopolysaccharidosis type 3 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0009657 MONDO:0800088 True mucopolysaccharidosis type 3C lysosomal storage disease with skeletal involvement UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009658 MONDO:0018937 True mucopolysaccharidosis type 3D mucopolysaccharidosis type 3 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0009658 MONDO:0800088 True mucopolysaccharidosis type 3D lysosomal storage disease with skeletal involvement UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009659 MONDO:0018938 True mucopolysaccharidosis type 4A mucopolysaccharidosis type 4 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0009659 MONDO:0800088 True mucopolysaccharidosis type 4A lysosomal storage disease with skeletal involvement UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009660 MONDO:0018938 True mucopolysaccharidosis type 4B mucopolysaccharidosis type 4 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0009660 MONDO:0800088 True mucopolysaccharidosis type 4B lysosomal storage disease with skeletal involvement UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009661 MONDO:0019249 True mucopolysaccharidosis type 6 mucopolysaccharidosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0009661 MONDO:0800088 True mucopolysaccharidosis type 6 lysosomal storage disease with skeletal involvement UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009662 MONDO:0019249 True mucopolysaccharidosis type 7 mucopolysaccharidosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0009662 MONDO:0800088 True mucopolysaccharidosis type 7 lysosomal storage disease with skeletal involvement UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009664 MONDO:0002254 True mulibrey nanism syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0009664 MONDO:0006025 True mulibrey nanism autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0009665 MONDO:0015454 True biotinidase deficiency multiple carboxylase deficiency UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0009665 MONDO:0020127 True biotinidase deficiency hereditary peripheral neuropathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009666 MONDO:0015454 True holocarboxylase synthetase deficiency multiple carboxylase deficiency UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0009655 MONDO:0018937 True mucopolysaccharidosis type 3A mucopolysaccharidosis type 3 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0009656 MONDO:0018937 True mucopolysaccharidosis type 3B mucopolysaccharidosis type 3 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0009657 MONDO:0018937 True mucopolysaccharidosis type 3C mucopolysaccharidosis type 3 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0009658 MONDO:0018937 True mucopolysaccharidosis type 3D mucopolysaccharidosis type 3 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0009659 MONDO:0018938 True mucopolysaccharidosis type 4A mucopolysaccharidosis type 4 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0009660 MONDO:0018938 True mucopolysaccharidosis type 4B mucopolysaccharidosis type 4 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0009661 MONDO:0002254 True mucopolysaccharidosis type 6 syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0009661 MONDO:0019249 True mucopolysaccharidosis type 6 mucopolysaccharidosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0009662 MONDO:0019249 True mucopolysaccharidosis type 7 mucopolysaccharidosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0009664 MONDO:0002254 True mulibrey nanism syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0009667 MONDO:0000171 True muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3 muscular dystrophy-dystroglycanopathy, type A UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0009668 MONDO:0017415 True lethal multiple pterygium syndrome multiple pterygium syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009669 MONDO:0019079 True spinal muscular atrophy, type 1 proximal spinal muscular atrophy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009670 MONDO:0002254 True lethal congenital contracture syndrome 1 syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0009670 MONDO:0015161 True lethal congenital contracture syndrome 1 multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009670 MONDO:0015929 True lethal congenital contracture syndrome 1 thoracic malformation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009670 MONDO:0017436 True lethal congenital contracture syndrome 1 lethal congenital contracture syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0009671 MONDO:0019952 True intellectual disability-myopathy-short stature-endocrine defect syndrome congenital myopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING -MONDO:0009672 MONDO:0019079 True spinal muscular atrophy, type III proximal spinal muscular atrophy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009673 MONDO:0019079 True spinal muscular atrophy, type II proximal spinal muscular atrophy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009675 MONDO:0015152 True autosomal recessive limb-girdle muscular dystrophy type 2A autosomal recessive limb-girdle muscular dystrophy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0009676 MONDO:0015152 True autosomal recessive limb-girdle muscular dystrophy type 2B autosomal recessive limb-girdle muscular dystrophy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0009676 MONDO:0016145 True autosomal recessive limb-girdle muscular dystrophy type 2B qualitative or quantitative defects of dysferlin UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009677 MONDO:0015152 True autosomal recessive limb-girdle muscular dystrophy type 2C autosomal recessive limb-girdle muscular dystrophy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0009677 MONDO:0016143 True autosomal recessive limb-girdle muscular dystrophy type 2C qualitative or quantitative defects of gamma-sarcoglycan UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009677 MONDO:0016333 True autosomal recessive limb-girdle muscular dystrophy type 2C familial dilated cardiomyopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0009668 MONDO:0002254 True lethal multiple pterygium syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009670 MONDO:0017436 True lethal congenital contracture syndrome 1 lethal congenital contracture syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0009675 MONDO:0015152 True autosomal recessive limb-girdle muscular dystrophy type 2A autosomal recessive limb-girdle muscular dystrophy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0009676 MONDO:0015152 True autosomal recessive limb-girdle muscular dystrophy type 2B autosomal recessive limb-girdle muscular dystrophy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0009677 MONDO:0015152 True autosomal recessive limb-girdle muscular dystrophy type 2C autosomal recessive limb-girdle muscular dystrophy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS MONDO:0009678 MONDO:0000171 True muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 muscular dystrophy-dystroglycanopathy, type A UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0009680 MONDO:0019950 True congenital muscular dystrophy-infantile cataract-hypogonadism syndrome congenital muscular dystrophy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009681 MONDO:0000355 True Ullrich congenital muscular dystrophy 1 Ullrich congenital muscular dystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0009683 MONDO:0015152 True autosomal recessive limb-girdle muscular dystrophy type 2H autosomal recessive limb-girdle muscular dystrophy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0009683 MONDO:0016153 True autosomal recessive limb-girdle muscular dystrophy type 2H qualitative or quantitative defects of TRIM32 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009685 MONDO:0018949 True Miyoshi myopathy distal myopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED -MONDO:0009689 MONDO:0018940 True congenital myasthenic syndrome 6 congenital myasthenic syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0009691 MONDO:0000607 True mycosis fungoides primary cutaneous T-cell non-Hodgkin lymphoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0009691 MONDO:0015821 True mycosis fungoides mycosis fungoides and variants UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009692 MONDO:0015610 True primary myelofibrosis acquired aplastic anemia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009692 MONDO:0020076 True primary myelofibrosis myeloproliferative neoplasm UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0009693 MONDO:0004959 True plasma cell myeloma plasma cell neoplasm UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0009693 MONDO:0005170 True plasma cell myeloma myeloid neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0009694 MONDO:0015978 True myeloperoxidase deficiency functional neutrophil defect UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009696 MONDO:0000415 True juvenile myoclonic epilepsy adolescence-adult electroclinical syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0009696 MONDO:0017704 True juvenile myoclonic epilepsy familial partial epilepsy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009697 MONDO:0020074 True Lafora disease progressive myoclonus epilepsy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0009698 MONDO:0020074 True Unverricht-Lundborg syndrome progressive myoclonus epilepsy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0009699 MONDO:0020074 True action myoclonus-renal failure syndrome progressive myoclonus epilepsy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0009704 MONDO:0015515 True carnitine palmitoyl transferase II deficiency, myopathic form carnitine palmitoyltransferase II deficiency UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009705 MONDO:0017716 True carnitine palmitoyl transferase 1A deficiency disorder of carnitine cycle and carnitine transport UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009706 MONDO:0020123 True hereditary myopathy with lactic acidosis due to ISCU deficiency metabolic myopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009708 MONDO:0019952 True myopathy, myosin storage, autosomal recessive congenital myopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0009709 MONDO:0015705 True myopathy, centronuclear, 2 autosomal recessive centronuclear myopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0009710 MONDO:0019119 True Thomsen and Becker disease muscular channelopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009712 MONDO:0018948 True congenital multicore myopathy with external ophthalmoplegia multiminicore myopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009683 MONDO:0015152 True autosomal recessive limb-girdle muscular dystrophy type 2H autosomal recessive limb-girdle muscular dystrophy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0009689 MONDO:0018940 True congenital myasthenic syndrome 6 congenital myasthenic syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0009691 MONDO:0000607 True mycosis fungoides primary cutaneous T-cell non-Hodgkin lymphoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0009692 MONDO:0020076 True primary myelofibrosis myeloproliferative neoplasm UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0009693 MONDO:0004959 True plasma cell myeloma plasma cell neoplasm UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0009697 MONDO:0020074 True Lafora disease progressive myoclonus epilepsy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0009698 MONDO:0020074 True Unverricht-Lundborg syndrome progressive myoclonus epilepsy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0009699 MONDO:0020074 True action myoclonus-renal failure syndrome progressive myoclonus epilepsy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0009705 MONDO:0037858 True carnitine palmitoyl transferase 1A deficiency inherited fatty acid metabolism disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009713 MONDO:0001384 True myopia 18, autosomal recessive myopia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0009717 MONDO:0016151 True Schwartz-Jampel syndrome qualitative or quantitative defects of perlecan UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009718 MONDO:0005420 True myxedema hypothyroidism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0009720 MONDO:0015161 True Keipert syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009722 MONDO:0019952 True Bailey-Bloch congenital myopathy congenital myopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0009723 MONDO:0016387 True Leigh syndrome mitochondrial oxidative phosphorylation disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009723 MONDO:0020127 True Leigh syndrome hereditary peripheral neuropathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009726 MONDO:0006025 True proteosome-associated autoinflammatory syndrome autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0009726 MONDO:0019751 True proteosome-associated autoinflammatory syndrome autoinflammatory syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009717 MONDO:0002254 True Schwartz-Jampel syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009718 MONDO:0005420 True myxedema hypothyroidism UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0009727 MONDO:0000389 True atelosteogenesis type II atelosteogenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0009728 MONDO:0005308 True nephronophthisis 1 ciliopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0009728 MONDO:0019005 True nephronophthisis 1 nephronophthisis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0009731 MONDO:0015161 True nephrosis-deafness-urinary tract-digital malformations syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009732 MONDO:0002350 True congenital nephrotic syndrome, Finnish type familial nephrotic syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0009733 MONDO:0002350 True nephrotic syndrome, type 4 familial nephrotic syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0009734 MONDO:0005803 True hyperinsulinemic hypoglycemia, familial, 1 hyperinsulinemic hypoglycemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0009735 MONDO:0006025 True Netherton syndrome autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0009735 MONDO:0015947 True Netherton syndrome inherited ichthyosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009735 MONDO:0018037 True Netherton syndrome hyper-IgE syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS -MONDO:0009736 MONDO:0000179 True Neu-Laxova syndrome 1 Neu-Laxova syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0009737 MONDO:0019251 True galactosialidosis oligosaccharidosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009737 MONDO:0800088 True galactosialidosis lysosomal storage disease with skeletal involvement UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009738 MONDO:0017734 True sialidosis type 2 sialidosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009738 MONDO:0031422 True sialidosis type 2 familial mucolipidosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0009738 MONDO:0800088 True sialidosis type 2 lysosomal storage disease with skeletal involvement UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009740 MONDO:0015159 True neurofaciodigitorenal syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009744 MONDO:0016295 True neuronal ceroid lipofuscinosis 1 neuronal ceroid lipofuscinosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0009745 MONDO:0015674 True neuronal ceroid lipofuscinosis 5 late infantile neuronal ceroid lipofuscinosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009745 MONDO:0016295 True neuronal ceroid lipofuscinosis 5 neuronal ceroid lipofuscinosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0009746 MONDO:0015364 True hereditary sensory and autonomic neuropathy type 4 hereditary sensory and autonomic neuropathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0009747 MONDO:0100512 True mitochondrial DNA depletion syndrome 6 (hepatocerebral type) mitochondrial DNA depletion syndrome, hepatocerebral form UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009748 MONDO:0015150 True hereditary sensory and autonomic neuropathy with spastic paraplegia complex hereditary spastic paraplegia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009748 MONDO:0020127 True hereditary sensory and autonomic neuropathy with spastic paraplegia hereditary peripheral neuropathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009728 MONDO:0019005 True nephronophthisis 1 nephronophthisis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0009732 MONDO:0002350 True congenital nephrotic syndrome, Finnish type familial nephrotic syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0009733 MONDO:0002350 True nephrotic syndrome, type 4 familial nephrotic syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0009734 MONDO:0005803 True hyperinsulinemic hypoglycemia, familial, 1 hyperinsulinemic hypoglycemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0009735 MONDO:0002254 True Netherton syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0009736 MONDO:0000179 True Neu-Laxova syndrome 1 Neu-Laxova syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0009744 MONDO:0016295 True neuronal ceroid lipofuscinosis 1 neuronal ceroid lipofuscinosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0009745 MONDO:0016295 True neuronal ceroid lipofuscinosis 5 neuronal ceroid lipofuscinosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0009746 MONDO:0015364 True hereditary sensory and autonomic neuropathy type 4 hereditary sensory and autonomic neuropathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS MONDO:0009749 MONDO:0000128 True giant axonal neuropathy 1 giant axonal neuropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0009751 MONDO:0015364 True neuropathy, hereditary sensory, atypical hereditary sensory and autonomic neuropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED MONDO:0009755 MONDO:0005073 True neutrophil actin dysfunction melanocytic nevus UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009758 MONDO:0016293 True congenital stationary night blindness 1B congenital stationary night blindness UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0009759 MONDO:0000141 True mosaic variegated aneuploidy syndrome 1 mosaic variegated aneuploidy syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0009760 MONDO:0015204 True Norman-Roberts syndrome microlissencephaly UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0009761 MONDO:0002013 True cystic hygroma lymphangioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0009762 MONDO:0005712 True nystagmus, congenital, autosomal recessive congenital nystagmus UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0009764 MONDO:0005328 True ocular motor apraxia, Cogan type eye disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0009767 MONDO:0017305 True oculocerebral hypopigmentation syndrome, Cross type syndromic oculocutaneous albinism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009769 MONDO:0015159 True oculo-palato-cerebral syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009770 MONDO:0017398 True 3MC syndrome 1 3MC syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0009771 MONDO:0019287 True oculotrichodysplasia ectodermal dysplasia syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING -MONDO:0009773 MONDO:0017666 True odonto-onycho-dermal dysplasia diffuse palmoplantar keratoderma UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009774 MONDO:0017919 True cloacal exstrophy exstrophy-epispadias complex UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0009775 MONDO:0016293 True Oguchi disease-1 congenital stationary night blindness UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0009776 MONDO:0004983 True spermatogenic failure 1 spermatogenic failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0009777 MONDO:0015159 True Oliver syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009779 MONDO:0006025 True autosomal recessive omodysplasia autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0009779 MONDO:0017136 True autosomal recessive omodysplasia omodysplasia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0009780 MONDO:0015159 True lethal omphalocele-cleft palate syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009758 MONDO:0016293 True congenital stationary night blindness 1B congenital stationary night blindness UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0009759 MONDO:0000141 True mosaic variegated aneuploidy syndrome 1 mosaic variegated aneuploidy syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0009761 MONDO:0002013 True cystic hygroma lymphangioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0009762 MONDO:0005712 True nystagmus, congenital, autosomal recessive congenital nystagmus UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0009770 MONDO:0017398 True 3MC syndrome 1 3MC syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0009775 MONDO:0016293 True Oguchi disease-1 congenital stationary night blindness UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0009776 MONDO:0004983 True spermatogenic failure 1 spermatogenic failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0009779 MONDO:0017136 True autosomal recessive omodysplasia omodysplasia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS MONDO:0009783 MONDO:0000090 True progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1 progressive external ophthalmoplegia with mitochondrial DNA deletions UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0009786 MONDO:0043878 True optic atrophy 6 hereditary optic atrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0009787 MONDO:0017359 True 3-methylglutaconic aciduria type 3 3-methylglutaconic aciduria UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0009792 MONDO:0015161 True ichthyosis-oral and digital anomalies syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009792 MONDO:0015947 True ichthyosis-oral and digital anomalies syndrome inherited ichthyosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009793 MONDO:0015375 True orofaciodigital syndrome III orofaciodigital syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0009794 MONDO:0015375 True orofaciodigital syndrome IV orofaciodigital syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0009794 MONDO:0015929 True orofaciodigital syndrome IV thoracic malformation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009794 MONDO:0019691 True orofaciodigital syndrome IV short rib dysplasia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009795 MONDO:0015375 True orofaciodigital syndrome IX orofaciodigital syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0009796 MONDO:0001898 True ornithine aminotransferase deficiency optic choroid disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0009796 MONDO:0017356 True ornithine aminotransferase deficiency inborn disorder of ornithine metabolism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009796 MONDO:0020127 True ornithine aminotransferase deficiency hereditary peripheral neuropathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009797 MONDO:0019238 True orotic aciduria inborn disorder of pyrimidine metabolism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0009797 MONDO:0020112 True orotic aciduria vitamin B12- and folate-independent constitutional megaloblastic anemia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009787 MONDO:0017359 True 3-methylglutaconic aciduria type 3 3-methylglutaconic aciduria UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0009793 MONDO:0015375 True orofaciodigital syndrome III orofaciodigital syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0009794 MONDO:0015375 True orofaciodigital syndrome IV orofaciodigital syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0009795 MONDO:0015375 True orofaciodigital syndrome IX orofaciodigital syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS MONDO:0009807 MONDO:0005089 True osteosarcoma sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0009808 MONDO:0000631 True osteoid osteoma bone benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009808 MONDO:0045052 True osteoid osteoma benign osteogenic neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009810 MONDO:0019707 True autosomal recessive distal osteolysis syndrome primary osteolysis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009813 MONDO:0005246 True chronic recurrent multifocal osteomyelitis osteomyelitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0009813 MONDO:0019751 True chronic recurrent multifocal osteomyelitis autoinflammatory syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009815 MONDO:0019026 True autosomal recessive osteopetrosis 1 autosomal recessive osteopetrosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0009809 MONDO:0002254 True multicentric osteolysis, nodulosis, and arthropathy syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009813 MONDO:0005246 True chronic recurrent multifocal osteomyelitis osteomyelitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0009815 MONDO:0019026 True autosomal recessive osteopetrosis 1 autosomal recessive osteopetrosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0009816 MONDO:0019026 True autosomal recessive osteopetrosis 2 autosomal recessive osteopetrosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0009817 MONDO:0019026 True autosomal recessive osteopetrosis 5 autosomal recessive osteopetrosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0009818 MONDO:0019026 True autosomal recessive osteopetrosis 3 autosomal recessive osteopetrosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0009820 MONDO:0002254 True osteoporosis-pseudoglioma syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0009820 MONDO:0006025 True osteoporosis-pseudoglioma syndrome autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0009821 MONDO:0019702 True lethal osteosclerotic bone dysplasia neonatal osteosclerotic dysplasia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009822 MONDO:0015161 True otoonychoperoneal syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009822 MONDO:0018234 True otoonychoperoneal syndrome dysostosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009823 MONDO:0002474 True primary hyperoxaluria type 1 primary hyperoxaluria UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0009824 MONDO:0002474 True primary hyperoxaluria type 2 primary hyperoxaluria UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0009830 MONDO:0005180 True parkinsonian-pyramidal syndrome Parkinson disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0009820 MONDO:0002254 True osteoporosis-pseudoglioma syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0009823 MONDO:0002474 True primary hyperoxaluria type 1 primary hyperoxaluria UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0009824 MONDO:0002474 True primary hyperoxaluria type 2 primary hyperoxaluria UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0009830 MONDO:0005180 True parkinsonian-pyramidal syndrome Parkinson disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS MONDO:0009831 MONDO:0002516 True malignant pancreatic neoplasm digestive system cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0009831 MONDO:0021040 True malignant pancreatic neoplasm pancreatic neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009833 MONDO:0002254 True Shwachman-Diamond syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0009837 MONDO:0002363 True choroid plexus papilloma papilloma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0009833 MONDO:0002254 True Shwachman-Diamond syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0009835 MONDO:0006009 True subacute sclerosing panencephalitis viral encephalitis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0009837 MONDO:0002363 True choroid plexus papilloma papilloma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0009837 MONDO:0044764 True choroid plexus papilloma benign choroid plexus neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009839 MONDO:0020488 True progressive supranuclear palsy-parkinsonism syndrome atypical progressive supranuclear palsy syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009839 MONDO:0024237 True progressive supranuclear palsy-parkinsonism syndrome inherited neurodegenerative disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009841 MONDO:0024237 True PEHO syndrome inherited neurodegenerative disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009843 MONDO:0017226 True hypomyelinating leukodystrophy 3 Pelizaeus-Merzbacher-like disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009845 MONDO:0018234 True pelviscapular dysplasia dysostosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009845 MONDO:0019054 True pelviscapular dysplasia congenital limb malformation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009848 MONDO:0019296 True dissecting cellulitis of the scalp subcutaneous tissue disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009849 MONDO:0017708 True hyperimmunoglobulinemia D with periodic fever mevalonate kinase deficiency UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009852 MONDO:0000424 True hereditary intrinsic factor deficiency inborn vitamin B12 deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0009852 MONDO:0016624 True hereditary intrinsic factor deficiency inherited deficiency anemia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009852 MONDO:0019220 True hereditary intrinsic factor deficiency inborn disorder of cobalamin metabolism and transport UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009853 MONDO:0016624 True Imerslund-Grasbeck syndrome inherited deficiency anemia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009853 MONDO:0019220 True Imerslund-Grasbeck syndrome inborn disorder of cobalamin metabolism and transport UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009855 MONDO:0019233 True d-bifunctional protein deficiency disorder of peroxisomal beta oxidation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009856 MONDO:0002254 True Peters plus syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0009856 MONDO:0015159 True Peters plus syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009856 MONDO:0015327 True Peters plus syndrome developmental anomaly of metabolic origin UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009856 MONDO:0017747 True Peters plus syndrome disorder of fucoglycosan synthesis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009857 MONDO:0005518 True persistent Mullerian duct syndrome pseudohermaphroditism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0009858 MONDO:0015159 True Pfeiffer-Palm-Teller syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009859 MONDO:0015161 True PHAVER syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009861 MONDO:0017306 True phenylketonuria disorder of phenylalanine metabolism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009862 MONDO:0016543 True dihydropteridine reductase deficiency hyperphenylalaninemia due to tetrahydrobiopterin deficiency UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009863 MONDO:0016543 True BH4-deficient hyperphenylalaninemia A hyperphenylalaninemia due to tetrahydrobiopterin deficiency UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009865 MONDO:0002412 True glycogen storage disease due to phosphoglycerate mutase deficiency disorder of glycogen metabolism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0009867 MONDO:0002412 True lethal congenital glycogen storage disease of heart disorder of glycogen metabolism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0009868 MONDO:0002412 True glycogen storage disease IXb disorder of glycogen metabolism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0009870 MONDO:0019278 True pili torti hair anomaly UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009872 MONDO:0006025 True Bjornstad syndrome autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0009873 MONDO:0019287 True pilodental dysplasia-refractive errors syndrome ectodermal dysplasia syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING -MONDO:0009874 MONDO:0019280 True Rabson-Mendenhall syndrome hypertrichosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009875 MONDO:0018852 True achromatopsia 3 achromatopsia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0009876 MONDO:0000050 True isolated growth hormone deficiency type IA isolated congenital growth hormone deficiency UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0009877 MONDO:0006025 True Laron syndrome autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0009877 MONDO:0015892 True Laron syndrome growth hormone insensitivity syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009879 MONDO:0000050 True short stature due to growth hormone qualitative anomaly isolated congenital growth hormone deficiency UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0009838 MONDO:0002254 True Parana hard-skin syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009838 MONDO:0005093 True Parana hard-skin syndrome skin disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009856 MONDO:0002254 True Peters plus syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0009865 MONDO:0002412 True glycogen storage disease due to phosphoglycerate mutase deficiency disorder of glycogen metabolism UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0009874 MONDO:0002254 True Rabson-Mendenhall syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009876 MONDO:0000050 True isolated growth hormone deficiency type IA isolated congenital growth hormone deficiency UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS MONDO:0009880 MONDO:0013099 True short stature-pituitary and cerebellar defects-small sella turcica syndrome combined pituitary hormone deficiencies, genetic form UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0009880 MONDO:0018762 True short stature-pituitary and cerebellar defects-small sella turcica syndrome non-acquired combined pituitary hormone deficiency UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009883 MONDO:0002243 True alpha-2-plasmin inhibitor deficiency hemorrhagic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0009883 MONDO:0021181 True alpha-2-plasmin inhibitor deficiency inherited blood coagulation disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009885 MONDO:0000009 True Scott syndrome inherited bleeding disorder, platelet-type UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0009885 MONDO:0021181 True Scott syndrome inherited blood coagulation disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009887 MONDO:0002429 True desquamative interstitial pneumonia idiopathic interstitial pneumonia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0009889 MONDO:0006025 True autosomal recessive polycystic kidney disease autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0009889 MONDO:0020642 True autosomal recessive polycystic kidney disease polycystic kidney disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0009891 MONDO:0005571 True acquired polycythemia vera polycythemia UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0009887 MONDO:0002429 True desquamative interstitial pneumonia idiopathic interstitial pneumonia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0009889 MONDO:0020642 True autosomal recessive polycystic kidney disease polycystic kidney disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0009891 MONDO:0005571 True acquired polycythemia vera polycythemia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0009891 MONDO:0020703 True acquired polycythemia vera erythroid neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009892 MONDO:0001115 True Chuvash polycythemia familial polycythemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0009892 MONDO:0016540 True Chuvash polycythemia congenital secondary polycythemia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009894 MONDO:0018770 True short-rib thoracic dysplasia 6 with or without polydactyly Jeune syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0009897 MONDO:0009292 True adult polyglucosan body disease glycogen storage disease due to glycogen branching enzyme deficiency UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING -MONDO:0009897 MONDO:0020127 True adult polyglucosan body disease hereditary peripheral neuropathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009900 MONDO:0015161 True polysyndactyly-cardiac malformation syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009901 MONDO:0017435 True Bartsocas-Papas syndrome 1 popliteal pterygium syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009901 MONDO:0019287 True Bartsocas-Papas syndrome 1 ectodermal dysplasia syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING -MONDO:0009901 MONDO:0043009 True Bartsocas-Papas syndrome 1 hereditary lethal multiple congenital anomalies/dysmorphic syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009902 MONDO:0019142 True cutaneous porphyria inherited porphyria UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0009903 MONDO:0002254 True postaxial acrofacial dysostosis syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0009903 MONDO:0015161 True postaxial acrofacial dysostosis multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009903 MONDO:0018237 True postaxial acrofacial dysostosis acrofacial dysostosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0009904 MONDO:0006510 True Gitelman syndrome renal tubular transport disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0009904 MONDO:0015962 True Gitelman syndrome inherited renal tubular disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009905 MONDO:0015159 True urban-Rogers-Meyer syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009908 MONDO:0016543 True pterin-4 alpha-carbinolamine dehydratase 1 deficiency hyperphenylalaninemia due to tetrahydrobiopterin deficiency UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009910 MONDO:0002254 True Wiedemann-Rautenstrauch syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0009910 MONDO:0015159 True Wiedemann-Rautenstrauch syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009910 MONDO:0020087 True Wiedemann-Rautenstrauch syndrome hereditary lipodystrophy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009892 MONDO:0001115 True Chuvash polycythemia familial polycythemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0009894 MONDO:0018770 True short-rib thoracic dysplasia 6 with or without polydactyly Jeune syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0009902 MONDO:0019142 True cutaneous porphyria inherited porphyria UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0009904 MONDO:0002254 True Gitelman syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0009910 MONDO:0020732 True Wiedemann-Rautenstrauch syndrome progeria UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0009914 MONDO:0018230 True pseudodiastrophic dysplasia skeletal dysplasia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009914 MONDO:0019755 True pseudodiastrophic dysplasia developmental defect during embryogenesis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009915 MONDO:0017576 True 46,XX disorder of sex development-skeletal anomalies syndrome 46,XX disorder of sex development UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009916 MONDO:0003847 True 46,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0009916 MONDO:0020040 True 46,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency 46,XY disorder of sex development UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009917 MONDO:0019161 True autosomal recessive pseudohypoaldosteronism type 1 pseudohypoaldosteronism type 1 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009919 MONDO:0019233 True peroxisomal acyl-CoA oxidase deficiency disorder of peroxisomal beta oxidation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009921 MONDO:0015159 True holoprosencephaly-postaxial polydactyly syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009923 MONDO:0020040 True 46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency 46,XY disorder of sex development UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009924 MONDO:0017323 True vitamin D-dependent rickets, type 1 hypocalcemic rickets UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009925 MONDO:0006025 True autosomal recessive inherited pseudoxanthoma elasticum autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0009926 MONDO:0015161 True autosomal recessive multiple pterygium syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009926 MONDO:0017415 True autosomal recessive multiple pterygium syndrome multiple pterygium syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009927 MONDO:0017398 True 3MC syndrome 2 3MC syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0009928 MONDO:0005275 True pulmonary alveolar microlithiasis lung disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0009921 MONDO:0002254 True holoprosencephaly-postaxial polydactyly syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009923 MONDO:0002525 True 46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency inherited lipid metabolism disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009926 MONDO:0002254 True autosomal recessive multiple pterygium syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009927 MONDO:0017398 True 3MC syndrome 2 3MC syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS MONDO:0009929 MONDO:0012580 True neonatal acute respiratory distress due to SP-B deficiency hereditary pulmonary alveolar proteinosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0009931 MONDO:0020291 True pulmonary atresia-intact ventricular septum syndrome hypoplastic right heart syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009934 MONDO:0017015 True alveolar capillary dysplasia with misalignment of pulmonary veins primary interstitial lung disease specific to childhood UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009937 MONDO:0005385 True pulmonary venoocclusive disease vascular disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0009940 MONDO:0002561 True pycnodysostosis lysosomal storage disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0009940 MONDO:0005516 True pycnodysostosis osteochondrodysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0009940 MONDO:0017198 True pycnodysostosis osteopetrosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0009942 MONDO:0018230 True pyknoachondrogenesis skeletal dysplasia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009943 MONDO:0005516 True Pyle disease osteochondrodysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0009943 MONDO:0018230 True Pyle disease skeletal dysplasia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009945 MONDO:0019237 True pyridoxine-dependent epilepsy inborn disorder of pyridoxine metabolism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009946 MONDO:0019238 True hemolytic anemia due to pyrimidine 5' nucleotidase deficiency inborn disorder of pyrimidine metabolism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009947 MONDO:0017909 True glutathione synthetase deficiency with 5-oxoprolinuria inherited glutathione synthetase deficiency UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0009949 MONDO:0019225 True pyruvate carboxylase deficiency disease disorder of gluconeogenesis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009950 MONDO:0006506 True pyruvate kinase deficiency of red cells congenital nonspherocytic hemolytic anemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0009952 MONDO:0015159 True radioulnar synostosis-developmental delay-hypotonia syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009952 MONDO:0019054 True radioulnar synostosis-developmental delay-hypotonia syndrome congenital limb malformation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009953 MONDO:0005501 True leukocyte adhesion deficiency type II congenital disorder of glycosylation type II UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0009953 MONDO:0017570 True leukocyte adhesion deficiency type II leukocyte adhesion deficiency UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0009953 MONDO:0017749 True leukocyte adhesion deficiency type II disorder of multiple glycosylation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009955 MONDO:0006025 True rapadilino syndrome autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0009955 MONDO:0015161 True rapadilino syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009955 MONDO:0018234 True rapadilino syndrome dysostosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0009955 MONDO:0019054 True rapadilino syndrome congenital limb malformation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009960 MONDO:0005265 True inflammatory bowel disease 1 inflammatory bowel disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0009933 MONDO:0005087 True congenital pulmonary lymphangiectasia respiratory system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009933 MONDO:0006840 True congenital pulmonary lymphangiectasia lymphangiectasis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009937 MONDO:0005385 True pulmonary venoocclusive disease vascular disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0009953 MONDO:0005501 True leukocyte adhesion deficiency type II congenital disorder of glycosylation type II UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0009953 MONDO:0017570 True leukocyte adhesion deficiency type II leukocyte adhesion deficiency UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0009960 MONDO:0005265 True inflammatory bowel disease 1 inflammatory bowel disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS MONDO:0009962 MONDO:0017842 True Senior-Loken syndrome 1 Senior-Loken syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0009963 MONDO:0015159 True Ulbright-Hodes syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009964 MONDO:0018770 True short-rib thoracic dysplasia 9 with or without polydactyly Jeune syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0009965 MONDO:0002254 True Perlman syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0009965 MONDO:0019716 True Perlman syndrome overgrowth syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009966 MONDO:0018921 True NPHP3-related Meckel-like syndrome Meckel syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0009966 MONDO:0020022 True NPHP3-related Meckel-like syndrome central nervous system malformation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009970 MONDO:0017609 True renal tubular dysgenesis of genetic origin renal tubular dysgenesis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009973 MONDO:0017855 True reticular dysgenesis T-B- severe combined immunodeficiency UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009973 MONDO:0031520 True reticular dysgenesis familial severe combined immunodeficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0009964 MONDO:0018770 True short-rib thoracic dysplasia 9 with or without polydactyly Jeune syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0009965 MONDO:0002254 True Perlman syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0009966 MONDO:0018921 True NPHP3-related Meckel-like syndrome Meckel syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS MONDO:0009974 MONDO:0015541 True familial hemophagocytic lymphohistiocytosis type 1 hereditary hemophagocytic lymphohistiocytosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0009975 MONDO:0000612 True reticulum cell sarcoma lymphatic system cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0009975 MONDO:0020082 True reticulum cell sarcoma dendritic cell tumor UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009978 MONDO:0019118 True retinal degeneration-nanophthalmos-glaucoma syndrome inherited retinal dystrophy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009979 MONDO:0018973 True reticular dystrophy of the retinal pigment epithelium patterned dystrophy of the retinal pigment epithelium UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009984 MONDO:0019200 True late-adult onset retinitis pigmentosa retinitis pigmentosa UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED -MONDO:0009987 MONDO:0019200 True autosomal recessive pericentral pigmentary retinopathy retinitis pigmentosa UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED -MONDO:0009990 MONDO:0015780 True Revesz syndrome dyskeratosis congenita UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0009990 MONDO:0019118 True Revesz syndrome inherited retinal dystrophy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0009993 MONDO:0005212 True embryonal rhabdomyosarcoma rhabdomyosarcoma UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0009994 MONDO:0005212 True alveolar rhabdomyosarcoma rhabdomyosarcoma UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0009996 MONDO:0018230 True rhizomelic syndrome, Urbach type skeletal dysplasia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009998 MONDO:0015161 True Richieri Costa-Pereira syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009999 MONDO:0006025 True autosomal recessive Robinow syndrome autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0009999 MONDO:0019978 True autosomal recessive Robinow syndrome Robinow syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0010001 MONDO:0019287 True ectodermal dysplasia-blindness syndrome ectodermal dysplasia syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING -MONDO:0010002 MONDO:0015951 True Rothmund-Thomson syndrome hereditary photodermatosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010004 MONDO:0000426 True EEC syndrome autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0010004 MONDO:0002254 True EEC syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0010004 MONDO:0018234 True EEC syndrome dysostosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0010005 MONDO:0017351 True saccharopinuria inborn disorder of lysine and hydroxylysine metabolism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010006 MONDO:0017720 True Sandhoff disease GM2 gangliosidosis SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0010006 MONDO:0020127 True Sandhoff disease hereditary peripheral neuropathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010006 MONDO:0020143 True Sandhoff disease cerebral lipidosis with dementia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0010007 MONDO:0015159 True microbrachycephaly-ptosis-cleft lip syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010008 MONDO:0019239 True sarcosinemia inborn disorder of serine family metabolism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010010 MONDO:0019287 True Schinzel-Giedion syndrome ectodermal dysplasia syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING -MONDO:0010011 MONDO:0017103 True schizencephaly encephaloclastic disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010012 MONDO:0017278 True autoimmune polyendocrinopathy type 2 autoimmune polyendocrinopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0010013 MONDO:0005516 True schneckenbecken dysplasia osteochondrodysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0010013 MONDO:0015286 True schneckenbecken dysplasia congenital disorder of glycosylation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0010014 MONDO:0018230 True craniometadiaphyseal dysplasia, wormian bone type skeletal dysplasia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010015 MONDO:0019503 True anterior segment dysgenesis 7 anterior segment dysgenesis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0010016 MONDO:0017838 True sclerosteosis 1 sclerosteosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0010017 MONDO:0015531 True sea-blue histiocyte syndrome non-Langerhans cell histiocytosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0010017 MONDO:0019255 True sea-blue histiocyte syndrome sphingolipidosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0010020 MONDO:0006536 True congenital generalized lipodystrophy type 2 congenital generalized lipodystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0009990 MONDO:0015780 True Revesz syndrome dyskeratosis congenita UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0009993 MONDO:0005212 True embryonal rhabdomyosarcoma rhabdomyosarcoma UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0009994 MONDO:0005212 True alveolar rhabdomyosarcoma rhabdomyosarcoma UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0009999 MONDO:0019978 True autosomal recessive Robinow syndrome Robinow syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0010002 MONDO:0015356 True Rothmund-Thomson syndrome hereditary neoplastic syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010004 MONDO:0002254 True EEC syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0010006 MONDO:0017720 True Sandhoff disease GM2 gangliosidosis SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0010011 MONDO:0002320 True schizencephaly congenital nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010012 MONDO:0017278 True autoimmune polyendocrinopathy type 2 autoimmune polyendocrinopathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0010015 MONDO:0019503 True anterior segment dysgenesis 7 anterior segment dysgenesis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0010016 MONDO:0017838 True sclerosteosis 1 sclerosteosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0010020 MONDO:0006536 True congenital generalized lipodystrophy type 2 congenital generalized lipodystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS MONDO:0010023 MONDO:0021094 True combined immunodeficiency due to ZAP70 deficiency immunodeficiency disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0010024 MONDO:0018770 True Beemer-Langer syndrome Jeune syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0010026 MONDO:0002254 True SHORT syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0010026 MONDO:0020087 True SHORT syndrome hereditary lipodystrophy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010027 MONDO:0019366 True free sialic acid storage disease, infantile form free sialic acid storage disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010027 MONDO:0800088 True free sialic acid storage disease, infantile form lysosomal storage disease with skeletal involvement UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010028 MONDO:0017736 True sialuria disorder of sialic acid metabolism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010029 MONDO:0018677 True situs inversus visceral heterotaxy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0010030 MONDO:0000586 True Sjogren syndrome autoimmune disorder of exocrine system UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0010031 MONDO:0006025 True Sjogren-Larsson syndrome autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0010031 MONDO:0018117 True Sjogren-Larsson syndrome disorder of phospholipids, sphingolipids and fatty acids biosynthesis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010033 MONDO:0019347 True generalized peeling skin syndrome peeling skin syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010035 MONDO:0015159 True Smith-Lemli-Opitz syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010038 MONDO:0015892 True growth delay due to insulin-like growth factor I resistance growth hormone insensitivity syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010039 MONDO:0015159 True congenital heart defect-round face-developmental delay syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010041 MONDO:0015244 True Charlevoix-Saguenay spastic ataxia autosomal recessive cerebellar ataxia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED -MONDO:0010041 MONDO:0017847 True Charlevoix-Saguenay spastic ataxia autosomal recessive spastic ataxia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010043 MONDO:0015087 True hereditary spastic paraplegia 17 autosomal dominant complex spastic paraplegia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010043 MONDO:0015362 True hereditary spastic paraplegia 17 neuronopathy, distal hereditary motor, autosomal dominant UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS -MONDO:0010044 MONDO:0015150 True hereditary spastic paraplegia 15 complex hereditary spastic paraplegia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010046 MONDO:0015150 True hereditary spastic paraplegia 23 complex hereditary spastic paraplegia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010047 MONDO:0019064 True hereditary spastic paraplegia 5A hereditary spastic paraplegia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0010049 MONDO:0015150 True spastic paraplegia-glaucoma-intellectual disability syndrome complex hereditary spastic paraplegia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010052 MONDO:0004983 True spermatogenic failure 4 spermatogenic failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0010053 MONDO:0019350 True hereditary spherocytosis type 3 hereditary spherocytosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0010056 MONDO:0019079 True spinal muscular atrophy, type IV proximal spinal muscular atrophy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010060 MONDO:0020046 True mitochondrial DNA depletion syndrome 7 (hepatocerebral type) autosomal recessive degenerative and progressive cerebellar ataxia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010060 MONDO:0100512 True mitochondrial DNA depletion syndrome 7 (hepatocerebral type) mitochondrial DNA depletion syndrome, hepatocerebral form UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010062 MONDO:0100309 True spinocerebellar ataxia-dysmorphism syndrome hereditary ataxia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010064 MONDO:0017847 True spastic ataxia-corneal dystrophy syndrome autosomal recessive spastic ataxia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010066 MONDO:0003778 True familial isolated congenital asplenia inborn error of immunity UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010068 MONDO:0100510 True spondyloepimetaphyseal dysplasia, sponastrime type spondyloepimetaphyseal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0010072 MONDO:0006025 True spondyloepiphyseal dysplasia tarda, autosomal recessive autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0010072 MONDO:0019667 True spondyloepiphyseal dysplasia tarda, autosomal recessive spondyloepiphyseal dysplasia tarda UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0010073 MONDO:0019667 True spondyloepiphyseal dysplasia tarda, Kohn type spondyloepiphyseal dysplasia tarda UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0010075 MONDO:0019675 True spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures spondyloepimetaphyseal dysplasia with joint laxity UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0010077 MONDO:0100510 True spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome spondyloepimetaphyseal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0010078 MONDO:0022800 True spondyloperipheral dysplasia type 2 collagenopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010079 MONDO:0017686 True Canavan disease inborn aminoacylase deficiency UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010079 MONDO:0019046 True Canavan disease leukodystrophy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED +MONDO:0010030 MONDO:0002254 True Sjogren syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0010047 MONDO:0019064 True hereditary spastic paraplegia 5A hereditary spastic paraplegia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0010052 MONDO:0004983 True spermatogenic failure 4 spermatogenic failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0010075 MONDO:0019675 True spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures spondyloepimetaphyseal dysplasia with joint laxity UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0010079 MONDO:0019046 True Canavan disease leukodystrophy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS MONDO:0010080 MONDO:0003122 True familial infantile bilateral striatal necrosis striatonigral degeneration UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0010080 MONDO:0015518 True familial infantile bilateral striatal necrosis infantile bilateral striatal necrosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010083 MONDO:0000698 True succinic semialdehyde dehydrogenase deficiency gamma-amino butyric acid metabolism disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0010087 MONDO:0019054 True Sugarman brachydactyly congenital limb malformation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010088 MONDO:0015327 True mucosulfatidosis developmental anomaly of metabolic origin UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010088 MONDO:0019255 True mucosulfatidosis sphingolipidosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0010088 MONDO:0800088 True mucosulfatidosis lysosomal storage disease with skeletal involvement UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010089 MONDO:0019358 True isolated sulfite oxidase deficiency encephalopathy due to sulfite oxidase deficiency UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010090 MONDO:0015338 True Summitt syndrome syndromic craniosynostosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010091 MONDO:0015526 True Cold-induced sweating syndrome 1 cold-induced sweating syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0010092 MONDO:0015159 True Filippi syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010094 MONDO:0005497 True spondylocarpotarsal synostosis syndrome bone development disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0010094 MONDO:0019690 True spondylocarpotarsal synostosis syndrome filamin-related bone disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010094 MONDO:0019694 True spondylocarpotarsal synostosis syndrome spondylodysplastic dysplasia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010095 MONDO:0100309 True ataxia-tapetoretinal degeneration syndrome hereditary ataxia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010099 MONDO:0017720 True Tay-Sachs disease AB variant GM2 gangliosidosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0010100 MONDO:0017720 True Tay-Sachs disease GM2 gangliosidosis SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0010100 MONDO:0020127 True Tay-Sachs disease hereditary peripheral neuropathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010100 MONDO:0020143 True Tay-Sachs disease cerebral lipidosis with dementia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0010101 MONDO:0019287 True Teebi-Shaltout syndrome ectodermal dysplasia syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING -MONDO:0010108 MONDO:0018202 True testicular germ cell tumor gonadal germ cell tumor UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010091 MONDO:0015526 True Cold-induced sweating syndrome 1 cold-induced sweating syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0010100 MONDO:0017720 True Tay-Sachs disease GM2 gangliosidosis SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0010108 MONDO:0021348 True testicular germ cell tumor neoplasm of testis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010110 MONDO:0015161 True tetraamelia-multiple malformations syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010110 MONDO:0018234 True tetraamelia-multiple malformations syndrome dysostosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0010110 MONDO:0019054 True tetraamelia-multiple malformations syndrome congenital limb malformation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010111 MONDO:0019287 True odontotrichomelic syndrome ectodermal dysplasia syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING -MONDO:0010115 MONDO:0015929 True thoracic dysplasia-hydrocephalus syndrome thoracic malformation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010116 MONDO:0015929 True thoracomelic dysplasia thoracic malformation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010116 MONDO:0019691 True thoracomelic dysplasia short rib dysplasia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010117 MONDO:0007477 True 3M syndrome 1 3-M syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0010120 MONDO:0100241 True thrombocytopenia 3 inherited thrombocytopenia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0010121 MONDO:0002254 True thrombocytopenia-absent radius syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0010121 MONDO:0018234 True thrombocytopenia-absent radius syndrome dysostosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0010121 MONDO:0018795 True thrombocytopenia-absent radius syndrome syndromic constitutional thrombocytopenia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010121 MONDO:0019054 True thrombocytopenia-absent radius syndrome congenital limb malformation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010122 MONDO:0018896 True congenital thrombotic thrombocytopenic purpura thrombotic thrombocytopenic purpura UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010122 MONDO:0021181 True congenital thrombotic thrombocytopenic purpura inherited blood coagulation disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010125 MONDO:0015159 True upper limb defect-eye and ear abnormalities syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010129 MONDO:0015161 True thymic-renal-anal-lung dysplasia multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010130 MONDO:0019238 True dihydropyrimidine dehydrogenase deficiency inborn disorder of pyrimidine metabolism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0010132 MONDO:0018612 True familial thyroid dyshormonogenesis congenital hypothyroidism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0010133 MONDO:0010132 True thyroid dyshormonogenesis 2A familial thyroid dyshormonogenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0010134 MONDO:0002254 True Pendred syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0010134 MONDO:0006025 True Pendred syndrome autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0010134 MONDO:0018612 True Pendred syndrome congenital hypothyroidism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0010135 MONDO:0010132 True thyroid dyshormonogenesis 3 familial thyroid dyshormonogenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0010136 MONDO:0010132 True thyroid dyshormonogenesis 4 familial thyroid dyshormonogenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0010137 MONDO:0010132 True thyroid dyshormonogenesis 5 familial thyroid dyshormonogenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0010121 MONDO:0002254 True thrombocytopenia-absent radius syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0010122 MONDO:0018896 True congenital thrombotic thrombocytopenic purpura thrombotic thrombocytopenic purpura UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010132 MONDO:0018612 True familial thyroid dyshormonogenesis congenital hypothyroidism UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0010134 MONDO:0018612 True Pendred syndrome congenital hypothyroidism UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0010139 MONDO:0000045 True isolated thyroid-stimulating hormone deficiency hypothyroidism, congenital, nongoitrous UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0010139 MONDO:0016410 True isolated thyroid-stimulating hormone deficiency central congenital hypothyroidism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010139 MONDO:0019824 True isolated thyroid-stimulating hormone deficiency non-acquired pituitary hormone deficiency UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010140 MONDO:0016410 True isolated thyrotropin-releasing hormone deficiency central congenital hypothyroidism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010140 MONDO:0016410 True isolated thyrotropin-releasing hormone deficiency central congenital hypothyroidism UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010142 MONDO:0000045 True hypothyroidism due to TSH receptor mutations hypothyroidism, congenital, nongoitrous UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0010144 MONDO:0016240 True tibial hemimelia hemimelia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010149 MONDO:0000424 True transcobalamin II deficiency inborn vitamin B12 deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0010149 MONDO:0016624 True transcobalamin II deficiency inherited deficiency anemia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010149 MONDO:0019220 True transcobalamin II deficiency inborn disorder of cobalamin metabolism and transport UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010150 MONDO:0002038 True head and neck squamous cell carcinoma head and neck carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0010150 MONDO:0005096 True head and neck squamous cell carcinoma squamous cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0010152 MONDO:0019287 True trichomegaly-retina pigmentary degeneration-dwarfism syndrome ectodermal dysplasia syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS -MONDO:0010153 MONDO:0019287 True trichoodontoonychial dysplasia ectodermal dysplasia syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING -MONDO:0010154 MONDO:0015161 True trigonocephaly-bifid nose-acral anomalies syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010155 MONDO:0015611 True Dorfman-Chanarin disease neutral lipid storage disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010156 MONDO:0015150 True Troyer syndrome complex hereditary spastic paraplegia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010159 MONDO:0015356 True mismatch repair cancer syndrome 1 hereditary neoplastic syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010148 MONDO:0005087 True Mounier-Kuhn syndrome respiratory system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010150 MONDO:0002038 True head and neck squamous cell carcinoma head and neck carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0010150 MONDO:0005096 True head and neck squamous cell carcinoma squamous cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0010159 MONDO:0015356 True mismatch repair cancer syndrome 1 hereditary neoplastic syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010159 MONDO:0031219 True mismatch repair cancer syndrome 1 mismatch repair cancer syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0010160 MONDO:0004741 True tyrosinemia type II tyrosinemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0010160 MONDO:0017672 True tyrosinemia type II focal palmoplantar keratoderma UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010161 MONDO:0004741 True tyrosinemia type I tyrosinemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0010162 MONDO:0004741 True tyrosinemia type III tyrosinemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0010164 MONDO:0018234 True phocomelia, Schinzel type dysostosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0010164 MONDO:0019054 True phocomelia, Schinzel type congenital limb malformation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010165 MONDO:0018234 True ulna hypoplasia-intellectual disability syndrome dysostosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010165 MONDO:0019054 True ulna hypoplasia-intellectual disability syndrome congenital limb malformation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010167 MONDO:0019228 True urocanic aciduria inborn disorder of histidine metabolism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0010168 MONDO:0019501 True Usher syndrome type 1 Usher syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0010169 MONDO:0016484 True Usher syndrome type 2A Usher syndrome type 2 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0010170 MONDO:0016485 True Usher syndrome type 3A Usher syndrome type 3 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0010171 MONDO:0010168 True Usher syndrome type 1C Usher syndrome type 1 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0010173 MONDO:0017771 True Mayer-Rokitansky-Kuster-Hauser syndrome type 1 Mayer-Rokitansky-Kuster-Hauser syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0010176 MONDO:0015375 True orofaciodigital syndrome type 6 orofaciodigital syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0010176 MONDO:0020022 True orofaciodigital syndrome type 6 central nervous system malformation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010178 MONDO:0018801 True congenital bilateral aplasia of vas deferens from CFTR mutation congenital bilateral absence of vas deferens UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0010179 MONDO:0020291 True isolated right ventricular hypoplasia hypoplastic right heart syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010180 MONDO:0017747 True autosomal recessive spondylocostal dysostosis disorder of fucoglycosan synthesis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010183 MONDO:0016826 True methylmalonic aciduria and homocystinuria type cblF methylmalonic aciduria and homocystinuria UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0010184 MONDO:0016826 True methylmalonic aciduria and homocystinuria type cblC methylmalonic aciduria and homocystinuria UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0010184 MONDO:0020127 True methylmalonic aciduria and homocystinuria type cblC hereditary peripheral neuropathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010185 MONDO:0016826 True methylmalonic aciduria and homocystinuria type cblD methylmalonic aciduria and homocystinuria UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0010187 MONDO:0015722 True vitamin K-dependent clotting factors, combined deficiency of, type 1 congenital vitamin K-dependent coagulation factors deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0010188 MONDO:0005528 True familial isolated deficiency of vitamin E inborn vitamin metabolic disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0010188 MONDO:0020044 True familial isolated deficiency of vitamin E autosomal recessive metabolic cerebellar ataxia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010188 MONDO:0020127 True familial isolated deficiency of vitamin E hereditary peripheral neuropathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010190 MONDO:0016759 True pontocerebellar hypoplasia type 2A pontocerebellar hypoplasia type 2 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0010191 MONDO:0019565 True von Willebrand disease 3 hereditary von Willebrand disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0010193 MONDO:0002254 True Weaver syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0010193 MONDO:0015159 True Weaver syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010193 MONDO:0018230 True Weaver syndrome skeletal dysplasia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010193 MONDO:0019716 True Weaver syndrome overgrowth syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010160 MONDO:0004741 True tyrosinemia type II tyrosinemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0010161 MONDO:0004741 True tyrosinemia type I tyrosinemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0010162 MONDO:0004741 True tyrosinemia type III tyrosinemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0010168 MONDO:0019501 True Usher syndrome type 1 Usher syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0010176 MONDO:0015375 True orofaciodigital syndrome type 6 orofaciodigital syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0010178 MONDO:0018801 True congenital bilateral aplasia of vas deferens from CFTR mutation congenital bilateral absence of vas deferens UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0010183 MONDO:0016826 True methylmalonic aciduria and homocystinuria type cblF methylmalonic aciduria and homocystinuria UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0010184 MONDO:0016826 True methylmalonic aciduria and homocystinuria type cblC methylmalonic aciduria and homocystinuria UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0010185 MONDO:0016826 True methylmalonic aciduria and homocystinuria type cblD methylmalonic aciduria and homocystinuria UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0010186 MONDO:0019642 True vitamin D-dependent rickets, type 2A vitamin D-dependent rickets, type 2 UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010187 MONDO:0015722 True vitamin K-dependent clotting factors, combined deficiency of, type 1 congenital vitamin K-dependent coagulation factors deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0010193 MONDO:0002254 True Weaver syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0010194 MONDO:0018096 True Weill-Marchesani syndrome 1 Weill-Marchesani syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0010196 MONDO:0002254 True Werner syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0010196 MONDO:0006025 True Werner syndrome autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0010196 MONDO:0015333 True Werner syndrome progeroid syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0010197 MONDO:0008675 True whistling face syndrome, recessive form Freeman-Sheldon syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED -MONDO:0010198 MONDO:0006873 True Wernicke-Korsakoff syndrome nutritional deficiency disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0010199 MONDO:0015161 True white forelock with malformations multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010200 MONDO:0004689 True Wilson disease inborn metal metabolism disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0010200 MONDO:0017762 True Wilson disease disorder of copper metabolism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010203 MONDO:0015159 True intellectual disability, Wolff type multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010206 MONDO:0003037 True hypotrichosis 8 hypotrichosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0010208 MONDO:0018163 True wrinkly skin syndrome autosomal recessive cutis laxa type 2A UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS -MONDO:0010209 MONDO:0018106 True xanthinuria type I hereditary xanthinuria UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0010210 MONDO:0019600 True xeroderma pigmentosum group A xeroderma pigmentosum UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0010211 MONDO:0019600 True xeroderma pigmentosum group C xeroderma pigmentosum UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0010212 MONDO:0019600 True xeroderma pigmentosum group D xeroderma pigmentosum UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0010213 MONDO:0019600 True xeroderma pigmentosum group E xeroderma pigmentosum UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0010214 MONDO:0019600 True xeroderma pigmentosum variant type xeroderma pigmentosum UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0010215 MONDO:0019600 True xeroderma pigmentosum group F xeroderma pigmentosum UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0010216 MONDO:0019600 True xeroderma pigmentosum group G xeroderma pigmentosum UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0010217 MONDO:0002254 True de Sanctis-Cacchione syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0010217 MONDO:0003847 True de Sanctis-Cacchione syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0010218 MONDO:0100249 True 46,XX sex reversal 2 46,XX testicular disorder of sex development UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0010221 MONDO:0015159 True CHIME syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010221 MONDO:0015327 True CHIME syndrome developmental anomaly of metabolic origin UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010221 MONDO:0017748 True CHIME syndrome inborn disorder of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010221 MONDO:0019287 True CHIME syndrome ectodermal dysplasia syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS -MONDO:0010224 MONDO:0002254 True corpus callosum agenesis-abnormal genitalia syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0010224 MONDO:0003847 True corpus callosum agenesis-abnormal genitalia syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0010225 MONDO:0015612 True Dent disease type 1 Dent disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0010226 MONDO:0010765 True 46,XY sex reversal 2 46,XY complete gonadal dysgenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0010227 MONDO:0019200 True retinitis pigmentosa 3 retinitis pigmentosa UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0010228 MONDO:0019586 True hearing loss, X-linked 3 X-linked nonsyndromic hearing loss UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0010196 MONDO:0002254 True Werner syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0010198 MONDO:0002254 True Wernicke-Korsakoff syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0010206 MONDO:0003037 True hypotrichosis 8 hypotrichosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0010209 MONDO:0018106 True xanthinuria type I hereditary xanthinuria UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0010210 MONDO:0019600 True xeroderma pigmentosum group A xeroderma pigmentosum UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0010211 MONDO:0019600 True xeroderma pigmentosum group C xeroderma pigmentosum UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0010212 MONDO:0019600 True xeroderma pigmentosum group D xeroderma pigmentosum UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0010213 MONDO:0019600 True xeroderma pigmentosum group E xeroderma pigmentosum UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0010214 MONDO:0019600 True xeroderma pigmentosum variant type xeroderma pigmentosum UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0010215 MONDO:0019600 True xeroderma pigmentosum group F xeroderma pigmentosum UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0010216 MONDO:0019600 True xeroderma pigmentosum group G xeroderma pigmentosum UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0010217 MONDO:0002254 True de Sanctis-Cacchione syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0010225 MONDO:0015612 True Dent disease type 1 Dent disease UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0010226 MONDO:0010765 True 46,XY sex reversal 2 46,XY complete gonadal dysgenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0010227 MONDO:0019200 True retinitis pigmentosa 3 retinitis pigmentosa UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS MONDO:0010229 MONDO:0000005 True alopecia, congenital alopecia, isolated UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0010230 MONDO:0019181 True intellectual disability, X-linked 23 non-syndromic X-linked intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0010231 MONDO:0019181 True intellectual disability, X-linked 20 non-syndromic X-linked intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0010232 MONDO:0003847 True intestinal pseudoobstruction, neuronal, chronic idiopathic, X-linked hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0010230 MONDO:0019181 True intellectual disability, X-linked 23 non-syndromic X-linked intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0010231 MONDO:0019181 True intellectual disability, X-linked 20 non-syndromic X-linked intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS MONDO:0010233 MONDO:0020341 True heterotopia, periventricular, X-linked dominant periventricular nodular heterotopia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0010235 MONDO:0020119 True X-linked intellectual disability-psychosis-macroorchidism syndrome X-linked syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0010236 MONDO:0019181 True intellectual disability, X-linked 14 non-syndromic X-linked intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0010237 MONDO:0015159 True X-linked intellectual disability-plagiocephaly syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010237 MONDO:0015338 True X-linked intellectual disability-plagiocephaly syndrome syndromic craniosynostosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010238 MONDO:0019586 True hearing loss, X-linked 4 X-linked nonsyndromic hearing loss UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0010239 MONDO:0015146 True lissencephaly type 1 due to doublecortin gene mutation classic lissencephaly UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010242 MONDO:0008824 True fetal akinesia syndrome, X-linked fetal akinesia deformation sequence UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED -MONDO:0010243 MONDO:0003778 True X-linked immunoneurologic disorder inborn error of immunity UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010246 MONDO:0016160 True developmental and epileptic encephalopathy, 9 X-linked intellectual disability-epilepsy syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010246 MONDO:0100062 True developmental and epileptic encephalopathy, 9 developmental and epileptic encephalopathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0010247 MONDO:0018544 True X-linked cerebral adrenoleukodystrophy adrenoleukodystrophy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010250 MONDO:0020119 True intellectual disability, X-linked 49 X-linked syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0010251 MONDO:0019181 True intellectual disability, X-linked 50 non-syndromic X-linked intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0010235 MONDO:0020119 True X-linked intellectual disability-psychosis-macroorchidism syndrome X-linked syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0010236 MONDO:0019181 True intellectual disability, X-linked 14 non-syndromic X-linked intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0010246 MONDO:0100062 True developmental and epileptic encephalopathy, 9 developmental and epileptic encephalopathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0010250 MONDO:0020119 True intellectual disability, X-linked 49 X-linked syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0010251 MONDO:0019181 True intellectual disability, X-linked 50 non-syndromic X-linked intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS MONDO:0010253 MONDO:0100246 True migraine, familial typical, susceptibility to, 2 migraine with or without aura, susceptibility to UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0010256 MONDO:0019181 True intellectual disability, X-linked 21 non-syndromic X-linked intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0010258 MONDO:0020119 True MEHMO syndrome X-linked syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0010259 MONDO:0019200 True retinitis pigmentosa 24 retinitis pigmentosa UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0010261 MONDO:0016073 True microphthalmia, syndromic 2 syndromic microphthalmia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0010263 MONDO:0002254 True Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0010264 MONDO:0000425 True X-linked adrenal hypoplasia congenita X-linked disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0010264 MONDO:0015129 True X-linked adrenal hypoplasia congenita chronic primary adrenal insufficiency UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS -MONDO:0010264 MONDO:0015770 True X-linked adrenal hypoplasia congenita congenital hypogonadotropic hypogonadism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010265 MONDO:0003847 True Simpson-Golabi-Behmel syndrome type 2 hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0010266 MONDO:0019181 True intellectual disability, X-linked 58 non-syndromic X-linked intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0010268 MONDO:0000425 True X-linked lissencephaly with abnormal genitalia X-linked disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0010268 MONDO:0018838 True X-linked lissencephaly with abnormal genitalia lissencephaly spectrum disorders UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0010269 MONDO:0004348 True Coats disease retinal telangiectasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0010270 MONDO:0015159 True syndromic X-linked intellectual disability 7 multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010270 MONDO:0020119 True syndromic X-linked intellectual disability 7 X-linked syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0010271 MONDO:0017007 True X-linked myotubular myopathy-abnormal genitalia syndrome partial deletion of the long arm of chromosome X UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010271 MONDO:0020040 True X-linked myotubular myopathy-abnormal genitalia syndrome 46,XY disorder of sex development UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010277 MONDO:0015159 True syndromic X-linked intellectual disability Shashi type multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010277 MONDO:0020119 True syndromic X-linked intellectual disability Shashi type X-linked syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0010278 MONDO:0003847 True Christianson syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0010279 MONDO:0019690 True terminal osseous dysplasia-pigmentary defects syndrome filamin-related bone disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010279 MONDO:0019695 True terminal osseous dysplasia-pigmentary defects syndrome acromelic dysplasia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010281 MONDO:0002412 True Danon disease disorder of glycogen metabolism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS -MONDO:0010281 MONDO:0017738 True Danon disease lysosomal glycogen storage disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010283 MONDO:0015159 True syndromic X-linked intellectual disability Lubs type multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010283 MONDO:0017010 True syndromic X-linked intellectual disability Lubs type partial duplication of the long arm of chromosome X UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010283 MONDO:0020119 True syndromic X-linked intellectual disability Lubs type X-linked syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0010285 MONDO:0015159 True syndromic X-linked intellectual disability Abidi type multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010285 MONDO:0020119 True syndromic X-linked intellectual disability Abidi type X-linked syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0010286 MONDO:0015159 True syndromic X-linked intellectual disability Siderius type multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010286 MONDO:0020119 True syndromic X-linked intellectual disability Siderius type X-linked syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0010287 MONDO:0019064 True hereditary spastic paraplegia 16 hereditary spastic paraplegia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0010289 MONDO:0019181 True intellectual disability, X-linked 72 non-syndromic X-linked intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0010256 MONDO:0019181 True intellectual disability, X-linked 21 non-syndromic X-linked intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0010258 MONDO:0020119 True MEHMO syndrome X-linked syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0010259 MONDO:0019200 True retinitis pigmentosa 24 retinitis pigmentosa UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0010261 MONDO:0016073 True microphthalmia, syndromic 2 syndromic microphthalmia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0010264 MONDO:0016241 True X-linked adrenal hypoplasia congenita alternating hemiplegia of childhood UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS +MONDO:0010266 MONDO:0019181 True intellectual disability, X-linked 58 non-syndromic X-linked intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0010268 MONDO:0018838 True X-linked lissencephaly with abnormal genitalia lissencephaly spectrum disorders UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0010270 MONDO:0020119 True syndromic X-linked intellectual disability 7 X-linked syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0010277 MONDO:0020119 True syndromic X-linked intellectual disability Shashi type X-linked syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0010281 MONDO:0002412 True Danon disease disorder of glycogen metabolism UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS +MONDO:0010283 MONDO:0020119 True syndromic X-linked intellectual disability Lubs type X-linked syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0010285 MONDO:0020119 True syndromic X-linked intellectual disability Abidi type X-linked syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0010286 MONDO:0020119 True syndromic X-linked intellectual disability Siderius type X-linked syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0010287 MONDO:0019064 True hereditary spastic paraplegia 16 hereditary spastic paraplegia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0010289 MONDO:0019181 True intellectual disability, X-linked 72 non-syndromic X-linked intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS MONDO:0010290 MONDO:0000334 True goiter, multinodular 2 multinodular goiter UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0010293 MONDO:0003778 True ectodermal dysplasia and immune deficiency inborn error of immunity UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0010294 MONDO:0000425 True X-linked severe congenital neutropenia X-linked disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0010294 MONDO:0018542 True X-linked severe congenital neutropenia severe congenital neutropenia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0010295 MONDO:0017198 True anhidrotic ectodermal dysplasia-immunodeficiency-osteopetrosis-lymphedema syndrome osteopetrosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010295 MONDO:0019287 True anhidrotic ectodermal dysplasia-immunodeficiency-osteopetrosis-lymphedema syndrome ectodermal dysplasia syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010294 MONDO:0018542 True X-linked severe congenital neutropenia severe congenital neutropenia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS MONDO:0010296 MONDO:0015977 True immunodeficiency 61 agammaglobulinemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS MONDO:0010297 MONDO:0002010 True FG syndrome 2 FG syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0010298 MONDO:0016088 True Lesch-Nyhan syndrome hypoxanthine-guanine phosphoribosyltransferase deficiency UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010299 MONDO:0016088 True hypoxanthine guanine phosphoribosyltransferase partial deficiency hypoxanthine-guanine phosphoribosyltransferase deficiency UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010300 MONDO:0019181 True intellectual disability, X-linked 53 non-syndromic X-linked intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0010305 MONDO:0000456 True creatine transporter deficiency cerebral creatine deficiency syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0010305 MONDO:0015159 True creatine transporter deficiency multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010306 MONDO:0015159 True X-linked intellectual disability, Cabezas type multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010306 MONDO:0020119 True X-linked intellectual disability, Cabezas type X-linked syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0010307 MONDO:0019181 True intellectual disability, X-linked 73 non-syndromic X-linked intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0010309 MONDO:0019181 True intellectual disability, X-linked 42 non-syndromic X-linked intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0010310 MONDO:0017198 True osteopathia striata with cranial sclerosis osteopetrosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0010311 MONDO:0020121 True Becker muscular dystrophy muscular dystrophy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0010313 MONDO:0019181 True intellectual disability, X-linked 63 non-syndromic X-linked intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0010315 MONDO:0031520 True T-B+ severe combined immunodeficiency due to gamma chain deficiency familial severe combined immunodeficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0010315 MONDO:0044200 True T-B+ severe combined immunodeficiency due to gamma chain deficiency T-B+ severe combined immunodeficiency UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010298 MONDO:0002254 True Lesch-Nyhan syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0010300 MONDO:0019181 True intellectual disability, X-linked 53 non-syndromic X-linked intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0010305 MONDO:0000456 True creatine transporter deficiency cerebral creatine deficiency syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0010306 MONDO:0020119 True X-linked intellectual disability, Cabezas type X-linked syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0010307 MONDO:0019181 True intellectual disability, X-linked 73 non-syndromic X-linked intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0010309 MONDO:0019181 True intellectual disability, X-linked 42 non-syndromic X-linked intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0010311 MONDO:0020121 True Becker muscular dystrophy muscular dystrophy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0010313 MONDO:0019181 True intellectual disability, X-linked 63 non-syndromic X-linked intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS MONDO:0010316 MONDO:0002010 True FG syndrome 3 FG syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0010317 MONDO:0019181 True intellectual disability, X-linked, with or without seizures, arx-related non-syndromic X-linked intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0010317 MONDO:0019181 True intellectual disability, X-linked, with or without seizures, arx-related non-syndromic X-linked intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS MONDO:0010318 MONDO:0002010 True FG syndrome 4 FG syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0010319 MONDO:0016160 True syndromic X-linked intellectual disability Hedera type X-linked intellectual disability-epilepsy syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010320 MONDO:0019200 True retinitis pigmentosa 23 retinitis pigmentosa UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0010320 MONDO:0019200 True retinitis pigmentosa 23 retinitis pigmentosa UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS MONDO:0010321 MONDO:0020836 True autism, susceptibility to, X-linked 1 autism, susceptiblity to UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0010322 MONDO:0019181 True intellectual disability, X-linked 2 non-syndromic X-linked intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0010324 MONDO:0019181 True intellectual disability, X-linked 81 non-syndromic X-linked intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0010325 MONDO:0020119 True X-linked intellectual disability, Stocco dos Santos type X-linked syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0010326 MONDO:0019181 True intellectual disability, X-linked 46 non-syndromic X-linked intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0010327 MONDO:0003847 True HSD10 mitochondrial disease hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0010328 MONDO:0002254 True alpha-thalassemia-myelodysplastic syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0010329 MONDO:0019181 True intellectual disability, X-linked 77 non-syndromic X-linked intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0010332 MONDO:0015159 True X-linked intellectual disability-cubitus valgus-dysmorphism syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010333 MONDO:0020119 True corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome X-linked syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0010334 MONDO:0044807 True severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome inherited dystonia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING -MONDO:0010336 MONDO:0015375 True orofaciodigital syndrome VIII orofaciodigital syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0010337 MONDO:0020022 True X-linked intellectual disability-cerebellar hypoplasia syndrome central nervous system malformation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010337 MONDO:0020119 True X-linked intellectual disability-cerebellar hypoplasia syndrome X-linked syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0010338 MONDO:0000425 True X-linked distal spinal muscular atrophy type 3 X-linked disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0010338 MONDO:0001516 True X-linked distal spinal muscular atrophy type 3 spinal muscular atrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0010338 MONDO:0018894 True X-linked distal spinal muscular atrophy type 3 distal hereditary motor neuropathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010339 MONDO:0859390 True epilepsy, X-linked 1, with variable learning disabilities and behavior disorders epilepsy, X-linked, with or without impaired intellectual development and dysmorphic features UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0010322 MONDO:0019181 True intellectual disability, X-linked 2 non-syndromic X-linked intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0010324 MONDO:0019181 True intellectual disability, X-linked 81 non-syndromic X-linked intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0010325 MONDO:0020119 True X-linked intellectual disability, Stocco dos Santos type X-linked syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0010326 MONDO:0019181 True intellectual disability, X-linked 46 non-syndromic X-linked intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0010329 MONDO:0019181 True intellectual disability, X-linked 77 non-syndromic X-linked intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0010333 MONDO:0020119 True corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome X-linked syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0010336 MONDO:0015375 True orofaciodigital syndrome VIII orofaciodigital syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0010337 MONDO:0020119 True X-linked intellectual disability-cerebellar hypoplasia syndrome X-linked syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS MONDO:0010341 MONDO:0020836 True autism, susceptibility to, X-linked 2 autism, susceptiblity to UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0010342 MONDO:0020836 True autism, susceptibility to, X-linked 3 autism, susceptiblity to UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0010344 MONDO:0019181 True intellectual disability, X-linked 45 non-syndromic X-linked intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0010347 MONDO:0019181 True intellectual disability, X-linked 84 non-syndromic X-linked intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0010349 MONDO:0009299 True ovarian dysgenesis 2 46 XX gonadal dysgenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0010344 MONDO:0019181 True intellectual disability, X-linked 45 non-syndromic X-linked intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0010347 MONDO:0019181 True intellectual disability, X-linked 84 non-syndromic X-linked intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0010349 MONDO:0009299 True ovarian dysgenesis 2 46 XX gonadal dysgenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS MONDO:0010350 MONDO:0019852 True premature ovarian failure 2A inherited primary ovarian failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0010351 MONDO:0019391 True Fanconi anemia complementation group B Fanconi anemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0010352 MONDO:0019181 True intellectual disability, X-linked 82 non-syndromic X-linked intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0010355 MONDO:0015159 True syndromic X-linked intellectual disability Claes-Jensen type multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010355 MONDO:0020119 True syndromic X-linked intellectual disability Claes-Jensen type X-linked syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0010356 MONDO:0015962 True nephrogenic syndrome of inappropriate antidiuresis inherited renal tubular disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010358 MONDO:0020605 True hypophosphatemic rickets, X-linked recessive X-linked recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0010359 MONDO:0015612 True Dent disease type 2 Dent disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0010361 MONDO:0019181 True intellectual disability, X-linked 30 non-syndromic X-linked intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0010362 MONDO:0002412 True glycogen storage disease IXd disorder of glycogen metabolism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0010363 MONDO:0019181 True intellectual disability, X-linked 91 non-syndromic X-linked intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0010364 MONDO:0017004 True X-linked intellectual disability-retinitis pigmentosa syndrome partial monosomy of the short arm of chromosome X UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010365 MONDO:0009711 True myopathy, congenital, with fiber-type disproportion, X-linked congenital fiber-type disproportion myopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0010351 MONDO:0019391 True Fanconi anemia complementation group B Fanconi anemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0010352 MONDO:0019181 True intellectual disability, X-linked 82 non-syndromic X-linked intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0010355 MONDO:0020119 True syndromic X-linked intellectual disability Claes-Jensen type X-linked syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0010359 MONDO:0015612 True Dent disease type 2 Dent disease UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0010361 MONDO:0019181 True intellectual disability, X-linked 30 non-syndromic X-linked intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0010363 MONDO:0019181 True intellectual disability, X-linked 91 non-syndromic X-linked intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS MONDO:0010366 MONDO:0002010 True FG syndrome 5 FG syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0010367 MONDO:0018230 True SHOX-related short stature skeletal dysplasia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010369 MONDO:0005712 True nystagmus 5, congenital, X-linked congenital nystagmus UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0010370 MONDO:0016033 True Cornelia de Lange syndrome 2 Cornelia de Lange syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0010371 MONDO:0000425 True Aland island eye disease X-linked disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0010369 MONDO:0005712 True nystagmus 5, congenital, X-linked congenital nystagmus UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0010370 MONDO:0016033 True Cornelia de Lange syndrome 2 Cornelia de Lange syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS MONDO:0010373 MONDO:0019852 True premature ovarian failure 2B inherited primary ovarian failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0010374 MONDO:0019200 True retinitis pigmentosa 34 retinitis pigmentosa UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0010375 MONDO:0016160 True developmental and epileptic encephalopathy, 8 X-linked intellectual disability-epilepsy syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010375 MONDO:0100062 True developmental and epileptic encephalopathy, 8 developmental and epileptic encephalopathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0010374 MONDO:0019200 True retinitis pigmentosa 34 retinitis pigmentosa UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0010375 MONDO:0100062 True developmental and epileptic encephalopathy, 8 developmental and epileptic encephalopathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS MONDO:0010377 MONDO:0001384 True myopia 13, X-linked myopia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0010378 MONDO:0015364 True X-linked hereditary sensory and autonomic neuropathy with hearing loss hereditary sensory and autonomic neuropathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS MONDO:0010378 MONDO:0021944 True X-linked hereditary sensory and autonomic neuropathy with hearing loss auditory neuropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0010379 MONDO:0004736 True Brunner syndrome inborn disorder of amino acid metabolism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0010379 MONDO:0019219 True Brunner syndrome inborn disorder of neurotransmitter metabolism and transport UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010379 MONDO:0020605 True Brunner syndrome X-linked recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0010382 MONDO:0016612 True fragile X-associated tremor/ataxia syndrome X-linked cerebellar ataxia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0010383 MONDO:0002254 True fragile X syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0010383 MONDO:0003847 True fragile X syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0010382 MONDO:0002254 True fragile X-associated tremor/ataxia syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0010383 MONDO:0002254 True fragile X syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0010383 MONDO:0003847 True fragile X syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0010384 MONDO:0005345 True hypospadias 1, X-linked hypospadias UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0010385 MONDO:0010627 True X-linked lymphoproliferative disease due to XIAP deficiency X-linked lymphoproliferative syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0010385 MONDO:0020605 True X-linked lymphoproliferative disease due to XIAP deficiency X-linked recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0010386 MONDO:0003778 True immunodeficiency 33 inborn error of immunity UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0010389 MONDO:0017905 True X-linked Mendelian susceptibility to mycobacterial diseases due to CYBB deficiency X-linked Mendelian susceptibility to mycobacterial diseases UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010390 MONDO:0017304 True ocular albinism with late-onset sensorineural deafness ocular albinism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010392 MONDO:0002412 True glycogen storage disease due to phosphoglycerate kinase 1 deficiency disorder of glycogen metabolism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS -MONDO:0010393 MONDO:0019181 True intellectual disability, X-linked 93 non-syndromic X-linked intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0010395 MONDO:0019236 True phosphoribosylpyrophosphate synthetase superactivity inborn disorder of purine metabolism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010396 MONDO:0100062 True developmental and epileptic encephalopathy, 2 developmental and epileptic encephalopathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0010397 MONDO:0015653 True severe neonatal-onset encephalopathy with microcephaly monogenic epilepsy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010397 MONDO:0020070 True severe neonatal-onset encephalopathy with microcephaly neonatal epilepsy syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010398 MONDO:0020119 True syndromic X-linked intellectual disability 14 X-linked syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0010399 MONDO:0010613 True chromosome Xp21 deletion syndrome inborn glycerol kinase deficiency UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS -MONDO:0010399 MONDO:0017004 True chromosome Xp21 deletion syndrome partial monosomy of the short arm of chromosome X UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010402 MONDO:0020119 True syndromic X-linked intellectual disability 94 X-linked syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0010403 MONDO:0019290 True albinism-hearing loss syndrome hypopigmentation of the skin UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010404 MONDO:0016612 True X-linked non progressive cerebellar ataxia X-linked cerebellar ataxia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0010406 MONDO:0019181 True chromosome Xp11.22 duplication syndrome non-syndromic X-linked intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0010407 MONDO:0020119 True intellectual disability, X-linked syndromic, Turner type X-linked syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0010408 MONDO:0002254 True syndactyly-telecanthus-anogenital and renal malformations syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0010408 MONDO:0015161 True syndactyly-telecanthus-anogenital and renal malformations syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010408 MONDO:0019054 True syndactyly-telecanthus-anogenital and renal malformations syndrome congenital limb malformation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010409 MONDO:0020119 True syndromic X-linked intellectual disability Shrimpton type X-linked syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0010385 MONDO:0010627 True X-linked lymphoproliferative disease due to XIAP deficiency X-linked lymphoproliferative syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0010393 MONDO:0019181 True intellectual disability, X-linked 93 non-syndromic X-linked intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0010396 MONDO:0100062 True developmental and epileptic encephalopathy, 2 developmental and epileptic encephalopathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0010398 MONDO:0020119 True syndromic X-linked intellectual disability 14 X-linked syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0010402 MONDO:0020119 True syndromic X-linked intellectual disability 94 X-linked syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0010406 MONDO:0019181 True chromosome Xp11.22 duplication syndrome non-syndromic X-linked intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0010407 MONDO:0020119 True intellectual disability, X-linked syndromic, Turner type X-linked syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0010409 MONDO:0020119 True syndromic X-linked intellectual disability Shrimpton type X-linked syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS MONDO:0010410 MONDO:0000005 True alopecia, androgenetic, 2 alopecia, isolated UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0010411 MONDO:0100239 True pyloric stenosis, infantile hypertrophic, 4 inherited hypertrophic pyloric stenosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0010413 MONDO:0019181 True intellectual disability, X-linked 95 non-syndromic X-linked intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0010417 MONDO:0020022 True syndromic X-linked intellectual disability Najm type central nervous system malformation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010417 MONDO:0020119 True syndromic X-linked intellectual disability Najm type X-linked syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0010418 MONDO:0015149 True hereditary spastic paraplegia 34 pure hereditary spastic paraplegia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010417 MONDO:0020119 True syndromic X-linked intellectual disability Najm type X-linked syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS MONDO:0010420 MONDO:0001676 True X-linked erythropoietic protoporphyria erythropoietic protoporphyria UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0010421 MONDO:0016462 True Bruton-type agammaglobulinemia isolated agammaglobulinemia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010422 MONDO:0004975 True Alzheimer disease 16 Alzheimer disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0010423 MONDO:0005345 True hypospadias 2, X-linked hypospadias UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0010424 MONDO:0012580 True surfactant metabolism dysfunction, pulmonary, 4 hereditary pulmonary alveolar proteinosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0010425 MONDO:0000763 True Lisch epithelial corneal dystrophy epithelial and subepithelial corneal dystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0010425 MONDO:0020212 True Lisch epithelial corneal dystrophy superficial corneal dystrophy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010426 MONDO:0000766 True X-linked endothelial corneal dystrophy corneal endothelial dystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0010426 MONDO:0020214 True X-linked endothelial corneal dystrophy posterior corneal dystrophy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010427 MONDO:0020119 True syndromic X-linked intellectual disability Raymond type X-linked syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0010428 MONDO:0015159 True chromosome Xp11.23-p11.22 duplication syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010428 MONDO:0017009 True chromosome Xp11.23-p11.22 duplication syndrome partial duplication of the short arm of chromosome X UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010429 MONDO:0019181 True intellectual disability, X-linked 96 non-syndromic X-linked intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0010430 MONDO:0019181 True intellectual disability, X-linked 97 non-syndromic X-linked intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0010431 MONDO:0018772 True Joubert syndrome 10 Joubert syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0010427 MONDO:0020119 True syndromic X-linked intellectual disability Raymond type X-linked syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0010429 MONDO:0019181 True intellectual disability, X-linked 96 non-syndromic X-linked intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0010430 MONDO:0019181 True intellectual disability, X-linked 97 non-syndromic X-linked intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0010431 MONDO:0018772 True Joubert syndrome 10 Joubert syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS MONDO:0010432 MONDO:0100240 True thrombophilia, X-linked, due to factor 9 defect inherited thrombophilia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0010434 MONDO:0018078 True synovial sarcoma soft tissue sarcoma UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010435 MONDO:0005712 True nystagmus 6, congenital, X-linked congenital nystagmus UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0010437 MONDO:0000732 True severe X-linked mitochondrial encephalomyopathy combined oxidative phosphorylation deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0010434 MONDO:0018078 True synovial sarcoma soft tissue sarcoma UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010435 MONDO:0005712 True nystagmus 6, congenital, X-linked congenital nystagmus UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0010437 MONDO:0000732 True severe X-linked mitochondrial encephalomyopathy combined oxidative phosphorylation deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS MONDO:0010438 MONDO:0100244 True paroxysmal nocturnal hemoglobinuria 1 paroxysmal nocturnal hemoglobinuria UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0010440 MONDO:0020836 True autism, susceptibility to, X-linked 4 autism, susceptiblity to UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0010441 MONDO:0003847 True CK syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0010442 MONDO:0100249 True 46,XX sex reversal 3 46,XX testicular disorder of sex development UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0010444 MONDO:0019403 True X-linked dyserythropoetic anemia with abnormal platelets and neutropenia congenital dyserythropoietic anemia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS -MONDO:0010447 MONDO:0019181 True intellectual disability, X-linked 19 non-syndromic X-linked intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0010447 MONDO:0019181 True intellectual disability, X-linked 19 non-syndromic X-linked intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS MONDO:0010448 MONDO:0016820 True moyamoya angiopathy-short stature-facial dysmorphism-hypergonadotropic hypogonadism syndrome Moyamoya disease UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0010449 MONDO:0020836 True autism, susceptibility to, X-linked 5 autism, susceptiblity to UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0010450 MONDO:0019181 True intellectual disability, X-linked 89 non-syndromic X-linked intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0010451 MONDO:0019181 True intellectual disability, X-linked 41 non-syndromic X-linked intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0010452 MONDO:0019181 True intellectual disability, X-linked 90 non-syndromic X-linked intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0010453 MONDO:0019181 True intellectual disability, X-linked 92 non-syndromic X-linked intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0010454 MONDO:0019181 True intellectual disability, X-linked 88 non-syndromic X-linked intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0010455 MONDO:0015131 True X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia combined immunodeficiency UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0010457 MONDO:0015333 True Ogden syndrome progeroid syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0010450 MONDO:0019181 True intellectual disability, X-linked 89 non-syndromic X-linked intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0010451 MONDO:0019181 True intellectual disability, X-linked 41 non-syndromic X-linked intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0010452 MONDO:0019181 True intellectual disability, X-linked 90 non-syndromic X-linked intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0010453 MONDO:0019181 True intellectual disability, X-linked 92 non-syndromic X-linked intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0010454 MONDO:0019181 True intellectual disability, X-linked 88 non-syndromic X-linked intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS MONDO:0010458 MONDO:0005345 True hypospadias 4, X-linked hypospadias UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0010459 MONDO:0005144 True amyotrophic lateral sclerosis type 15 familial amyotrophic lateral sclerosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0010460 MONDO:0020119 True syndromic X-linked intellectual disability 17 X-linked syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0010461 MONDO:0020119 True syndromic X-linked intellectual disability Nascimento type X-linked syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0010462 MONDO:0020119 True syndromic X-linked intellectual disability Chudley-Schwartz type X-linked syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0010463 MONDO:0002254 True X-linked dominant chondrodysplasia, Chassaing-Lacombe type syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0010463 MONDO:0003847 True X-linked dominant chondrodysplasia, Chassaing-Lacombe type hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0010464 MONDO:0020022 True X-linked cerebral-cerebellar-coloboma syndrome syndrome central nervous system malformation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010460 MONDO:0020119 True syndromic X-linked intellectual disability 17 X-linked syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0010461 MONDO:0020119 True syndromic X-linked intellectual disability Nascimento type X-linked syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0010462 MONDO:0020119 True syndromic X-linked intellectual disability Chudley-Schwartz type X-linked syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS MONDO:0010465 MONDO:0016512 True Kabuki syndrome 2 Kabuki syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0010466 MONDO:0015327 True multiple congenital anomalies-hypotonia-seizures syndrome 2 developmental anomaly of metabolic origin UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010466 MONDO:0017748 True multiple congenital anomalies-hypotonia-seizures syndrome 2 inborn disorder of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010466 MONDO:0100062 True multiple congenital anomalies-hypotonia-seizures syndrome 2 developmental and epileptic encephalopathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0010466 MONDO:0100247 True multiple congenital anomalies-hypotonia-seizures syndrome 2 multiple congenital anomalies-hypotonia-seizures syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0010467 MONDO:0017010 True Xq27.3q28 duplication syndrome partial duplication of the long arm of chromosome X UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010468 MONDO:0016483 True aneurysm, intracranial berry, 5 intracranial berry aneurysm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0010466 MONDO:0100247 True multiple congenital anomalies-hypotonia-seizures syndrome 2 multiple congenital anomalies-hypotonia-seizures syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0010468 MONDO:0016483 True aneurysm, intracranial berry, 5 intracranial berry aneurysm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS MONDO:0010469 MONDO:0020836 True epsilon-trimethyllysine hydroxylase deficiency autism, susceptiblity to UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0010471 MONDO:0016033 True Cornelia de Lange syndrome 5 Cornelia de Lange syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0010471 MONDO:0016033 True Cornelia de Lange syndrome 5 Cornelia de Lange syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS MONDO:0010472 MONDO:0005500 True developmental and epileptic encephalopathy, 36 congenital disorder of glycosylation type I UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0010472 MONDO:0017740 True developmental and epileptic encephalopathy, 36 disorder of protein N-glycosylation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010472 MONDO:0100062 True developmental and epileptic encephalopathy, 36 developmental and epileptic encephalopathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0010473 MONDO:0020119 True X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome X-linked syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0010474 MONDO:0010672 True linear skin defects with multiple congenital anomalies 2 linear skin defects with multiple congenital anomalies UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0010475 MONDO:0000425 True X-linked central congenital hypothyroidism with late-onset testicular enlargement X-linked disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0010475 MONDO:0002254 True X-linked central congenital hypothyroidism with late-onset testicular enlargement syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0010475 MONDO:0016410 True X-linked central congenital hypothyroidism with late-onset testicular enlargement central congenital hypothyroidism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010476 MONDO:0018307 True neurodegeneration with brain iron accumulation 5 neurodegeneration with brain iron accumulation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0010478 MONDO:0005501 True SLC35A2-congenital disorder of glycosylation congenital disorder of glycosylation type II UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0010478 MONDO:0015327 True SLC35A2-congenital disorder of glycosylation developmental anomaly of metabolic origin UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010478 MONDO:0017749 True SLC35A2-congenital disorder of glycosylation disorder of multiple glycosylation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010479 MONDO:0018994 True Charcot-Marie-Tooth disease X-linked dominant 6 Charcot-Marie-Tooth disease type X UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0010484 MONDO:0019586 True hearing loss, X-linked 6 X-linked nonsyndromic hearing loss UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0010485 MONDO:0000425 True X-linked colobomatous microphthalmia-microcephaly-intellectual disability-short stature syndrome X-linked disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0010485 MONDO:0015159 True X-linked colobomatous microphthalmia-microcephaly-intellectual disability-short stature syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010485 MONDO:0016073 True X-linked colobomatous microphthalmia-microcephaly-intellectual disability-short stature syndrome syndromic microphthalmia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0010486 MONDO:0031421 True Olmsted syndrome, X-linked Olmsted syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0010487 MONDO:0019181 True intellectual disability, X-linked 99 non-syndromic X-linked intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0010488 MONDO:0019181 True intellectual disability, X-linked 100 non-syndromic X-linked intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0010489 MONDO:0019181 True intellectual disability, X-linked 101 non-syndromic X-linked intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0010490 MONDO:0005500 True SSR4-congenital disorder of glycosylation congenital disorder of glycosylation type I UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0010490 MONDO:0015159 True SSR4-congenital disorder of glycosylation multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010490 MONDO:0017740 True SSR4-congenital disorder of glycosylation disorder of protein N-glycosylation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010472 MONDO:0100062 True developmental and epileptic encephalopathy, 36 developmental and epileptic encephalopathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0010473 MONDO:0020119 True X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome X-linked syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0010474 MONDO:0010672 True linear skin defects with multiple congenital anomalies 2 linear skin defects with multiple congenital anomalies UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0010475 MONDO:0002254 True X-linked central congenital hypothyroidism with late-onset testicular enlargement syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0010476 MONDO:0018307 True neurodegeneration with brain iron accumulation 5 neurodegeneration with brain iron accumulation UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0010478 MONDO:0005501 True SLC35A2-congenital disorder of glycosylation congenital disorder of glycosylation type II UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0010485 MONDO:0016073 True X-linked colobomatous microphthalmia-microcephaly-intellectual disability-short stature syndrome syndromic microphthalmia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0010486 MONDO:0031421 True Olmsted syndrome, X-linked Olmsted syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0010487 MONDO:0019181 True intellectual disability, X-linked 99 non-syndromic X-linked intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0010488 MONDO:0019181 True intellectual disability, X-linked 100 non-syndromic X-linked intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0010489 MONDO:0019181 True intellectual disability, X-linked 101 non-syndromic X-linked intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0010490 MONDO:0005500 True SSR4-congenital disorder of glycosylation congenital disorder of glycosylation type I UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS MONDO:0010492 MONDO:0017824 True pituitary adenoma, growth hormone-secreting, 2 familial isolated pituitary adenoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0010493 MONDO:0015253 True Diamond-Blackfan anemia 14 with mandibulofacial dysostosis Diamond-Blackfan anemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0010494 MONDO:0010672 True linear skin defects with multiple congenital anomalies 3 linear skin defects with multiple congenital anomalies UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0010495 MONDO:0018053 True trichothiodystrophy 5, nonphotosensitive trichothiodystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0010496 MONDO:0015159 True X-linked intellectual disability-short stature-overweight syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010496 MONDO:0020119 True X-linked intellectual disability-short stature-overweight syndrome X-linked syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED -MONDO:0010498 MONDO:0019240 True MEND syndrome sterol biosynthesis disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010499 MONDO:0019078 True Ritscher-Schinzel syndrome 2 Ritscher-Schinzel syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0010493 MONDO:0015253 True Diamond-Blackfan anemia 14 with mandibulofacial dysostosis Diamond-Blackfan anemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0010494 MONDO:0010672 True linear skin defects with multiple congenital anomalies 3 linear skin defects with multiple congenital anomalies UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0010495 MONDO:0018053 True trichothiodystrophy 5, nonphotosensitive trichothiodystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0010499 MONDO:0019078 True Ritscher-Schinzel syndrome 2 Ritscher-Schinzel syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS MONDO:0010500 MONDO:0020119 True intellectual disability, X-linked, syndromic 33 X-linked syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0010501 MONDO:0015159 True syndromic X-linked intellectual disability 34 multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010501 MONDO:0020119 True syndromic X-linked intellectual disability 34 X-linked syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0010502 MONDO:0020119 True intellectual disability, X-linked 99, syndromic, female-restricted X-linked syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED -MONDO:0010503 MONDO:0015231 True Bartter disease type 5 Bartter syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0010504 MONDO:0003778 True immunodeficiency 47 inborn error of immunity UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0010505 MONDO:0015159 True intellectual disability-balding-patella luxation-acromicria syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010505 MONDO:0019695 True intellectual disability-balding-patella luxation-acromicria syndrome acromelic dysplasia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010501 MONDO:0020119 True syndromic X-linked intellectual disability 34 X-linked syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0010503 MONDO:0015231 True Bartter disease type 5 Bartter syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS MONDO:0010506 MONDO:0019181 True intellectual disability, X-linked 61 non-syndromic X-linked intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0010507 MONDO:0017010 True Xq25 microduplication syndrome partial duplication of the long arm of chromosome X UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010508 MONDO:0019181 True intellectual disability, X-linked 103 non-syndromic X-linked intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0010509 MONDO:0019181 True intellectual disability, X-linked 104 non-syndromic X-linked intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0010510 MONDO:0019181 True intellectual disability, X-linked 105 non-syndromic X-linked intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0010511 MONDO:0018801 True vas deferens, congenital bilateral aplasia of, X-linked congenital bilateral absence of vas deferens UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0010508 MONDO:0019181 True intellectual disability, X-linked 103 non-syndromic X-linked intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0010509 MONDO:0019181 True intellectual disability, X-linked 104 non-syndromic X-linked intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0010510 MONDO:0019181 True intellectual disability, X-linked 105 non-syndromic X-linked intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0010511 MONDO:0018801 True vas deferens, congenital bilateral aplasia of, X-linked congenital bilateral absence of vas deferens UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS MONDO:0010512 MONDO:0020119 True intellectual disability, X-linked, syndromic, Bain type X-linked syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0010514 MONDO:0003778 True combined immunodeficiency due to moesin deficiency inborn error of immunity UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0010514 MONDO:0021094 True combined immunodeficiency due to moesin deficiency immunodeficiency disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0010515 MONDO:0002254 True Meester-Loeys syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0010515 MONDO:0003847 True Meester-Loeys syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0010516 MONDO:0003847 True midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0010517 MONDO:0016575 True ciliary dyskinesia, primary, 36, X-linked primary ciliary dyskinesia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0010518 MONDO:0000425 True Wiskott-Aldrich syndrome X-linked disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0010518 MONDO:0015356 True Wiskott-Aldrich syndrome hereditary neoplastic syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010518 MONDO:0021181 True Wiskott-Aldrich syndrome inherited blood coagulation disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010519 MONDO:0020040 True alpha thalassemia-X-linked intellectual disability syndrome 46,XY disorder of sex development UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010520 MONDO:0000425 True X-linked Alport syndrome X-linked disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0010520 MONDO:0018965 True X-linked Alport syndrome Alport syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0010522 MONDO:0019507 True X-linked amelogenesis imperfecta hypoplastic/hypomaturation 2 amelogenesis imperfecta UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0010524 MONDO:0016612 True X-linked sideroblastic anemia with ataxia X-linked cerebellar ataxia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0010524 MONDO:0020099 True X-linked sideroblastic anemia with ataxia inherited sideroblastic anemia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING -MONDO:0010526 MONDO:0015327 True Fabry disease developmental anomaly of metabolic origin UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010526 MONDO:0019255 True Fabry disease sphingolipidosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0010529 MONDO:0016612 True X-linked spinocerebellar ataxia type 3 X-linked cerebellar ataxia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0010531 MONDO:0019287 True contractures-ectodermal dysplasia-cleft lip/palate syndrome ectodermal dysplasia syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING -MONDO:0010532 MONDO:0001516 True infantile-onset X-linked spinal muscular atrophy spinal muscular atrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0010532 MONDO:0015168 True infantile-onset X-linked spinal muscular atrophy arthrogryposis multiplex congenita UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS -MONDO:0010532 MONDO:0024257 True infantile-onset X-linked spinal muscular atrophy hereditary motor neuron disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010533 MONDO:0003847 True Arts syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0010534 MONDO:0016612 True X-linked spinocerebellar ataxia type 4 X-linked cerebellar ataxia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0010537 MONDO:0020119 True Borjeson-Forssman-Lehmann syndrome X-linked syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0010538 MONDO:0019054 True Mononen-Karnes-Senac syndrome congenital limb malformation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010517 MONDO:0016575 True ciliary dyskinesia, primary, 36, X-linked primary ciliary dyskinesia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0010518 MONDO:0015131 True Wiskott-Aldrich syndrome combined immunodeficiency UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0010518 MONDO:0015356 True Wiskott-Aldrich syndrome hereditary neoplastic syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010520 MONDO:0018965 True X-linked Alport syndrome Alport syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0010522 MONDO:0019507 True X-linked amelogenesis imperfecta hypoplastic/hypomaturation 2 amelogenesis imperfecta UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0010526 MONDO:0019255 True Fabry disease sphingolipidosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0010537 MONDO:0020119 True Borjeson-Forssman-Lehmann syndrome X-linked syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS MONDO:0010542 MONDO:0016333 True dilated cardiomyopathy 3B familial dilated cardiomyopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0010543 MONDO:0009637 True Barth syndrome inborn mitochondrial myopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0010543 MONDO:0015134 True Barth syndrome constitutional neutropenia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010543 MONDO:0016333 True Barth syndrome familial dilated cardiomyopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING -MONDO:0010543 MONDO:0017359 True Barth syndrome 3-methylglutaconic aciduria UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0010543 MONDO:0018117 True Barth syndrome disorder of phospholipids, sphingolipids and fatty acids biosynthesis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010545 MONDO:0003847 True Nance-Horan syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0010547 MONDO:0016612 True X-linked progressive cerebellar ataxia X-linked cerebellar ataxia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0010548 MONDO:0016612 True spinocerebellar ataxia, X-linked 2 X-linked cerebellar ataxia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0010549 MONDO:0018994 True Charcot-Marie-Tooth disease X-linked dominant 1 Charcot-Marie-Tooth disease type X UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0010550 MONDO:0018994 True Charcot-Marie-Tooth disease X-linked recessive 2 Charcot-Marie-Tooth disease type X UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0010551 MONDO:0018994 True Charcot-Marie-Tooth disease X-linked recessive 3 Charcot-Marie-Tooth disease type X UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0010554 MONDO:0002254 True Abruzzo-Erickson syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0010554 MONDO:0003847 True Abruzzo-Erickson syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0010554 MONDO:0015161 True Abruzzo-Erickson syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010556 MONDO:0000425 True X-linked chondrodysplasia punctata X-linked disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0010557 MONDO:0001898 True choroideremia optic choroid disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0010559 MONDO:0015150 True MASA syndrome complex hereditary spastic paraplegia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010559 MONDO:0017140 True MASA syndrome L1 syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010560 MONDO:0016064 True cleft palate with or without ankyloglossia, X-linked cleft palate UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0010563 MONDO:0018852 True blue cone monochromacy achromatopsia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0010563 MONDO:0020605 True blue cone monochromacy X-linked recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0010565 MONDO:0001703 True red color blindness color vision disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0010565 MONDO:0005328 True red color blindness eye disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0010568 MONDO:0002254 True Aicardi syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0010569 MONDO:0017140 True X-linked complicated corpus callosum dysgenesis L1 syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010570 MONDO:0002254 True craniofrontonasal syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0010572 MONDO:0017762 True occipital horn syndrome disorder of copper metabolism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010574 MONDO:0015159 True syndromic X-linked intellectual disability 5 multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010574 MONDO:0020022 True syndromic X-linked intellectual disability 5 central nervous system malformation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010574 MONDO:0020119 True syndromic X-linked intellectual disability 5 X-linked syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0010576 MONDO:0019586 True X-linked mixed hearing loss with perilymphatic gusher X-linked nonsyndromic hearing loss UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0010577 MONDO:0019586 True hearing loss, X-linked 1 X-linked nonsyndromic hearing loss UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0010578 MONDO:0024237 True deafness dystonia syndrome inherited neurodegenerative disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010580 MONDO:0003847 True immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0010580 MONDO:0015126 True immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome polyendocrinopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010580 MONDO:0019787 True immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome autoimmune enteropathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010581 MONDO:0000425 True diabetes insipidus, nephrogenic, X-linked X-linked disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0010581 MONDO:0016383 True diabetes insipidus, nephrogenic, X-linked nephrogenic diabetes insipidus UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0010584 MONDO:0000425 True dyskeratosis congenita, X-linked X-linked disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0010585 MONDO:0000425 True X-linked hypohidrotic ectodermal dysplasia X-linked disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0010585 MONDO:0016535 True X-linked hypohidrotic ectodermal dysplasia hypohidrotic ectodermal dysplasia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0010586 MONDO:0020066 True X-linked Ehlers-Danlos syndrome Ehlers-Danlos syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010588 MONDO:0000425 True exudative vitreoretinopathy 2, X-linked X-linked disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0010588 MONDO:0019516 True exudative vitreoretinopathy 2, X-linked exudative vitreoretinopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0010589 MONDO:0000425 True Aarskog-Scott syndrome, X-linked X-linked disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0010543 MONDO:0017359 True Barth syndrome 3-methylglutaconic aciduria UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0010568 MONDO:0002254 True Aicardi syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0010574 MONDO:0020119 True syndromic X-linked intellectual disability 5 X-linked syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0010580 MONDO:0002254 True immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0010586 MONDO:0020066 True X-linked Ehlers-Danlos syndrome Ehlers-Danlos syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010588 MONDO:0019516 True exudative vitreoretinopathy 2, X-linked exudative vitreoretinopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS MONDO:0010589 MONDO:0002010 True Aarskog-Scott syndrome, X-linked FG syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0010589 MONDO:0021005 True Aarskog-Scott syndrome, X-linked faciodigitogenital syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0010591 MONDO:0019952 True fingerprint body myopathy congenital myopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING -MONDO:0010592 MONDO:0019755 True focal dermal hypoplasia developmental defect during embryogenesis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010600 MONDO:0018305 True granulomatous disease, chronic, X-linked chronic granulomatous disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0010602 MONDO:0000425 True hemophilia A X-linked disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0010602 MONDO:0018660 True hemophilia A hemophilia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010602 MONDO:0021181 True hemophilia A inherited blood coagulation disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010604 MONDO:0018660 True hemophilia B hemophilia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010604 MONDO:0021181 True hemophilia B inherited blood coagulation disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010606 MONDO:0005711 True hernia, anterior diaphragmatic congenital diaphragmatic hernia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0010600 MONDO:0018305 True granulomatous disease, chronic, X-linked chronic granulomatous disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0010602 MONDO:0018660 True hemophilia A hemophilia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010604 MONDO:0018660 True hemophilia B hemophilia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010607 MONDO:0018677 True heterotaxy, visceral, 1, X-linked visceral heterotaxy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0010610 MONDO:0020022 True holoprosencephaly-hypokinesia-congenital contractures syndrome central nervous system malformation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010611 MONDO:0016349 True X-linked hydrocephalus with stenosis of the aqueduct of Sylvius congenital hydrocephalus UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0010611 MONDO:0017140 True X-linked hydrocephalus with stenosis of the aqueduct of Sylvius L1 syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010613 MONDO:0019052 True inborn glycerol kinase deficiency inborn errors of metabolism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0010614 MONDO:0016381 True X-linked congenital generalized hypertrichosis hypertrichosis lanuginosa congenita UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING -MONDO:0010615 MONDO:0000050 True isolated growth hormone deficiency type III isolated congenital growth hormone deficiency UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0010617 MONDO:0015159 True male hypergonadotropic hypogonadism-intellectual disability-skeletal anomalies syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010619 MONDO:0020604 True X-linked dominant hypophosphatemic rickets X-linked dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0010621 MONDO:0015161 True CHILD syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010621 MONDO:0017269 True CHILD syndrome X-linked ichthyosis syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010621 MONDO:0019240 True CHILD syndrome sterol biosynthesis disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010621 MONDO:0019701 True CHILD syndrome chondrodysplasia punctata UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0010622 MONDO:0015947 True recessive X-linked ichthyosis inherited ichthyosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010622 MONDO:0020605 True recessive X-linked ichthyosis X-linked recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0010626 MONDO:0000425 True hyper-IgM syndrome type 1 X-linked disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0010626 MONDO:0003947 True hyper-IgM syndrome type 1 hyper-IgM syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0010627 MONDO:0000425 True X-linked lymphoproliferative syndrome X-linked disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0010627 MONDO:0015541 True X-linked lymphoproliferative syndrome hereditary hemophagocytic lymphohistiocytosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010627 MONDO:0016537 True X-linked lymphoproliferative syndrome lymphoproliferative syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0010631 MONDO:0019287 True incontinentia pigmenti ectodermal dysplasia syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS -MONDO:0010632 MONDO:0100062 True developmental and epileptic encephalopathy, 1 developmental and epileptic encephalopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0010637 MONDO:0000136 True keratosis follicularis spinulosa decalvans, X-linked keratosis follicularis spinulosa decalvans UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0010641 MONDO:0017007 True X-linked diffuse leiomyomatosis-Alport syndrome partial deletion of the long arm of chromosome X UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010643 MONDO:0005059 True acute leukemia leukemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0010645 MONDO:0002254 True oculocerebrorenal syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0010645 MONDO:0015962 True oculocerebrorenal syndrome inherited renal tubular disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010645 MONDO:0019216 True oculocerebrorenal syndrome inborn disorder of amino acid transport UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010647 MONDO:0004983 True spermatogenic failure, X-linked, 2 spermatogenic failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0010650 MONDO:0018233 True Melnick-Needles syndrome otopalatodigital syndrome spectrum disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0010651 MONDO:0004689 True Menkes disease inborn metal metabolism disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0010651 MONDO:0017762 True Menkes disease disorder of copper metabolism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010653 MONDO:0020119 True Renpenning syndrome X-linked syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0010654 MONDO:0020119 True Partington syndrome X-linked syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0010655 MONDO:0015159 True X-linked intellectual disability with marfanoid habitus multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010656 MONDO:0019181 True intellectual disability, X-linked 1 non-syndromic X-linked intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0010657 MONDO:0016826 True methylmalonic acidemia with homocystinuria, type cblX methylmalonic aciduria and homocystinuria UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0010615 MONDO:0000050 True isolated growth hormone deficiency type III isolated congenital growth hormone deficiency UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0010626 MONDO:0003947 True hyper-IgM syndrome type 1 hyper-IgM syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0010627 MONDO:0021094 True X-linked lymphoproliferative syndrome immunodeficiency disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010632 MONDO:0100062 True developmental and epileptic encephalopathy, 1 developmental and epileptic encephalopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0010635 MONDO:0018800 True hypogonadotropic hypogonadism 1 with or without anosmia Kallmann syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0010643 MONDO:0005059 True acute leukemia leukemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0010645 MONDO:0002254 True oculocerebrorenal syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0010647 MONDO:0004983 True spermatogenic failure, X-linked, 2 spermatogenic failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0010651 MONDO:0002254 True Menkes disease syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0010653 MONDO:0020119 True Renpenning syndrome X-linked syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0010654 MONDO:0020119 True Partington syndrome X-linked syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0010656 MONDO:0019181 True intellectual disability, X-linked 1 non-syndromic X-linked intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0010657 MONDO:0016826 True methylmalonic acidemia with homocystinuria, type cblX methylmalonic aciduria and homocystinuria UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0010657 MONDO:0019181 True methylmalonic acidemia with homocystinuria, type cblX non-syndromic X-linked intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0010658 MONDO:0020119 True syndromic X-linked intellectual disability 12 X-linked syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0010659 MONDO:0019181 True FRAXE intellectual disability non-syndromic X-linked intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0010660 MONDO:0019181 True intellectual disability, X-linked 9 non-syndromic X-linked intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0010661 MONDO:0020119 True severe X-linked intellectual disability, Gustavson type X-linked syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED -MONDO:0010663 MONDO:0003847 True intellectual disability-hypotonic facies syndrome, X-linked, 1 hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0010664 MONDO:0020119 True syndromic X-linked intellectual disability Snyder type X-linked syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0010665 MONDO:0020119 True Wilson-Turner syndrome X-linked syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0010667 MONDO:0020119 True Prieto syndrome X-linked syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0010668 MONDO:0019694 True skeletal dysplasia-intellectual disability syndrome spondylodysplastic dysplasia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010669 MONDO:0019530 True syndactyly type 8 non-syndromic syndactyly UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010671 MONDO:0016073 True microphthalmia, syndromic 1 syndromic microphthalmia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0010672 MONDO:0016073 True linear skin defects with multiple congenital anomalies syndromic microphthalmia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS -MONDO:0010672 MONDO:0019294 True linear skin defects with multiple congenital anomalies mixed dermis disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010674 MONDO:0019249 True mucopolysaccharidosis type 2 mucopolysaccharidosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0010674 MONDO:0800088 True mucopolysaccharidosis type 2 lysosomal storage disease with skeletal involvement UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010679 MONDO:0020121 True Duchenne muscular dystrophy muscular dystrophy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0010680 MONDO:0016830 True X-linked Emery-Dreifuss muscular dystrophy Emery-Dreifuss muscular dystrophy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010683 MONDO:0018947 True X-linked myotubular myopathy centronuclear myopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0010684 MONDO:0016106 True X-linked myopathy with excessive autophagy progressive muscular dystrophy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010684 MONDO:0016112 True X-linked myopathy with excessive autophagy hereditary inclusion-body myopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010658 MONDO:0020119 True syndromic X-linked intellectual disability 12 X-linked syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0010660 MONDO:0019181 True intellectual disability, X-linked 9 non-syndromic X-linked intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0010664 MONDO:0020119 True syndromic X-linked intellectual disability Snyder type X-linked syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0010665 MONDO:0020119 True Wilson-Turner syndrome X-linked syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0010667 MONDO:0020119 True Prieto syndrome X-linked syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0010671 MONDO:0016073 True microphthalmia, syndromic 1 syndromic microphthalmia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0010674 MONDO:0002254 True mucopolysaccharidosis type 2 syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0010674 MONDO:0019249 True mucopolysaccharidosis type 2 mucopolysaccharidosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0010679 MONDO:0020121 True Duchenne muscular dystrophy muscular dystrophy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0010683 MONDO:0018947 True X-linked myotubular myopathy centronuclear myopathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS MONDO:0010685 MONDO:0001384 True myopia 1, X-linked myopia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0010686 MONDO:0015159 True N syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010686 MONDO:0015356 True N syndrome hereditary neoplastic syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010688 MONDO:0015364 True hereditary sensory neuropathy X-linked hereditary sensory and autonomic neuropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED -MONDO:0010689 MONDO:0018994 True Charcot-Marie-Tooth disease X-linked recessive 4 Charcot-Marie-Tooth disease type X UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0010693 MONDO:0005712 True nystagmus 1, congenital, X-linked congenital nystagmus UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0010693 MONDO:0005712 True nystagmus 1, congenital, X-linked congenital nystagmus UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS MONDO:0010698 MONDO:0043878 True optic atrophy 2 hereditary optic atrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0010699 MONDO:0018994 True Charcot-Marie-Tooth disease X-linked recessive 5 Charcot-Marie-Tooth disease type X UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0010699 MONDO:0019236 True Charcot-Marie-Tooth disease X-linked recessive 5 inborn disorder of purine metabolism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010702 MONDO:0002254 True orofaciodigital syndrome I syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0010706 MONDO:0019852 True premature ovarian failure 1 inherited primary ovarian failure UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0010711 MONDO:0003847 True TARP syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0010712 MONDO:0019591 True panhypopituitarism, X-linked panhypopituitarism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0010713 MONDO:0003778 True properdin deficiency, X-linked inborn error of immunity UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0010714 MONDO:0019046 True Pelizaeus-Merzbacher disease leukodystrophy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0010717 MONDO:0019169 True pyruvate dehydrogenase E1-alpha deficiency pyruvate dehydrogenase deficiency UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0010718 MONDO:0018234 True absent radius-anogenital anomalies syndrome dysostosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010718 MONDO:0019054 True absent radius-anogenital anomalies syndrome congenital limb malformation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010720 MONDO:0019154 True partial androgen insensitivity syndrome androgen insensitivity syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED -MONDO:0010723 MONDO:0019200 True retinitis pigmentosa 2 retinitis pigmentosa UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0010725 MONDO:0000425 True X-linked retinoschisis X-linked disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0010725 MONDO:0004579 True X-linked retinoschisis retinoschisis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0010726 MONDO:0000594 True Rett syndrome pervasive developmental disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0010731 MONDO:0019716 True Simpson-Golabi-Behmel syndrome overgrowth syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010732 MONDO:0003847 True spastic paraparesis-deafness syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0010733 MONDO:0019046 True hereditary spastic paraplegia 2 leukodystrophy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS -MONDO:0010733 MONDO:0019064 True hereditary spastic paraplegia 2 hereditary spastic paraplegia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0010735 MONDO:0024237 True Kennedy disease inherited neurodegenerative disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010736 MONDO:0016576 True split hand-foot malformation 2 split hand-foot malformation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0010737 MONDO:0000425 True spondyloepiphyseal dysplasia tarda, X-linked X-linked disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0010737 MONDO:0019667 True spondyloepiphyseal dysplasia tarda, X-linked spondyloepiphyseal dysplasia tarda UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0010738 MONDO:0016763 True spondylometaphyseal dysplasia, Golden type spondylometaphyseal dysplasia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0010702 MONDO:0002254 True orofaciodigital syndrome I syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0010704 MONDO:0002254 True otopalatodigital syndrome type 1 syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0010706 MONDO:0019852 True premature ovarian failure 1 inherited primary ovarian failure UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0010714 MONDO:0019046 True Pelizeaus-Merzbacher spectrum disorder leukodystrophy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0010717 MONDO:0019169 True pyruvate dehydrogenase E1-alpha deficiency pyruvate dehydrogenase deficiency UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0010720 MONDO:0019154 True partial androgen insensitivity syndrome androgen insensitivity syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS +MONDO:0010723 MONDO:0019200 True retinitis pigmentosa 2 retinitis pigmentosa UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0010726 MONDO:0002254 True Rett syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0010731 MONDO:0002254 True Simpson-Golabi-Behmel syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010733 MONDO:0019064 True hereditary spastic paraplegia 2 hereditary spastic paraplegia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0010736 MONDO:0016576 True split hand-foot malformation 2 split hand-foot malformation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0010738 MONDO:0016763 True spondylometaphyseal dysplasia, Golden type spondylometaphyseal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0010741 MONDO:0005486 True tooth agenesis, selective, X-linked, 1 tooth agenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0010742 MONDO:0015161 True pentalogy of Cantrell multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010743 MONDO:0100241 True thrombocytopenia 1 inherited thrombocytopenia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0010745 MONDO:0017145 True beta-thalassemia-X-linked thrombocytopenia syndrome beta-thalassemia and related diseases UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010747 MONDO:0000477 True X-linked dystonia-parkinsonism focal dystonia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0010747 MONDO:0020065 True X-linked dystonia-parkinsonism combined dystonia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010750 MONDO:0018234 True ulnar hypoplasia-split foot syndrome dysostosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010750 MONDO:0019054 True ulnar hypoplasia-split foot syndrome congenital limb malformation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010752 MONDO:0008642 True VACTERL association, X-linked, with or without hydrocephalus VACTERL/vater association UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED -MONDO:0010753 MONDO:0003847 True cardiac valvular dysplasia, X-linked hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0010758 MONDO:0025445 True Wieacker-Wolff syndrome Wieacker-Wolff syndrome (spectrum) UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0010761 MONDO:0000428 True retinitis pigmentosa Y-linked Y-linked disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0010761 MONDO:0019200 True retinitis pigmentosa Y-linked retinitis pigmentosa UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0010763 MONDO:0010595 True spermatogenic failure, Y-linked, 1 Sertoli cell-only syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0010764 MONDO:0033304 True hearing loss, Y-linked 1 nonsyndromic deafness, Y-linked UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0010765 MONDO:0001967 True 46,XY complete gonadal dysgenesis gonadal dysgenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0010767 MONDO:0004983 True spermatogenic failure, Y-linked, 2 spermatogenic failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0010761 MONDO:0019200 True retinitis pigmentosa Y-linked retinitis pigmentosa UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0010764 MONDO:0033304 True hearing loss, Y-linked 1 nonsyndromic deafness, Y-linked UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0010765 MONDO:0001967 True 46,XY complete gonadal dysgenesis gonadal dysgenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0010767 MONDO:0004983 True spermatogenic failure, Y-linked, 2 spermatogenic failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS MONDO:0010768 MONDO:0002478 True gonadoblastoma mixed germ cell-sex cord-stromal tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0010771 MONDO:0004069 True histiocytoid cardiomyopathy inborn mitochondrial metabolism disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0010771 MONDO:0016333 True histiocytoid cardiomyopathy familial dilated cardiomyopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING -MONDO:0010772 MONDO:0020478 True Leber optic atrophy and dystonia Leber plus disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0010775 MONDO:0019501 True retinitis pigmentosa-deafness syndrome Usher syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED -MONDO:0010779 MONDO:0016387 True mitochondrial non-syndromic sensorineural hearing loss mitochondrial oxidative phosphorylation disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010782 MONDO:0000863 True myopathy, lactic acidosis, and sideroblastic anemia 3 myopathy, lactic acidosis, and sideroblastic anemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED -MONDO:0010785 MONDO:0015967 True maternally-inherited diabetes and deafness monogenic diabetes UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010785 MONDO:0016387 True maternally-inherited diabetes and deafness mitochondrial oxidative phosphorylation disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010786 MONDO:0016387 True chronic diarrhea with villous atrophy mitochondrial oxidative phosphorylation disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010787 MONDO:0005181 True Kearns-Sayre syndrome progressive external ophthalmoplegia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0010787 MONDO:0016333 True Kearns-Sayre syndrome familial dilated cardiomyopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING -MONDO:0010787 MONDO:0016387 True Kearns-Sayre syndrome mitochondrial oxidative phosphorylation disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010787 MONDO:0020127 True Kearns-Sayre syndrome hereditary peripheral neuropathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010788 MONDO:0016333 True Leber hereditary optic neuropathy familial dilated cardiomyopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING -MONDO:0010788 MONDO:0016387 True Leber hereditary optic neuropathy mitochondrial oxidative phosphorylation disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010788 MONDO:0020249 True Leber hereditary optic neuropathy hereditary optic neuropathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010789 MONDO:0004675 True MELAS syndrome mitochondrial encephalomyopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0010790 MONDO:0004675 True MERRF syndrome mitochondrial encephalomyopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0010790 MONDO:0016333 True MERRF syndrome familial dilated cardiomyopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING -MONDO:0010790 MONDO:0020127 True MERRF syndrome hereditary peripheral neuropathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010794 MONDO:0016387 True NARP syndrome mitochondrial oxidative phosphorylation disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010794 MONDO:0020127 True NARP syndrome hereditary peripheral neuropathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010787 MONDO:0002254 True Kearns-Sayre syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0010788 MONDO:0043878 True Leber hereditary optic neuropathy hereditary optic atrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0010789 MONDO:0002254 True MELAS syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0010790 MONDO:0002254 True MERRF syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0010795 MONDO:0024276 True oncocytic neoplasm glandular cell neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010800 MONDO:0018105 True Wolfram syndrome, mitochondrial form Wolfram syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0010801 MONDO:0019694 True spondylocamptodactyly syndrome spondylodysplastic dysplasia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010802 MONDO:0002254 True pancreatic hypoplasia-diabetes-congenital heart disease syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0010802 MONDO:0003847 True pancreatic hypoplasia-diabetes-congenital heart disease syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0010803 MONDO:0018230 True Eiken syndrome skeletal dysplasia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010805 MONDO:0017919 True bladder exstrophy exstrophy-epispadias complex UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0010806 MONDO:0019200 True retinitis pigmentosa 13 retinitis pigmentosa UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0010807 MONDO:0019588 True autosomal recessive nonsyndromic hearing loss 2 hearing loss, autosomal recessive UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0010808 MONDO:0005429 True fatal familial insomnia prion disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0010808 MONDO:0024237 True fatal familial insomnia inherited neurodegenerative disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010809 MONDO:0011996 True familial chronic myelocytic leukemia-like syndrome chronic myelogenous leukemia, BCR-ABL1 positive UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED -MONDO:0010811 MONDO:0003105 True benign prostatic hyperplasia prostate disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0010814 MONDO:0002254 True chondrodysplasia-pseudohermaphroditism syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0010814 MONDO:0020040 True chondrodysplasia-pseudohermaphroditism syndrome 46,XY disorder of sex development UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010815 MONDO:0019667 True spondyloepiphyseal dysplasia tarda with characteristic facies spondyloepiphyseal dysplasia tarda UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0010816 MONDO:0002254 True Qazi Markouizos syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0010817 MONDO:0019587 True autosomal dominant nonsyndromic hearing loss 2A autosomal dominant nonsyndromic hearing loss UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0010818 MONDO:0019200 True retinitis pigmentosa 12 retinitis pigmentosa UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0010820 MONDO:0017279 True autosomal recessive juvenile Parkinson disease 2 young-onset Parkinson disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0010821 MONDO:0016226 True familial developmental dysphasia specific language disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010822 MONDO:0016649 True Warburg micro syndrome 1 Warburg micro syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0010823 MONDO:0015776 True rhizomelic chondrodysplasia punctata type 3 rhizomelic chondrodysplasia punctata UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0010824 MONDO:0020040 True disorder of sex development-intellectual disability syndrome 46,XY disorder of sex development UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010825 MONDO:0015161 True atrioventricular defect-blepharophimosis-radial and anal defect syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010826 MONDO:0000414 True childhood absence epilepsy childhood electroclinical syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0010826 MONDO:0015653 True childhood absence epilepsy monogenic epilepsy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010826 MONDO:0020072 True childhood absence epilepsy childhood-onset epilepsy syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010826 MONDO:0850093 True childhood absence epilepsy absence epilepsy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0010827 MONDO:0019200 True retinitis pigmentosa 14 retinitis pigmentosa UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0010828 MONDO:0019200 True retinitis pigmentosa 11 retinitis pigmentosa UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0010830 MONDO:0015674 True neuronal ceroid lipofuscinosis 8 late infantile neuronal ceroid lipofuscinosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010830 MONDO:0019262 True neuronal ceroid lipofuscinosis 8 juvenile neuronal ceroid lipofuscinosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010831 MONDO:0018639 True familial caudal dysgenesis caudal regression-sirenomelia spectrum UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010832 MONDO:0015229 True Bardet-Biedl syndrome 3 Bardet-Biedl syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0010835 MONDO:0015159 True pterygium colli-intellectual disability-digital anomalies syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010797 MONDO:0002254 True Pearson syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0010806 MONDO:0019200 True retinitis pigmentosa 13 retinitis pigmentosa UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0010807 MONDO:0019588 True autosomal recessive nonsyndromic hearing loss 2 hearing loss, autosomal recessive UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0010808 MONDO:0013600 True fatal familial insomnia insomnia UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010811 MONDO:0005043 True benign prostatic hyperplasia hyperplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010817 MONDO:0019587 True autosomal dominant nonsyndromic hearing loss 2A autosomal dominant nonsyndromic hearing loss UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0010818 MONDO:0019200 True retinitis pigmentosa 12 retinitis pigmentosa UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0010822 MONDO:0016649 True Warburg micro syndrome 1 Warburg micro syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0010823 MONDO:0015776 True rhizomelic chondrodysplasia punctata type 3 rhizomelic chondrodysplasia punctata UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0010827 MONDO:0019200 True retinitis pigmentosa 14 retinitis pigmentosa UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0010828 MONDO:0019200 True retinitis pigmentosa 11 retinitis pigmentosa UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0010832 MONDO:0015229 True Bardet-Biedl syndrome 3 Bardet-Biedl syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS MONDO:0010836 MONDO:0005514 True nanophthalmos 1 nanophthalmia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0010837 MONDO:0001741 True primary hyperparathyroidism hyperparathyroidism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0010839 MONDO:0015362 True neuronopathy, distal hereditary motor, autosomal dominant 8 neuronopathy, distal hereditary motor, autosomal dominant UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0010842 MONDO:0000426 True multiple cutaneous and mucosal venous malformations autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0010842 MONDO:0005385 True multiple cutaneous and mucosal venous malformations vascular disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0010844 MONDO:0015627 True epiphyseal dysplasia, multiple, 2 multiple epiphyseal dysplasia due to collagen 9 anomaly UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0010846 MONDO:0005508 True exostoses, multiple, type III hereditary multiple osteochondromas UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0010847 MONDO:0019792 True spinocerebellar ataxia type 4 autosomal dominant cerebellar ataxia type I UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010848 MONDO:0019793 True spinocerebellar ataxia type 5 autosomal dominant cerebellar ataxia type III UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010849 MONDO:0017666 True palmoplantar keratoderma, Bothnian type diffuse palmoplantar keratoderma UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010851 MONDO:0015159 True Lowry-MacLean syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010851 MONDO:0015338 True Lowry-MacLean syndrome syndromic craniosynostosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010854 MONDO:0019287 True Toriello-Lacassie-Droste syndrome ectodermal dysplasia syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED -MONDO:0010855 MONDO:0015161 True short tarsus-absence of lower eyelashes syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010856 MONDO:0016894 True autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis partial deletion of the short arm of chromosome 16 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010856 MONDO:0019741 True autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis familial cystic renal disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010858 MONDO:0015159 True macrocephaly-spastic paraplegia-dysmorphism syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010858 MONDO:0019064 True macrocephaly-spastic paraplegia-dysmorphism syndrome hereditary spastic paraplegia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING -MONDO:0010860 MONDO:0019588 True autosomal recessive nonsyndromic hearing loss 3 hearing loss, autosomal recessive UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0010865 MONDO:0015159 True pseudoaminopterin syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010866 MONDO:0017198 True infantile osteopetrosis with neuroaxonal dysplasia osteopetrosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0010867 MONDO:0015161 True PARC syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010870 MONDO:0016108 True tibial muscular dystrophy autosomal dominant distal myopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010877 MONDO:0020127 True Charcot-Marie-Tooth disease type 5 hereditary peripheral neuropathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010878 MONDO:0019064 True hereditary spastic paraplegia 6 hereditary spastic paraplegia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0010879 MONDO:0002254 True CODAS syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0010879 MONDO:0015161 True CODAS syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010837 MONDO:0001741 True primary hyperparathyroidism hyperparathyroidism UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0010860 MONDO:0019588 True autosomal recessive nonsyndromic hearing loss 3 hearing loss, autosomal recessive UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0010878 MONDO:0019064 True hereditary spastic paraplegia 6 hereditary spastic paraplegia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0010879 MONDO:0002254 True CODAS syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0010880 MONDO:0019180 True telangiectasia, hereditary hemorrhagic, type 2 hereditary hemorrhagic telangiectasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0010881 MONDO:0016907 True mesomelia-synostoses syndrome partial deletion of the long arm of chromosome 8 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010881 MONDO:0018230 True mesomelia-synostoses syndrome skeletal dysplasia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010882 MONDO:0018234 True aphalangy-syndactyly-microcephaly syndrome dysostosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010882 MONDO:0019054 True aphalangy-syndactyly-microcephaly syndrome congenital limb malformation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010883 MONDO:0015161 True pectus excavatum-macrocephaly-dysplastic nails syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010886 MONDO:0016901 True 2q37 microdeletion syndrome partial deletion of the long arm of chromosome 2 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010886 MONDO:0019054 True 2q37 microdeletion syndrome congenital limb malformation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010887 MONDO:0019280 True isolated anterior cervical hypertrichosis hypertrichosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010890 MONDO:0015159 True acrocardiofacial syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010893 MONDO:0800188 True malignant hyperthermia, susceptibility to, 4 malignant hyperthermia, susceptibility to UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0010894 MONDO:0018911 True maturity-onset diabetes of the young type 3 maturity-onset diabetes of the young UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED -MONDO:0010895 MONDO:0006025 True ABCD syndrome autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0010896 MONDO:0005328 True pigment dispersion syndrome eye disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0010897 MONDO:0005090 True schizophrenia 3 schizophrenia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED -MONDO:0010898 MONDO:0005115 True autosomal dominant epilepsy with auditory features temporal lobe epilepsy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0010894 MONDO:0018911 True maturity-onset diabetes of the young type 3 maturity-onset diabetes of the young UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS MONDO:0010899 MONDO:0000030 True autosomal dominant nocturnal frontal lobe epilepsy 1 sleep-related hypermotor epilepsy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0010899 MONDO:0020300 True autosomal dominant nocturnal frontal lobe epilepsy 1 autosomal dominant nocturnal frontal lobe epilepsy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0010905 MONDO:0015993 True cone-rod dystrophy 1 cone-rod dystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0010907 MONDO:0017350 True familial hypertryptophanemia inborn disorder of tryptophan metabolism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010908 MONDO:0004907 True loose anagen syndrome alopecia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0010905 MONDO:0015993 True cone-rod dystrophy 1 cone-rod dystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS MONDO:0010909 MONDO:0015797 True UV-sensitive syndrome 1 UV-sensitive syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0010912 MONDO:0007614 True fibrosis of extraocular muscles, congenital, 3A, with or without extraocular involvement congenital fibrosis of extraocular muscles UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0010914 MONDO:0015515 True carnitine palmitoyl transferase II deficiency, severe infantile form carnitine palmitoyltransferase II deficiency UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010915 MONDO:0019587 True autosomal dominant nonsyndromic hearing loss 4A autosomal dominant nonsyndromic hearing loss UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0010916 MONDO:0004691 True polycystic kidney disease 3 with or without polycystic liver disease autosomal dominant polycystic kidney disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0010920 MONDO:0019755 True microtia developmental defect during embryogenesis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010922 MONDO:0004907 True Satoyoshi syndrome alopecia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010922 MONDO:0019852 True Satoyoshi syndrome inherited primary ovarian failure UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING -MONDO:0010924 MONDO:0016001 True D-2-hydroxyglutaric aciduria 2-hydroxyglutaric aciduria UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0010925 MONDO:0015161 True velo-facial-skeletal syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010926 MONDO:0018458 True familial hypocalciuric hypercalcemia 3 familial hypocalciuric hypercalcemia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0010930 MONDO:0015161 True anophthalmia plus syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010933 MONDO:0019588 True autosomal recessive nonsyndromic hearing loss 4 hearing loss, autosomal recessive UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0010912 MONDO:0007614 True fibrosis of extraocular muscles, congenital, 3A, with or without extraocular involvement congenital fibrosis of extraocular muscles UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0010913 MONDO:0006322 True Caroli disease non-neoplastic bile duct disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010915 MONDO:0019587 True autosomal dominant nonsyndromic hearing loss 4A autosomal dominant nonsyndromic hearing loss UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0010926 MONDO:0018458 True familial hypocalciuric hypercalcemia 3 familial hypocalciuric hypercalcemia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0010931 MONDO:0019642 True vitamin D-dependent rickets, type 2B vitamin D-dependent rickets, type 2 UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010933 MONDO:0019588 True autosomal recessive nonsyndromic hearing loss 4 hearing loss, autosomal recessive UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS MONDO:0010936 MONDO:0005144 True frontotemporal dementia and/or amyotrophic lateral sclerosis 7 familial amyotrophic lateral sclerosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0010938 MONDO:0031520 True T-B+ severe combined immunodeficiency due to JAK3 deficiency familial severe combined immunodeficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0010938 MONDO:0044200 True T-B+ severe combined immunodeficiency due to JAK3 deficiency T-B+ severe combined immunodeficiency UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010939 MONDO:0700225 True low phospholipid associated cholelithiasis hereditary gallbladder disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0010945 MONDO:0019200 True retinitis pigmentosa 17 retinitis pigmentosa UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0010946 MONDO:0024573 True hypertrophic cardiomyopathy 6 familial hypertrophic cardiomyopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0010949 MONDO:0018993 True Charcot-Marie-Tooth disease type 2B Charcot-Marie-Tooth disease type 2 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0010945 MONDO:0019200 True retinitis pigmentosa 17 retinitis pigmentosa UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0010946 MONDO:0024573 True hypertrophic cardiomyopathy 6 familial hypertrophic cardiomyopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS MONDO:0010951 MONDO:0016333 True dilated cardiomyopathy 1B familial dilated cardiomyopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0010952 MONDO:0003847 True hereditary hyperferritinemia with congenital cataracts hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0010953 MONDO:0019391 True Fanconi anemia complementation group E Fanconi anemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0010953 MONDO:0019391 True Fanconi anemia complementation group E Fanconi anemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS MONDO:0010958 MONDO:0019171 True cardiac arrhythmia, ankyrin-B-related familial long QT syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0010959 MONDO:0015161 True van den Ende-Gupta syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010959 MONDO:0015168 True van den Ende-Gupta syndrome arthrogryposis multiplex congenita UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS -MONDO:0010961 MONDO:0020075 True obesity due to prohormone convertase I deficiency hereditary non-syndromic obesity UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010962 MONDO:0017666 True diffuse nonepidermolytic palmoplantar keratoderma diffuse palmoplantar keratoderma UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010963 MONDO:0019587 True autosomal dominant nonsyndromic hearing loss 6 autosomal dominant nonsyndromic hearing loss UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0010964 MONDO:0015627 True epiphyseal dysplasia, multiple, 3 multiple epiphyseal dysplasia due to collagen 9 anomaly UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0010965 MONDO:0019588 True autosomal recessive nonsyndromic hearing loss 6 hearing loss, autosomal recessive UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0010966 MONDO:0019648 True achondrogenesis type IB achondrogenesis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0010967 MONDO:0019588 True autosomal recessive nonsyndromic hearing loss 7 hearing loss, autosomal recessive UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0010969 MONDO:0015993 True cone-rod dystrophy 5 cone-rod dystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0010970 MONDO:0003847 True cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0010973 MONDO:0019587 True autosomal dominant nonsyndromic hearing loss 5 autosomal dominant nonsyndromic hearing loss UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0010976 MONDO:0017610 True epidermolysis bullosa simplex 1D, generalized, intermediate or severe, autosomal recessive epidermolysis bullosa simplex UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0010977 MONDO:0016199 True Brody myopathy qualitative or quantitative defects of protein SERCA1 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010979 MONDO:0000426 True Timothy syndrome autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0010979 MONDO:0019171 True Timothy syndrome familial long QT syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING -MONDO:0010981 MONDO:0015161 True absent tibia-polydactyly-arachnoid cyst syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010981 MONDO:0018234 True absent tibia-polydactyly-arachnoid cyst syndrome dysostosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010981 MONDO:0019054 True absent tibia-polydactyly-arachnoid cyst syndrome congenital limb malformation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010983 MONDO:0016058 True dystonia 9 paroxysmal dystonia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010984 MONDO:0010168 True Usher syndrome type 1D Usher syndrome type 1 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0010985 MONDO:0000160 True epilepsy, familial adult myoclonic, 1 epilepsy, familial adult myoclonic UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0010986 MONDO:0019588 True autosomal recessive nonsyndromic hearing loss 9 hearing loss, autosomal recessive UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0010963 MONDO:0019587 True autosomal dominant nonsyndromic hearing loss 6 autosomal dominant nonsyndromic hearing loss UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0010965 MONDO:0019588 True autosomal recessive nonsyndromic hearing loss 6 hearing loss, autosomal recessive UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0010966 MONDO:0019648 True achondrogenesis type IB achondrogenesis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0010967 MONDO:0019588 True autosomal recessive nonsyndromic hearing loss 7 hearing loss, autosomal recessive UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0010969 MONDO:0015993 True cone-rod dystrophy 5 cone-rod dystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0010973 MONDO:0019587 True autosomal dominant nonsyndromic hearing loss 5 autosomal dominant nonsyndromic hearing loss UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0010976 MONDO:0017610 True epidermolysis bullosa simplex 1D, generalized, intermediate or severe, autosomal recessive epidermolysis bullosa simplex UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0010985 MONDO:0000160 True epilepsy, familial adult myoclonic, 1 epilepsy, familial adult myoclonic UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0010986 MONDO:0019588 True autosomal recessive nonsyndromic hearing loss 9 hearing loss, autosomal recessive UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS MONDO:0010986 MONDO:0021944 True autosomal recessive nonsyndromic hearing loss 9 auditory neuropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0010987 MONDO:0019588 True autosomal recessive nonsyndromic hearing loss 8 hearing loss, autosomal recessive UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0010989 MONDO:0017771 True Mayer-Rokitansky-Küster-Hauser syndrome type 2 Mayer-Rokitansky-Kuster-Hauser syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0010992 MONDO:0002254 True Ayme-Gripp syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0010992 MONDO:0003847 True Ayme-Gripp syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0010993 MONDO:0015159 True Harrod syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010995 MONDO:0019011 True Charcot-Marie-Tooth disease type 1C Charcot-Marie-Tooth disease type 1 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0010987 MONDO:0019588 True autosomal recessive nonsyndromic hearing loss 8 hearing loss, autosomal recessive UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS MONDO:0010996 MONDO:0019180 True hereditary hemorrhagic telangiectasia type 3 hereditary hemorrhagic telangiectasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0010997 MONDO:0019037 True supranuclear palsy, progressive, 1 progressive supranuclear palsy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010997 MONDO:0024237 True supranuclear palsy, progressive, 1 inherited neurodegenerative disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010998 MONDO:0005500 True ALG3-congenital disorder of glycosylation congenital disorder of glycosylation type I UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0010998 MONDO:0017740 True ALG3-congenital disorder of glycosylation disorder of protein N-glycosylation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010999 MONDO:0015159 True fallot complex-intellectual disability-growth delay syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011001 MONDO:0015263 True Brugada syndrome 1 Brugada syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0010998 MONDO:0005500 True ALG3-congenital disorder of glycosylation congenital disorder of glycosylation type I UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0011001 MONDO:0015263 True Brugada syndrome 1 Brugada syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS MONDO:0011002 MONDO:0015626 True neuropathy, hereditary motor and sensory, type 6A Charcot-Marie-Tooth disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0011003 MONDO:0016333 True dilated cardiomyopathy 1E familial dilated cardiomyopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0011004 MONDO:0015148 True lissencephaly type 3-metacarpal bone dysplasia syndrome lissencephaly type 3 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011007 MONDO:0015161 True diaphragmatic defect-limb deficiency-skull defect syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011008 MONDO:0015161 True cleft lip/palate-intestinal malrotation-cardiopathy syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011010 MONDO:0015161 True Matthew-Wood syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011010 MONDO:0015929 True Matthew-Wood syndrome thoracic malformation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011010 MONDO:0016073 True Matthew-Wood syndrome syndromic microphthalmia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0011011 MONDO:0019054 True skeletal dysplasia-epilepsy-short stature syndrome congenital limb malformation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011012 MONDO:0006507 True African iron overload hereditary hemochromatosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0011013 MONDO:0018543 True autosomal dominant hypocalcemia 1 autosomal dominant hypocalcemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0011014 MONDO:0005933 True pleuropulmonary blastoma pulmonary blastoma UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0011014 MONDO:0006517 True pleuropulmonary blastoma childhood malignant neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011017 MONDO:0016587 True Naxos disease arrhythmogenic right ventricular cardiomyopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0011019 MONDO:0004907 True alopecia-intellectual disability-hypergonadotropic hypogonadism syndrome alopecia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011021 MONDO:0000858 True neuronal intestinal dysplasia, type B neuronal intestinal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0011022 MONDO:0002254 True Potocki-Shaffer syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0011022 MONDO:0016893 True Potocki-Shaffer syndrome partial deletion of the short arm of chromosome 11 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011023 MONDO:0015185 True hereditary mixed polyposis syndrome intestinal polyposis syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011025 MONDO:0020043 True Cayman type cerebellar ataxia autosomal recessive congenital cerebellar ataxia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011026 MONDO:0017265 True autosomal recessive congenital ichthyosis 4A autosomal recessive congenital ichthyosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0011028 MONDO:0015152 True autosomal recessive limb-girdle muscular dystrophy type 2F autosomal recessive limb-girdle muscular dystrophy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0011028 MONDO:0016144 True autosomal recessive limb-girdle muscular dystrophy type 2F qualitative or quantitative defects of delta-sarcoglycan UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011028 MONDO:0016333 True autosomal recessive limb-girdle muscular dystrophy type 2F familial dilated cardiomyopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING -MONDO:0011031 MONDO:0019587 True autosomal dominant nonsyndromic hearing loss 10 autosomal dominant nonsyndromic hearing loss UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0011032 MONDO:0019587 True autosomal dominant nonsyndromic hearing loss 11 autosomal dominant nonsyndromic hearing loss UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0011035 MONDO:0019755 True neurofibromatosis-Noonan syndrome developmental defect during embryogenesis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011035 MONDO:0021060 True neurofibromatosis-Noonan syndrome RASopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0011038 MONDO:0019792 True cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome autosomal dominant cerebellar ataxia type I UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011041 MONDO:0019287 True ectodermal dysplasia with natal teeth, Turnpenny type ectodermal dysplasia syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING -MONDO:0011045 MONDO:0015159 True MMEP syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011045 MONDO:0016073 True MMEP syndrome syndromic microphthalmia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0011048 MONDO:0015159 True epilepsy-microcephaly-skeletal dysplasia syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011049 MONDO:0015159 True Fine-Lubinsky syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011050 MONDO:0015161 True microcephaly-cardiac defect-lung malsegmentation syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011051 MONDO:0016357 True lethal short-limb skeletal dysplasia, Al Gazali type dysplastic cortical hyperostosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011053 MONDO:0015159 True intellectual disability-sparse hair-brachydactyly syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011054 MONDO:0018234 True autosomal recessive amelia dysostosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011054 MONDO:0019054 True autosomal recessive amelia congenital limb malformation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011055 MONDO:0016892 True distal monosomy 10p partial deletion of the short arm of chromosome 10 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011010 MONDO:0016073 True Matthew-Wood syndrome syndromic microphthalmia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0011012 MONDO:0006507 True African iron overload hereditary hemochromatosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0011013 MONDO:0018543 True autosomal dominant hypocalcemia 1 autosomal dominant hypocalcemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0011022 MONDO:0002254 True Potocki-Shaffer syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0011026 MONDO:0017265 True autosomal recessive congenital ichthyosis 4A autosomal recessive congenital ichthyosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0011028 MONDO:0015152 True autosomal recessive limb-girdle muscular dystrophy type 2F autosomal recessive limb-girdle muscular dystrophy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0011031 MONDO:0019587 True autosomal dominant nonsyndromic hearing loss 10 autosomal dominant nonsyndromic hearing loss UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0011032 MONDO:0019587 True autosomal dominant nonsyndromic hearing loss 11 autosomal dominant nonsyndromic hearing loss UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0011045 MONDO:0016073 True MMEP syndrome syndromic microphthalmia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS MONDO:0011056 MONDO:0003321 True Wilms tumor 4 hereditary Wilms tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0011057 MONDO:0005560 True cerebrovascular disorder brain disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0011058 MONDO:0019587 True autosomal dominant nonsyndromic hearing loss 9 autosomal dominant nonsyndromic hearing loss UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0011059 MONDO:0015338 True holoprosencephaly-craniosynostosis syndrome syndromic craniosynostosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011062 MONDO:0020022 True aprosencephaly cerebellar dysgenesis central nervous system malformation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011063 MONDO:0019287 True hidrotic ectodermal dysplasia, Christianson-Fourie type ectodermal dysplasia syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING -MONDO:0011066 MONDO:0018995 True Charcot-Marie-Tooth disease type 4B1 Charcot-Marie-Tooth disease type 4 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0011067 MONDO:0019588 True autosomal recessive nonsyndromic hearing loss 12 hearing loss, autosomal recessive UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0011070 MONDO:0017813 True van Maldergem syndrome 1 van Maldergem syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0011071 MONDO:0015356 True hereditary thrombocytopenia and hematologic cancer predisposition syndrome hereditary neoplastic syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011071 MONDO:0021181 True hereditary thrombocytopenia and hematologic cancer predisposition syndrome inherited blood coagulation disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011074 MONDO:0019587 True autosomal dominant nonsyndromic hearing loss 7 autosomal dominant nonsyndromic hearing loss UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0011075 MONDO:0019200 True retinitis pigmentosa 18 retinitis pigmentosa UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0011076 MONDO:0016187 True myofibrillar myopathy 1 qualitative or quantitative defects of desmin UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011076 MONDO:0016333 True myofibrillar myopathy 1 familial dilated cardiomyopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING -MONDO:0011076 MONDO:0018943 True myofibrillar myopathy 1 myofibrillar myopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0011076 MONDO:0019056 True myofibrillar myopathy 1 neuromuscular disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0011079 MONDO:0018230 True rhizomelic dysplasia, Patterson-Lowry type skeletal dysplasia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011081 MONDO:0015161 True dislocation of the hip-dysmorphism syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011082 MONDO:0016643 True oculoauriculofrontonasal syndrome frontonasal dysplasia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING -MONDO:0011083 MONDO:0019287 True trichodental syndrome ectodermal dysplasia syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING -MONDO:0011085 MONDO:0018995 True Charcot-Marie-Tooth disease type 4D Charcot-Marie-Tooth disease type 4 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0011086 MONDO:0017855 True severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive T-B- severe combined immunodeficiency UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011086 MONDO:0031520 True severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive familial severe combined immunodeficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0011087 MONDO:0005265 True inflammatory bowel disease 2 inflammatory bowel disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0011091 MONDO:0018993 True Charcot-Marie-Tooth disease type 2D Charcot-Marie-Tooth disease type 2 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0011093 MONDO:0019249 True mucopolysaccharidosis type 9 mucopolysaccharidosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0011057 MONDO:0005560 True cerebrovascular disorder brain disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0011058 MONDO:0019587 True autosomal dominant nonsyndromic hearing loss 9 autosomal dominant nonsyndromic hearing loss UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0011067 MONDO:0019588 True autosomal recessive nonsyndromic hearing loss 12 hearing loss, autosomal recessive UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0011070 MONDO:0017813 True van Maldergem syndrome 1 van Maldergem syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0011074 MONDO:0019587 True autosomal dominant nonsyndromic hearing loss 7 autosomal dominant nonsyndromic hearing loss UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0011075 MONDO:0019200 True retinitis pigmentosa 18 retinitis pigmentosa UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0011076 MONDO:0018943 True myofibrillar myopathy 1 myofibrillar myopathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0011087 MONDO:0005265 True inflammatory bowel disease 2 inflammatory bowel disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0011093 MONDO:0019249 True mucopolysaccharidosis type 9 mucopolysaccharidosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS MONDO:0011094 MONDO:0018901 True dilated cardiomyopathy 1C left ventricular noncompaction UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS MONDO:0011094 MONDO:0024573 True dilated cardiomyopathy 1C familial hypertrophic cardiomyopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS MONDO:0011095 MONDO:0018901 True dilated cardiomyopathy 1D left ventricular noncompaction UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0011096 MONDO:0016462 True autosomal agammaglobulinemia isolated agammaglobulinemia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011097 MONDO:0019187 True Axenfeld-Rieger syndrome type 2 Axenfeld-Rieger syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0011099 MONDO:0006025 True human HOXA1 syndromes autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0011102 MONDO:0019587 True autosomal dominant nonsyndromic hearing loss 12 autosomal dominant nonsyndromic hearing loss UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0011103 MONDO:0019587 True autosomal dominant nonsyndromic hearing loss 3A autosomal dominant nonsyndromic hearing loss UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0011104 MONDO:0005129 True cataract 3 multiple types cataract UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0011107 MONDO:0003037 True congenital hypotrichosis with juvenile macular dystrophy hypotrichosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED -MONDO:0011107 MONDO:0019287 True congenital hypotrichosis with juvenile macular dystrophy ectodermal dysplasia syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS -MONDO:0011109 MONDO:0016648 True multiple epiphyseal dysplasia, Lowry type multiple epiphyseal dysplasia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0011097 MONDO:0019187 True Axenfeld-Rieger syndrome type 2 Axenfeld-Rieger syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0011102 MONDO:0019587 True autosomal dominant nonsyndromic hearing loss 12 autosomal dominant nonsyndromic hearing loss UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0011103 MONDO:0019587 True autosomal dominant nonsyndromic hearing loss 3A autosomal dominant nonsyndromic hearing loss UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0011104 MONDO:0005129 True cataract 3 multiple types cataract UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS MONDO:0011112 MONDO:0003321 True Wilms tumor 5 hereditary Wilms tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0011113 MONDO:0018995 True Charcot-Marie-Tooth disease type 4C Charcot-Marie-Tooth disease type 4 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0011114 MONDO:0011512 True familial multiple trichoepithelioma Brooke-Spiegler syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011118 MONDO:0019460 True bilineal acute myeloid leukemia acute leukemia of ambiguous lineage UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011119 MONDO:0019503 True iridogoniodysgenesis anterior segment dysgenesis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0011121 MONDO:0000448 True paragangliomas 2 paraganglioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0011122 MONDO:0003916 True obesity disorder overnutrition UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0011125 MONDO:0002470 True trichothiodystrophy 1, photosensitive photosensitive trichothiodystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0011128 MONDO:0019942 True Sheldon-hall syndrome distal arthrogryposis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0011132 MONDO:0015974 True T-cell immunodeficiency, congenital alopecia, and nail dystrophy severe combined immunodeficiency UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0011133 MONDO:0019290 True deaf blind hypopigmentation syndrome, Yemenite type hypopigmentation of the skin UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011134 MONDO:0015338 True Curry-Jones syndrome syndromic craniosynostosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011136 MONDO:0000009 True Quebec platelet disorder inherited bleeding disorder, platelet-type UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0011136 MONDO:0020117 True Quebec platelet disorder alpha granule disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011137 MONDO:0019200 True retinitis pigmentosa 19 retinitis pigmentosa UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0011142 MONDO:0015286 True Ehlers-Danlos syndrome, musculocontractural type congenital disorder of glycosylation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011142 MONDO:0015327 True Ehlers-Danlos syndrome, musculocontractural type developmental anomaly of metabolic origin UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011142 MONDO:0019942 True Ehlers-Danlos syndrome, musculocontractural type distal arthrogryposis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011142 MONDO:0020066 True Ehlers-Danlos syndrome, musculocontractural type Ehlers-Danlos syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011143 MONDO:0015993 True cone-rod dystrophy 6 cone-rod dystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0011144 MONDO:0015674 True ceroid lipofuscinosis, neuronal, 6A late infantile neuronal ceroid lipofuscinosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011145 MONDO:0015159 True colobomatous microphthalmia - obesity - hypogenitalism - intellectual disability syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011146 MONDO:0016933 True tetrasomy 12p partial trisomy/tetrasomy of the short arm of chromosome 12 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011146 MONDO:0019716 True tetrasomy 12p overgrowth syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011147 MONDO:0016880 True chromosome 18q deletion syndrome partial deletion of chromosome 18 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011150 MONDO:0019303 True acroosteolysis-keloid-like lesions-premature aging syndrome premature aging syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011151 MONDO:0019516 True exudative vitreoretinopathy 4 exudative vitreoretinopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0011154 MONDO:0018237 True acrofacial dysostosis, Palagonia type acrofacial dysostosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0011156 MONDO:0015762 True progressive familial intrahepatic cholestasis type 2 progressive familial intrahepatic cholestasis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0011157 MONDO:0020022 True Gomez-Lopez-Hernandez syndrome central nervous system malformation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011159 MONDO:0019587 True autosomal dominant nonsyndromic hearing loss 13 autosomal dominant nonsyndromic hearing loss UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0011160 MONDO:0019588 True autosomal recessive nonsyndromic hearing loss 15 hearing loss, autosomal recessive UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0011136 MONDO:0000009 True Quebec platelet disorder inherited bleeding disorder, platelet-type UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0011137 MONDO:0019200 True retinitis pigmentosa 19 retinitis pigmentosa UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0011143 MONDO:0015993 True cone-rod dystrophy 6 cone-rod dystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0011146 MONDO:0002254 True tetrasomy 12p syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011147 MONDO:0002254 True chromosome 18q deletion syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0011156 MONDO:0015762 True progressive familial intrahepatic cholestasis type 2 progressive familial intrahepatic cholestasis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0011159 MONDO:0019587 True autosomal dominant nonsyndromic hearing loss 13 autosomal dominant nonsyndromic hearing loss UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0011160 MONDO:0019588 True autosomal recessive nonsyndromic hearing loss 15 hearing loss, autosomal recessive UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS MONDO:0011163 MONDO:0800188 True malignant hyperthermia, susceptibility to, 5 malignant hyperthermia, susceptibility to UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0011164 MONDO:0800188 True malignant hyperthermia, susceptibility to, 6 malignant hyperthermia, susceptibility to UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0011165 MONDO:0007671 True glomerulopathy with fibronectin deposits 2 fibronectin glomerulopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0011166 MONDO:0019175 True lymphedema-atrial septal defects-facial changes syndrome primary lymphedema UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011169 MONDO:0019268 True keratosis linearis-ichthyosis congenita-sclerosing keratoderma syndrome epidermal disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011170 MONDO:0015152 True autosomal recessive limb-girdle muscular dystrophy type 2G autosomal recessive limb-girdle muscular dystrophy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0011170 MONDO:0016192 True autosomal recessive limb-girdle muscular dystrophy type 2G qualitative or quantitative defects of telethonin UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011171 MONDO:0019287 True odonto-tricho-ungual-digito-palmar syndrome ectodermal dysplasia syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0011170 MONDO:0015152 True autosomal recessive limb-girdle muscular dystrophy type 2G autosomal recessive limb-girdle muscular dystrophy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS MONDO:0011173 MONDO:0019111 True thrombocythemia 2 familial thrombocytosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0011175 MONDO:0100339 True Friedreich ataxia 2 Friedreich ataxia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0011177 MONDO:0019071 True ectodermal dysplasia 4, hair/nail type pure hair and nail ectodermal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0011178 MONDO:0015427 True infantile convulsions and choreoathetosis paroxysmal dyskinesia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011178 MONDO:0015642 True infantile convulsions and choreoathetosis benign partial infantile seizures UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011181 MONDO:0007614 True fibrosis of extraocular muscles, congenital, 2 congenital fibrosis of extraocular muscles UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0011183 MONDO:0005382 True Paget disease of bone 2, early-onset bone Paget disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0011184 MONDO:0003847 True childhood apraxia of speech hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0011184 MONDO:0016226 True childhood apraxia of speech specific language disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011185 MONDO:0000764 True Thiel-Behnke corneal dystrophy epithelial-stromal TGFBI dystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0011185 MONDO:0020212 True Thiel-Behnke corneal dystrophy superficial corneal dystrophy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011186 MONDO:0010168 True Usher syndrome type 1F Usher syndrome type 1 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0011178 MONDO:0002254 True infantile convulsions and choreoathetosis syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011181 MONDO:0007614 True fibrosis of extraocular muscles, congenital, 2 congenital fibrosis of extraocular muscles UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0011183 MONDO:0005382 True Paget disease of bone 2, early-onset bone Paget disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS MONDO:0011188 MONDO:0016342 True arrhythmogenic right ventricular dysplasia 3 familial isolated arrhythmogenic right ventricular dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0011189 MONDO:0016342 True arrhythmogenic right ventricular dysplasia 4 familial isolated arrhythmogenic right ventricular dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0011190 MONDO:0019005 True nephronophthisis 2 nephronophthisis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0011192 MONDO:0019588 True autosomal recessive nonsyndromic hearing loss 18A hearing loss, autosomal recessive UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0011193 MONDO:0015993 True cone dystrophy 3 cone-rod dystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0011195 MONDO:0010168 True Usher syndrome type 1E Usher syndrome type 1 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0011198 MONDO:0100510 True spondyloepimetaphyseal dysplasia, Missouri type spondyloepimetaphyseal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0011200 MONDO:0000477 True torsion dystonia 7 focal dystonia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0011190 MONDO:0019005 True nephronophthisis 2 nephronophthisis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0011192 MONDO:0019588 True autosomal recessive nonsyndromic hearing loss 18A hearing loss, autosomal recessive UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0011193 MONDO:0015993 True cone dystrophy 3 cone-rod dystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS MONDO:0011200 MONDO:0044807 True torsion dystonia 7 inherited dystonia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0011201 MONDO:0003233 True tremor, hereditary essential, 2 essential tremor UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0011208 MONDO:0019293 True malignant atrophic papulosis skin vascular disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011211 MONDO:0016763 True axial spondylometaphyseal dysplasia spondylometaphyseal dysplasia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0011213 MONDO:0003847 True Pierpont syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0011213 MONDO:0015159 True Pierpont syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011214 MONDO:0015762 True progressive familial intrahepatic cholestasis type 3 progressive familial intrahepatic cholestasis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0011216 MONDO:0019257 True hemochromatosis type 2A hemochromatosis type 2 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0011217 MONDO:0019702 True desmosterolosis neonatal osteosclerotic dysplasia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011218 MONDO:0017265 True autosomal recessive congenital ichthyosis 11 autosomal recessive congenital ichthyosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0011219 MONDO:0019287 True Fried's tooth and nail syndrome ectodermal dysplasia syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0011201 MONDO:0003233 True tremor, hereditary essential, 2 essential tremor UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0011211 MONDO:0016763 True axial spondylometaphyseal dysplasia spondylometaphyseal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0011214 MONDO:0015762 True progressive familial intrahepatic cholestasis type 3 progressive familial intrahepatic cholestasis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0011218 MONDO:0017265 True autosomal recessive congenital ichthyosis 11 autosomal recessive congenital ichthyosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0011219 MONDO:0019287 True Fried's tooth and nail syndrome ectodermal dysplasia syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS MONDO:0011223 MONDO:0005144 True amyotrophic lateral sclerosis type 4 familial amyotrophic lateral sclerosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0011224 MONDO:0020129 True monomelic amyotrophy acquired motor neuron disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011225 MONDO:0017855 True severe combined immunodeficiency due to DCLRE1C deficiency T-B- severe combined immunodeficiency UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011225 MONDO:0031520 True severe combined immunodeficiency due to DCLRE1C deficiency familial severe combined immunodeficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0011226 MONDO:0019587 True autosomal dominant nonsyndromic hearing loss 15 autosomal dominant nonsyndromic hearing loss UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0011227 MONDO:0015161 True short stature-auditory canal atresia-mandibular hypoplasia-skeletal anomalies syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011227 MONDO:0018751 True short stature-auditory canal atresia-mandibular hypoplasia-skeletal anomalies syndrome hereditary otorhinolaryngologic disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011231 MONDO:0000032 True febrile seizures, familial, 2 febrile seizures, familial UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0011232 MONDO:0000700 True migraine, familial hemiplegic, 2 familial hemiplegic migraine UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0011233 MONDO:0019187 True Axenfeld-Rieger syndrome type 3 Axenfeld-Rieger syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0011226 MONDO:0019587 True autosomal dominant nonsyndromic hearing loss 15 autosomal dominant nonsyndromic hearing loss UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0011232 MONDO:0000700 True migraine, familial hemiplegic, 2 familial hemiplegic migraine UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0011233 MONDO:0019187 True Axenfeld-Rieger syndrome type 3 Axenfeld-Rieger syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS MONDO:0011234 MONDO:0000107 True auriculocondylar syndrome 1 auriculocondylar syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0011235 MONDO:0018234 True pelvic dysplasia-arthrogryposis of lower limbs syndrome dysostosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011236 MONDO:0015624 True hyperinsulinism due to glucokinase deficiency diazoxide-sensitive diffuse hyperinsulinism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011236 MONDO:0017688 True hyperinsulinism due to glucokinase deficiency disorder of glycolysis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011243 MONDO:0015161 True grange syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011244 MONDO:0002254 True Marshall-Smith syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0011244 MONDO:0018230 True Marshall-Smith syndrome skeletal dysplasia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011244 MONDO:0019716 True Marshall-Smith syndrome overgrowth syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011246 MONDO:0018117 True megaconial type congenital muscular dystrophy disorder of phospholipids, sphingolipids and fatty acids biosynthesis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011246 MONDO:0019950 True megaconial type congenital muscular dystrophy congenital muscular dystrophy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0011248 MONDO:0016911 True distal monosomy 13q partial deletion of the long arm of chromosome 13 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011253 MONDO:0015338 True craniomicromelic syndrome syndromic craniosynostosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011255 MONDO:0015483 True mandibulofacial dysostosis-macroblepharon-macrostomia syndrome mandibulofacial dysostosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011255 MONDO:0018234 True mandibulofacial dysostosis-macroblepharon-macrostomia syndrome dysostosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011257 MONDO:0005500 True MPI-congenital disorder of glycosylation congenital disorder of glycosylation type I UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0011257 MONDO:0017740 True MPI-congenital disorder of glycosylation disorder of protein N-glycosylation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011259 MONDO:0019200 True retinitis pigmentosa 22 retinitis pigmentosa UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0011262 MONDO:0015161 True camptodactyly, myopia, and fibrosis of the medial rectus muscle of eye multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011262 MONDO:0018234 True camptodactyly, myopia, and fibrosis of the medial rectus muscle of eye dysostosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011264 MONDO:0000476 True torsion dystonia 6 generalized dystonia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0011257 MONDO:0005500 True MPI-congenital disorder of glycosylation congenital disorder of glycosylation type I UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0011259 MONDO:0019200 True retinitis pigmentosa 22 retinitis pigmentosa UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS MONDO:0011265 MONDO:0005486 True tooth agenesis, selective, 2 tooth agenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0011266 MONDO:0016107 True myotonic dystrophy type 2 myotonic dystrophy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0011269 MONDO:0005083 True psoriasis 2 psoriasis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0011272 MONDO:0019200 True retinitis pigmentosa 25 retinitis pigmentosa UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0011273 MONDO:0019289 True H syndrome hyperpigmentation of the skin UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011274 MONDO:0015338 True Muenke syndrome syndromic craniosynostosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011275 MONDO:0019696 True acromesomelic dysplasia 1, Maroteaux type acromesomelic dysplasia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0011276 MONDO:0000358 True orofacial cleft 2 orofacial cleft UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0011279 MONDO:0019588 True autosomal recessive nonsyndromic hearing loss 17 hearing loss, autosomal recessive UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0011281 MONDO:0018940 True congenital myasthenic syndrome 5 congenital myasthenic syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0011283 MONDO:0018158 True mitochondrial DNA depletion syndrome 1 mitochondrial DNA depletion syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0011284 MONDO:0004892 True astigmatism refractive error UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0011285 MONDO:0005150 True age related macular degeneration 1 age-related macular degeneration UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0011286 MONDO:0019588 True autosomal recessive nonsyndromic hearing loss 13 hearing loss, autosomal recessive UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0011287 MONDO:0015338 True craniosynostosis-anal anomalies-porokeratosis syndrome syndromic craniosynostosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011291 MONDO:0005500 True ALG6-congenital disorder of glycosylation 1C congenital disorder of glycosylation type I UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0011291 MONDO:0017740 True ALG6-congenital disorder of glycosylation 1C disorder of protein N-glycosylation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011266 MONDO:0016107 True myotonic dystrophy type 2 myotonic dystrophy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0011269 MONDO:0005083 True psoriasis 2 psoriasis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0011272 MONDO:0019200 True retinitis pigmentosa 25 retinitis pigmentosa UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0011275 MONDO:0019696 True acromesomelic dysplasia 1, Maroteaux type acromesomelic dysplasia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0011276 MONDO:0000358 True orofacial cleft 2 orofacial cleft UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0011279 MONDO:0019588 True autosomal recessive nonsyndromic hearing loss 17 hearing loss, autosomal recessive UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0011281 MONDO:0018940 True congenital myasthenic syndrome 5 congenital myasthenic syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0011283 MONDO:0018158 True mitochondrial DNA depletion syndrome 1 mitochondrial DNA depletion syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0011285 MONDO:0005150 True age related macular degeneration 1 age-related macular degeneration UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0011286 MONDO:0019588 True autosomal recessive nonsyndromic hearing loss 13 hearing loss, autosomal recessive UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0011291 MONDO:0005500 True ALG6-congenital disorder of glycosylation 1C congenital disorder of glycosylation type I UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS MONDO:0011292 MONDO:0004980 True dermatitis, atopic atopic eczema UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0011294 MONDO:0005090 True schizophrenia 5 schizophrenia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED -MONDO:0011295 MONDO:0005090 True schizophrenia 7 schizophrenia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED -MONDO:0011296 MONDO:0018921 True Meckel syndrome, type 2 Meckel syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0011296 MONDO:0018921 True Meckel syndrome, type 2 Meckel syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS MONDO:0011297 MONDO:0000030 True autosomal dominant nocturnal frontal lobe epilepsy 2 sleep-related hypermotor epilepsy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0011297 MONDO:0020300 True autosomal dominant nocturnal frontal lobe epilepsy 2 autosomal dominant nocturnal frontal lobe epilepsy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0011298 MONDO:0005090 True schizophrenia 8 schizophrenia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED -MONDO:0011299 MONDO:0005429 True Huntington disease-like 1 prion disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0011299 MONDO:0024237 True Huntington disease-like 1 inherited neurodegenerative disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011300 MONDO:0001384 True myopia 3, autosomal dominant myopia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0011301 MONDO:0019992 True pseudohypoparathyroidism type 1B pseudohypoparathyroidism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0011303 MONDO:0005363 True focal segmental glomerulosclerosis 1 inherited focal segmental glomerulosclerosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0011304 MONDO:0031037 True cerebral cavernous malformation 2 famililal cerebral cavernous malformations UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0011305 MONDO:0031037 True cerebral cavernous malformation 3 famililal cerebral cavernous malformations UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0011307 MONDO:0005090 True schizophrenia 2 schizophrenia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED -MONDO:0011308 MONDO:0003847 True GRACILE syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0011309 MONDO:0003847 True familial gestational hyperthyroidism hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0011309 MONDO:0004425 True familial gestational hyperthyroidism hyperthyroidism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0011313 MONDO:0019375 True megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0011325 MONDO:0019391 True Fanconi anemia complementation group F Fanconi anemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0011327 MONDO:0024237 True neuronal intranuclear inclusion disease inherited neurodegenerative disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011330 MONDO:0019794 True spinocerebellar ataxia type 10 autosomal dominant cerebellar ataxia type IV UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011331 MONDO:0002037 True congenital chylothorax pleural disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0011331 MONDO:0017015 True congenital chylothorax primary interstitial lung disease specific to childhood UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011334 MONDO:0019287 True limb-mammary syndrome ectodermal dysplasia syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING -MONDO:0011335 MONDO:0000426 True spondyloepimetaphyseal dysplasia with multiple dislocations autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0011335 MONDO:0019675 True spondyloepimetaphyseal dysplasia with multiple dislocations spondyloepimetaphyseal dysplasia with joint laxity UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0011325 MONDO:0019391 True Fanconi anemia complementation group F Fanconi anemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0011335 MONDO:0019675 True spondyloepimetaphyseal dysplasia with multiple dislocations spondyloepimetaphyseal dysplasia with joint laxity UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS MONDO:0011336 MONDO:0015541 True familial hemophagocytic lymphohistiocytosis 4 hereditary hemophagocytic lymphohistiocytosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0011337 MONDO:0015541 True familial hemophagocytic lymphohistiocytosis 2 hereditary hemophagocytic lymphohistiocytosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0011338 MONDO:0031520 True Omenn syndrome familial severe combined immunodeficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0011342 MONDO:0005501 True SLC35A1-congenital disorder of glycosylation congenital disorder of glycosylation type II UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0011342 MONDO:0017749 True SLC35A1-congenital disorder of glycosylation disorder of multiple glycosylation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011346 MONDO:0018106 True xanthinuria type II hereditary xanthinuria UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0011350 MONDO:0019587 True autosomal dominant nonsyndromic hearing loss 17 autosomal dominant nonsyndromic hearing loss UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0011351 MONDO:0019588 True autosomal recessive nonsyndromic hearing loss 21 hearing loss, autosomal recessive UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0011355 MONDO:0015993 True cone-rod dystrophy 7 cone-rod dystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0011359 MONDO:0016643 True acromelic frontonasal dysostosis frontonasal dysplasia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS -MONDO:0011359 MONDO:0018237 True acromelic frontonasal dysostosis acrofacial dysostosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0011360 MONDO:0019588 True autosomal recessive nonsyndromic hearing loss 14 hearing loss, autosomal recessive UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0011362 MONDO:0016106 True myopathy, myofibrillar, 9, with early respiratory failure progressive muscular dystrophy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011362 MONDO:0016112 True myopathy, myofibrillar, 9, with early respiratory failure hereditary inclusion-body myopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011364 MONDO:0019588 True autosomal recessive nonsyndromic hearing loss 16 hearing loss, autosomal recessive UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0011365 MONDO:0000734 True blepharophimosis - intellectual disability syndrome, SBBYS type Ohdo syndrome and variants UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0011365 MONDO:0002254 True blepharophimosis - intellectual disability syndrome, SBBYS type syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0011342 MONDO:0005501 True SLC35A1-congenital disorder of glycosylation congenital disorder of glycosylation type II UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0011346 MONDO:0018106 True xanthinuria type II hereditary xanthinuria UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0011350 MONDO:0019587 True autosomal dominant nonsyndromic hearing loss 17 autosomal dominant nonsyndromic hearing loss UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0011351 MONDO:0019588 True autosomal recessive nonsyndromic hearing loss 21 hearing loss, autosomal recessive UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0011355 MONDO:0015993 True cone-rod dystrophy 7 cone-rod dystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0011360 MONDO:0019588 True autosomal recessive nonsyndromic hearing loss 14 hearing loss, autosomal recessive UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0011364 MONDO:0019588 True autosomal recessive nonsyndromic hearing loss 16 hearing loss, autosomal recessive UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS MONDO:0011366 MONDO:0005040 True ovarian germ cell tumor germ cell tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0011366 MONDO:0021068 True ovarian germ cell tumor ovarian neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011369 MONDO:0005439 True hypercholesterolemia, autosomal dominant, 3 familial hypercholesterolemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0011374 MONDO:0019052 True hypercholesterolemia, familial, 4 inborn errors of metabolism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0011374 MONDO:0037748 True hypercholesterolemia, familial, 4 hyperlipoproteinemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011377 MONDO:0019171 True long QT syndrome 3 familial long QT syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0011381 MONDO:0019402 True dominant beta-thalassemia beta thalassemia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0011382 MONDO:0006025 True sickle cell anemia autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0011382 MONDO:0019050 True sickle cell anemia inherited hemoglobinopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0011383 MONDO:0017979 True autoimmune lymphoproliferative syndrome type 2A autoimmune lymphoproliferative syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0011382 MONDO:0019050 True sickle cell anemia inherited hemoglobinopathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0011383 MONDO:0017979 True autoimmune lymphoproliferative syndrome type 2A autoimmune lymphoproliferative syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0011386 MONDO:0000065 True microvascular complications of diabetes, susceptibility to, 1 microvascular complications of diabetes, susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0011389 MONDO:0019587 True autosomal dominant nonsyndromic hearing loss 16 autosomal dominant nonsyndromic hearing loss UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0011389 MONDO:0019587 True autosomal dominant nonsyndromic hearing loss 16 autosomal dominant nonsyndromic hearing loss UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS MONDO:0011390 MONDO:0005363 True focal segmental glomerulosclerosis 2 inherited focal segmental glomerulosclerosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0011391 MONDO:0019046 True megalencephalic leukoencephalopathy with subcortical cysts leukodystrophy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0011392 MONDO:0019588 True autosomal recessive nonsyndromic hearing loss 20 hearing loss, autosomal recessive UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0011393 MONDO:0019052 True hypoalphalipoproteinemia, primary, 1 inborn errors of metabolism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0011395 MONDO:0015993 True cone-rod dystrophy 3 cone-rod dystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0011396 MONDO:0017666 True loricrin keratoderma diffuse palmoplantar keratoderma UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011397 MONDO:0019792 True autosomal dominant cerebellar ataxia, deafness and narcolepsy autosomal dominant cerebellar ataxia type I UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011398 MONDO:0006543 True dystrophic epidermolysis bullosa pruriginosa epidermolysis bullosa dystrophica UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011399 MONDO:0000984 True alpha thalassemia thalassemia SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0011392 MONDO:0019588 True autosomal recessive nonsyndromic hearing loss 20 hearing loss, autosomal recessive UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0011395 MONDO:0015993 True cone-rod dystrophy 3 cone-rod dystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0011399 MONDO:0000984 True alpha thalassemia thalassemia SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0011400 MONDO:0016333 True dilated cardiomyopathy 1G familial dilated cardiomyopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0011402 MONDO:0015159 True congenital cataracts-facial dysmorphism-neuropathy syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011402 MONDO:0020046 True congenital cataracts-facial dysmorphism-neuropathy syndrome autosomal recessive degenerative and progressive cerebellar ataxia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011403 MONDO:0018901 True left ventricular noncompaction 1 left ventricular noncompaction UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0011405 MONDO:0015134 True poikiloderma with neutropenia constitutional neutropenia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011405 MONDO:0016382 True poikiloderma with neutropenia hereditary poikiloderma UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011408 MONDO:0019064 True hereditary spastic paraplegia 10 hereditary spastic paraplegia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0011412 MONDO:0020074 True familial encephalopathy with neuroserpin inclusion bodies progressive myoclonus epilepsy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS -MONDO:0011413 MONDO:0005129 True cataract 9 multiple types cataract UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0011414 MONDO:0000942 True Peters anomaly corneal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0011414 MONDO:0019503 True Peters anomaly anterior segment dysgenesis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0011415 MONDO:0018998 True Leber congenital amaurosis 3 Leber congenital amaurosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0011416 MONDO:0018214 True generalized epilepsy with febrile seizures plus, type 1 generalized epilepsy with febrile seizures plus UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0011417 MONDO:0006507 True hemochromatosis type 3 hereditary hemochromatosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0011420 MONDO:0015892 True short stature due to partial GHR deficiency growth hormone insensitivity syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011421 MONDO:0014471 True mitochondrial complex V (ATP synthase) deficiency, nuclear type 1 mitochondrial proton-transporting ATP synthase complex deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0011422 MONDO:0008369 True autosomal recessive proximal renal tubular acidosis proximal renal tubular acidosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING -MONDO:0011422 MONDO:0015962 True autosomal recessive proximal renal tubular acidosis inherited renal tubular disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011423 MONDO:0015152 True autosomal recessive limb-girdle muscular dystrophy type 2E autosomal recessive limb-girdle muscular dystrophy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0011423 MONDO:0016142 True autosomal recessive limb-girdle muscular dystrophy type 2E qualitative or quantitative defects of beta-sarcoglycan UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011423 MONDO:0016333 True autosomal recessive limb-girdle muscular dystrophy type 2E familial dilated cardiomyopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING -MONDO:0011424 MONDO:0015079 True Carney triad multiple polyglandular tumor UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011408 MONDO:0019064 True hereditary spastic paraplegia 10 hereditary spastic paraplegia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0011413 MONDO:0005129 True cataract 9 multiple types cataract UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0011414 MONDO:0019503 True Peters anomaly anterior segment dysgenesis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0011415 MONDO:0018998 True Leber congenital amaurosis 3 Leber congenital amaurosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0011416 MONDO:0018214 True generalized epilepsy with febrile seizures plus, type 1 generalized epilepsy with febrile seizures plus UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0011417 MONDO:0006507 True hemochromatosis type 3 hereditary hemochromatosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0011421 MONDO:0014471 True mitochondrial complex V (ATP synthase) deficiency, nuclear type 1 mitochondrial proton-transporting ATP synthase complex deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0011423 MONDO:0015152 True autosomal recessive limb-girdle muscular dystrophy type 2E autosomal recessive limb-girdle muscular dystrophy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0011424 MONDO:0021058 True Carney triad neoplastic syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011425 MONDO:0016333 True dilated cardiomyopathy 1H familial dilated cardiomyopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0011426 MONDO:0016624 True aceruloplasminemia inherited deficiency anemia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011426 MONDO:0017763 True aceruloplasminemia disorder of iron metabolism and transport UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011426 MONDO:0018307 True aceruloplasminemia neurodegeneration with brain iron accumulation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS -MONDO:0011426 MONDO:0019118 True aceruloplasminemia inherited retinal dystrophy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0011428 MONDO:0010004 True ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3 EEC syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED -MONDO:0011429 MONDO:0005578 True juvenile idiopathic arthritis arthritic joint disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0011430 MONDO:0011060 True pulverulent cataract early-onset non-syndromic cataract UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011432 MONDO:0017393 True blepharophimosis - intellectual disability syndrome, Verloes type blepharophimosis - intellectual disability syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011435 MONDO:0016660 True microcephaly 2, primary, autosomal recessive, with or without cortical malformations autosomal recessive primary microcephaly UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0011436 MONDO:0001516 True autosomal recessive distal spinal muscular atrophy 1 spinal muscular atrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0011436 MONDO:0015363 True autosomal recessive distal spinal muscular atrophy 1 neuronopathy, distal hereditary motor, autosomal recessive UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0011437 MONDO:0016660 True microcephaly 4, primary, autosomal recessive autosomal recessive primary microcephaly UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0011438 MONDO:0006607 True acne sebaceous gland disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0011439 MONDO:0019792 True spinocerebellar ataxia type 12 autosomal dominant cerebellar ataxia type I UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011441 MONDO:0019369 True complex regional pain syndrome type 1 complex regional pain syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0011442 MONDO:0015609 True advanced sleep phase syndrome 1 advanced sleep phase syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0011443 MONDO:0000032 True febrile seizures, familial, 4 febrile seizures, familial UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0011429 MONDO:0005578 True juvenile idiopathic arthritis arthritic joint disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0011435 MONDO:0016660 True microcephaly 2, primary, autosomal recessive, with or without cortical malformations autosomal recessive primary microcephaly UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0011437 MONDO:0016660 True microcephaly 4, primary, autosomal recessive autosomal recessive primary microcephaly UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0011438 MONDO:0002406 True acne dermatitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0011441 MONDO:0002254 True complex regional pain syndrome type 1 syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0011442 MONDO:0015609 True advanced sleep phase syndrome 1 advanced sleep phase syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0011443 MONDO:0000032 True febrile seizures, familial, 4 febrile seizures, familial UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS MONDO:0011444 MONDO:0007473 True Duane retraction syndrome 2 Duane retraction syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0011448 MONDO:0020088 True PPARG-related familial partial lipodystrophy familial partial lipodystrophy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0011449 MONDO:0019366 True Salla disease free sialic acid storage disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011448 MONDO:0020088 True PPARG-related familial partial lipodystrophy familial partial lipodystrophy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS MONDO:0011450 MONDO:0100526 True breast-ovarian cancer, familial, susceptibility to, 1 breast-ovarian cancer, familial, susceptibility to UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0011451 MONDO:0015487 True cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1 fatal infantile encephalocardiomyopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0011452 MONDO:0003037 True hypotrichosis 7 hypotrichosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0011454 MONDO:0016432 True patent ductus arteriosus-bicuspid aortic valve-hand anomalies syndrome heart-hand syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011456 MONDO:0019005 True nephronophthisis 3 nephronophthisis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0011458 MONDO:0018998 True Leber congenital amaurosis 4 Leber congenital amaurosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0011452 MONDO:0003037 True hypotrichosis 7 hypotrichosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0011456 MONDO:0019005 True nephronophthisis 3 nephronophthisis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0011458 MONDO:0018998 True Leber congenital amaurosis 4 Leber congenital amaurosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS MONDO:0011459 MONDO:0016342 True arrhythmogenic right ventricular dysplasia 5 familial isolated arrhythmogenic right ventricular dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0011460 MONDO:0016342 True arrhythmogenic right ventricular dysplasia 6 familial isolated arrhythmogenic right ventricular dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0011461 MONDO:0000032 True generalized epilepsy with febrile seizures plus, type 2 febrile seizures, familial UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0011461 MONDO:0018214 True generalized epilepsy with febrile seizures plus, type 2 generalized epilepsy with febrile seizures plus UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0011462 MONDO:0019751 True pyogenic arthritis-pyoderma gangrenosum-acne syndrome autoinflammatory syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011464 MONDO:0019793 True spinocerebellar ataxia type 11 autosomal dominant cerebellar ataxia type III UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011465 MONDO:0005341 True infundibulocystic basal cell carcinoma skin basal cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0011466 MONDO:0016108 True distal myopathy, Welander type autosomal dominant distal myopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011468 MONDO:0020127 True hereditary motor and sensory neuropathy, Okinawa type hereditary peripheral neuropathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011469 MONDO:0001713 True congenital amegakaryocytic thrombocytopenia inherited aplastic anemia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0011471 MONDO:0005265 True inflammatory bowel disease 3 inflammatory bowel disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0011472 MONDO:0019287 True epidermolysis bullosa simplex due to plakophilin deficiency ectodermal dysplasia syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING -MONDO:0011473 MONDO:0018998 True Leber congenital amaurosis 5 Leber congenital amaurosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0011474 MONDO:0019490 True progressive familial heart block type IB progressive familial heart block UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0011475 MONDO:0018995 True Charcot-Marie-Tooth disease type 4B2 Charcot-Marie-Tooth disease type 4 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0011476 MONDO:0015131 True MHC class I deficiency combined immunodeficiency UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0011461 MONDO:0018214 True generalized epilepsy with febrile seizures plus, type 2 generalized epilepsy with febrile seizures plus UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0011462 MONDO:0019751 True pyogenic arthritis-pyoderma gangrenosum-acne syndrome autoinflammatory syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011465 MONDO:0005341 True infundibulocystic basal cell carcinoma skin basal cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0011471 MONDO:0005265 True inflammatory bowel disease 3 inflammatory bowel disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0011473 MONDO:0018998 True Leber congenital amaurosis 5 Leber congenital amaurosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0011474 MONDO:0019490 True progressive familial heart block type IB progressive familial heart block UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS MONDO:0011477 MONDO:0005486 True tooth agenesis, selective, 3 tooth agenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0011479 MONDO:0000992 True postural orthostatic tachycardia syndrome heart conduction disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0011480 MONDO:0019587 True autosomal dominant nonsyndromic hearing loss 20 autosomal dominant nonsyndromic hearing loss UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0011481 MONDO:0015338 True craniosynostosis 2 syndromic craniosynostosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011480 MONDO:0019587 True autosomal dominant nonsyndromic hearing loss 20 autosomal dominant nonsyndromic hearing loss UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS MONDO:0011482 MONDO:0016333 True dilated cardiomyopathy 1I familial dilated cardiomyopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0011484 MONDO:0017990 True catecholaminergic polymorphic ventricular tachycardia 1 catecholaminergic polymorphic ventricular tachycardia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0011485 MONDO:0017265 True autosomal recessive congenital ichthyosis 5 autosomal recessive congenital ichthyosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0011486 MONDO:0019950 True congenital muscular dystrophy 1B congenital muscular dystrophy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0011487 MONDO:0015548 True Huntington disease-like 3 Huntington disease-like syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011488 MONDO:0016660 True microcephaly 3, primary, autosomal recessive autosomal recessive primary microcephaly UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0011489 MONDO:0015149 True hereditary spastic paraplegia 12 pure hereditary spastic paraplegia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011493 MONDO:0019354 True Stickler syndrome type 2 Stickler syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0011496 MONDO:0022800 True mild spondyloepiphyseal dysplasia due to COL2A1 mutation with early-onset osteoarthritis type 2 collagenopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011497 MONDO:0015762 True hereditary North American Indian childhood cirrhosis progressive familial intrahepatic cholestasis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING -MONDO:0011500 MONDO:0019755 True Becker nevus syndrome developmental defect during embryogenesis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011502 MONDO:0003847 True Wolfram syndrome 2 hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0011502 MONDO:0018105 True Wolfram syndrome 2 Wolfram syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0011503 MONDO:0000193 True cortisone reductase deficiency 1 cortisone reductase deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0011505 MONDO:0017774 True familial hypobetalipoproteinemia 2 hypobetalipoproteinemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0011510 MONDO:0015159 True Bohring-Opitz syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011512 MONDO:0000426 True Brooke-Spiegler syndrome autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0011514 MONDO:0020289 True tricuspid atresia congenital tricuspid malformation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011518 MONDO:0015159 True Wiedemann-Steiner syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011519 MONDO:0019587 True autosomal dominant nonsyndromic hearing loss 23 autosomal dominant nonsyndromic hearing loss UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0011521 MONDO:0005265 True inflammatory bowel disease 7 inflammatory bowel disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0011522 MONDO:0019064 True hereditary spastic paraplegia 14 hereditary spastic paraplegia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0011523 MONDO:0015229 True Bardet-Biedl syndrome 6 Bardet-Biedl syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0011524 MONDO:0016537 True Dianzani autoimmune lymphoproliferative disease lymphoproliferative syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING -MONDO:0011527 MONDO:0018995 True Charcot-Marie-Tooth disease type 4E Charcot-Marie-Tooth disease type 4 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0011484 MONDO:0017990 True catecholaminergic polymorphic ventricular tachycardia 1 catecholaminergic polymorphic ventricular tachycardia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0011485 MONDO:0017265 True autosomal recessive congenital ichthyosis 5 autosomal recessive congenital ichthyosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0011488 MONDO:0016660 True microcephaly 3, primary, autosomal recessive autosomal recessive primary microcephaly UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0011493 MONDO:0019354 True Stickler syndrome type 2 Stickler syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0011503 MONDO:0000193 True cortisone reductase deficiency 1 cortisone reductase deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0011514 MONDO:0005453 True tricuspid atresia congenital heart disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0011519 MONDO:0019587 True autosomal dominant nonsyndromic hearing loss 23 autosomal dominant nonsyndromic hearing loss UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0011521 MONDO:0005265 True inflammatory bowel disease 7 inflammatory bowel disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0011522 MONDO:0019064 True hereditary spastic paraplegia 14 hereditary spastic paraplegia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0011523 MONDO:0015229 True Bardet-Biedl syndrome 6 Bardet-Biedl syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS MONDO:0011527 MONDO:0033352 True Charcot-Marie-Tooth disease type 4E neuropathy, congenital hypomelinating UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0011528 MONDO:0003947 True hyper-IgM syndrome type 2 hyper-IgM syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0011528 MONDO:0006025 True hyper-IgM syndrome type 2 autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0011529 MONDO:0019792 True spinocerebellar ataxia type 13 autosomal dominant cerebellar ataxia type I UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011530 MONDO:0018230 True mesomelic dysplasia, Savarirayan type skeletal dysplasia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011531 MONDO:0018997 True Noonan syndrome 2 Noonan syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0011532 MONDO:0019064 True hereditary spastic paraplegia 13 hereditary spastic paraplegia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0011533 MONDO:0002254 True temtamy preaxial brachydactyly syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0011533 MONDO:0006025 True temtamy preaxial brachydactyly syndrome autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0011533 MONDO:0015286 True temtamy preaxial brachydactyly syndrome congenital disorder of glycosylation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0011533 MONDO:0015327 True temtamy preaxial brachydactyly syndrome developmental anomaly of metabolic origin UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011533 MONDO:0019054 True temtamy preaxial brachydactyly syndrome congenital limb malformation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011534 MONDO:0018995 True Charcot-Marie-Tooth disease type 4G Charcot-Marie-Tooth disease type 4 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0011535 MONDO:0016576 True split hand-foot malformation 4 split hand-foot malformation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0011528 MONDO:0003947 True hyper-IgM syndrome type 2 hyper-IgM syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0011531 MONDO:0018997 True Noonan syndrome 2 Noonan syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0011532 MONDO:0019064 True hereditary spastic paraplegia 13 hereditary spastic paraplegia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0011535 MONDO:0016576 True split hand-foot malformation 4 split hand-foot malformation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS MONDO:0011536 MONDO:0043878 True optic atrophy 4 hereditary optic atrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0011537 MONDO:0000426 True macrocephaly-autism syndrome autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0011539 MONDO:0018958 True nemaline myopathy 5 nemaline myopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0011540 MONDO:0019792 True spinocerebellar ataxia type 14 autosomal dominant cerebellar ataxia type I UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011541 MONDO:0016333 True dilated cardiomyopathy 1J familial dilated cardiomyopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0011539 MONDO:0018958 True nemaline myopathy 5 nemaline myopathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0011541 MONDO:0016333 True dilated cardiomyopathy 1J familial dilated cardiomyopathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0011544 MONDO:0000448 True paragangliomas 3 paraganglioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0011545 MONDO:0000030 True autosomal dominant nocturnal frontal lobe epilepsy 3 sleep-related hypermotor epilepsy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0011545 MONDO:0020300 True autosomal dominant nocturnal frontal lobe epilepsy 3 autosomal dominant nocturnal frontal lobe epilepsy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0011546 MONDO:0018677 True heterotaxy, visceral, 2, autosomal visceral heterotaxy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0011549 MONDO:0003037 True hypotrichosis 1 hypotrichosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0011551 MONDO:0016812 True TH-deficient dopa-responsive dystonia dopa-responsive dystonia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011551 MONDO:0017307 True TH-deficient dopa-responsive dystonia disorder of tyrosine metabolism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011552 MONDO:0005090 True schizophrenia 10 schizophrenia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED -MONDO:0011553 MONDO:0019588 True autosomal recessive nonsyndromic hearing loss 26 hearing loss, autosomal recessive UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0011555 MONDO:0018234 True radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome dysostosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011555 MONDO:0018795 True radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome syndromic constitutional thrombocytopenia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011555 MONDO:0019054 True radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome congenital limb malformation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011558 MONDO:0016484 True Usher syndrome type 2C Usher syndrome type 2 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0011559 MONDO:0019008 True benign recurrent intrahepatic cholestasis type 2 benign recurrent intrahepatic cholestasis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0011562 MONDO:0008199 True autosomal dominant Parkinson disease 4 late-onset Parkinson disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED +MONDO:0011549 MONDO:0003037 True hypotrichosis 1 hypotrichosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0011553 MONDO:0019588 True autosomal recessive nonsyndromic hearing loss 26 hearing loss, autosomal recessive UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0011558 MONDO:0016484 True Usher syndrome type 2C Usher syndrome type 2 UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0011559 MONDO:0019008 True benign recurrent intrahepatic cholestasis type 2 benign recurrent intrahepatic cholestasis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS MONDO:0011563 MONDO:0016070 True fibromatosis, gingival, 2 hereditary gingival fibromatosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0011564 MONDO:0015993 True cone-rod dystrophy 8 cone-rod dystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0011565 MONDO:0000816 True metabolic syndrome X abdominal obesity-metabolic syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0011564 MONDO:0015993 True cone-rod dystrophy 8 cone-rod dystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0011565 MONDO:0000816 True metabolic syndrome X abdominal obesity-metabolic syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS MONDO:0011566 MONDO:0000816 True abdominal obesity-metabolic syndrome quantitative trait locus 2 abdominal obesity-metabolic syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0011567 MONDO:0016333 True dilated cardiomyopathy 1K familial dilated cardiomyopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0011568 MONDO:0019587 True autosomal dominant nonsyndromic hearing loss 25 autosomal dominant nonsyndromic hearing loss UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0011569 MONDO:0018993 True Charcot-Marie-Tooth disease type 2B1 Charcot-Marie-Tooth disease type 2 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0011569 MONDO:0021106 True Charcot-Marie-Tooth disease type 2B1 laminopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011570 MONDO:0018993 True Charcot-Marie-Tooth disease type 2B2 Charcot-Marie-Tooth disease type 2 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0011575 MONDO:0015159 True cerebrooculonasal syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011576 MONDO:0016525 True familial hyperaldosteronism type II familial hyperaldosteronism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0011577 MONDO:0019952 True myopathy, proximal, and ophthalmoplegia congenital myopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0011578 MONDO:0017896 True familial papillary thyroid carcinoma with renal papillary neoplasia familial nonmedullary thyroid carcinoma UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING -MONDO:0011579 MONDO:0019118 True late-onset retinal degeneration inherited retinal dystrophy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0011581 MONDO:0019287 True arrhythmogenic cardiomyopathy with wooly hair and keratoderma ectodermal dysplasia syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS -MONDO:0011582 MONDO:0017338 True multiple mitochondrial dysfunctions syndrome 1 fatal multiple mitochondrial dysfunctions syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0011583 MONDO:0005620 True cerebral amyloid angiopathy, APP-related cerebral amyloid angiopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0011584 MONDO:0019391 True Fanconi anemia complementation group D1 Fanconi anemia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0011585 MONDO:0001516 True autosomal recessive distal spinal muscular atrophy 2 spinal muscular atrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0011585 MONDO:0015363 True autosomal recessive distal spinal muscular atrophy 2 neuronopathy, distal hereditary motor, autosomal recessive UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0011568 MONDO:0019587 True autosomal dominant nonsyndromic hearing loss 25 autosomal dominant nonsyndromic hearing loss UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0011576 MONDO:0016525 True familial hyperaldosteronism type II familial hyperaldosteronism UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0011582 MONDO:0017338 True multiple mitochondrial dysfunctions syndrome 1 fatal multiple mitochondrial dysfunctions syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0011583 MONDO:0005620 True cerebral amyloid angiopathy, APP-related cerebral amyloid angiopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0011584 MONDO:0019391 True Fanconi anemia complementation group D1 Fanconi anemia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS MONDO:0011586 MONDO:0005349 True otosclerosis 2 otosclerosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0011588 MONDO:0000009 True platelet-type bleeding disorder 12 inherited bleeding disorder, platelet-type UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0011588 MONDO:0000009 True platelet-type bleeding disorder 12 inherited bleeding disorder, platelet-type UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS MONDO:0011589 MONDO:0000170 True microphthalmia with coloboma 2 microphthalmia, isolated, with coloboma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0011592 MONDO:0019516 True exudative vitreoretinopathy 3 exudative vitreoretinopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0011593 MONDO:0017615 True seizures, benign familial infantile, 2 benign familial infantile epilepsy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0011595 MONDO:0019284 True nonsyndromic congenital nail disorder 7 inherited isolated nail anomaly UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0011599 MONDO:0006918 True birdshot chorioretinopathy posterior uveitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0011601 MONDO:0016602 True neonatal intrahepatic cholestasis due to citrin deficiency citrin deficiency UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011602 MONDO:0019588 True autosomal recessive nonsyndromic hearing loss 27 hearing loss, autosomal recessive UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0011603 MONDO:0016112 True GNE myopathy hereditary inclusion-body myopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011603 MONDO:0017749 True GNE myopathy disorder of multiple glycosylation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011603 MONDO:0018795 True GNE myopathy syndromic constitutional thrombocytopenia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011612 MONDO:0004736 True glycine encephalopathy inborn disorder of amino acid metabolism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0011612 MONDO:0019239 True glycine encephalopathy inborn disorder of serine family metabolism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011613 MONDO:0017279 True autosomal recessive early-onset Parkinson disease 6 young-onset Parkinson disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0011614 MONDO:0017713 True 3-hydroxy-3-methylglutaryl-CoA synthase deficiency disorder of fatty acid oxidation and ketogenesis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011616 MONDO:0016296 True holoprosencephaly 6 holoprosencephaly UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0011620 MONDO:0018230 True metaphyseal dysplasia, Braun-Tinschert type skeletal dysplasia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011621 MONDO:0019054 True acropectoral syndrome congenital limb malformation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011624 MONDO:0019231 True transaldolase deficiency inborn disorder of pentose phosphate metabolism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011625 MONDO:0019587 True autosomal dominant nonsyndromic hearing loss 18 autosomal dominant nonsyndromic hearing loss UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0011592 MONDO:0019516 True exudative vitreoretinopathy 3 exudative vitreoretinopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0011593 MONDO:0017615 True seizures, benign familial infantile, 2 benign familial infantile epilepsy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0011595 MONDO:0019284 True nonsyndromic congenital nail disorder 7 inherited isolated nail anomaly UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0011602 MONDO:0019588 True autosomal recessive nonsyndromic hearing loss 27 hearing loss, autosomal recessive UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0011612 MONDO:0005560 True glycine encephalopathy brain disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0011616 MONDO:0016296 True holoprosencephaly 6 holoprosencephaly UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0011625 MONDO:0019587 True autosomal dominant nonsyndromic hearing loss 18 autosomal dominant nonsyndromic hearing loss UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS MONDO:0011627 MONDO:0020836 True autism, susceptibility to, 5 autism, susceptiblity to UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0011628 MONDO:0019215 True propionic acidemia classic organic aciduria UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011629 MONDO:0005501 True MOGS-congenital disorder of glycosylation congenital disorder of glycosylation type II UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0011629 MONDO:0017740 True MOGS-congenital disorder of glycosylation disorder of protein N-glycosylation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011630 MONDO:0019200 True retinitis pigmentosa 28 retinitis pigmentosa UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0011631 MONDO:0006507 True hemochromatosis type 4 hereditary hemochromatosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0011629 MONDO:0005501 True MOGS-congenital disorder of glycosylation congenital disorder of glycosylation type II UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0011630 MONDO:0019200 True retinitis pigmentosa 28 retinitis pigmentosa UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0011631 MONDO:0006507 True hemochromatosis type 4 hereditary hemochromatosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS MONDO:0011632 MONDO:0005144 True amyotrophic lateral sclerosis type 21 familial amyotrophic lateral sclerosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0011633 MONDO:0018993 True Charcot-Marie-Tooth disease axonal type 2C Charcot-Marie-Tooth disease type 2 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0011635 MONDO:0000334 True goiter, multinodular 3 multinodular goiter UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0011636 MONDO:0015253 True Diamond-Blackfan anemia 2 Diamond-Blackfan anemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0011638 MONDO:0015548 True neuroferritinopathy Huntington disease-like syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011638 MONDO:0017763 True neuroferritinopathy disorder of iron metabolism and transport UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011638 MONDO:0018307 True neuroferritinopathy neurodegeneration with brain iron accumulation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0011639 MONDO:0015253 True Diamond-Blackfan anemia 15 with mandibulofacial dysostosis Diamond-Blackfan anemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0011640 MONDO:0015159 True genitopatellar syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011640 MONDO:0018234 True genitopatellar syndrome dysostosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011644 MONDO:0004674 True pars planitis chorioretinitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0011652 MONDO:0003847 True Phelan-McDermid syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0011652 MONDO:0022760 True Phelan-McDermid syndrome chromosome 22q deletion UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011655 MONDO:0018078 True alveolar soft part sarcoma soft tissue sarcoma UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011656 MONDO:0005382 True paget disease of bone 4 bone Paget disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0011657 MONDO:0019587 True autosomal dominant nonsyndromic hearing loss 24 autosomal dominant nonsyndromic hearing loss UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0011658 MONDO:0017279 True autosomal recessive early-onset Parkinson disease 7 young-onset Parkinson disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0011636 MONDO:0015253 True Diamond-Blackfan anemia 2 Diamond-Blackfan anemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0011638 MONDO:0018307 True neuroferritinopathy neurodegeneration with brain iron accumulation UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0011639 MONDO:0015253 True Diamond-Blackfan anemia 15 with mandibulofacial dysostosis Diamond-Blackfan anemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0011655 MONDO:0018078 True alveolar soft part sarcoma soft tissue sarcoma UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011656 MONDO:0005382 True paget disease of bone 4 bone Paget disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0011657 MONDO:0019587 True autosomal dominant nonsyndromic hearing loss 24 autosomal dominant nonsyndromic hearing loss UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS MONDO:0011659 MONDO:0018677 True heterotaxy, visceral, 3, autosomal visceral heterotaxy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0011660 MONDO:0019587 True autosomal dominant nonsyndromic hearing loss 22 autosomal dominant nonsyndromic hearing loss UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0011661 MONDO:0005265 True inflammatory bowel disease 5 inflammatory bowel disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0011662 MONDO:0001162 True pathological gambling impulse control disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0011660 MONDO:0019587 True autosomal dominant nonsyndromic hearing loss 22 autosomal dominant nonsyndromic hearing loss UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0011661 MONDO:0005265 True inflammatory bowel disease 5 inflammatory bowel disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0011662 MONDO:0001162 True pathological gambling impulse control disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0011664 MONDO:0021094 True immunodeficiency due to CD25 deficiency immunodeficiency disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0011667 MONDO:0018911 True maturity-onset diabetes of the young type 4 maturity-onset diabetes of the young UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED -MONDO:0011668 MONDO:0018911 True maturity-onset diabetes of the young type 6 maturity-onset diabetes of the young UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED -MONDO:0011669 MONDO:0002254 True hypotonia-cystinuria syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0011669 MONDO:0016884 True hypotonia-cystinuria syndrome partial deletion of the short arm of chromosome 2 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011669 MONDO:0019216 True hypotonia-cystinuria syndrome inborn disorder of amino acid transport UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011670 MONDO:0020066 True Ehlers-Danlos syndrome due to tenascin-X deficiency Ehlers-Danlos syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0011671 MONDO:0016987 True Huntington disease-like 2 neuroacanthocytosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0011672 MONDO:0015757 True persistent polyclonal B-cell lymphocytosis lymphoid hemopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011673 MONDO:0019587 True autosomal dominant nonsyndromic hearing loss 30 autosomal dominant nonsyndromic hearing loss UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0011674 MONDO:0019548 True Charcot-Marie-Tooth disease dominant intermediate B autosomal dominant intermediate Charcot-Marie-Tooth disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011675 MONDO:0019548 True Charcot-Marie-Tooth Disease, axonal, type 2GG autosomal dominant intermediate Charcot-Marie-Tooth disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011676 MONDO:0020022 True PHACE syndrome central nervous system malformation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011681 MONDO:0016227 True episodic ataxia type 4 hereditary episodic ataxia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0011682 MONDO:0016227 True episodic ataxia type 3 hereditary episodic ataxia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0011683 MONDO:0018910 True oculocutaneous albinism type 4 oculocutaneous albinism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0011687 MONDO:0018993 True Charcot-Marie-Tooth disease axonal type 2F Charcot-Marie-Tooth disease type 2 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0011688 MONDO:0000172 True muscular dystrophy-dystroglycanopathy type B5 muscular dystrophy-dystroglycanopathy, type B UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0011667 MONDO:0018911 True maturity-onset diabetes of the young type 4 maturity-onset diabetes of the young UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS +MONDO:0011668 MONDO:0018911 True maturity-onset diabetes of the young type 6 maturity-onset diabetes of the young UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS +MONDO:0011670 MONDO:0020066 True Ehlers-Danlos syndrome due to tenascin-X deficiency Ehlers-Danlos syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0011673 MONDO:0019587 True autosomal dominant nonsyndromic hearing loss 30 autosomal dominant nonsyndromic hearing loss UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0011681 MONDO:0016227 True episodic ataxia type 4 hereditary episodic ataxia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0011682 MONDO:0016227 True episodic ataxia type 3 hereditary episodic ataxia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0011683 MONDO:0018910 True oculocutaneous albinism type 4 oculocutaneous albinism UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0011686 MONDO:0002254 True DNA ligase IV deficiency syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0011688 MONDO:0000172 True muscular dystrophy-dystroglycanopathy type B5 muscular dystrophy-dystroglycanopathy, type B UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS MONDO:0011691 MONDO:0005144 True amyotrophic lateral sclerosis type 3 familial amyotrophic lateral sclerosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0011694 MONDO:0019792 True spinocerebellar ataxia type 15/16 autosomal dominant cerebellar ataxia type I UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011698 MONDO:0000351 True glycine N-methyltransferase deficiency disorder of methionine catabolism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0011699 MONDO:0005265 True inflammatory bowel disease 8 inflammatory bowel disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0011700 MONDO:0005265 True inflammatory bowel disease 6 inflammatory bowel disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0011701 MONDO:0005265 True inflammatory bowel disease 4 inflammatory bowel disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0011699 MONDO:0005265 True inflammatory bowel disease 8 inflammatory bowel disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0011700 MONDO:0005265 True inflammatory bowel disease 6 inflammatory bowel disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0011701 MONDO:0005265 True inflammatory bowel disease 4 inflammatory bowel disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS MONDO:0011702 MONDO:0016333 True dilated cardiomyopathy 1L familial dilated cardiomyopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0011705 MONDO:0006359 True lymphangioleiomyomatosis neoplasm with perivascular epithelioid cell differentiation UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011706 MONDO:0018307 True Kufor-Rakeb syndrome neurodegeneration with brain iron accumulation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS -MONDO:0011708 MONDO:0019587 True autosomal dominant nonsyndromic hearing loss 36 autosomal dominant nonsyndromic hearing loss UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0011709 MONDO:0016576 True split hand-foot malformation 5 split hand-foot malformation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0011708 MONDO:0019587 True autosomal dominant nonsyndromic hearing loss 36 autosomal dominant nonsyndromic hearing loss UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0011709 MONDO:0016576 True split hand-foot malformation 5 split hand-foot malformation UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS MONDO:0011711 MONDO:0000724 True specific language impairment 2 specific language impairment UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0011715 MONDO:0019342 True Seckel syndrome 2 Seckel syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0011716 MONDO:0019383 True acute hemorrhagic leukoencephalitis acute disseminated encephalomyelitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0011717 MONDO:0015624 True hyperinsulinism-hyperammonemia syndrome diazoxide-sensitive diffuse hyperinsulinism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011718 MONDO:0016575 True primary ciliary dyskinesia 2 primary ciliary dyskinesia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0011719 MONDO:0018506 True gastrointestinal stromal tumor mesenchymal tumor of small intestine UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011720 MONDO:0004983 True spermatogenic failure 3 spermatogenic failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0011721 MONDO:0016145 True distal myopathy with anterior tibial onset qualitative or quantitative defects of dysferlin UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011721 MONDO:0018949 True distal myopathy with anterior tibial onset distal myopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0011722 MONDO:0015159 True intellectual disability-obesity-prognathism-eye and skin anomalies syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011715 MONDO:0019342 True Seckel syndrome 2 Seckel syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0011716 MONDO:0003337 True acute hemorrhagic leukoencephalitis acute hemorrhagic encephalitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0011718 MONDO:0016575 True primary ciliary dyskinesia 2 primary ciliary dyskinesia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0011720 MONDO:0004983 True spermatogenic failure 3 spermatogenic failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0011721 MONDO:0018949 True distal myopathy with anterior tibial onset distal myopathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS MONDO:0011724 MONDO:0000188 True encephalopathy due to GLUT1 deficiency GLUT1 deficiency syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0011725 MONDO:0009044 True Crigler-Najjar syndrome type 2 Crigler-Najjar syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011728 MONDO:0000477 True blepharospasm focal dystonia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0011730 MONDO:0016790 True fumaric aciduria tricarboxylic acid cycle disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011730 MONDO:0020127 True fumaric aciduria hereditary peripheral neuropathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011731 MONDO:0019226 True glucose-galactose malabsorption glucose transport disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011732 MONDO:0018240 True familial digital arthropathy-brachydactyly TRPV4-related bone disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011732 MONDO:0019054 True familial digital arthropathy-brachydactyly congenital limb malformation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011735 MONDO:0003947 True hyper-IgM syndrome type 3 hyper-IgM syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0011738 MONDO:0003847 True bilateral frontoparietal polymicrogyria hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0011738 MONDO:0017091 True bilateral frontoparietal polymicrogyria bilateral polymicrogyria UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011740 MONDO:0015079 True Carney-Stratakis syndrome multiple polyglandular tumor UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011744 MONDO:0016223 True primary intraosseous venous malformation infantile hemangioma of rare localization UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011748 MONDO:0010168 True Usher syndrome type 1G Usher syndrome type 1 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0011752 MONDO:0019005 True nephronophthisis 4 nephronophthisis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0011735 MONDO:0003947 True hyper-IgM syndrome type 3 hyper-IgM syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0011740 MONDO:0015356 True Carney-Stratakis syndrome hereditary neoplastic syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011752 MONDO:0019005 True nephronophthisis 4 nephronophthisis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS MONDO:0011755 MONDO:0017842 True senior-loken syndrome 3 Senior-Loken syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0011756 MONDO:0017842 True Senior-Loken syndrome 4 Senior-Loken syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0011757 MONDO:0021004 True brachydactyly type A1B brachydactyly UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0011758 MONDO:0001586 True Hurler syndrome mucopolysaccharidosis type 1 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0011758 MONDO:0016340 True Hurler syndrome familial restrictive cardiomyopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING -MONDO:0011758 MONDO:0800088 True Hurler syndrome lysosomal storage disease with skeletal involvement UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011759 MONDO:0001586 True Hurler-Scheie syndrome mucopolysaccharidosis type 1 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0011759 MONDO:0800088 True Hurler-Scheie syndrome lysosomal storage disease with skeletal involvement UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011760 MONDO:0001586 True Scheie syndrome mucopolysaccharidosis type 1 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0011760 MONDO:0800088 True Scheie syndrome lysosomal storage disease with skeletal involvement UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011761 MONDO:0019587 True autosomal dominant nonsyndromic hearing loss 21 autosomal dominant nonsyndromic hearing loss UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0011762 MONDO:0019588 True autosomal recessive nonsyndromic hearing loss 22 hearing loss, autosomal recessive UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0011764 MONDO:0008199 True autosomal dominant Parkinson disease 8 late-onset Parkinson disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED -MONDO:0011765 MONDO:0016648 True multiple epiphyseal dysplasia type 5 multiple epiphyseal dysplasia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0011766 MONDO:0020040 True 46,XY gonadal dysgenesis-motor and sensory neuropathy syndrome 46,XY disorder of sex development UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011767 MONDO:0019588 True autosomal recessive nonsyndromic hearing loss 31 hearing loss, autosomal recessive UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0011758 MONDO:0001586 True Hurler syndrome mucopolysaccharidosis type 1 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0011758 MONDO:0002254 True Hurler syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0011759 MONDO:0001586 True Hurler-Scheie syndrome mucopolysaccharidosis type 1 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0011759 MONDO:0002254 True Hurler-Scheie syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0011760 MONDO:0001586 True Scheie syndrome mucopolysaccharidosis type 1 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0011760 MONDO:0002254 True Scheie syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0011761 MONDO:0019587 True autosomal dominant nonsyndromic hearing loss 21 autosomal dominant nonsyndromic hearing loss UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0011762 MONDO:0019588 True autosomal recessive nonsyndromic hearing loss 22 hearing loss, autosomal recessive UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0011765 MONDO:0016648 True multiple epiphyseal dysplasia type 5 multiple epiphyseal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0011767 MONDO:0019588 True autosomal recessive nonsyndromic hearing loss 31 hearing loss, autosomal recessive UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS MONDO:0011770 MONDO:0019625 True aortic aneurysm, familial thoracic 2 familial thoracic aortic aneurysm and aortic dissection UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0011771 MONDO:0001516 True neuronopathy, distal hereditary motor, autosomal recessive 3 spinal muscular atrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0011771 MONDO:0015363 True neuronopathy, distal hereditary motor, autosomal recessive 3 neuronopathy, distal hereditary motor, autosomal recessive UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0011772 MONDO:0005501 True B4GALT1-congenital disorder of glycosylation congenital disorder of glycosylation type II UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0011772 MONDO:0015327 True B4GALT1-congenital disorder of glycosylation developmental anomaly of metabolic origin UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011772 MONDO:0017749 True B4GALT1-congenital disorder of glycosylation disorder of multiple glycosylation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011772 MONDO:0020022 True B4GALT1-congenital disorder of glycosylation central nervous system malformation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011774 MONDO:0019588 True autosomal recessive nonsyndromic hearing loss 30 hearing loss, autosomal recessive UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0011776 MONDO:0016168 True CINCA syndrome cryopyrin-associated periodic syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011778 MONDO:0016648 True multiple epiphyseal dysplasia, Al-Gazali type multiple epiphyseal dysplasia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0011772 MONDO:0005501 True B4GALT1-congenital disorder of glycosylation congenital disorder of glycosylation type II UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0011774 MONDO:0019588 True autosomal recessive nonsyndromic hearing loss 30 hearing loss, autosomal recessive UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS MONDO:0011780 MONDO:0000724 True specific language impairment 3 specific language impairment UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0011781 MONDO:0015548 True spinocerebellar ataxia type 17 Huntington disease-like syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011781 MONDO:0019792 True spinocerebellar ataxia type 17 autosomal dominant cerebellar ataxia type I UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011782 MONDO:0005283 True angioid streaks retinal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0011783 MONDO:0005500 True ALG12-congenital disorder of glycosylation congenital disorder of glycosylation type I UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0011783 MONDO:0017740 True ALG12-congenital disorder of glycosylation disorder of protein N-glycosylation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011784 MONDO:0016820 True Moyamoya disease 2 Moyamoya disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0011785 MONDO:0015149 True hereditary spastic paraplegia 19 pure hereditary spastic paraplegia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011786 MONDO:0000771 True allergic rhinitis allergic respiratory disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0011786 MONDO:0003014 True allergic rhinitis rhinitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0011787 MONDO:0015152 True autosomal recessive limb-girdle muscular dystrophy type 2I autosomal recessive limb-girdle muscular dystrophy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0011788 MONDO:0015338 True cloverleaf skull-multiple congenital anomalies syndrome syndromic craniosynostosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011789 MONDO:0016642 True familial meningioma meningioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0011783 MONDO:0005500 True ALG12-congenital disorder of glycosylation congenital disorder of glycosylation type I UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0011784 MONDO:0016820 True Moyamoya disease 2 Moyamoya disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0011786 MONDO:0003014 True allergic rhinitis rhinitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0011787 MONDO:0015152 True autosomal recessive limb-girdle muscular dystrophy type 2I autosomal recessive limb-girdle muscular dystrophy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0011789 MONDO:0016642 True familial meningioma meningioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0011790 MONDO:0000152 True Amish lethal microcephaly thiamine-responsive dysfunction syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0011792 MONDO:0010132 True thyroid dyshormonogenesis 6 familial thyroid dyshormonogenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0011795 MONDO:0015161 True anonychia-microcephaly syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011799 MONDO:0019588 True autosomal recessive nonsyndromic hearing loss 33 hearing loss, autosomal recessive UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0011799 MONDO:0019588 True autosomal recessive nonsyndromic hearing loss 33 hearing loss, autosomal recessive UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS MONDO:0011800 MONDO:0100242 True glioma susceptibility 4 glioma susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0011801 MONDO:0020127 True spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1 hereditary peripheral neuropathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011801 MONDO:0020771 True spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1 spinocerebellar ataxia, autosomal recessive, with axonal neuropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0011803 MONDO:0016387 True hereditary spastic paraplegia 7 mitochondrial oxidative phosphorylation disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011803 MONDO:0019064 True hereditary spastic paraplegia 7 hereditary spastic paraplegia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0011803 MONDO:0100309 True hereditary spastic paraplegia 7 hereditary ataxia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0011804 MONDO:0017979 True autoimmune lymphoproliferative syndrome type 2B autoimmune lymphoproliferative syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0011806 MONDO:0018230 True osteofibrous dysplasia skeletal dysplasia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011811 MONDO:0020047 True autosomal recessive cerebellar ataxia-saccadic intrusion syndrome autosomal recessive syndromic cerebellar ataxia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011812 MONDO:0000426 True Duane-radial ray syndrome autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0011812 MONDO:0002254 True Duane-radial ray syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0011812 MONDO:0018234 True Duane-radial ray syndrome dysostosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0011812 MONDO:0019054 True Duane-radial ray syndrome congenital limb malformation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011814 MONDO:0015799 True Smith-McCort dysplasia 1 Smith-McCort dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0011818 MONDO:0019009 True isolated focal cortical dysplasia type II isolated focal cortical dysplasia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011819 MONDO:0019792 True spinocerebellar ataxia type 19/22 autosomal dominant cerebellar ataxia type I UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011821 MONDO:0018921 True Meckel syndrome, type 3 Meckel syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0011822 MONDO:0015231 True Bartter disease type 3 Bartter syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0011823 MONDO:0015161 True developmental malformations-deafness-dystonia syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011823 MONDO:0044807 True developmental malformations-deafness-dystonia syndrome inherited dystonia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0011803 MONDO:0019064 True hereditary spastic paraplegia 7 hereditary spastic paraplegia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0011814 MONDO:0015799 True Smith-McCort dysplasia 1 Smith-McCort dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0011821 MONDO:0018921 True Meckel syndrome, type 3 Meckel syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0011822 MONDO:0015231 True Bartter disease type 3 Bartter syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS MONDO:0011824 MONDO:0020836 True autism, susceptibility to, 8 autism, susceptiblity to UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0011826 MONDO:0008733 True glucocorticoid deficiency 2 familial glucocorticoid deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0011827 MONDO:0005453 True patent ductus arteriosus congenital heart disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0011828 MONDO:0019502 True intellectual disability, autosomal recessive 2 autosomal recessive non-syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0011829 MONDO:0018151 True coenzyme Q10 deficiency, primary, 1 coenzyme Q10 deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0011830 MONDO:0015146 True lissencephaly due to LIS1 mutation classic lissencephaly UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011826 MONDO:0008733 True glucocorticoid deficiency 2 familial glucocorticoid deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0011827 MONDO:0005385 True patent ductus arteriosus vascular disorder UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0011828 MONDO:0019502 True intellectual disability, autosomal recessive 2 autosomal recessive non-syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0011829 MONDO:0018151 True coenzyme Q10 deficiency, primary, 1 coenzyme Q10 deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS MONDO:0011831 MONDO:0016342 True arrhythmogenic right ventricular dysplasia 8 familial isolated arrhythmogenic right ventricular dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0011832 MONDO:0019587 True autosomal dominant nonsyndromic hearing loss 44 autosomal dominant nonsyndromic hearing loss UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0011833 MONDO:0019792 True spinocerebellar ataxia type 21 autosomal dominant cerebellar ataxia type I UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011834 MONDO:0019792 True spinocerebellar ataxia type 18 autosomal dominant cerebellar ataxia type I UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011835 MONDO:0009637 True sensory ataxic neuropathy, dysarthria, and ophthalmoparesis inborn mitochondrial myopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0011835 MONDO:0016798 True sensory ataxic neuropathy, dysarthria, and ophthalmoparesis ataxia neuropathy spectrum UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011835 MONDO:0020127 True sensory ataxic neuropathy, dysarthria, and ophthalmoparesis hereditary peripheral neuropathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011836 MONDO:0005034 True thyroid Hurthle cell carcinoma thyroid gland follicular carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0011837 MONDO:0015722 True vitamin K-dependent clotting factors, combined deficiency of, type 2 congenital vitamin K-dependent coagulation factors deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0011839 MONDO:0015993 True Newfoundland cone-rod dystrophy cone-rod dystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED +MONDO:0011832 MONDO:0019587 True autosomal dominant nonsyndromic hearing loss 44 autosomal dominant nonsyndromic hearing loss UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0011837 MONDO:0015722 True vitamin K-dependent clotting factors, combined deficiency of, type 2 congenital vitamin K-dependent coagulation factors deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS MONDO:0011840 MONDO:0016333 True dilated cardiomyopathy 1M familial dilated cardiomyopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0011841 MONDO:0000152 True biotin-responsive basal ganglia disease thiamine-responsive dysfunction syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0011841 MONDO:0003996 True biotin-responsive basal ganglia disease basal ganglia disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0011842 MONDO:0017276 True GRN-related frontotemporal lobar degeneration with Tdp43 inclusions frontotemporal dementia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0011843 MONDO:0024573 True hypertrophic cardiomyopathy 25 familial hypertrophic cardiomyopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0011844 MONDO:0000903 True myoclonic dystonia 15 myoclonus-dystonia syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0011843 MONDO:0024573 True hypertrophic cardiomyopathy 25 familial hypertrophic cardiomyopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS MONDO:0011845 MONDO:0100246 True migraine with or without aura, susceptibility to, 3 migraine with or without aura, susceptibility to UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0011847 MONDO:0100246 True migraine without aura, susceptibility to, 4 migraine with or without aura, susceptibility to UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0011850 MONDO:0100246 True migraine with or without aura, susceptibility to, 5 migraine with or without aura, susceptibility to UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0011851 MONDO:0100246 True migraine with or without aura, susceptibility to, 6 migraine with or without aura, susceptibility to UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0011852 MONDO:0019284 True nonsyndromic congenital nail disorder 8 inherited isolated nail anomaly UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0011855 MONDO:0000764 True granular corneal dystrophy type II epithelial-stromal TGFBI dystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0011855 MONDO:0020213 True granular corneal dystrophy type II stromal corneal dystrophy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0011856 MONDO:0016763 True spondylometaphyseal dysplasia-bowed forearms-facial dysmorphism syndrome spondylometaphyseal dysplasia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED +MONDO:0011852 MONDO:0019284 True nonsyndromic congenital nail disorder 8 inherited isolated nail anomaly UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS MONDO:0011857 MONDO:0018054 True atrial fibrillation, familial, 3 familial atrial fibrillation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0011864 MONDO:0015517 True immunodeficiency, common variable, 1 common variable immunodeficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0011866 MONDO:0016396 True pontocerebellar hypoplasia type 1A pontocerebellar hypoplasia type 1 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0011868 MONDO:0015161 True lethal congenital contracture syndrome 2 multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011868 MONDO:0017436 True lethal congenital contracture syndrome 2 lethal congenital contracture syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0011871 MONDO:0017014 True Niemann-Pick disease type B interstitial lung disease specific to childhood UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011871 MONDO:0020127 True Niemann-Pick disease type B hereditary peripheral neuropathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011872 MONDO:0015134 True Griscelli syndrome type 2 constitutional neutropenia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011872 MONDO:0015541 True Griscelli syndrome type 2 hereditary hemophagocytic lymphohistiocytosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING -MONDO:0011872 MONDO:0018306 True Griscelli syndrome type 2 Griscelli syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0011874 MONDO:0015947 True neonatal ichthyosis-sclerosing cholangitis syndrome inherited ichthyosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011874 MONDO:0018646 True neonatal ichthyosis-sclerosing cholangitis syndrome sclerosing cholangitis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011876 MONDO:0015653 True juvenile absence epilepsy monogenic epilepsy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011864 MONDO:0015517 True immunodeficiency, common variable, 1 common variable immunodeficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0011868 MONDO:0017436 True lethal congenital contracture syndrome 2 lethal congenital contracture syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0011872 MONDO:0018306 True Griscelli syndrome type 2 Griscelli syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS MONDO:0011877 MONDO:0020645 True autosomal dominant osteopetrosis 1 autosomal dominant osteopetrosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0011879 MONDO:0015355 True neuronopathy, distal hereditary motor, type 7B distal hereditary motor neuropathy type 7 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0011880 MONDO:0015279 True candidiasis, familial, 3 chronic mucocutaneous candidiasis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0011881 MONDO:0018865 True keratosis palmoplantaris striata 3 striate palmoplantar keratoderma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0011882 MONDO:0017666 True skin fragility-woolly hair-palmoplantar keratoderma syndrome diffuse palmoplantar keratoderma UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011883 MONDO:0017666 True Curly hair - acral keratoderma - caries syndrome diffuse palmoplantar keratoderma UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011883 MONDO:0019287 True Curly hair - acral keratoderma - caries syndrome ectodermal dysplasia syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING -MONDO:0011884 MONDO:0017672 True hypotrichosis-osteolysis-periodontitis-palmoplantar keratoderma syndrome focal palmoplantar keratoderma UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011884 MONDO:0019287 True hypotrichosis-osteolysis-periodontitis-palmoplantar keratoderma syndrome ectodermal dysplasia syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING -MONDO:0011886 MONDO:0015990 True torsion dystonia 13 focal, segmental or multifocal dystonia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011888 MONDO:0015979 True immunodeficiency 67 hereditary predisposition to infections UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011885 MONDO:0002254 True tubulointerstitial nephritis and uveitis syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011888 MONDO:0021094 True immunodeficiency 67 immunodeficiency disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0011889 MONDO:0018993 True Charcot-Marie-Tooth disease type 2I Charcot-Marie-Tooth disease type 2 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0011890 MONDO:0019011 True Charcot-Marie-Tooth disease type 1D Charcot-Marie-Tooth disease type 1 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0011891 MONDO:0000032 True febrile seizures, familial, 8 febrile seizures, familial UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0011891 MONDO:0000032 True febrile seizures, familial, 8 febrile seizures, familial UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS MONDO:0011891 MONDO:0010826 True febrile seizures, familial, 8 childhood absence epilepsy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS MONDO:0011891 MONDO:0018214 True febrile seizures, familial, 8 generalized epilepsy with febrile seizures plus UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0011893 MONDO:0019587 True autosomal dominant nonsyndromic hearing loss 52 autosomal dominant nonsyndromic hearing loss UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0011894 MONDO:0018993 True Charcot-Marie-Tooth disease type 2E Charcot-Marie-Tooth disease type 2 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0011895 MONDO:0015691 True idiopathic hypereosinophilic syndrome hypereosinophilic syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011897 MONDO:0019046 True leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome leukodystrophy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0011899 MONDO:0020297 True Noonan syndrome-like disorder with loose anagen hair Noonan syndrome and Noonan-related syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011901 MONDO:0018993 True Charcot-Marie-Tooth disease axonal type 2H Charcot-Marie-Tooth disease type 2 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0011902 MONDO:0019011 True Charcot-Marie-Tooth disease type 1F Charcot-Marie-Tooth disease type 1 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0011903 MONDO:0018993 True Charcot-Marie-Tooth disease type 2J Charcot-Marie-Tooth disease type 2 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0011904 MONDO:0017615 True seizures, benign familial infantile, 3 benign familial infantile epilepsy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0011906 MONDO:0018841 True congenital bile acid synthesis defect 1 congenital bile acid synthesis defect UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0011907 MONDO:0005516 True acrocapitofemoral dysplasia osteochondrodysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0011907 MONDO:0019695 True acrocapitofemoral dysplasia acromelic dysplasia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011909 MONDO:0019548 True Charcot-Marie-Tooth disease dominant intermediate D autosomal dominant intermediate Charcot-Marie-Tooth disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011911 MONDO:0003847 True craniolenticulosutural dysplasia hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0011911 MONDO:0015161 True craniolenticulosutural dysplasia multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011912 MONDO:0019588 True autosomal recessive nonsyndromic hearing loss 37 hearing loss, autosomal recessive UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0011893 MONDO:0019587 True autosomal dominant nonsyndromic hearing loss 52 autosomal dominant nonsyndromic hearing loss UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0011897 MONDO:0019046 True leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome leukodystrophy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0011904 MONDO:0017615 True seizures, benign familial infantile, 3 benign familial infantile epilepsy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0011906 MONDO:0018841 True congenital bile acid synthesis defect 1 congenital bile acid synthesis defect UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0011912 MONDO:0019588 True autosomal recessive nonsyndromic hearing loss 37 hearing loss, autosomal recessive UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS MONDO:0011915 MONDO:0008004 True mitral valve prolapse, myxomatous 2 familial mitral valve prolapse UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0011916 MONDO:0018993 True Charcot-Marie-Tooth disease axonal type 2K Charcot-Marie-Tooth disease type 2 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0011920 MONDO:0019587 True autosomal dominant nonsyndromic hearing loss 48 autosomal dominant nonsyndromic hearing loss UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0011924 MONDO:0031240 True panic disorder 2 familial panic disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0011925 MONDO:0019950 True congenital merosin-deficient muscular dystrophy 1A congenital muscular dystrophy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0011920 MONDO:0019587 True autosomal dominant nonsyndromic hearing loss 48 autosomal dominant nonsyndromic hearing loss UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS MONDO:0011927 MONDO:0003110 True tufted angioma skin hemangioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011929 MONDO:0016883 True chromosome 1p36 deletion syndrome partial deletion of the short arm of chromosome 1 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011930 MONDO:0000160 True epilepsy, familial adult myoclonic, 2 epilepsy, familial adult myoclonic UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0011932 MONDO:0003037 True hypotrichosis 6 hypotrichosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0011933 MONDO:0005500 True ALG2-congenital disorder of glycosylation congenital disorder of glycosylation type I UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0011933 MONDO:0017740 True ALG2-congenital disorder of glycosylation disorder of protein N-glycosylation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011934 MONDO:0005164 True dermatofibrosarcoma protuberans fibrosarcoma UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0011935 MONDO:0019200 True retinitis pigmentosa 30 retinitis pigmentosa UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0011936 MONDO:0016073 True microphthalmia with brain and digit anomalies syndromic microphthalmia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0011930 MONDO:0000160 True epilepsy, familial adult myoclonic, 2 epilepsy, familial adult myoclonic UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0011932 MONDO:0003037 True hypotrichosis 6 hypotrichosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0011933 MONDO:0005500 True ALG2-congenital disorder of glycosylation congenital disorder of glycosylation type I UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0011935 MONDO:0019200 True retinitis pigmentosa 30 retinitis pigmentosa UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0011936 MONDO:0016073 True microphthalmia with brain and digit anomalies syndromic microphthalmia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS MONDO:0011937 MONDO:0019347 True peeling skin syndrome 4 peeling skin syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0011938 MONDO:0006664 True atrial septal defect 2 atrial septal defect UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0011939 MONDO:0016763 True Spondyloenchondrodysplasia with immune dysregulation spondylometaphyseal dysplasia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0011945 MONDO:0018150 True Gaucher disease perinatal lethal Gaucher disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0011946 MONDO:0019694 True diaphanospondylodysostosis spondylodysplastic dysplasia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011948 MONDO:0020135 True pontocerebellar hypoplasia type 3 pontocerebellar hypoplasia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0011950 MONDO:0015244 True infantile-onset autosomal recessive nonprogressive cerebellar ataxia autosomal recessive cerebellar ataxia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0011938 MONDO:0006664 True atrial septal defect 2 atrial septal defect UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0011939 MONDO:0016763 True Spondyloenchondrodysplasia with immune dysregulation spondylometaphyseal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0011948 MONDO:0020135 True pontocerebellar hypoplasia type 3 pontocerebellar hypoplasia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0011950 MONDO:0015244 True infantile-onset autosomal recessive nonprogressive cerebellar ataxia autosomal recessive cerebellar ataxia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS MONDO:0011951 MONDO:0005144 True amyotrophic lateral sclerosis type 6 familial amyotrophic lateral sclerosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0011952 MONDO:0005144 True amyotrophic lateral sclerosis type 7 familial amyotrophic lateral sclerosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0011953 MONDO:0000166 True familial acute necrotizing encephalopathy encephalopathy, acute, infection-induced UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0011954 MONDO:0024462 True melanoma, cutaneous malignant, susceptibility to, 4 susceptibility to familial cutaneous melanoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0011956 MONDO:0020836 True autism, susceptibility to, 3 autism, susceptiblity to UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0011957 MONDO:0031166 True retinal macular dystrophy type 2 macular dystrophy, retinal UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0011959 MONDO:0005093 True sweet syndrome skin disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0011960 MONDO:0005090 True schizophrenia 11 schizophrenia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED -MONDO:0011962 MONDO:0002715 True endometrial cancer uterine cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0011959 MONDO:0002254 True sweet syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0011962 MONDO:0002715 True endometrial cancer uterine cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0011962 MONDO:0021251 True endometrial cancer endometrium neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011963 MONDO:0018772 True Joubert syndrome 2 Joubert syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0011964 MONDO:0005500 True DPAGT1-congenital disorder of glycosylation congenital disorder of glycosylation type I UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0011964 MONDO:0017740 True DPAGT1-congenital disorder of glycosylation disorder of protein N-glycosylation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011965 MONDO:0005115 True familial temporal lobe epilepsy 2 temporal lobe epilepsy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0011963 MONDO:0018772 True Joubert syndrome 2 Joubert syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0011964 MONDO:0005500 True DPAGT1-congenital disorder of glycosylation congenital disorder of glycosylation type I UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0011965 MONDO:0005115 True familial temporal lobe epilepsy 2 temporal lobe epilepsy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS MONDO:0011966 MONDO:0020341 True periventricular heterotopia with microcephaly, autosomal recessive periventricular nodular heterotopia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0011967 MONDO:0020341 True heterotopia, periventricular, associated with chromosome 5P anomalies periventricular nodular heterotopia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0011968 MONDO:0015152 True autosomal recessive limb-girdle muscular dystrophy type 2D autosomal recessive limb-girdle muscular dystrophy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0011968 MONDO:0016141 True autosomal recessive limb-girdle muscular dystrophy type 2D qualitative or quantitative defects of alpha-sarcoglycan UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011968 MONDO:0016333 True autosomal recessive limb-girdle muscular dystrophy type 2D familial dilated cardiomyopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING -MONDO:0011969 MONDO:0005500 True ALG8-congenital disorder of glycosylation congenital disorder of glycosylation type I UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0011969 MONDO:0017740 True ALG8-congenital disorder of glycosylation disorder of protein N-glycosylation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011970 MONDO:0020072 True rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome childhood-onset epilepsy syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011971 MONDO:0003947 True hyper-IgM syndrome type 5 hyper-IgM syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0011972 MONDO:0005558 True ovarian hyperstimulation syndrome ovarian disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0011974 MONDO:0019200 True retinitis pigmentosa 7 retinitis pigmentosa UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0011975 MONDO:0016779 True paternal uniparental disomy of chromosome 14 multiple congenital anomalies due to 14q32.2 maternally expressed gene defect UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011976 MONDO:0020087 True lipodystrophy-intellectual disability-deafness syndrome hereditary lipodystrophy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011977 MONDO:0015161 True 8q22.1 microdeletion syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011977 MONDO:0016907 True 8q22.1 microdeletion syndrome partial deletion of the long arm of chromosome 8 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011985 MONDO:0003947 True hyper-IgM syndrome type 4 hyper-IgM syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0011987 MONDO:0015993 True cone-rod dystrophy 13 cone-rod dystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0011988 MONDO:0015978 True neutrophil immunodeficiency syndrome functional neutrophil defect UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011989 MONDO:0002428 True leishmaniasis protozoa infectious disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0011968 MONDO:0015152 True autosomal recessive limb-girdle muscular dystrophy type 2D autosomal recessive limb-girdle muscular dystrophy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0011969 MONDO:0005500 True ALG8-congenital disorder of glycosylation congenital disorder of glycosylation type I UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0011971 MONDO:0003947 True hyper-IgM syndrome type 5 hyper-IgM syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0011974 MONDO:0019200 True retinitis pigmentosa 7 retinitis pigmentosa UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0011985 MONDO:0003947 True hyper-IgM syndrome type 4 hyper-IgM syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0011987 MONDO:0015993 True cone-rod dystrophy 13 cone-rod dystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0011989 MONDO:0002428 True leishmaniasis protozoa infectious disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0011990 MONDO:0016027 True seizures, benign familial neonatal, 3 benign neonatal seizures UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0011991 MONDO:0019588 True autosomal recessive nonsyndromic hearing loss 38 hearing loss, autosomal recessive UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0011992 MONDO:0015150 True hereditary spastic paraplegia 25 complex hereditary spastic paraplegia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011994 MONDO:0019587 True autosomal dominant nonsyndromic hearing loss 41 autosomal dominant nonsyndromic hearing loss UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0011996 MONDO:0004643 True chronic myelogenous leukemia, BCR-ABL1 positive myeloid leukemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0011997 MONDO:0015134 True Hermansky-Pudlak syndrome 2 constitutional neutropenia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011997 MONDO:0015541 True Hermansky-Pudlak syndrome 2 hereditary hemophagocytic lymphohistiocytosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING -MONDO:0011997 MONDO:0019312 True Hermansky-Pudlak syndrome 2 Hermansky-Pudlak syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0011991 MONDO:0019588 True autosomal recessive nonsyndromic hearing loss 38 hearing loss, autosomal recessive UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0011994 MONDO:0019587 True autosomal dominant nonsyndromic hearing loss 41 autosomal dominant nonsyndromic hearing loss UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0011996 MONDO:0004643 True chronic myelogenous leukemia, BCR-ABL1 positive myeloid leukemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0011997 MONDO:0019312 True Hermansky-Pudlak syndrome 2 Hermansky-Pudlak syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS MONDO:0011999 MONDO:0005349 True otosclerosis 3 otosclerosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0012000 MONDO:0003699 True specific phobia phobic disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0012002 MONDO:0019588 True autosomal recessive nonsyndromic hearing loss 40 hearing loss, autosomal recessive UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0012003 MONDO:0019588 True autosomal recessive nonsyndromic hearing loss 39 hearing loss, autosomal recessive UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0012000 MONDO:0003699 True specific phobia phobic disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0012002 MONDO:0019588 True autosomal recessive nonsyndromic hearing loss 40 hearing loss, autosomal recessive UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0012003 MONDO:0019588 True autosomal recessive nonsyndromic hearing loss 39 hearing loss, autosomal recessive UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS MONDO:0012004 MONDO:0004970 True parathyroid gland carcinoma adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0012004 MONDO:0021311 True parathyroid gland carcinoma malignant tumor of parathyroid gland UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012008 MONDO:0019287 True Lelis syndrome ectodermal dysplasia syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING -MONDO:0012012 MONDO:0019548 True Charcot-Marie-Tooth disease dominant intermediate C autosomal dominant intermediate Charcot-Marie-Tooth disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012013 MONDO:0018096 True Weill-Marchesani syndrome 2, dominant Weill-Marchesani syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0012014 MONDO:0017058 True Charcot-Marie-Tooth disease recessive intermediate A autosomal recessive intermediate Charcot-Marie-Tooth disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012015 MONDO:0005712 True nystagmus 3, congenital, autosomal dominant congenital nystagmus UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0012016 MONDO:0016231 True capillary malformation-arteriovenous malformation syndrome capillary malformation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012019 MONDO:0016761 True spondyloepiphyseal dysplasia, Kimberley type spondyloepiphyseal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0012020 MONDO:0016972 True chromosome 22q11.2 microduplication syndrome partial duplication of the long arm of chromosome 22 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012015 MONDO:0005712 True nystagmus 3, congenital, autosomal dominant congenital nystagmus UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0012016 MONDO:0003847 True capillary malformation-arteriovenous malformation syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012021 MONDO:0001384 True myopia 17, autosomal dominant myopia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0012022 MONDO:0000358 True orofacial cleft 4 orofacial cleft UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0012023 MONDO:0019587 True autosomal dominant nonsyndromic hearing loss 49 autosomal dominant nonsyndromic hearing loss UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0012024 MONDO:0019200 True retinitis pigmentosa 26 retinitis pigmentosa UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0012030 MONDO:0019587 True autosomal dominant nonsyndromic hearing loss 43 autosomal dominant nonsyndromic hearing loss UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0012031 MONDO:0000009 True platelet-type bleeding disorder 10 inherited bleeding disorder, platelet-type UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0012032 MONDO:0015161 True Braddock syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012033 MONDO:0003847 True bradyopsia hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0012033 MONDO:0005283 True bradyopsia retinal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0012034 MONDO:0015151 True autosomal dominant limb-girdle muscular dystrophy type 1F muscular dystrophy, limb-girdle, autosomal dominant UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0012035 MONDO:0015338 True craniosynostosis-intracranial calcifications syndrome syndromic craniosynostosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012037 MONDO:0019502 True intellectual disability, autosomal recessive 3 autosomal recessive non-syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0012040 MONDO:0005265 True inflammatory bowel disease 9 inflammatory bowel disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0012041 MONDO:0006025 True familial adenomatous polyposis 2 autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0012041 MONDO:0016362 True familial adenomatous polyposis 2 attenuated familial adenomatous polyposis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012041 MONDO:0021055 True familial adenomatous polyposis 2 classic familial adenomatous polyposis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0012043 MONDO:0000764 True Reis-Bucklers corneal dystrophy epithelial-stromal TGFBI dystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0012043 MONDO:0020212 True Reis-Bucklers corneal dystrophy superficial corneal dystrophy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012022 MONDO:0000358 True orofacial cleft 4 orofacial cleft UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0012023 MONDO:0019587 True autosomal dominant nonsyndromic hearing loss 49 autosomal dominant nonsyndromic hearing loss UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0012024 MONDO:0019200 True retinitis pigmentosa 26 retinitis pigmentosa UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0012030 MONDO:0019587 True autosomal dominant nonsyndromic hearing loss 43 autosomal dominant nonsyndromic hearing loss UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0012031 MONDO:0000009 True platelet-type bleeding disorder 10 inherited bleeding disorder, platelet-type UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0012034 MONDO:0015151 True autosomal dominant limb-girdle muscular dystrophy type 1F muscular dystrophy, limb-girdle, autosomal dominant UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0012037 MONDO:0019502 True intellectual disability, autosomal recessive 3 autosomal recessive non-syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0012040 MONDO:0005265 True inflammatory bowel disease 9 inflammatory bowel disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0012041 MONDO:0021055 True familial adenomatous polyposis 2 classic familial adenomatous polyposis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS MONDO:0012045 MONDO:0001384 True myopia 5, autosomal dominant myopia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0012048 MONDO:0002009 True endogenous depression major depressive disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0012049 MONDO:0015375 True orofaciodigital syndrome VII orofaciodigital syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0012052 MONDO:0005500 True ALG1-congenital disorder of glycosylation congenital disorder of glycosylation type I UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0012052 MONDO:0017740 True ALG1-congenital disorder of glycosylation disorder of protein N-glycosylation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012053 MONDO:0016483 True aneurysm, intracranial berry, 2 intracranial berry aneurysm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0012054 MONDO:0005090 True schizophrenia 12 schizophrenia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED -MONDO:0012055 MONDO:0018230 True Larsen-like osseous dysplasia-short stature syndrome skeletal dysplasia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012056 MONDO:0018998 True Leber congenital amaurosis 9 Leber congenital amaurosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0012060 MONDO:0019588 True autosomal recessive nonsyndromic hearing loss 35 hearing loss, autosomal recessive UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0012049 MONDO:0015375 True orofaciodigital syndrome VII orofaciodigital syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0012052 MONDO:0005500 True ALG1-congenital disorder of glycosylation congenital disorder of glycosylation type I UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0012053 MONDO:0016483 True aneurysm, intracranial berry, 2 intracranial berry aneurysm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0012056 MONDO:0018998 True Leber congenital amaurosis 9 Leber congenital amaurosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0012060 MONDO:0019588 True autosomal recessive nonsyndromic hearing loss 35 hearing loss, autosomal recessive UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS MONDO:0012062 MONDO:0016333 True dilated cardiomyopathy 1O familial dilated cardiomyopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0012063 MONDO:0019054 True ulnar/fibula ray defect-brachydactyly syndrome congenital limb malformation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012064 MONDO:0015161 True choanal atresia-hearing loss-cardiac defects-craniofacial dysmorphism syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012066 MONDO:0018054 True atrial fibrillation, familial, 1 familial atrial fibrillation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0012069 MONDO:0015486 True keratoconus 3 keratoconus UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0012071 MONDO:0006536 True congenital generalized lipodystrophy type 1 congenital generalized lipodystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0012072 MONDO:0020088 True familial partial lipodystrophy, Kobberling type familial partial lipodystrophy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0012073 MONDO:0019046 True ribose-5-P isomerase deficiency leukodystrophy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING -MONDO:0012073 MONDO:0019231 True ribose-5-P isomerase deficiency inborn disorder of pentose phosphate metabolism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012074 MONDO:0016584 True mandibuloacral dysplasia with type B lipodystrophy mandibuloacral dysplasia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0012071 MONDO:0006536 True congenital generalized lipodystrophy type 1 congenital generalized lipodystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0012072 MONDO:0020088 True familial partial lipodystrophy, Kobberling type familial partial lipodystrophy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0012074 MONDO:0016584 True mandibuloacral dysplasia with type B lipodystrophy mandibuloacral dysplasia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS MONDO:0012077 MONDO:0005144 True amyotrophic lateral sclerosis type 8 familial amyotrophic lateral sclerosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0012078 MONDO:0018772 True Joubert syndrome 3 Joubert syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0012078 MONDO:0018772 True Joubert syndrome 3 Joubert syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS MONDO:0012079 MONDO:0100440 True asperger syndrome, susceptibility to, 2 Asperger syndrome, susceptibility to UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0012080 MONDO:0015352 True neuronopathy, distal hereditary motor, type 2B distal hereditary motor neuropathy type 2 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0012081 MONDO:0016965 True 15q11q13 microduplication syndrome partial duplication of the long arm of chromosome 15 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012082 MONDO:0100440 True asperger syndrome, susceptibility to, 1 Asperger syndrome, susceptibility to UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0012083 MONDO:0019587 True autosomal dominant nonsyndromic hearing loss 28 autosomal dominant nonsyndromic hearing loss UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0012084 MONDO:0017759 True aromatic L-amino acid decarboxylase deficiency disorder of catecholamine synthesis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012085 MONDO:0016575 True primary ciliary dyskinesia 3 primary ciliary dyskinesia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0012086 MONDO:0019587 True autosomal dominant nonsyndromic hearing loss 31 autosomal dominant nonsyndromic hearing loss UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0012087 MONDO:0016575 True primary ciliary dyskinesia 4 primary ciliary dyskinesia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0012088 MONDO:0016575 True primary ciliary dyskinesia 5 primary ciliary dyskinesia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0012090 MONDO:0019587 True autosomal dominant nonsyndromic hearing loss 47 autosomal dominant nonsyndromic hearing loss UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0012091 MONDO:0019588 True autosomal recessive nonsyndromic hearing loss 32 hearing loss, autosomal recessive UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0012092 MONDO:0015364 True hereditary sensory and autonomic neuropathy type 5 hereditary sensory and autonomic neuropathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0012095 MONDO:0015159 True intellectual disability-brachydactyly-Pierre Robin syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012095 MONDO:0018234 True intellectual disability-brachydactyly-Pierre Robin syndrome dysostosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012095 MONDO:0019054 True intellectual disability-brachydactyly-Pierre Robin syndrome congenital limb malformation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012096 MONDO:0018993 True Charcot-Marie-Tooth disease axonal type 2L Charcot-Marie-Tooth disease type 2 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0012098 MONDO:0019792 True spinocerebellar ataxia type 20 autosomal dominant cerebellar ataxia type I UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012099 MONDO:0019236 True AICA-ribosiduria inborn disorder of purine metabolism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012103 MONDO:0019792 True spinocerebellar ataxia type 25 autosomal dominant cerebellar ataxia type I UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012104 MONDO:0020089 True acquired partial lipodystrophy acquired lipodystrophy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012105 MONDO:0005046 True granulomatosis with polyangiitis immune system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0012105 MONDO:0015492 True granulomatosis with polyangiitis anti-neutrophil cytoplasmic antibody-associated vasculitis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012106 MONDO:0016660 True microcephaly 5, primary, autosomal recessive autosomal recessive primary microcephaly UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0012110 MONDO:0015892 True growth delay due to insulin-like growth factor type 1 deficiency growth hormone insensitivity syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012111 MONDO:0024573 True hypertrophic cardiomyopathy 8 familial hypertrophic cardiomyopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0012112 MONDO:0024573 True hypertrophic cardiomyopathy 10 familial hypertrophic cardiomyopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0012116 MONDO:0019792 True spinocerebellar ataxia type 8 autosomal dominant cerebellar ataxia type I UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012117 MONDO:0005500 True ALG9-congenital disorder of glycosylation congenital disorder of glycosylation type I UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0012117 MONDO:0017740 True ALG9-congenital disorder of glycosylation disorder of protein N-glycosylation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012083 MONDO:0019587 True autosomal dominant nonsyndromic hearing loss 28 autosomal dominant nonsyndromic hearing loss UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0012085 MONDO:0016575 True primary ciliary dyskinesia 3 primary ciliary dyskinesia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0012086 MONDO:0019587 True autosomal dominant nonsyndromic hearing loss 31 autosomal dominant nonsyndromic hearing loss UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0012087 MONDO:0016575 True primary ciliary dyskinesia 4 primary ciliary dyskinesia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0012088 MONDO:0016575 True primary ciliary dyskinesia 5 primary ciliary dyskinesia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0012089 MONDO:0043905 True ichthyosis prematurity syndrome pneumonitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012090 MONDO:0019587 True autosomal dominant nonsyndromic hearing loss 47 autosomal dominant nonsyndromic hearing loss UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0012091 MONDO:0019588 True autosomal recessive nonsyndromic hearing loss 32 hearing loss, autosomal recessive UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0012092 MONDO:0015364 True hereditary sensory and autonomic neuropathy type 5 hereditary sensory and autonomic neuropathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0012104 MONDO:0027767 True acquired partial lipodystrophy partial lipodystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012105 MONDO:0002462 True granulomatosis with polyangiitis glomerulonephritis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0012106 MONDO:0016660 True microcephaly 5, primary, autosomal recessive autosomal recessive primary microcephaly UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0012111 MONDO:0024573 True hypertrophic cardiomyopathy 8 familial hypertrophic cardiomyopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0012112 MONDO:0024573 True hypertrophic cardiomyopathy 10 familial hypertrophic cardiomyopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0012117 MONDO:0005500 True ALG9-congenital disorder of glycosylation congenital disorder of glycosylation type I UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS MONDO:0012118 MONDO:0005501 True COG7-congenital disorder of glycosylation congenital disorder of glycosylation type II UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0012118 MONDO:0015327 True COG7-congenital disorder of glycosylation developmental anomaly of metabolic origin UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012118 MONDO:0017750 True COG7-congenital disorder of glycosylation defect in conserved oligomeric Golgi complex UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012119 MONDO:0100440 True asperger syndrome, susceptibility to, 3 Asperger syndrome, susceptibility to UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0012120 MONDO:0019169 True pyruvate dehydrogenase phosphatase deficiency pyruvate dehydrogenase deficiency UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0012120 MONDO:0019169 True pyruvate dehydrogenase phosphatase deficiency pyruvate dehydrogenase deficiency UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0012121 MONDO:0005349 True otosclerosis 5 otosclerosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0012122 MONDO:0016820 True moyamoya disease 3 Moyamoya disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0012123 MONDO:0005500 True congenital disorder of glycosylation type 1E congenital disorder of glycosylation type I UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0012123 MONDO:0017749 True congenital disorder of glycosylation type 1E disorder of multiple glycosylation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012124 MONDO:0020040 True sudden infant death-dysgenesis of the testes syndrome 46,XY disorder of sex development UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012125 MONDO:0017226 True hypomyelinating leukodystrophy 2 Pelizaeus-Merzbacher-like disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012126 MONDO:0018379 True familial avascular necrosis of femoral head primary avascular necrosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012126 MONDO:0018383 True familial avascular necrosis of femoral head osteonecrosis of genetic origin UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012127 MONDO:0015152 True autosomal recessive limb-girdle muscular dystrophy type 2J autosomal recessive limb-girdle muscular dystrophy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0012130 MONDO:0016108 True myofibrillar myopathy 2 autosomal dominant distal myopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012123 MONDO:0005500 True congenital disorder of glycosylation type 1E congenital disorder of glycosylation type I UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0012127 MONDO:0015152 True autosomal recessive limb-girdle muscular dystrophy type 2J autosomal recessive limb-girdle muscular dystrophy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS MONDO:0012135 MONDO:0100170 True restless legs syndrome, susceptibility to, 2 restless legs syndrome, susceptibility to UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0012136 MONDO:0015515 True carnitine palmitoyl transferase II deficiency, neonatal form carnitine palmitoyltransferase II deficiency UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012137 MONDO:0016432 True Carney complex - trismus - pseudocamptodactyly syndrome heart-hand syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012138 MONDO:0000172 True muscular dystrophy-dystroglycanopathy type B6 muscular dystrophy-dystroglycanopathy, type B UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0012139 MONDO:0031166 True macular dystrophy, retinal, 3 macular dystrophy, retinal UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0012143 MONDO:0020102 True hereditary cryohydrocytosis with reduced stomatin hereditary stomatocytosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012138 MONDO:0000172 True muscular dystrophy-dystroglycanopathy type B6 muscular dystrophy-dystroglycanopathy, type B UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS MONDO:0012145 MONDO:0005150 True macular degeneration, age-related, 3 age-related macular degeneration UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0012146 MONDO:0015541 True familial hemophagocytic lymphohistiocytosis 3 hereditary hemophagocytic lymphohistiocytosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0012154 MONDO:0001384 True myopia 6 myopia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0012155 MONDO:0002232 True choanal atresia nasal cavity disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0012158 MONDO:0015486 True keratoconus 2 keratoconus UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0012160 MONDO:0016763 True spondylometaphyseal dysplasia-cone-rod dystrophy syndrome spondylometaphyseal dysplasia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED -MONDO:0012162 MONDO:0020381 True patterned macular dystrophy 2 patterned macular dystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0012163 MONDO:0031520 True immunodeficiency 104 familial severe combined immunodeficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0012164 MONDO:0020040 True Meacham syndrome 46,XY disorder of sex development UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012165 MONDO:0015161 True BNAR syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012165 MONDO:0018751 True BNAR syndrome hereditary otorhinolaryngologic disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012166 MONDO:0100309 True autosomal dominant sensory ataxia 1 hereditary ataxia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0012162 MONDO:0020381 True patterned macular dystrophy 2 patterned macular dystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS MONDO:0012167 MONDO:0018054 True atrial fibrillation, familial, 2 familial atrial fibrillation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0012169 MONDO:0019852 True premature ovarian failure 3 inherited primary ovarian failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0012170 MONDO:0019588 True autosomal recessive nonsyndromic hearing loss 36 hearing loss, autosomal recessive UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0012172 MONDO:0002525 True mitochondrial trifunctional protein deficiency inherited lipid metabolism disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0012172 MONDO:0009637 True mitochondrial trifunctional protein deficiency inborn mitochondrial myopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0012173 MONDO:0017713 True long chain 3-hydroxyacyl-CoA dehydrogenase deficiency disorder of fatty acid oxidation and ketogenesis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012173 MONDO:0020127 True long chain 3-hydroxyacyl-CoA dehydrogenase deficiency hereditary peripheral neuropathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012175 MONDO:0005129 True cataract 28 cataract UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0012170 MONDO:0019588 True autosomal recessive nonsyndromic hearing loss 36 hearing loss, autosomal recessive UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0012172 MONDO:0002525 True mitochondrial trifunctional protein deficiency inherited lipid metabolism disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0012175 MONDO:0005129 True cataract 28 cataract UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS MONDO:0012180 MONDO:0016342 True arrhythmogenic right ventricular dysplasia 9 familial isolated arrhythmogenic right ventricular dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0012184 MONDO:0006025 True Pierson syndrome autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0012185 MONDO:0016763 True spondylometaphyseal dysplasia, A4 type spondylometaphyseal dysplasia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0012186 MONDO:0019391 True Fanconi anemia complementation group I Fanconi anemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0012187 MONDO:0019391 True Fanconi anemia complementation group J Fanconi anemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0012188 MONDO:0019262 True neuronal ceroid lipofuscinosis 9 juvenile neuronal ceroid lipofuscinosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012190 MONDO:0017610 True epidermolysis bullosa simplex 7, with nephropathy and deafness epidermolysis bullosa simplex UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0012191 MONDO:0000732 True hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 combined oxidative phosphorylation deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0012192 MONDO:0016391 True permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome neonatal diabetes mellitus UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012192 MONDO:0020022 True permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome central nervous system malformation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012193 MONDO:0015151 True autosomal dominant limb-girdle muscular dystrophy type 1G muscular dystrophy, limb-girdle, autosomal dominant UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0012194 MONDO:0016483 True aneurysm, intracranial berry, 3 intracranial berry aneurysm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0012195 MONDO:0019942 True arthrogryposis-severe scoliosis syndrome distal arthrogryposis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0012196 MONDO:0019587 True autosomal dominant auditory neuropathy 1 autosomal dominant nonsyndromic hearing loss UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED +MONDO:0012183 MONDO:0024462 True melanoma, cutaneous malignant, susceptibility to, 3 susceptibility to familial cutaneous melanoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0012185 MONDO:0016763 True spondylometaphyseal dysplasia, A4 type spondylometaphyseal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0012186 MONDO:0019391 True Fanconi anemia complementation group I Fanconi anemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0012187 MONDO:0019391 True Fanconi anemia complementation group J Fanconi anemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0012190 MONDO:0017610 True epidermolysis bullosa simplex 7, with nephropathy and deafness epidermolysis bullosa simplex UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0012191 MONDO:0000732 True hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 combined oxidative phosphorylation deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0012193 MONDO:0015151 True autosomal dominant limb-girdle muscular dystrophy type 1G muscular dystrophy, limb-girdle, autosomal dominant UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0012194 MONDO:0016483 True aneurysm, intracranial berry, 3 intracranial berry aneurysm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0012195 MONDO:0019942 True arthrogryposis-severe scoliosis syndrome distal arthrogryposis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS MONDO:0012196 MONDO:0021944 True autosomal dominant auditory neuropathy 1 auditory neuropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0012197 MONDO:0015610 True idiopathic aplastic anemia acquired aplastic anemia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012198 MONDO:0000426 True PCWH syndrome autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0012198 MONDO:0002254 True PCWH syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0012199 MONDO:0020364 True posterior polymorphous corneal dystrophy 2 posterior polymorphous corneal dystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0012200 MONDO:0020364 True posterior polymorphous corneal dystrophy 3 posterior polymorphous corneal dystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0012203 MONDO:0003847 True familial hyperthyroidism due to mutations in TSH receptor hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0012203 MONDO:0004425 True familial hyperthyroidism due to mutations in TSH receptor hyperthyroidism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0012204 MONDO:0020102 True familial pseudohyperkalemia hereditary stomatocytosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012199 MONDO:0020364 True posterior polymorphous corneal dystrophy 2 posterior polymorphous corneal dystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0012200 MONDO:0020364 True posterior polymorphous corneal dystrophy 3 posterior polymorphous corneal dystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS MONDO:0012205 MONDO:0000211 True autosomal dominant striatal neurodegeneration type 1 striatal degeneration, autosomal dominant UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0012206 MONDO:0022800 True Czech dysplasia, metatarsal type type 2 collagenopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012208 MONDO:0015947 True congenital reticular ichthyosiform erythroderma inherited ichthyosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012210 MONDO:0100246 True migraine with aura, susceptibility to, 7 migraine with or without aura, susceptibility to UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0012211 MONDO:0005500 True MPDU1-congenital disorder of glycosylation congenital disorder of glycosylation type I UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0012211 MONDO:0017749 True MPDU1-congenital disorder of glycosylation disorder of multiple glycosylation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012212 MONDO:0018954 True Loeys-Dietz syndrome 1 Loeys-Dietz syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0012213 MONDO:0015150 True hereditary spastic paraplegia 26 complex hereditary spastic paraplegia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012211 MONDO:0005500 True MPDU1-congenital disorder of glycosylation congenital disorder of glycosylation type I UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0012212 MONDO:0018954 True Loeys-Dietz syndrome 1 Loeys-Dietz syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS MONDO:0012214 MONDO:0008733 True glucocorticoid deficiency 3 familial glucocorticoid deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0012215 MONDO:0015151 True myofibrillar myopathy 3 muscular dystrophy, limb-girdle, autosomal dominant UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS -MONDO:0012215 MONDO:0016108 True myofibrillar myopathy 3 autosomal dominant distal myopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012215 MONDO:0018943 True myofibrillar myopathy 3 myofibrillar myopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0012215 MONDO:0018943 True myofibrillar myopathy 3 myofibrillar myopathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS MONDO:0012216 MONDO:0044203 True foveal hypoplasia - optic nerve decussation defect - anterior segment dysgenesis syndrome foveal hypoplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0012219 MONDO:0019667 True spondyloepiphyseal dysplasia tarda, autosomal recessive, Leroy-Spranger type spondyloepiphyseal dysplasia tarda UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0012220 MONDO:0018306 True Griscelli syndrome type 3 Griscelli syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0012221 MONDO:0017779 True alpha-N-acetylgalactosaminidase deficiency type 1 alpha-N-acetylgalactosaminidase deficiency UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0012222 MONDO:0017779 True alpha-N-acetylgalactosaminidase deficiency type 2 alpha-N-acetylgalactosaminidase deficiency UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0012224 MONDO:0000032 True febrile seizures, familial, 6 febrile seizures, familial UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0012220 MONDO:0018306 True Griscelli syndrome type 3 Griscelli syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0012224 MONDO:0000032 True febrile seizures, familial, 6 febrile seizures, familial UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS MONDO:0012225 MONDO:0017842 True Senior-Loken syndrome 5 Senior-Loken syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0012226 MONDO:0000032 True febrile seizures, familial, 5 febrile seizures, familial UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0012226 MONDO:0000032 True febrile seizures, familial, 5 febrile seizures, familial UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS MONDO:0012227 MONDO:0001384 True myopia 7 myopia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0012228 MONDO:0001384 True myopia 8 myopia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0012229 MONDO:0001384 True myopia 9 myopia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0012230 MONDO:0001384 True myopia 10 myopia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0012231 MONDO:0018993 True Charcot-Marie-Tooth disease type 2A2 Charcot-Marie-Tooth disease type 2 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0012232 MONDO:0000723 True stuttering, familial persistent, 2 stutter disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0012235 MONDO:0015244 True autosomal recessive spinocerebellar ataxia 7 autosomal recessive cerebellar ataxia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0012235 MONDO:0015244 True autosomal recessive spinocerebellar ataxia 7 autosomal recessive cerebellar ataxia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS MONDO:0012236 MONDO:0015486 True keratoconus 4 keratoconus UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0012245 MONDO:0100062 True developmental and epileptic encephalopathy, 3 developmental and epileptic encephalopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0012246 MONDO:0019793 True spinocerebellar ataxia type 26 autosomal dominant cerebellar ataxia type III UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012247 MONDO:0019792 True spinocerebellar ataxia type 27 autosomal dominant cerebellar ataxia type I UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012245 MONDO:0100062 True developmental and epileptic encephalopathy, 3 developmental and epileptic encephalopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS MONDO:0012248 MONDO:0000173 True autosomal recessive limb-girdle muscular dystrophy type 2K muscular dystrophy-dystroglycanopathy, type C UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0012248 MONDO:0015152 True autosomal recessive limb-girdle muscular dystrophy type 2K autosomal recessive limb-girdle muscular dystrophy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0012248 MONDO:0016184 True autosomal recessive limb-girdle muscular dystrophy type 2K qualitative or quantitative defects of protein O-mannosyltransferase 1 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012249 MONDO:0000426 True Lynch syndrome 2 autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0012249 MONDO:0018630 True Lynch syndrome 2 hereditary nonpolyposis colon cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0012250 MONDO:0018995 True Charcot-Marie-Tooth disease type 4H Charcot-Marie-Tooth disease type 4 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0012251 MONDO:0002254 True MEDNIK syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0012251 MONDO:0017762 True MEDNIK syndrome disorder of copper metabolism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012251 MONDO:0019270 True MEDNIK syndrome erythrokeratoderma UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012252 MONDO:0016473 True rhabdoid tumor predisposition syndrome 1 familial rhabdoid tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0012253 MONDO:0016648 True multiple epiphyseal dysplasia, with severe proximal femoral dysplasia multiple epiphyseal dysplasia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING -MONDO:0012254 MONDO:0016648 True multiple epiphyseal dysplasia, with miniepiphyses multiple epiphyseal dysplasia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING -MONDO:0012256 MONDO:0015149 True hereditary spastic paraplegia 28 pure hereditary spastic paraplegia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012258 MONDO:0017610 True epidermolysis bullosa simplex 2E, with migratory circinate erythema epidermolysis bullosa simplex UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0012248 MONDO:0015152 True autosomal recessive limb-girdle muscular dystrophy type 2K autosomal recessive limb-girdle muscular dystrophy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0012249 MONDO:0018630 True Lynch syndrome 2 hereditary nonpolyposis colon cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0012252 MONDO:0016473 True rhabdoid tumor predisposition syndrome 1 familial rhabdoid tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0012258 MONDO:0017610 True epidermolysis bullosa simplex 2E, with migratory circinate erythema epidermolysis bullosa simplex UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0012261 MONDO:0020836 True autism, susceptibility to, 6 autism, susceptiblity to UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0012262 MONDO:0007614 True fibrosis of extraocular muscles, congenital, 3c congenital fibrosis of extraocular muscles UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0012262 MONDO:0007614 True fibrosis of extraocular muscles, congenital, 3c congenital fibrosis of extraocular muscles UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS MONDO:0012264 MONDO:0005081 True preeclampsia/eclampsia 2 preeclampsia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0012265 MONDO:0005081 True preeclampsia/eclampsia 3 preeclampsia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0012266 MONDO:0005081 True preeclampsia/eclampsia 4 preeclampsia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0012267 MONDO:0016296 True holoprosencephaly 8 holoprosencephaly UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0012268 MONDO:0005109 True AIDS HIV infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0012269 MONDO:0016902 True chromosome 3q29 microdeletion syndrome partial deletion of the long arm of chromosome 3 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012270 MONDO:0007614 True Tukel syndrome congenital fibrosis of extraocular muscles UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0012271 MONDO:0019530 True mesoaxial synostotic syndactyly with phalangeal reduction non-syndromic syndactyly UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012273 MONDO:0019588 True autosomal recessive nonsyndromic hearing loss 48 hearing loss, autosomal recessive UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0012274 MONDO:0019696 True acromesomelic dysplasia 3 acromesomelic dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0012275 MONDO:0002254 True fetal valproate syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0012275 MONDO:0016677 True fetal valproate syndrome toxic or drug-related embryofetopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012276 MONDO:0017704 True generalized epilepsy-paroxysmal dyskinesia syndrome familial partial epilepsy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012277 MONDO:0016108 True myofibrillar myopathy 4 autosomal dominant distal myopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012277 MONDO:0016190 True myofibrillar myopathy 4 qualitative or quantitative defects of protein ZASP UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012277 MONDO:0018943 True myofibrillar myopathy 4 myofibrillar myopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0012280 MONDO:0002254 True Goldberg-Shprintzen megacolon syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0012280 MONDO:0003847 True Goldberg-Shprintzen megacolon syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0012280 MONDO:0015159 True Goldberg-Shprintzen megacolon syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012267 MONDO:0016296 True holoprosencephaly 8 holoprosencephaly UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0012268 MONDO:0003780 True AIDS T-cell immunodeficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012270 MONDO:0007614 True Tukel syndrome congenital fibrosis of extraocular muscles UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0012273 MONDO:0019588 True autosomal recessive nonsyndromic hearing loss 48 hearing loss, autosomal recessive UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0012274 MONDO:0019696 True acromesomelic dysplasia 3 acromesomelic dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0012275 MONDO:0002254 True fetal valproate syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0012277 MONDO:0018943 True myofibrillar myopathy 4 myofibrillar myopathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS MONDO:0012285 MONDO:0018901 True left ventricular noncompaction 2 left ventricular noncompaction UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0012289 MONDO:0016189 True myofibrillar myopathy 5 qualitative or quantitative defects of filamin C UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012289 MONDO:0018943 True myofibrillar myopathy 5 myofibrillar myopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0012290 MONDO:0002254 True CEDNIK syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0012290 MONDO:0017666 True CEDNIK syndrome diffuse palmoplantar keratoderma UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012293 MONDO:0019588 True autosomal recessive nonsyndromic hearing loss 23 hearing loss, autosomal recessive UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0012297 MONDO:0015150 True SPOAN syndrome complex hereditary spastic paraplegia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012289 MONDO:0018943 True myofibrillar myopathy 5 myofibrillar myopathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0012293 MONDO:0019588 True autosomal recessive nonsyndromic hearing loss 23 hearing loss, autosomal recessive UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS MONDO:0012299 MONDO:0005514 True nanophthalmos 2 nanophthalmia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0012301 MONDO:0018158 True mitochondrial DNA depletion syndrome, myopathic form mitochondrial DNA depletion syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0012301 MONDO:0019238 True mitochondrial DNA depletion syndrome, myopathic form inborn disorder of pyrimidine metabolism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0012301 MONDO:0018158 True mitochondrial DNA depletion syndrome, myopathic form mitochondrial DNA depletion syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS MONDO:0012302 MONDO:0018953 True parietal foramina 3 parietal foramina UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0012303 MONDO:0100246 True migraine with or without aura, susceptibility to, 8 migraine with or without aura, susceptibility to UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0012304 MONDO:0015643 True photoparoxysmal response 2 photosensitive epilepsy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0012305 MONDO:0015643 True photoparoxysmal response 3 photosensitive epilepsy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0012306 MONDO:0016340 True cardiomyopathy, familial restrictive, 2 familial restrictive cardiomyopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0012307 MONDO:0015704 True familial scaphocephaly syndrome, McGillivray type familial scaphocephaly syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012308 MONDO:0018772 True Joubert syndrome with renal defect Joubert syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0012308 MONDO:0018772 True Joubert syndrome with renal defect Joubert syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS MONDO:0012309 MONDO:0018953 True parietal foramina 2 parietal foramina UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0012312 MONDO:0000453 True short QT syndrome type 1 short QT syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0012313 MONDO:0000453 True short QT syndrome type 2 short QT syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0012314 MONDO:0000453 True short QT syndrome type 3 short QT syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0012315 MONDO:0016909 True distal 10q deletion syndrome partial monosomy of the long arm of chromosome 10 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012316 MONDO:0019751 True Majeed syndrome autoinflammatory syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012320 MONDO:0000700 True migraine, familial hemiplegic, 3 familial hemiplegic migraine UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0012324 MONDO:0015161 True Frias syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012324 MONDO:0016912 True Frias syndrome partial deletion of the long arm of chromosome 14 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012326 MONDO:0019588 True autosomal recessive nonsyndromic hearing loss 42 hearing loss, autosomal recessive UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0012327 MONDO:0019588 True autosomal recessive nonsyndromic hearing loss 46 hearing loss, autosomal recessive UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0012330 MONDO:0019707 True talo-patello-scaphoid osteolysis primary osteolysis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012316 MONDO:0019751 True Majeed syndrome autoinflammatory syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012320 MONDO:0000700 True migraine, familial hemiplegic, 3 familial hemiplegic migraine UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0012326 MONDO:0019588 True autosomal recessive nonsyndromic hearing loss 42 hearing loss, autosomal recessive UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0012327 MONDO:0019588 True autosomal recessive nonsyndromic hearing loss 46 hearing loss, autosomal recessive UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS MONDO:0012331 MONDO:0100246 True migraine with aura, susceptibility to, 9 migraine with or without aura, susceptibility to UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0012333 MONDO:0019588 True autosomal recessive nonsyndromic hearing loss 53 hearing loss, autosomal recessive UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0012334 MONDO:0015087 True hereditary spastic paraplegia 29 autosomal dominant complex spastic paraplegia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012335 MONDO:0020075 True obesity due to pro-opiomelanocortin deficiency hereditary non-syndromic obesity UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012342 MONDO:0003847 True 7q11.23 microduplication syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0012342 MONDO:0016958 True 7q11.23 microduplication syndrome partial duplication of the long arm of chromosome 7 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012333 MONDO:0019588 True autosomal recessive nonsyndromic hearing loss 53 hearing loss, autosomal recessive UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS MONDO:0012343 MONDO:0007031 True aortic aneurysm, familial abdominal, 2 familial abdominal aortic aneurysm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0012345 MONDO:0019347 True acral peeling skin syndrome peeling skin syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0012346 MONDO:0018214 True generalized epilepsy with febrile seizures plus, type 4 generalized epilepsy with febrile seizures plus UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0012348 MONDO:0018911 True maturity-onset diabetes of the young type 8 maturity-onset diabetes of the young UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED -MONDO:0012351 MONDO:0008512 True zygodactyly type 1 syndactyly type 1 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS -MONDO:0012353 MONDO:0001115 True erythrocytosis, familial, 3 familial polycythemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0012354 MONDO:0000009 True platelet-type bleeding disorder 8 inherited bleeding disorder, platelet-type UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0012354 MONDO:0021181 True platelet-type bleeding disorder 8 inherited blood coagulation disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012355 MONDO:0019588 True autosomal recessive nonsyndromic hearing loss 28 hearing loss, autosomal recessive UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0012345 MONDO:0019347 True acral peeling skin syndrome peeling skin syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0012346 MONDO:0018214 True generalized epilepsy with febrile seizures plus, type 4 generalized epilepsy with febrile seizures plus UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0012353 MONDO:0001115 True erythrocytosis, familial, 3 familial polycythemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0012354 MONDO:0000009 True platelet-type bleeding disorder 8 inherited bleeding disorder, platelet-type UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0012355 MONDO:0019588 True autosomal recessive nonsyndromic hearing loss 28 hearing loss, autosomal recessive UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS MONDO:0012360 MONDO:0000045 True congenital nongoitrous hypothryoidism 3 hypothyroidism, congenital, nongoitrous UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0012362 MONDO:0016333 True dilated cardiomyopathy 1P familial dilated cardiomyopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0012363 MONDO:0019200 True retinitis pigmentosa 32 retinitis pigmentosa UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0012363 MONDO:0019200 True retinitis pigmentosa 32 retinitis pigmentosa UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS MONDO:0012364 MONDO:0016333 True dilated cardiomyopathy 1Q familial dilated cardiomyopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0012365 MONDO:0700225 True gallbladder disease 2 hereditary gallbladder disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0012366 MONDO:0700225 True gallbladder disease 3 hereditary gallbladder disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0012367 MONDO:0019200 True retinitis pigmentosa 31 retinitis pigmentosa UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0012368 MONDO:0017686 True aminoacylase 1 deficiency inborn aminoacylase deficiency UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012370 MONDO:0019588 True autosomal recessive nonsyndromic hearing loss 51 hearing loss, autosomal recessive UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0012371 MONDO:0018997 True Noonan syndrome 3 Noonan syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0012375 MONDO:0019588 True autosomal recessive nonsyndromic hearing loss 47 hearing loss, autosomal recessive UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0012376 MONDO:0019588 True autosomal recessive nonsyndromic hearing loss 55 hearing loss, autosomal recessive UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0012367 MONDO:0019200 True retinitis pigmentosa 31 retinitis pigmentosa UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0012370 MONDO:0019588 True autosomal recessive nonsyndromic hearing loss 51 hearing loss, autosomal recessive UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0012371 MONDO:0018997 True Noonan syndrome 3 Noonan syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0012375 MONDO:0019588 True autosomal recessive nonsyndromic hearing loss 47 hearing loss, autosomal recessive UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0012376 MONDO:0019588 True autosomal recessive nonsyndromic hearing loss 55 hearing loss, autosomal recessive UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS MONDO:0012377 MONDO:0100440 True asperger syndrome, susceptibility to, 4 Asperger syndrome, susceptibility to UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0012378 MONDO:0016070 True fibromatosis, gingival, 3 hereditary gingival fibromatosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0012380 MONDO:0019587 True autosomal dominant nonsyndromic hearing loss 53 autosomal dominant nonsyndromic hearing loss UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0012381 MONDO:0017182 True hyperinsulinism due to INSR deficiency familial hyperinsulinism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012382 MONDO:0015624 True hyperinsulinemic hypoglycemia, familial, 4 diazoxide-sensitive diffuse hyperinsulinism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012383 MONDO:0021094 True primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency immunodeficiency disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0012384 MONDO:0031240 True panic disorder 3 familial panic disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0012387 MONDO:0019852 True osteosclerosis-ichthyosis-premature ovarian failure syndrome inherited primary ovarian failure UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0012380 MONDO:0019587 True autosomal dominant nonsyndromic hearing loss 53 autosomal dominant nonsyndromic hearing loss UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0012383 MONDO:0021094 True primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency immunodeficiency disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0012388 MONDO:0001384 True myopia 11, autosomal dominant myopia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0012389 MONDO:0001384 True myopia 12, autosomal dominant myopia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0012391 MONDO:0020074 True neuronal ceroid lipofuscinosis 8 northern epilepsy variant progressive myoclonus epilepsy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS -MONDO:0012392 MONDO:0019215 True 2-methylbutyryl-CoA dehydrogenase deficiency classic organic aciduria UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012393 MONDO:0017352 True congenital brain dysgenesis due to glutamine synthetase deficiency disorder of glutamine metabolism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012394 MONDO:0017923 True multiple synostoses syndrome 2 multiple synostoses syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0012395 MONDO:0005129 True cataract 18 cataract UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0012396 MONDO:0015624 True exercise-induced hyperinsulinism diazoxide-sensitive diffuse hyperinsulinism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012396 MONDO:0017706 True exercise-induced hyperinsulinism disorder of carbohydrate transmembrane transport and absorption UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012399 MONDO:0000904 True complex cortical dysplasia with other brain malformations 7 complex cortical dysplasia with other brain malformations UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0012399 MONDO:0015159 True complex cortical dysplasia with other brain malformations 7 multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012400 MONDO:0003847 True cortical dysplasia-focal epilepsy syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0012401 MONDO:0020213 True congenital stromal corneal dystrophy stromal corneal dystrophy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0012405 MONDO:0011023 True polyposis syndrome, hereditary mixed, 2 hereditary mixed polyposis syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0012407 MONDO:0019237 True pyridoxal phosphate-responsive seizures inborn disorder of pyridoxine metabolism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012394 MONDO:0017923 True multiple synostoses syndrome 2 multiple synostoses syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0012395 MONDO:0005129 True cataract 18 cataract UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0012399 MONDO:0000904 True complex cortical dysplasia with other brain malformations 7 complex cortical dysplasia with other brain malformations UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0012400 MONDO:0002254 True cortical dysplasia-focal epilepsy syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0012405 MONDO:0011023 True polyposis syndrome, hereditary mixed, 2 hereditary mixed polyposis syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS MONDO:0012408 MONDO:0000170 True microphthalmia, isolated, with coloboma 3 microphthalmia, isolated, with coloboma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0012409 MONDO:0000062 True isolated microphthalmia 2 isolated microphthalmia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0012410 MONDO:0016108 True Finnish upper limb-onset distal myopathy autosomal dominant distal myopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012409 MONDO:0000062 True isolated microphthalmia 2 isolated microphthalmia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS MONDO:0012411 MONDO:0000128 True giant axonal neuropathy 2 giant axonal neuropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0012411 MONDO:0018993 True giant axonal neuropathy 2 Charcot-Marie-Tooth disease type 2 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0012413 MONDO:0016073 True syndromic microphthalmia type 5 syndromic microphthalmia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0012414 MONDO:0015674 True neuronal ceroid lipofuscinosis 10 late infantile neuronal ceroid lipofuscinosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012414 MONDO:0019260 True neuronal ceroid lipofuscinosis 10 adult neuronal ceroid lipofuscinosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012414 MONDO:0019262 True neuronal ceroid lipofuscinosis 10 juvenile neuronal ceroid lipofuscinosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012417 MONDO:0016432 True heart-hand syndrome, Slovenian type heart-hand syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012418 MONDO:0019588 True autosomal recessive nonsyndromic hearing loss 62 hearing loss, autosomal recessive UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0012419 MONDO:0005150 True age related macular degeneration 7 age-related macular degeneration UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0012420 MONDO:0019588 True autosomal recessive nonsyndromic hearing loss 49 hearing loss, autosomal recessive UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0012421 MONDO:0019588 True autosomal recessive nonsyndromic hearing loss 44 hearing loss, autosomal recessive UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0012413 MONDO:0016073 True syndromic microphthalmia type 5 syndromic microphthalmia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0012418 MONDO:0019588 True autosomal recessive nonsyndromic hearing loss 62 hearing loss, autosomal recessive UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0012419 MONDO:0005150 True age related macular degeneration 7 age-related macular degeneration UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0012420 MONDO:0019588 True autosomal recessive nonsyndromic hearing loss 49 hearing loss, autosomal recessive UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0012421 MONDO:0019588 True autosomal recessive nonsyndromic hearing loss 44 hearing loss, autosomal recessive UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS MONDO:0012425 MONDO:0005321 True corneal dystrophy, fuchs endothelial, 2 Fuchs' endothelial dystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0012427 MONDO:0018954 True Loeys-Dietz syndrome 2 Loeys-Dietz syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0012427 MONDO:0018954 True Loeys-Dietz syndrome 2 Loeys-Dietz syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS MONDO:0012429 MONDO:0018866 True Aicardi-Goutieres syndrome 2 Aicardi-Goutieres syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0012430 MONDO:0009133 True cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 2 cerebellar ataxia, intellectual disability, and dysequilibrium UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0012431 MONDO:0005711 True diaphragmatic hernia 3 congenital diaphragmatic hernia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0012432 MONDO:0018772 True Joubert syndrome 5 Joubert syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0012432 MONDO:0018772 True Joubert syndrome 5 Joubert syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS MONDO:0012433 MONDO:0017842 True Senior-Loken syndrome 6 Senior-Loken syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0012434 MONDO:0016342 True arrhythmogenic right ventricular dysplasia 10 familial isolated arrhythmogenic right ventricular dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0012435 MONDO:0017359 True 3-methylglutaconic aciduria type 5 3-methylglutaconic aciduria UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0012436 MONDO:0016391 True neonatal diabetes mellitus with congenital hypothyroidism neonatal diabetes mellitus UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0012438 MONDO:0020135 True pontocerebellar hypoplasia type 5 pontocerebellar hypoplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0012439 MONDO:0007318 True Alagille syndrome due to a NOTCH2 point mutation Alagille syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0012435 MONDO:0017359 True 3-methylglutaconic aciduria type 5 3-methylglutaconic aciduria UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0012438 MONDO:0020135 True pontocerebellar hypoplasia type 5 pontocerebellar hypoplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0012439 MONDO:0007318 True Alagille syndrome due to a NOTCH2 point mutation Alagille syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0012440 MONDO:0100246 True migraine with or without aura, susceptibility to, 10 migraine with or without aura, susceptibility to UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0012441 MONDO:0100246 True migraine with or without aura, susceptibility to, 11 migraine with or without aura, susceptibility to UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0012442 MONDO:0019588 True autosomal recessive nonsyndromic hearing loss 66 hearing loss, autosomal recessive UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0012443 MONDO:0016483 True aneurysm, intracranial berry, 4 intracranial berry aneurysm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0012445 MONDO:0019588 True autosomal recessive nonsyndromic hearing loss 59 hearing loss, autosomal recessive UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0012446 MONDO:0019268 True seborrhea-like dermatitis with psoriasiform elements epidermal disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012448 MONDO:0019064 True hereditary spastic paraplegia 33 hereditary spastic paraplegia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0012449 MONDO:0019792 True spinocerebellar ataxia type 23 autosomal dominant cerebellar ataxia type I UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012450 MONDO:0016387 True spinocerebellar ataxia type 28 mitochondrial oxidative phosphorylation disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012450 MONDO:0019792 True spinocerebellar ataxia type 28 autosomal dominant cerebellar ataxia type I UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012452 MONDO:0019588 True autosomal recessive nonsyndromic hearing loss 65 hearing loss, autosomal recessive UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0012453 MONDO:0019064 True hereditary spastic paraplegia 31 hereditary spastic paraplegia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0012455 MONDO:0015159 True Kleefstra syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012456 MONDO:0001176 True congenital primary aphakia lens disorder UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0012456 MONDO:0019503 True congenital primary aphakia anterior segment dysgenesis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0012442 MONDO:0019588 True autosomal recessive nonsyndromic hearing loss 66 hearing loss, autosomal recessive UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0012443 MONDO:0016483 True aneurysm, intracranial berry, 4 intracranial berry aneurysm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0012445 MONDO:0019588 True autosomal recessive nonsyndromic hearing loss 59 hearing loss, autosomal recessive UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0012448 MONDO:0019064 True hereditary spastic paraplegia 33 hereditary spastic paraplegia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0012452 MONDO:0019588 True autosomal recessive nonsyndromic hearing loss 65 hearing loss, autosomal recessive UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0012453 MONDO:0019064 True hereditary spastic paraplegia 31 hereditary spastic paraplegia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0012456 MONDO:0001176 True congenital primary aphakia lens disorder UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0012456 MONDO:0019503 True congenital primary aphakia anterior segment dysgenesis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS MONDO:0012457 MONDO:0100239 True pyloric stenosis, infantile hypertrophic, 2 inherited hypertrophic pyloric stenosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0012460 MONDO:0019588 True autosomal recessive nonsyndromic hearing loss 67 hearing loss, autosomal recessive UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0012463 MONDO:0019200 True retinitis pigmentosa 35 retinitis pigmentosa UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0012464 MONDO:0015993 True cone-rod dystrophy 10 cone-rod dystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0012465 MONDO:0017748 True hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency inborn disorder of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012465 MONDO:0021181 True hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency inherited blood coagulation disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012467 MONDO:0015526 True cold-induced sweating syndrome 2 cold-induced sweating syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0012460 MONDO:0019588 True autosomal recessive nonsyndromic hearing loss 67 hearing loss, autosomal recessive UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0012463 MONDO:0019200 True retinitis pigmentosa 35 retinitis pigmentosa UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0012464 MONDO:0015993 True cone-rod dystrophy 10 cone-rod dystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0012467 MONDO:0015526 True cold-induced sweating syndrome 2 cold-induced sweating syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS MONDO:0012469 MONDO:0001384 True myopia 14 myopia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0012471 MONDO:0018866 True Aicardi-Goutieres syndrome 3 Aicardi-Goutieres syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0012472 MONDO:0018866 True Aicardi-Goutieres syndrome 4 Aicardi-Goutieres syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0012474 MONDO:0000030 True autosomal dominant nocturnal frontal lobe epilepsy 4 sleep-related hypermotor epilepsy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0012474 MONDO:0020300 True autosomal dominant nocturnal frontal lobe epilepsy 4 autosomal dominant nocturnal frontal lobe epilepsy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0012475 MONDO:0000455 True cone dystrophy with supernormal rod response cone dystrophy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0012476 MONDO:0019064 True hereditary spastic paraplegia 30 hereditary spastic paraplegia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0012477 MONDO:0019200 True retinitis pigmentosa 33 retinitis pigmentosa UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0012478 MONDO:0000358 True orofacial cleft 9 orofacial cleft UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0012479 MONDO:0000824 True congenital malabsorptive diarrhea 4 congenital diarrhea UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0012481 MONDO:0017708 True mevalonic aciduria mevalonate kinase deficiency UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012483 MONDO:0015993 True cone-rod dystrophy 11 cone-rod dystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0012485 MONDO:0019588 True autosomal recessive nonsyndromic hearing loss 68 hearing loss, autosomal recessive UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0012487 MONDO:0008756 True alopecia-intellectual disability syndrome 2 alopecia - intellectual disability syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0012476 MONDO:0019064 True hereditary spastic paraplegia 30 hereditary spastic paraplegia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0012477 MONDO:0019200 True retinitis pigmentosa 33 retinitis pigmentosa UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0012478 MONDO:0000358 True orofacial cleft 9 orofacial cleft UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0012479 MONDO:0000824 True congenital malabsorptive diarrhea 4 congenital diarrhea UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0012483 MONDO:0015993 True cone-rod dystrophy 11 cone-rod dystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0012485 MONDO:0019588 True autosomal recessive nonsyndromic hearing loss 68 hearing loss, autosomal recessive UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0012487 MONDO:0008756 True alopecia-intellectual disability syndrome 2 alopecia - intellectual disability syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS MONDO:0012491 MONDO:0100280 True macroglobulinemia, Waldenstrom, 2 Waldenstrom macroglobulinemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0012492 MONDO:0100170 True restless legs syndrome, susceptibility to, 3 restless legs syndrome, susceptibility to UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0012493 MONDO:0100170 True restless legs syndrome, susceptibility to, 4 restless legs syndrome, susceptibility to UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0012495 MONDO:0100510 True spondyloepimetaphyseal dysplasia, Genevieve type spondyloepimetaphyseal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0012496 MONDO:0015159 True Koolen-de Vries syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012497 MONDO:0000426 True congenital stationary night blindness autosomal dominant 3 autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0012497 MONDO:0016293 True congenital stationary night blindness autosomal dominant 3 congenital stationary night blindness UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0012498 MONDO:0016293 True congenital stationary night blindness autosomal dominant 1 congenital stationary night blindness UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0012497 MONDO:0016293 True congenital stationary night blindness autosomal dominant 3 congenital stationary night blindness UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0012498 MONDO:0016293 True congenital stationary night blindness autosomal dominant 1 congenital stationary night blindness UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS MONDO:0012500 MONDO:0018827 True chilblain lupus 1 familial chilblain lupus UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0012502 MONDO:0018891 True normophosphatemic familial tumoral calcinosis familial tumoral calcinosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012503 MONDO:0000210 True thiopurine S-methyltransferase deficiency thiopurine metabolic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0012504 MONDO:0000429 True camptodactyly-tall stature-scoliosis-hearing loss syndrome autosomal genetic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0012504 MONDO:0019685 True camptodactyly-tall stature-scoliosis-hearing loss syndrome FGFR3-related chondrodysplasia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012505 MONDO:0015999 True pigmented nodular adrenocortical disease, primary, 2 primary pigmented nodular adrenocortical disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0012506 MONDO:0016342 True arrhythmogenic right ventricular dysplasia 11 familial isolated arrhythmogenic right ventricular dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0012507 MONDO:0000455 True retinal cone dystrophy 4 cone dystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0012508 MONDO:0015159 True agammaglobulinemia-microcephaly-craniosynostosis-severe dermatitis syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012508 MONDO:0016463 True agammaglobulinemia-microcephaly-craniosynostosis-severe dermatitis syndrome syndromic agammaglobulinemia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012509 MONDO:0015999 True pigmented nodular adrenocortical disease, primary, 1 primary pigmented nodular adrenocortical disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0012510 MONDO:0000732 True combined oxidative phosphorylation defect type 2 combined oxidative phosphorylation deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0012511 MONDO:0002263 True preterm premature rupture of the membranes female reproductive system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0012512 MONDO:0000732 True fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3 combined oxidative phosphorylation deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0012513 MONDO:0018911 True maturity-onset diabetes of the young type 7 maturity-onset diabetes of the young UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED -MONDO:0012514 MONDO:0019046 True hypomyelinating leukodystrophy 5 leukodystrophy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0012516 MONDO:0000426 True mandibulofacial dysostosis-microcephaly syndrome autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0012516 MONDO:0015159 True mandibulofacial dysostosis-microcephaly syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012516 MONDO:0018237 True mandibulofacial dysostosis-microcephaly syndrome acrofacial dysostosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0012510 MONDO:0000732 True combined oxidative phosphorylation defect type 2 combined oxidative phosphorylation deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0012512 MONDO:0000732 True fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3 combined oxidative phosphorylation deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0012514 MONDO:0019046 True hypomyelinating leukodystrophy 5 leukodystrophy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS MONDO:0012518 MONDO:0000182 True congenital myasthenic syndrome 12 congenital myasthenic syndrome with tubular aggregates UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0012521 MONDO:0006009 True herpes simplex encephalitis viral encephalitis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012523 MONDO:0019200 True retinitis pigmentosa 36 retinitis pigmentosa UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0012525 MONDO:0018998 True Leber congenital amaurosis 12 Leber congenital amaurosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0012526 MONDO:0019623 True hereditary angioedema type 3 hereditary angioedema UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0012529 MONDO:0015253 True Diamond-Blackfan anemia 3 Diamond-Blackfan anemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0012530 MONDO:0017576 True palmoplantar keratoderma-XX sex reversal-predisposition to squamous cell carcinoma syndrome 46,XX disorder of sex development UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012530 MONDO:0017666 True palmoplantar keratoderma-XX sex reversal-predisposition to squamous cell carcinoma syndrome diffuse palmoplantar keratoderma UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012531 MONDO:0019600 True xeroderma pigmentosum group B xeroderma pigmentosum UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0012520 MONDO:0001933 True insulin-resistance syndrome type A endocrine pancreas disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012521 MONDO:0006009 True herpes simplex encephalitis viral encephalitis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012523 MONDO:0019200 True retinitis pigmentosa 36 retinitis pigmentosa UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0012525 MONDO:0018998 True Leber congenital amaurosis 12 Leber congenital amaurosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0012526 MONDO:0019623 True hereditary angioedema type 3 hereditary angioedema UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0012529 MONDO:0015253 True Diamond-Blackfan anemia 3 Diamond-Blackfan anemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0012531 MONDO:0019600 True xeroderma pigmentosum group B xeroderma pigmentosum UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0012532 MONDO:0019180 True hereditary hemorrhagic telangiectasia type 4 hereditary hemorrhagic telangiectasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0012533 MONDO:0020836 True autism, susceptibility to, 7 autism, susceptiblity to UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0012534 MONDO:0000732 True combined oxidative phosphorylation defect type 4 combined oxidative phosphorylation deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0012539 MONDO:0018772 True Joubert syndrome 6 Joubert syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0012540 MONDO:0005150 True age related macular degeneration 4 age-related macular degeneration UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0012544 MONDO:0000429 True brachydactyly-syndactyly syndrome autosomal genetic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0012545 MONDO:0015611 True neutral lipid storage myopathy neutral lipid storage disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012547 MONDO:0018997 True Noonan syndrome 4 Noonan syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0012548 MONDO:0015356 True Kostmann syndrome hereditary neoplastic syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012548 MONDO:0028226 True Kostmann syndrome autosomal recessive severe congenital neutropenia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012549 MONDO:0015244 True autosomal recessive ataxia, Beauce type autosomal recessive cerebellar ataxia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0012534 MONDO:0000732 True combined oxidative phosphorylation defect type 4 combined oxidative phosphorylation deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0012539 MONDO:0018772 True Joubert syndrome 6 Joubert syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0012540 MONDO:0005150 True age related macular degeneration 4 age-related macular degeneration UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0012547 MONDO:0018997 True Noonan syndrome 4 Noonan syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0012549 MONDO:0015244 True autosomal recessive ataxia, Beauce type autosomal recessive cerebellar ataxia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS MONDO:0012551 MONDO:0000005 True alopecia areata 2 alopecia, isolated UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0012552 MONDO:0000426 True multiple endocrine neoplasia type 4 autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0012552 MONDO:0017169 True multiple endocrine neoplasia type 4 multiple endocrine neoplasia UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0012553 MONDO:0008926 True cerebrooculofacioskeletal syndrome 2 COFS syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0012554 MONDO:0008926 True cerebrooculofacioskeletal syndrome 4 COFS syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0012555 MONDO:0016033 True Cornelia de Lange syndrome 3 Cornelia de Lange syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0012556 MONDO:0005500 True DK1-congenital disorder of glycosylation congenital disorder of glycosylation type I UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0012556 MONDO:0016333 True DK1-congenital disorder of glycosylation familial dilated cardiomyopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING -MONDO:0012556 MONDO:0017749 True DK1-congenital disorder of glycosylation disorder of multiple glycosylation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012557 MONDO:0016801 True cardiomyopathy-hypotonia-lactic acidosis syndrome mitochondrial substrate carrier disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012559 MONDO:0015134 True primary immunodeficiency syndrome due to p14 deficiency constitutional neutropenia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012561 MONDO:0019719 True congenital anomalies of kidney and urinary tract 1 congenital anomaly of kidney and urinary tract UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0012562 MONDO:0016296 True holoprosencephaly 7 holoprosencephaly UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0012565 MONDO:0019391 True Fanconi anemia complementation group N Fanconi anemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0012552 MONDO:0017169 True multiple endocrine neoplasia type 4 multiple endocrine neoplasia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0012553 MONDO:0008926 True cerebrooculofacioskeletal syndrome 2 COFS syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0012554 MONDO:0008926 True cerebrooculofacioskeletal syndrome 4 COFS syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0012555 MONDO:0016033 True Cornelia de Lange syndrome 3 Cornelia de Lange syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0012556 MONDO:0005500 True DK1-congenital disorder of glycosylation congenital disorder of glycosylation type I UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0012561 MONDO:0019719 True congenital anomalies of kidney and urinary tract 1 congenital anomaly of kidney and urinary tract UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0012562 MONDO:0016296 True holoprosencephaly 7 holoprosencephaly UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0012565 MONDO:0019391 True Fanconi anemia complementation group N Fanconi anemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS MONDO:0012566 MONDO:0020836 True autism, susceptibility to, 11 autism, susceptiblity to UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0012567 MONDO:0020836 True autism, susceptibility to, 12 autism, susceptiblity to UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0012569 MONDO:0008004 True mitral valve prolapse, myxomatous 3 familial mitral valve prolapse UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0012571 MONDO:0016575 True primary ciliary dyskinesia 6 primary ciliary dyskinesia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0012571 MONDO:0016575 True primary ciliary dyskinesia 6 primary ciliary dyskinesia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS MONDO:0012573 MONDO:0017329 True vesicoureteral reflux 2 familial vesicoureteral reflux UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0012574 MONDO:0003847 True Potocki-Lupski syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0012574 MONDO:0016950 True Potocki-Lupski syndrome partial duplication of the short arm of chromosome 17 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012575 MONDO:0007029 True branchiootorenal syndrome 2 branchio-oto-renal syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0012574 MONDO:0002254 True Potocki-Lupski syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0012578 MONDO:0020836 True autism, susceptibility to, 13 autism, susceptiblity to UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0012582 MONDO:0012580 True interstitial lung disease due to ABCA3 deficiency hereditary pulmonary alveolar proteinosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0012583 MONDO:0005486 True tooth agenesis, selective, 5 tooth agenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0012588 MONDO:0015674 True neuronal ceroid lipofuscinosis 7 late infantile neuronal ceroid lipofuscinosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012588 MONDO:0016295 True neuronal ceroid lipofuscinosis 7 neuronal ceroid lipofuscinosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0012589 MONDO:0002254 True Pitt-Hopkins syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0012589 MONDO:0003847 True Pitt-Hopkins syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0012589 MONDO:0015159 True Pitt-Hopkins syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012590 MONDO:0002254 True XFE progeroid syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0012590 MONDO:0003847 True XFE progeroid syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0012594 MONDO:0003832 True complement factor I deficiency complement deficiency UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0012596 MONDO:0018162 True PSAT deficiency neurometabolic disorder due to serine deficiency UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012588 MONDO:0016295 True neuronal ceroid lipofuscinosis 7 neuronal ceroid lipofuscinosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0012589 MONDO:0002254 True Pitt-Hopkins syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0012590 MONDO:0002254 True XFE progeroid syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0012598 MONDO:0016070 True fibromatosis, gingival, 4 hereditary gingival fibromatosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0012600 MONDO:0020836 True autism, susceptibility to, 9 autism, susceptiblity to UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0012601 MONDO:0020836 True autism, susceptibility to, 10 autism, susceptiblity to UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0012602 MONDO:0019588 True autosomal recessive nonsyndromic hearing loss 24 hearing loss, autosomal recessive UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0012602 MONDO:0019588 True autosomal recessive nonsyndromic hearing loss 24 hearing loss, autosomal recessive UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS MONDO:0012603 MONDO:0044202 True episodic kinesigenic dyskinesia 2 episodic kinesigenic dyskinesia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0012604 MONDO:0000062 True isolated microphthalmia 3 isolated microphthalmia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0012605 MONDO:0000062 True isolated microphthalmia 5 isolated microphthalmia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0012608 MONDO:0001516 True neuronopathy, distal hereditary motor, autosomal recessive 4 spinal muscular atrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0012608 MONDO:0015363 True neuronopathy, distal hereditary motor, autosomal recessive 4 neuronopathy, distal hereditary motor, autosomal recessive UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0012610 MONDO:0005265 True inflammatory bowel disease 10 inflammatory bowel disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0012611 MONDO:0015653 True polyhydramnios, megalencephaly, and symptomatic epilepsy monogenic epilepsy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012612 MONDO:0019502 True intellectual disability, autosomal recessive 12 autosomal recessive non-syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0012613 MONDO:0019502 True intellectual disability, autosomal recessive 5 autosomal recessive non-syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0012614 MONDO:0019502 True intellectual disability, autosomal recessive 6 autosomal recessive non-syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0012615 MONDO:0019502 True intellectual disability, autosomal recessive 7 autosomal recessive non-syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0012617 MONDO:0019502 True intellectual disability, autosomal recessive 9 autosomal recessive non-syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0012618 MONDO:0019502 True intellectual disability, autosomal recessive 10 autosomal recessive non-syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0012619 MONDO:0019502 True intellectual disability, autosomal recessive 11 autosomal recessive non-syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0012621 MONDO:0016913 True deafness-infertility syndrome partial deletion of the long arm of chromosome 15 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012622 MONDO:0016387 True leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome mitochondrial oxidative phosphorylation disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012622 MONDO:0019046 True leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome leukodystrophy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING -MONDO:0012623 MONDO:0019502 True intellectual disability, autosomal recessive 4 autosomal recessive non-syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0012625 MONDO:0019200 True retinitis pigmentosa 37 retinitis pigmentosa UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0012626 MONDO:0018921 True Meckel syndrome, type 4 Meckel syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0012635 MONDO:0005501 True COG8-congenital disorder of glycosylation congenital disorder of glycosylation type II UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0012635 MONDO:0017750 True COG8-congenital disorder of glycosylation defect in conserved oligomeric Golgi complex UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012604 MONDO:0000062 True isolated microphthalmia 3 isolated microphthalmia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0012605 MONDO:0000062 True isolated microphthalmia 5 isolated microphthalmia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0012610 MONDO:0005265 True inflammatory bowel disease 10 inflammatory bowel disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0012612 MONDO:0019502 True intellectual disability, autosomal recessive 12 autosomal recessive non-syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0012613 MONDO:0019502 True intellectual disability, autosomal recessive 5 autosomal recessive non-syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0012614 MONDO:0019502 True intellectual disability, autosomal recessive 6 autosomal recessive non-syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0012615 MONDO:0019502 True intellectual disability, autosomal recessive 7 autosomal recessive non-syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0012617 MONDO:0019502 True intellectual disability, autosomal recessive 9 autosomal recessive non-syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0012618 MONDO:0019502 True intellectual disability, autosomal recessive 10 autosomal recessive non-syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0012619 MONDO:0019502 True intellectual disability, autosomal recessive 11 autosomal recessive non-syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0012623 MONDO:0019502 True intellectual disability, autosomal recessive 4 autosomal recessive non-syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0012625 MONDO:0019200 True retinitis pigmentosa 37 retinitis pigmentosa UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0012626 MONDO:0018921 True Meckel syndrome, type 4 Meckel syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0012635 MONDO:0005501 True COG8-congenital disorder of glycosylation congenital disorder of glycosylation type II UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS MONDO:0012636 MONDO:0100170 True restless legs syndrome, susceptibility to, 6 restless legs syndrome, susceptibility to UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0012637 MONDO:0005501 True COG1-congenital disorder of glycosylation congenital disorder of glycosylation type II UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0012637 MONDO:0015327 True COG1-congenital disorder of glycosylation developmental anomaly of metabolic origin UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012637 MONDO:0017750 True COG1-congenital disorder of glycosylation defect in conserved oligomeric Golgi complex UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012638 MONDO:0016073 True microphthalmia-brain atrophy syndrome syndromic microphthalmia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0012638 MONDO:0024237 True microphthalmia-brain atrophy syndrome inherited neurodegenerative disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012639 MONDO:0015150 True hereditary spastic paraplegia 18 complex hereditary spastic paraplegia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012640 MONDO:0018995 True Charcot-Marie-Tooth disease type 4J Charcot-Marie-Tooth disease type 4 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0012637 MONDO:0005501 True COG1-congenital disorder of glycosylation congenital disorder of glycosylation type II UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0012638 MONDO:0016073 True microphthalmia-brain atrophy syndrome syndromic microphthalmia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS MONDO:0012641 MONDO:0100170 True restless legs syndrome, susceptibility to, 5 restless legs syndrome, susceptibility to UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0012643 MONDO:0015150 True hereditary spastic paraplegia 32 complex hereditary spastic paraplegia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012644 MONDO:0018770 True asphyxiating thoracic dystrophy 2 Jeune syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0012648 MONDO:0019215 True isobutyryl-CoA dehydrogenase deficiency classic organic aciduria UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012650 MONDO:0031520 True Cernunnos-XLF deficiency familial severe combined immunodeficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0012651 MONDO:0015150 True spastic ataxia 2 complex hereditary spastic paraplegia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012651 MONDO:0017845 True spastic ataxia 2 spastic ataxia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0012652 MONDO:0015152 True autosomal recessive limb-girdle muscular dystrophy type 2L autosomal recessive limb-girdle muscular dystrophy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0012644 MONDO:0018770 True asphyxiating thoracic dystrophy 2 Jeune syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0012651 MONDO:0017845 True spastic ataxia 2 spastic ataxia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0012652 MONDO:0015152 True autosomal recessive limb-girdle muscular dystrophy type 2L autosomal recessive limb-girdle muscular dystrophy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS MONDO:0012653 MONDO:0019631 True persistent hyperplastic primary vitreous, autosomal dominant persistent hyperplastic primary vitreous UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0012654 MONDO:0006664 True atrial septal defect 4 atrial septal defect UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0012656 MONDO:0015161 True lethal congenital contracture syndrome 3 multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012656 MONDO:0017436 True lethal congenital contracture syndrome 3 lethal congenital contracture syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0012658 MONDO:0019676 True brachydactyly type B2 brachydactyly type B UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012659 MONDO:0005150 True age related macular degeneration 9 age-related macular degeneration UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0012662 MONDO:0016484 True Usher syndrome type 2D Usher syndrome type 2 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0012664 MONDO:0016387 True spastic ataxia 3 mitochondrial oxidative phosphorylation disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012664 MONDO:0017847 True spastic ataxia 3 autosomal recessive spastic ataxia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012654 MONDO:0006664 True atrial septal defect 4 atrial septal defect UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0012656 MONDO:0017436 True lethal congenital contracture syndrome 3 lethal congenital contracture syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0012659 MONDO:0005150 True age related macular degeneration 9 age-related macular degeneration UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS MONDO:0012667 MONDO:0016333 True dilated cardiomyopathy 1W familial dilated cardiomyopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0012669 MONDO:0019289 True Legius syndrome hyperpigmentation of the skin UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012670 MONDO:0019588 True autosomal recessive nonsyndromic hearing loss 63 hearing loss, autosomal recessive UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0012671 MONDO:0003233 True tremor, hereditary essential, 3 essential tremor UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0012670 MONDO:0019588 True autosomal recessive nonsyndromic hearing loss 63 hearing loss, autosomal recessive UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0012671 MONDO:0003233 True tremor, hereditary essential, 3 essential tremor UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS MONDO:0012672 MONDO:0700225 True cholelithiasis hereditary gallbladder disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0012674 MONDO:0005150 True age related macular degeneration 10 age-related macular degeneration UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0012675 MONDO:0003847 True corticosteroid-binding globulin deficiency hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0012675 MONDO:0005495 True corticosteroid-binding globulin deficiency adrenal gland disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0012674 MONDO:0005150 True age related macular degeneration 10 age-related macular degeneration UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS MONDO:0012676 MONDO:0019026 True autosomal recessive osteopetrosis 4 autosomal recessive osteopetrosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0012677 MONDO:0018054 True atrial fibrillation, familial, 4 familial atrial fibrillation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0012678 MONDO:0018054 True atrial fibrillation, familial, 5 familial atrial fibrillation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0012679 MONDO:0019026 True autosomal recessive osteopetrosis 6 autosomal recessive osteopetrosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0012680 MONDO:0019005 True nephronophthisis 7 nephronophthisis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0012681 MONDO:0000032 True febrile seizures, familial, 7 febrile seizures, familial UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0012682 MONDO:0015979 True immunodeficiency 35 hereditary predisposition to infections UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012683 MONDO:0016387 True pontocerebellar hypoplasia type 6 mitochondrial oxidative phosphorylation disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012683 MONDO:0020135 True pontocerebellar hypoplasia type 6 pontocerebellar hypoplasia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0012680 MONDO:0019005 True nephronophthisis 7 nephronophthisis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0012681 MONDO:0000032 True febrile seizures, familial, 7 febrile seizures, familial UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0012683 MONDO:0020135 True pontocerebellar hypoplasia type 6 pontocerebellar hypoplasia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS MONDO:0012684 MONDO:0016342 True arrhythmogenic right ventricular dysplasia 12 familial isolated arrhythmogenic right ventricular dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0012689 MONDO:0019852 True premature ovarian failure 5 inherited primary ovarian failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0012690 MONDO:0018997 True Noonan syndrome 5 Noonan syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0012691 MONDO:0007893 True LEOPARD syndrome 2 Noonan syndrome with multiple lentigines UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0012693 MONDO:0002412 True glycogen storage disease due to muscle and heart glycogen synthase deficiency disorder of glycogen metabolism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0012694 MONDO:0018772 True Joubert syndrome 7 Joubert syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0012695 MONDO:0018921 True Meckel syndrome, type 5 Meckel syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0012690 MONDO:0018997 True Noonan syndrome 5 Noonan syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0012691 MONDO:0007893 True LEOPARD syndrome 2 Noonan syndrome with multiple lentigines UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0012694 MONDO:0018772 True Joubert syndrome 7 Joubert syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0012695 MONDO:0018921 True Meckel syndrome, type 5 Meckel syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS MONDO:0012696 MONDO:0005349 True otosclerosis 4 otosclerosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0012697 MONDO:0005349 True otosclerosis 7 otosclerosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0012699 MONDO:0000173 True autosomal recessive limb-girdle muscular dystrophy type 2M muscular dystrophy-dystroglycanopathy, type C UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0012699 MONDO:0015152 True autosomal recessive limb-girdle muscular dystrophy type 2M autosomal recessive limb-girdle muscular dystrophy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0012699 MONDO:0016333 True autosomal recessive limb-girdle muscular dystrophy type 2M familial dilated cardiomyopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING -MONDO:0012700 MONDO:0015827 True renal tubular acidosis, distal, 4, with hemolytic anemia distal renal tubular acidosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0012701 MONDO:0005129 True cataract 12 multiple types cataract UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0012699 MONDO:0015152 True autosomal recessive limb-girdle muscular dystrophy type 2M autosomal recessive limb-girdle muscular dystrophy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0012700 MONDO:0015827 True renal tubular acidosis, distal, 4, with hemolytic anemia distal renal tubular acidosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0012701 MONDO:0005129 True cataract 12 multiple types cataract UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS MONDO:0012704 MONDO:0016333 True dilated cardiomyopathy 1X familial dilated cardiomyopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0012705 MONDO:0005115 True familial temporal lobe epilepsy 3 temporal lobe epilepsy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0012706 MONDO:0005115 True familial temporal lobe epilepsy 4 temporal lobe epilepsy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0012707 MONDO:0000032 True familial febrile seizures 9 febrile seizures, familial UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0012705 MONDO:0005115 True familial temporal lobe epilepsy 3 temporal lobe epilepsy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0012706 MONDO:0005115 True familial temporal lobe epilepsy 4 temporal lobe epilepsy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0012707 MONDO:0000032 True familial febrile seizures 9 febrile seizures, familial UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS MONDO:0012709 MONDO:0000170 True microphthalmia, isolated, with coloboma 5 microphthalmia, isolated, with coloboma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0012713 MONDO:0016763 True spondylometaphyseal dysplasia, East African type spondylometaphyseal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED -MONDO:0012714 MONDO:0016333 True early-onset myopathy with fatal cardiomyopathy familial dilated cardiomyopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING -MONDO:0012714 MONDO:0019056 True early-onset myopathy with fatal cardiomyopathy neuromuscular disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0012715 MONDO:0100246 True migraine with or without aura, susceptibility to, 12 migraine with or without aura, susceptibility to UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0012716 MONDO:0016761 True spondyloepiphyseal dysplasia, Cantu type spondyloepiphyseal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0012718 MONDO:0000732 True hypotonia with lactic acidemia and hyperammonemia combined oxidative phosphorylation deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0012721 MONDO:0016295 True progressive myoclonic epilepsy type 3 neuronal ceroid lipofuscinosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0012721 MONDO:0020074 True progressive myoclonic epilepsy type 3 progressive myoclonus epilepsy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0012723 MONDO:0018998 True Leber congenital amaurosis 10 Leber congenital amaurosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0012724 MONDO:0018768 True familial cold autoinflammatory syndrome 2 familial cold autoinflammatory syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0012725 MONDO:0015905 True lipoprotein glomerulopathy syndromic dyslipidemia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012727 MONDO:0002052 True mucocutaneous lymph node syndrome lymphadenitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0012727 MONDO:0018882 True mucocutaneous lymph node syndrome vasculitis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0012728 MONDO:0015263 True Brugada syndrome 2 Brugada syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0012729 MONDO:0001115 True erythrocytosis, familial, 4 familial polycythemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0012718 MONDO:0000732 True hypotonia with lactic acidemia and hyperammonemia combined oxidative phosphorylation deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0012721 MONDO:0016295 True progressive myoclonic epilepsy type 3 neuronal ceroid lipofuscinosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0012721 MONDO:0020074 True progressive myoclonic epilepsy type 3 progressive myoclonus epilepsy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0012723 MONDO:0018998 True Leber congenital amaurosis 10 Leber congenital amaurosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0012724 MONDO:0018768 True familial cold autoinflammatory syndrome 2 familial cold autoinflammatory syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0012727 MONDO:0018882 True mucocutaneous lymph node syndrome vasculitis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0012728 MONDO:0015263 True Brugada syndrome 2 Brugada syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0012729 MONDO:0001115 True erythrocytosis, familial, 4 familial polycythemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS MONDO:0012730 MONDO:0019625 True aortic aneurysm, familial thoracic 6 familial thoracic aortic aneurysm and aortic dissection UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0012733 MONDO:0003004 True autosomal recessive bestrophinopathy macular degeneration UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0012733 MONDO:0019118 True autosomal recessive bestrophinopathy inherited retinal dystrophy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0012736 MONDO:0019171 True long QT syndrome 9 familial long QT syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0012737 MONDO:0019171 True long QT syndrome 10 familial long QT syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0012738 MONDO:0019171 True long QT syndrome 11 familial long QT syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0012742 MONDO:0015263 True Brugada syndrome 3 Brugada syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0012743 MONDO:0015263 True Brugada syndrome 4 Brugada syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0012742 MONDO:0015263 True Brugada syndrome 3 Brugada syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0012743 MONDO:0015263 True Brugada syndrome 4 Brugada syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS MONDO:0012744 MONDO:0018901 True dilated cardiomyopathy 1Y left ventricular noncompaction UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS MONDO:0012745 MONDO:0016333 True dilated cardiomyopathy 1Z familial dilated cardiomyopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0012746 MONDO:0016333 True dilated cardiomyopathy 2A familial dilated cardiomyopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0012748 MONDO:0016575 True primary ciliary dyskinesia 7 primary ciliary dyskinesia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0012750 MONDO:0015168 True lethal arthrogryposis-anterior horn cell disease syndrome arthrogryposis multiplex congenita UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0012748 MONDO:0016575 True primary ciliary dyskinesia 7 primary ciliary dyskinesia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS MONDO:0012751 MONDO:0007031 True aortic aneurysm, familial abdominal, 3 familial abdominal aortic aneurysm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0012752 MONDO:0016483 True aneurysm, intracranial berry, 6 intracranial berry aneurysm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0012752 MONDO:0016483 True aneurysm, intracranial berry, 6 intracranial berry aneurysm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS MONDO:0012753 MONDO:0005144 True amyotrophic lateral sclerosis type 9 familial amyotrophic lateral sclerosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0012754 MONDO:0005514 True nanophthalmos 3 nanophthalmia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0012755 MONDO:0016227 True episodic ataxia type 7 hereditary episodic ataxia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0012756 MONDO:0016894 True proximal 16p11.2 microdeletion syndrome partial deletion of the short arm of chromosome 16 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012757 MONDO:0017015 True lung fibrosis-immunodeficiency-46,XX gonadal dysgenesis syndrome primary interstitial lung disease specific to childhood UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012757 MONDO:0044200 True lung fibrosis-immunodeficiency-46,XX gonadal dysgenesis syndrome T-B+ severe combined immunodeficiency UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012759 MONDO:0015159 True camptodactyly syndrome, Guadalajara type 3 multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012759 MONDO:0018234 True camptodactyly syndrome, Guadalajara type 3 dysostosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012761 MONDO:0016954 True chromosome 3q29 microduplication syndrome partial duplication of the long arm of chromosome 3 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012762 MONDO:0017990 True catecholaminergic polymorphic ventricular tachycardia 2 catecholaminergic polymorphic ventricular tachycardia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0012764 MONDO:0015244 True RIDDLE syndrome autosomal recessive cerebellar ataxia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS -MONDO:0012765 MONDO:0019313 True lymphatic malformation 2 lymphatic malformation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0012766 MONDO:0015149 True hereditary spastic paraplegia 37 pure hereditary spastic paraplegia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012767 MONDO:0005150 True age related macular degeneration 11 age-related macular degeneration UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0012774 MONDO:0015159 True chromosome 15q13.3 microdeletion syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012774 MONDO:0016913 True chromosome 15q13.3 microdeletion syndrome partial deletion of the long arm of chromosome 15 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012755 MONDO:0016227 True episodic ataxia type 7 hereditary episodic ataxia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0012762 MONDO:0017990 True catecholaminergic polymorphic ventricular tachycardia 2 catecholaminergic polymorphic ventricular tachycardia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0012765 MONDO:0019313 True lymphatic malformation 2 lymphatic malformation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0012767 MONDO:0005150 True age related macular degeneration 11 age-related macular degeneration UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS MONDO:0012775 MONDO:0100241 True thrombocytopenia 4 inherited thrombocytopenia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0012783 MONDO:0005500 True RFT1-congenital disorder of glycosylation congenital disorder of glycosylation type I UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0012783 MONDO:0015327 True RFT1-congenital disorder of glycosylation developmental anomaly of metabolic origin UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012783 MONDO:0017740 True RFT1-congenital disorder of glycosylation disorder of protein N-glycosylation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012784 MONDO:0015244 True autosomal recessive ataxia due to ubiquinone deficiency autosomal recessive cerebellar ataxia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0012784 MONDO:0018151 True autosomal recessive ataxia due to ubiquinone deficiency coenzyme Q10 deficiency UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0012783 MONDO:0005500 True RFT1-congenital disorder of glycosylation congenital disorder of glycosylation type I UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0012784 MONDO:0015244 True autosomal recessive ataxia due to ubiquinone deficiency autosomal recessive cerebellar ataxia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0012784 MONDO:0018151 True autosomal recessive ataxia due to ubiquinone deficiency coenzyme Q10 deficiency UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS MONDO:0012785 MONDO:0100239 True pyloric stenosis, infantile hypertrophic, 3 inherited hypertrophic pyloric stenosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0012786 MONDO:0000426 True juvenile cataract-microcornea-renal glucosuria syndrome autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0012786 MONDO:0017706 True juvenile cataract-microcornea-renal glucosuria syndrome disorder of carbohydrate transmembrane transport and absorption UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012787 MONDO:0015150 True hereditary spastic paraplegia 39 complex hereditary spastic paraplegia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012787 MONDO:0018117 True hereditary spastic paraplegia 39 disorder of phospholipids, sphingolipids and fatty acids biosynthesis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012789 MONDO:0000478 True dystonia 16 multifocal dystonia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0012789 MONDO:0020065 True dystonia 16 combined dystonia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012790 MONDO:0005144 True amyotrophic lateral sclerosis type 10 familial amyotrophic lateral sclerosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0012791 MONDO:0016796 True mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria mitochondrial DNA depletion syndrome, encephalomyopathic form UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012792 MONDO:0016796 True mitochondrial DNA depletion syndrome 8a mitochondrial DNA depletion syndrome, encephalomyopathic form UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012794 MONDO:0002254 True ANE syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0012794 MONDO:0015770 True ANE syndrome congenital hypogonadotropic hypogonadism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012794 MONDO:0018762 True ANE syndrome non-acquired combined pituitary hormone deficiency UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012796 MONDO:0019200 True retinitis pigmentosa 41 retinitis pigmentosa UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0012796 MONDO:0019200 True retinitis pigmentosa 41 retinitis pigmentosa UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS MONDO:0012797 MONDO:0005349 True otosclerosis 8 otosclerosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0012799 MONDO:0024573 True hypertrophic cardiomyopathy 11 familial hypertrophic cardiomyopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0012799 MONDO:0024573 True hypertrophic cardiomyopathy 11 familial hypertrophic cardiomyopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS MONDO:0012801 MONDO:0020836 True autism, susceptibility to, 15 autism, susceptiblity to UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0012802 MONDO:0016073 True oculoauricular syndrome syndromic microphthalmia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS -MONDO:0012803 MONDO:0017706 True diarrhea-vomiting due to trehalase deficiency disorder of carbohydrate transmembrane transport and absorption UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012804 MONDO:0024573 True hypertrophic cardiomyopathy 12 familial hypertrophic cardiomyopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0012804 MONDO:0024573 True hypertrophic cardiomyopathy 12 familial hypertrophic cardiomyopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS MONDO:0012805 MONDO:0000188 True childhood onset GLUT1 deficiency syndrome 2 GLUT1 deficiency syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0012805 MONDO:0015427 True childhood onset GLUT1 deficiency syndrome 2 paroxysmal dyskinesia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012806 MONDO:0010293 True ectodermal dysplasia and immunodeficiency 2 ectodermal dysplasia and immune deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0012807 MONDO:0017610 True epidermolysis bullosa simplex 5C, with pyloric atresia epidermolysis bullosa simplex UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0012806 MONDO:0010293 True ectodermal dysplasia and immunodeficiency 2 ectodermal dysplasia and immune deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0012807 MONDO:0017610 True epidermolysis bullosa simplex 5C, with pyloric atresia epidermolysis bullosa simplex UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0012808 MONDO:0016333 True dilated cardiomyopathy 1AA familial dilated cardiomyopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0012810 MONDO:0016483 True aneurysm, intracranial berry, 7 intracranial berry aneurysm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0012811 MONDO:0016483 True aneurysm, intracranial berry, 8 intracranial berry aneurysm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0012812 MONDO:0100062 True developmental and epileptic encephalopathy, 4 developmental and epileptic encephalopathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0012813 MONDO:0019200 True retinitis pigmentosa 29 retinitis pigmentosa UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0012810 MONDO:0016483 True aneurysm, intracranial berry, 7 intracranial berry aneurysm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0012811 MONDO:0016483 True aneurysm, intracranial berry, 8 intracranial berry aneurysm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0012812 MONDO:0100062 True developmental and epileptic encephalopathy, 4 developmental and epileptic encephalopathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0012813 MONDO:0019200 True retinitis pigmentosa 29 retinitis pigmentosa UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS MONDO:0012816 MONDO:0018054 True atrial fibrillation, familial, 6 familial atrial fibrillation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0012817 MONDO:0005089 True Ewing sarcoma sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0012817 MONDO:0005089 True Ewing sarcoma sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0012817 MONDO:0021038 True Ewing sarcoma Ewing sarcoma/peripheral primitive neuroectodermal tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012818 MONDO:0018911 True maturity-onset diabetes of the young type 9 maturity-onset diabetes of the young UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED -MONDO:0012824 MONDO:0017226 True hypomyelinating leukodystrophy 4 Pelizaeus-Merzbacher-like disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012825 MONDO:0018078 True extraskeletal myxoid chondrosarcoma soft tissue sarcoma UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012825 MONDO:0018078 True extraskeletal myxoid chondrosarcoma soft tissue sarcoma UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012828 MONDO:0018054 True atrial fibrillation, familial, 7 familial atrial fibrillation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0012829 MONDO:0005265 True inflammatory bowel disease 12 inflammatory bowel disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0012830 MONDO:0016909 True chromosome 10q23 deletion syndrome partial monosomy of the long arm of chromosome 10 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012831 MONDO:0005265 True inflammatory bowel disease 13 inflammatory bowel disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0012832 MONDO:0005265 True inflammatory bowel disease 14 inflammatory bowel disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0012833 MONDO:0000426 True Crouzon syndrome-acanthosis nigricans syndrome autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0012833 MONDO:0015338 True Crouzon syndrome-acanthosis nigricans syndrome syndromic craniosynostosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012837 MONDO:0005265 True inflammatory bowel disease 15 inflammatory bowel disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0012838 MONDO:0005265 True inflammatory bowel disease 16 inflammatory bowel disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0012839 MONDO:0015979 True pyogenic bacterial infections due to MyD88 deficiency hereditary predisposition to infections UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012840 MONDO:0005265 True inflammatory bowel disease 17 inflammatory bowel disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0012841 MONDO:0005265 True inflammatory bowel disease 18 inflammatory bowel disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0012844 MONDO:0016575 True primary ciliary dyskinesia 8 primary ciliary dyskinesia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0012845 MONDO:0005265 True inflammatory bowel disease 19 inflammatory bowel disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0012846 MONDO:0018214 True generalized epilepsy with febrile seizures plus, type 6 generalized epilepsy with febrile seizures plus UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0012848 MONDO:0018921 True Meckel syndrome, type 6 Meckel syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0012849 MONDO:0018772 True Joubert syndrome 9 Joubert syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0012850 MONDO:0000079 True hypophosphatemic nephrolithiasis/osteoporosis 1 nephrolithiasis/osteoporosis, hypophosphatemic UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0012851 MONDO:0000079 True hypophosphatemic nephrolithiasis/osteoporosis 2 nephrolithiasis/osteoporosis, hypophosphatemic UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0012852 MONDO:0005265 True inflammatory bowel disease 20 inflammatory bowel disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0012853 MONDO:0015161 True Fontaine progeroid syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012853 MONDO:0019287 True Fontaine progeroid syndrome ectodermal dysplasia syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING -MONDO:0012855 MONDO:0018772 True Joubert syndrome 8 Joubert syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0012856 MONDO:0000426 True Birk-Barel syndrome autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0012858 MONDO:0020127 True primary CD59 deficiency hereditary peripheral neuropathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012829 MONDO:0005265 True inflammatory bowel disease 12 inflammatory bowel disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0012831 MONDO:0005265 True inflammatory bowel disease 13 inflammatory bowel disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0012832 MONDO:0005265 True inflammatory bowel disease 14 inflammatory bowel disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0012837 MONDO:0005265 True inflammatory bowel disease 15 inflammatory bowel disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0012838 MONDO:0005265 True inflammatory bowel disease 16 inflammatory bowel disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0012840 MONDO:0005265 True inflammatory bowel disease 17 inflammatory bowel disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0012841 MONDO:0005265 True inflammatory bowel disease 18 inflammatory bowel disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0012842 MONDO:0024462 True melanoma, cutaneous malignant, susceptibility to, 7 susceptibility to familial cutaneous melanoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0012844 MONDO:0016575 True primary ciliary dyskinesia 8 primary ciliary dyskinesia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0012845 MONDO:0005265 True inflammatory bowel disease 19 inflammatory bowel disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0012846 MONDO:0018214 True generalized epilepsy with febrile seizures plus, type 6 generalized epilepsy with febrile seizures plus UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0012848 MONDO:0018921 True Meckel syndrome, type 6 Meckel syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0012849 MONDO:0018772 True Joubert syndrome 9 Joubert syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0012850 MONDO:0000079 True hypophosphatemic nephrolithiasis/osteoporosis 1 nephrolithiasis/osteoporosis, hypophosphatemic UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0012851 MONDO:0000079 True hypophosphatemic nephrolithiasis/osteoporosis 2 nephrolithiasis/osteoporosis, hypophosphatemic UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0012852 MONDO:0005265 True inflammatory bowel disease 20 inflammatory bowel disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0012855 MONDO:0018772 True Joubert syndrome 8 Joubert syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS MONDO:0012859 MONDO:0019026 True autosomal recessive osteopetrosis 7 autosomal recessive osteopetrosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0012860 MONDO:0019145 True thrombophilia due to protein C deficiency, autosomal recessive hereditary thrombophilia due to congenital protein C deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0012861 MONDO:0019852 True premature ovarian failure 6 inherited primary ovarian failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0012864 MONDO:0016901 True chromosome 2q32-q33 deletion syndrome partial deletion of the long arm of chromosome 2 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012864 MONDO:0100147 True chromosome 2q32-q33 deletion syndrome SATB2 associated disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012866 MONDO:0019064 True hereditary spastic paraplegia 35 hereditary spastic paraplegia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0012867 MONDO:0015087 True hereditary spastic paraplegia 38 autosomal dominant complex spastic paraplegia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012868 MONDO:0000426 True thrombophilia due to protein S deficiency, autosomal dominant autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0012869 MONDO:0015802 True intellectual disability, autosomal dominant 22 autosomal dominant non-syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0012866 MONDO:0019064 True hereditary spastic paraplegia 35 hereditary spastic paraplegia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS MONDO:0012871 MONDO:0002441 True Jervell and Lange-Nielsen syndrome 2 Jervell and Lange-Nielsen syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0012872 MONDO:0100240 True thrombophilia, familial, due to decreased release of tissue plasminogen activator inherited thrombophilia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0012875 MONDO:0005265 True inflammatory bowel disease 21 inflammatory bowel disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0012875 MONDO:0005265 True inflammatory bowel disease 21 inflammatory bowel disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS MONDO:0012876 MONDO:0100240 True heparin cofactor 2 deficiency inherited thrombophilia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0012883 MONDO:0018874 True acute promyelocytic leukemia acute myeloid leukemia UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED -MONDO:0012885 MONDO:0005500 True SRD5A3-congenital disorder of glycosylation congenital disorder of glycosylation type I UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0012885 MONDO:0017749 True SRD5A3-congenital disorder of glycosylation disorder of multiple glycosylation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012886 MONDO:0005265 True inflammatory bowel disease 22 inflammatory bowel disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0012887 MONDO:0005265 True inflammatory bowel disease 23 inflammatory bowel disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0012890 MONDO:0016759 True pontocerebellar hypoplasia type 2B pontocerebellar hypoplasia type 2 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0012891 MONDO:0016759 True pontocerebellar hypoplasia type 2C pontocerebellar hypoplasia type 2 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0012892 MONDO:0019755 True bone fragility with contractures, arterial rupture, and deafness developmental defect during embryogenesis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012895 MONDO:0015990 True torsion dystonia 17 focal, segmental or multifocal dystonia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012897 MONDO:0000429 True congenital factor XI deficiency autosomal genetic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0012897 MONDO:0021181 True congenital factor XI deficiency inherited blood coagulation disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012883 MONDO:0018874 True acute promyelocytic leukemia acute myeloid leukemia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS +MONDO:0012885 MONDO:0005500 True SRD5A3-congenital disorder of glycosylation congenital disorder of glycosylation type I UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0012886 MONDO:0005265 True inflammatory bowel disease 22 inflammatory bowel disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0012887 MONDO:0005265 True inflammatory bowel disease 23 inflammatory bowel disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0012897 MONDO:0009332 True congenital factor XI deficiency congenital hematological disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012897 MONDO:0020587 True congenital factor XI deficiency factor XI deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012899 MONDO:0000005 True alopecia, androgenetic, 3 alopecia, isolated UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0012900 MONDO:0016340 True cardiomyopathy, familial restrictive, 3 familial restrictive cardiomyopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0012901 MONDO:0021181 True inherited prekallikrein deficiency inherited blood coagulation disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012902 MONDO:0019587 True autosomal dominant nonsyndromic hearing loss 27 autosomal dominant nonsyndromic hearing loss UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0012903 MONDO:0019588 True autosomal recessive nonsyndromic hearing loss 45 hearing loss, autosomal recessive UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0012904 MONDO:0020074 True epilepsy, progressive myoclonic, 1B progressive myoclonus epilepsy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0012905 MONDO:0019046 True hypomyelinating leukodystrophy 6 leukodystrophy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0012906 MONDO:0016575 True primary ciliary dyskinesia 9 primary ciliary dyskinesia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0012907 MONDO:0019755 True blindness - scoliosis - arachnodactyly syndrome developmental defect during embryogenesis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012911 MONDO:0019695 True pseudohypoparathyroidism type 1C acromelic dysplasia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012911 MONDO:0019992 True pseudohypoparathyroidism type 1C pseudohypoparathyroidism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012912 MONDO:0019695 True pseudopseudohypoparathyroidism acromelic dysplasia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012912 MONDO:0019992 True pseudopseudohypoparathyroidism pseudohypoparathyroidism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0012914 MONDO:0022756 True chromosome 1q21.1 deletion syndrome chromosome 1q deletion UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012915 MONDO:0016952 True chromosome 1q21.1 duplication syndrome partial duplication of the long arm of chromosome 1 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012916 MONDO:0016884 True chromosome 2p16.1-p15 deletion syndrome partial deletion of the short arm of chromosome 2 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012902 MONDO:0019587 True autosomal dominant nonsyndromic hearing loss 27 autosomal dominant nonsyndromic hearing loss UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0012903 MONDO:0019588 True autosomal recessive nonsyndromic hearing loss 45 hearing loss, autosomal recessive UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0012904 MONDO:0020074 True epilepsy, progressive myoclonic, 1B progressive myoclonus epilepsy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0012905 MONDO:0019046 True hypomyelinating leukodystrophy 6 leukodystrophy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0012906 MONDO:0016575 True primary ciliary dyskinesia 9 primary ciliary dyskinesia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS MONDO:0012917 MONDO:0000724 True specific language impairment 4 specific language impairment UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0012918 MONDO:0016575 True primary ciliary dyskinesia 10 primary ciliary dyskinesia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0012918 MONDO:0016575 True primary ciliary dyskinesia 10 primary ciliary dyskinesia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS MONDO:0012922 MONDO:0100239 True pyloric stenosis, infantile hypertrophic, 5 inherited hypertrophic pyloric stenosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0012923 MONDO:0006536 True congenital generalized lipodystrophy type 3 congenital generalized lipodystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0012924 MONDO:0015253 True Diamond-Blackfan anemia 4 Diamond-Blackfan anemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0012925 MONDO:0015253 True Diamond-Blackfan anemia 5 Diamond-Blackfan anemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0012923 MONDO:0006536 True congenital generalized lipodystrophy type 3 congenital generalized lipodystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0012924 MONDO:0015253 True Diamond-Blackfan anemia 4 Diamond-Blackfan anemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0012925 MONDO:0015253 True Diamond-Blackfan anemia 5 Diamond-Blackfan anemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS MONDO:0012927 MONDO:0016296 True chromosome 1q41-q42 deletion syndrome holoprosencephaly UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0012927 MONDO:0022756 True chromosome 1q41-q42 deletion syndrome chromosome 1q deletion UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012928 MONDO:0015149 True hereditary spastic paraplegia 42 pure hereditary spastic paraplegia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012929 MONDO:0019952 True Compton-North congenital myopathy congenital myopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0012930 MONDO:0028226 True autosomal recessive severe congenital neutropenia due to G6PC3 deficiency autosomal recessive severe congenital neutropenia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012932 MONDO:0001384 True myopia 16, autosomal dominant myopia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0012933 MONDO:0100526 True breast-ovarian cancer, familial, susceptibility to, 2 breast-ovarian cancer, familial, susceptibility to UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0012937 MONDO:0015253 True Diamond-Blackfan anemia 6 Diamond-Blackfan anemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0012938 MONDO:0015253 True Diamond-Blackfan anemia 7 Diamond-Blackfan anemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0012939 MONDO:0015253 True Diamond-Blackfan anemia 8 Diamond-Blackfan anemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0012940 MONDO:0005265 True inflammatory bowel disease 24 inflammatory bowel disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0012943 MONDO:0019200 True retinitis pigmentosa 46 retinitis pigmentosa UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0012937 MONDO:0015253 True Diamond-Blackfan anemia 6 Diamond-Blackfan anemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0012938 MONDO:0015253 True Diamond-Blackfan anemia 7 Diamond-Blackfan anemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0012939 MONDO:0015253 True Diamond-Blackfan anemia 8 Diamond-Blackfan anemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0012940 MONDO:0005265 True inflammatory bowel disease 24 inflammatory bowel disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0012943 MONDO:0019200 True retinitis pigmentosa 46 retinitis pigmentosa UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS MONDO:0012945 MONDO:0005144 True amyotrophic lateral sclerosis type 11 familial amyotrophic lateral sclerosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0012946 MONDO:0100172 True intellectual disability, autosomal dominant 3 intellectual disability, autosomal dominant UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0012947 MONDO:0100172 True intellectual disability, autosomal dominant 4 intellectual disability, autosomal dominant UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0012948 MONDO:0015159 True chromosome 6pter-p24 deletion syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012948 MONDO:0016888 True chromosome 6pter-p24 deletion syndrome partial deletion of the short arm of chromosome 6 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012949 MONDO:0016483 True aneurysm, intracranial berry, 9 intracranial berry aneurysm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0012950 MONDO:0016483 True aneurysm, intracranial berry, 10 intracranial berry aneurysm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0012949 MONDO:0016483 True aneurysm, intracranial berry, 9 intracranial berry aneurysm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0012950 MONDO:0016483 True aneurysm, intracranial berry, 10 intracranial berry aneurysm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS MONDO:0012956 MONDO:0007462 True multiple sclerosis, susceptibility to, 2 multiple sclerosis, susceptibility to UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0012957 MONDO:0007462 True multiple sclerosis, susceptibility to, 3 multiple sclerosis, susceptibility to UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0012958 MONDO:0007462 True multiple sclerosis, susceptibility to, 4 multiple sclerosis, susceptibility to UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0012960 MONDO:0100172 True intellectual disability, autosomal dominant 5 intellectual disability, autosomal dominant UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0012962 MONDO:0000065 True microvascular complications of diabetes, susceptibility to, 2 microvascular complications of diabetes, susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0012963 MONDO:0000065 True microvascular complications of diabetes, susceptibility to, 3 microvascular complications of diabetes, susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0012964 MONDO:0016913 True chromosome 15q26-qter deletion syndrome partial deletion of the long arm of chromosome 15 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012965 MONDO:0017615 True seizures, benign familial infantile, 4 benign familial infantile epilepsy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0012965 MONDO:0017615 True seizures, benign familial infantile, 4 benign familial infantile epilepsy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS MONDO:0012966 MONDO:0000065 True microvascular complications of diabetes, susceptibility to, 4 microvascular complications of diabetes, susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0012968 MONDO:0010168 True Usher syndrome type 1H Usher syndrome type 1 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0012969 MONDO:0000065 True microvascular complications of diabetes, susceptibility to, 5 microvascular complications of diabetes, susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0012970 MONDO:0000065 True microvascular complications of diabetes, susceptibility to, 6 microvascular complications of diabetes, susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0012971 MONDO:0000065 True microvascular complications of diabetes, susceptibility to, 7 microvascular complications of diabetes, susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0012972 MONDO:0000032 True febrile seizures, familial, 10 febrile seizures, familial UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0012973 MONDO:0005265 True inflammatory bowel disease 26 inflammatory bowel disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0012974 MONDO:0019587 True autosomal dominant nonsyndromic hearing loss 59 autosomal dominant nonsyndromic hearing loss UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0012975 MONDO:0019587 True autosomal dominant nonsyndromic hearing loss 3B autosomal dominant nonsyndromic hearing loss UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0012976 MONDO:0019587 True autosomal dominant nonsyndromic hearing loss 2B autosomal dominant nonsyndromic hearing loss UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0012977 MONDO:0019588 True autosomal recessive nonsyndromic hearing loss 1B hearing loss, autosomal recessive UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0012978 MONDO:0016575 True primary ciliary dyskinesia 11 primary ciliary dyskinesia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0012979 MONDO:0016575 True primary ciliary dyskinesia 12 primary ciliary dyskinesia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0012980 MONDO:0003847 True endocrine-cerebro-osteodysplasia syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0012980 MONDO:0043009 True endocrine-cerebro-osteodysplasia syndrome hereditary lethal multiple congenital anomalies/dysmorphic syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012981 MONDO:0019350 True hereditary spherocytosis type 4 hereditary spherocytosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0012982 MONDO:0016227 True episodic ataxia type 6 hereditary episodic ataxia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0012983 MONDO:0015993 True cone-rod dystrophy 12 cone-rod dystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0012984 MONDO:0006025 True PHARC syndrome autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0012984 MONDO:0018117 True PHARC syndrome disorder of phospholipids, sphingolipids and fatty acids biosynthesis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012984 MONDO:0020127 True PHARC syndrome hereditary peripheral neuropathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012985 MONDO:0019350 True hereditary spherocytosis type 5 hereditary spherocytosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0012986 MONDO:0003847 True bilateral parasagittal parieto-occipital polymicrogyria hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0012986 MONDO:0017091 True bilateral parasagittal parieto-occipital polymicrogyria bilateral polymicrogyria UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012989 MONDO:0016660 True microcephaly 7, primary, autosomal recessive autosomal recessive primary microcephaly UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0012990 MONDO:0018998 True Leber congenital amaurosis 13 Leber congenital amaurosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0012991 MONDO:0006025 True Kahrizi syndrome autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0012992 MONDO:0016387 True pancreatic insufficiency-anemia-hyperostosis syndrome mitochondrial oxidative phosphorylation disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012972 MONDO:0000032 True febrile seizures, familial, 10 febrile seizures, familial UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0012973 MONDO:0005265 True inflammatory bowel disease 26 inflammatory bowel disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0012974 MONDO:0019587 True autosomal dominant nonsyndromic hearing loss 59 autosomal dominant nonsyndromic hearing loss UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0012975 MONDO:0019587 True autosomal dominant nonsyndromic hearing loss 3B autosomal dominant nonsyndromic hearing loss UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0012976 MONDO:0019587 True autosomal dominant nonsyndromic hearing loss 2B autosomal dominant nonsyndromic hearing loss UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0012977 MONDO:0019588 True autosomal recessive nonsyndromic hearing loss 1B hearing loss, autosomal recessive UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0012978 MONDO:0016575 True primary ciliary dyskinesia 11 primary ciliary dyskinesia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0012979 MONDO:0016575 True primary ciliary dyskinesia 12 primary ciliary dyskinesia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0012982 MONDO:0016227 True episodic ataxia type 6 hereditary episodic ataxia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0012983 MONDO:0015993 True cone-rod dystrophy 12 cone-rod dystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0012989 MONDO:0016660 True microcephaly 7, primary, autosomal recessive autosomal recessive primary microcephaly UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0012990 MONDO:0018998 True Leber congenital amaurosis 13 Leber congenital amaurosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS MONDO:0012993 MONDO:0000736 True dyschromatosis universalis hereditaria 2 dyschromatosis universalis hereditaria UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0012994 MONDO:0016812 True dopa-responsive dystonia due to sepiapterin reductase deficiency dopa-responsive dystonia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012994 MONDO:0044807 True dopa-responsive dystonia due to sepiapterin reductase deficiency inherited dystonia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0012995 MONDO:0001384 True myopia 15, autosomal dominant myopia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0012996 MONDO:0000456 True AGAT deficiency cerebral creatine deficiency syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0012999 MONDO:0000456 True guanidinoacetate methyltransferase deficiency cerebral creatine deficiency syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0013000 MONDO:0002520 True porphyria due to ALA dehydratase deficiency hepatic porphyria UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013000 MONDO:0019142 True porphyria due to ALA dehydratase deficiency inherited porphyria UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013002 MONDO:0015993 True cone-rod dystrophy 9 cone-rod dystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0013005 MONDO:0015962 True EAST syndrome inherited renal tubular disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013005 MONDO:0100309 True EAST syndrome hereditary ataxia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0013006 MONDO:0000050 True isolated growth hormone deficiency type IB isolated congenital growth hormone deficiency UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0013007 MONDO:0015695 True combined immunodeficiency due to ORAI1 deficiency combined immunodeficiency due to CRAC channel dysfunction UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013008 MONDO:0015695 True combined immunodeficiency due to STIM1 deficiency combined immunodeficiency due to CRAC channel dysfunction UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013010 MONDO:0019588 True autosomal recessive nonsyndromic hearing loss 71 hearing loss, autosomal recessive UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0013011 MONDO:0006664 True atrial septal defect 5 atrial septal defect UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0013012 MONDO:0005265 True inflammatory bowel disease 27 inflammatory bowel disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0013015 MONDO:0015263 True Brugada syndrome 5 Brugada syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0013016 MONDO:0017570 True leukocyte adhesion deficiency 3 leukocyte adhesion deficiency UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0013018 MONDO:0000136 True keratosis follicularis spinulosa decalvans, autosomal dominant keratosis follicularis spinulosa decalvans UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0013021 MONDO:0019751 True sterile multifocal osteomyelitis with periostitis and pustulosis autoinflammatory syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012996 MONDO:0000456 True AGAT deficiency cerebral creatine deficiency syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0012999 MONDO:0000456 True guanidinoacetate methyltransferase deficiency cerebral creatine deficiency syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0013002 MONDO:0015993 True cone-rod dystrophy 9 cone-rod dystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0013006 MONDO:0000050 True isolated growth hormone deficiency type IB isolated congenital growth hormone deficiency UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0013010 MONDO:0019588 True autosomal recessive nonsyndromic hearing loss 71 hearing loss, autosomal recessive UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0013011 MONDO:0006664 True atrial septal defect 5 atrial septal defect UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0013012 MONDO:0005265 True inflammatory bowel disease 27 inflammatory bowel disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0013015 MONDO:0015263 True Brugada syndrome 5 Brugada syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0013021 MONDO:0019751 True sterile multifocal osteomyelitis with periostitis and pustulosis autoinflammatory syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013022 MONDO:0100170 True restless legs syndrome, susceptibility to, 7 restless legs syndrome, susceptibility to UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0013023 MONDO:0000358 True orofacial cleft 12 orofacial cleft UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0013025 MONDO:0016905 True chromosome 6q24-q25 deletion syndrome partial deletion of the long arm of chromosome 6 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013026 MONDO:0000763 True subepithelial mucinous corneal dystrophy epithelial and subepithelial corneal dystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0013026 MONDO:0020212 True subepithelial mucinous corneal dystrophy superficial corneal dystrophy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013027 MONDO:0020213 True posterior amorphous corneal dystrophy stromal corneal dystrophy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0013028 MONDO:0009637 True adenosine monophosphate deaminase deficiency inborn mitochondrial myopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013028 MONDO:0019236 True adenosine monophosphate deaminase deficiency inborn disorder of purine metabolism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013029 MONDO:0020380 True cerebellar ataxia type 9 autosomal dominant cerebellar ataxia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0013023 MONDO:0000358 True orofacial cleft 12 orofacial cleft UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0013029 MONDO:0020380 True cerebellar ataxia type 9 autosomal dominant cerebellar ataxia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS MONDO:0013030 MONDO:0016333 True dilated cardiomyopathy 1BB familial dilated cardiomyopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0013031 MONDO:0020341 True chromosome 5Q14.3 deletion syndrome, distal periventricular nodular heterotopia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0013033 MONDO:0016215 True cerebral palsy, spastic quadriplegic, 2 spastic quadriplegic cerebral palsy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0013034 MONDO:0018865 True keratosis palmoplantaris striata 2 striate palmoplantar keratoderma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0013035 MONDO:0015375 True orofaciodigital syndrome XI orofaciodigital syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0013036 MONDO:0015159 True Zechi-Ceide syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013038 MONDO:0002254 True CLOVES syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0013038 MONDO:0019296 True CLOVES syndrome subcutaneous tissue disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0013033 MONDO:0016215 True cerebral palsy, spastic quadriplegic, 2 spastic quadriplegic cerebral palsy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0013035 MONDO:0015375 True orofaciodigital syndrome XI orofaciodigital syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS MONDO:0013039 MONDO:0007477 True 3M syndrome 2 3-M syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0013046 MONDO:0002412 True glycogen storage disease due to muscle beta-enolase deficiency disorder of glycogen metabolism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0013047 MONDO:0002412 True glycogen storage disease due to lactate dehydrogenase M-subunit deficiency disorder of glycogen metabolism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0013048 MONDO:0019064 True hereditary spastic paraplegia 50 hereditary spastic paraplegia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0013048 MONDO:0019064 True hereditary spastic paraplegia 50 hereditary spastic paraplegia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS MONDO:0013049 MONDO:0005500 True DPM3-congenital disorder of glycosylation congenital disorder of glycosylation type I UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0013049 MONDO:0016333 True DPM3-congenital disorder of glycosylation familial dilated cardiomyopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING -MONDO:0013049 MONDO:0017749 True DPM3-congenital disorder of glycosylation disorder of multiple glycosylation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013049 MONDO:0018276 True DPM3-congenital disorder of glycosylation muscular dystrophy-dystroglycanopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013050 MONDO:0043009 True lethal polymalformative syndrome, Boissel type hereditary lethal multiple congenital anomalies/dysmorphic syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013051 MONDO:0019573 True autosomal recessive cutis laxa type 2B autosomal recessive cutis laxa type 2 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013052 MONDO:0019200 True retinitis pigmentosa 42 retinitis pigmentosa UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0013053 MONDO:0015161 True microcephaly-facio-cardio-skeletal syndrome, Hadziselimovic type multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013056 MONDO:0016801 True developmental and epileptic encephalopathy, 39 mitochondrial substrate carrier disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013058 MONDO:0019046 True cystic leukoencephalopathy without megalencephaly leukodystrophy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED +MONDO:0013052 MONDO:0019200 True retinitis pigmentosa 42 retinitis pigmentosa UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS MONDO:0013059 MONDO:0018866 True Aicardi-Goutieres syndrome 5 Aicardi-Goutieres syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0013060 MONDO:0008199 True autosomal recessive Parkinson disease 14 late-onset Parkinson disease UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED -MONDO:0013060 MONDO:0017998 True autosomal recessive Parkinson disease 14 PLA2G6-associated neurodegeneration UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013061 MONDO:0018943 True myofibrillar myopathy 6 myofibrillar myopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0013061 MONDO:0018943 True myofibrillar myopathy 6 myofibrillar myopathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS MONDO:0013062 MONDO:0019171 True long QT syndrome 12 familial long QT syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0013064 MONDO:0017923 True multiple synostoses syndrome 3 multiple synostoses syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0013064 MONDO:0017923 True multiple synostoses syndrome 3 multiple synostoses syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS MONDO:0013065 MONDO:0019852 True premature ovarian failure 7 inherited primary ovarian failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0013066 MONDO:0010765 True 46,XY sex reversal 3 46,XY complete gonadal dysgenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0013067 MONDO:0005129 True cataract 34 multiple types cataract UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0013069 MONDO:0016387 True autosomal recessive optic atrophy, OPA7 type mitochondrial oxidative phosphorylation disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0013066 MONDO:0010765 True 46,XY sex reversal 3 46,XY complete gonadal dysgenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0013067 MONDO:0005129 True cataract 34 multiple types cataract UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS MONDO:0013069 MONDO:0043878 True autosomal recessive optic atrophy, OPA7 type hereditary optic atrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0013070 MONDO:0004983 True spermatogenic failure 7 spermatogenic failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0013070 MONDO:0004983 True spermatogenic failure 7 spermatogenic failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS MONDO:0013074 MONDO:0006574 True encephalocraniocutaneous lipomatosis lipomatosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013074 MONDO:0019296 True encephalocraniocutaneous lipomatosis subcutaneous tissue disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013079 MONDO:0005388 True primary biliary cholangitis 2 primary biliary cholangitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0013080 MONDO:0005388 True primary biliary cholangitis 3 primary biliary cholangitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0013081 MONDO:0016537 True lymphoproliferative syndrome 1 lymphoproliferative syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0013090 MONDO:0015159 True chromosome 19q13.11 deletion syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013090 MONDO:0016917 True chromosome 19q13.11 deletion syndrome partial deletion of the long arm of chromosome 19 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0013079 MONDO:0005388 True primary biliary cholangitis 2 primary biliary cholangitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0013080 MONDO:0005388 True primary biliary cholangitis 3 primary biliary cholangitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0013081 MONDO:0016537 True lymphoproliferative syndrome 1 lymphoproliferative syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0013081 MONDO:0021094 True lymphoproliferative syndrome 1 immunodeficiency disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0013092 MONDO:0100242 True glioma susceptibility 2 glioma susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0013093 MONDO:0100242 True glioma susceptibility 3 glioma susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0013094 MONDO:0100242 True glioma susceptibility 5 glioma susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0013095 MONDO:0100242 True glioma susceptibility 6 glioma susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0013096 MONDO:0100242 True glioma susceptibility 7 glioma susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0013097 MONDO:0100242 True glioma susceptibility 8 glioma susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0013099 MONDO:0015770 True combined pituitary hormone deficiencies, genetic form congenital hypogonadotropic hypogonadism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0013098 MONDO:0005365 True noise induced hearing loss hearing loss disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013100 MONDO:0018054 True atrial fibrillation, familial, 8 familial atrial fibrillation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0013110 MONDO:0005528 True neurodegenerative syndrome due to cerebral folate transport deficiency inborn vitamin metabolic disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0013110 MONDO:0017313 True neurodegenerative syndrome due to cerebral folate transport deficiency disorder of folate metabolism and transport UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013110 MONDO:0024237 True neurodegenerative syndrome due to cerebral folate transport deficiency inherited neurodegenerative disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013111 MONDO:0016387 True acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins mitochondrial oxidative phosphorylation disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013114 MONDO:0019587 True autosomal dominant nonsyndromic hearing loss 50 autosomal dominant nonsyndromic hearing loss UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0013116 MONDO:0009637 True congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome inborn mitochondrial myopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013116 MONDO:0016387 True congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome mitochondrial oxidative phosphorylation disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013118 MONDO:0015161 True Nijmegen breakage syndrome-like disorder multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013119 MONDO:0019588 True autosomal recessive nonsyndromic hearing loss 77 hearing loss, autosomal recessive UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0013120 MONDO:0010765 True 46,XY sex reversal 5 46,XY complete gonadal dysgenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0013123 MONDO:0006664 True atrial septal defect 6 atrial septal defect UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0013125 MONDO:0019716 True CLAPO syndrome overgrowth syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013127 MONDO:0018770 True asphyxiating thoracic dystrophy 3 Jeune syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0013114 MONDO:0019587 True autosomal dominant nonsyndromic hearing loss 50 autosomal dominant nonsyndromic hearing loss UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0013118 MONDO:0021190 True Nijmegen breakage syndrome-like disorder DNA repair disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0013119 MONDO:0019588 True autosomal recessive nonsyndromic hearing loss 77 hearing loss, autosomal recessive UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0013120 MONDO:0010765 True 46,XY sex reversal 5 46,XY complete gonadal dysgenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0013123 MONDO:0006664 True atrial septal defect 6 atrial septal defect UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0013127 MONDO:0018770 True asphyxiating thoracic dystrophy 3 Jeune syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS MONDO:0013128 MONDO:0000608 True familial juvenile hyperuricemic nephropathy type 2 familial juvenile hyperuricemic nephropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0013128 MONDO:0015962 True familial juvenile hyperuricemic nephropathy type 2 inherited renal tubular disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013130 MONDO:0000062 True isolated microphthalmia 4 isolated microphthalmia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0013131 MONDO:0004691 True polycystic kidney disease 2 autosomal dominant polycystic kidney disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0013132 MONDO:0015087 True hereditary spastic paraplegia 36 autosomal dominant complex spastic paraplegia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0013130 MONDO:0000062 True isolated microphthalmia 4 isolated microphthalmia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0013131 MONDO:0004691 True polycystic kidney disease 2 autosomal dominant polycystic kidney disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0013133 MONDO:0024462 True melanoma, cutaneous malignant, susceptibility to, 5 susceptibility to familial cutaneous melanoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0013135 MONDO:0015541 True familial hemophagocytic lymphohistiocytosis 5 hereditary hemophagocytic lymphohistiocytosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0013136 MONDO:0004907 True hereditary hypotrichosis with recurrent skin vesicles alopecia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013137 MONDO:0008982 True choroidal dystrophy, central areolar 2 central areolar choroidal dystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0013139 MONDO:0008742 True neutropenia, severe congenital, 2, autosomal dominant autosomal dominant severe congenital neutropenia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0013140 MONDO:0015279 True candidiasis, familial, 4 chronic mucocutaneous candidiasis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0013142 MONDO:0019941 True neuropathy, hereditary sensory and autonomic, type 2B hereditary sensory and autonomic neuropathy type 2 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0013143 MONDO:0018374 True hereditary thrombophilia due to congenital histidine-rich (poly-L) glycoprotein deficiency secondary avascular necrosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013143 MONDO:0018383 True hereditary thrombophilia due to congenital histidine-rich (poly-L) glycoprotein deficiency osteonecrosis of genetic origin UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013143 MONDO:0100240 True hereditary thrombophilia due to congenital histidine-rich (poly-L) glycoprotein deficiency inherited thrombophilia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0013144 MONDO:0018374 True hereditary antithrombin deficiency secondary avascular necrosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013144 MONDO:0018383 True hereditary antithrombin deficiency osteonecrosis of genetic origin UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013144 MONDO:0100240 True hereditary antithrombin deficiency inherited thrombophilia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0013145 MONDO:0015263 True Brugada syndrome 6 Brugada syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0013146 MONDO:0015263 True Brugada syndrome 7 Brugada syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0013145 MONDO:0015263 True Brugada syndrome 6 Brugada syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0013146 MONDO:0015263 True Brugada syndrome 7 Brugada syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS MONDO:0013147 MONDO:0016333 True dilated cardiomyopathy 1CC familial dilated cardiomyopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0013148 MONDO:0015263 True Brugada syndrome 8 Brugada syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0013150 MONDO:0020065 True parkinsonism-dystonia, infantile combined dystonia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0013148 MONDO:0015263 True Brugada syndrome 8 Brugada syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS MONDO:0013151 MONDO:0008982 True choroidal dystrophy, central areolar, 3 central areolar choroidal dystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0013154 MONDO:0000171 True muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 muscular dystrophy-dystroglycanopathy, type A UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0013155 MONDO:0000172 True muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 muscular dystrophy-dystroglycanopathy, type B UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0013156 MONDO:0000172 True muscular dystrophy-dystroglycanopathy (congenital without intellectual disability), type B4 muscular dystrophy-dystroglycanopathy, type B UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0013155 MONDO:0000172 True muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 muscular dystrophy-dystroglycanopathy, type B UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0013156 MONDO:0000172 True muscular dystrophy-dystroglycanopathy (congenital without intellectual disability), type B4 muscular dystrophy-dystroglycanopathy, type B UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS MONDO:0013157 MONDO:0000171 True muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5 muscular dystrophy-dystroglycanopathy, type A UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS MONDO:0013158 MONDO:0000171 True muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A6 muscular dystrophy-dystroglycanopathy, type A UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0013159 MONDO:0000172 True muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1 muscular dystrophy-dystroglycanopathy, type B UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0013160 MONDO:0000172 True muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2 muscular dystrophy-dystroglycanopathy, type B UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0013159 MONDO:0000172 True muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1 muscular dystrophy-dystroglycanopathy, type B UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0013160 MONDO:0000172 True muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2 muscular dystrophy-dystroglycanopathy, type B UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS MONDO:0013161 MONDO:0000173 True autosomal recessive limb-girdle muscular dystrophy type 2O muscular dystrophy-dystroglycanopathy, type C UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0013161 MONDO:0015152 True autosomal recessive limb-girdle muscular dystrophy type 2O autosomal recessive limb-girdle muscular dystrophy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0013161 MONDO:0015152 True autosomal recessive limb-girdle muscular dystrophy type 2O autosomal recessive limb-girdle muscular dystrophy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS MONDO:0013162 MONDO:0000173 True autosomal recessive limb-girdle muscular dystrophy type 2N muscular dystrophy-dystroglycanopathy, type C UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0013162 MONDO:0015152 True autosomal recessive limb-girdle muscular dystrophy type 2N autosomal recessive limb-girdle muscular dystrophy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0013162 MONDO:0016185 True autosomal recessive limb-girdle muscular dystrophy type 2N qualitative or quantitative defects of protein O-mannosyltransferase 2 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013163 MONDO:0019005 True nephronophthisis-like nephropathy 1 nephronophthisis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0013164 MONDO:0019238 True beta-ureidopropionase deficiency inborn disorder of pyrimidine metabolism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013166 MONDO:0000698 True GABA aminotransaminase deficiency gamma-amino butyric acid metabolism disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0013166 MONDO:0017684 True GABA aminotransaminase deficiency disorder of beta and omega amino acid metabolism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0013162 MONDO:0015152 True autosomal recessive limb-girdle muscular dystrophy type 2N autosomal recessive limb-girdle muscular dystrophy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0013163 MONDO:0019005 True nephronophthisis-like nephropathy 1 nephronophthisis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS MONDO:0013167 MONDO:0005180 True parkinson disease 16 Parkinson disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0013168 MONDO:0016333 True dilated cardiomyopathy 1DD familial dilated cardiomyopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0013169 MONDO:0015159 True chromosome 5p13 duplication syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013169 MONDO:0016942 True chromosome 5p13 duplication syndrome partial trisomy/tetrasomy of the short arm of chromosome 5 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013170 MONDO:0006025 True cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0013170 MONDO:0100237 True cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies inherited cutis laxa UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0013171 MONDO:0019236 True purine nucleoside phosphorylase deficiency inborn disorder of purine metabolism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013173 MONDO:0019502 True intellectual disability, autosomal recessive 13 autosomal recessive non-syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0013174 MONDO:0016575 True primary ciliary dyskinesia 13 primary ciliary dyskinesia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0013175 MONDO:0019200 True retinitis pigmentosa 50 retinitis pigmentosa UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0013173 MONDO:0019502 True intellectual disability, autosomal recessive 13 autosomal recessive non-syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0013174 MONDO:0016575 True primary ciliary dyskinesia 13 primary ciliary dyskinesia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0013175 MONDO:0019200 True retinitis pigmentosa 50 retinitis pigmentosa UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS MONDO:0013176 MONDO:0018096 True Weill-Marchesani 4 syndrome, recessive Weill-Marchesani syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0013177 MONDO:0019950 True congenital muscular dystrophy due to integrin alpha-7 deficiency congenital muscular dystrophy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0013178 MONDO:0019950 True congenital muscular dystrophy due to LMNA mutation congenital muscular dystrophy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0013179 MONDO:0015150 True hereditary spastic paraplegia 44 complex hereditary spastic paraplegia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013182 MONDO:0015159 True chromosome 17p13.3 duplication syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013182 MONDO:0016950 True chromosome 17p13.3 duplication syndrome partial duplication of the short arm of chromosome 17 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013183 MONDO:0016293 True congenital stationary night blindness 1C congenital stationary night blindness UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0013186 MONDO:0018997 True Noonan syndrome 6 Noonan syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0013183 MONDO:0016293 True congenital stationary night blindness 1C congenital stationary night blindness UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0013186 MONDO:0018997 True Noonan syndrome 6 Noonan syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS MONDO:0013188 MONDO:0009133 True cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 3 cerebellar ataxia, intellectual disability, and dysequilibrium UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0013189 MONDO:0001162 True trichotillomania impulse control disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0013189 MONDO:0001162 True trichotillomania impulse control disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0013191 MONDO:0005363 True focal segmental glomerulosclerosis 5 inherited focal segmental glomerulosclerosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0013192 MONDO:0024512 True spondyloarthropathy, susceptibility to, 3 spondyloarthropathy, susceptibility to UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0013195 MONDO:0024573 True hypertrophic cardiomyopathy 13 familial hypertrophic cardiomyopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0013195 MONDO:0024573 True hypertrophic cardiomyopathy 13 familial hypertrophic cardiomyopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS MONDO:0013196 MONDO:0018630 True Lynch syndrome 8 hereditary nonpolyposis colon cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0013197 MONDO:0024573 True hypertrophic cardiomyopathy 14 familial hypertrophic cardiomyopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0013197 MONDO:0024573 True hypertrophic cardiomyopathy 14 familial hypertrophic cardiomyopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS MONDO:0013198 MONDO:0016333 True dilated cardiomyopathy 1EE familial dilated cardiomyopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0013199 MONDO:0001734 True tuberous sclerosis 2 tuberous sclerosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0013200 MONDO:0024573 True hypertrophic cardiomyopathy 15 familial hypertrophic cardiomyopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0013199 MONDO:0001734 True tuberous sclerosis 2 tuberous sclerosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0013200 MONDO:0024573 True hypertrophic cardiomyopathy 15 familial hypertrophic cardiomyopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS MONDO:0013203 MONDO:0005321 True corneal dystrophy, Fuchs endothelial, 3 Fuchs' endothelial dystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0013204 MONDO:0005321 True corneal dystrophy, Fuchs endothelial, 4 Fuchs' endothelial dystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0013205 MONDO:0005321 True corneal dystrophy, fuchs endothelial, 5 Fuchs' endothelial dystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0013206 MONDO:0005321 True corneal dystrophy, Fuchs endothelial, 6 Fuchs' endothelial dystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0013207 MONDO:0005321 True corneal dystrophy, fuchs endothelial, 7 Fuchs' endothelial dystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0013208 MONDO:0000214 True cirrhosis - dystonia - polycythemia - hypermanganesemia syndrome hypermanganesemia with dystonia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0013208 MONDO:0017766 True cirrhosis - dystonia - polycythemia - hypermanganesemia syndrome disorder of manganese transport UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013209 MONDO:0004790 True non-alcoholic fatty liver disease fatty liver disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0013210 MONDO:0019588 True autosomal recessive nonsyndromic hearing loss 25 hearing loss, autosomal recessive UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0013208 MONDO:0000214 True cirrhosis - dystonia - polycythemia - hypermanganesemia syndrome hypermanganesemia with dystonia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0013210 MONDO:0019588 True autosomal recessive nonsyndromic hearing loss 25 hearing loss, autosomal recessive UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS MONDO:0013211 MONDO:0016333 True dilated cardiomyopathy 1FF familial dilated cardiomyopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0013212 MONDO:0018993 True Charcot-Marie-Tooth disease axonal type 2N Charcot-Marie-Tooth disease type 2 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0013215 MONDO:0019588 True autosomal recessive nonsyndromic hearing loss 79 hearing loss, autosomal recessive UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0013216 MONDO:0015253 True Diamond-Blackfan anemia 9 Diamond-Blackfan anemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0013217 MONDO:0015253 True Diamond-Blackfan anemia 10 Diamond-Blackfan anemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0013218 MONDO:0019516 True exudative vitreoretinopathy 5 exudative vitreoretinopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0013220 MONDO:0019257 True hemochromatosis type 2B hemochromatosis type 2 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0013221 MONDO:0009685 True Miyoshi muscular dystrophy 2 Miyoshi myopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0013222 MONDO:0009685 True Miyoshi muscular dystrophy 3 Miyoshi myopathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0013223 MONDO:0016763 True autosomal recessive spondylometaphyseal dysplasia, Megarbane type spondylometaphyseal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0013224 MONDO:0016473 True rhabdoid tumor predisposition syndrome 2 familial rhabdoid tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0013225 MONDO:0006536 True congenital generalized lipodystrophy type 4 congenital generalized lipodystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0013226 MONDO:0003778 True combined immunodeficiency with faciooculoskeletal anomalies inborn error of immunity UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013227 MONDO:0021181 True congenital plasminogen activator inhibitor type 1 deficiency inherited blood coagulation disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013230 MONDO:0013229 True epilepsy, hot water, 2 hot water reflex epilepsy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0013231 MONDO:0018998 True Leber congenital amaurosis 14 Leber congenital amaurosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0013238 MONDO:0016915 True chromosome 17q23.1-q23.2 deletion syndrome partial deletion of the long arm of chromosome 17 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013239 MONDO:0015149 True hereditary spastic paraplegia 41 pure hereditary spastic paraplegia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013240 MONDO:0018911 True maturity-onset diabetes of the young type 10 maturity-onset diabetes of the young UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED -MONDO:0013241 MONDO:0019793 True spinocerebellar ataxia type 30 autosomal dominant cerebellar ataxia type III UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013242 MONDO:0018911 True maturity-onset diabetes of the young type 11 maturity-onset diabetes of the young UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED -MONDO:0013243 MONDO:0015352 True neuronopathy, distal hereditary motor, type 2C distal hereditary motor neuropathy type 2 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0013245 MONDO:0015159 True syndromic multisystem autoimmune disease due to ITCH deficiency multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013248 MONDO:0019391 True Fanconi anemia complementation group O Fanconi anemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0013249 MONDO:0019588 True autosomal recessive nonsyndromic hearing loss 84A hearing loss, autosomal recessive UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0013250 MONDO:0019588 True autosomal recessive nonsyndromic hearing loss 85 hearing loss, autosomal recessive UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0013252 MONDO:0003847 True Warsaw breakage syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0013252 MONDO:0015161 True Warsaw breakage syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0013215 MONDO:0019588 True autosomal recessive nonsyndromic hearing loss 79 hearing loss, autosomal recessive UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0013216 MONDO:0015253 True Diamond-Blackfan anemia 9 Diamond-Blackfan anemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0013217 MONDO:0015253 True Diamond-Blackfan anemia 10 Diamond-Blackfan anemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0013221 MONDO:0009685 True Miyoshi muscular dystrophy 2 Miyoshi myopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0013222 MONDO:0009685 True Miyoshi muscular dystrophy 3 Miyoshi myopathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0013223 MONDO:0016763 True autosomal recessive spondylometaphyseal dysplasia, Megarbane type spondylometaphyseal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0013224 MONDO:0016473 True rhabdoid tumor predisposition syndrome 2 familial rhabdoid tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0013225 MONDO:0006536 True congenital generalized lipodystrophy type 4 congenital generalized lipodystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0013230 MONDO:0013229 True epilepsy, hot water, 2 hot water reflex epilepsy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0013231 MONDO:0018998 True Leber congenital amaurosis 14 Leber congenital amaurosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0013248 MONDO:0019391 True Fanconi anemia complementation group O Fanconi anemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0013249 MONDO:0019588 True autosomal recessive nonsyndromic hearing loss 84A hearing loss, autosomal recessive UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0013250 MONDO:0019588 True autosomal recessive nonsyndromic hearing loss 85 hearing loss, autosomal recessive UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0013252 MONDO:0003847 True Warsaw breakage syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0013253 MONDO:0100526 True breast-ovarian cancer, familial, susceptibility to, 3 breast-ovarian cancer, familial, susceptibility to UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0013254 MONDO:0100062 True microcephaly, seizures, and developmental delay developmental and epileptic encephalopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0013255 MONDO:0017123 True arthrogryposis, renal dysfunction, and cholestasis 2 arthrogryposis-renal dysfunction-cholestasis syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0013256 MONDO:0003847 True chromosome 15q24 deletion syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0013256 MONDO:0015159 True chromosome 15q24 deletion syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013256 MONDO:0016913 True chromosome 15q24 deletion syndrome partial deletion of the long arm of chromosome 15 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0013254 MONDO:0100062 True microcephaly, seizures, and developmental delay developmental and epileptic encephalopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0013255 MONDO:0017123 True arthrogryposis, renal dysfunction, and cholestasis 2 arthrogryposis-renal dysfunction-cholestasis syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS MONDO:0013258 MONDO:0020836 True autism, susceptibility to, 16 autism, susceptiblity to UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0013259 MONDO:0016293 True Oguchi disease-2 congenital stationary night blindness UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0013259 MONDO:0016293 True Oguchi disease-2 congenital stationary night blindness UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS MONDO:0013261 MONDO:0018901 True dilated cardiomyopathy 1R left ventricular noncompaction UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS MONDO:0013262 MONDO:0018901 True dilated cardiomyopathy 1S left ventricular noncompaction UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0013263 MONDO:0019200 True retinitis pigmentosa 54 retinitis pigmentosa UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0013263 MONDO:0019200 True retinitis pigmentosa 54 retinitis pigmentosa UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS MONDO:0013264 MONDO:0005144 True amyotrophic lateral sclerosis type 12 familial amyotrophic lateral sclerosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0013265 MONDO:0020836 True autism, susceptibility to, 17 autism, susceptiblity to UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0013266 MONDO:0015802 True intellectual disability, autosomal dominant 20 autosomal dominant non-syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0013267 MONDO:0016894 True distal 16p11.2 microdeletion syndrome partial deletion of the short arm of chromosome 16 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013268 MONDO:0016643 True frontonasal dysplasia with alopecia and genital anomaly frontonasal dysplasia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0013269 MONDO:0019588 True autosomal recessive nonsyndromic hearing loss 91 hearing loss, autosomal recessive UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0013271 MONDO:0016643 True frontonasal dysplasia - severe microphthalmia - severe facial clefting syndrome frontonasal dysplasia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0013272 MONDO:0016912 True chromosome 14q11-q22 deletion syndrome partial deletion of the long arm of chromosome 14 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013273 MONDO:0016949 True chromosome 16p13.3 duplication syndrome partial duplication of the short arm of chromosome 16 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013274 MONDO:0019200 True retinitis pigmentosa 51 retinitis pigmentosa UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0013275 MONDO:0017688 True hemolytic anemia due to glucophosphate isomerase deficiency disorder of glycolysis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013277 MONDO:0100062 True developmental and epileptic encephalopathy, 5 developmental and epileptic encephalopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0013278 MONDO:0019313 True lymphatic malformation 3 lymphatic malformation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0013268 MONDO:0016643 True frontonasal dysplasia with alopecia and genital anomaly frontonasal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0013269 MONDO:0019588 True autosomal recessive nonsyndromic hearing loss 91 hearing loss, autosomal recessive UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0013271 MONDO:0016643 True frontonasal dysplasia - severe microphthalmia - severe facial clefting syndrome frontonasal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0013274 MONDO:0019200 True retinitis pigmentosa 51 retinitis pigmentosa UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0013277 MONDO:0100062 True developmental and epileptic encephalopathy, 5 developmental and epileptic encephalopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0013278 MONDO:0019313 True lymphatic malformation 3 lymphatic malformation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS MONDO:0013279 MONDO:0019171 True long QT syndrome 13 familial long QT syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0013281 MONDO:0005501 True COG4-congenital disorder of glycosylation congenital disorder of glycosylation type II UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0013281 MONDO:0017750 True COG4-congenital disorder of glycosylation defect in conserved oligomeric Golgi complex UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013282 MONDO:0002273 True alpha 1-antitrypsin deficiency plasma protein metabolism disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0013283 MONDO:0015517 True immunodeficiency, common variable, 3 common variable immunodeficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0013284 MONDO:0015517 True immunodeficiency, common variable, 4 common variable immunodeficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0013285 MONDO:0015517 True immunodeficiency, common variable, 5 common variable immunodeficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0013286 MONDO:0015517 True immunodeficiency, common variable, 6 common variable immunodeficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0013292 MONDO:0016903 True chromosome 4q21 deletion syndrome partial deletion of the long arm of chromosome 4 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013293 MONDO:0000062 True isolated microphthalmia 6 isolated microphthalmia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0013296 MONDO:0015688 True myeloid neoplasm associated with FGFR1 rearrangement myeloid/lymphoid neoplasms associated with eosinophilia and abnormality of PDGFRA, PDGFRB, FGFR1 or JAK2 UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013297 MONDO:0015151 True autosomal dominant limb-girdle muscular dystrophy type 1H muscular dystrophy, limb-girdle, autosomal dominant UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0013298 MONDO:0015159 True chromosome 17q21.31 duplication syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013298 MONDO:0016967 True chromosome 17q21.31 duplication syndrome partial duplication of the long arm of chromosome 17 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013300 MONDO:0015411 True commissural facial cleft facial cleft UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013301 MONDO:0019852 True aromatase deficiency inherited primary ovarian failure UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING -MONDO:0013302 MONDO:0019005 True nephronophthisis 11 nephronophthisis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0013304 MONDO:0019565 True von Willebrand disease 2 hereditary von Willebrand disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0013305 MONDO:0019587 True autosomal dominant nonsyndromic hearing loss 51 autosomal dominant nonsyndromic hearing loss UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0013306 MONDO:0000732 True combined oxidative phosphorylation defect type 7 combined oxidative phosphorylation deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0013307 MONDO:0000863 True myopathy, lactic acidosis, and sideroblastic anemia 2 myopathy, lactic acidosis, and sideroblastic anemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0013308 MONDO:0021060 True CBL-related disorder RASopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013310 MONDO:0018479 True congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency congenital adrenal hyperplasia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0013311 MONDO:0019287 True ectodermal dysplasia-syndactyly syndrome ectodermal dysplasia syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING -MONDO:0013312 MONDO:0019200 True retinitis pigmentosa 55 retinitis pigmentosa UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0013281 MONDO:0005501 True COG4-congenital disorder of glycosylation congenital disorder of glycosylation type II UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0013282 MONDO:0002254 True alpha 1-antitrypsin deficiency syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0013283 MONDO:0015517 True immunodeficiency, common variable, 3 common variable immunodeficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0013284 MONDO:0015517 True immunodeficiency, common variable, 4 common variable immunodeficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0013285 MONDO:0015517 True immunodeficiency, common variable, 5 common variable immunodeficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0013286 MONDO:0015517 True immunodeficiency, common variable, 6 common variable immunodeficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0013293 MONDO:0000062 True isolated microphthalmia 6 isolated microphthalmia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0013296 MONDO:0015688 True myeloid neoplasm associated with FGFR1 rearrangement myeloid/lymphoid neoplasms associated with eosinophilia and abnormality of PDGFRA, PDGFRB, FGFR1 or JAK2 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0013297 MONDO:0015151 True autosomal dominant limb-girdle muscular dystrophy type 1H muscular dystrophy, limb-girdle, autosomal dominant UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0013302 MONDO:0019005 True nephronophthisis 11 nephronophthisis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0013305 MONDO:0019587 True autosomal dominant nonsyndromic hearing loss 51 autosomal dominant nonsyndromic hearing loss UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0013306 MONDO:0000732 True combined oxidative phosphorylation defect type 7 combined oxidative phosphorylation deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0013307 MONDO:0000863 True myopathy, lactic acidosis, and sideroblastic anemia 2 myopathy, lactic acidosis, and sideroblastic anemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0013310 MONDO:0018479 True congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency congenital adrenal hyperplasia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0013312 MONDO:0019200 True retinitis pigmentosa 55 retinitis pigmentosa UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS MONDO:0013313 MONDO:0013311 True ectodermal dysplasia-cutaneous syndactyly syndrome ectodermal dysplasia-syndactyly syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0013314 MONDO:0019200 True retinitis pigmentosa 56 retinitis pigmentosa UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0013315 MONDO:0019200 True retinitis pigmentosa 57 retinitis pigmentosa UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0013316 MONDO:0003004 True occult macular dystrophy macular degeneration UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0013320 MONDO:0016894 True chromosome 16p12.2-p11.2 deletion syndrome partial deletion of the short arm of chromosome 16 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013322 MONDO:0000160 True epilepsy, familial adult myoclonic, 3 epilepsy, familial adult myoclonic UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0013323 MONDO:0009032 True cranioectodermal dysplasia 2 cranioectodermal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0013324 MONDO:0002013 True lymphedema-posterior choanal atresia syndrome lymphangioma UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013325 MONDO:0005501 True COG5-congenital disorder of glycosylation congenital disorder of glycosylation type II UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0013325 MONDO:0017750 True COG5-congenital disorder of glycosylation defect in conserved oligomeric Golgi complex UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0013314 MONDO:0019200 True retinitis pigmentosa 56 retinitis pigmentosa UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0013315 MONDO:0019200 True retinitis pigmentosa 57 retinitis pigmentosa UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0013322 MONDO:0000160 True epilepsy, familial adult myoclonic, 3 epilepsy, familial adult myoclonic UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0013323 MONDO:0009032 True cranioectodermal dysplasia 2 cranioectodermal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0013325 MONDO:0005501 True COG5-congenital disorder of glycosylation congenital disorder of glycosylation type II UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS MONDO:0013326 MONDO:0017842 True Senior-Loken syndrome 7 Senior-Loken syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0013327 MONDO:0002474 True primary hyperoxaluria type 3 primary hyperoxaluria UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0013328 MONDO:0019200 True retinitis pigmentosa 58 retinitis pigmentosa UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0013329 MONDO:0016046 True familial clubfoot due to 17q23.1q23.2 microduplication familial clubfoot with or without associated lower limb anomalies UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013329 MONDO:0016967 True familial clubfoot due to 17q23.1q23.2 microduplication partial duplication of the long arm of chromosome 17 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013334 MONDO:0003847 True cocoon syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0013334 MONDO:0019054 True cocoon syndrome congenital limb malformation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013336 MONDO:0015159 True chromosome 19p13.13 deletion syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013336 MONDO:0016897 True chromosome 19p13.13 deletion syndrome partial deletion of the short arm of chromosome 19 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013337 MONDO:0018213 True neuropathy, hereditary sensory and autonomic, type 1C hereditary sensory and autonomic neuropathy type 1 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0013338 MONDO:0017058 True Charcot-Marie-Tooth disease recessive intermediate B autosomal recessive intermediate Charcot-Marie-Tooth disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0013327 MONDO:0002474 True primary hyperoxaluria type 3 primary hyperoxaluria UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0013328 MONDO:0019200 True retinitis pigmentosa 58 retinitis pigmentosa UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS MONDO:0013339 MONDO:0016333 True dilated cardiomyopathy 1GG familial dilated cardiomyopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0013341 MONDO:0002012 True methylmalonic acidemia due to transcobalamin receptor defect methylmalonic acidemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0013341 MONDO:0019220 True methylmalonic acidemia due to transcobalamin receptor defect inborn disorder of cobalamin metabolism and transport UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013342 MONDO:0002561 True hereditary spastic paraplegia 48 lysosomal storage disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0013342 MONDO:0019064 True hereditary spastic paraplegia 48 hereditary spastic paraplegia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0013342 MONDO:0019064 True hereditary spastic paraplegia 48 hereditary spastic paraplegia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS MONDO:0013344 MONDO:0100246 True migraine, with or without aura, susceptibility to, 13 migraine with or without aura, susceptibility to UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0013345 MONDO:0010924 True d-2-hydroxyglutaric aciduria 2 D-2-hydroxyglutaric aciduria UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0013348 MONDO:0015993 True cone-rod dystrophy 15 cone-rod dystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0013345 MONDO:0010924 True d-2-hydroxyglutaric aciduria 2 D-2-hydroxyglutaric aciduria UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0013348 MONDO:0015993 True cone-rod dystrophy 15 cone-rod dystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS MONDO:0013348 MONDO:0019200 True cone-rod dystrophy 15 retinitis pigmentosa UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0013349 MONDO:0005500 True ALG11-congenital disorder of glycosylation congenital disorder of glycosylation type I UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0013349 MONDO:0017740 True ALG11-congenital disorder of glycosylation disorder of protein N-glycosylation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013350 MONDO:0018158 True mitochondrial DNA depletion syndrome 4b mitochondrial DNA depletion syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0013351 MONDO:0002602 True infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly central nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0013351 MONDO:0003847 True infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0013352 MONDO:0000508 True intellectual disability-severe speech delay-mild dysmorphism syndrome syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0013352 MONDO:0003847 True intellectual disability-severe speech delay-mild dysmorphism syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0013354 MONDO:0016387 True spastic ataxia 4 mitochondrial oxidative phosphorylation disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013354 MONDO:0017847 True spastic ataxia 4 autosomal recessive spastic ataxia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013355 MONDO:0019403 True congenital dyserythropoietic anemia type 4 congenital dyserythropoietic anemia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0013349 MONDO:0005500 True ALG11-congenital disorder of glycosylation congenital disorder of glycosylation type I UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0013350 MONDO:0018158 True mitochondrial DNA depletion syndrome 4b mitochondrial DNA depletion syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0013355 MONDO:0019403 True congenital dyserythropoietic anemia type 4 congenital dyserythropoietic anemia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS MONDO:0013356 MONDO:0017329 True vesicoureteral reflux 3 familial vesicoureteral reflux UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0013357 MONDO:0016915 True chromosome 17q11.2 deletion syndrome, 1.4Mb partial deletion of the long arm of chromosome 17 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013357 MONDO:0018975 True chromosome 17q11.2 deletion syndrome, 1.4Mb neurofibromatosis type 1 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS -MONDO:0013358 MONDO:0019342 True Seckel syndrome 4 Seckel syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0013359 MONDO:0016525 True familial hyperaldosteronism type III familial hyperaldosteronism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0013360 MONDO:0015262 True brachyolmia, Maroteaux type brachyolmia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013361 MONDO:0006025 True congenital prothrombin deficiency autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0013361 MONDO:0015722 True congenital prothrombin deficiency congenital vitamin K-dependent coagulation factors deficiency UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS -MONDO:0013362 MONDO:0015159 True THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013363 MONDO:0016953 True chromosome 2q31.1 duplication syndrome partial duplication of the long arm of chromosome 2 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013364 MONDO:0019188 True Rubinstein-Taybi syndrome due to EP300 haploinsufficiency Rubinstein-Taybi syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0013365 MONDO:0019588 True autosomal recessive nonsyndromic hearing loss 83 hearing loss, autosomal recessive UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0013358 MONDO:0019342 True Seckel syndrome 4 Seckel syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0013359 MONDO:0016525 True familial hyperaldosteronism type III familial hyperaldosteronism UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0013364 MONDO:0019188 True Rubinstein-Taybi syndrome due to EP300 haploinsufficiency Rubinstein-Taybi syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0013365 MONDO:0019588 True autosomal recessive nonsyndromic hearing loss 83 hearing loss, autosomal recessive UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS MONDO:0013367 MONDO:0019171 True long QT syndrome 2 familial long QT syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0013368 MONDO:0018234 True mammary-digital-nail syndrome dysostosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013368 MONDO:0019054 True mammary-digital-nail syndrome congenital limb malformation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013369 MONDO:0024573 True hypertrophic cardiomyopathy 7 familial hypertrophic cardiomyopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0013369 MONDO:0024573 True hypertrophic cardiomyopathy 7 familial hypertrophic cardiomyopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS MONDO:0013370 MONDO:0019171 True long QT syndrome 6 familial long QT syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0013371 MONDO:0016333 True dilated cardiomyopathy 1U familial dilated cardiomyopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0013372 MONDO:0019171 True long QT syndrome 5 familial long QT syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0013373 MONDO:0016333 True dilated cardiomyopathy 1V familial dilated cardiomyopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0013375 MONDO:0001029 True Klippel-Feil syndrome 3, autosomal dominant Klippel-Feil syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0013375 MONDO:0001029 True Klippel-Feil syndrome 3, autosomal dominant Klippel-Feil syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS MONDO:0013376 MONDO:0000170 True microphthalmia, isolated, with coloboma 6 microphthalmia, isolated, with coloboma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0013377 MONDO:0000062 True isolated microphthalmia 7 isolated microphthalmia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0013379 MONDO:0018997 True Noonan syndrome 7 Noonan syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0013380 MONDO:0007893 True LEOPARD syndrome 3 Noonan syndrome with multiple lentigines UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0013381 MONDO:0018213 True neuropathy, hereditary sensory, type 1D hereditary sensory and autonomic neuropathy type 1 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0013377 MONDO:0000062 True isolated microphthalmia 7 isolated microphthalmia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0013379 MONDO:0018997 True Noonan syndrome 7 Noonan syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0013380 MONDO:0007893 True LEOPARD syndrome 3 Noonan syndrome with multiple lentigines UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS MONDO:0013382 MONDO:0000152 True progressive demyelinating neuropathy with bilateral striatal necrosis thiamine-responsive dysfunction syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0013385 MONDO:0002457 True Treacher Collins syndrome 2 Treacher-Collins syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0013386 MONDO:0019588 True autosomal recessive nonsyndromic hearing loss 74 hearing loss, autosomal recessive UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0013387 MONDO:0100062 True developmental and epileptic encephalopathy, 7 developmental and epileptic encephalopathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0013388 MONDO:0100062 True developmental and epileptic encephalopathy, 11 developmental and epileptic encephalopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0013390 MONDO:0015152 True autosomal recessive limb-girdle muscular dystrophy type 2Q autosomal recessive limb-girdle muscular dystrophy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0013390 MONDO:0016198 True autosomal recessive limb-girdle muscular dystrophy type 2Q qualitative or quantitative defects of plectin UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013391 MONDO:0019046 True sterol carrier protein 2 deficiency leukodystrophy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING -MONDO:0013391 MONDO:0019233 True sterol carrier protein 2 deficiency disorder of peroxisomal beta oxidation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013392 MONDO:0015244 True autosomal recessive spinocerebellar ataxia 10 autosomal recessive cerebellar ataxia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0013393 MONDO:0016906 True distal 7q11.23 microdeletion syndrome partial deletion of the long arm of chromosome 7 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013395 MONDO:0019200 True retinitis pigmentosa 4 retinitis pigmentosa UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0013396 MONDO:0003847 True chromosome 1p32-p31 deletion syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0013396 MONDO:0016883 True chromosome 1p32-p31 deletion syndrome partial deletion of the short arm of chromosome 1 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0013385 MONDO:0002457 True Treacher Collins syndrome 2 Treacher-Collins syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0013386 MONDO:0019588 True autosomal recessive nonsyndromic hearing loss 74 hearing loss, autosomal recessive UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0013387 MONDO:0100062 True developmental and epileptic encephalopathy, 7 developmental and epileptic encephalopathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0013388 MONDO:0100062 True developmental and epileptic encephalopathy, 11 developmental and epileptic encephalopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0013390 MONDO:0015152 True autosomal recessive limb-girdle muscular dystrophy type 2Q autosomal recessive limb-girdle muscular dystrophy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0013392 MONDO:0015244 True autosomal recessive spinocerebellar ataxia 10 autosomal recessive cerebellar ataxia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0013395 MONDO:0019200 True retinitis pigmentosa 4 retinitis pigmentosa UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS MONDO:0013397 MONDO:0024516 True acne inversa, familial, 2 familial acne inversa UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0013398 MONDO:0024516 True acne inversa, familial, 3 familial acne inversa UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0013400 MONDO:0003847 True Congenital adrenal insuffiency with 46, XY sex reversal OR 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0013400 MONDO:0005495 True Congenital adrenal insuffiency with 46, XY sex reversal OR 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency adrenal gland disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0013400 MONDO:0020040 True Congenital adrenal insuffiency with 46, XY sex reversal OR 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency 46,XY disorder of sex development UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013401 MONDO:0019064 True hereditary spastic paraplegia 51 hereditary spastic paraplegia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0013402 MONDO:0019200 True retinitis pigmentosa 27 retinitis pigmentosa UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0013401 MONDO:0019064 True hereditary spastic paraplegia 51 hereditary spastic paraplegia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0013402 MONDO:0019200 True retinitis pigmentosa 27 retinitis pigmentosa UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS MONDO:0013403 MONDO:0018677 True heterotaxy, visceral, 4, autosomal visceral heterotaxy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0013404 MONDO:0000351 True hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase disorder of methionine catabolism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0013405 MONDO:0019200 True retinitis pigmentosa 49 retinitis pigmentosa UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0013406 MONDO:0005150 True age related macular degeneration 6 age-related macular degeneration UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0013407 MONDO:0019200 True retinitis pigmentosa 47 retinitis pigmentosa UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0013405 MONDO:0019200 True retinitis pigmentosa 49 retinitis pigmentosa UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0013406 MONDO:0005150 True age related macular degeneration 6 age-related macular degeneration UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0013407 MONDO:0019200 True retinitis pigmentosa 47 retinitis pigmentosa UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS MONDO:0013408 MONDO:0021094 True FADD-related immunodeficiency immunodeficiency disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0013410 MONDO:0010765 True 46,XY sex reversal 6 46,XY complete gonadal dysgenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0013412 MONDO:0024573 True hypertrophic cardiomyopathy 9 familial hypertrophic cardiomyopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0013413 MONDO:0019200 True retinitis pigmentosa 45 retinitis pigmentosa UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0013414 MONDO:0019200 True retinitis pigmentosa 44 retinitis pigmentosa UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0013416 MONDO:0005150 True age related macular degeneration 8 age-related macular degeneration UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0013410 MONDO:0010765 True 46,XY sex reversal 6 46,XY complete gonadal dysgenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0013412 MONDO:0024573 True hypertrophic cardiomyopathy 9 familial hypertrophic cardiomyopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0013413 MONDO:0019200 True retinitis pigmentosa 45 retinitis pigmentosa UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0013414 MONDO:0019200 True retinitis pigmentosa 44 retinitis pigmentosa UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0013416 MONDO:0005150 True age related macular degeneration 8 age-related macular degeneration UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS MONDO:0013418 MONDO:0019625 True aortic aneurysm, familial thoracic 7 familial thoracic aortic aneurysm and aortic dissection UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0013420 MONDO:0005150 True age related macular degeneration 12 age-related macular degeneration UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0013420 MONDO:0005150 True age related macular degeneration 12 age-related macular degeneration UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS MONDO:0013423 MONDO:0044209 True immunodeficiency due to MASP-2 deficiency disorder of lectin complement activation pathway UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0013424 MONDO:0016885 True 3p- syndrome partial deletion of the short arm of chromosome 3 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013424 MONDO:0017393 True 3p- syndrome blepharophimosis - intellectual disability syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013425 MONDO:0019200 True retinitis pigmentosa 20 retinitis pigmentosa UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0013426 MONDO:0018954 True aneurysm-osteoarthritis syndrome Loeys-Dietz syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0013427 MONDO:0015979 True immunodeficiency 31B hereditary predisposition to infections UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013428 MONDO:0016817 True Meier-Gorlin syndrome 2 Meier-Gorlin syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0013429 MONDO:0019200 True retinitis pigmentosa 40 retinitis pigmentosa UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0013430 MONDO:0016817 True Meier-Gorlin syndrome 3 Meier-Gorlin syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0013431 MONDO:0016817 True Meier-Gorlin syndrome 4 Meier-Gorlin syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0013432 MONDO:0016817 True Meier-Gorlin syndrome 5 Meier-Gorlin syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0013433 MONDO:0018646 True primary sclerosing cholangitis sclerosing cholangitis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0013434 MONDO:0016575 True primary ciliary dyskinesia 14 primary ciliary dyskinesia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0013435 MONDO:0016575 True primary ciliary dyskinesia 15 primary ciliary dyskinesia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0013436 MONDO:0019200 True retinitis pigmentosa 39 retinitis pigmentosa UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0013437 MONDO:0019200 True retinitis pigmentosa 43 retinitis pigmentosa UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0013438 MONDO:0016759 True pontocerebellar hypoplasia type 2D pontocerebellar hypoplasia type 2 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0013439 MONDO:0018841 True congenital bile acid synthesis defect 3 congenital bile acid synthesis defect UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0013425 MONDO:0019200 True retinitis pigmentosa 20 retinitis pigmentosa UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0013426 MONDO:0018954 True aneurysm-osteoarthritis syndrome Loeys-Dietz syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0013428 MONDO:0016817 True Meier-Gorlin syndrome 2 Meier-Gorlin syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0013429 MONDO:0019200 True retinitis pigmentosa 40 retinitis pigmentosa UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0013430 MONDO:0016817 True Meier-Gorlin syndrome 3 Meier-Gorlin syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0013431 MONDO:0016817 True Meier-Gorlin syndrome 4 Meier-Gorlin syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0013432 MONDO:0016817 True Meier-Gorlin syndrome 5 Meier-Gorlin syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0013434 MONDO:0016575 True primary ciliary dyskinesia 14 primary ciliary dyskinesia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0013435 MONDO:0016575 True primary ciliary dyskinesia 15 primary ciliary dyskinesia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0013436 MONDO:0019200 True retinitis pigmentosa 39 retinitis pigmentosa UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0013437 MONDO:0019200 True retinitis pigmentosa 43 retinitis pigmentosa UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0013439 MONDO:0018841 True congenital bile acid synthesis defect 3 congenital bile acid synthesis defect UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS MONDO:0013440 MONDO:0000173 True autosomal recessive limb-girdle muscular dystrophy type 2P muscular dystrophy-dystroglycanopathy, type C UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0013440 MONDO:0015152 True autosomal recessive limb-girdle muscular dystrophy type 2P autosomal recessive limb-girdle muscular dystrophy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0013441 MONDO:0018770 True asphyxiating thoracic dystrophy 4 Jeune syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0013442 MONDO:0019005 True nephronophthisis 12 nephronophthisis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0013443 MONDO:0019342 True Seckel syndrome 5 Seckel syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0013444 MONDO:0019005 True nephronophthisis 9 nephronophthisis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0013446 MONDO:0018998 True Leber congenital amaurosis 6 Leber congenital amaurosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0013447 MONDO:0019200 True retinitis pigmentosa 48 retinitis pigmentosa UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0013448 MONDO:0018214 True generalized epilepsy with febrile seizures plus, type 8 generalized epilepsy with febrile seizures plus UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0013449 MONDO:0018998 True Leber congenital amaurosis 7 Leber congenital amaurosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0013450 MONDO:0016293 True congenital stationary night blindness 1D congenital stationary night blindness UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0013453 MONDO:0018998 True Leber congenital amaurosis 8 Leber congenital amaurosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0013454 MONDO:0018998 True Leber congenital amaurosis 11 Leber congenital amaurosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0013455 MONDO:0024573 True hypertrophic cardiomyopathy 16 familial hypertrophic cardiomyopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0013456 MONDO:0016624 True constitutional megaloblastic anemia with severe neurologic disease inherited deficiency anemia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013456 MONDO:0017313 True constitutional megaloblastic anemia with severe neurologic disease disorder of folate metabolism and transport UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013457 MONDO:0018998 True Leber congenital amaurosis 15 Leber congenital amaurosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0013458 MONDO:0015962 True hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome inherited renal tubular disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013458 MONDO:0016387 True hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome mitochondrial oxidative phosphorylation disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013464 MONDO:0016227 True episodic ataxia type 5 hereditary episodic ataxia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0013465 MONDO:0018852 True achromatopsia 4 achromatopsia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0013466 MONDO:0000358 True orofacial cleft 13 orofacial cleft UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0013440 MONDO:0015152 True autosomal recessive limb-girdle muscular dystrophy type 2P autosomal recessive limb-girdle muscular dystrophy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0013441 MONDO:0018770 True asphyxiating thoracic dystrophy 4 Jeune syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0013442 MONDO:0019005 True nephronophthisis 12 nephronophthisis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0013443 MONDO:0019342 True Seckel syndrome 5 Seckel syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0013444 MONDO:0019005 True nephronophthisis 9 nephronophthisis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0013446 MONDO:0018998 True Leber congenital amaurosis 6 Leber congenital amaurosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0013447 MONDO:0019200 True retinitis pigmentosa 48 retinitis pigmentosa UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0013448 MONDO:0018214 True generalized epilepsy with febrile seizures plus, type 8 generalized epilepsy with febrile seizures plus UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0013449 MONDO:0018998 True Leber congenital amaurosis 7 Leber congenital amaurosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0013450 MONDO:0016293 True congenital stationary night blindness 1D congenital stationary night blindness UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0013453 MONDO:0018998 True Leber congenital amaurosis 8 Leber congenital amaurosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0013454 MONDO:0018998 True Leber congenital amaurosis 11 Leber congenital amaurosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0013455 MONDO:0024573 True hypertrophic cardiomyopathy 16 familial hypertrophic cardiomyopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0013457 MONDO:0018998 True Leber congenital amaurosis 15 Leber congenital amaurosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0013464 MONDO:0016227 True episodic ataxia type 5 hereditary episodic ataxia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0013466 MONDO:0000358 True orofacial cleft 13 orofacial cleft UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS MONDO:0013467 MONDO:0044209 True immunodeficiency due to ficolin3 deficiency disorder of lectin complement activation pathway UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0013468 MONDO:0019200 True retinitis pigmentosa 59 retinitis pigmentosa UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0013469 MONDO:0019200 True retinitis pigmentosa 38 retinitis pigmentosa UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0013470 MONDO:0018214 True generalized epilepsy with febrile seizures plus, type 7 generalized epilepsy with febrile seizures plus UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0013471 MONDO:0019588 True autosomal recessive nonsyndromic hearing loss 61 hearing loss, autosomal recessive UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0013472 MONDO:0018943 True fatal infantile hypertonic myofibrillar myopathy myofibrillar myopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0013474 MONDO:0024573 True hypertrophic cardiomyopathy 17 familial hypertrophic cardiomyopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0013475 MONDO:0024573 True hypertrophic cardiomyopathy 18 familial hypertrophic cardiomyopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0013477 MONDO:0024573 True hypertrophic cardiomyopathy 20 familial hypertrophic cardiomyopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0013478 MONDO:0020088 True PLIN1-related familial partial lipodystrophy familial partial lipodystrophy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0013468 MONDO:0019200 True retinitis pigmentosa 59 retinitis pigmentosa UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0013469 MONDO:0019200 True retinitis pigmentosa 38 retinitis pigmentosa UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0013470 MONDO:0018214 True generalized epilepsy with febrile seizures plus, type 7 generalized epilepsy with febrile seizures plus UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0013471 MONDO:0019588 True autosomal recessive nonsyndromic hearing loss 61 hearing loss, autosomal recessive UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0013472 MONDO:0018943 True fatal infantile hypertonic myofibrillar myopathy myofibrillar myopathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0013474 MONDO:0024573 True hypertrophic cardiomyopathy 17 familial hypertrophic cardiomyopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0013475 MONDO:0024573 True hypertrophic cardiomyopathy 18 familial hypertrophic cardiomyopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0013477 MONDO:0024573 True hypertrophic cardiomyopathy 20 familial hypertrophic cardiomyopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0013478 MONDO:0020088 True PLIN1-related familial partial lipodystrophy familial partial lipodystrophy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS MONDO:0013479 MONDO:0016333 True dilated cardiomyopathy 1HH familial dilated cardiomyopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0013481 MONDO:0016911 True chromosome 13q14 deletion syndrome partial deletion of the long arm of chromosome 13 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013482 MONDO:0018921 True Meckel syndrome, type 8 Meckel syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0013484 MONDO:0005129 True cataract 36 cataract UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0013485 MONDO:0019792 True spinocerebellar ataxia type 35 autosomal dominant cerebellar ataxia type I UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013486 MONDO:0019792 True spinocerebellar ataxia type 32 autosomal dominant cerebellar ataxia type I UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013489 MONDO:0019588 True autosomal recessive nonsyndromic hearing loss 89 hearing loss, autosomal recessive UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0013490 MONDO:0011391 True megalencephalic leukoencephalopathy with subcortical cysts 2A megalencephalic leukoencephalopathy with subcortical cysts UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0013491 MONDO:0011391 True megalencephalic leukoencephalopathy with subcortical cysts 2B, remitting, with or without intellectual disability megalencephalic leukoencephalopathy with subcortical cysts UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0013492 MONDO:0008756 True alopecia-intellectual disability syndrome 3 alopecia - intellectual disability syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0013495 MONDO:0017265 True autosomal recessive congenital ichthyosis 8 autosomal recessive congenital ichthyosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0013498 MONDO:0003847 True schizophrenia 15 hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0013498 MONDO:0005090 True schizophrenia 15 schizophrenia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED -MONDO:0013499 MONDO:0019391 True Fanconi anemia complementation group P Fanconi anemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0013482 MONDO:0018921 True Meckel syndrome, type 8 Meckel syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0013484 MONDO:0005129 True cataract 36 cataract UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0013489 MONDO:0019588 True autosomal recessive nonsyndromic hearing loss 89 hearing loss, autosomal recessive UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0013492 MONDO:0008756 True alopecia-intellectual disability syndrome 3 alopecia - intellectual disability syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0013495 MONDO:0017265 True autosomal recessive congenital ichthyosis 8 autosomal recessive congenital ichthyosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0013499 MONDO:0019391 True Fanconi anemia complementation group P Fanconi anemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS MONDO:0013501 MONDO:0005144 True frontotemporal dementia and/or amyotrophic lateral sclerosis 6 familial amyotrophic lateral sclerosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0013501 MONDO:0017161 True frontotemporal dementia and/or amyotrophic lateral sclerosis 6 frontotemporal dementia with motor neuron disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0013502 MONDO:0007101 True amyloidosis, primary localized cutaneous, 2 familial primary localized cutaneous amyloidosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0013503 MONDO:0015279 True candidiasis, familial, 6 chronic mucocutaneous candidiasis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0013504 MONDO:0004983 True spermatogenic failure 8 spermatogenic failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0013505 MONDO:0004983 True spermatogenic failure 9 spermatogenic failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0013505 MONDO:0015746 True spermatogenic failure 9 male infertility due to globozoospermia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0013506 MONDO:0005090 True schizophrenia 16 schizophrenia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED -MONDO:0013507 MONDO:0018305 True granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3 chronic granulomatous disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0013504 MONDO:0004983 True spermatogenic failure 8 spermatogenic failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0013505 MONDO:0004983 True spermatogenic failure 9 spermatogenic failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0013507 MONDO:0018305 True granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3 chronic granulomatous disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS MONDO:0013508 MONDO:0001384 True myopia 19, autosomal dominant myopia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0013509 MONDO:0100172 True intellectual disability, autosomal dominant 6 intellectual disability, autosomal dominant UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0013512 MONDO:0011399 True hemoglobin H disease alpha thalassemia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED +MONDO:0013510 MONDO:0024462 True melanoma, cutaneous malignant, susceptibility to, 6 susceptibility to familial cutaneous melanoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0013512 MONDO:0011399 True hemoglobin H disease alpha thalassemia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS MONDO:0013513 MONDO:0018054 True atrial fibrillation, familial, 9 familial atrial fibrillation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0013514 MONDO:0003037 True hypotrichosis 3 hypotrichosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0013516 MONDO:0019200 True retinitis pigmentosa 60 retinitis pigmentosa UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0013514 MONDO:0003037 True hypotrichosis 3 hypotrichosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0013516 MONDO:0019200 True retinitis pigmentosa 60 retinitis pigmentosa UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS MONDO:0013518 MONDO:0013099 True pituitary hormone deficiency, combined, 6 combined pituitary hormone deficiencies, genetic form UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0013519 MONDO:0006025 True dyskeratosis congenita, autosomal recessive 2 autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0013519 MONDO:0015780 True dyskeratosis congenita, autosomal recessive 2 dyskeratosis congenita UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0013520 MONDO:0006025 True dyskeratosis congenita, autosomal recessive 3 autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0013520 MONDO:0015780 True dyskeratosis congenita, autosomal recessive 3 dyskeratosis congenita UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0013521 MONDO:0000426 True dyskeratosis congenita, autosomal dominant 2 autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0013521 MONDO:0015780 True dyskeratosis congenita, autosomal dominant 2 dyskeratosis congenita UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0013522 MONDO:0000426 True dyskeratosis congenita, autosomal dominant 3 autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0013522 MONDO:0015780 True dyskeratosis congenita, autosomal dominant 3 dyskeratosis congenita UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0013523 MONDO:0006025 True Nestor-Guillermo progeria syndrome autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0013523 MONDO:0019707 True Nestor-Guillermo progeria syndrome primary osteolysis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0013519 MONDO:0015780 True dyskeratosis congenita, autosomal recessive 2 dyskeratosis congenita UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0013520 MONDO:0015780 True dyskeratosis congenita, autosomal recessive 3 dyskeratosis congenita UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0013521 MONDO:0015780 True dyskeratosis congenita, autosomal dominant 2 dyskeratosis congenita UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0013522 MONDO:0015780 True dyskeratosis congenita, autosomal dominant 3 dyskeratosis congenita UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS MONDO:0013523 MONDO:0020732 True Nestor-Guillermo progeria syndrome progeria UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0013525 MONDO:0016575 True primary ciliary dyskinesia 16 primary ciliary dyskinesia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0013526 MONDO:0020074 True progressive myoclonic epilepsy type 6 progressive myoclonus epilepsy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0013527 MONDO:0015204 True lissencephaly 4 microlissencephaly UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0013528 MONDO:0019502 True intellectual disability, autosomal recessive 14 autosomal recessive non-syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0013529 MONDO:0017990 True catecholaminergic polymorphic ventricular tachycardia 3 catecholaminergic polymorphic ventricular tachycardia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0013525 MONDO:0016575 True primary ciliary dyskinesia 16 primary ciliary dyskinesia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0013526 MONDO:0020074 True progressive myoclonic epilepsy type 6 progressive myoclonus epilepsy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0013528 MONDO:0019502 True intellectual disability, autosomal recessive 14 autosomal recessive non-syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0013529 MONDO:0017990 True catecholaminergic polymorphic ventricular tachycardia 3 catecholaminergic polymorphic ventricular tachycardia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS MONDO:0013530 MONDO:0018054 True atrial fibrillation, familial, 10 familial atrial fibrillation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0013531 MONDO:0018162 True PSPH deficiency neurometabolic disorder due to serine deficiency UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013533 MONDO:0015903 True hyperlipidemia due to hepatic triglyceride lipase deficiency hyperalphalipoproteinemia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013534 MONDO:0019052 True apolipoprotein c-III deficiency inborn errors of metabolism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0013536 MONDO:0017754 True heme oxygenase 1 deficiency inborn disorder of porphyrin metabolism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013537 MONDO:0019588 True autosomal recessive nonsyndromic hearing loss 29 hearing loss, autosomal recessive UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0013539 MONDO:0019052 True hypotonia-failure to thrive-microcephaly syndrome inborn errors of metabolism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013541 MONDO:0000904 True complex cortical dysplasia with other brain malformations 1 complex cortical dysplasia with other brain malformations UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0013537 MONDO:0019588 True autosomal recessive nonsyndromic hearing loss 29 hearing loss, autosomal recessive UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0013541 MONDO:0000904 True complex cortical dysplasia with other brain malformations 1 complex cortical dysplasia with other brain malformations UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS MONDO:0013542 MONDO:0016820 True Moyamoya disease 5 Moyamoya disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0013544 MONDO:0018054 True atrial fibrillation, familial, 11 familial atrial fibrillation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0013545 MONDO:0018054 True atrial fibrillation, familial, 12 familial atrial fibrillation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0013547 MONDO:0014471 True mitochondrial complex V (ATP synthase) deficiency nuclear type 3 mitochondrial proton-transporting ATP synthase complex deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0013550 MONDO:0016108 True distal myopathy with posterior leg and anterior hand involvement autosomal dominant distal myopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013551 MONDO:0019064 True hereditary spastic paraplegia 47 hereditary spastic paraplegia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0013552 MONDO:0019064 True hereditary spastic paraplegia 52 hereditary spastic paraplegia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0013553 MONDO:0000133 True immunodeficiency-centromeric instability-facial anomalies syndrome 2 immunodeficiency-centromeric instability-facial anomalies syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0013559 MONDO:0019312 True Hermansky-Pudlak syndrome 7 Hermansky-Pudlak syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0013560 MONDO:0019312 True Hermansky-Pudlak syndrome 8 Hermansky-Pudlak syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0013561 MONDO:0002081 True chondrodysplasia with joint dislocations, gPAPP type musculoskeletal system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0013563 MONDO:0015327 True multiple congenital anomalies-hypotonia-seizures syndrome 1 developmental anomaly of metabolic origin UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013563 MONDO:0017748 True multiple congenital anomalies-hypotonia-seizures syndrome 1 inborn disorder of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013563 MONDO:0100247 True multiple congenital anomalies-hypotonia-seizures syndrome 1 multiple congenital anomalies-hypotonia-seizures syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0013565 MONDO:0019391 True Fanconi anemia complementation group G Fanconi anemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0013566 MONDO:0019391 True Fanconi anemia complementation group L Fanconi anemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0013567 MONDO:0006664 True atrial septal defect 3 atrial septal defect UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0013569 MONDO:0018770 True short-rib thoracic dysplasia 7 with or without polydactyly Jeune syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0013570 MONDO:0000732 True combined oxidative phosphorylation defect type 8 combined oxidative phosphorylation deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0013572 MONDO:0020087 True Keppen-Lubinsky syndrome hereditary lipodystrophy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013573 MONDO:0009032 True cranioectodermal dysplasia 3 cranioectodermal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0013574 MONDO:0019755 True cutis laxa - Marfanoid syndrome developmental defect during embryogenesis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013576 MONDO:0003778 True recurrent infections associated with rare immunoglobulin isotypes deficiency inborn error of immunity UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013578 MONDO:0015159 True DYRK1A-related intellectual disability syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0013547 MONDO:0014471 True mitochondrial complex V (ATP synthase) deficiency nuclear type 3 mitochondrial proton-transporting ATP synthase complex deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0013551 MONDO:0019064 True hereditary spastic paraplegia 47 hereditary spastic paraplegia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0013552 MONDO:0019064 True hereditary spastic paraplegia 52 hereditary spastic paraplegia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0013553 MONDO:0000133 True immunodeficiency-centromeric instability-facial anomalies syndrome 2 immunodeficiency-centromeric instability-facial anomalies syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0013559 MONDO:0019312 True Hermansky-Pudlak syndrome 7 Hermansky-Pudlak syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0013560 MONDO:0019312 True Hermansky-Pudlak syndrome 8 Hermansky-Pudlak syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0013563 MONDO:0100247 True multiple congenital anomalies-hypotonia-seizures syndrome 1 multiple congenital anomalies-hypotonia-seizures syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0013565 MONDO:0019391 True Fanconi anemia complementation group G Fanconi anemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0013566 MONDO:0019391 True Fanconi anemia complementation group L Fanconi anemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0013567 MONDO:0006664 True atrial septal defect 3 atrial septal defect UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0013569 MONDO:0018770 True short-rib thoracic dysplasia 7 with or without polydactyly Jeune syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0013570 MONDO:0000732 True combined oxidative phosphorylation defect type 8 combined oxidative phosphorylation deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0013573 MONDO:0009032 True cranioectodermal dysplasia 3 cranioectodermal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS MONDO:0013578 MONDO:0100172 True DYRK1A-related intellectual disability syndrome intellectual disability, autosomal dominant UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0013579 MONDO:0019242 True methylmalonate semialdehyde dehydrogenase deficiency inborn disorder of branched-chain amino acid metabolism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013580 MONDO:0019169 True pyruvate dehydrogenase E1-beta deficiency pyruvate dehydrogenase deficiency UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0013580 MONDO:0019169 True pyruvate dehydrogenase E1-beta deficiency pyruvate dehydrogenase deficiency UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0013581 MONDO:0100172 True intellectual disability, autosomal dominant 2 intellectual disability, autosomal dominant UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0013582 MONDO:0000141 True mosaic variegated aneuploidy syndrome 2 mosaic variegated aneuploidy syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0013584 MONDO:0015547 True hereditary sensory neuropathy-deafness-dementia syndrome hereditary dementia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013584 MONDO:0024237 True hereditary sensory neuropathy-deafness-dementia syndrome inherited neurodegenerative disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013585 MONDO:0006037 True hydrolethalus syndrome 2 hydrolethalus syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0013587 MONDO:0016527 True glycogen storage disease due to lactate dehydrogenase H-subunit deficiency glycogen storage disease due to lactate dehydrogenase deficiency UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0013582 MONDO:0000141 True mosaic variegated aneuploidy syndrome 2 mosaic variegated aneuploidy syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0013585 MONDO:0006037 True hydrolethalus syndrome 2 hydrolethalus syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS MONDO:0013588 MONDO:0017312 True Perrault syndrome 3 Perrault syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0013589 MONDO:0005363 True focal segmental glomerulosclerosis 6 inherited focal segmental glomerulosclerosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0013590 MONDO:0019354 True Stickler syndrome, type 4 Stickler syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0013591 MONDO:0015627 True epiphyseal dysplasia, multiple, 6 multiple epiphyseal dysplasia due to collagen 9 anomaly UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0013593 MONDO:0019587 True autosomal dominant nonsyndromic hearing loss 64 autosomal dominant nonsyndromic hearing loss UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0013594 MONDO:0019792 True spinocerebellar ataxia type 36 autosomal dominant cerebellar ataxia type I UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013597 MONDO:0000009 True platelet-type bleeding disorder 14 inherited bleeding disorder, platelet-type UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0013598 MONDO:0003939 True myostatin-related muscle hypertrophy muscle tissue disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0013599 MONDO:0015126 True autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome polyendocrinopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0013593 MONDO:0019587 True autosomal dominant nonsyndromic hearing loss 64 autosomal dominant nonsyndromic hearing loss UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0013597 MONDO:0000009 True platelet-type bleeding disorder 14 inherited bleeding disorder, platelet-type UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS MONDO:0013599 MONDO:0015279 True autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome chronic mucocutaneous candidiasis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0013599 MONDO:0019787 True autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome autoimmune enteropathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0013600 MONDO:0100081 True insomnia sleep disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013602 MONDO:0000448 True paragangliomas 5 paraganglioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0013603 MONDO:0001384 True myopia 20, autosomal dominant myopia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0013604 MONDO:0001384 True myopia 21, autosomal dominant myopia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0013605 MONDO:0009242 True brittle cornea syndrome 2 brittle cornea syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0013606 MONDO:0019312 True Hermansky-Pudlak syndrome 9 Hermansky-Pudlak syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0013608 MONDO:0018772 True Joubert syndrome 13 Joubert syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0013606 MONDO:0019312 True Hermansky-Pudlak syndrome 9 Hermansky-Pudlak syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0013608 MONDO:0018772 True Joubert syndrome 13 Joubert syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS MONDO:0013609 MONDO:0018921 True Meckel syndrome, type 10 Meckel syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0013610 MONDO:0019200 True retinitis pigmentosa 61 retinitis pigmentosa UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0013611 MONDO:0019200 True retinitis pigmentosa 62 retinitis pigmentosa UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0013612 MONDO:0000127 True geleophysic dysplasia 2 geleophysic dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0013613 MONDO:0018998 True Leber congenital amaurosis 16 Leber congenital amaurosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0013615 MONDO:0015338 True craniosynostosis and dental anomalies syndromic craniosynostosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0013610 MONDO:0019200 True retinitis pigmentosa 61 retinitis pigmentosa UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0013611 MONDO:0019200 True retinitis pigmentosa 62 retinitis pigmentosa UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0013612 MONDO:0000127 True geleophysic dysplasia 2 geleophysic dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0013613 MONDO:0018998 True Leber congenital amaurosis 16 Leber congenital amaurosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS MONDO:0013616 MONDO:0015999 True pigmented nodular adrenocortical disease, primary, 3 primary pigmented nodular adrenocortical disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0013621 MONDO:0002350 True LAMB2-related infantile-onset nephrotic syndrome familial nephrotic syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0013622 MONDO:0000009 True platelet-type bleeding disorder 9 inherited bleeding disorder, platelet-type UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0013623 MONDO:0000009 True platelet-type bleeding disorder 11 inherited bleeding disorder, platelet-type UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0013624 MONDO:0019502 True Rafiq syndrome autosomal recessive non-syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0013625 MONDO:0008199 True Parkinson disease 17 late-onset Parkinson disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED -MONDO:0013626 MONDO:0005083 True psoriasis 14, pustular psoriasis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0013626 MONDO:0019268 True psoriasis 14, pustular epidermal disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013626 MONDO:0019751 True psoriasis 14, pustular autoinflammatory syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0013621 MONDO:0002350 True LAMB2-related infantile-onset nephrotic syndrome familial nephrotic syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0013622 MONDO:0000009 True platelet-type bleeding disorder 9 inherited bleeding disorder, platelet-type UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0013623 MONDO:0000009 True platelet-type bleeding disorder 11 inherited bleeding disorder, platelet-type UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0013624 MONDO:0019502 True Rafiq syndrome autosomal recessive non-syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0013626 MONDO:0005083 True psoriasis 14, pustular psoriasis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0013626 MONDO:0019751 True psoriasis 14, pustular autoinflammatory syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013627 MONDO:0007477 True 3M syndrome 3 3-M syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0013628 MONDO:0016596 True hyperphosphatasia with intellectual disability syndrome 3 hyperphosphatasia-intellectual disability syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0013629 MONDO:0019502 True intellectual disability, autosomal recessive 16 autosomal recessive non-syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0013629 MONDO:0019502 True intellectual disability, autosomal recessive 16 autosomal recessive non-syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS MONDO:0013630 MONDO:0018921 True Meckel syndrome, type 9 Meckel syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0013632 MONDO:0019587 True autosomal dominant nonsyndromic hearing loss 33 autosomal dominant nonsyndromic hearing loss UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0013634 MONDO:0019941 True neuropathy, hereditary sensory, type 2C hereditary sensory and autonomic neuropathy type 2 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0013632 MONDO:0019587 True autosomal dominant nonsyndromic hearing loss 33 autosomal dominant nonsyndromic hearing loss UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS MONDO:0013635 MONDO:0007034 True Adams-Oliver syndrome 2 Adams-Oliver syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0013636 MONDO:0005388 True primary biliary cholangitis 4 primary biliary cholangitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0013637 MONDO:0005388 True primary biliary cholangitis 5 primary biliary cholangitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0013638 MONDO:0016649 True Warburg micro syndrome 3 Warburg micro syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0013641 MONDO:0016649 True Warburg micro syndrome 2 Warburg micro syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0013642 MONDO:0016296 True holoprosencephaly 11 holoprosencephaly UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0013644 MONDO:0018993 True Charcot-Marie-Tooth disease axonal type 2O Charcot-Marie-Tooth disease type 2 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0013645 MONDO:0020047 True autosomal recessive spinocerebellar ataxia 11 autosomal recessive syndromic cerebellar ataxia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013646 MONDO:0015159 True chromosome 8q21.11 deletion syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013646 MONDO:0016907 True chromosome 8q21.11 deletion syndrome partial deletion of the long arm of chromosome 8 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013648 MONDO:0019289 True familial progressive hyperpigmentation hyperpigmentation of the skin UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013649 MONDO:0003037 True hypotrichosis 9 hypotrichosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0013650 MONDO:0003037 True hypotrichosis 10 hypotrichosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0013651 MONDO:0019502 True intellectual disability, autosomal recessive 18 autosomal recessive non-syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0013654 MONDO:0016483 True aneurysm, intracranial berry, 11 intracranial berry aneurysm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0013636 MONDO:0005388 True primary biliary cholangitis 4 primary biliary cholangitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0013637 MONDO:0005388 True primary biliary cholangitis 5 primary biliary cholangitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0013638 MONDO:0016649 True Warburg micro syndrome 3 Warburg micro syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0013641 MONDO:0016649 True Warburg micro syndrome 2 Warburg micro syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0013642 MONDO:0016296 True holoprosencephaly 11 holoprosencephaly UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0013649 MONDO:0003037 True hypotrichosis 9 hypotrichosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0013650 MONDO:0003037 True hypotrichosis 10 hypotrichosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0013651 MONDO:0019502 True intellectual disability, autosomal recessive 18 autosomal recessive non-syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0013654 MONDO:0016483 True aneurysm, intracranial berry, 11 intracranial berry aneurysm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS MONDO:0013657 MONDO:0100172 True intellectual disability, autosomal dominant 10 intellectual disability, autosomal dominant UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0013658 MONDO:0100172 True intellectual disability, autosomal dominant 11 intellectual disability, autosomal dominant UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0013661 MONDO:0019215 True combined malonic and methylmalonic acidemia classic organic aciduria UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013662 MONDO:0003749 True Barrett esophagus esophageal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0013664 MONDO:0010765 True 46,XY disorder of sex development due to testicular 17,20-desmolase deficiency 46,XY complete gonadal dysgenesis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0013662 MONDO:0003749 True Barrett esophagus esophageal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0013664 MONDO:0010765 True 46,XY disorder of sex development due to testicular 17,20-desmolase deficiency 46,XY complete gonadal dysgenesis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS MONDO:0013666 MONDO:0019354 True Stickler syndrome, type 5 Stickler syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0013668 MONDO:0016951 True tetrasomy 18p partial trisomy/tetrasomy of the short arm of chromosome 18 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013669 MONDO:0100526 True breast-ovarian cancer, familial, susceptibility to, 4 breast-ovarian cancer, familial, susceptibility to UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0013673 MONDO:0003847 True Wolfram-like syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0013674 MONDO:0018307 True neurodegeneration with brain iron accumulation 4 neurodegeneration with brain iron accumulation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0013675 MONDO:0017338 True multiple mitochondrial dysfunctions syndrome 2 fatal multiple mitochondrial dysfunctions syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0013679 MONDO:0017838 True sclerosteosis 2 sclerosteosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0013674 MONDO:0018307 True neurodegeneration with brain iron accumulation 4 neurodegeneration with brain iron accumulation UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0013675 MONDO:0017338 True multiple mitochondrial dysfunctions syndrome 2 fatal multiple mitochondrial dysfunctions syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0013679 MONDO:0017838 True sclerosteosis 2 sclerosteosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS MONDO:0013682 MONDO:0017329 True vesicoureteral reflux 4 familial vesicoureteral reflux UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0013683 MONDO:0017329 True vesicoureteral reflux 5 familial vesicoureteral reflux UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0013684 MONDO:0017329 True vesicoureteral reflux 6 familial vesicoureteral reflux UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0013686 MONDO:0016108 True distal myopathy, Tateyama type autosomal dominant distal myopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013687 MONDO:0018446 True autosomal recessive spinocerebellar ataxia 12 autosomal recessive cerebellar ataxia - epilepsy - intellectual disability syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013688 MONDO:0019289 True linear and whorled nevoid hypermelanosis hyperpigmentation of the skin UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013689 MONDO:0009299 True ovarian dysgenesis 3 46 XX gonadal dysgenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0013690 MONDO:0003847 True Pitt-Hopkins-like syndrome 2 hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0013691 MONDO:0015267 True Feingold syndrome type 2 Feingold syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0013692 MONDO:0015356 True BAP1-related tumor predisposition syndrome hereditary neoplastic syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0013688 MONDO:0006499 True linear and whorled nevoid hypermelanosis hamartoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0013689 MONDO:0009299 True ovarian dysgenesis 3 46 XX gonadal dysgenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0013691 MONDO:0015267 True Feingold syndrome type 2 Feingold syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0013693 MONDO:0017411 True inflammatory skin and bowel disease, neonatal, 1 neonatal inflammatory skin and bowel disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0013694 MONDO:0019502 True intellectual disability, autosomal recessive 31 autosomal recessive non-syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0013695 MONDO:0000426 True colorectal cancer, hereditary nonpolyposis, type 6 autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0013694 MONDO:0019502 True intellectual disability, autosomal recessive 31 autosomal recessive non-syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS MONDO:0013695 MONDO:0018630 True colorectal cancer, hereditary nonpolyposis, type 6 hereditary nonpolyposis colon cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0013697 MONDO:0019502 True intellectual disability, autosomal recessive 29 autosomal recessive non-syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0013698 MONDO:0015240 True arthrogryposis, distal, type 1B digitotalar dysmorphism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0013699 MONDO:0000426 True Lynch syndrome 4 autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0013697 MONDO:0019502 True intellectual disability, autosomal recessive 29 autosomal recessive non-syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS MONDO:0013699 MONDO:0018630 True Lynch syndrome 4 hereditary nonpolyposis colon cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0013700 MONDO:0002525 True pancreatic triacylglycerol lipase deficiency inherited lipid metabolism disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013702 MONDO:0019502 True intellectual disability, autosomal recessive 27 autosomal recessive non-syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0013703 MONDO:0019502 True intellectual disability, autosomal recessive 33 autosomal recessive non-syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0013704 MONDO:0019502 True intellectual disability, autosomal recessive 30 autosomal recessive non-syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0013706 MONDO:0019502 True intellectual disability, autosomal recessive 23 autosomal recessive non-syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0013707 MONDO:0019502 True intellectual disability, autosomal recessive 24 autosomal recessive non-syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0013708 MONDO:0019502 True intellectual disability, autosomal recessive 25 autosomal recessive non-syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0013709 MONDO:0019502 True intellectual disability, autosomal recessive 28 autosomal recessive non-syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0013710 MONDO:0000426 True Lynch syndrome 5 autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0013702 MONDO:0019502 True intellectual disability, autosomal recessive 27 autosomal recessive non-syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0013703 MONDO:0019502 True intellectual disability, autosomal recessive 33 autosomal recessive non-syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0013704 MONDO:0019502 True intellectual disability, autosomal recessive 30 autosomal recessive non-syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0013706 MONDO:0019502 True intellectual disability, autosomal recessive 23 autosomal recessive non-syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0013707 MONDO:0019502 True intellectual disability, autosomal recessive 24 autosomal recessive non-syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0013708 MONDO:0019502 True intellectual disability, autosomal recessive 25 autosomal recessive non-syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0013709 MONDO:0019502 True intellectual disability, autosomal recessive 28 autosomal recessive non-syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS MONDO:0013710 MONDO:0018630 True Lynch syndrome 5 hereditary nonpolyposis colon cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0013711 MONDO:0015362 True peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome neuronopathy, distal hereditary motor, autosomal dominant UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING -MONDO:0013711 MONDO:0016108 True peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome autosomal dominant distal myopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013712 MONDO:0012580 True surfactant metabolism dysfunction, pulmonary, 5 hereditary pulmonary alveolar proteinosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0013714 MONDO:0044209 True mannose-binding lectin deficiency disorder of lectin complement activation pathway UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0013716 MONDO:0007031 True aortic aneurysm, familial abdominal, 4 familial abdominal aortic aneurysm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0013717 MONDO:0018770 True asphyxiating thoracic dystrophy 5 Jeune syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0013718 MONDO:0019005 True nephronophthisis 13 nephronophthisis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0013719 MONDO:0009032 True cranioectodermal dysplasia 4 cranioectodermal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0013722 MONDO:0019046 True hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism leukodystrophy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0013722 MONDO:0020022 True hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism central nervous system malformation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013725 MONDO:0000426 True colorectal cancer, hereditary nonpolyposis, type 7 autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0013717 MONDO:0018770 True asphyxiating thoracic dystrophy 5 Jeune syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0013718 MONDO:0019005 True nephronophthisis 13 nephronophthisis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0013719 MONDO:0009032 True cranioectodermal dysplasia 4 cranioectodermal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0013722 MONDO:0019046 True hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism leukodystrophy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS MONDO:0013725 MONDO:0018630 True colorectal cancer, hereditary nonpolyposis, type 7 hereditary nonpolyposis colon cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0013726 MONDO:0054865 True encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1 encephalopathy due to mitochondrial and peroxisomal fission defect UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0013730 MONDO:0005046 True graft versus host disease immune system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0013731 MONDO:0019952 True MEGF10-related myopathy congenital myopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0013734 MONDO:0016073 True microphthalmia, syndromic 11 syndromic microphthalmia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0013735 MONDO:0015159 True microcephaly-cerebellar hypoplasia-cardiac conduction defect syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013737 MONDO:0015150 True hereditary spastic paraplegia 46 complex hereditary spastic paraplegia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013738 MONDO:0019588 True autosomal recessive nonsyndromic hearing loss 96 hearing loss, autosomal recessive UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0013726 MONDO:0054865 True encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1 encephalopathy due to mitochondrial and peroxisomal fission defect UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0013734 MONDO:0016073 True microphthalmia, syndromic 11 syndromic microphthalmia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0013738 MONDO:0019588 True autosomal recessive nonsyndromic hearing loss 96 hearing loss, autosomal recessive UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS MONDO:0013739 MONDO:0018827 True chilblain lupus 2 familial chilblain lupus UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0013740 MONDO:0015338 True lethal occipital encephalocele-skeletal dysplasia syndrome syndromic craniosynostosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013741 MONDO:0005115 True familial temporal lobe epilepsy 5 temporal lobe epilepsy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0013745 MONDO:0018772 True Joubert syndrome 14 Joubert syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0013741 MONDO:0005115 True familial temporal lobe epilepsy 5 temporal lobe epilepsy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0013745 MONDO:0018772 True Joubert syndrome 14 Joubert syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS MONDO:0013746 MONDO:0002070 True ventricular septal defect 1 ventricular septal defect UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0013747 MONDO:0020290 True atrioventricular septal defect 4 familial atrioventricular septal defect UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0013748 MONDO:0002070 True ventricular septal defect 2 ventricular septal defect UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0013749 MONDO:0002070 True ventricular septal defect 3 ventricular septal defect UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0013750 MONDO:0006664 True atrial septal defect 8 atrial septal defect UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0013751 MONDO:0019571 True cutis laxa, autosomal dominant 2 autosomal dominant cutis laxa UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0013750 MONDO:0006664 True atrial septal defect 8 atrial septal defect UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS MONDO:0013752 MONDO:0004933 True hypoplastic left heart syndrome 2 hypoplastic left heart syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0013753 MONDO:0018993 True Charcot-Marie-Tooth disease axonal type 2P Charcot-Marie-Tooth disease type 2 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0013754 MONDO:0019572 True cutis laxa, autosomal recessive, type 1B autosomal recessive cutis laxa type 1 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0013755 MONDO:0017569 True PYCR1-related de Barsy syndrome de Barsy syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0013755 MONDO:0100237 True PYCR1-related de Barsy syndrome inherited cutis laxa UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0013756 MONDO:0016620 True hypertrophic osteoarthropathy, primary, autosomal recessive, 2 primary hypertrophic osteoarthropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0013757 MONDO:0000045 True congenital nongoitrous hypothryoidism 6 hypothyroidism, congenital, nongoitrous UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0013758 MONDO:0019548 True Charcot-Marie-Tooth disease dominant intermediate E autosomal dominant intermediate Charcot-Marie-Tooth disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013760 MONDO:0018117 True congenital ichthyosis-intellectual disability-spastic quadriplegia syndrome disorder of phospholipids, sphingolipids and fatty acids biosynthesis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0013759 MONDO:0024462 True melanoma, cutaneous malignant, susceptibility to, 8 susceptibility to familial cutaneous melanoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0013761 MONDO:0000152 True childhood encephalopathy due to thiamine pyrophosphokinase deficiency thiamine-responsive dysfunction syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0013762 MONDO:0018424 True lipoic acid synthetase deficiency inherited lipoic acid biosynthesis defect UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013762 MONDO:0019169 True lipoic acid synthetase deficiency pyruvate dehydrogenase deficiency UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0013763 MONDO:0018772 True Joubert syndrome 15 Joubert syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0013764 MONDO:0018772 True Joubert syndrome 16 Joubert syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0013766 MONDO:0018768 True familial cold autoinflammatory syndrome 3 familial cold autoinflammatory syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0013767 MONDO:0017979 True autoimmune lymphoproliferative syndrome type 4 autoimmune lymphoproliferative syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0013763 MONDO:0018772 True Joubert syndrome 15 Joubert syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0013764 MONDO:0018772 True Joubert syndrome 16 Joubert syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0013766 MONDO:0018768 True familial cold autoinflammatory syndrome 3 familial cold autoinflammatory syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS MONDO:0013768 MONDO:0018870 True arterial calcification, generalized, of infancy, 2 arterial calcification of infancy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0013769 MONDO:0020290 True atrioventricular septal defect 5 familial atrioventricular septal defect UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0013770 MONDO:0006664 True atrial septal defect 9 atrial septal defect UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0013773 MONDO:0020496 True porencephaly 2 familial porencephaly UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0013770 MONDO:0006664 True atrial septal defect 9 atrial septal defect UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0013773 MONDO:0020496 True porencephaly 2 familial porencephaly UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS MONDO:0013774 MONDO:0018065 True trigonocephaly 2 isolated trigonocephaly UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0013775 MONDO:0100240 True thrombomodulin-related bleeding disorder inherited thrombophilia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0013776 MONDO:0017847 True spastic ataxia 5 autosomal recessive spastic ataxia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013776 MONDO:0018158 True spastic ataxia 5 mitochondrial DNA depletion syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS -MONDO:0013777 MONDO:0019162 True pseudohypoaldosteronism type 2B pseudohypoaldosteronism type 2 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0013778 MONDO:0019162 True pseudohypoaldosteronism type 2C pseudohypoaldosteronism type 2 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0013780 MONDO:0019200 True retinitis pigmentosa 63 retinitis pigmentosa UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0013781 MONDO:0019162 True pseudohypoaldosteronism type 2D pseudohypoaldosteronism type 2 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0013782 MONDO:0019162 True pseudohypoaldosteronism type 2E pseudohypoaldosteronism type 2 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0013777 MONDO:0019162 True pseudohypoaldosteronism type 2B pseudohypoaldosteronism type 2 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0013778 MONDO:0019162 True pseudohypoaldosteronism type 2C pseudohypoaldosteronism type 2 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0013779 MONDO:0021094 True Wiskott-Aldrich syndrome 2 immunodeficiency disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0013780 MONDO:0019200 True retinitis pigmentosa 63 retinitis pigmentosa UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0013781 MONDO:0019162 True pseudohypoaldosteronism type 2D pseudohypoaldosteronism type 2 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0013782 MONDO:0019162 True pseudohypoaldosteronism type 2E pseudohypoaldosteronism type 2 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0013783 MONDO:0000170 True microphthalmia, isolated, with coloboma 7 microphthalmia, isolated, with coloboma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0013785 MONDO:0019502 True intellectual disability, autosomal recessive 34 autosomal recessive non-syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0013786 MONDO:0015993 True cone-rod dystrophy 16 cone-rod dystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0013785 MONDO:0019502 True intellectual disability, autosomal recessive 34 autosomal recessive non-syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0013786 MONDO:0015993 True cone-rod dystrophy 16 cone-rod dystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS MONDO:0013786 MONDO:0019200 True cone-rod dystrophy 16 retinitis pigmentosa UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0013788 MONDO:0016485 True Usher syndrome type 3B Usher syndrome type 3 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0013789 MONDO:0005500 True DDOST-congenital disorder of glycosylation congenital disorder of glycosylation type I UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0013789 MONDO:0017740 True DDOST-congenital disorder of glycosylation disorder of protein N-glycosylation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0013789 MONDO:0005500 True DDOST-congenital disorder of glycosylation congenital disorder of glycosylation type I UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS MONDO:0013790 MONDO:0016558 True mirror movements 2 familial congenital mirror movements UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0013794 MONDO:0019111 True thrombocythemia 3 familial thrombocytosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0013795 MONDO:0016068 True fibrochondrogenesis 2 fibrochondrogenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0013796 MONDO:0016967 True chromosome 17q12 duplication syndrome partial duplication of the long arm of chromosome 17 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013797 MONDO:0016915 True chromosome 17q12 deletion syndrome partial deletion of the long arm of chromosome 17 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013800 MONDO:0020066 True Ehlers-Danlos syndrome, kyphoscoliotic and deafness type Ehlers-Danlos syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0013802 MONDO:0016790 True infantile cerebellar-retinal degeneration tricarboxylic acid cycle disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013802 MONDO:0019118 True infantile cerebellar-retinal degeneration inherited retinal dystrophy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0013802 MONDO:0024237 True infantile cerebellar-retinal degeneration inherited neurodegenerative disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013806 MONDO:0015356 True familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome hereditary neoplastic syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013806 MONDO:0019293 True familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome skin vascular disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013807 MONDO:0016293 True congenital stationary night blindness 1E congenital stationary night blindness UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0013808 MONDO:0015356 True Maffucci syndrome hereditary neoplastic syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013808 MONDO:0019293 True Maffucci syndrome skin vascular disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0013808 MONDO:0019716 True Maffucci syndrome overgrowth syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013808 MONDO:0019755 True Maffucci syndrome developmental defect during embryogenesis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013810 MONDO:0005501 True COG6-ongenital disorder of glycosylation congenital disorder of glycosylation type II UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0013810 MONDO:0017750 True COG6-ongenital disorder of glycosylation defect in conserved oligomeric Golgi complex UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013811 MONDO:0000732 True combined oxidative phosphorylation defect type 9 combined oxidative phosphorylation deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0013812 MONDO:0017579 True Baraitser-winter syndrome 2 Baraitser-Winter cerebrofrontofacial syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0013813 MONDO:0000476 True dystonia 21 generalized dystonia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0013815 MONDO:0031615 True bent bone dysplasia syndrome 1 familial bent bone dysplasia syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0013795 MONDO:0016068 True fibrochondrogenesis 2 fibrochondrogenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0013800 MONDO:0020066 True Ehlers-Danlos syndrome, kyphoscoliotic and deafness type Ehlers-Danlos syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0013805 MONDO:0100172 True intellectual disability, autosomal dominant 13 intellectual disability, autosomal dominant UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0013807 MONDO:0016293 True congenital stationary night blindness 1E congenital stationary night blindness UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0013810 MONDO:0005501 True COG6-ongenital disorder of glycosylation congenital disorder of glycosylation type II UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0013811 MONDO:0000732 True combined oxidative phosphorylation defect type 9 combined oxidative phosphorylation deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0013812 MONDO:0017579 True Baraitser-winter syndrome 2 Baraitser-Winter cerebrofrontofacial syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS MONDO:0013817 MONDO:0005081 True preeclampsia/eclampsia 5 preeclampsia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0013818 MONDO:0009105 True trichohepatoenteric syndrome 2 trichohepatoenteric syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0013819 MONDO:0000426 True intellectual disability, autosomal dominant 14 autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0013819 MONDO:0015452 True intellectual disability, autosomal dominant 14 Coffin-Siris syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0013820 MONDO:0000426 True intellectual disability, autosomal dominant 15 autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0013820 MONDO:0015452 True intellectual disability, autosomal dominant 15 Coffin-Siris syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0013821 MONDO:0000426 True intellectual disability, autosomal dominant 16 autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0013821 MONDO:0015452 True intellectual disability, autosomal dominant 16 Coffin-Siris syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0013818 MONDO:0009105 True trichohepatoenteric syndrome 2 trichohepatoenteric syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0013819 MONDO:0015452 True intellectual disability, autosomal dominant 14 Coffin-Siris syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0013820 MONDO:0015452 True intellectual disability, autosomal dominant 15 Coffin-Siris syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0013821 MONDO:0015452 True intellectual disability, autosomal dominant 16 Coffin-Siris syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS MONDO:0013822 MONDO:0019797 True acrodysostosis 2 with or without hormone resistance acrodysostosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0013823 MONDO:0019587 True autosomal dominant nonsyndromic hearing loss 4B autosomal dominant nonsyndromic hearing loss UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0013824 MONDO:0018772 True Joubert syndrome 17 Joubert syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0013825 MONDO:0000824 True congenital diarrhea 6 congenital diarrhea UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0013826 MONDO:0019588 True autosomal recessive nonsyndromic hearing loss 86 hearing loss, autosomal recessive UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0013827 MONDO:0021022 True hyperekplexia 3 hereditary hyperekplexia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0013828 MONDO:0021022 True hyperekplexia 2 hereditary hyperekplexia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0013823 MONDO:0019587 True autosomal dominant nonsyndromic hearing loss 4B autosomal dominant nonsyndromic hearing loss UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0013824 MONDO:0018772 True Joubert syndrome 17 Joubert syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0013825 MONDO:0000824 True congenital diarrhea 6 congenital diarrhea UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0013826 MONDO:0019588 True autosomal recessive nonsyndromic hearing loss 86 hearing loss, autosomal recessive UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0013827 MONDO:0021022 True hyperekplexia 3 hereditary hyperekplexia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0013828 MONDO:0021022 True hyperekplexia 2 hereditary hyperekplexia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS MONDO:0013829 MONDO:0015797 True UV-sensitive syndrome 2 UV-sensitive syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0013830 MONDO:0015486 True keratoconus 5 keratoconus UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0013831 MONDO:0015486 True keratoconus 6 keratoconus UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING @@ -11653,1047 +7046,638 @@ MONDO:0013832 MONDO:0015486 True keratoconus 8 keratoconus UNSUPPORTED-MISSING U MONDO:0013833 MONDO:0015486 True keratoconus 7 keratoconus UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0013834 MONDO:0015797 True UV-sensitive syndrome 3 UV-sensitive syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0013835 MONDO:0000171 True muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7 muscular dystrophy-dystroglycanopathy, type A UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0013836 MONDO:0018151 True familial steroid-resistant nephrotic syndrome with sensorineural deafness coenzyme Q10 deficiency UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0013837 MONDO:0018151 True deafness-encephaloneuropathy-obesity-valvulopathy syndrome coenzyme Q10 deficiency UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0013838 MONDO:0018151 True coenzyme Q10 deficiency, primary, 3 coenzyme Q10 deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0013839 MONDO:0015364 True hereditary sensory and autonomic neuropathy type 6 hereditary sensory and autonomic neuropathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0013840 MONDO:0018151 True encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome coenzyme Q10 deficiency UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0013836 MONDO:0018151 True familial steroid-resistant nephrotic syndrome with sensorineural deafness coenzyme Q10 deficiency UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0013837 MONDO:0018151 True deafness-encephaloneuropathy-obesity-valvulopathy syndrome coenzyme Q10 deficiency UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0013838 MONDO:0018151 True coenzyme Q10 deficiency, primary, 3 coenzyme Q10 deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0013839 MONDO:0015364 True hereditary sensory and autonomic neuropathy type 6 hereditary sensory and autonomic neuropathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0013840 MONDO:0018151 True encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome coenzyme Q10 deficiency UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS MONDO:0013841 MONDO:0000723 True stuttering, familial persistent, 3 stutter disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0013842 MONDO:0000193 True cortisone reductase deficiency 2 cortisone reductase deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0013842 MONDO:0000193 True cortisone reductase deficiency 2 cortisone reductase deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS MONDO:0013844 MONDO:0000723 True stuttering, familial persistent, 4 stutter disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0013845 MONDO:0000107 True auriculocondylar syndrome 2 auriculocondylar syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0013847 MONDO:0016949 True chromosome 16p11.2 duplication syndrome partial duplication of the short arm of chromosome 16 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013848 MONDO:0016333 True dilated cardiomyopathy 2B familial dilated cardiomyopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0013849 MONDO:0016660 True microcephaly 8, primary, autosomal recessive autosomal recessive primary microcephaly UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0013849 MONDO:0016660 True microcephaly 8, primary, autosomal recessive autosomal recessive primary microcephaly UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS MONDO:0013851 MONDO:0000159 True autosomal dominant aplasia and myelodysplasia bone marrow failure syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0013851 MONDO:0001713 True autosomal dominant aplasia and myelodysplasia inherited aplastic anemia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013852 MONDO:0024573 True hypertrophic cardiomyopathy 21 familial hypertrophic cardiomyopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0013853 MONDO:0016396 True pontocerebellar hypoplasia type 1B pontocerebellar hypoplasia type 1 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0013854 MONDO:0016575 True primary ciliary dyskinesia 17 primary ciliary dyskinesia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0013858 MONDO:0020022 True pontine tegmental cap dysplasia central nervous system malformation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013862 MONDO:0015517 True immunodeficiency, common variable, 7 common variable immunodeficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0013863 MONDO:0015517 True combined immunodeficiency due to LRBA deficiency common variable immunodeficiency UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0013864 MONDO:0016033 True Cornelia de Lange syndrome 4 Cornelia de Lange syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0013865 MONDO:0000732 True mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency combined oxidative phosphorylation deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0013866 MONDO:0019260 True neuronal ceroid lipofuscinosis 11 adult neuronal ceroid lipofuscinosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013867 MONDO:0008891 True brown-Vialetto-van Laere syndrome 2 riboflavin transporter deficiency UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0013869 MONDO:0019236 True adenine phosphoribosyltransferase deficiency inborn disorder of purine metabolism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013870 MONDO:0005501 True TMEM165-congenital disorder of glycosylation congenital disorder of glycosylation type II UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0013870 MONDO:0017740 True TMEM165-congenital disorder of glycosylation disorder of protein N-glycosylation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013871 MONDO:0019342 True Seckel syndrome 6 Seckel syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0013873 MONDO:0002254 True IMAGe syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0013874 MONDO:0008733 True glucocorticoid deficiency 4 familial glucocorticoid deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0013875 MONDO:0004069 True 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome inborn mitochondrial metabolism disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0013875 MONDO:0017359 True 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome 3-methylglutaconic aciduria UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0013875 MONDO:0018117 True 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome disorder of phospholipids, sphingolipids and fatty acids biosynthesis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013877 MONDO:0004069 True mitochondrial pyruvate carrier deficiency inborn mitochondrial metabolism disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0013877 MONDO:0006025 True mitochondrial pyruvate carrier deficiency autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0013877 MONDO:0016789 True mitochondrial pyruvate carrier deficiency pyruvate metabolism disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0013852 MONDO:0024573 True hypertrophic cardiomyopathy 21 familial hypertrophic cardiomyopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0013854 MONDO:0016575 True primary ciliary dyskinesia 17 primary ciliary dyskinesia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0013860 MONDO:0005376 True idiopathic membranous glomerulonephritis membranous glomerulonephritis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0013862 MONDO:0015517 True immunodeficiency, common variable, 7 common variable immunodeficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0013863 MONDO:0015517 True combined immunodeficiency due to LRBA deficiency common variable immunodeficiency UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0013864 MONDO:0016033 True Cornelia de Lange syndrome 4 Cornelia de Lange syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0013865 MONDO:0000732 True mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency combined oxidative phosphorylation deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0013867 MONDO:0008891 True brown-Vialetto-van Laere syndrome 2 riboflavin transporter deficiency UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0013870 MONDO:0005501 True TMEM165-congenital disorder of glycosylation congenital disorder of glycosylation type II UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0013871 MONDO:0019342 True Seckel syndrome 6 Seckel syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0013873 MONDO:0002254 True IMAGe syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0013874 MONDO:0008733 True glucocorticoid deficiency 4 familial glucocorticoid deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0013875 MONDO:0017359 True 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome 3-methylglutaconic aciduria UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS MONDO:0013878 MONDO:0000148 True pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1 pulmonary fibrosis and/or bone marrow failure, telomere-related UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0013879 MONDO:0000148 True pulmonary fibrosis and/or bone marrow failure, Telomere-related, 2 pulmonary fibrosis and/or bone marrow failure, telomere-related UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0013881 MONDO:0017612 True pidermolysis bullosa, junctional 7, with interstitial lung disease and nephrotic syndrome junctional epidermolysis bullosa UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0013881 MONDO:0017612 True pidermolysis bullosa, junctional 7, with interstitial lung disease and nephrotic syndrome junctional epidermolysis bullosa UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0013882 MONDO:0016596 True hyperphosphatasia with intellectual disability syndrome 2 hyperphosphatasia-intellectual disability syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0013883 MONDO:0000182 True congenital myasthenic syndrome 13 congenital myasthenic syndrome with tubular aggregates UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0013884 MONDO:0100350 True neuronopathy, distal hereditary motor, type 5B neuronopathy, distal hereditary motor, type 5 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0013885 MONDO:0019716 True Malan overgrowth syndrome overgrowth syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013886 MONDO:0019792 True cerebellar dysfunction with variable cognitive and behavioral abnormalities autosomal dominant cerebellar ataxia type I UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013887 MONDO:0018677 True heterotaxy, visceral, 6, autosomal visceral heterotaxy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0013888 MONDO:0003233 True tremor, hereditary essential, 4 essential tremor UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0013890 MONDO:0018947 True congenital myopathy with internal nuclei and atypical cores centronuclear myopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0013888 MONDO:0003233 True tremor, hereditary essential, 4 essential tremor UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0013890 MONDO:0018947 True congenital myopathy with internal nuclei and atypical cores centronuclear myopathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS MONDO:0013891 MONDO:0005144 True amyotrophic lateral sclerosis type 18 familial amyotrophic lateral sclerosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0013892 MONDO:0018013 True C3 glomerulonephritis non-immunoglobulin-mediated membranoproliferative glomerulonephritis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013893 MONDO:0007462 True multiple sclerosis, susceptibility to, 5 multiple sclerosis, susceptibility to UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0013895 MONDO:0007034 True Adams-Oliver syndrome 3 Adams-Oliver syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0013896 MONDO:0018772 True Joubert syndrome 18 Joubert syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0013897 MONDO:0018954 True Loeys-Dietz syndrome 4 Loeys-Dietz syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0013898 MONDO:0001085 True karyomegalic interstitial nephritis interstitial nephritis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0013896 MONDO:0018772 True Joubert syndrome 18 Joubert syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0013897 MONDO:0018954 True Loeys-Dietz syndrome 4 Loeys-Dietz syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0013898 MONDO:0001085 True karyomegalic interstitial nephritis interstitial nephritis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0013899 MONDO:0018096 True Weill-Marchesani syndrome 3 Weill-Marchesani syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0013900 MONDO:0016241 True alternating hemiplegia of childhood 2 alternating hemiplegia of childhood UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0013901 MONDO:0004983 True spermatogenic failure 10 spermatogenic failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0013902 MONDO:0007194 True aortic valve disease 2 familial bicuspid aortic valve UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0013903 MONDO:0005712 True nystagmus 7, congenital, autosomal dominant congenital nystagmus UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0013901 MONDO:0004983 True spermatogenic failure 10 spermatogenic failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0013902 MONDO:0007194 True aortic valve disease 2 familial bicuspid aortic valve UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0013903 MONDO:0005712 True nystagmus 7, congenital, autosomal dominant congenital nystagmus UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS MONDO:0013904 MONDO:0000171 True muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 muscular dystrophy-dystroglycanopathy, type A UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0013905 MONDO:0018189 True autosomal recessive spinocerebellar ataxia 13 autosomal recessive cerebellar ataxia - pyramidal signs - nystagmus - oculomotor apraxia syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013907 MONDO:0017091 True bilateral generalized polymicrogyria bilateral polymicrogyria UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013912 MONDO:0018555 True hypogonadotropic hypogonadism 10 with or without anosmia hypogonadotropic hypogonadism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0013914 MONDO:0018555 True hypogonadotropic hypogonadism 12 with or without anosmia hypogonadotropic hypogonadism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0013915 MONDO:0018555 True hypogonadotropic hypogonadism 13 with or without anosmia hypogonadotropic hypogonadism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0013916 MONDO:0019005 True nephronophthisis 14 nephronophthisis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0013917 MONDO:0019005 True nephronophthisis 15 nephronophthisis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0013918 MONDO:0017806 True distal tetrasomy 15q 15q overgrowth syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013922 MONDO:0019342 True Seckel syndrome 7 Seckel syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0013923 MONDO:0016660 True microcephaly 9, primary, autosomal recessive autosomal recessive primary microcephaly UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0013924 MONDO:0019019 True osteogenesis imperfecta type 13 osteogenesis imperfecta UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0013925 MONDO:0016826 True methylmalonic acidemia with homocystinuria, type cblJ methylmalonic aciduria and homocystinuria UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0013928 MONDO:0000477 True dystonia 23 focal dystonia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0013928 MONDO:0015990 True dystonia 23 focal, segmental or multifocal dystonia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013929 MONDO:0019588 True autosomal recessive nonsyndromic hearing loss 98 hearing loss, autosomal recessive UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0013934 MONDO:0015131 True combined immunodeficiency due to STK4 deficiency combined immunodeficiency UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013935 MONDO:0010168 True Usher syndrome type 1J Usher syndrome type 1 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0013940 MONDO:0016575 True primary ciliary dyskinesia 18 primary ciliary dyskinesia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0013944 MONDO:0019751 True autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation autoinflammatory syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013947 MONDO:0001516 True neuronopathy, distal hereditary motor, autosomal recessive 5 spinal muscular atrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0013947 MONDO:0015363 True neuronopathy, distal hereditary motor, autosomal recessive 5 neuronopathy, distal hereditary motor, autosomal recessive UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0013953 MONDO:0003778 True immunodeficiency 28 inborn error of immunity UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0013954 MONDO:0019146 True Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency inherited susceptibility to mycobacterial diseases UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013955 MONDO:0019146 True Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency inherited susceptibility to mycobacterial diseases UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013956 MONDO:0019146 True Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency inherited susceptibility to mycobacterial diseases UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013957 MONDO:0019146 True Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency inherited susceptibility to mycobacterial diseases UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013959 MONDO:0018995 True Charcot-Marie-Tooth disease type 4F Charcot-Marie-Tooth disease type 4 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0013962 MONDO:0015150 True hereditary spastic paraplegia 53 complex hereditary spastic paraplegia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013963 MONDO:0019588 True autosomal recessive nonsyndromic hearing loss 93 hearing loss, autosomal recessive UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0013964 MONDO:0015253 True Diamond-Blackfan anemia 11 Diamond-Blackfan anemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0013965 MONDO:0017436 True lethal congenital contracture syndrome 4 lethal congenital contracture syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0013966 MONDO:0017990 True catecholaminergic polymorphic ventricular tachycardia 4 catecholaminergic polymorphic ventricular tachycardia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0013968 MONDO:0005500 True PGM1-congenital disorder of glycosylation congenital disorder of glycosylation type I UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0013968 MONDO:0016333 True PGM1-congenital disorder of glycosylation familial dilated cardiomyopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING -MONDO:0013968 MONDO:0017740 True PGM1-congenital disorder of glycosylation disorder of protein N-glycosylation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013969 MONDO:0000732 True combined oxidative phosphorylation defect type 11 combined oxidative phosphorylation deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0013970 MONDO:0006025 True branched-chain keto acid dehydrogenase kinase deficiency autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0013970 MONDO:0019242 True branched-chain keto acid dehydrogenase kinase deficiency inborn disorder of branched-chain amino acid metabolism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013971 MONDO:0000732 True leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome combined oxidative phosphorylation deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0013971 MONDO:0019046 True leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome leukodystrophy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS -MONDO:0013972 MONDO:0017312 True Perrault syndrome 2 Perrault syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0013973 MONDO:0019287 True ectodermal dysplasia 5, hair/nail type ectodermal dysplasia syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0013974 MONDO:0019071 True ectodermal dysplasia 6, hair/nail type pure hair and nail ectodermal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0013975 MONDO:0019071 True ectodermal dysplasia 7, hair/nail type pure hair and nail ectodermal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0013976 MONDO:0019071 True ectodermal dysplasia 9, hair/nail type pure hair and nail ectodermal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0013977 MONDO:0000732 True combined oxidative phosphorylation defect type 13 combined oxidative phosphorylation deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0013978 MONDO:0019588 True autosomal recessive nonsyndromic hearing loss 70 hearing loss, autosomal recessive UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0013979 MONDO:0016575 True primary ciliary dyskinesia 19 primary ciliary dyskinesia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0013984 MONDO:0019588 True autosomal recessive nonsyndromic hearing loss 84B hearing loss, autosomal recessive UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0013985 MONDO:0019588 True autosomal recessive nonsyndromic hearing loss 18B hearing loss, autosomal recessive UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0013986 MONDO:0000732 True combined oxidative phosphorylation defect type 14 combined oxidative phosphorylation deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0013987 MONDO:0000732 True combined oxidative phosphorylation defect type 15 combined oxidative phosphorylation deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0013989 MONDO:0100062 True developmental and epileptic encephalopathy, 14 developmental and epileptic encephalopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0013990 MONDO:0020135 True pontocerebellar hypoplasia type 8 pontocerebellar hypoplasia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0013991 MONDO:0020075 True obesity due to congenital leptin deficiency hereditary non-syndromic obesity UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013992 MONDO:0020075 True obesity due to leptin receptor gene deficiency hereditary non-syndromic obesity UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013993 MONDO:0020135 True pontocerebellar hypoplasia type 7 pontocerebellar hypoplasia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0013994 MONDO:0018772 True Joubert syndrome 20 Joubert syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0013995 MONDO:0100429 True cholestasis, intrahepatic, of pregnancy, 3 intrahepatic cholestasis of pregnancy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0013997 MONDO:0018363 True focal facial dermal dysplasia type IV focal facial dermal dysplasia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0013912 MONDO:0018555 True hypogonadotropic hypogonadism 10 with or without anosmia hypogonadotropic hypogonadism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0013914 MONDO:0018555 True hypogonadotropic hypogonadism 12 with or without anosmia hypogonadotropic hypogonadism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0013915 MONDO:0018555 True hypogonadotropic hypogonadism 13 with or without anosmia hypogonadotropic hypogonadism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0013916 MONDO:0019005 True nephronophthisis 14 nephronophthisis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0013917 MONDO:0019005 True nephronophthisis 15 nephronophthisis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0013922 MONDO:0019342 True Seckel syndrome 7 Seckel syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0013923 MONDO:0016660 True microcephaly 9, primary, autosomal recessive autosomal recessive primary microcephaly UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0013924 MONDO:0019019 True osteogenesis imperfecta type 13 osteogenesis imperfecta UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0013925 MONDO:0016826 True methylmalonic acidemia with homocystinuria, type cblJ methylmalonic aciduria and homocystinuria UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0013929 MONDO:0019588 True autosomal recessive nonsyndromic hearing loss 98 hearing loss, autosomal recessive UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0013940 MONDO:0016575 True primary ciliary dyskinesia 18 primary ciliary dyskinesia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0013963 MONDO:0019588 True autosomal recessive nonsyndromic hearing loss 93 hearing loss, autosomal recessive UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0013964 MONDO:0015253 True Diamond-Blackfan anemia 11 Diamond-Blackfan anemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0013965 MONDO:0017436 True lethal congenital contracture syndrome 4 lethal congenital contracture syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0013966 MONDO:0017990 True catecholaminergic polymorphic ventricular tachycardia 4 catecholaminergic polymorphic ventricular tachycardia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0013968 MONDO:0005500 True PGM1-congenital disorder of glycosylation congenital disorder of glycosylation type I UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0013969 MONDO:0000732 True combined oxidative phosphorylation defect type 11 combined oxidative phosphorylation deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0013971 MONDO:0000732 True leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome combined oxidative phosphorylation deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0013972 MONDO:0017312 True Perrault syndrome 2 Perrault syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0013973 MONDO:0019287 True ectodermal dysplasia 5, hair/nail type ectodermal dysplasia syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0013977 MONDO:0000732 True combined oxidative phosphorylation defect type 13 combined oxidative phosphorylation deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0013978 MONDO:0019588 True autosomal recessive nonsyndromic hearing loss 70 hearing loss, autosomal recessive UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0013979 MONDO:0016575 True primary ciliary dyskinesia 19 primary ciliary dyskinesia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0013984 MONDO:0019588 True autosomal recessive nonsyndromic hearing loss 84B hearing loss, autosomal recessive UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0013985 MONDO:0019588 True autosomal recessive nonsyndromic hearing loss 18B hearing loss, autosomal recessive UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0013986 MONDO:0000732 True combined oxidative phosphorylation defect type 14 combined oxidative phosphorylation deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0013987 MONDO:0000732 True combined oxidative phosphorylation defect type 15 combined oxidative phosphorylation deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0013989 MONDO:0100062 True developmental and epileptic encephalopathy, 14 developmental and epileptic encephalopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0013990 MONDO:0020135 True pontocerebellar hypoplasia type 8 pontocerebellar hypoplasia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0013993 MONDO:0020135 True pontocerebellar hypoplasia type 7 pontocerebellar hypoplasia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0013994 MONDO:0018772 True Joubert syndrome 20 Joubert syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0013997 MONDO:0018363 True focal facial dermal dysplasia type IV focal facial dermal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0013998 MONDO:0019012 True MEGF8-related Carpenter syndrome Carpenter syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0014001 MONDO:0010168 True Usher syndrome type 1K Usher syndrome type 1 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0014002 MONDO:0000030 True autosomal dominant nocturnal frontal lobe epilepsy 5 sleep-related hypermotor epilepsy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0014002 MONDO:0020300 True autosomal dominant nocturnal frontal lobe epilepsy 5 autosomal dominant nocturnal frontal lobe epilepsy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0014003 MONDO:0100062 True developmental and epileptic encephalopathy, 15 developmental and epileptic encephalopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0014003 MONDO:0100062 True developmental and epileptic encephalopathy, 15 developmental and epileptic encephalopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS MONDO:0014004 MONDO:0008947 True basal ganglia calcification, idiopathic, 4 bilateral striopallidodentate calcinosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0014005 MONDO:0002350 True immunoglobulin-mediated membranoproliferative glomerulonephritis familial nephrotic syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0014005 MONDO:0018904 True immunoglobulin-mediated membranoproliferative glomerulonephritis primary membranoproliferative glomerulonephritis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014006 MONDO:0015159 True Schuurs-Hoeijmakers syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014006 MONDO:0100172 True Schuurs-Hoeijmakers syndrome intellectual disability, autosomal dominant UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0014007 MONDO:0018866 True Aicardi-Goutieres syndrome 6 Aicardi-Goutieres syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0014012 MONDO:0018993 True Charcot-Marie-Tooth disease axonal type 2Q Charcot-Marie-Tooth disease type 2 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0014013 MONDO:0017757 True maternal riboflavin deficiency disorder of metabolite absorption and transport UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014014 MONDO:0017610 True epidermolysis bullosa simplex 4, localized or generalized intermediate, autosomal recessive epidermolysis bullosa simplex UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0014015 MONDO:0019064 True hereditary spastic paraplegia 56 hereditary spastic paraplegia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0014016 MONDO:0015150 True hereditary spastic paraplegia 49 complex hereditary spastic paraplegia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014014 MONDO:0017610 True epidermolysis bullosa simplex 4, localized or generalized intermediate, autosomal recessive epidermolysis bullosa simplex UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0014015 MONDO:0019064 True hereditary spastic paraplegia 56 hereditary spastic paraplegia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS MONDO:0014017 MONDO:0020836 True intellectual developmental disorder with autism and macrocephaly autism, susceptiblity to UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0014018 MONDO:0015150 True hereditary spastic paraplegia 54 complex hereditary spastic paraplegia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014019 MONDO:0015990 True dystonia 24 focal, segmental or multifocal dystonia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014020 MONDO:0015150 True hereditary spastic paraplegia 55 complex hereditary spastic paraplegia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014020 MONDO:0016387 True hereditary spastic paraplegia 55 mitochondrial oxidative phosphorylation disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014021 MONDO:0018319 True familial episodic pain syndrome with predominantly upper body involvement familial episodic pain syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0014021 MONDO:0018319 True familial episodic pain syndrome with predominantly upper body involvement familial episodic pain syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS MONDO:0014022 MONDO:0000171 True muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 10 muscular dystrophy-dystroglycanopathy, type A UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0014023 MONDO:0005500 True congenital muscular dystrophy with intellectual disability and severe epilepsy congenital disorder of glycosylation type I UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0014023 MONDO:0017749 True congenital muscular dystrophy with intellectual disability and severe epilepsy disorder of multiple glycosylation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014023 MONDO:0018276 True congenital muscular dystrophy with intellectual disability and severe epilepsy muscular dystrophy-dystroglycanopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0014024 MONDO:0015150 True hereditary spastic paraplegia 43 complex hereditary spastic paraplegia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014026 MONDO:0016293 True congenital stationary night blindness 1F congenital stationary night blindness UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0014027 MONDO:0003037 True hypotrichosis 11 hypotrichosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0014028 MONDO:0019942 True distal arthrogryposis type 5D distal arthrogryposis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0014030 MONDO:0016575 True primary ciliary dyskinesia 20 primary ciliary dyskinesia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0014032 MONDO:0021004 True brachydactyly type A1C brachydactyly UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0014033 MONDO:0000478 True dystonia 25 multifocal dystonia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0014033 MONDO:0015990 True dystonia 25 focal, segmental or multifocal dystonia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014034 MONDO:0015159 True severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014023 MONDO:0005500 True congenital muscular dystrophy with intellectual disability and severe epilepsy congenital disorder of glycosylation type I UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0014026 MONDO:0016293 True congenital stationary night blindness 1F congenital stationary night blindness UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0014027 MONDO:0003037 True hypotrichosis 11 hypotrichosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0014028 MONDO:0019942 True distal arthrogryposis type 5D distal arthrogryposis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0014030 MONDO:0016575 True primary ciliary dyskinesia 20 primary ciliary dyskinesia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS MONDO:0014034 MONDO:0100172 True severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome intellectual disability, autosomal dominant UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0014035 MONDO:0015159 True severe intellectual disability-progressive spastic diplegia syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014036 MONDO:0004975 True Alzheimer disease 17 Alzheimer disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0014037 MONDO:0004983 True spermatogenic failure 11 spermatogenic failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0014039 MONDO:0018158 True mitochondrial DNA depletion syndrome 11 mitochondrial DNA depletion syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0014040 MONDO:0019026 True autosomal recessive osteopetrosis 8 autosomal recessive osteopetrosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0014037 MONDO:0004983 True spermatogenic failure 11 spermatogenic failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0014039 MONDO:0018158 True mitochondrial DNA depletion syndrome 11 mitochondrial DNA depletion syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0014040 MONDO:0019026 True autosomal recessive osteopetrosis 8 autosomal recessive osteopetrosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0014041 MONDO:0020836 True autism, susceptibility to, 19 autism, susceptiblity to UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0014042 MONDO:0018901 True left ventricular noncompaction 7 left ventricular noncompaction UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0014043 MONDO:0016660 True microcephalic primordial dwarfism due to ZNF335 deficiency autosomal recessive primary microcephaly UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0014046 MONDO:0016063 True Cowden syndrome 4 Cowden disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0014047 MONDO:0016063 True Cowden syndrome 5 Cowden disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0014048 MONDO:0016063 True Cowden syndrome 6 Cowden disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0014042 MONDO:0018901 True left ventricular noncompaction 7 left ventricular noncompaction UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0014043 MONDO:0016660 True microcephalic primordial dwarfism due to ZNF335 deficiency autosomal recessive primary microcephaly UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0014046 MONDO:0016063 True Cowden syndrome 4 Cowden disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0014047 MONDO:0016063 True Cowden syndrome 5 Cowden disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0014048 MONDO:0016063 True Cowden syndrome 6 Cowden disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS MONDO:0014049 MONDO:0000463 True urofacial syndrome 2 Ochoa syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0014050 MONDO:0000062 True isolated microphthalmia 8 isolated microphthalmia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0014051 MONDO:0015487 True cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2 fatal infantile encephalocardiomyopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0014054 MONDO:0016537 True lymphoproliferative syndrome 2 lymphoproliferative syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0014055 MONDO:0000160 True epilepsy, familial adult myoclonic, 4 epilepsy, familial adult myoclonic UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0014050 MONDO:0000062 True isolated microphthalmia 8 isolated microphthalmia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0014054 MONDO:0016537 True lymphoproliferative syndrome 2 lymphoproliferative syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0014055 MONDO:0000160 True epilepsy, familial adult myoclonic, 4 epilepsy, familial adult myoclonic UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0014056 MONDO:0024462 True melanoma, cutaneous malignant, susceptibility to, 9 susceptibility to familial cutaneous melanoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0014057 MONDO:0009563 True maple syrup urine disease, mild variant maple syrup urine disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0014059 MONDO:0000170 True microphthalmia, isolated, with coloboma 9 microphthalmia, isolated, with coloboma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0014060 MONDO:0019118 True progressive retinal dystrophy due to retinol transport defect inherited retinal dystrophy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014062 MONDO:0000090 True mitochondrial DNA deletion syndrome with progressive myopathy progressive external ophthalmoplegia with mitochondrial DNA deletions UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0014063 MONDO:0020811 True mitochondrial complex III deficiency nuclear type 2 mitochondrial complex III deficiency, nuclear type UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0014064 MONDO:0020811 True mitochondrial complex III deficiency nuclear type 3 mitochondrial complex III deficiency, nuclear type UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0014065 MONDO:0020811 True mitochondrial complex III deficiency nuclear type 4 mitochondrial complex III deficiency, nuclear type UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0014066 MONDO:0020811 True mitochondrial complex III deficiency nuclear type 5 mitochondrial complex III deficiency, nuclear type UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0014067 MONDO:0015159 True short ulna-dysmorphism-hypotonia-intellectual disability syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014068 MONDO:0015993 True cone-rod dystrophy 17 cone-rod dystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0014069 MONDO:0019054 True syndactyly-camptodactyly and clinodactyly of fifth fingers-bifid toes syndrome congenital limb malformation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014070 MONDO:0018910 True oculocutaneous albinism type 7 oculocutaneous albinism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0014068 MONDO:0015993 True cone-rod dystrophy 17 cone-rod dystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0014070 MONDO:0018910 True oculocutaneous albinism type 7 oculocutaneous albinism UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS MONDO:0014071 MONDO:0000171 True muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11 muscular dystrophy-dystroglycanopathy, type A UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0014072 MONDO:0016001 True D,L-2-hydroxyglutaric aciduria 2-hydroxyglutaric aciduria UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0014073 MONDO:0016333 True dilated cardiomyopathy 1II familial dilated cardiomyopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0014074 MONDO:0019548 True Charcot-Marie-Tooth disease dominant intermediate F autosomal dominant intermediate Charcot-Marie-Tooth disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014076 MONDO:0006025 True dyskeratosis congenita, autosomal recessive 5 autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0014076 MONDO:0015780 True dyskeratosis congenita, autosomal recessive 5 dyskeratosis congenita UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0014077 MONDO:0018869 True cobblestone lissencephaly without muscular or ocular involvement cobblestone lissencephaly UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014078 MONDO:0000009 True platelet-type bleeding disorder 15 inherited bleeding disorder, platelet-type UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0014078 MONDO:0000009 True platelet-type bleeding disorder 15 inherited bleeding disorder, platelet-type UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS MONDO:0014079 MONDO:0100170 True restless legs syndrome, susceptibility to, 8 restless legs syndrome, susceptibility to UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0014080 MONDO:0017198 True osteosclerotic metaphyseal dysplasia osteopetrosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0014081 MONDO:0044201 True severe combined immunodeficiency due to CARD11 deficiency T+ B+ severe combined immunodeficiency UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014082 MONDO:0021094 True cryptosporidiosis-chronic cholangitis-liver disease syndrome immunodeficiency disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0014084 MONDO:0015244 True ataxia with oculomotor apraxia type 3 autosomal recessive cerebellar ataxia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED MONDO:0014085 MONDO:0016349 True hydrocephalus, nonsyndromic, autosomal recessive 2 congenital hydrocephalus UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0014087 MONDO:0015799 True Smith-McCort dysplasia 2 Smith-McCort dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0014088 MONDO:0015609 True advanced sleep phase syndrome 2 advanced sleep phase syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0014089 MONDO:0017666 True corneal intraepithelial dyskeratosis-palmoplantar hyperkeratosis-laryngeal dyskeratosis syndrome diffuse palmoplantar keratoderma UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014089 MONDO:0020212 True corneal intraepithelial dyskeratosis-palmoplantar hyperkeratosis-laryngeal dyskeratosis syndrome superficial corneal dystrophy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014093 MONDO:0019200 True retinitis pigmentosa 66 retinitis pigmentosa UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0014087 MONDO:0015799 True Smith-McCort dysplasia 2 Smith-McCort dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0014088 MONDO:0015609 True advanced sleep phase syndrome 2 advanced sleep phase syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0014093 MONDO:0019200 True retinitis pigmentosa 66 retinitis pigmentosa UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS MONDO:0014094 MONDO:0000104 True severe congenital hypochromic anemia with ringed sideroblasts anemia, hypochromic microcytic with iron overload UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0014094 MONDO:0016624 True severe congenital hypochromic anemia with ringed sideroblasts inherited deficiency anemia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014094 MONDO:0020099 True severe congenital hypochromic anemia with ringed sideroblasts inherited sideroblastic anemia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0014095 MONDO:0016333 True dilated cardiomyopathy 1JJ familial dilated cardiomyopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0014098 MONDO:0020088 True CIDEC-related familial partial lipodystrophy familial partial lipodystrophy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0014098 MONDO:0020088 True CIDEC-related familial partial lipodystrophy familial partial lipodystrophy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS MONDO:0014100 MONDO:0016333 True dilated cardiomyopathy 1KK familial dilated cardiomyopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0014100 MONDO:0016340 True dilated cardiomyopathy 1KK familial restrictive cardiomyopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0014100 MONDO:0024573 True dilated cardiomyopathy 1KK familial hypertrophic cardiomyopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS MONDO:0014101 MONDO:0000171 True muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12 muscular dystrophy-dystroglycanopathy, type A UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS MONDO:0014104 MONDO:0009133 True cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 4 cerebellar ataxia, intellectual disability, and dysequilibrium UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0014108 MONDO:0019391 True Fanconi anemia complementation group Q Fanconi anemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0014112 MONDO:0015280 True cardiofaciocutaneous syndrome 2 cardiofaciocutaneous syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0014113 MONDO:0015280 True cardiofaciocutaneous syndrome 3 cardiofaciocutaneous syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0014114 MONDO:0015280 True cardiofaciocutaneous syndrome 4 cardiofaciocutaneous syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0014115 MONDO:0019046 True hypomyelination with brain stem and spinal cord involvement and leg spasticity leukodystrophy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING -MONDO:0014116 MONDO:0000904 True complex cortical dysplasia with other brain malformations 2 complex cortical dysplasia with other brain malformations UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0014117 MONDO:0018995 True Charcot-Marie-Tooth disease type 4B3 Charcot-Marie-Tooth disease type 4 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0014119 MONDO:0003847 True intellectual disability-strabismus syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0014108 MONDO:0019391 True Fanconi anemia complementation group Q Fanconi anemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0014112 MONDO:0015280 True cardiofaciocutaneous syndrome 2 cardiofaciocutaneous syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0014113 MONDO:0015280 True cardiofaciocutaneous syndrome 3 cardiofaciocutaneous syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0014114 MONDO:0015280 True cardiofaciocutaneous syndrome 4 cardiofaciocutaneous syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0014116 MONDO:0000904 True complex cortical dysplasia with other brain malformations 2 complex cortical dysplasia with other brain malformations UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS MONDO:0014120 MONDO:0000171 True muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13 muscular dystrophy-dystroglycanopathy, type A UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0014121 MONDO:0018190 True autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures autosomal dominant childhood-onset proximal spinal muscular atrophy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0014121 MONDO:0018190 True autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures autosomal dominant childhood-onset proximal spinal muscular atrophy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS MONDO:0014122 MONDO:0016824 True myofibromatosis, infantile, 2 infantile myofibromatosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0014123 MONDO:0016575 True primary ciliary dyskinesia 21 primary ciliary dyskinesia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0014123 MONDO:0016575 True primary ciliary dyskinesia 21 primary ciliary dyskinesia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS MONDO:0014124 MONDO:0007034 True Adams-Oliver syndrome 4 Adams-Oliver syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0014125 MONDO:0008511 True symphalangism, proximal, 1B proximal symphalangism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0014125 MONDO:0008511 True symphalangism, proximal, 1B proximal symphalangism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS MONDO:0014126 MONDO:0017312 True Perrault syndrome 4 Perrault syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0014127 MONDO:0018910 True oculocutaneous albinism type 5 oculocutaneous albinism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0014131 MONDO:0017666 True hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome diffuse palmoplantar keratoderma UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014132 MONDO:0017338 True multiple mitochondrial dysfunctions syndrome 3 fatal multiple mitochondrial dysfunctions syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0014127 MONDO:0018910 True oculocutaneous albinism type 5 oculocutaneous albinism UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0014132 MONDO:0017338 True multiple mitochondrial dysfunctions syndrome 3 fatal multiple mitochondrial dysfunctions syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS MONDO:0014134 MONDO:0017148 True pulmonary hypertension, primary, 2 heritable pulmonary arterial hypertension UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0014135 MONDO:0017148 True pulmonary hypertension, primary, 3 heritable pulmonary arterial hypertension UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0014136 MONDO:0017148 True pulmonary hypertension, primary, 4 heritable pulmonary arterial hypertension UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0014137 MONDO:0019165 True precocious puberty, central, 2 central precocious puberty UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0014137 MONDO:0019165 True precocious puberty, central, 2 central precocious puberty UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS MONDO:0014140 MONDO:0000171 True muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14 muscular dystrophy-dystroglycanopathy, type A UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0014141 MONDO:0000172 True muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B14 muscular dystrophy-dystroglycanopathy, type B UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0014141 MONDO:0000172 True muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B14 muscular dystrophy-dystroglycanopathy, type B UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS MONDO:0014142 MONDO:0000173 True autosomal recessive limb-girdle muscular dystrophy type 2T muscular dystrophy-dystroglycanopathy, type C UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0014142 MONDO:0015152 True autosomal recessive limb-girdle muscular dystrophy type 2T autosomal recessive limb-girdle muscular dystrophy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0014143 MONDO:0018997 True Noonan syndrome 8 Noonan syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0014144 MONDO:0015152 True autosomal recessive limb-girdle muscular dystrophy type R18 autosomal recessive limb-girdle muscular dystrophy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0014145 MONDO:0018998 True Leber congenital amaurosis 17 Leber congenital amaurosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0014146 MONDO:0018543 True autosomal dominant hypocalcemia 2 autosomal dominant hypocalcemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0014147 MONDO:0019260 True neuronal ceroid lipofuscinosis 13 adult neuronal ceroid lipofuscinosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014142 MONDO:0015152 True autosomal recessive limb-girdle muscular dystrophy type 2T autosomal recessive limb-girdle muscular dystrophy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0014143 MONDO:0018997 True Noonan syndrome 8 Noonan syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0014144 MONDO:0015152 True autosomal recessive limb-girdle muscular dystrophy type R18 autosomal recessive limb-girdle muscular dystrophy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0014145 MONDO:0018998 True Leber congenital amaurosis 17 Leber congenital amaurosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0014146 MONDO:0018543 True autosomal dominant hypocalcemia 2 autosomal dominant hypocalcemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS MONDO:0014149 MONDO:0017436 True fetal akinesia-cerebral and retinal hemorrhage syndrome lethal congenital contracture syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0014149 MONDO:0019952 True fetal akinesia-cerebral and retinal hemorrhage syndrome congenital myopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0014152 MONDO:0018901 True left ventricular noncompaction 8 left ventricular noncompaction UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0014153 MONDO:0015993 True cone-rod dystrophy 18 cone-rod dystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0014154 MONDO:0017058 True Charcot-Marie-Tooth disease recessive intermediate C autosomal recessive intermediate Charcot-Marie-Tooth disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014153 MONDO:0015993 True cone-rod dystrophy 18 cone-rod dystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS MONDO:0014155 MONDO:0018054 True atrial fibrillation, familial, 13 familial atrial fibrillation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0014156 MONDO:0018054 True atrial fibrillation, familial, 14 familial atrial fibrillation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0014157 MONDO:0019303 True mandibular hypoplasia-deafness-progeroid syndrome premature aging syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014158 MONDO:0019005 True nephronophthisis 16 nephronophthisis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0014159 MONDO:0015244 True autosomal recessive spinocerebellar ataxia 14 autosomal recessive cerebellar ataxia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0014160 MONDO:0018814 True TCR-alpha-beta-positive T-cell deficiency non-SCID combined immunodeficiency UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014158 MONDO:0019005 True nephronophthisis 16 nephronophthisis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0014159 MONDO:0015244 True autosomal recessive spinocerebellar ataxia 14 autosomal recessive cerebellar ataxia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS MONDO:0014161 MONDO:0017329 True vesicoureteral reflux 7 familial vesicoureteral reflux UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0014162 MONDO:0000732 True infantile hypertrophic cardiomyopathy due to MRPL44 deficiency combined oxidative phosphorylation deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0014162 MONDO:0000732 True infantile hypertrophic cardiomyopathy due to MRPL44 deficiency combined oxidative phosphorylation deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS MONDO:0014163 MONDO:0018901 True left ventricular noncompaction 10 left ventricular noncompaction UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0014164 MONDO:0018921 True Meckel syndrome, type 11 Meckel syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0014165 MONDO:0015327 True multiple congenital anomalies-hypotonia-seizures syndrome 3 developmental anomaly of metabolic origin UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014165 MONDO:0017748 True multiple congenital anomalies-hypotonia-seizures syndrome 3 inborn disorder of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014165 MONDO:0100247 True multiple congenital anomalies-hypotonia-seizures syndrome 3 multiple congenital anomalies-hypotonia-seizures syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0014165 MONDO:0100247 True multiple congenital anomalies-hypotonia-seizures syndrome 3 multiple congenital anomalies-hypotonia-seizures syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS MONDO:0014166 MONDO:0100244 True paroxysmal nocturnal hemoglobinuria 2 paroxysmal nocturnal hemoglobinuria UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0014167 MONDO:0000160 True epilepsy, familial adult myoclonic, 5 epilepsy, familial adult myoclonic UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0014168 MONDO:0044200 True severe combined immunodeficiency due to CORO1A deficiency T-B+ severe combined immunodeficiency UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014167 MONDO:0000160 True epilepsy, familial adult myoclonic, 5 epilepsy, familial adult myoclonic UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS MONDO:0014169 MONDO:0000736 True dyschromatosis universalis hereditaria 3 dyschromatosis universalis hereditaria UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0014170 MONDO:0000904 True complex cortical dysplasia with other brain malformations 3 complex cortical dysplasia with other brain malformations UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0014171 MONDO:0000904 True complex cortical dysplasia with other brain malformations 4 complex cortical dysplasia with other brain malformations UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0014172 MONDO:0004983 True spermatogenic failure 12 spermatogenic failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0014173 MONDO:0016660 True microcephaly 11, primary, autosomal recessive autosomal recessive primary microcephaly UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0014170 MONDO:0000904 True complex cortical dysplasia with other brain malformations 3 complex cortical dysplasia with other brain malformations UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0014171 MONDO:0000904 True complex cortical dysplasia with other brain malformations 4 complex cortical dysplasia with other brain malformations UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0014172 MONDO:0004983 True spermatogenic failure 12 spermatogenic failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0014173 MONDO:0016660 True microcephaly 11, primary, autosomal recessive autosomal recessive primary microcephaly UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS MONDO:0014174 MONDO:0017417 True renal-hepatic-pancreatic dysplasia 2 renal-hepatic-pancreatic dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0014175 MONDO:0018158 True mitochondrial DNA depletion syndrome 12B (cardiomyopathic type), autosomal recessive mitochondrial DNA depletion syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0014176 MONDO:0015159 True hypotonia, infantile, with psychomotor retardation and characteristic facies multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014176 MONDO:0024237 True hypotonia, infantile, with psychomotor retardation and characteristic facies inherited neurodegenerative disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014175 MONDO:0018158 True mitochondrial DNA depletion syndrome 12B (cardiomyopathic type), autosomal recessive mitochondrial DNA depletion syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS MONDO:0014177 MONDO:0001384 True myopia 22, autosomal dominant myopia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0014178 MONDO:0000507 True inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 2 inclusion body myopathy with Paget disease of bone and frontotemporal dementia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0014179 MONDO:0000507 True inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 3 inclusion body myopathy with Paget disease of bone and frontotemporal dementia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0014180 MONDO:0017610 True epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency epidermolysis bullosa simplex UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0014178 MONDO:0000507 True inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 2 inclusion body myopathy with Paget disease of bone and frontotemporal dementia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0014179 MONDO:0000507 True inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 3 inclusion body myopathy with Paget disease of bone and frontotemporal dementia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0014180 MONDO:0017610 True epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency epidermolysis bullosa simplex UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0014181 MONDO:0005144 True amyotrophic lateral sclerosis type 20 familial amyotrophic lateral sclerosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0014182 MONDO:0019588 True autosomal recessive nonsyndromic hearing loss 88 hearing loss, autosomal recessive UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0014182 MONDO:0019588 True autosomal recessive nonsyndromic hearing loss 88 hearing loss, autosomal recessive UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS MONDO:0014183 MONDO:0001384 True myopia 23, autosomal recessive myopia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0014184 MONDO:0000724 True specific language impairment 5 specific language impairment UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0014185 MONDO:0016902 True chromosome 3q13.31 deletion syndrome partial deletion of the long arm of chromosome 3 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014186 MONDO:0019200 True retinitis pigmentosa with or without situs inversus retinitis pigmentosa UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0014186 MONDO:0019200 True retinitis pigmentosa with or without situs inversus retinitis pigmentosa UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS MONDO:0014187 MONDO:0019625 True aortic aneurysm, familial thoracic 8 familial thoracic aortic aneurysm and aortic dissection UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0014190 MONDO:0000732 True combined oxidative phosphorylation defect type 17 combined oxidative phosphorylation deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0014191 MONDO:0017990 True catecholaminergic polymorphic ventricular tachycardia 5 catecholaminergic polymorphic ventricular tachycardia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0014192 MONDO:0016575 True primary ciliary dyskinesia 22 primary ciliary dyskinesia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0014193 MONDO:0016575 True primary ciliary dyskinesia 23 primary ciliary dyskinesia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0014190 MONDO:0000732 True combined oxidative phosphorylation defect type 17 combined oxidative phosphorylation deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0014191 MONDO:0017990 True catecholaminergic polymorphic ventricular tachycardia 5 catecholaminergic polymorphic ventricular tachycardia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0014192 MONDO:0016575 True primary ciliary dyskinesia 22 primary ciliary dyskinesia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0014193 MONDO:0016575 True primary ciliary dyskinesia 23 primary ciliary dyskinesia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS MONDO:0014194 MONDO:0020811 True mitochondrial complex III deficiency nuclear type 6 mitochondrial complex III deficiency, nuclear type UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0014196 MONDO:0015159 True Hartsfield-Bixler-Demyer syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014197 MONDO:0021094 True combined immunodeficiency due to MALT1 deficiency immunodeficiency disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0014198 MONDO:0016796 True mitochondrial DNA depletion syndrome 13 mitochondrial DNA depletion syndrome, encephalomyopathic form UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014199 MONDO:0100062 True developmental and epileptic encephalopathy, 17 developmental and epileptic encephalopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0014200 MONDO:0016525 True aldosterone-producing adenoma with seizures and neurological abnormalities familial hyperaldosteronism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING -MONDO:0014201 MONDO:0100062 True developmental and epileptic encephalopathy, 18 developmental and epileptic encephalopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0014202 MONDO:0016575 True primary ciliary dyskinesia 24 primary ciliary dyskinesia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0014203 MONDO:0016575 True primary ciliary dyskinesia 25 primary ciliary dyskinesia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0014199 MONDO:0100062 True developmental and epileptic encephalopathy, 17 developmental and epileptic encephalopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0014201 MONDO:0100062 True developmental and epileptic encephalopathy, 18 developmental and epileptic encephalopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0014202 MONDO:0016575 True primary ciliary dyskinesia 24 primary ciliary dyskinesia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0014203 MONDO:0016575 True primary ciliary dyskinesia 25 primary ciliary dyskinesia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS MONDO:0014204 MONDO:0008947 True basal ganglia calcification, idiopathic, 5 bilateral striopallidodentate calcinosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0014205 MONDO:0003847 True severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0014205 MONDO:0015159 True severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014207 MONDO:0005150 True age related macular degeneration 14 age-related macular degeneration UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0014208 MONDO:0018993 True Charcot-Marie-Tooth disease type 2R Charcot-Marie-Tooth disease type 2 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0014209 MONDO:0019064 True early-onset progressive neurodegeneration-blindness-ataxia-spasticity syndrome hereditary spastic paraplegia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0014210 MONDO:0003847 True intellectual disability-hypotonia-spasticity-sleep disorder syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0014211 MONDO:0016575 True primary ciliary dyskinesia 26 primary ciliary dyskinesia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0014212 MONDO:0020480 True sulfite oxidase deficiency due to molybdenum cofactor deficiency type C sulfite oxidase deficiency due to molybdenum cofactor deficiency UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0014213 MONDO:0015159 True intellectual disability-feeding difficulties-developmental delay-microcephaly syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014207 MONDO:0005150 True age related macular degeneration 14 age-related macular degeneration UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0014209 MONDO:0019064 True early-onset progressive neurodegeneration-blindness-ataxia-spasticity syndrome hereditary spastic paraplegia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0014211 MONDO:0016575 True primary ciliary dyskinesia 26 primary ciliary dyskinesia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0014212 MONDO:0020480 True sulfite oxidase deficiency due to molybdenum cofactor deficiency type C sulfite oxidase deficiency due to molybdenum cofactor deficiency UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS MONDO:0014213 MONDO:0100172 True intellectual disability-feeding difficulties-developmental delay-microcephaly syndrome intellectual disability, autosomal dominant UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0014214 MONDO:0018770 True short-rib thoracic dysplasia 8 with or without polydactyly Jeune syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0014215 MONDO:0016575 True primary ciliary dyskinesia 27 primary ciliary dyskinesia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0014216 MONDO:0016575 True primary ciliary dyskinesia 28 primary ciliary dyskinesia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0014214 MONDO:0018770 True short-rib thoracic dysplasia 8 with or without polydactyly Jeune syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0014215 MONDO:0016575 True primary ciliary dyskinesia 27 primary ciliary dyskinesia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0014216 MONDO:0016575 True primary ciliary dyskinesia 28 primary ciliary dyskinesia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS MONDO:0014217 MONDO:0019180 True telangiectasia, hereditary hemorrhagic, type 5 hereditary hemorrhagic telangiectasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0014219 MONDO:0006025 True alacrima, achalasia, and intellectual disability syndrome autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0014221 MONDO:0002908 True triosephosphate isomerase deficiency glucose metabolism disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0014221 MONDO:0017688 True triosephosphate isomerase deficiency disorder of glycolysis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014220 MONDO:0005336 True myopathy due to myoadenylate deaminase deficiency myopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014221 MONDO:0003689 True triosephosphate isomerase deficiency familial hemolytic anemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0014221 MONDO:0020585 True triosephosphate isomerase deficiency anemia due to erythrocyte enzyme disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014223 MONDO:0005144 True amyotrophic lateral sclerosis type 19 familial amyotrophic lateral sclerosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0014225 MONDO:0006507 True hemochromatosis type 5 hereditary hemochromatosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0014225 MONDO:0006507 True hemochromatosis type 5 hereditary hemochromatosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS MONDO:0014226 MONDO:0021094 True idiopathic CD4 lymphocytopenia immunodeficiency disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0014228 MONDO:0005321 True corneal dystrophy, Fuchs endothelial, 8 Fuchs' endothelial dystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0014229 MONDO:0016073 True microphthalmia, syndromic 12 syndromic microphthalmia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0014229 MONDO:0016073 True microphthalmia, syndromic 12 syndromic microphthalmia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS MONDO:0014230 MONDO:0015279 True candidiasis, familial, 8 chronic mucocutaneous candidiasis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0014233 MONDO:0017279 True early-onset Parkinson disease 20 young-onset Parkinson disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0014234 MONDO:0000118 True reticulate acropigmentation of Kitamura reticulate pigment disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0014234 MONDO:0019289 True reticulate acropigmentation of Kitamura hyperpigmentation of the skin UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014237 MONDO:0019588 True autosomal recessive nonsyndromic hearing loss 76 hearing loss, autosomal recessive UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0014238 MONDO:0003847 True severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0014238 MONDO:0015159 True severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014237 MONDO:0019588 True autosomal recessive nonsyndromic hearing loss 76 hearing loss, autosomal recessive UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS MONDO:0014240 MONDO:0020341 True periventricular nodular heterotopia 6 periventricular nodular heterotopia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0014242 MONDO:0017813 True van Maldergem syndrome 2 van Maldergem syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0014244 MONDO:0015364 True hereditary sensory and autonomic neuropathy type 7 hereditary sensory and autonomic neuropathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0014245 MONDO:0015253 True Diamond-Blackfan anemia 12 Diamond-Blackfan anemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0014246 MONDO:0018319 True episodic pain syndrome, familial, 2 familial episodic pain syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0014247 MONDO:0018319 True familial episodic pain syndrome with predominantly lower limb involvement familial episodic pain syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0014248 MONDO:0015327 True autism spectrum disorder - epilepsy - arthrogryposis syndrome developmental anomaly of metabolic origin UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014248 MONDO:0017740 True autism spectrum disorder - epilepsy - arthrogryposis syndrome disorder of protein N-glycosylation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014248 MONDO:0019942 True autism spectrum disorder - epilepsy - arthrogryposis syndrome distal arthrogryposis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING -MONDO:0014252 MONDO:0017774 True familial hypobetalipoproteinemia 1 hypobetalipoproteinemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0014242 MONDO:0017813 True van Maldergem syndrome 2 van Maldergem syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0014244 MONDO:0015364 True hereditary sensory and autonomic neuropathy type 7 hereditary sensory and autonomic neuropathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0014245 MONDO:0015253 True Diamond-Blackfan anemia 12 Diamond-Blackfan anemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0014246 MONDO:0018319 True episodic pain syndrome, familial, 2 familial episodic pain syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0014247 MONDO:0002254 True familial episodic pain syndrome with predominantly lower limb involvement syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0014247 MONDO:0018319 True familial episodic pain syndrome with predominantly lower limb involvement familial episodic pain syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS MONDO:0014254 MONDO:0008163 True otofaciocervical syndrome 2 otofaciocervical syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0014256 MONDO:0019200 True retinitis pigmentosa 67 retinitis pigmentosa UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0014259 MONDO:0015352 True neuronopathy, distal hereditary motor, type 2D distal hereditary motor neuropathy type 2 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0014260 MONDO:0015517 True immunodeficiency, common variable, 10 common variable immunodeficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0014261 MONDO:0000732 True growth and developmental delay-hypotonia-vision impairment-lactic acidosis syndrome combined oxidative phosphorylation deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0014262 MONDO:0018954 True Rienhoff syndrome Loeys-Dietz syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0014263 MONDO:0015159 True 8q24.3 microdeletion syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014263 MONDO:0016907 True 8q24.3 microdeletion syndrome partial deletion of the long arm of chromosome 8 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014256 MONDO:0019200 True retinitis pigmentosa 67 retinitis pigmentosa UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0014260 MONDO:0015517 True immunodeficiency, common variable, 10 common variable immunodeficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0014261 MONDO:0000732 True growth and developmental delay-hypotonia-vision impairment-lactic acidosis syndrome combined oxidative phosphorylation deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0014262 MONDO:0018954 True Rienhoff syndrome Loeys-Dietz syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS MONDO:0014264 MONDO:0005349 True otosclerosis 10 otosclerosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0014265 MONDO:0004975 True Alzheimer disease 18 Alzheimer disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0014267 MONDO:0044201 True severe combined immunodeficiency due to IKK2 deficiency T+ B+ severe combined immunodeficiency UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014268 MONDO:0021094 True combined immunodeficiency due to OX40 deficiency immunodeficiency disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0014269 MONDO:0000732 True combined oxidative phosphorylation deficiency 19 combined oxidative phosphorylation deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0014270 MONDO:0005500 True STT3A-congenital disorder of glycosylation congenital disorder of glycosylation type I UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0014270 MONDO:0017740 True STT3A-congenital disorder of glycosylation disorder of protein N-glycosylation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014271 MONDO:0005500 True STT3B-congenital disorder of glycosylation congenital disorder of glycosylation type I UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0014271 MONDO:0017740 True STT3B-congenital disorder of glycosylation disorder of protein N-glycosylation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014272 MONDO:0017666 True palmoplantar keratoderma, Nagashima type diffuse palmoplantar keratoderma UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014273 MONDO:0003847 True microcephaly-thin corpus callosum-intellectual disability syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0014273 MONDO:0015159 True microcephaly-thin corpus callosum-intellectual disability syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014274 MONDO:0005570 True L-ferritin deficiency hematologic disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014269 MONDO:0000732 True combined oxidative phosphorylation deficiency 19 combined oxidative phosphorylation deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0014270 MONDO:0005500 True STT3A-congenital disorder of glycosylation congenital disorder of glycosylation type I UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0014271 MONDO:0005500 True STT3B-congenital disorder of glycosylation congenital disorder of glycosylation type I UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS MONDO:0014276 MONDO:0021094 True combined immunodeficiency due to CD3gamma deficiency immunodeficiency disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0014277 MONDO:0000158 True developmental dysplasia of the hip 2 developmental dysplasia of the hip UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0014278 MONDO:0031520 True immunodeficiency 18 familial severe combined immunodeficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0014280 MONDO:0031520 True immunodeficiency 19 familial severe combined immunodeficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0014282 MONDO:0015149 True hereditary spastic paraplegia 72 pure hereditary spastic paraplegia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014283 MONDO:0019587 True autosomal dominant nonsyndromic hearing loss 56 autosomal dominant nonsyndromic hearing loss UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0014284 MONDO:0018770 True short-rib thoracic dysplasia 10 with or without polydactyly Jeune syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0014285 MONDO:0020337 True congenital dyserythropoietic anemia type type 1B congenital dyserythropoietic anemia type 1 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0014286 MONDO:0018213 True neuropathy, hereditary sensory, type 1F hereditary sensory and autonomic neuropathy type 1 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0014287 MONDO:0018770 True short-rib thoracic dysplasia 11 with or without polydactyly Jeune syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0014288 MONDO:0018772 True Joubert syndrome 21 Joubert syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0014289 MONDO:0003847 True macrocephaly-developmental delay syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0014289 MONDO:0015159 True macrocephaly-developmental delay syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014290 MONDO:0018307 True neurodegeneration with brain iron accumulation 6 neurodegeneration with brain iron accumulation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0014291 MONDO:0019587 True autosomal dominant nonsyndromic hearing loss 54 autosomal dominant nonsyndromic hearing loss UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0014292 MONDO:0019046 True leukoencephalopathy with mild cerebellar ataxia and white matter edema leukodystrophy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING -MONDO:0014293 MONDO:0019587 True autosomal dominant nonsyndromic hearing loss 58 autosomal dominant nonsyndromic hearing loss UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0014294 MONDO:0016913 True chromosome 15q11.2 deletion syndrome partial deletion of the long arm of chromosome 15 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014295 MONDO:0015150 True hereditary spastic paraplegia 57 complex hereditary spastic paraplegia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014296 MONDO:0016649 True Warburg micro syndrome 4 Warburg micro syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0014297 MONDO:0018772 True Joubert syndrome 22 Joubert syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0014298 MONDO:0015159 True chromosome 5q12 deletion syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014283 MONDO:0019587 True autosomal dominant nonsyndromic hearing loss 56 autosomal dominant nonsyndromic hearing loss UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0014284 MONDO:0018770 True short-rib thoracic dysplasia 10 with or without polydactyly Jeune syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0014287 MONDO:0018770 True short-rib thoracic dysplasia 11 with or without polydactyly Jeune syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0014288 MONDO:0018772 True Joubert syndrome 21 Joubert syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0014290 MONDO:0018307 True neurodegeneration with brain iron accumulation 6 neurodegeneration with brain iron accumulation UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0014291 MONDO:0019587 True autosomal dominant nonsyndromic hearing loss 54 autosomal dominant nonsyndromic hearing loss UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0014293 MONDO:0019587 True autosomal dominant nonsyndromic hearing loss 58 autosomal dominant nonsyndromic hearing loss UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0014296 MONDO:0016649 True Warburg micro syndrome 4 Warburg micro syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0014297 MONDO:0018772 True Joubert syndrome 22 Joubert syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS MONDO:0014299 MONDO:0008075 True schwannomatosis 2 schwannomatosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0014300 MONDO:0005336 True proximal myopathy with extrapyramidal signs myopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0014302 MONDO:0015149 True hereditary spastic paraplegia 62 pure hereditary spastic paraplegia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014303 MONDO:0015150 True hereditary spastic paraplegia 64 complex hereditary spastic paraplegia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014304 MONDO:0015150 True hereditary spastic paraplegia 61 complex hereditary spastic paraplegia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014305 MONDO:0015150 True hereditary spastic paraplegia 63 complex hereditary spastic paraplegia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014306 MONDO:0018882 True vasculitis due to ADA2 deficiency vasculitis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014308 MONDO:0005115 True familial temporal lobe epilepsy 6 temporal lobe epilepsy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0014309 MONDO:0020075 True obesity due to CEP19 deficiency hereditary non-syndromic obesity UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014310 MONDO:0016382 True hereditary sclerosing poikiloderma with tendon and pulmonary involvement hereditary poikiloderma UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014311 MONDO:0018446 True autosomal recessive spinocerebellar ataxia 15 autosomal recessive cerebellar ataxia - epilepsy - intellectual disability syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014308 MONDO:0005115 True familial temporal lobe epilepsy 6 temporal lobe epilepsy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS MONDO:0014312 MONDO:0000107 True auriculocondylar syndrome 3 auriculocondylar syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0014313 MONDO:0003778 True autosomal recessive primary immunodeficiency with defective spontaneous natural killer cell cytotoxicity inborn error of immunity UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0014314 MONDO:0018075 True sacral agenesis-abnormal ossification of the vertebral bodies-persistent notochordal canal syndrome neural tube defect UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014316 MONDO:0004975 True Alzheimer disease 19 Alzheimer disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0014317 MONDO:0000159 True pancytopenia-developmental delay syndrome bone marrow failure syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0014317 MONDO:0001713 True pancytopenia-developmental delay syndrome inherited aplastic anemia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014318 MONDO:0016596 True hyperphosphatasia with intellectual disability syndrome 4 hyperphosphatasia-intellectual disability syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0014319 MONDO:0018470 True renal hypodysplasia/aplasia 2 renal agenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0014320 MONDO:0003847 True Bosch-Boonstra-Schaaf optic atrophy syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0014321 MONDO:0019852 True premature ovarian failure 8 inherited primary ovarian failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0014322 MONDO:0019852 True premature ovarian failure 9 inherited primary ovarian failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0014323 MONDO:0019200 True retinitis pigmentosa 68 retinitis pigmentosa UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0014323 MONDO:0019200 True retinitis pigmentosa 68 retinitis pigmentosa UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS MONDO:0014324 MONDO:0016471 True pachyonychia congenita 3 pachyonychia congenita UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0014325 MONDO:0016471 True pachyonychia congenita 4 pachyonychia congenita UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0014327 MONDO:0019272 True palmoplantar keratoderma, nonepidermolytic, focal or diffuse hereditary palmoplantar keratoderma UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014328 MONDO:0100062 True developmental and epileptic encephalopathy, 19 developmental and epileptic encephalopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0014328 MONDO:0100062 True developmental and epileptic encephalopathy, 19 developmental and epileptic encephalopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS MONDO:0014331 MONDO:0016820 True Moyamoya disease with early-onset achalasia Moyamoya disease UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0014332 MONDO:0019225 True hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency disorder of gluconeogenesis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014334 MONDO:0017855 True severe combined immunodeficiency due to LCK deficiency T-B- severe combined immunodeficiency UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014336 MONDO:0000426 True intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0014336 MONDO:0015159 True intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014337 MONDO:0000904 True complex cortical dysplasia with other brain malformations 5 complex cortical dysplasia with other brain malformations UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0014338 MONDO:0015517 True IL21-related infantile inflammatory bowel disease common variable immunodeficiency UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0014339 MONDO:0015244 True autosomal recessive spinocerebellar ataxia 16 autosomal recessive cerebellar ataxia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0014337 MONDO:0000904 True complex cortical dysplasia with other brain malformations 5 complex cortical dysplasia with other brain malformations UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0014338 MONDO:0015517 True IL21-related infantile inflammatory bowel disease common variable immunodeficiency UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0014339 MONDO:0015244 True autosomal recessive spinocerebellar ataxia 16 autosomal recessive cerebellar ataxia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS MONDO:0014340 MONDO:0018054 True atrial fibrillation, familial, 15 familial atrial fibrillation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0014341 MONDO:0000904 True complex cortical dysplasia with other brain malformations 6 complex cortical dysplasia with other brain malformations UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0014341 MONDO:0000904 True complex cortical dysplasia with other brain malformations 6 complex cortical dysplasia with other brain malformations UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS MONDO:0014342 MONDO:0014769 True female infertility due to zona pellucida defect inherited oocyte maturation defect UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0014343 MONDO:0015426 True Desbuquois dysplasia 2 Desbuquois dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0014345 MONDO:0019200 True retinitis pigmentosa 69 retinitis pigmentosa UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0014346 MONDO:0015748 True white sponge nevus 2 hereditary mucosal leukokeratosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0014349 MONDO:0020135 True pontocerebellar hypoplasia type 10 pontocerebellar hypoplasia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0014350 MONDO:0019342 True Seckel syndrome 8 Seckel syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0014351 MONDO:0020135 True pontocerebellar hypoplasia type 9 pontocerebellar hypoplasia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0014352 MONDO:0000816 True abdominal obesity-metabolic syndrome 3 abdominal obesity-metabolic syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0014353 MONDO:0017749 True immunodeficiency 23 disorder of multiple glycosylation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014345 MONDO:0019200 True retinitis pigmentosa 69 retinitis pigmentosa UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0014346 MONDO:0015748 True white sponge nevus 2 hereditary mucosal leukokeratosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0014349 MONDO:0020135 True pontocerebellar hypoplasia type 10 pontocerebellar hypoplasia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0014350 MONDO:0019342 True Seckel syndrome 8 Seckel syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0014351 MONDO:0020135 True pontocerebellar hypoplasia type 9 pontocerebellar hypoplasia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0014352 MONDO:0000816 True abdominal obesity-metabolic syndrome 3 abdominal obesity-metabolic syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS MONDO:0014353 MONDO:0021094 True immunodeficiency 23 immunodeficiency disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0014354 MONDO:0019502 True intellectual disability, autosomal recessive 43 autosomal recessive non-syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0014354 MONDO:0019502 True intellectual disability, autosomal recessive 43 autosomal recessive non-syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS MONDO:0014356 MONDO:0020811 True mitochondrial complex III deficiency nuclear type 7 mitochondrial complex III deficiency, nuclear type UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0014357 MONDO:0100172 True intellectual disability, autosomal dominant 24 intellectual disability, autosomal dominant UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0014359 MONDO:0015999 True pigmented nodular adrenocortical disease, primary, 4 primary pigmented nodular adrenocortical disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0014361 MONDO:0015159 True autism spectrum disorder due to AUTS2 deficiency multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014361 MONDO:0100172 True autism spectrum disorder due to AUTS2 deficiency intellectual disability, autosomal dominant UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0014363 MONDO:0019588 True autosomal recessive nonsyndromic hearing loss 101 hearing loss, autosomal recessive UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0014363 MONDO:0019588 True autosomal recessive nonsyndromic hearing loss 101 hearing loss, autosomal recessive UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS MONDO:0014364 MONDO:0020811 True mitochondrial complex III deficiency nuclear type 8 mitochondrial complex III deficiency, nuclear type UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0014365 MONDO:0004983 True spermatogenic failure 13 spermatogenic failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0014366 MONDO:0004983 True spermatogenic failure 14 spermatogenic failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0014365 MONDO:0004983 True spermatogenic failure 13 spermatogenic failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0014366 MONDO:0004983 True spermatogenic failure 14 spermatogenic failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS MONDO:0014367 MONDO:0018866 True Aicardi-Goutieres syndrome 7 Aicardi-Goutieres syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0014369 MONDO:0000426 True postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0014369 MONDO:0002254 True postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0014369 MONDO:0018234 True postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome dysostosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0014369 MONDO:0018762 True postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome non-acquired combined pituitary hormone deficiency UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014369 MONDO:0019054 True postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome congenital limb malformation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014370 MONDO:0020135 True pontocerebellar hypoplasia type 2E pontocerebellar hypoplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0014371 MONDO:0015159 True developmental and epileptic encephalopathy, 23 multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014371 MONDO:0100062 True developmental and epileptic encephalopathy, 23 developmental and epileptic encephalopathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0014372 MONDO:0015993 True cone-rod dystrophy 19 cone-rod dystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0014374 MONDO:0019005 True nephronophthisis 18 nephronophthisis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0014375 MONDO:0000824 True congenital diarrhea 7 with exudative enteropathy congenital diarrhea UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0014376 MONDO:0000426 True intellectual disability, autosomal dominant 27 autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0014376 MONDO:0015452 True intellectual disability, autosomal dominant 27 Coffin-Siris syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0014378 MONDO:0016575 True primary ciliary dyskinesia 29 primary ciliary dyskinesia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0014379 MONDO:0015159 True ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014380 MONDO:0016073 True colobomatous microphthalmia-rhizomelic dysplasia syndrome syndromic microphthalmia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0014380 MONDO:0018230 True colobomatous microphthalmia-rhizomelic dysplasia syndrome skeletal dysplasia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014381 MONDO:0015762 True cholestasis, progressive familial intrahepatic, 4 progressive familial intrahepatic cholestasis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0014382 MONDO:0015159 True Tatton-Brown-Rahman overgrowth syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014368 MONDO:0024462 True tumor predisposition syndrome 3 susceptibility to familial cutaneous melanoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0014370 MONDO:0020135 True pontocerebellar hypoplasia type 2E pontocerebellar hypoplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0014371 MONDO:0100062 True developmental and epileptic encephalopathy, 23 developmental and epileptic encephalopathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0014372 MONDO:0015993 True cone-rod dystrophy 19 cone-rod dystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0014374 MONDO:0019005 True nephronophthisis 18 nephronophthisis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0014375 MONDO:0000824 True congenital diarrhea 7 with exudative enteropathy congenital diarrhea UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0014376 MONDO:0015452 True intellectual disability, autosomal dominant 27 Coffin-Siris syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0014378 MONDO:0016575 True primary ciliary dyskinesia 29 primary ciliary dyskinesia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0014380 MONDO:0016073 True colobomatous microphthalmia-rhizomelic dysplasia syndrome syndromic microphthalmia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0014381 MONDO:0015762 True cholestasis, progressive familial intrahepatic, 4 progressive familial intrahepatic cholestasis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS MONDO:0014383 MONDO:0008051 True myopathy, tubular aggregate, 2 tubular aggregate myopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0014384 MONDO:0003037 True hypotrichosis 12 hypotrichosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0014386 MONDO:0000009 True platelet-type bleeding disorder 18 inherited bleeding disorder, platelet-type UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0014386 MONDO:0021181 True platelet-type bleeding disorder 18 inherited blood coagulation disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014388 MONDO:0000358 True familial median cleft of the upper and lower lips orofacial cleft UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0014384 MONDO:0003037 True hypotrichosis 12 hypotrichosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0014386 MONDO:0000009 True platelet-type bleeding disorder 18 inherited bleeding disorder, platelet-type UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0014388 MONDO:0000358 True familial median cleft of the upper and lower lips orofacial cleft UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS MONDO:0014389 MONDO:0000192 True polyglucosan body myopathy 1 with or without immunodeficiency polyglucosan body myopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0014389 MONDO:0002412 True polyglucosan body myopathy 1 with or without immunodeficiency disorder of glycogen metabolism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING -MONDO:0014390 MONDO:0003037 True hypotrichosis 13 hypotrichosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0014391 MONDO:0044201 True severe combined immunodeficiency due to CTPS1 deficiency T+ B+ severe combined immunodeficiency UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014393 MONDO:0019313 True lymphatic malformation 4 lymphatic malformation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0014394 MONDO:0015253 True Diamond-Blackfan anemia 13 Diamond-Blackfan anemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0014390 MONDO:0003037 True hypotrichosis 13 hypotrichosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0014393 MONDO:0019313 True lymphatic malformation 4 lymphatic malformation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0014394 MONDO:0015253 True Diamond-Blackfan anemia 13 Diamond-Blackfan anemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS MONDO:0014395 MONDO:0005144 True frontotemporal dementia and/or amyotrophic lateral sclerosis 2 familial amyotrophic lateral sclerosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0014395 MONDO:0017161 True frontotemporal dementia and/or amyotrophic lateral sclerosis 2 frontotemporal dementia with motor neuron disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0014396 MONDO:0016333 True dilated cardiomyopathy 1NN familial dilated cardiomyopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0014397 MONDO:0000732 True combined oxidative phosphorylation defect type 20 combined oxidative phosphorylation deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0014398 MONDO:0000732 True combined oxidative phosphorylation defect type 21 combined oxidative phosphorylation deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0014397 MONDO:0000732 True combined oxidative phosphorylation defect type 20 combined oxidative phosphorylation deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0014398 MONDO:0000732 True combined oxidative phosphorylation defect type 21 combined oxidative phosphorylation deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS MONDO:0014399 MONDO:0011457 True ataxia-telangiectasia-like disorder 2 ataxia-telangiectasia-like disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0014400 MONDO:0019200 True retinitis pigmentosa 70 retinitis pigmentosa UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0014401 MONDO:0018230 True tall stature-scoliosis-macrodactyly of the great toes syndrome skeletal dysplasia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014402 MONDO:0020087 True severe neurodegenerative syndrome with lipodystrophy hereditary lipodystrophy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014402 MONDO:0024237 True severe neurodegenerative syndrome with lipodystrophy inherited neurodegenerative disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014403 MONDO:0019824 True short stature due to GHSR deficiency non-acquired pituitary hormone deficiency UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014405 MONDO:0019751 True STING-associated vasculopathy with onset in infancy autoinflammatory syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014400 MONDO:0019200 True retinitis pigmentosa 70 retinitis pigmentosa UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS MONDO:0014406 MONDO:0009832 True pancreatic agenesis 2 pancreatic agenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0014407 MONDO:0019375 True megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0014408 MONDO:0019375 True megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3 megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0014409 MONDO:0019502 True intellectual disability, autosomal recessive 44 autosomal recessive non-syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0014410 MONDO:0019792 True spinocerebellar ataxia type 37 autosomal dominant cerebellar ataxia type I UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014409 MONDO:0019502 True intellectual disability, autosomal recessive 44 autosomal recessive non-syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS MONDO:0014411 MONDO:0001384 True myopia 24, autosomal dominant myopia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0014412 MONDO:0001336 True hyperlipoproteinemia, type 1D familial hyperlipidemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0014412 MONDO:0006025 True hyperlipoproteinemia, type 1D autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0014412 MONDO:0018637 True hyperlipoproteinemia, type 1D familial chylomicronemia syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0014413 MONDO:0015159 True orofaciodigital syndrome type 14 multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014413 MONDO:0015375 True orofaciodigital syndrome type 14 orofaciodigital syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0014413 MONDO:0015375 True orofaciodigital syndrome type 14 orofaciodigital syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0014414 MONDO:0000213 True STAT3-related early-onset multisystem autoimmune disease autoimmune disease, multisystem, infantile-onset UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0014416 MONDO:0009049 True ACTH-independent macronodular adrenal hyperplasia 2 Cushing syndrome due to macronodular adrenal hyperplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0014417 MONDO:0018117 True spinocerebellar ataxia type 38 disorder of phospholipids, sphingolipids and fatty acids biosynthesis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014417 MONDO:0019793 True spinocerebellar ataxia type 38 autosomal dominant cerebellar ataxia type III UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014418 MONDO:0015705 True myopathy, centronuclear, 5 autosomal recessive centronuclear myopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0014419 MONDO:0020022 True ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome central nervous system malformation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014420 MONDO:0015892 True short stature due to primary acid-labile subunit deficiency growth hormone insensitivity syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014421 MONDO:0015898 True glucocorticoid resistance adrenogenital syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014422 MONDO:0017329 True vesicoureteral reflux 8 familial vesicoureteral reflux UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0014423 MONDO:0017855 True severe combined immunodeficiency due to DNA-PKcs deficiency T-B- severe combined immunodeficiency UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014426 MONDO:0005514 True nanophthalmos 4 nanophthalmia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0014427 MONDO:0015993 True cone-rod dystrophy 20 cone-rod dystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0014428 MONDO:0019588 True autosomal recessive nonsyndromic hearing loss 102 hearing loss, autosomal recessive UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0014429 MONDO:0019146 True autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency inherited susceptibility to mycobacterial diseases UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014430 MONDO:0019502 True intellectual disability, autosomal recessive 45 autosomal recessive non-syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0014431 MONDO:0020088 True LIPE-related familial partial lipodystrophy familial partial lipodystrophy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0014432 MONDO:0015229 True Bardet-Biedl syndrome 2 Bardet-Biedl syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0014433 MONDO:0015229 True Bardet-Biedl syndrome 4 Bardet-Biedl syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0014434 MONDO:0015229 True Bardet-Biedl syndrome 5 Bardet-Biedl syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0014435 MONDO:0015229 True Bardet-Biedl syndrome 7 Bardet-Biedl syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0014436 MONDO:0015229 True Bardet-Biedl syndrome 8 Bardet-Biedl syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0014437 MONDO:0015229 True Bardet-Biedl syndrome 9 Bardet-Biedl syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0014438 MONDO:0015229 True Bardet-Biedl syndrome 10 Bardet-Biedl syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0014439 MONDO:0015229 True Bardet-Biedl syndrome 11 Bardet-Biedl syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0014440 MONDO:0015229 True Bardet-Biedl syndrome 12 Bardet-Biedl syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0014441 MONDO:0015229 True Bardet-Biedl syndrome 13 Bardet-Biedl syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0014442 MONDO:0015229 True Bardet-Biedl syndrome 14 Bardet-Biedl syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0014443 MONDO:0015229 True Bardet-Biedl syndrome 15 Bardet-Biedl syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0014444 MONDO:0015229 True Bardet-Biedl syndrome 16 Bardet-Biedl syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0014445 MONDO:0015229 True Bardet-Biedl syndrome 17 Bardet-Biedl syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0014446 MONDO:0015229 True Bardet-Biedl syndrome 18 Bardet-Biedl syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0014447 MONDO:0015229 True Bardet-Biedl syndrome 19 Bardet-Biedl syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0014427 MONDO:0015993 True cone-rod dystrophy 20 cone-rod dystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0014428 MONDO:0019588 True autosomal recessive nonsyndromic hearing loss 102 hearing loss, autosomal recessive UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0014430 MONDO:0019502 True intellectual disability, autosomal recessive 45 autosomal recessive non-syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0014431 MONDO:0020088 True LIPE-related familial partial lipodystrophy familial partial lipodystrophy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0014432 MONDO:0015229 True Bardet-Biedl syndrome 2 Bardet-Biedl syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0014433 MONDO:0015229 True Bardet-Biedl syndrome 4 Bardet-Biedl syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0014434 MONDO:0015229 True Bardet-Biedl syndrome 5 Bardet-Biedl syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0014435 MONDO:0015229 True Bardet-Biedl syndrome 7 Bardet-Biedl syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0014436 MONDO:0015229 True Bardet-Biedl syndrome 8 Bardet-Biedl syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0014437 MONDO:0015229 True Bardet-Biedl syndrome 9 Bardet-Biedl syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0014438 MONDO:0015229 True Bardet-Biedl syndrome 10 Bardet-Biedl syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0014439 MONDO:0015229 True Bardet-Biedl syndrome 11 Bardet-Biedl syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0014440 MONDO:0015229 True Bardet-Biedl syndrome 12 Bardet-Biedl syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0014441 MONDO:0015229 True Bardet-Biedl syndrome 13 Bardet-Biedl syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0014442 MONDO:0015229 True Bardet-Biedl syndrome 14 Bardet-Biedl syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0014443 MONDO:0015229 True Bardet-Biedl syndrome 15 Bardet-Biedl syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0014444 MONDO:0015229 True Bardet-Biedl syndrome 16 Bardet-Biedl syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0014445 MONDO:0015229 True Bardet-Biedl syndrome 17 Bardet-Biedl syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0014446 MONDO:0015229 True Bardet-Biedl syndrome 18 Bardet-Biedl syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0014447 MONDO:0015229 True Bardet-Biedl syndrome 19 Bardet-Biedl syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0014448 MONDO:0004425 True hyperthyroxinemia, familial dysalbuminemic hyperthyroidism UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014450 MONDO:0015855 True breasts and/or nipples, aplasia or hypoplasia of, 2 isolated congenital breast hypoplasia/aplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0014451 MONDO:0005363 True focal segmental glomerulosclerosis 7 inherited focal segmental glomerulosclerosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0014452 MONDO:0018060 True familial dysfibrinogenemia congenital fibrinogen deficiency UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014454 MONDO:0016256 True Hennekam lymphangiectasia-lymphedema syndrome 2 Hennekam syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0014455 MONDO:0015514 True cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome hereditary endocrine growth disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014455 MONDO:0016387 True cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome mitochondrial oxidative phosphorylation disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014455 MONDO:0020127 True cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome hereditary peripheral neuropathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014456 MONDO:0028226 True autosomal recessive severe congenital neutropenia due to JAGN1 deficiency autosomal recessive severe congenital neutropenia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014457 MONDO:0016596 True hyperphosphatasia with intellectual disability syndrome 5 hyperphosphatasia-intellectual disability syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0014458 MONDO:0100238 True Fanconi renotubular syndrome 4 with maturity-onset diabetes of the young inherited Fanconi renotubular syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0014459 MONDO:0007034 True Adams-Oliver syndrome 5 Adams-Oliver syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0014460 MONDO:0017672 True nail and teeth abnormalities-marginal palmoplantar keratoderma-oral hyperpigmentation syndrome focal palmoplantar keratoderma UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014460 MONDO:0019287 True nail and teeth abnormalities-marginal palmoplantar keratoderma-oral hyperpigmentation syndrome ectodermal dysplasia syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING -MONDO:0014460 MONDO:0019289 True nail and teeth abnormalities-marginal palmoplantar keratoderma-oral hyperpigmentation syndrome hyperpigmentation of the skin UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014462 MONDO:0005363 True focal segmental glomerulosclerosis 8 inherited focal segmental glomerulosclerosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0014464 MONDO:0018117 True progressive encephalopathy with leukodystrophy due to DECR deficiency disorder of phospholipids, sphingolipids and fatty acids biosynthesis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014464 MONDO:0019046 True progressive encephalopathy with leukodystrophy due to DECR deficiency leukodystrophy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING -MONDO:0014465 MONDO:0016575 True primary ciliary dyskinesia 30 primary ciliary dyskinesia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0014466 MONDO:0000179 True Neu-Laxova syndrome 2 Neu-Laxova syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0014467 MONDO:0016387 True Charcot-Marie-Tooth disease recessive intermediate D mitochondrial oxidative phosphorylation disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014467 MONDO:0017058 True Charcot-Marie-Tooth disease recessive intermediate D autosomal recessive intermediate Charcot-Marie-Tooth disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014468 MONDO:0018940 True congenital myasthenic syndrome 7 congenital myasthenic syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0014469 MONDO:0019588 True autosomal recessive nonsyndromic hearing loss 103 hearing loss, autosomal recessive UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0014470 MONDO:0019587 True autosomal dominant nonsyndromic hearing loss 65 autosomal dominant nonsyndromic hearing loss UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0014472 MONDO:0017953 True periodic fever-infantile enterocolitis-autoinflammatory syndrome hereditary periodic fever syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014473 MONDO:0016660 True microcephaly 13, primary, autosomal recessive autosomal recessive primary microcephaly UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0014465 MONDO:0016575 True primary ciliary dyskinesia 30 primary ciliary dyskinesia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0014466 MONDO:0000179 True Neu-Laxova syndrome 2 Neu-Laxova syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0014468 MONDO:0018940 True congenital myasthenic syndrome 7 congenital myasthenic syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0014469 MONDO:0019588 True autosomal recessive nonsyndromic hearing loss 103 hearing loss, autosomal recessive UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0014470 MONDO:0019587 True autosomal dominant nonsyndromic hearing loss 65 autosomal dominant nonsyndromic hearing loss UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0014473 MONDO:0016660 True microcephaly 13, primary, autosomal recessive autosomal recessive primary microcephaly UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS MONDO:0014474 MONDO:0000173 True autosomal recessive limb-girdle muscular dystrophy type 2U muscular dystrophy-dystroglycanopathy, type C UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0014474 MONDO:0015152 True autosomal recessive limb-girdle muscular dystrophy type 2U autosomal recessive limb-girdle muscular dystrophy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0014475 MONDO:0019792 True spinocerebellar ataxia type 40 autosomal dominant cerebellar ataxia type I UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014476 MONDO:0016227 True episodic ataxia type 8 hereditary episodic ataxia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0014474 MONDO:0015152 True autosomal recessive limb-girdle muscular dystrophy type 2U autosomal recessive limb-girdle muscular dystrophy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0014476 MONDO:0016227 True episodic ataxia type 8 hereditary episodic ataxia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS MONDO:0014478 MONDO:0016558 True mirror movements 3 familial congenital mirror movements UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0014480 MONDO:0010765 True 46,XY sex reversal 9 46,XY complete gonadal dysgenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0014480 MONDO:0010765 True 46,XY sex reversal 9 46,XY complete gonadal dysgenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS MONDO:0014481 MONDO:0017411 True inflammatory skin and bowel disease, neonatal, 2 neonatal inflammatory skin and bowel disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0014482 MONDO:0000426 True intellectual disability, autosomal dominant 29 autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0014483 MONDO:0019118 True retinal dystrophy with inner retinal dysfunction and ganglion cell anomalies inherited retinal dystrophy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014484 MONDO:0016660 True microcephaly 12, primary, autosomal recessive autosomal recessive primary microcephaly UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0014485 MONDO:0016396 True pontocerebellar hypoplasia, type 1C pontocerebellar hypoplasia type 1 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0014486 MONDO:0000426 True intellectual disability, autosomal dominant 30 autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0014487 MONDO:0020099 True congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome inherited sideroblastic anemia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0014484 MONDO:0016660 True microcephaly 12, primary, autosomal recessive autosomal recessive primary microcephaly UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS MONDO:0014489 MONDO:0000173 True limb-girdle muscular dystrophy due to POMK deficiency muscular dystrophy-dystroglycanopathy, type C UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0014489 MONDO:0015152 True limb-girdle muscular dystrophy due to POMK deficiency autosomal recessive limb-girdle muscular dystrophy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS -MONDO:0014489 MONDO:0016155 True limb-girdle muscular dystrophy due to POMK deficiency qualitative or quantitative defects of protein involved in O-glycosylation of alpha-dystroglycan UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014490 MONDO:0019223 True ketoacidosis due to monocarboxylate transporter-1 deficiency disorder of fatty acid and ketone body metabolism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014491 MONDO:0003778 True immunodeficiency 37 inborn error of immunity UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0014492 MONDO:0017672 True wooly hair-palmoplantar keratoderma syndrome focal palmoplantar keratoderma UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014496 MONDO:0020811 True mitochondrial complex III deficiency nuclear type 9 mitochondrial complex III deficiency, nuclear type UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0014497 MONDO:0015770 True polyendocrine-polyneuropathy syndrome congenital hypogonadotropic hypogonadism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014498 MONDO:0018768 True familial cold autoinflammatory syndrome 4 familial cold autoinflammatory syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0014499 MONDO:0019502 True intellectual disability, autosomal recessive 46 autosomal recessive non-syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0014502 MONDO:0019146 True Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency inherited susceptibility to mycobacterial diseases UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014503 MONDO:0020043 True autosomal recessive spinocerebellar ataxia 17 autosomal recessive congenital cerebellar ataxia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014498 MONDO:0018768 True familial cold autoinflammatory syndrome 4 familial cold autoinflammatory syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0014499 MONDO:0019502 True intellectual disability, autosomal recessive 46 autosomal recessive non-syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS MONDO:0014504 MONDO:0017312 True Perrault syndrome 5 Perrault syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0014505 MONDO:0100062 True developmental and epileptic encephalopathy, 27 developmental and epileptic encephalopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0014506 MONDO:0019046 True hypomyelinating leukodystrophy 9 leukodystrophy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0014507 MONDO:0015159 True Catel-Manzke syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014510 MONDO:0019701 True fatty acyl-CoA reductase 1 deficiency chondrodysplasia punctata UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0014511 MONDO:0018993 True Charcot-Marie-Tooth disease axonal type 2S Charcot-Marie-Tooth disease type 2 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0014512 MONDO:0000426 True PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0014505 MONDO:0100062 True developmental and epileptic encephalopathy, 27 developmental and epileptic encephalopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0014506 MONDO:0019046 True hypomyelinating leukodystrophy 9 leukodystrophy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS MONDO:0014514 MONDO:0019625 True aortic aneurysm, familial thoracic 9 familial thoracic aortic aneurysm and aortic dissection UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0014516 MONDO:0000181 True microcephaly and chorioretinopathy 2 microcephaly and chorioretinopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0014516 MONDO:0006025 True microcephaly and chorioretinopathy 2 autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0014517 MONDO:0018214 True generalized epilepsy with febrile seizures plus, type 9 generalized epilepsy with febrile seizures plus UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0014518 MONDO:0000009 True platelet-type bleeding disorder 19 inherited bleeding disorder, platelet-type UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0014520 MONDO:0019852 True 46,XX ovarian dysgenesis-short stature syndrome inherited primary ovarian failure UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING -MONDO:0014521 MONDO:0020074 True progressive myoclonic epilepsy type 7 progressive myoclonus epilepsy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0014523 MONDO:0100309 True juvenile-onset diabetes mellitus-central and peripheral neurodegeneration syndrome hereditary ataxia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014524 MONDO:0019502 True intellectual disability, autosomal recessive 47 autosomal recessive non-syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0014525 MONDO:0000732 True combined oxidative phosphorylation defect type 23 combined oxidative phosphorylation deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0014517 MONDO:0018214 True generalized epilepsy with febrile seizures plus, type 9 generalized epilepsy with febrile seizures plus UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0014518 MONDO:0000009 True platelet-type bleeding disorder 19 inherited bleeding disorder, platelet-type UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0014521 MONDO:0020074 True progressive myoclonic epilepsy type 7 progressive myoclonus epilepsy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0014524 MONDO:0019502 True intellectual disability, autosomal recessive 47 autosomal recessive non-syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0014525 MONDO:0000732 True combined oxidative phosphorylation defect type 23 combined oxidative phosphorylation deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS MONDO:0014526 MONDO:0000192 True polyglucosan body myopathy type 2 polyglucosan body myopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0014527 MONDO:0015356 True progeroid features-hepatocellular carcinoma predisposition syndrome hereditary neoplastic syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014528 MONDO:0002254 True chronic atrial and intestinal dysrhythmia syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0014529 MONDO:0003847 True cerebellar-facial-dental syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0014529 MONDO:0015159 True cerebellar-facial-dental syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014529 MONDO:0020022 True cerebellar-facial-dental syndrome central nervous system malformation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014530 MONDO:0018189 True autosomal recessive spinocerebellar ataxia 18 autosomal recessive cerebellar ataxia - pyramidal signs - nystagmus - oculomotor apraxia syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014531 MONDO:0005144 True amyotrophic lateral sclerosis type 22 familial amyotrophic lateral sclerosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0014532 MONDO:0009637 True autosomal dominant mitochondrial myopathy with exercise intolerance inborn mitochondrial myopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0014532 MONDO:0016387 True autosomal dominant mitochondrial myopathy with exercise intolerance mitochondrial oxidative phosphorylation disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014532 MONDO:0020123 True autosomal dominant mitochondrial myopathy with exercise intolerance metabolic myopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014534 MONDO:0015204 True lissencephaly 6 with microcephaly microlissencephaly UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0014536 MONDO:0100241 True thrombocytopenia 5 inherited thrombocytopenia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0014537 MONDO:0019005 True nephronophthisis 19 nephronophthisis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0014538 MONDO:0007614 True fibrosis of extraocular muscles, congenital, 5 congenital fibrosis of extraocular muscles UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0014537 MONDO:0019005 True nephronophthisis 19 nephronophthisis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0014538 MONDO:0007614 True fibrosis of extraocular muscles, congenital, 5 congenital fibrosis of extraocular muscles UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS MONDO:0014539 MONDO:0005363 True focal segmental glomerulosclerosis 9 inherited focal segmental glomerulosclerosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0014541 MONDO:0002254 True motor developmental delay due to 14q32.2 paternally expressed gene defect syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0014542 MONDO:0018940 True congenital myasthenic syndrome 15 congenital myasthenic syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0014541 MONDO:0002254 True motor developmental delay due to 14q32.2 paternally expressed gene defect syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0014542 MONDO:0018940 True congenital myasthenic syndrome 15 congenital myasthenic syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS MONDO:0014543 MONDO:0000182 True congenital myasthenic syndrome 14 congenital myasthenic syndrome with tubular aggregates UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0014545 MONDO:0018117 True progressive myoclonic epilepsy type 8 disorder of phospholipids, sphingolipids and fatty acids biosynthesis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014545 MONDO:0020074 True progressive myoclonic epilepsy type 8 progressive myoclonus epilepsy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0014546 MONDO:0016199 True myopathy due to calsequestrin and SERCA1 protein overload qualitative or quantitative defects of protein SERCA1 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014547 MONDO:0000732 True combined oxidative phosphorylation defect type 24 combined oxidative phosphorylation deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0014545 MONDO:0020074 True progressive myoclonic epilepsy type 8 progressive myoclonus epilepsy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0014547 MONDO:0000732 True combined oxidative phosphorylation defect type 24 combined oxidative phosphorylation deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS MONDO:0014548 MONDO:0019171 True long QT syndrome 14 familial long QT syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0014549 MONDO:0017436 True lethal congenital contracture syndrome 6 lethal congenital contracture syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0014550 MONDO:0019171 True long QT syndrome 15 familial long QT syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0014552 MONDO:0015168 True lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome arthrogryposis multiplex congenita UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0014552 MONDO:0018921 True lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome Meckel syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0014552 MONDO:0020022 True lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome central nervous system malformation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014555 MONDO:0010033 True peeling skin syndrome type A generalized peeling skin syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014556 MONDO:0003847 True congenital contractures of the limbs and face, hypotonia, and developmental delay hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0014557 MONDO:0020047 True ataxia - oculomotor apraxia type 4 autosomal recessive syndromic cerebellar ataxia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014557 MONDO:0020127 True ataxia - oculomotor apraxia type 4 hereditary peripheral neuropathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014557 MONDO:0044807 True ataxia - oculomotor apraxia type 4 inherited dystonia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING -MONDO:0014558 MONDO:0015159 True autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014561 MONDO:0017359 True 3-methylglutaconic aciduria, type VIIB 3-methylglutaconic aciduria UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0014562 MONDO:0018151 True neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome coenzyme Q10 deficiency UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0014564 MONDO:0018841 True congenital bile acid synthesis defect 5 congenital bile acid synthesis defect UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0014566 MONDO:0018993 True Charcot-Marie-Tooth disease axonal type 2U Charcot-Marie-Tooth disease type 2 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0014567 MONDO:0015150 True glutamate pyruvate transaminase 2 deficiency complex hereditary spastic paraplegia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014568 MONDO:0015149 True hereditary spastic paraplegia 73 pure hereditary spastic paraplegia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014561 MONDO:0017359 True 3-methylglutaconic aciduria, type VIIB 3-methylglutaconic aciduria UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0014562 MONDO:0018151 True neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome coenzyme Q10 deficiency UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0014564 MONDO:0018841 True congenital bile acid synthesis defect 5 congenital bile acid synthesis defect UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS MONDO:0014569 MONDO:0017436 True lethal congenital contracture syndrome 7 lethal congenital contracture syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0014570 MONDO:0017436 True lethal congenital contracture syndrome 8 lethal congenital contracture syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0014571 MONDO:0043878 True optic atrophy 9 hereditary optic atrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0014572 MONDO:0015244 True Lichtenstein-Knorr syndrome autosomal recessive cerebellar ataxia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0014572 MONDO:0015244 True Lichtenstein-Knorr syndrome autosomal recessive cerebellar ataxia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS MONDO:0014573 MONDO:0016085 True Cole-Carpenter syndrome 2 Cole-Carpenter syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0014575 MONDO:0008429 True Singleton-Merten syndrome 2 Singleton-Merten dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0014576 MONDO:0018424 True lipoyl transferase 1 deficiency inherited lipoic acid biosynthesis defect UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014577 MONDO:0018770 True short-rib thoracic dysplasia 13 with or without polydactyly Jeune syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0014577 MONDO:0018770 True short-rib thoracic dysplasia 13 with or without polydactyly Jeune syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS MONDO:0014579 MONDO:0017842 True Senior-Loken syndrome 8 Senior-Loken syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0014580 MONDO:0015802 True intellectual disability, autosomal dominant 33 autosomal dominant non-syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0014589 MONDO:0018911 True maturity-onset diabetes of the young type 13 maturity-onset diabetes of the young UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED -MONDO:0014590 MONDO:0018940 True congenital myasthenic syndrome 18 congenital myasthenic syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0014590 MONDO:0018940 True congenital myasthenic syndrome 18 congenital myasthenic syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS MONDO:0014592 MONDO:0000181 True microcephaly and chorioretinopathy 3 microcephaly and chorioretinopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0014594 MONDO:0019587 True autosomal dominant nonsyndromic hearing loss 67 autosomal dominant nonsyndromic hearing loss UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0014595 MONDO:0100062 True developmental and epileptic encephalopathy, 30 developmental and epileptic encephalopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0014596 MONDO:0018838 True lissencephaly 7 with cerebellar hypoplasia lissencephaly spectrum disorders UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0014597 MONDO:0003778 True immunodeficiency 39 inborn error of immunity UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0014599 MONDO:0015802 True intellectual disability, autosomal dominant 34 autosomal dominant non-syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0014600 MONDO:0015780 True dyskeratosis congenita, autosomal recessive 6 dyskeratosis congenita UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0014601 MONDO:0015159 True autosomal recessive spinocerebellar ataxia 20 multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014601 MONDO:0015244 True autosomal recessive spinocerebellar ataxia 20 autosomal recessive cerebellar ataxia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0014601 MONDO:0020022 True autosomal recessive spinocerebellar ataxia 20 central nervous system malformation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014602 MONDO:0015159 True intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014603 MONDO:0019587 True autosomal dominant nonsyndromic hearing loss 40 autosomal dominant nonsyndromic hearing loss UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0014604 MONDO:0008199 True Parkinson disease 21 late-onset Parkinson disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED -MONDO:0014605 MONDO:0000426 True microcephaly-corpus callosum hypoplasia-intellectual disability-facial dysmorphism syndrome autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0014605 MONDO:0015159 True microcephaly-corpus callosum hypoplasia-intellectual disability-facial dysmorphism syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014606 MONDO:0015159 True intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014594 MONDO:0019587 True autosomal dominant nonsyndromic hearing loss 67 autosomal dominant nonsyndromic hearing loss UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0014595 MONDO:0100062 True developmental and epileptic encephalopathy, 30 developmental and epileptic encephalopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0014596 MONDO:0018838 True lissencephaly 7 with cerebellar hypoplasia lissencephaly spectrum disorders UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0014600 MONDO:0015780 True dyskeratosis congenita, autosomal recessive 6 dyskeratosis congenita UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0014601 MONDO:0015244 True autosomal recessive spinocerebellar ataxia 20 autosomal recessive cerebellar ataxia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0014602 MONDO:0100172 True intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome intellectual disability, autosomal dominant UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0014603 MONDO:0019587 True autosomal dominant nonsyndromic hearing loss 40 autosomal dominant nonsyndromic hearing loss UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS MONDO:0014606 MONDO:0100172 True intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome intellectual disability, autosomal dominant UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0014608 MONDO:0002254 True mandibulofacial dysostosis with alopecia syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0014608 MONDO:0015483 True mandibulofacial dysostosis with alopecia mandibulofacial dysostosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014608 MONDO:0018234 True mandibulofacial dysostosis with alopecia dysostosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0014608 MONDO:0018751 True mandibulofacial dysostosis with alopecia hereditary otorhinolaryngologic disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014609 MONDO:0015159 True cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014611 MONDO:0017338 True multiple mitochondrial dysfunctions syndrome 4 fatal multiple mitochondrial dysfunctions syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0014611 MONDO:0019046 True multiple mitochondrial dysfunctions syndrome 4 leukodystrophy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS +MONDO:0014611 MONDO:0017338 True multiple mitochondrial dysfunctions syndrome 4 fatal multiple mitochondrial dysfunctions syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS MONDO:0014612 MONDO:0000148 True pulmonary fibrosis and/or bone marrow failure, Telomere-related, 4 pulmonary fibrosis and/or bone marrow failure, telomere-related UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0014613 MONDO:0000148 True pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 pulmonary fibrosis and/or bone marrow failure, telomere-related UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0014614 MONDO:0006025 True congenital stationary night blindness 1G autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0014614 MONDO:0016293 True congenital stationary night blindness 1G congenital stationary night blindness UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0014615 MONDO:0002470 True trichothiodystrophy 2, photosensitive photosensitive trichothiodystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0014614 MONDO:0016293 True congenital stationary night blindness 1G congenital stationary night blindness UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS MONDO:0014617 MONDO:0100172 True intellectual disability, autosomal dominant 38 intellectual disability, autosomal dominant UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0014618 MONDO:0019200 True retinitis pigmentosa 71 retinitis pigmentosa UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0014619 MONDO:0002470 True trichothiodystrophy 3, photosensitive photosensitive trichothiodystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0014620 MONDO:0000903 True myoclonic dystonia 26 myoclonus-dystonia syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0014621 MONDO:0015263 True Brugada syndrome 9 Brugada syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0014622 MONDO:0017672 True isolated focal non-epidermolytic palmoplantar keratoderma focal palmoplantar keratoderma UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014623 MONDO:0016660 True microcephaly 14, primary, autosomal recessive autosomal recessive primary microcephaly UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0014624 MONDO:0004753 True Brown syndrome mechanical strabismus UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0014626 MONDO:0019793 True spinocerebellar ataxia type 41 autosomal dominant cerebellar ataxia type III UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014627 MONDO:0000479 True dystonia 27 segmental dystonia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0014627 MONDO:0015990 True dystonia 27 focal, segmental or multifocal dystonia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014618 MONDO:0019200 True retinitis pigmentosa 71 retinitis pigmentosa UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0014621 MONDO:0015263 True Brugada syndrome 9 Brugada syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0014623 MONDO:0016660 True microcephaly 14, primary, autosomal recessive autosomal recessive primary microcephaly UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS MONDO:0014628 MONDO:0008947 True basal ganglia calcification, idiopathic, 6 bilateral striopallidodentate calcinosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0014629 MONDO:0003847 True autoimmune interstitial lung disease-arthritis syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0014630 MONDO:0016362 True familial adenomatous polyposis 3 attenuated familial adenomatous polyposis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014630 MONDO:0021055 True familial adenomatous polyposis 3 classic familial adenomatous polyposis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0014632 MONDO:0019046 True hypomyelinating leukodystrophy 10 leukodystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0014634 MONDO:0010765 True 46,XY sex reversal 10 46,XY complete gonadal dysgenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0014630 MONDO:0021055 True familial adenomatous polyposis 3 classic familial adenomatous polyposis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0014632 MONDO:0019046 True hypomyelinating leukodystrophy 10 leukodystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0014634 MONDO:0010765 True 46,XY sex reversal 10 46,XY complete gonadal dysgenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS MONDO:0014635 MONDO:0000170 True microphthalmia, isolated, with coloboma 10 microphthalmia, isolated, with coloboma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0014636 MONDO:0000732 True combined oxidative phosphorylation defect type 25 combined oxidative phosphorylation deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0014636 MONDO:0000732 True combined oxidative phosphorylation defect type 25 combined oxidative phosphorylation deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS MONDO:0014637 MONDO:0021094 True DOCK2 deficiency immunodeficiency disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0014638 MONDO:0019391 True Fanconi anemia complementation group T Fanconi anemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0014639 MONDO:0005115 True familial temporal lobe epilepsy 7 temporal lobe epilepsy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0014638 MONDO:0019391 True Fanconi anemia complementation group T Fanconi anemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0014639 MONDO:0005115 True familial temporal lobe epilepsy 7 temporal lobe epilepsy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS MONDO:0014640 MONDO:0005144 True frontotemporal dementia and/or amyotrophic lateral sclerosis 3 familial amyotrophic lateral sclerosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0014640 MONDO:0017161 True frontotemporal dementia and/or amyotrophic lateral sclerosis 3 frontotemporal dementia with motor neuron disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0014641 MONDO:0005144 True frontotemporal dementia and/or amyotrophic lateral sclerosis 4 familial amyotrophic lateral sclerosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0014641 MONDO:0017161 True frontotemporal dementia and/or amyotrophic lateral sclerosis 4 frontotemporal dementia with motor neuron disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0014642 MONDO:0015279 True candidiasis, familial, 9 chronic mucocutaneous candidiasis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0014643 MONDO:0015159 True congenital cataract-microcephaly-nevus flammeus simplex-severe intellectual disability syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014644 MONDO:0015150 True hereditary spastic paraplegia 74 complex hereditary spastic paraplegia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014645 MONDO:0003778 True BENTA disease inborn error of immunity UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014646 MONDO:0000200 True Zimmermann-Laband syndrome 2 Zimmermann-Laband syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0014647 MONDO:0017749 True developmental and epileptic encephalopathy, 50 disorder of multiple glycosylation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014647 MONDO:0019238 True developmental and epileptic encephalopathy, 50 inborn disorder of pyrimidine metabolism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0014647 MONDO:0100062 True developmental and epileptic encephalopathy, 50 developmental and epileptic encephalopathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0014649 MONDO:0019502 True intellectual disability, autosomal recessive 50 autosomal recessive non-syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0014650 MONDO:0005115 True familial temporal lobe epilepsy 8 temporal lobe epilepsy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0014651 MONDO:0018237 True acrofacial dysostosis Cincinnati type acrofacial dysostosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0014652 MONDO:0019516 True exudative vitreoretinopathy 6 exudative vitreoretinopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0014653 MONDO:0019200 True retinitis pigmentosa 72 retinitis pigmentosa UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0014647 MONDO:0100062 True developmental and epileptic encephalopathy, 50 developmental and epileptic encephalopathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0014649 MONDO:0019502 True intellectual disability, autosomal recessive 50 autosomal recessive non-syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0014650 MONDO:0005115 True familial temporal lobe epilepsy 8 temporal lobe epilepsy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0014652 MONDO:0019516 True exudative vitreoretinopathy 6 exudative vitreoretinopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0014653 MONDO:0019200 True retinitis pigmentosa 72 retinitis pigmentosa UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS MONDO:0014654 MONDO:0000355 True Ullrich congenital muscular dystrophy 2 Ullrich congenital muscular dystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0014656 MONDO:0000090 True progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 2 progressive external ophthalmoplegia with mitochondrial DNA deletions UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0014657 MONDO:0016575 True primary ciliary dyskinesia 32 primary ciliary dyskinesia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0014658 MONDO:0000426 True severe achondroplasia-developmental delay-acanthosis nigricans syndrome autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0014658 MONDO:0019685 True severe achondroplasia-developmental delay-acanthosis nigricans syndrome FGFR3-related chondrodysplasia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014657 MONDO:0016575 True primary ciliary dyskinesia 32 primary ciliary dyskinesia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS MONDO:0014659 MONDO:0000023 True infantile liver failure syndrome 2 infantile liver failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0014660 MONDO:0016660 True microcephaly 15, primary, autosomal recessive autosomal recessive primary microcephaly UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0014660 MONDO:0016660 True microcephaly 15, primary, autosomal recessive autosomal recessive primary microcephaly UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS MONDO:0014661 MONDO:0017610 True epidermolysis bullosa simplex with nail dystrophy epidermolysis bullosa simplex UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0014662 MONDO:0015364 True congenital insensitivity to pain-hypohidrosis syndrome hereditary sensory and autonomic neuropathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0014662 MONDO:0015364 True congenital insensitivity to pain-hypohidrosis syndrome hereditary sensory and autonomic neuropathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS MONDO:0014663 MONDO:0008394 True Silver-Russell syndrome 3 Silver-Russell syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0014664 MONDO:0018772 True Joubert syndrome 23 Joubert syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0014665 MONDO:0018993 True Charcot-Marie-Tooth disease axonal type 2V Charcot-Marie-Tooth disease type 2 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0014666 MONDO:0019046 True hypomyelinating leukodystrophy 11 leukodystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0014667 MONDO:0015487 True cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 3 fatal infantile encephalocardiomyopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0014668 MONDO:0015487 True cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 4 fatal infantile encephalocardiomyopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0014664 MONDO:0018772 True Joubert syndrome 23 Joubert syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0014666 MONDO:0019046 True hypomyelinating leukodystrophy 11 leukodystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS MONDO:0014669 MONDO:0015993 True cone-rod dystrophy 21 cone-rod dystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0014670 MONDO:0017436 True lethal congenital contracture syndrome 9 lethal congenital contracture syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0014674 MONDO:0018911 True maturity-onset diabetes of the young type 14 maturity-onset diabetes of the young UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED -MONDO:0014675 MONDO:0019588 True autosomal recessive nonsyndromic hearing loss 104 hearing loss, autosomal recessive UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0014676 MONDO:0016830 True Emery-Dreifuss muscular dystrophy 3, autosomal recessive Emery-Dreifuss muscular dystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0014677 MONDO:0018852 True achromatopsia 7 achromatopsia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0014675 MONDO:0019588 True autosomal recessive nonsyndromic hearing loss 104 hearing loss, autosomal recessive UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0014676 MONDO:0016830 True Emery-Dreifuss muscular dystrophy 3, autosomal recessive Emery-Dreifuss muscular dystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS MONDO:0014678 MONDO:0100172 True intellectual disability, autosomal dominant 39 intellectual disability, autosomal dominant UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0014683 MONDO:0000171 True muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9 muscular dystrophy-dystroglycanopathy, type A UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0014684 MONDO:0000732 True combined oxidative phosphorylation defect type 26 combined oxidative phosphorylation deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0014685 MONDO:0020074 True progressive myoclonic epilepsy type 9 progressive myoclonus epilepsy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0014687 MONDO:0019200 True retinitis pigmentosa 73 retinitis pigmentosa UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0014688 MONDO:0018770 True short-rib thoracic dysplasia 14 with polydactyly Jeune syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0014689 MONDO:0001029 True Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome Klippel-Feil syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0014689 MONDO:0019952 True Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome congenital myopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS -MONDO:0014690 MONDO:0000426 True dyskeratosis congenita, autosomal dominant 6 autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0014690 MONDO:0015780 True dyskeratosis congenita, autosomal dominant 6 dyskeratosis congenita UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0014691 MONDO:0018997 True Noonan syndrome 9 Noonan syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0014692 MONDO:0019200 True retinitis pigmentosa 74 retinitis pigmentosa UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0014693 MONDO:0018997 True Noonan syndrome 10 Noonan syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0014696 MONDO:0008926 True cerebrooculofacioskeletal syndrome 3 COFS syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0014697 MONDO:0015517 True immunodeficiency, common variable, 12 common variable immunodeficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0014700 MONDO:0018681 True Au-Kline syndrome neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-hip dysplasia syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014701 MONDO:0016761 True spondyloepiphyseal dysplasia, Stanescu type spondyloepiphyseal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0014701 MONDO:0022800 True spondyloepiphyseal dysplasia, Stanescu type type 2 collagenopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014702 MONDO:0015150 True autosomal recessive complex spastic paraplegia type 9B complex hereditary spastic paraplegia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014684 MONDO:0000732 True combined oxidative phosphorylation defect type 26 combined oxidative phosphorylation deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0014685 MONDO:0020074 True progressive myoclonic epilepsy type 9 progressive myoclonus epilepsy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0014687 MONDO:0019200 True retinitis pigmentosa 73 retinitis pigmentosa UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0014688 MONDO:0018770 True short-rib thoracic dysplasia 14 with polydactyly Jeune syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0014689 MONDO:0001029 True Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome Klippel-Feil syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0014690 MONDO:0015780 True dyskeratosis congenita, autosomal dominant 6 dyskeratosis congenita UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0014691 MONDO:0018997 True Noonan syndrome 9 Noonan syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0014692 MONDO:0019200 True retinitis pigmentosa 74 retinitis pigmentosa UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0014693 MONDO:0018997 True Noonan syndrome 10 Noonan syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0014696 MONDO:0008926 True cerebrooculofacioskeletal syndrome 3 COFS syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0014697 MONDO:0015517 True immunodeficiency, common variable, 12 common variable immunodeficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS MONDO:0014703 MONDO:0007034 True Adams-Oliver syndrome 6 Adams-Oliver syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0014704 MONDO:0018230 True skeletal overgrowth-craniofacial dysmorphism-hyperelastic skin-white matter lesions syndrome skeletal dysplasia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014706 MONDO:0019571 True cutis laxa, autosomal dominant 3 autosomal dominant cutis laxa UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0014707 MONDO:0016964 True 14q32 duplication syndrome partial duplication of the long arm of chromosome 14 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014710 MONDO:0019146 True autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency inherited susceptibility to mycobacterial diseases UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014711 MONDO:0018993 True autosomal dominant Charcot-Marie-Tooth disease type 2W Charcot-Marie-Tooth disease type 2 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0014712 MONDO:0017842 True Senior-Loken syndrome 9 Senior-Loken syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0014715 MONDO:0003778 True primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection inborn error of immunity UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0014716 MONDO:0015159 True macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014717 MONDO:0020074 True early-onset Lafora body disease progressive myoclonus epilepsy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0014719 MONDO:0019236 True developmental and epileptic encephalopathy, 35 inborn disorder of purine metabolism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014719 MONDO:0024237 True developmental and epileptic encephalopathy, 35 inherited neurodegenerative disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014719 MONDO:0100062 True developmental and epileptic encephalopathy, 35 developmental and epileptic encephalopathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0014720 MONDO:0020250 True autosomal dominant optic atrophy plus syndrome autosomal dominant optic atrophy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014723 MONDO:0016967 True PMP22-RAI1 contiguous gene duplication syndrome partial duplication of the long arm of chromosome 17 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014724 MONDO:0018772 True Joubert syndrome 24 Joubert syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0014725 MONDO:0018162 True spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome neurometabolic disorder due to serine deficiency UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014726 MONDO:0018993 True Charcot-Marie-Tooth disease axonal type 2X Charcot-Marie-Tooth disease type 2 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0014717 MONDO:0020074 True early-onset Lafora body disease progressive myoclonus epilepsy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0014719 MONDO:0100062 True developmental and epileptic encephalopathy, 35 developmental and epileptic encephalopathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0014724 MONDO:0018772 True Joubert syndrome 24 Joubert syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS MONDO:0014727 MONDO:0021094 True immunodeficiency 45 immunodeficiency disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0014728 MONDO:0000732 True combined oxidative phosphorylation defect type 27 combined oxidative phosphorylation deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0014729 MONDO:0015150 True hereditary spastic paraplegia 75 complex hereditary spastic paraplegia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014730 MONDO:0016660 True microcephaly 16, primary, autosomal recessive autosomal recessive primary microcephaly UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0014731 MONDO:0015286 True seizures-scoliosis-macrocephaly syndrome congenital disorder of glycosylation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014732 MONDO:0019046 True hypomyelinating leukodystrophy 12 leukodystrophy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0014733 MONDO:0016387 True Charcot-Marie-Tooth disease type 4K mitochondrial oxidative phosphorylation disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014733 MONDO:0018995 True Charcot-Marie-Tooth disease type 4K Charcot-Marie-Tooth disease type 4 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0014735 MONDO:0018993 True Charcot-Marie-Tooth disease type 2Y Charcot-Marie-Tooth disease type 2 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0014736 MONDO:0018993 True Charcot-Marie-Tooth disease axonal type 2Z Charcot-Marie-Tooth disease type 2 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0014737 MONDO:0017910 True dehydrated hereditary stomatocytosis 2 dehydrated hereditary stomatocytosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0014738 MONDO:0019587 True autosomal dominant nonsyndromic hearing loss 69 autosomal dominant nonsyndromic hearing loss UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0014739 MONDO:0019588 True autosomal recessive nonsyndromic hearing loss 97 hearing loss, autosomal recessive UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0014740 MONDO:0019587 True autosomal dominant nonsyndromic hearing loss 68 autosomal dominant nonsyndromic hearing loss UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0014741 MONDO:0018760 True DeSanto-Shinawi syndrome due to WAC point mutation DeSanto-Shinawi syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014742 MONDO:0008199 True Parkinson disease 22, autosomal dominant late-onset Parkinson disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED -MONDO:0014744 MONDO:0020047 True acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome autosomal recessive syndromic cerebellar ataxia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014746 MONDO:0005501 True SLC39A8-CDG congenital disorder of glycosylation type II UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0014746 MONDO:0015159 True SLC39A8-CDG multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014746 MONDO:0017740 True SLC39A8-CDG disorder of protein N-glycosylation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014746 MONDO:0020022 True SLC39A8-CDG central nervous system malformation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014748 MONDO:0015159 True progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014728 MONDO:0000732 True combined oxidative phosphorylation defect type 27 combined oxidative phosphorylation deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0014730 MONDO:0016660 True microcephaly 16, primary, autosomal recessive autosomal recessive primary microcephaly UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0014732 MONDO:0019046 True hypomyelinating leukodystrophy 12 leukodystrophy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0014738 MONDO:0019587 True autosomal dominant nonsyndromic hearing loss 69 autosomal dominant nonsyndromic hearing loss UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0014739 MONDO:0019588 True autosomal recessive nonsyndromic hearing loss 97 hearing loss, autosomal recessive UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0014740 MONDO:0019587 True autosomal dominant nonsyndromic hearing loss 68 autosomal dominant nonsyndromic hearing loss UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0014746 MONDO:0005501 True SLC39A8-CDG congenital disorder of glycosylation type II UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS MONDO:0014749 MONDO:0005486 True tooth agenesis, selective, 7 tooth agenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0014750 MONDO:0016575 True primary ciliary dyskinesia 33 primary ciliary dyskinesia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0014751 MONDO:0015159 True palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014754 MONDO:0018151 True primary coenzyme Q10 deficiency 8 coenzyme Q10 deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0014755 MONDO:0007990 True skin creases, congenital symmetric circumferential, 2 multiple benign circumferential skin creases on limbs UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0014756 MONDO:0003233 True tremor, hereditary essential, 5 essential tremor UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0014757 MONDO:0015159 True macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014757 MONDO:0018795 True macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome syndromic constitutional thrombocytopenia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014750 MONDO:0016575 True primary ciliary dyskinesia 33 primary ciliary dyskinesia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0014754 MONDO:0018151 True primary coenzyme Q10 deficiency 8 coenzyme Q10 deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0014756 MONDO:0003233 True tremor, hereditary essential, 5 essential tremor UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS MONDO:0014758 MONDO:0011555 True radioulnar synostosis with amegakaryocytic thrombocytopenia 2 radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0014759 MONDO:0019502 True intellectual disability, autosomal recessive 51 autosomal recessive non-syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0014759 MONDO:0019502 True intellectual disability, autosomal recessive 51 autosomal recessive non-syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS MONDO:0014760 MONDO:0021094 True TFRC-related combined immunodeficiency immunodeficiency disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0014762 MONDO:0018677 True heterotaxy, visceral, 7, autosomal visceral heterotaxy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0014764 MONDO:0015150 True spastic paraplegia-severe developmental delay-epilepsy syndrome complex hereditary spastic paraplegia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014764 MONDO:0015159 True spastic paraplegia-severe developmental delay-epilepsy syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014764 MONDO:0015653 True spastic paraplegia-severe developmental delay-epilepsy syndrome monogenic epilepsy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014765 MONDO:0003847 True wooly hair, autosomal recessive 3 hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0014765 MONDO:0008686 True wooly hair, autosomal recessive 3 isolated familial wooly hair disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0014767 MONDO:0019342 True Seckel syndrome 9 Seckel syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0014768 MONDO:0007432 True cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2 cerebral arteriopathy with subcortical infarcts and leukoencephalopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0014770 MONDO:0018772 True Joubert syndrome 25 Joubert syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0014771 MONDO:0018772 True Joubert syndrome 26 Joubert syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0014773 MONDO:0015159 True cardiac anomalies - developmental delay - facial dysmorphism syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014775 MONDO:0000732 True combined oxidative phosphorylation deficiency 28 combined oxidative phosphorylation deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0014775 MONDO:0016801 True combined oxidative phosphorylation deficiency 28 mitochondrial substrate carrier disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014776 MONDO:0019793 True spinocerebellar ataxia type 42 autosomal dominant cerebellar ataxia type III UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014767 MONDO:0019342 True Seckel syndrome 9 Seckel syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0014768 MONDO:0007432 True cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2 cerebral arteriopathy with subcortical infarcts and leukoencephalopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0014770 MONDO:0018772 True Joubert syndrome 25 Joubert syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0014771 MONDO:0018772 True Joubert syndrome 26 Joubert syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0014775 MONDO:0000732 True combined oxidative phosphorylation deficiency 28 combined oxidative phosphorylation deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS MONDO:0014777 MONDO:0014176 True hypotonia, infantile, with psychomotor retardation and characteristic facies 2 hypotonia, infantile, with psychomotor retardation and characteristic facies UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0014779 MONDO:0003321 True Wilms tumor 6 hereditary Wilms tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0014780 MONDO:0016596 True hyperphosphatasia with intellectual disability syndrome 6 hyperphosphatasia-intellectual disability syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0014781 MONDO:0000732 True combined oxidative phosphorylation deficiency 29 combined oxidative phosphorylation deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0014781 MONDO:0006025 True combined oxidative phosphorylation deficiency 29 autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0014781 MONDO:0024237 True combined oxidative phosphorylation deficiency 29 inherited neurodegenerative disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014782 MONDO:0015152 True autosomal recessive limb-girdle muscular dystrophy type 2X autosomal recessive limb-girdle muscular dystrophy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0014784 MONDO:0019952 True severe hypotonia-psychomotor developmental delay-strabismus-cardiac septal defect syndrome congenital myopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING -MONDO:0014785 MONDO:0800450 True microcephaly, short stature, and impaired glucose metabolism 2 microcephaly, short stature, and impaired glucose metabolism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0014787 MONDO:0015159 True severe intellectual disability-corpus callosum agenesis-facial dysmorphism-cerebellar ataxia syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014787 MONDO:0020022 True severe intellectual disability-corpus callosum agenesis-facial dysmorphism-cerebellar ataxia syndrome central nervous system malformation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014788 MONDO:0015152 True autosomal recessive limb-girdle muscular dystrophy type 2W autosomal recessive limb-girdle muscular dystrophy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0014789 MONDO:0005501 True CCDC115-CDG congenital disorder of glycosylation type II UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0014789 MONDO:0017749 True CCDC115-CDG disorder of multiple glycosylation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014790 MONDO:0005501 True TMEM199-CDG congenital disorder of glycosylation type II UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0014790 MONDO:0017749 True TMEM199-CDG disorder of multiple glycosylation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014792 MONDO:0005382 True Paget disease of bone 6 bone Paget disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0014793 MONDO:0019240 True microcephaly-congenital cataract-psoriasiform dermatitis syndrome sterol biosynthesis disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014794 MONDO:0016817 True Meier-Gorlin syndrome 6 Meier-Gorlin syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0014796 MONDO:0017279 True autosomal recessive early-onset Parkinson disease 23 young-onset Parkinson disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0014781 MONDO:0000732 True combined oxidative phosphorylation deficiency 29 combined oxidative phosphorylation deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0014782 MONDO:0015152 True autosomal recessive limb-girdle muscular dystrophy type 2X autosomal recessive limb-girdle muscular dystrophy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0014788 MONDO:0015152 True autosomal recessive limb-girdle muscular dystrophy type 2W autosomal recessive limb-girdle muscular dystrophy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0014789 MONDO:0005501 True CCDC115-CDG congenital disorder of glycosylation type II UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0014790 MONDO:0005501 True TMEM199-CDG congenital disorder of glycosylation type II UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0014792 MONDO:0005382 True Paget disease of bone 6 bone Paget disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0014794 MONDO:0016817 True Meier-Gorlin syndrome 6 Meier-Gorlin syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS MONDO:0014797 MONDO:0019313 True lymphatic malformation 6 lymphatic malformation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0014798 MONDO:0021004 True brachydactyly type A1D brachydactyly UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0014800 MONDO:0016106 True progressive scapulohumeroperoneal distal myopathy progressive muscular dystrophy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014801 MONDO:0015161 True even-plus syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014802 MONDO:0016063 True Cowden syndrome 7 Cowden disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0014803 MONDO:0017845 True spasticity-ataxia-gait anomalies syndrome spastic ataxia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING -MONDO:0014803 MONDO:0018424 True spasticity-ataxia-gait anomalies syndrome inherited lipoic acid biosynthesis defect UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014804 MONDO:0016801 True sideroblastic anemia 3 mitochondrial substrate carrier disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014802 MONDO:0016063 True Cowden syndrome 7 Cowden disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS MONDO:0014806 MONDO:0000209 True spinal muscular atrophy with congenital bone fractures 1 prenatal-onset spinal muscular atrophy with congenital bone fractures UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0014807 MONDO:0000209 True spinal muscular atrophy with congenital bone fractures 2 prenatal-onset spinal muscular atrophy with congenital bone fractures UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0014809 MONDO:0015356 True DDX41-related hematologic malignancy predisposition syndrome hereditary neoplastic syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014810 MONDO:0015517 True pancytopenia due to IKZF1 mutations common variable immunodeficiency UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0014813 MONDO:0019046 True hypomyelinating leukodystrophy 13 leukodystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0014814 MONDO:0015609 True advanced sleep phase syndrome 3 advanced sleep phase syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0014815 MONDO:0019502 True intellectual disability, autosomal recessive 52 autosomal recessive non-syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0014816 MONDO:0015161 True split-foot malformation-mesoaxial polydactyly syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014816 MONDO:0018234 True split-foot malformation-mesoaxial polydactyly syndrome dysostosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014816 MONDO:0019054 True split-foot malformation-mesoaxial polydactyly syndrome congenital limb malformation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014820 MONDO:0018158 True mitochondrial DNA depletion syndrome 14 (cardioencephalomyopathic type) mitochondrial DNA depletion syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0014821 MONDO:0018230 True complex lethal osteochondrodysplasia skeletal dysplasia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014822 MONDO:0016913 True 15q14 microdeletion syndrome partial deletion of the long arm of chromosome 15 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014810 MONDO:0015517 True pancytopenia due to IKZF1 mutations common variable immunodeficiency UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0014813 MONDO:0019046 True hypomyelinating leukodystrophy 13 leukodystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0014814 MONDO:0015609 True advanced sleep phase syndrome 3 advanced sleep phase syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0014815 MONDO:0019502 True intellectual disability, autosomal recessive 52 autosomal recessive non-syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0014820 MONDO:0018158 True mitochondrial DNA depletion syndrome 14 (cardioencephalomyopathic type) mitochondrial DNA depletion syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS MONDO:0014823 MONDO:0014176 True hypotonia, infantile, with psychomotor retardation and characteristic facies 3 hypotonia, infantile, with psychomotor retardation and characteristic facies UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0014827 MONDO:0015150 True autosomal recessive spastic paraplegia type 76 complex hereditary spastic paraplegia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014828 MONDO:0000133 True immunodeficiency-centromeric instability-facial anomalies syndrome 3 immunodeficiency-centromeric instability-facial anomalies syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0014829 MONDO:0000133 True immunodeficiency-centromeric instability-facial anomalies syndrome 4 immunodeficiency-centromeric instability-facial anomalies syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0014830 MONDO:0000009 True platelet-type bleeding disorder 20 inherited bleeding disorder, platelet-type UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0014832 MONDO:0017748 True intellectual disability, autosomal recessive 53 inborn disorder of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014828 MONDO:0000133 True immunodeficiency-centromeric instability-facial anomalies syndrome 3 immunodeficiency-centromeric instability-facial anomalies syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0014829 MONDO:0000133 True immunodeficiency-centromeric instability-facial anomalies syndrome 4 immunodeficiency-centromeric instability-facial anomalies syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0014830 MONDO:0000009 True platelet-type bleeding disorder 20 inherited bleeding disorder, platelet-type UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS MONDO:0014835 MONDO:0000211 True striatal degeneration, autosomal dominant 2 striatal degeneration, autosomal dominant UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0014836 MONDO:0018993 True Charcot-Marie-Tooth disease axonal type 2CC Charcot-Marie-Tooth disease type 2 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0014837 MONDO:0018795 True thrombocytopenia 6 syndromic constitutional thrombocytopenia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014837 MONDO:0020076 True thrombocytopenia 6 myeloproliferative neoplasm UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014838 MONDO:0015452 True Coffin-Siris syndrome 5 Coffin-Siris syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0014841 MONDO:0018053 True trichothiodystrophy 6, nonphotosensitive trichothiodystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0014842 MONDO:0015802 True intellectual disability, autosomal dominant 41 autosomal dominant non-syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0014838 MONDO:0015452 True Coffin-Siris syndrome 5 Coffin-Siris syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0014841 MONDO:0018053 True trichothiodystrophy 6, nonphotosensitive trichothiodystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS MONDO:0014843 MONDO:0019852 True premature ovarian failure 11 inherited primary ovarian failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0014844 MONDO:0019852 True premature ovarian failure 12 inherited primary ovarian failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0014845 MONDO:0015244 True spinocerebellar ataxia, autosomal recessive 22 autosomal recessive cerebellar ataxia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0014846 MONDO:0018446 True spinocerebellar ataxia, autosomal recessive 23 autosomal recessive cerebellar ataxia - epilepsy - intellectual disability syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014847 MONDO:0004983 True spermatogenic failure 15 spermatogenic failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0014848 MONDO:0015159 True TELO2-related intellectual disability-neurodevelopmental disorder multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014845 MONDO:0015244 True spinocerebellar ataxia, autosomal recessive 22 autosomal recessive cerebellar ataxia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0014847 MONDO:0004983 True spermatogenic failure 15 spermatogenic failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS MONDO:0014851 MONDO:0000212 True hypercalcemia, infantile, 2 hypercalcemia, infantile UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0014853 MONDO:0019587 True autosomal dominant nonsyndromic hearing loss 70 autosomal dominant nonsyndromic hearing loss UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0014854 MONDO:0019587 True autosomal dominant nonsyndromic hearing loss 66 autosomal dominant nonsyndromic hearing loss UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0014855 MONDO:0015802 True intellectual disability, autosomal dominant 42 autosomal dominant non-syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0014856 MONDO:0000732 True combined oxidative phosphorylation defect type 30 combined oxidative phosphorylation deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0014858 MONDO:0015802 True intellectual disability, autosomal dominant 43 autosomal dominant non-syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0014859 MONDO:0100062 True developmental and epileptic encephalopathy, 37 developmental and epileptic encephalopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0014853 MONDO:0019587 True autosomal dominant nonsyndromic hearing loss 70 autosomal dominant nonsyndromic hearing loss UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0014854 MONDO:0019587 True autosomal dominant nonsyndromic hearing loss 66 autosomal dominant nonsyndromic hearing loss UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0014856 MONDO:0000732 True combined oxidative phosphorylation defect type 30 combined oxidative phosphorylation deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0014859 MONDO:0100062 True developmental and epileptic encephalopathy, 37 developmental and epileptic encephalopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS MONDO:0014860 MONDO:0000447 True polycystic liver disease 2 autosomal dominant polycystic liver disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0014861 MONDO:0000213 True autoimmune disease, multisystem, infantile-onset, 2 autoimmune disease, multisystem, infantile-onset UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0014862 MONDO:0016215 True cerebral palsy, spastic quadriplegic, 3 spastic quadriplegic cerebral palsy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0014864 MONDO:0000214 True hypermanganesemia with dystonia 2 hypermanganesemia with dystonia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0014864 MONDO:0017766 True hypermanganesemia with dystonia 2 disorder of manganese transport UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014865 MONDO:0028226 True autosomal recessive severe congenital neutropenia due to CSF3R deficiency autosomal recessive severe congenital neutropenia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014866 MONDO:0018993 True Charcot-Marie-Tooth disease axonal type 2T Charcot-Marie-Tooth disease type 2 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0014867 MONDO:0020380 True spinocerebellar ataxia 43 autosomal dominant cerebellar ataxia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0014868 MONDO:0100062 True developmental and epileptic encephalopathy, 38 developmental and epileptic encephalopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0014869 MONDO:0016387 True hydrops-lactic acidosis-sideroblastic anemia-multisystemic failure syndrome mitochondrial oxidative phosphorylation disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014870 MONDO:0015929 True NEK9-related lethal skeletal dysplasia thoracic malformation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014862 MONDO:0016215 True cerebral palsy, spastic quadriplegic, 3 spastic quadriplegic cerebral palsy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0014864 MONDO:0000214 True hypermanganesemia with dystonia 2 hypermanganesemia with dystonia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0014867 MONDO:0020380 True spinocerebellar ataxia 43 autosomal dominant cerebellar ataxia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0014868 MONDO:0100062 True developmental and epileptic encephalopathy, 38 developmental and epileptic encephalopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS MONDO:0014870 MONDO:0017436 True NEK9-related lethal skeletal dysplasia lethal congenital contracture syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0014870 MONDO:0019691 True NEK9-related lethal skeletal dysplasia short rib dysplasia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014871 MONDO:0019200 True retinitis pigmentosa 75 retinitis pigmentosa UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0014872 MONDO:0016293 True congenital stationary night blindness 1H congenital stationary night blindness UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0014874 MONDO:0016759 True pontocerebellar hypoplasia, type 2F pontocerebellar hypoplasia type 2 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0014875 MONDO:0016525 True hyperaldosteronism, familial, type IV familial hyperaldosteronism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0014876 MONDO:0019502 True intellectual disability, autosomal recessive 54 autosomal recessive non-syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0014877 MONDO:0018949 True myopathy, distal, 5 distal myopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0014871 MONDO:0019200 True retinitis pigmentosa 75 retinitis pigmentosa UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0014872 MONDO:0016293 True congenital stationary night blindness 1H congenital stationary night blindness UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0014875 MONDO:0016525 True hyperaldosteronism, familial, type IV familial hyperaldosteronism UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0014876 MONDO:0019502 True intellectual disability, autosomal recessive 54 autosomal recessive non-syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0014877 MONDO:0018949 True myopathy, distal, 5 distal myopathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0014878 MONDO:0011827 True patent ductus arteriosus 2 patent ductus arteriosus UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0014880 MONDO:0007473 True Duane retraction syndrome 3 with or without deafness Duane retraction syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0014881 MONDO:0015159 True transketolase deficiency multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014881 MONDO:0019231 True transketolase deficiency inborn disorder of pentose phosphate metabolism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014882 MONDO:0016387 True hereditary spastic paraplegia 77 mitochondrial oxidative phosphorylation disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014882 MONDO:0019064 True hereditary spastic paraplegia 77 hereditary spastic paraplegia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0014883 MONDO:0024573 True hypertrophic cardiomyopathy 26 familial hypertrophic cardiomyopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0014884 MONDO:0015762 True cholestasis, progressive familial intrahepatic, 5 progressive familial intrahepatic cholestasis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0014882 MONDO:0019064 True hereditary spastic paraplegia 77 hereditary spastic paraplegia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0014883 MONDO:0024573 True hypertrophic cardiomyopathy 26 familial hypertrophic cardiomyopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0014884 MONDO:0015762 True cholestasis, progressive familial intrahepatic, 5 progressive familial intrahepatic cholestasis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS MONDO:0014885 MONDO:0019312 True Hermansky-Pudlak syndrome 10 Hermansky-Pudlak syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0014886 MONDO:0015159 True severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014886 MONDO:0019289 True severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome hyperpigmentation of the skin UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014887 MONDO:0000159 True bone marrow failure syndrome 3 bone marrow failure syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0014888 MONDO:0002254 True MIRAGE syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014889 MONDO:0003122 True striatonigral degeneration, childhood-onset striatonigral degeneration UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0014889 MONDO:0044807 True striatonigral degeneration, childhood-onset inherited dystonia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING -MONDO:0014890 MONDO:0015526 True PERCHING syndrome cold-induced sweating syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0014890 MONDO:0015526 True PERCHING syndrome cold-induced sweating syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS MONDO:0014891 MONDO:0000608 True hyperuricemic nephropathy, familial juvenile type 4 familial juvenile hyperuricemic nephropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0014892 MONDO:0015159 True micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014892 MONDO:0100172 True micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome intellectual disability, autosomal dominant UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0014894 MONDO:0016817 True Meier-Gorlin syndrome 7 Meier-Gorlin syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0014895 MONDO:0100062 True developmental and epileptic encephalopathy, 40 developmental and epileptic encephalopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0014896 MONDO:0019950 True congenital muscular dystrophy-respiratory failure-skin abnormalities-joint hyperlaxity syndrome congenital muscular dystrophy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014894 MONDO:0016817 True Meier-Gorlin syndrome 7 Meier-Gorlin syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0014895 MONDO:0100062 True developmental and epileptic encephalopathy, 40 developmental and epileptic encephalopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS MONDO:0014898 MONDO:0000090 True progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 3 progressive external ophthalmoplegia with mitochondrial DNA deletions UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0014899 MONDO:0000090 True progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4 progressive external ophthalmoplegia with mitochondrial DNA deletions UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0014900 MONDO:0015152 True autosomal recessive limb-girdle muscular dystrophy type 2Y autosomal recessive limb-girdle muscular dystrophy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0014900 MONDO:0015152 True autosomal recessive limb-girdle muscular dystrophy type 2Y autosomal recessive limb-girdle muscular dystrophy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS MONDO:0014901 MONDO:0005486 True tooth agenesis, selective, 8 tooth agenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0014903 MONDO:0017615 True seizures, benign familial infantile, 5 benign familial infantile epilepsy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0014904 MONDO:0005500 True congenital disorder of glycosylation, type IAA congenital disorder of glycosylation type I UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0014905 MONDO:0054865 True encephalopathy due to defective mitochondrial and peroxisomal fission 2 encephalopathy due to mitochondrial and peroxisomal fission defect UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0014906 MONDO:0015626 True Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2a2b; Charcot-Marie-Tooth disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0014903 MONDO:0017615 True seizures, benign familial infantile, 5 benign familial infantile epilepsy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0014904 MONDO:0005500 True congenital disorder of glycosylation, type IAA congenital disorder of glycosylation type I UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0014905 MONDO:0054865 True encephalopathy due to defective mitochondrial and peroxisomal fission 2 encephalopathy due to mitochondrial and peroxisomal fission defect UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0014906 MONDO:0015626 True Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2a2b; Charcot-Marie-Tooth disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS MONDO:0014907 MONDO:0018770 True short-rib thoracic dysplasia 15 with polydactyly Jeune syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0014908 MONDO:0016660 True microcephaly 17, primary, autosomal recessive autosomal recessive primary microcephaly UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0014909 MONDO:0016575 True primary ciliary dyskinesia 34 primary ciliary dyskinesia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0014910 MONDO:0016575 True primary ciliary dyskinesia 35 primary ciliary dyskinesia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0014912 MONDO:0005046 True infantile-onset periodic fever-panniculitis-dermatosis syndrome immune system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0014912 MONDO:0017953 True infantile-onset periodic fever-panniculitis-dermatosis syndrome hereditary periodic fever syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014908 MONDO:0016660 True microcephaly 17, primary, autosomal recessive autosomal recessive primary microcephaly UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0014909 MONDO:0016575 True primary ciliary dyskinesia 34 primary ciliary dyskinesia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0014910 MONDO:0016575 True primary ciliary dyskinesia 35 primary ciliary dyskinesia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS MONDO:0014915 MONDO:0018770 True short-rib thoracic dysplasia 16 with or without polydactyly Jeune syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0014918 MONDO:0015159 True tall stature-intellectual disability-renal anomalies syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014920 MONDO:0020381 True patterned macular dystrophy 3 patterned macular dystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0014922 MONDO:0018943 True myofibrillar myopathy 7 myofibrillar myopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0014920 MONDO:0020381 True patterned macular dystrophy 3 patterned macular dystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0014922 MONDO:0018943 True myofibrillar myopathy 7 myofibrillar myopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS MONDO:0014923 MONDO:0019347 True peeling skin syndrome 5 peeling skin syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0014924 MONDO:0020310 True epilepsy, familial focal, with variable foci 2 familial focal epilepsy with variable foci UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0014925 MONDO:0020310 True epilepsy, familial focal, with variable foci 3 familial focal epilepsy with variable foci UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0014926 MONDO:0015229 True Bardet-Biedl syndrome 22 Bardet-Biedl syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0014927 MONDO:0018772 True Joubert syndrome 27 Joubert syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0014928 MONDO:0018772 True Joubert syndrome 28 Joubert syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0014926 MONDO:0015229 True Bardet-Biedl syndrome 22 Bardet-Biedl syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0014927 MONDO:0018772 True Joubert syndrome 27 Joubert syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0014928 MONDO:0018772 True Joubert syndrome 28 Joubert syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS MONDO:0014929 MONDO:0019200 True retinitis pigmentosa 76 retinitis pigmentosa UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0014930 MONDO:0019502 True intellectual disability, autosomal recessive 56 autosomal recessive non-syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0014930 MONDO:0019502 True intellectual disability, autosomal recessive 56 autosomal recessive non-syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS MONDO:0014932 MONDO:0015375 True orofaciodigital syndrome XV orofaciodigital syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0014935 MONDO:0015942 True frontometaphyseal dysplasia 2 frontometaphyseal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0014936 MONDO:0015159 True ZTTK syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014935 MONDO:0015942 True frontometaphyseal dysplasia 2 frontometaphyseal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS MONDO:0014937 MONDO:0007119 True aniridia 2 isolated aniridia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0014938 MONDO:0007119 True aniridia 3 isolated aniridia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0014939 MONDO:0018940 True congenital myasthenic syndrome 20 congenital myasthenic syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0014943 MONDO:0018158 True mitochondrial DNA depletion syndrome 15 (hepatocerebral type) mitochondrial DNA depletion syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0014944 MONDO:0015159 True short stature-brachydactyly-obesity-global developmental delay syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014944 MONDO:0019695 True short stature-brachydactyly-obesity-global developmental delay syndrome acromelic dysplasia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014945 MONDO:0018949 True myopathy, distal, with rimmed vacuoles distal myopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED +MONDO:0014939 MONDO:0018940 True congenital myasthenic syndrome 20 congenital myasthenic syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0014943 MONDO:0018158 True mitochondrial DNA depletion syndrome 15 (hepatocerebral type) mitochondrial DNA depletion syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS MONDO:0014950 MONDO:0019625 True aortic aneurysm, familial thoracic 10 familial thoracic aortic aneurysm and aortic dissection UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0014951 MONDO:0019502 True intellectual developmental disorder, autosomal recessive 74 autosomal recessive non-syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0014953 MONDO:0006025 True gnb5-related intellectual disability-cardiac arrhythmia syndrome autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0014959 MONDO:0018158 True mitochondrial DNA depletion syndrome 12A (cardiomyopathic type), autosomal dominant mitochondrial DNA depletion syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0014961 MONDO:0004983 True spermatogenic failure 16 spermatogenic failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0014962 MONDO:0019502 True intellectual disability, autosomal recessive 57 autosomal recessive non-syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0014951 MONDO:0019502 True intellectual developmental disorder, autosomal recessive 74 autosomal recessive non-syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0014959 MONDO:0018158 True mitochondrial DNA depletion syndrome 12A (cardiomyopathic type), autosomal dominant mitochondrial DNA depletion syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0014961 MONDO:0004983 True spermatogenic failure 16 spermatogenic failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0014962 MONDO:0019502 True intellectual disability, autosomal recessive 57 autosomal recessive non-syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS MONDO:0014965 MONDO:0017436 True lethal congenital contracture syndrome 11 lethal congenital contracture syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0014966 MONDO:0020341 True periventricular nodular heterotopia 7 periventricular nodular heterotopia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0014967 MONDO:0018677 True heterotaxy, visceral, 8, autosomal visceral heterotaxy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0014969 MONDO:0019231 True isolated sedoheptulokinase deficiency inborn disorder of pentose phosphate metabolism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014970 MONDO:0004983 True spermatogenic failure 17 spermatogenic failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0014975 MONDO:0006025 True autosomal recessive spastic paraplegia type 78 autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0014975 MONDO:0015150 True autosomal recessive spastic paraplegia type 78 complex hereditary spastic paraplegia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014976 MONDO:0000732 True lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome combined oxidative phosphorylation deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0014977 MONDO:0015152 True autosomal recessive limb-girdle muscular dystrophy type 2R1 autosomal recessive limb-girdle muscular dystrophy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0014977 MONDO:0017741 True autosomal recessive limb-girdle muscular dystrophy type 2R1 disorder of protein O-glycosylation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014981 MONDO:0003778 True immunodeficiency 49 inborn error of immunity UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0014981 MONDO:0031520 True immunodeficiency 49 familial severe combined immunodeficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0014970 MONDO:0004983 True spermatogenic failure 17 spermatogenic failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0014976 MONDO:0000732 True lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome combined oxidative phosphorylation deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0014977 MONDO:0015152 True autosomal recessive limb-girdle muscular dystrophy type 2R1 autosomal recessive limb-girdle muscular dystrophy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS MONDO:0014982 MONDO:0001384 True myopia 25, autosomal dominant myopia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0014983 MONDO:0018940 True congenital myasthenic syndrome 21 congenital myasthenic syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0014985 MONDO:0019391 True Fanconi anemia complementation group V Fanconi anemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0014986 MONDO:0019391 True Fanconi anemia complementation group R Fanconi anemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0014987 MONDO:0019391 True Fanconi anemia complementation group U Fanconi anemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0014991 MONDO:0019342 True Seckel syndrome 10 Seckel syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0014992 MONDO:0018838 True lissencephaly 8 lissencephaly spectrum disorders UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0014993 MONDO:0018943 True myofibrillar myopathy 8 myofibrillar myopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0014996 MONDO:0019502 True intellectual disability, autosomal recessive 58 autosomal recessive non-syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0014997 MONDO:0019005 True nephronophthisis 20 nephronophthisis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0014983 MONDO:0018940 True congenital myasthenic syndrome 21 congenital myasthenic syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0014985 MONDO:0019391 True Fanconi anemia complementation group V Fanconi anemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0014986 MONDO:0019391 True Fanconi anemia complementation group R Fanconi anemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0014987 MONDO:0019391 True Fanconi anemia complementation group U Fanconi anemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0014991 MONDO:0019342 True Seckel syndrome 10 Seckel syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0014992 MONDO:0018838 True lissencephaly 8 lissencephaly spectrum disorders UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0014993 MONDO:0018943 True myofibrillar myopathy 8 myofibrillar myopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0014996 MONDO:0019502 True intellectual disability, autosomal recessive 58 autosomal recessive non-syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0014997 MONDO:0019005 True nephronophthisis 20 nephronophthisis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS MONDO:0014999 MONDO:0005486 True tooth agenesis, selective, 9 tooth agenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0015000 MONDO:0100062 True developmental and epileptic encephalopathy, 48 developmental and epileptic encephalopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0015000 MONDO:0100062 True developmental and epileptic encephalopathy, 48 developmental and epileptic encephalopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS MONDO:0015001 MONDO:0018054 True atrial fibrillation, familial, 18 familial atrial fibrillation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0015002 MONDO:0100062 True developmental and epileptic encephalopathy, 49 developmental and epileptic encephalopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0015003 MONDO:0018424 True dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities inherited lipoic acid biosynthesis defect UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015003 MONDO:0024237 True dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities inherited neurodegenerative disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015003 MONDO:0044807 True dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities inherited dystonia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0015004 MONDO:0044807 True dystonia 28, childhood-onset inherited dystonia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0015006 MONDO:0017610 True epidermolysis bullosa simplex 6, generalized, with scarring and hair loss epidermolysis bullosa simplex UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0015007 MONDO:0015087 True spastic paraplegia, intellectual disability, nystagmus, and obesity autosomal dominant complex spastic paraplegia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015002 MONDO:0100062 True developmental and epileptic encephalopathy, 49 developmental and epileptic encephalopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0015003 MONDO:0044807 True dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities inherited dystonia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0015004 MONDO:0044807 True dystonia 28, childhood-onset inherited dystonia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0015006 MONDO:0017610 True epidermolysis bullosa simplex 6, generalized, with scarring and hair loss epidermolysis bullosa simplex UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0015009 MONDO:0019313 True lymphatic malformation 7 lymphatic malformation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0015010 MONDO:0011612 True atypical glycine encephalopathy glycine encephalopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0015011 MONDO:0043878 True optic atrophy 11 hereditary optic atrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0015012 MONDO:0015159 True mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015013 MONDO:0019200 True retinitis pigmentosa 77 retinitis pigmentosa UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0015015 MONDO:0018841 True congenital bile acid synthesis defect 6 congenital bile acid synthesis defect UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0015016 MONDO:0019503 True anterior segment dysgenesis 6 anterior segment dysgenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0015017 MONDO:0019503 True anterior segment dysgenesis 8 anterior segment dysgenesis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0015013 MONDO:0019200 True retinitis pigmentosa 77 retinitis pigmentosa UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0015015 MONDO:0018841 True congenital bile acid synthesis defect 6 congenital bile acid synthesis defect UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0015016 MONDO:0019503 True anterior segment dysgenesis 6 anterior segment dysgenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0015017 MONDO:0019503 True anterior segment dysgenesis 8 anterior segment dysgenesis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS MONDO:0015018 MONDO:0017265 True ichthyosis, congenital, autosomal recessive 12 autosomal recessive congenital ichthyosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0015020 MONDO:0019502 True intellectual disability, autosomal recessive 59 autosomal recessive non-syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0015021 MONDO:0003847 True hypotonia, ataxia, and delayed development syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0015023 MONDO:0018958 True MYPN-related myopathy nemaline myopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0015024 MONDO:0019287 True ectodermal dysplasia 12, hypohidrotic/hair/tooth/nail type ectodermal dysplasia syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0015025 MONDO:0100062 True developmental and epileptic encephalopathy, 51 developmental and epileptic encephalopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0015020 MONDO:0019502 True intellectual disability, autosomal recessive 59 autosomal recessive non-syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0015023 MONDO:0018958 True MYPN-related myopathy nemaline myopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0015024 MONDO:0019287 True ectodermal dysplasia 12, hypohidrotic/hair/tooth/nail type ectodermal dysplasia syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0015025 MONDO:0100062 True developmental and epileptic encephalopathy, 51 developmental and epileptic encephalopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS MONDO:0015026 MONDO:0012815 True cerebroretinal microangiopathy with calcifications and cysts 2 Coats plus syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0015027 MONDO:0016365 True familial isolated hyperparathyroidism familial primary hyperparathyroidism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015028 MONDO:0017975 True 48,XXYY syndrome sex chromosome disorder of sex development UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015029 MONDO:0015031 True reticular perineurioma extraneural perineurioma UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015030 MONDO:0015031 True sclerosing perineurioma extraneural perineurioma UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015031 MONDO:0019404 True extraneural perineurioma perineurioma UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015032 MONDO:0019404 True intraneural perineurioma perineurioma UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0015034 MONDO:0019450 True lissencephaly with cerebellar hypoplasia type A lissencephaly with cerebellar hypoplasia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015035 MONDO:0019450 True lissencephaly with cerebellar hypoplasia type B lissencephaly with cerebellar hypoplasia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015036 MONDO:0019450 True lissencephaly with cerebellar hypoplasia type C lissencephaly with cerebellar hypoplasia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015037 MONDO:0019450 True lissencephaly with cerebellar hypoplasia type D lissencephaly with cerebellar hypoplasia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015038 MONDO:0019450 True lissencephaly with cerebellar hypoplasia type E lissencephaly with cerebellar hypoplasia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015039 MONDO:0019450 True lissencephaly with cerebellar hypoplasia type F lissencephaly with cerebellar hypoplasia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015040 MONDO:0019454 True myelodysplastic syndrome with excess blasts-1 myelodysplastic syndrome with excess blasts UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015041 MONDO:0019454 True myelodysplastic syndrome with excess blasts-2 myelodysplastic syndrome with excess blasts UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015042 MONDO:0005615 True primary plasmacytoma of the bone plasmacytoma UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015043 MONDO:0005615 True extramedullary soft tissue plasmacytoma plasmacytoma UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015044 MONDO:0019464 True mu-heavy chain disease heavy chain disease UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0015045 MONDO:0019464 True alpha-heavy chain disease heavy chain disease UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0015046 MONDO:0019464 True gamma-heavy chain disease heavy chain disease UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0015047 MONDO:0019507 True amelogenesis imperfecta type 1 amelogenesis imperfecta UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015048 MONDO:0019507 True amelogenesis imperfecta type 2 amelogenesis imperfecta UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015053 MONDO:0033946 True hereditary angioedema type 1 hereditary angioedema with C1Inh deficiency UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015054 MONDO:0033946 True hereditary angioedema type 2 hereditary angioedema with C1Inh deficiency UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015055 MONDO:0019624 True acquired angioedema type 2 acquired angioedema UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015056 MONDO:0019624 True acquired angioedema type 1 acquired angioedema UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015057 MONDO:0019624 True renin-angiotensin-aldosterone system-blocker-induced angioedema acquired angioedema UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015061 MONDO:0005979 True neurogenic thoracic outlet syndrome thoracic outlet syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015027 MONDO:0015356 True familial isolated hyperparathyroidism hereditary neoplastic syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015028 MONDO:0002254 True 48,XXYY syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015032 MONDO:0019404 True intraneural perineurioma perineurioma UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0015040 MONDO:0019454 True myelodysplastic syndrome with excess blasts-1 myelodysplastic syndrome with excess blasts UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015041 MONDO:0019454 True myelodysplastic syndrome with excess blasts-2 myelodysplastic syndrome with excess blasts UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015044 MONDO:0019464 True mu-heavy chain disease heavy chain disease UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0015045 MONDO:0019464 True alpha-heavy chain disease heavy chain disease UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0015046 MONDO:0019464 True gamma-heavy chain disease heavy chain disease UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0015062 MONDO:0000386 True gastric neuroendocrine tumor, well differentiated, low or intermediate grade digestive system neuroendocrine tumor, grade 1/2 UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015062 MONDO:0003111 True gastric neuroendocrine tumor, well differentiated, low or intermediate grade gastric neuroendocrine neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015063 MONDO:0002995 True duodenal neuroendocrine tumor, well differentiated, low or intermediate grade small intestine neuroendocrine tumor, well differentiated, low or intermediate grade UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -12701,7 +7685,6 @@ MONDO:0015064 MONDO:0002564 True jejunal neuroendocrine tumor, well differentiat MONDO:0015064 MONDO:0002995 True jejunal neuroendocrine tumor, well differentiated, low or intermediate grade small intestine neuroendocrine tumor, well differentiated, low or intermediate grade UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015065 MONDO:0002995 True ileal neuroendocrine tumor, well differentiated, low or intermediate grade small intestine neuroendocrine tumor, well differentiated, low or intermediate grade UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015065 MONDO:0006801 True ileal neuroendocrine tumor, well differentiated, low or intermediate grade ileal neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015066 MONDO:0018511 True neuroendocrine tumor of the appendix, well differentiated, low or intermediate grade epithelial tumor of the appendix UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015066 MONDO:0024501 True neuroendocrine tumor of the appendix, well differentiated, low or intermediate grade appendix neuroendocrine neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015067 MONDO:0000386 True neuroendocrine tumor of the colon, well differentiated, low or intermediate grade tumor digestive system neuroendocrine tumor, grade 1/2 UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015067 MONDO:0002882 True neuroendocrine tumor of the colon, well differentiated, low or intermediate grade tumor colon neuroendocrine neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -12709,970 +7692,246 @@ MONDO:0015068 MONDO:0000386 True neuroendocrine tumor of rectum, well differenti MONDO:0015068 MONDO:0003646 True neuroendocrine tumor of rectum, well differentiated, low or intermediate grade rectum neuroendocrine neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015069 MONDO:0003504 True neuroendocrine tumor of the anal canal anal canal neuroendocrine neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015070 MONDO:0005586 True laryngeal neuroendocrine neoplasm head and neck neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015070 MONDO:0019496 True laryngeal neuroendocrine neoplasm neuroendocrine neoplasm UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0015070 MONDO:0019496 True laryngeal neuroendocrine neoplasm neuroendocrine neoplasm UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0015070 MONDO:0021071 True laryngeal neuroendocrine neoplasm laryngeal neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015071 MONDO:0019496 True middle ear neuroendocrine tumor neuroendocrine neoplasm UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015070 MONDO:0024623 True laryngeal neuroendocrine neoplasm otorhinolaryngologic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015072 MONDO:0002120 True liver neuroendocrine carcinoma neuroendocrine carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015072 MONDO:0018531 True liver neuroendocrine carcinoma carcinoma of liver and intrahepatic biliary tract UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015072 MONDO:0024503 True liver neuroendocrine carcinoma digestive system neuroendocrine neoplasm UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015073 MONDO:0000386 True gallbladder neuroendocrine tumor, grade 1/2 digestive system neuroendocrine tumor, grade 1/2 UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015073 MONDO:0024502 True gallbladder neuroendocrine tumor, grade 1/2 gallbladder neuroendocrine neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015074 MONDO:0003240 True thyroid tumor thyroid gland disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015075 MONDO:0002108 True thyroid gland carcinoma thyroid cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0015075 MONDO:0004993 True thyroid gland carcinoma carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0015079 MONDO:0015126 True multiple polyglandular tumor polyendocrinopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015082 MONDO:0004907 True alopecia antibody deficiency alopecia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015085 MONDO:0017265 True bathing suit ichthyosis autosomal recessive congenital ichthyosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015086 MONDO:0015338 True cloverleaf skull-asphyxiating thoracic dysplasia syndrome syndromic craniosynostosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015087 MONDO:0015150 True autosomal dominant complex spastic paraplegia complex hereditary spastic paraplegia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015092 MONDO:0016064 True cleft hard palate cleft palate UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015093 MONDO:0016292 True sub-cortical nodular heterotopia nodular neuronal heterotopia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015094 MONDO:0016292 True subependymal nodular heterotopia nodular neuronal heterotopia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015097 MONDO:0017735 True aortic valve dysplasia congenital aortic valve stenosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015099 MONDO:0017092 True unilateral hemispheric polymicrogyria unilateral polymicrogyria UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015100 MONDO:0019453 True aregenerative anemia myelodysplastic syndrome with multilineage dysplasia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015101 MONDO:0007946 True Marin-Amat syndrome jaw-winking syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015103 MONDO:0020064 True pulmonary valve agenesis-tetralogy of fallot-absence of ductus arteriosus syndrome pulmonary valve agenesis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015104 MONDO:0002520 True porphyria cutanea tarda hepatic porphyria UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0015109 MONDO:0019817 True congenital anomaly of the mitral subvalvular apparatus congenital mitral valve insufficiency and/or stenosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015129 MONDO:0000004 True chronic primary adrenal insufficiency adrenocortical insufficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0015129 MONDO:0015128 True chronic primary adrenal insufficiency primary adrenal insufficiency UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015137 MONDO:0019751 True periodic fever syndrome autoinflammatory syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015140 MONDO:0015547 True early-onset autosomal dominant Alzheimer disease hereditary dementia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015140 MONDO:0024237 True early-onset autosomal dominant Alzheimer disease inherited neurodegenerative disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015146 MONDO:0018838 True classic lissencephaly lissencephaly spectrum disorders UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015148 MONDO:0018838 True lissencephaly type 3 lissencephaly spectrum disorders UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0015149 MONDO:0019064 True pure hereditary spastic paraplegia hereditary spastic paraplegia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015150 MONDO:0019064 True complex hereditary spastic paraplegia hereditary spastic paraplegia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015151 MONDO:0000426 True muscular dystrophy, limb-girdle, autosomal dominant autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0015151 MONDO:0016971 True muscular dystrophy, limb-girdle, autosomal dominant limb-girdle muscular dystrophy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0015152 MONDO:0006025 True autosomal recessive limb-girdle muscular dystrophy autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0015152 MONDO:0016971 True autosomal recessive limb-girdle muscular dystrophy limb-girdle muscular dystrophy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0015157 MONDO:0017341 True human herpesvirus 8-related tumor virus associated tumor UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015158 MONDO:0015137 True unexplained periodic fever syndrome periodic fever syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015159 MONDO:0019042 True multiple congenital anomalies/dysmorphic syndrome-intellectual disability multiple congenital anomalies/dysmorphic syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015161 MONDO:0019042 True multiple congenital anomalies/dysmorphic syndrome without intellectual disability multiple congenital anomalies/dysmorphic syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015164 MONDO:0019457 True acute myeloid leukemia and myelodysplastic syndromes related to alkylating agent therapy related acute myeloid leukemia and myelodysplastic syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015165 MONDO:0019457 True acute myeloid leukemia and myelodysplastic syndromes related to topoisomerase type 2 inhibitor therapy related acute myeloid leukemia and myelodysplastic syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015166 MONDO:0018874 True acute myeloid leukemia with t(8;21)(q22;q22) translocation acute myeloid leukemia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015167 MONDO:0018234 True amniotic band syndrome dysostosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015168 MONDO:0003847 True arthrogryposis multiplex congenita hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0015168 MONDO:0015225 True arthrogryposis multiplex congenita arthrogryposis syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015169 MONDO:0017706 True chronic diarrhea due to glucoamylase deficiency disorder of carbohydrate transmembrane transport and absorption UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015175 MONDO:0000569 True autoimmune pancreatitis autoimmune disorder of endocrine system UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0015177 MONDO:0018230 True metaphyseal anadysplasia skeletal dysplasia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015183 MONDO:0005020 True short bowel syndrome intestinal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0015185 MONDO:0015356 True intestinal polyposis syndrome hereditary neoplastic syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015191 MONDO:0017574 True myopathic intestinal pseudoobstruction chronic intestinal pseudoobstruction UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015193 MONDO:0019755 True hydrops fetalis developmental defect during embryogenesis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015194 MONDO:0002280 True sideroblastic anemia anemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0015195 MONDO:0018559 True atresia of urethra fetal lower urinary tract obstruction UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015201 MONDO:0019755 True ankyloblepharon filiforme-imperforate anus syndrome developmental defect during embryogenesis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015203 MONDO:0019512 True coronary artery congenital malformation congenital heart malformation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015204 MONDO:0018838 True microlissencephaly lissencephaly spectrum disorders UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0015205 MONDO:0015146 True isolated lissencephaly type 1 without known genetic defects classic lissencephaly UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015225 MONDO:0019054 True arthrogryposis syndrome congenital limb malformation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015229 MONDO:0002254 True Bardet-Biedl syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0015229 MONDO:0005308 True Bardet-Biedl syndrome ciliopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0015229 MONDO:0006025 True Bardet-Biedl syndrome autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0015230 MONDO:0015161 True anophthalmia-megalocornea-cardiopathy-skeletal anomalies syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015231 MONDO:0006510 True Bartter syndrome renal tubular transport disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0015231 MONDO:0015962 True Bartter syndrome inherited renal tubular disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015232 MONDO:0018234 True radial deficiency-tibial hypoplasia syndrome dysostosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015232 MONDO:0019054 True radial deficiency-tibial hypoplasia syndrome congenital limb malformation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015233 MONDO:0015159 True caudal appendage-deafness syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015234 MONDO:0015159 True arachnodactyly-abnormal ossification-intellectual disability syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015236 MONDO:0020292 True aortic arch defects congenital anomaly of the great arteries UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015238 MONDO:0015161 True arrhinia-choanal atresia-microphthalmia syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015239 MONDO:0016581 True abnormal origin of the pulmonary artery conotruncal heart malformations UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015240 MONDO:0015161 True digitotalar dysmorphism multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015240 MONDO:0019942 True digitotalar dysmorphism distal arthrogryposis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0015241 MONDO:0015168 True arthrogryposis-like syndrome arthrogryposis multiplex congenita UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015243 MONDO:0000771 True allergic bronchopulmonary aspergillosis allergic respiratory disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0015243 MONDO:0005657 True allergic bronchopulmonary aspergillosis aspergillosis SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0015244 MONDO:0006025 True autosomal recessive cerebellar ataxia autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0015247 MONDO:0018215 True opsoclonus-myoclonus syndrome paraneoplastic neurologic syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015248 MONDO:0015159 True ataxia-photosensitivity-short stature syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015248 MONDO:0100309 True ataxia-photosensitivity-short stature syndrome hereditary ataxia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015249 MONDO:0019817 True mitral atresia disorder congenital mitral valve insufficiency and/or stenosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015250 MONDO:0016113 True spinal atrophy-ophthalmoplegia-pyramidal syndrome bulbospinal muscular atrophy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015252 MONDO:0015159 True severe microbrachycephaly-intellectual disability-athetoid cerebral palsy syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015252 MONDO:0100309 True severe microbrachycephaly-intellectual disability-athetoid cerebral palsy syndrome hereditary ataxia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015253 MONDO:0001713 True Diamond-Blackfan anemia inherited aplastic anemia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0015254 MONDO:0004664 True schistosomiasis helminthiasis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0015259 MONDO:0015159 True brachydactyly-mesomelia-intellectual disability-heart defects syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015261 MONDO:0004907 True pseudopelade of Brocq alopecia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015262 MONDO:0005516 True brachyolmia osteochondrodysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0015262 MONDO:0019694 True brachyolmia spondylodysplastic dysplasia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015263 MONDO:0000992 True Brugada syndrome heart conduction disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0015263 MONDO:0003847 True Brugada syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0015264 MONDO:0002429 True cryptogenic organizing pneumonia idiopathic interstitial pneumonia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0015265 MONDO:0015925 True bronchiolitis obliterans syndrome interstitial lung disease UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0015267 MONDO:0000426 True Feingold syndrome autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0015267 MONDO:0002254 True Feingold syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0015270 MONDO:0019253 True butyrylcholinesterase deficiency metabolic disease involving other neurotransmitter deficiency UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015271 MONDO:0016105 True idiopathic camptocormia acquired skeletal muscle disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015272 MONDO:0019054 True camptodactyly-taurinuria syndrome congenital limb malformation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015273 MONDO:0020290 True complete atrioventricular canal familial atrioventricular septal defect UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015274 MONDO:0015926 True chronic beryllium disease pneumoconiosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0015275 MONDO:0020290 True partial atrioventricular canal familial atrioventricular septal defect UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015075 MONDO:0002108 True thyroid gland carcinoma thyroid cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0015075 MONDO:0004993 True thyroid gland carcinoma carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0015104 MONDO:0002406 True porphyria cutanea tarda dermatitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0015128 MONDO:0005495 True primary adrenal insufficiency adrenal gland disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015129 MONDO:0000004 True chronic primary adrenal insufficiency adrenocortical insufficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0015129 MONDO:0015128 True chronic primary adrenal insufficiency primary adrenal insufficiency UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015131 MONDO:0021094 True combined immunodeficiency immunodeficiency disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015134 MONDO:0009332 True constitutional neutropenia congenital hematological disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015194 MONDO:0002280 True sideroblastic anemia anemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0015228 MONDO:0002254 True pentasomy X syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015229 MONDO:0002254 True Bardet-Biedl syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0015231 MONDO:0002254 True Bartter syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0015243 MONDO:0005657 True allergic bronchopulmonary aspergillosis aspergillosis SUPPORTED UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0015249 MONDO:0003767 True mitral atresia disorder mitral valve disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015249 MONDO:0005453 True mitral atresia disorder congenital heart disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015253 MONDO:0001705 True Diamond-Blackfan anemia pure red-cell aplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0015263 MONDO:0002254 True Brugada syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0015267 MONDO:0002254 True Feingold syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0015268 MONDO:0002473 True medullary sponge kidney cystic kidney disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015277 MONDO:0002120 True medullary thyroid gland carcinoma neuroendocrine carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0015278 MONDO:0005192 True familial pancreatic carcinoma exocrine pancreatic carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015279 MONDO:0003778 True chronic mucocutaneous candidiasis inborn error of immunity UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0015280 MONDO:0015159 True cardiofaciocutaneous syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015280 MONDO:0019287 True cardiofaciocutaneous syndrome ectodermal dysplasia syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS -MONDO:0015280 MONDO:0020297 True cardiofaciocutaneous syndrome Noonan syndrome and Noonan-related syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015281 MONDO:0016340 True atrial standstill familial restrictive cardiomyopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015284 MONDO:0015161 True heart-hand syndrome type 2 multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015284 MONDO:0016432 True heart-hand syndrome type 2 heart-hand syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015285 MONDO:0000426 True Carney complex autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0015286 MONDO:0019052 True congenital disorder of glycosylation inborn errors of metabolism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0015289 MONDO:0023865 True infectious epithelial keratitis corneal infection UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015293 MONDO:0017623 True segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndrome PTEN hamartoma tumor syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015293 MONDO:0019716 True segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndrome overgrowth syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015301 MONDO:0019065 True primary cutaneous amyloidosis amyloidosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0015301 MONDO:0021154 True primary cutaneous amyloidosis dermis disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015302 MONDO:0015301 True nodular cutaneous amyloidosis primary cutaneous amyloidosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015303 MONDO:0015301 True macular amyloidosis primary cutaneous amyloidosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015304 MONDO:0004796 True arachnoiditis infectious meningitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0015306 MONDO:0000315 True Lemierre syndrome commensal bacterial infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0015307 MONDO:0020128 True Madras motor neuron disease motor neuron disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015312 MONDO:0012155 True choanal atresia, unilateral choanal atresia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015313 MONDO:0012155 True choanal atresia, bilateral choanal atresia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015317 MONDO:0016223 True laryngotracheal angioma infantile hemangioma of rare localization UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015324 MONDO:0015159 True cataract-intellectual disability-anal atresia-urinary defects syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015325 MONDO:0015159 True cataract-deafness-hypogonadism syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015326 MONDO:0015161 True night blindness-skeletal anomalies-dysmorphism syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015327 MONDO:0019755 True developmental anomaly of metabolic origin developmental defect during embryogenesis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015333 MONDO:0019755 True progeroid syndrome developmental defect during embryogenesis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015337 MONDO:0015469 True isolated craniosynostosis craniosynostosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015338 MONDO:0015469 True syndromic craniosynostosis craniosynostosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015339 MONDO:0018544 True adrenomyeloneuropathy adrenoleukodystrophy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015339 MONDO:0020127 True adrenomyeloneuropathy hereditary peripheral neuropathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015340 MONDO:0017396 True drug rash with eosinophilia and systemic symptoms toxic dermatosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015344 MONDO:0015342 True idiopathic acute transverse myelitis acute transverse myelitis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015345 MONDO:0020072 True perioral myoclonia with absences childhood-onset epilepsy syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015346 MONDO:0020072 True Jeavons syndrome childhood-onset epilepsy syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015347 MONDO:0002254 True multicentric reticulohistiocytosis syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0015347 MONDO:0015531 True multicentric reticulohistiocytosis non-Langerhans cell histiocytosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0015348 MONDO:0019046 True leukoencephalopathy with bilateral anterior temporal lobe cysts leukodystrophy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015349 MONDO:0019046 True progressive cavitating leukoencephalopathy leukodystrophy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015350 MONDO:0016967 True 17q11.2 microduplication syndrome partial duplication of the long arm of chromosome 17 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015351 MONDO:0020127 True neuropathy with hearing impairment hereditary peripheral neuropathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015352 MONDO:0015362 True distal hereditary motor neuropathy type 2 neuronopathy, distal hereditary motor, autosomal dominant UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0015353 MONDO:0100350 True neuronopathy, distal hereditary motor, type 5A neuronopathy, distal hereditary motor, type 5 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0015355 MONDO:0015362 True distal hereditary motor neuropathy type 7 neuronopathy, distal hereditary motor, autosomal dominant UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0015362 MONDO:0000426 True neuronopathy, distal hereditary motor, autosomal dominant autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0015362 MONDO:0001516 True neuronopathy, distal hereditary motor, autosomal dominant spinal muscular atrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0015362 MONDO:0018894 True neuronopathy, distal hereditary motor, autosomal dominant distal hereditary motor neuropathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015363 MONDO:0006025 True neuronopathy, distal hereditary motor, autosomal recessive autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0015363 MONDO:0018894 True neuronopathy, distal hereditary motor, autosomal recessive distal hereditary motor neuropathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015364 MONDO:0020127 True hereditary sensory and autonomic neuropathy hereditary peripheral neuropathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015367 MONDO:0015161 True Charlie M syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015367 MONDO:0017139 True Charlie M syndrome oromandibular-limb hypogenesis syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015369 MONDO:0020043 True Joubert syndrome and related disorders autosomal recessive congenital cerebellar ataxia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015371 MONDO:0021154 True linear atrophoderma of Moulin dermis disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015375 MONDO:0015498 True orofaciodigital syndrome oromandibular-limb anomalies syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015376 MONDO:0015476 True first branchial cleft anomaly cysts and fistulae of the face and oral cavity UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015377 MONDO:0015476 True third branchial cleft anomaly cysts and fistulae of the face and oral cavity UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015378 MONDO:0015476 True fourth branchial cleft anomaly cysts and fistulae of the face and oral cavity UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015379 MONDO:0015476 True cervical dermoid cyst cysts and fistulae of the face and oral cavity UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015380 MONDO:0015476 True facial dermoid cyst cysts and fistulae of the face and oral cavity UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015381 MONDO:0015476 True commissural lip fistula cysts and fistulae of the face and oral cavity UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015382 MONDO:0015476 True lower lip fistula cysts and fistulae of the face and oral cavity UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015383 MONDO:0015476 True cervicofacial fibrochondroma cysts and fistulae of the face and oral cavity UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015384 MONDO:0015476 True digestive duplication cyst of the tongue cysts and fistulae of the face and oral cavity UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015386 MONDO:0019500 True epignathus extragonadal teratoma UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015391 MONDO:0019500 True nasopharyngeal teratoma extragonadal teratoma UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015393 MONDO:0016733 True nasal ganglioglioma ganglioglioma UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015394 MONDO:0016057 True nasal encephalocele isolated encephalocele UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015397 MONDO:0002254 True craniofacial microsomia 1 syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0015399 MONDO:0017139 True glossopalatine ankylosis oromandibular-limb hypogenesis syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015400 MONDO:0015500 True frontonasal arteriovenous malformation facial arteriovenous malformation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015401 MONDO:0015500 True maxillary arteriovenous malformation facial arteriovenous malformation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015402 MONDO:0015500 True mandibular arteriovenous malformation facial arteriovenous malformation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015403 MONDO:0018715 True non-involuting congenital hemangioma congenital hemangioma UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015404 MONDO:0018715 True rapidly involuting congenital hemangioma congenital hemangioma UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015406 MONDO:0015405 True cerebrofacial arteriovenous metameric syndrome type 1 cerebrofacial arteriovenous metameric syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015407 MONDO:0015405 True cerebrofacial arteriovenous metameric syndrome type 3 cerebrofacial arteriovenous metameric syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015408 MONDO:0002013 True diffuse lymphatic malformation lymphangioma UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0015410 MONDO:0015476 True nasal dorsum fistula/cyst cysts and fistulae of the face and oral cavity UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015411 MONDO:0019755 True facial cleft developmental defect during embryogenesis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015413 MONDO:0015411 True median cleft of the upper lip and maxilla facial cleft UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015416 MONDO:0015411 True Tessier number 5 facial cleft facial cleft UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015417 MONDO:0015411 True Tessier number 6 facial cleft facial cleft UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015419 MONDO:0015411 True midline cervical cleft facial cleft UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015421 MONDO:0015375 True orofaciodigital syndrome type 12 orofaciodigital syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015422 MONDO:0015375 True orofaciodigital syndrome type 13 orofaciodigital syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015426 MONDO:0005516 True Desbuquois dysplasia osteochondrodysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0015426 MONDO:0019755 True Desbuquois dysplasia developmental defect during embryogenesis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015427 MONDO:0016058 True paroxysmal dyskinesia paroxysmal dystonia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015428 MONDO:0019287 True choroidal atrophy-alopecia syndrome ectodermal dysplasia syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015445 MONDO:0007345 True autosomal dominant coarctation of aorta aorta coarctation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015446 MONDO:0007345 True atypical coarctation of aorta aorta coarctation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015447 MONDO:0015075 True differentiated thyroid carcinoma thyroid gland carcinoma UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0015449 MONDO:0019512 True criss-cross heart congenital heart malformation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015450 MONDO:0019512 True triatrial heart congenital heart malformation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015451 MONDO:0019820 True univentricular heart univentricular cardiopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015452 MONDO:0002254 True Coffin-Siris syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0015452 MONDO:0003847 True Coffin-Siris syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0015452 MONDO:0015159 True Coffin-Siris syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015453 MONDO:0005328 True Cogan syndrome eye disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0015454 MONDO:0019214 True multiple carboxylase deficiency inborn carbohydrate metabolic disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0015454 MONDO:0019215 True multiple carboxylase deficiency classic organic aciduria UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015458 MONDO:0015159 True intellectual disability-hypoplastic corpus callosum-preauricular tag syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015288 MONDO:0023865 True herpes simplex virus keratitis corneal infection UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015342 MONDO:0002565 True acute transverse myelitis myelitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015356 MONDO:0003847 True hereditary neoplastic syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015356 MONDO:0021058 True hereditary neoplastic syndrome neoplastic syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015397 MONDO:0002254 True craniofacial microsomia 1 syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0015403 MONDO:0018715 True non-involuting congenital hemangioma congenital hemangioma UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015404 MONDO:0018715 True rapidly involuting congenital hemangioma congenital hemangioma UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015426 MONDO:0005516 True Desbuquois dysplasia osteochondrodysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0015447 MONDO:0015075 True differentiated thyroid carcinoma thyroid gland carcinoma UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0015452 MONDO:0002254 True Coffin-Siris syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0015455 MONDO:0006668 True gonococcal conjunctivitis bacterial conjunctivitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015459 MONDO:0002038 True nasopharyngeal carcinoma head and neck carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0015459 MONDO:0017344 True nasopharyngeal carcinoma Epstein-Barr virus-associated carcinoma UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015459 MONDO:0021315 True nasopharyngeal carcinoma malignant tumor of nasopharynx UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015459 MONDO:0021345 True nasopharyngeal carcinoma carcinoma of pharynx UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015461 MONDO:0015929 True short rib-polydactyly syndrome thoracic malformation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015461 MONDO:0019691 True short rib-polydactyly syndrome short rib dysplasia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015462 MONDO:0018230 True thin ribs-tubular bones-dysmorphism syndrome skeletal dysplasia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015463 MONDO:0015159 True craniodigital syndrome-intellectual disability syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015464 MONDO:0015856 True craniofrontonasal dysplasia-Poland anomaly syndrome syndromic breast hypoplasia/aplasia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015464 MONDO:0016643 True craniofrontonasal dysplasia-Poland anomaly syndrome frontonasal dysplasia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015466 MONDO:0016620 True cranio-osteoarthropathy primary hypertrophic osteoarthropathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015467 MONDO:0015338 True craniosynostosis, Philadelphia type syndromic craniosynostosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015469 MONDO:0001411 True craniosynostosis synostosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0015471 MONDO:0020073 True benign focal seizures of adolescence adolescent-onset epilepsy syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015473 MONDO:0015159 True cryptorchidism-arachnodactyly-intellectual disability syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015474 MONDO:0005707 True cryptosporidiosis coccidiosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0015476 MONDO:0019755 True cysts and fistulae of the face and oral cavity developmental defect during embryogenesis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015477 MONDO:0015476 True pinnae fistula or cyst cysts and fistulae of the face and oral cavity UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015479 MONDO:0016064 True submucosal cleft palate cleft palate UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015480 MONDO:0015411 True coloboma of superior eyelid facial cleft UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015481 MONDO:0015411 True coloboma of inferior eyelid facial cleft UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015484 MONDO:0000367 True cysticercosis taeniasis UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0015486 MONDO:0000942 True keratoconus corneal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0015487 MONDO:0016387 True fatal infantile encephalocardiomyopathy mitochondrial oxidative phosphorylation disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015491 MONDO:0018882 True immune complex mediated vasculitis vasculitis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015494 MONDO:0044807 True isolated dystonia inherited dystonia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015496 MONDO:0019755 True macroglossia developmental defect during embryogenesis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015515 MONDO:0017716 True carnitine palmitoyltransferase II deficiency disorder of carnitine cycle and carnitine transport UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015517 MONDO:0015356 True common variable immunodeficiency hereditary neoplastic syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015519 MONDO:0800448 True congenital or early infantile CACH syndrome leukoencephalopathy with vanishing white matter UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015520 MONDO:0800448 True late infantile CACH syndrome leukoencephalopathy with vanishing white matter UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015521 MONDO:0800448 True juvenile or adult CACH syndrome leukoencephalopathy with vanishing white matter UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015523 MONDO:0002095 True epithelioid hemangioendothelioma vascular cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0015461 MONDO:0002254 True short rib-polydactyly syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015486 MONDO:0000942 True keratoconus corneal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0015517 MONDO:0016463 True common variable immunodeficiency syndromic agammaglobulinemia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015523 MONDO:0002095 True epithelioid hemangioendothelioma vascular cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0015523 MONDO:0021121 True epithelioid hemangioendothelioma hemangioendothelioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015524 MONDO:0015185 True hyperplastic polyposis syndrome intestinal polyposis syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015525 MONDO:0018234 True congenital pseudoarthrosis of the limbs dysostosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015526 MONDO:0018431 True cold-induced sweating syndrome cold-induced sweating syndrome - hyperthermia spectrum UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015528 MONDO:0003396 True congenital epulis epulis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0015529 MONDO:0015530 True paroxysmal Hemicrania trigeminal autonomic cephalalgia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015531 MONDO:0002637 True non-Langerhans cell histiocytosis histiocytosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0015532 MONDO:0015531 True generalized eruptive histiocytosis non-Langerhans cell histiocytosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015533 MONDO:0015531 True benign cephalic histiocytosis non-Langerhans cell histiocytosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015534 MONDO:0015531 True juvenile xanthogranuloma non-Langerhans cell histiocytosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0015535 MONDO:0015531 True xanthoma disseminatum non-Langerhans cell histiocytosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015536 MONDO:0015531 True papular xanthoma non-Langerhans cell histiocytosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015537 MONDO:0015531 True necrobiotic xanthogranuloma non-Langerhans cell histiocytosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015538 MONDO:0006247 True indeterminate dendritic cell tumor histiocytic and dendritic cell neoplasm UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015538 MONDO:0015531 True indeterminate dendritic cell tumor non-Langerhans cell histiocytosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015539 MONDO:0015531 True progressive nodular histiocytosis non-Langerhans cell histiocytosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015540 MONDO:0005833 True hemophagocytic syndrome lymphatic system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0015541 MONDO:0003778 True hereditary hemophagocytic lymphohistiocytosis inborn error of immunity UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015541 MONDO:0015540 True hereditary hemophagocytic lymphohistiocytosis hemophagocytic syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015542 MONDO:0015540 True secondary hemophagocytic lymphohistiocytosis hemophagocytic syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015544 MONDO:0015542 True acquired hemophagocytic lymphohistiocytosis associated with malignant disease secondary hemophagocytic lymphohistiocytosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015545 MONDO:0015542 True macrophage activation syndrome secondary hemophagocytic lymphohistiocytosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015546 MONDO:0016909 True non-distal monosomy 10q partial monosomy of the long arm of chromosome 10 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015552 MONDO:0006543 True acral dystrophic epidermolysis bullosa epidermolysis bullosa dystrophica UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015553 MONDO:0006543 True dystrophic epidermolysis bullosa, nails only epidermolysis bullosa dystrophica UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015554 MONDO:0019316 True typical urticaria pigmentosa maculopapular cutaneous mastocytosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015555 MONDO:0019316 True plaque-form urticaria pigmentosa maculopapular cutaneous mastocytosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015556 MONDO:0019316 True nodular urticaria pigmentosa maculopapular cutaneous mastocytosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015562 MONDO:0016915 True distal monosomy 17q partial deletion of the long arm of chromosome 17 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015564 MONDO:0016537 True Castleman disease lymphoproliferative syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0015566 MONDO:0016901 True 2q24 microdeletion syndrome partial deletion of the long arm of chromosome 2 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015570 MONDO:0015604 True isolated congenital auditory ossicle malformation middle ear anomaly UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015571 MONDO:0016904 True deletion 5q35 partial deletion of the long arm of chromosome 5 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015579 MONDO:0011399 True Hb Bart's hydrops fetalis alpha thalassemia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015580 MONDO:0016906 True distal monosomy 7q36 partial deletion of the long arm of chromosome 7 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015583 MONDO:0016884 True 2p21 microdeletion syndrome partial deletion of the short arm of chromosome 2 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015584 MONDO:0020072 True febrile infection-related epilepsy syndrome childhood-onset epilepsy syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015585 MONDO:0020072 True cryptogenic late-onset epileptic spasms childhood-onset epilepsy syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015587 MONDO:0020072 True rolandic epilepsy-speech dyspraxia syndrome childhood-onset epilepsy syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015588 MONDO:0019956 True limbic encephalitis encephalitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0015597 MONDO:0002406 True pustulosis palmaris et plantaris dermatitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0015597 MONDO:0019268 True pustulosis palmaris et plantaris epidermal disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015601 MONDO:0020119 True X-linked intellectual disability, van Esch type X-linked syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0015604 MONDO:0019755 True middle ear anomaly developmental defect during embryogenesis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015605 MONDO:0020040 True distal monosomy 9p 46,XY disorder of sex development UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015606 MONDO:0017004 True Xp22.3 microdeletion syndrome partial monosomy of the short arm of chromosome X UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015608 MONDO:0019457 True acute myeloid leukemia and myelodysplastic syndromes related to radiation therapy related acute myeloid leukemia and myelodysplastic syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015609 MONDO:0003847 True advanced sleep phase syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0015610 MONDO:0015909 True acquired aplastic anemia aplastic anemia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015611 MONDO:0018117 True neutral lipid storage disease disorder of phospholipids, sphingolipids and fatty acids biosynthesis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015611 MONDO:0019245 True neutral lipid storage disease lysosomal lipid storage disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0015612 MONDO:0006510 True Dent disease renal tubular transport disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0015612 MONDO:0015962 True Dent disease inherited renal tubular disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015613 MONDO:0002220 True dentin dysplasia tooth hard tissue disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0015614 MONDO:0019337 True dermatitis herpetiformis autoimmune bullous skin disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0015622 MONDO:0020568 True wound myiasis cutaneous myiasis UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015623 MONDO:0019147 True cavitary myiasis myiasis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015624 MONDO:0019010 True diazoxide-sensitive diffuse hyperinsulinism congenital isolated hyperinsulinism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015625 MONDO:0017186 True diazoxide-resistant diffuse hyperinsulinism diazoxide-resistant hyperinsulinism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015626 MONDO:0020127 True Charcot-Marie-Tooth disease hereditary peripheral neuropathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015627 MONDO:0016648 True multiple epiphyseal dysplasia due to collagen 9 anomaly multiple epiphyseal dysplasia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0015628 MONDO:0013304 True von Willebrand disease type 2A von Willebrand disease 2 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015629 MONDO:0013304 True von Willebrand disease type 2B von Willebrand disease 2 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015630 MONDO:0013304 True von Willebrand disease type 2M von Willebrand disease 2 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015631 MONDO:0013304 True von Willebrand disease type 2N von Willebrand disease 2 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015632 MONDO:0016387 True FASTKD2-related infantile mitochondrial encephalomyopathy mitochondrial oxidative phosphorylation disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015636 MONDO:0016075 True dirofilariasis filariasis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0015637 MONDO:0015642 True benign non-familial infantile seizures benign partial infantile seizures UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015638 MONDO:0015637 True benign partial epilepsy of infancy with complex partial seizures benign non-familial infantile seizures UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015639 MONDO:0015637 True benign partial epilepsy with secondarily generalized seizures in infancy benign non-familial infantile seizures UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015640 MONDO:0015642 True benign infantile seizures associated with mild gastroenteritis benign partial infantile seizures UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015641 MONDO:0015642 True benign infantile focal epilepsy with midline spikes and wave during sleep benign partial infantile seizures UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015642 MONDO:0020071 True benign partial infantile seizures infantile epilepsy syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015644 MONDO:0017768 True audiogenic seizures reflex epilepsy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015645 MONDO:0017768 True eating seizures reflex epilepsy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015646 MONDO:0017768 True orgasm-induced seizures reflex epilepsy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015647 MONDO:0017768 True thinking seizures reflex epilepsy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015648 MONDO:0017768 True startle epilepsy reflex epilepsy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015649 MONDO:0017768 True micturation-induced seizures reflex epilepsy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015661 MONDO:0005453 True dextrocardia congenital heart disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0015661 MONDO:0018677 True dextrocardia visceral heterotaxy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0015664 MONDO:0020292 True idiopathic pulmonary artery dilatation congenital anomaly of the great arteries UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015665 MONDO:0018432 True scleromyxedema lichen myxedematosus UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015666 MONDO:0019512 True familial idiopathic dilatation of the right atrium congenital heart malformation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015667 MONDO:0018874 True acute myeloid leukemia by FAB classification acute myeloid leukemia UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015674 MONDO:0002561 True late infantile neuronal ceroid lipofuscinosis lysosomal storage disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015677 MONDO:0019512 True cardiac diverticulum congenital heart malformation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015678 MONDO:0018230 True dysplasia of head of femur, Meyer type skeletal dysplasia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015681 MONDO:0000594 True childhood disintegrative disorder pervasive developmental disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0015687 MONDO:0001014 True chronic eosinophilic leukemia chronic leukemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0015687 MONDO:0020076 True chronic eosinophilic leukemia myeloproliferative neoplasm UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0015688 MONDO:0015756 True myeloid/lymphoid neoplasms associated with eosinophilia and abnormality of PDGFRA, PDGFRB, FGFR1 or JAK2 myeloid hemopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015524 MONDO:0004335 True hyperplastic polyposis syndrome digestive system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015528 MONDO:0006499 True congenital epulis hamartoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015530 MONDO:0043218 True trigeminal autonomic cephalalgia neurovascular disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015538 MONDO:0006247 True indeterminate dendritic cell tumor histiocytic and dendritic cell neoplasm UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015540 MONDO:0002254 True hemophagocytic syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0015542 MONDO:0015540 True secondary hemophagocytic lymphohistiocytosis hemophagocytic syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015564 MONDO:0016537 True Castleman disease lymphoproliferative syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0015573 MONDO:0005282 True subacute cutaneous lupus erythematosus cutaneous lupus erythematosus UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015597 MONDO:0002406 True pustulosis palmaris et plantaris dermatitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0015601 MONDO:0020119 True X-linked intellectual disability, van Esch type X-linked syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0015635 MONDO:0024482 True porokeratotic eccrine ostial and dermal duct nevus eccrine sweat gland hamartoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015663 MONDO:0002254 True diencephalic syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015667 MONDO:0018874 True acute myeloid leukemia by FAB classification acute myeloid leukemia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015681 MONDO:0000594 True childhood disintegrative disorder pervasive developmental disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0015687 MONDO:0001014 True chronic eosinophilic leukemia chronic leukemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0015687 MONDO:0020076 True chronic eosinophilic leukemia myeloproliferative neoplasm UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0015688 MONDO:0044881 True myeloid/lymphoid neoplasms associated with eosinophilia and abnormality of PDGFRA, PDGFRB, FGFR1 or JAK2 hematopoietic and lymphoid cell neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015689 MONDO:0015688 True myeloid neoplasm associated with PDGFRA rearrangement myeloid/lymphoid neoplasms associated with eosinophilia and abnormality of PDGFRA, PDGFRB, FGFR1 or JAK2 UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0015690 MONDO:0015688 True myeloid neoplasm associated with PDGFRB rearrangement myeloid/lymphoid neoplasms associated with eosinophilia and abnormality of PDGFRA, PDGFRB, FGFR1 or JAK2 UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0015691 MONDO:0016345 True hypereosinophilic syndrome non-familial restrictive cardiomyopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015692 MONDO:0018881 True refractory anemia with excess blasts in transformation myelodysplastic syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015696 MONDO:0017769 True Good syndrome acquired immunodeficiency UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015697 MONDO:0003778 True immunoglobulin heavy chain deficiency inborn error of immunity UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015698 MONDO:0003827 True transient hypogammaglobulinemia of infancy transient hypogammaglobulinemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0015699 MONDO:0003832 True immunodeficiency due to a classical component pathway complement deficiency complement deficiency UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015700 MONDO:0003832 True immunodeficiency due to a late component of complement deficiency complement deficiency UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015701 MONDO:0044200 True T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiency T-B+ severe combined immunodeficiency UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015702 MONDO:0044200 True T-B+ severe combined immunodeficiency due to CD45 deficiency T-B+ severe combined immunodeficiency UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015703 MONDO:0044200 True T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta T-B+ severe combined immunodeficiency UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015704 MONDO:0015338 True familial scaphocephaly syndrome syndromic craniosynostosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015705 MONDO:0018947 True autosomal recessive centronuclear myopathy centronuclear myopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0015708 MONDO:0003778 True immuno-osseous dysplasia inborn error of immunity UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015712 MONDO:0016961 True non-distal trisomy 10q partial duplication of the long arm of chromosome 10 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015715 MONDO:0010604 True severe hemophilia B hemophilia B UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015716 MONDO:0010604 True moderately severe hemophilia B hemophilia B UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015717 MONDO:0010604 True mild hemophilia B hemophilia B UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015719 MONDO:0010602 True severe hemophilia A hemophilia A UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015720 MONDO:0010602 True moderately severe hemophilia A hemophilia A UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015721 MONDO:0010602 True mild hemophilia A hemophilia A UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015722 MONDO:0021181 True congenital vitamin K-dependent coagulation factors deficiency inherited blood coagulation disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015723 MONDO:0016933 True trisomy 12p partial trisomy/tetrasomy of the short arm of chromosome 12 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015724 MONDO:0022177 True non-distal trisomy 13q chromosome 13q trisomy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015726 MONDO:0016964 True distal trisomy 14q partial duplication of the long arm of chromosome 14 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015728 MONDO:0017806 True distal trisomy 15q 15q overgrowth syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015735 MONDO:0016193 True severe congenital nemaline myopathy qualitative or quantitative defects of alpha-actin UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015735 MONDO:0016194 True severe congenital nemaline myopathy qualitative or quantitative defects of nebulin UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015735 MONDO:0018958 True severe congenital nemaline myopathy nemaline myopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015736 MONDO:0016193 True intermediate nemaline myopathy qualitative or quantitative defects of alpha-actin UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015736 MONDO:0016194 True intermediate nemaline myopathy qualitative or quantitative defects of nebulin UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015736 MONDO:0017303 True intermediate nemaline myopathy qualitative or quantitative defects of tropomyosin UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015737 MONDO:0016193 True typical nemaline myopathy qualitative or quantitative defects of alpha-actin UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015737 MONDO:0016194 True typical nemaline myopathy qualitative or quantitative defects of nebulin UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015737 MONDO:0017303 True typical nemaline myopathy qualitative or quantitative defects of tropomyosin UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015737 MONDO:0018958 True typical nemaline myopathy nemaline myopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015738 MONDO:0016193 True childhood-onset nemaline myopathy qualitative or quantitative defects of alpha-actin UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015738 MONDO:0016194 True childhood-onset nemaline myopathy qualitative or quantitative defects of nebulin UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015738 MONDO:0017303 True childhood-onset nemaline myopathy qualitative or quantitative defects of tropomyosin UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015738 MONDO:0018958 True childhood-onset nemaline myopathy nemaline myopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015739 MONDO:0016193 True adult-onset nemaline myopathy qualitative or quantitative defects of alpha-actin UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015739 MONDO:0016194 True adult-onset nemaline myopathy qualitative or quantitative defects of nebulin UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015739 MONDO:0018958 True adult-onset nemaline myopathy nemaline myopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015740 MONDO:0016951 True trisomy 18p partial trisomy/tetrasomy of the short arm of chromosome 18 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015741 MONDO:0016968 True distal trisomy 18q partial trisomy of the long arm of chromosome 18 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015742 MONDO:0006741 True periventricular leukomalacia encephalomalacia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0015744 MONDO:0016969 True distal trisomy 19q partial duplication of the long arm of chromosome 19 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015746 MONDO:0018394 True male infertility due to globozoospermia male infertility with teratozoospermia due to single gene mutation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015749 MONDO:0016905 True 6q16 deletion syndrome partial deletion of the long arm of chromosome 6 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015749 MONDO:0018354 True 6q16 deletion syndrome Prader-Willi-like syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015751 MONDO:0015338 True craniosynostosis-hydrocephalus-Arnold-Chiari malformation type I-radioulnar synostosis syndrome syndromic craniosynostosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015755 MONDO:0019952 True myopathy with hexagonally cross-linked tubular arrays congenital myopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015756 MONDO:0005570 True myeloid hemopathy hematologic disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015758 MONDO:0015760 True primary cutaneous T-cell lymphoma T-cell non-Hodgkin lymphoma UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015758 MONDO:0018898 True primary cutaneous T-cell lymphoma primary cutaneous lymphoma UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015689 MONDO:0015688 True myeloid neoplasm associated with PDGFRA rearrangement myeloid/lymphoid neoplasms associated with eosinophilia and abnormality of PDGFRA, PDGFRB, FGFR1 or JAK2 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0015690 MONDO:0015688 True myeloid neoplasm associated with PDGFRB rearrangement myeloid/lymphoid neoplasms associated with eosinophilia and abnormality of PDGFRA, PDGFRB, FGFR1 or JAK2 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0015691 MONDO:0002254 True hypereosinophilic syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0015698 MONDO:0003827 True transient hypogammaglobulinemia of infancy transient hypogammaglobulinemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0015742 MONDO:0006741 True periventricular leukomalacia encephalomalacia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0015759 MONDO:0004095 True B-cell non-Hodgkin lymphoma B-cell neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015759 MONDO:0018908 True B-cell non-Hodgkin lymphoma non-Hodgkin lymphoma UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015760 MONDO:0018908 True T-cell non-Hodgkin lymphoma non-Hodgkin lymphoma UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0015761 MONDO:0016947 True trisomy 10p partial duplication of the short arm of chromosome 10 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015762 MONDO:0017290 True progressive familial intrahepatic cholestasis familial intrahepatic cholestasis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015762 MONDO:0017755 True progressive familial intrahepatic cholestasis inborn disorder of bilirubin metabolism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015766 MONDO:0000314 True cholera primary bacterial infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0015767 MONDO:0016941 True trisomy 4p partial duplication of the short arm of chromosome 4 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015768 MONDO:0016942 True trisomy 5p partial trisomy/tetrasomy of the short arm of chromosome 5 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015768 MONDO:0019716 True trisomy 5p overgrowth syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015769 MONDO:0016943 True distal trisomy 6p partial duplication of the short arm of chromosome 6 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015770 MONDO:0019824 True congenital hypogonadotropic hypogonadism non-acquired pituitary hormone deficiency UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015772 MONDO:0016959 True trisomy 8q partial duplication of the long arm of chromosome 8 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015773 MONDO:0019054 True fibular dimelia-diplopodia syndrome congenital limb malformation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015775 MONDO:0019701 True non-rhizomelic chondrodysplasia punctata chondrodysplasia punctata UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015776 MONDO:0017986 True rhizomelic chondrodysplasia punctata disorder of plasmalogens biosynthesis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015776 MONDO:0019701 True rhizomelic chondrodysplasia punctata chondrodysplasia punctata UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0015779 MONDO:0001967 True 45,X/46,XY mixed gonadal dysgenesis gonadal dysgenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0015779 MONDO:0017975 True 45,X/46,XY mixed gonadal dysgenesis sex chromosome disorder of sex development UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015780 MONDO:0015356 True dyskeratosis congenita hereditary neoplastic syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015780 MONDO:0019287 True dyskeratosis congenita ectodermal dysplasia syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS -MONDO:0015781 MONDO:0015159 True facial dysmorphism-shawl scrotum-joint laxity syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015783 MONDO:0020301 True Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 Prader-Willi syndrome due to paternal 15q11q13 deletion UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015784 MONDO:0020301 True Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 Prader-Willi syndrome due to paternal 15q11q13 deletion UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015785 MONDO:0008300 True Prader-Willi syndrome due to translocation Prader-Willi syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015786 MONDO:0008300 True Prader-Willi syndrome due to imprinting mutation Prader-Willi syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015787 MONDO:0010602 True symptomatic form of hemophilia A in female carriers hemophilia A UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015788 MONDO:0010604 True symptomatic form of hemophilia B in female carriers hemophilia B UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015790 MONDO:0015127 True central diabetes insipidus pituitary deficiency UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015791 MONDO:0000088 True peripheral precocious puberty precocious puberty UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015792 MONDO:0018612 True transient congenital hypothyroidism congenital hypothyroidism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015793 MONDO:0018948 True moderate multiminicore disease with hand involvement multiminicore myopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015794 MONDO:0018948 True antenatal multiminicore disease with arthrogryposis multiplex congenita multiminicore myopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015797 MONDO:0006025 True UV-sensitive syndrome autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0015797 MONDO:0015951 True UV-sensitive syndrome hereditary photodermatosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015759 MONDO:0018908 True B-cell non-Hodgkin lymphoma non-Hodgkin lymphoma UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015760 MONDO:0018908 True T-cell non-Hodgkin lymphoma non-Hodgkin lymphoma UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0015762 MONDO:0002254 True progressive familial intrahepatic cholestasis syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0015770 MONDO:0018555 True congenital hypogonadotropic hypogonadism hypogonadotropic hypogonadism UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015776 MONDO:0019701 True rhizomelic chondrodysplasia punctata chondrodysplasia punctata UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0015779 MONDO:0001967 True 45,X/46,XY mixed gonadal dysgenesis gonadal dysgenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0015798 MONDO:0006424 True inflammatory myofibroblastic tumor soft tissue neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015800 MONDO:0015338 True osteosclerosis-developmental delay-craniosynostosis syndrome syndromic craniosynostosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015803 MONDO:0016468 True wound botulism toxin-mediated infectious botulism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015804 MONDO:0015805 True infant botulism intestinal botulism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0015805 MONDO:0016468 True intestinal botulism toxin-mediated infectious botulism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015806 MONDO:0015805 True adult intestinal botulism intestinal botulism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015808 MONDO:0045071 True folliculotropic mycosis fungoides mycosis fungoides variant UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015809 MONDO:0045071 True localized pagetoid reticulosis mycosis fungoides variant UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015810 MONDO:0015816 True primary cutaneous CD4+ small/medium-sized pleomorphic T-cell lymphoma indolent primary cutaneous T-cell lymphoma UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015811 MONDO:0015758 True primary cutaneous aggressive epidermotropic CD8+ T-cell lymphoma primary cutaneous T-cell lymphoma UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015812 MONDO:0015758 True primary cutaneous gamma/delta-positive T-cell lymphoma primary cutaneous T-cell lymphoma UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015813 MONDO:0015819 True primary cutaneous marginal zone B-cell lymphoma indolent primary cutaneous B-cell lymphoma UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015814 MONDO:0015819 True primary cutaneous follicle center lymphoma indolent primary cutaneous B-cell lymphoma UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015816 MONDO:0015758 True indolent primary cutaneous T-cell lymphoma primary cutaneous T-cell lymphoma UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015819 MONDO:0015820 True indolent primary cutaneous B-cell lymphoma primary cutaneous B-cell lymphoma UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015819 MONDO:0017594 True indolent primary cutaneous B-cell lymphoma indolent B-cell non-Hodgkin lymphoma UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015820 MONDO:0018898 True primary cutaneous B-cell lymphoma primary cutaneous lymphoma UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015821 MONDO:0015816 True mycosis fungoides and variants indolent primary cutaneous T-cell lymphoma UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015824 MONDO:0018234 True oculomaxillofacial dysostosis dysostosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015830 MONDO:0019128 True partial bilateral aplasia of the mullerian ducts mullerian aplasia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015831 MONDO:0019128 True unilateral aplasia of the mullerian ducts mullerian aplasia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015832 MONDO:0015831 True true unicornuate uterus unilateral aplasia of the mullerian ducts UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015833 MONDO:0015831 True pseudounicornuate uterus unilateral aplasia of the mullerian ducts UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015834 MONDO:0015842 True didelphys uterus bicornuate uterus UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015835 MONDO:0015834 True Bicervical bicornuate uterus and blind hemivagina didelphys uterus UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015836 MONDO:0015834 True Bicervical bicornuate uterus with patent cervix and vagina didelphys uterus UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015840 MONDO:0015839 True complete septate uterus septate uterus UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015841 MONDO:0015839 True partial septate uterus septate uterus UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015850 MONDO:0021147 True transverse vaginal septum disorder of development or morphogenesis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015864 MONDO:0006290 True mixed germ cell tumor malignant germ cell tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015867 MONDO:0001402 True vaginal carcinoma vaginal cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0015867 MONDO:0004993 True vaginal carcinoma carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0015871 MONDO:0000620 True benign breast phyllodes tumor breast benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0015867 MONDO:0001402 True vaginal carcinoma vaginal cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0015867 MONDO:0004993 True vaginal carcinoma carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0015871 MONDO:0000620 True benign breast phyllodes tumor breast benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0015871 MONDO:0021047 True benign breast phyllodes tumor breast phyllodes tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015871 MONDO:0037002 True benign breast phyllodes tumor benign phyllodes tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015873 MONDO:0002648 True Paget disease of the nipple mammary Paget disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015873 MONDO:0003950 True Paget disease of the nipple nipple carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015883 MONDO:0019287 True hidrotic ectodermal dysplasia, Halal type ectodermal dysplasia syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015884 MONDO:0016535 True autosomal dominant hypohidrotic ectodermal dysplasia hypohidrotic ectodermal dysplasia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015892 MONDO:0015514 True growth hormone insensitivity syndrome hereditary endocrine growth disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015905 MONDO:0002525 True syndromic dyslipidemia inherited lipid metabolism disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015908 MONDO:0000255 True chromomycosis subcutaneous mycosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0015909 MONDO:0002280 True aplastic anemia anemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0015912 MONDO:0000009 True macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss inherited bleeding disorder, platelet-type UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0015912 MONDO:0018795 True macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss syndromic constitutional thrombocytopenia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015925 MONDO:0005275 True interstitial lung disease lung disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0015926 MONDO:0015925 True pneumoconiosis interstitial lung disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0015929 MONDO:0020001 True thoracic malformation respiratory or thoracic malformation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015941 MONDO:0015159 True epiphyseal dysplasia-hearing loss-dysmorphism syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015942 MONDO:0018233 True frontometaphyseal dysplasia otopalatodigital syndrome spectrum disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0015947 MONDO:0019269 True inherited ichthyosis ichthyosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015974 MONDO:0015131 True severe combined immunodeficiency combined immunodeficiency UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0015977 MONDO:0002211 True agammaglobulinemia B cell deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0015986 MONDO:0018470 True bilateral renal agenesis renal agenesis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0015987 MONDO:0020292 True scimitar syndrome congenital anomaly of the great arteries UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015990 MONDO:0015494 True focal, segmental or multifocal dystonia isolated dystonia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015991 MONDO:0004739 True citrullinemia urea cycle disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0015993 MONDO:0019118 True cone-rod dystrophy inherited retinal dystrophy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0015995 MONDO:0018230 True melorheostosis with osteopoikilosis skeletal dysplasia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015998 MONDO:0001176 True isolated ectopia lentis lens disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0015999 MONDO:0005495 True primary pigmented nodular adrenocortical disease adrenal gland disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0016001 MONDO:0019052 True 2-hydroxyglutaric aciduria inborn errors of metabolism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0016002 MONDO:0006025 True Ehlers-Danlos syndrome, kyphoscoliotic type 1 autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0016002 MONDO:0020066 True Ehlers-Danlos syndrome, kyphoscoliotic type 1 Ehlers-Danlos syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0016003 MONDO:0000314 True ehrlichiosis primary bacterial infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0016004 MONDO:0016677 True aminopterin/methotrexate embryofetopathy toxic or drug-related embryofetopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016005 MONDO:0016677 True indomethacin embryofetopathy toxic or drug-related embryofetopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016006 MONDO:0006025 True Cockayne syndrome autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0016006 MONDO:0015333 True Cockayne syndrome progeroid syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0016007 MONDO:0016677 True cocaine embryofetopathy toxic or drug-related embryofetopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016008 MONDO:0016677 True fetal hydantoin syndrome toxic or drug-related embryofetopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016009 MONDO:0016677 True fetal trimethadione syndrome toxic or drug-related embryofetopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016010 MONDO:0016677 True vitamin K-antagonist embryofetopathy toxic or drug-related embryofetopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016011 MONDO:0000408 True fetal alcohol syndrome fetal alcohol spectrum disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0016011 MONDO:0016677 True fetal alcohol syndrome toxic or drug-related embryofetopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016012 MONDO:0016677 True diethylstilbestrol syndrome toxic or drug-related embryofetopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016013 MONDO:0016677 True fetal methylmercury syndrome toxic or drug-related embryofetopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016014 MONDO:0016677 True fetal minoxidil syndrome toxic or drug-related embryofetopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016015 MONDO:0016677 True phenobarbital embryopathy toxic or drug-related embryofetopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016016 MONDO:0016677 True toluene embryopathy toxic or drug-related embryofetopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016017 MONDO:0016677 True methimazole embryofetopathy toxic or drug-related embryofetopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016020 MONDO:0016057 True frontal encephalocele isolated encephalocele UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016022 MONDO:0000412 True early myoclonic encephalopathy neonatal period electroclinical syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0016022 MONDO:0016801 True early myoclonic encephalopathy mitochondrial substrate carrier disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016025 MONDO:0020072 True myoclonic-astatic epilepsy childhood-onset epilepsy syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016026 MONDO:0020071 True infant epilepsy with migrant focal crisis infantile epilepsy syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016027 MONDO:0000412 True benign neonatal seizures neonatal period electroclinical syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0016027 MONDO:0020070 True benign neonatal seizures neonatal epilepsy syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016029 MONDO:0016713 True esthesioneuroblastoma central nervous system Ewing sarcoma/peripheral primitive neuroectodermal tumor UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016030 MONDO:0004680 True Evans syndrome primary thrombocytopenia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0016030 MONDO:0019098 True Evans syndrome autoimmune thrombocytopenia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016030 MONDO:0020108 True Evans syndrome autoimmune hemolytic anemia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0016031 MONDO:0015161 True facial dysmorphism-anorexia-cachexia-eye and skin anomalies syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016032 MONDO:0018234 True femoral agenesis/hypoplasia dysostosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016032 MONDO:0019713 True femoral agenesis/hypoplasia non-syndromic limb reduction defect UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016033 MONDO:0002254 True Cornelia de Lange syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0016033 MONDO:0003847 True Cornelia de Lange syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0016033 MONDO:0015159 True Cornelia de Lange syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016033 MONDO:0018234 True Cornelia de Lange syndrome dysostosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0016033 MONDO:0019054 True Cornelia de Lange syndrome congenital limb malformation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016035 MONDO:0003429 True Nelson syndrome functioning pituitary gland adenoma UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0015892 MONDO:0002254 True growth hormone insensitivity syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015903 MONDO:0037748 True hyperalphalipoproteinemia hyperlipoproteinemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015909 MONDO:0002280 True aplastic anemia anemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0015912 MONDO:0000009 True macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss inherited bleeding disorder, platelet-type UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0015912 MONDO:0002254 True macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0015925 MONDO:0005275 True interstitial lung disease lung disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0015926 MONDO:0015925 True pneumoconiosis interstitial lung disease UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0015943 MONDO:0002254 True eosinophilic granulomatosis with polyangiitis syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0015967 MONDO:0005015 True monogenic diabetes diabetes mellitus UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015974 MONDO:0015131 True severe combined immunodeficiency combined immunodeficiency UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0015986 MONDO:0018470 True bilateral renal agenesis renal agenesis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0015987 MONDO:0002254 True scimitar syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015988 MONDO:0002473 True multicystic dysplastic kidney cystic kidney disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015991 MONDO:0004739 True citrullinemia urea cycle disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0015998 MONDO:0001176 True isolated ectopia lentis lens disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0015999 MONDO:0005495 True primary pigmented nodular adrenocortical disease adrenal gland disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0016001 MONDO:0019052 True 2-hydroxyglutaric aciduria inborn errors of metabolism UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0016002 MONDO:0020066 True Ehlers-Danlos syndrome, kyphoscoliotic type 1 Ehlers-Danlos syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0016002 MONDO:0023603 True Ehlers-Danlos syndrome, kyphoscoliotic type 1 hereditary disorder of connective tissue UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016008 MONDO:0002254 True fetal hydantoin syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016010 MONDO:0002254 True vitamin K-antagonist embryofetopathy syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016011 MONDO:0002254 True fetal alcohol syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0016030 MONDO:0002254 True Evans syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0016033 MONDO:0002254 True Cornelia de Lange syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0016037 MONDO:0005031 True superficial Fibromatosis fibromatosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016038 MONDO:0005167 True calcified aponeurotic fibroma fibroma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016038 MONDO:0016037 True calcified aponeurotic fibroma superficial Fibromatosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016039 MONDO:0016037 True infantile digital fibromatosis superficial Fibromatosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016042 MONDO:0019832 True late-onset isolated ACTH deficiency acquired pituitary hormone deficiency UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016044 MONDO:0021147 True cleft lip/palate disorder of development or morphogenesis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016045 MONDO:0017975 True tetragametic chimerism sex chromosome disorder of sex development UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016046 MONDO:0019054 True familial clubfoot with or without associated lower limb anomalies congenital limb malformation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016049 MONDO:0016145 True congenital myopathy, Paradas type qualitative or quantitative defects of dysferlin UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016049 MONDO:0019950 True congenital myopathy, Paradas type congenital muscular dystrophy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016051 MONDO:0015161 True cleft lip-retinopathy syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016052 MONDO:0000594 True atypical autism pervasive developmental disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0016053 MONDO:0020022 True isolated cerebellar vermis hypoplasia central nervous system malformation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016056 MONDO:0001149 True isolated congenital microcephaly microcephaly UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0016057 MONDO:0017078 True isolated encephalocele cephalocele UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016058 MONDO:0020065 True paroxysmal dystonia combined dystonia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016062 MONDO:0015411 True median cleft lip/mandibule facial cleft UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016064 MONDO:0000358 True cleft palate orofacial cleft UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0016064 MONDO:0019755 True cleft palate developmental defect during embryogenesis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016065 MONDO:0015159 True cleft palate-short stature-vertebral anomalies syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016066 MONDO:0015929 True sternal cleft thoracic malformation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016068 MONDO:0005516 True fibrochondrogenesis osteochondrodysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0016068 MONDO:0018230 True fibrochondrogenesis skeletal dysplasia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016070 MONDO:0002507 True hereditary gingival fibromatosis gingival overgrowth UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0016071 MONDO:0009229 True juvenile hyaline fibromatosis hyaline fibromatosis syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016073 MONDO:0021129 True syndromic microphthalmia microphthalmia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0016075 MONDO:0004664 True filariasis helminthiasis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0016077 MONDO:0016581 True congenital aortopulmonary window conotruncal heart malformations UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016078 MONDO:0020296 True congenital systemic arteriovenous fistula congenital arteriovenous fistula UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016081 MONDO:0015203 True coronary arterial fistulas coronary artery congenital malformation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016085 MONDO:0015161 True Cole-Carpenter syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016085 MONDO:0018230 True Cole-Carpenter syndrome skeletal dysplasia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016086 MONDO:0018381 True osteochondritis of tarsal/metatarsal bone osteochondrosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0016087 MONDO:0015161 True progressive non-infectious anterior vertebral fusion multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016087 MONDO:0018234 True progressive non-infectious anterior vertebral fusion dysostosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016088 MONDO:0019236 True hypoxanthine-guanine phosphoribosyltransferase deficiency inborn disorder of purine metabolism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016089 MONDO:0009499 True infantile Krabbe disease Krabbe disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016090 MONDO:0009499 True late-infantile/juvenile Krabbe disease Krabbe disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016091 MONDO:0009499 True adult Krabbe disease Krabbe disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016091 MONDO:0020143 True adult Krabbe disease cerebral lipidosis with dementia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016047 MONDO:0021166 True endophthalmitis inflammatory disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016047 MONDO:0043885 True endophthalmitis eye infectious disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016075 MONDO:0004664 True filariasis helminthiasis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0016085 MONDO:0002254 True Cole-Carpenter syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0016093 MONDO:0002229 True borderline epithelial tumor of ovary ovarian epithelial tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016095 MONDO:0002140 True vaginal rhabdomyosarcoma vagina sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016095 MONDO:0005212 True vaginal rhabdomyosarcoma rhabdomyosarcoma UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016096 MONDO:0003408 True malignant non-dysgerminomatous germ cell tumor of ovary ovarian primitive germ cell tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016096 MONDO:0021656 True malignant non-dysgerminomatous germ cell tumor of ovary nongerminomatous germ cell tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016097 MONDO:0016106 True symptomatic form of muscular dystrophy of Duchenne and Becker in female carriers progressive muscular dystrophy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016097 MONDO:0016333 True symptomatic form of muscular dystrophy of Duchenne and Becker in female carriers familial dilated cardiomyopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016098 MONDO:0020122 True immune-mediated necrotizing myopathy acquired idiopathic inflammatory myopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016099 MONDO:0020122 True overlap myositis acquired idiopathic inflammatory myopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016103 MONDO:0016146 True isolated asymptomatic elevation of creatine phosphokinase caveolinopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016103 MONDO:0016147 True isolated asymptomatic elevation of creatine phosphokinase qualitative or quantitative defects of dystrophin UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016105 MONDO:0020120 True acquired skeletal muscle disease skeletal muscle disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016106 MONDO:0020121 True progressive muscular dystrophy muscular dystrophy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016107 MONDO:0016106 True myotonic dystrophy progressive muscular dystrophy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016107 MONDO:0016120 True myotonic dystrophy myotonic syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016108 MONDO:0018949 True autosomal dominant distal myopathy distal myopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016120 MONDO:0020120 True myotonic syndrome skeletal muscle disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016129 MONDO:0002269 True eosinophilic gastroenteritis gastroenteritis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0016129 MONDO:0018438 True eosinophilic gastroenteritis eosinophilic gastrointestinal disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016140 MONDO:0016139 True sarcoglycanopathy qualitative or quantitative protein defects in neuromuscular diseases UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016141 MONDO:0016140 True qualitative or quantitative defects of alpha-sarcoglycan sarcoglycanopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016142 MONDO:0016140 True qualitative or quantitative defects of beta-sarcoglycan sarcoglycanopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016143 MONDO:0016140 True qualitative or quantitative defects of gamma-sarcoglycan sarcoglycanopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016144 MONDO:0016140 True qualitative or quantitative defects of delta-sarcoglycan sarcoglycanopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016145 MONDO:0016139 True qualitative or quantitative defects of dysferlin qualitative or quantitative protein defects in neuromuscular diseases UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016146 MONDO:0016139 True caveolinopathy qualitative or quantitative protein defects in neuromuscular diseases UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016147 MONDO:0016139 True qualitative or quantitative defects of dystrophin qualitative or quantitative protein defects in neuromuscular diseases UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016151 MONDO:0016139 True qualitative or quantitative defects of perlecan qualitative or quantitative protein defects in neuromuscular diseases UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016153 MONDO:0016139 True qualitative or quantitative defects of TRIM32 qualitative or quantitative protein defects in neuromuscular diseases UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016155 MONDO:0018282 True qualitative or quantitative defects of protein involved in O-glycosylation of alpha-dystroglycan qualitative or quantitative defects of alpha-dystroglycan UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016156 MONDO:0016155 True qualitative or quantitative defects of FKRP qualitative or quantitative defects of protein involved in O-glycosylation of alpha-dystroglycan UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016158 MONDO:0021107 True narcolepsy-cataplexy syndrome narcolepsy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016159 MONDO:0020047 True Gemignani syndrome autosomal recessive syndromic cerebellar ataxia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016160 MONDO:0015653 True X-linked intellectual disability-epilepsy syndrome monogenic epilepsy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016162 MONDO:0017091 True bilateral frontal polymicrogyria bilateral polymicrogyria UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016163 MONDO:0020380 True autosomal dominant cerebellar ataxia type II autosomal dominant cerebellar ataxia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0016167 MONDO:0016749 True optic pathway glioma tumor of cranial and spinal nerves UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016129 MONDO:0002269 True eosinophilic gastroenteritis gastroenteritis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0016163 MONDO:0020380 True autosomal dominant cerebellar ataxia type II autosomal dominant cerebellar ataxia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS MONDO:0016167 MONDO:0021042 True optic pathway glioma glioma UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016168 MONDO:0017953 True cryopyrin-associated periodic syndrome hereditary periodic fever syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016175 MONDO:0019755 True cutis laxa developmental defect during embryogenesis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016176 MONDO:0015923 True axonal polyneuropathy associated with IgG/IgM/IgA monoclonal gammopathy acquired peripheral neuropathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016184 MONDO:0016155 True qualitative or quantitative defects of protein O-mannosyltransferase 1 qualitative or quantitative defects of protein involved in O-glycosylation of alpha-dystroglycan UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016185 MONDO:0016155 True qualitative or quantitative defects of protein O-mannosyltransferase 2 qualitative or quantitative defects of protein involved in O-glycosylation of alpha-dystroglycan UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016186 MONDO:0016139 True qualitative or quantitative defects of myofibrillar proteins qualitative or quantitative protein defects in neuromuscular diseases UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016187 MONDO:0016186 True qualitative or quantitative defects of desmin qualitative or quantitative defects of myofibrillar proteins UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016188 MONDO:0016186 True qualitative or quantitative defects of alphaB-cristallin qualitative or quantitative defects of myofibrillar proteins UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016189 MONDO:0016186 True qualitative or quantitative defects of filamin C qualitative or quantitative defects of myofibrillar proteins UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016190 MONDO:0016186 True qualitative or quantitative defects of protein ZASP qualitative or quantitative defects of myofibrillar proteins UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016191 MONDO:0016139 True qualitative or quantitative defects of titin qualitative or quantitative protein defects in neuromuscular diseases UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016192 MONDO:0016139 True qualitative or quantitative defects of telethonin qualitative or quantitative protein defects in neuromuscular diseases UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016193 MONDO:0016139 True qualitative or quantitative defects of alpha-actin qualitative or quantitative protein defects in neuromuscular diseases UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016194 MONDO:0016139 True qualitative or quantitative defects of nebulin qualitative or quantitative protein defects in neuromuscular diseases UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016195 MONDO:0016139 True qualitative or quantitative defects of beta-myosin heavy chain (MYH7) qualitative or quantitative protein defects in neuromuscular diseases UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016197 MONDO:0016139 True qualitative or quantitative defects of selenoprotein N1 qualitative or quantitative protein defects in neuromuscular diseases UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016198 MONDO:0016139 True qualitative or quantitative defects of plectin qualitative or quantitative protein defects in neuromuscular diseases UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016199 MONDO:0016139 True qualitative or quantitative defects of protein SERCA1 qualitative or quantitative protein defects in neuromuscular diseases UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016203 MONDO:0019218 True hypercholesterolemia due to cholesterol 7alpha-hydroxylase deficiency inborn disorder of bile acid synthesis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016207 MONDO:0017634 True phacoanaphylactic uveitis non-infectious anterior uveitis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016209 MONDO:0016210 True benign familial nocturnal alternating hemiplegia of childhood alternating hemiplegia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016213 MONDO:0019289 True leukonychia totalis-acanthosis-nigricans-like lesions-abnormal hair syndrome hyperpigmentation of the skin UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016214 MONDO:0015925 True pulmonary fibrosis-hepatic hyperplasia-bone marrow hypoplasia syndrome interstitial lung disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016215 MONDO:0000396 True spastic quadriplegic cerebral palsy spastic cerebral palsy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0016216 MONDO:0007256 True adult hepatocellular carcinoma hepatocellular carcinoma UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0016218 MONDO:0000590 True Guillain-Barre syndrome autoimmune disorder of peripheral nervous system UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0016219 MONDO:0015161 True dysmorphism-pectus carinatum-joint laxity syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016222 MONDO:0006500 True spindle cell hemangioma hemangioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0016226 MONDO:0016225 True specific language disorder specific learning disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016227 MONDO:0100309 True hereditary episodic ataxia hereditary ataxia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0016216 MONDO:0007256 True adult hepatocellular carcinoma hepatocellular carcinoma UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0016218 MONDO:0002254 True Guillain-Barre syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0016222 MONDO:0006500 True spindle cell hemangioma hemangioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0016236 MONDO:0006424 True kaposiform hemangioendothelioma soft tissue neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016236 MONDO:0021121 True kaposiform hemangioendothelioma hemangioendothelioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016238 MONDO:0006209 True solitary fibrous tumor fibroblastic neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016239 MONDO:0019246 True cystinosis inborn disorder of lysosomal amino acid transport UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016240 MONDO:0018234 True hemimelia dysostosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016240 MONDO:0019713 True hemimelia non-syndromic limb reduction defect UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016241 MONDO:0001170 True alternating hemiplegia of childhood hemiplegia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0016241 MONDO:0016210 True alternating hemiplegia of childhood alternating hemiplegia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016242 MONDO:0002280 True hemoglobin C disease anemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0016242 MONDO:0019050 True hemoglobin C disease inherited hemoglobinopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0016243 MONDO:0002280 True hemoglobin E disease anemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0016243 MONDO:0019050 True hemoglobin E disease inherited hemoglobinopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0016244 MONDO:0003832 True atypical hemolytic-uremic syndrome complement deficiency UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0016244 MONDO:0019737 True atypical hemolytic-uremic syndrome thrombotic microangiopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016244 MONDO:0957097 True atypical hemolytic-uremic syndrome hereditary hemolytic uremic syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016242 MONDO:0019050 True hemoglobin C disease inherited hemoglobinopathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0016243 MONDO:0019050 True hemoglobin E disease inherited hemoglobinopathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0016244 MONDO:0002254 True atypical hemolytic-uremic syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0016255 MONDO:0021043 True uterine corpus mixed epithelial and mesenchymal neoplasm mixed neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016255 MONDO:0021254 True uterine corpus mixed epithelial and mesenchymal neoplasm corpus uteri neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016256 MONDO:0015159 True Hennekam syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016258 MONDO:0002879 True uterine corpus carcinofibroma uterine body mixed cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016259 MONDO:0002879 True carcinosarcoma of the corpus uteri uterine body mixed cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016259 MONDO:0006485 True carcinosarcoma of the corpus uteri uterine carcinosarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016260 MONDO:0005210 True uterine corpus rhabdomyosarcoma uterine corpus sarcoma UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016260 MONDO:0005210 True uterine corpus rhabdomyosarcoma uterine corpus sarcoma UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016260 MONDO:0005212 True uterine corpus rhabdomyosarcoma rhabdomyosarcoma UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016262 MONDO:0005058 True leiomyosarcoma of the corpus uteri leiomyosarcoma UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0016262 MONDO:0005210 True leiomyosarcoma of the corpus uteri uterine corpus sarcoma UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0016264 MONDO:0000588 True autoimmune hepatitis autoimmune disorder of gastrointestinal tract UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0016281 MONDO:0002145 True 46,XX ovotesticular disorder of sex development disorder of sexual differentiation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016262 MONDO:0005210 True leiomyosarcoma of the corpus uteri uterine corpus sarcoma UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0016264 MONDO:0002251 True autoimmune hepatitis hepatitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0016281 MONDO:0002145 True 46,XX ovotesticular disorder of sex development disorder of sexual differentiation UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016282 MONDO:0005212 True rhabdomyosarcoma of the cervix uteri rhabdomyosarcoma UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016282 MONDO:0016280 True rhabdomyosarcoma of the cervix uteri sarcoma of cervix uteri UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016283 MONDO:0005058 True leiomyosarcoma of the cervix uteri leiomyosarcoma UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016283 MONDO:0016280 True leiomyosarcoma of the cervix uteri sarcoma of cervix uteri UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016284 MONDO:0016280 True primitive neuroectodermal tumor of the cervix uteri sarcoma of cervix uteri UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016290 MONDO:0015159 True Hernández-Aguirre Negrete syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016291 MONDO:0015338 True craniosynostosis, Herrmann-Opitz type syndromic craniosynostosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016293 MONDO:0004587 True congenital stationary night blindness hereditary night blindness UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0016294 MONDO:0015161 True Hirschsprung disease-type D brachydactyly syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016295 MONDO:0019245 True neuronal ceroid lipofuscinosis lysosomal lipid storage disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0016295 MONDO:0024237 True neuronal ceroid lipofuscinosis inherited neurodegenerative disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016296 MONDO:0002254 True holoprosencephaly syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0016296 MONDO:0002320 True holoprosencephaly congenital nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0016296 MONDO:0015159 True holoprosencephaly multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016296 MONDO:0018762 True holoprosencephaly non-acquired combined pituitary hormone deficiency UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016299 MONDO:0020022 True holoprosencephaly-caudal dysgenesis syndrome central nervous system malformation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016301 MONDO:0000153 True congenitally corrected transposition of the great arteries transposition of the great arteries UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016302 MONDO:0019443 True isolated congenitally uncorrected transposition of the great arteries dextro-looped transposition of the great arteries UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016303 MONDO:0019443 True congenitally uncorrected transposition of the great arteries with cardiac malformation dextro-looped transposition of the great arteries UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016304 MONDO:0009319 True classic pantothenate kinase-associated neurodegeneration pantothenate kinase-associated neurodegeneration UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016305 MONDO:0009319 True atypical pantothenate kinase-associated neurodegeneration pantothenate kinase-associated neurodegeneration UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016306 MONDO:0018982 True Niemann-Pick disease type C, severe perinatal form Niemann-Pick disease type C UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016307 MONDO:0018982 True Niemann-Pick disease type C, severe early infantile neurologic onset Niemann-Pick disease type C UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016308 MONDO:0018982 True Niemann-Pick disease type C, late infantile neurologic onset Niemann-Pick disease type C UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016309 MONDO:0018982 True Niemann-Pick disease type C, juvenile neurologic onset Niemann-Pick disease type C UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016310 MONDO:0018982 True Niemann-Pick disease type C, adult neurologic onset Niemann-Pick disease type C UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016311 MONDO:0019293 True Bockenheimer syndrome skin vascular disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016315 MONDO:0010674 True mucopolysaccharidosis type 2, severe form mucopolysaccharidosis type 2 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016316 MONDO:0010674 True mucopolysaccharidosis type 2, attenuated form mucopolysaccharidosis type 2 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016319 MONDO:0015364 True congenital insensitivity to pain with hyperhidrosis hereditary sensory and autonomic neuropathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016321 MONDO:0017019 True pulmonary interstitial glycogenosis interstitial lung disease specific to infancy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016322 MONDO:0017019 True neuroendocrine cell hyperplasia of infancy interstitial lung disease specific to infancy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016330 MONDO:0005045 True non-familial hypertrophic cardiomyopathy hypertrophic cardiomyopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016331 MONDO:0009229 True infantile systemic hyalinosis hyaline fibromatosis syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016333 MONDO:0005021 True familial dilated cardiomyopathy dilated cardiomyopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016338 MONDO:0005021 True non-familial dilated cardiomyopathy dilated cardiomyopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016340 MONDO:0005201 True familial restrictive cardiomyopathy restrictive cardiomyopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016342 MONDO:0016587 True familial isolated arrhythmogenic right ventricular dysplasia arrhythmogenic right ventricular cardiomyopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016344 MONDO:0000819 True hydranencephaly anencephaly UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0016344 MONDO:0017103 True hydranencephaly encephaloclastic disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016345 MONDO:0005201 True non-familial restrictive cardiomyopathy restrictive cardiomyopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016296 MONDO:0002254 True holoprosencephaly syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0016301 MONDO:0000153 True congenitally corrected transposition of the great arteries transposition of the great arteries UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016322 MONDO:0005043 True neuroendocrine cell hyperplasia of infancy hyperplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016349 MONDO:0001150 True congenital hydrocephalus hydrocephalus UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016349 MONDO:0002320 True congenital hydrocephalus congenital nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016349 MONDO:0021147 True congenital hydrocephalus disorder of development or morphogenesis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016354 MONDO:0015951 True xeroderma pigmentosum-Cockayne syndrome complex hereditary photodermatosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016356 MONDO:0005100 True diffuse cutaneous systemic sclerosis systemic sclerosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016358 MONDO:0005100 True limited cutaneous systemic sclerosis systemic sclerosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0016359 MONDO:0005100 True limited systemic sclerosis systemic sclerosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016360 MONDO:0018795 True marcothrombocytopenia with mitral valve insufficiency syndromic constitutional thrombocytopenia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016364 MONDO:0015369 True Joubert syndrome with ocular defect Joubert syndrome and related disorders UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016364 MONDO:0020022 True Joubert syndrome with ocular defect central nervous system malformation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016365 MONDO:0016166 True familial primary hyperparathyroidism hereditary hyperparathyroidism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016368 MONDO:0010002 True Rothmund-Thomson syndrome type 1 Rothmund-Thomson syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0016369 MONDO:0010002 True Rothmund-Thomson syndrome type 2 Rothmund-Thomson syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0016371 MONDO:0016374 True combined hyperactive dysfunction syndrome of the cranial nerves cranial neuralgia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016372 MONDO:0002639 True glossopharyngeal neuralgia glossopharyngeal nerve disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0016372 MONDO:0016374 True glossopharyngeal neuralgia cranial neuralgia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016374 MONDO:0015923 True cranial neuralgia acquired peripheral neuropathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016380 MONDO:0019280 True acquired hypertrichosis lanuginosa hypertrichosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016381 MONDO:0019280 True hypertrichosis lanuginosa congenita hypertrichosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016381 MONDO:0019287 True hypertrichosis lanuginosa congenita ectodermal dysplasia syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING -MONDO:0016382 MONDO:0019268 True hereditary poikiloderma epidermal disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016356 MONDO:0005100 True diffuse cutaneous systemic sclerosis systemic sclerosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016359 MONDO:0005100 True limited systemic sclerosis systemic sclerosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016367 MONDO:0005554 True dermatomyositis rheumatic disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0016368 MONDO:0010002 True Rothmund-Thomson syndrome type 1 Rothmund-Thomson syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0016369 MONDO:0010002 True Rothmund-Thomson syndrome type 2 Rothmund-Thomson syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0016383 MONDO:0001343 True nephrogenic diabetes insipidus impaired renal function disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016383 MONDO:0004782 True nephrogenic diabetes insipidus diabetes insipidus UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0016383 MONDO:0015962 True nephrogenic diabetes insipidus inherited renal tubular disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016384 MONDO:0015770 True hypogonadotropic hypogonadism-frontoparietal alopecia syndrome congenital hypogonadotropic hypogonadism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016386 MONDO:0015770 True hypogonadotropic hypogonadism-retinitis pigmentosa syndrome congenital hypogonadotropic hypogonadism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016387 MONDO:0004069 True mitochondrial oxidative phosphorylation disorder inborn mitochondrial metabolism disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016390 MONDO:0016165 True familial hypoparathyroidism hereditary hypoparathyroidism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016391 MONDO:0015967 True neonatal diabetes mellitus monogenic diabetes UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016393 MONDO:0015770 True hyposmia-nasal and ocular hypoplasia-hypogonadotropic hypogonadism syndrome congenital hypogonadotropic hypogonadism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016394 MONDO:0015518 True sporadic infantile bilateral striatal necrosis infantile bilateral striatal necrosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016396 MONDO:0016113 True pontocerebellar hypoplasia type 1 bulbospinal muscular atrophy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016396 MONDO:0020135 True pontocerebellar hypoplasia type 1 pontocerebellar hypoplasia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0016396 MONDO:0024257 True pontocerebellar hypoplasia type 1 hereditary motor neuron disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016407 MONDO:0005240 True oligomeganephronia kidney disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0016408 MONDO:0015514 True permanent congenital hypothyroidism hereditary endocrine growth disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016408 MONDO:0018612 True permanent congenital hypothyroidism congenital hypothyroidism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016410 MONDO:0016408 True central congenital hypothyroidism permanent congenital hypothyroidism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016411 MONDO:0016410 True hypothyroidism due to deficient transcription factors involved in pituitary development or function central congenital hypothyroidism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016413 MONDO:0016555 True congenital hypothyroidism due to maternal intake of antithyroid drugs transient congenital hypothyroidism due to maternal factor UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016418 MONDO:0007803 True multiple system atrophy, cerebellar type multiple system atrophy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016383 MONDO:0004782 True nephrogenic diabetes insipidus diabetes insipidus UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0016407 MONDO:0005240 True oligomeganephronia kidney disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0016419 MONDO:0004989 True hereditary breast carcinoma breast carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016422 MONDO:0017278 True autoimmune polyendocrinopathy type 3 autoimmune polyendocrinopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016423 MONDO:0017278 True autoimmune polyendocrinopathy type 4 autoimmune polyendocrinopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016424 MONDO:0005045 True progressive sensorineural hearing loss-hypertrophic cardiomyopathy syndrome hypertrophic cardiomyopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016426 MONDO:0002312 True fusariosis opportunistic mycosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0016430 MONDO:0002562 True Balo concentric sclerosis demyelinating disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0016431 MONDO:0018993 True autosomal dominant Charcot-Marie-Tooth disease type 2M Charcot-Marie-Tooth disease type 2 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016432 MONDO:0018234 True heart-hand syndrome dysostosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016432 MONDO:0019054 True heart-hand syndrome congenital limb malformation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016433 MONDO:0015159 True dysmorphism-short stature-deafness-disorder of sex development syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016433 MONDO:0020040 True dysmorphism-short stature-deafness-disorder of sex development syndrome 46,XY disorder of sex development UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016440 MONDO:0006209 True elastofibroma dorsi fibroblastic neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016450 MONDO:0020108 True autoimmune hemolytic anemia, cold type autoimmune hemolytic anemia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016453 MONDO:0005498 True foodborne botulism botulism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0016456 MONDO:0015159 True 5q14.3 microdeletion syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016456 MONDO:0016904 True 5q14.3 microdeletion syndrome partial deletion of the long arm of chromosome 5 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016458 MONDO:0016959 True 8q12 microduplication syndrome partial duplication of the long arm of chromosome 8 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016459 MONDO:0016901 True 2q23.1 microdeletion syndrome partial deletion of the long arm of chromosome 2 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016461 MONDO:0016956 True 5q35 microduplication syndrome partial trisomy of the long arm of chromosome 5 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016462 MONDO:0015977 True isolated agammaglobulinemia agammaglobulinemia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016463 MONDO:0015977 True syndromic agammaglobulinemia agammaglobulinemia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016466 MONDO:0015926 True asbestosis pneumoconiosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0016467 MONDO:0016677 True isotretinoin syndrome toxic or drug-related embryofetopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016468 MONDO:0005498 True toxin-mediated infectious botulism botulism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016471 MONDO:0017672 True pachyonychia congenita focal palmoplantar keratoderma UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016472 MONDO:0016075 True dracunculiasis filariasis UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0016473 MONDO:0015356 True familial rhabdoid tumor hereditary neoplastic syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016474 MONDO:0004670 True drug-induced lupus erythematosus lupus erythematosus UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0016475 MONDO:0007534 True Beckwith-Wiedemann syndrome due to imprinting defect of 11p15 Beckwith-Wiedemann syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016476 MONDO:0007534 True Beckwith-Wiedemann syndrome due to CDKN1C mutation Beckwith-Wiedemann syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016477 MONDO:0007534 True Beckwith-Wiedemann syndrome due to 11p15 microdeletion Beckwith-Wiedemann syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016477 MONDO:0016893 True Beckwith-Wiedemann syndrome due to 11p15 microdeletion partial deletion of the short arm of chromosome 11 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016478 MONDO:0007534 True Beckwith-Wiedemann syndrome due to 11p15 translocation/inversion Beckwith-Wiedemann syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016479 MONDO:0008394 True silver-Russell syndrome due to 7p11.2p13 microduplication Silver-Russell syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016479 MONDO:0016944 True silver-Russell syndrome due to 7p11.2p13 microduplication partial duplication of the short arm of chromosome 7 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016480 MONDO:0008394 True silver-Russell syndrome due to an imprinting defect of 11p15 Silver-Russell syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016481 MONDO:0008394 True silver-Russell syndrome due to 11p15 microduplication Silver-Russell syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016481 MONDO:0016948 True silver-Russell syndrome due to 11p15 microduplication partial duplication of the short arm of chromosome 11 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016482 MONDO:0008394 True silver-Russell syndrome due to maternal uniparental disomy of chromosome 11 Silver-Russell syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016483 MONDO:0005291 True intracranial berry aneurysm brain aneurysm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0016484 MONDO:0019501 True Usher syndrome type 2 Usher syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0016485 MONDO:0019501 True Usher syndrome type 3 Usher syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0016489 MONDO:0017145 True delta-beta-thalassemia beta-thalassemia and related diseases UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016490 MONDO:0017145 True hemoglobin C-beta-thalassemia syndrome beta-thalassemia and related diseases UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016491 MONDO:0017145 True hemoglobin E-beta-thalassemia syndrome beta-thalassemia and related diseases UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016496 MONDO:0016218 True pharyngeal-cervical-brachial variant of Guillain-Barre syndrome Guillain-Barre syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016497 MONDO:0016218 True paraparetic variant of Guillain-Barre syndrome Guillain-Barre syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016498 MONDO:0016218 True acute pure sensory neuropathy Guillain-Barre syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016499 MONDO:0016218 True acute pandysautonomia Guillain-Barre syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016500 MONDO:0016218 True acute sensory ataxic neuropathy Guillain-Barre syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016501 MONDO:0017014 True Hermansky-Pudlak syndrome with pulmonary fibrosis interstitial lung disease specific to childhood UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016501 MONDO:0019312 True Hermansky-Pudlak syndrome with pulmonary fibrosis Hermansky-Pudlak syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016502 MONDO:0019312 True Hermansky-Pudlak syndrome without pulmonary fibrosis Hermansky-Pudlak syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016503 MONDO:0019268 True congenital erosive and vesicular dermatosis epidermal disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016453 MONDO:0005498 True foodborne botulism botulism UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0016463 MONDO:0002254 True syndromic agammaglobulinemia syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016466 MONDO:0015926 True asbestosis pneumoconiosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0016467 MONDO:0002254 True isotretinoin syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016473 MONDO:0015356 True familial rhabdoid tumor hereditary neoplastic syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016474 MONDO:0004670 True drug-induced lupus erythematosus lupus erythematosus UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0016484 MONDO:0019501 True Usher syndrome type 2 Usher syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0016485 MONDO:0019501 True Usher syndrome type 3 Usher syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0016505 MONDO:0003924 True aldosterone-producing adrenal cortex adenoma adrenal cortex adenoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016511 MONDO:0019755 True infectious embryofetopathy developmental defect during embryogenesis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016512 MONDO:0002254 True Kabuki syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0016512 MONDO:0015159 True Kabuki syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016514 MONDO:0017610 True epidermolysis bullosa simplex with anodontia/hypodontia epidermolysis bullosa simplex UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016515 MONDO:0015770 True Kallmann syndrome-heart disease syndrome congenital hypogonadotropic hypogonadism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016516 MONDO:0002254 True Kenny-Caffey syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0016516 MONDO:0018230 True Kenny-Caffey syndrome skeletal dysplasia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016527 MONDO:0002412 True glycogen storage disease due to lactate dehydrogenase deficiency disorder of glycogen metabolism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016532 MONDO:0000414 True Lennox-Gastaut syndrome childhood electroclinical syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0016532 MONDO:0020072 True Lennox-Gastaut syndrome childhood-onset epilepsy syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016533 MONDO:0007099 True apolipoprotein A-II amyloidosis familial visceral amyloidosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016534 MONDO:0019835 True infundibulo-neurohypophysitis primary hypophysitis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016535 MONDO:0019287 True hypohidrotic ectodermal dysplasia ectodermal dysplasia syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0016537 MONDO:0003778 True lymphoproliferative syndrome inborn error of immunity UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0016539 MONDO:0011669 True atypical hypotonia-cystinuria syndrome hypotonia-cystinuria syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016540 MONDO:0020115 True congenital secondary polycythemia secondary polycythemia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016541 MONDO:0020115 True acquired secondary polycythemia secondary polycythemia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016542 MONDO:0003778 True immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections syndrome inborn error of immunity UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016544 MONDO:0017287 True IgG4-related mesenteritis IgG4-related disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016547 MONDO:0007534 True Beckwith-Wiedemann syndrome due to NSD1 mutation Beckwith-Wiedemann syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016549 MONDO:0018960 True primary megaureter, adult-onset form congenital primary megaureter UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016550 MONDO:0018960 True congenital primary megaureter, obstructed form congenital primary megaureter UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016551 MONDO:0018960 True congenital primary megaureter, refluxing form congenital primary megaureter UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016552 MONDO:0018960 True congenital primary megaureter, nonrefluxing and unobstructed form congenital primary megaureter UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016553 MONDO:0015770 True isolated congenital hypogonadotropic hypogonadism congenital hypogonadotropic hypogonadism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016555 MONDO:0015792 True transient congenital hypothyroidism due to maternal factor transient congenital hypothyroidism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016556 MONDO:0015792 True transient congenital hypothyroidism due to neonatal factor transient congenital hypothyroidism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016557 MONDO:0019284 True leukonychia totalis inherited isolated nail anomaly UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016558 MONDO:0005395 True familial congenital mirror movements movement disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0016559 MONDO:0018174 True glaucoma secondary to spherophakia/ectopia lentis and megalocornea hereditary glaucoma UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016561 MONDO:0022756 True 1q44 microdeletion syndrome chromosome 1q deletion UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016562 MONDO:0020488 True progressive supranuclear palsy-pure akinesia with gait freezing syndrome atypical progressive supranuclear palsy syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016563 MONDO:0020488 True progressive supranuclear palsy-corticobasal syndrome atypical progressive supranuclear palsy syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016564 MONDO:0020488 True progressive supranuclear palsy-progressive non-fluent aphasia syndrome atypical progressive supranuclear palsy syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016566 MONDO:0016075 True loiasis filariasis SUPPORTED SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0016567 MONDO:0005071 True locked-in syndrome nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0016570 MONDO:0017207 True primary pulmonary lymphoma primary organ-specific lymphoma UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016571 MONDO:0015159 True macrocephaly-short stature-paraplegia syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016571 MONDO:0020022 True macrocephaly-short stature-paraplegia syndrome central nervous system malformation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016574 MONDO:0019288 True hypo- and hypermelanotic cutaneous macules-retarded growth-intellectual disability syndrome skin pigmentation disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016575 MONDO:0002254 True primary ciliary dyskinesia syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0016575 MONDO:0005308 True primary ciliary dyskinesia ciliopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0016576 MONDO:0018234 True split hand-foot malformation dysostosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0016581 MONDO:0019512 True conotruncal heart malformations congenital heart malformation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016582 MONDO:0019512 True congenital mitral malformation congenital heart malformation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016584 MONDO:0015161 True mandibuloacral dysplasia multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016584 MONDO:0019707 True mandibuloacral dysplasia primary osteolysis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016584 MONDO:0020087 True mandibuloacral dysplasia hereditary lipodystrophy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016586 MONDO:0007950 True systemic mastocytosis mastocytosis UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0016587 MONDO:0000591 True arrhythmogenic right ventricular cardiomyopathy intrinsic cardiomyopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0016595 MONDO:0005119 True inhalational anthrax anthrax infection UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0016596 MONDO:0015327 True hyperphosphatasia-intellectual disability syndrome developmental anomaly of metabolic origin UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016596 MONDO:0017748 True hyperphosphatasia-intellectual disability syndrome inborn disorder of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016596 MONDO:0019054 True hyperphosphatasia-intellectual disability syndrome congenital limb malformation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016598 MONDO:0016540 True autosomal recessive secondary polycythemia not associated with VHL gene congenital secondary polycythemia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016600 MONDO:0008988 True acute neonatal citrullinemia type I citrullinemia type I UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016601 MONDO:0008988 True adult-onset citrullinemia type I citrullinemia type I UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016602 MONDO:0015991 True citrin deficiency citrullinemia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016603 MONDO:0016602 True citrullinemia type II citrin deficiency UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016605 MONDO:0018570 True perinatal lethal hypophosphatasia hypophosphatasia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016607 MONDO:0018570 True odontohypophosphatasia hypophosphatasia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016609 MONDO:0020122 True inflammatory myopathy with abundant macrophages acquired idiopathic inflammatory myopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016610 MONDO:0020122 True idiopathic eosinophilic myositis acquired idiopathic inflammatory myopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016512 MONDO:0002254 True Kabuki syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0016516 MONDO:0002254 True Kenny-Caffey syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0016532 MONDO:0002254 True Lennox-Gastaut syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0016535 MONDO:0019287 True hypohidrotic ectodermal dysplasia ectodermal dysplasia syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0016566 MONDO:0016075 True loiasis filariasis SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0016575 MONDO:0002254 True primary ciliary dyskinesia syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0016580 MONDO:0005087 True congenital pulmonary airway malformation respiratory system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016586 MONDO:0007950 True systemic mastocytosis mastocytosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0016607 MONDO:0018570 True odontohypophosphatasia hypophosphatasia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016611 MONDO:0044983 True lipoblastoma benign lipomatous neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016612 MONDO:0000425 True X-linked cerebellar ataxia X-linked disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0016614 MONDO:0020044 True autosomal recessive ataxia due to PEX10 deficiency autosomal recessive metabolic cerebellar ataxia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016619 MONDO:0016535 True autosomal recessive hypohidrotic ectodermal dysplasia hypohidrotic ectodermal dysplasia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016620 MONDO:0002254 True primary hypertrophic osteoarthropathy syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0016622 MONDO:0018234 True Melhem-Fahl syndrome dysostosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016641 MONDO:0018234 True limb transversal defect-cardiac anomaly syndrome dysostosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016641 MONDO:0019054 True limb transversal defect-cardiac anomaly syndrome congenital limb malformation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016642 MONDO:0016743 True meningioma tumor of meninges UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016643 MONDO:0018234 True frontonasal dysplasia dysostosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0016644 MONDO:0019806 True logopenic progressive aphasia primary progressive aphasia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016646 MONDO:0016387 True autosomal dominant optic atrophy and peripheral neuropathy mitochondrial oxidative phosphorylation disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016646 MONDO:0020250 True autosomal dominant optic atrophy and peripheral neuropathy autosomal dominant optic atrophy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016648 MONDO:0005516 True multiple epiphyseal dysplasia osteochondrodysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0016648 MONDO:0018230 True multiple epiphyseal dysplasia skeletal dysplasia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016649 MONDO:0006025 True Warburg micro syndrome autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0016649 MONDO:0015159 True Warburg micro syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016649 MONDO:0016073 True Warburg micro syndrome syndromic microphthalmia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS -MONDO:0016649 MONDO:0018838 True Warburg micro syndrome lissencephaly spectrum disorders UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS -MONDO:0016652 MONDO:0016901 True 2q31.1 microdeletion syndrome partial deletion of the long arm of chromosome 2 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016653 MONDO:0016901 True 2q33.1 microdeletion syndrome partial deletion of the long arm of chromosome 2 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016655 MONDO:0016888 True 6p22 microdeletion syndrome partial deletion of the short arm of chromosome 6 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016656 MONDO:0016906 True 7q31 microdeletion syndrome partial deletion of the long arm of chromosome 7 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016657 MONDO:0016890 True 8p11.2 deletion syndrome partial deletion of the short arm of chromosome 8 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016658 MONDO:0016890 True 8p23.1 microdeletion syndrome partial deletion of the short arm of chromosome 8 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016659 MONDO:0016945 True 8p23.1 duplication syndrome partial duplication of the short arm of chromosome 8 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016660 MONDO:0006025 True autosomal recessive primary microcephaly autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0016660 MONDO:0016056 True autosomal recessive primary microcephaly isolated congenital microcephaly UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0016661 MONDO:0019751 True infantile onset panniculitis with uveitis and systemic granulomatosis autoinflammatory syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016662 MONDO:0019751 True idiopathic recurrent pericarditis autoinflammatory syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016664 MONDO:0018640 True drug-induced vasculitis secondary vasculitis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016668 MONDO:0019050 True sickle cell-beta-thalassemia disease syndrome inherited hemoglobinopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016670 MONDO:0019050 True sickle cell-hemoglobin d disease syndrome inherited hemoglobinopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016671 MONDO:0019050 True sickle cell-hemoglobin E disease syndrome inherited hemoglobinopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016672 MONDO:0019050 True hereditary persistence of fetal hemoglobin-sickle cell disease syndrome inherited hemoglobinopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016674 MONDO:0020040 True 46,XY partial gonadal dysgenesis 46,XY disorder of sex development UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016675 MONDO:0019942 True distal arthrogryposis type 10 distal arthrogryposis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0016676 MONDO:0017764 True recurrent infections-inflammatory syndrome due to zinc metabolism disorder syndrome disorder of zinc metabolism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016677 MONDO:0019755 True toxic or drug-related embryofetopathy developmental defect during embryogenesis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016680 MONDO:0021636 True high grade astrocytic tumor astrocytic tumor UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016621 MONDO:0007739 True juvenile Huntington disease Huntington disease UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016642 MONDO:0016743 True meningioma tumor of meninges UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016668 MONDO:0019050 True sickle cell-beta-thalassemia disease syndrome inherited hemoglobinopathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016675 MONDO:0019942 True distal arthrogryposis type 10 distal arthrogryposis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0016680 MONDO:0021636 True high grade astrocytic tumor astrocytic tumor UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016680 MONDO:0100342 True high grade astrocytic tumor malignant glioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016683 MONDO:0016680 True gliomatosis cerebri high grade astrocytic tumor UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016684 MONDO:0016680 True anaplastic astrocytoma high grade astrocytic tumor UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016684 MONDO:0016680 True anaplastic astrocytoma high grade astrocytic tumor UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016684 MONDO:0019781 True anaplastic astrocytoma astrocytoma (excluding glioblastoma) UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016684 MONDO:0020633 True anaplastic astrocytoma anaplastic cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016686 MONDO:0016685 True diffuse astrocytoma low-grade astrocytoma UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016686 MONDO:0021639 True diffuse astrocytoma grade II glioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016687 MONDO:0016686 True protoplasmic astrocytoma diffuse astrocytoma UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0016688 MONDO:0016686 True fibrillary astrocytoma diffuse astrocytoma UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0016689 MONDO:0016686 True gemistocytic astrocytoma diffuse astrocytoma UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0016690 MONDO:0016685 True pleomorphic xanthoastrocytoma low-grade astrocytoma UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016691 MONDO:0016685 True pilocytic astrocytoma low-grade astrocytoma UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016692 MONDO:0016691 True pilomyxoid astrocytoma pilocytic astrocytoma UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0016693 MONDO:0007667 True subependymal giant cell astrocytoma subependymoma UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0016693 MONDO:0016685 True subependymal giant cell astrocytoma low-grade astrocytoma UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016695 MONDO:0018744 True oligodendroglioma oligodendroglial tumor UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016687 MONDO:0016686 True protoplasmic astrocytoma diffuse astrocytoma UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0016688 MONDO:0016686 True fibrillary astrocytoma diffuse astrocytoma UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0016689 MONDO:0016686 True gemistocytic astrocytoma diffuse astrocytoma UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0016695 MONDO:0018744 True oligodendroglioma oligodendroglial tumor UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016695 MONDO:0021639 True oligodendroglioma grade II glioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016696 MONDO:0018744 True anaplastic oligodendroglioma oligodendroglial tumor UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016696 MONDO:0018744 True anaplastic oligodendroglioma oligodendroglial tumor UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016696 MONDO:0020633 True anaplastic oligodendroglioma anaplastic cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016696 MONDO:0021640 True anaplastic oligodendroglioma grade III glioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016698 MONDO:0003266 True ependymoma ependymal tumor UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016698 MONDO:0003266 True ependymoma ependymal tumor UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016698 MONDO:0021639 True ependymoma grade II glioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016699 MONDO:0003266 True myxopapillary ependymoma ependymal tumor UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016700 MONDO:0003266 True anaplastic ependymoma ependymal tumor UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016699 MONDO:0003266 True myxopapillary ependymoma ependymal tumor UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016700 MONDO:0003266 True anaplastic ependymoma ependymal tumor UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016700 MONDO:0020633 True anaplastic ependymoma anaplastic cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016700 MONDO:0021640 True anaplastic ependymoma grade III glioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016702 MONDO:0003268 True oligoastrocytoma mixed glioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0016702 MONDO:0003268 True oligoastrocytoma mixed glioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0016702 MONDO:0021639 True oligoastrocytoma grade II glioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016703 MONDO:0005853 True anaplastic oligoastrocytoma malignant mixed neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016703 MONDO:0020633 True anaplastic oligoastrocytoma anaplastic cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016703 MONDO:0021640 True anaplastic oligoastrocytoma grade III glioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016705 MONDO:0021637 True angiocentric glioma low grade glioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0016706 MONDO:0002682 True chordoid glioma of the third ventricle cerebral ventricle cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0016707 MONDO:0021042 True astroblastoma glioma UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016709 MONDO:0007959 True anaplastic/large cell medulloblastoma medulloblastoma UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016710 MONDO:0007959 True medulloblastoma with extensive nodularity medulloblastoma UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016711 MONDO:0007959 True desmoplastic/nodular medulloblastoma medulloblastoma UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016712 MONDO:0007959 True classic medulloblastoma medulloblastoma UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016705 MONDO:0021637 True angiocentric glioma low grade glioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0016706 MONDO:0002682 True chordoid glioma of the third ventricle cerebral ventricle cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0016707 MONDO:0021042 True astroblastoma glioma UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016709 MONDO:0007959 True anaplastic/large cell medulloblastoma medulloblastoma UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016710 MONDO:0007959 True medulloblastoma with extensive nodularity medulloblastoma UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016711 MONDO:0007959 True desmoplastic/nodular medulloblastoma medulloblastoma UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016712 MONDO:0007959 True classic medulloblastoma medulloblastoma UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016713 MONDO:0002714 True central nervous system Ewing sarcoma/peripheral primitive neuroectodermal tumor central nervous system cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016713 MONDO:0021038 True central nervous system Ewing sarcoma/peripheral primitive neuroectodermal tumor Ewing sarcoma/peripheral primitive neuroectodermal tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016715 MONDO:0000640 True ependymoblastoma central nervous system primitive neuroectodermal neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0016715 MONDO:0016713 True ependymoblastoma central nervous system Ewing sarcoma/peripheral primitive neuroectodermal tumor UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016717 MONDO:0021211 True choroid plexus neoplasm brain neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016718 MONDO:0002681 True choroid plexus carcinoma choroid plexus cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0016718 MONDO:0004993 True choroid plexus carcinoma carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0016719 MONDO:0015159 True microcephaly-seizures-intellectual disability-heart disease syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016722 MONDO:0003249 True pineoblastoma pineal gland cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0016718 MONDO:0002681 True choroid plexus carcinoma choroid plexus cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0016718 MONDO:0004993 True choroid plexus carcinoma carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0016722 MONDO:0003249 True pineoblastoma pineal gland cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0016722 MONDO:0005564 True pineoblastoma embryonal neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0016723 MONDO:0000627 True pineocytoma benign endocrine neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0016723 MONDO:0021451 True pineocytoma benign neoplasm of brain UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016723 MONDO:0024890 True pineocytoma pineal parenchymal cell neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016724 MONDO:0021193 True papillary tumor of the pineal region neuroepithelial neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016724 MONDO:0021232 True papillary tumor of the pineal region pineal body neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016727 MONDO:0016729 True extraventricular neurocytoma mixed neuronal-glial tumor UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016729 MONDO:0021193 True mixed neuronal-glial tumor neuroepithelial neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016730 MONDO:0016729 True gangliocytoma mixed neuronal-glial tumor UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016731 MONDO:0016729 True desmoplastic infantile astrocytoma/ganglioglioma mixed neuronal-glial tumor UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016733 MONDO:0016729 True ganglioglioma mixed neuronal-glial tumor UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016735 MONDO:0016729 True papillary glioneuronal tumor mixed neuronal-glial tumor UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016736 MONDO:0016729 True rosette-forming glioneuronal tumor of fourth ventricule mixed neuronal-glial tumor UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016739 MONDO:0005744 True yolk sac tumor of central nervous system yolk sac tumor UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016730 MONDO:0016729 True gangliocytoma mixed neuronal-glial tumor UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016733 MONDO:0016729 True ganglioglioma mixed neuronal-glial tumor UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016735 MONDO:0016729 True papillary glioneuronal tumor mixed neuronal-glial tumor UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016736 MONDO:0016729 True rosette-forming glioneuronal tumor of fourth ventricule mixed neuronal-glial tumor UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016739 MONDO:0005744 True yolk sac tumor of central nervous system yolk sac tumor UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016740 MONDO:0002714 True choriocarcinoma of the central nervous system central nervous system cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016740 MONDO:0003578 True choriocarcinoma of the central nervous system extragonadal nonseminomatous germ cell tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016740 MONDO:0005207 True choriocarcinoma of the central nervous system choriocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -13680,2318 +7939,539 @@ MONDO:0016740 MONDO:0020574 True choriocarcinoma of the central nervous system c MONDO:0016742 MONDO:0002714 True mixed germ cell tumor of central nervous system central nervous system cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016742 MONDO:0003000 True mixed germ cell tumor of central nervous system central nervous system germ cell tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016743 MONDO:0006130 True tumor of meninges central nervous system neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016745 MONDO:0016743 True diffuse leptomeningeal melanocytosis tumor of meninges UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016746 MONDO:0003222 True meningeal melanocytoma central nervous system melanocytic neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0016747 MONDO:0003222 True primary melanoma of the central nervous system central nervous system melanocytic neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016747 MONDO:0006320 True primary melanoma of the central nervous system non-cutaneous melanoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016750 MONDO:0015159 True microcephaly-cleft palate syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016751 MONDO:0021089 True malignant perineurioma peripheral nervous system cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016752 MONDO:0016749 True benign peripheral nerve sheath tumor tumor of cranial and spinal nerves UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016755 MONDO:0002547 True neurofibroma nerve sheath neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0016755 MONDO:0016752 True neurofibroma benign peripheral nerve sheath tumor UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016757 MONDO:0017827 True malignant triton tumor malignant peripheral nerve sheath tumor UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0016759 MONDO:0016113 True pontocerebellar hypoplasia type 2 bulbospinal muscular atrophy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016759 MONDO:0020135 True pontocerebellar hypoplasia type 2 pontocerebellar hypoplasia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0016759 MONDO:0024257 True pontocerebellar hypoplasia type 2 hereditary motor neuron disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016760 MONDO:0015159 True microcephaly-microcornea syndrome, Seemanova type multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016761 MONDO:0005516 True spondyloepiphyseal dysplasia osteochondrodysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0016763 MONDO:0018230 True spondylometaphyseal dysplasia skeletal dysplasia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016765 MONDO:0016897 True 19p13.12 microdeletion syndrome partial deletion of the short arm of chromosome 19 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016776 MONDO:0004907 True frontal fibrosing alopecia alopecia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016777 MONDO:0005498 True inhalational botulism botulism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016778 MONDO:0005498 True iatrogenic botulism botulism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016779 MONDO:0015159 True multiple congenital anomalies due to 14q32.2 maternally expressed gene defect multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016780 MONDO:0014541 True paternal 14q32.2 microdeletion syndrome motor developmental delay due to 14q32.2 paternally expressed gene defect UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016780 MONDO:0016912 True paternal 14q32.2 microdeletion syndrome partial deletion of the long arm of chromosome 14 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016781 MONDO:0016779 True maternal 14q32.2 microdeletion syndrome multiple congenital anomalies due to 14q32.2 maternally expressed gene defect UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016782 MONDO:0014541 True paternal 14q32.2 hypomethylation syndrome motor developmental delay due to 14q32.2 paternally expressed gene defect UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016783 MONDO:0016779 True maternal 14q32.2 hypermethylation syndrome multiple congenital anomalies due to 14q32.2 maternally expressed gene defect UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016785 MONDO:0006248 True complete hydatidiform mole hydatidiform mole UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016786 MONDO:0006248 True partial hydatidiform mole hydatidiform mole UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016787 MONDO:0018944 True epithelioid trophoblastic tumor gestational trophoblastic neoplasm UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0016789 MONDO:0019243 True pyruvate metabolism disorder inborn disorder of energy metabolism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016790 MONDO:0019243 True tricarboxylic acid cycle disorder inborn disorder of energy metabolism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016796 MONDO:0018158 True mitochondrial DNA depletion syndrome, encephalomyopathic form mitochondrial DNA depletion syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016798 MONDO:0016387 True ataxia neuropathy spectrum mitochondrial oxidative phosphorylation disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016800 MONDO:0004069 True mitochondrial membrane transport disorder inborn mitochondrial metabolism disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016801 MONDO:0016800 True mitochondrial substrate carrier disorder mitochondrial membrane transport disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016802 MONDO:0016800 True mitochondrial protein import disorder mitochondrial membrane transport disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016806 MONDO:0016387 True maternally-inherited mitochondrial dystonia mitochondrial oxidative phosphorylation disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016810 MONDO:0005181 True autosomal recessive progressive external ophthalmoplegia progressive external ophthalmoplegia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016817 MONDO:0002254 True Meier-Gorlin syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0016819 MONDO:0015770 True Moebius syndrome-axonal neuropathy-hypogonadotropic hypogonadism syndrome congenital hypogonadotropic hypogonadism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016820 MONDO:0006693 True Moyamoya disease cerebral arterial disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0016823 MONDO:0005550 True mycetoma infectious disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016755 MONDO:0002547 True neurofibroma nerve sheath neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0016757 MONDO:0017827 True malignant triton tumor malignant peripheral nerve sheath tumor UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0016773 MONDO:0006572 True atrophic lichen planus lichen planus UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016778 MONDO:0005498 True iatrogenic botulism botulism UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016785 MONDO:0006248 True complete hydatidiform mole hydatidiform mole UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016786 MONDO:0006248 True partial hydatidiform mole hydatidiform mole UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016787 MONDO:0018944 True epithelioid trophoblastic tumor gestational trophoblastic neoplasm UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0016812 MONDO:0005071 True dopa-responsive dystonia nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016823 MONDO:0005550 True mycetoma infectious disease SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016824 MONDO:0003342 True infantile myofibromatosis benign perivascular tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0016825 MONDO:0009637 True mitochondrial myopathy-lactic acidosis-deafness syndrome inborn mitochondrial myopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016826 MONDO:0016624 True methylmalonic aciduria and homocystinuria inherited deficiency anemia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016826 MONDO:0019215 True methylmalonic aciduria and homocystinuria classic organic aciduria UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016826 MONDO:0019220 True methylmalonic aciduria and homocystinuria inborn disorder of cobalamin metabolism and transport UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016828 MONDO:0020099 True autosomal recessive sideroblastic anemia inherited sideroblastic anemia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016830 MONDO:0016106 True Emery-Dreifuss muscular dystrophy progressive muscular dystrophy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016830 MONDO:0016333 True Emery-Dreifuss muscular dystrophy familial dilated cardiomyopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING -MONDO:0016833 MONDO:0016912 True 14q12 microdeletion syndrome partial deletion of the long arm of chromosome 14 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016834 MONDO:0016949 True 16p11.2p12.2 microduplication syndrome partial duplication of the short arm of chromosome 16 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016835 MONDO:0016964 True 14q11.2 microduplication syndrome partial duplication of the long arm of chromosome 14 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016836 MONDO:0016894 True 16p13.11 microdeletion syndrome partial deletion of the short arm of chromosome 16 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016837 MONDO:0016949 True 16p13.11 microduplication syndrome partial duplication of the short arm of chromosome 16 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016838 MONDO:0016914 True 16q24.3 microdeletion syndrome partial deletion of the long arm of chromosome 16 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016839 MONDO:0022754 True distal 17p13.3 microdeletion syndrome chromosome 17p deletion UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016840 MONDO:0016950 True trisomy 17p partial duplication of the short arm of chromosome 17 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016841 MONDO:0016898 True 20p12.3 microdeletion syndrome partial monosomy of the short arm of chromosome 20 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016842 MONDO:0016918 True paternal 20q13.2q13.3 microdeletion syndrome partial deletion of the long arm of chromosome 20 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016843 MONDO:0016918 True 20q13.33 microdeletion syndrome partial deletion of the long arm of chromosome 20 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016844 MONDO:0016938 True trisomy 20p partial trisomy of chromosome 20 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016845 MONDO:0016919 True 21q22.11q22.12 microdeletion syndrome partial deletion of the long arm of chromosome 21 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016847 MONDO:0016952 True trisomy 1q partial duplication of the long arm of chromosome 1 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016850 MONDO:0017004 True atypical Norrie disease due to monosomy Xp11.3 partial monosomy of the short arm of chromosome X UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016855 MONDO:0009341 True Mowat-Wilson syndrome due to monosomy 2q22 Mowat-Wilson syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016855 MONDO:0016901 True Mowat-Wilson syndrome due to monosomy 2q22 partial deletion of the long arm of chromosome 2 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016856 MONDO:0009341 True Mowat-Wilson syndrome due to a ZEB2 point mutation Mowat-Wilson syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016860 MONDO:0016904 True familial adenomatous polyposis due to 5q22.2 microdeletion partial deletion of the long arm of chromosome 5 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016860 MONDO:0021055 True familial adenomatous polyposis due to 5q22.2 microdeletion classic familial adenomatous polyposis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016861 MONDO:0007318 True Alagille syndrome due to 20p12 microdeletion Alagille syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016861 MONDO:0016898 True Alagille syndrome due to 20p12 microdeletion partial monosomy of the short arm of chromosome 20 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016862 MONDO:0007318 True Alagille syndrome due to a JAG1 point mutation Alagille syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0016863 MONDO:0011812 True Okihiro syndrome due to 20q13 microdeletion Duane-radial ray syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016863 MONDO:0016918 True Okihiro syndrome due to 20q13 microdeletion partial deletion of the long arm of chromosome 20 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016864 MONDO:0011812 True Okihiro syndrome due to a point mutation Duane-radial ray syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016865 MONDO:0012455 True Kleefstra syndrome due to a point mutation Kleefstra syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016877 MONDO:0017277 True partial deletion of the long arm of chromosome 12 partial deletion of chromosome 12 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016883 MONDO:0016866 True partial deletion of the short arm of chromosome 1 partial deletion of chromosome 1 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016884 MONDO:0016867 True partial deletion of the short arm of chromosome 2 partial deletion of chromosome 2 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016885 MONDO:0016868 True partial deletion of the short arm of chromosome 3 partial deletion of chromosome 3 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016887 MONDO:0016870 True partial deletion of the short arm of chromosome 5 partial deletion of chromosome 5 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016888 MONDO:0016871 True partial deletion of the short arm of chromosome 6 partial deletion of chromosome 6 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016889 MONDO:0016872 True partial deletion of the short arm of chromosome 7 partial deletion of chromosome 7 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016890 MONDO:0016873 True partial deletion of the short arm of chromosome 8 partial deletion of chromosome 8 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016892 MONDO:0016875 True partial deletion of the short arm of chromosome 10 partial deletion of chromosome 10 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016893 MONDO:0016876 True partial deletion of the short arm of chromosome 11 partial deletion of chromosome 11 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016894 MONDO:0016878 True partial deletion of the short arm of chromosome 16 partial deletion of chromosome 16 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016897 MONDO:0016881 True partial deletion of the short arm of chromosome 19 partial deletion of chromosome 19 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016898 MONDO:0016882 True partial monosomy of the short arm of chromosome 20 partial deletion of chromosome 20 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016901 MONDO:0016867 True partial deletion of the long arm of chromosome 2 partial deletion of chromosome 2 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016902 MONDO:0016868 True partial deletion of the long arm of chromosome 3 partial deletion of chromosome 3 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016903 MONDO:0016869 True partial deletion of the long arm of chromosome 4 partial deletion of chromosome 4 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016904 MONDO:0016870 True partial deletion of the long arm of chromosome 5 partial deletion of chromosome 5 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016905 MONDO:0016871 True partial deletion of the long arm of chromosome 6 partial deletion of chromosome 6 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016906 MONDO:0016872 True partial deletion of the long arm of chromosome 7 partial deletion of chromosome 7 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016907 MONDO:0016873 True partial deletion of the long arm of chromosome 8 partial deletion of chromosome 8 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016908 MONDO:0016874 True partial monosomy of the long arm of chromosome 9 partial deletion of chromosome 9 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016909 MONDO:0016875 True partial monosomy of the long arm of chromosome 10 partial deletion of chromosome 10 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016910 MONDO:0016876 True partial deletion of the long arm of chromosome 11 partial deletion of chromosome 11 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016914 MONDO:0016878 True partial deletion of the long arm of chromosome 16 partial deletion of chromosome 16 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016915 MONDO:0016879 True partial deletion of the long arm of chromosome 17 partial deletion of chromosome 17 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016917 MONDO:0016881 True partial deletion of the long arm of chromosome 19 partial deletion of chromosome 19 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016918 MONDO:0016882 True partial deletion of the long arm of chromosome 20 partial deletion of chromosome 20 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016939 MONDO:0016922 True partial duplication of the short arm of chromosome 2 partial duplication of chromosome 2 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016940 MONDO:0016923 True partial duplication of the short arm of chromosome 3 partial duplication of chromosome 3 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016941 MONDO:0016924 True partial duplication of the short arm of chromosome 4 partial duplication of chromosome 4 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016942 MONDO:0016925 True partial trisomy/tetrasomy of the short arm of chromosome 5 partial trisomy/tetrasomy of chromosome 5 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016943 MONDO:0016927 True partial duplication of the short arm of chromosome 6 partial duplication of chromosome 6 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016944 MONDO:0016928 True partial duplication of the short arm of chromosome 7 partial duplication of chromosome 7 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016945 MONDO:0016929 True partial duplication of the short arm of chromosome 8 partial duplication of chromosome 8 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016947 MONDO:0016931 True partial duplication of the short arm of chromosome 10 partial duplication of chromosome 10 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016948 MONDO:0016932 True partial duplication of the short arm of chromosome 11 partial duplication of chromosome 11 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016949 MONDO:0016934 True partial duplication of the short arm of chromosome 16 partial duplication of chromosome 16 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016950 MONDO:0016935 True partial duplication of the short arm of chromosome 17 partial duplication of chromosome 17 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016951 MONDO:0016936 True partial trisomy/tetrasomy of the short arm of chromosome 18 partial trisomy/tetrasomy of chromosome 18 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016952 MONDO:0016921 True partial duplication of the long arm of chromosome 1 partial duplication of chromosome 1 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016953 MONDO:0016922 True partial duplication of the long arm of chromosome 2 partial duplication of chromosome 2 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016954 MONDO:0016923 True partial duplication of the long arm of chromosome 3 partial duplication of chromosome 3 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016955 MONDO:0016924 True partial duplication of the long arm of chromosome 4 partial duplication of chromosome 4 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016956 MONDO:0016925 True partial trisomy of the long arm of chromosome 5 partial trisomy/tetrasomy of chromosome 5 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016957 MONDO:0016927 True partial duplication of the long arm of chromosome 6 partial duplication of chromosome 6 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016958 MONDO:0016928 True partial duplication of the long arm of chromosome 7 partial duplication of chromosome 7 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016959 MONDO:0016929 True partial duplication of the long arm of chromosome 8 partial duplication of chromosome 8 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016960 MONDO:0016930 True partial trisomy of the long arm of chromosome 9 partial trisomy/tetrasomy of chromosome 9 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016961 MONDO:0016931 True partial duplication of the long arm of chromosome 10 partial duplication of chromosome 10 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016966 MONDO:0016934 True partial trisomy of the long arm of chromosome 16 partial duplication of chromosome 16 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016967 MONDO:0016935 True partial duplication of the long arm of chromosome 17 partial duplication of chromosome 17 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016968 MONDO:0016936 True partial trisomy of the long arm of chromosome 18 partial trisomy/tetrasomy of chromosome 18 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016969 MONDO:0016937 True partial duplication of the long arm of chromosome 19 partial duplication of chromosome 19 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016970 MONDO:0016938 True partial trisomy of the long arm of chromosome 20 partial trisomy of chromosome 20 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016971 MONDO:0016106 True limb-girdle muscular dystrophy progressive muscular dystrophy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016974 MONDO:0006456 True thymoma type B thymoma UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0016975 MONDO:0006456 True thymoma type AB thymoma UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0016976 MONDO:0020516 True well-differentiated thymic neuroendocrine carcinoma thymic neuroendocrine carcinoma UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016977 MONDO:0020516 True moderately-differentiated thymic neuroendocrine carcinoma thymic neuroendocrine carcinoma UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016978 MONDO:0020516 True poorly differentiated thymic neuroendocrine carcinoma thymic neuroendocrine carcinoma UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016979 MONDO:0019118 True MRCS syndrome inherited retinal dystrophy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016981 MONDO:0017578 True infantile spams-psychomotor retardation-progressive brain atrophy-basal ganglia disease syndrome disorder of thiamine metabolism and transport UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016982 MONDO:0002095 True angiosarcoma vascular cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0016982 MONDO:0018078 True angiosarcoma soft tissue sarcoma UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016987 MONDO:0015548 True neuroacanthocytosis Huntington disease-like syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016988 MONDO:0015624 True hyperinsulinism due to HNF4A deficiency diazoxide-sensitive diffuse hyperinsulinism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016989 MONDO:0002254 True Fuchs heterochromic iridocyclitis syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0016989 MONDO:0017634 True Fuchs heterochromic iridocyclitis non-infectious anterior uveitis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016995 MONDO:0016743 True familial multiple meningioma tumor of meninges UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017004 MONDO:0017003 True partial monosomy of the short arm of chromosome X partial deletion of chromosome X UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017007 MONDO:0017003 True partial deletion of the long arm of chromosome X partial deletion of chromosome X UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017009 MONDO:0017008 True partial duplication of the short arm of chromosome X partial duplication of chromosome X UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017010 MONDO:0017008 True partial duplication of the long arm of chromosome X partial duplication of chromosome X UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017012 MONDO:0016921 True partial duplication of the short arm of chromosome 1 partial duplication of chromosome 1 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017013 MONDO:0016945 True trisomy 8p partial duplication of the short arm of chromosome 8 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017014 MONDO:0015925 True interstitial lung disease specific to childhood interstitial lung disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017015 MONDO:0017014 True primary interstitial lung disease specific to childhood interstitial lung disease specific to childhood UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017018 MONDO:0015925 True isolated pulmonary capillaritis interstitial lung disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017019 MONDO:0017015 True interstitial lung disease specific to infancy primary interstitial lung disease specific to childhood UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016862 MONDO:0007318 True Alagille syndrome due to a JAG1 point mutation Alagille syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0016974 MONDO:0006456 True thymoma type B thymoma UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0016975 MONDO:0006456 True thymoma type AB thymoma UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0016982 MONDO:0002095 True angiosarcoma vascular cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0017025 MONDO:0018310 True Langerhans cell histiocytosis specific to childhood Langerhans cell histiocytosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017026 MONDO:0015925 True interstitial lung disease specific to adulthood interstitial lung disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017029 MONDO:0018310 True Langerhans cell histiocytosis specific to adulthood Langerhans cell histiocytosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017039 MONDO:0015925 True drug or radiation exposure-related interstitial lung disease interstitial lung disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017042 MONDO:0005516 True thanatophoric dysplasia osteochondrodysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0017042 MONDO:0019685 True thanatophoric dysplasia FGFR3-related chondrodysplasia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017043 MONDO:0005564 True congenital mesoblastic nephroma embryonal neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0017043 MONDO:0036511 True congenital mesoblastic nephroma childhood malignant kidney neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017044 MONDO:0019741 True adult familial nephronophthisis-spastic quadriparesia syndrome familial cystic renal disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017050 MONDO:0005564 True intraocular medulloepithelioma embryonal neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017050 MONDO:0021220 True intraocular medulloepithelioma eye neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017051 MONDO:0009563 True classic maple syrup urine disease maple syrup urine disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017052 MONDO:0009563 True intermediate maple syrup urine disease maple syrup urine disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017053 MONDO:0009563 True intermittent maple syrup urine disease maple syrup urine disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017054 MONDO:0009563 True thiamine-responsive maple syrup urine disease maple syrup urine disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017055 MONDO:0016677 True mycophenolate mofetil embryopathy toxic or drug-related embryofetopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017056 MONDO:0013578 True DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion DYRK1A-related intellectual disability syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017056 MONDO:0016919 True DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion partial deletion of the long arm of chromosome 21 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017058 MONDO:0018778 True autosomal recessive intermediate Charcot-Marie-Tooth disease intermediate Charcot-Marie-Tooth disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017060 MONDO:0018968 True open iniencephaly iniencephaly UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017061 MONDO:0018968 True closed iniencephaly iniencephaly UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017062 MONDO:0019351 True spina bifida aperta isolated spina bifida UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017069 MONDO:0019351 True spina bifida cystica isolated spina bifida UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017076 MONDO:0017069 True posterior meningocele spina bifida cystica UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017077 MONDO:0017069 True myelocystocele spina bifida cystica UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017079 MONDO:0017078 True meningoencephalocele cephalocele UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017080 MONDO:0016057 True occipital encephalocele isolated encephalocele UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017081 MONDO:0016057 True parietal encephalocele isolated encephalocele UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017082 MONDO:0016057 True basal encephalocele isolated encephalocele UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017086 MONDO:0018075 True primary tethered cord syndrome neural tube defect UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017087 MONDO:0018075 True neurenteric cyst neural tube defect UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017088 MONDO:0018075 True isolated amyelia neural tube defect UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017089 MONDO:0016608 True isolated megalencephaly megalencephaly UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017091 MONDO:0000087 True bilateral polymicrogyria polymicrogyria UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017092 MONDO:0000087 True unilateral polymicrogyria polymicrogyria UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017093 MONDO:0017092 True unilateral focal polymicrogyria unilateral polymicrogyria UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017095 MONDO:0019009 True isolated focal cortical dysplasia type I isolated focal cortical dysplasia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017096 MONDO:0017095 True isolated focal cortical dysplasia type Ia isolated focal cortical dysplasia type I UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017097 MONDO:0017095 True isolated focal cortical dysplasia type Ib isolated focal cortical dysplasia type I UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017098 MONDO:0017095 True isolated focal cortical dysplasia type Ic isolated focal cortical dysplasia type I UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017100 MONDO:0015134 True neutropenia-monocytopenia-deafness syndrome constitutional neutropenia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017101 MONDO:0011818 True isolated focal cortical dysplasia type IIa isolated focal cortical dysplasia type II UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017102 MONDO:0011818 True isolated focal cortical dysplasia type IIb isolated focal cortical dysplasia type II UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017105 MONDO:0020022 True glioependymal/ependymal cyst central nervous system malformation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017107 MONDO:0020022 True isolated cerebellar vermis agenesis central nervous system malformation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017108 MONDO:0017107 True isolated total cerebellar vermis agenesis isolated cerebellar vermis agenesis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017109 MONDO:0017107 True isolated partial cerebellar vermis agenesis isolated cerebellar vermis agenesis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017110 MONDO:0009072 True isolated Dandy-Walker malformation with hydrocephalus Dandy-Walker syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017111 MONDO:0009072 True isolated Dandy-Walker malformation without hydrocephalus Dandy-Walker syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017112 MONDO:0020022 True isolated unilateral hemispheric cerebellar hypoplasia central nervous system malformation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017113 MONDO:0020022 True isolated bilateral hemispheric cerebellar hypoplasia central nervous system malformation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017116 MONDO:0016349 True congenital communicating hydrocephalus congenital hydrocephalus UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017117 MONDO:0016349 True congenital non-communicating hydrocephalus congenital hydrocephalus UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017123 MONDO:0002254 True arthrogryposis-renal dysfunction-cholestasis syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0017123 MONDO:0017755 True arthrogryposis-renal dysfunction-cholestasis syndrome inborn disorder of bilirubin metabolism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017124 MONDO:0004848 True noma ulcerative stomatitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0017134 MONDO:0019287 True odonto-onycho dysplasia-alopecia syndrome ectodermal dysplasia syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017136 MONDO:0018230 True omodysplasia skeletal dysplasia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017137 MONDO:0016075 True onchocerciasis filariasis UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0017138 MONDO:0002254 True Opitz G/BBB syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0017138 MONDO:0003847 True Opitz G/BBB syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0017138 MONDO:0008537 True Opitz G/BBB syndrome telecanthus UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING -MONDO:0017138 MONDO:0015159 True Opitz G/BBB syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017139 MONDO:0015498 True oromandibular-limb hypogenesis syndrome oromandibular-limb anomalies syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017145 MONDO:0019050 True beta-thalassemia and related diseases inherited hemoglobinopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017147 MONDO:0015924 True idiopathic pulmonary arterial hypertension pulmonary arterial hypertension UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017148 MONDO:0015924 True heritable pulmonary arterial hypertension pulmonary arterial hypertension UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017149 MONDO:0015924 True drug- or toxin-induced pulmonary arterial hypertension pulmonary arterial hypertension UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017160 MONDO:0017276 True behavioral variant of frontotemporal dementia frontotemporal dementia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017161 MONDO:0015547 True frontotemporal dementia with motor neuron disease hereditary dementia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017161 MONDO:0024237 True frontotemporal dementia with motor neuron disease inherited neurodegenerative disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017162 MONDO:0018234 True imperforate oropharynx-costo vetebral anomalies syndrome dysostosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017165 MONDO:0019218 True bile acid CoA ligase deficiency and defective amidation inborn disorder of bile acid synthesis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017169 MONDO:0015079 True multiple endocrine neoplasia multiple polyglandular tumor UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017171 MONDO:0009661 True mucopolysaccharidosis type 6, rapidly progressing mucopolysaccharidosis type 6 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017172 MONDO:0009661 True mucopolysaccharidosis type 6, slowly progressing mucopolysaccharidosis type 6 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017174 MONDO:0007182 True Machado-Joseph disease type 1 Machado-Joseph disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017175 MONDO:0007182 True Machado-Joseph disease type 2 Machado-Joseph disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017176 MONDO:0007182 True Machado-Joseph disease type 3 Machado-Joseph disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017177 MONDO:0019716 True hemihyperplasia-multiple lipomatosis syndrome overgrowth syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017177 MONDO:0019755 True hemihyperplasia-multiple lipomatosis syndrome developmental defect during embryogenesis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017180 MONDO:0016961 True 10q22.3q23.3 microduplication syndrome partial duplication of the long arm of chromosome 10 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017182 MONDO:0005803 True familial hyperinsulinism hyperinsulinemic hypoglycemia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017183 MONDO:0015624 True hyperinsulinism due to UCP2 deficiency diazoxide-sensitive diffuse hyperinsulinism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017184 MONDO:0015624 True autosomal dominant hyperinsulinism due to SUR1 deficiency diazoxide-sensitive diffuse hyperinsulinism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017185 MONDO:0015624 True autosomal dominant hyperinsulinism due to Kir6.2 deficiency diazoxide-sensitive diffuse hyperinsulinism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017186 MONDO:0019010 True diazoxide-resistant hyperinsulinism congenital isolated hyperinsulinism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017187 MONDO:0019265 True diazoxide-resistant focal hyperinsulinism due to SUR1 deficiency diazoxide-resistant focal hyperinsulinism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017188 MONDO:0019265 True diazoxide-resistant focal hyperinsulinism due to Kir6.2 deficiency diazoxide-resistant focal hyperinsulinism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017189 MONDO:0017182 True adult-onset non-insulinoma persistent hyperinsulinemic hypoglycemia familial hyperinsulinism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017194 MONDO:0005516 True Blount disease osteochondrodysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0017194 MONDO:0019698 True Blount disease bent bone dysplasia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017195 MONDO:0002254 True Bruck syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0017195 MONDO:0018230 True Bruck syndrome skeletal dysplasia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017197 MONDO:0019289 True osteopathia striata-pigmentary dermopathy-white forelock syndrome hyperpigmentation of the skin UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017198 MONDO:0018230 True osteopetrosis skeletal dysplasia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017202 MONDO:0004863 True acute endophthalmitis purulent endophthalmitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0017203 MONDO:0004863 True chronic endophthalmitis purulent endophthalmitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0017205 MONDO:0017207 True primary oculocerebral lymphoma primary organ-specific lymphoma UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017207 MONDO:0005062 True primary organ-specific lymphoma lymphoma UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017209 MONDO:0001280 True infectious posterior uveitis choroiditis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017210 MONDO:0004773 True infectious anterior uveitis iridocyclitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0017211 MONDO:0017255 True infectious panuveitis panuveitis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017212 MONDO:0001280 True paraneoplastic uveitis choroiditis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017214 MONDO:0019215 True vitamin B12-responsive methylmalonic acidemia classic organic aciduria UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017214 MONDO:0019220 True vitamin B12-responsive methylmalonic acidemia inborn disorder of cobalamin metabolism and transport UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017215 MONDO:0002123 True calciphylaxis calcinosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0017216 MONDO:0017215 True calciphylaxis cutis calciphylaxis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017216 MONDO:0019293 True calciphylaxis cutis skin vascular disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017217 MONDO:0017215 True visceral calciphylaxis calciphylaxis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017220 MONDO:0016060 True laryngotracheoesophageal cleft type 0 laryngotracheoesophageal cleft UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017221 MONDO:0010714 True Pelizaeus-Merzbacher disease, connatal form Pelizaeus-Merzbacher disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017222 MONDO:0010714 True Pelizaeus-Merzbacher disease, classic form Pelizaeus-Merzbacher disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017223 MONDO:0010714 True Pelizaeus-Merzbacher disease, transitional form Pelizaeus-Merzbacher disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017224 MONDO:0010714 True Pelizaeus-Merzbacher disease in female carriers Pelizaeus-Merzbacher disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017225 MONDO:0010714 True null syndrome Pelizaeus-Merzbacher disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017226 MONDO:0019046 True Pelizaeus-Merzbacher-like disease leukodystrophy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017227 MONDO:0015175 True autoimmune pancreatitis type 1 autoimmune pancreatitis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017228 MONDO:0015175 True autoimmune pancreatitis type 2 autoimmune pancreatitis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017229 MONDO:0022174 True distal monosomy 12p chromosome 12p deletion UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017230 MONDO:0020088 True autosomal semi-dominant severe lipodystrophic laminopathy familial partial lipodystrophy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017231 MONDO:0019142 True erythropoietic uroporphyria associated with myeloid malignancy inherited porphyria UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017236 MONDO:0002462 True rapidly progressive glomerulonephritis glomerulonephritis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0017238 MONDO:0019050 True hemoglobinopathy Toms River inherited hemoglobinopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017242 MONDO:0019293 True cutaneous collagenous vasculopathy skin vascular disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017243 MONDO:0019315 True bullous diffuse cutaneous mastocytosis diffuse cutaneous mastocytosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017244 MONDO:0019315 True pseudoxanthomatous diffuse cutaneous mastocytosis diffuse cutaneous mastocytosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017245 MONDO:0017843 True intralobar congenital pulmonary sequestration congenital pulmonary sequestration UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017246 MONDO:0017843 True extralobar congenital pulmonary sequestration congenital pulmonary sequestration UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017247 MONDO:0017843 True communicating congenital bronchopulmonary-foregut malformation congenital pulmonary sequestration UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017248 MONDO:0016580 True congenital pulmonary airway malformation type 0 congenital pulmonary airway malformation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017249 MONDO:0016580 True congenital pulmonary airway malformation type 1 congenital pulmonary airway malformation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017250 MONDO:0016580 True congenital pulmonary airway malformation type 2 congenital pulmonary airway malformation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017251 MONDO:0016580 True congenital pulmonary airway malformation type 3 congenital pulmonary airway malformation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017252 MONDO:0016580 True congenital pulmonary airway malformation type 4 congenital pulmonary airway malformation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017255 MONDO:0020283 True panuveitis uveitis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0017257 MONDO:0020283 True idiopathic posterior uveitis uveitis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017258 MONDO:0017255 True idiopathic panuveitis panuveitis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017264 MONDO:0017269 True syndromic recessive X-linked ichthyosis X-linked ichthyosis syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017265 MONDO:0015947 True autosomal recessive congenital ichthyosis inherited ichthyosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017266 MONDO:0015947 True keratinopathic ichthyosis inherited ichthyosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017267 MONDO:0017265 True self-healing collodion baby autosomal recessive congenital ichthyosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017268 MONDO:0017265 True acral self-healing collodion baby autosomal recessive congenital ichthyosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017275 MONDO:0015087 True spastic paraplegia-facial-cutaneous lesions syndrome autosomal dominant complex spastic paraplegia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017276 MONDO:0015547 True frontotemporal dementia hereditary dementia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017276 MONDO:0024237 True frontotemporal dementia inherited neurodegenerative disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017278 MONDO:0000569 True autoimmune polyendocrinopathy autoimmune disorder of endocrine system UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0017278 MONDO:0015126 True autoimmune polyendocrinopathy polyendocrinopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017279 MONDO:0005180 True young-onset Parkinson disease Parkinson disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0017282 MONDO:0005738 True alveolar echinococcosis echinococcosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0017283 MONDO:0016892 True DeSanto-Shinawi Syndrome due to 10p11.21p12.31 microdeletion partial deletion of the short arm of chromosome 10 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017283 MONDO:0018760 True DeSanto-Shinawi Syndrome due to 10p11.21p12.31 microdeletion DeSanto-Shinawi syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017284 MONDO:0015159 True Xp22.13p22.2 duplication syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017284 MONDO:0017009 True Xp22.13p22.2 duplication syndrome partial duplication of the short arm of chromosome X UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017078 MONDO:0002320 True cephalocele congenital nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017079 MONDO:0001147 True meningoencephalocele meningocele UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017124 MONDO:0004848 True noma ulcerative stomatitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0017138 MONDO:0002254 True Opitz G/BBB syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0017207 MONDO:0005062 True primary organ-specific lymphoma lymphoma UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017215 MONDO:0002254 True calciphylaxis syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0017236 MONDO:0002462 True rapidly progressive glomerulonephritis glomerulonephritis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0017255 MONDO:0020283 True panuveitis uveitis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0017278 MONDO:0002254 True autoimmune polyendocrinopathy syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0017286 MONDO:0002254 True tempi syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017287 MONDO:0007179 True IgG4-related disease autoimmune disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0017289 MONDO:0011014 True fetal lung interstitial tumor pleuropulmonary blastoma UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017292 MONDO:0005061 True well-differentiated fetal adenocarcinoma of the lung lung adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017292 MONDO:0005606 True well-differentiated fetal adenocarcinoma of the lung tubular adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017295 MONDO:0018459 True glycerol kinase deficiency, juvenile form isolated glycerol kinase deficiency UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017296 MONDO:0018459 True glycerol kinase deficiency, adult form isolated glycerol kinase deficiency UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017300 MONDO:0019512 True congenital pericardium anomaly congenital heart malformation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017303 MONDO:0016139 True qualitative or quantitative defects of tropomyosin qualitative or quantitative protein defects in neuromuscular diseases UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017304 MONDO:0018134 True ocular albinism disorder of melanin metabolism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017305 MONDO:0019290 True syndromic oculocutaneous albinism hypopigmentation of the skin UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017306 MONDO:0019189 True disorder of phenylalanine metabolism inborn disorder of amino acid and other organic acid metabolism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017306 MONDO:0019235 True disorder of phenylalanine metabolism inborn disorder of phenylalanine and tyrosine metabolism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017307 MONDO:0019189 True disorder of tyrosine metabolism inborn disorder of amino acid and other organic acid metabolism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017307 MONDO:0019235 True disorder of tyrosine metabolism inborn disorder of phenylalanine and tyrosine metabolism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017312 MONDO:0006025 True Perrault syndrome autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0017312 MONDO:0016387 True Perrault syndrome mitochondrial oxidative phosphorylation disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017312 MONDO:0019852 True Perrault syndrome inherited primary ovarian failure UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING -MONDO:0017313 MONDO:0017758 True disorder of folate metabolism and transport disorder of vitamin and non-protein cofactor absorption and transport UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017314 MONDO:0020066 True Ehlers-Danlos syndrome, vascular type Ehlers-Danlos syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017315 MONDO:0015159 True short stature-webbed neck-heart disease syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017317 MONDO:0019755 True phakomatosis pigmentokeratotica developmental defect during embryogenesis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017318 MONDO:0019289 True phakomatosis pigmentovascularis hyperpigmentation of the skin UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017318 MONDO:0019755 True phakomatosis pigmentovascularis developmental defect during embryogenesis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017319 MONDO:0003664 True hereditary elliptocytosis hemolytic anemia SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0017320 MONDO:0019225 True phosphoenolpyruvate carboxykinase deficiency disorder of gluconeogenesis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017321 MONDO:0019287 True pili torti-onychodysplasia syndrome ectodermal dysplasia syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017323 MONDO:0017322 True hypocalcemic rickets disorders of vitamin D metabolism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017324 MONDO:0000044 True autosomal recessive hypophosphatemic rickets hereditary hypophosphatemic rickets UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017324 MONDO:0006025 True autosomal recessive hypophosphatemic rickets autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0017325 MONDO:0020072 True early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation childhood-onset epilepsy syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017327 MONDO:0018171 True primary non-gestational choriocarcinoma of ovary malignant germ cell tumor of ovary UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017328 MONDO:0005440 True non-central nervous system-localized embryonal carcinoma embryonal carcinoma UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017332 MONDO:0019751 True pyoderma gangrenosum-acne-suppurative hidradenitis syndrome autoinflammatory syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017334 MONDO:0016877 True 12q15q21.1 microdeletion syndrome partial deletion of the long arm of chromosome 12 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017335 MONDO:0015159 True microtriplication 11q24.1 multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017335 MONDO:0022173 True microtriplication 11q24.1 chromosome 11q trisomy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017337 MONDO:0015129 True inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency chronic primary adrenal insufficiency UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017338 MONDO:0018424 True fatal multiple mitochondrial dysfunctions syndrome inherited lipoic acid biosynthesis defect UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017339 MONDO:0017265 True exfoliative ichthyosis autosomal recessive congenital ichthyosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017314 MONDO:0020066 True Ehlers-Danlos syndrome, vascular type Ehlers-Danlos syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017319 MONDO:0003664 True hereditary elliptocytosis hemolytic anemia SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0017323 MONDO:0005520 True hypocalcemic rickets rickets UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017340 MONDO:0005586 True juvenile nasopharyngeal angiofibroma head and neck neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017342 MONDO:0017341 True Epstein-Barr virus-related tumor virus associated tumor UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017343 MONDO:0017342 True Epstein-Barr virus-associated malignant lymphoproliferative disorder Epstein-Barr virus-related tumor UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017344 MONDO:0017342 True Epstein-Barr virus-associated carcinoma Epstein-Barr virus-related tumor UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017345 MONDO:0017342 True Epstein-Barr virus-associated mesenchymal tumor Epstein-Barr virus-related tumor UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017346 MONDO:0017343 True Epstein-Barr virus-positive diffuse large B-cell lymphoma of the elderly Epstein-Barr virus-associated malignant lymphoproliferative disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017346 MONDO:0018905 True Epstein-Barr virus-positive diffuse large B-cell lymphoma of the elderly diffuse large B-cell lymphoma UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017347 MONDO:0017343 True plasmablastic lymphoma Epstein-Barr virus-associated malignant lymphoproliferative disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017347 MONDO:0018905 True plasmablastic lymphoma diffuse large B-cell lymphoma UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0017348 MONDO:0017344 True lymphoepithelial-like carcinoma Epstein-Barr virus-associated carcinoma UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017340 MONDO:0024623 True juvenile nasopharyngeal angiofibroma otorhinolaryngologic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017346 MONDO:0018905 True Epstein-Barr virus-positive diffuse large B-cell lymphoma of the elderly diffuse large B-cell lymphoma UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017347 MONDO:0018905 True plasmablastic lymphoma diffuse large B-cell lymphoma UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0017349 MONDO:0002604 True myopericytoma pericytic neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017349 MONDO:0017345 True myopericytoma Epstein-Barr virus-associated mesenchymal tumor UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017350 MONDO:0019189 True inborn disorder of tryptophan metabolism inborn disorder of amino acid and other organic acid metabolism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017352 MONDO:0019189 True disorder of glutamine metabolism inborn disorder of amino acid and other organic acid metabolism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017353 MONDO:0011612 True neonatal glycine encephalopathy glycine encephalopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017354 MONDO:0011612 True infantile glycine encephalopathy glycine encephalopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017355 MONDO:0019230 True inborn disorder of proline metabolism inborn disorder of ornithine or proline metabolism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017356 MONDO:0019230 True inborn disorder of ornithine metabolism inborn disorder of ornithine or proline metabolism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017359 MONDO:0019215 True 3-methylglutaconic aciduria classic organic aciduria UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017360 MONDO:0009612 True vitamin B12-unresponsive methylmalonic acidemia type mut0 methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017361 MONDO:0016511 True congenital rubella syndrome infectious embryofetopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017362 MONDO:0015923 True neuralgic amyotrophy acquired peripheral neuropathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017363 MONDO:0015927 True idiopathic chronic eosinophilic pneumonia idiopathic eosinophilic pneumonia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017364 MONDO:0015923 True POEMS syndrome acquired peripheral neuropathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017372 MONDO:0016511 True congenital varicella syndrome infectious embryofetopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017373 MONDO:0020129 True poliomyelitis acquired motor neuron disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017375 MONDO:0016511 True congenital enterovirus infection infectious embryofetopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017376 MONDO:0005578 True reactive arthritis arthritic joint disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0017377 MONDO:0015159 True preaxial polydactyly-colobomata-intellectual disability syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017380 MONDO:0015185 True juvenile polyposis syndrome intestinal polyposis syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017384 MONDO:0017396 True acute generalized exanthematous pustulosis toxic dermatosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017385 MONDO:0020070 True malignant migrating partial seizures of infancy neonatal epilepsy syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017386 MONDO:0005212 True pleomorphic rhabdomyosarcoma rhabdomyosarcoma UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0017387 MONDO:0018078 True epithelioid sarcoma soft tissue sarcoma UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017389 MONDO:0009861 True tetrahydrobiopterin-responsive hyperphenylalaninemia/phenylketonuria phenylketonuria UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017391 MONDO:0020212 True Grayson-Wilbrandt corneal dystrophy superficial corneal dystrophy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017392 MONDO:0020213 True pre-descemet corneal dystrophy stromal corneal dystrophy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017393 MONDO:0015159 True blepharophimosis - intellectual disability syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017395 MONDO:0017396 True fixed pigmented erythema toxic dermatosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017398 MONDO:0003847 True 3MC syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0017398 MONDO:0015159 True 3MC syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017401 MONDO:0016342 True familial isolated arrhythmogenic ventricular dysplasia, left dominant form familial isolated arrhythmogenic right ventricular dysplasia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017402 MONDO:0016342 True familial isolated arrhythmogenic ventricular dysplasia, biventricular form familial isolated arrhythmogenic right ventricular dysplasia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017403 MONDO:0016342 True familial isolated arrhythmogenic ventricular dysplasia, right dominant form familial isolated arrhythmogenic right ventricular dysplasia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017405 MONDO:0016883 True 1p21.3 microdeletion syndrome partial deletion of the short arm of chromosome 1 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017406 MONDO:0015770 True hypogonadotropic hypogonadism-severe microcephaly-sensorineural hearing loss-dysmorphism syndrome congenital hypogonadotropic hypogonadism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017407 MONDO:0018762 True deficiency in anterior pituitary function - variable immunodeficiency syndrome non-acquired combined pituitary hormone deficiency UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017409 MONDO:0016511 True fetal cytomegalovirus syndrome infectious embryofetopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017410 MONDO:0017103 True porencephaly encephaloclastic disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017411 MONDO:0019268 True neonatal inflammatory skin and bowel disease epidermal disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017411 MONDO:0019751 True neonatal inflammatory skin and bowel disease autoinflammatory syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017415 MONDO:0015225 True multiple pterygium syndrome arthrogryposis syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017416 MONDO:0017373 True postpoliomyelitis syndrome poliomyelitis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0017419 MONDO:0018234 True non-syndromic amelia dysostosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017419 MONDO:0019713 True non-syndromic amelia non-syndromic limb reduction defect UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017435 MONDO:0002254 True popliteal pterygium syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0017435 MONDO:0015225 True popliteal pterygium syndrome arthrogryposis syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017436 MONDO:0003847 True lethal congenital contracture syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0017436 MONDO:0015225 True lethal congenital contracture syndrome arthrogryposis syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017437 MONDO:0017419 True amelia of upper limb non-syndromic amelia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017438 MONDO:0017419 True amelia of lower limb non-syndromic amelia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017439 MONDO:0017419 True tetra-amelia non-syndromic amelia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017440 MONDO:0019713 True humeral agenesis/hypoplasia non-syndromic limb reduction defect UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017441 MONDO:0018234 True congenital absence of upper arm and forearm with hand present dysostosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017442 MONDO:0018234 True congenital absence of thigh and lower leg with foot present dysostosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017443 MONDO:0018234 True congenital absence of both forearm and hand dysostosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017444 MONDO:0018234 True congenital absence of both lower leg and foot dysostosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017445 MONDO:0018234 True acheiria dysostosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017446 MONDO:0018234 True apodia dysostosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017453 MONDO:0016511 True fetal parvovirus syndrome infectious embryofetopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017455 MONDO:0018234 True hyperphalangy dysostosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017456 MONDO:0011348 True central polydactyly of fingers non-syndromic polydactyly UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017460 MONDO:0019530 True syndactyly type 6 non-syndromic syndactyly UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017462 MONDO:0015525 True congenital pseudoarthrosis of the tibia congenital pseudoarthrosis of the limbs UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017463 MONDO:0015525 True congenital pseudoarthrosis of the femur congenital pseudoarthrosis of the limbs UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017464 MONDO:0015525 True congenital pseudoarthrosis of the fibula congenital pseudoarthrosis of the limbs UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017465 MONDO:0015525 True congenital pseudoarthrosis of the radius congenital pseudoarthrosis of the limbs UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017466 MONDO:0015525 True congenital pseudoarthrosis of the ulna congenital pseudoarthrosis of the limbs UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017361 MONDO:0004656 True congenital rubella syndrome rubella UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017372 MONDO:0002254 True congenital varicella syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017376 MONDO:0005578 True reactive arthritis arthritic joint disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0017384 MONDO:0002406 True acute generalized exanthematous pustulosis dermatitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017386 MONDO:0005212 True pleomorphic rhabdomyosarcoma rhabdomyosarcoma UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0017387 MONDO:0018078 True epithelioid sarcoma soft tissue sarcoma UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017409 MONDO:0005132 True fetal cytomegalovirus syndrome cytomegalovirus infection UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017435 MONDO:0002254 True popliteal pterygium syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0017497 MONDO:0017442 True congenital absence of thigh and lower leg with foot present, bilateral congenital absence of thigh and lower leg with foot present SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017499 MONDO:0017443 True congenital absence of both forearm and hand, bilateral congenital absence of both forearm and hand SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017501 MONDO:0017444 True congenital absence of both lower leg and foot, bilateral congenital absence of both lower leg and foot SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017543 MONDO:0008512 True zygodactyly type 2 syndactyly type 1 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017544 MONDO:0008512 True zygodactyly type 3 syndactyly type 1 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017545 MONDO:0008512 True zygodactyly type 4 syndactyly type 1 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017546 MONDO:0008652 True congenital vertical talus, unilateral congenital vertical talus UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017547 MONDO:0008652 True congenital vertical talus, bilateral congenital vertical talus UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017552 MONDO:0019782 True humero-ulnar synostosis, unilateral humero-ulnar synostosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017553 MONDO:0019782 True humero-ulnar synostosis, bilateral humero-ulnar synostosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017554 MONDO:0017985 True radio-ulnar synostosis, unilateral congenital radioulnar synostosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017555 MONDO:0017985 True radio-ulnar synostosis, bilateral congenital radioulnar synostosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017558 MONDO:0017469 True congenital elbow dislocation, unilateral congenital elbow dislocation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017559 MONDO:0017469 True congenital elbow dislocation, bilateral congenital elbow dislocation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017560 MONDO:0017470 True congenital genu recurvatum congenital knee dislocation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017561 MONDO:0017470 True congenital genu flexum congenital knee dislocation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017564 MONDO:0017474 True macrodactyly of fingers, unilateral macrodactyly of fingers UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017565 MONDO:0017474 True macrodactyly of fingers, bilateral macrodactyly of fingers UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017566 MONDO:0017475 True macrodactyly of toes, unilateral macrodactyly of toes UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017567 MONDO:0017475 True macrodactyly of toes, bilateral macrodactyly of toes UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017568 MONDO:0018234 True Prata-Liberal-Goncalves syndrome dysostosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017569 MONDO:0006025 True de Barsy syndrome autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0017569 MONDO:0019303 True de Barsy syndrome premature aging syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017570 MONDO:0006025 True leukocyte adhesion deficiency autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0017570 MONDO:0015978 True leukocyte adhesion deficiency functional neutrophil defect UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017571 MONDO:0017623 True Proteus-like syndrome PTEN hamartoma tumor syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017572 MONDO:0006009 True tick-borne encephalitis viral encephalitis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0017573 MONDO:0017576 True 46,XX disorder of sex development-anorectal anomalies syndrome 46,XX disorder of sex development UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017575 MONDO:0009637 True mitochondrial neurogastrointestinal encephalomyopathy inborn mitochondrial myopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017575 MONDO:0019238 True mitochondrial neurogastrointestinal encephalomyopathy inborn disorder of pyrimidine metabolism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017575 MONDO:0020127 True mitochondrial neurogastrointestinal encephalomyopathy hereditary peripheral neuropathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017576 MONDO:0002145 True 46,XX disorder of sex development disorder of sexual differentiation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017578 MONDO:0017758 True disorder of thiamine metabolism and transport disorder of vitamin and non-protein cofactor absorption and transport UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017579 MONDO:0002254 True Baraitser-Winter cerebrofrontofacial syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0017579 MONDO:0015159 True Baraitser-Winter cerebrofrontofacial syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017579 MONDO:0018838 True Baraitser-Winter cerebrofrontofacial syndrome lissencephaly spectrum disorders UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS -MONDO:0017580 MONDO:0015159 True 11p15.4 microduplication syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017580 MONDO:0016948 True 11p15.4 microduplication syndrome partial duplication of the short arm of chromosome 11 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017580 MONDO:0019716 True 11p15.4 microduplication syndrome overgrowth syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017582 MONDO:0002109 True pituitary adenocarcinoma pituitary cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0017585 MONDO:0016752 True painful orbital and systemic neurofibromas-marfanoid habitus syndrome benign peripheral nerve sheath tumor UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017586 MONDO:0017588 True onychocytic matricoma nail tumor UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017587 MONDO:0017588 True onychomatricoma nail tumor UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017590 MONDO:0000919 True carcinoma of the ampulla of vater ampulla of vater cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0017591 MONDO:0002429 True combined pulmonary fibrosis-emphysema syndrome idiopathic interstitial pneumonia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017594 MONDO:0015759 True indolent B-cell non-Hodgkin lymphoma B-cell non-Hodgkin lymphoma UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017595 MONDO:0015759 True aggressive B-cell non-Hodgkin lymphoma B-cell non-Hodgkin lymphoma UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017596 MONDO:0018905 True diffuse large B-cell lymphoma of the central nervous system diffuse large B-cell lymphoma UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0017571 MONDO:0003847 True Proteus-like syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017571 MONDO:0017623 True Proteus-like syndrome PTEN hamartoma tumor syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017572 MONDO:0006009 True tick-borne encephalitis viral encephalitis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0017576 MONDO:0002145 True 46,XX disorder of sex development disorder of sexual differentiation UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017582 MONDO:0002109 True pituitary adenocarcinoma pituitary cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0017582 MONDO:0004970 True pituitary adenocarcinoma adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0017590 MONDO:0000919 True carcinoma of the ampulla of vater ampulla of vater cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0017594 MONDO:0015759 True indolent B-cell non-Hodgkin lymphoma B-cell non-Hodgkin lymphoma UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017595 MONDO:0015759 True aggressive B-cell non-Hodgkin lymphoma B-cell non-Hodgkin lymphoma UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017596 MONDO:0018905 True diffuse large B-cell lymphoma of the central nervous system diffuse large B-cell lymphoma UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0017596 MONDO:0044887 True diffuse large B-cell lymphoma of the central nervous system central nervous system non-hodgkin lymphoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017597 MONDO:0018905 True T-cell/histiocyte rich large B cell lymphoma diffuse large B-cell lymphoma UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017597 MONDO:0018905 True T-cell/histiocyte rich large B cell lymphoma diffuse large B-cell lymphoma UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017598 MONDO:0000607 True primary cutaneous anaplastic large cell lymphoma primary cutaneous T-cell non-Hodgkin lymphoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017598 MONDO:0018897 True primary cutaneous anaplastic large cell lymphoma primary cutaneous CD30+ T-cell lymphoproliferative disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017598 MONDO:0020325 True primary cutaneous anaplastic large cell lymphoma anaplastic large cell lymphoma UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017598 MONDO:0020633 True primary cutaneous anaplastic large cell lymphoma anaplastic cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017599 MONDO:0017604 True splenic diffuse red pulp small B-cell lymphoma marginal zone lymphoma UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017600 MONDO:0018935 True hairy cell leukemia variant hairy cell leukemia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0017601 MONDO:0017343 True diffuse large B-cell lymphoma with chronic inflammation Epstein-Barr virus-associated malignant lymphoproliferative disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017601 MONDO:0018905 True diffuse large B-cell lymphoma with chronic inflammation diffuse large B-cell lymphoma UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017602 MONDO:0020325 True ALK-positive anaplastic large cell lymphoma anaplastic large cell lymphoma UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017603 MONDO:0020325 True ALK-negative anaplastic large cell lymphoma anaplastic large cell lymphoma UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017604 MONDO:0017594 True marginal zone lymphoma indolent B-cell non-Hodgkin lymphoma UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017607 MONDO:0018075 True caudal regression sequence neural tube defect UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0017610 MONDO:0019276 True epidermolysis bullosa simplex inherited epidermolysis bullosa UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017611 MONDO:0002720 True pituitary tumor sella turcica neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017602 MONDO:0020325 True ALK-positive anaplastic large cell lymphoma anaplastic large cell lymphoma UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017603 MONDO:0020325 True ALK-negative anaplastic large cell lymphoma anaplastic large cell lymphoma UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017604 MONDO:0017594 True marginal zone lymphoma indolent B-cell non-Hodgkin lymphoma UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017611 MONDO:0003381 True pituitary tumor pituitary gland disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017612 MONDO:0019276 True junctional epidermolysis bullosa inherited epidermolysis bullosa UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017614 MONDO:0015159 True X-linked intellectual disability-hypogonadism-ichthyosis-obesity-short stature syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017615 MONDO:0000413 True benign familial infantile epilepsy infancy electroclinical syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0017615 MONDO:0015642 True benign familial infantile epilepsy benign partial infantile seizures UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017617 MONDO:0017769 True acquired adult-onset immunodeficiency acquired immunodeficiency UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017623 MONDO:0019755 True PTEN hamartoma tumor syndrome developmental defect during embryogenesis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017630 MONDO:0017140 True X-linked complicated spastic paraplegia type 1 L1 syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017634 MONDO:0006651 True non-infectious anterior uveitis anterior uveitis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017659 MONDO:0017658 True sporadic hyperekplexia hyperekplexia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017666 MONDO:0019272 True diffuse palmoplantar keratoderma hereditary palmoplantar keratoderma UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017668 MONDO:0015159 True intellectual disability-short stature-hypertelorism syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017672 MONDO:0019272 True focal palmoplantar keratoderma hereditary palmoplantar keratoderma UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017675 MONDO:0019272 True punctate palmoplantar keratoderma hereditary palmoplantar keratoderma UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017677 MONDO:0017675 True focal acral hyperkeratosis punctate palmoplantar keratoderma UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017681 MONDO:0019270 True erythrokeratoderma variabilis progressiva erythrokeratoderma UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017682 MONDO:0015159 True intellectual disability-polydactyly-uncombable hair syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017683 MONDO:0018964 True methylcobalamin deficiency type cblDv1 homocystinuria without methylmalonic aciduria UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017684 MONDO:0019189 True disorder of beta and omega amino acid metabolism inborn disorder of amino acid and other organic acid metabolism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017685 MONDO:0017214 True vitamin B12-responsive methylmalonic acidemia, type cblDv2 vitamin B12-responsive methylmalonic acidemia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017686 MONDO:0019052 True inborn aminoacylase deficiency inborn errors of metabolism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017687 MONDO:0019216 True disorder of neutral amino acid transport inborn disorder of amino acid transport UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017688 MONDO:0019214 True disorder of glycolysis inborn carbohydrate metabolic disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017689 MONDO:0019214 True disorder of fructose metabolism inborn carbohydrate metabolic disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017690 MONDO:0019214 True disorder of galactose metabolism inborn carbohydrate metabolic disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017691 MONDO:0009257 True erythrocyte galactose epimerase deficiency galactose epimerase deficiency UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017692 MONDO:0009257 True generalized galactose epimerase deficiency galactose epimerase deficiency UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017694 MONDO:0009290 True glycogen storage disease due to acid maltase deficiency, infantile onset glycogen storage disease II UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017695 MONDO:0009292 True glycogen storage disease due to glycogen branching enzyme deficiency, progressive hepatic form glycogen storage disease due to glycogen branching enzyme deficiency UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017696 MONDO:0009292 True glycogen storage disease due to glycogen branching enzyme deficiency, non progressive hepatic form glycogen storage disease due to glycogen branching enzyme deficiency UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017697 MONDO:0009292 True glycogen storage disease due to glycogen branching enzyme deficiency, fatal perinatal neuromuscular form glycogen storage disease due to glycogen branching enzyme deficiency UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017698 MONDO:0009292 True glycogen storage disease due to glycogen branching enzyme deficiency, congenital neuromuscular form glycogen storage disease due to glycogen branching enzyme deficiency UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017699 MONDO:0009292 True glycogen storage disease due to glycogen branching enzyme deficiency, childhood combined hepatic and myopathic form glycogen storage disease due to glycogen branching enzyme deficiency UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017700 MONDO:0009292 True glycogen storage disease due to glycogen branching enzyme deficiency, childhood neuromuscular form glycogen storage disease due to glycogen branching enzyme deficiency UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017701 MONDO:0009292 True glycogen storage disease due to glycogen branching enzyme deficiency, adult neuromuscular form glycogen storage disease due to glycogen branching enzyme deficiency UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017704 MONDO:0015653 True familial partial epilepsy monogenic epilepsy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017704 MONDO:0020072 True familial partial epilepsy childhood-onset epilepsy syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017704 MONDO:0020073 True familial partial epilepsy adolescent-onset epilepsy syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017705 MONDO:0020295 True congenital pulmonary venous return anomaly congenital pulmonary veins anomaly UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017706 MONDO:0019214 True disorder of carbohydrate transmembrane transport and absorption inborn carbohydrate metabolic disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017708 MONDO:0017953 True mevalonate kinase deficiency hereditary periodic fever syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017708 MONDO:0019240 True mevalonate kinase deficiency sterol biosynthesis disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017713 MONDO:0019223 True disorder of fatty acid oxidation and ketogenesis disorder of fatty acid and ketone body metabolism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017714 MONDO:0017713 True acyl-CoA dehydrogenase deficiency disorder of fatty acid oxidation and ketogenesis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017715 MONDO:0017713 True 3-hydroxyacyl-CoA dehydrogenase deficiency disorder of fatty acid oxidation and ketogenesis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017716 MONDO:0019223 True disorder of carnitine cycle and carnitine transport disorder of fatty acid and ketone body metabolism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017719 MONDO:0019255 True gangliosidosis sphingolipidosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0017720 MONDO:0017719 True GM2 gangliosidosis gangliosidosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0017720 MONDO:0024237 True GM2 gangliosidosis inherited neurodegenerative disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017721 MONDO:0010006 True Sandhoff disease, infantile form Sandhoff disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017722 MONDO:0010006 True Sandhoff disease, juvenile form Sandhoff disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017723 MONDO:0010006 True Sandhoff disease, adult form Sandhoff disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017724 MONDO:0010100 True Tay-Sachs disease, b variant, infantile form Tay-Sachs disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017725 MONDO:0010100 True Tay-Sachs disease, b variant, juvenile form Tay-Sachs disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017726 MONDO:0010100 True Tay-Sachs disease, B variant, adult form Tay-Sachs disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017727 MONDO:0020292 True fixed subaortic stenosis congenital anomaly of the great arteries UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017728 MONDO:0010100 True Tay-Sachs disease, B1 variant Tay-Sachs disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017731 MONDO:0002561 True glycoproteinosis lysosomal storage disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017732 MONDO:0009561 True alpha-mannosidosis, infantile form alpha-mannosidosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017733 MONDO:0009561 True alpha-mannosidosis, adult form alpha-mannosidosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017734 MONDO:0019251 True sialidosis oligosaccharidosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017736 MONDO:0002561 True disorder of sialic acid metabolism lysosomal storage disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017737 MONDO:0019366 True intermediate severe Salla disease free sialic acid storage disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017738 MONDO:0002561 True lysosomal glycogen storage disease lysosomal storage disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017739 MONDO:0019052 True disorder of lysosomal-related organelles inborn errors of metabolism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017740 MONDO:0015286 True disorder of protein N-glycosylation congenital disorder of glycosylation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017741 MONDO:0015286 True disorder of protein O-glycosylation congenital disorder of glycosylation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017747 MONDO:0017741 True disorder of fucoglycosan synthesis disorder of protein O-glycosylation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017748 MONDO:0015286 True inborn disorder of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation congenital disorder of glycosylation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017749 MONDO:0015286 True disorder of multiple glycosylation congenital disorder of glycosylation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017750 MONDO:0017749 True defect in conserved oligomeric Golgi complex disorder of multiple glycosylation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017752 MONDO:0017749 True defect in V-ATPase disorder of multiple glycosylation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017754 MONDO:0019052 True inborn disorder of porphyrin metabolism inborn errors of metabolism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017755 MONDO:0017754 True inborn disorder of bilirubin metabolism inborn disorder of porphyrin metabolism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017757 MONDO:0019052 True disorder of metabolite absorption and transport inborn errors of metabolism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017758 MONDO:0017757 True disorder of vitamin and non-protein cofactor absorption and transport disorder of metabolite absorption and transport UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017759 MONDO:0019219 True disorder of catecholamine synthesis inborn disorder of neurotransmitter metabolism and transport UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017761 MONDO:0017757 True disorder of mineral absorption and transport disorder of metabolite absorption and transport UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017762 MONDO:0017761 True disorder of copper metabolism disorder of mineral absorption and transport UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017763 MONDO:0017761 True disorder of iron metabolism and transport disorder of mineral absorption and transport UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017764 MONDO:0017761 True disorder of zinc metabolism disorder of mineral absorption and transport UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017765 MONDO:0017761 True disorder of magnesium transport disorder of mineral absorption and transport UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017766 MONDO:0017761 True disorder of manganese transport disorder of mineral absorption and transport UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017768 MONDO:0100036 True reflex epilepsy variable age onset epilepsy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0017771 MONDO:0002254 True Mayer-Rokitansky-Kuster-Hauser syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0017771 MONDO:0015830 True Mayer-Rokitansky-Kuster-Hauser syndrome partial bilateral aplasia of the mullerian ducts UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017774 MONDO:0001822 True hypobetalipoproteinemia hypolipoproteinemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0017775 MONDO:0000314 True melioidosis primary bacterial infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0017776 MONDO:0000316 True nocardiosis opportunistic bacterial infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0017779 MONDO:0019251 True alpha-N-acetylgalactosaminidase deficiency oligosaccharidosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017780 MONDO:0015159 True 20p13 microdeletion syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017780 MONDO:0016898 True 20p13 microdeletion syndrome partial monosomy of the short arm of chromosome 20 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017781 MONDO:0022174 True 12p12.1 microdeletion syndrome chromosome 12p deletion UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017784 MONDO:0017344 True Epstein-Barr virus-associated gastric carcinoma Epstein-Barr virus-associated carcinoma UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017786 MONDO:0016953 True 2q23.1 microduplication syndrome partial duplication of the long arm of chromosome 2 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017788 MONDO:0015161 True contractures - webbed neck - micrognathia - hypoplastic nipples syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017790 MONDO:0018502 True gastric adenocarcinoma and proximal polyposis of the stomach hereditary gastric cancer UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017792 MONDO:0015159 True 7p22.1 microduplication syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017792 MONDO:0016944 True 7p22.1 microduplication syndrome partial duplication of the short arm of chromosome 7 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017793 MONDO:0019755 True marfanoid habitus-inguinal hernia-advanced bone age syndrome developmental defect during embryogenesis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017794 MONDO:0017010 True Xq12-q13.3 duplication syndrome partial duplication of the long arm of chromosome X UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017648 MONDO:0005071 True Sydenham chorea nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017771 MONDO:0002254 True Mayer-Rokitansky-Kuster-Hauser syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0017773 MONDO:0005066 True hypoalphalipoproteinemia metabolic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017795 MONDO:0021192 True ameloblastoma odontogenic neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017805 MONDO:0015159 True intellectual disability-hypotonia-brachycephaly-pyloric stenosis-cryptorchidism syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017806 MONDO:0015159 True 15q overgrowth syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017806 MONDO:0016965 True 15q overgrowth syndrome partial duplication of the long arm of chromosome 15 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017806 MONDO:0019716 True 15q overgrowth syndrome overgrowth syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017810 MONDO:0018590 True variant ABeta2M amyloidosis ABeta2M amyloidosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0017810 MONDO:0018634 True variant ABeta2M amyloidosis hereditary amyloidosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017811 MONDO:0016904 True severe neonatal hypotonia-seizures-encephalopathy syndrome due to 5q31.3 microdeletion partial deletion of the long arm of chromosome 5 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017812 MONDO:0019716 True segmental progressive overgrowth syndrome with fibroadipose hyperplasia overgrowth syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017813 MONDO:0003847 True van Maldergem syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0017813 MONDO:0015159 True van Maldergem syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017814 MONDO:0002129 True primary bone lymphoma bone cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0017814 MONDO:0017207 True primary bone lymphoma primary organ-specific lymphoma UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017815 MONDO:0017410 True acquired porencephaly porencephaly UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017816 MONDO:0019438 True primary systemic amyloidosis AL amyloidosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017817 MONDO:0019438 True primary localized amyloidosis AL amyloidosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017822 MONDO:0003429 True mixed functioning pituitary adenoma functioning pituitary gland adenoma UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017823 MONDO:0017822 True somatomammotropinoma mixed functioning pituitary adenoma UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017824 MONDO:0006373 True familial isolated pituitary adenoma pituitary gland adenoma UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017825 MONDO:0019613 True silent pituitary adenoma non-functioning pituitary adenoma UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017826 MONDO:0019613 True null pituitary adenoma non-functioning pituitary adenoma UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017827 MONDO:0002547 True malignant peripheral nerve sheath tumor nerve sheath neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0017827 MONDO:0016749 True malignant peripheral nerve sheath tumor tumor of cranial and spinal nerves UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017799 MONDO:0021058 True Meigs syndrome neoplastic syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017807 MONDO:0021058 True growing teratoma syndrome neoplastic syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017814 MONDO:0002129 True primary bone lymphoma bone cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0017814 MONDO:0017207 True primary bone lymphoma primary organ-specific lymphoma UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017827 MONDO:0002547 True malignant peripheral nerve sheath tumor nerve sheath neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0017827 MONDO:0021089 True malignant peripheral nerve sheath tumor peripheral nervous system cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017829 MONDO:0008369 True autosomal dominant proximal renal tubular acidosis proximal renal tubular acidosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017829 MONDO:0015962 True autosomal dominant proximal renal tubular acidosis inherited renal tubular disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017830 MONDO:0010079 True severe Canavan disease Canavan disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017831 MONDO:0010079 True mild Canavan disease Canavan disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017833 MONDO:0015691 True primary hypereosinophilic syndrome hypereosinophilic syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017834 MONDO:0015691 True secondary hypereosinophilic syndrome hypereosinophilic syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017835 MONDO:0017834 True lymphocytic hypereosinophilic syndrome secondary hypereosinophilic syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017836 MONDO:0019270 True erythrokeratoderma en cocardes erythrokeratoderma UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017838 MONDO:0002185 True sclerosteosis hyperostosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0017839 MONDO:0008728 True classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, salt wasting form classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017840 MONDO:0008728 True classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, simple virilizing form classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017842 MONDO:0005308 True Senior-Loken syndrome ciliopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0017842 MONDO:0006025 True Senior-Loken syndrome autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0017844 MONDO:0000607 True Sezary syndrome primary cutaneous T-cell non-Hodgkin lymphoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0017845 MONDO:0100309 True spastic ataxia hereditary ataxia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0017846 MONDO:0017845 True autosomal dominant spastic ataxia spastic ataxia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017847 MONDO:0017845 True autosomal recessive spastic ataxia spastic ataxia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017851 MONDO:0017666 True erythrokeratodermia variabilis diffuse palmoplantar keratoderma UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017853 MONDO:0015925 True hypersensitivity pneumonitis interstitial lung disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0017855 MONDO:0015974 True T-B- severe combined immunodeficiency severe combined immunodeficiency UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017858 MONDO:0015667 True acute erythroid leukemia acute myeloid leukemia by FAB classification UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017843 MONDO:0005087 True congenital pulmonary sequestration respiratory system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017853 MONDO:0043905 True hypersensitivity pneumonitis pneumonitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017858 MONDO:0015667 True acute erythroid leukemia acute myeloid leukemia by FAB classification UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017858 MONDO:0020703 True acute erythroid leukemia erythroid neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017865 MONDO:0020292 True congenital pulmonary valve stenosis congenital anomaly of the great arteries UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017866 MONDO:0017865 True subpulmonary stenosis congenital pulmonary valve stenosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017867 MONDO:0015159 True distal 17p13.1 microdeletion syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017869 MONDO:0018230 True chondroectodermal dysplasia with night blindness skeletal dysplasia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017869 MONDO:0019287 True chondroectodermal dysplasia with night blindness ectodermal dysplasia syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017870 MONDO:0017865 True supravalvular pulmonary stenosis congenital pulmonary valve stenosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017871 MONDO:0019801 True bilateral massive adrenal hemorrhage acute adrenal insufficiency UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017872 MONDO:0018087 True Lujo hemorrhagic fever viral hemorrhagic fever UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017875 MONDO:0018087 True Bolivian hemorrhagic fever viral hemorrhagic fever UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017876 MONDO:0018087 True Venezuelan hemorrhagic fever viral hemorrhagic fever UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017877 MONDO:0018087 True Brazilian hemorrhagic fever viral hemorrhagic fever UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017878 MONDO:0018087 True Chapare hemorrhagic fever viral hemorrhagic fever UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017879 MONDO:0005275 True hantavirus pulmonary syndrome lung disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0017879 MONDO:0018087 True hantavirus pulmonary syndrome viral hemorrhagic fever UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017880 MONDO:0018087 True Rift valley fever viral hemorrhagic fever UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017881 MONDO:0018087 True Kyasanur forest disease viral hemorrhagic fever UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017882 MONDO:0018087 True Omsk hemorrhagic fever viral hemorrhagic fever UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017879 MONDO:0002254 True hantavirus pulmonary syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0017879 MONDO:0005780 True hantavirus pulmonary syndrome hantavirus infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017880 MONDO:0018087 True Rift valley fever viral hemorrhagic fever UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017884 MONDO:0002512 True papillary renal cell carcinoma papillary adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0017884 MONDO:0005549 True papillary renal cell carcinoma renal cell adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017885 MONDO:0005549 True chromophobe renal cell carcinoma renal cell adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017886 MONDO:0005086 True MIT family translocation renal cell carcinoma renal cell carcinoma UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017887 MONDO:0005549 True renal cell carcinoma associated with neuroblastoma renal cell adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017890 MONDO:0005549 True tubulocystic renal cell carcinoma renal cell adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017892 MONDO:0015168 True autosomal recessive myogenic arthrogryposis multiplex congenita arthrogryposis multiplex congenita UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017892 MONDO:0019950 True autosomal recessive myogenic arthrogryposis multiplex congenita congenital muscular dystrophy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017893 MONDO:0018874 True inherited acute myeloid leukemia acute myeloid leukemia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017894 MONDO:0018874 True acute myeloid leukemia with CEBPA somatic mutations acute myeloid leukemia UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0017894 MONDO:0018874 True acute myeloid leukemia with CEBPA somatic mutations acute myeloid leukemia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0017895 MONDO:0015447 True familial papillary or follicular thyroid carcinoma differentiated thyroid carcinoma UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017895 MONDO:0017896 True familial papillary or follicular thyroid carcinoma familial nonmedullary thyroid carcinoma UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017896 MONDO:0015075 True familial nonmedullary thyroid carcinoma thyroid gland carcinoma UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017900 MONDO:0019146 True autosomal recessive Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR2 deficiency inherited susceptibility to mycobacterial diseases UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017901 MONDO:0015979 True autosomal recessive Mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency hereditary predisposition to infections UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017902 MONDO:0015979 True autosomal recessive Mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR2 deficiency hereditary predisposition to infections UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017903 MONDO:0019146 True autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR2 deficiency inherited susceptibility to mycobacterial diseases UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017905 MONDO:0019146 True X-linked Mendelian susceptibility to mycobacterial diseases inherited susceptibility to mycobacterial diseases UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017906 MONDO:0015301 True amyloidosis cutis dyschromia primary cutaneous amyloidosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0017907 MONDO:0017207 True primary lymphoma of the conjunctiva primary organ-specific lymphoma UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017910 MONDO:0020102 True dehydrated hereditary stomatocytosis hereditary stomatocytosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017913 MONDO:0019064 True pure or complex hereditary spastic paraplegia hereditary spastic paraplegia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017917 MONDO:0015150 True maternally-inherited spastic paraplegia complex hereditary spastic paraplegia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017919 MONDO:0019356 True exstrophy-epispadias complex urogenital tract malformation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017920 MONDO:0015159 True deafness-genital anomalies-metacarpal and metatarsal synostosis syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017923 MONDO:0003847 True multiple synostoses syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0017923 MONDO:0019054 True multiple synostoses syndrome congenital limb malformation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017925 MONDO:0003778 True T-cell immunodeficiency with epidermodysplasia verruciformis inborn error of immunity UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017927 MONDO:0019698 True severe lateral tibial bowing with short stature bent bone dysplasia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017931 MONDO:0016112 True hereditary inclusion body myopathy type 4 hereditary inclusion-body myopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017932 MONDO:0015159 True muscular hypertrophy-hepatomegaly-polyhydramnios syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017933 MONDO:0016387 True hypertrophic cardiomyopathy and renal tubular disease due to mitochondrial DNA mutation mitochondrial oxidative phosphorylation disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017934 MONDO:0015159 True aphonia-deafness-retinal dystrophy-bifid halluces-intellectual disability syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017935 MONDO:0015624 True hyperinsulinism due to HNF1A deficiency diazoxide-sensitive diffuse hyperinsulinism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017936 MONDO:0019952 True benign Samaritan congenital myopathy congenital myopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017937 MONDO:0019548 True autosomal dominant intermediate Charcot-Marie-Tooth disease with neuropathic pain autosomal dominant intermediate Charcot-Marie-Tooth disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017939 MONDO:0018948 True classic multiminicore myopathy multiminicore myopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017940 MONDO:0018993 True autosomal dominant Charcot-Marie-Tooth disease type 2 due to KIF5A mutation Charcot-Marie-Tooth disease type 2 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017941 MONDO:0018093 True chikungunya arbovirus fever UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017944 MONDO:0000827 True invasive non-typhoidal salmonellosis salmonellosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017951 MONDO:0019287 True trichorhinophalangeal syndrome ectodermal dysplasia syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING -MONDO:0017951 MONDO:0019695 True trichorhinophalangeal syndrome acromelic dysplasia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017953 MONDO:0015137 True hereditary periodic fever syndrome periodic fever syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017958 MONDO:0019751 True magic syndrome autoinflammatory syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017967 MONDO:0020040 True testicular agenesis 46,XY disorder of sex development UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017968 MONDO:0020040 True 46,XY ovotesticular disorder of sex development 46,XY disorder of sex development UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017972 MONDO:0008725 True classic congenital lipoid adrenal hyperplasia due to STAR deficency congenital lipoid adrenal hyperplasia due to STAR deficency UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017973 MONDO:0008725 True non-classic congenital lipoid adrenal hyperplasia due to STAR deficency congenital lipoid adrenal hyperplasia due to STAR deficency UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017975 MONDO:0002145 True sex chromosome disorder of sex development disorder of sexual differentiation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017979 MONDO:0002459 True autoimmune lymphoproliferative syndrome type IV hypersensitivity disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0017979 MONDO:0016537 True autoimmune lymphoproliferative syndrome lymphoproliferative syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0017980 MONDO:0018234 True syngnathia multiple anomalies dysostosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017987 MONDO:0002545 True syringomyelia spinal cord disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0017990 MONDO:0000992 True catecholaminergic polymorphic ventricular tachycardia heart conduction disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0017991 MONDO:0015236 True Takayasu arteritis aortic arch defects UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017992 MONDO:0019751 True autoinflammatory syndrome with pyogenic bacterial infection and amylopectinosis autoinflammatory syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017994 MONDO:0020075 True severe early-onset obesity-insulin resistance syndrome due to SH2B1 deficiency hereditary non-syndromic obesity UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017997 MONDO:0015159 True telecanthus-hypertelorism-strabismus-pes cavus syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017998 MONDO:0018307 True PLA2G6-associated neurodegeneration neurodegeneration with brain iron accumulation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017999 MONDO:0015150 True fatty acid hydroxylase-associated neurodegeneration complex hereditary spastic paraplegia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017999 MONDO:0018117 True fatty acid hydroxylase-associated neurodegeneration disorder of phospholipids, sphingolipids and fatty acids biosynthesis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017999 MONDO:0018307 True fatty acid hydroxylase-associated neurodegeneration neurodegeneration with brain iron accumulation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018000 MONDO:0018234 True hereditary thrombocytosis with transverse limb defect dysostosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018000 MONDO:0019054 True hereditary thrombocytosis with transverse limb defect congenital limb malformation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018000 MONDO:0021181 True hereditary thrombocytosis with transverse limb defect inherited blood coagulation disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018002 MONDO:0009637 True adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy inborn mitochondrial myopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018002 MONDO:0016387 True adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy mitochondrial oxidative phosphorylation disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018004 MONDO:0018872 True acute megakaryoblastic leukemia without down syndrome acute megakaryoblastic leukemia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018005 MONDO:0015087 True spastic paraplegia-Paget disease of bone syndrome autosomal dominant complex spastic paraplegia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018006 MONDO:0016108 True adult-onset distal myopathy due to VCP mutation autosomal dominant distal myopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018010 MONDO:0020122 True juvenile idiopathic inflammatory myopathy acquired idiopathic inflammatory myopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018011 MONDO:0018010 True juvenile overlap myositis juvenile idiopathic inflammatory myopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018013 MONDO:0018904 True non-immunoglobulin-mediated membranoproliferative glomerulonephritis primary membranoproliferative glomerulonephritis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018014 MONDO:0017714 True transient neonatal multiple acyl-CoA dehydrogenase deficiency acyl-CoA dehydrogenase deficiency UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018016 MONDO:0015066 True classic neuroendocrine tumor of appendix neuroendocrine tumor of the appendix, well differentiated, low or intermediate grade UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018017 MONDO:0002120 True goblet cell carcinoma neuroendocrine carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017979 MONDO:0021058 True autoimmune lymphoproliferative syndrome neoplastic syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017987 MONDO:0002545 True syringomyelia spinal cord disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0017989 MONDO:0007263 True His bundle tachycardia cardiac rhythm disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017991 MONDO:0002254 True Takayasu arteritis syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0017991 MONDO:0043494 True Takayasu arteritis arteritis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018017 MONDO:0003196 True goblet cell carcinoma appendix carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018017 MONDO:0015066 True goblet cell carcinoma neuroendocrine tumor of the appendix, well differentiated, low or intermediate grade UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018018 MONDO:0016345 True wild type ATTR amyloidosis non-familial restrictive cardiomyopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018018 MONDO:0019065 True wild type ATTR amyloidosis amyloidosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0018022 MONDO:0017145 True hemoglobin Lepore-beta-thalassemia syndrome beta-thalassemia and related diseases UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018026 MONDO:0019934 True tetraploidy syndrome polyploidy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018027 MONDO:0019040 True duplication/inversion 15q11 chromosomal disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018028 MONDO:0016942 True tetrasomy 5p partial trisomy/tetrasomy of the short arm of chromosome 5 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018017 MONDO:0021659 True goblet cell carcinoma combined carcinoid and adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018024 MONDO:0002406 True hydroa vacciniforme dermatitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018031 MONDO:0045071 True granulomatous slack skin disease mycosis fungoides variant UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018034 MONDO:0016677 True thalidomide embryopathy toxic or drug-related embryofetopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018034 MONDO:0018234 True thalidomide embryopathy dysostosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018034 MONDO:0019054 True thalidomide embryopathy congenital limb malformation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018037 MONDO:0002468 True hyper-IgE syndrome hyperimmunoglobulin syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0018039 MONDO:0001342 True selective IgM deficiency dysgammaglobulinemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0018043 MONDO:0015161 True Thomas syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018045 MONDO:0020022 True Hoyeraal-Hreidarsson syndrome central nervous system malformation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018047 MONDO:0021181 True familial thrombomodulin anomalies inherited blood coagulation disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018050 MONDO:0018234 True tibial aplasia-ectrodactyly syndrome dysostosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018050 MONDO:0019054 True tibial aplasia-ectrodactyly syndrome congenital limb malformation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018053 MONDO:0019287 True trichothiodystrophy ectodermal dysplasia syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS -MONDO:0018054 MONDO:0004981 True familial atrial fibrillation atrial fibrillation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0018034 MONDO:0002254 True thalidomide embryopathy syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018037 MONDO:0002468 True hyper-IgE syndrome hyperimmunoglobulin syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0018044 MONDO:0005466 True idiopathic hypersomnia hypersomnia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018055 MONDO:0006517 True pediatric hepatocellular carcinoma childhood malignant neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018055 MONDO:0007256 True pediatric hepatocellular carcinoma hepatocellular carcinoma UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0018056 MONDO:0006572 True bullous lichen planus lichen planus SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018059 MONDO:0006670 True meningococcal meningitis bacterial meningitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0018061 MONDO:0019287 True trichodermodysplasia-dental alterations syndrome ectodermal dysplasia syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018063 MONDO:0006591 True nodular non-suppurative panniculitis panniculitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0018063 MONDO:0019296 True nodular non-suppurative panniculitis subcutaneous tissue disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018064 MONDO:0015338 True trigonocephaly-broad thumbs syndrome syndromic craniosynostosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018065 MONDO:0015337 True isolated trigonocephaly isolated craniosynostosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018066 MONDO:0019852 True trisomy X inherited primary ovarian failure UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018067 MONDO:0019934 True triploidy polyploidy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018069 MONDO:0016967 True distal trisomy 17q partial duplication of the long arm of chromosome 17 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018072 MONDO:0016581 True persistent truncus arteriosus conotruncal heart malformations UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018075 MONDO:0020022 True neural tube defect central nervous system malformation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018076 MONDO:0000314 True tuberculosis primary bacterial infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0018077 MONDO:0000314 True tularemia primary bacterial infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0018055 MONDO:0007256 True pediatric hepatocellular carcinoma hepatocellular carcinoma UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0018056 MONDO:0006572 True bullous lichen planus lichen planus SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018058 MONDO:0005087 True tracheal agenesis respiratory system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018066 MONDO:0002254 True trisomy X syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018068 MONDO:0002254 True trisomy 13 syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0018072 MONDO:0005453 True persistent truncus arteriosus congenital heart disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018076 MONDO:0020590 True tuberculosis mycobacterial infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018078 MONDO:0005089 True soft tissue sarcoma sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018078 MONDO:0024637 True soft tissue sarcoma malignant soft tissue neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018079 MONDO:0005197 True thymic epithelial neoplasm thymus neoplasm UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018079 MONDO:0005197 True thymic epithelial neoplasm thymus neoplasm UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018079 MONDO:0005626 True thymic epithelial neoplasm epithelial neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018081 MONDO:0018087 True hemorrhagic fever-renal syndrome viral hemorrhagic fever UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018082 MONDO:0020292 True aorto-ventricular tunnel congenital anomaly of the great arteries UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018084 MONDO:0004994 True Uhl anomaly cardiomyopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018086 MONDO:0018855 True ulerythema ophryogenesis keratosis pilaris atrophicans UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018088 MONDO:0017953 True familial Mediterranean fever hereditary periodic fever syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018089 MONDO:0002070 True double outlet right ventricle ventricular septal defect UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0018089 MONDO:0016581 True double outlet right ventricle conotruncal heart malformations UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018090 MONDO:0016581 True double outlet left ventricle conotruncal heart malformations UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018091 MONDO:0015159 True microcephaly-brachydactyly-kyphoscoliosis syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018091 MONDO:0019054 True microcephaly-brachydactyly-kyphoscoliosis syndrome congenital limb malformation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018092 MONDO:0017255 True Vogt-Koyanagi-Harada disease panuveitis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0018094 MONDO:0000426 True Waardenburg syndrome autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0018094 MONDO:0002254 True Waardenburg syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0018094 MONDO:0015161 True Waardenburg syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018095 MONDO:0015159 True Weaver-Williams syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018096 MONDO:0000429 True Weill-Marchesani syndrome autosomal genetic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0018096 MONDO:0002254 True Weill-Marchesani syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0018096 MONDO:0015161 True Weill-Marchesani syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018096 MONDO:0019695 True Weill-Marchesani syndrome acromelic dysplasia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018097 MONDO:0000413 True West syndrome infancy electroclinical syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0018100 MONDO:0004689 True familial primary hypomagnesemia inborn metal metabolism disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0018102 MONDO:0000942 True corneal dystrophy corneal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0018103 MONDO:0004907 True Quinquaud's folliculitis decalvans alopecia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018105 MONDO:0002254 True Wolfram syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0018106 MONDO:0019236 True hereditary xanthinuria inborn disorder of purine metabolism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018116 MONDO:0017690 True galactosemia disorder of galactose metabolism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018117 MONDO:0002525 True disorder of phospholipids, sphingolipids and fatty acids biosynthesis inherited lipid metabolism disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018121 MONDO:0016387 True mitochondrial DNA maintenance syndrome mitochondrial oxidative phosphorylation disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018125 MONDO:0015653 True focal epilepsy-intellectual disability-cerebro-cerebellar malformation monogenic epilepsy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018126 MONDO:0020071 True progressive myoclonic epilepsy with dystonia infantile epilepsy syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018127 MONDO:0016914 True 16q24.1 microdeletion syndrome partial deletion of the long arm of chromosome 16 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018128 MONDO:0019707 True phalangeal microgeodic syndrome primary osteolysis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018129 MONDO:0019255 True autosomal recessive cerebellar ataxia with late-onset spasticity sphingolipidosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018129 MONDO:0020044 True autosomal recessive cerebellar ataxia with late-onset spasticity autosomal recessive metabolic cerebellar ataxia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018130 MONDO:0019219 True brain dopamine-serotonin vesicular transport disease inborn disorder of neurotransmitter metabolism and transport UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018131 MONDO:0016908 True neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-hip dysplasia syndrome due to 9q21 microdeletion partial monosomy of the long arm of chromosome 9 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018131 MONDO:0018681 True neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-hip dysplasia syndrome due to 9q21 microdeletion neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-hip dysplasia syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018133 MONDO:0020127 True attenuated Chédiak-Higashi syndrome hereditary peripheral neuropathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018133 MONDO:0024237 True attenuated Chédiak-Higashi syndrome inherited neurodegenerative disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018134 MONDO:0019189 True disorder of melanin metabolism inborn disorder of amino acid and other organic acid metabolism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018135 MONDO:0018910 True oculocutaneous albinism type 1 oculocutaneous albinism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018136 MONDO:0018135 True minimal pigment oculocutaneous albinism type 1 oculocutaneous albinism type 1 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018137 MONDO:0018135 True temperature-sensitive oculocutaneous albinism type 1 oculocutaneous albinism type 1 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018141 MONDO:0009949 True pyruvate carboxylase deficiency, infantile form pyruvate carboxylase deficiency disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018142 MONDO:0009949 True pyruvate carboxylase deficiency, severe neonatal type pyruvate carboxylase deficiency disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018143 MONDO:0009949 True pyruvate carboxylase deficiency, benign type pyruvate carboxylase deficiency disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018149 MONDO:0017719 True GM1 gangliosidosis gangliosidosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0018150 MONDO:0019255 True Gaucher disease sphingolipidosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0018151 MONDO:0016387 True coenzyme Q10 deficiency mitochondrial oxidative phosphorylation disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018151 MONDO:0020127 True coenzyme Q10 deficiency hereditary peripheral neuropathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018152 MONDO:0001280 True serpiginous choroiditis choroiditis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018153 MONDO:0015531 True Erdheim-Chester disease non-Langerhans cell histiocytosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0018156 MONDO:0016902 True 3q26q27 microdeletion syndrome partial deletion of the long arm of chromosome 3 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018158 MONDO:0016387 True mitochondrial DNA depletion syndrome mitochondrial oxidative phosphorylation disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018160 MONDO:0008380 True hereditary retinoblastoma retinoblastoma UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0018160 MONDO:0015356 True hereditary retinoblastoma hereditary neoplastic syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018161 MONDO:0008380 True non-hereditary retinoblastoma retinoblastoma UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018163 MONDO:0019573 True autosomal recessive cutis laxa type 2A autosomal recessive cutis laxa type 2 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018164 MONDO:0005979 True arterial thoracic outlet syndrome thoracic outlet syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018165 MONDO:0005979 True venous thoracic outlet syndrome thoracic outlet syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018166 MONDO:0006858 True oral submucous fibrosis mouth disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0018167 MONDO:0019033 True primary essential cutis verticis gyrata primary cutis verticis gyrata UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018168 MONDO:0019033 True primary non-essential cutis verticis gyrata primary cutis verticis gyrata UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018087 MONDO:0005108 True viral hemorrhagic fever viral infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018094 MONDO:0002254 True Waardenburg syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0018096 MONDO:0002254 True Weill-Marchesani syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0018097 MONDO:0002254 True West syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0018102 MONDO:0000942 True corneal dystrophy corneal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0018105 MONDO:0002254 True Wolfram syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0018124 MONDO:0001068 True Oncogenic osteomalacia osteomalacia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018124 MONDO:0021073 True Oncogenic osteomalacia paraneoplastic syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018130 MONDO:0013150 True brain dopamine-serotonin vesicular transport disease parkinsonism-dystonia, infantile UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0018150 MONDO:0019255 True Gaucher disease sphingolipidosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0018160 MONDO:0008380 True hereditary retinoblastoma retinoblastoma UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0018166 MONDO:0006858 True oral submucous fibrosis mouth disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0018170 MONDO:0005377 True idiopathic nephrotic syndrome nephrotic syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018171 MONDO:0006290 True malignant germ cell tumor of ovary malignant germ cell tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018171 MONDO:0011366 True malignant germ cell tumor of ovary ovarian germ cell tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0018171 MONDO:0018202 True malignant germ cell tumor of ovary gonadal germ cell tumor UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018171 MONDO:0018365 True malignant germ cell tumor of ovary malignant non-epithelial tumor of ovary UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018172 MONDO:0018365 True malignant sex cord stromal tumor of ovary malignant non-epithelial tumor of ovary UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018171 MONDO:0011366 True malignant germ cell tumor of ovary ovarian germ cell tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0018172 MONDO:0021657 True malignant sex cord stromal tumor of ovary ovarian sex cord-stromal tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018177 MONDO:0016680 True glioblastoma high grade astrocytic tumor UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018180 MONDO:0017592 True staphylococcal scarlet fever staphylococcal toxemia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018181 MONDO:0000315 True staphylococcal scalded skin syndrome commensal bacterial infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0018181 MONDO:0017592 True staphylococcal scalded skin syndrome staphylococcal toxemia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018182 MONDO:0017592 True bullous impetigo staphylococcal toxemia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018183 MONDO:0017592 True staphylococcal necrotizing pneumonia staphylococcal toxemia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018189 MONDO:0019216 True autosomal recessive cerebellar ataxia - pyramidal signs - nystagmus - oculomotor apraxia syndrome inborn disorder of amino acid transport UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018189 MONDO:0020044 True autosomal recessive cerebellar ataxia - pyramidal signs - nystagmus - oculomotor apraxia syndrome autosomal recessive metabolic cerebellar ataxia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018177 MONDO:0016680 True glioblastoma high grade astrocytic tumor UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018193 MONDO:0010108 True testicular teratoma testicular germ cell tumor UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018197 MONDO:0015962 True mitochondrial DNA depletion syndrome, hepatocerebrorenal form inherited renal tubular disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018197 MONDO:0100512 True mitochondrial DNA depletion syndrome, hepatocerebrorenal form mitochondrial DNA depletion syndrome, hepatocerebral form UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018198 MONDO:0020072 True acute encephalopathy with biphasic seizures and late reduced diffusion childhood-onset epilepsy syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018199 MONDO:0020072 True new-onset refractory status epilepticus childhood-onset epilepsy syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018199 MONDO:0020073 True new-onset refractory status epilepticus adolescent-onset epilepsy syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018201 MONDO:0005040 True extragonadal germ cell tumor germ cell tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018203 MONDO:0019303 True LMNA-related cardiocutaneous progeria syndrome premature aging syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018204 MONDO:0015159 True 20q11.2 microduplication syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018204 MONDO:0016970 True 20q11.2 microduplication syndrome partial trisomy of the long arm of chromosome 20 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018205 MONDO:0022756 True distal monosomy 1q chromosome 1q deletion UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018206 MONDO:0016112 True childhood-onset autosomal recessive myopathy with external ophthalmoplegia hereditary inclusion-body myopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018207 MONDO:0015159 True 2p13.2 microdeletion syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018207 MONDO:0016884 True 2p13.2 microdeletion syndrome partial deletion of the short arm of chromosome 2 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018208 MONDO:0018975 True neurofibromatosis type 1 due to NF1 mutation or intragenic deletion neurofibromatosis type 1 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018209 MONDO:0008752 True Alexander disease type I Alexander disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018210 MONDO:0008752 True Alexander disease type II Alexander disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018213 MONDO:0015364 True hereditary sensory and autonomic neuropathy type 1 hereditary sensory and autonomic neuropathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0018213 MONDO:0018117 True hereditary sensory and autonomic neuropathy type 1 disorder of phospholipids, sphingolipids and fatty acids biosynthesis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018214 MONDO:0015653 True generalized epilepsy with febrile seizures plus monogenic epilepsy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018216 MONDO:0012496 True Koolen-de Vries syndrome due to 17q21.31 microdeletion syndrome Koolen-de Vries syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018216 MONDO:0016915 True Koolen-de Vries syndrome due to 17q21.31 microdeletion syndrome partial deletion of the long arm of chromosome 17 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018217 MONDO:0012496 True Koolen-de Vries syndrome due to a point mutation Koolen-de Vries syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018218 MONDO:0024237 True autosomal recessive cerebral atrophy inherited neurodegenerative disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018221 MONDO:0015193 True immune hydrops fetalis hydrops fetalis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018221 MONDO:0015193 True immune hydrops fetalis hydrops fetalis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018223 MONDO:0000430 True systemic Epstein-Barr virus-positive T-cell lymphoproliferative disease of childhood mature T-cell and NK-cell non-Hodgkin lymphoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0018223 MONDO:0000621 True systemic Epstein-Barr virus-positive T-cell lymphoproliferative disease of childhood immune system cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0018223 MONDO:0003659 True systemic Epstein-Barr virus-positive T-cell lymphoproliferative disease of childhood pediatric lymphoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0018223 MONDO:0003659 True systemic Epstein-Barr virus-positive T-cell lymphoproliferative disease of childhood pediatric lymphoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0018223 MONDO:0006188 True systemic Epstein-Barr virus-positive T-cell lymphoproliferative disease of childhood EBV-positive T-cell lymphoproliferative disorder of childhood UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018223 MONDO:0017343 True systemic Epstein-Barr virus-positive T-cell lymphoproliferative disease of childhood Epstein-Barr virus-associated malignant lymphoproliferative disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018224 MONDO:0006188 True hydroa vacciniforme-like lymphoma EBV-positive T-cell lymphoproliferative disorder of childhood UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018224 MONDO:0017343 True hydroa vacciniforme-like lymphoma Epstein-Barr virus-associated malignant lymphoproliferative disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018225 MONDO:0018905 True ALK-positive large B-cell lymphoma diffuse large B-cell lymphoma UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018226 MONDO:0020065 True infantile epileptic-dyskinetic encephalopathy combined dystonia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018227 MONDO:0015491 True hypocomplementemic urticarial vasculitis immune complex mediated vasculitis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018228 MONDO:0018234 True bipartite talus dysostosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018229 MONDO:0019810 True Stevens-Johnson syndrome toxic epidermal necrolysis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018233 MONDO:0019690 True otopalatodigital syndrome spectrum disorder filamin-related bone disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018234 MONDO:0005497 True dysostosis bone development disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0018237 MONDO:0018234 True acrofacial dysostosis dysostosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0018244 MONDO:0020075 True obesity due to SIM1 deficiency hereditary non-syndromic obesity UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018247 MONDO:0015327 True CADDS developmental anomaly of metabolic origin UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018247 MONDO:0019046 True CADDS leukodystrophy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018247 MONDO:0019053 True CADDS peroxisomal disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018248 MONDO:0015159 True intellectual disability-seizures-macrocephaly-obesity syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018250 MONDO:0017666 True diffuse palmoplantar keratoderma with painful fissures diffuse palmoplantar keratoderma UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018252 MONDO:0017672 True focal palmoplantar keratoderma with joint keratoses focal palmoplantar keratoderma UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018253 MONDO:0015159 True intellectual disability-facial dysmorphism-hand anomalies syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018256 MONDO:0018874 True acute myeloid leukemia with t(8;16)(p11;p13) translocation acute myeloid leukemia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018257 MONDO:0020508 True familial syringomyelia primary syringomyelia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018263 MONDO:0016677 True fetal carbamazepine syndrome toxic or drug-related embryofetopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018264 MONDO:0018910 True oculocutaneous albinism type 6 oculocutaneous albinism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0018266 MONDO:0020065 True ataxia - telangiectasia variant combined dystonia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018268 MONDO:0020117 True Medich giant platelet syndrome alpha granule disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018269 MONDO:0020117 True white platelet syndrome alpha granule disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018270 MONDO:0012817 True extraskeletal Ewing sarcoma Ewing sarcoma UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0018270 MONDO:0018078 True extraskeletal Ewing sarcoma soft tissue sarcoma UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018225 MONDO:0018905 True ALK-positive large B-cell lymphoma diffuse large B-cell lymphoma UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018229 MONDO:0002254 True Stevens-Johnson syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0018237 MONDO:0018234 True acrofacial dysostosis dysostosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0018264 MONDO:0018910 True oculocutaneous albinism type 6 oculocutaneous albinism UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0018270 MONDO:0012817 True extraskeletal Ewing sarcoma Ewing sarcoma UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0018270 MONDO:0018078 True extraskeletal Ewing sarcoma soft tissue sarcoma UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018270 MONDO:0021039 True extraskeletal Ewing sarcoma extraskeletal Ewing sarcoma/peripheral primitive neuroectodermal tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0018271 MONDO:0005462 True peripheral primitive neuroectodermal tumor primitive neuroectodermal tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018271 MONDO:0021038 True peripheral primitive neuroectodermal tumor Ewing sarcoma/peripheral primitive neuroectodermal tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018271 MONDO:0021089 True peripheral primitive neuroectodermal tumor peripheral nervous system cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018273 MONDO:0015159 True XYLT1-congenital disorder of glycosylation multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018273 MONDO:0015286 True XYLT1-congenital disorder of glycosylation congenital disorder of glycosylation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018273 MONDO:0015327 True XYLT1-congenital disorder of glycosylation developmental anomaly of metabolic origin UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018274 MONDO:0006025 True GM3 synthase deficiency autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0018274 MONDO:0017748 True GM3 synthase deficiency inborn disorder of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018274 MONDO:0018117 True GM3 synthase deficiency disorder of phospholipids, sphingolipids and fatty acids biosynthesis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018276 MONDO:0019950 True muscular dystrophy-dystroglycanopathy congenital muscular dystrophy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0018278 MONDO:0015286 True congenital muscular dystrophy with intellectual disability congenital disorder of glycosylation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018278 MONDO:0018276 True congenital muscular dystrophy with intellectual disability muscular dystrophy-dystroglycanopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018280 MONDO:0018276 True muscle-eye-brain disease with bilateral multicystic leucodystrophy muscular dystrophy-dystroglycanopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018280 MONDO:0018869 True muscle-eye-brain disease with bilateral multicystic leucodystrophy cobblestone lissencephaly UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018281 MONDO:0019950 True congenital muscular dystrophy with hyperlaxity congenital muscular dystrophy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018282 MONDO:0016139 True qualitative or quantitative defects of alpha-dystroglycan qualitative or quantitative protein defects in neuromuscular diseases UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018298 MONDO:0019707 True multicentric osteolysis-nodulosis-arthropathy spectrum primary osteolysis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018301 MONDO:0006030 True interstitial cystitis chronic cystitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0018304 MONDO:0019751 True Schnitzler syndrome autoinflammatory syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018305 MONDO:0005910 True chronic granulomatous disease phagocyte bactericidal dysfunction UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0018306 MONDO:0017305 True Griscelli syndrome syndromic oculocutaneous albinism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018307 MONDO:0015547 True neurodegeneration with brain iron accumulation hereditary dementia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018307 MONDO:0024237 True neurodegeneration with brain iron accumulation inherited neurodegenerative disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018308 MONDO:0024477 True liver mesenchymal hamartoma liver and intrahepatic bile duct neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018310 MONDO:0002637 True Langerhans cell histiocytosis histiocytosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0018310 MONDO:0020082 True Langerhans cell histiocytosis dendritic cell tumor UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018311 MONDO:0019289 True acromelanosis hyperpigmentation of the skin UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018312 MONDO:0000308 True histoplasmosis primary systemic mycosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0018314 MONDO:0015653 True infantile-onset mesial temporal lobe epilepsy with severe cognitive regression monogenic epilepsy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018314 MONDO:0020071 True infantile-onset mesial temporal lobe epilepsy with severe cognitive regression infantile epilepsy syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018316 MONDO:0024237 True fatal post-viral neurodegenerative disorder inherited neurodegenerative disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018319 MONDO:0020127 True familial episodic pain syndrome hereditary peripheral neuropathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018322 MONDO:0010327 True HSD10 disease, infantile type HSD10 mitochondrial disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018323 MONDO:0010327 True HSD10 disease, neonatal type HSD10 mitochondrial disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018324 MONDO:0009688 True adult-onset myasthenia gravis myasthenia gravis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018325 MONDO:0009688 True juvenile myasthenia gravis myasthenia gravis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018326 MONDO:0009688 True transient neonatal myasthenia gravis myasthenia gravis UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018326 MONDO:0018356 True transient neonatal myasthenia gravis secondary neonatal autoimmune disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018327 MONDO:0002604 True glomus tumor pericytic neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0018301 MONDO:0006030 True interstitial cystitis chronic cystitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0018308 MONDO:0024478 True liver mesenchymal hamartoma mesenchymal hamartoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018326 MONDO:0009688 True transient neonatal myasthenia gravis myasthenia gravis UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018327 MONDO:0002604 True glomus tumor pericytic neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0018330 MONDO:0006087 True mucinous adenocarcinoma of the appendix appendix adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018332 MONDO:0009282 True multiple acyl-CoA dehydrogenase deficiency, severe neonatal type multiple acyl-CoA dehydrogenase deficiency UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018333 MONDO:0009282 True multiple acyl-CoA dehydrogenase deficiency, mild type multiple acyl-CoA dehydrogenase deficiency UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018338 MONDO:0015977 True activated PI3K-delta syndrome agammaglobulinemia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018341 MONDO:0015159 True 3q27.3 microdeletion syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018342 MONDO:0015369 True Joubert syndrome with Jeune asphyxiating thoracic dystrophy Joubert syndrome and related disorders UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018342 MONDO:0015461 True Joubert syndrome with Jeune asphyxiating thoracic dystrophy short rib-polydactyly syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018343 MONDO:0000995 True periodic paralysis with later-onset distal motor neuropathy familial periodic paralysis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018343 MONDO:0016387 True periodic paralysis with later-onset distal motor neuropathy mitochondrial oxidative phosphorylation disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018343 MONDO:0019056 True periodic paralysis with later-onset distal motor neuropathy neuromuscular disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018346 MONDO:0019052 True ferro-cerebro-cutaneous syndrome inborn errors of metabolism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018346 MONDO:0024237 True ferro-cerebro-cutaneous syndrome inherited neurodegenerative disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018349 MONDO:0017740 True MAN1B1-congenital disorder of glycosylation disorder of protein N-glycosylation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018352 MONDO:0005096 True squamous cell carcinoma of penis squamous cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0018352 MONDO:0006360 True squamous cell carcinoma of penis penile carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0018354 MONDO:0015770 True Prader-Willi-like syndrome congenital hypogonadotropic hypogonadism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018355 MONDO:0018354 True SIM1-related Prader-Willi-like syndrome Prader-Willi-like syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018357 MONDO:0018356 True neonatal antiphospholipid syndrome secondary neonatal autoimmune disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018358 MONDO:0018356 True neonatal autoimmune hemolytic anemia secondary neonatal autoimmune disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018359 MONDO:0018356 True neonatal dermatomyositis secondary neonatal autoimmune disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018360 MONDO:0018356 True neonatal lupus erythematosus secondary neonatal autoimmune disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018361 MONDO:0018356 True neonatal scleroderma secondary neonatal autoimmune disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018363 MONDO:0019287 True focal facial dermal dysplasia ectodermal dysplasia syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING -MONDO:0018364 MONDO:0002229 True malignant epithelial tumor of ovary ovarian epithelial tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0018364 MONDO:0004993 True malignant epithelial tumor of ovary carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0018364 MONDO:0008170 True malignant epithelial tumor of ovary ovarian cancer UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0018365 MONDO:0008170 True malignant non-epithelial tumor of ovary ovarian cancer UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018352 MONDO:0005096 True squamous cell carcinoma of penis squamous cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0018352 MONDO:0006360 True squamous cell carcinoma of penis penile carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0018364 MONDO:0002229 True malignant epithelial tumor of ovary ovarian epithelial tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0018364 MONDO:0008170 True malignant epithelial tumor of ovary ovarian cancer UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0018368 MONDO:0006386 True primary peritoneal serous/papillary carcinoma primary peritoneal serous adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018369 MONDO:0003821 True immature ovarian teratoma ovarian biphasic or triphasic teratoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0018370 MONDO:0016108 True KLHL9-related early-onset distal myopathy autosomal dominant distal myopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018371 MONDO:0018949 True nebulin-related early-onset distal myopathy distal myopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018373 MONDO:0005380 True avascular necrosis osteonecrosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018374 MONDO:0018373 True secondary avascular necrosis avascular necrosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018375 MONDO:0018374 True traumatic avascular necrosis secondary avascular necrosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018376 MONDO:0018374 True secondary non-traumatic avascular necrosis secondary avascular necrosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018378 MONDO:0018374 True osteonecrosis of the jaw secondary avascular necrosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018379 MONDO:0018373 True primary avascular necrosis avascular necrosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018380 MONDO:0018379 True idiopathic avascular necrosis primary avascular necrosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018381 MONDO:0005380 True osteochondrosis osteonecrosis UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0018382 MONDO:0005380 True epiphysiolysis of the hip osteonecrosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018416 MONDO:0015150 True autosomal recessive spastic paraplegia type 59 complex hereditary spastic paraplegia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018417 MONDO:0015150 True autosomal recessive spastic paraplegia type 60 complex hereditary spastic paraplegia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018418 MONDO:0015150 True autosomal recessive spastic paraplegia type 66 complex hereditary spastic paraplegia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018419 MONDO:0015150 True autosomal recessive spastic paraplegia type 67 complex hereditary spastic paraplegia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018421 MONDO:0015150 True autosomal recessive spastic paraplegia type 69 complex hereditary spastic paraplegia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018422 MONDO:0015150 True autosomal recessive spastic paraplegia type 70 complex hereditary spastic paraplegia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018423 MONDO:0015149 True autosomal recessive spastic paraplegia type 71 pure hereditary spastic paraplegia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018424 MONDO:0004069 True inherited lipoic acid biosynthesis defect inborn mitochondrial metabolism disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018426 MONDO:0016362 True AXIN2-related attenuated familial adenomatous polyposis attenuated familial adenomatous polyposis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018428 MONDO:0015159 True 9q31.1q31.3 microdeletion syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018428 MONDO:0016908 True 9q31.1q31.3 microdeletion syndrome partial monosomy of the long arm of chromosome 9 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018429 MONDO:0015159 True 14q24.1q24.3 microdeletion syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018429 MONDO:0016912 True 14q24.1q24.3 microdeletion syndrome partial deletion of the long arm of chromosome 14 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018430 MONDO:0020022 True partial corpus callosum agenesis-cerebellar vermis hypoplasia with posterior fossa cysts syndrome central nervous system malformation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018431 MONDO:0015364 True cold-induced sweating syndrome - hyperthermia spectrum hereditary sensory and autonomic neuropathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018432 MONDO:0021154 True lichen myxedematosus dermis disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018433 MONDO:0018874 True acute myeloid leukemia with t(6;9)(p23;q34) acute myeloid leukemia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018434 MONDO:0018874 True acute myeloid leukemia with t(9;11)(p22;q23) acute myeloid leukemia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018435 MONDO:0018874 True acute myeloid leukemia with inv3(p21;q26.2) or t(3;3)(p21;q26.2) acute myeloid leukemia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018436 MONDO:0018874 True megakaryoblastic acute myeloid leukemia with t(1;22)(p13;q13) acute myeloid leukemia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018437 MONDO:0018874 True acute myeloid leukemia with NPM1 somatic mutations acute myeloid leukemia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018440 MONDO:0015827 True autosomal recessive distal renal tubular acidosis distal renal tubular acidosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018442 MONDO:0016677 True acitretin/etretinate embryopathy toxic or drug-related embryofetopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018443 MONDO:0015159 True FBLN1-related developmental delay-central nervous system anomaly-syndactyly syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018445 MONDO:0019716 True global developmental delay - lung cysts - overgrowth - Wilms tumor syndrome overgrowth syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018446 MONDO:0015244 True autosomal recessive cerebellar ataxia - epilepsy - intellectual disability syndrome autosomal recessive cerebellar ataxia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018446 MONDO:0015653 True autosomal recessive cerebellar ataxia - epilepsy - intellectual disability syndrome monogenic epilepsy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018373 MONDO:0005380 True avascular necrosis osteonecrosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018439 MONDO:0000702 True eosinophilic colitis microscopic colitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018447 MONDO:0000631 True chondromyxoid fibroma bone benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018447 MONDO:0024470 True chondromyxoid fibroma benign chondrogenic neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018449 MONDO:0005086 True acquired cystic disease-associated renal cell carcinoma renal cell carcinoma UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018450 MONDO:0024257 True spinal muscular atrophy with respiratory distress type 2 hereditary motor neuron disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018453 MONDO:0015356 True familial atypical multiple mole melanoma syndrome hereditary neoplastic syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018456 MONDO:0011429 True polyarticular juvenile idiopathic arthritis juvenile idiopathic arthritis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018458 MONDO:0001566 True familial hypocalciuric hypercalcemia hypercalcemia disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0018458 MONDO:0017014 True familial hypocalciuric hypercalcemia interstitial lung disease specific to childhood UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018458 MONDO:0019052 True familial hypocalciuric hypercalcemia inborn errors of metabolism UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0018459 MONDO:0010613 True isolated glycerol kinase deficiency inborn glycerol kinase deficiency UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018461 MONDO:0007113 True Angelman syndrome due to a point mutation Angelman syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018462 MONDO:0007113 True Angelman syndrome due to imprinting defect in 15q11-q13 Angelman syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018463 MONDO:0010395 True mild phosphoribosylpyrophosphate synthetase superactivity phosphoribosylpyrophosphate synthetase superactivity UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018464 MONDO:0010395 True severe phosphoribosylpyrophosphate synthetase superactivity phosphoribosylpyrophosphate synthetase superactivity UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018465 MONDO:0000569 True insulin autoimmune syndrome autoimmune disorder of endocrine system UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0018465 MONDO:0005803 True insulin autoimmune syndrome hyperinsulinemic hypoglycemia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0018468 MONDO:0018438 True proton-pump inhibitor-responsive esophageal eosinophilia eosinophilic gastrointestinal disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018473 MONDO:0001336 True hyperlipoproteinemia type 3 familial hyperlipidemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0018474 MONDO:0015159 True 13q12.3 microdeletion syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018474 MONDO:0016911 True 13q12.3 microdeletion syndrome partial deletion of the long arm of chromosome 13 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018474 MONDO:0019268 True 13q12.3 microdeletion syndrome epidermal disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018475 MONDO:0015547 True PRKAR1B-related neurodegenerative dementia with intermediate filaments hereditary dementia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018475 MONDO:0024237 True PRKAR1B-related neurodegenerative dementia with intermediate filaments inherited neurodegenerative disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018476 MONDO:0020065 True dystonia-aphonia syndrome combined dystonia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018477 MONDO:0005560 True bilirubin encephalopathy brain disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0018477 MONDO:0017755 True bilirubin encephalopathy inborn disorder of bilirubin metabolism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018479 MONDO:0005523 True congenital adrenal hyperplasia steroid inherited metabolic disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0018479 MONDO:0015129 True congenital adrenal hyperplasia chronic primary adrenal insufficiency UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0018479 MONDO:0015514 True congenital adrenal hyperplasia hereditary endocrine growth disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018479 MONDO:0015898 True congenital adrenal hyperplasia adrenogenital syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018480 MONDO:0019086 True carcinoma of esophagus, salivary gland type carcinoma of esophagus UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018453 MONDO:0015356 True familial atypical multiple mole melanoma syndrome hereditary neoplastic syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018481 MONDO:0005617 True undifferentiated carcinoma of esophagus undifferentiated carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018485 MONDO:0009290 True glycogen storage disease due to acid maltase deficiency, late-onset glycogen storage disease II UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018487 MONDO:0028226 True autosomal recessive severe congenital neutropenia due to CXCR2 deficiency autosomal recessive severe congenital neutropenia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018490 MONDO:0015159 True cono-spondylar dysplasia multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018492 MONDO:0003008 True hereditary clear cell renal cell carcinoma hereditary renal cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0018492 MONDO:0003008 True hereditary clear cell renal cell carcinoma hereditary renal cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0018492 MONDO:0005005 True hereditary clear cell renal cell carcinoma clear cell renal carcinoma UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0018493 MONDO:0003847 True malignant hyperthermia of anesthesia hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0018493 MONDO:0019119 True malignant hyperthermia of anesthesia muscular channelopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018494 MONDO:0015159 True microcephaly-short stature-intellectual disability-facial dysmorphism syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018495 MONDO:0019118 True X-linked intellectual disability-limb spasticity-retinal dystrophy-diabetes insipidus syndrome inherited retinal dystrophy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018495 MONDO:0019236 True X-linked intellectual disability-limb spasticity-retinal dystrophy-diabetes insipidus syndrome inborn disorder of purine metabolism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018498 MONDO:0018089 True double outlet right ventricle with subaortic or doubly committed ventricular septal defect double outlet right ventricle UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018499 MONDO:0018089 True double outlet right ventricle with atrioventricular septal defect, pulmonary stenosis, heterotaxy double outlet right ventricle UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018504 MONDO:0004950 True undifferentiated carcinoma of stomach gastric carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018504 MONDO:0005617 True undifferentiated carcinoma of stomach undifferentiated carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018509 MONDO:0005096 True squamous cell carcinoma of the small intestine squamous cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018509 MONDO:0005522 True squamous cell carcinoma of the small intestine small intestine carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018510 MONDO:0002883 True small intestine neuroendocrine neoplasm intestinal neuroendocrine neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0018510 MONDO:0004251 True small intestine neuroendocrine neoplasm small intestine neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0018513 MONDO:0002032 True squamous cell carcinoma of colon colon carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0018510 MONDO:0004251 True small intestine neuroendocrine neoplasm small intestine neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0018513 MONDO:0002032 True squamous cell carcinoma of colon colon carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0018513 MONDO:0006165 True squamous cell carcinoma of colon colorectal squamous cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018515 MONDO:0006165 True squamous cell carcinoma of rectum colorectal squamous cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018515 MONDO:0044937 True squamous cell carcinoma of rectum rectal carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018521 MONDO:0005096 True squamous cell carcinoma of pancreas squamous cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0018523 MONDO:0002809 True pancreatic mucinous cystadenoma pancreatic cystadenoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0018525 MONDO:0005192 True solid pseudopapillary carcinoma of pancreas exocrine pancreatic carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0018531 MONDO:0002691 True carcinoma of liver and intrahepatic biliary tract liver cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018531 MONDO:0006181 True carcinoma of liver and intrahepatic biliary tract digestive system carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018533 MONDO:0018531 True undifferentiated carcinoma of liver and intrahepatic biliary tract carcinoma of liver and intrahepatic biliary tract UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018534 MONDO:0018531 True squamous cell carcinoma of liver and intrahepatic biliary tract carcinoma of liver and intrahepatic biliary tract UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018535 MONDO:0018531 True biliary cystadenocarcinoma carcinoma of liver and intrahepatic biliary tract UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018536 MONDO:0018918 True adenocarcinoma of gallbladder and extrahepatic biliary tract carcinoma of gallbladder and extrahepatic biliary tract UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018537 MONDO:0018918 True squamous cell carcinoma of gallbladder and extrahepatic biliary tract carcinoma of gallbladder and extrahepatic biliary tract UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018540 MONDO:0019751 True PFAPA syndrome autoinflammatory syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018541 MONDO:0015900 True familial hypoaldosteronism hypoaldosteronism disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018542 MONDO:0015134 True severe congenital neutropenia constitutional neutropenia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018543 MONDO:0000426 True autosomal dominant hypocalcemia autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0018543 MONDO:0016390 True autosomal dominant hypocalcemia familial hypoparathyroidism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS -MONDO:0018544 MONDO:0000425 True adrenoleukodystrophy X-linked disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0018544 MONDO:0015547 True adrenoleukodystrophy hereditary dementia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018544 MONDO:0019046 True adrenoleukodystrophy leukodystrophy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED -MONDO:0018551 MONDO:0018565 True patent urachus congenital urachal anomaly UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018552 MONDO:0018565 True urachal sinus congenital urachal anomaly UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018553 MONDO:0018565 True urachal diverticulum congenital urachal anomaly UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018555 MONDO:0002146 True hypogonadotropic hypogonadism hypogonadism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0018556 MONDO:0018215 True Lambert-Eaton myasthenic syndrome paraneoplastic neurologic syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018559 MONDO:0019356 True fetal lower urinary tract obstruction urogenital tract malformation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018564 MONDO:0016885 True 3p25.3 microdeletion syndrome partial deletion of the short arm of chromosome 3 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018566 MONDO:0018230 True short stature-advanced bone age-early-onset osteoarthritis syndrome skeletal dysplasia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018567 MONDO:0018993 True autosomal dominant Charcot-Marie-Tooth disease type 2 due to TFG mutation Charcot-Marie-Tooth disease type 2 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018570 MONDO:0015327 True hypophosphatasia developmental anomaly of metabolic origin UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018571 MONDO:0016904 True contractures-developmental delay-Pierre Robin syndrome partial deletion of the long arm of chromosome 5 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018572 MONDO:0015159 True severe intellectual disability-hypotonia-strabismus-coarse face-planovalgus syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018576 MONDO:0016387 True non-progressive predominantly posterior cavitating leukoencephalopathy with peripheral neuropathy mitochondrial oxidative phosphorylation disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018576 MONDO:0019046 True non-progressive predominantly posterior cavitating leukoencephalopathy with peripheral neuropathy leukodystrophy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018576 MONDO:0020127 True non-progressive predominantly posterior cavitating leukoencephalopathy with peripheral neuropathy hereditary peripheral neuropathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018581 MONDO:0008491 True progressive encephalomyelitis with rigidity and myoclonus stiff-person syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018586 MONDO:0019268 True zinc-responsive necrolytic acral erythema epidermal disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018587 MONDO:0015923 True non-recovering obstetric brachial plexus lesion acquired peripheral neuropathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018588 MONDO:0019065 True ALECT2 amyloidosis amyloidosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018589 MONDO:0019065 True AApoAIV amyloidosis amyloidosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0018590 MONDO:0019065 True ABeta2M amyloidosis amyloidosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0018591 MONDO:0018634 True ITM2B amyloidosis hereditary amyloidosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018591 MONDO:0024237 True ITM2B amyloidosis inherited neurodegenerative disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018592 MONDO:0018593 True cutaneous polyarteritis nodosa primary polyarteritis nodosa UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018593 MONDO:0019170 True primary polyarteritis nodosa polyarteritis nodosa UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018594 MONDO:0019170 True secondary polyarteritis nodosa polyarteritis nodosa UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018595 MONDO:0018593 True single-organ polyarteritis nodosa primary polyarteritis nodosa UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018596 MONDO:0018593 True systemic polyarteritis nodosa primary polyarteritis nodosa UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018604 MONDO:0018630 True familial colorectal cancer type X hereditary nonpolyposis colon cancer UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018605 MONDO:0019214 True disorders of pentose/polyol metabolism inborn carbohydrate metabolic disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018610 MONDO:0020377 True early-onset posterior subcapsular cataract early-onset partial cataract UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018612 MONDO:0005420 True congenital hypothyroidism hypothyroidism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0018613 MONDO:0019065 True AH amyloidosis amyloidosis UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0018614 MONDO:0020070 True undetermined early-onset epileptic encephalopathy neonatal epilepsy syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018614 MONDO:0020071 True undetermined early-onset epileptic encephalopathy infantile epilepsy syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018615 MONDO:0015530 True hemicrania continua trigeminal autonomic cephalalgia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018621 MONDO:0017594 True lymphoplasmacytic lymphoma without IgM production indolent B-cell non-Hodgkin lymphoma UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018625 MONDO:0008491 True classic stiff person syndrome stiff-person syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018626 MONDO:0000827 True paratyphoid fever salmonellosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0018628 MONDO:0017341 True HIV-associated cancer virus associated tumor UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018629 MONDO:0008491 True focal stiff limb syndrome stiff-person syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018630 MONDO:0015356 True hereditary nonpolyposis colon cancer hereditary neoplastic syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018632 MONDO:0015159 True 11q22.2q22.3 microdeletion syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018632 MONDO:0016910 True 11q22.2q22.3 microdeletion syndrome partial deletion of the long arm of chromosome 11 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018633 MONDO:0015159 True 20q11.2 microdeletion syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018633 MONDO:0016918 True 20q11.2 microdeletion syndrome partial deletion of the long arm of chromosome 20 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018635 MONDO:0005380 True idiopathic phalangeal acro-osteolysis osteonecrosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018638 MONDO:0006510 True pseudohypoaldosteronism renal tubular transport disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0018639 MONDO:0019054 True caudal regression-sirenomelia spectrum congenital limb malformation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018640 MONDO:0018882 True secondary vasculitis vasculitis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018642 MONDO:0018814 True NIK deficiency non-SCID combined immunodeficiency UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018645 MONDO:0017287 True IgG4-related sclerosing cholangitis IgG4-related disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018645 MONDO:0018646 True IgG4-related sclerosing cholangitis sclerosing cholangitis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018646 MONDO:0004789 True sclerosing cholangitis cholangitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0018647 MONDO:0018646 True secondary sclerosing cholangitis sclerosing cholangitis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018653 MONDO:0016362 True Polymerase proofreading-related adenomatous polyposis attenuated familial adenomatous polyposis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018654 MONDO:0016105 True idiopathic dropped head syndrome acquired skeletal muscle disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018656 MONDO:0100309 True tremor-ataxia-central hypomyelination syndrome hereditary ataxia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018658 MONDO:0015159 True 19p13.3 microduplication syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018658 MONDO:0018659 True 19p13.3 microduplication syndrome partial duplication of the short arm of chromosome 19 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018659 MONDO:0016937 True partial duplication of the short arm of chromosome 19 partial duplication of chromosome 19 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018662 MONDO:0015262 True autosomal recessive brachyolmia brachyolmia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018663 MONDO:0016763 True regressive spondylometaphyseal dysplasia spondylometaphyseal dysplasia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING -MONDO:0018664 MONDO:0019512 True ectopia cordis congenital heart malformation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018542 MONDO:0015134 True severe congenital neutropenia constitutional neutropenia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018544 MONDO:0019046 True adrenoleukodystrophy leukodystrophy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS +MONDO:0018555 MONDO:0002146 True hypogonadotropic hypogonadism hypogonadism UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0018604 MONDO:0018630 True familial colorectal cancer type X hereditary nonpolyposis colon cancer UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018612 MONDO:0005420 True congenital hypothyroidism hypothyroidism UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0018613 MONDO:0019065 True AH amyloidosis amyloidosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0018616 MONDO:0005283 True central serous chorioretinopathy retinal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018630 MONDO:0015356 True hereditary nonpolyposis colon cancer hereditary neoplastic syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018634 MONDO:0019065 True hereditary amyloidosis amyloidosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018646 MONDO:0004789 True sclerosing cholangitis cholangitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0018660 MONDO:0002242 True hemophilia coagulation protein disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018666 MONDO:0005564 True hepatoblastoma embryonal neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0018667 MONDO:0002037 True pleural empyema pleural disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0018671 MONDO:0017287 True IgG4-related kidney disease IgG4-related disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018672 MONDO:0017287 True IgG4-related aortitis IgG4-related disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018673 MONDO:0017287 True IgG4-related pachymeningitis IgG4-related disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018674 MONDO:0017287 True IgG4-related submandibular gland disease IgG4-related disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018675 MONDO:0017287 True IgG4-related ophthalmic disorder IgG4-related disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018676 MONDO:0017287 True eosinophilic angiocentric fibrosis IgG4-related disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018677 MONDO:0019512 True visceral heterotaxy congenital heart malformation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018678 MONDO:0005570 True polyclonal hyperviscosity syndrome hematologic disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018679 MONDO:0017287 True primary cutaneous plasmacytosis IgG4-related disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018680 MONDO:0017287 True cutaneous pseudolymphoma IgG4-related disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018681 MONDO:0015159 True neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-hip dysplasia syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018681 MONDO:0018234 True neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-hip dysplasia syndrome dysostosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018683 MONDO:0019269 True acquired ichthyosis ichthyosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018688 MONDO:0019337 True anti-p200 pemphigoid autoimmune bullous skin disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018689 MONDO:0004959 True plasma cell leukemia plasma cell neoplasm UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0018690 MONDO:0002254 True Holmes-Adie syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0018692 MONDO:0018926 True variably protease-sensitive prionopathy human prion disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018695 MONDO:0005812 True avian influenza influenza UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0018697 MONDO:0015159 True 1p35.2 microdeletion syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018697 MONDO:0016883 True 1p35.2 microdeletion syndrome partial deletion of the short arm of chromosome 1 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018705 MONDO:0024237 True infantile-onset axonal motor and sensory neuropathy-optic atrophy-neurodegenerative syndrome inherited neurodegenerative disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018706 MONDO:0016387 True syndromic sensorineural deafness due to combined oxidative phosphorylation defect mitochondrial oxidative phosphorylation disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018710 MONDO:0015159 True megalencephaly-severe kyphoscoliosis-overgrowth syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018710 MONDO:0019716 True megalencephaly-severe kyphoscoliosis-overgrowth syndrome overgrowth syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018711 MONDO:0015159 True intellectual disability-muscle weakness-short stature-facial dysmorphism syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018677 MONDO:0002254 True visceral heterotaxy syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0018680 MONDO:0005093 True cutaneous pseudolymphoma skin disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018683 MONDO:0019269 True acquired ichthyosis ichthyosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018687 MONDO:0004976 True progressive muscular atrophy amyotrophic lateral sclerosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0018689 MONDO:0004959 True plasma cell leukemia plasma cell neoplasm UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0018690 MONDO:0002254 True Holmes-Adie syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0018712 MONDO:0021121 True composite hemangioendothelioma hemangioendothelioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018713 MONDO:0021121 True retiform hemangioendothelioma hemangioendothelioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018714 MONDO:0021121 True primary intralymphatic angioendothelioma hemangioendothelioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018715 MONDO:0006500 True congenital hemangioma hemangioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018716 MONDO:0018715 True partially involuting congenital hemangioma congenital hemangioma UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018717 MONDO:0002013 True mixed cystic lymphatic malformation lymphangioma UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018724 MONDO:0015159 True X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018724 MONDO:0020022 True X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome central nervous system malformation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018725 MONDO:0015159 True corpus callosum agenesis-macrocephaly-hypertelorism syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018733 MONDO:0013578 True intellectual disability syndrome due to a DYRK1A point mutation DYRK1A-related intellectual disability syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018734 MONDO:0003110 True verrucous hemangioma skin hemangioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0018735 MONDO:0002013 True multifocal lymphangioendotheliomatosis-thrombocytopenia syndrome lymphangioma UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018746 MONDO:0019337 True mucous membrane pemphigoid autoimmune bullous skin disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0018747 MONDO:0006541 True acquired epidermolysis bullosa epidermolysis bullosa UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0018747 MONDO:0019337 True acquired epidermolysis bullosa autoimmune bullous skin disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0018748 MONDO:0019337 True linear IgA Dermatosis autoimmune bullous skin disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018749 MONDO:0017145 True hereditary persistence of fetal hemoglobin-beta-thalassemia syndrome beta-thalassemia and related diseases UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018756 MONDO:0007179 True euthyroid Graves orbitopathy autoimmune disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0018759 MONDO:0016106 True childhood-onset progressive contractures-limb-girdle weakness-muscle dystrophy syndrome progressive muscular dystrophy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018760 MONDO:0015159 True DeSanto-Shinawi syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018761 MONDO:0018078 True SMARCA4-deficient sarcoma of thorax soft tissue sarcoma UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018762 MONDO:0019824 True non-acquired combined pituitary hormone deficiency non-acquired pituitary hormone deficiency UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018763 MONDO:0020022 True tubulinopathy-associated dysgyria central nervous system malformation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018768 MONDO:0016168 True familial cold autoinflammatory syndrome cryopyrin-associated periodic syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018769 MONDO:0005707 True isosporiasis coccidiosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0018770 MONDO:0005308 True Jeune syndrome ciliopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0018770 MONDO:0015461 True Jeune syndrome short rib-polydactyly syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018770 MONDO:0015962 True Jeune syndrome inherited renal tubular disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018772 MONDO:0002254 True Joubert syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0018772 MONDO:0005308 True Joubert syndrome ciliopathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0018773 MONDO:0015362 True autosomal dominant distal axonal motor neuropathy-myofibrillar myopathy syndrome neuronopathy, distal hereditary motor, autosomal dominant UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018773 MONDO:0018943 True autosomal dominant distal axonal motor neuropathy-myofibrillar myopathy syndrome myofibrillar myopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018774 MONDO:0019270 True erythrokeratodermia-cardiomyopathy syndrome erythrokeratoderma UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018776 MONDO:0015626 True demyelinating hereditary motor and sensory neuropathy Charcot-Marie-Tooth disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018777 MONDO:0019280 True autosomal dominant preaxial polydactyly-upperback hypertrichosis syndrome hypertrichosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018778 MONDO:0015626 True intermediate Charcot-Marie-Tooth disease Charcot-Marie-Tooth disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0018781 MONDO:0017666 True KID syndrome diffuse palmoplantar keratoderma UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018781 MONDO:0019287 True KID syndrome ectodermal dysplasia syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING -MONDO:0018794 MONDO:0021181 True cytosolic phospholipase-A2 alpha deficiency associated bleeding disorder inherited blood coagulation disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018800 MONDO:0018555 True Kallmann syndrome hypogonadotropic hypogonadism UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0018801 MONDO:0003150 True congenital bilateral absence of vas deferens male reproductive system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0018801 MONDO:0003847 True congenital bilateral absence of vas deferens hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0018804 MONDO:0015762 True MYO5B-related progressive familial intrahepatic cholestasis progressive familial intrahepatic cholestasis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018805 MONDO:0002887 True bile duct cyst bile duct disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0018810 MONDO:0043009 True lethal hydranencephaly-diaphragmatic hernia syndrome hereditary lethal multiple congenital anomalies/dysmorphic syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018812 MONDO:0016362 True MSH3-related attenuated familial adenomatous polyposis attenuated familial adenomatous polyposis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018813 MONDO:0017595 True high grade B-cell lymphoma with MYC and/ or BCL2 and/or BCL6 rearrangement aggressive B-cell non-Hodgkin lymphoma UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018814 MONDO:0015131 True non-SCID combined immunodeficiency combined immunodeficiency UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018815 MONDO:0019060 True aneurysmal bone cyst bone neoplasm UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018816 MONDO:0018646 True isolated neonatal sclerosing cholangitis sclerosing cholangitis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018818 MONDO:0016218 True facial diplegia with paresthesias Guillain-Barre syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018820 MONDO:0024237 True recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome inherited neurodegenerative disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018822 MONDO:0015159 True global developmental delay-visual anomalies-progressive cerebellar atrophy-truncal hypotonia syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018822 MONDO:0020022 True global developmental delay-visual anomalies-progressive cerebellar atrophy-truncal hypotonia syndrome central nervous system malformation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018823 MONDO:0015159 True X-linked intellectual disability-global development delay-facial dysmorphism-sacral caudal remnant syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018824 MONDO:0002922 True pyoderma gangrenosum pyoderma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0018824 MONDO:0019751 True pyoderma gangrenosum autoinflammatory syndrome UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018825 MONDO:0015159 True PYCR2-related microcephaly-progressive leukoencephalopathy multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018826 MONDO:0006702 True Lewis-Sumner syndrome chronic inflammatory demyelinating polyradiculoneuropathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018716 MONDO:0018715 True partially involuting congenital hemangioma congenital hemangioma UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018734 MONDO:0003110 True verrucous hemangioma skin hemangioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0018740 MONDO:0001117 True drug-induced methemoglobinemia methemoglobinemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018747 MONDO:0006541 True acquired epidermolysis bullosa epidermolysis bullosa UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0018772 MONDO:0002254 True Joubert syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0018800 MONDO:0002254 True Kallmann syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0018800 MONDO:0018555 True Kallmann syndrome hypogonadotropic hypogonadism UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0018815 MONDO:0019060 True aneurysmal bone cyst bone neoplasm UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018828 MONDO:0009626 True pseudo-TORCH syndrome 2 pseudo-TORCH syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0018829 MONDO:0010011 True familial schizencephaly schizencephaly UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018837 MONDO:0018640 True postinfectious vasculitis secondary vasculitis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018838 MONDO:0002320 True lissencephaly spectrum disorders congenital nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0018839 MONDO:0010011 True acquired schizencephaly schizencephaly UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018841 MONDO:0005523 True congenital bile acid synthesis defect steroid inherited metabolic disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0018842 MONDO:0015157 True primary effusion lymphoma human herpesvirus 8-related tumor UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018842 MONDO:0017343 True primary effusion lymphoma Epstein-Barr virus-associated malignant lymphoproliferative disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018842 MONDO:0018905 True primary effusion lymphoma diffuse large B-cell lymphoma UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018843 MONDO:0002714 True embryonal carcinoma of the central nervous system central nervous system cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0018843 MONDO:0005440 True embryonal carcinoma of the central nervous system embryonal carcinoma UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0018843 MONDO:0002714 True embryonal carcinoma of the central nervous system central nervous system cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0018843 MONDO:0005440 True embryonal carcinoma of the central nervous system embryonal carcinoma UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0018843 MONDO:0020574 True embryonal carcinoma of the central nervous system central nervous system nongerminomatous germ cell tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018844 MONDO:0018565 True urachal cyst congenital urachal anomaly UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018845 MONDO:0020122 True focal myositis acquired idiopathic inflammatory myopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018846 MONDO:0020040 True penile agenesis 46,XY disorder of sex development UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018848 MONDO:0017287 True IgG4-related retroperitoneal fibrosis IgG4-related disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018849 MONDO:0006999 True dentinogenesis imperfecta tooth disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0018850 MONDO:0003413 True proliferating trichilemmal cyst hair follicle neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018852 MONDO:0001703 True achromatopsia color vision disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0018855 MONDO:0019268 True keratosis pilaris atrophicans epidermal disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018856 MONDO:0015301 True lichen amyloidosis primary cutaneous amyloidosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018857 MONDO:0020568 True creeping myiasis cutaneous myiasis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018858 MONDO:0004907 True Graham Little-Piccardi-Lassueur syndrome alopecia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018861 MONDO:0016387 True Zellweger-like syndrome without peroxisomal anomalies mitochondrial oxidative phosphorylation disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018865 MONDO:0017672 True striate palmoplantar keratoderma focal palmoplantar keratoderma UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018866 MONDO:0002254 True Aicardi-Goutieres syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0018866 MONDO:0003778 True Aicardi-Goutieres syndrome inborn error of immunity UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0018866 MONDO:0019046 True Aicardi-Goutieres syndrome leukodystrophy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS -MONDO:0018868 MONDO:0015547 True metachromatic leukodystrophy hereditary dementia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018868 MONDO:0019046 True metachromatic leukodystrophy leukodystrophy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0018868 MONDO:0019255 True metachromatic leukodystrophy sphingolipidosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0018868 MONDO:0020127 True metachromatic leukodystrophy hereditary peripheral neuropathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018869 MONDO:0018838 True cobblestone lissencephaly lissencephaly spectrum disorders UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018870 MONDO:0005385 True arterial calcification of infancy vascular disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0018871 MONDO:0015667 True acute myelomonocytic leukemia M4 acute myeloid leukemia by FAB classification UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018872 MONDO:0015667 True acute megakaryoblastic leukemia acute myeloid leukemia by FAB classification UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018873 MONDO:0015923 True anterior cutaneous nerve entrapment syndrome acquired peripheral neuropathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018874 MONDO:0004643 True acute myeloid leukemia myeloid leukemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0018864 MONDO:0002052 True Kikuchi-Fujimoto disease lymphadenitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018868 MONDO:0019046 True metachromatic leukodystrophy leukodystrophy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0018868 MONDO:0019255 True metachromatic leukodystrophy sphingolipidosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0018871 MONDO:0015667 True acute myelomonocytic leukemia M4 acute myeloid leukemia by FAB classification UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018872 MONDO:0015667 True acute megakaryoblastic leukemia acute myeloid leukemia by FAB classification UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018874 MONDO:0004643 True acute myeloid leukemia myeloid leukemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0018874 MONDO:0010643 True acute myeloid leukemia acute leukemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0018875 MONDO:0000426 True Li-Fraumeni syndrome autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0018875 MONDO:0015356 True Li-Fraumeni syndrome hereditary neoplastic syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018876 MONDO:0017595 True mantle cell lymphoma aggressive B-cell non-Hodgkin lymphoma UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018878 MONDO:0002254 True branchiootic syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0018878 MONDO:0015161 True branchiootic syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018879 MONDO:0004907 True lichen planopilaris alopecia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018881 MONDO:0015756 True myelodysplastic syndrome myeloid hemopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018875 MONDO:0015356 True Li-Fraumeni syndrome hereditary neoplastic syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018876 MONDO:0017595 True mantle cell lymphoma aggressive B-cell non-Hodgkin lymphoma UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018881 MONDO:0021058 True myelodysplastic syndrome neoplastic syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018882 MONDO:0005385 True vasculitis vascular disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0018883 MONDO:0020087 True Berardinelli-Seip congenital lipodystrophy hereditary lipodystrophy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018884 MONDO:0019296 True Roch-Leri mesosomatous lipomatosis subcutaneous tissue disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018889 MONDO:0016195 True hyaline body myopathy qualitative or quantitative defects of beta-myosin heavy chain (MYH7) UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018889 MONDO:0019952 True hyaline body myopathy congenital myopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0018890 MONDO:0019810 True Lyell syndrome toxic epidermal necrolysis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018892 MONDO:0015405 True Wyburn-Mason syndrome cerebrofacial arteriovenous metameric syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018892 MONDO:0019293 True Wyburn-Mason syndrome skin vascular disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018893 MONDO:0019293 True Cobb syndrome skin vascular disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018894 MONDO:0020127 True distal hereditary motor neuropathy hereditary peripheral neuropathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018894 MONDO:0024257 True distal hereditary motor neuropathy hereditary motor neuron disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018895 MONDO:0016625 True Plummer-Vinson syndrome acquired deficiency anemia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018896 MONDO:0002305 True thrombotic thrombocytopenic purpura thrombophilia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0018897 MONDO:0015816 True primary cutaneous CD30+ T-cell lymphoproliferative disease indolent primary cutaneous T-cell lymphoma UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018882 MONDO:0005385 True vasculitis vascular disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0018893 MONDO:0015356 True Cobb syndrome hereditary neoplastic syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018895 MONDO:0002254 True Plummer-Vinson syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018896 MONDO:0043768 True thrombotic thrombocytopenic purpura thrombocytopenic purpura UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018898 MONDO:0002898 True primary cutaneous lymphoma skin cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018898 MONDO:0017207 True primary cutaneous lymphoma primary organ-specific lymphoma UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018899 MONDO:0024237 True posterior cortical atrophy inherited neurodegenerative disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018901 MONDO:0000591 True left ventricular noncompaction intrinsic cardiomyopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0018902 MONDO:0000385 True hepatocellular adenoma benign digestive system neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0018902 MONDO:0000627 True hepatocellular adenoma benign endocrine neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0018902 MONDO:0004972 True hepatocellular adenoma adenoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0018902 MONDO:0024477 True hepatocellular adenoma liver and intrahepatic bile duct neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0018903 MONDO:0005707 True sarcocystosis coccidiosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0018898 MONDO:0017207 True primary cutaneous lymphoma primary organ-specific lymphoma UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018901 MONDO:0002254 True left ventricular noncompaction syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0018901 MONDO:0005453 True left ventricular noncompaction congenital heart disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0018902 MONDO:0000385 True hepatocellular adenoma benign digestive system neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0018902 MONDO:0004972 True hepatocellular adenoma adenoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0018902 MONDO:0024477 True hepatocellular adenoma liver and intrahepatic bile duct neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0018905 MONDO:0004949 True diffuse large B-cell lymphoma neoplasm of mature B-cells UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0018905 MONDO:0017595 True diffuse large B-cell lymphoma aggressive B-cell non-Hodgkin lymphoma UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018906 MONDO:0004949 True follicular lymphoma neoplasm of mature B-cells UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0018906 MONDO:0017594 True follicular lymphoma indolent B-cell non-Hodgkin lymphoma UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018907 MONDO:0000628 True craniopharyngioma central nervous system organ benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0018907 MONDO:0002532 True craniopharyngioma squamous cell neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0018907 MONDO:0002720 True craniopharyngioma sella turcica neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0018907 MONDO:0036976 True craniopharyngioma benign epithelial neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018908 MONDO:0005062 True non-Hodgkin lymphoma lymphoma UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0018910 MONDO:0018134 True oculocutaneous albinism disorder of melanin metabolism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018910 MONDO:0019290 True oculocutaneous albinism hypopigmentation of the skin UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018911 MONDO:0015967 True maturity-onset diabetes of the young monogenic diabetes UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018914 MONDO:0004907 True hypotrichosis simplex alopecia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018919 MONDO:0002254 True McCune-Albright syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0018919 MONDO:0018230 True McCune-Albright syndrome skeletal dysplasia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018920 MONDO:0016338 True peripartum cardiomyopathy non-familial dilated cardiomyopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018921 MONDO:0002254 True Meckel syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0018921 MONDO:0005308 True Meckel syndrome ciliopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0018921 MONDO:0043009 True Meckel syndrome hereditary lethal multiple congenital anomalies/dysmorphic syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018922 MONDO:0016450 True cold agglutinin disease autoimmune hemolytic anemia, cold type UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018923 MONDO:0022760 True 22q11.2 deletion syndrome chromosome 22q deletion UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018924 MONDO:0016073 True microphthalmia, Lenz type syndromic microphthalmia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018927 MONDO:0015530 True SUNCT syndrome trigeminal autonomic cephalalgia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018929 MONDO:0018381 True medial condensing osteitis of the clavicle osteochondrosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018931 MONDO:0031422 True mucolipidosis type III, alpha/beta familial mucolipidosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0018931 MONDO:0800088 True mucolipidosis type III, alpha/beta lysosomal storage disease with skeletal involvement UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018932 MONDO:0016330 True cirrhotic cardiomyopathy non-familial hypertrophic cardiomyopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018932 MONDO:0016338 True cirrhotic cardiomyopathy non-familial dilated cardiomyopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018935 MONDO:0004948 True hairy cell leukemia B-cell chronic lymphocytic leukemia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0018936 MONDO:0000631 True osteoblastoma bone benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0018937 MONDO:0019249 True mucopolysaccharidosis type 3 mucopolysaccharidosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0018938 MONDO:0019249 True mucopolysaccharidosis type 4 mucopolysaccharidosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0018939 MONDO:0019950 True muscle-eye-brain disease congenital muscular dystrophy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018940 MONDO:0020124 True congenital myasthenic syndrome neuromuscular junction disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0018941 MONDO:0020568 True furuncular myiasis cutaneous myiasis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018942 MONDO:0016105 True macrophagic myofasciitis acquired skeletal muscle disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018944 MONDO:0002872 True gestational trophoblastic neoplasm trophoblastic neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0018908 MONDO:0005062 True non-Hodgkin lymphoma lymphoma UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0018912 MONDO:0002254 True Cushing syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018919 MONDO:0002254 True McCune-Albright syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0018921 MONDO:0002254 True Meckel syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0018927 MONDO:0002254 True SUNCT syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018936 MONDO:0000631 True osteoblastoma bone benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0018937 MONDO:0002254 True mucopolysaccharidosis type 3 syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0018937 MONDO:0019249 True mucopolysaccharidosis type 3 mucopolysaccharidosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0018938 MONDO:0002254 True mucopolysaccharidosis type 4 syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0018938 MONDO:0019249 True mucopolysaccharidosis type 4 mucopolysaccharidosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0018940 MONDO:0002254 True congenital myasthenic syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0018944 MONDO:0002872 True gestational trophoblastic neoplasm trophoblastic neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0018944 MONDO:0021148 True gestational trophoblastic neoplasm female reproductive system neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018945 MONDO:0016987 True McLeod neuroacanthocytosis syndrome neuroacanthocytosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0018946 MONDO:0020022 True rhombencephalosynapsis central nervous system malformation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018947 MONDO:0019952 True centronuclear myopathy congenital myopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED -MONDO:0018948 MONDO:0016197 True multiminicore myopathy qualitative or quantitative defects of selenoprotein N1 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018949 MONDO:0020121 True distal myopathy muscular dystrophy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0018950 MONDO:0019215 True 3-methylcrotonyl-CoA carboxylase deficiency classic organic aciduria UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018951 MONDO:0016108 True distal myopathy with vocal cord weakness autosomal dominant distal myopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018953 MONDO:0018075 True parietal foramina neural tube defect UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0018953 MONDO:0018230 True parietal foramina skeletal dysplasia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018954 MONDO:0000426 True Loeys-Dietz syndrome autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0018954 MONDO:0002254 True Loeys-Dietz syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0018954 MONDO:0017310 True Loeys-Dietz syndrome Marfan and Marfan-related disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018944 MONDO:0024575 True gestational trophoblastic neoplasm pregnancy disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018949 MONDO:0020121 True distal myopathy muscular dystrophy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0018954 MONDO:0002254 True Loeys-Dietz syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0018955 MONDO:0021098 True recurrent respiratory papillomatosis papillomatosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018957 MONDO:0015923 True pudendal neuralgia acquired peripheral neuropathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018959 MONDO:0016120 True potassium-aggravated myotonia myotonic syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018959 MONDO:0019119 True potassium-aggravated myotonia muscular channelopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018961 MONDO:0005105 True familial melanoma melanoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0018963 MONDO:0019050 True hereditary methemoglobinemia inherited hemoglobinopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018964 MONDO:0016624 True homocystinuria without methylmalonic aciduria inherited deficiency anemia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018964 MONDO:0019220 True homocystinuria without methylmalonic aciduria inborn disorder of cobalamin metabolism and transport UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018965 MONDO:0002254 True Alport syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0018967 MONDO:0010615 True short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia isolated growth hormone deficiency type III UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018968 MONDO:0018075 True iniencephaly neural tube defect UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018974 MONDO:0019337 True paraneoplastic pemphigus autoimmune bullous skin disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0018975 MONDO:0019755 True neurofibromatosis type 1 developmental defect during embryogenesis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018975 MONDO:0021060 True neurofibromatosis type 1 RASopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0018975 MONDO:0021061 True neurofibromatosis type 1 neurofibromatosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0018977 MONDO:0015923 True polyneuropathy associated with IgM monoclonal gammapathy with anti-MAG acquired peripheral neuropathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018978 MONDO:0017287 True IgG4-related mediastinitis IgG4-related disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018979 MONDO:0015923 True multifocal motor neuropathy acquired peripheral neuropathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018980 MONDO:0018237 True acrofacial dysostosis, Kennedy-Teebi type acrofacial dysostosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018981 MONDO:0020070 True benign idiopathic neonatal seizures neonatal epilepsy syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018983 MONDO:0001584 True Tolosa-Hunt syndrome ocular motility disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0018984 MONDO:0005664 True Oroya fever bartonellosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0018992 MONDO:0017287 True IgG4-related thyroid disease IgG4-related disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0018993 MONDO:0015626 True Charcot-Marie-Tooth disease type 2 Charcot-Marie-Tooth disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0018994 MONDO:0015626 True Charcot-Marie-Tooth disease type X Charcot-Marie-Tooth disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0018995 MONDO:0015626 True Charcot-Marie-Tooth disease type 4 Charcot-Marie-Tooth disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0018996 MONDO:0020127 True spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 hereditary peripheral neuropathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018961 MONDO:0005105 True familial melanoma melanoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0018963 MONDO:0001117 True hereditary methemoglobinemia methemoglobinemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018965 MONDO:0002254 True Alport syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0018968 MONDO:0018075 True iniencephaly neural tube defect UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018969 MONDO:0002320 True craniorachischisis congenital nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018975 MONDO:0021060 True neurofibromatosis type 1 RASopathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0018975 MONDO:0021061 True neurofibromatosis type 1 neurofibromatosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0018983 MONDO:0002254 True Tolosa-Hunt syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0018984 MONDO:0005664 True Oroya fever bartonellosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0018988 MONDO:0002254 True iridocorneal endothelial syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018989 MONDO:0002356 True recurrent acute pancreatitis pancreas disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018996 MONDO:0020771 True spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 spinocerebellar ataxia, autosomal recessive, with axonal neuropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0018997 MONDO:0002254 True Noonan syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0018997 MONDO:0020297 True Noonan syndrome Noonan syndrome and Noonan-related syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018998 MONDO:0019118 True Leber congenital amaurosis inherited retinal dystrophy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0018999 MONDO:0017773 True LCAT deficiency hypoalphalipoproteinemia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019002 MONDO:0016729 True Lhermitte-Duclos disease mixed neuronal-glial tumor UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019002 MONDO:0020022 True Lhermitte-Duclos disease central nervous system malformation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019003 MONDO:0015075 True multiple endocrine neoplasia type 2 thyroid gland carcinoma UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019003 MONDO:0017169 True multiple endocrine neoplasia type 2 multiple endocrine neoplasia UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019004 MONDO:0002367 True kidney Wilms tumor kidney cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0018997 MONDO:0002254 True Noonan syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0019002 MONDO:0016729 True Lhermitte-Duclos disease mixed neuronal-glial tumor UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019003 MONDO:0017169 True multiple endocrine neoplasia type 2 multiple endocrine neoplasia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019004 MONDO:0002367 True kidney Wilms tumor kidney cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0019004 MONDO:0006058 True kidney Wilms tumor Wilms tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019005 MONDO:0006025 True nephronophthisis autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0019008 MONDO:0017290 True benign recurrent intrahepatic cholestasis familial intrahepatic cholestasis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019008 MONDO:0017755 True benign recurrent intrahepatic cholestasis inborn disorder of bilirubin metabolism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019009 MONDO:0017094 True isolated focal cortical dysplasia cerebral cortical dysplasia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019010 MONDO:0017182 True congenital isolated hyperinsulinism familial hyperinsulinism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019010 MONDO:0019716 True congenital isolated hyperinsulinism overgrowth syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019011 MONDO:0015626 True Charcot-Marie-Tooth disease type 1 Charcot-Marie-Tooth disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0019016 MONDO:0009637 True maternally-inherited progressive external ophthalmoplegia inborn mitochondrial myopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019016 MONDO:0016387 True maternally-inherited progressive external ophthalmoplegia mitochondrial oxidative phosphorylation disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019018 MONDO:0004994 True Tako-tsubo cardiomyopathy cardiomyopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019019 MONDO:0005516 True osteogenesis imperfecta osteochondrodysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0019023 MONDO:0007950 True cutaneous mastocytosis mastocytosis UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0019024 MONDO:0005089 True mast cell sarcoma sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0019024 MONDO:0007950 True mast cell sarcoma mastocytosis UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0019010 MONDO:0007834 True congenital isolated hyperinsulinism islet cell adenomatosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019018 MONDO:0004994 True Tako-tsubo cardiomyopathy cardiomyopathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019023 MONDO:0007950 True cutaneous mastocytosis mastocytosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0019024 MONDO:0007950 True mast cell sarcoma mastocytosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0019025 MONDO:0003079 True extracutaneous mastocytoma mastocytoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019025 MONDO:0016586 True extracutaneous mastocytoma systemic mastocytosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0019026 MONDO:0017198 True autosomal recessive osteopetrosis osteopetrosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019031 MONDO:0019403 True thrombocytopenia with congenital dyserythropoietic anemia congenital dyserythropoietic anemia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019033 MONDO:0021154 True primary cutis verticis gyrata dermis disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019035 MONDO:0002116 True pancreatoblastoma malignant exocrine pancreas neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0019037 MONDO:0005395 True progressive supranuclear palsy movement disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0019037 MONDO:0020257 True progressive supranuclear palsy supranuclear oculomotor palsy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019042 MONDO:0019755 True multiple congenital anomalies/dysmorphic syndrome developmental defect during embryogenesis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019052 MONDO:0003847 True inborn errors of metabolism hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0019052 MONDO:0005066 True inborn errors of metabolism metabolic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0019053 MONDO:0019052 True peroxisomal disease inborn errors of metabolism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0019054 MONDO:0019755 True congenital limb malformation developmental defect during embryogenesis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019056 MONDO:0005071 True neuromuscular disease nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0019064 MONDO:0003757 True hereditary spastic paraplegia paraplegia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0019064 MONDO:0024237 True hereditary spastic paraplegia inherited neurodegenerative disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019067 MONDO:0018170 True idiopathic steroid-sensitive nephrotic syndrome idiopathic nephrotic syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019068 MONDO:0019722 True congenital membranous nephropathy due to maternal anti-neutral endopeptidase alloimmunization glomerular disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019071 MONDO:0019287 True pure hair and nail ectodermal dysplasia ectodermal dysplasia syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0019072 MONDO:0001751 True intrahepatic cholestasis cholestasis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0019074 MONDO:0011119 True bilateral acute depigmentation of the iris iridogoniodysgenesis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019026 MONDO:0017198 True autosomal recessive osteopetrosis osteopetrosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019035 MONDO:0002116 True pancreatoblastoma malignant exocrine pancreas neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0019037 MONDO:0002254 True progressive supranuclear palsy syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0019037 MONDO:0005559 True progressive supranuclear palsy neurodegenerative disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0019052 MONDO:0005066 True inborn errors of metabolism metabolic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0019053 MONDO:0019052 True peroxisomal disease inborn errors of metabolism UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0019077 MONDO:0002093 True warty dyskeratoma acanthoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019078 MONDO:0003847 True Ritscher-Schinzel syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0019078 MONDO:0015159 True Ritscher-Schinzel syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019078 MONDO:0020022 True Ritscher-Schinzel syndrome central nervous system malformation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019079 MONDO:0024257 True proximal spinal muscular atrophy hereditary motor neuron disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019080 MONDO:0004907 True alopecia totalis alopecia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019082 MONDO:0019337 True bullous pemphigoid autoimmune bullous skin disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0019086 MONDO:0006181 True carcinoma of esophagus digestive system carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0019086 MONDO:0007576 True carcinoma of esophagus esophageal cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0019091 MONDO:0005087 True bronchopulmonary dysplasia respiratory system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0019094 MONDO:0016511 True congenital Epstein-Barr virus infection infectious embryofetopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019095 MONDO:0000314 True plague primary bacterial infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0019100 MONDO:0005071 True neuromyelitis optica nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0019100 MONDO:0044685 True neuromyelitis optica autoimmune/inflammatory optic neuropathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019107 MONDO:0020102 True Rh deficiency syndrome hereditary stomatocytosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019109 MONDO:0015923 True CANOMAD syndrome acquired peripheral neuropathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019112 MONDO:0018215 True cancer-associated retinopathy paraneoplastic neurologic syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019113 MONDO:0016058 True benign paroxysmal torticollis of infancy paroxysmal dystonia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019115 MONDO:0020075 True obesity due to melanocortin 4 receptor deficiency hereditary non-syndromic obesity UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019119 MONDO:0019056 True muscular channelopathy neuromuscular disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019120 MONDO:0019278 True pili bifurcati hair anomaly UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019121 MONDO:0002312 True pneumocystosis opportunistic mycosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0019122 MONDO:0015927 True idiopathic acute eosinophilic pneumonia idiopathic eosinophilic pneumonia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019124 MONDO:0015492 True microscopic polyangiitis anti-neutrophil cytoplasmic antibody-associated vasculitis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019125 MONDO:0002342 True relapsing polychondritis chondromalacia UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0019127 MONDO:0020122 True polymyositis acquired idiopathic inflammatory myopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019131 MONDO:0015929 True ossification anomalies-psychomotor developmental delay syndrome thoracic malformation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019132 MONDO:0020022 True spinal muscular atrophy-Dandy-Walker malformation-cataracts syndrome central nervous system malformation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019133 MONDO:0015159 True visceral neuropathy-brain anomalies-facial dysmorphism-developmental delay syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019134 MONDO:0002682 True central neurocytoma cerebral ventricle cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0019086 MONDO:0007576 True carcinoma of esophagus esophageal cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0019091 MONDO:0005087 True bronchopulmonary dysplasia respiratory system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0019104 MONDO:0002254 True Sandifer syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019121 MONDO:0005249 True pneumocystosis pneumonia UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0019124 MONDO:0043494 True microscopic polyangiitis arteritis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019134 MONDO:0002682 True central neurocytoma cerebral ventricle cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0019134 MONDO:0016729 True central neurocytoma mixed neuronal-glial tumor UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019136 MONDO:0002312 True Zygomycosis opportunistic mycosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0019137 MONDO:0024361 True non-24-hour sleep-wake syndrome circadian rhythm sleep disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019141 MONDO:0006602 True porokeratosis of Mibelli porokeratosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019142 MONDO:0015951 True inherited porphyria hereditary photodermatosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019142 MONDO:0017754 True inherited porphyria inborn disorder of porphyrin metabolism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019143 MONDO:0004664 True angiostrongyliasis helminthiasis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0019144 MONDO:0002304 True hereditary thrombophilia due to congenital protein S deficiency protein S deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0019146 MONDO:0015979 True inherited susceptibility to mycobacterial diseases hereditary predisposition to infections UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019147 MONDO:0002875 True myiasis parasitic ectoparasitic infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0019148 MONDO:0800449 True Wolman disease lysosomal acid lipase deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0019149 MONDO:0800449 True cholesteryl ester storage disease lysosomal acid lipase deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0019151 MONDO:0019118 True oligocone trichromacy inherited retinal dystrophy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019152 MONDO:0019118 True Oguchi disease inherited retinal dystrophy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019153 MONDO:0015159 True brain malformation-congenital heart disease-postaxial polydactyly syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019154 MONDO:0020040 True androgen insensitivity syndrome 46,XY disorder of sex development UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019155 MONDO:0005151 True Leydig cell hypoplasia endocrine system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0019157 MONDO:0015194 True myelodysplastic syndrome with ring sideroblasts sideroblastic anemia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019157 MONDO:0018881 True myelodysplastic syndrome with ring sideroblasts myelodysplastic syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019158 MONDO:0016345 True tropical endomyocardial fibrosis non-familial restrictive cardiomyopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019159 MONDO:0016345 True Loeffler endocarditis non-familial restrictive cardiomyopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019161 MONDO:0015962 True pseudohypoaldosteronism type 1 inherited renal tubular disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019164 MONDO:0016905 True 6q terminal deletion syndrome partial deletion of the long arm of chromosome 6 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019167 MONDO:0006794 True immunoglobulin A vasculitis hypersensitivity vasculitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0019167 MONDO:0015491 True immunoglobulin A vasculitis immune complex mediated vasculitis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019169 MONDO:0016789 True pyruvate dehydrogenase deficiency pyruvate metabolism disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019169 MONDO:0019214 True pyruvate dehydrogenase deficiency inborn carbohydrate metabolic disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0019169 MONDO:0020127 True pyruvate dehydrogenase deficiency hereditary peripheral neuropathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019172 MONDO:0002289 True aniridia iris disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0019173 MONDO:0005108 True rabies viral infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0019173 MONDO:0020010 True rabies infectious disorder of the nervous system UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019177 MONDO:0019046 True odontoleukodystrophy leukodystrophy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019178 MONDO:0015161 True auricular abnormalities-cleft lip with or without cleft palate-ocular abnormalities syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019179 MONDO:0016908 True monosomy 9q22.3 partial monosomy of the long arm of chromosome 9 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019180 MONDO:0000426 True hereditary hemorrhagic telangiectasia autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0019180 MONDO:0016231 True hereditary hemorrhagic telangiectasia capillary malformation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019180 MONDO:0019755 True hereditary hemorrhagic telangiectasia developmental defect during embryogenesis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019181 MONDO:0000509 True non-syndromic X-linked intellectual disability non-syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0019186 MONDO:0000314 True Q fever primary bacterial infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0019187 MONDO:0003847 True Axenfeld-Rieger syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0019187 MONDO:0015161 True Axenfeld-Rieger syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019188 MONDO:0015159 True Rubinstein-Taybi syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019188 MONDO:0018234 True Rubinstein-Taybi syndrome dysostosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0019188 MONDO:0019054 True Rubinstein-Taybi syndrome congenital limb malformation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019189 MONDO:0019052 True inborn disorder of amino acid and other organic acid metabolism inborn errors of metabolism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019190 MONDO:0017380 True juvenile polyposis of infancy juvenile polyposis syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019192 MONDO:0020088 True AKT2-related familial partial lipodystrophy familial partial lipodystrophy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019193 MONDO:0020089 True acquired generalized lipodystrophy acquired lipodystrophy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019193 MONDO:0027766 True acquired generalized lipodystrophy generalized lipodystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0019195 MONDO:0016112 True hereditary inclusion body myopathy-joint contractures-ophthalmoplegia syndrome hereditary inclusion-body myopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019197 MONDO:0019253 True folinic acid-responsive seizures metabolic disease involving other neurotransmitter deficiency UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019198 MONDO:0017255 True sympathetic ophthalmia panuveitis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0019198 MONDO:0017634 True sympathetic ophthalmia non-infectious anterior uveitis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019200 MONDO:0019118 True retinitis pigmentosa inherited retinal dystrophy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0019202 MONDO:0018078 True myxofibrosarcoma soft tissue sarcoma UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019203 MONDO:0002429 True acute interstitial pneumonia idiopathic interstitial pneumonia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0019204 MONDO:0002429 True respiratory bronchiolitis-interstitial lung disease syndrome idiopathic interstitial pneumonia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019205 MONDO:0019287 True trichodysplasia-amelogenesis imperfecta syndrome ectodermal dysplasia syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019157 MONDO:0018881 True myelodysplastic syndrome with ring sideroblasts myelodysplastic syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019170 MONDO:0043494 True polyarteritis nodosa arteritis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019173 MONDO:0005108 True rabies viral infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0019175 MONDO:0019297 True primary lymphedema lymphedema UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019180 MONDO:0001576 True hereditary hemorrhagic telangiectasia telangiectasis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0019187 MONDO:0002254 True Axenfeld-Rieger syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0019193 MONDO:0027766 True acquired generalized lipodystrophy generalized lipodystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0019194 MONDO:0006573 True localized lipodystrophy lipodystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019202 MONDO:0018078 True myxofibrosarcoma soft tissue sarcoma UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019203 MONDO:0002429 True acute interstitial pneumonia idiopathic interstitial pneumonia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0019209 MONDO:0020601 True Japanese encephalitis mosquito-borne viral encephalitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019210 MONDO:0002120 True cutaneous neuroendocrine carcinoma neuroendocrine carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019210 MONDO:0002656 True cutaneous neuroendocrine carcinoma skin carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019210 MONDO:0003363 True cutaneous neuroendocrine carcinoma malignant dermis tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019210 MONDO:0017341 True cutaneous neuroendocrine carcinoma virus associated tumor UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019211 MONDO:0019284 True isolated congenital anonychia inherited isolated nail anomaly UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019212 MONDO:0006602 True disseminated superficial actinic porokeratosis porokeratosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019214 MONDO:0019052 True inborn carbohydrate metabolic disorder inborn errors of metabolism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0019215 MONDO:0000688 True classic organic aciduria inborn organic aciduria UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019218 MONDO:0019256 True inborn disorder of bile acid synthesis sterol metabolism disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019219 MONDO:0019250 True inborn disorder of neurotransmitter metabolism and transport inborn disorder of biogenic amine metabolism and transport UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019220 MONDO:0017758 True inborn disorder of cobalamin metabolism and transport disorder of vitamin and non-protein cofactor absorption and transport UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019222 MONDO:0019189 True inborn disorder of methionine cycle and sulfur amino acid metabolism inborn disorder of amino acid and other organic acid metabolism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019223 MONDO:0019243 True disorder of fatty acid and ketone body metabolism inborn disorder of energy metabolism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019225 MONDO:0019214 True disorder of gluconeogenesis inborn carbohydrate metabolic disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019226 MONDO:0017706 True glucose transport disorder disorder of carbohydrate transmembrane transport and absorption UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019228 MONDO:0004736 True inborn disorder of histidine metabolism inborn disorder of amino acid metabolism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0019228 MONDO:0019189 True inborn disorder of histidine metabolism inborn disorder of amino acid and other organic acid metabolism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019229 MONDO:0019223 True inborn disorder of ketolysis disorder of fatty acid and ketone body metabolism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019230 MONDO:0019189 True inborn disorder of ornithine or proline metabolism inborn disorder of amino acid and other organic acid metabolism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019231 MONDO:0018605 True inborn disorder of pentose phosphate metabolism disorders of pentose/polyol metabolism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019234 MONDO:0019046 True peroxisome biogenesis disorder leukodystrophy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS -MONDO:0019234 MONDO:0019053 True peroxisome biogenesis disorder peroxisomal disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0019234 MONDO:0020127 True peroxisome biogenesis disorder hereditary peripheral neuropathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019236 MONDO:0019254 True inborn disorder of purine metabolism inborn disorder of purine or pyrimidine metabolism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019237 MONDO:0019250 True inborn disorder of pyridoxine metabolism inborn disorder of biogenic amine metabolism and transport UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019238 MONDO:0019254 True inborn disorder of pyrimidine metabolism inborn disorder of purine or pyrimidine metabolism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0019239 MONDO:0019189 True inborn disorder of serine family metabolism inborn disorder of amino acid and other organic acid metabolism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019240 MONDO:0015327 True sterol biosynthesis disorder developmental anomaly of metabolic origin UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019240 MONDO:0019256 True sterol biosynthesis disorder sterol metabolism disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019241 MONDO:0019189 True inborn disorder of the gamma-glutamyl cycle inborn disorder of amino acid and other organic acid metabolism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019242 MONDO:0019189 True inborn disorder of branched-chain amino acid metabolism inborn disorder of amino acid and other organic acid metabolism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019243 MONDO:0019052 True inborn disorder of energy metabolism inborn errors of metabolism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019245 MONDO:0002561 True lysosomal lipid storage disorder lysosomal storage disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0019246 MONDO:0002561 True inborn disorder of lysosomal amino acid transport lysosomal storage disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019248 MONDO:0015327 True mucolipidosis developmental anomaly of metabolic origin UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019248 MONDO:0017731 True mucolipidosis glycoproteinosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019249 MONDO:0002561 True mucopolysaccharidosis lysosomal storage disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0019249 MONDO:0015327 True mucopolysaccharidosis developmental anomaly of metabolic origin UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019250 MONDO:0019052 True inborn disorder of biogenic amine metabolism and transport inborn errors of metabolism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019251 MONDO:0015327 True oligosaccharidosis developmental anomaly of metabolic origin UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019251 MONDO:0017731 True oligosaccharidosis glycoproteinosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019253 MONDO:0019250 True metabolic disease involving other neurotransmitter deficiency inborn disorder of biogenic amine metabolism and transport UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019254 MONDO:0019052 True inborn disorder of purine or pyrimidine metabolism inborn errors of metabolism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0019255 MONDO:0019245 True sphingolipidosis lysosomal lipid storage disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0019256 MONDO:0002525 True sterol metabolism disorder inherited lipid metabolism disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019257 MONDO:0006507 True hemochromatosis type 2 hereditary hemochromatosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0019258 MONDO:0009861 True mild phenylketonuria phenylketonuria UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019259 MONDO:0009861 True classic phenylketonuria phenylketonuria UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019260 MONDO:0016295 True adult neuronal ceroid lipofuscinosis neuronal ceroid lipofuscinosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019260 MONDO:0020143 True adult neuronal ceroid lipofuscinosis cerebral lipidosis with dementia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019261 MONDO:0016295 True infantile neuronal ceroid lipofuscinosis neuronal ceroid lipofuscinosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019261 MONDO:0020143 True infantile neuronal ceroid lipofuscinosis cerebral lipidosis with dementia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019262 MONDO:0016295 True juvenile neuronal ceroid lipofuscinosis neuronal ceroid lipofuscinosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019262 MONDO:0020143 True juvenile neuronal ceroid lipofuscinosis cerebral lipidosis with dementia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019264 MONDO:0017779 True alpha-N-acetylgalactosaminidase deficiency type 3 alpha-N-acetylgalactosaminidase deficiency UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0019265 MONDO:0017186 True diazoxide-resistant focal hyperinsulinism diazoxide-resistant hyperinsulinism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019266 MONDO:0019751 True SAPHO syndrome autoinflammatory syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019267 MONDO:0009612 True vitamin B12-unresponsive methylmalonic acidemia type mut- methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019269 MONDO:0019268 True ichthyosis epidermal disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019270 MONDO:0019268 True erythrokeratoderma epidermal disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019272 MONDO:0019268 True hereditary palmoplantar keratoderma epidermal disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019276 MONDO:0019268 True inherited epidermolysis bullosa epidermal disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019280 MONDO:0002917 True hypertrichosis disorder of pilosebaceous unit UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0019284 MONDO:0002884 True inherited isolated nail anomaly nail disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0019287 MONDO:0002254 True ectodermal dysplasia syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0019287 MONDO:0021026 True ectodermal dysplasia syndrome hereditary epidermal appendage anomaly UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019288 MONDO:0005093 True skin pigmentation disorder skin disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0019289 MONDO:0019288 True hyperpigmentation of the skin skin pigmentation disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019290 MONDO:0019288 True hypopigmentation of the skin skin pigmentation disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019293 MONDO:0005093 True skin vascular disease skin disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0019297 MONDO:0005833 True lymphedema lymphatic system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0019306 MONDO:0017265 True congenital non-bullous ichthyosiform erythroderma autosomal recessive congenital ichthyosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019308 MONDO:0017612 True junctional epidermolysis bullosa inversa junctional epidermolysis bullosa UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019309 MONDO:0017612 True late-onset junctional epidermolysis bullosa junctional epidermolysis bullosa UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019312 MONDO:0017305 True Hermansky-Pudlak syndrome syndromic oculocutaneous albinism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019312 MONDO:0017739 True Hermansky-Pudlak syndrome disorder of lysosomal-related organelles UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019312 MONDO:0021181 True Hermansky-Pudlak syndrome inherited blood coagulation disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019314 MONDO:0019023 True cutaneous mastocytoma cutaneous mastocytosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019315 MONDO:0019023 True diffuse cutaneous mastocytosis cutaneous mastocytosis UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0019316 MONDO:0019023 True maculopapular cutaneous mastocytosis cutaneous mastocytosis UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0019318 MONDO:0016831 True inflammatory linear verrucous epidermal nevus linear verrucous nevus syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019319 MONDO:0016831 True verrucous nevus linear verrucous nevus syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019320 MONDO:0016831 True acanthokeratolytic verrucous nevus linear verrucous nevus syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019321 MONDO:0021106 True atypical Werner syndrome laminopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019234 MONDO:0019046 True peroxisome biogenesis disorder leukodystrophy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS +MONDO:0019249 MONDO:0002561 True mucopolysaccharidosis lysosomal storage disease UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0019249 MONDO:0019214 True mucopolysaccharidosis inborn carbohydrate metabolic disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0019287 MONDO:0002254 True ectodermal dysplasia syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0019288 MONDO:0005093 True skin pigmentation disorder skin disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0019293 MONDO:0005093 True skin vascular disease skin disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0019293 MONDO:0005385 True skin vascular disease vascular disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0019315 MONDO:0019023 True diffuse cutaneous mastocytosis cutaneous mastocytosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0019316 MONDO:0019023 True maculopapular cutaneous mastocytosis cutaneous mastocytosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0019323 MONDO:0006594 True pemphigus erythematosus pemphigus SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019324 MONDO:0006594 True pemphigus foliaceus pemphigus UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0019325 MONDO:0017318 True phakomatosis cesioflammea phakomatosis pigmentovascularis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019326 MONDO:0017318 True phakomatosis cesiomarmorata phakomatosis pigmentovascularis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019327 MONDO:0017318 True phakomatosis spilorosea phakomatosis pigmentovascularis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019328 MONDO:0002013 True macrocystic lymphatic malformation lymphangioma UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019329 MONDO:0002013 True microcystic lymphatic malformation lymphangioma UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019330 MONDO:0019278 True pili gemini hair anomaly UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019332 MONDO:0017675 True punctate palmoplantar keratoderma type 1 punctate palmoplantar keratoderma UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019333 MONDO:0015625 True autosomal recessive hyperinsulinism due to SUR1 deficiency diazoxide-resistant diffuse hyperinsulinism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019334 MONDO:0015625 True autosomal recessive hyperinsulinism due to Kir6.2 deficiency diazoxide-resistant diffuse hyperinsulinism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019335 MONDO:0009861 True mild hyperphenylalaninemia phenylketonuria UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019336 MONDO:0021055 True Gardner syndrome classic familial adenomatous polyposis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019337 MONDO:0002406 True autoimmune bullous skin disease dermatitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0019338 MONDO:0019751 True sarcoidosis autoinflammatory syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019340 MONDO:0005554 True scleroderma rheumatic disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0019342 MONDO:0002254 True Seckel syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0019342 MONDO:0006025 True Seckel syndrome autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0019344 MONDO:0020122 True antisynthetase syndrome acquired idiopathic inflammatory myopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019345 MONDO:0000314 True shigellosis primary bacterial infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0019346 MONDO:0017734 True sialidosis type 1 sialidosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019347 MONDO:0015947 True peeling skin syndrome inherited ichthyosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019349 MONDO:0002254 True Sotos syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0019349 MONDO:0016904 True Sotos syndrome partial deletion of the long arm of chromosome 5 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019349 MONDO:0018230 True Sotos syndrome skeletal dysplasia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019350 MONDO:0003689 True hereditary spherocytosis familial hemolytic anemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0019353 MONDO:0005150 True Stargardt disease age-related macular degeneration UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0019354 MONDO:0002254 True Stickler syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0019355 MONDO:0005578 True adult-onset Still disease arthritic joint disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0019356 MONDO:0019755 True urogenital tract malformation developmental defect during embryogenesis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019358 MONDO:0015327 True encephalopathy due to sulfite oxidase deficiency developmental anomaly of metabolic origin UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019358 MONDO:0019222 True encephalopathy due to sulfite oxidase deficiency inborn disorder of methionine cycle and sulfur amino acid metabolism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019359 MONDO:0001195 True Rocky mountain spotted fever spotted fever UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0019360 MONDO:0001195 True rickettsialpox spotted fever UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0019362 MONDO:0001246 True epidemic louse-borne typhus typhus UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0019364 MONDO:0001195 True pseudotyphus of California spotted fever UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019365 MONDO:0001246 True scrub typhus typhus UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0019366 MONDO:0019246 True free sialic acid storage disease inborn disorder of lysosomal amino acid transport UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019371 MONDO:0021107 True narcolepsy without cataplexy narcolepsy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019372 MONDO:0019060 True solitary bone cyst bone neoplasm UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019328 MONDO:0002013 True macrocystic lymphatic malformation lymphangioma UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019336 MONDO:0021055 True Gardner syndrome classic familial adenomatous polyposis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019340 MONDO:0005554 True scleroderma rheumatic disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0019340 MONDO:0007179 True scleroderma autoimmune disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0019342 MONDO:0002254 True Seckel syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0019349 MONDO:0002254 True Sotos syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0019350 MONDO:0003689 True hereditary spherocytosis familial hemolytic anemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0019354 MONDO:0002254 True Stickler syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0019368 MONDO:0006858 True florid cemento-osseous dysplasia mouth disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019373 MONDO:0006974 True desmoplastic small round cell tumor small cell sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0019373 MONDO:0018078 True desmoplastic small round cell tumor soft tissue sarcoma UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019374 MONDO:0020043 True CAMOS syndrome autosomal recessive congenital cerebellar ataxia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019385 MONDO:0020640 True steroid-responsive encephalopathy associated with autoimmune thyroiditis autoimmune encephalitis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019387 MONDO:0015161 True macrostomia-preauricular tags-external ophthalmoplegia syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019388 MONDO:0015161 True pelvis syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019391 MONDO:0001713 True Fanconi anemia inherited aplastic anemia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0019391 MONDO:0015161 True Fanconi anemia multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019391 MONDO:0018234 True Fanconi anemia dysostosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0019391 MONDO:0019054 True Fanconi anemia congenital limb malformation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019373 MONDO:0018078 True desmoplastic small round cell tumor soft tissue sarcoma UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019384 MONDO:0006009 True encephalitis lethargica viral encephalitis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0019390 MONDO:0002254 True Susac syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019390 MONDO:0007179 True Susac syndrome autoimmune disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019391 MONDO:0003225 True Fanconi anemia bone marrow disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0019391 MONDO:0021190 True Fanconi anemia DNA repair disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019392 MONDO:0021110 True syringocystadenoma papilliferum sweat gland adenoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019393 MONDO:0019218 True idiopathic malabsorption due to bile acid synthesis defects inborn disorder of bile acid synthesis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019396 MONDO:0019722 True collagen type III glomerulopathy glomerular disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019398 MONDO:0016112 True desmin-related myopathy with Mallory body-like inclusions hereditary inclusion-body myopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019399 MONDO:0019119 True Isaac syndrome muscular channelopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019402 MONDO:0000984 True beta thalassemia thalassemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0019402 MONDO:0017145 True beta thalassemia beta-thalassemia and related diseases UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019403 MONDO:0003689 True congenital dyserythropoietic anemia familial hemolytic anemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0019404 MONDO:0002547 True perineurioma nerve sheath neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0019404 MONDO:0016749 True perineurioma tumor of cranial and spinal nerves UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019405 MONDO:0024237 True facial onset sensory and motor neuronopathy inherited neurodegenerative disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019406 MONDO:0019695 True craniofacial conodysplasia acromelic dysplasia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019407 MONDO:0000426 True microcephalic osteodysplastic dysplasia, Saul-Wilson type autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0019407 MONDO:0005497 True microcephalic osteodysplastic dysplasia, Saul-Wilson type bone development disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0019408 MONDO:0019701 True Astley-Kendall dysplasia chondrodysplasia punctata UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019409 MONDO:0005298 True idiopathic juvenile osteoporosis osteoporosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED -MONDO:0019412 MONDO:0018230 True dysspondyloenchondromatosis skeletal dysplasia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019413 MONDO:0018234 True ischio-vertebral syndrome dysostosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019416 MONDO:0015159 True X-linked intellectual disability-hypogammaglobulinemia-progressive neurological deterioration syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019418 MONDO:0015159 True X-linked intellectual disability-epilepsy-progressive joint contractures-dysmorphism syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019420 MONDO:0015159 True X-linked intellectual disability, Pai type multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019422 MONDO:0015159 True X-linked intellectual disability, Stevenson type multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019423 MONDO:0015159 True X-linked intellectual disability, Stoll type multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019427 MONDO:0024237 True X-linked neurodegenerative syndrome, Bertini type inherited neurodegenerative disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019429 MONDO:0024237 True X-linked neurodegenerative syndrome, Hamel type inherited neurodegenerative disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019430 MONDO:0016612 True X-linked intellectual disability-ataxia-apraxia syndrome X-linked cerebellar ataxia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019432 MONDO:0018456 True rheumatoid factor-negative juvenile idiopathic arthritis polyarticular juvenile idiopathic arthritis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019433 MONDO:0011429 True oligoarticular juvenile idiopathic arthritis juvenile idiopathic arthritis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019434 MONDO:0011429 True systemic-onset juvenile idiopathic arthritis juvenile idiopathic arthritis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019435 MONDO:0018456 True rheumatoid factor-positive polyarticular juvenile idiopathic arthritis polyarticular juvenile idiopathic arthritis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019436 MONDO:0011429 True psoriasis-related juvenile idiopathic arthritis juvenile idiopathic arthritis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019437 MONDO:0011429 True enthesitis-related juvenile idiopathic arthritis juvenile idiopathic arthritis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019438 MONDO:0016330 True AL amyloidosis non-familial hypertrophic cardiomyopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019438 MONDO:0016345 True AL amyloidosis non-familial restrictive cardiomyopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019438 MONDO:0019065 True AL amyloidosis amyloidosis UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0019439 MONDO:0016345 True AA amyloidosis non-familial restrictive cardiomyopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019439 MONDO:0019065 True AA amyloidosis amyloidosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0019440 MONDO:0018590 True wild type ABeta2M amyloidosis ABeta2M amyloidosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019441 MONDO:0016340 True ATTRV122I amyloidosis familial restrictive cardiomyopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019443 MONDO:0000153 True dextro-looped transposition of the great arteries transposition of the great arteries UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019443 MONDO:0005453 True dextro-looped transposition of the great arteries congenital heart disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0019444 MONDO:0016128 True trichinellosis parasitic myositis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019446 MONDO:0018432 True localized lichen myxedematosus lichen myxedematosus UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019447 MONDO:0018432 True atypical lichen myxedematosus lichen myxedematosus UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019448 MONDO:0020073 True benign adult familial myoclonic epilepsy adolescent-onset epilepsy syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019449 MONDO:0015148 True lissencephaly type 3-familial fetal akinesia sequence syndrome lissencephaly type 3 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019450 MONDO:0018838 True lissencephaly with cerebellar hypoplasia lissencephaly spectrum disorders UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019451 MONDO:0001014 True chronic neutrophilic leukemia chronic leukemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0019451 MONDO:0020076 True chronic neutrophilic leukemia myeloproliferative neoplasm UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0019452 MONDO:0020076 True myeloproliferative neoplasm, unclassifiable myeloproliferative neoplasm UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019453 MONDO:0018881 True myelodysplastic syndrome with multilineage dysplasia myelodysplastic syndrome UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019454 MONDO:0018881 True myelodysplastic syndrome with excess blasts myelodysplastic syndrome UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019455 MONDO:0015667 True acute panmyelosis with myelofibrosis acute myeloid leukemia by FAB classification UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019456 MONDO:0018874 True acute myeloid leukemia with multilineage dysplasia acute myeloid leukemia UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019457 MONDO:0018874 True therapy related acute myeloid leukemia and myelodysplastic syndrome acute myeloid leukemia UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019458 MONDO:0015667 True acute basophilic leukemia acute myeloid leukemia by FAB classification UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019460 MONDO:0018874 True acute leukemia of ambiguous lineage acute myeloid leukemia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019461 MONDO:0001023 True B-cell prolymphocytic leukemia prolymphocytic leukemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0019402 MONDO:0000984 True beta thalassemia thalassemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0019404 MONDO:0002547 True perineurioma nerve sheath neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0019409 MONDO:0005298 True idiopathic juvenile osteoporosis osteoporosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS +MONDO:0019433 MONDO:0011429 True oligoarticular juvenile idiopathic arthritis juvenile idiopathic arthritis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019434 MONDO:0011429 True systemic-onset juvenile idiopathic arthritis juvenile idiopathic arthritis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019436 MONDO:0011849 True psoriasis-related juvenile idiopathic arthritis psoriatic arthritis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019437 MONDO:0011429 True enthesitis-related juvenile idiopathic arthritis juvenile idiopathic arthritis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019438 MONDO:0019065 True AL amyloidosis amyloidosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0019439 MONDO:0019065 True AA amyloidosis amyloidosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0019451 MONDO:0001014 True chronic neutrophilic leukemia chronic leukemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0019451 MONDO:0020076 True chronic neutrophilic leukemia myeloproliferative neoplasm UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0019452 MONDO:0020076 True myeloproliferative neoplasm, unclassifiable myeloproliferative neoplasm UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019453 MONDO:0018881 True myelodysplastic syndrome with multilineage dysplasia myelodysplastic syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019454 MONDO:0018881 True myelodysplastic syndrome with excess blasts myelodysplastic syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019455 MONDO:0015667 True acute panmyelosis with myelofibrosis acute myeloid leukemia by FAB classification UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019456 MONDO:0018874 True acute myeloid leukemia with multilineage dysplasia acute myeloid leukemia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019457 MONDO:0018874 True therapy related acute myeloid leukemia and myelodysplastic syndrome acute myeloid leukemia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019458 MONDO:0015667 True acute basophilic leukemia acute myeloid leukemia by FAB classification UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019461 MONDO:0001023 True B-cell prolymphocytic leukemia prolymphocytic leukemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0019461 MONDO:0004949 True B-cell prolymphocytic leukemia neoplasm of mature B-cells UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0019461 MONDO:0017595 True B-cell prolymphocytic leukemia aggressive B-cell non-Hodgkin lymphoma UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019462 MONDO:0017604 True splenic marginal zone lymphoma marginal zone lymphoma UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0019463 MONDO:0004959 True non-amyloid monoclonal immunoglobulin deposition disease plasma cell neoplasm UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019464 MONDO:0004959 True heavy chain disease plasma cell neoplasm UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0019465 MONDO:0017604 True nodal marginal zone B-cell lymphoma marginal zone lymphoma UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0019466 MONDO:0017343 True lymphomatoid granulomatosis Epstein-Barr virus-associated malignant lymphoproliferative disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019466 MONDO:0018905 True lymphomatoid granulomatosis diffuse large B-cell lymphoma UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0019467 MONDO:0015760 True CD4+/CD56+ hematodermic neoplasm T-cell non-Hodgkin lymphoma UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0019468 MONDO:0001023 True T-cell prolymphocytic leukemia prolymphocytic leukemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0019462 MONDO:0017604 True splenic marginal zone lymphoma marginal zone lymphoma UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0019465 MONDO:0017604 True nodal marginal zone B-cell lymphoma marginal zone lymphoma UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0019467 MONDO:0002898 True CD4+/CD56+ hematodermic neoplasm skin cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0019467 MONDO:0005170 True CD4+/CD56+ hematodermic neoplasm myeloid neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0019468 MONDO:0001023 True T-cell prolymphocytic leukemia prolymphocytic leukemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0019469 MONDO:0001014 True T-cell large granular lymphocyte leukemia chronic leukemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0019469 MONDO:0005402 True T-cell large granular lymphocyte leukemia lymphoid leukemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0019469 MONDO:0005402 True T-cell large granular lymphocyte leukemia lymphoid leukemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0019470 MONDO:0001014 True aggressive NK-cell leukemia chronic leukemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0019471 MONDO:0003660 True adult T-cell leukemia/lymphoma adult lymphoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0019471 MONDO:0015760 True adult T-cell leukemia/lymphoma T-cell non-Hodgkin lymphoma UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0019471 MONDO:0017341 True adult T-cell leukemia/lymphoma virus associated tumor UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019472 MONDO:0005062 True extranodal nasal NK/T cell lymphoma lymphoma UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0019472 MONDO:0017343 True extranodal nasal NK/T cell lymphoma Epstein-Barr virus-associated malignant lymphoproliferative disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019473 MONDO:0015760 True enteropathy-associated T-cell lymphoma T-cell non-Hodgkin lymphoma UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019474 MONDO:0015760 True hepatosplenic T-cell lymphoma T-cell non-Hodgkin lymphoma UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0019475 MONDO:0015816 True subcutaneous panniculitis-like T-cell lymphoma indolent primary cutaneous T-cell lymphoma UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019476 MONDO:0015758 True primary cutaneous peripheral T-cell lymphoma not otherwise specified primary cutaneous T-cell lymphoma UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019471 MONDO:0015760 True adult T-cell leukemia/lymphoma T-cell non-Hodgkin lymphoma UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0019472 MONDO:0005062 True extranodal nasal NK/T cell lymphoma lymphoma UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0019473 MONDO:0015760 True enteropathy-associated T-cell lymphoma T-cell non-Hodgkin lymphoma UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019474 MONDO:0015760 True hepatosplenic T-cell lymphoma T-cell non-Hodgkin lymphoma UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0019478 MONDO:0003660 True adult nodular lymphocyte predominant Hodgkin lymphoma adult lymphoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019478 MONDO:0044778 True adult nodular lymphocyte predominant Hodgkin lymphoma nodular lymphocyte predominant Hodgkin lymphoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019479 MONDO:0006247 True histiocytic sarcoma histiocytic and dendritic cell neoplasm UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0019480 MONDO:0020082 True Langerhans cell sarcoma dendritic cell tumor UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019482 MONDO:0020082 True dendritic cell sarcoma not otherwise specified dendritic cell tumor UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019483 MONDO:0005062 True methotrexate-associated lymphoproliferative disorders lymphoma UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0019483 MONDO:0020083 True methotrexate-associated lymphoproliferative disorders immunodeficiency-associated lymphoproliferative disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019485 MONDO:0020071 True idiopathic hemiconvulsion-hemiplegia syndrome infantile epilepsy syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019485 MONDO:0020072 True idiopathic hemiconvulsion-hemiplegia syndrome childhood-onset epilepsy syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019487 MONDO:0020072 True epilepsy with myoclonic absences childhood-onset epilepsy syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019488 MONDO:0020071 True myoclonic epilepsy in non-progressive encephalopathies infantile epilepsy syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019489 MONDO:0017666 True diffuse palmoplantar keratoderma - acrocyanosis syndrome diffuse palmoplantar keratoderma UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019490 MONDO:0000992 True progressive familial heart block heart conduction disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0019479 MONDO:0006247 True histiocytic sarcoma histiocytic and dendritic cell neoplasm UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0019496 MONDO:0002082 True neuroendocrine neoplasm endocrine gland neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019498 MONDO:0002875 True tungiasis parasitic ectoparasitic infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0019499 MONDO:0001967 True Turner syndrome gonadal dysgenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0019499 MONDO:0017975 True Turner syndrome sex chromosome disorder of sex development UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019499 MONDO:0019852 True Turner syndrome inherited primary ovarian failure UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019500 MONDO:0020539 True extragonadal teratoma extragonadal non-dysgerminomatous germ cell tumor UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019501 MONDO:0002254 True Usher syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0019501 MONDO:0006025 True Usher syndrome autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0019502 MONDO:0006025 True autosomal recessive non-syndromic intellectual disability autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0019503 MONDO:0003847 True anterior segment dysgenesis hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0019503 MONDO:0005328 True anterior segment dysgenesis eye disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0019507 MONDO:0004038 True amelogenesis imperfecta dental enamel hypoplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0019508 MONDO:0002254 True van der Woude syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0019508 MONDO:0015161 True van der Woude syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019509 MONDO:0015491 True cutaneous leukocytoclastic angiitis immune complex mediated vasculitis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019514 MONDO:0002405 True hepatic veno-occlusive disease hepatic vascular disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0019516 MONDO:0002311 True exudative vitreoretinopathy retinal vascular disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0019517 MONDO:0018094 True Waardenburg syndrome type 2 Waardenburg syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019522 MONDO:0006543 True recessive dystrophic epidermolysis bullosa-generalized other epidermolysis bullosa dystrophica UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019524 MONDO:0015231 True Bartter syndrome type 4 Bartter syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019525 MONDO:0019852 True tetrasomy X inherited primary ovarian failure UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019526 MONDO:0015491 True erythema elevatum diutinum immune complex mediated vasculitis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019532 MONDO:0020108 True autoimmune hemolytic anemia, warm type autoimmune hemolytic anemia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019533 MONDO:0016450 True paroxysmal cold hemoglobinuria autoimmune hemolytic anemia, cold type UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019534 MONDO:0020108 True mixed-type autoimmune hemolytic anemia autoimmune hemolytic anemia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019535 MONDO:0020108 True drug-induced autoimmune hemolytic anemia autoimmune hemolytic anemia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019536 MONDO:0034103 True Shiga toxin-associated hemolytic uremic syndrome infection-related hemolytic uremic syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019537 MONDO:0002280 True hemoglobin D disease anemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0019537 MONDO:0019050 True hemoglobin D disease inherited hemoglobinopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0019538 MONDO:0016541 True Gaisbock syndrome acquired secondary polycythemia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019548 MONDO:0018778 True autosomal dominant intermediate Charcot-Marie-Tooth disease intermediate Charcot-Marie-Tooth disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019552 MONDO:0019194 True centrifugal lipodystrophy localized lipodystrophy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019553 MONDO:0019194 True drug-induced localized lipodystrophy localized lipodystrophy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019554 MONDO:0019194 True idiopathic localized lipodystrophy localized lipodystrophy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019555 MONDO:0019194 True panniculitis and localized lipodystrophy localized lipodystrophy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019556 MONDO:0019194 True pressure-induced localized lipoatrophy localized lipodystrophy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019557 MONDO:0015574 True chilblain lupus chronic cutaneous lupus erythematosus UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019557 MONDO:0019293 True chilblain lupus skin vascular disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0019558 MONDO:0015574 True discoid lupus erythematosus chronic cutaneous lupus erythematosus UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019559 MONDO:0015574 True hypertrophic or verrucous lupus erythematosus chronic cutaneous lupus erythematosus UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019560 MONDO:0015574 True lupus erythematosus tumidus chronic cutaneous lupus erythematosus UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019561 MONDO:0015574 True lupus erythematosus panniculitis chronic cutaneous lupus erythematosus UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019562 MONDO:0019340 True localized scleroderma scleroderma UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0019563 MONDO:0002254 True CREST syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0019565 MONDO:0021181 True hereditary von Willebrand disease inherited blood coagulation disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019569 MONDO:0016006 True Cockayne syndrome type 1 Cockayne syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0019570 MONDO:0016006 True Cockayne syndrome type 2 Cockayne syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0019571 MONDO:0000426 True autosomal dominant cutis laxa autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0019572 MONDO:0006025 True autosomal recessive cutis laxa type 1 autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0019573 MONDO:0017355 True autosomal recessive cutis laxa type 2 inborn disorder of proline metabolism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019573 MONDO:0018230 True autosomal recessive cutis laxa type 2 skeletal dysplasia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019574 MONDO:0018178 True secondary intestinal lymphangiectasia intestinal lymphangiectasia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019575 MONDO:0004907 True hypotrichosis simplex of the scalp alopecia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019576 MONDO:0019316 True telangiectasia macularis eruptiva perstans maculopapular cutaneous mastocytosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019577 MONDO:0019211 True anonychia-onychodystrophy syndrome isolated congenital anonychia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019578 MONDO:0019446 True nodular lichen myxedematosus localized lichen myxedematosus UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019579 MONDO:0019446 True discrete papular lichen myxedematosus localized lichen myxedematosus UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019580 MONDO:0019446 True papular mucinosis of infancy localized lichen myxedematosus UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019581 MONDO:0019446 True acral persistent papular mucinosis localized lichen myxedematosus UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019582 MONDO:0019446 True self-healing papular mucinosis localized lichen myxedematosus UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019583 MONDO:0019447 True localized lichen myxedematosus with mixed features of different subtypes atypical lichen myxedematosus UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019584 MONDO:0019447 True localized lichen myxedematosus with monoclonal gammopathy or systemic symptoms atypical lichen myxedematosus UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019585 MONDO:0019447 True scleromyxedema without monoclonal gammopathy atypical lichen myxedematosus UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019587 MONDO:0000426 True autosomal dominant nonsyndromic hearing loss autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0019588 MONDO:0006025 True hearing loss, autosomal recessive autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0019600 MONDO:0015951 True xeroderma pigmentosum hereditary photodermatosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019605 MONDO:0019722 True immunotactoid or fibrillary glomerulopathy glomerular disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019606 MONDO:0015923 True simple cryoglobulinemia acquired peripheral neuropathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019607 MONDO:0011429 True unspecified juvenile idiopathic arthritis juvenile idiopathic arthritis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019609 MONDO:0015327 True Zellweger spectrum disorders developmental anomaly of metabolic origin UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019609 MONDO:0019234 True Zellweger spectrum disorders peroxisome biogenesis disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0019612 MONDO:0003429 True functioning gonadotropic adenoma functioning pituitary gland adenoma UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019613 MONDO:0006373 True non-functioning pituitary adenoma pituitary gland adenoma UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0019614 MONDO:0015127 True pituitary deficiency due to Rathke's pouch cysts pituitary deficiency UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019615 MONDO:0021227 True pituitary dermoid and epidermoid cysts adrenal gland neoplasm UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019617 MONDO:0015127 True pituitary deficiency due to empty sella turcica syndrome pituitary deficiency UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019621 MONDO:0017019 True chronic pneumonitis of infancy interstitial lung disease specific to infancy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019622 MONDO:0002429 True non-specific interstitial pneumonia idiopathic interstitial pneumonia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0019623 MONDO:0010481 True hereditary angioedema angioedema UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0019624 MONDO:0010481 True acquired angioedema angioedema UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0019628 MONDO:0011119 True Rieger anomaly iridogoniodysgenesis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019629 MONDO:0000942 True sclerocornea corneal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0019630 MONDO:0011119 True congenital ectropion uveae iridogoniodysgenesis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019631 MONDO:0004860 True persistent hyperplastic primary vitreous vitreous disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0019632 MONDO:0000314 True Lyme disease primary bacterial infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0019633 MONDO:0000314 True relapsing fever primary bacterial infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0019634 MONDO:0018751 True familial nasal acilia hereditary otorhinolaryngologic disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019636 MONDO:0018470 True renal agenesis, unilateral renal agenesis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019637 MONDO:0005240 True renal hypoplasia kidney disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0019640 MONDO:0018559 True posterior urethral valve fetal lower urinary tract obstruction UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019642 MONDO:0017323 True vitamin D-dependent rickets, type 2 hypocalcemic rickets UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019643 MONDO:0018638 True transient pseudohypoaldosteronism pseudohypoaldosteronism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019644 MONDO:0019638 True renal dysplasia, unilateral renal dysplasia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019645 MONDO:0019638 True renal dysplasia, bilateral renal dysplasia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019646 MONDO:0019639 True unilateral congenital megacalycosis congenital megacalycosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019647 MONDO:0019639 True congenital bilateral megacalycosis congenital megacalycosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019648 MONDO:0005516 True achondrogenesis osteochondrodysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0019648 MONDO:0019694 True achondrogenesis spondylodysplastic dysplasia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019659 MONDO:0007043 True Pfeiffer syndrome type 1 Pfeiffer syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019660 MONDO:0007043 True Pfeiffer syndrome type 2 Pfeiffer syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019661 MONDO:0007043 True Pfeiffer syndrome type 3 Pfeiffer syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019662 MONDO:0015461 True short rib-polydactyly syndrome, Majewski type short rib-polydactyly syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019665 MONDO:0000845 True monostotic fibrous dysplasia fibrous dysplasia UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019666 MONDO:0100510 True spondyloepimetaphyseal dysplasia, PAPSS2 type spondyloepimetaphyseal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0019667 MONDO:0016761 True spondyloepiphyseal dysplasia tarda spondyloepiphyseal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0019669 MONDO:0019648 True hypochondrogenesis achondrogenesis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0019669 MONDO:0022800 True hypochondrogenesis type 2 collagenopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019670 MONDO:0016240 True ulnar hemimelia hemimelia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019671 MONDO:0016240 True radial hemimelia hemimelia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019672 MONDO:0016240 True fibular hemimelia hemimelia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019675 MONDO:0100510 True spondyloepimetaphyseal dysplasia with joint laxity spondyloepimetaphyseal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0019681 MONDO:0009738 True juvenile sialidosis type 2 sialidosis type 2 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019682 MONDO:0009738 True congenital sialidosis type 2 sialidosis type 2 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019691 MONDO:0018230 True short rib dysplasia skeletal dysplasia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019694 MONDO:0018230 True spondylodysplastic dysplasia skeletal dysplasia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019695 MONDO:0018230 True acromelic dysplasia skeletal dysplasia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019696 MONDO:0005516 True acromesomelic dysplasia osteochondrodysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0019696 MONDO:0018230 True acromesomelic dysplasia skeletal dysplasia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019698 MONDO:0018230 True bent bone dysplasia skeletal dysplasia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019701 MONDO:0018230 True chondrodysplasia punctata skeletal dysplasia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019702 MONDO:0018230 True neonatal osteosclerotic dysplasia skeletal dysplasia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019707 MONDO:0018230 True primary osteolysis skeletal dysplasia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019719 MONDO:0019755 True congenital anomaly of kidney and urinary tract developmental defect during embryogenesis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019726 MONDO:0007407 True type II mixed cryoglobulinemia Cryoglobulinemic vasculitis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019727 MONDO:0007407 True mixed cryoglobulinemia type III Cryoglobulinemic vasculitis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019728 MONDO:0019463 True heavy chain deposition disease non-amyloid monoclonal immunoglobulin deposition disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019729 MONDO:0019463 True light and heavy chain deposition disease non-amyloid monoclonal immunoglobulin deposition disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019730 MONDO:0019463 True light chain deposition disease non-amyloid monoclonal immunoglobulin deposition disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019731 MONDO:0007099 True AApoAI amyloidosis familial visceral amyloidosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019732 MONDO:0007099 True ALys amyloidosis familial visceral amyloidosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019733 MONDO:0007099 True AFib amyloidosis familial visceral amyloidosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019734 MONDO:0018010 True juvenile polymyositis juvenile idiopathic inflammatory myopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019736 MONDO:0018904 True dense deposit disease primary membranoproliferative glomerulonephritis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019739 MONDO:0016244 True atypical hemolytic-uremic syndrome with anti-factor H antibodies atypical hemolytic-uremic syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019740 MONDO:0018896 True acquired thrombotic thrombocytopenic purpura thrombotic thrombocytopenic purpura UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019742 MONDO:0019005 True late-onset nephronophthisis nephronophthisis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019745 MONDO:0009067 True cystinuria type A cystinuria UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019746 MONDO:0009067 True cystinuria type B cystinuria UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019753 MONDO:0015564 True localized Castleman disease Castleman disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019754 MONDO:0015157 True multicentric Castleman disease human herpesvirus 8-related tumor UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019754 MONDO:0015564 True multicentric Castleman disease Castleman disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0019756 MONDO:0016296 True lobar holoprosencephaly holoprosencephaly UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019757 MONDO:0016296 True alobar holoprosencephaly holoprosencephaly UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019759 MONDO:0017919 True epispadias exstrophy-epispadias complex UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019761 MONDO:0016060 True laryngotracheoesophageal cleft type 1 laryngotracheoesophageal cleft UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019762 MONDO:0016060 True laryngotracheoesophageal cleft type 2 laryngotracheoesophageal cleft UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019763 MONDO:0016060 True laryngotracheoesophageal cleft type 3 laryngotracheoesophageal cleft UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019764 MONDO:0016060 True laryngotracheoesophageal cleft type 4 laryngotracheoesophageal cleft UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019766 MONDO:0010653 True X-linked intellectual disability, Porteous type Renpenning syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019767 MONDO:0010653 True hamel cerebro-palato-cardiac syndrome Renpenning syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019768 MONDO:0010653 True X-linked intellectual disability, Golabi-Ito-hall type Renpenning syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019769 MONDO:0010653 True X-linked intellectual disability, Sutherland-Haan type Renpenning syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019771 MONDO:0000477 True oromandibular dystonia focal dystonia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0019771 MONDO:0015990 True oromandibular dystonia focal, segmental or multifocal dystonia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019772 MONDO:0015990 True blepharospasm-oromandibular dystonia syndrome focal, segmental or multifocal dystonia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019773 MONDO:0017069 True myelomeningocele spina bifida cystica UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019780 MONDO:0019755 True anotia developmental defect during embryogenesis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019499 MONDO:0001967 True Turner syndrome gonadal dysgenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0019499 MONDO:0002254 True Turner syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0019501 MONDO:0002254 True Usher syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0019508 MONDO:0002254 True van der Woude syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0019514 MONDO:0002405 True hepatic veno-occlusive disease hepatic vascular disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0019517 MONDO:0018094 True Waardenburg syndrome type 2 Waardenburg syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019518 MONDO:0018094 True Waardenburg-Shah syndrome Waardenburg syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019527 MONDO:0007179 True undifferentiated connective tissue syndrome autoimmune disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019532 MONDO:0020108 True autoimmune hemolytic anemia, warm type autoimmune hemolytic anemia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019537 MONDO:0019050 True hemoglobin D disease inherited hemoglobinopathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0019542 MONDO:0100192 True acute liver failure liver failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019562 MONDO:0019340 True localized scleroderma scleroderma UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0019563 MONDO:0002254 True CREST syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0019569 MONDO:0016006 True Cockayne syndrome type 1 Cockayne syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0019570 MONDO:0016006 True Cockayne syndrome type 2 Cockayne syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0019600 MONDO:0021190 True xeroderma pigmentosum DNA repair disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019609 MONDO:0019234 True Zellweger spectrum disorders peroxisome biogenesis disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0019610 MONDO:0021058 True Zollinger-Ellison syndrome neoplastic syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019613 MONDO:0006373 True non-functioning pituitary adenoma pituitary gland adenoma UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0019618 MONDO:0002254 True Sheehan syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0019622 MONDO:0002429 True non-specific interstitial pneumonia idiopathic interstitial pneumonia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0019636 MONDO:0018470 True renal agenesis, unilateral renal agenesis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019665 MONDO:0000845 True monostotic fibrous dysplasia fibrous dysplasia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019722 MONDO:0005240 True glomerular disorder kidney disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019734 MONDO:0019127 True juvenile polymyositis polymyositis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019735 MONDO:0002254 True polymyalgia rheumatica syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0019735 MONDO:0005554 True polymyalgia rheumatica rheumatic disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0019737 MONDO:0001531 True thrombotic microangiopathy blood coagulation disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019740 MONDO:0018896 True acquired thrombotic thrombocytopenic purpura thrombotic thrombocytopenic purpura UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019751 MONDO:0002254 True autoinflammatory syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019753 MONDO:0015564 True localized Castleman disease Castleman disease UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019754 MONDO:0015564 True multicentric Castleman disease Castleman disease UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0019781 MONDO:0021636 True astrocytoma (excluding glioblastoma) astrocytic tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019783 MONDO:0005041 True neovascular glaucoma glaucoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0019784 MONDO:0016877 True 12q14 microdeletion syndrome partial deletion of the long arm of chromosome 12 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019786 MONDO:0015159 True severe intellectual disability-epilepsy-anal anomalies-distal phalangeal hypoplasia multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019789 MONDO:0019296 True cytophagic histiocytic panniculitis subcutaneous tissue disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019790 MONDO:0005071 True neuroleptic malignant syndrome nervous system disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0019791 MONDO:0016798 True recessive mitochondrial ataxia syndrome ataxia neuropathy spectrum UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019791 MONDO:0020044 True recessive mitochondrial ataxia syndrome autosomal recessive metabolic cerebellar ataxia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019792 MONDO:0020380 True autosomal dominant cerebellar ataxia type I autosomal dominant cerebellar ataxia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019793 MONDO:0020380 True autosomal dominant cerebellar ataxia type III autosomal dominant cerebellar ataxia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019794 MONDO:0020380 True autosomal dominant cerebellar ataxia type IV autosomal dominant cerebellar ataxia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019797 MONDO:0015483 True acrodysostosis mandibulofacial dysostosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019797 MONDO:0018234 True acrodysostosis dysostosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0019797 MONDO:0019695 True acrodysostosis acromelic dysplasia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019801 MONDO:0015128 True acute adrenal insufficiency primary adrenal insufficiency UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019802 MONDO:0015183 True secondary short bowel syndrome short bowel syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019787 MONDO:0020598 True autoimmune enteropathy malabsorption syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019790 MONDO:0002254 True neuroleptic malignant syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0019790 MONDO:0005071 True neuroleptic malignant syndrome nervous system disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0019803 MONDO:0002300 True angioma serpiginosum dermis tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0019803 MONDO:0003110 True angioma serpiginosum skin hemangioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0019803 MONDO:0016231 True angioma serpiginosum capillary malformation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019803 MONDO:0019293 True angioma serpiginosum skin vascular disease UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0019804 MONDO:0002567 True tracheomalacia tracheal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0019805 MONDO:0001240 True twin to twin transfusion syndrome neonatal anemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0019807 MONDO:0019512 True mesocardia congenital heart malformation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019808 MONDO:0017735 True aortic valve atresia congenital aortic valve stenosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019810 MONDO:0017396 True toxic epidermal necrolysis toxic dermatosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019811 MONDO:0020289 True tricuspid valve agenesis congenital tricuspid malformation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019813 MONDO:0020289 True congenital tricuspid stenosis congenital tricuspid malformation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019814 MONDO:0020289 True straddling or overriding tricuspid valve congenital tricuspid malformation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019815 MONDO:0020289 True accessory tricuspid valve tissue congenital tricuspid malformation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019817 MONDO:0016582 True congenital mitral valve insufficiency and/or stenosis congenital mitral malformation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019818 MONDO:0016582 True cleft mitral valve congenital mitral malformation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019819 MONDO:0019818 True double-orifice mitral valve cleft mitral valve UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019820 MONDO:0019512 True univentricular cardiopathy congenital heart malformation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019823 MONDO:0020292 True premature closure of the arterial duct congenital anomaly of the great arteries UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019824 MONDO:0015127 True non-acquired pituitary hormone deficiency pituitary deficiency UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019824 MONDO:0015514 True non-acquired pituitary hormone deficiency hereditary endocrine growth disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019825 MONDO:0015203 True congenital coronary artery aneurysm coronary artery congenital malformation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019828 MONDO:0019824 True pituitary stalk interruption syndrome non-acquired pituitary hormone deficiency UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019832 MONDO:0015127 True acquired pituitary hormone deficiency pituitary deficiency UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019835 MONDO:0019832 True primary hypophysitis acquired pituitary hormone deficiency UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019838 MONDO:0019835 True adenohypophysitis primary hypophysitis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019839 MONDO:0019835 True panhypophysitis primary hypophysitis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019845 MONDO:0019832 True iatrogenic or traumatic pituitary deficiency acquired pituitary hormone deficiency UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019846 MONDO:0015790 True acquired central diabetes insipidus central diabetes insipidus UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019857 MONDO:0016555 True congenital hypothyroidism due to transplacental passage of maternal TSH-binding inhibitory antibodies transient congenital hypothyroidism due to maternal factor UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019858 MONDO:0018612 True idiopathic congenital hypothyroidism congenital hypothyroidism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019862 MONDO:0018677 True levocardia visceral heterotaxy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019870 MONDO:0017012 True distal trisomy 1p36 partial duplication of the short arm of chromosome 1 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019871 MONDO:0016939 True distal trisomy 2p partial duplication of the short arm of chromosome 2 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019872 MONDO:0016940 True distal trisomy 3p partial duplication of the short arm of chromosome 3 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019873 MONDO:0016941 True 4p16.3 microduplication syndrome partial duplication of the short arm of chromosome 4 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019873 MONDO:0019716 True 4p16.3 microduplication syndrome overgrowth syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019874 MONDO:0016944 True distal trisomy 7p partial duplication of the short arm of chromosome 7 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019875 MONDO:0007534 True Beckwith-Wiedemann syndrome due to 11p15 microduplication Beckwith-Wiedemann syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019875 MONDO:0016948 True Beckwith-Wiedemann syndrome due to 11p15 microduplication partial duplication of the short arm of chromosome 11 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019877 MONDO:0016953 True distal trisomy 2q partial duplication of the long arm of chromosome 2 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019878 MONDO:0016954 True 3q26 microduplication syndrome partial duplication of the long arm of chromosome 3 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019879 MONDO:0016955 True distal trisomy 4q partial duplication of the long arm of chromosome 4 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019880 MONDO:0016956 True distal trisomy 5q partial trisomy of the long arm of chromosome 5 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019881 MONDO:0016957 True distal trisomy 6q partial duplication of the long arm of chromosome 6 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019882 MONDO:0016959 True distal trisomy 8q partial duplication of the long arm of chromosome 8 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019883 MONDO:0016960 True distal trisomy 9q partial trisomy of the long arm of chromosome 9 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019884 MONDO:0016961 True distal trisomy 10q partial duplication of the long arm of chromosome 10 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019885 MONDO:0022173 True distal trisomy 11q chromosome 11q trisomy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019886 MONDO:0022177 True distal trisomy 13q chromosome 13q trisomy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019887 MONDO:0016966 True distal trisomy 16q partial trisomy of the long arm of chromosome 16 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019888 MONDO:0016970 True distal trisomy 20q partial trisomy of the long arm of chromosome 20 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019889 MONDO:0016972 True distal trisomy 22q partial duplication of the long arm of chromosome 22 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019890 MONDO:0016960 True non-distal trisomy 9q partial trisomy of the long arm of chromosome 9 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019892 MONDO:0016889 True distal monosomy 7p partial deletion of the short arm of chromosome 7 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019893 MONDO:0016897 True distal monosomy 19p13.3 partial deletion of the short arm of chromosome 19 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019895 MONDO:0016903 True distal monosomy 4q partial deletion of the long arm of chromosome 4 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019896 MONDO:0016908 True Kleefstra syndrome due to 9q34 microdeletion partial monosomy of the long arm of chromosome 9 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019897 MONDO:0016877 True distal monosomy 12q partial deletion of the long arm of chromosome 12 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019898 MONDO:0016912 True distal monosomy 14q partial deletion of the long arm of chromosome 14 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019900 MONDO:0016877 True non-distal monosomy 12q partial deletion of the long arm of chromosome 12 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019902 MONDO:0016911 True monosomy 13q34 partial deletion of the long arm of chromosome 13 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019913 MONDO:0008394 True silver-Russell syndrome due to maternal uniparental disomy of chromosome 7 Silver-Russell syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019915 MONDO:0014541 True maternal uniparental disomy of chromosome 14 motor developmental delay due to 14q32.2 paternally expressed gene defect UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019923 MONDO:0007534 True Beckwith-Wiedemann syndrome due to paternal uniparental disomy of chromosome 11 Beckwith-Wiedemann syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019926 MONDO:0019852 True X small rings inherited primary ovarian failure UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019928 MONDO:0017975 True 48,XXXY syndrome sex chromosome disorder of sex development UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019929 MONDO:0017975 True 49,XXXXY syndrome sex chromosome disorder of sex development UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019933 MONDO:0006793 True acromegaly hyperpituitarism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0019934 MONDO:0019040 True polyploidy chromosomal disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019941 MONDO:0015364 True hereditary sensory and autonomic neuropathy type 2 hereditary sensory and autonomic neuropathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0019942 MONDO:0003939 True distal arthrogryposis muscle tissue disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0019942 MONDO:0015225 True distal arthrogryposis arthrogryposis syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019944 MONDO:0015924 True Eisenmenger syndrome pulmonary arterial hypertension UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019948 MONDO:0019952 True reducing body myopathy congenital myopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0019950 MONDO:0020121 True congenital muscular dystrophy muscular dystrophy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0019951 MONDO:0016187 True rigid spine syndrome qualitative or quantitative defects of desmin UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019951 MONDO:0016197 True rigid spine syndrome qualitative or quantitative defects of selenoprotein N1 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019951 MONDO:0019950 True rigid spine syndrome congenital muscular dystrophy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019952 MONDO:0005336 True congenital myopathy myopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0019803 MONDO:0003110 True angioma serpiginosum skin hemangioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0019803 MONDO:0019293 True angioma serpiginosum skin vascular disease UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0019804 MONDO:0002567 True tracheomalacia tracheal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0019808 MONDO:0005453 True aortic valve atresia congenital heart disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019809 MONDO:0005648 True congenital aortic valve insufficiency aortic valve insufficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019828 MONDO:0002254 True pituitary stalk interruption syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019928 MONDO:0002254 True 48,XXXY syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019929 MONDO:0002254 True 49,XXXXY syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019944 MONDO:0002254 True Eisenmenger syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019954 MONDO:0000386 True pancreatic neuroendocrine tumor digestive system neuroendocrine tumor, grade 1/2 UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019954 MONDO:0005815 True pancreatic neuroendocrine tumor pancreatic neuroendocrine neoplasm UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019955 MONDO:0019954 True GRFoma pancreatic neuroendocrine tumor UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019956 MONDO:0005560 True encephalitis brain disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0019957 MONDO:0019954 True PPoma pancreatic neuroendocrine tumor UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019959 MONDO:0019954 True glucagonoma pancreatic neuroendocrine tumor UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019960 MONDO:0019954 True VIPoma pancreatic neuroendocrine tumor UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019962 MONDO:0002108 True thyroid lymphoma thyroid cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0019962 MONDO:0017207 True thyroid lymphoma primary organ-specific lymphoma UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019963 MONDO:0019496 True bronchial endocrine tumor neuroendocrine neoplasm UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019964 MONDO:0005197 True thymic neuroendocrine tumor thymus neoplasm UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019964 MONDO:0019496 True thymic neuroendocrine tumor neuroendocrine neoplasm UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019967 MONDO:0018381 True Kienbock disease osteochondrosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019969 MONDO:0018381 True panner disease osteochondrosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019970 MONDO:0018381 True Sinding-Larsen-Johansson disease osteochondrosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019975 MONDO:0006873 True pellagra nutritional deficiency disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0019978 MONDO:0002254 True Robinow syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0019978 MONDO:0018230 True Robinow syndrome skeletal dysplasia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019979 MONDO:0019637 True renal hypoplasia, unilateral renal hypoplasia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019980 MONDO:0019637 True renal hypoplasia, bilateral renal hypoplasia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019981 MONDO:0015988 True unilateral multicystic dysplastic kidney multicystic dysplastic kidney UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019982 MONDO:0015988 True bilateral multicystic dysplastic kidney multicystic dysplastic kidney UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019984 MONDO:0017609 True renal tubular dysgenesis due to twin-twin transfusion renal tubular dysgenesis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019985 MONDO:0017609 True drug-related renal tubular dysgenesis renal tubular dysgenesis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019988 MONDO:0019641 True pauci-immune glomerulonephritis with ANCA Pauci-immune glomerulonephritis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019989 MONDO:0019641 True pauci-immune glomerulonephritis without ANCA Pauci-immune glomerulonephritis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019990 MONDO:0019605 True non-amyloid fibrillary glomerulopathy immunotactoid or fibrillary glomerulopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019991 MONDO:0019605 True immunotactoid glomerulopathy immunotactoid or fibrillary glomerulopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019992 MONDO:0004689 True pseudohypoparathyroidism inborn metal metabolism disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0019992 MONDO:0015327 True pseudohypoparathyroidism developmental anomaly of metabolic origin UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019992 MONDO:0015962 True pseudohypoparathyroidism inherited renal tubular disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019992 MONDO:0016165 True pseudohypoparathyroidism hereditary hypoparathyroidism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020007 MONDO:0020292 True absence of the pulmonary artery congenital anomaly of the great arteries UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020022 MONDO:0019755 True central nervous system malformation developmental defect during embryogenesis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020040 MONDO:0002145 True 46,XY disorder of sex development disorder of sexual differentiation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020043 MONDO:0015244 True autosomal recessive congenital cerebellar ataxia autosomal recessive cerebellar ataxia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020044 MONDO:0015244 True autosomal recessive metabolic cerebellar ataxia autosomal recessive cerebellar ataxia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020046 MONDO:0015244 True autosomal recessive degenerative and progressive cerebellar ataxia autosomal recessive cerebellar ataxia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020047 MONDO:0015244 True autosomal recessive syndromic cerebellar ataxia autosomal recessive cerebellar ataxia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020049 MONDO:0019040 True autosomal anomaly chromosomal disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020058 MONDO:0019040 True gonosome anomaly chromosomal disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020064 MONDO:0016581 True pulmonary valve agenesis conotruncal heart malformations UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020065 MONDO:0044807 True combined dystonia inherited dystonia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020066 MONDO:0019755 True Ehlers-Danlos syndrome developmental defect during embryogenesis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020070 MONDO:0015650 True neonatal epilepsy syndrome epilepsy syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020071 MONDO:0015650 True infantile epilepsy syndrome epilepsy syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020072 MONDO:0015650 True childhood-onset epilepsy syndrome epilepsy syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020073 MONDO:0015650 True adolescent-onset epilepsy syndrome epilepsy syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020074 MONDO:0020072 True progressive myoclonus epilepsy childhood-onset epilepsy syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020074 MONDO:0020073 True progressive myoclonus epilepsy adolescent-onset epilepsy syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020074 MONDO:0100036 True progressive myoclonus epilepsy variable age onset epilepsy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0020075 MONDO:0019182 True hereditary non-syndromic obesity inherited obesity UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020076 MONDO:0005170 True myeloproliferative neoplasm myeloid neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0020076 MONDO:0015756 True myeloproliferative neoplasm myeloid hemopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019954 MONDO:0005815 True pancreatic neuroendocrine tumor pancreatic neuroendocrine neoplasm UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019956 MONDO:0005560 True encephalitis brain disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0019959 MONDO:0019954 True glucagonoma pancreatic neuroendocrine tumor UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019962 MONDO:0002108 True thyroid lymphoma thyroid cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0019962 MONDO:0017207 True thyroid lymphoma primary organ-specific lymphoma UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019978 MONDO:0002254 True Robinow syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0019991 MONDO:0002462 True immunotactoid glomerulopathy glomerulonephritis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020010 MONDO:0005071 True infectious disorder of the nervous system nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020010 MONDO:0005550 True infectious disorder of the nervous system infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020040 MONDO:0002145 True 46,XY disorder of sex development disorder of sexual differentiation UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020066 MONDO:0002254 True Ehlers-Danlos syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0020067 MONDO:0019956 True infectious encephalitis encephalitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020067 MONDO:0024619 True infectious encephalitis central nervous system infectious disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020076 MONDO:0005170 True myeloproliferative neoplasm myeloid neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0020076 MONDO:0021138 True myeloproliferative neoplasm bone marrow cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020077 MONDO:0015756 True myelodysplastic/myeloproliferative disease myeloid hemopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020082 MONDO:0006247 True dendritic cell tumor histiocytic and dendritic cell neoplasm UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020083 MONDO:0015757 True immunodeficiency-associated lymphoproliferative disease lymphoid hemopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020088 MONDO:0020087 True familial partial lipodystrophy hereditary lipodystrophy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020088 MONDO:0027767 True familial partial lipodystrophy partial lipodystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0020099 MONDO:0015194 True inherited sideroblastic anemia sideroblastic anemia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020108 MONDO:0000602 True autoimmune hemolytic anemia autoimmune disorder of blood UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0020108 MONDO:0003664 True autoimmune hemolytic anemia hemolytic anemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0020112 MONDO:0016624 True vitamin B12- and folate-independent constitutional megaloblastic anemia inherited deficiency anemia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020113 MONDO:0015610 True primary acquired red cell aplasia acquired aplastic anemia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020115 MONDO:0005571 True secondary polycythemia polycythemia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020119 MONDO:0000508 True X-linked syndromic intellectual disability syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0020121 MONDO:0005336 True muscular dystrophy myopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0020121 MONDO:0019056 True muscular dystrophy neuromuscular disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0020122 MONDO:0016105 True acquired idiopathic inflammatory myopathy acquired skeletal muscle disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020124 MONDO:0019056 True neuromuscular junction disease neuromuscular disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0020128 MONDO:0005559 True motor neuron disorder neurodegenerative disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0020128 MONDO:0019056 True motor neuron disorder neuromuscular disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0020129 MONDO:0020128 True acquired motor neuron disease motor neuron disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020135 MONDO:0020022 True pontocerebellar hypoplasia central nervous system malformation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020143 MONDO:0005560 True cerebral lipidosis with dementia brain disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0020143 MONDO:0015547 True cerebral lipidosis with dementia hereditary dementia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020088 MONDO:0027767 True familial partial lipodystrophy partial lipodystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0020108 MONDO:0003664 True autoimmune hemolytic anemia hemolytic anemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0020110 MONDO:0005087 True pulmonary agenesis respiratory system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020115 MONDO:0005571 True secondary polycythemia polycythemia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020121 MONDO:0005336 True muscular dystrophy myopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0020123 MONDO:0005336 True metabolic myopathy myopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020179 MONDO:0005073 True palpebral nevus melanocytic nevus UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020204 MONDO:0006170 True conjunctival tumor conjunctival disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020204 MONDO:0021220 True conjunctival tumor eye neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020212 MONDO:0018102 True superficial corneal dystrophy corneal dystrophy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020213 MONDO:0018102 True stromal corneal dystrophy corneal dystrophy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0020214 MONDO:0018102 True posterior corneal dystrophy corneal dystrophy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020250 MONDO:0020249 True autosomal dominant optic atrophy hereditary optic neuropathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020283 MONDO:0002661 True uveitis uveal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0020290 MONDO:0002078 True familial atrioventricular septal defect heart septal defect UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0020291 MONDO:0019820 True hypoplastic right heart syndrome univentricular cardiopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020292 MONDO:0019512 True congenital anomaly of the great arteries congenital heart malformation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020297 MONDO:0021060 True Noonan syndrome and Noonan-related syndrome RASopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020298 MONDO:0008300 True Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 Prader-Willi syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020300 MONDO:0002612 True autosomal dominant nocturnal frontal lobe epilepsy frontal lobe epilepsy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0020300 MONDO:0017704 True autosomal dominant nocturnal frontal lobe epilepsy familial partial epilepsy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020301 MONDO:0008300 True Prader-Willi syndrome due to paternal 15q11q13 deletion Prader-Willi syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020301 MONDO:0016913 True Prader-Willi syndrome due to paternal 15q11q13 deletion partial deletion of the long arm of chromosome 15 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020302 MONDO:0007113 True Angelman syndrome due to maternal 15q11q13 deletion Angelman syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020302 MONDO:0016913 True Angelman syndrome due to maternal 15q11q13 deletion partial deletion of the long arm of chromosome 15 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020303 MONDO:0007113 True Angelman syndrome due to paternal uniparental disomy of chromosome 15 Angelman syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020304 MONDO:0019935 True isochromosomy Yp isochromosome Y UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020305 MONDO:0019935 True isochromosomy Yq isochromosome Y UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020307 MONDO:0007558 True benign childhood occipital epilepsy, Panayiotopoulos type benign occipital epilepsy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020308 MONDO:0007558 True benign childhood occipital epilepsy, Gastaut type benign occipital epilepsy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020310 MONDO:0017704 True familial focal epilepsy with variable foci familial partial epilepsy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020311 MONDO:0001014 True chronic myelomonocytic leukemia chronic leukemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0020242 MONDO:0019118 True hereditary macular dystrophy inherited retinal dystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020250 MONDO:0043878 True autosomal dominant optic atrophy hereditary optic atrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020283 MONDO:0002661 True uveitis uveal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0020290 MONDO:0002078 True familial atrioventricular septal defect heart septal defect UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0020291 MONDO:0002254 True hypoplastic right heart syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0020295 MONDO:0005453 True congenital pulmonary veins anomaly congenital heart disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020296 MONDO:0024239 True congenital arteriovenous fistula congenital anomaly of cardiovascular system UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020311 MONDO:0006311 True chronic myelomonocytic leukemia myelodysplastic/myeloproliferative neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0020311 MONDO:0020077 True chronic myelomonocytic leukemia myelodysplastic/myeloproliferative disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020316 MONDO:0018874 True acute myeloid leukemia with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22) acute myeloid leukemia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020317 MONDO:0018874 True acute myeloid leukemia with 11q23 abnormalities acute myeloid leukemia UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020320 MONDO:0015667 True acute myeloblastic leukemia with maturation acute myeloid leukemia by FAB classification UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020321 MONDO:0019460 True acute undifferentiated leukemia acute leukemia of ambiguous lineage UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020317 MONDO:0018874 True acute myeloid leukemia with 11q23 abnormalities acute myeloid leukemia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020320 MONDO:0015667 True acute myeloblastic leukemia with maturation acute myeloid leukemia by FAB classification UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020321 MONDO:0019460 True acute undifferentiated leukemia acute leukemia of ambiguous lineage UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020322 MONDO:0020743 True acute biphenotypic leukemia mixed phenotype acute leukemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020323 MONDO:0000951 True primary mediastinal large B-cell lymphoma thymus lymphoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0020323 MONDO:0018905 True primary mediastinal large B-cell lymphoma diffuse large B-cell lymphoma UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0020324 MONDO:0018905 True intravascular large B-cell lymphoma diffuse large B-cell lymphoma UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0020323 MONDO:0018905 True primary mediastinal large B-cell lymphoma diffuse large B-cell lymphoma UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0020324 MONDO:0018905 True intravascular large B-cell lymphoma diffuse large B-cell lymphoma UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0020325 MONDO:0000430 True anaplastic large cell lymphoma mature T-cell and NK-cell non-Hodgkin lymphoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0020326 MONDO:0018897 True lymphomatoid papulosis primary cutaneous CD30+ T-cell lymphoproliferative disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020327 MONDO:0009348 True classic Hodgkin lymphoma, nodular sclerosis type classic Hodgkin lymphoma UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020331 MONDO:0016586 True indolent systemic mastocytosis systemic mastocytosis UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0020332 MONDO:0016586 True systemic mastocytosis with an associated clonal hematologic non-mast cell lineage disease systemic mastocytosis UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0020333 MONDO:0016586 True aggressive systemic mastocytosis systemic mastocytosis UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0020334 MONDO:0005059 True mast cell leukemia leukemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0020334 MONDO:0016586 True mast cell leukemia systemic mastocytosis UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0020336 MONDO:0016830 True autosomal dominant Emery-Dreifuss muscular dystrophy Emery-Dreifuss muscular dystrophy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020336 MONDO:0021106 True autosomal dominant Emery-Dreifuss muscular dystrophy laminopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020337 MONDO:0019403 True congenital dyserythropoietic anemia type 1 congenital dyserythropoietic anemia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0020338 MONDO:0020113 True adult pure red cell aplasia primary acquired red cell aplasia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020340 MONDO:0017091 True bilateral perisylvian polymicrogyria bilateral polymicrogyria UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020341 MONDO:0002320 True periventricular nodular heterotopia congenital nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0020341 MONDO:0016292 True periventricular nodular heterotopia nodular neuronal heterotopia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020344 MONDO:0018940 True postsynaptic congenital myasthenic syndrome congenital myasthenic syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020347 MONDO:0016218 True acute inflammatory demyelinating polyradiculoneuropathy Guillain-Barre syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020348 MONDO:0016218 True acute motor and sensory axonal neuropathy Guillain-Barre syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020349 MONDO:0016218 True acute motor axonal neuropathy Guillain-Barre syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020352 MONDO:0007803 True multiple system atrophy, parkinsonian type multiple system atrophy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020359 MONDO:0007410 True congenital symblepharon isolated cryptophthalmia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0020360 MONDO:0007410 True complete cryptophthalmia isolated cryptophthalmia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0020361 MONDO:0007410 True partial cryptophthalmia isolated cryptophthalmia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0020362 MONDO:0007946 True inverse Marcus-Gunn phenomenon jaw-winking syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020363 MONDO:0020212 True honey-droplet corneal dystrophy superficial corneal dystrophy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020364 MONDO:0020214 True posterior polymorphous corneal dystrophy posterior corneal dystrophy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020365 MONDO:0020214 True congenital hereditary endothelial dystrophy type I posterior corneal dystrophy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020367 MONDO:0005338 True juvenile open angle glaucoma open-angle glaucoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0020367 MONDO:0018174 True juvenile open angle glaucoma hereditary glaucoma UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020369 MONDO:0018102 True Chandler syndrome corneal dystrophy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0020369 MONDO:0018988 True Chandler syndrome iridocorneal endothelial syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020370 MONDO:0018988 True Cogan-Reese syndrome iridocorneal endothelial syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020371 MONDO:0018988 True essential iris atrophy iridocorneal endothelial syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020372 MONDO:0020379 True early-onset sutural cataract early-onset zonular cataract UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020373 MONDO:0020377 True early-onset anterior polar cataract early-onset partial cataract UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020374 MONDO:0020377 True cerulean cataract early-onset partial cataract UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020376 MONDO:0020379 True early-onset nuclear cataract early-onset zonular cataract UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020377 MONDO:0011060 True early-onset partial cataract early-onset non-syndromic cataract UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020379 MONDO:0020377 True early-onset zonular cataract early-onset partial cataract UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020380 MONDO:0000426 True autosomal dominant cerebellar ataxia autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0020380 MONDO:0015547 True autosomal dominant cerebellar ataxia hereditary dementia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020380 MONDO:0024237 True autosomal dominant cerebellar ataxia inherited neurodegenerative disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020381 MONDO:0003004 True patterned macular dystrophy macular degeneration UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0020382 MONDO:0018973 True multifocal pattern dystrophy simulating fundus flavimaculatus patterned dystrophy of the retinal pigment epithelium UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020383 MONDO:0018973 True fundus pulverulentus patterned dystrophy of the retinal pigment epithelium UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020385 MONDO:0019443 True congenitally uncorrected transposition of the great arteries with coarctation dextro-looped transposition of the great arteries UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020386 MONDO:0018089 True double outlet right ventricle with subaortic or doubly committed ventricular septal defect with pulmonary stenosis double outlet right ventricle UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020387 MONDO:0018089 True double outlet right ventricle with subpulmonary ventricular septal defect double outlet right ventricle UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020388 MONDO:0018089 True double outlet right ventricle with non-committed subpulmonary ventricular septal defect double outlet right ventricle UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020389 MONDO:0020064 True pulmonary valve agenesis-ventricular septal defect-persistent ductus arteriosus syndrome pulmonary valve agenesis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020390 MONDO:0015239 True pulmonary artery coming from patent ductus arteriosus abnormal origin of the pulmonary artery UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020391 MONDO:0015239 True pulmonary artery coming from the aorta abnormal origin of the pulmonary artery UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020393 MONDO:0017727 True discrete fibromuscular subaortic stenosis fixed subaortic stenosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020394 MONDO:0017727 True tunnel subaortic stenosis fixed subaortic stenosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020395 MONDO:0017865 True valvar pulmonary stenosis congenital pulmonary valve stenosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020396 MONDO:0020289 True anomaly of the tricuspid valve chordae congenital tricuspid malformation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020397 MONDO:0020289 True parachute tricuspid valve congenital tricuspid malformation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020398 MONDO:0019817 True congenital mitral stenosis congenital mitral valve insufficiency and/or stenosis SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020399 MONDO:0019817 True congenital hypoplasia of the mitral valve annulus congenital mitral valve insufficiency and/or stenosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020400 MONDO:0019817 True congenital supravalvular mitral ring congenital mitral valve insufficiency and/or stenosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020401 MONDO:0019817 True congenital unguarded mitral orifice congenital mitral valve insufficiency and/or stenosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020402 MONDO:0019817 True congenital accessory mitral valve tissue congenital mitral valve insufficiency and/or stenosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020403 MONDO:0019817 True congenital mitral valve agenesis congenital mitral valve insufficiency and/or stenosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020404 MONDO:0019817 True shone complex congenital mitral valve insufficiency and/or stenosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020405 MONDO:0019818 True straddling and/or overriding mitral valve cleft mitral valve UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020407 MONDO:0015273 True complete atrioventricular canal-ventricle hypoplasia syndrome complete atrioventricular canal UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020408 MONDO:0015273 True complete atrioventricular canal-tetralogy of fallot syndrome complete atrioventricular canal UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020410 MONDO:0018082 True aorto-right ventricular tunnel aorto-ventricular tunnel UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020411 MONDO:0018082 True aorto-left ventricular tunnel aorto-ventricular tunnel UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020412 MONDO:0020292 True congenital patent ductus arteriosus aneurysm congenital anomaly of the great arteries UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020413 MONDO:0015236 True encircling double aortic arch aortic arch defects UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020414 MONDO:0015236 True persistent fifth aortic arch aortic arch defects UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020415 MONDO:0015236 True Kommerell diverticulum aortic arch defects UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020416 MONDO:0015236 True Neuhauser anomaly aortic arch defects UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020417 MONDO:0015236 True right aortic arch aortic arch defects UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020418 MONDO:0015236 True dysphagia lusoria aortic arch defects UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020419 MONDO:0020292 True pulmonary artery hypoplasia congenital anomaly of the great arteries UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020420 MONDO:0020292 True pulmonary branch stenosis congenital anomaly of the great arteries UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020423 MONDO:0015203 True stenosis or atrophy of the coronary ostium coronary artery congenital malformation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020425 MONDO:0015203 True abnormal number of coronary ostia coronary artery congenital malformation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020426 MONDO:0015203 True malposition of the coronary ostium coronary artery congenital malformation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020427 MONDO:0019512 True Laubry-Pezzi syndrome congenital heart malformation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020428 MONDO:0019512 True congenital Gerbode defect congenital heart malformation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020429 MONDO:0015450 True cor triatriatum dexter triatrial heart UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020430 MONDO:0015450 True cor triatriatum sinister triatrial heart UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020431 MONDO:0019512 True juxtaposition of the atrial appendages congenital heart malformation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020432 MONDO:0019512 True ectasia of the right atrial appendage congenital heart malformation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020433 MONDO:0019512 True ectasia of the left appendage congenital heart malformation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020434 MONDO:0006664 True atrial septal defect, ostium secundum type atrial septal defect UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020435 MONDO:0006664 True atrial septal defect, coronary sinus type atrial septal defect UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020436 MONDO:0006664 True atrial septal defect, sinus venosus type atrial septal defect UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020437 MONDO:0006664 True atrial septal defect, ostium primum type atrial septal defect UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020438 MONDO:0019512 True atrial septal aneurysm congenital heart malformation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020439 MONDO:0006664 True patent foramen ovale atrial septal defect UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0020440 MONDO:0019829 True persistent left superior vena cava connecting to the left-sided atrium congenital anomaly of superior vena cava UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020441 MONDO:0019829 True right superior vena cava connecting to left-sided atrium congenital anomaly of superior vena cava UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020442 MONDO:0019829 True left superior vena cava persisting to left-sided atrium congenital anomaly of superior vena cava UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020443 MONDO:0019829 True absence of innominate vein congenital anomaly of superior vena cava UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020444 MONDO:0019829 True subaortic course of innominate vein congenital anomaly of superior vena cava UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020445 MONDO:0019829 True agenesis of the superior vena cava congenital anomaly of superior vena cava UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020448 MONDO:0019830 True right inferior vena cava connecting to left-sided atrium congenital anomaly of the inferior vena cava UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020449 MONDO:0019830 True persistent eustachian valve congenital anomaly of the inferior vena cava UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020450 MONDO:0019830 True azygos continuation of the inferior vena cava congenital anomaly of the inferior vena cava UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020451 MONDO:0019830 True congenital stenosis of the inferior vena cava congenital anomaly of the inferior vena cava UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020452 MONDO:0019830 True inferior vena cava interruption congenital anomaly of the inferior vena cava UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020453 MONDO:0017705 True congenital partial pulmonary venous return anomaly congenital pulmonary venous return anomaly UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020454 MONDO:0017300 True congenital complete agenesis of pericardium congenital pericardium anomaly UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020455 MONDO:0017300 True congenital partial agenesis of pericardium congenital pericardium anomaly UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020456 MONDO:0017300 True pleuro-pericardial cyst congenital pericardium anomaly UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020458 MONDO:0019236 True hemolytic anemia due to erythrocyte adenosine deaminase overproduction inborn disorder of purine metabolism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020459 MONDO:0019050 True unstable hemoglobin disease inherited hemoglobinopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020463 MONDO:0020161 True isolated congenital ectropion congenital ectropion UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020466 MONDO:0019499 True monosomy X Turner syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020470 MONDO:0015161 True 49,XYYYY syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020472 MONDO:0019499 True Turner syndrome due to structural X chromosome anomalies Turner syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020474 MONDO:0018230 True cheirospondyloenchondromatosis skeletal dysplasia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020475 MONDO:0019287 True dermotrichic syndrome ectodermal dysplasia syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020476 MONDO:0017704 True mesial temporal lobe epilepsy with hippocampal sclerosis familial partial epilepsy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020478 MONDO:0016387 True Leber plus disease mitochondrial oxidative phosphorylation disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020480 MONDO:0004689 True sulfite oxidase deficiency due to molybdenum cofactor deficiency inborn metal metabolism disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0020480 MONDO:0019358 True sulfite oxidase deficiency due to molybdenum cofactor deficiency encephalopathy due to sulfite oxidase deficiency UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020481 MONDO:0018959 True myotonia fluctuans potassium-aggravated myotonia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020482 MONDO:0018959 True myotonia permanens potassium-aggravated myotonia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020483 MONDO:0018959 True acetazolamide-responsive myotonia potassium-aggravated myotonia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020487 MONDO:0005823 True Pontiac fever legionellosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0020488 MONDO:0019037 True atypical progressive supranuclear palsy syndrome progressive supranuclear palsy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020491 MONDO:0002320 True subcortical band heterotopia congenital nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0020494 MONDO:0016910 True oculootodental syndrome partial deletion of the long arm of chromosome 11 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020496 MONDO:0017410 True familial porencephaly porencephaly UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0020497 MONDO:0021055 True Turcot syndrome with polyposis classic familial adenomatous polyposis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020500 MONDO:0018087 True Marburg hemorrhagic fever viral hemorrhagic fever UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020501 MONDO:0018087 True Crimean-Congo hemorrhagic fever viral hemorrhagic fever UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020502 MONDO:0018093 True yellow fever arbovirus fever UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020504 MONDO:0019052 True hereditary recurrent myoglobinuria inborn errors of metabolism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020505 MONDO:0019046 True ravine syndrome leukodystrophy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020507 MONDO:0800448 True leukoencephalopathy with vanishing white matter 1 leukoencephalopathy with vanishing white matter UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0020508 MONDO:0017987 True primary syringomyelia syringomyelia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020509 MONDO:0017987 True secondary syringomyelia syringomyelia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020510 MONDO:0020508 True idiopathic syringomyelia primary syringomyelia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020511 MONDO:0004967 True precursor B-cell acute lymphoblastic leukemia acute lymphoblastic leukemia UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0020512 MONDO:0004967 True precursor T-cell acute lymphoblastic leukemia acute lymphoblastic leukemia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020513 MONDO:0003669 True spermatocytic seminoma testicular seminoma UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0020331 MONDO:0016586 True indolent systemic mastocytosis systemic mastocytosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0020332 MONDO:0016586 True systemic mastocytosis with an associated clonal hematologic non-mast cell lineage disease systemic mastocytosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0020333 MONDO:0016586 True aggressive systemic mastocytosis systemic mastocytosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0020334 MONDO:0005059 True mast cell leukemia leukemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0020334 MONDO:0016586 True mast cell leukemia systemic mastocytosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0020338 MONDO:0001705 True adult pure red cell aplasia pure red-cell aplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020347 MONDO:0016218 True acute inflammatory demyelinating polyradiculoneuropathy Guillain-Barre syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020348 MONDO:0016218 True acute motor and sensory axonal neuropathy Guillain-Barre syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020349 MONDO:0016218 True acute motor axonal neuropathy Guillain-Barre syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020398 MONDO:0019817 True congenital mitral stenosis congenital mitral valve insufficiency and/or stenosis SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020404 MONDO:0002254 True shone complex syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020481 MONDO:0018959 True myotonia fluctuans potassium-aggravated myotonia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020487 MONDO:0005823 True Pontiac fever legionellosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0020491 MONDO:0002254 True subcortical band heterotopia syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0020501 MONDO:0018087 True Crimean-Congo hemorrhagic fever viral hemorrhagic fever UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020511 MONDO:0004967 True precursor B-cell acute lymphoblastic leukemia acute lymphoblastic leukemia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0020516 MONDO:0006451 True thymic neuroendocrine carcinoma thymic carcinoma UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020517 MONDO:0018310 True eosinophilic granuloma Langerhans cell histiocytosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020519 MONDO:0018310 True hand-Schuller-Christian disease Langerhans cell histiocytosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020525 MONDO:0016391 True transient neonatal diabetes mellitus neonatal diabetes mellitus UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0020526 MONDO:0018872 True acute megakaryoblastic leukemia in down syndrome acute megakaryoblastic leukemia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020527 MONDO:0020528 True ectopic Cushing syndrome ACTH-dependent Cushing syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0020528 MONDO:0006793 True ACTH-dependent Cushing syndrome hyperpituitarism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0020525 MONDO:0016391 True transient neonatal diabetes mellitus neonatal diabetes mellitus UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0020528 MONDO:0018912 True ACTH-dependent Cushing syndrome Cushing syndrome SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020530 MONDO:0019146 True Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR1 deficiency inherited susceptibility to mycobacterial diseases UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020532 MONDO:0000314 True spirillary rat-bite fever primary bacterial infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0020532 MONDO:0006941 True spirillary rat-bite fever rat-bite fever UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020533 MONDO:0000314 True streptobacillary rat-bite fever primary bacterial infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0020533 MONDO:0006941 True streptobacillary rat-bite fever rat-bite fever UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020535 MONDO:0017853 True house allergic alveolitis hypersensitivity pneumonitis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020538 MONDO:0018171 True malignant dysgerminomatous germ cell tumor of ovary malignant germ cell tumor of ovary UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020539 MONDO:0018201 True extragonadal non-dysgerminomatous germ cell tumor extragonadal germ cell tumor UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020540 MONDO:0021657 True ovarian gynandroblastoma ovarian sex cord-stromal tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020541 MONDO:0018172 True maligant granulosa cell tumor of ovary malignant sex cord stromal tumor of ovary UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020541 MONDO:0018172 True maligant granulosa cell tumor of ovary malignant sex cord stromal tumor of ovary UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020541 MONDO:0023283 True maligant granulosa cell tumor of ovary ovarian granulosa cell tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020542 MONDO:0018172 True malignant Sertoli-Leydig cell tumor of ovary malignant sex cord stromal tumor of ovary UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020543 MONDO:0018172 True theca steroid-producing cell malignant tumor of ovary, not further specified malignant sex cord stromal tumor of ovary UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020544 MONDO:0001881 True streptococcal toxic-shock syndrome toxic shock syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020545 MONDO:0001881 True staphylococcal toxic-shock syndrome toxic shock syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020545 MONDO:0017592 True staphylococcal toxic-shock syndrome staphylococcal toxemia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020546 MONDO:0013730 True acute graft versus host disease graft versus host disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020547 MONDO:0013730 True chronic graft versus host disease graft versus host disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020546 MONDO:0013730 True acute graft versus host disease graft versus host disease UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020547 MONDO:0013730 True chronic graft versus host disease graft versus host disease UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020549 MONDO:0006248 True invasive hydatidiform mole hydatidiform mole UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020549 MONDO:0018944 True invasive hydatidiform mole gestational trophoblastic neoplasm UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020550 MONDO:0001416 True gestational choriocarcinoma female reproductive organ cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0020550 MONDO:0005207 True gestational choriocarcinoma choriocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0020550 MONDO:0018944 True gestational choriocarcinoma gestational trophoblastic neoplasm UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0020552 MONDO:0005207 True placental site trophoblastic tumor choriocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0020552 MONDO:0018944 True placental site trophoblastic tumor gestational trophoblastic neoplasm UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0020553 MONDO:0015925 True secondary pulmonary hemosiderosis interstitial lung disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020554 MONDO:0020553 True Heiner syndrome secondary pulmonary hemosiderosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020555 MONDO:0011014 True pleuropulmonary blastoma type 1 pleuropulmonary blastoma UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020556 MONDO:0011014 True pleuropulmonary blastoma type 2 pleuropulmonary blastoma UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020557 MONDO:0011014 True pleuropulmonary blastoma type 3 pleuropulmonary blastoma UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020558 MONDO:0018993 True autosomal dominant Charcot-Marie-Tooth disease type 2K Charcot-Marie-Tooth disease type 2 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020550 MONDO:0001416 True gestational choriocarcinoma female reproductive organ cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0020550 MONDO:0005207 True gestational choriocarcinoma choriocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0020550 MONDO:0018944 True gestational choriocarcinoma gestational trophoblastic neoplasm UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0020552 MONDO:0018944 True placental site trophoblastic tumor gestational trophoblastic neoplasm UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0020555 MONDO:0011014 True pleuropulmonary blastoma type 1 pleuropulmonary blastoma UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020556 MONDO:0011014 True pleuropulmonary blastoma type 2 pleuropulmonary blastoma UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020557 MONDO:0011014 True pleuropulmonary blastoma type 3 pleuropulmonary blastoma UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020560 MONDO:0002728 True atypical teratoid rhabdoid tumor rhabdoid tumor UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0020561 MONDO:0005060 True myxoid/round cell liposarcoma liposarcoma UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020562 MONDO:0005060 True pleomorphic liposarcoma liposarcoma UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0020563 MONDO:0005060 True Dedifferentiated liposarcoma liposarcoma UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0020568 MONDO:0019147 True cutaneous myiasis myiasis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020571 MONDO:0019362 True relapsing epidemic typhus epidemic louse-borne typhus UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020572 MONDO:0019369 True complex regional pain syndrome type 2 complex regional pain syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0020562 MONDO:0005060 True pleomorphic liposarcoma liposarcoma UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0020563 MONDO:0005060 True dedifferentiated liposarcoma liposarcoma UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0020572 MONDO:0002254 True complex regional pain syndrome type 2 syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0020574 MONDO:0003000 True central nervous system nongerminomatous germ cell tumor central nervous system germ cell tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020575 MONDO:0005477 True polymorphic ventricular tachycardia ventricular tachycardia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020576 MONDO:0018882 True cutaneous vasculitis vasculitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020577 MONDO:0003751 True childhood gonadal germ cell tumor childhood germ cell tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020579 MONDO:0021166 True mucositis inflammatory disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020580 MONDO:0005040 True germinomatous germ cell tumor germ cell tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020581 MONDO:0006359 True benign PEComa neoplasm with perivascular epithelioid cell differentiation UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020581 MONDO:0044335 True benign PEComa benign soft tissue neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020582 MONDO:0021629 True benign uterine ligament neoplasm uterine ligament neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020584 MONDO:0002280 True anemia due to enzyme disorder anemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020585 MONDO:0020584 True anemia due to erythrocyte enzyme disorder anemia due to enzyme disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020586 MONDO:0002242 True factor V deficiency coagulation protein disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020587 MONDO:0018660 True factor XI deficiency hemophilia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020588 MONDO:0006359 True lung PEComa neoplasm with perivascular epithelioid cell differentiation UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020588 MONDO:0021117 True lung PEComa lung neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020589 MONDO:0018201 True cardiac germ cell tumor extragonadal germ cell tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020589 MONDO:0021209 True cardiac germ cell tumor heart neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020590 MONDO:0005113 True mycobacterial infectious disease bacterial infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020592 MONDO:0024623 True disorder of pharynx otorhinolaryngologic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020593 MONDO:0024666 True trichoblastoma benign epithelial skin neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020594 MONDO:0003569 True abducens nerve disorder cranial nerve neuropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020596 MONDO:0004993 True mucin-producing carcinoma carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020602 MONDO:0003847 True Simpson-Golabi-Behmel syndrome type 1 hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0020604 MONDO:0000425 True X-linked dominant disease X-linked disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0020605 MONDO:0000425 True X-linked recessive disease X-linked disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0020598 MONDO:0005020 True malabsorption syndrome intestinal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020599 MONDO:0002242 True acquired coagulation factor deficiency coagulation protein disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020600 MONDO:0002258 True acute pharyngitis pharyngitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020601 MONDO:0006009 True mosquito-borne viral encephalitis viral encephalitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020607 MONDO:0008323 True Liddle syndrome 1 Liddle syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0020628 MONDO:0020629 True microcephaly, growth restriction, and increased sister chromatid exchange 2 microcephaly, growth restriction and increased sister chromatid exchange UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0020633 MONDO:0004992 True anaplastic cancer cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -16000,12 +8480,14 @@ MONDO:0020635 MONDO:0020633 True anaplastic meningioma anaplastic cancer UNSUPPO MONDO:0020635 MONDO:0020634 True anaplastic meningioma grade III meningioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020635 MONDO:0021322 True anaplastic meningioma malignant tumor of meninges UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020638 MONDO:0005012 True superficial spreading melanoma cutaneous melanoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020640 MONDO:0019956 True autoimmune encephalitis encephalitis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020640 MONDO:0019956 True autoimmune encephalitis encephalitis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020641 MONDO:0005070 True respiratory tract neoplasm neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020641 MONDO:0005087 True respiratory tract neoplasm respiratory system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020644 MONDO:0003987 True lung non-Hodgkin lymphoma lung lymphoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020644 MONDO:0018908 True lung non-Hodgkin lymphoma non-Hodgkin lymphoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020645 MONDO:0017198 True autosomal dominant osteopetrosis osteopetrosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020646 MONDO:0018908 True ocular adnexal lymphoma non-Hodgkin lymphoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020649 MONDO:0004433 True warty carcinoma of the penis papillary carcinoma of the penis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020649 MONDO:0020656 True warty carcinoma of the penis human papillomavirus-related penile squamous cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020653 MONDO:0001704 True vaginal adenocarcinoma vaginal glandular neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020653 MONDO:0004970 True vaginal adenocarcinoma adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -16014,7 +8496,6 @@ MONDO:0020654 MONDO:0040679 True renal pelvis/ureter urothelial carcinoma urothe MONDO:0020656 MONDO:0018352 True human papillomavirus-related penile squamous cell carcinoma squamous cell carcinoma of penis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020656 MONDO:0020657 True human papillomavirus-related penile squamous cell carcinoma human papillomavirus-related squamous cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020657 MONDO:0005096 True human papillomavirus-related squamous cell carcinoma squamous cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020658 MONDO:0004030 True infiltrating ureter transitional cell carcinoma ureter transitional cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0020660 MONDO:0002631 True osteoblastic osteosarcoma conventional osteosarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020661 MONDO:0018078 True undifferentiated round cell sarcoma soft tissue sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020662 MONDO:0016093 True borderline ovarian serous tumor borderline epithelial tumor of ovary UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -16022,41 +8503,47 @@ MONDO:0020662 MONDO:0037255 True borderline ovarian serous tumor ovarian serous MONDO:0020663 MONDO:0020664 True malignant spindle cell neoplasm spindle cell neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020664 MONDO:0005070 True spindle cell neoplasm neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020665 MONDO:0004992 True high grade malignant neoplasm cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020667 MONDO:0008803 True Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis Antley-Bixler syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0020669 MONDO:0005289 True paranasal sinus cancer paranasal sinus neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020673 MONDO:0000473 True arterial occlusion arterial disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020675 MONDO:0005020 True ischemic bowel disorder intestinal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020678 MONDO:0005365 True sensorineural hearing loss disorder hearing loss disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020679 MONDO:0005365 True conductive hearing loss disorder hearing loss disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020680 MONDO:0002465 True acute bronchiolitis bronchiolitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020686 MONDO:0001039 True acute tonsillitis tonsillitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020690 MONDO:0004320 True adult glioblastoma adult infiltrating astrocytic neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020690 MONDO:0018177 True adult glioblastoma glioblastoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020693 MONDO:0002412 True glycogen storage disease due to liver phosphorylase kinase deficiency disorder of glycogen metabolism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020694 MONDO:0000521 True salivary gland epithelial myoepithelial carcinoma salivary gland carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020694 MONDO:0003389 True salivary gland epithelial myoepithelial carcinoma epithelial-myoepithelial carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020695 MONDO:0006497 True hypotonic cerebral palsy cerebral palsy UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020696 MONDO:0005066 True vitamin B12 deficiency metabolic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020696 MONDO:0042976 True vitamin B12 deficiency vitamin B deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020697 MONDO:0003389 True lung epithelial-myoepithelial carcinoma epithelial-myoepithelial carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020697 MONDO:0005138 True lung epithelial-myoepithelial carcinoma lung carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020712 MONDO:0010765 True 46,XY sex reversal 1 46,XY complete gonadal dysgenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0020713 MONDO:0009937 True pulmonary venoocclusive disease 1 pulmonary venoocclusive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0020716 MONDO:0010132 True familial thyroid dyshormonogenesis 1 familial thyroid dyshormonogenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0020717 MONDO:0003847 True autosomal dominant wooly hair hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0020717 MONDO:0008686 True autosomal dominant wooly hair isolated familial wooly hair disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0020721 MONDO:0000425 True X-linked sideroblastic anemia 1 X-linked disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0020721 MONDO:0017754 True X-linked sideroblastic anemia 1 inborn disorder of porphyrin metabolism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020721 MONDO:0020099 True X-linked sideroblastic anemia 1 inherited sideroblastic anemia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0020706 MONDO:0002181 True Heberden's node exostosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020707 MONDO:0005365 True central hearing loss hearing loss disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020708 MONDO:0005559 True brachial amyotrophic diplegia neurodegenerative disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020710 MONDO:0021166 True amnionitis inflammatory disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020712 MONDO:0010765 True 46,XY sex reversal 1 46,XY complete gonadal dysgenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0020713 MONDO:0009937 True pulmonary venoocclusive disease 1 pulmonary venoocclusive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0020721 MONDO:0020099 True X-linked sideroblastic anemia 1 inherited sideroblastic anemia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0020724 MONDO:0031037 True cerebral cavernous malformation 1 famililal cerebral cavernous malformations UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0020725 MONDO:0002280 True anemia due to chronic disorder anemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020726 MONDO:0000608 True tubulointerstitial kidney disease, autosomal dominant, 2 familial juvenile hyperuricemic nephropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0020726 MONDO:0008264 True tubulointerstitial kidney disease, autosomal dominant, 2 autosomal dominant medullary cystic kidney disease with or without hyperuricemia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020730 MONDO:0007275 True carpal tunnel syndrome 1 carpal tunnel syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0020733 MONDO:0008511 True proximal symphalangism 1A proximal symphalangism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0020735 MONDO:0009049 True ACTH-independent macronodular adrenal hyperplasia 1 Cushing syndrome due to macronodular adrenal hyperplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0020731 MONDO:0005108 True arbovirus infection viral infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020733 MONDO:0008511 True proximal symphalangism 1A proximal symphalangism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS MONDO:0020737 MONDO:0043878 True optic atrophy 10 with or without ataxia, intellectual disability, and seizures hereditary optic atrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0020738 MONDO:0007990 True multiple benign circumferential skin creases on limbs 1 multiple benign circumferential skin creases on limbs UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0020739 MONDO:0000212 True hypercalcemia, infantile, 1 hypercalcemia, infantile UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0020740 MONDO:0010293 True ectodermal dysplasia and immunodeficiency 1 ectodermal dysplasia and immune deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0020743 MONDO:0019460 True mixed phenotype acute leukemia acute leukemia of ambiguous lineage UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020740 MONDO:0010293 True ectodermal dysplasia and immunodeficiency 1 ectodermal dysplasia and immune deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0020743 MONDO:0019460 True mixed phenotype acute leukemia acute leukemia of ambiguous lineage UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020744 MONDO:0000467 True Mobitz type I atrioventricular block second-degree atrioventricular block UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020746 MONDO:0020937 True contractures, pterygia, and variable skeletal fusions syndrome 1B contractures, pterygia, and variable skeletal fusions syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0020747 MONDO:0008863 True sitosterolemia 1 sitosterolemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0020748 MONDO:0008863 True sitosterolemia 2 sitosterolemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0020749 MONDO:0009092 True polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 1 polycystic lipomembranous osteodysplasia with sclerosing leukoencephaly UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0020750 MONDO:0009092 True polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 2 polycystic lipomembranous osteodysplasia with sclerosing leukoencephaly UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0020751 MONDO:0021272 True orthostatic hypotension 2 inherited orthostatic hypotension UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0020756 MONDO:0000700 True migraine, familial hemiplegic, 1 familial hemiplegic migraine UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0020756 MONDO:0000700 True migraine, familial hemiplegic, 1 familial hemiplegic migraine UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS MONDO:0020760 MONDO:0002529 True skin squamous cell carcinoma in situ skin squamous cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020760 MONDO:0004641 True skin squamous cell carcinoma in situ skin carcinoma in situ UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020760 MONDO:0004693 True skin squamous cell carcinoma in situ squamous carcinoma in situ UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -16065,6 +8552,7 @@ MONDO:0020762 MONDO:0017868 True diencephalic-mesencephalic junction dysplasia s MONDO:0020763 MONDO:0020774 True Menke-Hennekam syndrome 1 Menke-Hennekam syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0020765 MONDO:0033352 True neuropathy, congenital hypomyelinating, 2 neuropathy, congenital hypomelinating UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0020766 MONDO:0033352 True neuropathy, congenital hypomyelinating, 3 neuropathy, congenital hypomelinating UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0020767 MONDO:0005693 True cauda equina syndrome with neurogenic bladder cauda equina syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020769 MONDO:0020774 True Menke-Hennekam syndrome 2 Menke-Hennekam syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0020770 MONDO:0020771 True spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 3 spinocerebellar ataxia, autosomal recessive, with axonal neuropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0020775 MONDO:0060720 True congenital disorder of glycosylation with defective fucosylation 1 congenital disorder of glycosylation with defective fucosylation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING @@ -16072,23 +8560,26 @@ MONDO:0020777 MONDO:0060720 True congenital disorder of glycosylation with defec MONDO:0020778 MONDO:0014980 True cone-rod dystrophy and hearing loss 1 cone-rod dystrophy and hearing loss UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0020780 MONDO:0014980 True cone-rod dystrophy and hearing loss 2 cone-rod dystrophy and hearing loss UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0020781 MONDO:0014960 True encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 1 encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0020782 MONDO:0002508 True chronic gingivitis gingivitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020783 MONDO:0012016 True capillary malformation-arteriovenous malformation 1 capillary malformation-arteriovenous malformation syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0020785 MONDO:0012016 True capillary malformation-arteriovenous malformation 2 capillary malformation-arteriovenous malformation syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0020787 MONDO:0014631 True hypomagnesemia, seizures, and intellectual disability 1 hypomagnesemia, seizures, and intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0020788 MONDO:0014631 True hypomagnesemia, seizures, and intellectual disability 2 hypomagnesemia, seizures, and intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0020789 MONDO:0009626 True pseudo-TORCH syndrome 1 pseudo-TORCH syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0020790 MONDO:0011810 True gaze palsy, familial horizontal, with progressive scoliosis 1 horizontal gaze palsy with progressive scoliosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0020791 MONDO:0007379 True corneal dystrophy, Meesmann, 1 Meesmann corneal dystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0020793 MONDO:0025193 True oculopharyngodistal myopathy 1 oculopharyngodistal myopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0020791 MONDO:0007379 True corneal dystrophy, Meesmann, 1 Meesmann corneal dystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0020793 MONDO:0025193 True oculopharyngodistal myopathy 1 oculopharyngodistal myopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS MONDO:0020794 MONDO:0005008 True colorectal medullary carcinoma colorectal adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020795 MONDO:0008394 True Silver-Russell syndrome 5 Silver-Russell syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0020796 MONDO:0008394 True Silver-Russell syndrome 1 Silver-Russell syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0020798 MONDO:0016390 True hypoparathyroidism, familial isolated, 2 familial hypoparathyroidism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0020799 MONDO:0005626 True basal cell neoplasm epithelial neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020800 MONDO:0002562 True demyelinating disease of central nervous system demyelinating disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020801 MONDO:0002169 True rectal medullary carcinoma rectum adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020801 MONDO:0020794 True rectal medullary carcinoma colorectal medullary carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020804 MONDO:0004993 True basal cell carcinoma carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020804 MONDO:0020799 True basal cell carcinoma basal cell neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020805 MONDO:0020799 True benign basal cell neoplasm basal cell neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020807 MONDO:0021657 True ovarian sertoli-stromal cell tumor ovarian sex cord-stromal tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020808 MONDO:0002696 True testicular sertoli cell tumor Sertoli cell tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020808 MONDO:0003125 True testicular sertoli cell tumor testicular sex cord-stromal neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -16096,35 +8587,37 @@ MONDO:0020809 MONDO:0002696 True benign sertoli cell tumor Sertoli cell tumor UN MONDO:0020813 MONDO:0020808 True benign testicular sertoli cell tumor testicular sertoli cell tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020813 MONDO:0020809 True benign testicular sertoli cell tumor benign sertoli cell tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020813 MONDO:0021447 True benign testicular sertoli cell tumor benign neoplasm of testis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020820 MONDO:0000426 True distal arthrogryposis type 2B1 autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0020820 MONDO:0011128 True distal arthrogryposis type 2B1 Sheldon-hall syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0020831 MONDO:0015161 True congenital vertebral-cardiac-renal anomalies syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020837 MONDO:0014769 True oocyte maturation defect 5 inherited oocyte maturation defect UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0020838 MONDO:0005504 True anterior nasal diphtheria diphtheria UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020843 MONDO:0001217 True pseudomembranous diphtheritic conjunctivitis pseudomembranous conjunctivitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020845 MONDO:0000090 True progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 5 progressive external ophthalmoplegia with mitochondrial DNA deletions UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0020846 MONDO:0019502 True intellectual disability, autosomal recessive 64 autosomal recessive non-syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0020846 MONDO:0019502 True intellectual disability, autosomal recessive 64 autosomal recessive non-syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS MONDO:0020848 MONDO:0020645 True osteopetrosis, autosomal dominant 3 autosomal dominant osteopetrosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0020849 MONDO:0021094 True immunodeficiency 57 immunodeficiency disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0020850 MONDO:0019502 True intellectual disability, autosomal recessive 65 autosomal recessive non-syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0020851 MONDO:0004983 True spermatogenic failure 30 spermatogenic failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0020852 MONDO:0004983 True spermatogenic failure 31 spermatogenic failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0020850 MONDO:0019502 True intellectual disability, autosomal recessive 65 autosomal recessive non-syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0020851 MONDO:0004983 True spermatogenic failure 30 spermatogenic failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0020852 MONDO:0004983 True spermatogenic failure 31 spermatogenic failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS MONDO:0020854 MONDO:0008323 True Liddle syndrome 2 Liddle syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0020855 MONDO:0004983 True spermatogenic failure 32 spermatogenic failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0020855 MONDO:0004983 True spermatogenic failure 32 spermatogenic failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS MONDO:0020856 MONDO:0000159 True bone marrow failure syndrome 4 bone marrow failure syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0020857 MONDO:0009299 True ovarian dysgenesis 7 46 XX gonadal dysgenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0021001 MONDO:0006507 True hemochromatosis type 1 hereditary hemochromatosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0021005 MONDO:0002254 True faciodigitogenital syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0021009 MONDO:0000521 True salivary gland mucoepidermoid carcinoma salivary gland carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0020857 MONDO:0009299 True ovarian dysgenesis 7 46 XX gonadal dysgenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0020920 MONDO:0005113 True escherichia coli infection bacterial infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020971 MONDO:0005297 True gonococcal urethritis urethritis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020977 MONDO:0005280 True granulomatous prostatitis prostatitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020979 MONDO:0021539 True pilosebaceous hamartoma hamartoma of skin appendage UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020980 MONDO:0020979 True hair nevus pilosebaceous hamartoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021001 MONDO:0006507 True hemochromatosis type 1 hereditary hemochromatosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0021009 MONDO:0000521 True salivary gland mucoepidermoid carcinoma salivary gland carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0021010 MONDO:0006282 True skin lymphangiosarcoma lymphangiosarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021010 MONDO:0006414 True skin lymphangiosarcoma skin sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021013 MONDO:0018053 True trichothiodystrophy 4, nonphotosensitive trichothiodystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0021018 MONDO:0015151 True autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) muscular dystrophy, limb-girdle, autosomal dominant UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0021019 MONDO:0017304 True X-linked recessive ocular albinism ocular albinism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021020 MONDO:0009044 True Crigler-Najjar syndrome type 1 Crigler-Najjar syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021022 MONDO:0017658 True hereditary hyperekplexia hyperekplexia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021022 MONDO:0019253 True hereditary hyperekplexia metabolic disease involving other neurotransmitter deficiency UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021023 MONDO:0019154 True complete androgen insensitivity syndrome androgen insensitivity syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0021029 MONDO:0021026 True hereditary sebaceous gland anomaly hereditary epidermal appendage anomaly UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021035 MONDO:0008756 True alopecia-intellectual disability syndrome 1 alopecia - intellectual disability syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0021013 MONDO:0018053 True trichothiodystrophy 4, nonphotosensitive trichothiodystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0021018 MONDO:0015151 True autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) muscular dystrophy, limb-girdle, autosomal dominant UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0021019 MONDO:0043209 True X-linked recessive ocular albinism albinism UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021023 MONDO:0019154 True complete androgen insensitivity syndrome androgen insensitivity syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0021032 MONDO:0021033 True herpes zoster with dermatitis of eyelid herpes zoster dermatitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021033 MONDO:0021201 True herpes zoster dermatitis skin infection UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021035 MONDO:0008756 True alopecia-intellectual disability syndrome 1 alopecia - intellectual disability syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0021036 MONDO:0005093 True keratosis pilaris skin disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021038 MONDO:0005564 True Ewing sarcoma/peripheral primitive neuroectodermal tumor embryonal neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021039 MONDO:0021038 True extraskeletal Ewing sarcoma/peripheral primitive neuroectodermal tumor Ewing sarcoma/peripheral primitive neuroectodermal tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021040 MONDO:0002356 True pancreatic neoplasm pancreas disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -16139,7 +8632,7 @@ MONDO:0021046 MONDO:0021100 True breast fibroepithelial neoplasm breast neoplasm MONDO:0021047 MONDO:0005078 True breast phyllodes tumor phyllodes tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021047 MONDO:0021046 True breast phyllodes tumor breast fibroepithelial neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021048 MONDO:0003079 True benign mastocytoma mastocytoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021048 MONDO:0005165 True benign mastocytoma benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0021048 MONDO:0005165 True benign mastocytoma benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0021049 MONDO:0002187 True vulvar neoplasm vulvar disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021049 MONDO:0021148 True vulvar neoplasm female reproductive system neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021050 MONDO:0001433 True vaginal neoplasm vaginal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -16147,12 +8640,14 @@ MONDO:0021050 MONDO:0021148 True vaginal neoplasm female reproductive system neo MONDO:0021052 MONDO:0000448 True parasympathetic paraganglioma paraganglioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021053 MONDO:0006239 True carotid body paraganglioma head and neck paraganglioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021053 MONDO:0021052 True carotid body paraganglioma parasympathetic paraganglioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021054 MONDO:0002129 True bone sarcoma bone cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0021054 MONDO:0002129 True bone sarcoma bone cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0021054 MONDO:0005089 True bone sarcoma sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0021056 MONDO:0021055 True familial adenomatous polyposis 1 classic familial adenomatous polyposis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0021061 MONDO:0000426 True neurofibromatosis autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0021056 MONDO:0021055 True familial adenomatous polyposis 1 classic familial adenomatous polyposis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0021060 MONDO:0003847 True RASopathy hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0021061 MONDO:0015356 True neurofibromatosis hereditary neoplastic syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021061 MONDO:0042983 True neurofibromatosis neurocutaneous syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021063 MONDO:0005401 True malignant colon neoplasm colonic neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021063 MONDO:0005575 True malignant colon neoplasm colorectal cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0021063 MONDO:0005575 True malignant colon neoplasm colorectal cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0021064 MONDO:0006239 True jugulotympanic paraganglioma head and neck paraganglioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021064 MONDO:0021052 True jugulotympanic paraganglioma parasympathetic paraganglioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021065 MONDO:0002037 True pleural neoplasm pleural disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -16163,12 +8658,13 @@ MONDO:0021067 MONDO:0021386 True mediastinal germ cell tumor neoplasm of mediast MONDO:0021068 MONDO:0005558 True ovarian neoplasm ovarian disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021068 MONDO:0021148 True ovarian neoplasm female reproductive system neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021069 MONDO:0002082 True malignant endocrine neoplasm endocrine gland neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021069 MONDO:0004992 True malignant endocrine neoplasm cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0021069 MONDO:0004992 True malignant endocrine neoplasm cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0021070 MONDO:0004667 True sublingual gland carcinoma sublingual gland cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021070 MONDO:0006284 True sublingual gland carcinoma major salivary gland carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021071 MONDO:0004382 True laryngeal neoplasm laryngeal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021072 MONDO:0000448 True sympathetic paraganglioma paraganglioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021072 MONDO:0005626 True sympathetic paraganglioma epithelial neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021073 MONDO:0045054 True paraneoplastic syndrome cancer-related condition UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021075 MONDO:0005079 True neoplastic polyp polyp UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021076 MONDO:0021040 True pancreatic exocrine neoplasm pancreatic neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021077 MONDO:0005070 True cystic neoplasm neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -16177,31 +8673,31 @@ MONDO:0021078 MONDO:0024276 True glandular papilloma glandular cell neoplasm UNS MONDO:0021079 MONDO:0005070 True childhood neoplasm neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021080 MONDO:0005385 True blood vessel neoplasm vascular disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021080 MONDO:0024296 True blood vessel neoplasm vascular neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021081 MONDO:0019956 True anti-NMDA receptor encephalitis encephalitis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021083 MONDO:0007614 True congenital fibrosis of extraocular muscles type 1 congenital fibrosis of extraocular muscles UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0021081 MONDO:0019956 True anti-NMDA receptor encephalitis encephalitis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021083 MONDO:0007614 True congenital fibrosis of extraocular muscles type 1 congenital fibrosis of extraocular muscles UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS MONDO:0021085 MONDO:0004298 True gastric neoplasm stomach disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021085 MONDO:0021223 True gastric neoplasm digestive system neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021086 MONDO:0002021 True gingival neoplasm gingival disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021088 MONDO:0016642 True papillary meningioma meningioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021089 MONDO:0001406 True peripheral nervous system cancer peripheral nervous system neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021089 MONDO:0005872 True peripheral nervous system cancer nervous system cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021090 MONDO:0003570 True lipid-rich breast carcinoma lipid-rich carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0021090 MONDO:0003570 True lipid-rich breast carcinoma lipid-rich carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0021091 MONDO:0002369 True papillary cystadenoma cystadenoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021091 MONDO:0006349 True papillary cystadenoma papillary cystic neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021092 MONDO:0002156 True fallopian tube neoplasm fallopian tube disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021092 MONDO:0021148 True fallopian tube neoplasm female reproductive system neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021093 MONDO:0009032 True cranioectodermal dysplasia 1 cranioectodermal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0021093 MONDO:0009032 True cranioectodermal dysplasia 1 cranioectodermal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0021094 MONDO:0005046 True immunodeficiency disease immune system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021096 MONDO:0005626 True papillary epithelial neoplasm epithelial neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021097 MONDO:0000620 True intraductal breast papilloma breast benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0021097 MONDO:0000620 True intraductal breast papilloma breast benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0021097 MONDO:0002060 True intraductal breast papilloma intraductal papilloma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0021097 MONDO:0002061 True intraductal breast papilloma intraductal papillary breast neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0021097 MONDO:0002061 True intraductal breast papilloma intraductal papillary breast neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0021098 MONDO:0021096 True papillomatosis papillary epithelial neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021099 MONDO:0021098 True intraductal papillomatosis papillomatosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021100 MONDO:0002657 True breast neoplasm breast disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021101 MONDO:0015066 True appendix L-cell glucagon-like peptide-producing neuroendocrine tumor neuroendocrine tumor of the appendix, well differentiated, low or intermediate grade UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021102 MONDO:0005078 True prostate phyllodes tumor phyllodes tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021102 MONDO:0021259 True prostate phyllodes tumor prostate neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021107 MONDO:0003406 True narcolepsy sleep-wake disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0021109 MONDO:0003064 True inverted urothelial papilloma inverted transitional cell papilloma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021109 MONDO:0004041 True inverted urothelial papilloma urothelial papilloma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021110 MONDO:0002381 True sweat gland adenoma sweat gland neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -16210,37 +8706,39 @@ MONDO:0021110 MONDO:0021634 True sweat gland adenoma epithelial skin neoplasm UN MONDO:0021111 MONDO:0001926 True ureter neoplasm ureteral disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021111 MONDO:0021066 True ureter neoplasm urinary system neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021112 MONDO:0003319 True scrotum cancer scrotum neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021113 MONDO:0005275 True respiratory failure lung disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0021113 MONDO:0005275 True respiratory failure lung disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0021114 MONDO:0021049 True Bartholin gland neoplasm vulvar neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021117 MONDO:0005275 True lung neoplasm lung disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021117 MONDO:0020641 True lung neoplasm respiratory tract neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021117 MONDO:0021350 True lung neoplasm neoplasm of thorax UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021118 MONDO:0005020 True intestinal neoplasm intestinal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0021118 MONDO:0005020 True intestinal neoplasm intestinal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0021118 MONDO:0021223 True intestinal neoplasm digestive system neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021119 MONDO:0002082 True non-functioning endocrine neoplasm endocrine gland neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021120 MONDO:0002082 True functioning endocrine neoplasm endocrine gland neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021121 MONDO:0021080 True hemangioendothelioma blood vessel neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021123 MONDO:0019060 True Ewing sarcoma/peripheral primitive neuroectodermal tumor of bone bone neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021123 MONDO:0021038 True Ewing sarcoma/peripheral primitive neuroectodermal tumor of bone Ewing sarcoma/peripheral primitive neuroectodermal tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021129 MONDO:0005328 True microphthalmia eye disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0021129 MONDO:0005328 True microphthalmia eye disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0021132 MONDO:0001741 True tertiary hyperparathyroidism hyperparathyroidism UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021133 MONDO:0020599 True acquired factor XIII deficiency acquired coagulation factor deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021134 MONDO:0002247 True acquired factor X deficiency factor X deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021134 MONDO:0020599 True acquired factor X deficiency acquired coagulation factor deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021138 MONDO:0005374 True bone marrow cancer bone marrow neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021143 MONDO:0005070 True melanocytic neoplasm neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021144 MONDO:0002229 True ovarian clear cell tumor ovarian epithelial tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021148 MONDO:0002263 True female reproductive system neoplasm female reproductive system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021148 MONDO:0006054 True female reproductive system neoplasm reproductive system neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021162 MONDO:0006504 True carotenemia acquired metabolic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0021163 MONDO:0005240 True kidney neoplasm kidney disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021163 MONDO:0021066 True kidney neoplasm urinary system neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021165 MONDO:0004970 True Paget disease adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021167 MONDO:0005336 True myositis disease myopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0021168 MONDO:0005106 True hibernoma lipoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021169 MONDO:0006500 True epithelioid hemangioma hemangioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0021172 MONDO:0010979 True Timothy syndrome, atypical type Timothy syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021176 MONDO:0016264 True autoimmune hepatitis type 2 autoimmune hepatitis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021169 MONDO:0006500 True epithelioid hemangioma hemangioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0021175 MONDO:0007019 True herpetic vulvovaginitis vulvovaginitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021187 MONDO:0005066 True hyperlipidemia metabolic disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021192 MONDO:0005586 True odontogenic neoplasm head and neck neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021192 MONDO:0006999 True odontogenic neoplasm tooth disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021193 MONDO:0021248 True neuroepithelial neoplasm nervous system neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021205 MONDO:0024623 True disorder of ear otorhinolaryngologic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021209 MONDO:0005267 True heart neoplasm heart disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021209 MONDO:0021350 True heart neoplasm neoplasm of thorax UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021209 MONDO:0024757 True heart neoplasm cardiovascular neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -16283,7 +8781,6 @@ MONDO:0021241 MONDO:0005586 True buccal mucosa neoplasm head and neck neoplasm U MONDO:0021242 MONDO:0021368 True sublingual gland neoplasm neoplasm of major salivary gland UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021243 MONDO:0021368 True parotid gland neoplasm neoplasm of major salivary gland UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021244 MONDO:0021368 True submandibular gland neoplasm neoplasm of major salivary gland UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021245 MONDO:0005586 True oral cavity neoplasm head and neck neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021245 MONDO:0006858 True oral cavity neoplasm mouth disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021248 MONDO:0005070 True nervous system neoplasm neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021248 MONDO:0005071 True nervous system neoplasm nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -16297,7 +8794,7 @@ MONDO:0021253 MONDO:0005281 True gallbladder neoplasm gallbladder disorder UNSUP MONDO:0021254 MONDO:0021353 True corpus uteri neoplasm tumor of uterus UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021258 MONDO:0001898 True choroid neoplasm optic choroid disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021258 MONDO:0021225 True choroid neoplasm uvea neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021259 MONDO:0003105 True prostate neoplasm prostate disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0021259 MONDO:0003105 True prostate neoplasm prostate disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0021259 MONDO:0006054 True prostate neoplasm reproductive system neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021271 MONDO:0000502 True villous adenoma of colon villous adenoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021271 MONDO:0000527 True villous adenoma of colon colon adenoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -16405,6 +8902,7 @@ MONDO:0021372 MONDO:0021374 True neoplasm of temporal lobe neoplasm of cerebral MONDO:0021373 MONDO:0021374 True neoplasm of parietal lobe neoplasm of cerebral hemisphere UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021374 MONDO:0021211 True neoplasm of cerebral hemisphere brain neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021375 MONDO:0004251 True tumor of duodenum small intestine neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021377 MONDO:0006572 True hypertrophic lichen planus lichen planus UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021378 MONDO:0021209 True neoplasm of endocardium heart neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021379 MONDO:0021209 True neoplasm of epicardium heart neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021380 MONDO:0021209 True neoplasm of myocardium heart neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -16418,10 +8916,27 @@ MONDO:0021388 MONDO:0021350 True neoplasm of chest wall neoplasm of thorax UNSUP MONDO:0021389 MONDO:0021052 True neoplasm of aortic body parasympathetic paraganglioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021390 MONDO:0005079 True polyp of ureter polyp UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021390 MONDO:0021111 True polyp of ureter ureter neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021394 MONDO:0005079 True polyp of vagina polyp SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021396 MONDO:0005079 True polyp of vulva polyp SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021392 MONDO:0005079 True polyp of large intestine polyp UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021394 MONDO:0001433 True polyp of vagina vaginal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021394 MONDO:0005079 True polyp of vagina polyp SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021396 MONDO:0002263 True polyp of vulva female reproductive system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021396 MONDO:0005079 True polyp of vulva polyp SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021398 MONDO:0021392 True polyp of rectum polyp of large intestine UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021400 MONDO:0021392 True polyp of colon polyp of large intestine UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021402 MONDO:0005079 True polyp of external auditory canal polyp UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021402 MONDO:0021235 True polyp of external auditory canal external ear neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021404 MONDO:0001735 True polyp of sphenoidal sinus paranasal sinus disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021404 MONDO:0005079 True polyp of sphenoidal sinus polyp UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021408 MONDO:0001735 True polyp of frontal sinus paranasal sinus disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021408 MONDO:0005079 True polyp of frontal sinus polyp UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021412 MONDO:0001735 True polyp of maxillary sinus paranasal sinus disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021412 MONDO:0005079 True polyp of maxillary sinus polyp UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021416 MONDO:0005079 True polyp of gallbladder polyp UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021416 MONDO:0005281 True polyp of gallbladder gallbladder disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021418 MONDO:0001735 True polyp of ethmoidal sinus paranasal sinus disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021418 MONDO:0005079 True polyp of ethmoidal sinus polyp UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021420 MONDO:0004382 True polyp of vocal cord laryngeal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021420 MONDO:0005079 True polyp of vocal cord polyp UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021424 MONDO:0005094 True hemangiopericytoma of skin hemangiopericytoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021427 MONDO:0021333 True squamous cell carcinoma of lip carcinoma of lip UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021429 MONDO:0004958 True squamous cell carcinoma of floor of mouth oral cavity squamous cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -16430,13 +8945,11 @@ MONDO:0021431 MONDO:0004645 True squamous cell carcinoma of buccal mucosa cheek MONDO:0021431 MONDO:0004958 True squamous cell carcinoma of buccal mucosa oral cavity squamous cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021437 MONDO:0005106 True lipoma of stomach lipoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021437 MONDO:0021449 True lipoma of stomach benign neoplasm of stomach UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021439 MONDO:0000627 True benign neoplasm of pituitary gland benign endocrine neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0021439 MONDO:0017611 True benign neoplasm of pituitary gland pituitary tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021439 MONDO:0021451 True benign neoplasm of pituitary gland benign neoplasm of brain UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021440 MONDO:0002531 True benign neoplasm of skin skin neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021441 MONDO:0021076 True benign neoplasm of exocrine pancreas pancreatic exocrine neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021441 MONDO:0021470 True benign neoplasm of exocrine pancreas benign neoplasm of pancreas UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021443 MONDO:0000630 True benign neoplasm of lymph node immune system organ benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0021443 MONDO:0024339 True benign neoplasm of lymph node lymph node neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021444 MONDO:0003062 True benign neoplasm of large intestine intestinal benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021445 MONDO:0005165 True benign neoplasm of oral cavity benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -16470,7 +8983,6 @@ MONDO:0021461 MONDO:0021358 True benign neoplasm of hypopharynx neoplasm of hypo MONDO:0021461 MONDO:0021523 True benign neoplasm of hypopharynx benign neoplasm of pharynx UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021462 MONDO:0002165 True benign neoplasm of rectum rectal neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021462 MONDO:0021444 True benign neoplasm of rectum benign neoplasm of large intestine UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021463 MONDO:0000627 True benign neoplasm of parathyroid gland benign endocrine neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0021463 MONDO:0021360 True benign neoplasm of parathyroid gland tumor of parathyroid gland UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021464 MONDO:0002278 True benign neoplasm of cecum benign colon neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021464 MONDO:0005694 True benign neoplasm of cecum cecal neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -16531,7 +9043,7 @@ MONDO:0021499 MONDO:0021451 True benign neoplasm of cerebellum benign neoplasm o MONDO:0021500 MONDO:0036696 True benign neoplasm of spleen spleen neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021501 MONDO:0003062 True benign neoplasm of small intestine intestinal benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021501 MONDO:0004251 True benign neoplasm of small intestine small intestine neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021503 MONDO:0000385 True benign neoplasm of gallbladder benign digestive system neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0021503 MONDO:0000385 True benign neoplasm of gallbladder benign digestive system neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0021503 MONDO:0021253 True benign neoplasm of gallbladder gallbladder neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021505 MONDO:0021378 True benign neoplasm of endocardium neoplasm of endocardium UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021505 MONDO:0021450 True benign neoplasm of endocardium benign neoplasm of heart UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -16586,15 +9098,16 @@ MONDO:0021535 MONDO:0019954 True pancreatic neuroendocrine tumor G1 pancreatic n MONDO:0021537 MONDO:0015459 True undifferentiated carcinoma of nasopharynx nasopharyngeal carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021538 MONDO:0004958 True verrucous carcinoma of oral cavity oral cavity squamous cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021538 MONDO:0006006 True verrucous carcinoma of oral cavity verrucous carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021539 MONDO:0006499 True hamartoma of skin appendage hamartoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021540 MONDO:0006499 True hamartoma of lung hamartoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021540 MONDO:0021117 True hamartoma of lung lung neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021542 MONDO:0006500 True hemangioma of choroid hemangioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021542 MONDO:0021487 True hemangioma of choroid benign neoplasm of choroid UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021543 MONDO:0006500 True hemangioma of gingiva hemangioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021543 MONDO:0021491 True hemangioma of gingiva benign neoplasm of gum UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021545 MONDO:0002616 True myomatous neoplasm mesenchymal cell neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021547 MONDO:0019507 True amelogenesis imperfecta type 3B amelogenesis imperfecta UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0021548 MONDO:0011060 True total early-onset cataract early-onset non-syndromic cataract UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021553 MONDO:0002565 True transverse myelitis myelitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0021547 MONDO:0019507 True amelogenesis imperfecta type 3B amelogenesis imperfecta UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0021559 MONDO:0003664 True non-autoimmune hemolytic anemia hemolytic anemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021571 MONDO:0007462 True multiple sclerosis, susceptibility to 1 multiple sclerosis, susceptibility to UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0021573 MONDO:0014769 True oocyte maturation defect 2 inherited oocyte maturation defect UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0021574 MONDO:0014769 True oocyte maturation defect 3 inherited oocyte maturation defect UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING @@ -16617,7 +9130,7 @@ MONDO:0021632 MONDO:0021211 True primary brain neoplasm brain neoplasm UNSUPPORT MONDO:0021633 MONDO:0021631 True cerebral astrocytoma brain astrocytoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021634 MONDO:0002531 True epithelial skin neoplasm skin neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021634 MONDO:0005626 True epithelial skin neoplasm epithelial neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021636 MONDO:0021042 True astrocytic tumor glioma UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021636 MONDO:0021042 True astrocytic tumor glioma UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021637 MONDO:0021042 True low grade glioma glioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021638 MONDO:0021636 True low grade astrocytic tumor astrocytic tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021638 MONDO:0021637 True low grade astrocytic tumor low grade glioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -16629,65 +9142,90 @@ MONDO:0021650 MONDO:0019496 True uterine corpus neuroendocrine neoplasm neuroend MONDO:0021650 MONDO:0021254 True uterine corpus neuroendocrine neoplasm corpus uteri neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021652 MONDO:0004970 True diffuse type adenocarcinoma adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021656 MONDO:0005040 True nongerminomatous germ cell tumor germ cell tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021657 MONDO:0006055 True ovarian sex cord-stromal tumor sex cord-stromal tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0021657 MONDO:0006055 True ovarian sex cord-stromal tumor sex cord-stromal tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0021657 MONDO:0021068 True ovarian sex cord-stromal tumor ovarian neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021658 MONDO:0005385 True vascular ectasia vascular disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021659 MONDO:0004993 True combined carcinoid and adenocarcinoma carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021661 MONDO:0005311 True coronary atherosclerosis atherosclerosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021662 MONDO:0002887 True bile duct neoplasm bile duct disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021663 MONDO:0005096 True sarcomatoid squamous cell carcinoma squamous cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021663 MONDO:0006406 True sarcomatoid squamous cell carcinoma sarcomatoid carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021681 MONDO:0005550 True sexually transmitted disease infectious disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021666 MONDO:0005550 True ear infection infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021666 MONDO:0021166 True ear infection inflammatory disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021666 MONDO:0021205 True ear infection disorder of ear UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021681 MONDO:0005550 True sexually transmitted disease infectious disease SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021718 MONDO:0001824 True polyneuritis polyneuropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021718 MONDO:0002122 True polyneuritis neuritis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021736 MONDO:0024278 True proctosigmoiditis proctocolitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021750 MONDO:0005240 True pyonephrosis kidney disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021765 MONDO:0005071 True radiculitis nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021777 MONDO:0006955 True acute rheumatic heart disease rheumatic heart disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021783 MONDO:0002258 True streptococcal sore throat pharyngitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021812 MONDO:0021489 True adnexal spiradenoma/cylindroma of a sweat gland benign neoplasm of sweat gland UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021879 MONDO:0020325 True small cell variant anaplastic large cell lymphoma anaplastic large cell lymphoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021895 MONDO:0002254 True temporomandibular joint dysfunction syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021902 MONDO:0005267 True aortopulmonary window heart disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021915 MONDO:0002254 True arakawa syndrome 2 syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021953 MONDO:0006052 True tuberculous fibrosis of lung pulmonary tuberculosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021960 MONDO:0001926 True ureteritis ureteral disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021977 MONDO:0006499 True basaloid follicular hamartoma hamartoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0022057 MONDO:0021192 True calcifying epithelial odontogenic tumor odontogenic neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0022103 MONDO:0005280 True chronic prostatitis prostatitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0022171 MONDO:0024467 True chromhidrosis apocrine sweat gland disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0022173 MONDO:0016932 True chromosome 11q trisomy partial duplication of chromosome 11 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0022174 MONDO:0017277 True chromosome 12p deletion partial deletion of chromosome 12 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0022410 MONDO:0005308 True retinal ciliopathy ciliopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0022519 MONDO:0004496 True autoimmune myocarditis myocarditis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0022529 MONDO:0005784 True BK-virus nephropathy hantavirus hemorrhagic fever with renal syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0022220 MONDO:0002254 True Parinaud syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0022293 MONDO:0002036 True vascular disorder of penis penile disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0022293 MONDO:0005385 True vascular disorder of penis vascular disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0022435 MONDO:0002254 True Mauriac syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0022538 MONDO:0004844 True leukoplakia of gingiva oral mucosa leukoplakia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0022578 MONDO:0004986 True childhood bladder carcinoma urinary bladder carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0022642 MONDO:0005369 True childhood carcinoid tumor carcinoid tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0022642 MONDO:0021079 True childhood carcinoid tumor childhood neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0022697 MONDO:0006497 True athetoid cerebral palsy cerebral palsy SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0022742 MONDO:0004979 True occupational asthma asthma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0022754 MONDO:0016879 True chromosome 17p deletion partial deletion of chromosome 17 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0022756 MONDO:0016866 True chromosome 1q deletion partial deletion of chromosome 1 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0022762 MONDO:0016869 True chromosome 4 short arm deletion partial deletion of chromosome 4 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0022697 MONDO:0006497 True athetoid cerebral palsy cerebral palsy SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0022735 MONDO:0005262 True choroid plexus cyst central nervous system cyst UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0022749 MONDO:0005093 True non-neoplastic nevus skin disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0022772 MONDO:0005055 True classic Kaposi sarcoma Kaposi's sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0022859 MONDO:0005267 True cor biloculare heart disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0022963 MONDO:0016729 True desmoplastic infantile astrocytoma mixed neuronal-glial tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0022965 MONDO:0016729 True desmoplastic infantile ganglioglioma mixed neuronal-glial tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0022993 MONDO:0004782 True dipsogenic diabetes insipidus diabetes insipidus UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0023069 MONDO:0002467 True enlarged vestibular aqueduct syndrome inner ear disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0022993 MONDO:0004782 True dipsogenic diabetes insipidus diabetes insipidus UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0023023 MONDO:0004926 True neonatal dacryocystitis dacryocystitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0023122 MONDO:0005159 True familial prostate carcinoma prostate carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0023188 MONDO:0018381 True Freiberg disease osteochondrosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0023206 MONDO:0019954 True functional pancreatic neuroendocrine tumor pancreatic neuroendocrine tumor UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0023161 MONDO:0004496 True viral myocarditis myocarditis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0023164 MONDO:0005904 True viral pericarditis pericarditis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0023206 MONDO:0019954 True functional pancreatic neuroendocrine tumor pancreatic neuroendocrine tumor UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0023206 MONDO:0021120 True functional pancreatic neuroendocrine tumor functioning endocrine neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0023227 MONDO:0004782 True gestational diabetes insipidus diabetes insipidus UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0023232 MONDO:0002815 True giant cell myocarditis acute myocarditis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0023273 MONDO:0011934 True pigmented dermatofibrosarcoma protuberans dermatofibrosarcoma protuberans UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0023283 MONDO:0006036 True ovarian granulosa cell tumor granulosa cell tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0023283 MONDO:0021657 True ovarian granulosa cell tumor ovarian sex cord-stromal tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0023297 MONDO:0005083 True guttate psoriasis psoriasis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0023415 MONDO:0002026 True congenital candidiasis candidiasis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0023483 MONDO:0021167 True infectious myositis myositis disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0023557 MONDO:0002234 True infective vaginitis vaginitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0023557 MONDO:0005550 True infective vaginitis infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0023595 MONDO:0016107 True congenital myotonic dystrophy myotonic dystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0023597 MONDO:0018955 True laryngeal papillomatosis recurrent respiratory papillomatosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0023599 MONDO:0005516 True mesomelic dysplasia osteochondrodysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0023601 MONDO:0018479 True non-classic congenital adrenal hyperplasia congenital adrenal hyperplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0023603 MONDO:0003900 True hereditary disorder of connective tissue connective tissue disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0023619 MONDO:0005012 True lentigo maligna melanoma cutaneous melanoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0023628 MONDO:0002519 True levator syndrome anus disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0023644 MONDO:0002038 True lip and oral cavity carcinoma head and neck carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0023655 MONDO:0021094 True immunodeficiency 14b, autosomal recessive immunodeficiency disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0023657 MONDO:0100172 True intellectual developmental disorder, autosomal dominant 65 intellectual disability, autosomal dominant UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0023659 MONDO:0100062 True developmental and epileptic encephalopathy 96 developmental and epileptic encephalopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0023659 MONDO:0100062 True developmental and epileptic encephalopathy 96 developmental and epileptic encephalopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS MONDO:0023660 MONDO:0019623 True angioedema, hereditary, 6 hereditary angioedema UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0023662 MONDO:0019313 True lymphatic malformation 10 lymphatic malformation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0023664 MONDO:0004983 True spermatogenic failure 54 spermatogenic failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0023670 MONDO:0015229 True Bardet-Biedl syndrome 20 Bardet-Biedl syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0023671 MONDO:0025193 True oculopharyngodistal myopathy 3 oculopharyngodistal myopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0023664 MONDO:0004983 True spermatogenic failure 54 spermatogenic failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0023670 MONDO:0015229 True Bardet-Biedl syndrome 20 Bardet-Biedl syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0023671 MONDO:0025193 True oculopharyngodistal myopathy 3 oculopharyngodistal myopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS MONDO:0023682 MONDO:0006239 True tympanic paraganglioma head and neck paraganglioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0023726 MONDO:0005744 True mediastinal yolk sac tumor yolk sac tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0023726 MONDO:0006298 True mediastinal yolk sac tumor mediastinal malignant germ cell tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0024182 MONDO:0006676 True dry beriberi beriberi UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0024183 MONDO:0006676 True wet beriberi beriberi UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0024227 MONDO:0006580 True miliaria pustulosa miliaria UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0024228 MONDO:0006580 True miliaria profunda miliaria UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0024229 MONDO:0006580 True miliaria crystallina miliaria UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0023865 MONDO:0003085 True corneal infection keratitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0024235 MONDO:0037254 True Brenner tumor transitional cell neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0024240 MONDO:0005506 True eccrine carcinoma eccrine sweat gland cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0024237 MONDO:0005559 True inherited neurodegenerative disorder neurodegenerative disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0024239 MONDO:0004995 True congenital anomaly of cardiovascular system cardiovascular disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0024240 MONDO:0005506 True eccrine carcinoma eccrine sweat gland cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0024240 MONDO:0005524 True eccrine carcinoma sweat gland carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0024245 MONDO:0024240 True ductal eccrine adenocarcinoma eccrine carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0024246 MONDO:0021110 True syringofibroadenoma sweat gland adenoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -16695,34 +9233,42 @@ MONDO:0024246 MONDO:0024247 True syringofibroadenoma benign eccrine neoplasm UNS MONDO:0024246 MONDO:0024666 True syringofibroadenoma benign epithelial skin neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0024247 MONDO:0002090 True benign eccrine neoplasm eccrine sweat gland neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0024247 MONDO:0021489 True benign eccrine neoplasm benign neoplasm of sweat gland UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0024252 MONDO:0015653 True global developmental delay-neuro-ophthalmological abnormalities-seizures-intellectual disability syndrome monogenic epilepsy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0024257 MONDO:0020128 True hereditary motor neuron disease motor neuron disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0024264 MONDO:0000045 True hypothyroidism, congenital, nongoitrous, 2 hypothyroidism, congenital, nongoitrous UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0024265 MONDO:0007473 True Duane syndrome type 1 Duane retraction syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0024266 MONDO:0011827 True patent ductus arteriosus 3 patent ductus arteriosus UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0024276 MONDO:0005626 True glandular cell neoplasm epithelial neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0024279 MONDO:0000918 True chronic endometritis endometritis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0024280 MONDO:0005578 True polyarticular arthritis arthritic joint disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0024281 MONDO:0024280 True juvenile chronic polyarthritis polyarticular arthritis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0024282 MONDO:0003756 True mucinous ovarian cancer ovarian mucinous neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0024282 MONDO:0018364 True mucinous ovarian cancer malignant epithelial tumor of ovary UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0024286 MONDO:0000629 True benign blood vessel neoplasm cardiovascular organ benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0024286 MONDO:0021080 True benign blood vessel neoplasm blood vessel neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0024290 MONDO:0002025 True enuresis psychiatric disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0024292 MONDO:0004335 True gastrointestinal polyp digestive system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0024292 MONDO:0005079 True gastrointestinal polyp polyp UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0024296 MONDO:0024757 True vascular neoplasm cardiovascular neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0024301 MONDO:0006504 True acquired mineral metabolism disease acquired metabolic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0024300 MONDO:0005520 True hypophosphatemic rickets rickets UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0024303 MONDO:0002875 True external hirudiniasis parasitic ectoparasitic infectious disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0024305 MONDO:0006504 True acquired hyperprolactinemia acquired metabolic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0024306 MONDO:0006504 True acquired lactic acidosis acquired metabolic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0024309 MONDO:0019941 True neuropathy, hereditary sensory and autonomic, type 2A hereditary sensory and autonomic neuropathy type 2 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0024312 MONDO:0024311 True cancer of short bone of upper limb cancer affecting bone of limb skeleton SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0024313 MONDO:0005113 True staphylococcal infection bacterial infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0024315 MONDO:0016047 True parasitic endophthalmitis endophthalmitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0024316 MONDO:0003117 True physiological malfunction arising from mental factor somatoform disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0024320 MONDO:0002467 True inner ear neoplasm inner ear disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0024320 MONDO:0021233 True inner ear neoplasm ear neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0024323 MONDO:0018327 True glomangiomyoma glomus tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0024326 MONDO:0003308 True pleural adenomatoid tumor pleural mesothelioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0024326 MONDO:0004230 True pleural adenomatoid tumor adenomatoid tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0024326 MONDO:0021457 True pleural adenomatoid tumor benign neoplasm of pleura UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0024331 MONDO:0005575 True colorectal carcinoma colorectal cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0024327 MONDO:0001106 True chronic renal failure syndrome kidney failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0024327 MONDO:0005300 True chronic renal failure syndrome chronic kidney disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0024330 MONDO:0005441 True infectious otitis media otitis media UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0024330 MONDO:0021666 True infectious otitis media ear infection UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0024331 MONDO:0005575 True colorectal carcinoma colorectal cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0024331 MONDO:0006181 True colorectal carcinoma digestive system carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0024332 MONDO:0011786 True perennial allergic rhinitis allergic rhinitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0024336 MONDO:0002198 True vulvar adenocarcinoma vulvar glandular neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0024336 MONDO:0004970 True vulvar adenocarcinoma adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0024336 MONDO:0005215 True vulvar adenocarcinoma vulvar carcinoma UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0024336 MONDO:0004970 True vulvar adenocarcinoma adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0024336 MONDO:0005215 True vulvar adenocarcinoma vulvar carcinoma UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0024337 MONDO:0021066 True urothelial neoplasm urinary system neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0024337 MONDO:0037254 True urothelial neoplasm transitional cell neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0024338 MONDO:0024276 True mucinous neoplasm glandular cell neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -16730,6 +9276,8 @@ MONDO:0024339 MONDO:0002334 True lymph node neoplasm hematopoietic and lymphoid MONDO:0024339 MONDO:0004928 True lymph node neoplasm lymph node disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0024340 MONDO:0005072 True retinal neuroblastoma neuroblastoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0024341 MONDO:0021231 True retinal cell neoplasm retina neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0024352 MONDO:0005108 True viral respiratory tract infection viral infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0024354 MONDO:0005132 True cytomegalovirus pneumonia cytomegalovirus infection UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0024361 MONDO:0003406 True circadian rhythm sleep disorder sleep-wake disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0024377 MONDO:0024361 True circadian rhythm sleep disorder, delayed sleep phase type circadian rhythm sleep disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0024378 MONDO:0024361 True circadian rhythm sleep disorder, advanced sleep phase type circadian rhythm sleep disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -16739,11 +9287,10 @@ MONDO:0024382 MONDO:0024361 True circadian rhythm sleep disorder, shift work typ MONDO:0024386 MONDO:0003050 True large cell lung carcinoma, clear cell variant lung large cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0024387 MONDO:0000646 True benign ovarian sex cord-stromal tumor ovarian benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0024387 MONDO:0021657 True benign ovarian sex cord-stromal tumor ovarian sex cord-stromal tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0024387 MONDO:0024988 True benign ovarian sex cord-stromal tumor sex cord-stromal benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0024457 MONDO:0017998 True neurodegeneration with brain iron accumulation 2A PLA2G6-associated neurodegeneration UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0024457 MONDO:0020127 True neurodegeneration with brain iron accumulation 2A hereditary peripheral neuropathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0024422 MONDO:0021945 True auditory perceptual disorders hearing disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0024429 MONDO:0002254 True Alice in Wonderland syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0024461 MONDO:0024286 True angiomatosis benign blood vessel neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0024463 MONDO:0009299 True ovarian dysgenesis 1 46 XX gonadal dysgenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0024463 MONDO:0009299 True ovarian dysgenesis 1 46 XX gonadal dysgenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS MONDO:0024464 MONDO:0013099 True pituitary hormone deficiency, combined, 1 combined pituitary hormone deficiencies, genetic form UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0024465 MONDO:0012580 True surfactant metabolism dysfunction, pulmonary, 2 hereditary pulmonary alveolar proteinosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0024466 MONDO:0011090 True facial paresis, hereditary congenital, 1 isolated hereditary congenital facial paralysis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING @@ -16755,7 +9302,14 @@ MONDO:0024474 MONDO:0021074 True intraepithelial neoplasia precancerous conditio MONDO:0024475 MONDO:0002532 True squamous cell intraepithelial neoplasia squamous cell neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0024475 MONDO:0024474 True squamous cell intraepithelial neoplasia intraepithelial neoplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0024477 MONDO:0002514 True liver and intrahepatic bile duct neoplasm hepatobiliary neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0024477 MONDO:0005154 True liver and intrahepatic bile duct neoplasm liver disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0024477 MONDO:0005154 True liver and intrahepatic bile duct neoplasm liver disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0024478 MONDO:0006499 True mesenchymal hamartoma hamartoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0024482 MONDO:0021539 True eccrine sweat gland hamartoma hamartoma of skin appendage UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0024483 MONDO:0005043 True urothelial hyperplasia hyperplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0024485 MONDO:0024483 True papillary urothelial hyperplasia urothelial hyperplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0024487 MONDO:0005550 True nail infection infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0024496 MONDO:0024489 True tumor grade 2 or 3, general grading system general tumor grading characteristic UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0024497 MONDO:0024489 True tumor grade 3 or 4, general grading system general tumor grading characteristic UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0024498 MONDO:0100242 True glioma susceptibility 1 glioma susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0024499 MONDO:0019060 True vascular bone neoplasm bone neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0024499 MONDO:0024296 True vascular bone neoplasm vascular neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -16763,17 +9317,18 @@ MONDO:0024501 MONDO:0001236 True appendix neuroendocrine neoplasm appendiceal ne MONDO:0024502 MONDO:0021253 True gallbladder neuroendocrine neoplasm gallbladder neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0024502 MONDO:0024503 True gallbladder neuroendocrine neoplasm digestive system neuroendocrine neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0024503 MONDO:0004335 True digestive system neuroendocrine neoplasm digestive system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0024503 MONDO:0019496 True digestive system neuroendocrine neoplasm neuroendocrine neoplasm UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0024503 MONDO:0019496 True digestive system neuroendocrine neoplasm neuroendocrine neoplasm UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0024503 MONDO:0021223 True digestive system neuroendocrine neoplasm digestive system neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0024504 MONDO:0021535 True enterochromaffin cell serotonin-producing pancreatic neuroendocrine tumor pancreatic neuroendocrine tumor G1 UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0024506 MONDO:0007034 True Adams-Oliver syndrome 1 Adams-Oliver syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0024507 MONDO:0007119 True aniridia 1 isolated aniridia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0024508 MONDO:0013229 True epilepsy, hot water, 1 hot water reflex epilepsy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0024508 MONDO:0013229 True epilepsy, hot water, 1 hot water reflex epilepsy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS MONDO:0024517 MONDO:0008075 True schwannomatosis 1 schwannomatosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0024519 MONDO:0018470 True renal hypodysplasia/aplasia 1 renal agenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0024520 MONDO:0018470 True renal hypodysplasia/aplasia 3 renal agenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0024521 MONDO:0007031 True aortic aneurysm, familial abdominal, 1 familial abdominal aortic aneurysm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0024522 MONDO:0007101 True amyloidosis, primary localized cutaneous, 1 familial primary localized cutaneous amyloidosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0024523 MONDO:0007194 True aortic valve disease 1 familial bicuspid aortic valve UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0024523 MONDO:0007194 True aortic valve disease 1 familial bicuspid aortic valve UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS MONDO:0024524 MONDO:0000736 True dyschromatosis universalis hereditaria 1 dyschromatosis universalis hereditaria UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0024526 MONDO:0000200 True Zimmermann-Laband syndrome 1 Zimmermann-Laband syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0024527 MONDO:0007671 True glomerulopathy with fibronectin deposits 1 fibronectin glomerulopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING @@ -16783,25 +9338,22 @@ MONDO:0024531 MONDO:0008051 True myopathy, tubular aggregate, 1 tubular aggregat MONDO:0024532 MONDO:0008163 True otofaciocervical syndrome 1 otofaciocervical syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0024533 MONDO:0017148 True pulmonary hypertension, primary, 1 heritable pulmonary arterial hypertension UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0024535 MONDO:0008429 True Singleton-Merten syndrome 1 Singleton-Merten dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0024536 MONDO:0008733 True glucocorticoid deficiency 1 familial glucocorticoid deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0024537 MONDO:0008891 True Brown-Vialetto-van Laere syndrome 1 riboflavin transporter deficiency UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0024536 MONDO:0008733 True glucocorticoid deficiency 1 familial glucocorticoid deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0024537 MONDO:0008891 True Brown-Vialetto-van Laere syndrome 1 riboflavin transporter deficiency UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS MONDO:0024538 MONDO:0008947 True basal ganglia calcification, idiopathic, 1 bilateral striopallidodentate calcinosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0024539 MONDO:0008982 True choroidal dystrophy, central areolar, 1 central areolar choroidal dystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0024540 MONDO:0002441 True Jervell and Lange-Nielsen syndrome 1 Jervell and Lange-Nielsen syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0024541 MONDO:0009105 True trichohepatoenteric syndrome 1 trichohepatoenteric syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0024541 MONDO:0009105 True trichohepatoenteric syndrome 1 trichohepatoenteric syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS MONDO:0024542 MONDO:0009133 True cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 1 cerebellar ataxia, intellectual disability, and dysequilibrium UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0024543 MONDO:0009242 True brittle cornea syndrome 1 brittle cornea syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0024545 MONDO:0009685 True Miyoshi muscular dystrophy 1 Miyoshi myopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0024545 MONDO:0009685 True Miyoshi muscular dystrophy 1 Miyoshi myopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS MONDO:0024546 MONDO:0016620 True hypertrophic osteoarthropathy, primary, autosomal recessive, 1 primary hypertrophic osteoarthropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0024547 MONDO:0009832 True pancreatic agenesis 1 pancreatic agenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0024548 MONDO:0010033 True peeling skin syndrome 1 generalized peeling skin syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0024549 MONDO:0000170 True microphthalmia with coloboma 1 microphthalmia, isolated, with coloboma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0024550 MONDO:0015942 True frontometaphyseal dysplasia 1 frontometaphyseal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0024551 MONDO:0010627 True X-linked lymphoproliferative disease due to SH2D1A deficiency X-linked lymphoproliferative syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0024552 MONDO:0010672 True linear skin defects with multiple congenital anomalies 1 linear skin defects with multiple congenital anomalies UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0024553 MONDO:0000863 True myopathy, lactic acidosis, and sideroblastic anemia 1 myopathy, lactic acidosis, and sideroblastic anemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0024554 MONDO:0010924 True D-2-hydroxyglutaric aciduria 1 D-2-hydroxyglutaric aciduria UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0024555 MONDO:0011391 True megalencephalic leukoencephalopathy with subcortical cysts 1 megalencephalic leukoencephalopathy with subcortical cysts UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0024550 MONDO:0015942 True frontometaphyseal dysplasia 1 frontometaphyseal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0024552 MONDO:0010672 True linear skin defects with multiple congenital anomalies 1 linear skin defects with multiple congenital anomalies UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0024553 MONDO:0000863 True myopathy, lactic acidosis, and sideroblastic anemia 1 myopathy, lactic acidosis, and sideroblastic anemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0024554 MONDO:0010924 True D-2-hydroxyglutaric aciduria 1 D-2-hydroxyglutaric aciduria UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS MONDO:0024556 MONDO:0020310 True epilepsy, familial focal, with variable foci 1 familial focal epilepsy with variable foci UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0024557 MONDO:0011457 True ataxia-telangiectasia-like disorder 1 ataxia-telangiectasia-like disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0024558 MONDO:0011555 True radioulnar synostosis with amegakaryocytic thrombocytopenia 1 radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING @@ -16810,30 +9362,36 @@ MONDO:0024560 MONDO:0011827 True PDA1 patent ductus arteriosus UNSUPPORTED-MISSI MONDO:0024562 MONDO:0012061 True sick sinus syndrome 1 familial sick sinus syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0024564 MONDO:0012815 True cerebroretinal microangiopathy with calcifications and cysts 1 Coats plus syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0024565 MONDO:0013311 True ectodermal dysplasia-syndactyly syndrome 1 ectodermal dysplasia-syndactyly syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0024566 MONDO:0000032 True febrile seizures, familial, 11 febrile seizures, familial UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0024566 MONDO:0000032 True febrile seizures, familial, 11 febrile seizures, familial UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS MONDO:0024567 MONDO:0014176 True hypotonia, infantile, with psychomotor retardation and characteristic facies 1 hypotonia, infantile, with psychomotor retardation and characteristic facies UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0024568 MONDO:0000023 True infantile liver failure syndrome 1 infantile liver failure UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0024573 MONDO:0005045 True familial hypertrophic cardiomyopathy hypertrophic cardiomyopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0024568 MONDO:0000023 True infantile liver failure syndrome 1 infantile liver failure UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0024571 MONDO:0024572 True AIDS-related disorder immunodeficiency-related disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0024573 MONDO:0005045 True familial hypertrophic cardiomyopathy hypertrophic cardiomyopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0024582 MONDO:0003150 True male reproductive system neoplasm male reproductive system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0024582 MONDO:0006054 True male reproductive system neoplasm reproductive system neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0024607 MONDO:0019950 True congenital muscular dystrophy with cataracts and intellectual disability congenital muscular dystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0024608 MONDO:0002428 True dientamoebiasis protozoa infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0024609 MONDO:0002195 True vulvar squamous cell carcinoma vulvar squamous neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0024609 MONDO:0005096 True vulvar squamous cell carcinoma squamous cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0024609 MONDO:0005215 True vulvar squamous cell carcinoma vulvar carcinoma UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0024609 MONDO:0005096 True vulvar squamous cell carcinoma squamous cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0024609 MONDO:0005215 True vulvar squamous cell carcinoma vulvar carcinoma UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0024612 MONDO:0004985 True manic bipolar affective disorder bipolar disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0024613 MONDO:0002050 True bipolar depression depressive disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0024613 MONDO:0004985 True bipolar depression bipolar disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0024614 MONDO:0002050 True neurotic depression depressive disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0024615 MONDO:0005157 True T-cell and NK-cell neoplasm lymphoid neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0024619 MONDO:0002602 True central nervous system infectious disorder central nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0024619 MONDO:0020010 True central nervous system infectious disorder infectious disorder of the nervous system UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0024621 MONDO:0005278 True serous cystadenocarcinoma serous adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0024621 MONDO:0005596 True serous cystadenocarcinoma cystadenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0024622 MONDO:0004970 True thyroid gland adenocarcinoma adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0024622 MONDO:0015075 True thyroid gland adenocarcinoma thyroid gland carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0024622 MONDO:0004970 True thyroid gland adenocarcinoma adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0024622 MONDO:0015075 True thyroid gland adenocarcinoma thyroid gland carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0024637 MONDO:0004992 True malignant soft tissue neoplasm cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0024637 MONDO:0006424 True malignant soft tissue neoplasm soft tissue neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0024638 MONDO:0003525 True pancreatic gastrinoma pancreatic gastrin-producing neuroendocrine tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0024638 MONDO:0023206 True pancreatic gastrinoma functional pancreatic neuroendocrine tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0024639 MONDO:0015062 True gastric enterochromaffin cell serotonin-producing neuroendocrine tumor gastric neuroendocrine tumor, well differentiated, low or intermediate grade UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0024642 MONDO:0015062 True gastric neuroendocrine tumor G2 gastric neuroendocrine tumor, well differentiated, low or intermediate grade UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0024643 MONDO:0005267 True myocardial disorder heart disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0024645 MONDO:0005070 True retroperitoneal neoplasm neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0024647 MONDO:0002118 True urolithiasis urinary system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0024647 MONDO:0002118 True urolithiasis urinary system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0024649 MONDO:0016167 True optic tract astrocytoma optic pathway glioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0024653 MONDO:0005586 True skull neoplasm head and neck neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0024653 MONDO:0024654 True skull neoplasm skull disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -16846,17 +9404,18 @@ MONDO:0024660 MONDO:0004972 True tubular adenoma adenoma UNSUPPORTED-MISSING UNS MONDO:0024661 MONDO:0004972 True tubulovillous adenoma adenoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0024662 MONDO:0005484 True colorectal tubulovillous adenoma colorectal adenoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0024662 MONDO:0024661 True colorectal tubulovillous adenoma tubulovillous adenoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0024664 MONDO:0024575 True hypertension, pregnancy-induced pregnancy disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0024666 MONDO:0021440 True benign epithelial skin neoplasm benign neoplasm of skin UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0024666 MONDO:0021634 True benign epithelial skin neoplasm epithelial skin neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0024666 MONDO:0036976 True benign epithelial skin neoplasm benign epithelial neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0024673 MONDO:0002013 True skin lymphangioma lymphangioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0024674 MONDO:0021058 True Pancoast syndrome neoplastic syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0024675 MONDO:0019004 True adult kidney Wilms tumor kidney Wilms tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0024676 MONDO:0019004 True childhood kidney Wilms tumor kidney Wilms tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0024676 MONDO:0036511 True childhood kidney Wilms tumor childhood malignant kidney neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0024677 MONDO:0005048 True pancreatic insulinoma pancreatic insulin-producing neuroendocrine tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0024677 MONDO:0023206 True pancreatic insulinoma functional pancreatic neuroendocrine tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0024685 MONDO:0004643 True Philadelphia-positive myelogenous leukemia myeloid leukemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0024686 MONDO:0002400 True tenosynovial giant cell tumor, diffuse type synovitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0024686 MONDO:0002522 True tenosynovial giant cell tumor, diffuse type tenosynovial giant cell tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0024686 MONDO:0024715 True tenosynovial giant cell tumor, diffuse type benign synovial neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0024711 MONDO:0002367 True malignant mixed epithelial stromal tumor of the kidney kidney cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -16871,7 +9430,7 @@ MONDO:0024757 MONDO:0004995 True cardiovascular neoplasm cardiovascular disorder MONDO:0024757 MONDO:0005070 True cardiovascular neoplasm neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0024770 MONDO:0031384 True autoinflammatory syndrome, familial, X-linked, Behcet-like 2 autoinflammatory syndrome, familial, Behcet-like UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0024771 MONDO:0018949 True myopathy, distal, 7, adult-onset, X-linked distal myopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0024772 MONDO:0020119 True intellectual developmental disorder, X-linked, syndromic, Pilorge type X-linked syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0024772 MONDO:0020119 True intellectual developmental disorder, X-linked, syndromic, Pilorge type X-linked syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS MONDO:0024773 MONDO:0004983 True spermatogenic failure, X-linked, 4 spermatogenic failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0024777 MONDO:0021094 True immunodeficiency 98 with autoinflammation, X-linked immunodeficiency disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0024781 MONDO:0021094 True immunodeficiency 102 immunodeficiency disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING @@ -16896,29 +9455,23 @@ MONDO:0024885 MONDO:0037255 True malignant ovarian serous tumor ovarian serous t MONDO:0024886 MONDO:0006071 True serous adenofibroma adenofibroma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0024890 MONDO:0021193 True pineal parenchymal cell neoplasm neuroepithelial neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0024890 MONDO:0021232 True pineal parenchymal cell neoplasm pineal body neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0024892 MONDO:0006424 True soft tissue amyloid neoplasm soft tissue neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0024892 MONDO:0019065 True soft tissue amyloid neoplasm amyloidosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0024988 MONDO:0000383 True sex cord-stromal benign neoplasm benign reproductive system neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0025193 MONDO:0016106 True oculopharyngodistal myopathy progressive muscular dystrophy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0025193 MONDO:0018949 True oculopharyngodistal myopathy distal myopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS -MONDO:0025353 MONDO:0100062 True developmental and epileptic encephalopathy, 90 developmental and epileptic encephalopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0025354 MONDO:0004983 True spermatogenic failure, X-linked, 3 spermatogenic failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0025514 MONDO:0018882 True livedoid vasculopathy vasculitis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0025556 MONDO:0004784 True isocyanate induced asthma allergic asthma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0025353 MONDO:0100062 True developmental and epileptic encephalopathy, 90 developmental and epileptic encephalopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0025354 MONDO:0004983 True spermatogenic failure, X-linked, 3 spermatogenic failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS MONDO:0025690 MONDO:0100328 True microcephaly, epilepsy, and diabetes syndrome 2 microcephaly, epilepsy, and diabetes syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0025691 MONDO:0044807 True dystonia 30 inherited dystonia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0025699 MONDO:0015452 True Coffin-Siris syndrome 12 Coffin-Siris syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0025701 MONDO:0019046 True leukodystrophy, hypomyelinating, 22 leukodystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0025699 MONDO:0015452 True Coffin-Siris syndrome 12 Coffin-Siris syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0025701 MONDO:0019046 True leukodystrophy, hypomyelinating, 22 leukodystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS MONDO:0025708 MONDO:0025986 True megacystis-microcolon-intestinal hypoperistalsis syndrome 2 megacystis-microcolon-intestinal hypoperistalsis syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0025712 MONDO:0019623 True angioedema, hereditary, 4 hereditary angioedema UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0025713 MONDO:0019623 True angioedema, hereditary, 7 hereditary angioedema UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0026720 MONDO:0100223 True mitochondrial complex 1 deficiency, nuclear type 12 mitochondrial complex I deficiency, nuclear type UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0026721 MONDO:0100223 True mitochondrial complex 1 deficiency, nuclear type 30 mitochondrial complex I deficiency, nuclear type UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0026722 MONDO:0003847 True Mullegama-Klein-Martinez syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0026720 MONDO:0100223 True mitochondrial complex 1 deficiency, nuclear type 12 mitochondrial complex I deficiency, nuclear type UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0026721 MONDO:0100223 True mitochondrial complex 1 deficiency, nuclear type 30 mitochondrial complex I deficiency, nuclear type UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS MONDO:0026723 MONDO:0019181 True intellectual developmental disorder, X-linked 108 non-syndromic X-linked intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0026724 MONDO:0020119 True Paganini-Miozzo syndrome X-linked syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0026726 MONDO:0002350 True nephrotic syndrome, type 20 familial nephrotic syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0026727 MONDO:0003847 True Shukla-Vernon syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0026729 MONDO:0005500 True congenital disorder of glycosylation, type ICC congenital disorder of glycosylation type I UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0026724 MONDO:0020119 True Paganini-Miozzo syndrome X-linked syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0026726 MONDO:0002350 True nephrotic syndrome, type 20 familial nephrotic syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0026729 MONDO:0005500 True congenital disorder of glycosylation, type ICC congenital disorder of glycosylation type I UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS MONDO:0026731 MONDO:0000045 True hypothyroidism, congenital, nongoitrous, 8 hypothyroidism, congenital, nongoitrous UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0026732 MONDO:0000045 True hypothyroidism, congenital, nongoitrous, 9 hypothyroidism, congenital, nongoitrous UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0026733 MONDO:0020119 True intellectual developmental disorder, X-linked, syndromic, Hackmann-Di Donato type X-linked syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING @@ -16926,100 +9479,90 @@ MONDO:0026762 MONDO:0025445 True Wieacker-Wolff syndrome, female-restricted Wiea MONDO:0026763 MONDO:0016296 True holoprosencephaly 13, X-linked holoprosencephaly UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0026765 MONDO:0005501 True congenital disorder of glycosylation, type IIr congenital disorder of glycosylation type II UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0026767 MONDO:0021094 True immunodeficiency 74, COVID-19-related, X-linked immunodeficiency disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0026771 MONDO:0100062 True developmental and epileptic encephalopathy, 85, with or without midline brain defects developmental and epileptic encephalopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0026777 MONDO:0019751 True VEXAS syndrome autoinflammatory syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0027048 MONDO:0033304 True deafness, Y-linked 2 nonsyndromic deafness, Y-linked UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0027069 MONDO:0014471 True mitochondrial complex 5 (ATP synthase) deficiency, mitochondrial type 1 mitochondrial proton-transporting ATP synthase complex deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED -MONDO:0027353 MONDO:0015780 True autosomal recessive dyskeratosis congenita 4 dyskeratosis congenita UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0027407 MONDO:0012455 True Kleefstra syndrome 1 Kleefstra syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0027676 MONDO:0019719 True congenital anomalies of kidney and urinary tract 2 congenital anomaly of kidney and urinary tract UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0026771 MONDO:0100062 True developmental and epileptic encephalopathy, 85, with or without midline brain defects developmental and epileptic encephalopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0027048 MONDO:0033304 True deafness, Y-linked 2 nonsyndromic deafness, Y-linked UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0027407 MONDO:0012455 True Kleefstra syndrome 1 Kleefstra syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0027676 MONDO:0019719 True congenital anomalies of kidney and urinary tract 2 congenital anomaly of kidney and urinary tract UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS MONDO:0027694 MONDO:0005144 True amyotrophic lateral sclerosis type 23 familial amyotrophic lateral sclerosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0027766 MONDO:0006573 True generalized lipodystrophy lipodystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0027767 MONDO:0006573 True partial lipodystrophy lipodystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0027772 MONDO:0004957 True lung colloid adenocarcinoma mucinous adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0027772 MONDO:0005061 True lung colloid adenocarcinoma lung adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0028226 MONDO:0018542 True autosomal recessive severe congenital neutropenia severe congenital neutropenia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0027766 MONDO:0006573 True generalized lipodystrophy lipodystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0027767 MONDO:0006573 True partial lipodystrophy lipodystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0027772 MONDO:0004957 True lung colloid adenocarcinoma mucinous adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0027772 MONDO:0005061 True lung colloid adenocarcinoma lung adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0028226 MONDO:0018542 True autosomal recessive severe congenital neutropenia severe congenital neutropenia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0029132 MONDO:0008323 True Liddle syndrome 3 Liddle syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0029133 MONDO:0015151 True muscular dystrophy, limb-girdle, autosomal dominant 4 muscular dystrophy, limb-girdle, autosomal dominant UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0029134 MONDO:0006025 True severe combined immunodeficiency due to CARMIL2 deficiency autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0029135 MONDO:0000173 True muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 8 muscular dystrophy-dystroglycanopathy, type C UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0029135 MONDO:0015152 True muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 8 autosomal recessive limb-girdle muscular dystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0029136 MONDO:0015152 True muscular dystrophy, limb-girdle, autosomal recessive 23 autosomal recessive limb-girdle muscular dystrophy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0029137 MONDO:0019587 True hearing loss, autosomal dominant 74 autosomal dominant nonsyndromic hearing loss UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0029138 MONDO:0100062 True developmental and epileptic encephalopathy, 67 developmental and epileptic encephalopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0029136 MONDO:0015152 True muscular dystrophy, limb-girdle, autosomal recessive 23 autosomal recessive limb-girdle muscular dystrophy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0029137 MONDO:0019587 True hearing loss, autosomal dominant 74 autosomal dominant nonsyndromic hearing loss UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0029138 MONDO:0100062 True developmental and epileptic encephalopathy, 67 developmental and epileptic encephalopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS MONDO:0029141 MONDO:0019501 True Usher syndrome, type 4 Usher syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0029142 MONDO:0019588 True hearing loss, autosomal recessive 111 hearing loss, autosomal recessive UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0029145 MONDO:0000358 True orofacial cleft 8 orofacial cleft UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0029147 MONDO:0004983 True spermatogenic failure 33 spermatogenic failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0029148 MONDO:0004983 True spermatogenic failure 34 spermatogenic failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0029465 MONDO:0100172 True intellectual developmental disorder, autosomal dominant 69 intellectual disability, autosomal dominant UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0029142 MONDO:0019588 True hearing loss, autosomal recessive 111 hearing loss, autosomal recessive UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0029145 MONDO:0000358 True orofacial cleft 8 orofacial cleft UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0029147 MONDO:0004983 True spermatogenic failure 33 spermatogenic failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0029148 MONDO:0004983 True spermatogenic failure 34 spermatogenic failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS MONDO:0030004 MONDO:0020836 True autism, susceptibility to, 20 autism, susceptiblity to UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0030006 MONDO:0000732 True combined oxidative phosphorylation deficiency 40 combined oxidative phosphorylation deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0030007 MONDO:0000732 True combined oxidative phosphorylation deficiency 41 combined oxidative phosphorylation deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0030008 MONDO:0000732 True combined oxidative phosphorylation deficiency 42 combined oxidative phosphorylation deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0030009 MONDO:0008756 True alopecia-intellectual disability syndrome 4 alopecia - intellectual disability syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0030006 MONDO:0000732 True combined oxidative phosphorylation deficiency 40 combined oxidative phosphorylation deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0030007 MONDO:0000732 True combined oxidative phosphorylation deficiency 41 combined oxidative phosphorylation deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0030008 MONDO:0000732 True combined oxidative phosphorylation deficiency 42 combined oxidative phosphorylation deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0030009 MONDO:0008756 True alopecia-intellectual disability syndrome 4 alopecia - intellectual disability syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS MONDO:0030010 MONDO:0018555 True hypogonadotropic hypogonadism 25 with anosmia hypogonadotropic hypogonadism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0030013 MONDO:0021094 True immunodeficiency 66 immunodeficiency disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0030014 MONDO:0015152 True muscular dystrophy, limb-girdle, autosomal recessive 26 autosomal recessive limb-girdle muscular dystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0030015 MONDO:0000159 True bone marrow failure syndrome 6 bone marrow failure syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0030017 MONDO:0000732 True combined oxidative phosphorylation deficiency 43 combined oxidative phosphorylation deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0030019 MONDO:0011773 True anauxetic dysplasia 3 anauxetic dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0030017 MONDO:0000732 True combined oxidative phosphorylation deficiency 43 combined oxidative phosphorylation deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0030019 MONDO:0011773 True anauxetic dysplasia 3 anauxetic dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS MONDO:0030020 MONDO:0000732 True combined oxidative phosphorylation deficiency 44 combined oxidative phosphorylation deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0030026 MONDO:0003847 True retinal dystrophy with leukodystrophy hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0030027 MONDO:0003233 True tremor, hereditary essential, 6 essential tremor UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0030031 MONDO:0018838 True lissencephaly 10 lissencephaly spectrum disorders UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0030027 MONDO:0003233 True tremor, hereditary essential, 6 essential tremor UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0030031 MONDO:0018838 True lissencephaly 10 lissencephaly spectrum disorders UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS MONDO:0030034 MONDO:0020074 True epilepsy, progressive myoclonic, 11 progressive myoclonus epilepsy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0030043 MONDO:0005501 True congenital disorder of glycosylation, type iit congenital disorder of glycosylation type II UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0030044 MONDO:0009626 True pseudo-TORCH syndrome 3 pseudo-TORCH syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0030049 MONDO:0003847 True 46,xx sex reversal 5 hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0030054 MONDO:0100062 True developmental and epileptic encephalopathy, 86 developmental and epileptic encephalopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0030055 MONDO:0015363 True neuronopathy, distal hereditary motor, autosomal recessive 8 neuronopathy, distal hereditary motor, autosomal recessive UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0030054 MONDO:0100062 True developmental and epileptic encephalopathy, 86 developmental and epileptic encephalopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS MONDO:0030056 MONDO:0100238 True Fanconi renotubular syndrome 5 inherited Fanconi renotubular syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0030058 MONDO:0019587 True hearing loss, autosomal dominant 77 autosomal dominant nonsyndromic hearing loss UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0030059 MONDO:0100062 True developmental and epileptic encephalopathy, 87 developmental and epileptic encephalopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0030058 MONDO:0019587 True hearing loss, autosomal dominant 77 autosomal dominant nonsyndromic hearing loss UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0030059 MONDO:0100062 True developmental and epileptic encephalopathy, 87 developmental and epileptic encephalopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS MONDO:0030061 MONDO:0020341 True periventricular nodular heterotopia 9 periventricular nodular heterotopia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0030062 MONDO:0016342 True arrhythmogenic right ventricular dysplasia, familial, 14 familial isolated arrhythmogenic right ventricular dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0030064 MONDO:0016227 True episodic ataxia, type 9 hereditary episodic ataxia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0030066 MONDO:0018305 True granulomatous disease, chronic, autosomal recessive, 5 chronic granulomatous disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0030067 MONDO:0002457 True Treacher Collins syndrome 4 Treacher-Collins syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0030066 MONDO:0018305 True granulomatous disease, chronic, autosomal recessive, 5 chronic granulomatous disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0030067 MONDO:0002457 True Treacher Collins syndrome 4 Treacher-Collins syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS MONDO:0030069 MONDO:0018037 True hyper-IgE recurrent infection syndrome 5, autosomal recessive hyper-IgE syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0030070 MONDO:0018677 True heterotaxy, visceral, 9, autosomal, with male infertility visceral heterotaxy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0030071 MONDO:0003847 True retinitis pigmentosa 89 hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0030072 MONDO:0100062 True developmental and epileptic encephalopathy, 88 developmental and epileptic encephalopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0030074 MONDO:0003847 True spondylometaphyseal dysplasia with corneal dystrophy hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0030072 MONDO:0100062 True developmental and epileptic encephalopathy, 88 developmental and epileptic encephalopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS MONDO:0030077 MONDO:0020831 True vertebral, cardiac, renal, and limb defects syndrome 3 congenital vertebral-cardiac-renal anomalies syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0030087 MONDO:0100164 True diabetes mellitus, permanent neonatal 2 permanent neonatal diabetes mellitus UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0030088 MONDO:0100164 True diabetes mellitus, permanent neonatal 3 permanent neonatal diabetes mellitus UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0030089 MONDO:0100164 True diabetes mellitus, permanent neonatal 4 permanent neonatal diabetes mellitus UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0030105 MONDO:0018116 True galactosemia 4 galactosemia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0030105 MONDO:0018116 True galactosemia 4 galactosemia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0030116 MONDO:0008394 True silver-russell syndrome 2 Silver-Russell syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0030118 MONDO:0008394 True silver-russell syndrome 4 Silver-Russell syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0030134 MONDO:0025193 True oculopharyngodistal myopathy 2 oculopharyngodistal myopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0030258 MONDO:0020135 True pontocerebellar hypoplasia, type 14 pontocerebellar hypoplasia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0030259 MONDO:0020135 True pontocerebellar hypoplasia, type 15 pontocerebellar hypoplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0030260 MONDO:0020135 True pontocerebellar hypoplasia, type 1E pontocerebellar hypoplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0030261 MONDO:0020135 True pontocerebellar hypoplasia, type 1F pontocerebellar hypoplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0030263 MONDO:0019046 True leukodystrophy, hypomyelinating, 21 leukodystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0030134 MONDO:0025193 True oculopharyngodistal myopathy 2 oculopharyngodistal myopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0030258 MONDO:0020135 True pontocerebellar hypoplasia, type 14 pontocerebellar hypoplasia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0030259 MONDO:0020135 True pontocerebellar hypoplasia, type 15 pontocerebellar hypoplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0030260 MONDO:0020135 True pontocerebellar hypoplasia, type 1E pontocerebellar hypoplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0030261 MONDO:0020135 True pontocerebellar hypoplasia, type 1F pontocerebellar hypoplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0030263 MONDO:0019046 True leukodystrophy, hypomyelinating, 21 leukodystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS MONDO:0030266 MONDO:0021094 True immunodeficiency 80 with or without congenital cardiomyopathy immunodeficiency disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0030268 MONDO:0100062 True developmental and epileptic encephalopathy 6B developmental and epileptic encephalopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0030268 MONDO:0100062 True developmental and epileptic encephalopathy 6B developmental and epileptic encephalopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS MONDO:0030270 MONDO:0019313 True lymphatic malformation 9 lymphatic malformation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0030281 MONDO:0015168 True arthrogryposis multiplex congenita 6 arthrogryposis multiplex congenita UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0030281 MONDO:0015168 True arthrogryposis multiplex congenita 6 arthrogryposis multiplex congenita UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS MONDO:0030293 MONDO:0019623 True angioedema, hereditary, 5 hereditary angioedema UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0030294 MONDO:0025986 True megacystis-microcolon-intestinal hypoperistalsis syndrome 3 megacystis-microcolon-intestinal hypoperistalsis syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0030296 MONDO:0025986 True megacystis-microcolon-intestinal hypoperistalsis syndrome 4 megacystis-microcolon-intestinal hypoperistalsis syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0030298 MONDO:0019623 True angioedema, hereditary, 8 hereditary angioedema UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0030300 MONDO:0016333 True cardiomyopathy, dilated, 2D familial dilated cardiomyopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0030302 MONDO:0021094 True immunodeficiency 81 immunodeficiency disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0030307 MONDO:0004983 True spermatogenic failure 55 spermatogenic failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0030307 MONDO:0004983 True spermatogenic failure 55 spermatogenic failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS MONDO:0030308 MONDO:0021094 True immunodeficiency 82 with systemic inflammation immunodeficiency disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0030309 MONDO:0100223 True Leber hereditary optic neuropathy, autosomal recessive mitochondrial complex I deficiency, nuclear type UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0030311 MONDO:0000732 True combined oxidative phosphorylation deficiency 52 combined oxidative phosphorylation deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0030312 MONDO:0015244 True spinocerebellar ataxia, autosomal recessive 29 autosomal recessive cerebellar ataxia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0030312 MONDO:0015244 True spinocerebellar ataxia, autosomal recessive 29 autosomal recessive cerebellar ataxia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS MONDO:0030314 MONDO:0005265 True inflammatory bowel disease (infantile ulcerative colitis) 31, autosomal recessive inflammatory bowel disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0030316 MONDO:0019313 True lymphatic malformation 11 lymphatic malformation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0030317 MONDO:0024573 True cardiomyopathy, familial hypertrophic, 28 familial hypertrophic cardiomyopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0030318 MONDO:0015244 True spinocerebellar ataxia, autosomal recessive 30 autosomal recessive cerebellar ataxia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0030323 MONDO:0015244 True spinocerebellar ataxia, autosomal recessive 31 autosomal recessive cerebellar ataxia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0030318 MONDO:0015244 True spinocerebellar ataxia, autosomal recessive 30 autosomal recessive cerebellar ataxia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0030323 MONDO:0015244 True spinocerebellar ataxia, autosomal recessive 31 autosomal recessive cerebellar ataxia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS MONDO:0030326 MONDO:0018158 True mitochondrial dna depletion syndrome 16B (neuroophthalmic type) mitochondrial DNA depletion syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0030329 MONDO:0025986 True megacystis-microcolon-intestinal hypoperistalsis syndrome 5 megacystis-microcolon-intestinal hypoperistalsis syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0030330 MONDO:0016340 True cardiomyopathy, familial restrictive, 6 familial restrictive cardiomyopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING @@ -17048,32 +9591,32 @@ MONDO:0030397 MONDO:0024193 True portal hypertension, noncirrhotic, 2 portal hyp MONDO:0030399 MONDO:0023961 True visceral neuropathy, familial, 2, autosomal recessive visceral neuropathy, familial UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0030423 MONDO:0005501 True congenital disorder of glycosylation, type 2v congenital disorder of glycosylation type II UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0030428 MONDO:0021094 True immunodeficiency 85 and autoimmunity immunodeficiency disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0030430 MONDO:0004983 True spermatogenic failure 56 spermatogenic failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0030430 MONDO:0004983 True spermatogenic failure 56 spermatogenic failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS MONDO:0030433 MONDO:0015626 True Charcot-Marie-Tooth disease, axonal, type 2FF Charcot-Marie-Tooth disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0030436 MONDO:0020099 True anemia, sideroblastic, 5 inherited sideroblastic anemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0030437 MONDO:0005501 True congenital disorder of glycosylation, type IIw congenital disorder of glycosylation type II UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0030438 MONDO:0020135 True pontocerebellar hypoplasia, type 16 pontocerebellar hypoplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0030439 MONDO:0004983 True spermatogenic failure 57 spermatogenic failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0030438 MONDO:0020135 True pontocerebellar hypoplasia, type 16 pontocerebellar hypoplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0030439 MONDO:0004983 True spermatogenic failure 57 spermatogenic failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS MONDO:0030440 MONDO:0015993 True cone-rod dystrophy 22 cone-rod dystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0030448 MONDO:0021094 True immunodeficiency 86 immunodeficiency disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0030449 MONDO:0019588 True hearing loss, autosomal recessive 118, with cochlear aplasia hearing loss, autosomal recessive UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0030453 MONDO:0100062 True developmental and epileptic encephalopathy 97 developmental and epileptic encephalopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0030453 MONDO:0100062 True developmental and epileptic encephalopathy 97 developmental and epileptic encephalopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS MONDO:0030454 MONDO:0018772 True Joubert syndrome 39 Joubert syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0030455 MONDO:0044807 True dystonia 31 inherited dystonia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0030456 MONDO:0015152 True muscular dystrophy, limb-girdle, autosomal recessive 27 autosomal recessive limb-girdle muscular dystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0030457 MONDO:0021094 True immunodeficiency 87 and autoimmunity immunodeficiency disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0030458 MONDO:0015626 True Charcot-Marie-Tooth disease, axonal, Type 2HH Charcot-Marie-Tooth disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0030462 MONDO:0018772 True Joubert syndrome 40 Joubert syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0030463 MONDO:0004983 True spermatogenic failure 58 spermatogenic failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0030463 MONDO:0004983 True spermatogenic failure 58 spermatogenic failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS MONDO:0030465 MONDO:0005129 True cataract 49 cataract UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0030471 MONDO:0009627 True Galloway-Mowat syndrome 9 Galloway-Mowat syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0030472 MONDO:0100062 True developmental and epileptic encephalopathy 98 developmental and epileptic encephalopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0030473 MONDO:0100062 True developmental and epileptic encephalopathy 99 developmental and epileptic encephalopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0030472 MONDO:0100062 True developmental and epileptic encephalopathy 98 developmental and epileptic encephalopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0030473 MONDO:0100062 True developmental and epileptic encephalopathy 99 developmental and epileptic encephalopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS MONDO:0030474 MONDO:0018677 True heterotaxy, visceral, 10, autosomal, with male infertility visceral heterotaxy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0030475 MONDO:0018677 True heterotaxy, visceral, 11, autosomal, with male infertility visceral heterotaxy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0030476 MONDO:0009627 True Galloway-Mowat syndrome 10 Galloway-Mowat syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0030480 MONDO:0019588 True hearing loss, autosomal recessive 119 hearing loss, autosomal recessive UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0030482 MONDO:0019064 True spastic paraplegia 84, autosomal recessive hereditary spastic paraplegia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0030482 MONDO:0019064 True spastic paraplegia 84, autosomal recessive hereditary spastic paraplegia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS MONDO:0030483 MONDO:0021094 True immunodeficiency 88 immunodeficiency disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0030484 MONDO:0021094 True immunodeficiency 89 and autoimmunity immunodeficiency disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0030486 MONDO:0044807 True dystonia 32 inherited dystonia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING @@ -17081,31 +9624,31 @@ MONDO:0030487 MONDO:0016763 True spondylometaphyseal dysplasia, pagnamenta type MONDO:0030489 MONDO:0017610 True epidermolysis bullosa simplex 2A, generalized severe epidermolysis bullosa simplex UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0030490 MONDO:0014769 True oocyte maturation defect 11 inherited oocyte maturation defect UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0030491 MONDO:0021094 True immunodeficiency 91 and hyperinflammation immunodeficiency disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0030492 MONDO:0004983 True spermatogenic failure 59 spermatogenic failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0030493 MONDO:0004983 True spermatogenic failure 60 spermatogenic failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0030492 MONDO:0004983 True spermatogenic failure 59 spermatogenic failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0030493 MONDO:0004983 True spermatogenic failure 60 spermatogenic failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS MONDO:0030498 MONDO:0021094 True immunodeficiency 92 immunodeficiency disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0030500 MONDO:0018954 True Loeys-Dietz syndrome 6 Loeys-Dietz syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0030503 MONDO:0015762 True cholestasis, progressive familial intrahepatic, 7, with or without hearing loss progressive familial intrahepatic cholestasis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0030505 MONDO:0015762 True cholestasis, progressive familial intrahepatic, 8 progressive familial intrahepatic cholestasis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0030506 MONDO:0009299 True ovarian dysgenesis 9 46 XX gonadal dysgenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0030507 MONDO:0004983 True spermatogenic failure 61 spermatogenic failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0030508 MONDO:0004983 True spermatogenic failure 62 spermatogenic failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0030512 MONDO:0019064 True spastic paraplegia 85, autosomal recessive hereditary spastic paraplegia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0030507 MONDO:0004983 True spermatogenic failure 61 spermatogenic failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0030508 MONDO:0004983 True spermatogenic failure 62 spermatogenic failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0030512 MONDO:0019064 True spastic paraplegia 85, autosomal recessive hereditary spastic paraplegia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS MONDO:0030513 MONDO:0044807 True dystonia 33 inherited dystonia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0030514 MONDO:0019046 True leukodystrophy, hypomyelinating, 23, with ataxia, deafness, liver dysfunction, and dilated cardiomyopathy leukodystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0030515 MONDO:0004983 True spermatogenic failure 63 spermatogenic failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0030514 MONDO:0019046 True leukodystrophy, hypomyelinating, 23, with ataxia, deafness, liver dysfunction, and dilated cardiomyopathy leukodystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0030515 MONDO:0004983 True spermatogenic failure 63 spermatogenic failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS MONDO:0030517 MONDO:0018053 True trichothiodystrophy 8, nonphotosensitive trichothiodystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0030518 MONDO:0018053 True trichothiodystrophy 9, nonphotosensitive trichothiodystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0030519 MONDO:0015977 True agammaglobulinemia 9, autosomal recessive agammaglobulinemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0030522 MONDO:0004983 True spermatogenic failure 64 spermatogenic failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0030519 MONDO:0015977 True agammaglobulinemia 9, autosomal recessive agammaglobulinemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0030522 MONDO:0004983 True spermatogenic failure 64 spermatogenic failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS MONDO:0030523 MONDO:0014769 True oocyte maturation defect 12 inherited oocyte maturation defect UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0030524 MONDO:0019249 True mucopolysaccharidosis, type 10 mucopolysaccharidosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0030525 MONDO:0017610 True epidermolysis bullosa simplex 2B, generalized intermediate epidermolysis bullosa simplex UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0030527 MONDO:0017610 True epidermolysis bullosa simplex 2C, localized epidermolysis bullosa simplex UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0030528 MONDO:0021094 True immunodeficiency 93 and hypertrophic cardiomyopathy immunodeficiency disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0030529 MONDO:0015977 True agammaglobulinemia 10, autosomal dominant agammaglobulinemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0030531 MONDO:0004983 True spermatogenic failure 65 spermatogenic failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0030533 MONDO:0019502 True intellectual developmental disorder, autosomal recessive 73 autosomal recessive non-syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0030529 MONDO:0015977 True agammaglobulinemia 10, autosomal dominant agammaglobulinemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0030531 MONDO:0004983 True spermatogenic failure 65 spermatogenic failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0030533 MONDO:0019502 True intellectual developmental disorder, autosomal recessive 73 autosomal recessive non-syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS MONDO:0030534 MONDO:0018555 True hypogonadotropic hypogonadism 26 with or without anosmia hypogonadotropic hypogonadism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0030535 MONDO:0017610 True epidermolysis bullosa simplex 2d, generalized, intermediate or severe, autosomal recessive epidermolysis bullosa simplex UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0030537 MONDO:0800031 True central hypoventilation syndrome, congenital, 2, and autonomic dysfunction central hypoventilation syndrome, congenital UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING @@ -17113,8 +9656,7 @@ MONDO:0030538 MONDO:0044807 True dystonia 34, myoclonic inherited dystonia UNSUP MONDO:0030539 MONDO:0800031 True central hypoventilation syndrome, congenital, 3 central hypoventilation syndrome, congenital UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0030543 MONDO:0000732 True combined oxidative phosphorylation deficiency 54 combined oxidative phosphorylation deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0030549 MONDO:0019587 True hearing loss, autosomal dominant 81 autosomal dominant nonsyndromic hearing loss UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0030553 MONDO:0019696 True acromesomelic dysplasia 4 acromesomelic dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0030602 MONDO:0004652 True Klebsiella pneumonia bacterial pneumonia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0030553 MONDO:0019696 True acromesomelic dysplasia 4 acromesomelic dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS MONDO:0030604 MONDO:0004356 True cystic partially differentiated nephroblastoma childhood multilocular cystic kidney neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0030604 MONDO:0024676 True cystic partially differentiated nephroblastoma childhood kidney Wilms tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0030606 MONDO:0031200 True Bryant-Li-Bhoj neurodevelopmental syndrome 1 Bryant-Li-Bhoj neurodevelopmental syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING @@ -17124,26 +9666,27 @@ MONDO:0030619 MONDO:0019200 True retinitis pigmentosa 92 retinitis pigmentosa UN MONDO:0030625 MONDO:0031115 True dyskinesia with orofacial involvement, autosomal recessive dyskinesia with orofacial involvement UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0030634 MONDO:0030796 True leukoencephalopathy, hereditary diffuse, with spheroids 2 leukoencephalopathy, hereditary diffuse, with spheroids UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0030669 MONDO:0030831 True gastrointestinal defects and immunodeficiency syndrome 2 gastrointestinal defect and immunodeficiency syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0030673 MONDO:0019064 True spastic paraplegia 86, autosomal recessive hereditary spastic paraplegia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0030674 MONDO:0030639 True Teebi hypertelorism syndrome 2 Teebi hypertelorism syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0030673 MONDO:0019064 True spastic paraplegia 86, autosomal recessive hereditary spastic paraplegia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0030674 MONDO:0030639 True Teebi hypertelorism syndrome 2 Teebi hypertelorism syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS MONDO:0030676 MONDO:0013150 True parkinsonism-dystonia 3, childhood-onset parkinsonism-dystonia, infantile UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0030677 MONDO:0015626 True Charcot-Marie-Tooth disease, demyelinating, IIA 1I Charcot-Marie-Tooth disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0030679 MONDO:0018997 True Noonan syndrome 14 Noonan syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0030680 MONDO:0016333 True cardiomyopathy, dilated, 2F familial dilated cardiomyopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0030681 MONDO:0018037 True immunodeficiency 94 with autoinflammation and dysmorphic facies hyper-IgE syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0030684 MONDO:0018555 True hypogonadotropic hypogonadism 27 without anosmia hypogonadotropic hypogonadism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0030689 MONDO:0015626 True Charcot-Marie-Tooth disease, demyelinating, IIA 1H Charcot-Marie-Tooth disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0030690 MONDO:0000148 True pulmonary fibrosis and/or bone marrow failure, telomere-related, 6 pulmonary fibrosis and/or bone marrow failure, telomere-related UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0030692 MONDO:0021094 True immunodeficiency 95 immunodeficiency disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0030693 MONDO:0021094 True immunodeficiency 96 immunodeficiency disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0030695 MONDO:0100062 True developmental and epileptic encephalopathy 100 developmental and epileptic encephalopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0030695 MONDO:0100062 True developmental and epileptic encephalopathy 100 developmental and epileptic encephalopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS MONDO:0030696 MONDO:0018158 True mitochondrial DNA depletion syndrome 20 (mngie type) mitochondrial DNA depletion syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0030697 MONDO:0001384 True myopia 28, autosomal recessive myopia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0030700 MONDO:0007179 True autoimmune glomerulonephritis autoimmune disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0030701 MONDO:0000603 True autoimmune cardiomyopathy autoimmune disorder of cardiovascular system UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0030702 MONDO:0000603 True autoimmune atherosclerosis autoimmune disorder of cardiovascular system UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0030703 MONDO:0000603 True autoimmune vasculitis autoimmune disorder of cardiovascular system UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0030705 MONDO:0002154 True Trichomonas prostatitis trichomoniasis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0030705 MONDO:0005280 True Trichomonas prostatitis prostatitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0030707 MONDO:0002154 True Trichomonas balanoposthitis trichomoniasis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0030708 MONDO:0002154 True Trichomonas cervicitis trichomoniasis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0030711 MONDO:0019403 True Anemia, congenital dyserythropoietic, type IIIb, autosomal recessive congenital dyserythropoietic anemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0030712 MONDO:0025193 True oculopharyngodistal myopathy 4 oculopharyngodistal myopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0030712 MONDO:0025193 True oculopharyngodistal myopathy 4 oculopharyngodistal myopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS MONDO:0030714 MONDO:0019019 True osteogenesis imperfecta, IIA 22 osteogenesis imperfecta UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0030716 MONDO:0004983 True spermatogenic failure 66 spermatogenic failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0030717 MONDO:0021094 True immunodeficiency 97 with autoinflammation immunodeficiency disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING @@ -17153,7 +9696,7 @@ MONDO:0030721 MONDO:0004983 True spermatogenic failure 68 spermatogenic failure MONDO:0030723 MONDO:0019587 True hearing loss, autosomal dominant 83 autosomal dominant nonsyndromic hearing loss UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0030724 MONDO:0019587 True hearing loss, autosomal dominant 84 autosomal dominant nonsyndromic hearing loss UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0030726 MONDO:0018542 True neutropenia, severe congenital, 9, autosomal dominant severe congenital neutropenia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0030727 MONDO:0100062 True developmental and epileptic encephalopathy 101 developmental and epileptic encephalopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0030727 MONDO:0100062 True developmental and epileptic encephalopathy 101 developmental and epileptic encephalopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS MONDO:0030729 MONDO:0031400 True Tessadori-van Haaften neurodevelopmental syndrome 1 Tessadori-Van-Haaften neurodevelopmental syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0030730 MONDO:0031400 True Tessadori-van Haaften neurodevelopmental syndrome 2 Tessadori-Van-Haaften neurodevelopmental syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0030731 MONDO:0019625 True aortic aneurysm, familial thoracic 12 familial thoracic aortic aneurysm and aortic dissection UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING @@ -17168,14 +9711,13 @@ MONDO:0030750 MONDO:0017612 True epidermolysis bullosa, junctional 4, intermedia MONDO:0030756 MONDO:0031280 True Stuve-Wiedemann syndrome 2 Stuve-Wiedemann syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0030768 MONDO:0017612 True epidermolysis bullosa, junctional 5A, intermediate junctional epidermolysis bullosa UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0030770 MONDO:0031376 True congenital disorder of deglycosylation 2 congenital disorder of deglycosylation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0030781 MONDO:0031213 True restrictive dermopathy 2 restrictive dermopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0030785 MONDO:0019502 True intellectual developmental disorder, autosomal recessive 75, with neuropsychiatric features and variant lissencephaly autosomal recessive non-syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0030781 MONDO:0031213 True restrictive dermopathy 2 restrictive dermopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0030785 MONDO:0019502 True intellectual developmental disorder, autosomal recessive 75, with neuropsychiatric features and variant lissencephaly autosomal recessive non-syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS MONDO:0030787 MONDO:0004983 True spermatogenic failure 71 spermatogenic failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0030797 MONDO:0019200 True retinitis pigmentosa 93 retinitis pigmentosa UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0030798 MONDO:0021094 True immunodeficiency 99 with hypogammaglobulinemia and autoimmune cytopenias immunodeficiency disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0030800 MONDO:0015762 True cholestasis, progressive familial intrahepatic, 9 progressive familial intrahepatic cholestasis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0030801 MONDO:0044645 True monosomy 7 myelodysplasia and leukemia syndrome 2 familial monosomy 7 syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0030805 MONDO:0020380 True spinocerebellar ataxia 49 autosomal dominant cerebellar ataxia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0030809 MONDO:0004983 True spermatogenic failure 72 spermatogenic failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0030810 MONDO:0015762 True cholestasis, progressive familial intrahepatic, 10 progressive familial intrahepatic cholestasis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0030813 MONDO:0021094 True immunodeficiency 101 (varicella zoster virus-specific) immunodeficiency disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING @@ -17188,449 +9730,348 @@ MONDO:0030839 MONDO:0031432 True thyroid hormone metabolism, abnormal, 2 thyroid MONDO:0030840 MONDO:0031219 True mismatch repair cancer syndrome 2 mismatch repair cancer syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0030841 MONDO:0031219 True mismatch repair cancer syndrome 3 mismatch repair cancer syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0030843 MONDO:0031219 True mismatch repair cancer syndrome 4 mismatch repair cancer syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0030844 MONDO:0004983 True spermatogenic failure 47 spermatogenic failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0030846 MONDO:0004983 True spermatogenic failure 48 spermatogenic failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0030847 MONDO:0019942 True arthrogryposis, distal, type 1C distal arthrogryposis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0030844 MONDO:0004983 True spermatogenic failure 47 spermatogenic failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0030846 MONDO:0004983 True spermatogenic failure 48 spermatogenic failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0030847 MONDO:0019942 True arthrogryposis, distal, type 1C distal arthrogryposis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS MONDO:0030854 MONDO:0016470 True combined osteogenesis imperfecta and Ehlers-Danlos syndrome 1 Ehlers-Danlos/osteogenesis imperfecta syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0030855 MONDO:0016470 True combined osteogenesis imperfecta and Ehlers-Danlos syndrome 2 Ehlers-Danlos/osteogenesis imperfecta syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0030856 MONDO:0100062 True developmental and epileptic encephalopathy 89 developmental and epileptic encephalopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0030856 MONDO:0100062 True developmental and epileptic encephalopathy 89 developmental and epileptic encephalopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS MONDO:0030858 MONDO:0021094 True immunodeficiency 75 immunodeficiency disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0030861 MONDO:0019019 True osteogenesis imperfecta, type 21 osteogenesis imperfecta UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0030861 MONDO:0019019 True osteogenesis imperfecta, type 21 osteogenesis imperfecta UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS MONDO:0030864 MONDO:0019078 True Ritscher-Schinzel syndrome 3 Ritscher-Schinzel syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0030867 MONDO:0100241 True thrombocytopenia 7 inherited thrombocytopenia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0030868 MONDO:0004983 True spermatogenic failure 49 spermatogenic failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0030869 MONDO:0004983 True spermatogenic failures 50 spermatogenic failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0030868 MONDO:0004983 True spermatogenic failure 49 spermatogenic failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0030869 MONDO:0004983 True spermatogenic failures 50 spermatogenic failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS MONDO:0030870 MONDO:0019852 True premature ovarian failure 17 inherited primary ovarian failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0030871 MONDO:0003847 True vertebral hypersegmentation and orofacial anomalies hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0030872 MONDO:0005144 True frontotemporal dementia and/or amyotrophic lateral sclerosis 8 familial amyotrophic lateral sclerosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0030875 MONDO:0005144 True frontotemporal dementia and/or amyotrophic lateral sclerosis 5 familial amyotrophic lateral sclerosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0030876 MONDO:0031386 True cardioacrofacial dysplasia 1 cardioacrofacial dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0030877 MONDO:0031386 True cardioacrofacial dysplasia 2 cardioacrofacial dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0030881 MONDO:0100062 True developmental and epileptic encephalopathy 102 developmental and epileptic encephalopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0030881 MONDO:0100062 True developmental and epileptic encephalopathy 102 developmental and epileptic encephalopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS MONDO:0030883 MONDO:0007275 True carpal tunnel syndrome 2 carpal tunnel syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0030885 MONDO:0005144 True amyotrophic lateral sclerosis 26 with or without frontotemporal dementia familial amyotrophic lateral sclerosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0030886 MONDO:0016296 True holoprosencephaly 14 holoprosencephaly UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0030887 MONDO:0016333 True cardiomyopathy, dilated, 2G familial dilated cardiomyopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0030890 MONDO:0020135 True pontocerebellar hypoplasia, IIA 17 pontocerebellar hypoplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0030891 MONDO:0100172 True intellectual developmental disorder, autosomal dominant 66 intellectual disability, autosomal dominant UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0030894 MONDO:0000159 True AMED syndrome, digenic bone marrow failure syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0030895 MONDO:0002350 True nephrotic syndrome, type 22 familial nephrotic syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0030895 MONDO:0002350 True nephrotic syndrome, type 22 familial nephrotic syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS MONDO:0030898 MONDO:0021094 True immunodeficiency 76 immunodeficiency disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0030899 MONDO:0018910 True oculocutaneous albinism type 8 oculocutaneous albinism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0030899 MONDO:0018910 True oculocutaneous albinism type 8 oculocutaneous albinism UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0030902 MONDO:0100223 True mitochondrial complex 1 deficiency, nuclear type 36 mitochondrial complex I deficiency, nuclear type UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0030903 MONDO:0019312 True Hermansky-Pudlak syndrome 11 Hermansky-Pudlak syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0030905 MONDO:0019588 True hearing loss, autosomal recessive 117 hearing loss, autosomal recessive UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0030906 MONDO:0002154 True Trichomonas tenax infectious disease trichomoniasis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0030907 MONDO:0019181 True intellectual disability, X-linked 106 non-syndromic X-linked intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0030908 MONDO:0020119 True intellectual disability, X-linked, syndromic, 35 X-linked syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0030909 MONDO:0020119 True intellectual disability, X-linked, syndromic, Houge type X-linked syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0030910 MONDO:0015802 True intellectual disability, autosomal dominant 45 autosomal dominant non-syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0030911 MONDO:0015802 True intellectual disability, autosomal dominant 46 autosomal dominant non-syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0030912 MONDO:0015159 True intellectual disability, autosomal dominant 47 multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0030912 MONDO:0015802 True intellectual disability, autosomal dominant 47 autosomal dominant non-syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0030913 MONDO:0015159 True intellectual disability, autosomal dominant 48 multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0030907 MONDO:0019181 True intellectual disability, X-linked 106 non-syndromic X-linked intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0030908 MONDO:0020119 True intellectual disability, X-linked, syndromic, 35 X-linked syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0030909 MONDO:0020119 True intellectual disability, X-linked, syndromic, Houge type X-linked syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS MONDO:0030913 MONDO:0100172 True intellectual disability, autosomal dominant 48 intellectual disability, autosomal dominant UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0030914 MONDO:0015802 True Clark-Baraitser syndrome autosomal dominant non-syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0030915 MONDO:0019502 True intellectual disability, autosomal recessive 61 autosomal recessive non-syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0030916 MONDO:0015802 True intellectual disability, autosomal dominant 50 autosomal dominant non-syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0030917 MONDO:0015802 True intellectual disability, autosomal dominant 51 autosomal dominant non-syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0030918 MONDO:0015802 True intellectual disability, autosomal dominant 52 autosomal dominant non-syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0030919 MONDO:0015802 True intellectual disability, autosomal dominant 53 autosomal dominant non-syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0030920 MONDO:0015802 True intellectual disability, autosomal dominant 54 autosomal dominant non-syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0030921 MONDO:0015802 True intellectual disability, autosomal dominant 55, with seizures autosomal dominant non-syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0030922 MONDO:0015802 True intellectual disability, autosomal dominant 56 autosomal dominant non-syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0030915 MONDO:0019502 True intellectual disability, autosomal recessive 61 autosomal recessive non-syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS MONDO:0030924 MONDO:0009726 True proteasome-associated autoinflammatory syndrome 5 proteosome-associated autoinflammatory syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0030925 MONDO:0014769 True oocyte maturation defect 10 inherited oocyte maturation defect UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0030926 MONDO:0004983 True spermatogenic failure 51 spermatogenic failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0030927 MONDO:0018943 True myofibrillar myopathy 11 myofibrillar myopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0030926 MONDO:0004983 True spermatogenic failure 51 spermatogenic failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0030927 MONDO:0018943 True myofibrillar myopathy 11 myofibrillar myopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS MONDO:0030931 MONDO:0009726 True proteasome-associated autoinflammatory syndrome 4 proteosome-associated autoinflammatory syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0030933 MONDO:0018772 True Joubert syndrome 37 Joubert syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0030934 MONDO:0100172 True intellectual developmental disorder, autosomal dominant 64 intellectual disability, autosomal dominant UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0030935 MONDO:0031230 True mitochondrial complex 2 deficiency, nuclear type 2 mitochondrial complex II deficiency, nuclear type UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0030936 MONDO:0020074 True epilepsy, progressive myoclonic, 12 progressive myoclonus epilepsy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0030937 MONDO:0031230 True mitochondrial complex 2 deficiency, nuclear type 3 mitochondrial complex II deficiency, nuclear type UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0030938 MONDO:0004983 True spermatogenic failure 52 spermatogenic failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0030938 MONDO:0004983 True spermatogenic failure 52 spermatogenic failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS MONDO:0030939 MONDO:0019852 True premature ovarian failure 18 inherited primary ovarian failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0030941 MONDO:0017851 True erythrokeratodermia variabilis et progressiva 7 erythrokeratodermia variabilis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0030953 MONDO:0031439 True short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies 2 short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0030957 MONDO:0100062 True developmental and epileptic encephalopathy 103 developmental and epileptic encephalopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0030958 MONDO:0044807 True dystonia 35, childhood-onset inherited dystonia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0030961 MONDO:0031421 True Olmsted syndrome 2 Olmsted syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0030962 MONDO:0002350 True nephrotic syndrome, type 23 familial nephrotic syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0030964 MONDO:0100172 True intellectual developmental disorder, autosomal dominant 67 intellectual disability, autosomal dominant UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0030968 MONDO:0019502 True intellectual developmental disorder, autosomal recessive 76 autosomal recessive non-syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0030969 MONDO:0100172 True intellectual developmental disorder, autosomal dominant 68 intellectual disability, autosomal dominant UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0030970 MONDO:0021094 True immunodeficiency 106, susceptibility to viral infections immunodeficiency disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0030962 MONDO:0002350 True nephrotic syndrome, type 23 familial nephrotic syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS MONDO:0030971 MONDO:0021094 True immunodeficiency 78 with autoimmunity and developmental delay immunodeficiency disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0030972 MONDO:0004983 True spermatogenic failure 74 spermatogenic failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0030973 MONDO:0021094 True immunodeficiency 77 immunodeficiency disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0030974 MONDO:0031230 True mitochondrial complex 2 deficiency, nuclear type 4 mitochondrial complex II deficiency, nuclear type UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0030975 MONDO:0019852 True premature ovarian failure 20 inherited primary ovarian failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0030977 MONDO:0015363 True neuronopathy, distal hereditary motor, autosomal recessive 7 neuronopathy, distal hereditary motor, autosomal recessive UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0030983 MONDO:0018094 True Waardenburg syndrome, IIa 2F Waardenburg syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0030984 MONDO:0004983 True spermatogenic failure 75 spermatogenic failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0030985 MONDO:0019852 True premature ovarian failure 19 inherited primary ovarian failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0030989 MONDO:0004983 True spermatogenic failure 53 spermatogenic failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0030993 MONDO:0031400 True Tessadori-Van Haaften neurodevelopmental syndrome 3 Tessadori-Van-Haaften neurodevelopmental syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0030989 MONDO:0004983 True spermatogenic failure 53 spermatogenic failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS MONDO:0030996 MONDO:0000009 True bleeding disorder, platelet-type, 24 inherited bleeding disorder, platelet-type UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0030997 MONDO:0100223 True mitochondrial complex 1 deficiency, nuclear type 37 mitochondrial complex I deficiency, nuclear type UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0030998 MONDO:0019587 True hearing loss, autosomal dominant 80 autosomal dominant nonsyndromic hearing loss UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0031000 MONDO:0031400 True Tessadori-Van Haaften neurodevelopmental syndrome 4 Tessadori-Van-Haaften neurodevelopmental syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0031003 MONDO:0100327 True hypercholanemia, familial, 2 hypercholanemia, familial UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0031009 MONDO:0100326 True Glanzmann thrombasthenia 2 Glanzmann thrombasthenia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0031010 MONDO:0031169 True odontochondrodysplasia 2 with hearing loss and diabetes odontochondrodysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0031012 MONDO:0000587 True autoimmune uveitis autoimmune disease of ear, nose and throat UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0031013 MONDO:0000590 True autoimmune optic neuritis autoimmune disorder of peripheral nervous system UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0031014 MONDO:0000588 True autoimmune gastritis autoimmune disorder of gastrointestinal tract UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0031019 MONDO:0019064 True spastic paraplegia 87, autosomal recessive hereditary spastic paraplegia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0031021 MONDO:0100062 True developmental and epileptic encephalopathy 104 developmental and epileptic encephalopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0031028 MONDO:0100062 True developmental and epileptic encephalopathy 105 with hypopituitarism developmental and epileptic encephalopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0031030 MONDO:0021094 True immunodeficiency 107, susceptibility to invasive staphylococcus aureus infection immunodeficiency disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0031031 MONDO:0019502 True intellectual developmental disorder, autosomal recessive 77 autosomal recessive non-syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0031040 MONDO:0015762 True cholestasis, progressive familial intrahepatic, 12 progressive familial intrahepatic cholestasis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0031043 MONDO:0019313 True lymphatic malformation 12 lymphatic malformation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0031044 MONDO:0015609 True advance sleep phase syndrome, familial, 4 advanced sleep phase syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0031045 MONDO:0019942 True arthrogryposis, distal, IIa 11 distal arthrogryposis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0031047 MONDO:0019354 True stickler syndrome, IIa 6 Stickler syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0031052 MONDO:0100062 True developmental and epileptic encephalopathy 106 developmental and epileptic encephalopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0031054 MONDO:0016575 True ciliary dyskinesia, primary, 48, without situs inversus primary ciliary dyskinesia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0031055 MONDO:0100062 True developmental and epileptic encephalopathy 107 developmental and epileptic encephalopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0031057 MONDO:0015780 True dyskeratosis congenita, digenic dyskeratosis congenita UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0031060 MONDO:0016660 True microcephaly 29, primary, autosomal recessive autosomal recessive primary microcephaly UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0031061 MONDO:0002350 True nephrotic syndrome, IIa 26 familial nephrotic syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0031062 MONDO:0020642 True polycystic kidney disease 7 polycystic kidney disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0031068 MONDO:0015626 True Charcot-Marie-Tooth disease, axonal, IIa 2II Charcot-Marie-Tooth disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0031071 MONDO:0015253 True Diamond-Blackfan anemia 21 Diamond-Blackfan anemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0031077 MONDO:0004983 True spermatogenic failure 76 spermatogenic failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0031083 MONDO:0004983 True spermatogenic failure 77 spermatogenic failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0031084 MONDO:0019507 True amelogenesis imperfecta, IIa 1K amelogenesis imperfecta UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0031329 MONDO:0002254 True craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0031014 MONDO:0004966 True autoimmune gastritis gastritis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0031332 MONDO:0100326 True Glanzmann thrombasthenia 1 Glanzmann thrombasthenia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0031421 MONDO:0019272 True Olmsted syndrome hereditary palmoplantar keratoderma UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0031446 MONDO:0100327 True hypercholanemia, familial 1 hypercholanemia, familial UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0031481 MONDO:0100328 True microcephaly, epilepsy, and diabetes syndrome 1 microcephaly, epilepsy, and diabetes syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0032526 MONDO:0020380 True spinocerebellar ataxia 48 autosomal dominant cerebellar ataxia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0032526 MONDO:0020380 True spinocerebellar ataxia 48 autosomal dominant cerebellar ataxia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS MONDO:0032564 MONDO:0016256 True hennekam lymphangiectasia-lymphedema syndrome 3 Hennekam syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0032567 MONDO:0000050 True isolated growth hormone deficiency, type 4 isolated congenital growth hormone deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0032570 MONDO:0018772 True Joubert syndrome 35 Joubert syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0032573 MONDO:0000159 True bone marrow failure syndrome 5 bone marrow failure syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0032575 MONDO:0000824 True diarrhea 9 congenital diarrhea UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0032577 MONDO:0019200 True retinitis pigmentosa 83 retinitis pigmentosa UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0032577 MONDO:0019200 True retinitis pigmentosa 83 retinitis pigmentosa UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS MONDO:0032578 MONDO:0000904 True cortical dysplasia, complex, with other brain malformations 9 complex cortical dysplasia with other brain malformations UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0032580 MONDO:0002350 True nephrotic syndrome, type 17 familial nephrotic syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0032581 MONDO:0002350 True nephrotic syndrome, type 18 familial nephrotic syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0032582 MONDO:0002350 True nephrotic syndrome, type 19 familial nephrotic syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0032580 MONDO:0002350 True nephrotic syndrome, type 17 familial nephrotic syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0032581 MONDO:0002350 True nephrotic syndrome, type 18 familial nephrotic syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0032582 MONDO:0002350 True nephrotic syndrome, type 19 familial nephrotic syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS MONDO:0032583 MONDO:0016660 True microcephaly 24, primary, autosomal recessive autosomal recessive primary microcephaly UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0032584 MONDO:0019287 True ectodermal dysplasia 14, hair/tooth type with or without hypohidrosis ectodermal dysplasia syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0032584 MONDO:0019287 True ectodermal dysplasia 14, hair/tooth type with or without hypohidrosis ectodermal dysplasia syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS MONDO:0032586 MONDO:0000824 True diarrhea 10, protein-losing enteropathy type congenital diarrhea UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0032588 MONDO:0020341 True periventricular nodular heterotopia 8 periventricular nodular heterotopia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0032590 MONDO:0009299 True ovarian dysgenesis 8 46 XX gonadal dysgenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0032590 MONDO:0009299 True ovarian dysgenesis 8 46 XX gonadal dysgenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS MONDO:0032591 MONDO:0016166 True hyperparathyroidism, transient neonatal hereditary hyperparathyroidism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0032592 MONDO:0016333 True cardiomyopathy, dilated, 2c familial dilated cardiomyopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0032596 MONDO:0018940 True myasthenic syndrome, congenital, 23, presynaptic congenital myasthenic syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0032597 MONDO:0018940 True myasthenic syndrome, congenital, 24, presynaptic congenital myasthenic syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0032598 MONDO:0100062 True developmental and epileptic encephalopathy, 68 developmental and epileptic encephalopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0032598 MONDO:0100062 True developmental and epileptic encephalopathy, 68 developmental and epileptic encephalopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS MONDO:0032599 MONDO:0021094 True immunodeficiency 15a immunodeficiency disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0032603 MONDO:0020927 True polydactyly, postaxial, type A9 postaxial polydactyly UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0032604 MONDO:0019200 True retinitis pigmentosa 84 retinitis pigmentosa UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0032605 MONDO:0019502 True intellectual disability, autosomal recessive 66 autosomal recessive non-syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0032606 MONDO:0100223 True mitochondrial complex 1 deficiency, nuclear type 2 mitochondrial complex I deficiency, nuclear type UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0032607 MONDO:0003847 True vertebral anomalies and variable endocrine and T-cell dysfunction hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0032608 MONDO:0100223 True mitochondrial complex 1 deficiency, nuclear type 3 mitochondrial complex I deficiency, nuclear type UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0032609 MONDO:0100223 True mitochondrial complex 1 deficiency, nuclear type 4 mitochondrial complex I deficiency, nuclear type UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0032610 MONDO:0100223 True mitochondrial complex 1 deficiency, nuclear type 5 mitochondrial complex I deficiency, nuclear type UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0032611 MONDO:0100223 True mitochondrial complex 1 deficiency, nuclear type 6 mitochondrial complex I deficiency, nuclear type UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0032612 MONDO:0100223 True mitochondrial complex 1 deficiency, nuclear type 7 mitochondrial complex I deficiency, nuclear type UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0032613 MONDO:0100223 True mitochondrial complex 1 deficiency, nuclear type 8 mitochondrial complex I deficiency, nuclear type UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0032604 MONDO:0019200 True retinitis pigmentosa 84 retinitis pigmentosa UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0032605 MONDO:0019502 True intellectual disability, autosomal recessive 66 autosomal recessive non-syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0032606 MONDO:0100223 True mitochondrial complex 1 deficiency, nuclear type 2 mitochondrial complex I deficiency, nuclear type UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0032608 MONDO:0100223 True mitochondrial complex 1 deficiency, nuclear type 3 mitochondrial complex I deficiency, nuclear type UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0032609 MONDO:0100223 True mitochondrial complex 1 deficiency, nuclear type 4 mitochondrial complex I deficiency, nuclear type UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0032610 MONDO:0100223 True mitochondrial complex 1 deficiency, nuclear type 5 mitochondrial complex I deficiency, nuclear type UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0032611 MONDO:0100223 True mitochondrial complex 1 deficiency, nuclear type 6 mitochondrial complex I deficiency, nuclear type UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0032612 MONDO:0100223 True mitochondrial complex 1 deficiency, nuclear type 7 mitochondrial complex I deficiency, nuclear type UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0032613 MONDO:0100223 True mitochondrial complex 1 deficiency, nuclear type 8 mitochondrial complex I deficiency, nuclear type UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS MONDO:0032614 MONDO:0100043 True epidermodysplasia verruciformis, susceptibility to, 2 epidermodysplasia verruciformis, susceptibility to UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0032615 MONDO:0100223 True mitochondrial complex 1 deficiency, nuclear type 9 mitochondrial complex I deficiency, nuclear type UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0032616 MONDO:0100223 True mitochondrial complex 1 deficiency, nuclear type 10 mitochondrial complex I deficiency, nuclear type UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0032617 MONDO:0100223 True mitochondrial complex 1 deficiency, nuclear type 11 mitochondrial complex I deficiency, nuclear type UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0032618 MONDO:0100223 True mitochondrial complex 1 deficiency, nuclear type 13 mitochondrial complex I deficiency, nuclear type UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0032619 MONDO:0100223 True mitochondrial complex 1 deficiency, nuclear type 14 mitochondrial complex I deficiency, nuclear type UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0032620 MONDO:0100223 True mitochondrial complex 1 deficiency, nuclear type 15 mitochondrial complex I deficiency, nuclear type UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0032621 MONDO:0100223 True mitochondrial complex 1 deficiency, nuclear type 16 mitochondrial complex I deficiency, nuclear type UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0032622 MONDO:0100223 True mitochondrial complex 1 deficiency, nuclear type 17 mitochondrial complex I deficiency, nuclear type UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0032623 MONDO:0100223 True mitochondrial complex 1 deficiency, nuclear type 18 mitochondrial complex I deficiency, nuclear type UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0032624 MONDO:0100223 True mitochondrial complex 1 deficiency, nuclear type 19 mitochondrial complex I deficiency, nuclear type UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0032625 MONDO:0100223 True mitochondrial complex 1 deficiency, nuclear type 21 mitochondrial complex I deficiency, nuclear type UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0032626 MONDO:0100223 True mitochondrial complex 1 deficiency, nuclear type 22 mitochondrial complex I deficiency, nuclear type UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0032627 MONDO:0100223 True mitochondrial complex 1 deficiency, nuclear type 23 mitochondrial complex I deficiency, nuclear type UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0032628 MONDO:0100223 True mitochondrial complex 1 deficiency, nuclear type 24 mitochondrial complex I deficiency, nuclear type UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0032629 MONDO:0100223 True mitochondrial complex 1 deficiency, nuclear type 25 mitochondrial complex I deficiency, nuclear type UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0032630 MONDO:0100223 True mitochondrial complex 1 deficiency, nuclear type 26 mitochondrial complex I deficiency, nuclear type UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0032631 MONDO:0100223 True mitochondrial complex 1 deficiency, nuclear type 27 mitochondrial complex I deficiency, nuclear type UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0032632 MONDO:0100223 True mitochondrial complex 1 deficiency, nuclear type 28 mitochondrial complex I deficiency, nuclear type UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0032633 MONDO:0100223 True mitochondrial complex 1 deficiency, nuclear type 29 mitochondrial complex I deficiency, nuclear type UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0032634 MONDO:0100223 True mitochondrial complex 1 deficiency, nuclear type 31 mitochondrial complex I deficiency, nuclear type UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0032635 MONDO:0100223 True mitochondrial complex 1 deficiency, nuclear type 32 mitochondrial complex I deficiency, nuclear type UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0032636 MONDO:0100223 True mitochondrial complex 1 deficiency, nuclear type 33 mitochondrial complex I deficiency, nuclear type UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0032637 MONDO:0016575 True ciliary dyskinesia, primary, 39 primary ciliary dyskinesia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0032639 MONDO:0019588 True hearing loss, autosomal recessive 112 hearing loss, autosomal recessive UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0032615 MONDO:0100223 True mitochondrial complex 1 deficiency, nuclear type 9 mitochondrial complex I deficiency, nuclear type UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0032616 MONDO:0100223 True mitochondrial complex 1 deficiency, nuclear type 10 mitochondrial complex I deficiency, nuclear type UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0032617 MONDO:0100223 True mitochondrial complex 1 deficiency, nuclear type 11 mitochondrial complex I deficiency, nuclear type UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0032618 MONDO:0100223 True mitochondrial complex 1 deficiency, nuclear type 13 mitochondrial complex I deficiency, nuclear type UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0032619 MONDO:0100223 True mitochondrial complex 1 deficiency, nuclear type 14 mitochondrial complex I deficiency, nuclear type UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0032620 MONDO:0100223 True mitochondrial complex 1 deficiency, nuclear type 15 mitochondrial complex I deficiency, nuclear type UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0032621 MONDO:0100223 True mitochondrial complex 1 deficiency, nuclear type 16 mitochondrial complex I deficiency, nuclear type UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0032622 MONDO:0100223 True mitochondrial complex 1 deficiency, nuclear type 17 mitochondrial complex I deficiency, nuclear type UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0032623 MONDO:0100223 True mitochondrial complex 1 deficiency, nuclear type 18 mitochondrial complex I deficiency, nuclear type UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0032624 MONDO:0100223 True mitochondrial complex 1 deficiency, nuclear type 19 mitochondrial complex I deficiency, nuclear type UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0032625 MONDO:0100223 True mitochondrial complex 1 deficiency, nuclear type 21 mitochondrial complex I deficiency, nuclear type UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0032626 MONDO:0100223 True mitochondrial complex 1 deficiency, nuclear type 22 mitochondrial complex I deficiency, nuclear type UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0032627 MONDO:0100223 True mitochondrial complex 1 deficiency, nuclear type 23 mitochondrial complex I deficiency, nuclear type UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0032628 MONDO:0100223 True mitochondrial complex 1 deficiency, nuclear type 24 mitochondrial complex I deficiency, nuclear type UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0032629 MONDO:0100223 True mitochondrial complex 1 deficiency, nuclear type 25 mitochondrial complex I deficiency, nuclear type UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0032630 MONDO:0100223 True mitochondrial complex 1 deficiency, nuclear type 26 mitochondrial complex I deficiency, nuclear type UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0032631 MONDO:0100223 True mitochondrial complex 1 deficiency, nuclear type 27 mitochondrial complex I deficiency, nuclear type UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0032632 MONDO:0100223 True mitochondrial complex 1 deficiency, nuclear type 28 mitochondrial complex I deficiency, nuclear type UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0032633 MONDO:0100223 True mitochondrial complex 1 deficiency, nuclear type 29 mitochondrial complex I deficiency, nuclear type UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0032634 MONDO:0100223 True mitochondrial complex 1 deficiency, nuclear type 31 mitochondrial complex I deficiency, nuclear type UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0032635 MONDO:0100223 True mitochondrial complex 1 deficiency, nuclear type 32 mitochondrial complex I deficiency, nuclear type UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0032636 MONDO:0100223 True mitochondrial complex 1 deficiency, nuclear type 33 mitochondrial complex I deficiency, nuclear type UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0032637 MONDO:0016575 True ciliary dyskinesia, primary, 39 primary ciliary dyskinesia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0032639 MONDO:0019588 True hearing loss, autosomal recessive 112 hearing loss, autosomal recessive UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS MONDO:0032641 MONDO:0016558 True mirror movements 4 familial congenital mirror movements UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0032643 MONDO:0020135 True pontocerebellar hypoplasia, type 12 pontocerebellar hypoplasia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0032643 MONDO:0020135 True pontocerebellar hypoplasia, type 12 pontocerebellar hypoplasia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS MONDO:0032644 MONDO:0100043 True epidermodysplasia verruciformis, susceptibility to, 3 epidermodysplasia verruciformis, susceptibility to UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0032646 MONDO:0019719 True congenital anomalies of kidney and urinary tract 3 congenital anomaly of kidney and urinary tract UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0032648 MONDO:0003847 True mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0032649 MONDO:0003037 True hypotrichosis 14 hypotrichosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0032654 MONDO:0018037 True hyper-IgE recurrent infection syndrome 3, autosomal recessive hyper-IgE syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0032655 MONDO:0003847 True visual impairment and progressive phthisis bulbi hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0032657 MONDO:0100062 True developmental and epileptic encephalopathy, 69 developmental and epileptic encephalopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0032660 MONDO:0018190 True spinal muscular atrophy, lower extremity-predominant, 2b, prenatal onset, autosomal dominant autosomal dominant childhood-onset proximal spinal muscular atrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0032662 MONDO:0019502 True intellectual developmental disorder, autosomal recessive 67 autosomal recessive non-syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0032663 MONDO:0100062 True developmental and epileptic encephalopathy, 70 developmental and epileptic encephalopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0032664 MONDO:0016575 True ciliary dyskinesia, primary, 40 primary ciliary dyskinesia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0032665 MONDO:0019502 True intellectual developmental disorder, autosomal recessive 68 autosomal recessive non-syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0032649 MONDO:0003037 True hypotrichosis 14 hypotrichosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0032654 MONDO:0018037 True hyper-IgE recurrent infection syndrome 3, autosomal recessive hyper-IgE syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0032657 MONDO:0100062 True developmental and epileptic encephalopathy, 69 developmental and epileptic encephalopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0032660 MONDO:0018190 True spinal muscular atrophy, lower extremity-predominant, 2b, prenatal onset, autosomal dominant autosomal dominant childhood-onset proximal spinal muscular atrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0032662 MONDO:0019502 True intellectual developmental disorder, autosomal recessive 67 autosomal recessive non-syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0032663 MONDO:0100062 True developmental and epileptic encephalopathy, 70 developmental and epileptic encephalopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0032664 MONDO:0016575 True ciliary dyskinesia, primary, 40 primary ciliary dyskinesia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0032665 MONDO:0019502 True intellectual developmental disorder, autosomal recessive 68 autosomal recessive non-syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS MONDO:0032666 MONDO:0100043 True epidermodysplasia verruciformis, susceptibility to, 4 epidermodysplasia verruciformis, susceptibility to UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0032667 MONDO:0100043 True epidermodysplasia verruciformis, susceptibility to, 5 epidermodysplasia verruciformis, susceptibility to UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0032668 MONDO:0015253 True Diamond-Blackfan anemia 18 Diamond-Blackfan anemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0032669 MONDO:0015253 True Diamond-Blackfan anemia 19 Diamond-Blackfan anemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0032670 MONDO:0015253 True Diamond-Blackfan anemia 20 Diamond-Blackfan anemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0032668 MONDO:0015253 True Diamond-Blackfan anemia 18 Diamond-Blackfan anemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0032669 MONDO:0015253 True Diamond-Blackfan anemia 19 Diamond-Blackfan anemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0032670 MONDO:0015253 True Diamond-Blackfan anemia 20 Diamond-Blackfan anemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS MONDO:0032673 MONDO:0008947 True basal ganglia calcification, idiopathic, 7, autosomal recessive bilateral striopallidodentate calcinosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0032675 MONDO:0018940 True myasthenic syndrome, congenital, 25, presynaptic congenital myasthenic syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0032678 MONDO:0100062 True developmental and epileptic encephalopathy, 71 developmental and epileptic encephalopathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0032679 MONDO:0000732 True combined oxidative phosphorylation deficiency 37 combined oxidative phosphorylation deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0032686 MONDO:0004983 True spermatogenic failure 35 spermatogenic failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0032687 MONDO:0003847 True intellectual developmental disorder with abnormal behavior, microcephaly, and short stature hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0032689 MONDO:0019200 True retinitis pigmentosa 85 retinitis pigmentosa UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0032678 MONDO:0100062 True developmental and epileptic encephalopathy, 71 developmental and epileptic encephalopathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0032679 MONDO:0000732 True combined oxidative phosphorylation deficiency 37 combined oxidative phosphorylation deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0032686 MONDO:0004983 True spermatogenic failure 35 spermatogenic failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0032689 MONDO:0019200 True retinitis pigmentosa 85 retinitis pigmentosa UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS MONDO:0032691 MONDO:0009627 True Galloway-Mowat syndrome 6 Galloway-Mowat syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0032692 MONDO:0009627 True Galloway-Mowat syndrome 7 Galloway-Mowat syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0032693 MONDO:0009627 True Galloway-Mowat syndrome 8 Galloway-Mowat syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0032694 MONDO:0016660 True microcephaly 25, primary, autosomal recessive autosomal recessive primary microcephaly UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0032696 MONDO:0014769 True oocyte maturation defect 6 inherited oocyte maturation defect UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0032702 MONDO:0015452 True Coffin-Siris syndrome 8 Coffin-Siris syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0032705 MONDO:0017313 True neurodevelopmental disorder with microcephaly, epilepsy, and hypomyelination disorder of folate metabolism and transport UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0032705 MONDO:0019046 True neurodevelopmental disorder with microcephaly, epilepsy, and hypomyelination leukodystrophy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING -MONDO:0032706 MONDO:0015244 True spinocerebellar ataxia, autosomal recessive 27 autosomal recessive cerebellar ataxia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0032710 MONDO:0100062 True developmental and epileptic encephalopathy, 72 developmental and epileptic encephalopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0032712 MONDO:0000732 True combined oxidative phosphorylation deficiency 38 combined oxidative phosphorylation deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0032715 MONDO:0019502 True intellectual developmental disorder, autosomal recessive 69 autosomal recessive non-syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0032717 MONDO:0019507 True amelogenesis imperfecta, type 3c amelogenesis imperfecta UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0032721 MONDO:0016761 True spondyloepiphyseal dysplasia, kondo-fu type spondyloepiphyseal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0032702 MONDO:0015452 True Coffin-Siris syndrome 8 Coffin-Siris syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0032706 MONDO:0015244 True spinocerebellar ataxia, autosomal recessive 27 autosomal recessive cerebellar ataxia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0032710 MONDO:0100062 True developmental and epileptic encephalopathy, 72 developmental and epileptic encephalopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0032712 MONDO:0000732 True combined oxidative phosphorylation deficiency 38 combined oxidative phosphorylation deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0032715 MONDO:0019502 True intellectual developmental disorder, autosomal recessive 69 autosomal recessive non-syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0032717 MONDO:0019507 True amelogenesis imperfecta, type 3c amelogenesis imperfecta UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS MONDO:0032723 MONDO:0021094 True immunodeficiency 60 immunodeficiency disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0032724 MONDO:0006025 True spondyloepimetaphyseal dysplasia with joint laxity, type 3 autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0032724 MONDO:0019675 True spondyloepimetaphyseal dysplasia with joint laxity, type 3 spondyloepimetaphyseal dysplasia with joint laxity UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0032725 MONDO:0100062 True developmental and epileptic encephalopathy, 74 developmental and epileptic encephalopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0032726 MONDO:0000732 True combined oxidative phosphorylation deficiency 39 combined oxidative phosphorylation deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0032728 MONDO:0018993 True Charcot-Marie-Tooth disease, axonal, type 2EE Charcot-Marie-Tooth disease type 2 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0032729 MONDO:0019502 True intellectual developmental disorder, autosomal recessive 70 autosomal recessive non-syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0032730 MONDO:0019046 True leukodystrophy, hypomyelinating, 18 leukodystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0032732 MONDO:0019588 True hearing loss, autosomal recessive 113 hearing loss, autosomal recessive UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0032735 MONDO:0005129 True cataract 48 cataract UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0032737 MONDO:0019064 True spastic paraplegia 80, autosomal dominant hereditary spastic paraplegia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED -MONDO:0032739 MONDO:0004983 True spermatogenic failure 36 spermatogenic failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0032740 MONDO:0019588 True hearing loss, autosomal recessive 100 hearing loss, autosomal recessive UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0032744 MONDO:0004983 True spermatogenic failure 37 spermatogenic failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0032724 MONDO:0019675 True spondyloepimetaphyseal dysplasia with joint laxity, type 3 spondyloepimetaphyseal dysplasia with joint laxity UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0032725 MONDO:0100062 True developmental and epileptic encephalopathy, 74 developmental and epileptic encephalopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0032726 MONDO:0000732 True combined oxidative phosphorylation deficiency 39 combined oxidative phosphorylation deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0032729 MONDO:0019502 True intellectual developmental disorder, autosomal recessive 70 autosomal recessive non-syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0032730 MONDO:0019046 True leukodystrophy, hypomyelinating, 18 leukodystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0032732 MONDO:0019588 True hearing loss, autosomal recessive 113 hearing loss, autosomal recessive UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0032735 MONDO:0005129 True cataract 48 cataract UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0032739 MONDO:0004983 True spermatogenic failure 36 spermatogenic failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0032740 MONDO:0019588 True hearing loss, autosomal recessive 100 hearing loss, autosomal recessive UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0032744 MONDO:0004983 True spermatogenic failure 37 spermatogenic failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS MONDO:0032746 MONDO:0006248 True hydatidiform mole, recurrent, 3 hydatidiform mole UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0032747 MONDO:0006248 True hydatidiform mole, recurrent, 4 hydatidiform mole UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0032748 MONDO:0004983 True spermatogenic failure 38 spermatogenic failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0032749 MONDO:0019588 True hearing loss, autosomal recessive 94 hearing loss, autosomal recessive UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0032750 MONDO:0000426 True arthrogryposis, distal, type 2B2 autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0032750 MONDO:0011128 True arthrogryposis, distal, type 2B2 Sheldon-hall syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0032751 MONDO:0000426 True arthrogryposis, distal, type 2B3 autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0032751 MONDO:0011128 True arthrogryposis, distal, type 2B3 Sheldon-hall syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0032752 MONDO:0100062 True developmental and epileptic encephalopathy, 75 developmental and epileptic encephalopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0032748 MONDO:0004983 True spermatogenic failure 38 spermatogenic failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0032749 MONDO:0019588 True hearing loss, autosomal recessive 94 hearing loss, autosomal recessive UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0032752 MONDO:0100062 True developmental and epileptic encephalopathy, 75 developmental and epileptic encephalopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS MONDO:0032753 MONDO:0017845 True spastic ataxia 9, autosomal recessive spastic ataxia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0032756 MONDO:0019171 True long qt syndrome 8 familial long QT syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0032757 MONDO:0016575 True ciliary dyskinesia, primary, 41 primary ciliary dyskinesia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0032761 MONDO:0019588 True hearing loss, autosomal recessive 114 hearing loss, autosomal recessive UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0032762 MONDO:0019588 True hearing loss, autosomal recessive 115 hearing loss, autosomal recessive UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0032757 MONDO:0016575 True ciliary dyskinesia, primary, 41 primary ciliary dyskinesia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0032761 MONDO:0019588 True hearing loss, autosomal recessive 114 hearing loss, autosomal recessive UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0032762 MONDO:0019588 True hearing loss, autosomal recessive 115 hearing loss, autosomal recessive UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS MONDO:0032763 MONDO:0021094 True immunodeficiency 62 immunodeficiency disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0032765 MONDO:0000009 True bleeding disorder, platelet-type, 22 inherited bleeding disorder, platelet-type UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0032766 MONDO:0003847 True hypoalphalipoproteinemia, primary, 2 hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0032767 MONDO:0000448 True paragangliomas 6 paraganglioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0032768 MONDO:0100062 True developmental and epileptic encephalopathy, 76 developmental and epileptic encephalopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0032768 MONDO:0100062 True developmental and epileptic encephalopathy, 76 developmental and epileptic encephalopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS MONDO:0032771 MONDO:0000448 True paragangliomas 7 paraganglioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0032776 MONDO:0019588 True hearing loss, autosomal recessive 99 hearing loss, autosomal recessive UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0032777 MONDO:0018214 True generalized epilepsy with febrile seizures plus, type 10 generalized epilepsy with febrile seizures plus UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0032778 MONDO:0015168 True arthrogryposis multiplex congenita 3, myogenic type arthrogryposis multiplex congenita UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0032776 MONDO:0019588 True hearing loss, autosomal recessive 99 hearing loss, autosomal recessive UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0032777 MONDO:0018214 True generalized epilepsy with febrile seizures plus, type 10 generalized epilepsy with febrile seizures plus UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0032778 MONDO:0015168 True arthrogryposis multiplex congenita 3, myogenic type arthrogryposis multiplex congenita UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS MONDO:0032782 MONDO:0021094 True immunodeficiency 63 with lymphoproliferation and autoimmunity immunodeficiency disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0032783 MONDO:0007194 True aortic valve disease 3 familial bicuspid aortic valve UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0032783 MONDO:0007194 True aortic valve disease 3 familial bicuspid aortic valve UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS MONDO:0032785 MONDO:0020927 True polydactyly, postaxial, type a10 postaxial polydactyly UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0032786 MONDO:0018997 True Noonan syndrome 11 Noonan syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0032786 MONDO:0018997 True Noonan syndrome 11 Noonan syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS MONDO:0032787 MONDO:0016296 True holoprosencephaly 12 with or without pancreatic agenesis holoprosencephaly UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0032789 MONDO:0019502 True intellectual developmental disorder, autosomal recessive 71 autosomal recessive non-syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0032791 MONDO:0015452 True Coffin-Siris syndrome 10 Coffin-Siris syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0032794 MONDO:0018998 True leber congenital amaurosis 19 Leber congenital amaurosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0032796 MONDO:0018037 True hyper-IgE recurrent infection syndrome 4, autosomal recessive hyper-IgE syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0032797 MONDO:0019952 True myopathy, congenital, with tremor congenital myopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0032789 MONDO:0019502 True intellectual developmental disorder, autosomal recessive 71 autosomal recessive non-syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0032791 MONDO:0015452 True Coffin-Siris syndrome 10 Coffin-Siris syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0032794 MONDO:0018998 True leber congenital amaurosis 19 Leber congenital amaurosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0032796 MONDO:0018037 True hyper-IgE recurrent infection syndrome 4, autosomal recessive hyper-IgE syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS MONDO:0032799 MONDO:0018158 True mitochondrial DNA depletion syndrome 16 (hepatic type) mitochondrial DNA depletion syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0032800 MONDO:0019978 True robinow syndrome, autosomal recessive 2 Robinow syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0032801 MONDO:0017851 True erythrokeratodermia variabilis et progressiva 6 erythrokeratodermia variabilis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0032801 MONDO:0017851 True erythrokeratodermia variabilis et progressiva 6 erythrokeratodermia variabilis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS MONDO:0032802 MONDO:0019587 True hearing loss, autosomal dominant 37 autosomal dominant nonsyndromic hearing loss UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0032803 MONDO:0021094 True immunodeficiency 64 immunodeficiency disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0032804 MONDO:0019287 True ectodermal dysplasia 15, hypohidrotic/hair type ectodermal dysplasia syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0032806 MONDO:0018053 True trichothiodystrophy 7, nonphotosensitive trichothiodystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0032808 MONDO:0002525 True developmental and epileptic encephalopathy, 77 inherited lipid metabolism disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0032804 MONDO:0019287 True ectodermal dysplasia 15, hypohidrotic/hair type ectodermal dysplasia syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0032806 MONDO:0018053 True trichothiodystrophy 7, nonphotosensitive trichothiodystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS MONDO:0032808 MONDO:0100062 True developmental and epileptic encephalopathy, 77 developmental and epileptic encephalopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0032808 MONDO:0100247 True developmental and epileptic encephalopathy, 77 multiple congenital anomalies-hypotonia-seizures syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0032808 MONDO:0100247 True developmental and epileptic encephalopathy, 77 multiple congenital anomalies-hypotonia-seizures syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS MONDO:0032810 MONDO:0014769 True oocyte maturation defect 7 inherited oocyte maturation defect UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0032811 MONDO:0016293 True night blindness, congenital stationary, type1i congenital stationary night blindness UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0032812 MONDO:0100062 True developmental and epileptic encephalopathy, 78 developmental and epileptic encephalopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0032813 MONDO:0100062 True developmental and epileptic encephalopathy, 79 developmental and epileptic encephalopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0032812 MONDO:0100062 True developmental and epileptic encephalopathy, 78 developmental and epileptic encephalopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0032813 MONDO:0100062 True developmental and epileptic encephalopathy, 79 developmental and epileptic encephalopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS MONDO:0032815 MONDO:0018158 True mitochondrial DNA depletion syndrome 17 mitochondrial DNA depletion syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0032819 MONDO:0000045 True hypothyroidism, congenital, nongoitrous, 7 hypothyroidism, congenital, nongoitrous UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0032819 MONDO:0016410 True hypothyroidism, congenital, nongoitrous, 7 central congenital hypothyroidism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0032821 MONDO:0019952 True myopathy, congenital, progressive, with scoliosis congenital myopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0032822 MONDO:0100062 True developmental and epileptic encephalopathy, 80 developmental and epileptic encephalopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0032826 MONDO:0002350 True nephrotic syndrome, type 21 familial nephrotic syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0032831 MONDO:0020135 True pontocerebellar hypoplasia, type 13 pontocerebellar hypoplasia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0032834 MONDO:0019200 True retinitis pigmentosa 86 retinitis pigmentosa UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0032835 MONDO:0016761 True spondyloepiphyseal dysplasia, nishimura type spondyloepiphyseal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0032837 MONDO:0000816 True abdominal obesity-metabolic syndrome 4 abdominal obesity-metabolic syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0032839 MONDO:0018997 True noonan syndrome 12 Noonan syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0032842 MONDO:0003847 True Siddiqi syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0032822 MONDO:0100062 True developmental and epileptic encephalopathy, 80 developmental and epileptic encephalopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0032826 MONDO:0002350 True nephrotic syndrome, type 21 familial nephrotic syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0032831 MONDO:0020135 True pontocerebellar hypoplasia, type 13 pontocerebellar hypoplasia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0032834 MONDO:0019200 True retinitis pigmentosa 86 retinitis pigmentosa UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0032837 MONDO:0000816 True abdominal obesity-metabolic syndrome 4 abdominal obesity-metabolic syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0032839 MONDO:0018997 True noonan syndrome 12 Noonan syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS MONDO:0032844 MONDO:0000023 True infantile liver failure syndrome 3 infantile liver failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0032845 MONDO:0004983 True spermatogenic failure 39 spermatogenic failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0032846 MONDO:0019019 True osteogenesis imperfecta, type 20 osteogenesis imperfecta UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0032845 MONDO:0004983 True spermatogenic failure 39 spermatogenic failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0032846 MONDO:0019019 True osteogenesis imperfecta, type 20 osteogenesis imperfecta UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS MONDO:0032848 MONDO:0021094 True immunodeficiency 65, susceptibility to viral infections immunodeficiency disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0032850 MONDO:0003847 True neurooculocardiogenitourinary syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0032852 MONDO:0019952 True myopathy, congenital, with structured cores and z-line abnormalities congenital myopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED MONDO:0032854 MONDO:0000200 True zimmermann-laband syndrome 3 Zimmermann-Laband syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0032857 MONDO:0000824 True diarrhea 11, malabsorptive, congenital congenital diarrhea UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0032858 MONDO:0100062 True developmental and epileptic encephalopathy, 81 developmental and epileptic encephalopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0032859 MONDO:0004983 True spermatogenic failure 40 spermatogenic failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0032860 MONDO:0019502 True intellectual developmental disorder, autosomal recessive 72 autosomal recessive non-syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0032863 MONDO:0004983 True spermatogenic failure 41 spermatogenic failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0032858 MONDO:0100062 True developmental and epileptic encephalopathy, 81 developmental and epileptic encephalopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0032859 MONDO:0004983 True spermatogenic failure 40 spermatogenic failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0032860 MONDO:0019502 True intellectual developmental disorder, autosomal recessive 72 autosomal recessive non-syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0032863 MONDO:0004983 True spermatogenic failure 41 spermatogenic failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS MONDO:0032865 MONDO:0000148 True pulmonary fibrosis and/or bone marrow failure, telomere-related, 5 pulmonary fibrosis and/or bone marrow failure, telomere-related UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0032866 MONDO:0000904 True cortical dysplasia, complex, with other brain malformations 10 complex cortical dysplasia with other brain malformations UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0032869 MONDO:0014471 True mitochondrial complex 5 (ATP synthase) deficiency, nuclear type 6 mitochondrial proton-transporting ATP synthase complex deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0032870 MONDO:0003847 True intellectual developmental disorder with short stature and behavioral abnormalities hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0032871 MONDO:0019046 True leukodystrophy, hypomyelinating, 19, transient infantile leukodystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0032872 MONDO:0016575 True ciliary dyskinesia, primary, 42 primary ciliary dyskinesia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0032869 MONDO:0014471 True mitochondrial complex 5 (ATP synthase) deficiency, nuclear type 6 mitochondrial proton-transporting ATP synthase complex deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0032871 MONDO:0019046 True leukodystrophy, hypomyelinating, 19, transient infantile leukodystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0032872 MONDO:0016575 True ciliary dyskinesia, primary, 42 primary ciliary dyskinesia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS MONDO:0032873 MONDO:0019200 True retinitis pigmentosa 87 with choroidal involvement retinitis pigmentosa UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0032874 MONDO:0016575 True ciliary dyskinesia, primary, 43 primary ciliary dyskinesia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0032879 MONDO:0003847 True megabladder, congenital hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0032880 MONDO:0100062 True developmental and epileptic encephalopathy, 82 developmental and epileptic encephalopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0032874 MONDO:0016575 True ciliary dyskinesia, primary, 43 primary ciliary dyskinesia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0032880 MONDO:0100062 True developmental and epileptic encephalopathy, 82 developmental and epileptic encephalopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS MONDO:0032881 MONDO:0019852 True premature ovarian failure 16 inherited primary ovarian failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0032891 MONDO:0016483 True aneurysm, intracranial berry, 12 intracranial berry aneurysm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0032895 MONDO:0100062 True developmental and epileptic encephalopathy, 83 developmental and epileptic encephalopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0032896 MONDO:0004983 True spermatogenic failure 42 spermatogenic failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0032898 MONDO:0004983 True spermatogenic failure 43 spermatogenic failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0032899 MONDO:0018542 True neutropenia, severe congenital, 8, autosomal dominant severe congenital neutropenia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0032891 MONDO:0016483 True aneurysm, intracranial berry, 12 intracranial berry aneurysm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0032895 MONDO:0100062 True developmental and epileptic encephalopathy, 83 developmental and epileptic encephalopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0032896 MONDO:0004983 True spermatogenic failure 42 spermatogenic failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0032898 MONDO:0004983 True spermatogenic failure 43 spermatogenic failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0032899 MONDO:0018542 True neutropenia, severe congenital, 8, autosomal dominant severe congenital neutropenia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS MONDO:0032902 MONDO:0018772 True Joubert syndrome 36 Joubert syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0032903 MONDO:0015168 True arthrogryposis multiplex congenita 4, neurogenic, with agenesis of the corpus callosum arthrogryposis multiplex congenita UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0032904 MONDO:0007379 True corneal dystrophy, Meesmann, 2 Meesmann corneal dystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0032903 MONDO:0015168 True arthrogryposis multiplex congenita 4, neurogenic, with agenesis of the corpus callosum arthrogryposis multiplex congenita UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0032904 MONDO:0007379 True corneal dystrophy, Meesmann, 2 Meesmann corneal dystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS MONDO:0032905 MONDO:0019064 True spastic paraplegia 81, autosomal recessive hereditary spastic paraplegia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0032906 MONDO:0019064 True spastic paraplegia 82, autosomal recessive hereditary spastic paraplegia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0032906 MONDO:0019064 True spastic paraplegia 82, autosomal recessive hereditary spastic paraplegia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS MONDO:0032907 MONDO:0019313 True lymphatic malformation 8 lymphatic malformation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0032909 MONDO:0020811 True mitochondrial complex 3 deficiency, nuclear type 10 mitochondrial complex III deficiency, nuclear type UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0032910 MONDO:0100223 True mitochondrial complex 1 deficiency, nuclear type 34 mitochondrial complex I deficiency, nuclear type UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0032911 MONDO:0019587 True hearing loss, autosomal dominant 75 autosomal dominant nonsyndromic hearing loss UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0032912 MONDO:0015452 True Coffin-Siris syndrome 11 Coffin-Siris syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0032914 MONDO:0016575 True ciliary dyskinesia, primary, 44 primary ciliary dyskinesia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0032910 MONDO:0100223 True mitochondrial complex 1 deficiency, nuclear type 34 mitochondrial complex I deficiency, nuclear type UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0032911 MONDO:0019587 True hearing loss, autosomal dominant 75 autosomal dominant nonsyndromic hearing loss UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0032912 MONDO:0015452 True Coffin-Siris syndrome 11 Coffin-Siris syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0032914 MONDO:0016575 True ciliary dyskinesia, primary, 44 primary ciliary dyskinesia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS MONDO:0032915 MONDO:0017990 True long QT syndrome 16 catecholaminergic polymorphic ventricular tachycardia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0032915 MONDO:0019171 True long QT syndrome 16 familial long QT syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0032917 MONDO:0019587 True hearing loss, autosomal dominant 76 autosomal dominant nonsyndromic hearing loss UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0032918 MONDO:0100062 True developmental and epileptic encephalopathy, 84 developmental and epileptic encephalopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0032923 MONDO:0015244 True spinocerebellar ataxia, autosomal recessive 28 autosomal recessive cerebellar ataxia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0032924 MONDO:0016575 True ciliary dyskinesia, primary, 45 primary ciliary dyskinesia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0032926 MONDO:0003847 True sandestig-stefanova syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0032917 MONDO:0019587 True hearing loss, autosomal dominant 76 autosomal dominant nonsyndromic hearing loss UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0032918 MONDO:0100062 True developmental and epileptic encephalopathy, 84 developmental and epileptic encephalopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0032923 MONDO:0015244 True spinocerebellar ataxia, autosomal recessive 28 autosomal recessive cerebellar ataxia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0032924 MONDO:0016575 True ciliary dyskinesia, primary, 45 primary ciliary dyskinesia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS MONDO:0032932 MONDO:0018158 True mitochondrial DNA depletion syndrome 18 mitochondrial DNA depletion syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0032936 MONDO:0019952 True myopathy, congenital, with respiratory insufficiency and bone fractures congenital myopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0032937 MONDO:0019952 True myopathy, congenital proximal, with minicore lesions congenital myopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED MONDO:0032938 MONDO:0008947 True basal ganglia calcification, idiopathic, 8, autosomal recessive bilateral striopallidodentate calcinosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0032940 MONDO:0019200 True retinitis pigmentosa 88 retinitis pigmentosa UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0032940 MONDO:0019200 True retinitis pigmentosa 88 retinitis pigmentosa UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS MONDO:0032941 MONDO:0001384 True myopia 27 myopia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0033004 MONDO:0009889 True polycystic kidney disease 4 autosomal recessive polycystic kidney disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0033005 MONDO:0009627 True Galloway-Mowat syndrome 1 Galloway-Mowat syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0033006 MONDO:0009627 True Galloway-Mowat syndrome 2, X-linked Galloway-Mowat syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0033007 MONDO:0009627 True Galloway-Mowat syndrome 3 Galloway-Mowat syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0033008 MONDO:0009627 True Galloway-Mowat syndrome 4 Galloway-Mowat syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0033009 MONDO:0009627 True Galloway-Mowat syndrome 5 Galloway-Mowat syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0033010 MONDO:0017851 True erythrokeratodermia variabilis et progressiva 1 erythrokeratodermia variabilis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0033012 MONDO:0017851 True erythrokeratodermia variabilis et progressiva 2 erythrokeratodermia variabilis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0033013 MONDO:0017851 True erythrokeratodermia variabilis et progressiva 3 erythrokeratodermia variabilis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0033014 MONDO:0017851 True erythrokeratodermia variabilis et progressiva 4 erythrokeratodermia variabilis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0033015 MONDO:0017851 True erythrokeratodermia variabilis et progressiva 5 erythrokeratodermia variabilis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0033043 MONDO:0017847 True spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy autosomal recessive spastic ataxia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0033043 MONDO:0019046 True spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy leukodystrophy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS -MONDO:0033044 MONDO:0018921 True Meckel syndrome 13 Meckel syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0033045 MONDO:0015375 True orofaciodigital syndrome 16 orofaciodigital syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0033046 MONDO:0016817 True Meier-Gorlin syndrome 8 Meier-Gorlin syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0033047 MONDO:0017312 True Perrault syndrome 6 Perrault syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0033091 MONDO:0017265 True ichthyosis, congenital, autosomal recessive 14 autosomal recessive congenital ichthyosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0033092 MONDO:0017265 True ichthyosis, congenital, autosomal recessive 13 autosomal recessive congenital ichthyosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0033115 MONDO:0015244 True spinocerebellar ataxia, autosomal recessive 25 autosomal recessive cerebellar ataxia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0033116 MONDO:0015244 True spinocerebellar ataxia, autosomal recessive 26 autosomal recessive cerebellar ataxia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0033123 MONDO:0019516 True exudative vitreoretinopathy 7 exudative vitreoretinopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0033135 MONDO:0000426 True Charcot-Marie-Tooth disease, demyelinating, type 1G autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0033135 MONDO:0015626 True Charcot-Marie-Tooth disease, demyelinating, type 1G Charcot-Marie-Tooth disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0033198 MONDO:0019588 True hearing loss, autosomal recessive 106 hearing loss, autosomal recessive UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0033199 MONDO:0019588 True hearing loss, autosomal recessive 107 hearing loss, autosomal recessive UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0033200 MONDO:0019588 True hearing loss, autosomal recessive 108 hearing loss, autosomal recessive UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0033201 MONDO:0019588 True hearing loss, autosomal recessive 57 hearing loss, autosomal recessive UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0033202 MONDO:0019588 True hearing loss, autosomal recessive 109 hearing loss, autosomal recessive UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0033203 MONDO:0002350 True nephrotic syndrome 14 familial nephrotic syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0033203 MONDO:0018117 True nephrotic syndrome 14 disorder of phospholipids, sphingolipids and fatty acids biosynthesis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0033204 MONDO:0016575 True ciliary dyskinesia, primary, 37 primary ciliary dyskinesia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0033258 MONDO:0019587 True hearing loss, autosomal dominant 71 autosomal dominant nonsyndromic hearing loss UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0033259 MONDO:0019587 True hearing loss, autosomal dominant 72 autosomal dominant nonsyndromic hearing loss UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0033260 MONDO:0019587 True hearing loss, autosomal dominant 73 autosomal dominant nonsyndromic hearing loss UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0033261 MONDO:0019587 True hearing loss, autosomal dominant 34, with or without inflammation autosomal dominant nonsyndromic hearing loss UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0033262 MONDO:0002350 True nephrotic syndrome 15 familial nephrotic syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0033280 MONDO:0002350 True nephrotic syndrome 16 familial nephrotic syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0033281 MONDO:0009889 True polycystic kidney disease 5 autosomal recessive polycystic kidney disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0033282 MONDO:0017338 True multiple mitochondrial dysfunctions syndrome 5 fatal multiple mitochondrial dysfunctions syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0033304 MONDO:0000428 True nonsyndromic deafness, Y-linked Y-linked disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0033304 MONDO:0019497 True nonsyndromic deafness, Y-linked nonsyndromic genetic hearing loss UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0033308 MONDO:0018772 True Joubert syndrome 30 Joubert syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0033309 MONDO:0018772 True Joubert syndrome 32 Joubert syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0033310 MONDO:0018772 True Joubert syndrome 31 Joubert syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0033311 MONDO:0018772 True Joubert syndrome 33 Joubert syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0033312 MONDO:0005090 True schizophrenia 19 schizophrenia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED -MONDO:0033361 MONDO:0100062 True developmental and epileptic encephalopathy, 52 developmental and epileptic encephalopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0033362 MONDO:0100062 True developmental and epileptic encephalopathy, 53 developmental and epileptic encephalopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0033363 MONDO:0100062 True developmental and epileptic encephalopathy, 54 developmental and epileptic encephalopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0033364 MONDO:0100062 True developmental and epileptic encephalopathy, 55 developmental and epileptic encephalopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0033365 MONDO:0100062 True developmental and epileptic encephalopathy, 56 developmental and epileptic encephalopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0033366 MONDO:0100062 True developmental and epileptic encephalopathy, 57 developmental and epileptic encephalopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0033367 MONDO:0100062 True developmental and epileptic encephalopathy, 58 developmental and epileptic encephalopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0033368 MONDO:0100062 True developmental and epileptic encephalopathy, 59 developmental and epileptic encephalopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0033369 MONDO:0100062 True developmental and epileptic encephalopathy, 60 developmental and epileptic encephalopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0033370 MONDO:0100062 True developmental and epileptic encephalopathy, 61 developmental and epileptic encephalopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0033371 MONDO:0100062 True developmental and epileptic encephalopathy, 62 developmental and epileptic encephalopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0033372 MONDO:0100062 True developmental and epileptic encephalopathy, 63 developmental and epileptic encephalopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0033373 MONDO:0100062 True developmental and epileptic encephalopathy, 64 developmental and epileptic encephalopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0033374 MONDO:0100062 True developmental and epileptic encephalopathy, 65 developmental and epileptic encephalopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0033375 MONDO:0015375 True orofaciodigital syndrome 17 orofaciodigital syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0033479 MONDO:0020380 True spinocerebellar ataxia 44 autosomal dominant cerebellar ataxia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0033480 MONDO:0019793 True spinocerebellar ataxia 45 autosomal dominant cerebellar ataxia type III UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0033481 MONDO:0019792 True spinocerebellar ataxia 46 autosomal dominant cerebellar ataxia type I UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0033482 MONDO:0020380 True spinocerebellar ataxia 47 autosomal dominant cerebellar ataxia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0033483 MONDO:0001115 True erythrocytosis, familial, 5 familial polycythemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0033485 MONDO:0018770 True short-rib thoracic dysplasia 19 with or without polydactyly Jeune syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0033486 MONDO:0019046 True leukodystrophy, hypomyelinating, 14 leukodystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0033492 MONDO:0015802 True Coffin-Siris syndrome 6 autosomal dominant non-syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0033493 MONDO:0016070 True fibromatosis, gingival, 5 hereditary gingival fibromatosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0033533 MONDO:0000732 True combined oxidative phosphorylation deficiency 45 combined oxidative phosphorylation deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0033534 MONDO:0000732 True combined oxidative phosphorylation deficiency 46 combined oxidative phosphorylation deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0033537 MONDO:0000732 True combined oxidative phosphorylation deficiency 47 combined oxidative phosphorylation deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0033005 MONDO:0009627 True Galloway-Mowat syndrome 1 Galloway-Mowat syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0033006 MONDO:0009627 True Galloway-Mowat syndrome 2, X-linked Galloway-Mowat syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0033007 MONDO:0009627 True Galloway-Mowat syndrome 3 Galloway-Mowat syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0033008 MONDO:0009627 True Galloway-Mowat syndrome 4 Galloway-Mowat syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0033009 MONDO:0009627 True Galloway-Mowat syndrome 5 Galloway-Mowat syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0033010 MONDO:0017851 True erythrokeratodermia variabilis et progressiva 1 erythrokeratodermia variabilis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0033012 MONDO:0017851 True erythrokeratodermia variabilis et progressiva 2 erythrokeratodermia variabilis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0033013 MONDO:0017851 True erythrokeratodermia variabilis et progressiva 3 erythrokeratodermia variabilis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0033014 MONDO:0017851 True erythrokeratodermia variabilis et progressiva 4 erythrokeratodermia variabilis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0033015 MONDO:0017851 True erythrokeratodermia variabilis et progressiva 5 erythrokeratodermia variabilis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0033044 MONDO:0018921 True Meckel syndrome 13 Meckel syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0033045 MONDO:0015375 True orofaciodigital syndrome 16 orofaciodigital syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0033046 MONDO:0016817 True Meier-Gorlin syndrome 8 Meier-Gorlin syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0033047 MONDO:0017312 True Perrault syndrome 6 Perrault syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0033091 MONDO:0017265 True ichthyosis, congenital, autosomal recessive 14 autosomal recessive congenital ichthyosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0033092 MONDO:0017265 True ichthyosis, congenital, autosomal recessive 13 autosomal recessive congenital ichthyosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0033115 MONDO:0015244 True spinocerebellar ataxia, autosomal recessive 25 autosomal recessive cerebellar ataxia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0033116 MONDO:0015244 True spinocerebellar ataxia, autosomal recessive 26 autosomal recessive cerebellar ataxia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0033123 MONDO:0019516 True exudative vitreoretinopathy 7 exudative vitreoretinopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0033135 MONDO:0015626 True Charcot-Marie-Tooth disease, demyelinating, type 1G Charcot-Marie-Tooth disease UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0033198 MONDO:0019588 True hearing loss, autosomal recessive 106 hearing loss, autosomal recessive UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0033199 MONDO:0019588 True hearing loss, autosomal recessive 107 hearing loss, autosomal recessive UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0033200 MONDO:0019588 True hearing loss, autosomal recessive 108 hearing loss, autosomal recessive UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0033201 MONDO:0019588 True hearing loss, autosomal recessive 57 hearing loss, autosomal recessive UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0033202 MONDO:0019588 True hearing loss, autosomal recessive 109 hearing loss, autosomal recessive UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0033203 MONDO:0002350 True nephrotic syndrome 14 familial nephrotic syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0033204 MONDO:0016575 True ciliary dyskinesia, primary, 37 primary ciliary dyskinesia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0033258 MONDO:0019587 True hearing loss, autosomal dominant 71 autosomal dominant nonsyndromic hearing loss UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0033259 MONDO:0019587 True hearing loss, autosomal dominant 72 autosomal dominant nonsyndromic hearing loss UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0033260 MONDO:0019587 True hearing loss, autosomal dominant 73 autosomal dominant nonsyndromic hearing loss UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0033261 MONDO:0019587 True hearing loss, autosomal dominant 34, with or without inflammation autosomal dominant nonsyndromic hearing loss UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0033262 MONDO:0002350 True nephrotic syndrome 15 familial nephrotic syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0033280 MONDO:0002350 True nephrotic syndrome 16 familial nephrotic syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0033282 MONDO:0017338 True multiple mitochondrial dysfunctions syndrome 5 fatal multiple mitochondrial dysfunctions syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0033308 MONDO:0018772 True Joubert syndrome 30 Joubert syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0033309 MONDO:0018772 True Joubert syndrome 32 Joubert syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0033310 MONDO:0018772 True Joubert syndrome 31 Joubert syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0033311 MONDO:0018772 True Joubert syndrome 33 Joubert syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0033361 MONDO:0100062 True developmental and epileptic encephalopathy, 52 developmental and epileptic encephalopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0033362 MONDO:0100062 True developmental and epileptic encephalopathy, 53 developmental and epileptic encephalopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0033363 MONDO:0100062 True developmental and epileptic encephalopathy, 54 developmental and epileptic encephalopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0033364 MONDO:0100062 True developmental and epileptic encephalopathy, 55 developmental and epileptic encephalopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0033365 MONDO:0100062 True developmental and epileptic encephalopathy, 56 developmental and epileptic encephalopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0033366 MONDO:0100062 True developmental and epileptic encephalopathy, 57 developmental and epileptic encephalopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0033367 MONDO:0100062 True developmental and epileptic encephalopathy, 58 developmental and epileptic encephalopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0033368 MONDO:0100062 True developmental and epileptic encephalopathy, 59 developmental and epileptic encephalopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0033369 MONDO:0100062 True developmental and epileptic encephalopathy, 60 developmental and epileptic encephalopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0033370 MONDO:0100062 True developmental and epileptic encephalopathy, 61 developmental and epileptic encephalopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0033371 MONDO:0100062 True developmental and epileptic encephalopathy, 62 developmental and epileptic encephalopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0033372 MONDO:0100062 True developmental and epileptic encephalopathy, 63 developmental and epileptic encephalopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0033373 MONDO:0100062 True developmental and epileptic encephalopathy, 64 developmental and epileptic encephalopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0033374 MONDO:0100062 True developmental and epileptic encephalopathy, 65 developmental and epileptic encephalopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0033375 MONDO:0015375 True orofaciodigital syndrome 17 orofaciodigital syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0033479 MONDO:0020380 True spinocerebellar ataxia 44 autosomal dominant cerebellar ataxia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0033482 MONDO:0020380 True spinocerebellar ataxia 47 autosomal dominant cerebellar ataxia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0033483 MONDO:0001115 True erythrocytosis, familial, 5 familial polycythemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0033485 MONDO:0018770 True short-rib thoracic dysplasia 19 with or without polydactyly Jeune syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0033486 MONDO:0019046 True leukodystrophy, hypomyelinating, 14 leukodystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0033493 MONDO:0016070 True fibromatosis, gingival, 5 hereditary gingival fibromatosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0033533 MONDO:0000732 True combined oxidative phosphorylation deficiency 45 combined oxidative phosphorylation deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0033534 MONDO:0000732 True combined oxidative phosphorylation deficiency 46 combined oxidative phosphorylation deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0033537 MONDO:0000732 True combined oxidative phosphorylation deficiency 47 combined oxidative phosphorylation deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS MONDO:0033541 MONDO:0021094 True immunodeficiency 69 immunodeficiency disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0033542 MONDO:0021094 True immunodeficiency 70 immunodeficiency disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0033545 MONDO:0018158 True mitochondrial DNA depletion syndrome 19 mitochondrial DNA depletion syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0033548 MONDO:0019952 True myopathy, congenital, with diaphragmatic defects, respiratory insufficiency, and dysmorphic facies congenital myopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED MONDO:0033549 MONDO:0043878 True optic atrophy 12 hereditary optic atrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0033551 MONDO:0021094 True immunodeficiency 72 with autoinflammation immunodeficiency disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0033556 MONDO:0000172 True muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type b, 15 muscular dystrophy-dystroglycanopathy, type B UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0033560 MONDO:0003847 True mitochondrial complex 1 deficiency, nuclear type 35 hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0033563 MONDO:0019200 True retinitis pigmentosa 90 retinitis pigmentosa UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0033556 MONDO:0000172 True muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type B, 15 muscular dystrophy-dystroglycanopathy, type B UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0033563 MONDO:0019200 True retinitis pigmentosa 90 retinitis pigmentosa UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS MONDO:0033564 MONDO:0014769 True oocyte maturation defect 8 inherited oocyte maturation defect UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0033565 MONDO:0014769 True oocyte maturation defect 9 inherited oocyte maturation defect UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0033566 MONDO:0000732 True combined oxidative phosphorylation deficiency 48 combined oxidative phosphorylation deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0033569 MONDO:0003847 True combined oxidative phosphorylation deficiency 49 hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0033570 MONDO:0003847 True combined oxidative phosphorylation deficiency 50 hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0033614 MONDO:0019064 True spastic paraplegia 83, autosomal recessive hereditary spastic paraplegia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0033615 MONDO:0018151 True coenzyme q10 deficiency, primary, 9 coenzyme Q10 deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0033620 MONDO:0018943 True myofibrillar myopathy 10 myofibrillar myopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0033622 MONDO:0004983 True spermatogenic failure 44 spermatogenic failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0033631 MONDO:0000732 True combined oxidative phosphorylation deficiency 51 combined oxidative phosphorylation deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0033566 MONDO:0000732 True combined oxidative phosphorylation deficiency 48 combined oxidative phosphorylation deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0033614 MONDO:0019064 True spastic paraplegia 83, autosomal recessive hereditary spastic paraplegia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0033615 MONDO:0018151 True coenzyme q10 deficiency, primary, 9 coenzyme Q10 deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0033620 MONDO:0018943 True myofibrillar myopathy 10 myofibrillar myopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0033622 MONDO:0004983 True spermatogenic failure 44 spermatogenic failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0033631 MONDO:0000732 True combined oxidative phosphorylation deficiency 51 combined oxidative phosphorylation deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS MONDO:0033635 MONDO:0033885 True mitochondrial complex 4 deficiency, nuclear type 3 mitochondrial complex IV deficiency, nuclear-type UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0033636 MONDO:0033885 True mitochondrial complex 4 deficiency, nuclear type 4 mitochondrial complex IV deficiency, nuclear-type UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0033637 MONDO:0033885 True mitochondrial complex 4 deficiency, nuclear type 7 mitochondrial complex IV deficiency, nuclear-type UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0033638 MONDO:0033885 True mitochondrial complex 4 deficiency, nuclear type 8 mitochondrial complex IV deficiency, nuclear-type UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0033639 MONDO:0033885 True mitochondrial complex 4 deficiency, nuclear type 10 mitochondrial complex IV deficiency, nuclear-type UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0033643 MONDO:0005265 True inflammatory bowel disease 30 inflammatory bowel disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0033643 MONDO:0005265 True inflammatory bowel disease 30 inflammatory bowel disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS MONDO:0033645 MONDO:0033885 True mitochondrial complex 4 deficiency, nuclear type 11 mitochondrial complex IV deficiency, nuclear-type UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0033646 MONDO:0033885 True mitochondrial complex 4 deficiency, nuclear type 12 mitochondrial complex IV deficiency, nuclear-type UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0033649 MONDO:0033885 True mitochondrial complex 4 deficiency, nuclear type 14 mitochondrial complex IV deficiency, nuclear-type UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING @@ -17641,141 +10082,37 @@ MONDO:0033653 MONDO:0033885 True mitochondrial complex 4 deficiency, nuclear typ MONDO:0033654 MONDO:0033885 True mitochondrial complex 4 deficiency, nuclear type 19 mitochondrial complex IV deficiency, nuclear-type UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0033655 MONDO:0033885 True mitochondrial complex 4 deficiency, nuclear type 20 mitochondrial complex IV deficiency, nuclear-type UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0033656 MONDO:0033885 True mitochondrial complex 4 deficiency, nuclear type 21 mitochondrial complex IV deficiency, nuclear-type UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0033657 MONDO:0019046 True leukodystrophy, hypomyelinating, 20 leukodystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0033665 MONDO:0019587 True hearing loss, autosomal dominant 78 autosomal dominant nonsyndromic hearing loss UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0033668 MONDO:0019587 True hearing loss, autosomal dominant 79 autosomal dominant nonsyndromic hearing loss UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0033669 MONDO:0018997 True Noonan syndrome 13 Noonan syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0033670 MONDO:0019588 True hearing loss, autosomal recessive 116 hearing loss, autosomal recessive UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0033671 MONDO:0004983 True spermatogenic failure 45 spermatogenic failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0033673 MONDO:0004983 True spermatogenic failure 46 spermatogenic failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0033682 MONDO:0015159 True skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0033682 MONDO:0015708 True skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome immuno-osseous dysplasia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0033682 MONDO:0019694 True skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome spondylodysplastic dysplasia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0033683 MONDO:0015159 True congenital progressive bone marrow failure-B-cell immunodeficiency-skeletal dysplasia syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0033683 MONDO:0015708 True congenital progressive bone marrow failure-B-cell immunodeficiency-skeletal dysplasia syndrome immuno-osseous dysplasia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0033683 MONDO:0018234 True congenital progressive bone marrow failure-B-cell immunodeficiency-skeletal dysplasia syndrome dysostosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0033683 MONDO:0019054 True congenital progressive bone marrow failure-B-cell immunodeficiency-skeletal dysplasia syndrome congenital limb malformation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0033683 MONDO:0019453 True congenital progressive bone marrow failure-B-cell immunodeficiency-skeletal dysplasia syndrome myelodysplastic syndrome with multilineage dysplasia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0033717 MONDO:0020043 True congenital cerebellar ataxia due to RNU12 mutation autosomal recessive congenital cerebellar ataxia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0033810 MONDO:0019503 True isolated iridoschisis anterior segment dysgenesis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0033821 MONDO:0023865 True fungal keratitis corneal infection UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0033838 MONDO:0015923 True radiation-induced plexopathy acquired peripheral neuropathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0033838 MONDO:0043459 True radiation-induced plexopathy radiation-induced disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0033850 MONDO:0017762 True autosomal recessive axonal charcot-marie-tooth disease due to copper metabolism defect disorder of copper metabolism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0033862 MONDO:0019787 True primary autoimmune enteropathy autoimmune enteropathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0033946 MONDO:0019623 True hereditary angioedema with C1Inh deficiency hereditary angioedema UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0033946 MONDO:0027749 True hereditary angioedema with C1Inh deficiency serpinopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0033948 MONDO:0019624 True acquired angioedema with C1Inh deficiency acquired angioedema UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0033968 MONDO:0003778 True immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections-lymphopenia syndrome inborn error of immunity UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0033969 MONDO:0003778 True inflammatory bowel disease-recurrent sinopulmonary infections syndrome inborn error of immunity UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0033980 MONDO:0003266 True RELA fusion-positive ependymoma ependymal tumor UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0034021 MONDO:0020066 True spondylodysplastic Ehlers-Danlos syndrome Ehlers-Danlos syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0033657 MONDO:0019046 True leukodystrophy, hypomyelinating, 20 leukodystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0033665 MONDO:0019587 True hearing loss, autosomal dominant 78 autosomal dominant nonsyndromic hearing loss UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0033668 MONDO:0019587 True hearing loss, autosomal dominant 79 autosomal dominant nonsyndromic hearing loss UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0033669 MONDO:0018997 True Noonan syndrome 13 Noonan syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0033670 MONDO:0019588 True hearing loss, autosomal recessive 116 hearing loss, autosomal recessive UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0033671 MONDO:0004983 True spermatogenic failure 45 spermatogenic failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0033673 MONDO:0004983 True spermatogenic failure 46 spermatogenic failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0033946 MONDO:0019623 True hereditary angioedema with C1Inh deficiency hereditary angioedema UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0033954 MONDO:0002254 True monoclonal mast cell activation syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0033954 MONDO:0005046 True monoclonal mast cell activation syndrome immune system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0034022 MONDO:0008029 True Bethlem myopathy 2 Bethlem myopathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0034022 MONDO:0020066 True Bethlem myopathy 2 Ehlers-Danlos syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0034054 MONDO:0016537 True severe combined immunodeficiency due to CD70 deficiency lymphoproliferative syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0034092 MONDO:0020127 True optic atrophy-ataxia-peripheral neuropathy-global developmental delay syndrome hereditary peripheral neuropathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0034099 MONDO:0020071 True SYNGAP1-related developmental and epileptic encephalopathy infantile epilepsy syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0034103 MONDO:0001549 True infection-related hemolytic uremic syndrome hemolytic-uremic syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0034106 MONDO:0015159 True developmental and epileptic encephalopathy, 73 multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0034106 MONDO:0100062 True developmental and epileptic encephalopathy, 73 developmental and epileptic encephalopathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0034109 MONDO:0006025 True congenital myopathy with reduced type 2 muscle fibers autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0034109 MONDO:0019952 True congenital myopathy with reduced type 2 muscle fibers congenital myopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0034022 MONDO:0020066 True Bethlem myopathy 2 Ehlers-Danlos syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0034054 MONDO:0016537 True severe combined immunodeficiency due to CD70 deficiency lymphoproliferative syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0034106 MONDO:0100062 True developmental and epileptic encephalopathy, 73 developmental and epileptic encephalopathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS MONDO:0034121 MONDO:0014960 True NAD(P)HX dehydratase deficiency encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0034121 MONDO:0019052 True NAD(P)HX dehydratase deficiency inborn errors of metabolism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0034127 MONDO:0019337 True IgA pemphigus autoimmune bullous skin disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0034142 MONDO:0015159 True pancreatic agenesis-holoprosencephaly syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0034143 MONDO:0017198 True early-onset calcifying leukoencephalopathy-skeletal dysplasia osteopetrosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0034143 MONDO:0019046 True early-onset calcifying leukoencephalopathy-skeletal dysplasia leukodystrophy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0034145 MONDO:0005308 True oculocerebrodental syndrome ciliopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0034145 MONDO:0015159 True oculocerebrodental syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0034146 MONDO:0017847 True spastic ataxia-dysarthria due to glutaminase deficiency autosomal recessive spastic ataxia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0034186 MONDO:0019222 True autosomal recessive extra-oral halitosis inborn disorder of methionine cycle and sulfur amino acid metabolism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0034976 MONDO:0018686 True iatrogenic Creutzfeldt-Jakob disease acquired Creutzfeldt-Jakob disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0035004 MONDO:0018162 True serine biosynthesis pathway deficiency, infantile/juvenile form neurometabolic disorder due to serine deficiency UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0035112 MONDO:0018874 True acute myeloid leukemia with BCR-ABL1 acute myeloid leukemia UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0035117 MONDO:0015653 True PUM1-associated developmental disability-ataxia-seizure syndrome monogenic epilepsy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0035117 MONDO:0019792 True PUM1-associated developmental disability-ataxia-seizure syndrome autosomal dominant cerebellar ataxia type I UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0035121 MONDO:0015688 True myeloid/lymphoid neoplasm associated with JAK2 rearrangement myeloid/lymphoid neoplasms associated with eosinophilia and abnormality of PDGFRA, PDGFRB, FGFR1 or JAK2 UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0035124 MONDO:0019287 True linear hypopigmentation and craniofacial asymmetry with acral, ocular and brain anomalies ectodermal dysplasia syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0035124 MONDO:0019290 True linear hypopigmentation and craniofacial asymmetry with acral, ocular and brain anomalies hypopigmentation of the skin UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0035133 MONDO:0015159 True PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0035151 MONDO:0016915 True 17q24.2 microdeletion syndrome partial deletion of the long arm of chromosome 17 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0035153 MONDO:0005372 True male infertility due to acephalic spermatozoa male infertility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0035173 MONDO:0016874 True 9q21.13 microdeletion syndrome partial deletion of chromosome 9 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0035220 MONDO:0019623 True PLG-related hereditary angioedema with normal C1inh hereditary angioedema UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0035235 MONDO:0018824 True classic pyoderma gangrenosum pyoderma gangrenosum UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0035236 MONDO:0018824 True pustular pyoderma gangrenosum pyoderma gangrenosum UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0035237 MONDO:0018824 True bullous pyoderma gangrenosum pyoderma gangrenosum UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0035238 MONDO:0018824 True vegetative pyoderma gangrenosum pyoderma gangrenosum UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0035290 MONDO:0016244 True atypical hemolytic uremic syndrome with complement gene abnormality atypical hemolytic-uremic syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0035293 MONDO:0034103 True streptococcus pneumoniae-associated hemolytic uremic syndrome infection-related hemolytic uremic syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0035295 MONDO:0018960 True congenital primary megaureter, refluxing and obstructed form congenital primary megaureter UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0035320 MONDO:0018541 True early-onset familial hypoaldosteronism familial hypoaldosteronism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0035321 MONDO:0018541 True late-onset familial hypoaldosteronism familial hypoaldosteronism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0035349 MONDO:0006543 True localized dystrophic epidermolysis bullosa epidermolysis bullosa dystrophica UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0035400 MONDO:0016264 True seronegative autoimmune hepatitis autoimmune hepatitis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0035403 MONDO:0016092 True serous cystadenoma of childhood serous or mucinous cystadenoma of childhood UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0035404 MONDO:0016092 True mucinous cystadenoma of childhood serous or mucinous cystadenoma of childhood UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0035405 MONDO:0016092 True seromucinous cystadenoma of childhood serous or mucinous cystadenoma of childhood UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0035406 MONDO:0018941 True furuncular myiasis due to Dermatobia hominis furuncular myiasis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0035407 MONDO:0018941 True furuncular myiasis due to Cordylobia anthropophaga furuncular myiasis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0035408 MONDO:0018941 True furuncular myiasis due to Cordylobia rodhaini furuncular myiasis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0035410 MONDO:0013003 True isolated congenital aglossia isolated congenital hypoglossia/aglossia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0035411 MONDO:0013003 True isolated congenital hypoglossia isolated congenital hypoglossia/aglossia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0035423 MONDO:0015611 True triglyceride deposit cardiomyovasculopathy neutral lipid storage disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0035432 MONDO:0016971 True POMGNT2-related limb-girdle muscular dystrophy R24 limb-girdle muscular dystrophy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0035433 MONDO:0016971 True calpain-3-related limb-girdle muscular dystrophy D4 limb-girdle muscular dystrophy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0035437 MONDO:0019751 True CEBPE-associated autoinflammation-immunodeficiency-neutrophil dysfunction syndrome autoinflammatory syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0035444 MONDO:0007950 True acute mast cell leukemia mastocytosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0035445 MONDO:0007950 True chronic mast cell leukemia mastocytosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0035459 MONDO:0018170 True idiopathic multidrug-resistant nephrotic syndrome idiopathic nephrotic syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0035460 MONDO:0018170 True idiopathic steroid-resistant nephrotic syndrome with sensitivity to second-line immunosuppressive therapy idiopathic nephrotic syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0035472 MONDO:0019175 True GJC2-related late-onset primary lymphedema primary lymphedema UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0035473 MONDO:0019175 True warts-immunodeficiency-lymphedema-anogenital dysplasia syndrome primary lymphedema UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0035474 MONDO:0019175 True PIEZO1-related generalized lymphatic dysplasia with non-immune hydrops fetalis primary lymphedema UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0035475 MONDO:0019175 True EPHB4-related lymphatic-related hydrops fetalis primary lymphedema UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0035499 MONDO:0019175 True CELSR1-related late-onset primary lymphedema primary lymphedema UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0035521 MONDO:0016868 True blepharophimosis-ptosis-epicanthus inversus syndrome plus partial deletion of chromosome 3 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0035524 MONDO:0007201 True blepharophimosis-ptosis-epicanthus inversus syndrome type 1 blepharophimosis, ptosis, and epicanthus inversus syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0035525 MONDO:0007201 True blepharophimosis-ptosis-epicanthus inversus syndrome type 2 blepharophimosis, ptosis, and epicanthus inversus syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0035540 MONDO:0021227 True pheochromocytoma-paraganglioma adrenal gland neoplasm UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0035562 MONDO:0018926 True acquired human prion disease human prion disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0035112 MONDO:0018874 True acute myeloid leukemia with BCR-ABL1 acute myeloid leukemia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0035121 MONDO:0015688 True myeloid/lymphoid neoplasm associated with JAK2 rearrangement myeloid/lymphoid neoplasms associated with eosinophilia and abnormality of PDGFRA, PDGFRB, FGFR1 or JAK2 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0035605 MONDO:0003538 True B-lymphoblastic leukemia/lymphoma with recurrent genetic abnormality precursor lymphoblastic lymphoma/leukemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0035614 MONDO:0018926 True sporadic fatal insomnia human prion disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0035639 MONDO:0020743 True mixed phenotype acute leukemia with t(9;22)(q34.1;q11.2) mixed phenotype acute leukemia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0035642 MONDO:0020743 True mixed phenotype acute leukemia with t(v;11q23.3) mixed phenotype acute leukemia UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0035646 MONDO:0008056 True congenital-onset Steinert myotonic dystrophy myotonic dystrophy type 1 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0035647 MONDO:0016107 True childhood-onset Steinert myotonic dystrophy myotonic dystrophy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0035648 MONDO:0016107 True juvenile-onset Steinert myotonic dystrophy myotonic dystrophy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0035649 MONDO:0016107 True adult-onset Steinert myotonic dystrophy myotonic dystrophy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0035650 MONDO:0016107 True late-onset Steinert myotonic dystrophy myotonic dystrophy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0035663 MONDO:0019100 True neuromyelitis optica spectrum disorder with anti-AQP4 antibodies neuromyelitis optica UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0035664 MONDO:0019100 True neuromyelitis optica spectrum disorder with anti-MOG antibodies neuromyelitis optica UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0035665 MONDO:0019100 True neuromyelitis optica spectrum disorder without anti-MOG and without anti-AQP4 antibodies neuromyelitis optica UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0035666 MONDO:0015342 True acute transverse myelitis with anti-MOG antibodies acute transverse myelitis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0035667 MONDO:0044688 True isolated optic neuritis without anti-MOG antibodies isolated optic neuritis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0035668 MONDO:0044688 True isolated optic neuritis with anti-MOG antibodies isolated optic neuritis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0035669 MONDO:0019383 True acute disseminated encephalomyelitis with anti-MOG antibodies acute disseminated encephalomyelitis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0035670 MONDO:0019383 True acute disseminated encephalomyelitis without anti-MOG antibodies acute disseminated encephalomyelitis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0035694 MONDO:0015131 True combined immunodeficiency due to RELA haploinsufficiency combined immunodeficiency UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0035696 MONDO:0035357 True incomplete septal cirrhosis portosinusoidal vascular disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0035734 MONDO:0019623 True hereditary angioedema with normal C1inh not related to F12 or PLG variant hereditary angioedema UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0035782 MONDO:0019938 True non-syndromic anorectal malformation with rectourethral fistula, bulbar type anorectal malformation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0035783 MONDO:0019938 True non-syndromic anorectal malformation with rectourethral fistula, prostatic type anorectal malformation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0035838 MONDO:0015564 True idiopathic multicentric Castleman disease Castleman disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0035892 MONDO:0020129 True Mills syndrome acquired motor neuron disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0035930 MONDO:0000179 True neu-laxova syndrome due to 3-phosphoserine phosphatase deficiency Neu-Laxova syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0035940 MONDO:0035605 True B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) B-lymphoblastic leukemia/lymphoma with recurrent genetic abnormality UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0035941 MONDO:0035605 True B-lymphoblastic leukemia/lymphoma with t(v;11q23.3) B-lymphoblastic leukemia/lymphoma with recurrent genetic abnormality UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0035942 MONDO:0035605 True B-lymphoblastic leukemia/lymphoma with t(12;21)(p13.2;q22.1) B-lymphoblastic leukemia/lymphoma with recurrent genetic abnormality UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0035943 MONDO:0035605 True B-lymphoblastic leukemia/lymphoma with hyperdiploidy B-lymphoblastic leukemia/lymphoma with recurrent genetic abnormality UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0035944 MONDO:0035605 True B-lymphoblastic leukemia/lymphoma with hypodiploidy B-lymphoblastic leukemia/lymphoma with recurrent genetic abnormality UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0035945 MONDO:0035605 True B-lymphoblastic leukemia/lymphoma with t(5;14)(q31.1;q32.3) B-lymphoblastic leukemia/lymphoma with recurrent genetic abnormality UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0036217 MONDO:0032931 True lethal pontocerebellar hypoplasia-hypotonia-respiratory insufficiency syndrome due to a point mutation pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome, neonatal lethal UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0036218 MONDO:0032931 True lethal pontocerebellar hypoplasia-hypotonia-respiratory insufficiency syndrome due to biallelic deletions in the ATAD3 gene cluster pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome, neonatal lethal UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0036482 MONDO:0019200 True retinitis pigmentosa 81 retinitis pigmentosa UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0036483 MONDO:0018770 True short-rib thoracic dysplasia 18 with polydactyly Jeune syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0036484 MONDO:0018778 True Charcot-Marie-Tooth disease, dominant intermediate G intermediate Charcot-Marie-Tooth disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0035642 MONDO:0020743 True mixed phenotype acute leukemia with t(v;11q23.3) mixed phenotype acute leukemia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0035737 MONDO:0020586 True acquired factor V deficiency factor V deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0035737 MONDO:0020599 True acquired factor V deficiency acquired coagulation factor deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0035738 MONDO:0020599 True acquired factor VII deficiency acquired coagulation factor deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0035740 MONDO:0020587 True acquired factor XI deficiency factor XI deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0035940 MONDO:0035605 True B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) B-lymphoblastic leukemia/lymphoma with recurrent genetic abnormality UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0035941 MONDO:0035605 True B-lymphoblastic leukemia/lymphoma with t(v;11q23.3) B-lymphoblastic leukemia/lymphoma with recurrent genetic abnormality UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0035942 MONDO:0035605 True B-lymphoblastic leukemia/lymphoma with t(12;21)(p13.2;q22.1) B-lymphoblastic leukemia/lymphoma with recurrent genetic abnormality UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0035943 MONDO:0035605 True B-lymphoblastic leukemia/lymphoma with hyperdiploidy B-lymphoblastic leukemia/lymphoma with recurrent genetic abnormality UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0035944 MONDO:0035605 True B-lymphoblastic leukemia/lymphoma with hypodiploidy B-lymphoblastic leukemia/lymphoma with recurrent genetic abnormality UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0035945 MONDO:0035605 True B-lymphoblastic leukemia/lymphoma with t(5;14)(q31.1;q32.3) B-lymphoblastic leukemia/lymphoma with recurrent genetic abnormality UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0036482 MONDO:0019200 True retinitis pigmentosa 81 retinitis pigmentosa UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0036483 MONDO:0018770 True short-rib thoracic dysplasia 18 with polydactyly Jeune syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS MONDO:0036501 MONDO:0004992 True refractory malignant neoplasm cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0036511 MONDO:0002367 True childhood malignant kidney neoplasm kidney cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0036511 MONDO:0002730 True childhood malignant kidney neoplasm childhood kidney neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -17793,7 +10130,6 @@ MONDO:0036870 MONDO:0024296 True lymphatic vessel neoplasm vascular neoplasm UNS MONDO:0036915 MONDO:0000646 True benign ovarian mucinous tumor ovarian benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0036915 MONDO:0003756 True benign ovarian mucinous tumor ovarian mucinous neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0036915 MONDO:0036976 True benign ovarian mucinous tumor benign epithelial neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0036918 MONDO:0019268 True punctate acrokeratoderma freckle-like pigmentation epidermal disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0036976 MONDO:0005165 True benign epithelial neoplasm benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0036976 MONDO:0005626 True benign epithelial neoplasm epithelial neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0036990 MONDO:0006266 True benign Leydig cell tumor Leydig cell tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -17803,7 +10139,6 @@ MONDO:0037003 MONDO:0005078 True malignant phyllodes tumor phyllodes tumor UNSUP MONDO:0037003 MONDO:0005853 True malignant phyllodes tumor malignant mixed neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0037105 MONDO:0018201 True lung germ cell tumor extragonadal germ cell tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0037105 MONDO:0021117 True lung germ cell tumor lung neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0037149 MONDO:0010327 True HSD10 disease, atypical type HSD10 mitochondrial disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0037250 MONDO:0021079 True childhood testicular neoplasm childhood neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0037250 MONDO:0021348 True childhood testicular neoplasm neoplasm of testis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0037252 MONDO:0006055 True thecoma sex cord-stromal tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -17827,10 +10162,12 @@ MONDO:0037743 MONDO:0024637 True mediastinal soft tissue cancer malignant soft t MONDO:0037745 MONDO:0006424 True fibromyxoid tumor soft tissue neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0037746 MONDO:0001402 True malignant vaginal mixed epithelial and mesenchymal neoplasm vaginal cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0037746 MONDO:0005853 True malignant vaginal mixed epithelial and mesenchymal neoplasm malignant mixed neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0040500 MONDO:0019502 True glycosylphosphatidylinositol biosynthesis defect 16 autosomal recessive non-syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0040501 MONDO:0020066 True ehlers-danlos syndrome, arthrochalasia type, 2 Ehlers-Danlos syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0037748 MONDO:0005066 True hyperlipoproteinemia metabolic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0037858 MONDO:0002525 True inherited fatty acid metabolism disorder inherited lipid metabolism disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0040500 MONDO:0019502 True glycosylphosphatidylinositol biosynthesis defect 16 autosomal recessive non-syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0040501 MONDO:0020066 True ehlers-danlos syndrome, arthrochalasia type, 2 Ehlers-Danlos syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS MONDO:0040502 MONDO:0008733 True glucocorticoid deficiency 5 familial glucocorticoid deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0040503 MONDO:0007339 True blepharocheilodontic syndrome 2 blepharocheilodontic syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0040503 MONDO:0007339 True blepharocheilodontic syndrome 2 blepharocheilodontic syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS MONDO:0040673 MONDO:0002087 True malignant peritoneal germ cell tumor peritoneum cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0040673 MONDO:0003113 True malignant peritoneal germ cell tumor extragonadal germ cell cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0040675 MONDO:0006209 True myofibroblastoma fibroblastic neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -17841,9 +10178,11 @@ MONDO:0040678 MONDO:0040677 True infiltrating urothelial carcinoma invasive carc MONDO:0040679 MONDO:0006295 True urothelial carcinoma malignant urinary system neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0040679 MONDO:0006474 True urothelial carcinoma transitional cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0040679 MONDO:0024337 True urothelial carcinoma urothelial neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0040923 MONDO:0005822 True late latent syphilis latent syphilis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0041447 MONDO:0024880 True metastatic malignant neoplasm in the colon metastatic malignant neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0042486 MONDO:0011023 True polyposis syndrome, hereditary mixed, 1 hereditary mixed polyposis syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0042487 MONDO:0004710 True uterine cervix carcinoma in situ uterus carcinoma in situ UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0042233 MONDO:0002026 True disseminated candidiasis candidiasis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0042485 MONDO:0005578 True infective arthritis arthritic joint disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0042486 MONDO:0011023 True polyposis syndrome, hereditary mixed, 1 hereditary mixed polyposis syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS MONDO:0042487 MONDO:0005131 True uterine cervix carcinoma in situ cervical carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0042491 MONDO:0021230 True cervical squamous intraepithelial neoplasia uterine cervix neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0042491 MONDO:0022394 True cervical squamous intraepithelial neoplasia cervical intraepithelial neoplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -17852,132 +10191,131 @@ MONDO:0042493 MONDO:0001059 True gastric non-hodgkin lymphoma gastric lymphoma U MONDO:0042493 MONDO:0018908 True gastric non-hodgkin lymphoma non-Hodgkin lymphoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0042494 MONDO:0005105 True childhood malignant melanoma melanoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0042494 MONDO:0006517 True childhood malignant melanoma childhood malignant neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0042499 MONDO:0017615 True benign familial neonatal-infantile seizures 1 benign familial infantile epilepsy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0042499 MONDO:0017615 True benign familial neonatal-infantile seizures 1 benign familial infantile epilepsy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS MONDO:0042727 MONDO:0002601 True sacrococcygeal teratoma teratoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0042981 MONDO:0003803 True aortic valve stenosis aortic valve disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0043143 MONDO:0015168 True microphthalmia microtia fetal akinesia arthrogryposis multiplex congenita UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0043143 MONDO:0016073 True microphthalmia microtia fetal akinesia syndromic microphthalmia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0043143 MONDO:0043009 True microphthalmia microtia fetal akinesia hereditary lethal multiple congenital anomalies/dysmorphic syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0043317 MONDO:0016367 True amyopathic dermatomyositis dermatomyositis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0044200 MONDO:0015974 True T-B+ severe combined immunodeficiency severe combined immunodeficiency UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0044201 MONDO:0015974 True T+ B+ severe combined immunodeficiency severe combined immunodeficiency UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0044202 MONDO:0015427 True episodic kinesigenic dyskinesia paroxysmal dyskinesia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0042976 MONDO:0024298 True vitamin B deficiency vitamin deficiency disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0042982 MONDO:0021094 True GATA2 deficiency with susceptibility to MDS/AML immunodeficiency disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0043103 MONDO:0018612 True hypothyroidism due to iodide transport defect congenital hypothyroidism UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0043218 MONDO:0005071 True neurovascular disorder nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0043224 MONDO:0004648 True multi-infarct dementia vascular dementia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0043240 MONDO:0005578 True hemophilic arthropathy arthritic joint disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0043243 MONDO:0021074 True leukoplakia precancerous condition UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0043247 MONDO:0002254 True Mallory-Weiss syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0043251 MONDO:0006499 True odontoma hamartoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0043251 MONDO:0006858 True odontoma mouth disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0043287 MONDO:0002254 True superior vena cava syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0043294 MONDO:0019562 True linear scleroderma localized scleroderma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0043300 MONDO:0002102 True actinic cheilitis cheilitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0043303 MONDO:0021205 True hyperacusis disorder of ear UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0043303 MONDO:0024422 True hyperacusis auditory perceptual disorders UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0043320 MONDO:0002254 True piriformis syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0043355 MONDO:0004966 True collagenous gastritis gastritis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0043370 MONDO:0000004 True secondary adrenal insufficiency adrenocortical insufficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0043424 MONDO:0004335 True digestive system infectious disorder digestive system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0043424 MONDO:0005550 True digestive system infectious disorder infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0043455 MONDO:0001566 True humoral hypercalcemia of malignancy hypercalcemia disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0043465 MONDO:0004298 True achlorhydria stomach disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0043468 MONDO:0005348 True acne keloid keloid UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0043472 MONDO:0021058 True ectopic ACTH secretion syndrome neoplastic syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0043475 MONDO:0002254 True Adams-Stokes syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0043494 MONDO:0000473 True arteritis arterial disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0043494 MONDO:0018882 True arteritis vasculitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0043512 MONDO:0005560 True traumatic encephalopathy brain disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0043519 MONDO:0021178 True burn injury UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0043537 MONDO:0015530 True cluster headache syndrome trigeminal autonomic cephalalgia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0043541 MONDO:0003799 True viral conjunctivitis conjunctivitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0043544 MONDO:0005550 True nosocomial infection infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0043576 MONDO:0043494 True endarteritis arteritis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0043683 MONDO:0002254 True Leriche syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0043693 MONDO:0005154 True alcoholic liver diseases liver disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0043726 MONDO:0002254 True multiple organ dysfunction syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0043735 MONDO:0005380 True osteoradionecrosis osteonecrosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0043759 MONDO:0000755 True abdominal ectopic pregnancy ectopic pregnancy UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0043762 MONDO:0000755 True tubal pregnancy ectopic pregnancy UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0043765 MONDO:0005365 True presbycusis hearing loss disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0043771 MONDO:0002406 True radiodermatitis dermatitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0043771 MONDO:0043459 True radiodermatitis radiation-induced disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0043789 MONDO:0002459 True serum sickness type IV hypersensitivity disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0043862 MONDO:0004382 True voice disorders laryngeal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0043875 MONDO:0021058 True tumor lysis syndrome neoplastic syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0043885 MONDO:0005328 True eye infectious disorder eye disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0043885 MONDO:0005550 True eye infectious disorder infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0043892 MONDO:0005550 True prosthesis-related infectious disease infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0043905 MONDO:0005275 True pneumonitis lung disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0043923 MONDO:0006572 True lichen planus, oral lichen planus UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0043994 MONDO:0002155 True acute cholecystitis cholecystitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0044001 MONDO:0005365 True hearing loss, mixed conductive-sensorineural hearing loss disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0044033 MONDO:0002254 True posterior leukoencephalopathy syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0044067 MONDO:0002026 True candidiasis, invasive candidiasis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0044079 MONDO:0002254 True cardio-renal syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0044092 MONDO:0005020 True collagenous sprue intestinal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0044098 MONDO:0000755 True ovarian ectopic pregnancy ectopic pregnancy UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0044101 MONDO:0000755 True pregnancy, cornual ectopic pregnancy UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0044113 MONDO:0007915 True bullous systemic lupus erythematosus systemic lupus erythematosus UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0044137 MONDO:0005328 True vitreous body disorder eye disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0044138 MONDO:0044137 True hyalitis vitreous body disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0044204 MONDO:0009833 True Shwachman-Diamond syndrome 1 Shwachman-Diamond syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0044205 MONDO:0009833 True Shwachman-Diamond syndrome 2 Shwachman-Diamond syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0044206 MONDO:0008975 True otospondylomegaepiphyseal dysplasia, autosomal recessive otospondylomegaepiphyseal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0044207 MONDO:0009506 True specific granule deficiency 1 specific granule deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0044208 MONDO:0009506 True specific granule deficiency 2 specific granule deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0044211 MONDO:0005492 True idiopathic urticaria urticaria SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0044299 MONDO:0018940 True myasthenic syndrome, congenital, 22 congenital myasthenic syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0044300 MONDO:0021055 True familial adenomatous polyposis 4 classic familial adenomatous polyposis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0044302 MONDO:0003847 True congenital heart defects, dysmorphic facial features, and intellectual developmental disorder hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0044305 MONDO:0019287 True ectodermal dysplasia 13, hair/tooth type ectodermal dysplasia syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0044306 MONDO:0015653 True neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination monogenic epilepsy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0044308 MONDO:0015229 True bardet-biedl syndrome 21 Bardet-Biedl syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0044309 MONDO:0015253 True Diamond-Blackfan anemia 16 Diamond-Blackfan anemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0044310 MONDO:0015253 True Diamond-Blackfan anemia 17 Diamond-Blackfan anemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0044311 MONDO:0003847 True brachycephaly, trichomegaly, and developmental delay hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0044313 MONDO:0019502 True intellectual disability, autosomal recessive 60 autosomal recessive non-syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0044299 MONDO:0018940 True myasthenic syndrome, congenital, 22 congenital myasthenic syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0044300 MONDO:0021055 True familial adenomatous polyposis 4 classic familial adenomatous polyposis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0044305 MONDO:0019287 True ectodermal dysplasia 13, hair/tooth type ectodermal dysplasia syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0044308 MONDO:0015229 True bardet-biedl syndrome 21 Bardet-Biedl syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0044309 MONDO:0015253 True Diamond-Blackfan anemia 16 Diamond-Blackfan anemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0044310 MONDO:0015253 True Diamond-Blackfan anemia 17 Diamond-Blackfan anemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0044313 MONDO:0019502 True intellectual disability, autosomal recessive 60 autosomal recessive non-syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS MONDO:0044314 MONDO:0019200 True retinitis pigmentosa 78 retinitis pigmentosa UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0044317 MONDO:0019852 True premature ovarian failure 13 inherited primary ovarian failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0044319 MONDO:0015159 True intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0044319 MONDO:0015653 True intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies monogenic epilepsy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0044320 MONDO:0019200 True retinitis pigmentosa 79 retinitis pigmentosa UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0044325 MONDO:0019391 True Fanconi anemia, complementation group W Fanconi anemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0044327 MONDO:0000447 True polycystic liver disease 4 with or without kidney cysts autosomal dominant polycystic liver disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0044328 MONDO:0018770 True short-rib thoracic dysplasia 20 with polydactyly Jeune syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0044330 MONDO:0021022 True hyperekplexia 4 hereditary hyperekplexia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0044332 MONDO:0015548 True childhood-onset benign chorea with striatal involvement Huntington disease-like syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0044330 MONDO:0021022 True hyperekplexia 4 hereditary hyperekplexia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0044333 MONDO:0010198 True alcohol-induced Wernicke-Korsakoff's syndrome Wernicke-Korsakoff syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0044334 MONDO:0005070 True connective and soft tissue neoplasm neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0044335 MONDO:0000654 True benign soft tissue neoplasm benign connective and soft tissue neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0044335 MONDO:0006424 True benign soft tissue neoplasm soft tissue neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0044336 MONDO:0005008 True colorectal signet ring cell carcinoma colorectal adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0044336 MONDO:0005092 True colorectal signet ring cell carcinoma signet ring cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0044337 MONDO:0018078 True stromal sarcoma soft tissue sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0044406 MONDO:0019287 True arthrogryposis-ectodermal dysplasia-other anomalies syndrome ectodermal dysplasia syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0044406 MONDO:0019942 True arthrogryposis-ectodermal dysplasia-other anomalies syndrome distal arthrogryposis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0044619 MONDO:0016677 True propylthiouracil embryofetopathy toxic or drug-related embryofetopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0044621 MONDO:0015159 True 16p12.1p12.3 triplication syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0044621 MONDO:0016949 True 16p12.1p12.3 triplication syndrome partial duplication of the short arm of chromosome 16 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0044622 MONDO:0020127 True EMILIN-1-related connective tissue disease hereditary peripheral neuropathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0044625 MONDO:0018993 True autosomal dominant charcot-marie-tooth disease type 2 due to DGAT2 mutation Charcot-Marie-Tooth disease type 2 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0044628 MONDO:0016643 True six2-related frontonasal dysplasia frontonasal dysplasia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0044629 MONDO:0015225 True congenital amyoplasia arthrogryposis syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0044633 MONDO:0002429 True idiopathic pleuroparenchymal fibroelastosis idiopathic interstitial pneumonia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0044634 MONDO:0002254 True retinitis pigmentosa-hearing loss-premature aging-short stature-facial dysmorphism syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0044634 MONDO:0003847 True retinitis pigmentosa-hearing loss-premature aging-short stature-facial dysmorphism syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0044635 MONDO:0018795 True DIAPH1-related sensorineural hearing loss-thrombocytopenia syndrome syndromic constitutional thrombocytopenia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0044637 MONDO:0015990 True infantile-onset generalized dyskinesia with orofacial involvement focal, segmental or multifocal dystonia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0044339 MONDO:0011385 True lumbar disk degenerative disorder intervertebral disk degenerative disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0044342 MONDO:0011385 True thoracic disk degenerative disorder intervertebral disk degenerative disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0044343 MONDO:0011385 True cervical disk degenerative disorder intervertebral disk degenerative disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0044344 MONDO:0015254 True Schistosoma japonicum infectious disease schistosomiasis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0044345 MONDO:0015254 True Schistosoma mansoni infectious disease schistosomiasis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0044351 MONDO:0015254 True Schistosoma intercalatum infectious disease schistosomiasis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0044638 MONDO:0000536 True hypopharynx squamous cell carcinoma pharyngeal squamous cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0044638 MONDO:0005216 True hypopharynx squamous cell carcinoma hypopharyngeal carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0044641 MONDO:0015159 True 9q33.3q34.11 microdeletion syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0044641 MONDO:0016908 True 9q33.3q34.11 microdeletion syndrome partial monosomy of the long arm of chromosome 9 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0044642 MONDO:0019046 True c11orf73-related autosomal recessive hypomyelinating leukodystrophy leukodystrophy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0044643 MONDO:0015159 True congenital labioscrotal agenesis-cerebellar malformation-corneal dystrophy-facial dysmorphism syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0044643 MONDO:0020022 True congenital labioscrotal agenesis-cerebellar malformation-corneal dystrophy-facial dysmorphism syndrome central nervous system malformation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0044645 MONDO:0018881 True familial monosomy 7 syndrome myelodysplastic syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING -MONDO:0044646 MONDO:0015159 True early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0044646 MONDO:0024237 True early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome inherited neurodegenerative disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0044647 MONDO:0018943 True kyphosis-lateral tongue atrophy-myofibrillar myopathy syndrome myofibrillar myopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0044648 MONDO:0015150 True kyphoscoliosis-lateral tongue atrophy-hereditary spastic paraplegia syndrome complex hereditary spastic paraplegia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0044649 MONDO:0018234 True omphalocele-diaphragmatic hernia-cardiovascular anomalies-radial ray defect syndrome dysostosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0044649 MONDO:0019054 True omphalocele-diaphragmatic hernia-cardiovascular anomalies-radial ray defect syndrome congenital limb malformation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0044651 MONDO:0015363 True early-onset progressive encephalopathy-spastic ataxia-distal spinal muscular atrophy syndrome neuronopathy, distal hereditary motor, autosomal recessive UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0044651 MONDO:0018307 True early-onset progressive encephalopathy-spastic ataxia-distal spinal muscular atrophy syndrome neurodegeneration with brain iron accumulation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0044651 MONDO:0020046 True early-onset progressive encephalopathy-spastic ataxia-distal spinal muscular atrophy syndrome autosomal recessive degenerative and progressive cerebellar ataxia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0044656 MONDO:0017266 True epidermolytic nevus keratinopathic ichthyosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0044657 MONDO:0018993 True MME-related autosomal dominant Charcot Marie Tooth disease type 2 Charcot-Marie-Tooth disease type 2 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0044663 MONDO:0019268 True aquagenic palmoplantar keratoderma epidermal disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0044675 MONDO:0018230 True LRP5-related primary osteoporosis skeletal dysplasia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0044682 MONDO:0015168 True MYBPC1-related autosomal recessive non-lethal arthrogryposis multiplex congenita syndrome arthrogryposis multiplex congenita UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0044687 MONDO:0044685 True chronic relapsing inflammatory optic neuropathy autoimmune/inflammatory optic neuropathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0044688 MONDO:0044685 True isolated optic neuritis autoimmune/inflammatory optic neuropathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0044689 MONDO:0044685 True recurrent idiopathic neuroretinitis autoimmune/inflammatory optic neuropathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0044690 MONDO:0044685 True optic perineuritis autoimmune/inflammatory optic neuropathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0044696 MONDO:0015159 True early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0044699 MONDO:0015159 True SIN3A-related intellectual disability syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0044700 MONDO:0044699 True SIN3A-related intellectual disability syndrome due to a point mutation SIN3A-related intellectual disability syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0044702 MONDO:0018751 True X-linked external auditory canal atresia-dilated internal auditory canal-facial dysmorphism syndrome hereditary otorhinolaryngologic disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0044702 MONDO:0019755 True X-linked external auditory canal atresia-dilated internal auditory canal-facial dysmorphism syndrome developmental defect during embryogenesis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0044702 MONDO:0020768 True X-linked external auditory canal atresia-dilated internal auditory canal-facial dysmorphism syndrome X-linked deafness UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0044704 MONDO:0000536 True oropharynx squamous cell carcinoma pharyngeal squamous cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0044704 MONDO:0044926 True oropharynx squamous cell carcinoma oropharyngeal carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0044705 MONDO:0000380 True paranasal sinus squamous cell carcinoma paranasal sinus carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0044705 MONDO:0010150 True paranasal sinus squamous cell carcinoma head and neck squamous cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0044709 MONDO:0015604 True cochleovestibular dysplasia middle ear anomaly UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0044710 MONDO:0010150 True lip and oral cavity squamous cell carcinoma head and neck squamous cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0044710 MONDO:0023644 True lip and oral cavity squamous cell carcinoma lip and oral cavity carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0044714 MONDO:0009637 True mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome inborn mitochondrial myopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0044717 MONDO:0016903 True 4q25 proximal deletion syndrome partial deletion of the long arm of chromosome 4 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0044718 MONDO:0019046 True alkaline ceramidase 3 deficiency leukodystrophy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING -MONDO:0044719 MONDO:0017396 True erythema multiforme major toxic dermatosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0044720 MONDO:0020047 True cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome autosomal recessive syndromic cerebellar ataxia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0044721 MONDO:0044200 True severe combined immunodeficiency due to LAT deficiency T-B+ severe combined immunodeficiency UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0044723 MONDO:0017359 True 3-methylglutaconic aciduria type 8 3-methylglutaconic aciduria UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0044724 MONDO:0017359 True 3-methylglutaconic aciduria type 9 3-methylglutaconic aciduria UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0044710 MONDO:0024623 True lip and oral cavity squamous cell carcinoma otorhinolaryngologic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0044723 MONDO:0017359 True 3-methylglutaconic aciduria type 8 3-methylglutaconic aciduria UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0044724 MONDO:0017359 True 3-methylglutaconic aciduria type 9 3-methylglutaconic aciduria UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS MONDO:0044725 MONDO:0021094 True combined immunodeficiency due to GINS1 deficiency immunodeficiency disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0044726 MONDO:0015962 True psychomotor regression-oculomotor apraxia-movement disorder-nephropathy syndrome inherited renal tubular disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0044726 MONDO:0017764 True psychomotor regression-oculomotor apraxia-movement disorder-nephropathy syndrome disorder of zinc metabolism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0044726 MONDO:0024237 True psychomotor regression-oculomotor apraxia-movement disorder-nephropathy syndrome inherited neurodegenerative disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0044727 MONDO:0005192 True pancreatic carcinoma with mixed differentiation exocrine pancreatic carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0044727 MONDO:0006182 True pancreatic carcinoma with mixed differentiation digestive system mixed adenoneuroendocrine carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0044737 MONDO:0015150 True autosomal recessive complex spastic paraplegia due to kennedy pathway dysfunction complex hereditary spastic paraplegia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0044737 MONDO:0018117 True autosomal recessive complex spastic paraplegia due to kennedy pathway dysfunction disorder of phospholipids, sphingolipids and fatty acids biosynthesis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0044738 MONDO:0015159 True Gabriele de Vries syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0044739 MONDO:0019810 True Stevens-Johnson syndrome/toxic epidermal necrolysis overlap syndrome toxic epidermal necrolysis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0044740 MONDO:0000521 True salivary gland squamous cell carcinoma salivary gland carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0044740 MONDO:0017167 True salivary gland squamous cell carcinoma malignant epithelial tumor of salivary glands UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0044743 MONDO:0004669 True major salivary gland cancer salivary gland cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0044743 MONDO:0021368 True major salivary gland cancer neoplasm of major salivary gland UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0044753 MONDO:0005965 True lumbar spinal stenosis spinal stenosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0044764 MONDO:0016717 True benign choroid plexus neoplasm choroid plexus neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0044764 MONDO:0021451 True benign choroid plexus neoplasm benign neoplasm of brain UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0044767 MONDO:0004974 True childhood adrenal gland pheochromocytoma adrenal gland pheochromocytoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0044767 MONDO:0021079 True childhood adrenal gland pheochromocytoma childhood neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0044765 MONDO:0005377 True steroid-resistant nephrotic syndrome nephrotic syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0044767 MONDO:0004974 True childhood adrenal gland pheochromocytoma adrenal gland pheochromocytoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0044768 MONDO:0001608 True vagus nerve paraganglioma vagus nerve neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0044768 MONDO:0006239 True vagus nerve paraganglioma head and neck paraganglioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0044776 MONDO:0019852 True premature ovarian failure 10 inherited primary ovarian failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0044777 MONDO:0019852 True premature ovarian failure 14 inherited primary ovarian failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0044778 MONDO:0004952 True nodular lymphocyte predominant Hodgkin lymphoma Hodgkins lymphoma UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0044778 MONDO:0004952 True nodular lymphocyte predominant Hodgkin lymphoma Hodgkins lymphoma UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0044782 MONDO:0003749 True esophageal ulcer esophageal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0044783 MONDO:0003532 True solid papillary breast carcinoma breast papillary carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0044784 MONDO:0044335 True myxoma benign soft tissue neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0044785 MONDO:0005012 True desmoplastic melanoma cutaneous melanoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -17995,8 +10333,16 @@ MONDO:0044796 MONDO:0044793 True spindle cell nevus spitz nevus UNSUPPORTED-MISS MONDO:0044797 MONDO:0044794 True desmoplastic nevus benign melanocytic skin nevus UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0044800 MONDO:0044793 True desmoplastic spitz nevus spitz nevus UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0044800 MONDO:0044797 True desmoplastic spitz nevus desmoplastic nevus UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0044807 MONDO:0003441 True inherited dystonia dystonic disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0044811 MONDO:0003441 True idiopathic torsion dystonia dystonic disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0044816 MONDO:0044807 True familial idiopathic torsion dystonia inherited dystonia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0044816 MONDO:0044811 True familial idiopathic torsion dystonia idiopathic torsion dystonia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0044817 MONDO:0044811 True acquired idiopathic torsion dystonia idiopathic torsion dystonia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0044873 MONDO:0018881 True childhood myelodysplastic syndrome myelodysplastic syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0044877 MONDO:0018215 True paraneoplastic cerebellar degeneration paraneoplastic neurologic syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0044874 MONDO:0044873 True refractory cytopenia of childhood childhood myelodysplastic syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0044875 MONDO:0005267 True coronary microvascular disorder heart disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0044876 MONDO:0002254 True drug hypersensitivity syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0044877 MONDO:0022687 True paraneoplastic cerebellar degeneration cerebellar degeneration UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0044878 MONDO:0005040 True adult germ cell tumor germ cell tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0044879 MONDO:0024338 True pancreatic mucinous-cystic neoplasm mucinous neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0044881 MONDO:0002334 True hematopoietic and lymphoid cell neoplasm hematopoietic and lymphoid system neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -18023,7 +10369,9 @@ MONDO:0044917 MONDO:0003537 True T-lymphoblastic lymphoma precursor T-lymphoblas MONDO:0044917 MONDO:0015760 True T-lymphoblastic lymphoma T-cell non-Hodgkin lymphoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0044919 MONDO:0002367 True malignant renal pelvis neoplasm kidney cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0044919 MONDO:0003719 True malignant renal pelvis neoplasm renal pelvis neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0044923 MONDO:0018874 True acute myeloid leukemia with mutated NPM1 acute myeloid leukemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0044921 MONDO:0016537 True atypical lymphoproliferative disorder lymphoproliferative syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0044921 MONDO:0060782 True atypical lymphoproliferative disorder premalignant hematological system disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0044923 MONDO:0018874 True acute myeloid leukemia with mutated NPM1 acute myeloid leukemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0044925 MONDO:0005515 True oral cavity carcinoma oral cavity cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0044925 MONDO:0023644 True oral cavity carcinoma lip and oral cavity carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0044926 MONDO:0002038 True oropharyngeal carcinoma head and neck carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -18037,12 +10385,15 @@ MONDO:0044964 MONDO:0003036 True oral cavity mucoepidermoid carcinoma mucoepider MONDO:0044964 MONDO:0044925 True oral cavity mucoepidermoid carcinoma oral cavity carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0044983 MONDO:0000654 True benign lipomatous neoplasm benign connective and soft tissue neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0044983 MONDO:0021354 True benign lipomatous neoplasm tumor of adipose tissue UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0045048 MONDO:0024664 True toxemia of pregnancy hypertension, pregnancy-induced UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0045050 MONDO:0005129 True nuclear cataract cataract UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0045051 MONDO:0005129 True cortical cataract cataract UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0045052 MONDO:0000654 True benign osteogenic neoplasm benign connective and soft tissue neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0045052 MONDO:0045053 True benign osteogenic neoplasm osteogenic neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0045053 MONDO:0002616 True osteogenic neoplasm mesenchymal cell neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0045055 MONDO:0004993 True glycogen-rich carcinoma carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0045055 MONDO:0004993 True glycogen-rich carcinoma carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0045056 MONDO:0016642 True grade II meningioma meningioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0045059 MONDO:0004989 True cribriform carcinoma of breast breast carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0045057 MONDO:0002039 True delirium cognitive disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0045060 MONDO:0005023 True intraductal cribriform breast adenocarcinoma ductal breast carcinoma in situ UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0045063 MONDO:0003175 True major salivary gland adenoid cystic carcinoma salivary gland adenoid cystic carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0045063 MONDO:0006284 True major salivary gland adenoid cystic carcinoma major salivary gland carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -18052,62 +10403,61 @@ MONDO:0045069 MONDO:0021316 True minor salivary gland carcinoma malignant tumor MONDO:0045070 MONDO:0002516 True digestive system melanoma digestive system cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0045070 MONDO:0006320 True digestive system melanoma non-cutaneous melanoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0045071 MONDO:0000607 True mycosis fungoides variant primary cutaneous T-cell non-Hodgkin lymphoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0045072 MONDO:0021058 True ectopic hormone secretion syndrome associated with neoplasia neoplastic syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0049221 MONDO:0001384 True myopia 26, X-linked, female-limited myopia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0049222 MONDO:0019181 True intellectual disability, X-linked 107 non-syndromic X-linked intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0049222 MONDO:0019181 True intellectual disability, X-linked 107 non-syndromic X-linked intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS MONDO:0054550 MONDO:0012126 True avascular necrosis of femoral head, primary, 1 familial avascular necrosis of femoral head UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0054551 MONDO:0012126 True avascular necrosis of femoral head, primary, 2 familial avascular necrosis of femoral head UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0054559 MONDO:0005501 True congenital disorder of glycosylation, type IIq congenital disorder of glycosylation type II UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0054559 MONDO:0017750 True congenital disorder of glycosylation, type IIq defect in conserved oligomeric Golgi complex UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0054559 MONDO:0005501 True congenital disorder of glycosylation, type IIq congenital disorder of glycosylation type II UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS MONDO:0054560 MONDO:0011773 True anauxetic dysplasia 1 anauxetic dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0054561 MONDO:0011773 True anauxetic dysplasia 2 anauxetic dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0054561 MONDO:0011773 True anauxetic dysplasia 2 anauxetic dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS MONDO:0054565 MONDO:0018770 True short-rib thoracic dysplasia 17 with or without polydactyly Jeune syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0054577 MONDO:0000009 True bleeding disorder, platelet-type, 21 inherited bleeding disorder, platelet-type UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0054581 MONDO:0007142 True Townes-Brocks syndrome 1 Townes-Brocks syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0054582 MONDO:0007142 True Townes-Brocks syndrome 2 Townes-Brocks syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0054588 MONDO:0011899 True Noonan syndrome-like disorder with loose anagen hair 2 Noonan syndrome-like disorder with loose anagen hair UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0054588 MONDO:0011899 True Noonan syndrome-like disorder with loose anagen hair 2 Noonan syndrome-like disorder with loose anagen hair UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS MONDO:0054601 MONDO:0017824 True pituitary adenoma 5, multiple types familial isolated pituitary adenoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0054602 MONDO:0011810 True gaze palsy, familial horizontal, with progressive scoliosis, 2 horizontal gaze palsy with progressive scoliosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0054615 MONDO:0004983 True spermatogenic failure 18 spermatogenic failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0054636 MONDO:0015159 True Skraban-Deardorff syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0054637 MONDO:0011899 True Noonan syndrome-like disorder with loose anagen hair 1 Noonan syndrome-like disorder with loose anagen hair UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0054654 MONDO:0000732 True combined oxidative phosphorylation deficiency 32 combined oxidative phosphorylation deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0054615 MONDO:0004983 True spermatogenic failure 18 spermatogenic failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0054637 MONDO:0011899 True Noonan syndrome-like disorder with loose anagen hair 1 Noonan syndrome-like disorder with loose anagen hair UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0054654 MONDO:0000732 True combined oxidative phosphorylation deficiency 32 combined oxidative phosphorylation deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS MONDO:0054665 MONDO:0017824 True pituitary adenoma 3, multiple types familial isolated pituitary adenoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0054666 MONDO:0009299 True ovarian dysgenesis 5 46 XX gonadal dysgenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0054669 MONDO:0020135 True pontocerebellar hypoplasia, type 11 pontocerebellar hypoplasia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0054677 MONDO:0000732 True combined oxidative phosphorylation deficiency 33 combined oxidative phosphorylation deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0054680 MONDO:0016648 True epiphyseal dysplasia, multiple, 7 multiple epiphyseal dysplasia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0054691 MONDO:0015517 True immunodeficiency, common variable, 14 common variable immunodeficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0054695 MONDO:0018947 True myopathy, centronuclear, 6, with fiber-type disproportion centronuclear myopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0054666 MONDO:0009299 True ovarian dysgenesis 5 46 XX gonadal dysgenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0054669 MONDO:0020135 True pontocerebellar hypoplasia, type 11 pontocerebellar hypoplasia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0054677 MONDO:0000732 True combined oxidative phosphorylation deficiency 33 combined oxidative phosphorylation deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0054680 MONDO:0016648 True epiphyseal dysplasia, multiple, 7 multiple epiphyseal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0054691 MONDO:0015517 True immunodeficiency, common variable, 14 common variable immunodeficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0054695 MONDO:0018947 True myopathy, centronuclear, 6, with fiber-type disproportion centronuclear myopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS MONDO:0054696 MONDO:0021094 True immunodeficiency 53 immunodeficiency disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0054697 MONDO:0021094 True immunodeficiency 11b with atopic dermatitis immunodeficiency disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0054697 MONDO:0021094 True immunodeficiency 11b with atopic dermatitis immunodeficiency disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0054698 MONDO:0009726 True proteasome-associated autoinflammatory syndrome 1 proteosome-associated autoinflammatory syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0054699 MONDO:0009726 True proteasome-associated autoinflammatory syndrome 3 proteosome-associated autoinflammatory syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0054700 MONDO:0009726 True proteasome-associated autoinflammatory syndrome 2 proteosome-associated autoinflammatory syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0054701 MONDO:0012455 True Kleefstra syndrome 2 Kleefstra syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0054701 MONDO:0012455 True Kleefstra syndrome 2 Kleefstra syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS MONDO:0054708 MONDO:0019200 True retinitis pigmentosa 80 retinitis pigmentosa UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0054716 MONDO:0016660 True microcephaly 19, primary, autosomal recessive autosomal recessive primary microcephaly UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0054722 MONDO:0000127 True geleophysic dysplasia 3 geleophysic dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0054723 MONDO:0004983 True spermatogenic failure 19 spermatogenic failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0054724 MONDO:0004983 True spermatogenic failure 20 spermatogenic failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0054725 MONDO:0004983 True spermatogenic failure 21 spermatogenic failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0054726 MONDO:0004983 True spermatogenic failure 22 spermatogenic failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0054727 MONDO:0004983 True spermatogenic failure 23 spermatogenic failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0054728 MONDO:0004983 True spermatogenic failure 24 spermatogenic failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0054729 MONDO:0004983 True spermatogenic failure 25 spermatogenic failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0054730 MONDO:0004983 True spermatogenic failure 26 spermatogenic failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0054731 MONDO:0004983 True spermatogenic failure 27 spermatogenic failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0054732 MONDO:0004983 True spermatogenic failure 28 spermatogenic failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0054733 MONDO:0004983 True spermatogenic failure 29 spermatogenic failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0054736 MONDO:0000141 True mosaic variegated aneuploidy syndrome 3 mosaic variegated aneuploidy syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0054737 MONDO:0009046 True Fraser syndrome 1 Fraser syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0054738 MONDO:0009046 True Fraser syndrome 2 Fraser syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0054739 MONDO:0009046 True Fraser syndrome 3 Fraser syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0054740 MONDO:0007339 True blepharocheilodontic syndrome 1 blepharocheilodontic syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0054741 MONDO:0000732 True combined oxidative phosphorylation deficiency 34 combined oxidative phosphorylation deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0054742 MONDO:0000732 True combined oxidative phosphorylation deficiency 35 combined oxidative phosphorylation deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0054716 MONDO:0016660 True microcephaly 19, primary, autosomal recessive autosomal recessive primary microcephaly UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0054722 MONDO:0000127 True geleophysic dysplasia 3 geleophysic dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0054723 MONDO:0004983 True spermatogenic failure 19 spermatogenic failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0054724 MONDO:0004983 True spermatogenic failure 20 spermatogenic failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0054725 MONDO:0004983 True spermatogenic failure 21 spermatogenic failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0054726 MONDO:0004983 True spermatogenic failure 22 spermatogenic failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0054727 MONDO:0004983 True spermatogenic failure 23 spermatogenic failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0054728 MONDO:0004983 True spermatogenic failure 24 spermatogenic failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0054729 MONDO:0004983 True spermatogenic failure 25 spermatogenic failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0054730 MONDO:0004983 True spermatogenic failure 26 spermatogenic failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0054731 MONDO:0004983 True spermatogenic failure 27 spermatogenic failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0054732 MONDO:0004983 True spermatogenic failure 28 spermatogenic failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0054733 MONDO:0004983 True spermatogenic failure 29 spermatogenic failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0054736 MONDO:0000141 True mosaic variegated aneuploidy syndrome 3 mosaic variegated aneuploidy syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0054737 MONDO:0009046 True Fraser syndrome 1 Fraser syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0054738 MONDO:0009046 True Fraser syndrome 2 Fraser syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0054739 MONDO:0009046 True Fraser syndrome 3 Fraser syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0054740 MONDO:0007339 True blepharocheilodontic syndrome 1 blepharocheilodontic syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0054741 MONDO:0000732 True combined oxidative phosphorylation deficiency 34 combined oxidative phosphorylation deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0054742 MONDO:0000732 True combined oxidative phosphorylation deficiency 35 combined oxidative phosphorylation deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS MONDO:0054743 MONDO:0000447 True polycystic liver disease 3 with or without kidney cysts autosomal dominant polycystic liver disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0054748 MONDO:0019391 True Fanconi anemia, complementation group S Fanconi anemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0054752 MONDO:0017923 True multiple synostoses syndrome 4 multiple synostoses syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0054752 MONDO:0017923 True multiple synostoses syndrome 4 multiple synostoses syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS MONDO:0054761 MONDO:0016660 True microcephaly 20, primary, autosomal recessive autosomal recessive primary microcephaly UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0054763 MONDO:0018307 True neurodegeneration with brain iron accumulation 7 neurodegeneration with brain iron accumulation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0054764 MONDO:0018307 True neurodegeneration with brain iron accumulation 8 neurodegeneration with brain iron accumulation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING @@ -18115,44 +10465,38 @@ MONDO:0054765 MONDO:0007101 True amyloidosis, primary localized cutaneous, 3 fam MONDO:0054770 MONDO:0015375 True orofaciodigital syndrome 18 orofaciodigital syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0054771 MONDO:0015486 True keratoconus 9 keratoconus UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0054776 MONDO:0020310 True epilepsy, familial focal, with variable foci 4 familial focal epilepsy with variable foci UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0054781 MONDO:0000732 True combined oxidative phosphorylation deficiency 36 combined oxidative phosphorylation deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0054782 MONDO:0019046 True leukodystrophy, hypomyelinating, 15 leukodystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0054785 MONDO:0017338 True multiple mitochondrial dysfunctions syndrome 6 fatal multiple mitochondrial dysfunctions syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0054791 MONDO:0019046 True leukodystrophy, hypomyelinating, 16 leukodystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0054781 MONDO:0000732 True combined oxidative phosphorylation deficiency 36 combined oxidative phosphorylation deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0054782 MONDO:0019046 True leukodystrophy, hypomyelinating, 15 leukodystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0054785 MONDO:0017338 True multiple mitochondrial dysfunctions syndrome 6 fatal multiple mitochondrial dysfunctions syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0054791 MONDO:0019046 True leukodystrophy, hypomyelinating, 16 leukodystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS MONDO:0054794 MONDO:0016349 True hydrocephalus, congenital, 3, with brain anomalies congenital hydrocephalus UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0054801 MONDO:0001115 True erythrocytosis, familial, 6 familial polycythemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0054802 MONDO:0001115 True erythrocytosis, familial, 7 familial polycythemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0054801 MONDO:0001115 True erythrocytosis, familial, 6 familial polycythemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0054802 MONDO:0001115 True erythrocytosis, familial, 7 familial polycythemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS MONDO:0054804 MONDO:0016660 True microcephaly 21, primary, autosomal recessive autosomal recessive primary microcephaly UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0054805 MONDO:0016660 True microcephaly 22, primary, autosomal recessive autosomal recessive primary microcephaly UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0054806 MONDO:0016660 True microcephaly 23, primary, autosomal recessive autosomal recessive primary microcephaly UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0054813 MONDO:0006025 True Ehlers-Danlos syndrome, classic-like, 2 autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0054813 MONDO:0020066 True Ehlers-Danlos syndrome, classic-like, 2 Ehlers-Danlos syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0054817 MONDO:0019046 True leukodystrophy, hypomyelinating, 17 leukodystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0054831 MONDO:0015452 True Coffin-Siris syndrome 7 Coffin-Siris syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0054832 MONDO:0020364 True corneal dystrophy, posterior polymorphous, 4 posterior polymorphous corneal dystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0054833 MONDO:0000426 True charcot-marie-tooth disease, axonal, type 2DD autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0054833 MONDO:0018993 True charcot-marie-tooth disease, axonal, type 2DD Charcot-Marie-Tooth disease type 2 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0054813 MONDO:0020066 True Ehlers-Danlos syndrome, classic-like, 2 Ehlers-Danlos syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0054817 MONDO:0019046 True leukodystrophy, hypomyelinating, 17 leukodystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0054831 MONDO:0015452 True Coffin-Siris syndrome 7 Coffin-Siris syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0054832 MONDO:0020364 True corneal dystrophy, posterior polymorphous, 4 posterior polymorphous corneal dystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS MONDO:0054835 MONDO:0013150 True classic dopamine transporter deficiency syndrome parkinsonism-dystonia, infantile UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0054836 MONDO:0013150 True parkinsonism-dystonia, infantile, 2 parkinsonism-dystonia, infantile UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0054838 MONDO:0024573 True cardiomyopathy, familial hypertrophic 27 familial hypertrophic cardiomyopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0054843 MONDO:0016575 True ciliary dyskinesia, primary, 38 primary ciliary dyskinesia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0054844 MONDO:0020135 True pontocerebellar hypoplasia, type 1D pontocerebellar hypoplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0054845 MONDO:0100062 True developmental and epileptic encephalopathy, 66 developmental and epileptic encephalopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0054846 MONDO:0000160 True epilepsy, familial adult myoclonic, 6 epilepsy, familial adult myoclonic UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0054847 MONDO:0000160 True epilepsy, familial adult myoclonic, 7 epilepsy, familial adult myoclonic UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0054849 MONDO:0005265 True inflammatory bowel disease 29 inflammatory bowel disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0054850 MONDO:0009299 True ovarian dysgenesis 6 46 XX gonadal dysgenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0054843 MONDO:0016575 True ciliary dyskinesia, primary, 38 primary ciliary dyskinesia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0054844 MONDO:0020135 True pontocerebellar hypoplasia, type 1D pontocerebellar hypoplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0054845 MONDO:0100062 True developmental and epileptic encephalopathy, 66 developmental and epileptic encephalopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0054846 MONDO:0000160 True epilepsy, familial adult myoclonic, 6 epilepsy, familial adult myoclonic UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0054847 MONDO:0000160 True epilepsy, familial adult myoclonic, 7 epilepsy, familial adult myoclonic UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0054849 MONDO:0005265 True inflammatory bowel disease 29 inflammatory bowel disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0054850 MONDO:0009299 True ovarian dysgenesis 6 46 XX gonadal dysgenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS MONDO:0054852 MONDO:0019347 True peeling skin syndrome 6 peeling skin syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0054860 MONDO:0019588 True hearing loss, autosomal recessive 110 hearing loss, autosomal recessive UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0054861 MONDO:0019502 True intellectual disability, autosomal recessive 63 autosomal recessive non-syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0054860 MONDO:0019588 True hearing loss, autosomal recessive 110 hearing loss, autosomal recessive UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0054861 MONDO:0019502 True intellectual disability, autosomal recessive 63 autosomal recessive non-syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS MONDO:0054862 MONDO:0019852 True premature ovarian failure 15 inherited primary ovarian failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0054865 MONDO:0016387 True encephalopathy due to mitochondrial and peroxisomal fission defect mitochondrial oxidative phosphorylation disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0056795 MONDO:0010595 True X-linked spermatogenic failure 1 Sertoli cell-only syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0056796 MONDO:0005240 True obstructive nephropathy kidney disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0056804 MONDO:0000628 True benign neoplasm of peripheral nervous system central nervous system organ benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0054868 MONDO:0004567 True meconium ileus ileus UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0056796 MONDO:0005240 True obstructive nephropathy kidney disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0056805 MONDO:0003250 True benign peripheral nerve granular cell tumor benign granular cell tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0056806 MONDO:0005097 True non-small cell squamous lung carcinoma squamous cell lung carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0056806 MONDO:0005233 True non-small cell squamous lung carcinoma non-small cell lung carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0056806 MONDO:0005233 True non-small cell squamous lung carcinoma non-small cell lung carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0056813 MONDO:0004989 True hormone-resistant breast carcinoma breast carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0056814 MONDO:0005159 True hormone-resistant prostate carcinoma prostate carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0056815 MONDO:0006074 True liver adenosquamous carcinoma adenosquamous carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -18163,145 +10507,112 @@ MONDO:0056818 MONDO:0006074 True skin adenosquamous carcinoma adenosquamous carc MONDO:0056819 MONDO:0002038 True nasal cavity and paranasal sinus carcinoma head and neck carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0056819 MONDO:0056820 True nasal cavity and paranasal sinus carcinoma nasal cavity and paranasal sinus neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0056820 MONDO:0005586 True nasal cavity and paranasal sinus neoplasm head and neck neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0060455 MONDO:0000425 True X-linked congenital hemolytic anemia X-linked disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0060455 MONDO:0003689 True X-linked congenital hemolytic anemia familial hemolytic anemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0060486 MONDO:0015168 True arthrogryposis multiplex congenita 1, neurogenic, with myelin defect arthrogryposis multiplex congenita UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0060489 MONDO:0100249 True 46,XX sex reversal 4 46,XX testicular disorder of sex development UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0060502 MONDO:0015159 True neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0060549 MONDO:0003847 True congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0060486 MONDO:0015168 True arthrogryposis multiplex congenita 1, neurogenic, with myelin defect arthrogryposis multiplex congenita UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS MONDO:0060554 MONDO:0020831 True vertebral, cardiac, renal, and limb defects syndrome 1 congenital vertebral-cardiac-renal anomalies syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0060555 MONDO:0020831 True vertebral, cardiac, renal, and limb defects syndrome 2 congenital vertebral-cardiac-renal anomalies syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0060556 MONDO:0019755 True joint laxity, short stature, and myopia developmental defect during embryogenesis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0060564 MONDO:0015962 True HELIX syndrome inherited renal tubular disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0060568 MONDO:0015159 True Pilarowski-Bjornsson syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0060583 MONDO:0003847 True platelet abnormalities with eosinophilia and immune-mediated inflammatory disease hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0060585 MONDO:0015362 True neuronopathy, distal hereditary motor, type 9 neuronopathy, distal hereditary motor, autosomal dominant UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0060592 MONDO:0002254 True Sweeney-Cox syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0060592 MONDO:0003847 True Sweeney-Cox syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0060627 MONDO:0015159 True glycosylphosphatidylinositol biosynthesis defect 15 multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0060631 MONDO:0002254 True Alkuraya-Kucinskas syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0060631 MONDO:0003847 True Alkuraya-Kucinskas syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0060732 MONDO:0010110 True tetraamelia syndrome 2 tetraamelia-multiple malformations syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0060764 MONDO:0010110 True tetraamelia syndrome 1 tetraamelia-multiple malformations syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0100036 MONDO:0005027 True variable age onset epilepsy epilepsy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0060765 MONDO:0005079 True fibroepithelial polyp polyp UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0060766 MONDO:0002519 True anal polyp anus disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0060766 MONDO:0024292 True anal polyp gastrointestinal polyp UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0060768 MONDO:0003396 True gingival fibroepithelial polyp epulis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0060768 MONDO:0060765 True gingival fibroepithelial polyp fibroepithelial polyp UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0060774 MONDO:0021394 True vaginal fibroepithelial polyp polyp of vagina UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0060774 MONDO:0060765 True vaginal fibroepithelial polyp fibroepithelial polyp UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0060777 MONDO:0000751 True cervical fibroepithelial polyp cervical polyp UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0060777 MONDO:0060765 True cervical fibroepithelial polyp fibroepithelial polyp UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0060778 MONDO:0001083 True adult Fanconi syndrome Fanconi renotubular syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0060779 MONDO:0001083 True acquired Fanconi syndrome Fanconi renotubular syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0060782 MONDO:0005570 True premalignant hematological system disease hematologic disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0060782 MONDO:0021074 True premalignant hematological system disease precancerous condition UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0060783 MONDO:0018479 True classic congenital adrenal hyperplasia congenital adrenal hyperplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0100045 MONDO:0100043 True epidermodysplasia verruciformis, susceptibility to, 1 epidermodysplasia verruciformis, susceptibility to UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0100053 MONDO:0000605 True anaphylaxis hypersensitivity reaction disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0100055 MONDO:0002581 True intraosseous spindle cell rhabdomyosarcoma with TFCP2/NCOA2 rearrangements spindle cell rhabdomyosarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0100060 MONDO:0002581 True congenital/infantile spindle cell rhabdomyosarcoma with VGLL2/NCOA2/CITED2 rearrangements spindle cell rhabdomyosarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0100063 MONDO:0002604 True Pericytoma with t(7;12) pericytic neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0100067 MONDO:0002581 True childhood spindle cell rhabdomyosarcoma spindle cell rhabdomyosarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0100079 MONDO:0100062 True developmental and epileptic encephalopathy, 6 developmental and epileptic encephalopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0100082 MONDO:0007893 True LEOPARD syndrome 1 Noonan syndrome with multiple lentigines UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0100082 MONDO:0007893 True LEOPARD syndrome 1 Noonan syndrome with multiple lentigines UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS MONDO:0100092 MONDO:0013981 True myoclonus, familial, 2 myoclonus, familial UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0100093 MONDO:0013981 True myoclonus, familial, 1 myoclonus, familial UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0100095 MONDO:0006025 True neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0100096 MONDO:0020753 True COVID-19 Orthocoronavirinae infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0100101 MONDO:0008824 True fetal akinesia deformation sequence 1 fetal akinesia deformation sequence UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0100102 MONDO:0008824 True fetal akinesia deformation sequence 2 fetal akinesia deformation sequence UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0100103 MONDO:0008824 True fetal akinesia deformation sequence 3 fetal akinesia deformation sequence UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0100104 MONDO:0008824 True fetal akinesia deformation sequence 4 fetal akinesia deformation sequence UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0100105 MONDO:0020496 True brain small vessel disease 3 familial porencephaly UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0100115 MONDO:0002565 True acute flaccid myelitis myelitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0100116 MONDO:0020753 True Middle East respiratory syndrome Orthocoronavirinae infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0100119 MONDO:0800166 True Knobloch syndrome 2 Knobloch syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0100135 MONDO:0100062 True Dravet syndrome developmental and epileptic encephalopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0100153 MONDO:0005071 True tubulinopathy nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0100101 MONDO:0008824 True fetal akinesia deformation sequence 1 fetal akinesia deformation sequence UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0100102 MONDO:0008824 True fetal akinesia deformation sequence 2 fetal akinesia deformation sequence UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0100103 MONDO:0008824 True fetal akinesia deformation sequence 3 fetal akinesia deformation sequence UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0100104 MONDO:0008824 True fetal akinesia deformation sequence 4 fetal akinesia deformation sequence UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0100105 MONDO:0020496 True brain small vessel disease 3 familial porencephaly UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0100115 MONDO:0002565 True acute flaccid myelitis myelitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0100151 MONDO:0016239 True nephropathic cystinosis cystinosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0100156 MONDO:0009853 True Imerslund-Grasbeck syndrome type 1 Imerslund-Grasbeck syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0100157 MONDO:0009853 True Imerslund-Grasbeck syndrome type 2 Imerslund-Grasbeck syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0100163 MONDO:0005108 True COVID-19–associated multisystem inflammatory syndrome in children viral infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0100164 MONDO:0016391 True permanent neonatal diabetes mellitus neonatal diabetes mellitus UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0100164 MONDO:0016391 True permanent neonatal diabetes mellitus neonatal diabetes mellitus UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0100165 MONDO:0100164 True permanent neonatal diabetes mellitus 1 permanent neonatal diabetes mellitus UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0100186 MONDO:0016543 True GTP cyclohydrolase I deficiency with hyperphenylalaninemia hyperphenylalaninemia due to tetrahydrobiopterin deficiency UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0100211 MONDO:0006025 True growth hormone insensitivity with immune dysregulation 1, autosomal recessive autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0100192 MONDO:0005154 True liver failure liver disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0100211 MONDO:0100210 True growth hormone insensitivity with immune dysregulation 1, autosomal recessive growth hormone insensitivity syndrome with immune dysregulation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0100213 MONDO:0020605 True IFAP syndrome with or without BRESHECK syndrome X-linked recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0100213 MONDO:0100212 True IFAP syndrome with or without BRESHECK syndrome IFAP syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0100213 MONDO:0100212 True IFAP syndrome 1, with or without BRESHECK syndrome IFAP syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0100215 MONDO:0100214 True Rajab interstitial lung disease with brain calcifications 1 Rajab interstitial lung disease with brain calcifications UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0100216 MONDO:0002254 True DICER1-related tumor predisposition syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0100216 MONDO:0003847 True DICER1-related tumor predisposition hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0100217 MONDO:0031632 True developmental delay with short stature, dysmorphic facial features, and sparse hair 2 developmental delay with short stature, dysmorphic facial features, and sparse hair UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0100218 MONDO:0015168 True arthrogryposis multiplex congenita 5 arthrogryposis multiplex congenita UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0100216 MONDO:0002254 True DICER1-related tumor predisposition syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0100218 MONDO:0015168 True arthrogryposis multiplex congenita 5 arthrogryposis multiplex congenita UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS MONDO:0100219 MONDO:0100210 True growth hormone insensitivity syndrome with immune dysregulation 2, autosomal dominant growth hormone insensitivity syndrome with immune dysregulation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0100220 MONDO:0100214 True Rajab interstitial lung disease with brain calcifications 2 Rajab interstitial lung disease with brain calcifications UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0100221 MONDO:0100212 True IFAP syndrome 2 IFAP syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0100223 MONDO:0100133 True mitochondrial complex I deficiency, nuclear type mitochondrial complex I deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0100224 MONDO:0100223 True mitochondrial complex I deficiency, nuclear type 1 mitochondrial complex I deficiency, nuclear type UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0100244 MONDO:0003656 True paroxysmal nocturnal hemoglobinuria hemoglobinuria UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0100244 MONDO:0015610 True paroxysmal nocturnal hemoglobinuria acquired aplastic anemia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0100247 MONDO:0003847 True multiple congenital anomalies-hypotonia-seizures syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0100249 MONDO:0017576 True 46,XX testicular disorder of sex development 46,XX disorder of sex development UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0100250 MONDO:0003847 True 46,XX sex reversal 1 hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0100250 MONDO:0100249 True 46,XX sex reversal 1 46,XX testicular disorder of sex development UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0100251 MONDO:0018891 True familial hyperphosphatemic tumoral calcinosis/hyperphosphatemic hyperostosis syndrome familial tumoral calcinosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0100251 MONDO:0019052 True familial hyperphosphatemic tumoral calcinosis/hyperphosphatemic hyperostosis syndrome inborn errors of metabolism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0100253 MONDO:0002254 True Roberts-SC phocomelia syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0100253 MONDO:0006025 True Roberts-SC phocomelia syndrome autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0100255 MONDO:0000351 True adenosine kinase deficiency disorder of methionine catabolism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0100224 MONDO:0100223 True mitochondrial complex I deficiency, nuclear type 1 mitochondrial complex I deficiency, nuclear type UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0100250 MONDO:0100249 True 46,XX sex reversal 1 46,XX testicular disorder of sex development UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0100251 MONDO:0019052 True familial hyperphosphatemic tumoral calcinosis/hyperphosphatemic hyperostosis syndrome inborn errors of metabolism UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0100253 MONDO:0002254 True Roberts-SC phocomelia syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0100280 MONDO:0000432 True Waldenstrom macroglobulinemia lymphoplasmacytic lymphoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0100280 MONDO:0017594 True Waldenstrom macroglobulinemia indolent B-cell non-Hodgkin lymphoma UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0100280 MONDO:0017594 True Waldenstrom macroglobulinemia indolent B-cell non-Hodgkin lymphoma UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0100281 MONDO:0100280 True macroglobulinemia, Waldenstrom, 1 Waldenstrom macroglobulinemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0100285 MONDO:0008867 True extrahepatic biliary atresia biliary atresia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0100290 MONDO:0015524 True colon serrated polyposis hyperplastic polyposis syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0100290 MONDO:0021400 True colon serrated polyposis polyp of colon UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0100291 MONDO:0004963 True early T cell progenitor acute lymphoblastic leukemia T-cell acute lymphoblastic leukemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0100292 MONDO:0031415 True Carey-Fineman-Ziter syndrome 2 Carey-Fineman-Ziter syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0100294 MONDO:0031230 True mitochondrial complex II deficiency, nuclear type 1 mitochondrial complex II deficiency, nuclear type UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0100296 MONDO:0031421 True Olmsted syndrome 1 Olmsted syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0100296 MONDO:0031421 True Olmsted syndrome 1 Olmsted syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS MONDO:0100297 MONDO:0031439 True short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies 1 short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0100302 MONDO:0007872 True LADD syndrome 1 LADD syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0100303 MONDO:0011870 True ichthyosis, annular epidermolytic 1 annular epidermolytic ichthyosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0100313 MONDO:0000490 True focal segmental glomerulosclerosis glomerulosclerosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0100316 MONDO:0019171 True long QT syndrome 1 familial long QT syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0100325 MONDO:0031169 True odontochondrodysplasia 1 odontochondrodysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0100326 MONDO:0021181 True Glanzmann thrombasthenia inherited blood coagulation disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0100338 MONDO:0002118 True urinary tract infection urinary system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0100338 MONDO:0005550 True urinary tract infection infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0100340 MONDO:0100339 True Friedreich ataxia 1 Friedreich ataxia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0100342 MONDO:0002714 True malignant glioma central nervous system cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0100342 MONDO:0021042 True malignant glioma glioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0100344 MONDO:0015231 True Bartter disease type 1 Bartter syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0100345 MONDO:0019214 True lactose intolerance inborn carbohydrate metabolic disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0100349 MONDO:0015369 True COACH syndrome Joubert syndrome and related disorders UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0100350 MONDO:0015362 True neuronopathy, distal hereditary motor, type 5 neuronopathy, distal hereditary motor, autosomal dominant UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0100344 MONDO:0015231 True Bartter disease type 1 Bartter syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0100345 MONDO:0019214 True lactose intolerance inborn carbohydrate metabolic disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0100345 MONDO:0020598 True lactose intolerance malabsorption syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0100347 MONDO:0002254 True carcinoid syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0100352 MONDO:0044202 True episodic kinesigenic dyskinesia 1 episodic kinesigenic dyskinesia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0100354 MONDO:0025986 True megacystis-microcolon-intestinal hypoperistalsis syndrome 1 megacystis-microcolon-intestinal hypoperistalsis syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0100367 MONDO:0019755 True port-wine nevi-mega cisterna magna-hydrocephalus syndrome developmental defect during embryogenesis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0100373 MONDO:0018874 True acute myeloid leukemia, inv(16)(p13.1;q22) acute myeloid leukemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0100374 MONDO:0018874 True acute myeloid leukemia, t(16;16)(p13.1;q22) acute myeloid leukemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0100375 MONDO:0018874 True acute myeloid leukemia, t(15;17)(q24;q21) acute myeloid leukemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0100377 MONDO:0018874 True acute myeloid leukemia, t(10;11)(p12;q23) acute myeloid leukemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0100381 MONDO:0018874 True acute myeloid leukemia, t(6;11)(q27;q23) acute myeloid leukemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0100382 MONDO:0018874 True acute myeloid leukemia, t(6;9)(p23;q34.1) acute myeloid leukemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0100382 MONDO:0018874 True acute myeloid leukemia, t(6;9)(p23;q34.1) acute myeloid leukemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0100389 MONDO:0018874 True acute myeloid leukemia, Trisomy 8 acute myeloid leukemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0100395 MONDO:0018874 True acute myeloid leukemia, t(5;11)(q35;p15) acute myeloid leukemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0100396 MONDO:0018874 True acute myeloid leukemia, t(7;12)(q36;p13) acute myeloid leukemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0100398 MONDO:0018874 True acute myeloid leukemia, inv(3)(q21.3;q26.2) acute myeloid leukemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0100399 MONDO:0018874 True acute myeloid leukemia, t(3;3)(q21.3;q26.2) acute myeloid leukemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0100404 MONDO:0018874 True acute myeloid leukemia, MLL gene rearrangement acute myeloid leukemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0100404 MONDO:0018874 True acute myeloid leukemia, MLL gene rearrangement acute myeloid leukemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0100407 MONDO:0018874 True acute myeloid leukemia, t(11;15)(p15;q35) acute myeloid leukemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0100409 MONDO:0018874 True acute myeloid leukemia, t(3;5)(q25;q34) acute myeloid leukemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0100413 MONDO:0018874 True acute myeloid leukemia, biallelic CEBPA gene mutation acute myeloid leukemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0100409 MONDO:0018874 True acute myeloid leukemia, t(3;5)(q25;q34) acute myeloid leukemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0100414 MONDO:0018874 True acute myeloid leukemia, CEBPA gene mutation acute myeloid leukemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0100415 MONDO:0018874 True acute myeloid leukemia, FLT3 internal tandem duplication acute myeloid leukemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0100422 MONDO:0018874 True acute myeloid leukemia, RUNX1 gene mutation acute myeloid leukemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0100428 MONDO:0008890 True progressive bulbar palsy of childhood progressive bulbar palsy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0100429 MONDO:0019072 True intrahepatic cholestasis of pregnancy intrahepatic cholestasis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0100431 MONDO:0005277 True migraine without aura migraine disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0100436 MONDO:0005129 True cataract 2, multiple types cataract UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0100452 MONDO:0000426 True RPE65-related dominant retinopathy autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0100459 MONDO:0005372 True azoospermia male infertility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0100462 MONDO:0018383 True short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans osteonecrosis of genetic origin UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0100466 MONDO:0018973 True butterfly-shaped pigment dystrophy patterned dystrophy of the retinal pigment epithelium UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0100422 MONDO:0018874 True acute myeloid leukemia, RUNX1 gene mutation acute myeloid leukemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0100431 MONDO:0005277 True migraine without aura migraine disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0100436 MONDO:0005129 True cataract 2, multiple types cataract UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS MONDO:0100467 MONDO:0005081 True preeclampsia/eclampsia 1 preeclampsia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0100480 MONDO:0015129 True autoimmune primary adrenal insufficiency chronic primary adrenal insufficiency UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0100470 MONDO:0005087 True reactive airway disease respiratory system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0100471 MONDO:0024298 True vitamin D deficiency vitamin deficiency disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0100480 MONDO:0015129 True autoimmune primary adrenal insufficiency chronic primary adrenal insufficiency UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0100490 MONDO:0015855 True breasts and/or nipples, aplasia or hypoplasia of, 1 isolated congenital breast hypoplasia/aplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0100510 MONDO:0005516 True spondyloepimetaphyseal dysplasia osteochondrodysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0100512 MONDO:0018158 True mitochondrial DNA depletion syndrome, hepatocerebral form mitochondrial DNA depletion syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0100492 MONDO:0002254 True Bonnevie-Ullrich syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0100505 MONDO:0002406 True food dermatitis dermatitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0100514 MONDO:0005140 True familial ovarian carcinoma ovarian carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0100527 MONDO:0016357 True dysplastic cortical hyperostosis, Kozlowski-Tsuruta type dysplastic cortical hyperostosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0100528 MONDO:0014805 True Hao-Fountain syndrome due to 16p13.2 microdeletion Hao-Fountain syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0200000 MONDO:0003612 True uterine ligament adenosarcoma uterine ligament cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0600030 MONDO:0004947 True B-cell acute lymphoblastic leukemia with t(1;19)(q23;p13.3); E2A-PBX1 (TCF3-PBX1) B-cell acute lymphoblastic leukemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0700042 MONDO:0017905 True X-linked mendelian susceptibility to mycobacterial diseases due to IKBKG deficiency X-linked Mendelian susceptibility to mycobacterial diseases UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0700088 MONDO:0015427 True paroxysmal nonkinesigenic dyskinesia paroxysmal dyskinesia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0600029 MONDO:0005275 True restrictive pulmonary disease lung disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0600030 MONDO:0004947 True B-cell acute lymphoblastic leukemia with t(1;19)(q23;p13.3); E2A-PBX1 (TCF3-PBX1) B-cell acute lymphoblastic leukemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0700048 MONDO:0002254 True hand-foot syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0700051 MONDO:0005154 True liver abscess (disease) liver disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0700051 MONDO:0005227 True liver abscess (disease) abscess UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0700051 MONDO:0043424 True liver abscess (disease) digestive system infectious disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0700058 MONDO:0002173 True Morton neuroma neuroma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0700092 MONDO:0005071 True neurodevelopmental disorder nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0700112 MONDO:0018677 True heterotaxy, visceral, 5, autosomal visceral heterotaxy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0700135 MONDO:0700134 True bovine leukemia bovine neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0700136 MONDO:0700134 True bovine protoporphyria bovine neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -18311,7 +10622,6 @@ MONDO:0700141 MONDO:0700139 True canine melanoma canine neoplasm UNSUPPORTED-MIS MONDO:0700143 MONDO:0700139 True canine mammary carcinoma canine neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0700144 MONDO:0700139 True canine leukemia canine neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0700145 MONDO:0700139 True canine lymphoma canine neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0700146 MONDO:0700139 True canine prostate carcinoma canine neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0700147 MONDO:0700139 True canine histiocytic sarcoma canine neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0700148 MONDO:0700139 True canine transitional cell carcinoma canine neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0700149 MONDO:0700139 True canine sarcoma canine neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -18335,408 +10645,42 @@ MONDO:0700191 MONDO:0700189 True chicken fibrosarcoma chicken neoplasm UNSUPPORT MONDO:0700192 MONDO:0700189 True chicken hepatoma chicken neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0700193 MONDO:0700189 True chicken monocytic leukemia chicken neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0700194 MONDO:0700189 True chicken lymphoma chicken neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0700218 MONDO:0021680 True group B streptococcal infection streptococcal infection UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0700219 MONDO:0024880 True neoplastic meningitis metastatic malignant neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0700226 MONDO:0005271 True food allergy allergic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0800025 MONDO:0030639 True Teebi hypertelorism syndrome 1 Teebi hypertelorism syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0800026 MONDO:0001292 True central hypoventilation syndrome, congenital, 1, with or without Hirschsprung disease autonomic nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0800025 MONDO:0030639 True Teebi hypertelorism syndrome 1 Teebi hypertelorism syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0800026 MONDO:0002254 True central hypoventilation syndrome, congenital, 1, with or without Hirschsprung disease syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0800026 MONDO:0800031 True central hypoventilation syndrome, congenital, 1, with or without Hirschsprung disease central hypoventilation syndrome, congenital UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0800027 MONDO:0019046 True leukoencephalopathy, diffuse hereditary, with spheroids 1 leukodystrophy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED MONDO:0800027 MONDO:0030796 True leukoencephalopathy, diffuse hereditary, with spheroids 1 leukoencephalopathy, hereditary diffuse, with spheroids UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0800028 MONDO:0031115 True dyskinesia with orofacial involvement, autosomal dominant dyskinesia with orofacial involvement UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0800029 MONDO:0002429 True interstitial lung disease 2 idiopathic interstitial pneumonia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0800029 MONDO:0002771 True interstitial lung disease 2 pulmonary fibrosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0800029 MONDO:0002771 True interstitial lung disease 2 pulmonary fibrosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0800029 MONDO:0031199 True interstitial lung disease 2 inherited interstitial lung disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0800030 MONDO:0030831 True gastrointestinal defects and immunodeficiency syndrome 1 gastrointestinal defect and immunodeficiency syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0800042 MONDO:0021106 True restrictive dermopathy 1 laminopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0800042 MONDO:0031213 True restrictive dermopathy 1 restrictive dermopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0800043 MONDO:0019698 True Stüve-Wiedemann syndrome 1 bent bone dysplasia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0800042 MONDO:0031213 True restrictive dermopathy 1 restrictive dermopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS MONDO:0800043 MONDO:0031280 True Stüve-Wiedemann syndrome 1 Stuve-Wiedemann syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0800044 MONDO:0019214 True congenital disorder of deglycosylation 1 inborn carbohydrate metabolic disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0800044 MONDO:0031376 True congenital disorder of deglycosylation 1 congenital disorder of deglycosylation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0800045 MONDO:0031384 True autoinflammatory syndrome, familial, Behcet-like 1 autoinflammatory syndrome, familial, Behcet-like UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0800046 MONDO:0031432 True thyroid hormone metabolism, abnormal 1 thyroid hormone metabolism, abnormal UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0800047 MONDO:0031447 True macrothrombocytopenia, isolated, 1, autosomal dominant macrothrombocytopenia, isolated UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0800104 MONDO:0031520 True immunodeficiency 105 familial severe combined immunodeficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0800131 MONDO:0018037 True hyper-IgE recurrent infection syndrome 4A, autosomal dominant hyper-IgE syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0800167 MONDO:0800166 True Knobloch syndrome 1 Knobloch syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0800341 MONDO:0019952 True congenital myopathy 4A, autosomal dominant congenital myopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0800366 MONDO:0015780 True dyskeratosis congenita, autosomal dominant 4 dyskeratosis congenita UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0800372 MONDO:0018772 True Joubert syndrome 29 Joubert syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0800436 MONDO:0031329 True craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development 1 craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0800437 MONDO:0031415 True Carey-Fineman-Ziter syndrome 1 Carey-Fineman-Ziter syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0800438 MONDO:0031632 True developmental delay with short stature, dysmorphic facial features, and sparse hair 1 developmental delay with short stature, dysmorphic facial features, and sparse hair UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0800445 MONDO:0800444 True Birt-Hogg-Dube syndrome 1 Birt-Hogg-Dube syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0800448 MONDO:0019046 True leukoencephalopathy with vanishing white matter leukodystrophy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED -MONDO:0800449 MONDO:0019245 True lysosomal acid lipase deficiency lysosomal lipid storage disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0800455 MONDO:0800444 True Birt-Hogg-Dube syndrome 2 Birt-Hogg-Dube syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0850001 MONDO:0016295 True congenital neuronal ceroid lipofuscinosis neuronal ceroid lipofuscinosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0850053 MONDO:0019751 True F12-associated cold autoinflammatory syndrome autoinflammatory syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0850064 MONDO:0015356 True inherited hematologic cancer-predisposing syndrome hereditary neoplastic syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0850065 MONDO:0019751 True neonatal-onset severe multisystemic autoinflammatory disease with increased IL18 autoinflammatory syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0850066 MONDO:0019751 True SAMD9L-associated autoinflammatory syndrome autoinflammatory syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0850072 MONDO:0015337 True non-syndromic unisutural craniosynostosis isolated craniosynostosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0850073 MONDO:0015469 True non-syndromic unicoronal craniosynostosis craniosynostosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0850074 MONDO:0015469 True non-syndromic unilambdoid craniosynostosis craniosynostosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0850075 MONDO:0015469 True non-syndromic unifrontosphenoidal craniosynostosis craniosynostosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0850076 MONDO:0015469 True non-syndromic unisquamosal craniosynostosis craniosynostosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0850077 MONDO:0015469 True non-syndromic multisutural craniosynostosis craniosynostosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0850078 MONDO:0015469 True non-syndromic non-specific multisutural craniosynostosis craniosynostosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0850079 MONDO:0015469 True non-syndromic bilambdoid craniosynostosis craniosynostosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0850080 MONDO:0015469 True non-syndromic unicoronal and sagittal craniosynostosis craniosynostosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0850081 MONDO:0015469 True non-syndromic metopic and sagittal craniosynostosis craniosynostosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0850082 MONDO:0015469 True non-syndromic bicoronal and metopic craniosynostosis craniosynostosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0850083 MONDO:0015469 True non-syndromic bicoronal and sagittal craniosynostosis craniosynostosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0850092 MONDO:0002254 True post-cardiac arrest syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0850093 MONDO:0000411 True absence epilepsy electroclinical syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0850097 MONDO:0020640 True autoimmune limbic encephalitis autoimmune encephalitis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0850098 MONDO:0005372 True oligoasthenoteratozoospermia male infertility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0850101 MONDO:0005012 True spitzoid melanoma cutaneous melanoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0850104 MONDO:0019956 True paraneoplastic isolated brainstem encephalitis encephalitis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0850110 MONDO:0005012 True melanoma in congenital melanocytic nevus cutaneous melanoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0850112 MONDO:0000430 True breast implant-associated anaplastic large cell lymphoma mature T-cell and NK-cell non-Hodgkin lymphoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0850122 MONDO:0005061 True solid adenocarcinoma with mucin production lung adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0850123 MONDO:0056804 True autonomic nervous system benign neoplasm benign neoplasm of peripheral nervous system UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0850125 MONDO:0004992 True malignant adenoma cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0850127 MONDO:0015798 True epithelioid inflammatory myofibroblastic sarcoma inflammatory myofibroblastic tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0850128 MONDO:0003150 True epididymis disease male reproductive system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0850129 MONDO:0002516 True gastroesophageal cancer digestive system cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0850130 MONDO:0004970 True gastroesophageal adenocarcinoma adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0850144 MONDO:0005165 True germ cell benign neoplasm benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0850149 MONDO:0002513 True nephroma kidney benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0850150 MONDO:0005240 True kidney cortex disease kidney disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0850151 MONDO:0001082 True lymph node carcinoma lymph node cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0850151 MONDO:0004993 True lymph node carcinoma carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0850152 MONDO:0000633 True auditory system benign neoplasm sensory organ benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0850152 MONDO:0002409 True auditory system benign neoplasm auditory system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0850154 MONDO:0004631 True tongue carcinoma tongue cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0850156 MONDO:0004947 True B-lymphoblastic leukemia/lymphoma MLL rearranged B-cell acute lymphoblastic leukemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0850157 MONDO:0004947 True B-lymphoblastic leukemia/lymphoma with ETV6-RUNX1 B-cell acute lymphoblastic leukemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0850160 MONDO:0004947 True B-lymphoblastic leukemia/lymphoma with IL3-IGH B-cell acute lymphoblastic leukemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0850161 MONDO:0004947 True B-lymphoblastic leukemia/lymphoma, BCR-ABL1–like B-cell acute lymphoblastic leukemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0850162 MONDO:0004947 True B-lymphoblastic leukemia/lymphoma with IAMP21 B-cell acute lymphoblastic leukemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0850170 MONDO:0001516 True spinal muscular atrophy type 0 spinal muscular atrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0850196 MONDO:0007959 True medulloblastoma WNT activated medulloblastoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0850197 MONDO:0007959 True medulloblastoma SHH activated medulloblastoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0850198 MONDO:0007959 True medulloblastoma non-WNT/non-SHH medulloblastoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0850199 MONDO:0003778 True NK cell deficiency inborn error of immunity UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0850200 MONDO:0003778 True T cell and NK cell immunodeficiency inborn error of immunity UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0850201 MONDO:0002254 True hereditary alpha tryptasemia syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0850223 MONDO:0000603 True Libman-Sacks endocarditis autoimmune disorder of cardiovascular system UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0850223 MONDO:0005025 True Libman-Sacks endocarditis endocarditis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0850225 MONDO:0016264 True autoimmune cholangitis autoimmune hepatitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0850230 MONDO:0005492 True chronic urticaria urticaria UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0850231 MONDO:0006591 True erythema nodosum panniculitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0850257 MONDO:0004957 True mucinous pancreas adenocarcinoma mucinous adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0850257 MONDO:0006047 True mucinous pancreas adenocarcinoma pancreatic adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0850267 MONDO:0018872 True childhood acute megakaryoblastic leukemia acute megakaryoblastic leukemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0850269 MONDO:0018874 True core binding factor acute myeloid leukemia acute myeloid leukemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0850271 MONDO:0018872 True myeloid leukemia associated with down syndrome acute megakaryoblastic leukemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0850273 MONDO:0000521 True salivary gland mucinous adenocarcinoma salivary gland carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0850273 MONDO:0004957 True salivary gland mucinous adenocarcinoma mucinous adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0850281 MONDO:0000521 True mammary analog secretory carcinoma salivary gland carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0850282 MONDO:0004979 True chronic asthma asthma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0850283 MONDO:0004979 True acute asthma asthma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0850284 MONDO:0850282 True extrinsic asthma chronic asthma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0850285 MONDO:0004765 True environmental induced asthma intrinsic asthma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0850286 MONDO:0004765 True exercise-induced bronchoconstriction intrinsic asthma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0850287 MONDO:0004765 True aspirin-induced respiratory disease intrinsic asthma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0850289 MONDO:0005108 True human betaherpesvirus 5 infectious disease viral infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0850292 MONDO:0002039 True subjective cognitive decline cognitive disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0850295 MONDO:0004382 True acquired laryngomalacia laryngeal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0850301 MONDO:0019337 True pemphigoid autoimmune bullous skin disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0850302 MONDO:0016642 True intracranial meningioma meningioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0850303 MONDO:0016642 True supratentorial meningioma meningioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0850306 MONDO:0005147 True latent autoimmune diabetes in adults type 1 diabetes mellitus UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0850312 MONDO:0021636 True anaplastic pleomorphic xanthoastrocytoma astrocytic tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0850332 MONDO:0016684 True IDH-mutant anaplastic astrocytoma anaplastic astrocytoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0850333 MONDO:0016684 True IDH-wildtype anaplastic astrocytoma anaplastic astrocytoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0850335 MONDO:0018177 True IDH-wildtype glioblastoma glioblastoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0850338 MONDO:0003473 True spinal ependymoma, MYCN-amplified spinal cord ependymoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0850339 MONDO:0016700 True posterior fossa ependymoma anaplastic ependymoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0850340 MONDO:0016700 True supratentorial ependymoma anaplastic ependymoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0850345 MONDO:0003573 True lung pleomorphic carcinoma pleomorphic carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0850346 MONDO:0005212 True oral rhabdomyosarcoma rhabdomyosarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0850346 MONDO:0005515 True oral rhabdomyosarcoma oral cavity cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0850347 MONDO:0002837 True bladder sarcomatoid transitional cell carcinoma sarcomatoid transitional cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0850348 MONDO:0004986 True bladder small cell carcinoma urinary bladder carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0850349 MONDO:0016707 True astroblastoma, MN1-altered astroblastoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0850353 MONDO:0005159 True castration-resistant prostate carcinoma prostate carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0850368 MONDO:0019065 True immunoglobulin heavy-and-light chain amyloidosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0850371 MONDO:0005010 True nonobstructive coronary artery disease coronary artery disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0850388 MONDO:0004378 True childhood supratentorial embryonal tumor with multilayered rosettes, C19MC-altered pediatric cerebral ependymoblastoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0850416 MONDO:0000568 True autoimmune epilepsy autoimmune disorder of central nervous system UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0850416 MONDO:0005027 True autoimmune epilepsy epilepsy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0850417 MONDO:0018076 True tuberculous encephalopathy tuberculosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0850418 MONDO:0018905 True diffuse large B-cell lymphoma activated B-cell type diffuse large B-cell lymphoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0850419 MONDO:0018905 True diffuse large B-cell lymphoma germinal center B-cell type diffuse large B-cell lymphoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0850420 MONDO:0006515 True acute necrotizing pancreatitis acute pancreatitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0850421 MONDO:0006515 True acute hemorrhagic pancreatitis acute pancreatitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0850426 MONDO:0004095 True high-grade B-cell lymphoma double-hit/triple-hit B-cell neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0850445 MONDO:0000650 True benign peritoneal solitary fibrous tumor peritoneal benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0850449 MONDO:0020322 True mixed phenotype acute leukemia with BCR-ABL1 acute biphenotypic leukemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0850450 MONDO:0020322 True mixed phenotype acute leukemia with MLL rearranged acute biphenotypic leukemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0850451 MONDO:0020322 True mixed phenotype acute leukemia, B/myeloid acute biphenotypic leukemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0850452 MONDO:0020322 True mixed phenotype acute leukemia,T/myeloid acute biphenotypic leukemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0850459 MONDO:0000607 True primary cutaneous gamma-delta t-cell lymphoma primary cutaneous T-cell non-Hodgkin lymphoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0850461 MONDO:0000408 True neurobehavioral disorder with prenatal alcohol exposure fetal alcohol spectrum disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0850468 MONDO:0018905 True BN2 diffuse large B-cell lymphoma diffuse large B-cell lymphoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0850469 MONDO:0018905 True EZB diffuse large B-cell lymphoma diffuse large B-cell lymphoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0850470 MONDO:0018905 True MCD diffuse large B-cell lymphoma diffuse large B-cell lymphoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0850471 MONDO:0018905 True N1 diffuse large B-cell lymphoma diffuse large B-cell lymphoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0850472 MONDO:0018905 True ST2 diffuse large B-cell lymphoma diffuse large B-cell lymphoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0850473 MONDO:0018905 True A53 diffuse large B-cell lymphoma diffuse large B-cell lymphoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0850492 MONDO:0018874 True acute myeloid leukemia, t(8;21)(q22; q22.1) acute myeloid leukemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0850495 MONDO:0018874 True acute myeloid leukemia, t(1;22)(p13;q13) acute myeloid leukemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0850514 MONDO:0000426 True inclusion body myopathy and brain white matter abnormalities autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0850514 MONDO:0000507 True inclusion body myopathy and brain white matter abnormalities inclusion body myopathy with Paget disease of bone and frontotemporal dementia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED -MONDO:0850519 MONDO:0004736 True tetrahydrobiopterin (BH4)-deficient hyperphenylalaninemia inborn disorder of amino acid metabolism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0850618 MONDO:0005119 True injection anthrax anthrax infection UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0850812 MONDO:0003778 True dendritic cell deficiency inborn error of immunity UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0851095 MONDO:0000426 True KINSSHIP syndrome autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0851095 MONDO:0002254 True KINSSHIP syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0851100 MONDO:0002433 True malignant olfactory nerve neoplasm malignant cranial nerve neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0851102 MONDO:0000473 True pulmonary artery disease arterial disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0851102 MONDO:0005275 True pulmonary artery disease lung disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0851103 MONDO:0002263 True Bartholin's gland disease female reproductive system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0851105 MONDO:0000629 True cerebrovascular benign neoplasm cardiovascular organ benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0858910 MONDO:0000812 True dropped head syndrome vertebral column disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0858916 MONDO:0002109 True pituitary blastoma pituitary cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0858916 MONDO:0005565 True pituitary blastoma blastoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0858917 MONDO:0003164 True cauda equina neuroendocrine tumor cauda equina neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0858921 MONDO:0006974 True EWSR1-negative small round cell tumor small cell sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0858926 MONDO:0002254 True developmental delay, hypotrophy, and dysmorphic features without moebius syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0858939 MONDO:0100342 True diffuse pediatric-type high-grade glioma, H3-wildtype and IDH-wildtype malignant glioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0858940 MONDO:0021636 True infant-type hemispheric glioma astrocytic tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0858944 MONDO:0000628 True myxoid glioneuronal tumor central nervous system organ benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0858956 MONDO:0000628 True diffuse leptomeningeal glioneuronal tumor central nervous system organ benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0858957 MONDO:0000628 True multinodular and vacuolating neuronal tumor central nervous system organ benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0858958 MONDO:0016684 True high-grade astrocytoma with piloid features anaplastic astrocytoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0858959 MONDO:0000628 True polymorphous low grade neuroepithelial tumor of the young central nervous system organ benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0858960 MONDO:0003257 True spindle cell oncocytoma posterior pituitary gland neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0858966 MONDO:0000640 True central nervous system tumor with bcor internal tandem duplication central nervous system primitive neuroectodermal neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0858967 MONDO:0002216 True primary intracranial sarcoma, DICER1-mutant brain sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0858974 MONDO:0002254 True breast implant illness syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0858974 MONDO:0002657 True breast implant illness breast disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0858989 MONDO:0015150 True autosomal recessive spastic paraplegia type 84 complex hereditary spastic paraplegia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0858990 MONDO:0015150 True autosomal recessive spastic paraplegia type 85 complex hereditary spastic paraplegia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0858991 MONDO:0015150 True autosomal recessive spastic paraplegia type 86 complex hereditary spastic paraplegia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0858992 MONDO:0019064 True autosomal recessive spastic paraplegia type 87 hereditary spastic paraplegia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0858998 MONDO:0015159 True mesomelic dysplasia-digital anomalies-intellectual disability syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0858998 MONDO:0018230 True mesomelic dysplasia-digital anomalies-intellectual disability syndrome skeletal dysplasia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0858999 MONDO:0015159 True KDM3B-related intellectual disability-facial dysmorphism-short stature syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0859001 MONDO:0018354 True CPE-related Prader-Willi-like syndrome Prader-Willi-like syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0859002 MONDO:0015159 True intellectual disability-early-onset cataract-microcephaly syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0859003 MONDO:0019236 True PAICS deficiency inborn disorder of purine metabolism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0859005 MONDO:0018234 True preaxial digit brachydactyly-webbed fingers dysostosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0859006 MONDO:0018234 True proximal femoral focal deficiency dysostosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0859007 MONDO:0019289 True mosaic Legius syndrome hyperpigmentation of the skin UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0859008 MONDO:0015356 True neurofibromatosis/schwannomatosis hereditary neoplastic syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0859086 MONDO:0019181 True intellectual developmental disorder, X-linked 110 non-syndromic X-linked intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0859160 MONDO:0033885 True Mitochondrial complex IV deficiency, nuclear type 22 mitochondrial complex IV deficiency, nuclear-type UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0859171 MONDO:0003847 True Luo-Schoch-Yamamoto syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0859192 MONDO:0031037 True cerebral cavernous malformation 4 famililal cerebral cavernous malformations UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0859197 MONDO:0003847 True intellectual developmental disorder with hypotonia, impaired speech, and dysmorphic facies hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0859208 MONDO:0003847 True Hengel-Maroofian-Schols syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0859228 MONDO:0000732 True combined oxidative phosphorylation deficiency 55 combined oxidative phosphorylation deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0859234 MONDO:0015977 True agammaglobulinemia 8b, autosomal recessive agammaglobulinemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED -MONDO:0859237 MONDO:0017359 True 3-methylglutaconic aciduria, type VIIA 3-methylglutaconic aciduria UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED -MONDO:0859242 MONDO:0019046 True leukodystrophy, hypomyelinating, 24 leukodystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0859245 MONDO:0015244 True spinocerebellar ataxia, autosomal recessive 32 autosomal recessive cerebellar ataxia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0859264 MONDO:0019952 True congenital myopathy 11 congenital myopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0859279 MONDO:0015363 True spinal muscular atrophy, distal, autosomal recessive, 6 neuronopathy, distal hereditary motor, autosomal recessive UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0859280 MONDO:0003847 True developmental delay, hypotonia, and impaired language hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0859300 MONDO:0015362 True neuronopathy, distal hereditary motor, autosomal dominant 10 neuronopathy, distal hereditary motor, autosomal dominant UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0859308 MONDO:0019200 True retinitis pigmentosa 95 retinitis pigmentosa UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0859309 MONDO:0019064 True spastic paraplegia 88, autosomal dominant hereditary spastic paraplegia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0859311 MONDO:0015626 True Charcot-Marie-Tooth disease, demyelinating, type 1J Charcot-Marie-Tooth disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0859314 MONDO:0100062 True developmental and epileptic encephalopathy 108 developmental and epileptic encephalopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0859319 MONDO:0015780 True dyskeratosis congenita, autosomal recessive 8 dyskeratosis congenita UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0859320 MONDO:0100223 True mitochondrial complex I deficiency, nuclear type 39 mitochondrial complex I deficiency, nuclear type UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0859321 MONDO:0020811 True mitochondrial complex 3 deficiency, nuclear type 11 mitochondrial complex III deficiency, nuclear type UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0859323 MONDO:0000732 True combined oxidative phosphorylation deficiency 56 combined oxidative phosphorylation deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0859325 MONDO:0100062 True developmental and epileptic encephalopathy 109 developmental and epileptic encephalopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0859327 MONDO:0100062 True developmental and epileptic encephalopathy 110 developmental and epileptic encephalopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0859328 MONDO:0018100 True hypomagnesemia 7, renal, with or without dilated cardiomyopathy familial primary hypomagnesemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0859329 MONDO:0000141 True mosaic variegated aneuploidy syndrome 4 mosaic variegated aneuploidy syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0859330 MONDO:0014769 True oocyte maturation defect 13 inherited oocyte maturation defect UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0859332 MONDO:0000904 True cortical dysplasia, complex, with other brain malformations 11 complex cortical dysplasia with other brain malformations UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0859333 MONDO:0100172 True intellectual developmental disorder, autosomal dominant 70 intellectual disability, autosomal dominant UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0859334 MONDO:0020380 True spinocerebellar ataxia 50 autosomal dominant cerebellar ataxia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0859335 MONDO:0019952 True congenital myopathy 15 congenital myopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0859337 MONDO:0000732 True combined oxidative phosphorylation deficiency 57 combined oxidative phosphorylation deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0859338 MONDO:0004983 True spermatogenic failure 78 spermatogenic failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0859339 MONDO:0005486 True tooth agenesis, selective, 10 tooth agenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0859340 MONDO:0020380 True spinocerebellar ataxia 27B, late-onset autosomal dominant cerebellar ataxia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0859341 MONDO:0003037 True hypotrichosis 15 hypotrichosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0859342 MONDO:0016660 True microcephaly 30, primary, autosomal recessive autosomal recessive primary microcephaly UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0859346 MONDO:0000141 True mosaic variegated aneuploidy syndrome 7 with inflammation and tumor predisposition mosaic variegated aneuploidy syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0859352 MONDO:0004983 True spermatogenic failure 79 spermatogenic failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0859353 MONDO:0016575 True ciliary dyskinesia, primary, 49, without situs inversus primary ciliary dyskinesia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0859354 MONDO:0031432 True thyroid hormone metabolism, abnormal, 3 thyroid hormone metabolism, abnormal UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0859356 MONDO:0005501 True congenital disorder of glycosylation, type IIy congenital disorder of glycosylation type II UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0859357 MONDO:0005501 True congenital disorder of glycosylation, type IIz congenital disorder of glycosylation type II UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0859358 MONDO:0016333 True cardiomyopathy, dilated, 2H familial dilated cardiomyopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0859360 MONDO:0015244 True spinocerebellar ataxia, autosomal recessive 33 autosomal recessive cerebellar ataxia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0859362 MONDO:0005803 True hyperinsulinemic hypoglycemia, familial, 8 hyperinsulinemic hypoglycemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0859363 MONDO:0019064 True spastic paraplegia 79A, autosomal dominant, with ataxia hereditary spastic paraplegia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0859364 MONDO:0004983 True spermatogenic failure 80 spermatogenic failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0859366 MONDO:0019587 True hearing loss, autosomal dominant 85 autosomal dominant nonsyndromic hearing loss UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0859367 MONDO:0019200 True retinitis pigmentosa 96 retinitis pigmentosa UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0859372 MONDO:0024573 True cardiomyopathy, familial hypertrophic, 29, with polyglucosan bodies familial hypertrophic cardiomyopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0859373 MONDO:0019502 True intellectual developmental disorder, autosomal recessive 78 autosomal recessive non-syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0859374 MONDO:0019588 True hearing loss, autosomal recessive 120 hearing loss, autosomal recessive UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0859378 MONDO:0019046 True leukodystrophy, hypomyelinating, 25 leukodystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0859379 MONDO:0019313 True lymphatic malformation 13 lymphatic malformation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0859380 MONDO:0044202 True episodic kinesigenic dyskinesia 3 episodic kinesigenic dyskinesia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0859381 MONDO:0016333 True cardiomyopathy, dilated, 100 familial dilated cardiomyopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0859382 MONDO:0005129 True cataract 50 with or without glaucoma cataract UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0859477 MONDO:0004983 True spermatogenic failure, X-linked, 5 spermatogenic failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0859478 MONDO:0004983 True spermatogenic failure, X-linked, 6 spermatogenic failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0859514 MONDO:0019952 True congenital myopathy 18 congenital myopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0859515 MONDO:0019952 True congenital myopathy 10b, mild variant congenital myopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0859517 MONDO:0019952 True congenital myopathy 2b, severe infantile, autosomal recessive congenital myopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0859518 MONDO:0019046 True leukodystrophy, hypomyelinating, 26, with chondrodysplasia leukodystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0859520 MONDO:0033885 True Mitochondrial complex IV deficiency, nuclear type 23 mitochondrial complex IV deficiency, nuclear-type UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0859521 MONDO:0014769 True oocyte maturation defect 14 inherited oocyte maturation defect UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0859522 MONDO:0004983 True spermatogenic failure 81 spermatogenic failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0859523 MONDO:0019952 True congenital myopathy 2c, severe infantile, autosomal dominant congenital myopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0859524 MONDO:0019587 True hearing loss, autosomal dominant 86 autosomal dominant nonsyndromic hearing loss UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0859525 MONDO:0019587 True hearing loss, autosomal dominant 87 autosomal dominant nonsyndromic hearing loss UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0859526 MONDO:0021094 True immunodeficiency 109 with lymphoproliferation immunodeficiency disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0859527 MONDO:0019587 True hearing loss, autosomal dominant 88 autosomal dominant nonsyndromic hearing loss UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0859528 MONDO:0019587 True hearing loss, autosomal dominant 89 autosomal dominant nonsyndromic hearing loss UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0859529 MONDO:0005144 True amyotrophic lateral sclerosis 27, juvenile familial amyotrophic lateral sclerosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0859564 MONDO:0859390 True epilepsy, X-linked 2, with or without impaired intellectual development and dysmorphic features epilepsy, X-linked, with or without impaired intellectual development and dysmorphic features UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0800113 MONDO:0018882 True necrotizing vasculitis vasculitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0800133 MONDO:0005087 True pulmonary hypoplasia respiratory system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0800177 MONDO:0021178 True frostbite injury UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0858921 MONDO:0006974 True EWSR1-negative small round cell tumor small cell sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0859565 MONDO:0020290 True atrioventricular septal defect familial atrioventricular septal defect UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0859567 MONDO:0031329 True craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development syndrome 2 craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0859568 MONDO:0031166 True macular dystrophy, retinal, 4 macular dystrophy, retinal UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0859569 MONDO:0031646 True braddock-carey syndrome 1 Braddock-Carey syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0859570 MONDO:0031646 True braddock-carey syndrome 2 Braddock-Carey syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0859571 MONDO:0005711 True diaphragmatic hernia 4, with cardiovascular defects congenital diaphragmatic hernia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0859572 MONDO:0031323 True cardiac valvular dysplasia 2 cardiac valvular defect UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0859573 MONDO:0031615 True bent bone dysplasia syndrome 2 familial bent bone dysplasia syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0859574 MONDO:0011870 True ichthyosis, annular epidermolytic, 2 annular epidermolytic ichthyosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0859575 MONDO:0000141 True Atelis syndrome 1 mosaic variegated aneuploidy syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0859575 MONDO:0859393 True Atelis syndrome 1 Atelis syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0859576 MONDO:0000141 True Atelis syndrome 2 mosaic variegated aneuploidy syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0859576 MONDO:0859393 True Atelis syndrome 2 Atelis syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0859577 MONDO:0007872 True lacrimoauriculodentodigital syndrome 2 LADD syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0859578 MONDO:0007872 True lacrimoauriculodentodigital syndrome 3 LADD syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0859588 MONDO:0018855 True keratosis pilaris atrophicans faciei keratosis pilaris atrophicans UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0859591 MONDO:0021637 True childhood low-grade glioma low grade glioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0859592 MONDO:0016696 True IDH-mutant and 1p/19q-codeleted oligodendroglioma anaplastic oligodendroglioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0859597 MONDO:0002900 True cns neuroblastoma with FOXR2 activation cerebral neuroblastoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0859598 MONDO:0017858 True erythroleukemia acute erythroid leukemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0859614 MONDO:0021637 True diffuse low-grade glioma, MAPK pathway–altered low grade glioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0859615 MONDO:0016686 True diffuse astrocytoma, MYB- or MYBL1-altered diffuse astrocytoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0859689 MONDO:0000385 True hepatobiliary benign neoplasm benign digestive system neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0859690 MONDO:0850125 True malignant cystadenoma malignant adenoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0859692 MONDO:0016593 True immune-mediated cerebellar ataxia acquired ataxia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0859747 MONDO:0019466 True grade I lymphomatoid granulomatosis lymphomatoid granulomatosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0859748 MONDO:0019466 True grade II lymphomatoid granulomatosis lymphomatoid granulomatosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0859749 MONDO:0019466 True grade III lymphomatoid granulomatosis lymphomatoid granulomatosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0859761 MONDO:0859000 True SLC12A2-related autosomal recessive neonatal-developmental delay-intellectual disability-feeding difficulty-sensorineural deafness syndrome SLC12A2-related developmental delay-intellectual disability-sensorineural deafness syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0859762 MONDO:0859000 True SLC12A2-related autosomal dominant infantile-developmental delay-intellectual disability-sensorineural deafness syndrome SLC12A2-related developmental delay-intellectual disability-sensorineural deafness syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0859763 MONDO:0859008 True mosaic neurofibromatosis type 1 neurofibromatosis/schwannomatosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0859764 MONDO:0859008 True mosaic NF2-related schwannomatosis neurofibromatosis/schwannomatosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0859765 MONDO:0859008 True mosaic schwannomatosis neurofibromatosis/schwannomatosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0957111 MONDO:0019119 True neurological muscular channelopathy due to a genetic sodium channel defect muscular channelopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0957112 MONDO:0019119 True neurological muscular channelopathy due to a genetic chloride channel defect muscular channelopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0957113 MONDO:0019119 True neurological muscular channelopathy due to a genetic calcium channel defect muscular channelopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0957114 MONDO:0019119 True neurological muscular channelopathy due to a genetic potassium channel defect muscular channelopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0957115 MONDO:0019119 True neurological muscular channelopathy due to a genetic ryanodine receptor defect muscular channelopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0957202 MONDO:0004983 True spermatogenic failure, X-linked, 7 spermatogenic failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0957203 MONDO:0019181 True intellectual developmental disorder, X-linked 111 non-syndromic X-linked intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0957208 MONDO:0013099 True pituitary hormone deficiency, combined or isolated, 8 combined pituitary hormone deficiencies, genetic form UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0957215 MONDO:0019952 True congenital myopathy 20 congenital myopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0957216 MONDO:0019852 True premature ovarian failure 21 inherited primary ovarian failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0957217 MONDO:0000904 True cortical dysplasia, complex, with other brain malformations 12 complex cortical dysplasia with other brain malformations UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0957220 MONDO:0014769 True oocyte/zygote/embryo maturation arrest 17 inherited oocyte maturation defect UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0957221 MONDO:0019064 True spastic paraplegia 70, autosomal recessive hereditary spastic paraplegia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0957224 MONDO:0019952 True congenital myopathy 21 with early respiratory failure congenital myopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0957228 MONDO:0100172 True intellectual developmental disorder, autosomal dominant 71, with behavioral abnormalities intellectual disability, autosomal dominant UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0957229 MONDO:0021094 True hatipoglu immunodeficiency syndrome immunodeficiency disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0957230 MONDO:0014769 True oocyte/zygote/embryo maturation arrest 18 inherited oocyte maturation defect UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0957231 MONDO:0014769 True oocyte/zygote/embryo maturation arrest 19 inherited oocyte maturation defect UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0957240 MONDO:0015993 True cone-rod dystrophy 24 cone-rod dystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0957247 MONDO:0019952 True congenital myopathy 22A, classic congenital myopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0957248 MONDO:0100062 True developmental and epileptic encephalopathy 31B developmental and epileptic encephalopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0957249 MONDO:0004983 True spermatogenic failure 82 spermatogenic failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0957250 MONDO:0004983 True spermatogenic failure 83 spermatogenic failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0957252 MONDO:0016575 True ciliary dyskinesia, primary, 50 primary ciliary dyskinesia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0957253 MONDO:0000824 True diarrhea 13 congenital diarrhea UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0957254 MONDO:0014471 True mitochondrial complex V (ATP synthase) deficiency, nuclear type 4A mitochondrial proton-transporting ATP synthase complex deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0957255 MONDO:0014471 True mitochondrial complex V (ATP synthase) deficiency, nuclear type 7 mitochondrial proton-transporting ATP synthase complex deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0957261 MONDO:0000148 True pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 7 pulmonary fibrosis and/or bone marrow failure, telomere-related UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0957262 MONDO:0019026 True osteopetrosis, autosomal recessive 9 autosomal recessive osteopetrosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0957263 MONDO:0000148 True pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 8 pulmonary fibrosis and/or bone marrow failure, telomere-related UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0957264 MONDO:0012815 True cerebroretinal microangiopathy with calcifications and cysts 3 Coats plus syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0957265 MONDO:0019952 True congenital myopathy 22B, severe fetal congenital myopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0957270 MONDO:0015152 True muscular dystrophy, limb-girdle, autosomal recessive 28 autosomal recessive limb-girdle muscular dystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0957274 MONDO:0019064 True spastic paraplegia 89, autosomal recessive hereditary spastic paraplegia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0957278 MONDO:0014769 True oocyte/zygote/embryo maturation arrest 20 inherited oocyte maturation defect UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0957281 MONDO:0018958 True nemaline myopathy 5B, autosomal recessive, childhood-onset nemaline myopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0957284 MONDO:0018958 True nemaline myopathy 5C, autosomal dominant nemaline myopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0957288 MONDO:0019502 True intellectual developmental disorder, autosomal recessive 79 autosomal recessive non-syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0957294 MONDO:0000148 True pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 9 pulmonary fibrosis and/or bone marrow failure, telomere-related UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0957301 MONDO:0004983 True spermatogenic failure 84 spermatogenic failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0957308 MONDO:0019064 True spastic paraplegia 90A, autosomal dominant hereditary spastic paraplegia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0957309 MONDO:0019064 True spastic paraplegia 90B, autosomal recessive hereditary spastic paraplegia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0957382 MONDO:0017338 True multiple mitochondrial dysfunctions syndrome 7 fatal multiple mitochondrial dysfunctions syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0957385 MONDO:0044807 True dystonia 37, early-onset, with striatal lesions inherited dystonia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0957388 MONDO:0000213 True autoimmune disease, multisystem, infantile-onset, 3 autoimmune disease, multisystem, infantile-onset UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0957396 MONDO:0016575 True ciliary dyskinesia, primary, 51 primary ciliary dyskinesia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0957397 MONDO:0100172 True intellectual developmental disorder, autosomal dominant 72 intellectual disability, autosomal dominant UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0957421 MONDO:0006009 True borna virus encephalitis viral encephalitis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0957426 MONDO:0018037 True autosomal recessive hyper-IgE syndrome hyper-IgE syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0957442 MONDO:0100309 True autosomal recessive ataxia due to PEX16 deficiency hereditary ataxia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0957443 MONDO:0100309 True autosomal recessive ataxia due to PEX2 deficiency hereditary ataxia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0957451 MONDO:0017077 True non-terminal myelocystocele myelocystocele UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0957453 MONDO:0019773 True true myelomeningocele myelomeningocele UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0957454 MONDO:0019773 True hemi-myelomeningocele myelomeningocele UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0957456 MONDO:0016367 True classical dermatomyositis dermatomyositis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0957458 MONDO:0016367 True adermatopathic dermatomyositis dermatomyositis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0957461 MONDO:0018076 True primary tuberculous lymphadenitis tuberculosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0957463 MONDO:0018076 True primary bone and joint tuberculosis tuberculosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0957465 MONDO:0018076 True multifocal tuberculosis tuberculosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0957466 MONDO:0018076 True primary tuberculosis of the digestive system tuberculosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0957476 MONDO:0019356 True isolated persistent urogenital sinus urogenital tract malformation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0957495 MONDO:0957097 True hemolytic uremic syndrome, atypical, 8, with rhizomelic short stature hereditary hemolytic uremic syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0957496 MONDO:0019181 True intellectual developmental disorder, X-linked 112 non-syndromic X-linked intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0957530 MONDO:0100526 True breast-ovarian cancer, familial, susceptibility to, 5 breast-ovarian cancer, familial, susceptibility to UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0957533 MONDO:0000137 True megalencephalic leukoencephalopathy with subcortical cysts 3 leukoencephalopathy, megalencephalic UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0957534 MONDO:0000137 True megalencephalic leukoencephalopathy with subcortical cysts 4, remitting leukoencephalopathy, megalencephalic UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0957535 MONDO:0021094 True immunodeficiency 112 immunodeficiency disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0957537 MONDO:0000732 True combined oxidative phosphorylation deficiency 58 combined oxidative phosphorylation deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0957538 MONDO:0005144 True amyotrophic lateral sclerosis 28 familial amyotrophic lateral sclerosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0957539 MONDO:0044807 True dystonia 22, juvenile-onset inherited dystonia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0957540 MONDO:0005501 True congenital disorder of glycosylation, type IIaa congenital disorder of glycosylation type II UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0957542 MONDO:0044807 True dystonia 22, adult-onset inherited dystonia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0957543 MONDO:0000107 True auriculocondylar syndrome 4 auriculocondylar syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0957544 MONDO:0000107 True auriculocondylar syndrome 2B auriculocondylar syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0957545 MONDO:0016333 True cardiomyopathy, dilated, 2I familial dilated cardiomyopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0957556 MONDO:0017864 True congenital pulmonary vein atresia congenital pulmonary veins atresia or stenosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:8000006 MONDO:0015134 True WHIM syndrome 1 constitutional neutropenia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:8000006 MONDO:0023880 True WHIM syndrome 1 WHIM syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:8000008 MONDO:0015159 True Martsolf syndrome 1 multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:8000008 MONDO:0015770 True Martsolf syndrome 1 congenital hypogonadotropic hypogonadism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:8000008 MONDO:0023910 True Martsolf syndrome 1 Martsolf syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:8000010 MONDO:0007179 True antiphospholipid syndrome autoimmune disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:8000011 MONDO:0000858 True visceral neuropathy, familial, 1, autosomal recessive neuronal intestinal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:8000011 MONDO:0017574 True visceral neuropathy, familial, 1, autosomal recessive chronic intestinal pseudoobstruction UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:8000010 MONDO:0002254 True antiphospholipid syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:8000011 MONDO:0023961 True visceral neuropathy, familial, 1, autosomal recessive visceral neuropathy, familial UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:8000012 MONDO:0024189 True neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset 1 neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:8000013 MONDO:0024193 True portal hypertension, noncirrhotic, 1 portal hypertension, noncirrhotic UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:8000015 MONDO:0010765 True 46,XY sex reversal 11 46,XY complete gonadal dysgenesis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:8000018 MONDO:0004900 True benign paroxysmal positional vertigo peripheral vertigo UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:8000024 MONDO:0017979 True autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD autoimmune lymphoproliferative syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:8000023 MONDO:0017979 True type 3 autoimmune lymphoproliferative syndrome autoimmune lymphoproliferative syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0000004 MONDO:0002816 False adrenocortical insufficiency adrenal cortex disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0000005 MONDO:0004907 False alopecia, isolated alopecia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0000005 MONDO:0100118 False alopecia, isolated hereditary skin disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0000009 MONDO:0002243 False inherited bleeding disorder, platelet-type hemorrhagic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0000009 MONDO:0002245 False inherited bleeding disorder, platelet-type blood platelet disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0000009 MONDO:0003847 False inherited bleeding disorder, platelet-type hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0000015 MONDO:0003832 False classic complement early component deficiency complement deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000022 MONDO:0024290 False nocturnal enuresis enuresis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0000023 MONDO:0003847 False infantile liver failure hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0000023 MONDO:0100192 False infantile liver failure liver failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0000030 MONDO:0002612 False sleep-related hypermotor epilepsy frontal lobe epilepsy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -18747,13 +10691,12 @@ MONDO:0000044 MONDO:0024300 False hereditary hypophosphatemic rickets hypophosph MONDO:0000045 MONDO:0003847 False hypothyroidism, congenital, nongoitrous hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0000045 MONDO:0018612 False hypothyroidism, congenital, nongoitrous congenital hypothyroidism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0000050 MONDO:0013099 False isolated congenital growth hormone deficiency combined pituitary hormone deficiencies, genetic form UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING -MONDO:0000060 MONDO:0001149 False microcephalic osteodysplastic primordial dwarfism microcephaly UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0000062 MONDO:0003847 False isolated microphthalmia hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0000062 MONDO:0021129 False isolated microphthalmia microphthalmia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0000065 MONDO:0020573 False microvascular complications of diabetes, susceptibility inherited disease susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0000078 MONDO:0019796 False acrocephalopolysyndactyly acrocephalosyndactyly UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0000079 MONDO:0005298 False nephrolithiasis/osteoporosis, hypophosphatemic osteoporosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS MONDO:0000082 MONDO:0005039 False pelvic organ prolapse reproductive system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000087 MONDO:0002320 False polymicrogyria congenital nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0000088 MONDO:0002259 False precocious puberty gonadal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0000088 MONDO:0021147 False precocious puberty disorder of development or morphogenesis UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0000090 MONDO:0005181 False progressive external ophthalmoplegia with mitochondrial DNA deletions progressive external ophthalmoplegia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -18761,28 +10704,34 @@ MONDO:0000104 MONDO:0000387 False anemia, hypochromic microcytic with iron overl MONDO:0000104 MONDO:0003847 False anemia, hypochromic microcytic with iron overload hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0000107 MONDO:0007500 False auriculocondylar syndrome ear malformation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0000108 MONDO:0015979 False bacteremia, susceptibility hereditary predisposition to infections UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0000110 MONDO:0015411 False bifid nose facial cleft UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0000110 MONDO:0024623 False bifid nose otorhinolaryngologic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0000115 MONDO:0003847 False Chiari malformation hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0000118 MONDO:0019288 False reticulate pigment disorder skin pigmentation disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0000118 MONDO:0100118 False reticulate pigment disorder hereditary skin disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0000127 MONDO:0019695 False geleophysic dysplasia acromelic dysplasia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0000128 MONDO:0004183 False giant axonal neuropathy axonal neuropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0000128 MONDO:0020127 False giant axonal neuropathy hereditary peripheral neuropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0000129 MONDO:0005066 False glutaric aciduria metabolic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0000133 MONDO:0006025 False immunodeficiency-centromeric instability-facial anomalies syndrome autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0000133 MONDO:0100137 False immunodeficiency-centromeric instability-facial anomalies syndrome telomere syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0000136 MONDO:0006566 False keratosis follicularis spinulosa decalvans keratosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0000136 MONDO:0018855 False keratosis follicularis spinulosa decalvans keratosis pilaris atrophicans UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0000136 MONDO:0800159 False keratosis follicularis spinulosa decalvans disorder of polyamine metabolism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0000137 MONDO:0003847 False leukoencephalopathy, megalencephalic hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0000137 MONDO:0005560 False leukoencephalopathy, megalencephalic brain disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0000138 MONDO:0009943 False metaphyseal chondrodysplasia Pyle disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0000141 MONDO:0015356 False mosaic variegated aneuploidy syndrome hereditary neoplastic syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0000141 MONDO:0019040 False mosaic variegated aneuploidy syndrome chromosomal disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0000148 MONDO:0002771 False pulmonary fibrosis and/or bone marrow failure, telomere-related pulmonary fibrosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0000148 MONDO:0003847 False pulmonary fibrosis and/or bone marrow failure, telomere-related hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0000148 MONDO:0100137 False pulmonary fibrosis and/or bone marrow failure, telomere-related telomere syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0000151 MONDO:0005172 False symphalangism skeletal system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0000152 MONDO:0017578 False thiamine-responsive dysfunction syndrome disorder of thiamine metabolism and transport UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0000153 MONDO:0019512 False transposition of the great arteries congenital heart malformation UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0000156 MONDO:0018234 False trigonocephaly dysostosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0000158 MONDO:0003847 False developmental dysplasia of the hip hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0000158 MONDO:0005497 False developmental dysplasia of the hip bone development disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000159 MONDO:0003225 False bone marrow failure syndrome bone marrow disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0000159 MONDO:0003847 False bone marrow failure syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0000160 MONDO:0016022 False epilepsy, familial adult myoclonic early myoclonic encephalopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0000166 MONDO:0003847 False encephalopathy, acute, infection-induced hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -18792,8 +10741,14 @@ MONDO:0000166 MONDO:0021669 False encephalopathy, acute, infection-induced post- MONDO:0000169 MONDO:0000062 False microphthalmia, isolated, with cataract isolated microphthalmia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0000170 MONDO:0000062 False microphthalmia, isolated, with coloboma isolated microphthalmia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0000170 MONDO:0001476 False microphthalmia, isolated, with coloboma coloboma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0000170 MONDO:0016764 False microphthalmia, isolated, with coloboma isolated anophthalmia-microphthalmia syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0000171 MONDO:0018276 False muscular dystrophy-dystroglycanopathy, type A muscular dystrophy-dystroglycanopathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0000172 MONDO:0018276 False muscular dystrophy-dystroglycanopathy, type B muscular dystrophy-dystroglycanopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0000173 MONDO:0018276 False muscular dystrophy-dystroglycanopathy, type C muscular dystrophy-dystroglycanopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0000179 MONDO:0002051 False Neu-Laxova syndrome integumentary system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0000179 MONDO:0002254 False Neu-Laxova syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0000179 MONDO:0015148 False Neu-Laxova syndrome lissencephaly type 3 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0000179 MONDO:0015159 False Neu-Laxova syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0000179 MONDO:0015327 False Neu-Laxova syndrome developmental anomaly of metabolic origin UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0000179 MONDO:0018491 False Neu-Laxova syndrome 3-phosphoglycerate dehydrogenase deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0000181 MONDO:0001149 False microcephaly and chorioretinopathy microcephaly UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -18804,12 +10759,16 @@ MONDO:0000182 MONDO:0018940 False congenital myasthenic syndrome with tubular ag MONDO:0000188 MONDO:0015653 False GLUT1 deficiency syndrome monogenic epilepsy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0000188 MONDO:0019226 False GLUT1 deficiency syndrome glucose transport disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0000188 MONDO:0100033 False GLUT1 deficiency syndrome metabolic epilepsy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000190 MONDO:0007263 False ventricular fibrillation cardiac rhythm disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0000192 MONDO:0005336 False polyglucosan body myopathy myopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0000192 MONDO:0700223 False polyglucosan body myopathy hereditary skeletal muscle disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0000193 MONDO:0002525 False cortisone reductase deficiency inherited lipid metabolism disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0000193 MONDO:0005039 False cortisone reductase deficiency reproductive system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0000193 MONDO:0015898 False cortisone reductase deficiency adrenogenital syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0000200 MONDO:0003847 False Zimmermann-Laband syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0000208 MONDO:0800450 False microcephaly, short stature, and impaired glucose metabolism 1 microcephaly, short stature, and impaired glucose metabolism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0000209 MONDO:0002320 False prenatal-onset spinal muscular atrophy with congenital bone fractures congenital nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0000209 MONDO:0015168 False prenatal-onset spinal muscular atrophy with congenital bone fractures arthrogryposis multiplex congenita UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0000209 MONDO:0024257 False prenatal-onset spinal muscular atrophy with congenital bone fractures hereditary motor neuron disease UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0000210 MONDO:0019052 False thiopurine metabolic disease inborn errors of metabolism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0000211 MONDO:0003122 False striatal degeneration, autosomal dominant striatonigral degeneration UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0000212 MONDO:0001566 False hypercalcemia, infantile hypercalcemia disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -18817,69 +10776,125 @@ MONDO:0000212 MONDO:0006025 False hypercalcemia, infantile autosomal recessive d MONDO:0000212 MONDO:0019052 False hypercalcemia, infantile inborn errors of metabolism UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0000213 MONDO:0003847 False autoimmune disease, multisystem, infantile-onset hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0000213 MONDO:0007179 False autoimmune disease, multisystem, infantile-onset autoimmune disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0000214 MONDO:0019052 False hypermanganesemia with dystonia inborn errors of metabolism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0000222 MONDO:0001027 False seminal vesicle acute gonorrhea gonococcal seminal vesiculitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0000222 MONDO:0020683 False seminal vesicle acute gonorrhea acute disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0000225 MONDO:0004805 False human monocytic ehrlichiosis leukocyte disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0000225 MONDO:0016003 False human monocytic ehrlichiosis ehrlichiosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0000227 MONDO:0001195 False African tick-bite fever spotted fever UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0000229 MONDO:0005677 False Indian tick typhus Rickettsia conorii infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0000230 MONDO:0005677 False Israeli tick typhus Rickettsia conorii infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0000231 MONDO:0005677 False Far eastern spotted fever Rickettsia conorii infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0000232 MONDO:0001195 False Flinders island spotted fever spotted fever UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0000233 MONDO:0001195 False Japanese spotted fever spotted fever UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0000234 MONDO:0001195 False Rickettsia parkeri spotted fever spotted fever UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0000236 MONDO:0001701 False oropharyngeal anthrax gastrointestinal anthrax UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0000236 MONDO:0020592 False oropharyngeal anthrax disorder of pharynx UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0000236 MONDO:0043424 False oropharyngeal anthrax digestive system infectious disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0000239 MONDO:0000308 False adiaspiromycosis primary systemic mycosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0000239 MONDO:0005766 False adiaspiromycosis fungal lung infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0000240 MONDO:0000266 False invasive aspergillosis pulmonary aspergilloma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0000241 MONDO:0004994 False Keshan disease cardiomyopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0000241 MONDO:0005721 False Keshan disease coxsackievirus infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0000241 MONDO:0006873 False Keshan disease nutritional deficiency disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0000242 MONDO:0004678 False tinea barbae dermatophytosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0000243 MONDO:0004678 False ectothrix infectious disease dermatophytosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0000244 MONDO:0000253 False endothrix infectious disease piedra UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0000244 MONDO:0004678 False endothrix infectious disease dermatophytosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0000245 MONDO:0001461 False tinea imbricata tinea corporis UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0000248 MONDO:0005358 False dengue shock syndrome Dengue hemorrhagic fever UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0000249 MONDO:0001673 False secretory diarrhea diarrheal disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0000250 MONDO:0045030 False osmotic diarrheal disease non-infectious diarrheal disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0000252 MONDO:0000888 False inflammatory diarrhea gastrointestinal mucositis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0000252 MONDO:0001673 False inflammatory diarrhea diarrheal disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0000252 MONDO:0002269 False inflammatory diarrhea gastroenteritis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0000253 MONDO:0002917 False piedra disorder of pilosebaceous unit UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0000253 MONDO:0024268 False piedra superficial mycosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0000253 MONDO:0024481 False piedra skin appendage disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0000254 MONDO:0002041 False cutaneous mycosis fungal infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0000254 MONDO:0002051 False cutaneous mycosis integumentary system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0000255 MONDO:0000254 False subcutaneous mycosis cutaneous mycosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0000256 MONDO:0002041 False systemic mycosis fungal infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0000257 MONDO:0001673 False acute diarrhea diarrheal disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0000257 MONDO:0020683 False acute diarrhea acute disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0000259 MONDO:0005502 False asymptomatic dengue dengue disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0000261 MONDO:0001039 False adenoiditis tonsillitis UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0000261 MONDO:0001040 False adenoiditis nasopharyngitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0000262 MONDO:0004795 False otomycosis otitis externa UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0000262 MONDO:0005982 False otomycosis tinea infection UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0000263 MONDO:0002647 False laryngotracheitis laryngitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0000263 MONDO:0005990 False laryngotracheitis tracheitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0000265 MONDO:0005275 False aspiration pneumonia lung disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0000266 MONDO:0005657 False pulmonary aspergilloma aspergillosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0000266 MONDO:0005766 False pulmonary aspergilloma fungal lung infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0000270 MONDO:0005087 False lower respiratory tract disorder respiratory system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0000271 MONDO:0003619 False tuberculous salpingitis salpingitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0000271 MONDO:0006002 False tuberculous salpingitis urogenital tuberculosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0000273 MONDO:0019376 False Kunjin virus infectous disease West-Nile encephalitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0000276 MONDO:0005763 False Powassan encephalitis Flaviviridae infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0000276 MONDO:0006009 False Powassan encephalitis viral encephalitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0000276 MONDO:0025294 False Powassan encephalitis tick-borne infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0000282 MONDO:0005108 False Whitewater Arroyo hemorrhagic fever viral infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0000282 MONDO:0100120 False Whitewater Arroyo hemorrhagic fever vector-borne disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0000283 MONDO:0005784 False Hantavirus hemorrhagic fever with renal syndrome, Seoul virus type hantavirus hemorrhagic fever with renal syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0000283 MONDO:0100120 False Hantavirus hemorrhagic fever with renal syndrome, Seoul virus type vector-borne disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0000284 MONDO:0005784 False Hantavirus hemorrhagic fever with renal syndrome, Puumala virus type hantavirus hemorrhagic fever with renal syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0000284 MONDO:0100120 False Hantavirus hemorrhagic fever with renal syndrome, Puumala virus type vector-borne disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0000286 MONDO:0005111 False Epstein-Barr virus hepatitis Epstein-Barr virus infection UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0000286 MONDO:0006011 False Epstein-Barr virus hepatitis viral hepatitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0000286 MONDO:0024294 False Epstein-Barr virus hepatitis skin disorder caused by infection UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0000288 MONDO:0005154 False polycystic echinococcosis liver disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0000288 MONDO:0005738 False polycystic echinococcosis echinococcosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0000288 MONDO:0043424 False polycystic echinococcosis digestive system infectious disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0000290 MONDO:0002428 False primary amebic meningoencephalitis protozoa infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0000290 MONDO:0020067 False primary amebic meningoencephalitis infectious encephalitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0000291 MONDO:0002428 False granulomatous amebic encephalitis protozoa infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0000291 MONDO:0020067 False granulomatous amebic encephalitis infectious encephalitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0000291 MONDO:0021747 False granulomatous amebic encephalitis Acanthamoeba infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0000292 MONDO:0005739 False philophthalmiasis echinostomiasis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0000293 MONDO:0000367 False coenurosis taeniasis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0000294 MONDO:0042488 False mesocestoidiasis Cestode infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0000295 MONDO:0004664 False acanthocephaliasis helminthiasis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0000297 MONDO:0005656 False baylisascariasis Ascaridida infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0000298 MONDO:0005745 False dioctophymiasis Enoplea infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0000299 MONDO:0005943 False thelaziasis Rhabditida infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0000301 MONDO:0005805 False ophthalmomyiasis hypodermyiasis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0000302 MONDO:0019136 False basidiobolomycosis Zygomycosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0000303 MONDO:0000255 False conidiobolomycosis subcutaneous mycosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0000303 MONDO:0005982 False conidiobolomycosis tinea infection UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0000304 MONDO:0045033 False penicilliosis opportunistic systemic mycosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0000306 MONDO:0045033 False trichosporonosis opportunistic systemic mycosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0000307 MONDO:0005135 False parasitic Ichthyosporea infectious disease parasitic infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0000308 MONDO:0000256 False primary systemic mycosis systemic mycosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0000309 MONDO:0004892 False aniseikonia refractive error UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0000310 MONDO:0017881 False Alkhurma hemorrhagic fever Kyasanur forest disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0000310 MONDO:0100120 False Alkhurma hemorrhagic fever vector-borne disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0000313 MONDO:0002319 False hypophosphatemia phosphorus metabolism disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0000314 MONDO:0005113 False primary bacterial infectious disease bacterial infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0000315 MONDO:0005113 False commensal bacterial infectious disease bacterial infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0000316 MONDO:0005113 False opportunistic bacterial infectious disease bacterial infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0000320 MONDO:0004928 False glandular tularemia lymph node disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0000327 MONDO:0020590 False Buruli ulcer disease mycobacterial infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0000320 MONDO:0018077 False glandular tularemia tularemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0000321 MONDO:0018077 False typhoidal tularemia tularemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0000327 MONDO:0000314 False Buruli ulcer disease primary bacterial infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0000328 MONDO:0002319 False hyperphosphatemia phosphorus metabolism disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0000330 MONDO:0001246 False endemic typhus typhus UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0000331 MONDO:0001195 False Rickettsia helvetica spotted fever spotted fever UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0000331 MONDO:0025294 False Rickettsia helvetica spotted fever tick-borne infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0000332 MONDO:0000314 False sennetsu fever primary bacterial infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0000332 MONDO:0024416 False sennetsu fever Neorickettsia infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0000333 MONDO:0005714 False early congenital syphilis congenital syphilis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0000334 MONDO:0003847 False multinodular goiter hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0000334 MONDO:0006869 False multinodular goiter nodular goiter UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0000335 MONDO:0004944 False parenchymatous neurosyphilis neurosyphilis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0000336 MONDO:0004944 False meningovascular neurosyphilis neurosyphilis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0000337 MONDO:0006547 False exanthema subitum exanthem UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0000337 MONDO:0024294 False exanthema subitum skin disorder caused by infection UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0000338 MONDO:0004651 False variola major infectious disease smallpox UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0000338 MONDO:0006547 False variola major infectious disease exanthem UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0000338 MONDO:0024294 False variola major infectious disease skin disorder caused by infection UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0000339 MONDO:0000341 False spinal polio paralytic poliomyelitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0000340 MONDO:0000341 False bulbospinal polio paralytic poliomyelitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0000341 MONDO:0017373 False paralytic poliomyelitis poliomyelitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0000342 MONDO:0005643 False O'nyong'nyong fever Alphavirus infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0000342 MONDO:0100120 False O'nyong'nyong fever vector-borne disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0000343 MONDO:0005643 False Barmah forest virus disease Alphavirus infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -18887,507 +10902,1072 @@ MONDO:0000344 MONDO:0005643 False Ross river fever Alphavirus infectious disease MONDO:0000344 MONDO:0100120 False Ross river fever vector-borne disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0000345 MONDO:0021641 False Oropouche fever Bunyaviridae infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0000345 MONDO:0100120 False Oropouche fever vector-borne disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0000346 MONDO:0005784 False Hantavirus hemorrhagic fever with renal syndrome, Dobrava-Belgrade virus type hantavirus hemorrhagic fever with renal syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0000346 MONDO:0100120 False Hantavirus hemorrhagic fever with renal syndrome, Dobrava-Belgrade virus type vector-borne disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0000351 MONDO:0004736 False disorder of methionine catabolism inborn disorder of amino acid metabolism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0000351 MONDO:0019222 False disorder of methionine catabolism inborn disorder of methionine cycle and sulfur amino acid metabolism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0000351 MONDO:0037938 False disorder of methionine catabolism inborn disorder of aspartate family metabolism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0000355 MONDO:0019950 False Ullrich congenital muscular dystrophy congenital muscular dystrophy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0000355 MONDO:0019952 False Ullrich congenital muscular dystrophy congenital myopathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS MONDO:0000358 MONDO:0003847 False orofacial cleft hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0000358 MONDO:0023369 False orofacial cleft disorder of facial skeleton UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0000359 MONDO:0000812 False spondylocostal dysostosis vertebral column disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0000359 MONDO:0003847 False spondylocostal dysostosis hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0000365 MONDO:0020366 False primary congenital glaucoma congenital glaucoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0000363 MONDO:0004497 False gummatous syphilis tertiary syphilis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0000367 MONDO:0024271 False taeniasis intestinal helminthiasis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0000367 MONDO:0042488 False taeniasis Cestode infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0000368 MONDO:0018076 False extrapulmonary tuberculosis tuberculosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0000369 MONDO:0000368 False abdominal tuberculosis extrapulmonary tuberculosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0000373 MONDO:0003220 False gall bladder carcinoma in situ gallbladder carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0000373 MONDO:0004647 False gall bladder carcinoma in situ in situ carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0000374 MONDO:0004715 False bile duct carcinoma in situ liver carcinoma in situ UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0000374 MONDO:0005496 False bile duct carcinoma in situ bile duct carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0000375 MONDO:0002806 False bronchus carcinoma in situ bronchogenic carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0000375 MONDO:0004660 False bronchus carcinoma in situ lung carcinoma in situ UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0000376 MONDO:0004992 False respiratory system cancer cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0000376 MONDO:0005087 False respiratory system cancer respiratory system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0000377 MONDO:0002149 False malignant Leydig cell tumor reproductive system cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0000378 MONDO:0002149 False malignant Sertoli cell tumor reproductive system cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0000380 MONDO:0002415 False paranasal sinus carcinoma bone carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0000381 MONDO:0004010 False infiltrating renal pelvis transitional cell carcinoma infiltrating renal pelvis/ureter urothelial carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0000381 MONDO:0005221 False infiltrating renal pelvis transitional cell carcinoma renal pelvis urothelial carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0000382 MONDO:0005087 False respiratory system benign neoplasm respiratory system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0000382 MONDO:0005165 False respiratory system benign neoplasm benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0000387 MONDO:0001245 False hypochromic microcytic anemia microcytic anemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0000387 MONDO:0001357 False hypochromic microcytic anemia hypochromic anemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0000389 MONDO:0003847 False atelosteogenesis hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0000390 MONDO:0020242 False vitelliform macular dystrophy hereditary macular dystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0000389 MONDO:0005516 False atelosteogenesis osteochondrodysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0000390 MONDO:0003004 False vitelliform macular dystrophy macular degeneration UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0000393 MONDO:0000408 False partial fetal alcohol syndrome fetal alcohol spectrum disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0000395 MONDO:0000408 False alcohol-related birth defect fetal alcohol spectrum disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0000405 MONDO:0005814 False anal canal cancer intestinal cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0000405 MONDO:0024634 False anal canal cancer large intestine disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0000407 MONDO:0006294 False malignant pleural solitary fibrous tumor pleural cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0000407 MONDO:0021041 False malignant pleural solitary fibrous tumor pleural solitary fibrous tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0000408 MONDO:0000592 False fetal alcohol spectrum disorder specific developmental disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0000408 MONDO:0002326 False fetal alcohol spectrum disorder alcohol-induced mental disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0000408 MONDO:0021699 False fetal alcohol spectrum disorder alcohol-induced disorders UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0000409 MONDO:0005113 False chorioamnionitis bacterial infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0000409 MONDO:0021166 False chorioamnionitis inflammatory disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0000409 MONDO:0045013 False chorioamnionitis disorder of extraembryonic membrane UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0000410 MONDO:0021562 False funisitis omphalitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000410 MONDO:0024575 False funisitis pregnancy disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0000411 MONDO:0005027 False electroclinical syndrome epilepsy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0000412 MONDO:0000411 False neonatal period electroclinical syndrome electroclinical syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0000413 MONDO:0000411 False infancy electroclinical syndrome electroclinical syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0000414 MONDO:0000411 False childhood electroclinical syndrome electroclinical syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0000415 MONDO:0000411 False adolescence-adult electroclinical syndrome electroclinical syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0000417 MONDO:0000414 False early onset absence epilepsy childhood electroclinical syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0000417 MONDO:0850093 False early onset absence epilepsy absence epilepsy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0000421 MONDO:0019239 False inborn serine deficiency inborn disorder of serine family metabolism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0000424 MONDO:0005528 False inborn vitamin B12 deficiency inborn vitamin metabolic disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0000424 MONDO:0020696 False inborn vitamin B12 deficiency vitamin B12 deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000437 MONDO:0005395 False cerebellar ataxia movement disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0000426 MONDO:0000429 False autosomal dominant disease autosomal genetic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0000428 MONDO:0003847 False Y-linked disease hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0000429 MONDO:0003847 False autosomal genetic disease hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0000437 MONDO:0002427 False cerebellar ataxia cerebellar disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0000437 MONDO:0100308 False cerebellar ataxia atactic disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0000440 MONDO:0006022 False metabolic acidosis acidosis disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0000446 MONDO:0005516 False midface dysplasia osteochondrodysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0000447 MONDO:0000426 False autosomal dominant polycystic liver disease autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0000448 MONDO:0003847 False paraganglioma hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0000448 MONDO:0021635 False paraganglioma neurocristopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0000450 MONDO:0005284 False secondary progressive multiple sclerosis chronic progressive multiple sclerosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0000451 MONDO:0005284 False primary progressive multiple sclerosis chronic progressive multiple sclerosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0000452 MONDO:0005284 False progressive relapsing multiple sclerosis chronic progressive multiple sclerosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0000453 MONDO:0000992 False short QT syndrome heart conduction disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0000453 MONDO:0003847 False short QT syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0000455 MONDO:0020242 False cone dystrophy hereditary macular dystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0000456 MONDO:0004736 False cerebral creatine deficiency syndrome inborn disorder of amino acid metabolism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0000456 MONDO:0015653 False cerebral creatine deficiency syndrome monogenic epilepsy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0000456 MONDO:0019189 False cerebral creatine deficiency syndrome inborn disorder of amino acid and other organic acid metabolism UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0000456 MONDO:0019243 False cerebral creatine deficiency syndrome inborn disorder of energy metabolism UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0000456 MONDO:0045022 False cerebral creatine deficiency syndrome disorder of organic acid metabolism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0000456 MONDO:0100033 False cerebral creatine deficiency syndrome metabolic epilepsy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0000461 MONDO:0020699 False nutritional biotin deficiency biotin metabolic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0000461 MONDO:0024298 False nutritional biotin deficiency vitamin deficiency disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0000462 MONDO:0002022 False eye adnexa disorder disorder of orbital region UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0000463 MONDO:0006025 False Ochoa syndrome autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0000465 MONDO:0000992 False atrioventricular block heart conduction disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0000465 MONDO:0008848 False atrioventricular block atrioventricular dissociation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000466 MONDO:0007263 False first-degree atrioventricular block cardiac rhythm disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000467 MONDO:0007263 False second-degree atrioventricular block cardiac rhythm disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000468 MONDO:0007263 False third-degree atrioventricular block cardiac rhythm disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0000466 MONDO:0000465 False first-degree atrioventricular block atrioventricular block UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0000467 MONDO:0000465 False second-degree atrioventricular block atrioventricular block UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0000468 MONDO:0000465 False third-degree atrioventricular block atrioventricular block UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0000469 MONDO:0000992 False sinoatrial node disorder heart conduction disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0000469 MONDO:0005449 False sinoatrial node disorder conduction system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0000470 MONDO:0005267 False endocardium disorder heart disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0000474 MONDO:0005267 False pericardium disorder heart disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0000476 MONDO:0015494 False generalized dystonia isolated dystonia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0000477 MONDO:0003441 False focal dystonia dystonic disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0000478 MONDO:0003441 False multifocal dystonia dystonic disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0000479 MONDO:0003441 False segmental dystonia dystonic disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0000480 MONDO:0000477 False anismus focal dystonia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0000480 MONDO:0020120 False anismus skeletal muscle disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0000481 MONDO:0000477 False cervical dystonia focal dystonia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0000482 MONDO:0000477 False focal hand dystonia focal dystonia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0000483 MONDO:0000477 False oculogyric crisis focal dystonia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0000485 MONDO:0000477 False spasmodic dystonia focal dystonia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0000485 MONDO:0004382 False spasmodic dystonia laryngeal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0000486 MONDO:0000477 False craniofacial dystonia focal dystonia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0000487 MONDO:0000478 False hemidystonia multifocal dystonia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0000488 MONDO:0021303 False periampullary adenoma adenoma of small intestine UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0000488 MONDO:0021375 False periampullary adenoma tumor of duodenum UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0000489 MONDO:0005560 False diabetic encephalopathy brain disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0000490 MONDO:0019722 False glomerulosclerosis glomerular disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0000491 MONDO:0005053 False limb ischemia ischemic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0000492 MONDO:0000945 False chronic venous insufficiency venous insufficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0000494 MONDO:0000490 False renal fibrosis glomerulosclerosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0000497 MONDO:0021166 False pyometritis inflammatory disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0000495 MONDO:0000592 False oppositional defiant disorder specific developmental disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0000497 MONDO:0002654 False pyometritis uterine disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0000498 MONDO:0006649 False arteritic anterior ischemic optic neuropathy anterior ischemic optic neuropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0000498 MONDO:0008538 False arteritic anterior ischemic optic neuropathy temporal arteritis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0000499 MONDO:0006649 False non-arteritic anterior ischemic optic neuropathy anterior ischemic optic neuropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0000502 MONDO:0024276 False villous adenoma glandular cell neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0000503 MONDO:0004660 False lung adenocarcinoma in situ lung carcinoma in situ UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0000507 MONDO:0002254 False inclusion body myopathy with Paget disease of bone and frontotemporal dementia syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0000507 MONDO:0016112 False inclusion body myopathy with Paget disease of bone and frontotemporal dementia hereditary inclusion-body myopathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0000507 MONDO:0017276 False inclusion body myopathy with Paget disease of bone and frontotemporal dementia frontotemporal dementia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0000508 MONDO:0001071 False syndromic intellectual disability intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0000508 MONDO:0002254 False syndromic intellectual disability syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0000509 MONDO:0001071 False non-syndromic intellectual disability intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0000510 MONDO:0019052 False synucleinopathy inborn errors of metabolism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0000510 MONDO:0021179 False synucleinopathy proteostasis deficiencies UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0000510 MONDO:0024237 False synucleinopathy inherited neurodegenerative disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0000513 MONDO:0000631 False bone ameloblastoma bone benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0000513 MONDO:0017795 False bone ameloblastoma ameloblastoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0000514 MONDO:0002415 False bone squamous cell carcinoma bone carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0000514 MONDO:0005096 False bone squamous cell carcinoma squamous cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0000515 MONDO:0002129 False bone chondrosarcoma bone cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0000515 MONDO:0008977 False bone chondrosarcoma chondrosarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0000516 MONDO:0000631 False phalanx chondroma bone benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0000516 MONDO:0002360 False phalanx chondroma chondroma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0000517 MONDO:0007959 False brain stem medulloblastoma medulloblastoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0000517 MONDO:0021228 False brain stem medulloblastoma brainstem neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0000518 MONDO:0000812 False sacrum chordoma vertebral column disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0000518 MONDO:0002894 False sacrum chordoma spinal chordoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0000519 MONDO:0002544 False corpus callosum oligodendroglioma brain oligodendroglioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0000519 MONDO:0002731 False corpus callosum oligodendroglioma cerebral hemisphere cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0000520 MONDO:0001952 False parietal lobe ependymal tumor parietal lobe cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0000520 MONDO:0004245 False parietal lobe ependymal tumor ependymal tumor of brain UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0000521 MONDO:0044925 False salivary gland carcinoma oral cavity carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0000524 MONDO:0003113 False mixed extragonadal germ cell cancer extragonadal germ cell cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0000524 MONDO:0015864 False mixed extragonadal germ cell cancer mixed germ cell tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0000527 MONDO:0024479 False colon adenoma epithelial tumor of colon UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0000530 MONDO:0024476 False rectum adenoma epithelial neoplasm of rectum UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0000531 MONDO:0002806 False bronchus mucoepidermoid carcinoma bronchogenic carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0000531 MONDO:0005616 False bronchus mucoepidermoid carcinoma pulmonary mucoepidermoid carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0000532 MONDO:0003438 False lung combined type small cell adenocarcinoma combined small cell lung carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0000532 MONDO:0005061 False lung combined type small cell adenocarcinoma lung adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0000534 MONDO:0003036 False trachea mucoepidermoid carcinoma mucoepidermoid carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0000534 MONDO:0003184 False trachea mucoepidermoid carcinoma trachea carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0000535 MONDO:0021337 False tonsil squamous cell carcinoma tonsil carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0000535 MONDO:0044704 False tonsil squamous cell carcinoma oropharynx squamous cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0000539 MONDO:0002728 False striated muscle rhabdoid tumor rhabdoid tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0000539 MONDO:0003939 False striated muscle rhabdoid tumor muscle tissue disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0000539 MONDO:0005864 False striated muscle rhabdoid tumor muscle cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0000541 MONDO:0006815 False jejunal adenocarcinoma jejunal cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0000543 MONDO:0005191 False ovarian melanoma metastatic melanoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0000545 MONDO:0021070 False sublingual gland adenoid cystic carcinoma sublingual gland carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0000545 MONDO:0045063 False sublingual gland adenoid cystic carcinoma major salivary gland adenoid cystic carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0000549 MONDO:0002749 False cervical neuroblastoma extracranial neuroblastoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0000549 MONDO:0021351 False cervical neuroblastoma neoplasm of neck UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0000551 MONDO:0005072 False retroperitoneal neuroblastoma neuroblastoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0000551 MONDO:0024645 False retroperitoneal neuroblastoma retroperitoneal neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0000553 MONDO:0002447 False uterine corpus endometrial carcinoma endometrial carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0000577 MONDO:0002280 False congenital anemia anemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000577 MONDO:0009332 False congenital anemia congenital hematological disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0000553 MONDO:0006003 False uterine corpus endometrial carcinoma uterine corpus cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0000554 MONDO:0004259 False endocervical adenocarcinoma endocervical carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0000563 MONDO:0020380 False GRID2-related autosomal dominant spinocerebellar ataxia autosomal dominant cerebellar ataxia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0000565 MONDO:0005550 False infective endocarditis infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0000568 MONDO:0002602 False autoimmune disorder of central nervous system central nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0000568 MONDO:0002977 False autoimmune disorder of central nervous system autoimmune disorder of the nervous system UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0000569 MONDO:0005151 False autoimmune disorder of endocrine system endocrine system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0000569 MONDO:0007179 False autoimmune disorder of endocrine system autoimmune disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0000572 MONDO:0015974 False recombinase activating gene 1 deficiency severe combined immunodeficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0000573 MONDO:0015974 False recombinase activating gene 2 deficiency severe combined immunodeficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0000583 MONDO:0002211 False immunoglobulin beta deficiency B cell deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0000584 MONDO:0015977 False B cell linker protein deficiency agammaglobulinemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0000586 MONDO:0007179 False autoimmune disorder of exocrine system autoimmune disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0000587 MONDO:0007179 False autoimmune disease of ear, nose and throat autoimmune disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0000587 MONDO:0024623 False autoimmune disease of ear, nose and throat otorhinolaryngologic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0000588 MONDO:0004335 False autoimmune disorder of gastrointestinal tract digestive system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0000588 MONDO:0007179 False autoimmune disorder of gastrointestinal tract autoimmune disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0000589 MONDO:0002081 False autoimmune disorder of musculoskeletal system musculoskeletal system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0000589 MONDO:0007179 False autoimmune disorder of musculoskeletal system autoimmune disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0000590 MONDO:0002977 False autoimmune disorder of peripheral nervous system autoimmune disorder of the nervous system UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0000590 MONDO:0003620 False autoimmune disorder of peripheral nervous system peripheral nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0000591 MONDO:0004994 False intrinsic cardiomyopathy cardiomyopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0000592 MONDO:0005503 False specific developmental disorder developmental disorder of mental health UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0000594 MONDO:0005503 False pervasive developmental disorder developmental disorder of mental health UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0000594 MONDO:0100038 False pervasive developmental disorder complex neurodevelopmental disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0000596 MONDO:0000947 False paraphilic disorder psychosexual disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0000597 MONDO:0002103 False Munchausen by proxy factitious disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0000598 MONDO:0004750 False aphasia language disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0000599 MONDO:0004681 False writing disorder learning disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0000600 MONDO:0012000 False nosophobia specific phobia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0000602 MONDO:0005570 False autoimmune disorder of blood hematologic disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0000602 MONDO:0007179 False autoimmune disorder of blood autoimmune disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0000603 MONDO:0004995 False autoimmune disorder of cardiovascular system cardiovascular disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0000603 MONDO:0007179 False autoimmune disorder of cardiovascular system autoimmune disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0000608 MONDO:0100191 False familial juvenile hyperuricemic nephropathy inherited kidney disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0000610 MONDO:0000831 False marantic endocarditis thrombotic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0000610 MONDO:0001531 False marantic endocarditis blood coagulation disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0000610 MONDO:0005025 False marantic endocarditis endocarditis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0000611 MONDO:0005070 False pre-malignant neoplasm neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0000611 MONDO:0021074 False pre-malignant neoplasm precancerous condition UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0000612 MONDO:0000621 False lymphatic system cancer immune system cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0000612 MONDO:0005833 False lymphatic system cancer lymphatic system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0000615 MONDO:0006116 False progesterone-receptor positive breast cancer breast carcinoma by gene expression profile UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0000616 MONDO:0006116 False progesterone-receptor negative breast cancer breast carcinoma by gene expression profile UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0000618 MONDO:0006116 False Her2-receptor negative breast cancer breast carcinoma by gene expression profile UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0000620 MONDO:0000634 False breast benign neoplasm thoracic benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0000621 MONDO:0004992 False immune system cancer cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0000621 MONDO:0005046 False immune system cancer immune system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0000626 MONDO:0000643 False vestibular gland benign neoplasm vulvar benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0000628 MONDO:0000648 False central nervous system organ benign neoplasm nervous system benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0000628 MONDO:0006130 False central nervous system organ benign neoplasm central nervous system neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0000629 MONDO:0005165 False cardiovascular organ benign neoplasm benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0000629 MONDO:0024757 False cardiovascular organ benign neoplasm cardiovascular neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0000630 MONDO:0005046 False immune system organ benign neoplasm immune system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0000630 MONDO:0005165 False immune system organ benign neoplasm benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0000633 MONDO:0000648 False sensory organ benign neoplasm nervous system benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0000636 MONDO:0002081 False musculoskeletal system benign neoplasm musculoskeletal system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0000636 MONDO:0005165 False musculoskeletal system benign neoplasm benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0000637 MONDO:0002081 False musculoskeletal system cancer musculoskeletal system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0000637 MONDO:0004992 False musculoskeletal system cancer cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0000639 MONDO:0002129 False cartilage cancer bone cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0000640 MONDO:0005462 False central nervous system primitive neuroectodermal neoplasm primitive neuroectodermal tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0000642 MONDO:0016642 False brain meningioma meningioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0000642 MONDO:0021211 False brain meningioma brain neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0000649 MONDO:0005872 False sensory system cancer nervous system cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0000652 MONDO:0002051 False integumentary system benign neoplasm integumentary system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0000652 MONDO:0005165 False integumentary system benign neoplasm benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0000653 MONDO:0002051 False integumentary system cancer integumentary system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0000653 MONDO:0004992 False integumentary system cancer cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0000654 MONDO:0000636 False benign connective and soft tissue neoplasm musculoskeletal system benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0000654 MONDO:0003900 False benign connective and soft tissue neoplasm connective tissue disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0000659 MONDO:0019464 False delta-heavy chain disease heavy chain disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0000660 MONDO:0005084 False akinetopsia mental disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0000660 MONDO:0005638 False akinetopsia agnosia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0000660 MONDO:0019056 False akinetopsia neuromuscular disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0000661 MONDO:0005638 False alexithymia agnosia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0000662 MONDO:0005638 False amusia agnosia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0000663 MONDO:0005638 False anosognosia agnosia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0000664 MONDO:0000685 False apperceptive agnosia visual agnosia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0000665 MONDO:0024417 False apraxia perceptual disorders UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0000666 MONDO:0000685 False associative visual agnosia visual agnosia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0000667 MONDO:0005638 False auditory agnosia agnosia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0000667 MONDO:0024422 False auditory agnosia auditory perceptual disorders UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0000668 MONDO:0005638 False autotopagnosia agnosia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0000669 MONDO:0000685 False color agnosia visual agnosia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0000670 MONDO:0000667 False cortical deafness auditory agnosia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0000671 MONDO:0005638 False finger agnosia agnosia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0000672 MONDO:0000685 False form agnosia visual agnosia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0000673 MONDO:0005638 False integrative agnosia agnosia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0000674 MONDO:0005638 False mirror agnosia agnosia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0000675 MONDO:0005084 False pain agnosia mental disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0000675 MONDO:0005638 False pain agnosia agnosia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0000676 MONDO:0005638 False phonagnosia agnosia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0000677 MONDO:0005638 False semantic agnosia agnosia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0000678 MONDO:0005638 False simultanagnosia agnosia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0000679 MONDO:0005638 False social emotional agnosia agnosia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0000680 MONDO:0005638 False astereognosia agnosia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0000681 MONDO:0005084 False tactile agnosia mental disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0000681 MONDO:0005638 False tactile agnosia agnosia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0000682 MONDO:0005638 False time agnosia agnosia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0000683 MONDO:0000685 False topographical agnosia visual agnosia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0000684 MONDO:0000667 False verbal auditory agnosia auditory agnosia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0000685 MONDO:0005084 False visual agnosia mental disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000685 MONDO:0021084 False visual agnosia vision disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0000685 MONDO:0005638 False visual agnosia agnosia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0000686 MONDO:0000685 False alexia without agraphia visual agnosia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0000687 MONDO:0005340 False diffuse alopecia areata alopecia areata UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0000688 MONDO:0004736 False inborn organic aciduria inborn disorder of amino acid metabolism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0000690 MONDO:0003117 False body dysmorphic disorder somatoform disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0000693 MONDO:0004985 False bipolar II disorder bipolar disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0000694 MONDO:0002050 False seasonal affective disorder depressive disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0000698 MONDO:0004736 False gamma-amino butyric acid metabolism disorder inborn disorder of amino acid metabolism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0000698 MONDO:0019189 False gamma-amino butyric acid metabolism disorder inborn disorder of amino acid and other organic acid metabolism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0000698 MONDO:0037871 False gamma-amino butyric acid metabolism disorder amino acid metabolism disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0000700 MONDO:0003847 False familial hemiplegic migraine hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0000700 MONDO:0018925 False familial hemiplegic migraine familial or sporadic hemiplegic migraine UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0000701 MONDO:0005292 False ischemic colitis colitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0000701 MONDO:0005385 False ischemic colitis vascular disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0000705 MONDO:0005113 False Clostridium difficile colitis bacterial infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0000705 MONDO:0006039 False Clostridium difficile colitis infectious colitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0000706 MONDO:0005292 False chemical colitis colitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0000707 MONDO:0005292 False diversion colitis colitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0000708 MONDO:0000709 False Crohn jejunoileitis Crohn ileitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0000708 MONDO:0021207 False Crohn jejunoileitis Crohn jejunitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0000709 MONDO:0005539 False Crohn ileitis small bowel Crohn disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0000710 MONDO:0004627 False gastroduodenal Crohn disease duodenitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0000710 MONDO:0004966 False gastroduodenal Crohn disease gastritis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0000710 MONDO:0005539 False gastroduodenal Crohn disease small bowel Crohn disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0000715 MONDO:0001082 False lymph node adenoid cystic carcinoma lymph node cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0000715 MONDO:0004971 False lymph node adenoid cystic carcinoma adenoid cystic carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0000716 MONDO:0000599 False agraphia writing disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0000721 MONDO:0005066 False xanthinuria metabolic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0000722 MONDO:0019530 False non-syndromic synpolydactyly non-syndromic syndactyly UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0000722 MONDO:0021651 False non-syndromic synpolydactyly synpolydactyly UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0000723 MONDO:0003847 False stutter disorder hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0000723 MONDO:0004750 False stutter disorder language disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0000723 MONDO:0004730 False stutter disorder speech disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0000724 MONDO:0003847 False specific language impairment hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0000724 MONDO:0004750 False specific language impairment language disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0000726 MONDO:0005392 False idiopathic scoliosis scoliosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0000726 MONDO:0700007 False idiopathic scoliosis idiopathic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0000727 MONDO:0016830 False scapuloperoneal myopathy Emery-Dreifuss muscular dystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0000728 MONDO:0005328 False ptosis eye disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0000732 MONDO:0016387 False combined oxidative phosphorylation deficiency mitochondrial oxidative phosphorylation disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0000733 MONDO:0000942 False cornea plana corneal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0000733 MONDO:0003847 False cornea plana hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0000734 MONDO:0017393 False Ohdo syndrome and variants blepharophimosis - intellectual disability syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0000736 MONDO:0019289 False dyschromatosis universalis hereditaria hyperpigmentation of the skin UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0000736 MONDO:0100118 False dyschromatosis universalis hereditaria hereditary skin disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000739 MONDO:0006858 False uvulitis mouth disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0000739 MONDO:0004867 False uvulitis upper respiratory tract disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0000739 MONDO:0021166 False uvulitis inflammatory disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0000740 MONDO:0004867 False adenoid hypertrophy upper respiratory tract disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0000740 MONDO:0006858 False adenoid hypertrophy mouth disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0000743 MONDO:0021674 False oral hairy leukoplakia post-viral disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000744 MONDO:0005227 False lung abscess abscess UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0000744 MONDO:0024355 False lung abscess respiratory tract infectious disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0000745 MONDO:0007263 False cardiac arrest cardiac rhythm disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000748 MONDO:0021166 False mastoiditis inflammatory disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0000748 MONDO:0002614 False mastoiditis bone inflammation disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0000749 MONDO:0002657 False breast abscess breast disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0000749 MONDO:0005227 False breast abscess abscess UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000751 MONDO:0004701 False cervical polyp uterine polyp UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0000750 MONDO:0006999 False dental abscess tooth disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0000754 MONDO:0001593 False anal fistula rectal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0000756 MONDO:0009993 False parameningeal embryonal rhabdomyosarcoma embryonal rhabdomyosarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0000757 MONDO:0024651 False glucocorticoid-induced osteoporosis corticosteroid-induced osteoporosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0000758 MONDO:0005664 False bacillary angiomatosis bartonellosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0000758 MONDO:0021440 False bacillary angiomatosis benign neoplasm of skin UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0000758 MONDO:0024295 False bacillary angiomatosis skin disease caused by bacterial infection UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0000758 MONDO:0024461 False bacillary angiomatosis angiomatosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0000761 MONDO:0019040 False syndrome caused by partial chromosomal deletion chromosomal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0000762 MONDO:0019040 False syndrome caused by partial chromosomal duplication chromosomal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0000763 MONDO:0018102 False epithelial and subepithelial corneal dystrophy corneal dystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0000764 MONDO:0003847 False epithelial-stromal TGFBI dystrophy hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0000764 MONDO:0018102 False epithelial-stromal TGFBI dystrophy corneal dystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0000766 MONDO:0018102 False corneal endothelial dystrophy corneal dystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0000771 MONDO:0005087 False allergic respiratory disease respiratory system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0000771 MONDO:0005271 False allergic respiratory disease allergic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0000774 MONDO:0000590 False autoimmune neuropathy autoimmune disorder of peripheral nervous system UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0000774 MONDO:0005244 False autoimmune neuropathy peripheral neuropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0000775 MONDO:0005271 False drug allergy allergic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0000777 MONDO:0005271 False gastrointestinal allergy allergic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0000807 MONDO:0005271 False latex allergy allergic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0000809 MONDO:0001243 False purpura fulminans disseminated intravascular coagulation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0000809 MONDO:0002610 False purpura fulminans purpura UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0000811 MONDO:0001389 False anomalous left coronary artery from the pulmonary artery congenital coronary artery anomaly UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0000812 MONDO:0005172 False vertebral column disorder skeletal system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0000813 MONDO:0000368 False cardiac tuberculosis extrapulmonary tuberculosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0000813 MONDO:0005267 False cardiac tuberculosis heart disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0000815 MONDO:0000592 False fetal nicotine spectrum disorder specific developmental disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0000816 MONDO:0003916 False abdominal obesity-metabolic syndrome overnutrition UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0000816 MONDO:0019052 False abdominal obesity-metabolic syndrome inborn errors of metabolism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0000819 MONDO:0002320 False anencephaly congenital nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0000819 MONDO:0003847 False anencephaly hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0000820 MONDO:0002320 False cerebral cavernous malformation congenital nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0000824 MONDO:0001673 False congenital diarrhea diarrheal disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0000824 MONDO:0003847 False congenital diarrhea hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0000827 MONDO:0000314 False salmonellosis primary bacterial infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0000828 MONDO:0017279 False juvenile-onset Parkinson disease young-onset Parkinson disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0000833 MONDO:0005381 False bone remodeling disease bone disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0000836 MONDO:0005381 False disease of bone structure bone disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0000837 MONDO:0000833 False bone resorption disease bone remodeling disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0000840 MONDO:0018373 False dysbaric osteonecrosis avascular necrosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0000845 MONDO:0000833 False fibrous dysplasia bone remodeling disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0000849 MONDO:0002254 False fibrogenesis imperfecta ossium syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0000858 MONDO:0003409 False neuronal intestinal dysplasia colonic disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0000863 MONDO:0000577 False myopathy, lactic acidosis, and sideroblastic anemia congenital anemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0000863 MONDO:0009637 False myopathy, lactic acidosis, and sideroblastic anemia inborn mitochondrial myopathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0000863 MONDO:0016387 False myopathy, lactic acidosis, and sideroblastic anemia mitochondrial oxidative phosphorylation disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0000863 MONDO:0020099 False myopathy, lactic acidosis, and sideroblastic anemia inherited sideroblastic anemia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0000866 MONDO:0005336 False hereditary myoglobinuria myopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0000870 MONDO:0003659 False childhood acute lymphoblastic leukemia pediatric lymphoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0000878 MONDO:0005132 False cytomegalovirus retinitis cytomegalovirus infection UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0000872 MONDO:0000621 False B-cell childhood acute lymphoblastic leukemia immune system cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0000878 MONDO:0016047 False cytomegalovirus retinitis endophthalmitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0000878 MONDO:0020010 False cytomegalovirus retinitis infectious disorder of the nervous system UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0000878 MONDO:0020950 False cytomegalovirus retinitis viral eye infection UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0000879 MONDO:0002026 False cutaneous candidiasis candidiasis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0000879 MONDO:0005982 False cutaneous candidiasis tinea infection UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000888 MONDO:0020579 False gastrointestinal mucositis mucositis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0000884 MONDO:0015688 False myeloid and lymphoid neoplasms associated with FGFR1 abnormalities myeloid/lymphoid neoplasms associated with eosinophilia and abnormality of PDGFRA, PDGFRB, FGFR1 or JAK2 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0000888 MONDO:0004335 False gastrointestinal mucositis digestive system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0000889 MONDO:0006670 False haemophilus meningitis bacterial meningitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0000889 MONDO:0006926 False haemophilus meningitis haemophilus infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0000890 MONDO:0005108 False Zika virus congenital syndrome viral infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0000890 MONDO:0021670 False Zika virus congenital syndrome post-infectious syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0000890 MONDO:0021674 False Zika virus congenital syndrome post-viral disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0000890 MONDO:0100120 False Zika virus congenital syndrome vector-borne disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0000891 MONDO:0006210 False mixed fibrolamellar hepatocellular carcinoma fibrolamellar hepatocellular carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0000894 MONDO:0004991 False mucinous bronchioloalveolar adenocarcinoma minimally invasive lung adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0000894 MONDO:0027772 False mucinous bronchioloalveolar adenocarcinoma lung colloid adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0000895 MONDO:0004991 False nonmucinous bronchioloalveolar adenocarcinoma minimally invasive lung adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0000898 MONDO:0006500 False malignant hemangioma hemangioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0000901 MONDO:0018905 False relapsed/refractory diffuse large B-cell lymphoma diffuse large B-cell lymphoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0000902 MONDO:0024237 False agenesis of the corpus callosum with peripheral neuropathy inherited neurodegenerative disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0000903 MONDO:0020065 False myoclonus-dystonia syndrome combined dystonia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0000904 MONDO:0003847 False complex cortical dysplasia with other brain malformations hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0000904 MONDO:0005560 False complex cortical dysplasia with other brain malformations brain disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0000904 MONDO:0021147 False complex cortical dysplasia with other brain malformations disorder of development or morphogenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000904 MONDO:0045024 False complex cortical dysplasia with other brain malformations cancer or benign tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0000909 MONDO:0019524 False Bartter disease type 4B Bartter syndrome type 4 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0000910 MONDO:0020605 False retinitis pigmentosa 6 X-linked recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0000913 MONDO:0019350 False hereditary spherocytosis type 2 hereditary spherocytosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0000916 MONDO:0000888 False intestinal infectious disease gastrointestinal mucositis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0000916 MONDO:0002269 False intestinal infectious disease gastroenteritis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0000916 MONDO:0043424 False intestinal infectious disease digestive system infectious disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0000918 MONDO:0020579 False endometritis mucositis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0000919 MONDO:0000920 False ampulla of vater cancer duodenum cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0000919 MONDO:0021321 False ampulla of vater cancer malignant tumor of extrahepatic bile duct UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0000921 MONDO:0006709 False ampulla of vater neoplasm common bile duct neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0000921 MONDO:0021375 False ampulla of vater neoplasm tumor of duodenum UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000922 MONDO:0021166 False pelvic inflammatory disease inflammatory disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0000924 MONDO:0004849 False compensatory emphysema pulmonary emphysema UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0000925 MONDO:0004849 False hyperlucent lung pulmonary emphysema UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0000926 MONDO:0005328 False eye accommodation disease eye disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0000927 MONDO:0004944 False asymptomatic neurosyphilis neurosyphilis UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0000928 MONDO:0005012 False eyelid melanoma cutaneous melanoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0000936 MONDO:0007000 False syphilitic meningitis Treponema infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0000936 MONDO:0041825 False syphilitic meningitis bacterial meningitis caused by gram-negative bacteria UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0000937 MONDO:0007000 False syphilitic encephalitis Treponema infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0000937 MONDO:0020067 False syphilitic encephalitis infectious encephalitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000939 MONDO:0005227 False intracranial abscess abscess UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0000939 MONDO:0024619 False intracranial abscess central nervous system infectious disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0000941 MONDO:0003382 False eyelid degenerative disorder eyelid disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0000941 MONDO:0004884 False eyelid degenerative disorder eye degenerative disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0000943 MONDO:0015486 False acute hydrops keratoconus keratoconus UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0000943 MONDO:0020683 False acute hydrops keratoconus acute disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0000944 MONDO:0011057 False cerebral artery occlusion cerebrovascular disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0000944 MONDO:0020673 False cerebral artery occlusion arterial occlusion UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0000945 MONDO:0004634 False venous insufficiency vein disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0000945 MONDO:0020674 False venous insufficiency vascular insufficiency disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0000946 MONDO:0000947 False psychologic vaginismus psychosexual disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0000946 MONDO:0021723 False psychologic vaginismus vaginismus UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0000947 MONDO:0000595 False psychosexual disorder sexual and gender identity disorders UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0000947 MONDO:0005084 False psychosexual disorder mental disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0000948 MONDO:0006733 False xerophthalmia dry eye syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0000949 MONDO:0006170 False conjunctival degeneration conjunctival disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0000950 MONDO:0005328 False asthenopia eye disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0000953 MONDO:0002129 False cancer of short bone of lower limb bone cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0000954 MONDO:0000955 False Meckel diverticulum cancer ileum cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0000954 MONDO:0021082 False Meckel diverticulum cancer Meckel diverticulum neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0000955 MONDO:0000956 False ileum cancer small intestine cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0000955 MONDO:0006801 False ileum cancer ileal neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0000957 MONDO:0001854 False lacrimal passage granuloma lacrimal apparatus disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0000958 MONDO:0002122 False neuroretinitis neuritis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0000958 MONDO:0003579 False neuroretinitis retinal nerve fiber layer disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0000958 MONDO:0006879 False neuroretinitis optic papillitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0000959 MONDO:0006846 False malignant hypertensive renal disease malignant hypertension UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0000959 MONDO:0024633 False malignant hypertensive renal disease hypertensive nephropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0000960 MONDO:0005294 False diabetic peripheral angiopathy peripheral vascular disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0000961 MONDO:0000382 False endobronchial lipoma respiratory system benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0000961 MONDO:0002807 False endobronchial lipoma bronchial neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0000962 MONDO:0020664 False spindle cell lipoma spindle cell neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0000965 MONDO:0000627 False liver lipoma benign endocrine neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0000978 MONDO:0000965 False extrahepatic bile duct lipoma liver lipoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0000979 MONDO:0007000 False pinta disease Treponema infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0000979 MONDO:0000314 False pinta disease primary bacterial infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0000979 MONDO:0024295 False pinta disease skin disease caused by bacterial infection UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0000980 MONDO:0005311 False aortic atherosclerosis atherosclerosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0000980 MONDO:0005561 False aortic atherosclerosis aortic disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0000981 MONDO:0005904 False Histoplasma pericarditis pericarditis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0000981 MONDO:0018312 False Histoplasma pericarditis histoplasmosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0000984 MONDO:0019050 False thalassemia inherited hemoglobinopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0000983 MONDO:0000596 False exhibitionism paraphilic disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0000986 MONDO:0043786 False pleurisy serositis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0000988 MONDO:0002409 False discharging ear auditory system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0000989 MONDO:0005896 False mumps infectious disease Paramyxoviridae infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0000990 MONDO:0003674 False acute subendocardial myocardial infarction subendocardial myocardial infarction UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0000990 MONDO:0004781 False acute subendocardial myocardial infarction acute myocardial infarction UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0000992 MONDO:0005267 False heart conduction disease heart disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0000994 MONDO:0006295 False malignant prostate phyllodes tumor malignant urinary system neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0000995 MONDO:0004689 False familial periodic paralysis inborn metal metabolism disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0000995 MONDO:0016122 False familial periodic paralysis periodic paralysis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0000997 MONDO:0004896 False monocular esotropia esotropia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0001005 MONDO:0001000 False kaolin pneumoconiosis mixed mineral dust pneumoconiosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001006 MONDO:0003608 False glaucomatous atrophy of optic disk optic atrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0001006 MONDO:0005041 False glaucomatous atrophy of optic disk glaucoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0001007 MONDO:0021108 False chronic meningitis meningitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001020 MONDO:0021084 False amblyopia vision disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0001008 MONDO:0003382 False blepharophimosis eyelid disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001009 MONDO:0001011 False solitary cyst of breast breast cyst UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001011 MONDO:0000620 False breast cyst breast benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001015 MONDO:0001007 False eosinophilic meningitis chronic meningitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001019 MONDO:0001020 False suppression amblyopia amblyopia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001021 MONDO:0001020 False ametropic amblyopia amblyopia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001022 MONDO:0001020 False disuse amblyopia amblyopia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0001023 MONDO:0004967 False prolymphocytic leukemia acute lymphoblastic leukemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001024 MONDO:0005275 False pneumonic plague lung disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0001024 MONDO:0024355 False pneumonic plague respiratory tract infectious disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0001025 MONDO:0001027 False seminal vesicle chronic gonorrhea gonococcal seminal vesiculitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001027 MONDO:0004277 False gonococcal seminal vesiculitis gonorrhea UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001027 MONDO:0004767 False gonococcal seminal vesiculitis vesiculitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0001028 MONDO:0020683 False acute pericementitis acute disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0001029 MONDO:0002081 False Klippel-Feil syndrome musculoskeletal system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0001029 MONDO:0003847 False Klippel-Feil syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001030 MONDO:0015486 False keratoconus, stable condition keratoconus UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001031 MONDO:0005975 False purulent acute otitis media suppurative otitis media UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0001031 MONDO:0020683 False purulent acute otitis media acute disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0001032 MONDO:0004577 False Mooren ulcer corneal ulcer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001033 MONDO:0004577 False mycotic corneal ulcer corneal ulcer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001034 MONDO:0004577 False marginal corneal ulcer corneal ulcer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001035 MONDO:0001036 False hypopyon ulcer hypopyon UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0001036 MONDO:0017210 False hypopyon infectious anterior uveitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001037 MONDO:0004577 False ring corneal ulcer corneal ulcer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001038 MONDO:0004577 False perforated corneal ulcer corneal ulcer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001039 MONDO:0004867 False tonsillitis upper respiratory tract disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0001039 MONDO:0020592 False tonsillitis disorder of pharynx UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0001039 MONDO:0021166 False tonsillitis inflammatory disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0001039 MONDO:0044986 False tonsillitis lymphoid system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0001040 MONDO:0021166 False nasopharyngitis inflammatory disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0001041 MONDO:0005276 False dentin caries dental caries UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001042 MONDO:0004857 False patellar tendinitis tendinitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0001042 MONDO:0005172 False patellar tendinitis skeletal system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0001046 MONDO:0021147 False imperforate anus disorder of development or morphogenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0001048 MONDO:0001849 False orbital granuloma chronic orbital inflammation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001049 MONDO:0005904 False Dressler syndrome pericarditis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001051 MONDO:0004795 False acute otitis externa otitis externa UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0001051 MONDO:0020683 False acute otitis externa acute disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0001052 MONDO:0000262 False chronic fungal otitis externa otomycosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0001053 MONDO:0001051 False acute infection of pinna acute otitis externa UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001054 MONDO:0005085 False double pterygium pterygium UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0001055 MONDO:0000949 False conjunctival pterygium conjunctival degeneration UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001055 MONDO:0005085 False conjunctival pterygium pterygium UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001061 MONDO:0001056 False pylorus cancer gastric cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001062 MONDO:0001061 False pyloric antrum cancer pylorus cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001063 MONDO:0001056 False cardia cancer gastric cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001064 MONDO:0002172 False acute eustachian salpingitis otosalpingitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0001064 MONDO:0020683 False acute eustachian salpingitis acute disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0001065 MONDO:0005468 False supine hypotensive syndrome hypotensive disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0001066 MONDO:0006718 False late yaws cutaneous syphilis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0001068 MONDO:0000833 False osteomalacia bone remodeling disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001071 MONDO:0005503 False intellectual disability developmental disorder of mental health UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001072 MONDO:0005081 False mild pre-eclampsia preeclampsia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001073 MONDO:0001824 False idiopathic progressive polyneuropathy polyneuropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0001073 MONDO:0700007 False idiopathic progressive polyneuropathy idiopathic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001074 MONDO:0005395 False chronic tic disorder movement disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001074 MONDO:0002420 False chronic tic disorder tic disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0001075 MONDO:0005020 False steatorrhea intestinal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0001076 MONDO:0011731 False glucose intolerance glucose-galactose malabsorption UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001078 MONDO:0020598 False tropical sprue malabsorption syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0001079 MONDO:0001075 False pancreatic steatorrhea steatorrhea UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0001079 MONDO:0002356 False pancreatic steatorrhea pancreas disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001080 MONDO:0001081 False acute gonococcal cervicitis acute cervicitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0001080 MONDO:0021157 False acute gonococcal cervicitis gonococcal cervicitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0001081 MONDO:0020683 False acute cervicitis acute disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001083 MONDO:0002254 False Fanconi renotubular syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001082 MONDO:0000612 False lymph node cancer lymphatic system cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001083 MONDO:0006510 False Fanconi renotubular syndrome renal tubular transport disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0001083 MONDO:0021568 False Fanconi renotubular syndrome renal tubule disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0001084 MONDO:0003608 False primary optic atrophy optic atrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001086 MONDO:0003608 False partial optic atrophy optic atrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001088 MONDO:0004781 False acute inferoposterior infarction acute myocardial infarction UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001089 MONDO:0004781 False acute inferolateral myocardial infarction acute myocardial infarction UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001090 MONDO:0004781 False acute anterolateral myocardial infarction acute myocardial infarction UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0001090 MONDO:0006652 False acute anterolateral myocardial infarction anterolateral myocardial infarction UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0001093 MONDO:0024479 False colonic lymphangioma epithelial tumor of colon UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0001094 MONDO:0005338 False residual stage of open angle glaucoma open-angle glaucoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0001096 MONDO:0001095 False mediastinum ganglioneuroblastoma mediastinum neuroblastoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001098 MONDO:0005618 False separation anxiety disorder anxiety disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001099 MONDO:0001011 False lactocele breast cyst UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0001099 MONDO:0045019 False lactocele lactation disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0001103 MONDO:0002428 False giardiasis protozoa infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0001103 MONDO:0024270 False giardiasis parasitic intestinal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0001104 MONDO:0004425 False toxic diffuse goiter hyperthyroidism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001105 MONDO:0001200 False renal hypertension secondary hypertension UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001105 MONDO:0005240 False renal hypertension kidney disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0001108 MONDO:0000637 False broad ligament malignant neoplasm musculoskeletal system cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001108 MONDO:0001351 False broad ligament malignant neoplasm uterine adnexa cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0001108 MONDO:0045043 False broad ligament malignant neoplasm disorder of uterine broad ligament UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0001109 MONDO:0005246 False petrositis osteomyelitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0001109 MONDO:0021166 False petrositis inflammatory disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0001109 MONDO:0024654 False petrositis skull disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0001110 MONDO:0005300 False chronic pyelonephritis chronic kidney disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001112 MONDO:0005833 False bubonic plague lymphatic system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0001115 MONDO:0003847 False familial polycythemia hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0001117 MONDO:0044348 False methemoglobinemia hemoglobinopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0001118 MONDO:0001195 False Queensland tick typhus spotted fever UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0001118 MONDO:0025294 False Queensland tick typhus tick-borne infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0001119 MONDO:0005387 False premature menopause primary ovarian failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001120 MONDO:0006031 False chronic frontal sinusitis chronic rhinosinusitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001122 MONDO:0006031 False chronic maxillary sinusitis chronic rhinosinusitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001123 MONDO:0006031 False chronic sphenoidal sinusitis chronic rhinosinusitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0001125 MONDO:0020683 False acute gonococcal epididymo-orchitis acute disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0001125 MONDO:0021158 False acute gonococcal epididymo-orchitis gonococcal epididymo-orchitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001126 MONDO:0004298 False gastric ulcer stomach disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001127 MONDO:0004857 False tibialis tendinitis tendinitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001128 MONDO:0000376 False nasal cavity cancer respiratory system cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0001128 MONDO:0000649 False nasal cavity cancer sensory system cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001133 MONDO:0001134 False malignant essential hypertension essential hypertension UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0001133 MONDO:0006846 False malignant essential hypertension malignant hypertension UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001134 MONDO:0005044 False essential hypertension hypertensive disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001135 MONDO:0000596 False voyeurism paraphilic disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0001136 MONDO:0002329 False chylocele of tunica vaginalis testicular disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0001137 MONDO:0005763 False Murray valley encephalitis Flaviviridae infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0001137 MONDO:0100120 False Murray valley encephalitis vector-borne disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0001138 MONDO:0002322 False angiodysplasia of intestine angiodysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001138 MONDO:0005020 False angiodysplasia of intestine intestinal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001141 MONDO:0005441 False middle ear cholesterol granuloma otitis media UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001142 MONDO:0006858 False salivary gland disorder mouth disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001143 MONDO:0003432 False paralytic strabismus strabismus UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0001144 MONDO:0001309 False partial third-nerve palsy oculomotor nerve paralysis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0001145 MONDO:0001309 False total third-nerve palsy oculomotor nerve paralysis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0001146 MONDO:0002782 False fourth cranial nerve palsy cranial nerve palsy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0001146 MONDO:0007002 False fourth cranial nerve palsy trochlear nerve disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001147 MONDO:0002320 False meningocele congenital nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001148 MONDO:0002800 False iliac vein thrombophlebitis thrombophlebitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0001149 MONDO:0021147 False microcephaly disorder of development or morphogenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001149 MONDO:0700092 False microcephaly neurodevelopmental disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0001151 MONDO:0001134 False benign essential hypertension essential hypertension UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001152 MONDO:0002039 False amnestic disorder cognitive disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001154 MONDO:0001195 False Siberian tick typhus spotted fever UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001155 MONDO:0004247 False gastrojejunal ulcer peptic ulcer disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0001166 MONDO:0021166 False nephritis inflammatory disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0001167 MONDO:0000396 False spastic diplegia spastic cerebral palsy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001168 MONDO:0000396 False spastic hemiplegia spastic cerebral palsy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001169 MONDO:0000396 False spastic monoplegia spastic cerebral palsy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0001170 MONDO:0006496 False hemiplegia palsy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0001171 MONDO:0001172 False acute salpingo-oophoritis salpingo-oophoritis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0001171 MONDO:0001173 False acute salpingo-oophoritis acute salpingitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0001172 MONDO:0003619 False salpingo-oophoritis salpingitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001172 MONDO:0006877 False salpingo-oophoritis oophoritis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0001173 MONDO:0020683 False acute salpingitis acute disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001174 MONDO:0005552 False conjunctival vascular disorder ocular vascular disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0001175 MONDO:0005129 False immature cataract cataract UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001177 MONDO:0002519 False anorectal stricture anus disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001178 MONDO:0000942 False pseudopterygium corneal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0001178 MONDO:0000949 False pseudopterygium conjunctival degeneration UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001180 MONDO:0002261 False bullous keratopathy keratopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001179 MONDO:0000949 False pinguecula conjunctival degeneration UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001180 MONDO:0006712 False bullous keratopathy corneal edema UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001181 MONDO:0006712 False secondary corneal edema corneal edema UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001182 MONDO:0006712 False idiopathic corneal edema corneal edema UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0001182 MONDO:0700007 False idiopathic corneal edema idiopathic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0001183 MONDO:0006712 False contact lens corneal edema corneal edema UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0001184 MONDO:0005300 False chronic rapidly progressive glomerulonephritis chronic kidney disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0001184 MONDO:0017236 False chronic rapidly progressive glomerulonephritis rapidly progressive glomerulonephritis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001190 MONDO:0005683 False Brucella suis brucellosis brucellosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001191 MONDO:0005550 False hirudiniasis infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0001195 MONDO:0006927 False spotted fever Rickettsiaceae infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0001195 MONDO:0100120 False spotted fever vector-borne disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0001196 MONDO:0000947 False psychologic dyspareunia psychosexual disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0001196 MONDO:0700057 False psychologic dyspareunia neurological pain disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0001197 MONDO:0002245 False qualitative platelet defect blood platelet disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0001198 MONDO:0002049 False acquired thrombocytopenia thrombocytopenia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001199 MONDO:0002409 False dislocation of ear ossicle auditory system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001200 MONDO:0005044 False secondary hypertension hypertensive disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001202 MONDO:0003105 False prostatic cyst prostate disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0001203 MONDO:0024625 False prolapse of lacrimal gland disorder of lacrimal gland UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0001205 MONDO:0005041 False hypersecretion glaucoma glaucoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001206 MONDO:0005041 False aqueous misdirection glaucoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0001207 MONDO:0001208 False neonatal respiratory failure acute respiratory failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0001208 MONDO:0020683 False acute respiratory failure acute disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001208 MONDO:0021113 False acute respiratory failure respiratory failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0001209 MONDO:0005108 False common wart viral infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0001209 MONDO:0024294 False common wart skin disorder caused by infection UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0001210 MONDO:0004751 False enophthalmos disease of orbital part of eye adnexa UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001211 MONDO:0000926 False total internal ophthalmoplegia eye accommodation disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0001211 MONDO:0001309 False total internal ophthalmoplegia oculomotor nerve paralysis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001211 MONDO:0002285 False total internal ophthalmoplegia pupil disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001212 MONDO:0005441 False non-suppurative otitis media otitis media UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0001213 MONDO:0021203 False serous glue ear serous otitis media UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0001213 MONDO:0021206 False serous glue ear chronic non-suppurative otitis media UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0001214 MONDO:0020683 False acute conjunctivitis acute disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001217 MONDO:0006668 False pseudomembranous conjunctivitis bacterial conjunctivitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001215 MONDO:0000308 False allescheriosis primary systemic mycosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001216 MONDO:0003394 False pulp degeneration dental pulp disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001217 MONDO:0001214 False pseudomembranous conjunctivitis acute conjunctivitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001218 MONDO:0004867 False acute laryngopharyngitis upper respiratory tract disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0001218 MONDO:0020683 False acute laryngopharyngitis acute disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0001219 MONDO:0001214 False serous conjunctivitis except viral acute conjunctivitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0001221 MONDO:0008638 False esophageal varices varicose disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001222 MONDO:0003780 False congenital T-cell immunodeficiency T-cell immunodeficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001224 MONDO:0001214 False Angelucci syndrome acute conjunctivitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001223 MONDO:0005151 False parathyroid gland disorder endocrine system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001225 MONDO:0002491 False opioid abuse substance abuse UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0001227 MONDO:0021204 False chronic tympanitis chronic otitis media UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0001227 MONDO:0024616 False chronic tympanitis tympanitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0001228 MONDO:0001214 False conjunctival folliculosis acute conjunctivitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001229 MONDO:0004235 False small intestine diverticulitis diverticulitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0001229 MONDO:0024635 False small intestine diverticulitis small intestine disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0001230 MONDO:0004751 False acute orbital inflammation disease of orbital part of eye adnexa UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0001230 MONDO:0020683 False acute orbital inflammation acute disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0001231 MONDO:0001230 False orbital periostitis acute orbital inflammation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0001231 MONDO:0004934 False orbital periostitis periostitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001232 MONDO:0001230 False orbital osteomyelitis acute orbital inflammation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001233 MONDO:0001230 False orbital tenonitis acute orbital inflammation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0001235 MONDO:0002033 False appendix cancer cecum cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0001236 MONDO:0005694 False appendiceal neoplasm cecal neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0001236 MONDO:0056798 False appendiceal neoplasm disorder of appendix UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0001237 MONDO:0002034 False appendix lymphoma cecum lymphoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001244 MONDO:0024298 False vitamin K deficiency hemorrhagic disease vitamin deficiency disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0001239 MONDO:0001240 False anemia of prematurity neonatal anemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001240 MONDO:0002280 False neonatal anemia anemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001241 MONDO:0001475 False transient neonatal neutropenia neutropenia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001243 MONDO:0002305 False disseminated intravascular coagulation thrombophilia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0001246 MONDO:0006927 False typhus Rickettsiaceae infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0001246 MONDO:0100120 False typhus vector-borne disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0001249 MONDO:0005701 False trachoma chlamydia trachomatis infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001250 MONDO:0005328 False keratomalacia eye disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001251 MONDO:0004508 False chronic apical periodontitis periapical periodontitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0001251 MONDO:0005593 False chronic apical periodontitis chronic periodontitis UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0001255 MONDO:0017853 False ventilation pneumonitis hypersensitivity pneumonitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001256 MONDO:0006500 False arteriovenous hemangioma/malformation hemangioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001257 MONDO:0002311 False retinal microaneurysm retinal vascular disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001258 MONDO:0003718 False vertebral artery occlusion occlusion precerebral artery UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0001258 MONDO:0020673 False vertebral artery occlusion arterial occlusion UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0001259 MONDO:0002721 False pituitary gland infarction necrosis of pituitary UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001260 MONDO:0015254 False cercarial dermatitis schistosomiasis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0001260 MONDO:0021201 False cercarial dermatitis skin infection UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0001260 MONDO:0024610 False cercarial dermatitis parasitic skin disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0001262 MONDO:0002099 False African histoplasmosis Histoplasma capsulatum infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0001263 MONDO:0002099 False histoplasmosis retinitis Histoplasma capsulatum infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001263 MONDO:0002708 False histoplasmosis retinitis retinitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0001263 MONDO:0016047 False histoplasmosis retinitis endophthalmitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0001263 MONDO:0020010 False histoplasmosis retinitis infectious disorder of the nervous system UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0001263 MONDO:0020944 False histoplasmosis retinitis fungal infection of eye UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0001265 MONDO:0005485 False schizophreniform disorder psychotic disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0001266 MONDO:0021201 False erysipelas skin infection UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0001266 MONDO:0021680 False erysipelas streptococcal infection UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0001266 MONDO:0024295 False erysipelas skin disease caused by bacterial infection UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0001268 MONDO:0002021 False gingival recession gingival disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0001270 MONDO:0006678 False stone in bladder diverticulum bladder calculus UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001270 MONDO:0007197 False stone in bladder diverticulum bladder diverticulum UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001272 MONDO:0003409 False functional diarrhea colonic disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001273 MONDO:0003409 False megacolon colonic disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001274 MONDO:0002519 False anal spasm anus disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0001277 MONDO:0003346 False cerebral arteritis central nervous system vasculitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001277 MONDO:0011057 False cerebral arteritis cerebrovascular disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0001277 MONDO:0043494 False cerebral arteritis arteritis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0001280 MONDO:0001898 False choroiditis optic choroid disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0001280 MONDO:0006918 False choroiditis posterior uveitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0001280 MONDO:0018882 False choroiditis vasculitis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001283 MONDO:0002263 False endosalpingiosis female reproductive system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001284 MONDO:0005020 False endometriosis of intestine intestinal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0001290 MONDO:0004980 False allergic cutaneous vasculitis atopic eczema UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001290 MONDO:0020576 False allergic cutaneous vasculitis cutaneous vasculitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0001290 MONDO:0006794 False allergic cutaneous vasculitis hypersensitivity vasculitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001291 MONDO:0005560 False brain compression brain disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0001292 MONDO:0002602 False autonomic nervous system disorder central nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001292 MONDO:0003620 False autonomic nervous system disorder peripheral nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001294 MONDO:0001300 False Horner syndrome autonomic neuropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001295 MONDO:0001292 False idiopathic peripheral autonomic neuropathy autonomic nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0001295 MONDO:0700007 False idiopathic peripheral autonomic neuropathy idiopathic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0001296 MONDO:0006873 False acquired night blindness nutritional deficiency disease UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001297 MONDO:0001370 False cardiac tamponade pericardial effusion UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0001298 MONDO:0020674 False congenital mitral valve insufficiency vascular insufficiency disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001299 MONDO:0006626 False diabetic autonomic neuropathy diabetic neuropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001300 MONDO:0001292 False autonomic neuropathy autonomic nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001301 MONDO:0005451 False rumination disorder eating disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001303 MONDO:0002285 False abnormal pupillary function pupil disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0001304 MONDO:0024633 False benign hypertensive renal disease hypertensive nephropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001307 MONDO:0005227 False corneal abscess abscess UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001307 MONDO:0023865 False corneal abscess corneal infection UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0001305 MONDO:0004382 False laryngostenosis laryngeal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001307 MONDO:0004903 False corneal abscess deep keratitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001308 MONDO:0000942 False corneal deposit corneal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001309 MONDO:0024458 False oculomotor nerve paralysis disorder of visual system UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0001310 MONDO:0000942 False Bowman's membrane folds or rupture corneal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001312 MONDO:0002738 False acute serous otitis media acute transudative otitis media UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001313 MONDO:0001312 False acute allergic serous otitis media acute serous otitis media UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0001313 MONDO:0021202 False acute allergic serous otitis media allergic otitis media UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001314 MONDO:0005066 False chondrocalcinosis metabolic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001315 MONDO:0003117 False neurocirculatory asthenia somatoform disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0001315 MONDO:0005618 False neurocirculatory asthenia anxiety disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001316 MONDO:0006670 False streptococcal meningitis bacterial meningitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0001316 MONDO:0021680 False streptococcal meningitis streptococcal infection UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0001317 MONDO:0004768 False phlyctenulosis keratoconjunctivitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001318 MONDO:0004298 False functional gastric disease stomach disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001319 MONDO:0001187 False bladder lateral wall cancer urinary bladder cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001320 MONDO:0001269 False ring staphyloma scleral disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001322 MONDO:0001340 False pericardium cancer heart cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0001323 MONDO:0001571 False infant gynecomastia gynecomastia disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001326 MONDO:0003394 False dental pulp necrosis dental pulp disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0001328 MONDO:0045046 False thyroid hormone resistance syndrome inherited thyroid metabolism disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0001329 MONDO:0000926 False accommodative spasm eye accommodation disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001330 MONDO:0000926 False presbyopia eye accommodation disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0001330 MONDO:0004892 False presbyopia refractive error UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001331 MONDO:0006170 False conjunctival deposit conjunctival disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0001332 MONDO:0002254 False palindromic rheumatism syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0001332 MONDO:0003366 False palindromic rheumatism hydrarthrosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0001332 MONDO:0005554 False palindromic rheumatism rheumatic disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001334 MONDO:0003382 False hypertrichosis of eyelid eyelid disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001334 MONDO:0019280 False hypertrichosis of eyelid hypertrichosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001335 MONDO:0003037 False hypotrichosis of eyelid hypotrichosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001335 MONDO:0003382 False hypotrichosis of eyelid eyelid disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001336 MONDO:0002525 False familial hyperlipidemia inherited lipid metabolism disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0001336 MONDO:0021187 False familial hyperlipidemia hyperlipidemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0001338 MONDO:0001028 False acute apical periodontitis acute pericementitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001338 MONDO:0004508 False acute apical periodontitis periapical periodontitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001339 MONDO:0002405 False portal vein thrombosis hepatic vascular disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001339 MONDO:0004634 False portal vein thrombosis vein disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001341 MONDO:0001342 False selective IgA deficiency disease dysgammaglobulinemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001342 MONDO:0003739 False dysgammaglobulinemia selective immunoglobulin deficiency disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0001343 MONDO:0005240 False impaired renal function disease kidney disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0001345 MONDO:0002491 False antidepressant type abuse substance abuse UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001347 MONDO:0016106 False facioscapulohumeral muscular dystrophy progressive muscular dystrophy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0001347 MONDO:0100137 False facioscapulohumeral muscular dystrophy telomere syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0001349 MONDO:0005276 False odontoclasia dental caries UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0001350 MONDO:0001108 False parametrium malignant neoplasm broad ligament malignant neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001351 MONDO:0002715 False uterine adnexa cancer uterine cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0001352 MONDO:0000637 False round ligament malignant neoplasm musculoskeletal system cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001352 MONDO:0001351 False round ligament malignant neoplasm uterine adnexa cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0001352 MONDO:0002087 False round ligament malignant neoplasm peritoneum cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0001352 MONDO:0045044 False round ligament malignant neoplasm ligament disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0001353 MONDO:0037872 False Bordetella parapertussis infectious disease bordetellosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0001355 MONDO:0001436 False ocular siderosis hemosiderosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001355 MONDO:0005328 False ocular siderosis eye disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0001356 MONDO:0000387 False iron deficiency anemia hypochromic microcytic anemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001356 MONDO:0006873 False iron deficiency anemia nutritional deficiency disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001358 MONDO:0000270 False bronchial disorder lower respiratory tract disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001360 MONDO:0004390 False blind hypotensive eye ocular hypotension UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001361 MONDO:0004843 False spontaneous ocular nystagmus pathologic nystagmus UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0001363 MONDO:0004884 False blind hypertensive eye eye degenerative disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001364 MONDO:0011284 False regular astigmatism astigmatism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0001365 MONDO:0003276 False necrosis of ear ossicle middle ear disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0001365 MONDO:0005172 False necrosis of ear ossicle skeletal system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0001366 MONDO:0002332 False splenic sequestration splenic disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0001367 MONDO:0037251 False chronic congestive splenomegaly congestive splenomegaly UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0001368 MONDO:0001515 False phthisical cornea corneal degeneration UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001370 MONDO:0000474 False pericardial effusion pericardium disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001372 MONDO:0001187 False bladder neck cancer urinary bladder cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0001372 MONDO:0041154 False bladder neck cancer disorder of neck of urinary bladder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0001373 MONDO:0001187 False urinary bladder posterior wall cancer urinary bladder cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0001375 MONDO:0001380 False bladder trigone cancer bladder dome cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001376 MONDO:0001187 False urinary bladder anterior wall cancer urinary bladder cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001377 MONDO:0004860 False vitreous syneresis vitreous disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0001377 MONDO:0004884 False vitreous syneresis eye degenerative disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001378 MONDO:0001187 False urachus cancer urinary bladder cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0001379 MONDO:0001380 False ureteric orifice cancer bladder dome cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0001379 MONDO:0008627 False ureteric orifice cancer ureter cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001382 MONDO:0002254 False hepatorenal syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001380 MONDO:0001187 False bladder dome cancer urinary bladder cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001383 MONDO:0001384 False degenerative myopia myopia UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0001383 MONDO:0004884 False degenerative myopia eye degenerative disorder UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0001383 MONDO:0024237 False degenerative myopia inherited neurodegenerative disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0001384 MONDO:0003847 False myopia hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001385 MONDO:0001941 False cortical blindness blindness (disorder) UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001384 MONDO:0004892 False myopia refractive error UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001385 MONDO:0003584 False cortical blindness visual cortex disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0001386 MONDO:0003584 False visual epilepsy visual cortex disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001386 MONDO:0017768 False visual epilepsy reflex epilepsy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001388 MONDO:0001325 False glans penis cancer penile cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001389 MONDO:0005010 False congenital coronary artery anomaly coronary artery disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0001389 MONDO:0005453 False congenital coronary artery anomaly congenital heart disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001390 MONDO:0004892 False transient refractive change refractive error UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001392 MONDO:0001286 False monocular exotropia exotropia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001393 MONDO:0002164 False peripheral focal chorioretinitis focal chorioretinitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001395 MONDO:0003085 False macular keratitis keratitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001397 MONDO:0005244 False mononeuropathy peripheral neuropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0001400 MONDO:0000638 False schwannoma of ureter benign glioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0001400 MONDO:0056804 False schwannoma of ureter benign neoplasm of peripheral nervous system UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001401 MONDO:0004379 False female breast nipple and areola cancer female breast carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0001403 MONDO:0002898 False labium majus cancer skin cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001404 MONDO:0004592 False ecthyma impetigo UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001407 MONDO:0000376 False tracheal cancer respiratory system cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0001409 MONDO:0021166 False esophagitis inflammatory disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0001410 MONDO:0002234 False postmenopausal atrophic vaginitis vaginitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001411 MONDO:0018234 False synostosis dysostosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001412 MONDO:0001331 False conjunctival concretion conjunctival deposit UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001414 MONDO:0002933 False osteopoikilosis osteosclerosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001422 MONDO:0005495 False primary aldosteronism adrenal gland disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0001423 MONDO:0005084 False drug-induced mental disorder mental disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0001427 MONDO:0004298 False Dieulafoy lesion stomach disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001428 MONDO:0004298 False pylorospasm stomach disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001430 MONDO:0006713 False deep corneal vascularisation corneal neovascularization UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001434 MONDO:0003937 False inflammatory spondylopathy spondylitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001435 MONDO:0004579 False bullous retinoschisis retinoschisis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001436 MONDO:0002279 False hemosiderosis iron metabolism disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001438 MONDO:0002771 False postinflammatory pulmonary fibrosis pulmonary fibrosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001439 MONDO:0001269 False episcleritis periodica fugax scleral disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001440 MONDO:0004768 False neurotrophic keratoconjunctivitis keratoconjunctivitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001441 MONDO:0005451 False pica disease eating disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001443 MONDO:0003648 False tympanosclerosis tympanic membrane disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001444 MONDO:0000940 False Chagas disease trypanosomiasis UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0001444 MONDO:0100120 False Chagas disease vector-borne disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0001446 MONDO:0006026 False low compliance bladder urinary bladder disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001447 MONDO:0006026 False detrusor sphincter dyssynergia urinary bladder disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0001449 MONDO:0004796 False lymphocytic choriomeningitis infectious meningitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0001449 MONDO:0024318 False lymphocytic choriomeningitis viral infection of central nervous system UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0001449 MONDO:0100120 False lymphocytic choriomeningitis vector-borne disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0001452 MONDO:0001451 False pseudoretinitis pigmentosa peripheral retinal degeneration UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001453 MONDO:0001451 False senile reticular retinal degeneration peripheral retinal degeneration UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001454 MONDO:0001451 False Blessig's cysts peripheral retinal degeneration UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001455 MONDO:0001451 False retinal lattice degeneration peripheral retinal degeneration UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001456 MONDO:0001451 False cobblestone retinal degeneration peripheral retinal degeneration UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001457 MONDO:0001451 False secondary vitreoretinal degeneration peripheral retinal degeneration UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0001458 MONDO:0007006 False ulnar nerve lesion ulnar neuropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0001458 MONDO:0024334 False ulnar nerve lesion peripheral nerve lesion UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0001459 MONDO:0001397 False radial neuropathy mononeuropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0001459 MONDO:0006683 False radial neuropathy brachial plexus neuropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001460 MONDO:0005397 False dyshormonogenic goiter goiter UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001462 MONDO:0021063 False descending colon cancer malignant colon neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001463 MONDO:0001462 False splenic flexure cancer descending colon cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0001464 MONDO:0006971 False sigmoid colon cancer sigmoid neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001464 MONDO:0021063 False sigmoid colon cancer malignant colon neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001465 MONDO:0003085 False superficial keratitis keratitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0001466 MONDO:0001465 False punctate epithelial keratoconjunctivitis superficial keratitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001466 MONDO:0004768 False punctate epithelial keratoconjunctivitis keratoconjunctivitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001468 MONDO:0006816 False synovial plica syndrome arthropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0001468 MONDO:0056799 False synovial plica syndrome synovium disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0001469 MONDO:0004298 False cascade stomach stomach disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0001471 MONDO:0002099 False histoplasmosis meningitis Histoplasma capsulatum infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001471 MONDO:0006764 False histoplasmosis meningitis fungal meningitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0001472 MONDO:0003125 False testicular lymphoma testicular sex cord-stromal neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001473 MONDO:0005495 False medulloadrenal hyperfunction adrenal gland disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001474 MONDO:0001172 False chronic salpingo-oophoritis salpingo-oophoritis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0001474 MONDO:0003617 False chronic salpingo-oophoritis chronic salpingitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001479 MONDO:0021201 False cutaneous diphtheria skin infection UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0001475 MONDO:0001609 False neutropenia agranulocytosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001478 MONDO:0004892 False anisometropia refractive error UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001479 MONDO:0002922 False cutaneous diphtheria pyoderma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001480 MONDO:0005447 False malignant tumor of undescended testis testicular cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001481 MONDO:0002800 False femoral vein thrombophlebitis thrombophlebitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001485 MONDO:0005371 False atypical depressive disorder mood disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0001487 MONDO:0003059 False intrahepatic bile duct cancer bile duct cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001488 MONDO:0001308 False anterior corneal pigmentation corneal deposit UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001490 MONDO:0000764 False corneal granular dystrophy epithelial-stromal TGFBI dystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001492 MONDO:0001493 False kyphoscoliotic heart disease chronic pulmonary heart disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001493 MONDO:0004596 False chronic pulmonary heart disease cor pulmonale UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001495 MONDO:0003150 False hematocele of tunica vaginalis testis male reproductive system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001496 MONDO:0003150 False male genital organ stricture male reproductive system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001497 MONDO:0003150 False male genital organ vascular disease male reproductive system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001498 MONDO:0004869 False varicocele pelvic varices UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0001498 MONDO:0045003 False varicocele scrotal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001505 MONDO:0043693 False alcoholic hepatitis alcoholic liver diseases UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0001503 MONDO:0004390 False primary eye hypotony ocular hypotension UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001504 MONDO:0000596 False fetishistic disorder paraphilic disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0001506 MONDO:0005280 False prostatocystitis prostatitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001506 MONDO:0006032 False prostatocystitis cystitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001507 MONDO:0002008 False viral labyrinthitis labyrinthitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001507 MONDO:0005108 False viral labyrinthitis viral infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0001507 MONDO:0021666 False viral labyrinthitis ear infection UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0001508 MONDO:0004866 False patulous eustachian tube eustachian tube disorder UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001509 MONDO:0004751 False endocrine exophthalmos disease of orbital part of eye adnexa UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001510 MONDO:0004751 False lateral displacement of eye disease of orbital part of eye adnexa UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001511 MONDO:0001509 False thyrotoxic exophthalmos endocrine exophthalmos UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001512 MONDO:0004751 False intermittent proptosis disease of orbital part of eye adnexa UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001513 MONDO:0004751 False pulsating exophthalmos disease of orbital part of eye adnexa UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001514 MONDO:0004184 False prolapse of urethra urethral disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001515 MONDO:0000942 False corneal degeneration corneal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0001516 MONDO:0003182 False spinal muscular atrophy anterior horn disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001516 MONDO:0020128 False spinal muscular atrophy motor neuron disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0001517 MONDO:0000252 False dysentery inflammatory diarrhea UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0001517 MONDO:0000257 False dysentery acute diarrhea UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001517 MONDO:0000916 False dysentery intestinal infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001518 MONDO:0001519 False spastic entropion entropion UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001519 MONDO:0003382 False entropion eyelid disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001523 MONDO:0005328 False luxation of globe eye disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001525 MONDO:0003240 False thyrocalcitonin secretion disease thyroid gland disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001526 MONDO:0002898 False labia minora cancer skin cancer UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001527 MONDO:0003432 False conjugate gaze palsy strabismus UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001529 MONDO:0002280 False pancytopenia anemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001530 MONDO:0006964 False secondary hyperparathyroidism of renal origin secondary hyperparathyroidism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0001532 MONDO:0005745 False capillariasis Enoplea infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0001533 MONDO:0002183 False pes anserinus tendinitis or bursitis enthesopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001534 MONDO:0006170 False ocular hyperemia conjunctival disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001535 MONDO:0002639 False vagus nerve disorder glossopharyngeal nerve disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0001537 MONDO:0004779 False tuberculous epididymitis epididymitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0001537 MONDO:0006845 False tuberculous epididymitis male genital tuberculosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0001538 MONDO:0005053 False retinal ischemia ischemic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001538 MONDO:0005283 False retinal ischemia retinal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0001538 MONDO:0043218 False retinal ischemia neurovascular disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0001539 MONDO:0008375 False retinal perforation retinal detachment UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0001541 MONDO:0001543 False plantar nerve lesion lesion of sciatic nerve UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0001542 MONDO:0001543 False common peroneal nerve lesion lesion of sciatic nerve UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001542 MONDO:0004797 False common peroneal nerve lesion mononeuritis of lower limb UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0001543 MONDO:0001829 False lesion of sciatic nerve lumbosacral plexus lesion UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0001543 MONDO:0006960 False lesion of sciatic nerve sciatic neuropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0001543 MONDO:0024334 False lesion of sciatic nerve peripheral nerve lesion UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001549 MONDO:0001531 False hemolytic-uremic syndrome blood coagulation disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001544 MONDO:0004797 False tibial nerve palsy mononeuritis of lower limb UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001546 MONDO:0005095 False hypermobility of coccyx spondyloarthropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001547 MONDO:0003648 False atrophic nonflaccid tympanic membrane tympanic membrane disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001548 MONDO:0001711 False hepatic coma hepatic encephalopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001551 MONDO:0002187 False ulceration of vulva vulvar disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001553 MONDO:0001554 False phacolytic glaucoma phacogenic glaucoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0001553 MONDO:0007179 False phacolytic glaucoma autoimmune disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001558 MONDO:0002254 False Potter sequence syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001554 MONDO:0005041 False phacogenic glaucoma glaucoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001556 MONDO:0004184 False urethral obstruction urethral disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001557 MONDO:0002183 False olecranon bursitis enthesopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001557 MONDO:0002471 False olecranon bursitis bursitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0001558 MONDO:0005881 False Potter sequence oligohydramnios UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0001560 MONDO:0005020 False hypertrophic pyloric stenosis intestinal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001564 MONDO:0021084 False binocular vision disease vision disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0001562 MONDO:0007721 False displacement of cardia through esophageal hiatus hiatus hernia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001563 MONDO:0002453 False vestibulocochlear nerve disorder retrocochlear disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001563 MONDO:0003620 False vestibulocochlear nerve disorder peripheral nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001565 MONDO:0001564 False abnormal retinal correspondence binocular vision disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001566 MONDO:0005557 False hypercalcemia disease calcium metabolic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0001567 MONDO:0002123 False nephrocalcinosis calcinosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001568 MONDO:0004750 False mixed receptive-expressive language disorder language disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0001571 MONDO:0001100 False gynecomastia disorder hypertrophy of breast UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001571 MONDO:0002145 False gynecomastia disorder disorder of sexual differentiation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001574 MONDO:0005385 False capillary disorder vascular disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001575 MONDO:0003617 False chronic gonococcal salpingitis chronic salpingitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0001575 MONDO:0021159 False chronic gonococcal salpingitis gonococcal salpingitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001576 MONDO:0021658 False telangiectasis vascular ectasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0001576 MONDO:0005294 False telangiectasis peripheral vascular disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0001577 MONDO:0005856 False respiratory syncytial virus infectious disease Mononegavirales infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001577 MONDO:0024352 False respiratory syncytial virus infectious disease viral respiratory tract infection UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0001579 MONDO:0000942 False corneal staphyloma corneal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001582 MONDO:0002043 False cicatricial ectropion ectropion UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001583 MONDO:0006626 False diabetic polyneuropathy diabetic neuropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001584 MONDO:0003569 False ocular motility disease cranial nerve neuropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001585 MONDO:0002491 False hallucinogen abuse substance abuse UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0001586 MONDO:0005328 False mucopolysaccharidosis type 1 eye disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0001586 MONDO:0005381 False mucopolysaccharidosis type 1 bone disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001588 MONDO:0004804 False chronic lacrimal gland enlargement dacryoadenitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0001590 MONDO:0006496 False quadriplegia palsy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0001591 MONDO:0001519 False senile entropion entropion UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001592 MONDO:0002263 False prolapse of female genital organ female reproductive system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0001593 MONDO:0024634 False rectal disorder large intestine disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0001594 MONDO:0002471 False Achilles bursitis bursitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0001594 MONDO:0004857 False Achilles bursitis tendinitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0001594 MONDO:0045004 False Achilles bursitis skeletal ligament disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0001596 MONDO:0003117 False hypochondriasis somatoform disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001597 MONDO:0001142 False submandibular gland disorder salivary gland disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0001598 MONDO:0000586 False benign lymphoepithelial lesion of salivary gland autoimmune disorder of exocrine system UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001600 MONDO:0001142 False mucocele of salivary gland salivary gland disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0001602 MONDO:0002656 False labia minora carcinoma skin carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001603 MONDO:0001604 False paralytic lagophthalmos lagophthalmos UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001604 MONDO:0003382 False lagophthalmos eyelid disorder UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001607 MONDO:0001082 False intrapelvic lymph node leukemic reticuloendotheliosis lymph node cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0001607 MONDO:0018935 False intrapelvic lymph node leukemic reticuloendotheliosis hairy cell leukemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0001608 MONDO:0002638 False vagus nerve neoplasm glossopharyngeal nerve neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001610 MONDO:0004926 False acute dacryocystitis dacryocystitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0001610 MONDO:0020683 False acute dacryocystitis acute disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0001611 MONDO:0004926 False phlegmonous dacryocystitis dacryocystitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0001613 MONDO:0020674 False vertebrobasilar insufficiency vascular insufficiency disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0001614 MONDO:0001082 False intra-abdominal lymph node mast cell malignancy lymph node cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0001615 MONDO:0023865 False epidemic keratoconjunctivitis corneal infection UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0001615 MONDO:0043479 False epidemic keratoconjunctivitis adenoviridae infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0001615 MONDO:0043541 False epidemic keratoconjunctivitis viral conjunctivitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0001616 MONDO:0002040 False lobomycosis dermatomycosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001617 MONDO:0001152 False transient global amnesia amnestic disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0001618 MONDO:0006672 False balanoposthitis balanitis UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0001618 MONDO:0021164 False balanoposthitis posthitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001621 MONDO:0006956 False tick-borne relapsing fever Rickettsiosis UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0001621 MONDO:0025294 False tick-borne relapsing fever tick-borne infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0001624 MONDO:0005964 False acute sphenoidal sinusitis sphenoid sinusitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0001624 MONDO:0020683 False acute sphenoidal sinusitis acute disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001628 MONDO:0024487 False tinea unguium nail infection UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0001625 MONDO:0003282 False corpus luteum cyst ovarian cyst UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001626 MONDO:0005041 False traumatic glaucoma glaucoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001629 MONDO:0007179 False Jaccoud syndrome autoimmune disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001631 MONDO:0005264 False vertebral artery insufficiency transient ischemic attack UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0001631 MONDO:0020674 False vertebral artery insufficiency vascular insufficiency disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001633 MONDO:0005269 False central retinal artery occlusion carotid artery disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001633 MONDO:0020673 False central retinal artery occlusion arterial occlusion UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0001632 MONDO:0002277 False intracranial arteriosclerosis arteriosclerosis disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001636 MONDO:0001519 False mechanical entropion entropion UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001637 MONDO:0001519 False cicatricial entropion entropion UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001638 MONDO:0001639 False protein-deficiency anemia deficiency anemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001639 MONDO:0002280 False deficiency anemia anemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001640 MONDO:0003937 False gonococcal spondylitis spondylitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0001640 MONDO:0004277 False gonococcal spondylitis gonorrhea UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0001642 MONDO:0005800 False hordeolum externum hordeolum UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0001643 MONDO:0001509 False exophthalmic ophthalmoplegia endocrine exophthalmos UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0001643 MONDO:0001835 False exophthalmic ophthalmoplegia facial paralysis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001643 MONDO:0003425 False exophthalmic ophthalmoplegia ophthalmoplegia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0001644 MONDO:0003134 False acute proliferative glomerulonephritis proliferative glomerulonephritis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0001644 MONDO:0020683 False acute proliferative glomerulonephritis acute disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001648 MONDO:0001649 False esophageal candidiasis fungal esophagitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001649 MONDO:0043424 False fungal esophagitis digestive system infectious disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0001645 MONDO:0001644 False crescentic glomerulonephritis acute proliferative glomerulonephritis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001646 MONDO:0001200 False benign secondary hypertension secondary hypertension UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001647 MONDO:0001105 False benign renovascular hypertension renal hypertension UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001647 MONDO:0001646 False benign renovascular hypertension benign secondary hypertension UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0001649 MONDO:0100120 False fungal esophagitis vector-borne disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0001650 MONDO:0005247 False acute cystitis bacterial urinary tract infection UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0001650 MONDO:0020683 False acute cystitis acute disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0001653 MONDO:0002149 False prepuce cancer reproductive system cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001653 MONDO:0002898 False prepuce cancer skin cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001655 MONDO:0004843 False dissociated nystagmus pathologic nystagmus UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001663 MONDO:0002175 False hole retinal cyst degeneration of macula and posterior pole UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001664 MONDO:0007886 False submucous uterine fibroid uterine corpus leiomyoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0001666 MONDO:0001898 False retinal dystrophies primarily involving Bruch's membrane optic choroid disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001666 MONDO:0019118 False retinal dystrophies primarily involving Bruch's membrane inherited retinal dystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0001666 MONDO:0043218 False retinal dystrophies primarily involving Bruch's membrane neurovascular disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0001667 MONDO:0021678 False streptobacillus infectious disease gram-negative bacterial infections UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0001668 MONDO:0001670 False internal pathological resorption of tooth tooth resorption UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001670 MONDO:0002220 False tooth resorption tooth hard tissue disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001671 MONDO:0005020 False mucocele of appendix intestinal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001672 MONDO:0000376 False bronchus cancer respiratory system cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0001672 MONDO:0002807 False bronchus cancer bronchial neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001673 MONDO:0004335 False diarrheal disease digestive system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001674 MONDO:0003409 False diverticulitis of colon colonic disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001674 MONDO:0004235 False diverticulitis of colon diverticulitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001676 MONDO:0002520 False erythropoietic protoporphyria hepatic porphyria UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001676 MONDO:0019142 False erythropoietic protoporphyria inherited porphyria UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0001678 MONDO:0002269 False intestinal tuberculosis gastroenteritis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001678 MONDO:0005768 False intestinal tuberculosis gastrointestinal tuberculosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001681 MONDO:0006032 False diphtheritic cystitis cystitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001682 MONDO:0004522 False diphtheritic peritonitis peritonitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001685 MONDO:0002314 False chronic follicular conjunctivitis chronic conjunctivitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001686 MONDO:0004744 False anatomical narrow angle borderline glaucoma borderline glaucoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001687 MONDO:0005129 False diabetic cataract cataract UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001689 MONDO:0001165 False hypertrophy of tongue papillae tongue disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001690 MONDO:0002314 False parasitic conjunctivitis chronic conjunctivitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0001691 MONDO:0002129 False laryngeal cartilage cancer bone cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001691 MONDO:0002352 False laryngeal cartilage cancer larynx cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001692 MONDO:0000596 False pedophilia paraphilic disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001694 MONDO:0004902 False diffuse interstitial keratitis interstitial keratitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001695 MONDO:0002043 False senile ectropion ectropion UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001697 MONDO:0004681 False reading disorder learning disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001698 MONDO:0004678 False tinea profunda dermatophytosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001701 MONDO:0005119 False gastrointestinal anthrax anthrax infection UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0001702 MONDO:0002656 False labia majora carcinoma skin carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001705 MONDO:0002280 False pure red-cell aplasia anemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0001706 MONDO:0005560 False cerebral sarcoidosis brain disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0001706 MONDO:0045047 False cerebral sarcoidosis neurosarcoidosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0001707 MONDO:0016345 False cardiac sarcoidosis non-familial restrictive cardiomyopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -19397,207 +11977,455 @@ MONDO:0001712 MONDO:0000685 False alexia visual agnosia UNSUPPORTED-MISSING UNSU MONDO:0001712 MONDO:0001697 False alexia reading disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0001712 MONDO:0002039 False alexia cognitive disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0001713 MONDO:0003847 False inherited aplastic anemia hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001713 MONDO:0015909 False inherited aplastic anemia aplastic anemia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0001714 MONDO:0005976 False bejel syphilis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001715 MONDO:0001258 False basilar artery occlusion vertebral artery occlusion UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001715 MONDO:0003718 False basilar artery occlusion occlusion precerebral artery UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001715 MONDO:0020673 False basilar artery occlusion arterial occlusion UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0001716 MONDO:0000942 False corneal argyrosis corneal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001717 MONDO:0001308 False posterior corneal pigmentation corneal deposit UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001719 MONDO:0002471 False gonococcal bursitis bursitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0001719 MONDO:0004277 False gonococcal bursitis gonorrhea UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001720 MONDO:0002400 False gonococcal synovitis synovitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0001720 MONDO:0041903 False gonococcal synovitis gonococcal infection of joint UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0001721 MONDO:0004184 False urethral intrinsic sphincter deficiency urethral disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001722 MONDO:0001723 False central pterygium progressive peripheral pterygium UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001723 MONDO:0001055 False progressive peripheral pterygium conjunctival pterygium UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001727 MONDO:0007972 False active cochleovestibular Meniere disease Meniere disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001728 MONDO:0007972 False active vestibular Meniere disease Meniere disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001729 MONDO:0007972 False active cochlear Meniere disease Meniere disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001730 MONDO:0004184 False urethral syndrome urethral disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0001733 MONDO:0004634 False occlusion of tributary of retinal vein vein disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0001733 MONDO:0006951 False occlusion of tributary of retinal vein retinal vein occlusion UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001734 MONDO:0042983 False tuberous sclerosis neurocutaneous syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0001734 MONDO:0000426 False tuberous sclerosis autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001735 MONDO:0002436 False paranasal sinus disorder nasal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001735 MONDO:0005087 False paranasal sinus disorder respiratory system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0001735 MONDO:0024654 False paranasal sinus disorder skull disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0001736 MONDO:0006849 False neonatal infective mastitis mastitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001739 MONDO:0002008 False purulent labyrinthitis labyrinthitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0001740 MONDO:0010150 False cornea squamous cell carcinoma head and neck squamous cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001742 MONDO:0001868 False interval angle-closure glaucoma primary angle-closure glaucoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0001743 MONDO:0017814 False paranasal sinus lymphoma primary bone lymphoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001744 MONDO:0005041 False angle-closure glaucoma glaucoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001745 MONDO:0007886 False subserous uterine fibroid uterine corpus leiomyoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001746 MONDO:0002135 False optic disk drusen optic nerve disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001747 MONDO:0002183 False tibial collateral ligament bursitis enthesopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0001748 MONDO:0002131 False maxillary sinus carcinoma jaw cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0001748 MONDO:0006181 False maxillary sinus carcinoma digestive system carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001749 MONDO:0004847 False cortical senile cataract senile cataract UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0001749 MONDO:0045051 False cortical senile cataract cortical cataract UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0001750 MONDO:0006964 False non-renal secondary hyperparathyroidism secondary hyperparathyroidism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001751 MONDO:0002887 False cholestasis bile duct disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001752 MONDO:0004934 False alveolar periostitis periostitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0001752 MONDO:0006858 False alveolar periostitis mouth disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001754 MONDO:0045048 False eclampsia toxemia of pregnancy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0001753 MONDO:0002654 False female infertility of uterine origin uterine disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001756 MONDO:0000380 False frontal sinus cancer paranasal sinus carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001758 MONDO:0000380 False paranasal sinus sarcoma paranasal sinus carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0001760 MONDO:0043459 False photokeratitis radiation-induced disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0001761 MONDO:0005775 False favism G6PD deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001762 MONDO:0002325 False dentine erosion tooth erosion, non-bacterial UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001763 MONDO:0000380 False ethmoid sinus cancer paranasal sinus carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001765 MONDO:0001824 False polyneuropathy in collagen vascular disease polyneuropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001766 MONDO:0001854 False eversion of lacrimal punctum lacrimal apparatus disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001767 MONDO:0001854 False stenosis of lacrimal punctum lacrimal apparatus disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0001767 MONDO:0003382 False stenosis of lacrimal punctum eyelid disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001768 MONDO:0001854 False stenosis of lacrimal passage lacrimal apparatus disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0001768 MONDO:0003382 False stenosis of lacrimal passage eyelid disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0001769 MONDO:0044984 False acquired tear duct stenosis nasolacrimal duct disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0001770 MONDO:0001933 False gastrin secretion abnormality endocrine pancreas disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001771 MONDO:0002127 False infective urethral stricture urethral stricture UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0001771 MONDO:0021669 False infective urethral stricture post-infectious disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0001772 MONDO:0001593 False ulcer of anus and rectum rectal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001773 MONDO:0019956 False post-vaccinal encephalitis encephalitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001774 MONDO:0001718 False posterior scleritis scleritis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001775 MONDO:0002688 False chronic duodenal ileus duodenal obstruction UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001776 MONDO:0003105 False prostate calculus prostate disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001776 MONDO:0004828 False prostate calculus lower urinary tract calculus UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001777 MONDO:0001650 False acute gonococcal cystitis acute cystitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0001777 MONDO:0021160 False acute gonococcal cystitis gonococcal cystitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0001781 MONDO:0002373 False uterine corpus adenomatoid tumor benign mesothelioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001782 MONDO:0005129 False mature cataract cataract UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0001783 MONDO:0004526 False endometrial stromal nodule mixed endometrial stromal and smooth muscle tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0001784 MONDO:0000959 False malignant renovascular hypertension malignant hypertensive renal disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001784 MONDO:0001105 False malignant renovascular hypertension renal hypertension UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001784 MONDO:0001785 False malignant renovascular hypertension malignant secondary hypertension UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001785 MONDO:0001200 False malignant secondary hypertension secondary hypertension UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0001785 MONDO:0006846 False malignant secondary hypertension malignant hypertension UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001786 MONDO:0002654 False uterine inflammatory disease uterine disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001787 MONDO:0002405 False hepatic infarction hepatic vascular disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001788 MONDO:0002405 False nutmeg liver hepatic vascular disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0001791 MONDO:0005247 False neonatal urinary tract infectious disease bacterial urinary tract infection UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001794 MONDO:0021201 False Pthirus pubis infestation skin infection UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0001792 MONDO:0001793 False epiphora due to insufficient drainage excessive tearing UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001793 MONDO:0001854 False excessive tearing lacrimal apparatus disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001794 MONDO:0003472 False Pthirus pubis infestation lice infestation UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0001795 MONDO:0024294 False plantar wart skin disorder caused by infection UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0001795 MONDO:0100329 False plantar wart primary viral infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0001797 MONDO:0000314 False chancroid primary bacterial infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0001797 MONDO:0005323 False chancroid bacterial sexually transmitted disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0001797 MONDO:0006926 False chancroid haemophilus infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0001798 MONDO:0006816 False hypermobility syndrome arthropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001799 MONDO:0001269 False localized anterior staphyloma scleral disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001800 MONDO:0001269 False equatorial staphyloma scleral disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001801 MONDO:0001269 False staphyloma posticum scleral disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0001802 MONDO:0020683 False acute tympanitis acute disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0001802 MONDO:0024616 False acute tympanitis tympanitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0001803 MONDO:0003648 False myringitis bullosa hemorrhagica tympanic membrane disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001804 MONDO:0001718 False anterior scleritis scleritis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001805 MONDO:0004379 False female breast central part cancer female breast carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001808 MONDO:0002654 False chronic subinvolution of uterus uterine disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001809 MONDO:0002654 False adhesions of uterus uterine disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001810 MONDO:0003620 False hypoglossal nerve disorder peripheral nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001812 MONDO:0004785 False parasitic eyelid infestation blepharitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0001812 MONDO:0020947 False parasitic eyelid infestation parasitic eye infection UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0001813 MONDO:0004785 False squamous blepharitis blepharitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001815 MONDO:0005395 False extrapyramidal and movement disease movement disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001816 MONDO:0001718 False scleroperikeratitis scleritis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0001816 MONDO:0003085 False scleroperikeratitis keratitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001817 MONDO:0001868 False acute closed-angle glaucoma primary angle-closure glaucoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0001817 MONDO:0020683 False acute closed-angle glaucoma acute disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0001818 MONDO:0002098 False facial neuralgia facial nerve disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0001818 MONDO:0016374 False facial neuralgia cranial neuralgia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0001819 MONDO:0002782 False multiple cranial nerve palsy cranial nerve palsy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001823 MONDO:0002254 False sick sinus syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001824 MONDO:0005244 False polyneuropathy peripheral neuropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001820 MONDO:0002008 False focal labyrinthitis labyrinthitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001821 MONDO:0000947 False hypoactive sexual desire disorder psychosexual disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001822 MONDO:0002525 False hypolipoproteinemia inherited lipid metabolism disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001823 MONDO:0000469 False sick sinus syndrome sinoatrial node disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0001827 MONDO:0000253 False white piedra piedra UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0001827 MONDO:0000306 False white piedra trichosporonosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0001829 MONDO:0024432 False lumbosacral plexus lesion nerve plexus disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001830 MONDO:0003117 False somatization disorder somatoform disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001831 MONDO:0011284 False irregular astigmatism astigmatism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0001832 MONDO:0043424 False bacterial esophagitis digestive system infectious disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0001832 MONDO:0100120 False bacterial esophagitis vector-borne disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0001833 MONDO:0044984 False lacrimal duct obstruction nasolacrimal duct disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0001834 MONDO:0005560 False visual pathway disorder brain disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001834 MONDO:0021084 False visual pathway disorder vision disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0001835 MONDO:0006496 False facial paralysis palsy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0001837 MONDO:0001173 False acute gonococcal salpingitis acute salpingitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0001837 MONDO:0021159 False acute gonococcal salpingitis gonococcal salpingitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0001838 MONDO:0020683 False acute gonococcal prostatitis acute disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0001838 MONDO:0021161 False acute gonococcal prostatitis gonococcal prostatitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0001843 MONDO:0007886 False uterus interstitial leiomyoma uterine corpus leiomyoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001847 MONDO:0004847 False nuclear senile cataract senile cataract UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0001847 MONDO:0045050 False nuclear senile cataract nuclear cataract UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0001848 MONDO:0045049 False Morgagni cataract hypermature cataract UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0001849 MONDO:0004751 False chronic orbital inflammation disease of orbital part of eye adnexa UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001850 MONDO:0004379 False female breast lower-outer quadrant cancer female breast carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001851 MONDO:0001854 False primary lacrimal atrophy lacrimal apparatus disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001853 MONDO:0002307 False contact blepharoconjunctivitis blepharoconjunctivitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0001854 MONDO:0000462 False lacrimal apparatus disorder eye adnexa disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0001855 MONDO:0005283 False rubeosis iridis retinal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001856 MONDO:0000473 False splenic artery aneurysm arterial disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001857 MONDO:0005683 False Brucella canis brucellosis brucellosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001858 MONDO:0002254 False Tietze syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0001858 MONDO:0006816 False Tietze syndrome arthropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001859 MONDO:0019369 False algoneurodystrophy complex regional pain syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001860 MONDO:0006873 False folic acid deficiency anemia nutritional deficiency disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001861 MONDO:0006294 False malignant parietal pleura tumor pleural cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001862 MONDO:0006294 False malignant visceral pleura tumor pleural cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001863 MONDO:0005561 False aorta atresia aortic disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001864 MONDO:0001868 False residual stage angle-closure glaucoma primary angle-closure glaucoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001866 MONDO:0004985 False bipolar I disorder bipolar disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0001867 MONDO:0002312 False phaeohyphomycosis opportunistic mycosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0001867 MONDO:0044083 False phaeohyphomycosis alternariosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0001868 MONDO:0001744 False primary angle-closure glaucoma angle-closure glaucoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0001869 MONDO:0001528 False paraurethral gland cancer vulva cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0001869 MONDO:0002219 False paraurethral gland cancer paraurethral gland neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001870 MONDO:0002462 False acute poststreptococcal glomerulonephritis glomerulonephritis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0001870 MONDO:0020683 False acute poststreptococcal glomerulonephritis acute disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0001871 MONDO:0020683 False acute diffuse glomerulonephritis acute disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0001873 MONDO:0021166 False geniculate ganglionitis inflammatory disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0001873 MONDO:0021260 False geniculate ganglionitis sensory ganglionopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0001874 MONDO:0002008 False toxic labyrinthitis labyrinthitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001875 MONDO:0002614 False epicondylitis bone inflammation disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0001875 MONDO:0021166 False epicondylitis inflammatory disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0001876 MONDO:0000980 False renal artery atheroma aortic atherosclerosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001876 MONDO:0002286 False renal artery atheroma renal artery disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001877 MONDO:0005372 False infertility due to extratesticular cause male infertility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0001878 MONDO:0001560 False acquired hypertrophic pyloric stenosis hypertrophic pyloric stenosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0001879 MONDO:0006519 False anus cancer rectal cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001881 MONDO:0002254 False toxic shock syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001880 MONDO:0006771 False median rhomboid glossitis glossitis UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001881 MONDO:0000315 False toxic shock syndrome commensal bacterial infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001882 MONDO:0002118 False bacteriuria urinary system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001883 MONDO:0005568 False blue toe syndrome cholesterol embolism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001887 MONDO:0002263 False Allen-Masters syndrome female reproductive system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0001887 MONDO:0045043 False Allen-Masters syndrome disorder of uterine broad ligament UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0001888 MONDO:0002166 False anus lymphoma rectum lymphoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001890 MONDO:0002325 False pulp erosion tooth erosion, non-bacterial UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0001890 MONDO:0003394 False pulp erosion dental pulp disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0001895 MONDO:0020683 False acute retrobulbar neuritis acute disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0001895 MONDO:0024335 False acute retrobulbar neuritis retrobulbar neuritis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0001897 MONDO:0002467 False bilateral hyperactive labyrinth inner ear disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0001898 MONDO:0005552 False optic choroid disorder ocular vascular disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0001899 MONDO:0005009 False rheumatic congestive heart failure congestive heart failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0001899 MONDO:0006955 False rheumatic congestive heart failure rheumatic heart disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0001901 MONDO:0015697 False selective IgG subclass deficiency immunoglobulin heavy chain deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001901 MONDO:0045045 False selective IgG subclass deficiency selective IgG immunodeficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0001902 MONDO:0009332 False congenital agammaglobulinemia congenital hematological disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0001902 MONDO:0015977 False congenital agammaglobulinemia agammaglobulinemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001903 MONDO:0004857 False calcific tendinitis tendinitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0001904 MONDO:0001824 False polyneuropathy due to drug polyneuropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001905 MONDO:0004855 False bicipital tenosynovitis tenosynovitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0001906 MONDO:0001176 False posterior dislocation of lens lens disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0001909 MONDO:0006022 False renal tubular acidosis acidosis disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0001909 MONDO:0006510 False renal tubular acidosis renal tubular transport disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0001909 MONDO:0021568 False renal tubular acidosis renal tubule disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0001910 MONDO:0003900 False ochronosis disorder connective tissue disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0001910 MONDO:0005172 False ochronosis disorder skeletal system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0001910 MONDO:0045022 False ochronosis disorder disorder of organic acid metabolism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0001911 MONDO:0002567 False tracheal calcification tracheal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001912 MONDO:0001121 False acute frontal sinusitis frontal sinusitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0001912 MONDO:0020683 False acute frontal sinusitis acute disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0001913 MONDO:0005372 False oligospermia male infertility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0001914 MONDO:0040699 False scleromalacia perforans necrotizing scleritis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0001915 MONDO:0004751 False orbital cyst disease of orbital part of eye adnexa UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001917 MONDO:0002246 False chronic perichondritis of pinna perichondritis of auricle UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001918 MONDO:0001793 False epiphora due to excess lacrimation excessive tearing UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001919 MONDO:0002175 False cystoid macular retinal degeneration degeneration of macula and posterior pole UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001920 MONDO:0005975 False chronic purulent otitis media suppurative otitis media UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0001920 MONDO:0021204 False chronic purulent otitis media chronic otitis media UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001922 MONDO:0005227 False pyoureter abscess UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0001921 MONDO:0001920 False chronic atticoantral disease chronic purulent otitis media UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001922 MONDO:0001926 False pyoureter ureteral disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0001922 MONDO:0100338 False pyoureter urinary tract infection UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001925 MONDO:0019118 False retinal dystrophy in systemic or cerebroretinal lipidoses inherited retinal dystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0001930 MONDO:0020683 False acute cholangitis acute disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0001931 MONDO:0004789 False pericholangitis cholangitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001935 MONDO:0006816 False neurogenic arthropathy arthropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001936 MONDO:0001804 False brawny scleritis anterior scleritis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0001940 MONDO:0000986 False pleuropneumonia pleurisy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001941 MONDO:0021084 False blindness (disorder) vision disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0001940 MONDO:0005249 False pleuropneumonia pneumonia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001944 MONDO:0005136 False mixed malaria malaria UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0001945 MONDO:0021095 False postencephalitic Parkinson disease parkinsonian disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001949 MONDO:0004126 False acute thyroiditis thyroiditis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0001949 MONDO:0020683 False acute thyroiditis acute disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0001950 MONDO:0000942 False corneal ectasia corneal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001952 MONDO:0002731 False parietal lobe cancer cerebral hemisphere cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0001952 MONDO:0021373 False parietal lobe cancer neoplasm of parietal lobe UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0001953 MONDO:0002118 False pyuria urinary system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001954 MONDO:0002800 False thrombophlebitis migrans thrombophlebitis UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001955 MONDO:0001517 False protozoal dysentery dysentery UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0001955 MONDO:0002428 False protozoal dysentery protozoa infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0001955 MONDO:0024270 False protozoal dysentery parasitic intestinal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001956 MONDO:0002254 False capillary leak syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001956 MONDO:0001574 False capillary leak syndrome capillary disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0001957 MONDO:0001824 False critical illness polyneuropathy polyneuropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001959 MONDO:0002467 False labyrinthine bilateral reactive loss inner ear disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001962 MONDO:0001933 False abnormality of glucagon secretion endocrine pancreas disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001964 MONDO:0005975 False chronic tubotympanic suppurative otitis media suppurative otitis media UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0001965 MONDO:0001804 False sclerosing keratitis anterior scleritis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001965 MONDO:0004903 False sclerosing keratitis deep keratitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001966 MONDO:0001868 False chronic closed-angle glaucoma primary angle-closure glaucoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0001967 MONDO:0002146 False gonadal dysgenesis hypogonadism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0001969 MONDO:0019499 False mixed gonadal dysgenesis Turner syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001971 MONDO:0017853 False farmer's lung disease hypersensitivity pneumonitis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0001971 MONDO:0022736 False farmer's lung disease occupational lung disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0001972 MONDO:0005683 False Brucella melitensis brucellosis brucellosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001973 MONDO:0005683 False Brucella abortus brucellosis brucellosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001976 MONDO:0001595 False chorea gravidarum choreatic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0001976 MONDO:0024575 False chorea gravidarum pregnancy disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001979 MONDO:0002254 False dumping syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001979 MONDO:0004566 False dumping syndrome postgastrectomy syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0001982 MONDO:0015531 False Niemann-Pick disease non-Langerhans cell histiocytosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001983 MONDO:0001515 False peripheral degeneration of cornea corneal degeneration UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001984 MONDO:0002026 False candidal paronychia candidiasis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001986 MONDO:0001303 False Argyll Robertson pupil abnormal pupillary function UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0001987 MONDO:0005559 False senile degeneration of brain neurodegenerative disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001988 MONDO:0001670 False external pathological resorption tooth resorption UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001989 MONDO:0006771 False atrophic glossitis glossitis UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0001992 MONDO:0005447 False rete testis adenocarcinoma testicular cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0001993 MONDO:0005447 False seminal vesicle adenocarcinoma testicular cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001994 MONDO:0000380 False sphenoidal sinus cancer paranasal sinus carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001996 MONDO:0004744 False steroid-induced glaucoma - borderline borderline glaucoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001997 MONDO:0001670 False root resorption tooth resorption UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001998 MONDO:0002003 False Foster-Kennedy syndrome papilledema UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001999 MONDO:0001493 False primary pulmonary hypertension chronic pulmonary heart disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002000 MONDO:0006670 False anaerobic meningitis bacterial meningitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0002000 MONDO:0024389 False anaerobic meningitis anaerobic bacteria infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002008 MONDO:0021166 False labyrinthitis inflammatory disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0002002 MONDO:0005420 False postsurgical hypothyroidism hypothyroidism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002003 MONDO:0002135 False papilledema optic nerve disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002004 MONDO:0005240 False atheroembolism of kidney kidney disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002004 MONDO:0005568 False atheroembolism of kidney cholesterol embolism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002006 MONDO:0002008 False serous labyrinthitis labyrinthitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002010 MONDO:0002254 False FG syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002010 MONDO:0003847 False FG syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002012 MONDO:0000688 False methylmalonic acidemia inborn organic aciduria UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002013 MONDO:0000629 False lymphangioma cardiovascular organ benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0002013 MONDO:0036976 False lymphangioma benign epithelial neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0002014 MONDO:0006025 False autosomal recessive Ehlers-Danlos syndrome, vascular type autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0002014 MONDO:0017314 False autosomal recessive Ehlers-Danlos syndrome, vascular type Ehlers-Danlos syndrome, vascular type UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0002016 MONDO:0000412 False benign familial neonatal epilepsy neonatal period electroclinical syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002017 MONDO:0005559 False olivopontocerebellar atrophy neurodegenerative disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002021 MONDO:0002635 False gingival disorder periodontal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0002021 MONDO:0044992 False gingival disorder mouth mucosa disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0002022 MONDO:0700096 False disorder of orbital region human disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0002025 MONDO:0700096 False psychiatric disorder human disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0002026 MONDO:0002312 False candidiasis opportunistic mycosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002029 MONDO:0002030 False chronic gonorrhea of cervix chronic cervicitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0002029 MONDO:0021157 False chronic gonorrhea of cervix gonococcal cervicitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0002031 MONDO:0003409 False cecal disorder colonic disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0002032 MONDO:0024479 False colon carcinoma epithelial tumor of colon UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0002037 MONDO:0000270 False pleural disorder lower respiratory tract disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002040 MONDO:0000254 False dermatomycosis cutaneous mycosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002042 MONDO:0002043 False mechanical ectropion ectropion UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002043 MONDO:0003382 False ectropion eyelid disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002044 MONDO:0002043 False spastic ectropion ectropion UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002046 MONDO:0002491 False alcohol abuse substance abuse UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0002046 MONDO:0021698 False alcohol abuse alcohol-related disorders UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0002047 MONDO:0005100 False pulmonary systemic sclerosis systemic sclerosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002047 MONDO:0005275 False pulmonary systemic sclerosis lung disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0002049 MONDO:0002245 False thrombocytopenia blood platelet disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0002051 MONDO:0700096 False integumentary system disorder human disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0002052 MONDO:0021166 False lymphadenitis inflammatory disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002063 MONDO:0000620 False breast papillomatosis breast benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002063 MONDO:0002363 False breast papillomatosis papilloma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002063 MONDO:0021098 False breast papillomatosis papillomatosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0002056 MONDO:0000620 False breast fibroadenoma breast benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002064 MONDO:0001574 False breast angiomatosis capillary disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0002065 MONDO:0036976 False benign breast adenomyoepithelioma benign epithelial neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0002067 MONDO:0004379 False female breast upper-inner quadrant cancer female breast carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002068 MONDO:0004379 False female breast lower-inner quadrant cancer female breast carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002069 MONDO:0004379 False female breast axillary tail cancer female breast carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002070 MONDO:0002078 False ventricular septal defect heart septal defect UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0002070 MONDO:0003847 False ventricular septal defect hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0002072 MONDO:0005462 False melanotic neuroectodermal tumor primitive neuroectodermal tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002075 MONDO:0002076 False spontaneous tension pneumothorax pneumothorax UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002077 MONDO:0005918 False low implantation of placenta placenta praevia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0002081 MONDO:0700096 False musculoskeletal system disorder human disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002083 MONDO:0021058 False Richter syndrome neoplastic syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0002083 MONDO:0024882 False Richter syndrome secondary neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0002085 MONDO:0005395 False benign shuddering attacks movement disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0002089 MONDO:0020672 False retinal vascular occlusion vascular occlusion disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0002098 MONDO:0003620 False facial nerve disorder peripheral nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002099 MONDO:0018312 False Histoplasma capsulatum infectious disease histoplasmosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0002102 MONDO:0021166 False cheilitis inflammatory disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0002104 MONDO:0003117 False conversion disorder somatoform disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002105 MONDO:0001273 False toxic megacolon megacolon UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002106 MONDO:0002467 False labyrinthine unilateral reactive loss inner ear disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002107 MONDO:0002467 False unilateral hyperactive labyrinth inner ear disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002108 MONDO:0021069 False thyroid cancer malignant endocrine neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0002109 MONDO:0002132 False pituitary cancer skull cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0002109 MONDO:0003766 False pituitary cancer thalamic cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002109 MONDO:0021069 False pituitary cancer malignant endocrine neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0002112 MONDO:0002373 False benign peritoneal mesothelioma benign mesothelioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002113 MONDO:0002087 False peritoneal carcinoma peritoneum cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002113 MONDO:0004993 False peritoneal carcinoma carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0002118 MONDO:0700096 False urinary system disorder human disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0002119 MONDO:0000631 False ossifying fibroma bone benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002121 MONDO:0001397 False mononeuritis simplex mononeuropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0002121 MONDO:0002122 False mononeuritis simplex neuritis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0002122 MONDO:0021166 False neuritis inflammatory disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0002123 MONDO:0005557 False calcinosis calcium metabolic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002124 MONDO:0001854 False secondary lacrimal atrophy lacrimal apparatus disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002125 MONDO:0005027 False status epilepticus epilepsy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002127 MONDO:0001556 False urethral stricture urethral obstruction UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002128 MONDO:0003607 False mononeuritis multiplex neuritis of upper limb UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002129 MONDO:0000637 False bone cancer musculoskeletal system cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002130 MONDO:0002121 False upper limb mononeuronitis mononeuritis simplex UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002130 MONDO:0003607 False upper limb mononeuronitis neuritis of upper limb UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0002131 MONDO:0002132 False jaw cancer skull cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0002131 MONDO:0002516 False jaw cancer digestive system cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0002131 MONDO:0021580 False jaw cancer neoplasm of jaw UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0002132 MONDO:0002129 False skull cancer bone cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0002132 MONDO:0005627 False skull cancer head and neck cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0002132 MONDO:0024653 False skull cancer skull neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0002133 MONDO:0024655 False chronic rheumatic pericarditis rheumatic pericarditis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0002134 MONDO:0005039 False physiological sexual disorder reproductive system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0002135 MONDO:0002602 False optic nerve disorder central nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0002135 MONDO:0024458 False optic nerve disorder disorder of visual system UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0002136 MONDO:0002137 False eczematous dermatitis of eyelid noninfectious dermatoses of eyelid UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002137 MONDO:0004785 False noninfectious dermatoses of eyelid blepharitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002138 MONDO:0002137 False allergic contact dermatitis of eyelid noninfectious dermatoses of eyelid UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0002138 MONDO:0005551 False allergic contact dermatitis of eyelid eye allergy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0002138 MONDO:0006525 False allergic contact dermatitis of eyelid allergic contact dermatitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002139 MONDO:0003409 False sigmoid disease colonic disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0002142 MONDO:0005509 False undifferentiated pleomorphic sarcoma histiocytoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002142 MONDO:0021054 False undifferentiated pleomorphic sarcoma bone sarcoma UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0002143 MONDO:0016094 False vaginal yolk sac tumor vaginal germ cell malignant tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002155 MONDO:0005281 False cholecystitis gallbladder disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002145 MONDO:0002259 False disorder of sexual differentiation gonadal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002145 MONDO:0019755 False disorder of sexual differentiation developmental defect during embryogenesis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0002150 MONDO:0003081 False hypothalamic disorder thalamic disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002152 MONDO:0003432 False intermittent squint strabismus UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002155 MONDO:0004789 False cholecystitis cholangitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002163 MONDO:0005106 False thymus lipoma lipoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0002163 MONDO:0021512 False thymus lipoma benign neoplasm of thymus UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0002164 MONDO:0004674 False focal chorioretinitis chorioretinitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0002165 MONDO:0001593 False rectal neoplasm rectal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002170 MONDO:0002172 False chronic eustachian salpingitis otosalpingitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0002170 MONDO:0021204 False chronic eustachian salpingitis chronic otitis media UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002173 MONDO:0003620 False neuroma peripheral nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002172 MONDO:0005441 False otosalpingitis otitis media UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002174 MONDO:0002175 False preretinal fibrosis degeneration of macula and posterior pole UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002175 MONDO:0003004 False degeneration of macula and posterior pole macular degeneration UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0002177 MONDO:0001933 False hyperinsulinism endocrine pancreas disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002177 MONDO:0002908 False hyperinsulinism glucose metabolism disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002178 MONDO:0002715 False placenta cancer uterine cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002181 MONDO:0002185 False exostosis hyperostosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002182 MONDO:0000592 False communication disorder specific developmental disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002183 MONDO:0002081 False enthesopathy musculoskeletal system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002183 MONDO:0003900 False enthesopathy connective tissue disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002184 MONDO:0002251 False drug-induced hepatitis hepatitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0002184 MONDO:0005359 False drug-induced hepatitis drug-induced liver injury UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0002185 MONDO:0000833 False hyperostosis bone remodeling disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002186 MONDO:0005842 False acute maxillary sinusitis maxillary sinusitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0002186 MONDO:0020683 False acute maxillary sinusitis acute disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0002192 MONDO:0000643 False vulvar angiokeratoma vulvar benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0002192 MONDO:0003954 False vulvar angiokeratoma angiokeratoma of Fordyce UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002193 MONDO:0000626 False Bartholin gland benign neoplasm vestibular gland benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0002193 MONDO:0000652 False Bartholin gland benign neoplasm integumentary system benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0002193 MONDO:0021114 False Bartholin gland benign neoplasm Bartholin gland neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0002196 MONDO:0006807 False perinatal intestinal perforation intestinal perforation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002197 MONDO:0000626 False minor vestibular glands adenoma vestibular gland benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0002197 MONDO:0002219 False minor vestibular glands adenoma paraurethral gland neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0002197 MONDO:0004177 False minor vestibular glands adenoma benign urethral neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002200 MONDO:0002090 False eccrine mixed tumor of skin eccrine sweat gland neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0002203 MONDO:0004880 False constipation disorder bowel dysfunction UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0002204 MONDO:0001429 False transient arthritis transient arthropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0002204 MONDO:0005578 False transient arthritis arthritic joint disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002209 MONDO:0002181 False heel spur exostosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002211 MONDO:0003778 False B cell deficiency inborn error of immunity UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0002211 MONDO:0004805 False B cell deficiency leukocyte disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002211 MONDO:0021094 False B cell deficiency immunodeficiency disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0002212 MONDO:0018077 False pneumonic tularemia tularemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002218 MONDO:0002731 False temporal lobe cancer cerebral hemisphere cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0002218 MONDO:0021372 False temporal lobe cancer neoplasm of temporal lobe UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0002219 MONDO:0021049 False paraurethral gland neoplasm vulvar neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0002220 MONDO:0006999 False tooth hard tissue disease tooth disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0002224 MONDO:0003282 False malignant ovarian cyst ovarian cyst UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002224 MONDO:0008170 False malignant ovarian cyst ovarian cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002226 MONDO:0006002 False tuberculous oophoritis urogenital tuberculosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0002226 MONDO:0006877 False tuberculous oophoritis oophoritis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002232 MONDO:0002436 False nasal cavity disorder nasal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002232 MONDO:0004867 False nasal cavity disorder upper respiratory tract disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002233 MONDO:0005276 False enamel caries dental caries UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0002234 MONDO:0021166 False vaginitis inflammatory disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0002235 MONDO:0002531 False eyelid neoplasm skin neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002236 MONDO:0000649 False ocular cancer sensory system cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0002236 MONDO:0005627 False ocular cancer head and neck cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002237 MONDO:0002922 False carbuncle pyoderma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002238 MONDO:0021063 False ascending colon cancer malignant colon neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002239 MONDO:0001933 False post-surgical hypoinsulinemia endocrine pancreas disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0002240 MONDO:0001051 False acute perichondritis of pinna acute otitis externa UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002240 MONDO:0002246 False acute perichondritis of pinna perichondritis of auricle UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0002241 MONDO:0002242 False factor XIII deficiency coagulation protein disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002242 MONDO:0001531 False coagulation protein disease blood coagulation disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0002244 MONDO:0002242 False factor VII deficiency coagulation protein disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0002244 MONDO:0002243 False factor VII deficiency hemorrhagic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002245 MONDO:0005570 False blood platelet disease hematologic disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002247 MONDO:0002242 False factor X deficiency coagulation protein disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0002246 MONDO:0004795 False perichondritis of auricle otitis externa UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0002247 MONDO:0002243 False factor X deficiency hemorrhagic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0002249 MONDO:0002245 False thrombocytosis disease blood platelet disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002250 MONDO:0001631 False basilar artery insufficiency vertebral artery insufficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002250 MONDO:0000473 False basilar artery insufficiency arterial disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002250 MONDO:0020674 False basilar artery insufficiency vascular insufficiency disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0002251 MONDO:0021166 False hepatitis inflammatory disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0002253 MONDO:0000836 False spondylosis disease of bone structure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0002254 MONDO:0700096 False syndromic disease human disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0002255 MONDO:0002256 False hypertrophic elongation of cervix cervix disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002257 MONDO:0006816 False ankylosis arthropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002258 MONDO:0004867 False pharyngitis upper respiratory tract disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0002258 MONDO:0021166 False pharyngitis inflammatory disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002259 MONDO:0005039 False gonadal disorder reproductive system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002259 MONDO:0005151 False gonadal disorder endocrine system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0002260 MONDO:0021166 False hidradenitis inflammatory disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0002260 MONDO:0024467 False hidradenitis apocrine sweat gland disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0002262 MONDO:0001574 False capillary lymphangioma capillary disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002262 MONDO:0002013 False capillary lymphangioma lymphangioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002262 MONDO:0024286 False capillary lymphangioma benign blood vessel neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002265 MONDO:0000592 False stereotypic movement disorder specific developmental disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0002266 MONDO:0000266 False malt worker's lung pulmonary aspergilloma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0002266 MONDO:0015243 False malt worker's lung allergic bronchopulmonary aspergillosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002266 MONDO:0017853 False malt worker's lung hypersensitivity pneumonitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002267 MONDO:0005275 False obstructive lung disease lung disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0002268 MONDO:0001318 False dyspepsia functional gastric disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0002269 MONDO:0005020 False gastroenteritis intestinal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002269 MONDO:0021166 False gastroenteritis inflammatory disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002270 MONDO:0043424 False viral gastritis digestive system infectious disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0002272 MONDO:0002273 False polyclonal hypergammaglobulinemia plasma protein metabolism disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002273 MONDO:0019052 False plasma protein metabolism disease inborn errors of metabolism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002274 MONDO:0002273 False monoclonal paraproteinemia disease plasma protein metabolism disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0002274 MONDO:0004960 False monoclonal paraproteinemia disease monoclonal gammopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0002282 MONDO:0005763 False West Nile fever Flaviviridae infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0002282 MONDO:0100120 False West Nile fever vector-borne disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -19609,148 +12437,260 @@ MONDO:0002290 MONDO:0024877 False clitoris cancer clitoris neoplasm UNSUPPORTED- MONDO:0002293 MONDO:0002898 False cutaneous ganglioneuroma skin cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0002297 MONDO:0024481 False epidermal appendage tumor skin appendage disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0002300 MONDO:0021154 False dermis tumor dermis disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0002303 MONDO:0004634 False central retinal vein occlusion vein disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002306 MONDO:0002307 False angular blepharoconjunctivitis blepharoconjunctivitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0002307 MONDO:0003799 False blepharoconjunctivitis conjunctivitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002307 MONDO:0004785 False blepharoconjunctivitis blepharitis UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0002308 MONDO:0002307 False giant papillary conjunctivitis blepharoconjunctivitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002311 MONDO:0005552 False retinal vascular disorder ocular vascular disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0002310 MONDO:0005328 False anterior dislocation of lens eye disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0002311 MONDO:0043218 False retinal vascular disorder neurovascular disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0002312 MONDO:0002041 False opportunistic mycosis fungal infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002317 MONDO:0005560 False central nervous system origin vertigo brain disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002322 MONDO:0005385 False angiodysplasia vascular disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002325 MONDO:0006999 False tooth erosion, non-bacterial tooth disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0002326 MONDO:0005084 False alcohol-induced mental disorder mental disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0002327 MONDO:0003641 False intracranial cavernous angioma central nervous system hematopoietic neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0002328 MONDO:0003241 False intracranial hemangioma central nervous system hemangioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0002328 MONDO:0021451 False intracranial hemangioma benign neoplasm of brain UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0002329 MONDO:0002259 False testicular disorder gonadal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002330 MONDO:0002326 False alcoholic psychosis alcohol-induced mental disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002330 MONDO:0005485 False alcoholic psychosis psychotic disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0002330 MONDO:0021698 False alcoholic psychosis alcohol-related disorders UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002333 MONDO:0005227 False splenic abscess abscess UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002335 MONDO:0003334 False chronic inflammatory demyelinating polyneuritis demyelinating polyneuropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002331 MONDO:0005240 False nephrosis kidney disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002332 MONDO:0005833 False splenic disorder lymphatic system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002334 MONDO:0005570 False hematopoietic and lymphoid system neoplasm hematologic disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0002335 MONDO:0003335 False chronic inflammatory demyelinating polyneuritis chronic polyneuropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0002335 MONDO:0021166 False chronic inflammatory demyelinating polyneuritis inflammatory disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002341 MONDO:0043494 False granulomatous angiitis arteritis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0002342 MONDO:0003816 False chondromalacia articular cartilage disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002347 MONDO:0005303 False barbiturate dependence drug dependence UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0002350 MONDO:0100191 False familial nephrotic syndrome inherited kidney disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002356 MONDO:0004335 False pancreas disorder digestive system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002352 MONDO:0000376 False larynx cancer respiratory system cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002354 MONDO:0000382 False benign laryngeal neoplasm respiratory system benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002356 MONDO:0005151 False pancreas disorder endocrine system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002357 MONDO:0002238 False hepatic flexure cancer ascending colon cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0002360 MONDO:0000636 False chondroma musculoskeletal system benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0002360 MONDO:0005172 False chondroma skeletal system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0002360 MONDO:0021581 False chondroma connective tissue neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0002361 MONDO:0021063 False transverse colon cancer malignant colon neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0002365 MONDO:0021163 False kidney hemangiopericytoma kidney neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0002366 MONDO:0001292 False autonomic nervous system neoplasm autonomic nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0002366 MONDO:0006130 False autonomic nervous system neoplasm central nervous system neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0002369 MONDO:0004972 False cystadenoma adenoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0002373 MONDO:0005065 False benign mesothelioma mesothelioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0002373 MONDO:0005165 False benign mesothelioma benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0002380 MONDO:0005626 False myoepithelial tumor epithelial neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0002381 MONDO:0006615 False sweat gland neoplasm sweat gland disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0002382 MONDO:0005165 False benign mesenchymoma benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0002385 MONDO:0002513 False benign cystic nephroma kidney benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0002386 MONDO:0003272 False mixed epithelial stromal tumor of the kidney mixed epithelial stromal tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0002388 MONDO:0021097 False intracystic papillary adenoma intraductal breast papilloma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0002395 MONDO:0036976 False renal adenoma benign epithelial neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0002398 MONDO:0036976 False mucinous adenofibroma benign epithelial neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0002400 MONDO:0003900 False synovitis connective tissue disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0002400 MONDO:0005578 False synovitis arthritic joint disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0002400 MONDO:0043786 False synovitis serositis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0002400 MONDO:0056799 False synovitis synovium disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0002402 MONDO:0002171 False malignant giant cell tumor giant cell tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002403 MONDO:0000637 False synovium cancer musculoskeletal system cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002404 MONDO:0000627 False liver hemangioma benign endocrine neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0002406 MONDO:0021166 False dermatitis inflammatory disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0002408 MONDO:0017755 False hereditary hyperbilirubinemia inborn disorder of bilirubin metabolism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0002408 MONDO:0024288 False hereditary hyperbilirubinemia hyperbilirubinemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0002409 MONDO:0700096 False auditory system disorder human disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0002410 MONDO:0006938 False pyeloureteritis cystica pyelitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002412 MONDO:0019214 False disorder of glycogen metabolism inborn carbohydrate metabolic disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0002412 MONDO:0019243 False disorder of glycogen metabolism inborn disorder of energy metabolism UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002419 MONDO:0005395 False transient tic disorder movement disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002415 MONDO:0002129 False bone carcinoma bone cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002415 MONDO:0004993 False bone carcinoma carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002419 MONDO:0002420 False transient tic disorder tic disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002420 MONDO:0000592 False tic disorder specific developmental disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0002422 MONDO:0002415 False adamantinoma bone carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002423 MONDO:0006971 False rectosigmoid junction neoplasm sigmoid neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0002424 MONDO:0002032 False rectosigmoid carcinoma colon carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0002424 MONDO:0044937 False rectosigmoid carcinoma rectal carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0002425 MONDO:0001464 False rectosigmoid junction cancer sigmoid colon cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0002425 MONDO:0006519 False rectosigmoid junction cancer rectal cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002427 MONDO:0005560 False cerebellar disorder brain disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0002429 MONDO:0700007 False idiopathic interstitial pneumonia idiopathic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0002432 MONDO:0004532 False malignant neoplasm of acoustic nerve auditory system cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0002433 MONDO:0005627 False malignant cranial nerve neoplasm head and neck cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0002433 MONDO:0021089 False malignant cranial nerve neoplasm peripheral nervous system cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0002436 MONDO:0024623 False nasal disorder otorhinolaryngologic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0002437 MONDO:0016541 False dehydration polycythemia acquired secondary polycythemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0002438 MONDO:0005571 False acquired polycythemia polycythemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0002440 MONDO:0016541 False erythropoietin polycythemia acquired secondary polycythemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002442 MONDO:0002254 False long QT syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002441 MONDO:0019171 False Jervell and Lange-Nielsen syndrome familial long QT syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0002442 MONDO:0005453 False long QT syndrome congenital heart disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002444 MONDO:0002050 False melancholia depressive disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0002443 MONDO:0003406 False bruxism sleep-wake disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0002447 MONDO:0005213 False endometrial carcinoma uterine carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0002448 MONDO:0018078 False laryngeal sarcoma soft tissue sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0002449 MONDO:0001515 False nodular degeneration of cornea corneal degeneration UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0002451 MONDO:0004180 False benign prostate phyllodes tumor benign urinary system neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002453 MONDO:0002409 False retrocochlear disease auditory system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002457 MONDO:0000426 False Treacher-Collins syndrome autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002457 MONDO:0015161 False Treacher-Collins syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0002457 MONDO:0015483 False Treacher-Collins syndrome mandibulofacial dysostosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0002457 MONDO:0018751 False Treacher-Collins syndrome hereditary otorhinolaryngologic disease UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0002460 MONDO:0002236 False lacrimal system cancer ocular cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0002462 MONDO:0019722 False glomerulonephritis glomerular disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0002466 MONDO:0002038 False eye carcinoma head and neck carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002467 MONDO:0021205 False inner ear disorder disorder of ear UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0002468 MONDO:0002211 False hyperimmunoglobulin syndrome B cell deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002470 MONDO:0018053 False photosensitive trichothiodystrophy trichothiodystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0002470 MONDO:0021190 False photosensitive trichothiodystrophy DNA repair disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0002470 MONDO:0043459 False photosensitive trichothiodystrophy radiation-induced disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0002471 MONDO:0006816 False bursitis arthropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0002471 MONDO:0021166 False bursitis inflammatory disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0002471 MONDO:0056802 False bursitis synovial bursa disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0002472 MONDO:0002380 False carcinoma ex pleomorphic adenoma myoepithelial tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0002474 MONDO:0019214 False primary hyperoxaluria inborn carbohydrate metabolic disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002476 MONDO:0005240 False anuria kidney disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0002479 MONDO:0003125 False Sertoli-Leydig cell tumor testicular sex cord-stromal neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0002480 MONDO:0021148 False endometrioid tumor female reproductive system neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0002481 MONDO:0008170 False ovarian neuroendocrine neoplasm ovarian cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002481 MONDO:0021069 False ovarian neuroendocrine neoplasm malignant endocrine neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0002482 MONDO:0002051 False nipple neoplasm integumentary system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002486 MONDO:0004658 False lobular neoplasia breast carcinoma in situ UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002491 MONDO:0002494 False substance abuse substance-related disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0002492 MONDO:0020683 False acute kidney failure acute disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0002501 MONDO:0005499 False brain glioblastoma brain glioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002507 MONDO:0002021 False gingival overgrowth gingival disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0002508 MONDO:0004842 False gingivitis stomatitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002509 MONDO:0006882 False non-specific granulomatous orchitis orchitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002511 MONDO:0001854 False stenosis of lacrimal sac lacrimal apparatus disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002517 MONDO:0004855 False tenosynovitis of foot and ankle tenosynovitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002519 MONDO:0001593 False anus disorder rectal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0002520 MONDO:0005154 False hepatic porphyria liver disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0002520 MONDO:0037939 False hepatic porphyria porphyria UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0002522 MONDO:0021581 False tenosynovial giant cell tumor connective tissue neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0002522 MONDO:0024876 False tenosynovial giant cell tumor tendon sheath disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0002523 MONDO:0005093 False cutaneous mucinosis skin disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002526 MONDO:0003155 False dermal unilateral segmental cavernous angioma cavernous hemangioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0002528 MONDO:0006816 False synovium neoplasm arthropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0002528 MONDO:0056799 False synovium neoplasm synovium disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0002535 MONDO:0002363 False verrucous papilloma papilloma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0002540 MONDO:0006517 False childhood oligodendroglioma childhood malignant neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0002542 MONDO:0003544 False spinal cord glioma spinal cord cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002542 MONDO:0100342 False spinal cord glioma malignant glioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002544 MONDO:0005499 False brain oligodendroglioma brain glioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002546 MONDO:0016752 False schwannoma benign peripheral nerve sheath tumor UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0002546 MONDO:0021637 False schwannoma low grade glioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002547 MONDO:0001406 False nerve sheath neoplasm peripheral nervous system neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0002547 MONDO:0021042 False nerve sheath neoplasm glioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0002552 MONDO:0002545 False vascular myelopathy spinal cord disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002554 MONDO:0002366 False sympathetic neurilemmoma autonomic nervous system neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002558 MONDO:0002546 False melanotic neurilemmoma schwannoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0002562 MONDO:0005559 False demyelinating disease neurodegenerative disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0002562 MONDO:0021147 False demyelinating disease disorder of development or morphogenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0002565 MONDO:0002545 False myelitis spinal cord disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0002565 MONDO:0005156 False myelitis encephalomyelitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0002567 MONDO:0000270 False tracheal disorder lower respiratory tract disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002567 MONDO:0004867 False tracheal disorder upper respiratory tract disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002568 MONDO:0002567 False tracheal stenosis tracheal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002569 MONDO:0004298 False gastric dilatation stomach disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002570 MONDO:0002602 False high pressure neurological syndrome central nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002571 MONDO:0000621 False primary central nervous system lymphoma immune system cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0002571 MONDO:0004949 False primary central nervous system lymphoma neoplasm of mature B-cells UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002572 MONDO:0043905 False aspiration pneumonitis pneumonitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0002571 MONDO:0017343 False primary central nervous system lymphoma Epstein-Barr virus-associated malignant lymphoproliferative disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0002577 MONDO:0002849 False extrahepatic bile duct rhabdomyosarcoma liver rhabdomyosarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0002579 MONDO:0023603 False orbit embryonal rhabdomyosarcoma hereditary disorder of connective tissue UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0002581 MONDO:0002927 False spindle cell rhabdomyosarcoma spindle cell sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0002582 MONDO:0010643 False subacute leukemia acute leukemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002586 MONDO:0000621 False thymus cancer immune system cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002586 MONDO:0021069 False thymus cancer malignant endocrine neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002590 MONDO:0006456 False combined thymoma thymoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0002592 MONDO:0006451 False invasive malignant thymoma thymic carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0002592 MONDO:0040677 False invasive malignant thymoma invasive carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0002594 MONDO:0100329 False monkeypox primary viral infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0002595 MONDO:0005108 False vaccinia viral infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0002598 MONDO:0006290 False germinoma malignant germ cell tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0002610 MONDO:0002243 False purpura hemorrhagic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002612 MONDO:0005384 False frontal lobe epilepsy focal epilepsy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002614 MONDO:0005381 False bone inflammation disease bone disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002615 MONDO:0019245 False xanthomatosis lysosomal lipid storage disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0002625 MONDO:0023603 False Ewing sarcoma of bone hereditary disorder of connective tissue UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0002633 MONDO:0001406 False cranial nerve neoplasm peripheral nervous system neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0002633 MONDO:0005586 False cranial nerve neoplasm head and neck neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002635 MONDO:0006999 False periodontal disorder tooth disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002636 MONDO:0003620 False accessory nerve disorder peripheral nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002637 MONDO:0005833 False histiocytosis lymphatic system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002639 MONDO:0003620 False glossopharyngeal nerve disorder peripheral nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002641 MONDO:0000473 False subclavian artery aneurysm arterial disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002643 MONDO:0002467 False vestibular disorder inner ear disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0002643 MONDO:0019056 False vestibular disorder neuromuscular disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0002643 MONDO:0024417 False vestibular disorder perceptual disorders UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0002644 MONDO:0700007 False idiopathic granulomatous myositis idiopathic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0002645 MONDO:0005156 False cerebritis encephalomyelitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002646 MONDO:0004777 False viral laryngitis acute laryngitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0002646 MONDO:0024352 False viral laryngitis viral respiratory tract infection UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0002647 MONDO:0021166 False laryngitis inflammatory disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0002652 MONDO:0002169 False anus adenocarcinoma rectum adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002655 MONDO:0002656 False cutaneous Paget disease skin carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0002655 MONDO:0021165 False cutaneous Paget disease Paget disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0002657 MONDO:0700096 False breast disorder human disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0002660 MONDO:0003382 False blepharochalasis eyelid disorder UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0002669 MONDO:0002664 False ampullary signet ring cell adenocarcinoma extrahepatic bile duct signet ring cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0002670 MONDO:0002665 False ampulla of vater adenocarcinoma extrahepatic bile duct adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0002670 MONDO:0006186 False ampulla of vater adenocarcinoma duodenal adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002674 MONDO:0005240 False stricture or kinking of ureter kidney disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002675 MONDO:0016755 False neurofibrosarcoma neurofibroma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0002676 MONDO:0002677 False adult fibrosarcoma conventional fibrosarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002679 MONDO:0005394 False cerebral infarction brain infarction UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0002680 MONDO:0700108 False chronic wasting disease prion disease, non-human animal UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0002681 MONDO:0002095 False choroid plexus cancer vascular cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0002681 MONDO:0043218 False choroid plexus cancer neurovascular disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002687 MONDO:0002254 False superior mesenteric artery syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002682 MONDO:0001657 False cerebral ventricle cancer brain cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002687 MONDO:0002688 False superior mesenteric artery syndrome duodenal obstruction UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0002687 MONDO:0005561 False superior mesenteric artery syndrome aortic disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002688 MONDO:0002866 False duodenal obstruction duodenal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0002688 MONDO:0004565 False duodenal obstruction intestinal obstruction UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002691 MONDO:0021069 False liver cancer malignant endocrine neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002692 MONDO:0002907 False intracranial sinus thrombosis intracranial thrombosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002693 MONDO:0002692 False lateral sinus thrombosis intracranial sinus thrombosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002694 MONDO:0002692 False cavernous sinus thrombosis intracranial sinus thrombosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002695 MONDO:0002692 False sagittal sinus thrombosis intracranial sinus thrombosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0002697 MONDO:0018172 False ovarian gonadoblastoma malignant sex cord stromal tumor of ovary UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0002698 MONDO:0003125 False testicular gonadoblastoma testicular sex cord-stromal neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0002698 MONDO:0005447 False testicular gonadoblastoma testicular cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002706 MONDO:0005133 False cervix endometriosis endometriosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0002707 MONDO:0004953 False breast mucinous carcinoma invasive ductal breast carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0002708 MONDO:0006918 False retinitis posterior uveitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0002710 MONDO:0004075 False infiltrating angiolipoma infiltrating lipoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0002713 MONDO:0000812 False epidural spinal canal neoplasm vertebral column disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0002717 MONDO:0021506 False spinal cord intramedullary teratoma benign neoplasm of spinal cord UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0002718 MONDO:0019500 False central nervous system teratoma extragonadal teratoma UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0002722 MONDO:0021211 False olfactory nerve neoplasm brain neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0002727 MONDO:0003620 False olfactory nerve disorder peripheral nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0002727 MONDO:0005560 False olfactory nerve disorder brain disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002728 MONDO:0018078 False rhabdoid tumor soft tissue sarcoma UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0002729 MONDO:0002930 False rhabdoid tumor of the kidney kidney sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002732 MONDO:0000382 False lung benign neoplasm respiratory system benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0002734 MONDO:0002748 False anal mucinous adenocarcinoma rectum mucinous adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0002736 MONDO:0002739 False ampulla of vater mucinous adenocarcinoma extrahepatic bile duct mucinous adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002737 MONDO:0002738 False acute sanguinous otitis media acute transudative otitis media UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002738 MONDO:0001212 False acute transudative otitis media non-suppurative otitis media UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0002738 MONDO:0020683 False acute transudative otitis media acute disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0002740 MONDO:0002742 False uterine ligament mucinous adenocarcinoma cervical mucinous adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0002741 MONDO:0005153 False uterine ligament adenocarcinoma cervical adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002756 MONDO:0000621 False solitary plasmacytoma of chest wall immune system cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0002756 MONDO:0003985 False solitary plasmacytoma of chest wall chest wall lymphoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002757 MONDO:0002737 False acute allergic sanguinous otitis media acute sanguinous otitis media UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0002761 MONDO:0016285 False cervical verrucous carcinoma papillary carcinoma of the cervix uteri UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0002768 MONDO:0002145 False true hermaphroditism disorder of sexual differentiation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002769 MONDO:0002770 False leukorrhea vaginal discharge UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002770 MONDO:0001433 False vaginal discharge vaginal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002771 MONDO:0015925 False pulmonary fibrosis interstitial lung disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0002772 MONDO:0000642 False intraventricular meningioma brain meningioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0002772 MONDO:0021322 False intraventricular meningioma malignant tumor of meninges UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002776 MONDO:0021205 False external ear disorder disorder of ear UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0002775 MONDO:0005558 False anovulation ovarian disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002779 MONDO:0000628 False central nervous system chondroma central nervous system organ benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0002783 MONDO:0003159 False Shwartzman phenomenon vascular hemostatic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002783 MONDO:0018882 False Shwartzman phenomenon vasculitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002789 MONDO:0002604 False hemangiopericytic tumor pericytic neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0002790 MONDO:0021348 False seminal vesicle tumor neoplasm of testis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0002799 MONDO:0007959 False nodular medulloblastoma medulloblastoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002801 MONDO:0002802 False colonic pseudo-obstruction functional colonic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0002801 MONDO:0002803 False colonic pseudo-obstruction intestinal pseudo-obstruction UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0002802 MONDO:0003409 False functional colonic disease colonic disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0002803 MONDO:0004567 False intestinal pseudo-obstruction ileus UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0002806 MONDO:0001672 False bronchogenic carcinoma bronchus cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002807 MONDO:0001358 False bronchial neoplasm bronchial disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0002807 MONDO:0020641 False bronchial neoplasm respiratory tract neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0002811 MONDO:0001672 False main bronchus cancer bronchus cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0002812 MONDO:0002008 False infectious otitis interna labyrinthitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -19759,74 +12699,126 @@ MONDO:0002812 MONDO:0021669 False infectious otitis interna post-infectious diso MONDO:0002813 MONDO:0004992 False lipomatous cancer cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0002813 MONDO:0021354 False lipomatous cancer tumor of adipose tissue UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0002814 MONDO:0001502 False adrenal carcinoma retroperitoneum carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002814 MONDO:0002817 False adrenal carcinoma adrenal gland cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0002815 MONDO:0020683 False acute myocarditis acute disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0002816 MONDO:0005495 False adrenal cortex disorder adrenal gland disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002817 MONDO:0021069 False adrenal gland cancer malignant endocrine neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002821 MONDO:0005034 False trabecular follicular adenocarcinoma thyroid gland follicular carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002824 MONDO:0004994 False extrinsic cardiomyopathy cardiomyopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0002829 MONDO:0000653 False bartholin gland carcinoma integumentary system cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002839 MONDO:0045054 False leather-bottle stomach cancer-related condition UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002840 MONDO:0016129 False eosinophilic gastritis eosinophilic gastroenteritis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002842 MONDO:0043424 False bacterial gastritis digestive system infectious disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0002839 MONDO:0004298 False leather-bottle stomach stomach disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002842 MONDO:0005113 False bacterial gastritis bacterial infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002843 MONDO:0002041 False fungal gastritis fungal infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0002843 MONDO:0043424 False fungal gastritis digestive system infectious disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0002848 MONDO:0020120 False skeletal muscle neoplasm skeletal muscle disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0002855 MONDO:0005872 False ectomesenchymoma nervous system cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0002862 MONDO:0002397 False bile duct sarcoma liver sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002862 MONDO:0003059 False bile duct sarcoma bile duct cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0002864 MONDO:0002853 False anus rhabdomyosarcoma rectum rhabdomyosarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0002865 MONDO:0002168 False anus sarcoma rectum sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0002866 MONDO:0024635 False duodenal disorder small intestine disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0002870 MONDO:0020674 False tricuspid valve insufficiency vascular insufficiency disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002871 MONDO:0002874 False testicular trophoblastic tumor testicular pure germ cell tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0002875 MONDO:0024610 False parasitic ectoparasitic infectious disease parasitic skin disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0002876 MONDO:0016277 False cervical adenosarcoma malignant mixed epithelial and mesenchymal tumor of cervix uteri UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0002877 MONDO:0016277 False cervical carcinosarcoma malignant mixed epithelial and mesenchymal tumor of cervix uteri UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0002879 MONDO:0006003 False uterine body mixed cancer uterine corpus cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002884 MONDO:0002051 False nail disorder integumentary system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002885 MONDO:0002922 False erythrasma pyoderma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002886 MONDO:0002887 False common bile duct disorder bile duct disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002887 MONDO:0004868 False bile duct disorder biliary tract disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0002889 MONDO:0002132 False orbital cancer skull cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0002892 MONDO:0002132 False skull base chordoma skull cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002898 MONDO:0000653 False skin cancer integumentary system cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0002900 MONDO:0003142 False cerebral neuroblastoma intracranial primitive neuroectodermal tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002903 MONDO:0004750 False articulation disorder language disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002901 MONDO:0005570 False blood group incompatibility hematologic disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002903 MONDO:0004730 False articulation disorder speech disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002904 MONDO:0004730 False echolalia speech disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002905 MONDO:0004730 False mutism speech disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002907 MONDO:0000831 False intracranial thrombosis thrombotic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002907 MONDO:0011057 False intracranial thrombosis cerebrovascular disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002909 MONDO:0002908 False hyperglycemia glucose metabolism disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002910 MONDO:0001397 False peroneal neuropathy mononeuropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002911 MONDO:0002912 False brain stem glioma brainstem cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0002911 MONDO:0005499 False brain stem glioma brain glioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002913 MONDO:0002427 False cerebellar neoplasm cerebellar disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002914 MONDO:0002912 False childhood brain stem neoplasm brainstem cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0002914 MONDO:0006517 False childhood brain stem neoplasm childhood malignant neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002919 MONDO:0024653 False posterior cranial fossa meningioma skull neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0002917 MONDO:0002051 False disorder of pilosebaceous unit integumentary system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002919 MONDO:0005172 False posterior cranial fossa meningioma skeletal system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0002921 MONDO:0019952 False congenital structural myopathy congenital myopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002922 MONDO:0005093 False pyoderma skin disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0002927 MONDO:0020663 False spindle cell sarcoma malignant spindle cell neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0002929 MONDO:0005275 False pulmonary immaturity lung disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002931 MONDO:0006170 False conjunctivochalasis conjunctival disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002933 MONDO:0000833 False osteosclerosis bone remodeling disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0002934 MONDO:0000629 False intravascular angioleiomyoma cardiovascular organ benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0002934 MONDO:0024296 False intravascular angioleiomyoma vascular neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0002935 MONDO:0018352 False penis basal cell carcinoma squamous cell carcinoma of penis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0002936 MONDO:0001651 False scrotum basal cell carcinoma scrotum squamous cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0002940 MONDO:0001470 False anal margin basal cell carcinoma anal margin squamous cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002942 MONDO:0005341 False sebaceous basal cell carcinoma skin basal cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0002943 MONDO:0003501 False external ear basal cell carcinoma external ear squamous cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002946 MONDO:0002263 False gynatresia female reproductive system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0002955 MONDO:0024609 False vulva basal cell carcinoma vulvar squamous cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0002957 MONDO:0021663 False sarcomatoid basal cell carcinoma sarcomatoid squamous cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0002959 MONDO:0003620 False radiculopathy peripheral nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0002960 MONDO:0006915 False polyradiculopathy polyradiculoneuropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0002965 MONDO:0024652 False parovarian cyst embryonic cyst of fallopian tube UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0002966 MONDO:0004699 False splenic manifestation of prolymphocytic leukemia gastrointestinal lymphoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002968 MONDO:0005833 False lymphocele lymphatic system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002969 MONDO:0002658 False ciliary body cancer iris cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002970 MONDO:0002289 False ciliary body disorder iris disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002972 MONDO:0005843 False posterior mediastinum cancer mediastinal cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002976 MONDO:0004298 False stomach diverticulosis stomach disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002984 MONDO:0002637 False reticulohistiocytic granuloma histiocytosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0002996 MONDO:0004634 False cavernous sinus meningioma vein disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0002996 MONDO:0021080 False cavernous sinus meningioma blood vessel neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0002996 MONDO:0024499 False cavernous sinus meningioma vascular bone neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0002996 MONDO:0043218 False cavernous sinus meningioma neurovascular disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002997 MONDO:0024653 False anterior cranial fossa meningioma skull neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0002997 MONDO:0005172 False anterior cranial fossa meningioma skeletal system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0002999 MONDO:0015935 False central nervous system germinoma extragonadal germinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0003002 MONDO:0006290 False dysgerminoma malignant germ cell tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0003002 MONDO:0020580 False dysgerminoma germinomatous germ cell tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0003003 MONDO:0016280 False cervical alveolar soft part sarcoma sarcoma of cervix uteri UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0003005 MONDO:0003004 False macular retinal edema macular degeneration UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003005 MONDO:0004037 False macular retinal edema retinal edema UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003008 MONDO:0100191 False hereditary renal cell carcinoma inherited kidney disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0003009 MONDO:0006640 False hyperaldosteronism adrenal gland hyperfunction UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003010 MONDO:0005005 False multilocular clear cell renal cell carcinoma clear cell renal carcinoma UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003011 MONDO:0005086 False mucinous tubular and spindle renal cell carcinoma renal cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003011 MONDO:0021568 False mucinous tubular and spindle renal cell carcinoma renal tubule disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0003014 MONDO:0020579 False rhinitis mucositis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0003017 MONDO:0002087 False malignant peritoneal solitary fibrous tumor peritoneum cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003017 MONDO:0037737 False malignant peritoneal solitary fibrous tumor peritoneal solitary fibrous tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0003019 MONDO:0000226 False potassium deficiency disease mineral metabolism disease UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003019 MONDO:0005137 False potassium deficiency disease nutritional disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003021 MONDO:0043218 False central nervous system angiosarcoma neurovascular disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0003023 MONDO:0004539 False aorta angiosarcoma aortic malignant tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003030 MONDO:0003031 False endometrioid stromal sarcoma of the cervix endometrioid stromal and related neoplasms of the cervix UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003030 MONDO:0006745 False endometrioid stromal sarcoma of the cervix endometrioid stromal sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003030 MONDO:0016280 False endometrioid stromal sarcoma of the cervix sarcoma of cervix uteri UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0003032 MONDO:0004634 False superior vena cava angiosarcoma vein disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003032 MONDO:0040676 False superior vena cava angiosarcoma great vessel cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0003036 MONDO:0004957 False mucoepidermoid carcinoma mucinous adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003036 MONDO:0006720 False mucoepidermoid carcinoma cystic, mucinous, and serous neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0003037 MONDO:0003847 False hypotrichosis hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003038 MONDO:0000599 False dysgraphia writing disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003039 MONDO:0000598 False nominal aphasia aphasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003040 MONDO:0001152 False retrograde amnesia amnestic disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003045 MONDO:0003046 False anal gland neoplasm anus neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003046 MONDO:0002165 False anus neoplasm rectal neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003051 MONDO:0024279 False non specific chronic endometritis chronic endometritis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003052 MONDO:0024279 False granulomatous endometritis chronic endometritis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0003053 MONDO:0002681 False choroid plexus meningioma choroid plexus cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003053 MONDO:0002772 False choroid plexus meningioma intraventricular meningioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003059 MONDO:0003060 False bile duct cancer biliary tract cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003059 MONDO:0021662 False bile duct cancer bile duct neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0003060 MONDO:0002691 False biliary tract cancer liver cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003060 MONDO:0005304 False biliary tract cancer biliary tract neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003061 MONDO:0000636 False benign muscle neoplasm musculoskeletal system benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003066 MONDO:0001597 False submandibular adenitis submandibular gland disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003066 MONDO:0003067 False submandibular adenitis cervical lymphadenitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003066 MONDO:0006969 False submandibular adenitis sialadenitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003082 MONDO:0003085 False filamentary keratitis keratitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003083 MONDO:0024239 False venous hemangioma congenital anomaly of cardiovascular system UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003084 MONDO:0005244 False uremic neuropathy peripheral neuropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003084 MONDO:0007008 False uremic neuropathy uremia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003085 MONDO:0021166 False keratitis inflammatory disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0003086 MONDO:0003209 False thymic mucoepidermoid carcinoma thymus gland adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003087 MONDO:0004988 False mucoepidermoid breast carcinoma breast adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS @@ -19835,60 +12827,97 @@ MONDO:0003092 MONDO:0002475 False lacrimal gland mucoepidermoid carcinoma lacrim MONDO:0003093 MONDO:0005028 False mucoepidermoid esophageal carcinoma esophageal adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003098 MONDO:0001406 False mediastinal neural neoplasm peripheral nervous system neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003100 MONDO:0024432 False nerve plexus neoplasm nerve plexus disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003103 MONDO:0001406 False nerve root neoplasm peripheral nervous system neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003104 MONDO:0001322 False epicardium cancer pericardium cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003110 MONDO:0024666 False skin hemangioma benign epithelial skin neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003118 MONDO:0021348 False testicular Brenner tumor neoplasm of testis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003121 MONDO:0024653 False middle cranial fossa meningioma skull neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0003121 MONDO:0005172 False middle cranial fossa meningioma skeletal system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0003128 MONDO:0005933 False classic pulmonary blastoma pulmonary blastoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003129 MONDO:0005933 False epithelial predominant pulmonary blastoma pulmonary blastoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003130 MONDO:0002367 False mesoblastic nephroma kidney cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003136 MONDO:0002462 False anti-basement membrane glomerulonephritis glomerulonephritis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003138 MONDO:0020683 False subacute glomerulonephritis acute disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0003143 MONDO:0003110 False angiokeratoma skin hemangioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003144 MONDO:0016713 False medulloepithelioma central nervous system Ewing sarcoma/peripheral primitive neuroectodermal tumor UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0003147 MONDO:0008015 False space motion sickness motion sickness UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003154 MONDO:0003241 False hemangioma of peripheral nerve central nervous system hemangioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003154 MONDO:0056804 False hemangioma of peripheral nerve benign neoplasm of peripheral nervous system UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003155 MONDO:0002334 False cavernous hemangioma hematopoietic and lymphoid system neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003155 MONDO:0003159 False cavernous hemangioma vascular hemostatic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003157 MONDO:0002254 False disappearing bone disease syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003159 MONDO:0002243 False vascular hemostatic disease hemorrhagic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003159 MONDO:0005385 False vascular hemostatic disease vascular disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003168 MONDO:0000638 False cerebellar pilocytic astrocytoma benign glioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0003169 MONDO:0002786 False diencephalic astrocytomas diencephalic cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003169 MONDO:0005499 False diencephalic astrocytomas brain glioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003171 MONDO:0003169 False pineal gland astrocytoma diencephalic astrocytomas UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003171 MONDO:0003249 False pineal gland astrocytoma pineal gland cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003177 MONDO:0005082 False prostate adenoid cystic carcinoma prostate adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003181 MONDO:0005061 False lung adenoid cystic carcinoma lung adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003182 MONDO:0002545 False anterior horn disorder spinal cord disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003185 MONDO:0004988 False adenoid cystic breast carcinoma breast adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003186 MONDO:0005028 False esophageal adenoid cystic carcinoma esophageal adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003187 MONDO:0003853 False Bartholin gland adenoid cystic carcinoma Bartholin gland adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003191 MONDO:0002752 False rete ovarii adenocarcinoma ovarian adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003192 MONDO:0021068 False rete ovarii neoplasm ovarian neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0003194 MONDO:0002732 False hemangioma of lung lung benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003194 MONDO:0006500 False hemangioma of lung hemangioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003195 MONDO:0002113 False peritoneal serous adenocarcinoma peritoneal carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003195 MONDO:0005278 False peritoneal serous adenocarcinoma serous adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003196 MONDO:0006029 False appendix carcinoma cecum carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003196 MONDO:0018511 False appendix carcinoma epithelial tumor of the appendix UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0003197 MONDO:0003252 False granular cell carcinoma granular cell cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003199 MONDO:0044937 False anal carcinoma rectal carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0003202 MONDO:0017582 False pituitary gland basophilic carcinoma pituitary adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003205 MONDO:0005086 False renal pelvis adenocarcinoma renal cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003208 MONDO:0004953 False breast secretory carcinoma invasive ductal breast carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003210 MONDO:0001487 False intrahepatic cholangiocarcinoma intrahepatic bile duct cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003222 MONDO:0002714 False central nervous system melanocytic neoplasm central nervous system cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003223 MONDO:0005094 False meninges hemangiopericytoma hemangiopericytoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003223 MONDO:0021322 False meninges hemangiopericytoma malignant tumor of meninges UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0003225 MONDO:0005046 False bone marrow disorder immune system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003225 MONDO:0005172 False bone marrow disorder skeletal system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0003225 MONDO:0005570 False bone marrow disorder hematologic disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003227 MONDO:0005638 False prosopagnosia agnosia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003231 MONDO:0017373 False acute nonparalytic poliomyelitis poliomyelitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003232 MONDO:0004982 False alcoholic pancreatitis pancreatitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003232 MONDO:0021699 False alcoholic pancreatitis alcohol-induced disorders UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0003233 MONDO:0003847 False essential tremor hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003233 MONDO:0005395 False essential tremor movement disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003234 MONDO:0002433 False optic nerve astrocytoma malignant cranial nerve neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003240 MONDO:0005151 False thyroid gland disorder endocrine system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003241 MONDO:0000628 False central nervous system hemangioma central nervous system organ benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003241 MONDO:0043218 False central nervous system hemangioma neurovascular disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0003249 MONDO:0003766 False pineal gland cancer thalamic cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003249 MONDO:0021069 False pineal gland cancer malignant endocrine neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003250 MONDO:0000638 False benign granular cell tumor benign glioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0003250 MONDO:0056804 False benign granular cell tumor benign neoplasm of peripheral nervous system UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003252 MONDO:0100342 False granular cell cancer malignant glioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003254 MONDO:0003250 False cardiac granular cell neoplasm benign granular cell tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003254 MONDO:0021508 False cardiac granular cell neoplasm benign neoplasm of epicardium UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0003257 MONDO:0100070 False posterior pituitary gland neoplasm neuroendocrine disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0003261 MONDO:0000642 False papillary meningioma of the cerebellum brain meningioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003265 MONDO:0005084 False adjustment disorder mental disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0003271 MONDO:0005420 False iodine hypothyroidism hypothyroidism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003272 MONDO:0021043 False mixed epithelial stromal tumor mixed neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003276 MONDO:0021205 False middle ear disorder disorder of ear UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0003273 MONDO:0002129 False sternum cancer bone cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003275 MONDO:0004532 False middle ear cancer auditory system cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003277 MONDO:0000649 False malignant ear neoplasm sensory system cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003278 MONDO:0003277 False inner ear cancer malignant ear neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003278 MONDO:0004532 False inner ear cancer auditory system cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003278 MONDO:0024320 False inner ear cancer inner ear neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0003280 MONDO:0024985 False swayback sheep disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0003280 MONDO:0700103 False swayback nutritional deficiency disease, non-human animal UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0003282 MONDO:0005558 False ovarian cyst ovarian disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003286 MONDO:0004723 False extrahepatic bile duct leiomyoma liver leiomyoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003287 MONDO:0000628 False central nervous system leiomyoma central nervous system organ benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003290 MONDO:0005384 False simple partial epilepsy focal epilepsy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003292 MONDO:0004125 False anus leiomyoma rectum leiomyoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003300 MONDO:0001092 False appendix leiomyoma colon leiomyoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003301 MONDO:0021581 False dartoic leiomyoma connective tissue neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0003303 MONDO:0005411 False neurofibroma of gallbladder gallbladder cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003303 MONDO:0021089 False neurofibroma of gallbladder peripheral nervous system cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0003303 MONDO:0100342 False neurofibroma of gallbladder malignant glioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003308 MONDO:0005065 False pleural mesothelioma mesothelioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0003311 MONDO:0021251 False endometrial stromal tumor endometrium neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0003313 MONDO:0002140 False endometrioid stromal sarcoma of the vagina vagina sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003313 MONDO:0003314 False endometrioid stromal sarcoma of the vagina endometrioid stromal and related neoplasms of the vagina UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003313 MONDO:0006745 False endometrioid stromal sarcoma of the vagina endometrioid stromal sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003315 MONDO:0002447 False endometrium carcinoma in situ endometrial carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS @@ -19897,28 +12926,37 @@ MONDO:0003319 MONDO:0024582 False scrotum neoplasm male reproductive system neop MONDO:0003319 MONDO:0045003 False scrotum neoplasm scrotal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0003321 MONDO:0100191 False hereditary Wilms tumor inherited kidney disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0003328 MONDO:0002373 False fallopian tube adenomatoid tumor benign mesothelioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003329 MONDO:0001926 False ureteral obstruction ureteral disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003329 MONDO:0003330 False ureteral obstruction urinary tract obstruction UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003332 MONDO:0018369 False malignant struma ovarii immature ovarian teratoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003333 MONDO:0000646 False benign struma ovarii ovarian benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003333 MONDO:0006980 False benign struma ovarii struma ovarii UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003334 MONDO:0002562 False demyelinating polyneuropathy demyelinating disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003336 MONDO:0006009 False acute necrotizing encephalitis viral encephalitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003337 MONDO:0006009 False acute hemorrhagic encephalitis viral encephalitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003341 MONDO:0017588 False subungual glomus tumor nail tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0003343 MONDO:0002311 False retinal hemangioblastoma retinal vascular disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003343 MONDO:0021541 False retinal hemangioblastoma hemangioma of retina UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0003345 MONDO:0003210 False hilar cholangiocarcinoma intrahepatic cholangiocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003346 MONDO:0002602 False central nervous system vasculitis central nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003346 MONDO:0043218 False central nervous system vasculitis neurovascular disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0003350 MONDO:0003252 False granular cell leiomyosarcoma granular cell cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003350 MONDO:0003349 False granular cell leiomyosarcoma central nervous system leiomyosarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003358 MONDO:0003379 False anus leiomyosarcoma rectum leiomyosarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003360 MONDO:0018506 False small intestine leiomyosarcoma mesenchymal tumor of small intestine UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0003362 MONDO:0005058 False cutaneous leiomyosarcoma leiomyosarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003362 MONDO:0006414 False cutaneous leiomyosarcoma skin sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003366 MONDO:0006816 False hydrarthrosis arthropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003377 MONDO:0003090 False extrahepatic bile duct leiomyosarcoma extrahepatic bile duct carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003377 MONDO:0003378 False extrahepatic bile duct leiomyosarcoma liver leiomyosarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003381 MONDO:0005151 False pituitary gland disorder endocrine system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003381 MONDO:0005560 False pituitary gland disorder brain disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003382 MONDO:0000462 False eyelid disorder eye adnexa disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003382 MONDO:0005328 False eyelid disorder eye disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003384 MONDO:0006135 False uterine ligament clear cell adenocarcinoma cervical clear cell adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003388 MONDO:0004081 False ampulla of vater clear cell adenocarcinoma extrahepatic bile duct clear cell adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003393 MONDO:0005046 False thymus gland disorder immune system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003393 MONDO:0005151 False thymus gland disorder endocrine system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003393 MONDO:0005570 False thymus gland disorder hematologic disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003396 MONDO:0005079 False epulis polyp UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0003396 MONDO:0002507 False epulis gingival overgrowth UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003397 MONDO:0002507 False gingival hypertrophy gingival overgrowth UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003398 MONDO:0001152 False anterograde amnesia amnestic disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003399 MONDO:0003401 False pineal region yolk sac tumor central nervous system endodermal sinus tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003406 MONDO:0100081 False sleep-wake disorder sleep disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0003409 MONDO:0024634 False colonic disorder large intestine disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -19926,35 +12964,52 @@ MONDO:0003410 MONDO:0005086 False Wolffian duct adenocarcinoma renal cell carcin MONDO:0003410 MONDO:0024888 False Wolffian duct adenocarcinoma mesonephric neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0003411 MONDO:0021100 False breast hemangiopericytoma breast neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0003412 MONDO:0024645 False retroperitoneal hemangiopericytoma retroperitoneal neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0003417 MONDO:0003425 False internuclear ophthalmoplegia ophthalmoplegia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003417 MONDO:0003432 False internuclear ophthalmoplegia strabismus UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003419 MONDO:0002193 False Bartholin gland adenoma Bartholin gland benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003420 MONDO:0002369 False bile duct cystadenoma cystadenoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003420 MONDO:0006108 False bile duct cystadenoma bile duct adenoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003425 MONDO:0001584 False ophthalmoplegia ocular motility disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003425 MONDO:0006496 False ophthalmoplegia palsy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0003427 MONDO:0002807 False bronchus adenoma bronchial neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003429 MONDO:0003604 False functioning pituitary gland adenoma functioning pituitary gland neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003430 MONDO:0017611 False prolactin producing pituitary tumor pituitary tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0003432 MONDO:0001584 False strabismus ocular motility disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003439 MONDO:0000502 False urinary bladder villous adenoma villous adenoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003446 MONDO:0002805 False papillary hidradenoma hidradenoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003450 MONDO:0002090 False eccrine papillary adenoma eccrine sweat gland neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003450 MONDO:0002533 False eccrine papillary adenoma papillary adenoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003450 MONDO:0021110 False eccrine papillary adenoma sweat gland adenoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0003452 MONDO:0002467 False cochlear disorder inner ear disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003452 MONDO:0024654 False cochlear disorder skull disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0003455 MONDO:0000385 False bile duct papillary neoplasm benign digestive system neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003455 MONDO:0000627 False bile duct papillary neoplasm benign endocrine neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003455 MONDO:0002060 False bile duct papillary neoplasm intraductal papilloma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003465 MONDO:0010434 False fibrous synovial sarcoma synovial sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003466 MONDO:0002927 False spindle cell synovial sarcoma spindle cell sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003471 MONDO:0003472 False Pediculus humanus capitis infestation lice infestation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003473 MONDO:0021546 False spinal cord ependymoma ependymal tumor of spinal cord UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0003477 MONDO:0004245 False brain stem ependymoma ependymal tumor of brain UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003479 MONDO:0043905 False toxic pneumonitis pneumonitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0003480 MONDO:0002073 False pineal region dysgerminoma malignant pineal area germ cell neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003480 MONDO:0003002 False pineal region dysgerminoma dysgerminoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003481 MONDO:0003002 False dysgerminoma of ovary dysgerminoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003482 MONDO:0003472 False Pediculus humanus corporis infestation lice infestation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003490 MONDO:0006203 False ampulla of vater squamous cell carcinoma extrahepatic bile duct squamous cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0003490 MONDO:0018509 False ampulla of vater squamous cell carcinoma squamous cell carcinoma of the small intestine UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0003492 MONDO:0002463 False lacrimal gland squamous cell carcinoma lacrimal gland carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003492 MONDO:0010150 False lacrimal gland squamous cell carcinoma head and neck squamous cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003494 MONDO:0003495 False ovarian squamous cell carcinoma ovarian squamous cell neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003495 MONDO:0002229 False ovarian squamous cell neoplasm ovarian epithelial tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003495 MONDO:0002532 False ovarian squamous cell neoplasm squamous cell neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0003499 MONDO:0005056 False sarcomatoid squamous cell skin carcinoma keratinizing squamous cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003500 MONDO:0005496 False squamous cell bile duct carcinoma bile duct carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003500 MONDO:0018534 False squamous cell bile duct carcinoma squamous cell carcinoma of liver and intrahepatic biliary tract UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0003504 MONDO:0002120 False anal canal neuroendocrine neoplasm neuroendocrine carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003504 MONDO:0003646 False anal canal neuroendocrine neoplasm rectum neuroendocrine neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003504 MONDO:0007108 False anal canal neuroendocrine neoplasm anal canal carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003505 MONDO:0000952 False femoral cancer cancer of long bone of lower limb UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003505 MONDO:0021579 False femoral cancer neoplasm of femur UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0003506 MONDO:0000473 False pulmonary artery choriocarcinoma arterial disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003507 MONDO:0018171 False choriocarcinoma of ovary malignant germ cell tumor of ovary UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003518 MONDO:0020539 False mediastinum teratoma extragonadal non-dysgerminomatous germ cell tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0003519 MONDO:0002191 False malignant syringoma syringoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003528 MONDO:0020120 False Volkmann contracture skeletal muscle disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -19962,8 +13017,14 @@ MONDO:0003529 MONDO:0020683 False acute pyelonephritis acute disease UNSUPPORTED MONDO:0003530 MONDO:0044789 False aggressive digital papillary adenocarcinoma digital papillary eccrine carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0003532 MONDO:0005590 False breast papillary carcinoma breast ductal adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003535 MONDO:0002512 False fallopian tube papillary adenocarcinoma papillary adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003535 MONDO:0002746 False fallopian tube papillary adenocarcinoma fallopian tube adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003539 MONDO:0003540 False T-cell adult acute lymphocytic leukemia acute T cell leukemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003540 MONDO:0004967 False acute T cell leukemia acute lymphoblastic leukemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003540 MONDO:0005525 False acute T cell leukemia T-cell leukemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0003542 MONDO:0003394 False dental pulp calcification dental pulp disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003543 MONDO:0003620 False trigeminal nerve disorder peripheral nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003545 MONDO:0002713 False intradural extramedullary spinal canal neoplasm epidural spinal canal neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003546 MONDO:0003620 False third cranial nerve disorder peripheral nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003548 MONDO:0006056 False adenosquamous breast carcinoma squamous cell breast carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003549 MONDO:0003500 False adenosquamous bile duct carcinoma squamous cell bile duct carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003549 MONDO:0056815 False adenosquamous bile duct carcinoma liver adenosquamous carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -19977,11 +13038,16 @@ MONDO:0003556 MONDO:0006198 False endometrial adenosquamous carcinoma endometria MONDO:0003558 MONDO:0000993 False adenosquamous prostate carcinoma prostate squamous cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003562 MONDO:0021348 False rete testis neoplasm neoplasm of testis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0003565 MONDO:0000502 False urethral villous adenoma villous adenoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003567 MONDO:0002467 False bilateral hypoactive labyrinth inner ear disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003568 MONDO:0005560 False disorder of optic chiasm brain disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003574 MONDO:0004532 False external ear cancer auditory system cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003578 MONDO:0020539 False extragonadal nonseminomatous germ cell tumor extragonadal non-dysgerminomatous germ cell tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003582 MONDO:0015356 False hereditary breast ovarian cancer syndrome hereditary neoplastic syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003582 MONDO:0020573 False hereditary breast ovarian cancer syndrome inherited disease susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0003579 MONDO:0001834 False retinal nerve fiber layer disorder visual pathway disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003579 MONDO:0005283 False retinal nerve fiber layer disorder retinal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003582 MONDO:0000426 False hereditary breast ovarian cancer syndrome autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003584 MONDO:0001834 False visual cortex disorder visual pathway disorder UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003584 MONDO:0044996 False visual cortex disorder cerebral cortex disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0003590 MONDO:0005060 False fibroblastic liposarcoma liposarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003595 MONDO:0005103 False sclerosing liposarcoma well-differentiated liposarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0003596 MONDO:0002927 False spindle cell liposarcoma spindle cell sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003596 MONDO:0005103 False spindle cell liposarcoma well-differentiated liposarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -19991,129 +13057,193 @@ MONDO:0003603 MONDO:0021119 False non-functioning pituitary gland neoplasm non-f MONDO:0003604 MONDO:0017611 False functioning pituitary gland neoplasm pituitary tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0003604 MONDO:0021120 False functioning pituitary gland neoplasm functioning endocrine neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0003607 MONDO:0002122 False neuritis of upper limb neuritis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003608 MONDO:0002135 False optic atrophy optic nerve disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003610 MONDO:0004005 False rete ovarii cystadenoma rete ovarii adenoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003610 MONDO:0005183 False rete ovarii cystadenoma ovarian cystadenoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003612 MONDO:0000637 False uterine ligament cancer musculoskeletal system cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003612 MONDO:0002974 False uterine ligament cancer cervical cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003615 MONDO:0005244 False nerve compression syndrome peripheral neuropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003619 MONDO:0000922 False salpingitis pelvic inflammatory disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003616 MONDO:0003617 False salpingitis isthmica nodosa chronic salpingitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003618 MONDO:0003619 False pyosalpinx salpingitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003624 MONDO:0004953 False acinic cell breast carcinoma invasive ductal breast carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003626 MONDO:0002741 False uterine ligament serous adenocarcinoma uterine ligament adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003626 MONDO:0003631 False uterine ligament serous adenocarcinoma cervical serous adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003627 MONDO:0000603 False rheumatic pulmonary valve disease autoimmune disorder of cardiovascular system UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003627 MONDO:0003628 False rheumatic pulmonary valve disease pulmonary valve disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003627 MONDO:0005554 False rheumatic pulmonary valve disease rheumatic disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003629 MONDO:0005213 False uterine corpus serous adenocarcinoma uterine carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0003629 MONDO:0005278 False uterine corpus serous adenocarcinoma serous adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003629 MONDO:0006003 False uterine corpus serous adenocarcinoma uterine corpus cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003632 MONDO:0021166 False endocervicitis inflammatory disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0003633 MONDO:0004992 False malignant mesenchymoma cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003634 MONDO:0005240 False proteinuria kidney disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003638 MONDO:0008903 False lung meningioma lung cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003638 MONDO:0021322 False lung meningioma malignant tumor of meninges UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003640 MONDO:0005236 False verruciform xanthoma of skin xanthoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0003644 MONDO:0024479 False cavernous hemangioma of colon epithelial tumor of colon UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0003645 MONDO:0005586 False cavernous hemangioma of face head and neck neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0003646 MONDO:0024476 False rectum neuroendocrine neoplasm epithelial neoplasm of rectum UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0003647 MONDO:0003648 False atrophic flaccid tympanic membrane tympanic membrane disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003648 MONDO:0003276 False tympanic membrane disorder middle ear disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003652 MONDO:0020683 False acute urate nephropathy acute disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0003653 MONDO:0016231 False stork bite capillary malformation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0003656 MONDO:0003634 False hemoglobinuria proteinuria UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003663 MONDO:0003665 False uterine ligament endometrioid adenocarcinoma cervical endometrioid adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003670 MONDO:0005068 False posteroinferior myocardial infarction myocardial infarction UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003671 MONDO:0003939 False septal myocardial infarction muscle tissue disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003671 MONDO:0005068 False septal myocardial infarction myocardial infarction UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003672 MONDO:0005068 False posterior myocardial infarction myocardial infarction UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003673 MONDO:0005068 False apical myocardial infarction myocardial infarction UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003674 MONDO:0005068 False subendocardial myocardial infarction myocardial infarction UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003675 MONDO:0005068 False posterolateral myocardial infarction myocardial infarction UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003676 MONDO:0005068 False inferolateral myocardial infarct myocardial infarction UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003677 MONDO:0005068 False lateral myocardial infarction myocardial infarction UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003679 MONDO:0005068 False anteroseptal myocardial infarction myocardial infarction UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003680 MONDO:0000515 False periosteal chondrosarcoma bone chondrosarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003681 MONDO:0008977 False myxoid chondrosarcoma chondrosarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003684 MONDO:0000515 False clear cell chondrosarcoma bone chondrosarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003686 MONDO:0024467 False apocrine sweat gland neoplasm apocrine sweat gland disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003688 MONDO:0005065 False well differentiated papillary mesothelioma mesothelioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0003689 MONDO:0003847 False familial hemolytic anemia hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003691 MONDO:0006517 False childhood malignant mesenchymoma childhood malignant neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0003697 MONDO:0003698 False non-invasive verrucous carcinoma of the penis penis verrucous carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003700 MONDO:0006683 False brachial plexus neoplasm brachial plexus neuropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003708 MONDO:0002665 False extrahepatic bile duct small cell adenocarcinoma extrahepatic bile duct adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003708 MONDO:0015072 False extrahepatic bile duct small cell adenocarcinoma liver neuroendocrine carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003713 MONDO:0003143 False angiokeratoma circumscriptum angiokeratoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003718 MONDO:0011057 False occlusion precerebral artery cerebrovascular disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003722 MONDO:0024320 False internal auditory canal meningioma inner ear neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003723 MONDO:0003724 False blunt duct adenosis of breast non-proliferative fibrocystic change of the breast UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003723 MONDO:0003725 False blunt duct adenosis of breast breast adenosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003726 MONDO:0003725 False apocrine adenosis of breast breast adenosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003736 MONDO:0000600 False cancerophobia nosophobia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003737 MONDO:0005447 False malignant testicular Leydig cell tumor testicular cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0003738 MONDO:0001342 False selective IgE deficiency disease dysgammaglobulinemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003740 MONDO:0000600 False AIDS phobia nosophobia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003743 MONDO:0021209 False heart malignant hemangiopericytoma heart neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0003744 MONDO:0020663 False spindle cell intraocular melanoma malignant spindle cell neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0003746 MONDO:0004188 False ciliary body spindle cell melanoma iris spindle cell melanoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003749 MONDO:0044991 False esophageal disorder upper digestive tract disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003754 MONDO:0002254 False Brown-Sequard syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003754 MONDO:0003757 False Brown-Sequard syndrome paraplegia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003757 MONDO:0006496 False paraplegia palsy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0003762 MONDO:0016642 False malignant leptomeningeal tumor meningioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003763 MONDO:0020683 False acute stress disorder acute disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0003764 MONDO:0003057 False pediatric leptomeningeal melanoma pediatric meningioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003764 MONDO:0042494 False pediatric leptomeningeal melanoma childhood malignant melanoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0003766 MONDO:0003081 False thalamic cancer thalamic disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003769 MONDO:0005794 False herpetic gastritis Herpesviridae infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0003771 MONDO:0024653 False jugular foramen meningioma skull neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0003772 MONDO:0000642 False cerebral meningioma brain meningioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003772 MONDO:0002731 False cerebral meningioma cerebral hemisphere cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003772 MONDO:0021322 False cerebral meningioma malignant tumor of meninges UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0003778 MONDO:0009453 False inborn error of immunity immune deficiency disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003780 MONDO:0021094 False T-cell immunodeficiency immunodeficiency disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0003781 MONDO:0001358 False bronchitis bronchial disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003781 MONDO:0021925 False bronchitis tracheobronchitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0003783 MONDO:0003785 False lymphopenia leukopenia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003784 MONDO:0004647 False nasal cavity carcinoma in situ in situ carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003785 MONDO:0004805 False leukopenia leukocyte disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003792 MONDO:0005140 False ovarian carcinosarcoma ovarian carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003795 MONDO:0000402 False ovarian small cell carcinoma small cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003795 MONDO:0002481 False ovarian small cell carcinoma ovarian neuroendocrine neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003799 MONDO:0021166 False conjunctivitis inflammatory disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0003803 MONDO:0005561 False aortic valve disorder aortic disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003803 MONDO:0045001 False aortic valve disorder cardiac ventricle disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0003806 MONDO:0005626 False thyroid hyalinizing trabecular adenoma epithelial neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0003809 MONDO:0021386 False malignant mediastinum hemangiopericytoma neoplasm of mediastinum UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0003811 MONDO:0021043 False ovarian seromucinous tumor mixed neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0003816 MONDO:0006816 False articular cartilage disorder arthropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003824 MONDO:0100191 False hereditary kidney oncocytoma inherited kidney disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003827 MONDO:0016463 False transient hypogammaglobulinemia syndromic agammaglobulinemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0003828 MONDO:0002038 False growth hormone-producing pituitary gland carcinoma head and neck carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003828 MONDO:0002415 False growth hormone-producing pituitary gland carcinoma bone carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003828 MONDO:0019927 False growth hormone-producing pituitary gland carcinoma growth hormone-producing pituitary gland neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003832 MONDO:0021094 False complement deficiency immunodeficiency disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003846 MONDO:0043424 False viral esophagitis digestive system infectious disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0003830 MONDO:0003829 False type 1 papillary adenoma of the kidney chromophil adenoma of the kidney UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003831 MONDO:0003829 False type 2 papillary adenoma of the kidney chromophil adenoma of the kidney UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003832 MONDO:0003778 False complement deficiency inborn error of immunity UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003834 MONDO:0001063 False gastric cardia carcinoma cardia cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003837 MONDO:0003429 False TSH producing pituitary tumor functioning pituitary gland adenoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003844 MONDO:0000628 False central nervous system lipoma central nervous system organ benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003847 MONDO:0700096 False hereditary disease human disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0003857 MONDO:0005094 False adult intracranial malignant hemangiopericytoma hemangiopericytoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003860 MONDO:0000642 False cerebellopontine angle meningioma brain meningioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003864 MONDO:0004948 False chronic lymphocytic leukemia/small lymphocytic lymphoma B-cell chronic lymphocytic leukemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003872 MONDO:0002533 False ovarian papillary cystadenoma papillary adenoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003876 MONDO:0002656 False eyelid carcinoma skin carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003879 MONDO:0002991 False ovarian endometrioid adenocarcinofibroma adenocarcinofibroma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003899 MONDO:0003681 False adult myxoid chondrosarcoma myxoid chondrosarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0003879 MONDO:0008170 False ovarian endometrioid adenocarcinofibroma ovarian cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003893 MONDO:0004972 False rete testis adenoma adenoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003898 MONDO:0003681 False pediatric myxoid chondrosarcoma myxoid chondrosarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003900 MONDO:0700096 False connective tissue disorder human disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0003901 MONDO:0002328 False cerebellar hemangioblastoma intracranial hemangioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003901 MONDO:0021499 False cerebellar hemangioblastoma benign neoplasm of cerebellum UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0003902 MONDO:0002328 False brain stem hemangioblastoma intracranial hemangioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003902 MONDO:0021507 False brain stem hemangioblastoma benign neoplasm of brain stem UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0003909 MONDO:0002193 False Bartholin gland adenomyoma Bartholin gland benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003909 MONDO:0005635 False Bartholin gland adenomyoma adenomyoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003912 MONDO:0004064 False malignant ciliary body melanoma iris melanoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003916 MONDO:0005137 False overnutrition nutritional disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003926 MONDO:0021065 False neurilemmoma of the pleura pleural neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0003927 MONDO:0006486 False posterior uveal melanoma uveal melanoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003930 MONDO:0005611 False non-invasive bladder urothelial carcinoma bladder transitional cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003931 MONDO:0004071 False childhood optic tract astrocytoma childhood cerebral astrocytoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003932 MONDO:0003235 False childhood optic nerve glioma optic nerve glioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003934 MONDO:0005590 False breast apocrine carcinoma breast ductal adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003936 MONDO:0004953 False invasive tubular breast carcinoma invasive ductal breast carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003937 MONDO:0021166 False spondylitis inflammatory disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0003937 MONDO:0045002 False spondylitis vertebral disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0003939 MONDO:0002081 False muscle tissue disorder musculoskeletal system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003940 MONDO:0005095 False Kummell disease spondyloarthropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003940 MONDO:0005380 False Kummell disease osteonecrosis UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003940 MONDO:0045002 False Kummell disease vertebral disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0003944 MONDO:0002807 False endobronchial leiomyoma bronchial neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003946 MONDO:0000502 False vaginal villous adenoma villous adenoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003950 MONDO:0000653 False nipple carcinoma integumentary system cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003954 MONDO:0003143 False angiokeratoma of Fordyce angiokeratoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003955 MONDO:0002063 False juvenile breast papillomatosis breast papillomatosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0003956 MONDO:0000812 False Baastrup syndrome vertebral column disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003962 MONDO:0002254 False Froelich syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003965 MONDO:0002254 False Capgras syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003956 MONDO:0005381 False Baastrup syndrome bone disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003960 MONDO:0003050 False pulmonary large cell neuroendocrine carcinoma lung large cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003962 MONDO:0002150 False Froelich syndrome hypothalamic disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003964 MONDO:0021167 False myositis ossificans myositis disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003965 MONDO:0004359 False Capgras syndrome delusional disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003969 MONDO:0002491 False amphetamine abuse substance abuse UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003976 MONDO:0006451 False malignant type AB thymoma thymic carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003979 MONDO:0003444 False intrahepatic bile duct cystadenoma intrahepatic bile duct adenoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003980 MONDO:0024653 False schwannoma of jugular foramen skull neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0003988 MONDO:0017814 False sternum lymphoma primary bone lymphoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004001 MONDO:0002254 False compartment syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003996 MONDO:0005560 False basal ganglia disorder brain disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004004 MONDO:0002122 False motor nerve neuritis neuritis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004004 MONDO:0002316 False motor nerve neuritis motor peripheral neuropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004005 MONDO:0005179 False rete ovarii adenoma ovarian adenoma benign UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0004006 MONDO:0000646 False rete ovarii cystadenofibroma ovarian benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004017 MONDO:0002073 False pineal region immature teratoma malignant pineal area germ cell neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004017 MONDO:0003514 False pineal region immature teratoma malignant teratoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004017 MONDO:0003578 False pineal region immature teratoma extragonadal nonseminomatous germ cell tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004024 MONDO:0000640 False spinal cord neuroblastoma central nervous system primitive neuroectodermal neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004026 MONDO:0060765 False skin tag fibroepithelial polyp UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0004026 MONDO:0006603 False skin tag reactive cutaneous fibrous lesion UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004031 MONDO:0005140 False ovary mixed epithelial carcinoma ovarian carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004037 MONDO:0005283 False retinal edema retinal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004038 MONDO:0002220 False dental enamel hypoplasia tooth hard tissue disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004039 MONDO:0002665 False papillary extrahepatic bile duct adenocarcinoma extrahepatic bile duct adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004046 MONDO:0000642 False childhood brain meningioma brain meningioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004047 MONDO:0002785 False sphenoidal sinus neoplasm skull base neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004047 MONDO:0023369 False sphenoidal sinus neoplasm disorder of facial skeleton UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0004048 MONDO:0003112 False immature gastric teratoma malignant gastric germ cell tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004048 MONDO:0003514 False immature gastric teratoma malignant teratoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004048 MONDO:0003578 False immature gastric teratoma extragonadal nonseminomatous germ cell tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004049 MONDO:0003763 False combat disorder acute stress disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004054 MONDO:0004055 False acute canaliculitis acute inflammation of lacrimal passage UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004055 MONDO:0001854 False acute inflammation of lacrimal passage lacrimal apparatus disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004055 MONDO:0020683 False acute inflammation of lacrimal passage acute disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0004058 MONDO:0001933 False pancreatic cholera endocrine pancreas disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004059 MONDO:0002220 False dentin sensitivity tooth hard tissue disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004066 MONDO:0004063 False intermediate cell type ciliary body melanoma intermediate cell type iris melanoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004069 MONDO:0015327 False inborn mitochondrial metabolism disorder developmental anomaly of metabolic origin UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0004069 MONDO:0019243 False inborn mitochondrial metabolism disorder inborn disorder of energy metabolism UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0004069 MONDO:0044970 False inborn mitochondrial metabolism disorder mitochondrial disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0004071 MONDO:0002731 False childhood cerebral astrocytoma cerebral hemisphere cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004071 MONDO:0005499 False childhood cerebral astrocytoma brain glioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004071 MONDO:0006517 False childhood cerebral astrocytoma childhood malignant neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0004076 MONDO:0024715 False tendon sheath lipoma benign synovial neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0004076 MONDO:0024876 False tendon sheath lipoma tendon sheath disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0004077 MONDO:0000812 False lumbosacral lipoma vertebral column disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004078 MONDO:0002739 False mucinous intrahepatic cholangiocarcinoma extrahepatic bile duct mucinous adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004079 MONDO:0003427 False lung mucous gland adenoma bronchus adenoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004082 MONDO:0004479 False childhood immature teratoma of ovary malignant childhood germ cell neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004083 MONDO:0002656 False Borst-Jadassohn intraepidermal carcinoma skin carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004095 MONDO:0004805 False B-cell neoplasm leukocyte disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004095 MONDO:0005062 False B-cell neoplasm lymphoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004104 MONDO:0004699 False splenic manifestation of hairy cell leukemia gastrointestinal lymphoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004109 MONDO:0021358 False epiglottis neoplasm neoplasm of hypopharynx UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0004116 MONDO:0003649 False esophageal small cell neuroendocrine carcinoma esophageal neuroendocrine tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS @@ -20122,32 +13252,56 @@ MONDO:0004117 MONDO:0024500 False ampulla of vater small cell neuroendocrine car MONDO:0004126 MONDO:0021166 False thyroiditis inflammatory disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0004131 MONDO:0027026 False anal verrucous carcinoma Buschke Lowenstein tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0004131 MONDO:0043424 False anal verrucous carcinoma digestive system infectious disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0004133 MONDO:0006373 False pituitary gland mixed eosinophil-basophil adenoma pituitary gland adenoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004135 MONDO:0001949 False subacute lymphocytic thyroiditis acute thyroiditis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004140 MONDO:0003514 False intermediate malignant teratoma malignant teratoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004148 MONDO:0002512 False gallbladder papillary neoplasm with an associated invasive carcinoma papillary adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004149 MONDO:0006215 False gallbladder pleomorphic giant cell adenocarcinoma gallbladder adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004151 MONDO:0003544 False spinal meninges cancer spinal cord cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004151 MONDO:0021322 False spinal meninges cancer malignant tumor of meninges UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0004156 MONDO:0002867 False pancreatic mucinous cystadenocarcinoma pancreatic cystadenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004156 MONDO:0005858 False pancreatic mucinous cystadenocarcinoma mucinous cystadenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004158 MONDO:0004156 False pancreatic mucinous-cystic neoplasm with an associated invasive carcinoma pancreatic mucinous cystadenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004159 MONDO:0004156 False pancreatic non-invasive mucinous cystadenocarcinoma pancreatic mucinous cystadenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004166 MONDO:0003847 False hereditary fallopian tube carcinoma hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004169 MONDO:0002263 False premenstrual tension female reproductive system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004170 MONDO:0001269 False nodular episcleritis scleral disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004172 MONDO:0002879 False uterine corpus adenocarcinofibroma uterine body mixed cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004172 MONDO:0002991 False uterine corpus adenocarcinofibroma adenocarcinofibroma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004173 MONDO:0001869 False adenocarcinoma of skene gland origin paraurethral gland cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004173 MONDO:0024336 False adenocarcinoma of skene gland origin vulvar adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004175 MONDO:0005461 False mucin-rich endometrial endometrioid adenocarcinoma endometrium adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004175 MONDO:0006192 False mucin-rich endometrial endometrioid adenocarcinoma endometrial endometrioid adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0004182 MONDO:0004986 False stage IVb bladder cancer urinary bladder carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004185 MONDO:0005182 False ovarian serous cystadenofibroma serous cystadenofibroma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004186 MONDO:0024653 False cranial nodular fasciitis skull neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004190 MONDO:0004191 False nephrogenic adenoma of urinary bladder nephrogenic adenoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004186 MONDO:0005172 False cranial nodular fasciitis skeletal system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0004187 MONDO:0004830 False nodular fasciitis fasciitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004187 MONDO:0019296 False nodular fasciitis subcutaneous tissue disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0004189 MONDO:0003749 False esophageal tuberculosis esophageal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004189 MONDO:0005768 False esophageal tuberculosis gastrointestinal tuberculosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004190 MONDO:0000384 False nephrogenic adenoma of urinary bladder bladder benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004191 MONDO:0002513 False nephrogenic adenoma kidney benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004202 MONDO:0002814 False adrenal medulla carcinoma adrenal carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004204 MONDO:0001825 False squamous cell skin papilloma squamous papilloma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004202 MONDO:0003606 False adrenal medulla carcinoma adrenal medulla cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004206 MONDO:0004634 False pulmonary vein leiomyosarcoma vein disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004206 MONDO:0016982 False pulmonary vein leiomyosarcoma angiosarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004206 MONDO:0040676 False pulmonary vein leiomyosarcoma great vessel cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0004207 MONDO:0000473 False pulmonary artery leiomyosarcoma arterial disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004207 MONDO:0016982 False pulmonary artery leiomyosarcoma angiosarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004207 MONDO:0040676 False pulmonary artery leiomyosarcoma great vessel cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0004208 MONDO:0003032 False superior vena cava leiomyosarcoma superior vena cava angiosarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004212 MONDO:0024609 False vulvar keratoacanthoma-like carcinoma vulvar squamous cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004215 MONDO:0005119 False cutaneous anthrax anthrax infection UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004215 MONDO:0024295 False cutaneous anthrax skin disease caused by bacterial infection UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0004221 MONDO:0004526 False uterine corpus perivascular epithelioid cell tumor mixed endometrial stromal and smooth muscle tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004225 MONDO:0004960 False monoclonal gammopathy of uncertain significance monoclonal gammopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0004226 MONDO:0021098 False diffuse intraductal papillomatosis papillomatosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0004227 MONDO:0002373 False epididymal adenomatoid tumor benign mesothelioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004230 MONDO:0005065 False adenomatoid tumor mesothelioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0004235 MONDO:0021166 False diverticulitis inflammatory disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0004241 MONDO:0002614 False Osgood-Schlatter disease bone inflammation disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004242 MONDO:0004247 False active peptic ulcer disease peptic ulcer disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004245 MONDO:0003266 False ependymal tumor of brain ependymal tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0004245 MONDO:0005499 False ependymal tumor of brain brain glioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004247 MONDO:0043839 False peptic ulcer disease ulcer disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0004248 MONDO:0006517 False pediatric infratentorial ependymoma childhood malignant neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0004248 MONDO:0020685 False pediatric infratentorial ependymoma infratentorial ependymal tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -20155,117 +13309,192 @@ MONDO:0004249 MONDO:0006517 False pediatric supratentorial ependymoma childhood MONDO:0004249 MONDO:0020687 False pediatric supratentorial ependymoma supratentorial ependymal tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0004250 MONDO:0003455 False extrahepatic bile duct papillary adenoma bile duct papillary neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004251 MONDO:0024635 False small intestine neoplasm small intestine disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004253 MONDO:0002063 False intraductal breast papillomatosis breast papillomatosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0004254 MONDO:0021098 False focal intraductal papillomatosis papillomatosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0004255 MONDO:0021629 False Wolffian adnexal tumor uterine ligament neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0004259 MONDO:0005131 False endocervical carcinoma cervical carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004259 MONDO:0021309 False endocervical carcinoma malignant neoplasm of endocervix UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0004260 MONDO:0004247 False peptic ulcer perforation peptic ulcer disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004263 MONDO:0002798 False pediatric infratentorial ependymoblastoma childhood central nervous system primitive neuroectodermal neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004263 MONDO:0003142 False pediatric infratentorial ependymoblastoma intracranial primitive neuroectodermal tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004264 MONDO:0004265 False acute gonococcal endometritis acute endometritis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004265 MONDO:0020683 False acute endometritis acute disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0004269 MONDO:0003208 False breast cystic hypersecretory carcinoma breast secretory carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004272 MONDO:0005247 False urinary bladder tuberculosis bacterial urinary tract infection UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0004272 MONDO:0006002 False urinary bladder tuberculosis urogenital tuberculosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004272 MONDO:0006026 False urinary bladder tuberculosis urinary bladder disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004273 MONDO:0002804 False breast apocrine adenoma apocrine adenoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004273 MONDO:0021110 False breast apocrine adenoma sweat gland adenoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0004273 MONDO:0021489 False breast apocrine adenoma benign neoplasm of sweat gland UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0004273 MONDO:0024666 False breast apocrine adenoma benign epithelial skin neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0004275 MONDO:0002415 False osteosarcoma arising in bone Paget disease bone carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004275 MONDO:0021165 False osteosarcoma arising in bone Paget disease Paget disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0004277 MONDO:0000314 False gonorrhea primary bacterial infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004277 MONDO:0005323 False gonorrhea bacterial sexually transmitted disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004279 MONDO:0002316 False glossopharyngeal motor neuropathy motor peripheral neuropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004279 MONDO:0002639 False glossopharyngeal motor neuropathy glossopharyngeal nerve disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004280 MONDO:0004004 False asymmetric motor neuropathy motor nerve neuritis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004285 MONDO:0005192 False pancreatic intraductal papillary-mucinous carcinoma exocrine pancreatic carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004286 MONDO:0002116 False pancreatic intraductal papillary-mucinous neoplasm malignant exocrine pancreas neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004294 MONDO:0016096 False gestational ovarian choriocarcinoma malignant non-dysgerminomatous germ cell tumor of ovary UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0004310 MONDO:0002795 False adult embryonal tumor with multilayered rosettes, c19mc-altered adult central nervous system primitive neuroectodermal neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004311 MONDO:0003975 False carcinoma of Cowper glands Littre gland carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004311 MONDO:0005836 False carcinoma of Cowper glands male reproductive organ cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004312 MONDO:0023369 False suprasellar meningioma disorder of facial skeleton UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0004315 MONDO:0021581 False cholangiolocellular carcinoma connective tissue neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004333 MONDO:0023206 False pancreatic ACTH-producing neuroendocrine tumor functional pancreatic neuroendocrine tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0004323 MONDO:0005336 False muscular atrophy myopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004329 MONDO:0004285 False pancreatic intraductal papillary-mucinous neoplasm with high grade dysplasia pancreatic intraductal papillary-mucinous carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004331 MONDO:0001378 False bladder urachal adenocarcinoma urachus cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004335 MONDO:0700096 False digestive system disorder human disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0004337 MONDO:0002655 False perianal skin Paget disease cutaneous Paget disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004338 MONDO:0003072 False retinal cell cancer retinal cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004338 MONDO:0024341 False retinal cell cancer retinal cell neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0004339 MONDO:0023369 False tuberculum sellae meningioma disorder of facial skeleton UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0004340 MONDO:0005184 False mixed ductal-endocrine carcinoma of pancreas pancreatic ductal adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004346 MONDO:0002664 False signet ring cell intrahepatic cholangiocarcinoma extrahepatic bile duct signet ring cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004348 MONDO:0002311 False retinal telangiectasia retinal vascular disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004352 MONDO:0004245 False adult brain ependymoma ependymal tumor of brain UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004359 MONDO:0005485 False delusional disorder psychotic disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004363 MONDO:0002542 False adult spinal cord glioblastoma spinal cord glioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004369 MONDO:0005240 False renal infectious disease kidney disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004373 MONDO:0003262 False adult papillary meningioma rhabdoid meningioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004374 MONDO:0002129 False adult extraskeletal osteosarcoma bone cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004378 MONDO:0002731 False pediatric cerebral ependymoblastoma cerebral hemisphere cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004378 MONDO:0002798 False pediatric cerebral ependymoblastoma childhood central nervous system primitive neuroectodermal neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004378 MONDO:0003142 False pediatric cerebral ependymoblastoma intracranial primitive neuroectodermal tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004380 MONDO:0000621 False dendritic cell sarcoma immune system cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004380 MONDO:0004805 False dendritic cell sarcoma leukocyte disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004380 MONDO:0005089 False dendritic cell sarcoma sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004380 MONDO:0006247 False dendritic cell sarcoma histiocytic and dendritic cell neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004382 MONDO:0004867 False laryngeal disorder upper respiratory tract disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004385 MONDO:0024617 False adult xanthogranuloma xanthogranuloma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004387 MONDO:0024575 False luteoma of pregnancy pregnancy disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0004389 MONDO:0002875 False mite infestation parasitic ectoparasitic infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004390 MONDO:0005328 False ocular hypotension eye disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004394 MONDO:0004958 False maxillary sinus squamous cell carcinoma oral cavity squamous cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004398 MONDO:0000638 False mediastinal schwannoma benign glioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0004398 MONDO:0056804 False mediastinal schwannoma benign neoplasm of peripheral nervous system UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004409 MONDO:0003950 False nipple duct carcinoma nipple carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004412 MONDO:0024240 False malignant spiradenoma eccrine carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004420 MONDO:0004988 False breast malignant eccrine spiradenoma breast adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004429 MONDO:0002898 False skin meningioma skin cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004429 MONDO:0016642 False skin meningioma meningioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004429 MONDO:0021322 False skin meningioma malignant tumor of meninges UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0004431 MONDO:0006816 False hemarthrosis arthropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004436 MONDO:0016248 False ovarian myxoid liposarcoma familial ovarian cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0004440 MONDO:0000642 False pineal region meningioma brain meningioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004446 MONDO:0000642 False olfactory groove meningioma brain meningioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004447 MONDO:0000642 False pituitary stalk meningioma brain meningioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004447 MONDO:0002997 False pituitary stalk meningioma anterior cranial fossa meningioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004447 MONDO:0003257 False pituitary stalk meningioma posterior pituitary gland neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004450 MONDO:0003718 False carotid artery occlusion occlusion precerebral artery UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004450 MONDO:0005269 False carotid artery occlusion carotid artery disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004456 MONDO:0002491 False cocaine abuse substance abuse UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004461 MONDO:0024661 False vaginal tubulovillous adenoma tubulovillous adenoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0004462 MONDO:0003445 False extrahepatic bile duct cystadenoma extrahepatic bile duct adenoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004463 MONDO:0700007 False cellular phase chronic idiopathic myelofibrosis idiopathic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0004464 MONDO:0004177 False nephrogenic adenoma of the urethra benign urethral neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004465 MONDO:0002670 False periampullary adenocarcinoma ampulla of vater adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004466 MONDO:0021166 False neuronitis inflammatory disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0004471 MONDO:0005113 False bacterial arthritis bacterial infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004471 MONDO:0042485 False bacterial arthritis infective arthritis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0004473 MONDO:0005216 False epiglottis cancer hypopharyngeal carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0004477 MONDO:0006076 False adrenal gland ganglioneuroblastoma adrenal gland neuroblastoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004481 MONDO:0004285 False pancreatic intraductal papillary-mucinous neoplasm with an associated invasive carcinoma pancreatic intraductal papillary-mucinous carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004489 MONDO:0003392 False fallopian tube gestational choriocarcinoma fallopian tube germ cell tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004490 MONDO:0004491 False gestational uterine corpus choriocarcinoma uterine corpus choriocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004490 MONDO:0020550 False gestational uterine corpus choriocarcinoma gestational choriocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004491 MONDO:0016273 False uterine corpus choriocarcinoma malignant germ cell tumor of corpus uteri UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0004492 MONDO:0021166 False mediastinitis inflammatory disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004495 MONDO:0016107 False myotonic cataract myotonic dystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004496 MONDO:0000591 False myocarditis intrinsic cardiomyopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004496 MONDO:0024636 False myocarditis inflammation of heart layer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004496 MONDO:0024643 False myocarditis myocardial disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0004502 MONDO:0016642 False parapharyngeal meningioma meningioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004504 MONDO:0001325 False penile urethral cancer penile cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004508 MONDO:0005076 False periapical periodontitis periodontitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004510 MONDO:0005103 False inflammatory liposarcoma well-differentiated liposarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0004517 MONDO:0001926 False ureter tuberculosis ureteral disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004517 MONDO:0005247 False ureter tuberculosis bacterial urinary tract infection UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0004517 MONDO:0006002 False ureter tuberculosis urogenital tuberculosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004522 MONDO:0004335 False peritonitis digestive system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004522 MONDO:0043786 False peritonitis serositis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004525 MONDO:0021201 False scabies skin infection UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0004524 MONDO:0005032 False thyroid gland atypical follicular adenoma follicular thyroid adenoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004525 MONDO:0004389 False scabies mite infestation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004527 MONDO:0002320 False congenital granular cell tumor congenital nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004527 MONDO:0006235 False congenital granular cell tumor granular cell tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004528 MONDO:0024339 False lymph node palisaded myofibroblastoma lymph node neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004531 MONDO:0003725 False sclerosing adenosis of breast breast adenosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004532 MONDO:0000649 False auditory system cancer sensory system cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004532 MONDO:0002409 False auditory system cancer auditory system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004538 MONDO:0002742 False endocervical type cervical mucinous adenocarcinoma cervical mucinous adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004539 MONDO:0005561 False aortic malignant tumor aortic disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004546 MONDO:0001829 False lumbar plexus neoplasm lumbosacral plexus lesion UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004549 MONDO:0005766 False cork-handlers' disease fungal lung infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0004549 MONDO:0017853 False cork-handlers' disease hypersensitivity pneumonitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004551 MONDO:0001229 False Meckel diverticulitis small intestine diverticulitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004551 MONDO:0043579 False Meckel diverticulitis enteritis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0004555 MONDO:0002513 False kidney angiomyolipoma kidney benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004555 MONDO:0020581 False kidney angiomyolipoma benign PEComa UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0004557 MONDO:0002677 False congenital fibrosarcoma conventional fibrosarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004568 MONDO:0004567 False paralytic ileus ileus UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004557 MONDO:0002678 False congenital fibrosarcoma pediatric fibrosarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004562 MONDO:0004658 False breast apocrine carcinoma in situ breast carcinoma in situ UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004564 MONDO:0003240 False thyroid malformation thyroid gland disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004565 MONDO:0005020 False intestinal obstruction intestinal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004566 MONDO:0001318 False postgastrectomy syndrome functional gastric disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004566 MONDO:0005020 False postgastrectomy syndrome intestinal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004567 MONDO:0004565 False ileus intestinal obstruction UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004569 MONDO:0006683 False brachial plexus neuropathy from injury brachial plexus neuropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004570 MONDO:0004565 False intestinal volvulus intestinal obstruction UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004571 MONDO:0004565 False intestinal impaction intestinal obstruction UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004573 MONDO:0003847 False ariboflavinosis hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004574 MONDO:0042976 False pyridoxine deficiency anemia vitamin B deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0004573 MONDO:0006873 False ariboflavinosis nutritional deficiency disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004575 MONDO:0006873 False choline deficiency disease nutritional deficiency disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004577 MONDO:0043839 False corneal ulcer ulcer disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004582 MONDO:0006955 False rheumatic myocarditis rheumatic heart disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004578 MONDO:0004579 False flat retinoschisis retinoschisis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004579 MONDO:0004580 False retinoschisis retinal degeneration UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004584 MONDO:0002312 False maple bark strippers' lung opportunistic mycosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004584 MONDO:0005766 False maple bark strippers' lung fungal lung infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0004584 MONDO:0017853 False maple bark strippers' lung hypersensitivity pneumonitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004585 MONDO:0024575 False polyhydramnios pregnancy disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0004586 MONDO:0005275 False rheumatoid lung disease lung disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004586 MONDO:0007179 False rheumatoid lung disease autoimmune disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004587 MONDO:0003847 False hereditary night blindness hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004588 MONDO:0001941 False night blindness blindness (disorder) UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004587 MONDO:0004588 False hereditary night blindness night blindness UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004588 MONDO:0005283 False night blindness retinal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004591 MONDO:0004592 False impetigo herpetiformis impetigo UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004591 MONDO:0024575 False impetigo herpetiformis pregnancy disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0004592 MONDO:0002922 False impetigo pyoderma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004592 MONDO:0005545 False impetigo staphylococcus aureus infection UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004592 MONDO:0021201 False impetigo skin infection UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0004592 MONDO:0021680 False impetigo streptococcal infection UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0004592 MONDO:0024295 False impetigo skin disease caused by bacterial infection UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0004593 MONDO:0002051 False Bartholin duct cyst integumentary system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004597 MONDO:0005275 False pulmonary embolism and infarction lung disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004593 MONDO:0002263 False Bartholin duct cyst female reproductive system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004594 MONDO:0005279 False puerperal pulmonary embolism pulmonary embolism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004596 MONDO:0005009 False cor pulmonale congestive heart failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004598 MONDO:0004596 False acute cor pulmonale cor pulmonale UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004598 MONDO:0020683 False acute cor pulmonale acute disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0004599 MONDO:0002491 False barbiturate abuse substance abuse UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004600 MONDO:0005059 False monocytic leukemia leukemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004601 MONDO:0004605 False ulcer of lower limbs chronic ulcer of skin UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004605 MONDO:0005093 False chronic ulcer of skin skin disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004609 MONDO:0005794 False herpes simplex infectious disease Herpesviridae infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004613 MONDO:0020675 False acute intestinal ischemia ischemic bowel disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0004612 MONDO:0002637 False malignant histiocytosis histiocytosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004613 MONDO:0020683 False acute intestinal ischemia acute disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0004614 MONDO:0001014 False chronic monocytic leukemia chronic leukemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004616 MONDO:0005898 False herpetic whitlow paronychia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004614 MONDO:0004600 False chronic monocytic leukemia monocytic leukemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004615 MONDO:0005507 False upper gum cancer gingival cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004616 MONDO:0004609 False herpetic whitlow herpes simplex infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004616 MONDO:0024294 False herpetic whitlow skin disorder caused by infection UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0004616 MONDO:0024487 False herpetic whitlow nail infection UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0004618 MONDO:0005071 False diplegia of upper limb nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004619 MONDO:0005857 False measles morbillivirus infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0004621 MONDO:0006834 False upper lip cancer lip cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004622 MONDO:0005020 False chronic intestinal vascular insufficiency intestinal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004622 MONDO:0020674 False chronic intestinal vascular insufficiency vascular insufficiency disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0004625 MONDO:0018882 False phlebitis vasculitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004627 MONDO:0002866 False duodenitis duodenal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004627 MONDO:0043579 False duodenitis enteritis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0004628 MONDO:0001126 False gastroduodenitis gastric ulcer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004628 MONDO:0004627 False gastroduodenitis duodenitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004628 MONDO:0004966 False gastroduodenitis gastritis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004629 MONDO:0020683 False subacute delirium acute disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0004629 MONDO:0045057 False subacute delirium delirium UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0004630 MONDO:0005485 False substance-induced psychosis psychotic disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004631 MONDO:0000649 False tongue cancer sensory system cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004636 MONDO:0000371 False lip carcinoma in situ oral cavity carcinoma in situ UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004637 MONDO:0002352 False aryepiglottic fold cancer larynx cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004638 MONDO:0000612 False lymphosarcoma lymphatic system cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0004638 MONDO:0018908 False lymphosarcoma non-Hodgkin lymphoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -20274,177 +13503,328 @@ MONDO:0004642 MONDO:0000637 False tonsillar pillar cancer musculoskeletal system MONDO:0004642 MONDO:0003939 False tonsillar pillar cancer muscle tissue disorder UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004643 MONDO:0020076 False myeloid leukemia myeloproliferative neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004644 MONDO:0007896 False subacute monocytic leukemia acute monocytic leukemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004646 MONDO:0004605 False decubitus ulcer chronic ulcer of skin UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004647 MONDO:0020665 False in situ carcinoma high grade malignant neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0004648 MONDO:0011057 False vascular dementia cerebrovascular disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004649 MONDO:0004652 False anaerobic pneumonia bacterial pneumonia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004649 MONDO:0024389 False anaerobic pneumonia anaerobic bacteria infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0004650 MONDO:0002095 False malignant carotid body paraganglioma vascular cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004650 MONDO:0002714 False malignant carotid body paraganglioma central nervous system cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004651 MONDO:0100329 False smallpox primary viral infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0004653 MONDO:0004643 False atypical chronic myeloid leukemia, BCR-ABL1 negative myeloid leukemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004653 MONDO:0020077 False atypical chronic myeloid leukemia, BCR-ABL1 negative myelodysplastic/myeloproliferative disease UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0004656 MONDO:0100329 False rubella primary viral infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0004657 MONDO:0004674 False disseminated chorioretinitis chorioretinitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004659 MONDO:0002466 False eye carcinoma in situ eye carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004670 MONDO:0005554 False lupus erythematosus rheumatic disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004674 MONDO:0020283 False chorioretinitis uveitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004659 MONDO:0004647 False eye carcinoma in situ in situ carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004662 MONDO:0004664 False heterophyiasis helminthiasis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004663 MONDO:0004698 False colon carcinoma in situ intestine carcinoma in situ UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004666 MONDO:0004664 False metagonimiasis helminthiasis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004669 MONDO:0005515 False salivary gland cancer oral cavity cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004673 MONDO:0006834 False lower lip cancer lip cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004675 MONDO:0009637 False mitochondrial encephalomyopathy inborn mitochondrial myopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004677 MONDO:0024268 False tinea nigra superficial mycosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004678 MONDO:0005982 False dermatophytosis tinea infection UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0004678 MONDO:0024268 False dermatophytosis superficial mycosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004679 MONDO:0043243 False leukoplakia of vagina leukoplakia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0004679 MONDO:0001433 False leukoplakia of vagina vaginal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004680 MONDO:0000602 False primary thrombocytopenia autoimmune disorder of blood UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004681 MONDO:0000592 False learning disability specific developmental disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004682 MONDO:0002131 False retromolar area cancer jaw cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004682 MONDO:0005515 False retromolar area cancer oral cavity cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004682 MONDO:0037744 False retromolar area cancer neoplasm of retromolar area UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0004685 MONDO:0000621 False Waldeyer's ring cancer immune system cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004685 MONDO:0004608 False Waldeyer's ring cancer oropharynx cancer UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004685 MONDO:0044986 False Waldeyer's ring cancer lymphoid system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0004686 MONDO:0020213 False lattice corneal dystrophy stromal corneal dystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004687 MONDO:0001661 False severe nonproliferative diabetic retinopathy background diabetic retinopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004697 MONDO:0043243 False esophageal leukoplakia leukoplakia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0004689 MONDO:0019052 False inborn metal metabolism disorder inborn errors of metabolism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004691 MONDO:0000426 False autosomal dominant polycystic kidney disease autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004697 MONDO:0003749 False esophageal leukoplakia esophageal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004698 MONDO:0004647 False intestine carcinoma in situ in situ carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004698 MONDO:0005814 False intestine carcinoma in situ intestinal cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004698 MONDO:0006181 False intestine carcinoma in situ digestive system carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004702 MONDO:0043243 False uterine cervix leukoplakia leukoplakia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0004702 MONDO:0002256 False uterine cervix leukoplakia cervix disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004705 MONDO:0005167 False liver solitary fibrous tumor fibroma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004706 MONDO:0002137 False discoid lupus erythematosus of eyelid noninfectious dermatoses of eyelid UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004707 MONDO:0004725 False anal canal carcinoma in situ rectum carcinoma in situ UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004709 MONDO:0044996 False occipital lobe neoplasm cerebral cortex disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0004710 MONDO:0004647 False uterus carcinoma in situ in situ carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004710 MONDO:0005213 False uterus carcinoma in situ uterine carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004712 MONDO:0021201 False herpes simplex dermatitis skin infection UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0004713 MONDO:0005507 False lower gum cancer gingival cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004714 MONDO:0003939 False atrophic muscular disease muscle tissue disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004714 MONDO:0019056 False atrophic muscular disease neuromuscular disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004715 MONDO:0004647 False liver carcinoma in situ in situ carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004715 MONDO:0018531 False liver carcinoma in situ carcinoma of liver and intrahepatic biliary tract UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0004717 MONDO:0002405 False peliosis hepatis hepatic vascular disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004718 MONDO:0002137 False xeroderma of eyelid noninfectious dermatoses of eyelid UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004723 MONDO:0000627 False liver leiomyoma benign endocrine neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004725 MONDO:0004698 False rectum carcinoma in situ intestine carcinoma in situ UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004731 MONDO:0002254 False central sleep apnea syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004727 MONDO:0005515 False vestibule of mouth cancer oral cavity cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004728 MONDO:0005266 False diabetic macular edema diabetic retinopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004729 MONDO:0003749 False dyskinesia of esophagus esophageal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004731 MONDO:0005296 False central sleep apnea syndrome sleep apnea syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004732 MONDO:0004647 False kidney carcinoma in situ in situ carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004732 MONDO:0005206 False kidney carcinoma in situ renal carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004736 MONDO:0019052 False inborn disorder of amino acid metabolism inborn errors of metabolism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004737 MONDO:0004736 False homocystinuria inborn disorder of amino acid metabolism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004737 MONDO:0019222 False homocystinuria inborn disorder of methionine cycle and sulfur amino acid metabolism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004737 MONDO:0037871 False homocystinuria amino acid metabolism disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0004739 MONDO:0004736 False urea cycle disorder inborn disorder of amino acid metabolism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004739 MONDO:0019189 False urea cycle disorder inborn disorder of amino acid and other organic acid metabolism UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0004741 MONDO:0017307 False tyrosinemia disorder of tyrosine metabolism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0004742 MONDO:0022687 False primary cerebellar degeneration cerebellar degeneration UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004743 MONDO:0004737 False hyperhomocysteinemia homocystinuria UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004744 MONDO:0005041 False borderline glaucoma glaucoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004745 MONDO:0005294 False priapism peripheral vascular disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004745 MONDO:0005362 False priapism erectile dysfunction UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004746 MONDO:0000462 False myopathy of extraocular muscle eye adnexa disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0004746 MONDO:0005336 False myopathy of extraocular muscle myopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004746 MONDO:0024458 False myopathy of extraocular muscle disorder of visual system UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0004747 MONDO:0000358 False cleft lip orofacial cleft UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004750 MONDO:0002182 False language disorder communication disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004751 MONDO:0000462 False disease of orbital part of eye adnexa eye adnexa disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0004752 MONDO:0001340 False neurofibroma of the heart heart cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004752 MONDO:0021089 False neurofibroma of the heart peripheral nervous system cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0004752 MONDO:0100342 False neurofibroma of the heart malignant glioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004753 MONDO:0003432 False mechanical strabismus strabismus UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004754 MONDO:0001593 False rectal prolapse rectal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004755 MONDO:0004664 False monieziasis helminthiasis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004756 MONDO:0020641 False nasal cavity neoplasm respiratory tract neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004757 MONDO:0006031 False chronic ethmoidal sinusitis chronic rhinosinusitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0004758 MONDO:0005328 False scotoma eye disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004759 MONDO:0000596 False zoophilia paraphilic disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004760 MONDO:0004184 False urethral false passage urethral disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004762 MONDO:0002654 False Taylor syndrome uterine disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004764 MONDO:0002183 False fibular collateral ligament bursitis enthesopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004765 MONDO:0004979 False intrinsic asthma asthma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004767 MONDO:0006882 False vesiculitis orchitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004768 MONDO:0003799 False keratoconjunctivitis conjunctivitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004769 MONDO:0021167 False orbital plasma cell granuloma myositis disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004769 MONDO:0001849 False orbital plasma cell granuloma chronic orbital inflammation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004770 MONDO:0005328 False exophthalmos eye disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0004772 MONDO:0004773 False glaucomatocyclitic crisis iridocyclitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004773 MONDO:0002970 False iridocyclitis ciliary body disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004773 MONDO:0006814 False iridocyclitis iritis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004774 MONDO:0004853 False gonococcal iridocyclitis gonococcal endophthalmia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004774 MONDO:0017210 False gonococcal iridocyclitis infectious anterior uveitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004775 MONDO:0004773 False lens-induced iridocyclitis iridocyclitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004777 MONDO:0020683 False acute laryngitis acute disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0004778 MONDO:0004779 False epididymo-orchitis epididymitis UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004778 MONDO:0006882 False epididymo-orchitis orchitis UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004779 MONDO:0005550 False epididymitis infectious disease UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004779 MONDO:0021166 False epididymitis inflammatory disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0004780 MONDO:0004781 False strictly posterior acute myocardial infarction acute myocardial infarction UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004781 MONDO:0020683 False acute myocardial infarction acute disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0004782 MONDO:0005240 False diabetes insipidus kidney disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004784 MONDO:0000771 False allergic asthma allergic respiratory disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004784 MONDO:0004979 False allergic asthma asthma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004785 MONDO:0003382 False blepharitis eyelid disorder UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004785 MONDO:0021166 False blepharitis inflammatory disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004789 MONDO:0006322 False cholangitis non-neoplastic bile duct disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0004789 MONDO:0021166 False cholangitis inflammatory disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0004790 MONDO:0005154 False fatty liver disease liver disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004792 MONDO:0002158 False cancer of isthmus of fallopian tube fallopian tube cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004795 MONDO:0021666 False otitis externa ear infection UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0004794 MONDO:0004768 False exposure keratitis keratoconjunctivitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004795 MONDO:0021669 False otitis externa post-infectious disorder UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004796 MONDO:0021108 False infectious meningitis meningitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004796 MONDO:0024619 False infectious meningitis central nervous system infectious disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0004797 MONDO:0002121 False mononeuritis of lower limb mononeuritis simplex UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004799 MONDO:0004785 False ulcerative blepharitis blepharitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004800 MONDO:0004804 False chronic dacryoadenitis dacryoadenitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004801 MONDO:0002467 False unilateral hypoactive labyrinth inner ear disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004802 MONDO:0015691 False pulmonary eosinophilia hypereosinophilic syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004803 MONDO:0004603 False disseminated eosinophilic collagen disease collagenopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0004803 MONDO:0015691 False disseminated eosinophilic collagen disease hypereosinophilic syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004804 MONDO:0021166 False dacryoadenitis inflammatory disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0004804 MONDO:0024625 False dacryoadenitis disorder of lacrimal gland UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0004805 MONDO:0005046 False leukocyte disorder immune system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004805 MONDO:0005570 False leukocyte disorder hematologic disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004808 MONDO:0002051 False benign mammary dysplasia integumentary system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004808 MONDO:0002657 False benign mammary dysplasia breast disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004810 MONDO:0005756 False acute ethmoiditis ethmoid sinusitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004810 MONDO:0020683 False acute ethmoiditis acute disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0004811 MONDO:0002314 False simple chronic conjunctivitis chronic conjunctivitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004812 MONDO:0004804 False acute dacryoadenitis dacryoadenitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004812 MONDO:0020683 False acute dacryoadenitis acute disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0004813 MONDO:0002076 False tuberculous pneumothorax pneumothorax UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004819 MONDO:0005235 False indolent plasma cell myeloma smoldering plasma cell myeloma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004821 MONDO:0020592 False nasopharyngeal disorder disorder of pharynx UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0004821 MONDO:0004867 False nasopharyngeal disorder upper respiratory tract disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004822 MONDO:0001358 False bronchiectasis bronchial disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004822 MONDO:0003847 False bronchiectasis hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004822 MONDO:0005002 False bronchiectasis chronic obstructive pulmonary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS +MONDO:0004826 MONDO:0004184 False urethral calculus urethral disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004826 MONDO:0004828 False urethral calculus lower urinary tract calculus UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004829 MONDO:0002752 False Krukenberg carcinoma ovarian adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004830 MONDO:0002081 False fasciitis musculoskeletal system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004830 MONDO:0003900 False fasciitis connective tissue disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004830 MONDO:0021166 False fasciitis inflammatory disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004842 MONDO:0020579 False stomatitis mucositis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0004831 MONDO:0004830 False proliferative fasciitis fasciitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004833 MONDO:0004830 False plantar fasciitis fasciitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004838 MONDO:0005240 False orthostatic proteinuria kidney disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004840 MONDO:0002473 False non-congenital cyst of kidney cystic kidney disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004842 MONDO:0044992 False stomatitis mouth mucosa disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004844 MONDO:0043243 False oral mucosa leukoplakia leukoplakia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0004843 MONDO:0001584 False pathologic nystagmus ocular motility disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004844 MONDO:0044992 False oral mucosa leukoplakia mouth mucosa disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0004845 MONDO:0004842 False aphthous stomatitis stomatitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004851 MONDO:0002815 False toxic myocarditis acute myocarditis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004852 MONDO:0004853 False gonococcal keratitis gonococcal endophthalmia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004852 MONDO:0021201 False gonococcal keratitis skin infection UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0004852 MONDO:0023865 False gonococcal keratitis corneal infection UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0004852 MONDO:0024295 False gonococcal keratitis skin disease caused by bacterial infection UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0004853 MONDO:0004277 False gonococcal endophthalmia gonorrhea UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004853 MONDO:0016047 False gonococcal endophthalmia endophthalmitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004854 MONDO:0015455 False ophthalmia neonatorum gonococcal conjunctivitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0004855 MONDO:0004857 False tenosynovitis tendinitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004855 MONDO:0006816 False tenosynovitis arthropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004855 MONDO:0024876 False tenosynovitis tendon sheath disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0004856 MONDO:0003799 False rosacea conjunctivitis conjunctivitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004857 MONDO:0021167 False tendinitis myositis disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004857 MONDO:0100010 False tendinitis tendinopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0004860 MONDO:0044137 False vitreous disorder vitreous body disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0004861 MONDO:0005328 False ophthalmia nodosa eye disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004862 MONDO:0004860 False vitreous abscess vitreous disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004862 MONDO:0004863 False vitreous abscess purulent endophthalmitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004862 MONDO:0005227 False vitreous abscess abscess UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0004863 MONDO:0016047 False purulent endophthalmitis endophthalmitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004864 MONDO:0004865 False acute allergic mucoid otitis media blue drum syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004865 MONDO:0002738 False blue drum syndrome acute transudative otitis media UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004867 MONDO:0005087 False upper respiratory tract disorder respiratory system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004868 MONDO:0002515 False biliary tract disorder hepatobiliary disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004869 MONDO:0008638 False pelvic varices varicose disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004871 MONDO:0004872 False perianal hematoma hemorrhoid UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004872 MONDO:0004869 False hemorrhoid pelvic varices UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004874 MONDO:0006816 False ganglion or cyst of synovium/tendon/bursa arthropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004876 MONDO:0005068 False myocardial stunning myocardial infarction UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004877 MONDO:0024277 False transient neonatal thrombocytopenia neonatal thrombocytopenia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0004878 MONDO:0004379 False female breast upper-outer quadrant cancer female breast carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004879 MONDO:0004885 False senile atrophy of choroid choroidal sclerosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004880 MONDO:0005020 False bowel dysfunction intestinal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004882 MONDO:0004885 False angioid streaks of choroid choroidal sclerosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004882 MONDO:0011782 False angioid streaks of choroid angioid streaks UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004882 MONDO:0024237 False angioid streaks of choroid inherited neurodegenerative disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0004883 MONDO:0004885 False hereditary choroidal atrophy choroidal sclerosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004884 MONDO:0005328 False eye degenerative disorder eye disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004884 MONDO:0005559 False eye degenerative disorder neurodegenerative disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004885 MONDO:0001898 False choroidal sclerosis optic choroid disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004885 MONDO:0004884 False choroidal sclerosis eye degenerative disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004885 MONDO:0043218 False choroidal sclerosis neurovascular disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0004886 MONDO:0004885 False diffuse secondary choroid atrophy choroidal sclerosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004888 MONDO:0004883 False partial circumpapillary choroid dystrophy hereditary choroidal atrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004889 MONDO:0008982 False total central choroidal atrophy central areolar choroidal dystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0004889 MONDO:0010557 False total central choroidal atrophy choroideremia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004890 MONDO:0008982 False partial central choroid dystrophy central areolar choroidal dystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0004891 MONDO:0004892 False hyperopia refractive error UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004892 MONDO:0005328 False refractive error eye disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004894 MONDO:0003432 False cyclotropia strabismus UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004895 MONDO:0004896 False accommodative esotropia esotropia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004898 MONDO:0004883 False total circumpapillary dystrophy of choroid hereditary choroidal atrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004899 MONDO:0003432 False monofixation syndrome strabismus UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004900 MONDO:0002643 False peripheral vertigo vestibular disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004901 MONDO:0005395 False lingual-facial-buccal dyskinesia movement disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004902 MONDO:0003900 False interstitial keratitis connective tissue disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004902 MONDO:0004903 False interstitial keratitis deep keratitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004905 MONDO:0020598 False intestinal disaccharidase deficiency malabsorption syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0004903 MONDO:0003085 False deep keratitis keratitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004904 MONDO:0002175 False toxic maculopathy degeneration of macula and posterior pole UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004905 MONDO:0037792 False intestinal disaccharidase deficiency carbohydrate metabolism disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0004907 MONDO:0019278 False alopecia hair anomaly UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0004909 MONDO:0004184 False urethral gland abscess urethral disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004911 MONDO:0004497 False cardiovascular syphilis tertiary syphilis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004913 MONDO:0004896 False alternating esotropia esotropia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004914 MONDO:0000473 False celiac artery stenosis from compression by median arcuate ligament of diaphragm arterial disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004914 MONDO:0002254 False celiac artery stenosis from compression by median arcuate ligament of diaphragm syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004914 MONDO:0003847 False celiac artery stenosis from compression by median arcuate ligament of diaphragm hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004917 MONDO:0005800 False internal hordeolum hordeolum UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004917 MONDO:0006607 False internal hordeolum sebaceous gland disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004917 MONDO:0024481 False internal hordeolum skin appendage disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0004918 MONDO:0004577 False central corneal ulcer corneal ulcer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004919 MONDO:0004920 False infected hydrocele hydrocele UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004920 MONDO:0003150 False hydrocele male reproductive system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004922 MONDO:0000592 False developmental coordination disorder specific developmental disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004923 MONDO:0001854 False chronic inflammation of lacrimal passage lacrimal apparatus disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004923 MONDO:0021166 False chronic inflammation of lacrimal passage inflammatory disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0004924 MONDO:0004923 False chronic canaliculitis chronic inflammation of lacrimal passage UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004924 MONDO:0005631 False chronic canaliculitis actinomycosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004924 MONDO:0043885 False chronic canaliculitis eye infectious disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0004925 MONDO:0004923 False chronic dacryocystitis chronic inflammation of lacrimal passage UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004925 MONDO:0004926 False chronic dacryocystitis dacryocystitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004926 MONDO:0021166 False dacryocystitis inflammatory disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0004926 MONDO:0044984 False dacryocystitis nasolacrimal duct disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004933 MONDO:0002254 False hypoplastic left heart syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004927 MONDO:0004923 False dacryocystocele chronic inflammation of lacrimal passage UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004928 MONDO:0005833 False lymph node disorder lymphatic system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004929 MONDO:0004751 False constant exophthalmos disease of orbital part of eye adnexa UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004930 MONDO:0005041 False steroid-induced glaucoma glaucoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004931 MONDO:0004930 False residual stage corticosteroid-induced glaucoma steroid-induced glaucoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004932 MONDO:0004967 False null-cell leukemia acute lymphoblastic leukemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004933 MONDO:0003847 False hypoplastic left heart syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004933 MONDO:0005453 False hypoplastic left heart syndrome congenital heart disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004933 MONDO:0005584 False hypoplastic left heart syndrome congenital left-sided heart lesions UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0004933 MONDO:0019820 False hypoplastic left heart syndrome univentricular cardiopathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0004934 MONDO:0003900 False periostitis connective tissue disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004934 MONDO:0005381 False periostitis bone disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004934 MONDO:0021166 False periostitis inflammatory disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0004936 MONDO:0002654 False uterine inversion uterine disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004937 MONDO:0003916 False hypervitaminosis D overnutrition UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004938 MONDO:0002494 False substance dependence substance-related disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004940 MONDO:0020683 False acute female pelvic peritonitis acute disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0004941 MONDO:0015691 False eosinophilia-myalgia syndrome hypereosinophilic syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004944 MONDO:0004497 False neurosyphilis tertiary syphilis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004946 MONDO:0002908 False hypoglycemia glucose metabolism disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004947 MONDO:0004967 False B-cell acute lymphoblastic leukemia acute lymphoblastic leukemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004947 MONDO:0015759 False B-cell acute lymphoblastic leukemia B-cell non-Hodgkin lymphoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0004948 MONDO:0004967 False B-cell chronic lymphocytic leukemia acute lymphoblastic leukemia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004948 MONDO:0017594 False B-cell chronic lymphocytic leukemia indolent B-cell non-Hodgkin lymphoma UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0004951 MONDO:0015979 False susceptibility to HIV infection hereditary predisposition to infections UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0004952 MONDO:0017343 False Hodgkins lymphoma Epstein-Barr virus-associated malignant lymphoproliferative disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0004957 MONDO:0020596 False mucinous adenocarcinoma mucin-producing carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0004960 MONDO:0005570 False monoclonal gammopathy hematologic disorder UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0004966 MONDO:0021166 False gastritis inflammatory disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0004967 MONDO:0005168 False acute lymphoblastic leukemia neoplasm of immature B and T cells UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0004967 MONDO:0018908 False acute lymphoblastic leukemia non-Hodgkin lymphoma UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004971 MONDO:0004970 False adenoid cystic carcinoma adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004973 MONDO:0056806 False adenosquamous lung carcinoma non-small cell squamous lung carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004975 MONDO:0001627 False Alzheimer disease dementia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004975 MONDO:0005574 False Alzheimer disease tauopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004976 MONDO:0003182 False amyotrophic lateral sclerosis anterior horn disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004979 MONDO:0001358 False asthma bronchial disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004980 MONDO:0005271 False atopic eczema allergic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004980 MONDO:0100118 False atopic eczema hereditary skin disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004981 MONDO:0007263 False atrial fibrillation cardiac rhythm disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0004982 MONDO:0021166 False pancreatitis inflammatory disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0004983 MONDO:0003847 False spermatogenic failure hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004983 MONDO:0005372 False spermatogenic failure male infertility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004984 MONDO:0004953 False basal-like breast carcinoma invasive ductal breast carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0004984 MONDO:0005494 False basal-like breast carcinoma triple-negative breast carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0004988 MONDO:0000653 False breast adenocarcinoma integumentary system cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004990 MONDO:0006116 False breast tumor luminal A or B breast carcinoma by gene expression profile UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0004994 MONDO:0003939 False cardiomyopathy muscle tissue disorder UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004995 MONDO:0700096 False cardiovascular disorder human disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005001 MONDO:0004966 False chronic gastritis gastritis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0005002 MONDO:0002267 False chronic obstructive pulmonary disease obstructive lung disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0005002 MONDO:0002567 False chronic obstructive pulmonary disease tracheal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0005003 MONDO:0004982 False chronic pancreatitis pancreatitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005005 MONDO:0007763 False clear cell renal carcinoma nonpapillary renal cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0005006 MONDO:0002926 False clear cell sarcoma of kidney clear cell sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0005009 MONDO:0005252 False congestive heart failure heart failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005010 MONDO:0005267 False coronary artery disorder heart disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0005010 MONDO:0000473 False coronary artery disorder arterial disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0005013 MONDO:0000515 False dedifferentiated chondrosarcoma bone chondrosarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0005015 MONDO:0001933 False diabetes mellitus endocrine pancreas disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0005016 MONDO:0005066 False diabetic kidney disease metabolic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005016 MONDO:0005300 False diabetic kidney disease chronic kidney disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0005019 MONDO:0005100 False diffuse scleroderma systemic sclerosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0005021 MONDO:0000591 False dilated cardiomyopathy intrinsic cardiomyopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0005025 MONDO:0000470 False endocarditis endocardium disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0005025 MONDO:0024636 False endocarditis inflammation of heart layer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005026 MONDO:0001416 False endometrioid adenocarcinoma female reproductive organ cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005029 MONDO:0002249 False essential thrombocythemia thrombocytosis disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0005030 MONDO:0005917 False fetal growth restriction placenta disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005033 MONDO:0000640 False ganglioneuroma central nervous system primitive neuroectodermal neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0005033 MONDO:0006316 False ganglioneuroma neuroblastic tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0005033 MONDO:0016729 False ganglioneuroma mixed neuronal-glial tumor UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005033 MONDO:0021089 False ganglioneuroma peripheral nervous system cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005033 MONDO:0044993 False ganglioneuroma sympathetic nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005037 MONDO:0005814 False gastric intestinal type adenocarcinoma intestinal cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005039 MONDO:0700096 False reproductive system disorder human disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005043 MONDO:0045024 False hyperplasia cancer or benign tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0005043 MONDO:0045024 False hyperplasia cell proliferation disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0005044 MONDO:0000473 False hypertensive disorder arterial disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0005045 MONDO:0000591 False hypertrophic cardiomyopathy intrinsic cardiomyopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0005046 MONDO:0700096 False immune system disorder human disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0005047 MONDO:0005039 False infertility disorder reproductive system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0005050 MONDO:0004953 False invasive ductal and lobular carcinoma invasive ductal breast carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005052 MONDO:0002254 False irritable bowel syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0005053 MONDO:0005385 False ischemic disease vascular disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0005055 MONDO:0005108 False Kaposi's sarcoma viral infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0005055 MONDO:0015157 False Kaposi's sarcoma human herpesvirus 8-related tumor UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005055 MONDO:0016982 False Kaposi's sarcoma angiosarcoma UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0005058 MONDO:0017345 False leiomyosarcoma Epstein-Barr virus-associated mesenchymal tumor UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0005058 MONDO:0018078 False leiomyosarcoma soft tissue sarcoma UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005060 MONDO:0002813 False liposarcoma lipomatous cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005065 MONDO:0006856 False mesothelioma mesothelial neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0005060 MONDO:0018078 False liposarcoma soft tissue sarcoma UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0005062 MONDO:0015757 False lymphoma lymphoid hemopathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005066 MONDO:0700096 False metabolic disease human disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005068 MONDO:0024643 False myocardial infarction myocardial disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005070 MONDO:0023370 False neoplasm neoplastic disease or syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005071 MONDO:0700096 False nervous system disorder human disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005072 MONDO:0021635 False neuroblastoma neurocristopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -20453,38 +13833,44 @@ MONDO:0005073 MONDO:0021583 False melanocytic nevus melanocytic skin neoplasm UN MONDO:0005076 MONDO:0021166 False periodontitis inflammatory disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005077 MONDO:0005087 False pertussis respiratory system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0005077 MONDO:0037872 False pertussis bordetellosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005079 MONDO:0045024 False polyp cancer or benign tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0005079 MONDO:0045024 False polyp cell proliferation disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0005080 MONDO:0002405 False portal hypertension hepatic vascular disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0005081 MONDO:0003847 False preeclampsia hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0005081 MONDO:0045048 False preeclampsia toxemia of pregnancy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005083 MONDO:0002406 False psoriasis dermatitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0005083 MONDO:0005046 False psoriasis immune system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0005083 MONDO:0100118 False psoriasis hereditary skin disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005084 MONDO:0002025 False mental disorder psychiatric disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005084 MONDO:0005560 False mental disorder brain disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005085 MONDO:0021452 False pterygium benign neoplasm of cornea UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005086 MONDO:0004970 False renal cell carcinoma adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0005086 MONDO:0005206 False renal cell carcinoma renal carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0005087 MONDO:0700096 False respiratory system disorder human disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0005090 MONDO:0005485 False schizophrenia psychotic disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0005091 MONDO:0005087 False severe acute respiratory syndrome respiratory system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0005091 MONDO:0020683 False severe acute respiratory syndrome acute disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0005091 MONDO:0020753 False severe acute respiratory syndrome Orthocoronavirinae infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0005093 MONDO:0002051 False skin disorder integumentary system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0005095 MONDO:0005046 False spondyloarthropathy immune system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0005098 MONDO:0011057 False stroke disorder cerebrovascular disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005099 MONDO:0005560 False subarachnoid hemorrhage brain disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005099 MONDO:0043218 False subarachnoid hemorrhage neurovascular disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005100 MONDO:0005093 False systemic sclerosis skin disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0005101 MONDO:0005292 False ulcerative colitis colitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0005103 MONDO:0005060 False well-differentiated liposarcoma liposarcoma UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005109 MONDO:0021682 False HIV infectious disease viral sexually transmitted disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005109 MONDO:0022034 False HIV infectious disease lentivirus infection UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005110 MONDO:0004994 False idiopathic cardiomyopathy cardiomyopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005110 MONDO:0700007 False idiopathic cardiomyopathy idiopathic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005111 MONDO:0100329 False Epstein-Barr virus infection primary viral infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005114 MONDO:0021680 False pneumococcal infection streptococcal infection UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005115 MONDO:0017704 False temporal lobe epilepsy familial partial epilepsy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005116 MONDO:0005113 False Whipple disease bacterial infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0005116 MONDO:0005020 False Whipple disease intestinal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0005116 MONDO:0043424 False Whipple disease digestive system infectious disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005118 MONDO:0004805 False human granulocytic ehrlichiosis leukocyte disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0005118 MONDO:0025303 False human granulocytic ehrlichiosis anaplasmosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0005119 MONDO:0000314 False anthrax infection primary bacterial infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0005119 MONDO:0006923 False anthrax infection Bacillaceae infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005124 MONDO:0020590 False leprosy mycobacterial infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0005124 MONDO:0000314 False leprosy primary bacterial infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0005129 MONDO:0003847 False cataract hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0005130 MONDO:0000588 False celiac disease autoimmune disorder of gastrointestinal tract UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0005130 MONDO:0003847 False celiac disease hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0005130 MONDO:0020598 False celiac disease malabsorption syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005130 MONDO:0024635 False celiac disease small intestine disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005131 MONDO:0005213 False cervical carcinoma uterine carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005132 MONDO:0100329 False cytomegalovirus infection primary viral infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -20495,46 +13881,57 @@ MONDO:0005134 MONDO:0006704 False experimental autoimmune encephalomyelitis CNS MONDO:0005136 MONDO:0044347 False malaria erythrocyte disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005136 MONDO:0100120 False malaria vector-borne disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005137 MONDO:0700096 False nutritional disorder human disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0005139 MONDO:0011122 False morbid obesity obesity disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0005141 MONDO:0005113 False Pseudomonas infection bacterial infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005144 MONDO:0004976 False familial amyotrophic lateral sclerosis amyotrophic lateral sclerosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005144 MONDO:0024257 False familial amyotrophic lateral sclerosis hereditary motor neuron disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005146 MONDO:0005379 False post-traumatic stress disorder neurotic disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0005145 MONDO:0004976 False sporadic amyotrophic lateral sclerosis amyotrophic lateral sclerosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0005147 MONDO:0000569 False type 1 diabetes mellitus autoimmune disorder of endocrine system UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0005147 MONDO:0000588 False type 1 diabetes mellitus autoimmune disorder of gastrointestinal tract UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0005149 MONDO:0005044 False pulmonary hypertension hypertensive disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0005150 MONDO:0002175 False age-related macular degeneration degeneration of macula and posterior pole UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0005150 MONDO:0019118 False age-related macular degeneration inherited retinal dystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0005151 MONDO:0700096 False endocrine system disorder human disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0005152 MONDO:0003381 False hypopituitarism pituitary gland disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0005154 MONDO:0005151 False liver disorder endocrine system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0005156 MONDO:0021166 False encephalomyelitis inflammatory disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0005160 MONDO:0005561 False aortic aneurysm aortic disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0005161 MONDO:0100329 False human papilloma virus infection primary viral infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0005164 MONDO:0018078 False fibrosarcoma soft tissue sarcoma UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005172 MONDO:0002081 False skeletal system disorder musculoskeletal system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0005173 MONDO:0000611 False actinic keratosis pre-malignant neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0005173 MONDO:0002531 False actinic keratosis skin neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0005180 MONDO:0003847 False Parkinson disease hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0005180 MONDO:0021095 False Parkinson disease parkinsonian disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0005181 MONDO:0009637 False progressive external ophthalmoplegia inborn mitochondrial myopathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0005183 MONDO:0005179 False ovarian cystadenoma ovarian adenoma benign UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005185 MONDO:0008383 False chronic childhood arthritis rheumatoid arthritis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005187 MONDO:0100329 False human herpesvirus 8 infection primary viral infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005188 MONDO:0043544 False iatrogenic Kaposi's sarcoma nosocomial infection UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005189 MONDO:0011057 False internal carotid artery stenosis cerebrovascular disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0005190 MONDO:0002273 False macroglobulinemia plasma protein metabolism disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0005194 MONDO:0100329 False Rotavirus infection primary viral infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005197 MONDO:0002082 False thymus neoplasm endocrine gland neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005197 MONDO:0002334 False thymus neoplasm hematopoietic and lymphoid system neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005200 MONDO:0005021 False viral dilated cardiomyopathy dilated cardiomyopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005200 MONDO:0021674 False viral dilated cardiomyopathy post-viral disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0005201 MONDO:0000591 False restrictive cardiomyopathy intrinsic cardiomyopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0005202 MONDO:0005271 False atopic IgE-mediated allergic disorder allergic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005203 MONDO:0021178 False ischemia reperfusion injury injury UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005204 MONDO:8000010 False primary antiphospholipid syndrome antiphospholipid syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005207 MONDO:0005040 False choriocarcinoma germ cell tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0005210 MONDO:0006003 False uterine corpus sarcoma uterine corpus cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0005212 MONDO:0018078 False rhabdomyosarcoma soft tissue sarcoma UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005213 MONDO:0002715 False uterine carcinoma uterine cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005213 MONDO:0004993 False uterine carcinoma carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005217 MONDO:0003847 False familial cardiomyopathy hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005217 MONDO:0004994 False familial cardiomyopathy cardiomyopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005227 MONDO:0005550 False abscess infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0005220 MONDO:0005086 False collecting duct carcinoma renal cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0005229 MONDO:0005113 False bacterial infectious disease with sepsis bacterial infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0005230 MONDO:0006617 False cellulitis vesiculobullous skin disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0005230 MONDO:0024295 False cellulitis skin disease caused by bacterial infection UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005231 MONDO:0006011 False hepatitis C virus infection viral hepatitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0005236 MONDO:0005066 False xanthoma metabolic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005238 MONDO:0020561 False round cell liposarcoma myxoid/round cell liposarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005242 MONDO:0005113 False empyema bacterial infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005244 MONDO:0019056 False peripheral neuropathy neuromuscular disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0005246 MONDO:0002614 False osteomyelitis bone inflammation disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0005246 MONDO:0003225 False osteomyelitis bone marrow disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0005247 MONDO:0005113 False bacterial urinary tract infection bacterial infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005247 MONDO:0100338 False bacterial urinary tract infection urinary tract infection UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -20542,60 +13939,67 @@ MONDO:0005249 MONDO:0024355 False pneumonia respiratory tract infectious disorde MONDO:0005249 MONDO:0043905 False pneumonia pneumonitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005250 MONDO:0021166 False placental villitis inflammatory disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005250 MONDO:0045013 False placental villitis disorder of extraembryonic membrane UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005252 MONDO:0005267 False heart failure heart disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005253 MONDO:0005252 False high output heart failure heart failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005262 MONDO:0005560 False central nervous system cyst brain disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005265 MONDO:0003847 False inflammatory bowel disease hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0005265 MONDO:0005046 False inflammatory bowel disease immune system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0005266 MONDO:0005066 False diabetic retinopathy metabolic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0005271 MONDO:0000605 False allergic disease hypersensitivity reaction disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0005269 MONDO:0000473 False carotid artery disorder arterial disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0005269 MONDO:0011057 False carotid artery disorder cerebrovascular disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0005275 MONDO:0000270 False lung disorder lower respiratory tract disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0005276 MONDO:0002220 False dental caries tooth hard tissue disease UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0005277 MONDO:0005560 False migraine disorder brain disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0005277 MONDO:0017181 False migraine disorder hypnic headache UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005277 MONDO:0043218 False migraine disorder neurovascular disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0005279 MONDO:0000473 False pulmonary embolism arterial disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0005280 MONDO:0021166 False prostatitis inflammatory disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005281 MONDO:0002515 False gallbladder disorder hepatobiliary disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0005283 MONDO:0005071 False retinal disorder nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0005284 MONDO:0005301 False chronic progressive multiple sclerosis multiple sclerosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005287 MONDO:0005071 False developmental disability nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005288 MONDO:0005020 False intestinal polyp intestinal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005288 MONDO:0005079 False intestinal polyp polyp UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005289 MONDO:0024653 False paranasal sinus neoplasm skull neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0005291 MONDO:0006693 False brain aneurysm cerebral arterial disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0005292 MONDO:0002269 False colitis gastroenteritis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0005292 MONDO:0003409 False colitis colonic disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0005292 MONDO:0005265 False colitis inflammatory bowel disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0005293 MONDO:0005172 False flatfoot skeletal system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0005295 MONDO:0002277 False intermittent vascular claudication arteriosclerosis disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0005295 MONDO:0005294 False intermittent vascular claudication peripheral vascular disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0005296 MONDO:0005087 False sleep apnea syndrome respiratory system disorder UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0005297 MONDO:0005247 False urethritis bacterial urinary tract infection UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005297 MONDO:0021166 False urethritis inflammatory disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0005298 MONDO:0000837 False osteoporosis bone resorption disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0005298 MONDO:0800064 False osteoporosis osteogenesis imperfecta and a reduction of bone mineral density. UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0005299 MONDO:0005053 False brain ischemia ischemic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0005301 MONDO:0000568 False multiple sclerosis autoimmune disorder of central nervous system UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0005301 MONDO:0002562 False multiple sclerosis demyelinating disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0005301 MONDO:0005560 False multiple sclerosis brain disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0005301 MONDO:0006704 False multiple sclerosis CNS demyelinating autoimmune disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005302 MONDO:0007743 False attention deficit hyperactivity disorder, inattentive type attention deficit-hyperactivity disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0005304 MONDO:0004868 False biliary tract neoplasm biliary tract disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0005304 MONDO:0024477 False biliary tract neoplasm liver and intrahepatic bile duct neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0005306 MONDO:0003937 False ankylosing spondylitis spondylitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0005306 MONDO:0005095 False ankylosing spondylitis spondyloarthropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0005306 MONDO:0008383 False ankylosing spondylitis rheumatoid arthritis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0005306 MONDO:0037847 False ankylosing spondylitis vertebral joint disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0005308 MONDO:0003847 False ciliopathy hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0005309 MONDO:0005315 False spinal fracture bone fracture UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005309 MONDO:0037747 False spinal fracture spinal injury UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005310 MONDO:0005479 False atrial flutter atrial tachycardia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005312 MONDO:0024635 False pouchitis small intestine disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005313 MONDO:0005020 False necrotizing enterocolitis intestinal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005313 MONDO:0009172 False necrotizing enterocolitis enterocolitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005315 MONDO:0021178 False bone fracture injury UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005316 MONDO:0006706 False bacterial vaginosis Bifidobacteriales infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005316 MONDO:0023557 False bacterial vaginosis infective vaginitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005318 MONDO:0004842 False canker sore stomatitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005319 MONDO:0005315 False humerus fracture bone fracture UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005320 MONDO:0005315 False tibia fracture bone fracture UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0005321 MONDO:0000766 False Fuchs' endothelial dystrophy corneal endothelial dystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0005321 MONDO:0003847 False Fuchs' endothelial dystrophy hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0005321 MONDO:0020214 False Fuchs' endothelial dystrophy posterior corneal dystrophy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005322 MONDO:0005315 False ulna fracture bone fracture UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005323 MONDO:0005113 False bacterial sexually transmitted disease bacterial infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005323 MONDO:0021681 False bacterial sexually transmitted disease sexually transmitted disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005324 MONDO:0011786 False seasonal allergic rhinitis allergic rhinitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005325 MONDO:0005315 False radius fracture bone fracture UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005326 MONDO:0005093 False sunburn skin disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005327 MONDO:0005315 False hip fracture bone fracture UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005328 MONDO:0002022 False eye disorder disorder of orbital region UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005328 MONDO:0024458 False eye disorder disorder of visual system UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0005333 MONDO:0003240 False hyperthyroxinemia thyroid gland disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0005334 MONDO:0001166 False hereditary nephritis nephritis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005334 MONDO:0100191 False hereditary nephritis inherited kidney disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005335 MONDO:0024634 False colorectal neoplasm large intestine disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -20605,98 +14009,121 @@ MONDO:0005340 MONDO:0004907 False alopecia areata alopecia UNSUPPORTED-MISSING U MONDO:0005341 MONDO:0002529 False skin basal cell carcinoma skin squamous cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0005342 MONDO:0005334 False IgA glomerulonephritis hereditary nephritis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005344 MONDO:0005786 False hepatitis B virus infection Hepadnaviridae infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005344 MONDO:0006011 False hepatitis B virus infection viral hepatitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0005345 MONDO:0003847 False hypospadias hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0005345 MONDO:0005039 False hypospadias reproductive system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0005345 MONDO:0021147 False hypospadias disorder of development or morphogenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005346 MONDO:0005281 False gallstones gallbladder disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005347 MONDO:0005066 False hypertriglyceridemia metabolic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005348 MONDO:0006603 False keloid reactive cutaneous fibrous lesion UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0005349 MONDO:0002467 False otosclerosis inner ear disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0005349 MONDO:0018751 False otosclerosis hereditary otorhinolaryngologic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005349 MONDO:0037940 False otosclerosis inherited auditory system disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0005350 MONDO:0005160 False abdominal aortic aneurysm aortic aneurysm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0005352 MONDO:0000592 False conduct disorder specific developmental disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0005354 MONDO:0005231 False chronic hepatitis C virus infection hepatitis C virus infection UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0005355 MONDO:0006715 False coronary restenosis coronary stenosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0005356 MONDO:0005010 False coronary vasospasm coronary artery disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0005358 MONDO:0018087 False Dengue hemorrhagic fever viral hemorrhagic fever UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005359 MONDO:0005154 False drug-induced liver injury liver disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005361 MONDO:0018438 False eosinophilic esophagitis eosinophilic gastrointestinal disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005362 MONDO:0002036 False erectile dysfunction penile disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0005362 MONDO:0002134 False erectile dysfunction physiological sexual disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0005363 MONDO:0100191 False inherited focal segmental glomerulosclerosis inherited kidney disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005363 MONDO:0100313 False inherited focal segmental glomerulosclerosis focal segmental glomerulosclerosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005364 MONDO:0001104 False Graves disease toxic diffuse goiter UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0005364 MONDO:0005397 False Graves disease goiter UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0005364 MONDO:0005623 False Graves disease autoimmune thyroid disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005365 MONDO:0021945 False hearing loss disorder hearing disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005366 MONDO:0005344 False chronic hepatitis B virus infection hepatitis B virus infection UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0005367 MONDO:0005530 False heroin dependence opiate dependence UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0005371 MONDO:0005084 False mood disorder mental disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005372 MONDO:0005047 False male infertility infertility disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0005373 MONDO:0005113 False meningococcal infection bacterial infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005375 MONDO:0020641 False nasopharyngeal neoplasm respiratory tract neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005377 MONDO:0002254 False nephrotic syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0005377 MONDO:0002331 False nephrotic syndrome nephrosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0005380 MONDO:0005381 False osteonecrosis bone disorder UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0005381 MONDO:0005172 False bone disorder skeletal system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0005382 MONDO:0002185 False bone Paget disease hyperostosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0005382 MONDO:0003847 False bone Paget disease hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0005386 MONDO:0005294 False peripheral arterial disease peripheral vascular disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0005386 MONDO:0000473 False peripheral arterial disease arterial disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0005388 MONDO:0004868 False primary biliary cholangitis biliary tract disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0005388 MONDO:0007329 False primary biliary cholangitis cirrhosis, familial UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING -MONDO:0005393 MONDO:0005066 False gout metabolic disease UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0005392 MONDO:0000836 False scoliosis disease of bone structure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0005394 MONDO:0011057 False brain infarction cerebrovascular disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0005396 MONDO:0005160 False thoracic aortic aneurysm aortic aneurysm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0005398 MONDO:0005070 False upper aerodigestive tract neoplasm neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005399 MONDO:0005385 False venous thromboembolism vascular disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005401 MONDO:0003409 False colonic neoplasm colonic disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005404 MONDO:0003939 False myalgic encephalomeyelitis/chronic fatigue syndrome muscle tissue disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0005404 MONDO:0005071 False myalgic encephalomeyelitis/chronic fatigue syndrome nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0005404 MONDO:0021094 False myalgic encephalomeyelitis/chronic fatigue syndrome immunodeficiency disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0005405 MONDO:0004979 False childhood onset asthma asthma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0005406 MONDO:0024575 False gestational diabetes pregnancy disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005412 MONDO:0002866 False duodenal ulcer duodenal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0005416 MONDO:0005178 False osteoarthritis, knee osteoarthritis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005417 MONDO:0005150 False wet macular degeneration age-related macular degeneration UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0005429 MONDO:0024619 False prion disease central nervous system infectious disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0005424 MONDO:0019297 False elephantiasis lymphedema UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0005425 MONDO:0005424 False podoconiosis elephantiasis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0005433 MONDO:0005567 False alcohol withdrawal substance withdrawal syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005437 MONDO:0001967 False testicular dysgenesis syndrome gonadal dysgenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005437 MONDO:0002329 False testicular dysgenesis syndrome testicular disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005439 MONDO:0037748 False familial hypercholesterolemia hyperlipoproteinemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0005439 MONDO:0001336 False familial hypercholesterolemia familial hyperlipidemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0005440 MONDO:0003578 False embryonal carcinoma extragonadal nonseminomatous germ cell tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0005441 MONDO:0021166 False otitis media inflammatory disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005445 MONDO:0003847 False visceral leishmaniasis hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0005446 MONDO:0024610 False cutaneous leishmaniasis parasitic skin disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005451 MONDO:0005137 False eating disorder nutritional disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0005453 MONDO:0024239 False congenital heart disease congenital anomaly of cardiovascular system UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0005459 MONDO:0000940 False human African trypanosomiasis trypanosomiasis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0005459 MONDO:0100120 False human African trypanosomiasis vector-borne disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005463 MONDO:0003803 False aortic valve calcification aortic valve disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005464 MONDO:0008375 False rhegmatogenous retinal detachment retinal detachment UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005466 MONDO:0003406 False hypersomnia sleep-wake disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005467 MONDO:0100366 False occupation-related stress disorder occupational disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005468 MONDO:0000473 False hypotensive disorder arterial disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005469 MONDO:0005468 False orthostatic hypotension hypotensive disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005473 MONDO:0006816 False temporomandibular joint disorder arthropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005477 MONDO:0007263 False ventricular tachycardia cardiac rhythm disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005478 MONDO:0005477 False torsades de pointes ventricular tachycardia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005479 MONDO:0007263 False atrial tachycardia cardiac rhythm disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005481 MONDO:0005480 False contact dermatitis due to nickel contact dermatitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005483 MONDO:0004907 False chemotherapy-induced alopecia alopecia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0005485 MONDO:0002039 False psychotic disorder cognitive disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0005485 MONDO:0005084 False psychotic disorder mental disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005486 MONDO:0003847 False tooth agenesis hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0005486 MONDO:0006999 False tooth agenesis tooth disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0005487 MONDO:0005485 False schizoaffective disorder psychotic disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0005488 MONDO:0000726 False adolescent idiopathic scoliosis idiopathic scoliosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0005489 MONDO:0001697 False dyslexia reading disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0005491 MONDO:0004994 False Chagas cardiomyopathy cardiomyopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005491 MONDO:0021669 False Chagas cardiomyopathy post-infectious disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005492 MONDO:0002406 False urticaria dermatitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0005494 MONDO:0000616 False triple-negative breast carcinoma progesterone-receptor negative breast cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0005494 MONDO:0000618 False triple-negative breast carcinoma Her2-receptor negative breast cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0005494 MONDO:0006513 False triple-negative breast carcinoma estrogen-receptor negative breast cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0005495 MONDO:0005151 False adrenal gland disorder endocrine system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0005496 MONDO:0003059 False bile duct carcinoma bile duct cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0005496 MONDO:0018531 False bile duct carcinoma carcinoma of liver and intrahepatic biliary tract UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0005497 MONDO:0005381 False bone development disease bone disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0005497 MONDO:0021147 False bone development disease disorder of development or morphogenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0005498 MONDO:0000314 False botulism primary bacterial infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0005498 MONDO:0024388 False botulism Clostridium infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0005499 MONDO:0001657 False brain glioma brain cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0005499 MONDO:0100342 False brain glioma malignant glioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0005500 MONDO:0015286 False congenital disorder of glycosylation type I congenital disorder of glycosylation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0005501 MONDO:0015286 False congenital disorder of glycosylation type II congenital disorder of glycosylation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0005502 MONDO:0005763 False dengue disease Flaviviridae infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005502 MONDO:0100120 False dengue disease vector-borne disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005503 MONDO:0005084 False developmental disorder of mental health mental disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0005504 MONDO:0000314 False diphtheria primary bacterial infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0005507 MONDO:0002129 False gingival cancer bone cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0005508 MONDO:0015356 False hereditary multiple osteochondromas hereditary neoplastic syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005508 MONDO:0023603 False hereditary multiple osteochondromas hereditary disorder of connective tissue UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0005508 MONDO:0019060 False hereditary multiple osteochondromas bone neoplasm UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005510 MONDO:0005240 False hydronephrosis kidney disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0005511 MONDO:0015974 False janus kinase-3 deficiency severe combined immunodeficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0005514 MONDO:0003847 False nanophthalmia hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0005514 MONDO:0016764 False nanophthalmia isolated anophthalmia-microphthalmia syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0005514 MONDO:0021129 False nanophthalmia microphthalmia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0005515 MONDO:0002516 False oral cavity cancer digestive system cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0005516 MONDO:0005497 False osteochondrodysplasia bone development disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0005517 MONDO:0000376 False pharynx cancer respiratory system cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0005517 MONDO:0002516 False pharynx cancer digestive system cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0005520 MONDO:0000833 False rickets bone remodeling disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0005523 MONDO:0002525 False steroid inherited metabolic disorder inherited lipid metabolism disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0005525 MONDO:0004805 False T-cell leukemia leukocyte disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005525 MONDO:0005402 False T-cell leukemia lymphoid leukemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0005526 MONDO:0000314 False tetanus primary bacterial infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0005526 MONDO:0020010 False tetanus infectious disorder of the nervous system UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005526 MONDO:0024388 False tetanus Clostridium infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0005528 MONDO:0019052 False inborn vitamin metabolic disorder inborn errors of metabolism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0005528 MONDO:0024298 False inborn vitamin metabolic disorder vitamin deficiency disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0005530 MONDO:0005303 False opiate dependence drug dependence UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0005531 MONDO:0005530 False morphine dependence opiate dependence UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0005532 MONDO:0024634 False Crohn's colitis large intestine disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005533 MONDO:0005101 False distal colitis ulcerative colitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005534 MONDO:0000709 False ileocolitis Crohn ileitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS @@ -20706,38 +14133,38 @@ MONDO:0005535 MONDO:0006858 False oral Crohn disease mouth disorder UNSUPPORTED- MONDO:0005537 MONDO:0002269 False perianal Crohn disease gastroenteritis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005537 MONDO:0005011 False perianal Crohn disease Crohn disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005537 MONDO:0024634 False perianal Crohn disease large intestine disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005538 MONDO:0002519 False proctitis anus disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0005538 MONDO:0005265 False proctitis inflammatory bowel disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0005538 MONDO:0021166 False proctitis inflammatory disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0005541 MONDO:0000836 False spondylolysis disease of bone structure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0005541 MONDO:0045002 False spondylolysis vertebral disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005542 MONDO:0002254 False acute coronary syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005542 MONDO:0020683 False acute coronary syndrome acute disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005542 MONDO:0024644 False acute coronary syndrome myocardial ischemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005545 MONDO:0024313 False staphylococcus aureus infection staphylococcal infection UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0005543 MONDO:0016264 False autoimmune hepatitis type 1 autoimmune hepatitis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005546 MONDO:0024317 False fibromyalgia chronic pain syndrome UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005546 MONDO:0700007 False fibromyalgia idiopathic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005549 MONDO:0005086 False renal cell adenocarcinoma renal cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005550 MONDO:0700096 False infectious disease human disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005552 MONDO:0005328 False ocular vascular disorder eye disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005552 MONDO:0005385 False ocular vascular disorder vascular disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0005554 MONDO:0003900 False rheumatic disorder connective tissue disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0005555 MONDO:0000926 False cycloplegia eye accommodation disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0005557 MONDO:0000226 False calcium metabolic disease mineral metabolism disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0005558 MONDO:0002259 False ovarian disorder gonadal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0005563 MONDO:0005617 False nut midline carcinoma undifferentiated carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005567 MONDO:0002254 False substance withdrawal syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0005565 MONDO:0004992 False blastoma cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0005567 MONDO:0002494 False substance withdrawal syndrome substance-related disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0005568 MONDO:0005385 False cholesterol embolism vascular disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0005570 MONDO:0700096 False hematologic disorder human disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0005571 MONDO:0003225 False polycythemia bone marrow disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0005572 MONDO:0016541 False polycythemia due to hypoxia acquired secondary polycythemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0005574 MONDO:0005559 False tauopathy neurodegenerative disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0005576 MONDO:0002459 False cryoglobulinemia type IV hypersensitivity disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0005576 MONDO:0007179 False cryoglobulinemia autoimmune disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0005578 MONDO:0006816 False arthritic joint disease arthropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0005578 MONDO:0002614 False arthritic joint disease bone inflammation disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0005578 MONDO:0021166 False arthritic joint disease inflammatory disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005579 MONDO:0015653 False epilepsy, idiopathic generalized monogenic epilepsy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005579 MONDO:0700007 False epilepsy, idiopathic generalized idiopathic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005582 MONDO:0005451 False binge eating disorder eating disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005583 MONDO:0000001 False non-human animal disease disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005593 MONDO:0005076 False chronic periodontitis periodontitis UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005594 MONDO:0005093 False severe cutaneous adverse reaction skin disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005607 MONDO:0003781 False chronic bronchitis bronchitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005607 MONDO:0005002 False chronic bronchitis chronic obstructive pulmonary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005608 MONDO:0100329 False varicella zoster infection primary viral infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005609 MONDO:0005608 False herpes zoster varicella zoster infection UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005609 MONDO:0006617 False herpes zoster vesiculobullous skin disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0005609 MONDO:0021674 False herpes zoster post-viral disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005609 MONDO:0024294 False herpes zoster skin disorder caused by infection UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -20746,6 +14173,8 @@ MONDO:0005610 MONDO:0005516 False Kashin-Beck disease osteochondrodysplasia UNSU MONDO:0005614 MONDO:0018521 False pancreatic adenosquamous carcinoma squamous cell carcinoma of pancreas UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0005616 MONDO:0027772 False pulmonary mucoepidermoid carcinoma lung colloid adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0005618 MONDO:0005084 False anxiety disorder mental disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0005619 MONDO:0000827 False typhoid fever salmonellosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0005620 MONDO:0018634 False cerebral amyloid angiopathy hereditary amyloidosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005621 MONDO:0011057 False vascular brain injury cerebrovascular disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005621 MONDO:0043510 False vascular brain injury brain injury UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005623 MONDO:0000569 False autoimmune thyroid disease autoimmune disorder of endocrine system UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -20753,7 +14182,6 @@ MONDO:0005623 MONDO:0004126 False autoimmune thyroid disease thyroiditis UNSUPPO MONDO:0005624 MONDO:0005623 False atrophic thyroiditis autoimmune thyroid disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005625 MONDO:0005560 False cerebral malaria brain disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0005625 MONDO:0024619 False cerebral malaria central nervous system infectious disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005629 MONDO:0002428 False Acanthamoeba keratitis protozoa infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005629 MONDO:0021747 False Acanthamoeba keratitis Acanthamoeba infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005629 MONDO:0024315 False Acanthamoeba keratitis parasitic endophthalmitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005630 MONDO:0024913 False actinobacillosis cattle disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -20761,21 +14189,24 @@ MONDO:0005630 MONDO:0024950 False actinobacillosis horse disease UNSUPPORTED-MIS MONDO:0005630 MONDO:0024985 False actinobacillosis sheep disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005630 MONDO:0024990 False actinobacillosis swine disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005630 MONDO:0700059 False actinobacillosis Actinobacillus infectious disease, non-human animal UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0005631 MONDO:0000315 False actinomycosis commensal bacterial infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0005631 MONDO:0006921 False actinomycosis Actinomycetales infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005632 MONDO:0002254 False acute chest syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0005632 MONDO:0005275 False acute chest syndrome lung disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0005632 MONDO:0020683 False acute chest syndrome acute disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005634 MONDO:0001214 False acute hemorrhagic conjunctivitis acute conjunctivitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0005634 MONDO:0043541 False acute hemorrhagic conjunctivitis viral conjunctivitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005638 MONDO:0024417 False agnosia perceptual disorders UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005639 MONDO:0005109 False AIDS related complex HIV infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0005640 MONDO:0005560 False akinetic mutism brain disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0005641 MONDO:0025371 False aleutian mink disease Parvoviridae infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005641 MONDO:0100329 False aleutian mink disease primary viral infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0005642 MONDO:0002314 False atopic conjunctivitis chronic conjunctivitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0005642 MONDO:0005551 False atopic conjunctivitis eye allergy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005643 MONDO:0005985 False Alphavirus infectious disease Togaviridae infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005645 MONDO:0005973 False ancylostomiasis Strongylida infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005647 MONDO:0005161 False anogenital human papillomavirus infection human papilloma virus infection UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0005644 MONDO:0002428 False amebiasis protozoa infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0005645 MONDO:0005943 False ancylostomiasis Rhabditida infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005647 MONDO:0021682 False anogenital human papillomavirus infection viral sexually transmitted disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005648 MONDO:0020674 False aortic valve insufficiency vascular insufficiency disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0005649 MONDO:0002031 False appendicitis cecal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0005649 MONDO:0002269 False appendicitis gastroenteritis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0005649 MONDO:0056798 False appendicitis disorder of appendix UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0005650 MONDO:0100329 False Arenaviridae infectious disease primary viral infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -20785,19 +14216,26 @@ MONDO:0005652 MONDO:0005876 False Arterivirus infectious disease Nidovirales inf MONDO:0005654 MONDO:0005656 False ascariasis Ascaridida infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005655 MONDO:0005656 False ascaridiasis Ascaridida infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005656 MONDO:0005943 False Ascaridida infectious disease Rhabditida infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0005657 MONDO:0002312 False aspergillosis opportunistic mycosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0005658 MONDO:0100329 False Astroviridae infectious disease primary viral infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0005659 MONDO:0003014 False atrophic rhinitis rhinitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0005660 MONDO:0005896 False Avulavirus infectious disease Paramyxoviridae infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0005662 MONDO:0002428 False balantidiasis protozoa infectious disease UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0005662 MONDO:0005704 False balantidiasis Ciliophora infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005662 MONDO:0024270 False balantidiasis parasitic intestinal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005663 MONDO:0005071 False Barre-Lieou syndrome nervous system disorder UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0005664 MONDO:0000314 False bartonellosis primary bacterial infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0005664 MONDO:0006924 False bartonellosis Bartonellaceae infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0005665 MONDO:0001835 False Bell's palsy facial paralysis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0005667 MONDO:0002866 False biliary dyskinesia duodenal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0005667 MONDO:0002886 False biliary dyskinesia common bile duct disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0005667 MONDO:0005281 False biliary dyskinesia gallbladder disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0005668 MONDO:0022736 False bird fancier's lung occupational lung disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005669 MONDO:0000253 False black piedra piedra UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005671 MONDO:0005644 False Blastocystis infectious disease amebiasis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005671 MONDO:0024270 False Blastocystis infectious disease parasitic intestinal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005673 MONDO:0020598 False blind loop syndrome malabsorption syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0005672 MONDO:0000308 False blastomycosis primary systemic mycosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0005674 MONDO:0021054 False bone giant cell tumor bone sarcoma UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0005675 MONDO:0024985 False border disease sheep disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005676 MONDO:0005156 False borna disease encephalomyelitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0005676 MONDO:0005856 False borna disease Mononegavirales infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -20806,72 +14244,99 @@ MONDO:0005678 MONDO:0024913 False bovine respiratory disease complex cattle dise MONDO:0005678 MONDO:0700104 False bovine respiratory disease complex respiratory system disorder, non-human animal UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005679 MONDO:0024913 False bovine virus diarrhea-mucosal disease cattle disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005679 MONDO:0700203 False bovine virus diarrhea-mucosal disease pestivirus infectious disease, non-human animal UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0005680 MONDO:0019362 False Brill-Zinsser disease epidemic louse-borne typhus UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0005683 MONDO:0000314 False brucellosis primary bacterial infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0005684 MONDO:0000341 False bulbar polio paralytic poliomyelitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0005684 MONDO:0005560 False bulbar polio brain disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0005687 MONDO:0100329 False Caliciviridae infectious disease primary viral infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005688 MONDO:0000314 False campylobacteriosis primary bacterial infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0005688 MONDO:0002269 False campylobacteriosis gastroenteritis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0005688 MONDO:0043424 False campylobacteriosis digestive system infectious disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0005690 MONDO:0015926 False Caplan syndrome pneumoconiosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0005691 MONDO:0005914 False cardiovirus infectious disease Picornaviridae infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005692 MONDO:0002052 False cat-scratch disease lymphadenitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0005694 MONDO:0002031 False cecal neoplasm cecal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0005695 MONDO:0003346 False central nervous system AIDS arteritis central nervous system vasculitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005695 MONDO:0005109 False central nervous system AIDS arteritis HIV infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005695 MONDO:0024318 False central nervous system AIDS arteritis viral infection of central nervous system UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0005696 MONDO:0000368 False central nervous system tuberculosis extrapulmonary tuberculosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0005696 MONDO:0024619 False central nervous system tuberculosis central nervous system infectious disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005697 MONDO:0005989 False cerebral toxoplasmosis toxoplasmosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005699 MONDO:0005631 False cervicofacial actinomycosis actinomycosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005700 MONDO:0005608 False chickenpox varicella zoster infection UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0005698 MONDO:0002256 False cervical incompetence cervix disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0005700 MONDO:0006617 False chickenpox vesiculobullous skin disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0005700 MONDO:0024294 False chickenpox skin disorder caused by infection UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0005701 MONDO:0000315 False chlamydia trachomatis infectious disease commensal bacterial infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0005701 MONDO:0021697 False chlamydia trachomatis infectious disease chlamydia infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005704 MONDO:0005550 False Ciliophora infectious disease infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0005706 MONDO:0000308 False coccidioidomycosis primary systemic mycosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0005706 MONDO:0005135 False coccidioidomycosis parasitic infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0005708 MONDO:0006009 False Colorado tick fever viral encephalitis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0005708 MONDO:0100120 False Colorado tick fever vector-borne disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005709 MONDO:0001040 False common cold nasopharyngitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0005711 MONDO:0005728 False congenital diaphragmatic hernia diaphragm disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0005711 MONDO:0700223 False congenital diaphragmatic hernia hereditary skeletal muscle disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005712 MONDO:0002320 False congenital nystagmus congenital nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0005712 MONDO:0003847 False congenital nystagmus hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0005712 MONDO:0004843 False congenital nystagmus pathologic nystagmus UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0005714 MONDO:0016511 False congenital syphilis infectious embryofetopathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005715 MONDO:0002320 False congenital toxoplasmosis congenital nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0005715 MONDO:0016511 False congenital toxoplasmosis infectious embryofetopathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005715 MONDO:0024619 False congenital toxoplasmosis central nervous system infectious disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005716 MONDO:0005249 False contagious pleuropneumonia pneumonia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0005717 MONDO:0005108 False contagious pustular dermatitis viral infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0005718 MONDO:0005876 False Coronaviridae infectious disease Nidovirales infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005719 MONDO:0005718 False Coronavinae infectious disease Coronaviridae infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005720 MONDO:0100329 False cowpox primary viral infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005721 MONDO:0005747 False coxsackievirus infectious disease enterovirus infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005722 MONDO:0000263 False croup laryngotracheitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0005722 MONDO:0003781 False croup bronchitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0005722 MONDO:0004777 False croup acute laryngitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0005723 MONDO:0005724 False Cryptococcal meningitis cryptococcosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0005723 MONDO:0006764 False Cryptococcal meningitis fungal meningitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0005724 MONDO:0002312 False cryptococcosis opportunistic mycosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0005724 MONDO:0005135 False cryptococcosis parasitic infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0005725 MONDO:0005707 False cyclosporiasis coccidiosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0005728 MONDO:0005087 False diaphragm disorder respiratory system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0005728 MONDO:0020120 False diaphragm disorder skeletal muscle disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0005729 MONDO:0004664 False dicrocoeliasis helminthiasis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0005730 MONDO:0700204 False Dictyocaulus infectious disease trichostrongyloidiasis, non-human animal UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005731 MONDO:0005943 False dipetalonemiasis Rhabditida infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0005731 MONDO:0016075 False dipetalonemiasis filariasis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0005734 MONDO:0024950 False dourine horse disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0005736 MONDO:0006009 False eastern equine encephalitis viral encephalitis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0005737 MONDO:0005762 False Ebola hemorrhagic fever Filoviridae infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005738 MONDO:0042488 False echinococcosis Cestode infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0005739 MONDO:0004664 False echinostomiasis helminthiasis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0005740 MONDO:0005747 False Echovirus infectious disease enterovirus infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005742 MONDO:0006032 False emphysematous cholecystitis cystitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0005743 MONDO:0005846 False encephalitozoonosis microsporidiosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0005744 MONDO:0003578 False yolk sac tumor extragonadal nonseminomatous germ cell tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0005745 MONDO:0005871 False Enoplea infectious disease Nematoda infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005746 MONDO:0005943 False enterobiasis Rhabditida infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005747 MONDO:0005914 False enterovirus infectious disease Picornaviridae infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005748 MONDO:0024913 False enzootic pneumonia of calves cattle disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005748 MONDO:0700110 False enzootic pneumonia of calves pneumonia, non-human animal UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0005749 MONDO:0005249 False eosinophilic pneumonia pneumonia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0005750 MONDO:0024913 False ephemeral fever cattle disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0005751 MONDO:0005108 False epidemic pleurodynia viral infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0005752 MONDO:0005227 False epidural abscess abscess UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005752 MONDO:0006130 False epidural abscess central nervous system neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005752 MONDO:0024619 False epidural abscess central nervous system infectious disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0005753 MONDO:0004867 False epiglottitis upper respiratory tract disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0005753 MONDO:0020579 False epiglottitis mucositis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005753 MONDO:0020592 False epiglottitis disorder of pharynx UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0005754 MONDO:0000415 False epilepsy with generalized tonic-clonic seizures adolescence-adult electroclinical syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0005754 MONDO:0100030 False epilepsy with generalized tonic-clonic seizures adolescent/adult-onset epilepsy syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005755 MONDO:0700053 False equine infectious anemia viral infectious disease, non-human animal UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005755 MONDO:0700170 False equine infectious anemia equine neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005756 MONDO:0023369 False ethmoid sinusitis disorder of facial skeleton UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0005757 MONDO:0002040 False eumycotic mycetoma dermatomycosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0005757 MONDO:0005982 False eumycotic mycetoma tinea infection UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0005758 MONDO:0002146 False eunuchism hypogonadism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0005759 MONDO:0004664 False fascioloidiasis helminthiasis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0005761 MONDO:0001812 False filarial elephantiasis parasitic eyelid infestation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0005761 MONDO:0005424 False filarial elephantiasis elephantiasis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0005761 MONDO:0100120 False filarial elephantiasis vector-borne disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005762 MONDO:0005856 False Filoviridae infectious disease Mononegavirales infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005763 MONDO:0100329 False Flaviviridae infectious disease primary viral infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0005764 MONDO:0004380 False follicular dendritic cell sarcoma dendritic cell sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0005764 MONDO:0017345 False follicular dendritic cell sarcoma Epstein-Barr virus-associated mesenchymal tumor UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005764 MONDO:0020082 False follicular dendritic cell sarcoma dendritic cell tumor UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005765 MONDO:0024913 False foot and mouth disease cattle disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005765 MONDO:0024990 False foot and mouth disease swine disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -20879,33 +14344,46 @@ MONDO:0005765 MONDO:0700053 False foot and mouth disease viral infectious diseas MONDO:0005766 MONDO:0002041 False fungal lung infectious disease fungal infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005766 MONDO:0005275 False fungal lung infectious disease lung disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005766 MONDO:0024355 False fungal lung infectious disease respiratory tract infectious disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0005767 MONDO:0000315 False gas gangrene commensal bacterial infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0005767 MONDO:0005229 False gas gangrene bacterial infectious disease with sepsis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0005767 MONDO:0006617 False gas gangrene vesiculobullous skin disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0005767 MONDO:0023149 False gas gangrene infection due to clostridium perfringens UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005767 MONDO:0024295 False gas gangrene skin disease caused by bacterial infection UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0005768 MONDO:0000368 False gastrointestinal tuberculosis extrapulmonary tuberculosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0005768 MONDO:0043424 False gastrointestinal tuberculosis digestive system infectious disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005769 MONDO:0005609 False geniculate herpes zoster herpes zoster UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0005769 MONDO:0005665 False geniculate herpes zoster Bell's palsy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0005769 MONDO:0021666 False geniculate herpes zoster ear infection UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005769 MONDO:0024318 False geniculate herpes zoster viral infection of central nervous system UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0005770 MONDO:0004609 False genital herpes herpes simplex infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0005770 MONDO:0021682 False genital herpes viral sexually transmitted disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005770 MONDO:0100330 False genital herpes disease arising from reactivation of latent virus UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0005771 MONDO:0001989 False geographic tongue atrophic glossitis UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0005772 MONDO:0002312 False geotrichosis opportunistic mycosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0005773 MONDO:0005071 False Gerstmann syndrome nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0005774 MONDO:0000314 False glanders primary bacterial infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0005774 MONDO:0043953 False glanders burkholderia infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0005775 MONDO:0019214 False G6PD deficiency inborn carbohydrate metabolic disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0005777 MONDO:0000314 False granuloma inguinale primary bacterial infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0005777 MONDO:0005323 False granuloma inguinale bacterial sexually transmitted disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005777 MONDO:0030603 False granuloma inguinale Klebsiella infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0005778 MONDO:0005994 False haemonchiasis trichostrongyloidiasis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0005779 MONDO:0005721 False hand, foot and mouth disease coxsackievirus infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005779 MONDO:0024294 False hand, foot and mouth disease skin disorder caused by infection UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005780 MONDO:0021641 False hantavirus infectious disease Bunyaviridae infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0005783 MONDO:0001370 False hemopericardium pericardial effusion UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0005784 MONDO:0005240 False hantavirus hemorrhagic fever with renal syndrome kidney disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0005784 MONDO:0005780 False hantavirus hemorrhagic fever with renal syndrome hantavirus infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005784 MONDO:0100338 False hantavirus hemorrhagic fever with renal syndrome urinary tract infection UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0005785 MONDO:0005896 False henipavirus infectious disease Paramyxoviridae infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005786 MONDO:0100329 False Hepadnaviridae infectious disease primary viral infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0005787 MONDO:0000369 False hepatic tuberculosis abdominal tuberculosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0005787 MONDO:0002251 False hepatic tuberculosis hepatitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0005787 MONDO:0005768 False hepatic tuberculosis gastrointestinal tuberculosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0005787 MONDO:0006743 False hepatic tuberculosis endocrine tuberculosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005788 MONDO:0006011 False hepatitis E virus infection viral hepatitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0005789 MONDO:0006011 False hepatitis D virus infection viral hepatitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0005789 MONDO:0021674 False hepatitis D virus infection post-viral disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005790 MONDO:0006011 False hepatitis A virus infection viral hepatitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0005791 MONDO:0005108 False herpangina viral infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0005792 MONDO:0004609 False herpes simplex virus gingivostomatitis herpes simplex infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005792 MONDO:0004842 False herpes simplex virus gingivostomatitis stomatitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005794 MONDO:0100329 False Herpesviridae infectious disease primary viral infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -20913,175 +14391,237 @@ MONDO:0005796 MONDO:0024571 False HIV enteropathy AIDS-related disorder UNSUPPOR MONDO:0005797 MONDO:0005109 False HIV wasting syndrome HIV infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005797 MONDO:0024571 False HIV wasting syndrome AIDS-related disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005798 MONDO:0005363 False HIV-associated nephropathy inherited focal segmental glomerulosclerosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005798 MONDO:0024571 False HIV-associated nephropathy AIDS-related disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005800 MONDO:0004785 False hordeolum blepharitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0005800 MONDO:0005545 False hordeolum staphylococcus aureus infection UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005800 MONDO:0024295 False hordeolum skin disease caused by bacterial infection UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005800 MONDO:0043885 False hordeolum eye infectious disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005801 MONDO:0005108 False human T-lymphotropic virus 1 infectious disease viral infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005803 MONDO:0005151 False hyperinsulinemic hypoglycemia endocrine system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0005803 MONDO:0019214 False hyperinsulinemic hypoglycemia inborn carbohydrate metabolic disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0005804 MONDO:0006793 False hyperprolactinemia hyperpituitarism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005807 MONDO:0003780 False idiopathic CD4-positive T-lymphocytopenia T-cell immunodeficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0005805 MONDO:0019147 False hypodermyiasis myiasis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0005807 MONDO:0003783 False idiopathic CD4-positive T-lymphocytopenia lymphopenia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0005807 MONDO:0700007 False idiopathic CD4-positive T-lymphocytopenia idiopathic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005808 MONDO:0005701 False inclusion conjunctivitis chlamydia trachomatis infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0005808 MONDO:0006668 False inclusion conjunctivitis bacterial conjunctivitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0005809 MONDO:0700053 False infectious ectromelia viral infectious disease, non-human animal UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005810 MONDO:0005111 False infectious mononucleosis Epstein-Barr virus infection UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005811 MONDO:0700053 False infectious myxomatosis viral infectious disease, non-human animal UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005812 MONDO:0024352 False influenza viral respiratory tract infection UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005812 MONDO:0100329 False influenza primary viral infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005813 MONDO:0004380 False interdigitating dendritic cell sarcoma dendritic cell sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0005817 MONDO:0002254 False Kluver-Bucy syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0005817 MONDO:0001162 False Kluver-Bucy syndrome impulse control disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0005817 MONDO:0020067 False Kluver-Bucy syndrome infectious encephalitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005819 MONDO:0000368 False laryngeal tuberculosis extrapulmonary tuberculosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0005819 MONDO:0024355 False laryngeal tuberculosis respiratory tract infectious disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005820 MONDO:0005651 False Lassa fever arenavirus hemorrhagic fever UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005820 MONDO:0044750 False Lassa fever lassa virus infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005820 MONDO:0100120 False Lassa fever vector-borne disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005824 MONDO:0004652 False Legionnaires' disease bacterial pneumonia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0005821 MONDO:0005714 False late congenital syphilis congenital syphilis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0005823 MONDO:0000314 False legionellosis primary bacterial infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0005824 MONDO:0005823 False Legionnaires' disease legionellosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0005825 MONDO:0000314 False leptospirosis primary bacterial infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0005825 MONDO:0021839 False leptospirosis spirochaetales infections UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0005826 MONDO:0002572 False lipid pneumonia aspiration pneumonitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0005827 MONDO:0005148 False lipoatrophic diabetes type 2 diabetes mellitus UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0005828 MONDO:0000314 False listeriosis primary bacterial infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0005828 MONDO:0100120 False listeriosis vector-borne disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005829 MONDO:0024985 False louping ill sheep disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005829 MONDO:0700053 False louping ill viral infectious disease, non-human animal UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005830 MONDO:0005108 False lumpy skin disease viral infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0005831 MONDO:0000368 False lymph node tuberculosis extrapulmonary tuberculosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0005831 MONDO:0004928 False lymph node tuberculosis lymph node disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0005832 MONDO:0005833 False lymphangitis lymphatic system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0005832 MONDO:0018882 False lymphangitis vasculitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0005833 MONDO:0044986 False lymphatic system disorder lymphoid system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005834 MONDO:0005701 False lymphogranuloma venereum chlamydia trachomatis infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0005834 MONDO:0005777 False lymphogranuloma venereum granuloma inguinale UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0005834 MONDO:0005833 False lymphogranuloma venereum lymphatic system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0005835 MONDO:0000426 False Lynch syndrome autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0005837 MONDO:0002131 False mandibular cancer jaw cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0005841 MONDO:0021580 False maxillary neoplasm neoplasm of jaw UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005842 MONDO:0006858 False maxillary sinusitis mouth disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0005842 MONDO:0023369 False maxillary sinusitis disorder of facial skeleton UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005844 MONDO:0004917 False chalazion internal hordeolum UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0005845 MONDO:0019956 False meningoencephalitis encephalitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0005846 MONDO:0002312 False microsporidiosis opportunistic mycosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0005846 MONDO:0005135 False microsporidiosis parasitic infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0005847 MONDO:0005275 False middle lobe syndrome lung disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0005848 MONDO:0000368 False miliary tuberculosis extrapulmonary tuberculosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0005850 MONDO:0005108 False milker's nodule viral infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0005851 MONDO:0000568 False Miller Fisher syndrome autoimmune disorder of central nervous system UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0005851 MONDO:0002254 False Miller Fisher syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0005851 MONDO:0002427 False Miller Fisher syndrome cerebellar disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0005854 MONDO:0005554 False mixed connective tissue disease rheumatic disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0005852 MONDO:0003767 False mitral valve stenosis mitral valve disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0005854 MONDO:0016663 False mixed connective tissue disease overlapping connective tissue disease UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0005855 MONDO:0005108 False molluscum contagiosum viral infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0005856 MONDO:0100329 False Mononegavirales infectious disease primary viral infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005857 MONDO:0005896 False morbillivirus infectious disease Paramyxoviridae infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005861 MONDO:0041806 False multidrug-resistant tuberculosis drug-resistant tuberculosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005866 MONDO:0020590 False mycobacterium avium complex disease mycobacterial infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0005864 MONDO:0000637 False muscle cancer musculoskeletal system cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0005865 MONDO:0017853 False mushroom workers' lung hypersensitivity pneumonitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0005866 MONDO:0000314 False mycobacterium avium complex disease primary bacterial infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0005866 MONDO:0100120 False mycobacterium avium complex disease vector-borne disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005868 MONDO:0012197 False myelophthisic anemia idiopathic aplastic anemia UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005871 MONDO:0004664 False Nematoda infectious disease helminthiasis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0005873 MONDO:0005657 False neuroaspergillosis aspergillosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0005874 MONDO:0015254 False neuroschistosomiasis schistosomiasis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0005874 MONDO:0024619 False neuroschistosomiasis central nervous system infectious disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005876 MONDO:0100329 False Nidovirales infectious disease primary viral infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005878 MONDO:0017137 False ocular onchocerciasis onchocerciasis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005878 MONDO:0020947 False ocular onchocerciasis parasitic eye infection UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005879 MONDO:0005989 False ocular toxoplasmosis toxoplasmosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005879 MONDO:0020947 False ocular toxoplasmosis parasitic eye infection UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005880 MONDO:0005973 False oesophagostomiasis Strongylida infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0005880 MONDO:0005943 False oesophagostomiasis Rhabditida infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0005881 MONDO:0005917 False oligohydramnios placenta disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0005883 MONDO:0003543 False ophthalmic herpes zoster trigeminal nerve disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005883 MONDO:0005609 False ophthalmic herpes zoster herpes zoster UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005883 MONDO:0020010 False ophthalmic herpes zoster infectious disorder of the nervous system UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005885 MONDO:0005156 False optic neuritis encephalomyelitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0005885 MONDO:0005328 False optic neuritis eye disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0005886 MONDO:0006858 False oral candidiasis mouth disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0005887 MONDO:0005768 False oral tuberculosis gastrointestinal tuberculosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0005887 MONDO:0006858 False oral tuberculosis mouth disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0005887 MONDO:0021166 False oral tuberculosis inflammatory disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0005888 MONDO:0000314 False ornithosis primary bacterial infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0005890 MONDO:0000837 False osteitis fibrosa bone resorption disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0005891 MONDO:0005994 False ostertagiasis trichostrongyloidiasis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0005892 MONDO:0021206 False otitis media with effusion chronic non-suppurative otitis media UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0005894 MONDO:0000308 False paracoccidioidomycosis primary systemic mycosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0005896 MONDO:0005856 False Paramyxoviridae infectious disease Mononegavirales infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0005898 MONDO:0002884 False paronychia nail disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0005898 MONDO:0005093 False paronychia skin disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0005899 MONDO:0001142 False parotid disorder salivary gland disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0005900 MONDO:0005899 False parotitis parotid disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0005900 MONDO:0021166 False parotitis inflammatory disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0005901 MONDO:0005113 False pasteurellosis bacterial infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0005903 MONDO:0000368 False pericardial tuberculosis extrapulmonary tuberculosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0005903 MONDO:0005904 False pericardial tuberculosis pericarditis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0005904 MONDO:0000474 False pericarditis pericardium disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0005904 MONDO:0021166 False pericarditis inflammatory disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005906 MONDO:0005113 False peritonsillar abscess bacterial infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005906 MONDO:0005227 False peritonsillar abscess abscess UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005906 MONDO:0020592 False peritonsillar abscess disorder of pharynx UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005906 MONDO:0044986 False peritonsillar abscess lymphoid system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0005907 MONDO:0002254 False persian gulf syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0005908 MONDO:0024913 False peste des petits ruminants infectious disease cattle disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005908 MONDO:0024985 False peste des petits ruminants infectious disease sheep disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005908 MONDO:0024990 False peste des petits ruminants infectious disease swine disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005908 MONDO:0025003 False peste des petits ruminants infectious disease goat disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005908 MONDO:0700053 False peste des petits ruminants infectious disease viral infectious disease, non-human animal UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005909 MONDO:0005763 False pestivirus infectious disease Flaviviridae infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0005910 MONDO:0003778 False phagocyte bactericidal dysfunction inborn error of immunity UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0005910 MONDO:0004805 False phagocyte bactericidal dysfunction leukocyte disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0005910 MONDO:0024627 False phagocyte bactericidal dysfunction phagocytic cell dysfunction UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0005912 MONDO:0002491 False phencyclidine abuse substance abuse UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0005912 MONDO:0005303 False phencyclidine abuse drug dependence UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0005913 MONDO:0100120 False phlebotomus fever vector-borne disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005913 MONDO:0100329 False phlebotomus fever primary viral infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005914 MONDO:0100329 False Picornaviridae infectious disease primary viral infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005915 MONDO:0005982 False pityriasis versicolor tinea infection UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005915 MONDO:0006547 False pityriasis versicolor exanthem UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0005917 MONDO:0024575 False placenta disorder pregnancy disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005922 MONDO:0000986 False pleural tuberculosis pleurisy UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0005915 MONDO:0024268 False pityriasis versicolor superficial mycosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0005917 MONDO:0002654 False placenta disorder uterine disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0005919 MONDO:0005917 False placental insufficiency placenta disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0005922 MONDO:0000368 False pleural tuberculosis extrapulmonary tuberculosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0005922 MONDO:0024355 False pleural tuberculosis respiratory tract infectious disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005923 MONDO:0002041 False Pneumocystis infectious disease fungal infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005925 MONDO:0005113 False pneumonic pasteurellosis bacterial infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005927 MONDO:0100329 False polyomavirus infectious disease primary viral infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0005928 MONDO:0000945 False post-thrombotic syndrome venous insufficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0005932 MONDO:0005108 False pseudorabies viral infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0005933 MONDO:0005565 False pulmonary blastoma blastoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0005936 MONDO:0005249 False recurrent pneumonia pneumonia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005938 MONDO:0000369 False renal tuberculosis abdominal tuberculosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0005938 MONDO:0005240 False renal tuberculosis kidney disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0005938 MONDO:0005247 False renal tuberculosis bacterial urinary tract infection UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0005938 MONDO:0006002 False renal tuberculosis urogenital tuberculosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0005939 MONDO:0005108 False Reoviridae infectious disease viral infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005940 MONDO:0005896 False respirovirus infectious disease Paramyxoviridae infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005942 MONDO:0005554 False Reye syndrome rheumatic disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0005942 MONDO:0005560 False Reye syndrome brain disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0005943 MONDO:0005871 False Rhabditida infectious disease Nematoda infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005944 MONDO:0005856 False Rhabdoviridae infectious disease Mononegavirales infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0005945 MONDO:0000314 False rhinoscleroma primary bacterial infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0005945 MONDO:0030603 False rhinoscleroma Klebsiella infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0005946 MONDO:0000307 False rhinosporidiosis parasitic Ichthyosporea infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0005947 MONDO:0006927 False rickettsial pneumonia Rickettsiaceae infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005947 MONDO:0041850 False rickettsial pneumonia pneumonia caused by gram negative bacteria UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005949 MONDO:0100329 False roseolovirus infectious disease primary viral infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005950 MONDO:0000827 False Salmonella gastroenteritis salmonellosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005950 MONDO:0002269 False Salmonella gastroenteritis gastroenteritis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005950 MONDO:0043424 False Salmonella gastroenteritis digestive system infectious disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005952 MONDO:0021680 False scarlet fever streptococcal infection UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005953 MONDO:0021581 False scirrhous adenocarcinoma connective tissue neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0005954 MONDO:0019147 False screw worm infectious disease myiasis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0005956 MONDO:0005570 False septicemic plague hematologic disorder UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0005957 MONDO:0005943 False setariasis Rhabditida infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005961 MONDO:0021166 False sinusitis inflammatory disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0005957 MONDO:0016075 False setariasis filariasis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0005959 MONDO:0017853 False sick building syndrome hypersensitivity pneumonitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0005962 MONDO:0000368 False skeletal tuberculosis extrapulmonary tuberculosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0005962 MONDO:0005172 False skeletal tuberculosis skeletal system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005963 MONDO:0042488 False sparganosis Cestode infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005964 MONDO:0023369 False sphenoid sinusitis disorder of facial skeleton UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005965 MONDO:0000812 False spinal stenosis vertebral column disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0005965 MONDO:0000836 False spinal stenosis disease of bone structure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0005966 MONDO:0000612 False spleen cancer lymphatic system cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0005967 MONDO:0000369 False splenic tuberculosis abdominal tuberculosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0005967 MONDO:0002332 False splenic tuberculosis splenic disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0005969 MONDO:0005763 False st. Louis encephalitis Flaviviridae infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005969 MONDO:0020601 False st. Louis encephalitis mosquito-borne viral encephalitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005970 MONDO:0004652 False staphylococcal pneumonia bacterial pneumonia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005970 MONDO:0024313 False staphylococcal pneumonia staphylococcal infection UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005971 MONDO:0024313 False staphyloenterotoxemia staphylococcal infection UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0005971 MONDO:0000314 False staphyloenterotoxemia primary bacterial infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0005972 MONDO:0004652 False streptococcal pneumonia bacterial pneumonia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0005972 MONDO:0005114 False streptococcal pneumonia pneumococcal infection UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005973 MONDO:0005871 False Strongylida infectious disease Nematoda infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0005973 MONDO:0005135 False Strongylida infectious disease parasitic infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005974 MONDO:0005943 False strongyloidiasis Rhabditida infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005974 MONDO:0005973 False strongyloidiasis Strongylida infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005976 MONDO:0007000 False syphilis Treponema infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0005975 MONDO:0005441 False suppurative otitis media otitis media UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0005976 MONDO:0000314 False syphilis primary bacterial infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0005977 MONDO:0020010 False tabes dorsalis infectious disorder of the nervous system UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005979 MONDO:0002254 False thoracic outlet syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0005978 MONDO:0002428 False theileriasis protozoa infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0005979 MONDO:0005385 False thoracic outlet syndrome vascular disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0005980 MONDO:0002875 False tick infestation parasitic ectoparasitic infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0005981 MONDO:0005980 False tick paralysis tick infestation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0005981 MONDO:0020010 False tick paralysis infectious disorder of the nervous system UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005982 MONDO:0000254 False tinea infection cutaneous mycosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005982 MONDO:0021201 False tinea infection skin infection UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005983 MONDO:0005982 False tinea favosa tinea infection UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005985 MONDO:0100329 False Togaviridae infectious disease primary viral infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005986 MONDO:0005876 False torovirus infectious disease Nidovirales infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005987 MONDO:0005656 False toxascariasis Ascaridida infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005988 MONDO:0005656 False toxocariasis Ascaridida infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0005989 MONDO:0005707 False toxoplasmosis coccidiosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0005990 MONDO:0005113 False tracheitis bacterial infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0005990 MONDO:0020579 False tracheitis mucositis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005990 MONDO:0021925 False tracheitis tracheobronchitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005990 MONDO:0024355 False tracheitis respiratory tract infectious disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0005991 MONDO:0005664 False trench fever bartonellosis UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0005991 MONDO:0100120 False trench fever vector-borne disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005993 MONDO:0100338 False Trichomonas vaginitis urogenital infection urinary tract infection UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0005994 MONDO:0005973 False trichostrongyloidiasis Strongylida infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0005994 MONDO:0004664 False trichostrongyloidiasis helminthiasis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0005995 MONDO:0005943 False trichostrongylosis Rhabditida infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0005995 MONDO:0005994 False trichostrongylosis trichostrongyloidiasis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0005996 MONDO:0005745 False trichuriasis Enoplea infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0005997 MONDO:0000471 False tricuspid valve stenosis tricuspid valve disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0005997 MONDO:0005561 False tricuspid valve stenosis aortic disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0005999 MONDO:0005242 False tuberculous empyema empyema UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0005998 MONDO:0004389 False trombiculiasis mite infestation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0005999 MONDO:0005922 False tuberculous empyema pleural tuberculosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0005999 MONDO:0018667 False tuberculous empyema pleural empyema UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0006000 MONDO:0000369 False tuberculous peritonitis abdominal tuberculosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0006000 MONDO:0004522 False tuberculous peritonitis peritonitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0006000 MONDO:0005768 False tuberculous peritonitis gastrointestinal tuberculosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0006001 MONDO:0006026 False urinary schistosomiasis urinary bladder disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0006001 MONDO:0100338 False urinary schistosomiasis urinary tract infection UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0006002 MONDO:0000368 False urogenital tuberculosis extrapulmonary tuberculosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0006004 MONDO:0011786 False vasomotor rhinitis allergic rhinitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0006005 MONDO:0005156 False Venezuelan equine encephalitis encephalomyelitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0006005 MONDO:0005643 False Venezuelan equine encephalitis Alphavirus infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006005 MONDO:0018087 False Venezuelan equine encephalitis viral hemorrhagic fever UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006005 MONDO:0024318 False Venezuelan equine encephalitis viral infection of central nervous system UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006005 MONDO:0100120 False Venezuelan equine encephalitis vector-borne disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006007 MONDO:0001926 False vesicoureteral reflux ureteral disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0006007 MONDO:0006026 False vesicoureteral reflux urinary bladder disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0006008 MONDO:0001563 False vestibular neuronitis vestibulocochlear nerve disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0006008 MONDO:0002122 False vestibular neuronitis neuritis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0006009 MONDO:0020067 False viral encephalitis infectious encephalitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006009 MONDO:0024318 False viral encephalitis viral infection of central nervous system UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006009 MONDO:0100329 False viral encephalitis primary viral infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006010 MONDO:0024934 False salmonid viral hemorrhagic septicemia fish disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006010 MONDO:0700072 False salmonid viral hemorrhagic septicemia Rhabdoviridae infectious disease, non-human animal UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006011 MONDO:0043424 False viral hepatitis digestive system infectious disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006011 MONDO:0100329 False viral hepatitis primary viral infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006012 MONDO:0005249 False viral pneumonia pneumonia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0006012 MONDO:0024352 False viral pneumonia viral respiratory tract infection UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006012 MONDO:0100329 False viral pneumonia primary viral infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006013 MONDO:0024985 False visna disease sheep disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -21089,31 +14629,32 @@ MONDO:0006013 MONDO:0700049 False visna disease infectious disease, non-human an MONDO:0006014 MONDO:0000879 False vulvovaginal candidiasis cutaneous candidiasis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0006014 MONDO:0007019 False vulvovaginal candidiasis vulvovaginitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0006014 MONDO:0023557 False vulvovaginal candidiasis infective vaginitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006015 MONDO:0002254 False Waterhouse-Friderichsen syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0006015 MONDO:0019801 False Waterhouse-Friderichsen syndrome acute adrenal insufficiency UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006018 MONDO:0002254 False Wissler syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0006018 MONDO:0005554 False Wissler syndrome rheumatic disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0006019 MONDO:0005976 False yaws syphilis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0006021 MONDO:0005356 False Prinzmetal angina coronary vasospasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0006022 MONDO:0041261 False acidosis disorder disorder of acid-base balance UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006031 MONDO:0005961 False chronic rhinosinusitis sinusitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006025 MONDO:0000429 False autosomal recessive disease autosomal genetic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0006032 MONDO:0021166 False cystitis inflammatory disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006033 MONDO:0003869 False diffuse intrinsic pontine glioma childhood brain stem glioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006034 MONDO:0006230 False gastric adenosquamous carcinoma gastric squamous cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0006036 MONDO:0002082 False granulosa cell tumor endocrine gland neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006037 MONDO:0006025 False hydrolethalus syndrome autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0006038 MONDO:0005292 False indeterminate colitis colitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006039 MONDO:0005292 False infectious colitis colitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006039 MONDO:0043424 False infectious colitis digestive system infectious disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006040 MONDO:0005066 False lactic acidosis metabolic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006042 MONDO:0000271 False meningeal tuberculosis tuberculous salpingitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006042 MONDO:0005696 False meningeal tuberculosis central nervous system tuberculosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006042 MONDO:0006670 False meningeal tuberculosis bacterial meningitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006044 MONDO:0002286 False nephrosclerosis renal artery disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0006056 MONDO:0006043 False squamous cell breast carcinoma metaplastic breast carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0006065 MONDO:0100345 False lactose intolerance adult type lactose intolerance UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006068 MONDO:0045058 False ACTH-producing pituitary gland adenoma ACTH-producing pituitary gland neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006069 MONDO:0045058 False ACTH-producing pituitary gland carcinoma ACTH-producing pituitary gland neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006071 MONDO:0000624 False adenofibroma benign female reproductive system neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0006071 MONDO:0005167 False adenofibroma fibroma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0006074 MONDO:0005096 False adenosquamous carcinoma squamous cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0006075 MONDO:0021511 False adrenal gland myelolipoma benign neoplasm of adrenal gland UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006076 MONDO:0000551 False adrenal gland neuroblastoma retroperitoneal neuroblastoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0006077 MONDO:0005043 False adrenal medullary hyperplasia hyperplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006077 MONDO:0005495 False adrenal medullary hyperplasia adrenal gland disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006078 MONDO:0017341 False AIDS-related primary central nervous system lymphoma virus associated tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006079 MONDO:0002415 False ameloblastic carcinoma bone carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -21124,7 +14665,6 @@ MONDO:0006086 MONDO:0021581 False angiomyxoma connective tissue neoplasm UNSUPPO MONDO:0006087 MONDO:0006028 False appendix adenocarcinoma cecum adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0006088 MONDO:0000527 False appendix adenoma colon adenoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006088 MONDO:0018511 False appendix adenoma epithelial tumor of the appendix UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006090 MONDO:0006249 False appendix hyperplastic polyp hyperplastic polyp UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006090 MONDO:0021392 False appendix hyperplastic polyp polyp of large intestine UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006090 MONDO:0056798 False appendix hyperplastic polyp disorder of appendix UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006091 MONDO:0006126 False appendix neuroendocrine tumor G1 cecum neuroendocrine tumor G1 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -21133,10 +14673,7 @@ MONDO:0006094 MONDO:0003274 False Askin tumor thoracic cancer UNSUPPORTED-MISSIN MONDO:0006096 MONDO:0000931 False atypical endometrial hyperplasia endometrial disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006096 MONDO:0005043 False atypical endometrial hyperplasia hyperplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006098 MONDO:0000653 False atypical lobular breast hyperplasia integumentary system cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006103 MONDO:0021468 False benign adrenal gland pheochromocytoma benign neoplasm of adrenal medulla UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006103 MONDO:0036976 False benign adrenal gland pheochromocytoma benign epithelial neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006103 MONDO:0056804 False benign adrenal gland pheochromocytoma benign neoplasm of peripheral nervous system UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006104 MONDO:0000627 False benign carotid body paraganglioma benign endocrine neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006104 MONDO:0024286 False benign carotid body paraganglioma benign blood vessel neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006104 MONDO:0056804 False benign carotid body paraganglioma benign neoplasm of peripheral nervous system UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006107 MONDO:0000627 False benign thyroid gland neoplasm benign endocrine neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -21145,68 +14682,56 @@ MONDO:0006117 MONDO:0000653 False breast diffuse large B-cell lymphoma integumen MONDO:0006118 MONDO:0002051 False breast fibrosis integumentary system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0006118 MONDO:0021100 False breast fibrosis breast neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006119 MONDO:0000653 False breast mucosa-associated lymphoid tissue lymphoma integumentary system cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006120 MONDO:0003240 False C-cell hyperplasia thyroid gland disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006120 MONDO:0005043 False C-cell hyperplasia hyperplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006122 MONDO:0002691 False calcifying nested epithelial stromal tumor of the liver liver cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006132 MONDO:0002951 False cervical adenoid basal carcinoma skin adenoid basal cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0006132 MONDO:0006143 False cervical adenoid basal carcinoma cervical squamous cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0006133 MONDO:0005153 False cervical adenoid cystic carcinoma cervical adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0006134 MONDO:0005153 False cervical adenosquamous carcinoma cervical adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0006134 MONDO:0006143 False cervical adenosquamous carcinoma cervical squamous cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0006139 MONDO:0002256 False cervical metaplasia cervix disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006146 MONDO:0006499 False chondroid hamartoma hamartoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006141 MONDO:0002742 False cervical villoglandular adenocarcinoma cervical mucinous adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0006150 MONDO:0000621 False colon Burkitt lymphoma immune system cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006150 MONDO:0023113 False colon Burkitt lymphoma familial colorectal cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006151 MONDO:0003409 False colon dysplasia colonic disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006152 MONDO:0005401 False colon inflammatory polyp colonic neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006152 MONDO:0021400 False colon inflammatory polyp polyp of colon UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006153 MONDO:0005401 False colon juvenile polyp colonic neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006153 MONDO:0006161 False colon juvenile polyp colorectal juvenile polyp UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006153 MONDO:0021400 False colon juvenile polyp polyp of colon UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006157 MONDO:0006165 False colorectal adenosquamous carcinoma colorectal squamous cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006158 MONDO:0000621 False colorectal diffuse large B-cell lymphoma immune system cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006160 MONDO:0005335 False colorectal hamartoma colorectal neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006160 MONDO:0006231 False colorectal hamartoma gastrointestinal hamartoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006160 MONDO:0021392 False colorectal hamartoma polyp of large intestine UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006161 MONDO:0006160 False colorectal juvenile polyp colorectal hamartoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006161 MONDO:0006258 False colorectal juvenile polyp juvenile polyp UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006169 MONDO:0005043 False complex endometrial hyperplasia hyperplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006170 MONDO:0000462 False conjunctival disorder eye adnexa disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006173 MONDO:0010150 False conjunctival squamous cell carcinoma head and neck squamous cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0006188 MONDO:0004805 False EBV-positive T-cell lymphoproliferative disorder of childhood leukocyte disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006193 MONDO:0005043 False endometrial hyperplasia without atypia hyperplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006195 MONDO:0000931 False endometrial polyp endometrial disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006202 MONDO:0003549 False extrahepatic bile duct adenosquamous carcinoma adenosquamous bile duct carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006202 MONDO:0006203 False extrahepatic bile duct adenosquamous carcinoma extrahepatic bile duct squamous cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006203 MONDO:0003500 False extrahepatic bile duct squamous cell carcinoma squamous cell bile duct carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006207 MONDO:0006206 False fallopian tube carcinosarcoma fallopian tube carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0006209 MONDO:0021581 False fibroblastic neoplasm connective tissue neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006211 MONDO:0024478 False fibrous hamartoma of infancy mesenchymal hamartoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006212 MONDO:0024483 False flat urothelial hyperplasia urothelial hyperplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006217 MONDO:0006220 False gallbladder adenosquamous carcinoma gallbladder squamous cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0006224 MONDO:0006231 False gastric hamartomatous polyp gastrointestinal hamartoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006224 MONDO:0021085 False gastric hamartomatous polyp gastric neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006225 MONDO:0000621 False gastric mantle cell lymphoma immune system cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006225 MONDO:0042493 False gastric mantle cell lymphoma gastric non-hodgkin lymphoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006226 MONDO:0018502 False gastric mucosa-associated lymphoid tissue lymphoma hereditary gastric cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006231 MONDO:0006499 False gastrointestinal hamartoma hamartoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006231 MONDO:0021223 False gastrointestinal hamartoma digestive system neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006231 MONDO:0024292 False gastrointestinal hamartoma gastrointestinal polyp UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006232 MONDO:0002402 False giant cell tumor of soft tissue malignant giant cell tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006232 MONDO:0005089 False giant cell tumor of soft tissue sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006234 MONDO:0005159 False grade III prostatic intraepithelial neoplasia prostate carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0006238 MONDO:0019927 False growth hormone-producing pituitary gland adenoma growth hormone-producing pituitary gland neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006241 MONDO:0024477 False hepatic granuloma liver and intrahepatic bile duct neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006243 MONDO:0018531 False hepatoid adenocarcinoma carcinoma of liver and intrahepatic biliary tract UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006247 MONDO:0015757 False histiocytic and dendritic cell neoplasm lymphoid hemopathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006248 MONDO:0002872 False hydatidiform mole trophoblastic neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006248 MONDO:0003847 False hydatidiform mole hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006248 MONDO:0021218 False hydatidiform mole placenta neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006249 MONDO:0005079 False hyperplastic polyp polyp UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006250 MONDO:0006155 False ileal neuroendocrine tumor G1 colon neuroendocrine tumor G1 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006257 MONDO:0006155 False jejunal neuroendocrine tumor G1 colon neuroendocrine tumor G1 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006258 MONDO:0006231 False juvenile polyp gastrointestinal hamartoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006260 MONDO:0005086 False kidney medullary carcinoma renal cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006262 MONDO:0002475 False lacrimal gland adenoid cystic carcinoma lacrimal gland adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0006268 MONDO:0000621 False liver diffuse large B-cell lymphoma immune system cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006268 MONDO:0007256 False liver diffuse large B-cell lymphoma hepatocellular carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006276 MONDO:0005138 False lung inflammatory myofibroblastic tumor lung carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006279 MONDO:0003050 False lung sarcomatoid carcinoma lung large cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0006280 MONDO:0003194 False lung sclerosing hemangioma hemangioma of lung UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0006281 MONDO:0005061 False lung signet ring cell carcinoma lung adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0006281 MONDO:0005092 False lung signet ring cell carcinoma signet ring cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0006282 MONDO:0004993 False lymphangiosarcoma carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0006282 MONDO:0005089 False lymphangiosarcoma sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS @@ -21220,15 +14745,11 @@ MONDO:0006291 MONDO:0002714 False malignant jugulotympanic paraganglioma central MONDO:0006291 MONDO:0004634 False malignant jugulotympanic paraganglioma vein disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006291 MONDO:0024499 False malignant jugulotympanic paraganglioma vascular bone neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006291 MONDO:0043218 False malignant jugulotympanic paraganglioma neurovascular disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006292 MONDO:0005065 False malignant mesothelioma mesothelioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006294 MONDO:0000376 False pleural cancer respiratory system cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0006306 MONDO:0005853 False mixed lobular and ductal breast carcinoma malignant mixed neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006311 MONDO:0020076 False myelodysplastic/myeloproliferative neoplasm myeloproliferative neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0006312 MONDO:0001572 False myofibroma leiomyoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0006313 MONDO:0021230 False nabothian cyst uterine cervix neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006314 MONDO:0002232 False nasal cavity polyp nasal cavity disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006314 MONDO:0005079 False nasal cavity polyp polyp UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006322 MONDO:0002887 False non-neoplastic bile duct disorder bile duct disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006322 MONDO:0005151 False non-neoplastic bile duct disorder endocrine system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006328 MONDO:0005070 False odontogenic cyst neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006329 MONDO:0003142 False olfactory neuroblastoma intracranial primitive neuroectodermal tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS @@ -21238,18 +14759,13 @@ MONDO:0006353 MONDO:0000382 False paranasal sinus Schneiderian papilloma respira MONDO:0006353 MONDO:0000631 False paranasal sinus Schneiderian papilloma bone benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006353 MONDO:0000633 False paranasal sinus Schneiderian papilloma sensory organ benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006354 MONDO:0001223 False parathyroid hyperplasia parathyroid gland disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006354 MONDO:0005043 False parathyroid hyperplasia hyperplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006361 MONDO:0006895 False penile fibromatosis penile neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006362 MONDO:0005065 False peritoneal mesothelioma mesothelioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006365 MONDO:0006231 False Peutz-Jeghers polyp gastrointestinal hamartoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006366 MONDO:0006224 False Peutz-Jeghers polyp of the stomach gastric hamartomatous polyp UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006366 MONDO:0006365 False Peutz-Jeghers polyp of the stomach Peutz-Jeghers polyp UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006372 MONDO:0002109 False pituicytoma pituitary cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0006372 MONDO:0003169 False pituicytoma diencephalic astrocytomas UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0006372 MONDO:0016685 False pituicytoma low-grade astrocytoma UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006386 MONDO:0003195 False primary peritoneal serous adenocarcinoma peritoneal serous adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006387 MONDO:0000621 False primary pulmonary diffuse large B-cell lymphoma immune system cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006388 MONDO:0003430 False prolactin-producing pituitary gland carcinoma prolactin producing pituitary tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006392 MONDO:0021398 False rectal hyperplastic polyp polyp of rectum UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006401 MONDO:0044740 False salivary gland adenosquamous carcinoma salivary gland squamous cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006402 MONDO:0005341 False salivary gland basal cell adenocarcinoma skin basal cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006402 MONDO:0044740 False salivary gland basal cell adenocarcinoma salivary gland squamous cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -21257,6 +14773,7 @@ MONDO:0006404 MONDO:0005617 False salivary gland large cell carcinoma undifferen MONDO:0006405 MONDO:0024503 False salivary gland small cell carcinoma digestive system neuroendocrine neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006406 MONDO:0020663 False sarcomatoid carcinoma malignant spindle cell neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006410 MONDO:0005043 False simple endometrial hyperplasia hyperplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006412 MONDO:0015531 False sinus histiocytosis with massive lymphadenopathy non-Langerhans cell histiocytosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006416 MONDO:0000621 False small intestinal Burkitt lymphoma immune system cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006417 MONDO:0000621 False small intestinal diffuse large B-cell lymphoma immune system cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006418 MONDO:0000621 False small intestinal enteropathy-associated T-cell lymphoma immune system cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -21265,18 +14782,16 @@ MONDO:0006419 MONDO:0005335 False small intestinal intraepithelial neoplasia col MONDO:0006427 MONDO:0020664 False spindle cell melanoma spindle cell neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006438 MONDO:0002081 False synovial chondromatosis musculoskeletal system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006442 MONDO:0024876 False tendon sheath fibroma tendon sheath disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006446 MONDO:0005564 False testicular embryonal carcinoma embryonal neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0006450 MONDO:0020076 False therapy-related myeloid neoplasm myeloproliferative neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006460 MONDO:0005070 False thyroglossal duct cyst neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006462 MONDO:0000621 False thyroid gland diffuse large B-cell lymphoma immune system cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006463 MONDO:0024622 False thyroid gland mucoepidermoid carcinoma thyroid gland adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0006467 MONDO:0005096 False thyroid gland squamous cell carcinoma squamous cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006469 MONDO:0000952 False tibial adamantinoma cancer of long bone of lower limb UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0006470 MONDO:0000535 False tonsillar squamous cell carcinoma tonsil squamous cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006478 MONDO:0005617 False undifferentiated pancreatic carcinoma undifferentiated carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006483 MONDO:0024337 False urothelial dysplasia urothelial neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006487 MONDO:0020653 False vaginal adenoid cystic carcinoma vaginal adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006491 MONDO:0001938 False vulvar lichen sclerosus vulvar dystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006491 MONDO:0007899 False vulvar lichen sclerosus lichen sclerosus et atrophicus UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006493 MONDO:0006180 False Warthin tumor digestive system adenoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006493 MONDO:0021460 False Warthin tumor benign neoplasm of salivary gland UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006496 MONDO:0002602 False palsy central nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -21284,95 +14799,164 @@ MONDO:0006497 MONDO:0044996 False cerebral palsy cerebral cortex disorder UNSUPP MONDO:0006499 MONDO:0005070 False hamartoma neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006500 MONDO:0036976 False hemangioma benign epithelial neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006502 MONDO:0001208 False acute respiratory distress syndrome acute respiratory failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006502 MONDO:0002254 False acute respiratory distress syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006504 MONDO:0005066 False acquired metabolic disease metabolic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0006505 MONDO:0003996 False basal ganglia cerebrovascular disorder basal ganglia disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0006505 MONDO:0011057 False basal ganglia cerebrovascular disorder cerebrovascular disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0006506 MONDO:0000577 False congenital nonspherocytic hemolytic anemia congenital anemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006506 MONDO:0003689 False congenital nonspherocytic hemolytic anemia familial hemolytic anemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0006506 MONDO:0019050 False congenital nonspherocytic hemolytic anemia inherited hemoglobinopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0006507 MONDO:0001436 False hereditary hemochromatosis hemosiderosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0006507 MONDO:0004689 False hereditary hemochromatosis inborn metal metabolism disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0006507 MONDO:0017763 False hereditary hemochromatosis disorder of iron metabolism and transport UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006510 MONDO:0005240 False renal tubular transport disease kidney disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0006512 MONDO:0006116 False estrogen-receptor positive breast cancer breast carcinoma by gene expression profile UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006513 MONDO:0006116 False estrogen-receptor negative breast cancer breast carcinoma by gene expression profile UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006515 MONDO:0020683 False acute pancreatitis acute disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006520 MONDO:0002254 False Achenbach syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0006520 MONDO:0005093 False Achenbach syndrome skin disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0006524 MONDO:0006523 False acrodermatitis chronica atrophicans acrodermatitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0006525 MONDO:0004980 False allergic contact dermatitis atopic eczema UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0006526 MONDO:0004980 False allergic urticaria atopic eczema UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0006527 MONDO:0006615 False anhidrosis sweat gland disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0006528 MONDO:0006547 False bacterial exanthem exanthem UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0006528 MONDO:0024295 False bacterial exanthem skin disease caused by bacterial infection UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006530 MONDO:0006566 False cholesteatoma keratosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0006531 MONDO:0006533 False cholesteatoma of attic cholesteatoma of middle ear UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0006532 MONDO:0006530 False cholesteatoma of external ear cholesteatoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0006534 MONDO:0006599 False cholinergic urticaria physical urticaria UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0006536 MONDO:0020087 False congenital generalized lipodystrophy hereditary lipodystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006536 MONDO:0027766 False congenital generalized lipodystrophy generalized lipodystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0006537 MONDO:0001331 False conjunctival pigmentation conjunctival deposit UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0006540 MONDO:0006615 False dyshidrosis sweat gland disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0006541 MONDO:0006617 False epidermolysis bullosa vesiculobullous skin disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0006543 MONDO:0019276 False epidermolysis bullosa dystrophica inherited epidermolysis bullosa UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006544 MONDO:0006619 False erythema infectiosum viral exanthem UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0006544 MONDO:0024294 False erythema infectiosum skin disorder caused by infection UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006549 MONDO:0060765 False fibroepithelial polyp of the anus fibroepithelial polyp UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006549 MONDO:0060766 False fibroepithelial polyp of the anus anal polyp UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006550 MONDO:0060765 False fibroepithelial polyp of urethra fibroepithelial polyp UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006547 MONDO:0005093 False exanthem skin disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0006548 MONDO:0005093 False facial dermatosis skin disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0006551 MONDO:0004907 False alopecia mucinosa alopecia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0006551 MONDO:0006607 False alopecia mucinosa sebaceous gland disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0006551 MONDO:0021653 False alopecia mucinosa cutaneous focal mucinosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006552 MONDO:0002406 False folliculitis dermatitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0006553 MONDO:0006615 False Fox-Fordyce disease sweat gland disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0006554 MONDO:0002406 False granuloma annulare dermatitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0006556 MONDO:0005093 False hand dermatosis skin disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0006557 MONDO:0000652 False hemangioma of subcutaneous tissue integumentary system benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0006557 MONDO:0019296 False hemangioma of subcutaneous tissue subcutaneous tissue disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006558 MONDO:0006594 False pemphigoid gestationis pemphigus UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0006558 MONDO:0024575 False pemphigoid gestationis pregnancy disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006559 MONDO:0002260 False hidradenitis suppurativa hidradenitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0006561 MONDO:0003382 False eyelid hypopigmentation eyelid disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0006565 MONDO:0015614 False juvenile dermatitis herpetiformis dermatitis herpetiformis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0006566 MONDO:0045011 False keratosis keratinization disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006567 MONDO:0001240 False kernicterus due to isoimmunization neonatal anemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0006567 MONDO:0018477 False kernicterus due to isoimmunization bilirubin encephalopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0006572 MONDO:0002406 False lichen planus dermatitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0006573 MONDO:0005066 False lipodystrophy metabolic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0006569 MONDO:0005093 False leg dermatosis skin disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0006570 MONDO:0005093 False lichen disease skin disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0006571 MONDO:0006570 False lichen nitidus lichen disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0006572 MONDO:0006570 False lichen planus lichen disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0006573 MONDO:0005093 False lipodystrophy skin disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0006576 MONDO:0005230 False Ludwig's angina cellulitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0006576 MONDO:0006858 False Ludwig's angina mouth disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0006577 MONDO:0006858 False maxillary sinus cholesteatoma mouth disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0006577 MONDO:0023369 False maxillary sinus cholesteatoma disorder of facial skeleton UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006580 MONDO:0002254 False miliaria syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0006580 MONDO:0006615 False miliaria sweat gland disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0006581 MONDO:0006580 False miliaria rubra miliaria UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0006583 MONDO:0021154 False necrobiosis lipoidica dermis disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006586 MONDO:0002406 False neurotic excoriation dermatitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0006589 MONDO:0005480 False occupational dermatitis contact dermatitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0006589 MONDO:0100366 False occupational dermatitis occupational disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006591 MONDO:0002051 False panniculitis integumentary system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0006591 MONDO:0003900 False panniculitis connective tissue disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0006591 MONDO:0021166 False panniculitis inflammatory disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006592 MONDO:0005083 False parapsoriasis psoriasis UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0006594 MONDO:0019337 False pemphigus autoimmune bullous skin disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0006595 MONDO:0005154 False perinatal jaundice due to hepatocellular damage liver disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0006596 MONDO:0006525 False photoallergic dermatitis allergic contact dermatitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0006596 MONDO:0006597 False photoallergic dermatitis photosensitivity disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0006597 MONDO:0043771 False photosensitivity disease radiodermatitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006598 MONDO:0006564 False phototoxic dermatitis irritant dermatitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0006598 MONDO:0006597 False phototoxic dermatitis photosensitivity disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0006599 MONDO:0005492 False physical urticaria urticaria UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0006601 MONDO:0006547 False pityriasis rosea exanthem UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0006602 MONDO:0006566 False porokeratosis keratosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0006602 MONDO:0019268 False porokeratosis epidermal disease UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006602 MONDO:0100118 False porokeratosis hereditary skin disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006605 MONDO:0005093 False scalp dermatosis skin disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0006606 MONDO:0002523 False scleredema adultorum cutaneous mucinosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0006607 MONDO:0002917 False sebaceous gland disorder disorder of pilosebaceous unit UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0006607 MONDO:0005093 False sebaceous gland disorder skin disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0006609 MONDO:0006608 False seborrheic infantile dermatitis seborrheic dermatitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0006613 MONDO:0001308 False stromal corneal pigmentation corneal deposit UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0006620 MONDO:0021396 False vulva fibroepithelial polyp polyp of vulva UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006620 MONDO:0060765 False vulva fibroepithelial polyp fibroepithelial polyp UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006614 MONDO:0019337 False subcorneal pustular dermatosis autoimmune bullous skin disease UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0006615 MONDO:0005093 False sweat gland disorder skin disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0006616 MONDO:0006525 False toxicodendron dermatitis allergic contact dermatitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0006617 MONDO:0005093 False vesiculobullous skin disease skin disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0006618 MONDO:0006599 False vibratory urticaria physical urticaria UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0006619 MONDO:0006547 False viral exanthem exanthem UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0006622 MONDO:0002656 False vulvar seborrheic keratosis skin carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0006622 MONDO:0005215 False vulvar seborrheic keratosis vulvar carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0006624 MONDO:0006026 False overactive bladder urinary bladder disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0006625 MONDO:0005087 False altitude sickness respiratory system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006629 MONDO:0005178 False osteoarthritis, hip osteoarthritis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006630 MONDO:0005178 False osteoarthritis, spine osteoarthritis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006633 MONDO:0006032 False acalculous cholecystitis cystitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0006634 MONDO:0006373 False pituitary gland acidophil adenoma pituitary gland adenoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0006635 MONDO:0006878 False Acinetobacter infectious disease Moraxellaceae infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006636 MONDO:0005113 False Actinobacillus infectious disease bacterial infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006638 MONDO:0002708 False acute retinal necrosis syndrome retinitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0006638 MONDO:0020683 False acute retinal necrosis syndrome acute disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006639 MONDO:0002095 False adrenal cortex carcinoma vascular cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0006639 MONDO:0002814 False adrenal cortex carcinoma adrenal carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0006639 MONDO:0005086 False adrenal cortex carcinoma renal cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0006640 MONDO:0002816 False adrenal gland hyperfunction adrenal cortex disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0006641 MONDO:0004566 False afferent loop syndrome postgastrectomy syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0006642 MONDO:0002326 False alcohol withdrawal delirium alcohol-induced mental disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006642 MONDO:0005433 False alcohol withdrawal delirium alcohol withdrawal UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006642 MONDO:0021698 False alcohol withdrawal delirium alcohol-related disorders UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006643 MONDO:0002824 False alcoholic cardiomyopathy extrinsic cardiomyopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0006643 MONDO:0021699 False alcoholic cardiomyopathy alcohol-induced disorders UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006644 MONDO:0043693 False alcoholic liver cirrhosis alcoholic liver diseases UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006645 MONDO:0001824 False alcoholic polyneuropathy polyneuropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0006647 MONDO:0002679 False anterior cerebral artery infarction cerebral infarction UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0006648 MONDO:0004001 False anterior compartment of tibia syndrome compartment syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0006648 MONDO:0020120 False anterior compartment of tibia syndrome skeletal muscle disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006656 MONDO:0018882 False aortitis vasculitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0006649 MONDO:0002135 False anterior ischemic optic neuropathy optic nerve disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0006650 MONDO:0000473 False anterior spinal artery syndrome arterial disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0006650 MONDO:0002254 False anterior spinal artery syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0006652 MONDO:0005068 False anterolateral myocardial infarction myocardial infarction UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0006655 MONDO:0003803 False aortic valve prolapse aortic valve disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0006656 MONDO:0005561 False aortitis aortic disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0006658 MONDO:0021661 False arteriolosclerosis coronary atherosclerosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006659 MONDO:0021661 False arteriosclerosis obliterans coronary atherosclerosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006662 MONDO:0021108 False aseptic meningitis meningitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006660 MONDO:0007004 False arthus reaction type III hypersensitivity disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0006663 MONDO:0005087 False perinatal asphyxia respiratory system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0006664 MONDO:0002078 False atrial septal defect heart septal defect UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0006664 MONDO:0003847 False atrial septal defect hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0006665 MONDO:0005001 False chronic atrophic gastritis chronic gastritis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006666 MONDO:0003240 False atrophy of thyroid thyroid gland disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006668 MONDO:0043885 False bacterial conjunctivitis eye infectious disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006669 MONDO:0000565 False bacterial endocarditis infective endocarditis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006669 MONDO:0005113 False bacterial endocarditis bacterial infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006671 MONDO:0006705 False Bacteroides infectious disease Bacteroidaceae infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006671 MONDO:0024389 False Bacteroides infectious disease anaerobic bacteria infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006672 MONDO:0021166 False balanitis inflammatory disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006673 MONDO:0003641 False pituitary gland basophil adenoma central nervous system hematopoietic neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0006676 MONDO:0042976 False beriberi vitamin B deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006673 MONDO:0004805 False pituitary gland basophil adenoma leukocyte disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0006673 MONDO:0006373 False pituitary gland basophil adenoma pituitary gland adenoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0006677 MONDO:0004868 False bile reflux biliary tract disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0006678 MONDO:0004828 False bladder calculus lower urinary tract calculus UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0006678 MONDO:0006026 False bladder calculus urinary bladder disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0006679 MONDO:0006026 False bladder neck obstruction urinary bladder disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0006681 MONDO:0021839 False Borrelia infectious disease spirochaetales infections UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006683 MONDO:0024432 False brachial plexus neuropathy nerve plexus disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0006682 MONDO:0002122 False brachial plexus neuritis neuritis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0006682 MONDO:0006683 False brachial plexus neuritis brachial plexus neuropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0006684 MONDO:0005560 False brain edema brain disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0006685 MONDO:0005299 False brain hypoxia - ischemia brain ischemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006687 MONDO:0002254 False burning mouth syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0006686 MONDO:0005394 False brain stem infarction brain infarction UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0006688 MONDO:0015926 False byssinosis pneumoconiosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0006690 MONDO:0002907 False carotid artery thrombosis intracranial thrombosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0006690 MONDO:0005269 False carotid artery thrombosis carotid artery disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0006693 MONDO:0006808 False cerebral arterial disease intracranial arterial disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0006696 MONDO:0002256 False cervix erosion cervix disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0006698 MONDO:0005281 False cholecystolithiasis gallbladder disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0006699 MONDO:0002886 False choledocholithiasis common bile duct disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0006699 MONDO:0005346 False choledocholithiasis gallstones UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006700 MONDO:0002095 False choroid cancer vascular cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0006700 MONDO:0043218 False choroid cancer neurovascular disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006701 MONDO:0006373 False chromophobe adenoma pituitary gland adenoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0006702 MONDO:0003334 False chronic inflammatory demyelinating polyradiculoneuropathy demyelinating polyneuropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0006702 MONDO:0006915 False chronic inflammatory demyelinating polyradiculoneuropathy polyradiculoneuropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0006704 MONDO:0007179 False CNS demyelinating autoimmune disease autoimmune disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -21381,20 +14965,39 @@ MONDO:0006706 MONDO:0005113 False Bifidobacteriales infectious disease bacterial MONDO:0006708 MONDO:0021678 False Desulfovibrionaceae infectious disease gram-negative bacterial infections UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006709 MONDO:0002886 False common bile duct neoplasm common bile duct disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0006709 MONDO:0021385 False common bile duct neoplasm extrahepatic bile duct neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006710 MONDO:0005384 False complex partial epilepsy focal epilepsy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0006712 MONDO:0000942 False corneal edema corneal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0006713 MONDO:0003085 False corneal neovascularization keratitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0006714 MONDO:0005010 False coronary aneurysm coronary artery disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0006715 MONDO:0005010 False coronary stenosis coronary artery disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0006716 MONDO:0000831 False coronary thrombosis thrombotic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0006716 MONDO:0005010 False coronary thrombosis coronary artery disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0006718 MONDO:0005976 False cutaneous syphilis syphilis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006718 MONDO:0024295 False cutaneous syphilis skin disease caused by bacterial infection UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006720 MONDO:0005626 False cystic, mucinous, and serous neoplasm epithelial neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006721 MONDO:0006816 False de Quervain disease arthropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0006723 MONDO:0004842 False denture stomatitis stomatitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0006726 MONDO:0005728 False diaphragmatic eventration diaphragm disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0006727 MONDO:0005009 False diastolic heart failure congestive heart failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0006729 MONDO:0006987 False discrete subaortic stenosis subvalvular aortic stenosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0006730 MONDO:0001423 False drug psychosis drug-induced mental disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0006730 MONDO:0004630 False drug psychosis substance-induced psychosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0006732 MONDO:0005071 False drug-induced dyskinesia nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006733 MONDO:0002254 False dry eye syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0006733 MONDO:0001854 False dry eye syndrome lacrimal apparatus disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0006733 MONDO:0004768 False dry eye syndrome keratoconjunctivitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0006735 MONDO:0002866 False duodenogastric reflux duodenal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0006735 MONDO:0007186 False duodenogastric reflux gastroesophageal reflux disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0006736 MONDO:0005039 False dysplasia of cervix reproductive system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006737 MONDO:0024575 False dystocia pregnancy disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006740 MONDO:0002254 False empty sella syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0006742 MONDO:0005397 False endemic goiter goiter UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0006739 MONDO:0004989 False Ehrlich tumor carcinoma breast carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0006740 MONDO:0003381 False empty sella syndrome pituitary gland disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0006742 MONDO:0006873 False endemic goiter nutritional deficiency disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0006743 MONDO:0005151 False endocrine tuberculosis endocrine system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006743 MONDO:0018076 False endocrine tuberculosis tuberculosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006744 MONDO:0004900 False endolymphatic hydrops peripheral vertigo UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0006745 MONDO:0003311 False endometrioid stromal sarcoma endometrial stromal tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0006745 MONDO:0011962 False endometrioid stromal sarcoma endometrial cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0006746 MONDO:0005201 False endomyocardial fibrosis restrictive cardiomyopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0006747 MONDO:0024913 False enterotoxemia cattle disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006747 MONDO:0024950 False enterotoxemia horse disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006747 MONDO:0024985 False enterotoxemia sheep disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -21404,92 +15007,162 @@ MONDO:0006748 MONDO:0005027 False epilepsia partialis continua epilepsy UNSUPPOR MONDO:0006751 MONDO:0021679 False Erysipelothrix infectious disease gram-positive bacterial infections UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006752 MONDO:0006751 False Erysipelothrix rhusiopathiae infectious disease Erysipelothrix infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006753 MONDO:0006670 False Escherichia coli meningitis bacterial meningitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006755 MONDO:0002254 False euthyroid sick syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0006754 MONDO:0003749 False esophageal diverticulosis esophageal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0006757 MONDO:0001751 False extrahepatic cholestasis cholestasis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0006757 MONDO:0006322 False extrahepatic cholestasis non-neoplastic bile duct disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006758 MONDO:0005039 False female genital tuberculosis reproductive system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006759 MONDO:0001397 False femoral neuropathy mononeuropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0006759 MONDO:0024334 False femoral neuropathy peripheral nerve lesion UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006760 MONDO:0001245 False fetal erythroblastosis microcytic anemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0006761 MONDO:0000473 False fibromuscular dysplasia arterial disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006761 MONDO:0003847 False fibromuscular dysplasia hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006762 MONDO:0024913 False freemartinism cattle disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006762 MONDO:0700105 False freemartinism difference of sexual differentiation, non-human animal UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006763 MONDO:0006816 False frozen shoulder arthropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0006764 MONDO:0002041 False fungal meningitis fungal infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0006764 MONDO:0004796 False fungal meningitis infectious meningitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0006765 MONDO:0006925 False Fusobacterium infectious disease Fusobacteriaceae infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006765 MONDO:0024389 False Fusobacterium infectious disease anaerobic bacteria infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006767 MONDO:0021658 False gastric antral vascular ectasia vascular ectasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006766 MONDO:0000665 False gait apraxia apraxia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0006767 MONDO:0001574 False gastric antral vascular ectasia capillary disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0006769 MONDO:0001318 False gastroparesis functional gastric disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0006770 MONDO:0005674 False giant cell reparative granuloma bone giant cell tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0006771 MONDO:0001165 False glossitis tongue disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0006771 MONDO:0021166 False glossitis inflammatory disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006773 MONDO:0006054 False gonadal tissue neoplasm reproductive system neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006774 MONDO:0005039 False habitual spontaneous abortion reproductive system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006779 MONDO:0005267 False heart aneurysm heart disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0006780 MONDO:0024913 False heartwater disease cattle disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006780 MONDO:0700205 False heartwater disease ehrlichiosis, non-human animal UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006781 MONDO:0021678 False Helicobacter pylori infectious disease gram-negative bacterial infections UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006782 MONDO:0002654 False hemometra uterine disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0006783 MONDO:0002076 False hemopneumothorax pneumothorax UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0006784 MONDO:0001531 False hemorrhagic disease of newborn blood coagulation disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006784 MONDO:0005137 False hemorrhagic disease of newborn nutritional disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006786 MONDO:0002405 False hepatic vein thrombosis hepatic vascular disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0006788 MONDO:0000365 False hydrophthalmos primary congenital glaucoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0006789 MONDO:0005570 False hyperamylasemia hematologic disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006791 MONDO:0024575 False hyperemesis gravidarum pregnancy disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006792 MONDO:0002610 False hyperglobulinemic purpura purpura UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0006792 MONDO:0005093 False hyperglobulinemic purpura skin disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0006793 MONDO:0024468 False hyperpituitarism anterior pituitary gland disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006794 MONDO:0018882 False hypersensitivity vasculitis vasculitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0006794 MONDO:0000605 False hypersensitivity vasculitis hypersensitivity reaction disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0006796 MONDO:0006810 False hypertensive encephalopathy intracranial hypertension UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0006798 MONDO:0003916 False hypervitaminosis A overnutrition UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0006799 MONDO:0002150 False hypothalamic neoplasm hypothalamic disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0006802 MONDO:0045072 False inappropriate ADH syndrome ectopic hormone secretion syndrome associated with neoplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006800 MONDO:0000665 False ideomotor apraxia apraxia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0006802 MONDO:0003381 False inappropriate ADH syndrome pituitary gland disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0006803 MONDO:0005068 False inferior myocardial infarction myocardial infarction UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0006805 MONDO:0005010 False intermediate coronary syndrome coronary artery disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0006807 MONDO:0005020 False intestinal perforation intestinal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0006808 MONDO:0011057 False intracranial arterial disease cerebrovascular disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0006809 MONDO:0011057 False intracranial embolism cerebrovascular disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0006810 MONDO:0005044 False intracranial hypertension hypertensive disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0006810 MONDO:0005560 False intracranial hypertension brain disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0006810 MONDO:0043218 False intracranial hypertension neurovascular disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006811 MONDO:0005560 False intracranial hypotension brain disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0006812 MONDO:0011057 False intracranial vasospasm cerebrovascular disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0006814 MONDO:0002289 False iritis iris disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0006814 MONDO:0020283 False iritis uveitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0006815 MONDO:0000956 False jejunal cancer small intestine cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0006815 MONDO:0002564 False jejunal cancer jejunal neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0006816 MONDO:0005172 False arthropathy skeletal system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006820 MONDO:0005240 False kidney cortex necrosis kidney disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0006821 MONDO:0005240 False kidney papillary necrosis kidney disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0006823 MONDO:0017975 False Klinefelter syndrome sex chromosome disorder of sex development UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006823 MONDO:0700027 False Klinefelter syndrome chromosome X disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006823 MONDO:0700065 False Klinefelter syndrome trisomy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006824 MONDO:0004993 False Krebs 2 carcinoma carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006825 MONDO:0005395 False kuru movement disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0006827 MONDO:0002254 False lateral medullary syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0006825 MONDO:0005429 False kuru prion disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0006825 MONDO:0018926 False kuru human prion disease UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006826 MONDO:0001371 False kwashiorkor protein-energy malnutrition UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0006827 MONDO:0006686 False lateral medullary syndrome brain stem infarction UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0006828 MONDO:0002436 False nasal cavity and paranasal sinus lethal midline granuloma nasal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0006828 MONDO:0005586 False nasal cavity and paranasal sinus lethal midline granuloma head and neck neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006829 MONDO:0004959 False leukemoid reaction plasma cell neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006830 MONDO:0043243 False leukoplakia of penis leukoplakia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006835 MONDO:0002462 False lipoid nephrosis glomerulonephritis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0006830 MONDO:0002036 False leukoplakia of penis penile disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0006831 MONDO:0004805 False leukostasis leukocyte disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0006833 MONDO:0005397 False lingual goiter goiter UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0006834 MONDO:0005515 False lip cancer oral cavity cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0006836 MONDO:0005828 False Listeria meningitis listeriosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0006836 MONDO:0006670 False Listeria meningitis bacterial meningitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0006837 MONDO:0002135 False low tension glaucoma optic nerve disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0006837 MONDO:0005338 False low tension glaucoma open-angle glaucoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0006838 MONDO:0000368 False lupus vulgaris extrapulmonary tuberculosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006839 MONDO:0006664 False Lutembacher syndrome atrial septal defect UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0006840 MONDO:0005833 False lymphangiectasis lymphatic system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006840 MONDO:0021658 False lymphangiectasis vascular ectasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006844 MONDO:0006873 False magnesium deficiency nutritional deficiency disease UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006845 MONDO:0003150 False male genital tuberculosis male reproductive system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006845 MONDO:0006002 False male genital tuberculosis urogenital tuberculosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006846 MONDO:0005044 False malignant hypertension hypertensive disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0006848 MONDO:0001371 False marasmus protein-energy malnutrition UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0006849 MONDO:0021166 False mastitis inflammatory disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006850 MONDO:0005841 False maxillary sinus neoplasm maxillary neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0006851 MONDO:0024263 False meconium aspiration syndrome neonatal aspiration syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006855 MONDO:0005294 False mesenteric vascular occlusion peripheral vascular disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0006857 MONDO:0002679 False middle cerebral artery infarction cerebral infarction UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0006857 MONDO:0006693 False middle cerebral artery infarction cerebral arterial disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0006858 MONDO:0700096 False mouth disorder human disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006861 MONDO:0005089 False myeloid sarcoma sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0006861 MONDO:0015667 False myeloid sarcoma acute myeloid leukemia by FAB classification UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006862 MONDO:0005336 False myofascial pain syndrome myopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0006864 MONDO:0001142 False necrotizing sialometaplasia salivary gland disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0006866 MONDO:0009688 False neonatal myasthenia gravis myasthenia gravis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0006868 MONDO:0005020 False neurogenic bowel intestinal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0006871 MONDO:0005207 False non-gestational choriocarcinoma choriocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0006874 MONDO:0001751 False obstructive jaundice cholestasis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0006874 MONDO:0006322 False obstructive jaundice non-neoplastic bile duct disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006875 MONDO:0005044 False ocular hypertension hypertensive disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0006875 MONDO:0005328 False ocular hypertension eye disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0006876 MONDO:0000368 False ocular tuberculosis extrapulmonary tuberculosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0006876 MONDO:0043885 False ocular tuberculosis eye infectious disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006877 MONDO:0005558 False oophoritis ovarian disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0006877 MONDO:0021166 False oophoritis inflammatory disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006878 MONDO:0021678 False Moraxellaceae infectious disease gram-negative bacterial infections UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006879 MONDO:0002708 False optic papillitis retinitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0006881 MONDO:0005230 False orbital cellulitis cellulitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0006879 MONDO:0005885 False optic papillitis optic neuritis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0006880 MONDO:0006858 False oral leukoedema mouth disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0006881 MONDO:0001230 False orbital cellulitis acute orbital inflammation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0006882 MONDO:0021166 False orchitis inflammatory disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006884 MONDO:0001718 False panophthalmitis scleritis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0006884 MONDO:0004863 False panophthalmitis purulent endophthalmitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0006886 MONDO:0005034 False thyroid gland papillary and follicular carcinoma thyroid gland follicular carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0006886 MONDO:0005075 False thyroid gland papillary and follicular carcinoma thyroid gland papillary carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0006887 MONDO:0000922 False parametritis pelvic inflammatory disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0006887 MONDO:0002654 False parametritis uterine disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0006887 MONDO:0043786 False parametritis serositis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006887 MONDO:0045043 False parametritis disorder of uterine broad ligament UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006888 MONDO:0001824 False paraneoplastic polyneuropathy polyneuropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0006888 MONDO:0018215 False paraneoplastic polyneuropathy paraneoplastic neurologic syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006889 MONDO:0006904 False paraphimosis phimosis UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0006891 MONDO:0005384 False partial motor epilepsy focal epilepsy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0006892 MONDO:0005384 False partial sensory epilepsy focal epilepsy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0006893 MONDO:0005229 False Pasteurella hemorrhagic septicemia bacterial infectious disease with sepsis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006893 MONDO:0040998 False Pasteurella hemorrhagic septicemia Pasteurella multocida infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006894 MONDO:0006816 False patellofemoral pain syndrome arthropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0006896 MONDO:0001409 False peptic esophagitis esophagitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0006896 MONDO:0004247 False peptic esophagitis peptic ulcer disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0006896 MONDO:0044782 False peptic esophagitis esophageal ulcer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006897 MONDO:0004508 False periapical granuloma periapical periodontitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0006898 MONDO:0002471 False periarthritis bursitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0006898 MONDO:0005578 False periarthritis arthritic joint disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0006899 MONDO:0002021 False pericoronitis gingival disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0006899 MONDO:0005076 False pericoronitis periodontitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0006900 MONDO:0005240 False perinephritis kidney disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0006900 MONDO:0021166 False perinephritis inflammatory disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006908 MONDO:0001259 False pituitary apoplexy pituitary gland infarction UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0006908 MONDO:0019832 False pituitary apoplexy acquired pituitary hormone deficiency UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006909 MONDO:0005495 False pituitary dwarfism adrenal gland disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006912 MONDO:0005020 False pneumatosis cystoides intestinalis intestinal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0006913 MONDO:0001316 False pneumococcal meningitis streptococcal meningitis UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006913 MONDO:0005114 False pneumococcal meningitis pneumococcal infection UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006915 MONDO:0001824 False polyradiculoneuropathy polyneuropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0006915 MONDO:0002562 False polyradiculoneuropathy demyelinating disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0006916 MONDO:0004868 False postcholecystectomy syndrome biliary tract disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0006916 MONDO:0006026 False postcholecystectomy syndrome urinary bladder disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0006917 MONDO:0002679 False posterior cerebral artery infarction cerebral infarction UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0006917 MONDO:0006693 False posterior cerebral artery infarction cerebral arterial disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0006918 MONDO:0020283 False posterior uveitis uveitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0006919 MONDO:0006873 False potassium deficiency nutritional deficiency disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006921 MONDO:0021679 False Actinomycetales infectious disease gram-positive bacterial infections UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006921 MONDO:0024389 False Actinomycetales infectious disease anaerobic bacteria infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -21498,45 +15171,66 @@ MONDO:0006922 MONDO:0021678 False Anaplasmataceae infectious disease gram-negati MONDO:0006923 MONDO:0021679 False Bacillaceae infectious disease gram-positive bacterial infections UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006924 MONDO:0021678 False Bartonellaceae infectious disease gram-negative bacterial infections UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006925 MONDO:0021678 False Fusobacteriaceae infectious disease gram-negative bacterial infections UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006926 MONDO:0005113 False haemophilus infectious disease bacterial infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006927 MONDO:0006956 False Rickettsiaceae infectious disease Rickettsiosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006927 MONDO:0021678 False Rickettsiaceae infectious disease gram-negative bacterial infections UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006929 MONDO:0005113 False Proteus infectious disease bacterial infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006930 MONDO:0003569 False pseudobulbar palsy cranial nerve neuropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0006932 MONDO:0001208 False pulmonary edema acute respiratory failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006931 MONDO:0005275 False pulmonary coin lesion lung disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0006933 MONDO:0005275 False pulmonary plasma cell granuloma lung disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0006935 MONDO:0006936 False pulmonary subvalvular stenosis pulmonary valve stenosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0006936 MONDO:0003628 False pulmonary valve stenosis pulmonary valve disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0006937 MONDO:0003394 False pulpitis dental pulp disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0006937 MONDO:0005113 False pulpitis bacterial infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0006937 MONDO:0021166 False pulpitis inflammatory disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006938 MONDO:0001166 False pyelitis nephritis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0006939 MONDO:0001786 False pyelonephritis uterine inflammatory disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0006939 MONDO:0005247 False pyelonephritis bacterial urinary tract infection UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006939 MONDO:0006938 False pyelonephritis pyelitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0006940 MONDO:0001459 False radial nerve lesion radial neuropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0006940 MONDO:0003607 False radial nerve lesion neuritis of upper limb UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0006940 MONDO:0006682 False radial nerve lesion brachial plexus neuritis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0006940 MONDO:0024334 False radial nerve lesion peripheral nerve lesion UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006941 MONDO:0005113 False rat-bite fever bacterial infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006941 MONDO:0100120 False rat-bite fever vector-borne disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006944 MONDO:0005240 False renal aminoaciduria kidney disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006945 MONDO:0002286 False renal artery obstruction renal artery disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0006946 MONDO:0001530 False renal osteodystrophy secondary hyperparathyroidism of renal origin UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0006946 MONDO:0005520 False renal osteodystrophy rickets UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0006947 MONDO:0001105 False renovascular hypertension renal hypertension UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0006949 MONDO:0002175 False retinal drusen degeneration of macula and posterior pole UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0006950 MONDO:0002311 False retinal vasculitis retinal vascular disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0006950 MONDO:0002708 False retinal vasculitis retinitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0006950 MONDO:0018882 False retinal vasculitis vasculitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0006953 MONDO:0002901 False Rh isoimmunization blood group incompatibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0006955 MONDO:0021166 False rheumatic heart disease inflammatory disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006956 MONDO:0005113 False Rickettsiosis bacterial infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006957 MONDO:0002233 False root caries enamel caries UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0006960 MONDO:0001397 False sciatic neuropathy mononeuropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0006961 MONDO:0005429 False scrapie prion disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0006963 MONDO:0006607 False sebaceous gland neoplasm sebaceous gland disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0006965 MONDO:0006816 False secondary hypertrophic osteoarthropathy arthropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0006966 MONDO:0005559 False secondary Parkinson disease neurodegenerative disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0006968 MONDO:0006816 False shoulder impingement syndrome arthropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0006969 MONDO:0002052 False sialadenitis lymphadenitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0006970 MONDO:0001142 False sialolithiasis salivary gland disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0006971 MONDO:0005401 False sigmoid neoplasm colonic neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006972 MONDO:0005275 False silo filler disease lung disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0006976 MONDO:0005369 False somatostatinoma carcinoid tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006976 MONDO:0019954 False somatostatinoma pancreatic neuroendocrine tumor UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006978 MONDO:0020674 False splenic infarction vascular insufficiency disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006979 MONDO:0700103 False steatitis nutritional deficiency disease, non-human animal UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006981 MONDO:0000565 False subacute bacterial endocarditis infective endocarditis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0006981 MONDO:0020683 False subacute bacterial endocarditis acute disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006982 MONDO:0001949 False subacute thyroiditis acute thyroiditis UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0006983 MONDO:0011057 False subclavian steal syndrome cerebrovascular disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0006984 MONDO:0005242 False subdural empyema empyema UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006984 MONDO:0024619 False subdural empyema central nervous system infectious disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006986 MONDO:0005397 False substernal goiter goiter UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0006987 MONDO:0042981 False subvalvular aortic stenosis aortic valve stenosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0006988 MONDO:0044348 False sulfhemoglobinemia hemoglobinopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006989 MONDO:0004508 False suppurative periapical periodontitis periapical periodontitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0006990 MONDO:0020283 False suppurative uveitis uveitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0006992 MONDO:0005976 False syphilitic aortitis syphilis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006994 MONDO:0002254 False tarsal tunnel syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0006995 MONDO:0002254 False tethered spinal cord syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0006996 MONDO:0004425 False thyroid crisis hyperthyroidism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0006993 MONDO:0005009 False systolic heart failure congestive heart failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0006994 MONDO:0006997 False tarsal tunnel syndrome tibial neuropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0006995 MONDO:0002545 False tethered spinal cord syndrome spinal cord disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0006997 MONDO:0001397 False tibial neuropathy mononeuropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0006998 MONDO:0004685 False tonsil cancer Waldeyer's ring cancer UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0006999 MONDO:0005172 False tooth disorder skeletal system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007000 MONDO:0005323 False Treponema infectious disease bacterial sexually transmitted disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -21544,74 +15238,131 @@ MONDO:0007000 MONDO:0021678 False Treponema infectious disease gram-negative bac MONDO:0007000 MONDO:0021839 False Treponema infectious disease spirochaetales infections UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007001 MONDO:0005561 False tricuspid valve prolapse aortic disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0007001 MONDO:0020289 False tricuspid valve prolapse congenital tricuspid malformation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007002 MONDO:0003620 False trochlear nerve disorder peripheral nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0007004 MONDO:0007179 False type III hypersensitivity disease autoimmune disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0007005 MONDO:0005265 False ulcerative proctosigmoiditis inflammatory bowel disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007006 MONDO:0001397 False ulnar neuropathy mononeuropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0007006 MONDO:0006683 False ulnar neuropathy brachial plexus neuropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0007007 MONDO:0005297 False Ureaplasma urethritis urethritis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007008 MONDO:0001106 False uremia kidney failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0007009 MONDO:0006026 False ureterolithiasis urinary bladder disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0007011 MONDO:0019338 False uveoparotid fever sarcoidosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0007012 MONDO:0018686 False variant Creutzfeldt-Jakob disease acquired Creutzfeldt-Jakob disease UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007013 MONDO:0005362 False vasculogenic impotence erectile dysfunction UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0007014 MONDO:0005113 False vibrio infectious disease bacterial infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007015 MONDO:0006662 False viral meningitis aseptic meningitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0007016 MONDO:0024298 False vitamin A deficiency vitamin deficiency disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007017 MONDO:0004860 False vitreous detachment vitreous disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0007017 MONDO:0020246 False vitreous detachment inherited vitreoretinopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007018 MONDO:0002187 False vulvitis vulvar disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0007018 MONDO:0021166 False vulvitis inflammatory disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007019 MONDO:0002234 False vulvovaginitis vaginitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0007019 MONDO:0007018 False vulvovaginitis vulvitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0007020 MONDO:0005560 False Wernicke encephalopathy brain disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0007020 MONDO:0021698 False Wernicke encephalopathy alcohol-related disorders UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007023 MONDO:0005113 False Yersinia infectious disease bacterial infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007022 MONDO:0001110 False xanthogranulomatous pyelonephritis chronic pyelonephritis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0007024 MONDO:0007023 False Yersinia pseudotuberculosis infectious disease Yersinia infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007025 MONDO:0005976 False chancre syphilis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007027 MONDO:0002251 False non-alcoholic steatohepatitis hepatitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0007028 MONDO:0020120 False rotator cuff syndrome skeletal muscle disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007029 MONDO:0000426 False branchio-oto-renal syndrome autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0007029 MONDO:0015161 False branchio-oto-renal syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007030 MONDO:0000426 False autosomal dominant Aarskog syndrome autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0007030 MONDO:0021005 False autosomal dominant Aarskog syndrome faciodigitogenital syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0007031 MONDO:0003847 False familial abdominal aortic aneurysm hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007031 MONDO:0005350 False familial abdominal aortic aneurysm abdominal aortic aneurysm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007032 MONDO:0018559 False prune belly syndrome fetal lower urinary tract obstruction UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007032 MONDO:0100191 False prune belly syndrome inherited kidney disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007034 MONDO:0003847 False Adams-Oliver syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0007035 MONDO:0002406 False acanthosis nigricans dermatitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0007034 MONDO:0018234 False Adams-Oliver syndrome dysostosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0007034 MONDO:0019054 False Adams-Oliver syndrome congenital limb malformation UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007036 MONDO:0003847 False Achard syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0007037 MONDO:0005516 False Achondroplasia osteochondrodysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0007037 MONDO:0019685 False Achondroplasia FGFR3-related chondrodysplasia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007038 MONDO:0003847 False Achoo syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007039 MONDO:0021061 False neurofibromatosis type 2 neurofibromatosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0007040 MONDO:0000078 False Sakati-Nyhan syndrome acrocephalopolysyndactyly UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007041 MONDO:0019796 False Apert syndrome acrocephalosyndactyly UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007043 MONDO:0000078 False Pfeiffer syndrome acrocephalopolysyndactyly UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007045 MONDO:0015159 False acrofacial dysostosis, Catania type multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007045 MONDO:0018237 False acrofacial dysostosis, Catania type acrofacial dysostosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0007046 MONDO:0006566 False hereditary papulotranslucent acrokeratoderma keratosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0007046 MONDO:0100118 False hereditary papulotranslucent acrokeratoderma hereditary skin disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007047 MONDO:0017675 False punctate palmoplantar keratoderma type III punctate palmoplantar keratoderma UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0007048 MONDO:0006566 False acrokeratosis verruciformis keratosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0007048 MONDO:0100118 False acrokeratosis verruciformis hereditary skin disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007049 MONDO:0003847 False acroleukopathy, symmetric hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007050 MONDO:0003847 False acromegaloid changes, cutis verticis gyrata, and corneal leukoma hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007051 MONDO:0015160 False acromegaloid facial appearance syndrome multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007052 MONDO:0006238 False growth hormone secreting pituitary adenoma 1 growth hormone-producing pituitary gland adenoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0007054 MONDO:0003847 False acromial dimples hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007055 MONDO:0019695 False Acromicric dysplasia acromelic dysplasia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007056 MONDO:0019707 False acroosteolysis primary osteolysis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007057 MONDO:0000426 False Acroosteolysis dominant type autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0007057 MONDO:0003157 False Acroosteolysis dominant type disappearing bone disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0007057 MONDO:0005554 False Acroosteolysis dominant type rheumatic disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0007057 MONDO:0007056 False Acroosteolysis dominant type acroosteolysis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0007057 MONDO:0023603 False Acroosteolysis dominant type hereditary disorder of connective tissue UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007058 MONDO:0015929 False Acropectorovertebral dysplasia thoracic malformation UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007058 MONDO:0800066 False Acropectorovertebral dysplasia polydactyly-syndactyly-triphalangism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007059 MONDO:0015161 False acrorenal syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007060 MONDO:0015746 False spermatogenic failure 6 male infertility due to globozoospermia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0007062 MONDO:0018234 False adactylia, unilateral dysostosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007062 MONDO:0019713 False adactylia, unilateral non-syndromic limb reduction defect UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007064 MONDO:0017855 False severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency T-B- severe combined immunodeficiency UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007064 MONDO:0019236 False severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency inborn disorder of purine metabolism UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007064 MONDO:0031520 False severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency familial severe combined immunodeficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0007066 MONDO:0003847 False adenosine triphosphatase deficiency, anemia due to hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007067 MONDO:0016789 False pyruvate kinase hyperactivity pyruvate metabolism disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007068 MONDO:0004736 False adenylosuccinate lyase deficiency inborn disorder of amino acid metabolism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0007068 MONDO:0019236 False adenylosuccinate lyase deficiency inborn disorder of purine metabolism UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007070 MONDO:0000652 False adiposis dolorosa integumentary system benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0007070 MONDO:0006574 False adiposis dolorosa lipomatosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0007070 MONDO:0019296 False adiposis dolorosa subcutaneous tissue disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007071 MONDO:0015129 False adrenocortical hypofunction, chronic primary congenital chronic primary adrenal insufficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0007072 MONDO:0000426 False ADULT syndrome autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0007072 MONDO:0018234 False ADULT syndrome dysostosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0007072 MONDO:0019054 False ADULT syndrome congenital limb malformation UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007072 MONDO:0019287 False ADULT syndrome ectodermal dysplasia syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS MONDO:0007073 MONDO:0015160 False Hypoglossia-hypodactyly syndrome multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007073 MONDO:0017139 False Hypoglossia-hypodactyly syndrome oromandibular-limb hypogenesis syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007073 MONDO:0019054 False Hypoglossia-hypodactyly syndrome congenital limb malformation UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007073 MONDO:0019713 False Hypoglossia-hypodactyly syndrome non-syndromic limb reduction defect UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007074 MONDO:0003900 False ainhum connective tissue disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0007074 MONDO:0005093 False ainhum skin disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0007074 MONDO:0005381 False ainhum bone disorder UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0007075 MONDO:0019627 False alacrima, congenital, autosomal dominant isolated congenital alacrima UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007077 MONDO:0005328 False Tietz syndrome eye disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0007077 MONDO:0019290 False Tietz syndrome hypopigmentation of the skin UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007077 MONDO:0100118 False Tietz syndrome hereditary skin disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007078 MONDO:0019695 False pseudohypoparathyroidism type 1A acromelic dysplasia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007078 MONDO:0019992 False pseudohypoparathyroidism type 1A pseudohypoparathyroidism UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0007078 MONDO:0800466 False pseudohypoparathyroidism type 1A disorder of GNAS inactivation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007079 MONDO:0005303 False alcohol dependence drug dependence UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0007079 MONDO:0021698 False alcohol dependence alcohol-related disorders UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007082 MONDO:0005340 False alopecia areata 1 alopecia areata UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007083 MONDO:0017666 False autosomal dominant palmoplantar keratoderma and congenital alopecia diffuse palmoplantar keratoderma UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007083 MONDO:0019287 False autosomal dominant palmoplantar keratoderma and congenital alopecia ectodermal dysplasia syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS +MONDO:0007085 MONDO:0002051 False alopecia-epilepsy-pyorrhea-intellectual disability syndrome integumentary system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007085 MONDO:0002254 False alopecia-epilepsy-pyorrhea-intellectual disability syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007085 MONDO:0003847 False alopecia-epilepsy-pyorrhea-intellectual disability syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007086 MONDO:0000426 False autosomal dominant Alport syndrome autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0007088 MONDO:0015140 False Alzheimer disease type 1 early-onset autosomal dominant Alzheimer disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007089 MONDO:0015547 False Alzheimer disease 2 hereditary dementia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007089 MONDO:0024237 False Alzheimer disease 2 inherited neurodegenerative disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007089 MONDO:0100087 False Alzheimer disease 2 familial Alzheimer disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007090 MONDO:0003847 False amastia, bilateral, with ureteral triplication and dysmorphism hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007091 MONDO:0003847 False amelia and terminal transverse hemimelia hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007092 MONDO:0000426 False amelogenesis imperfecta type 1B autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0007092 MONDO:0015047 False amelogenesis imperfecta type 1B amelogenesis imperfecta type 1 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007094 MONDO:0015047 False amelogenesis imperfecta type 1A amelogenesis imperfecta type 1 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007095 MONDO:0019287 False ameloonychohypohidrotic syndrome ectodermal dysplasia syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0007096 MONDO:0003847 False amenorrhea-galactorrhea syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007097 MONDO:0002254 False Finnish type amyloidosis syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0007097 MONDO:0018102 False Finnish type amyloidosis corneal dystrophy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0007097 MONDO:0018634 False Finnish type amyloidosis hereditary amyloidosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007097 MONDO:0020127 False Finnish type amyloidosis hereditary peripheral neuropathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007098 MONDO:0005620 False ACys amyloidosis cerebral amyloid angiopathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0007099 MONDO:0018634 False familial visceral amyloidosis hereditary amyloidosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007100 MONDO:0018634 False familial amyloid neuropathy hereditary amyloidosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007100 MONDO:0020127 False familial amyloid neuropathy hereditary peripheral neuropathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007101 MONDO:0015301 False familial primary localized cutaneous amyloidosis primary cutaneous amyloidosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007101 MONDO:0018634 False familial primary localized cutaneous amyloidosis hereditary amyloidosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007101 MONDO:0100118 False familial primary localized cutaneous amyloidosis hereditary skin disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007102 MONDO:0003847 False amyotrophic dystonic paraplegia hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -21619,11 +15370,19 @@ MONDO:0007104 MONDO:0024237 False amyotrophic lateral sclerosis-parkinsonism-dem MONDO:0007105 MONDO:0030923 False frontotemporal dementia and/or amyotrophic lateral sclerosis 1 frontotemporal dementia and/or amyotrophic lateral sclerosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0007106 MONDO:0003847 False anal sphincter dysplasia hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007107 MONDO:0003847 False anal sphincter myopathy, internal hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007108 MONDO:0000405 False anal canal carcinoma anal canal cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0007108 MONDO:0018516 False anal canal carcinoma epithelial tumor of anal canal UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007109 MONDO:0000577 False congenital dyserythropoietic anemia type 3 congenital anemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007112 MONDO:0019512 False interventricular septum aneurysm congenital heart malformation UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007113 MONDO:0003847 False Angelman syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0007113 MONDO:0005071 False Angelman syndrome nervous system disorder UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0007114 MONDO:0019695 False Angel-shaped phalango-epiphyseal dysplasia acromelic dysplasia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007115 MONDO:0019803 False angioma serpiginosum, autosomal dominant angioma serpiginosum UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007116 MONDO:0019755 False hereditary neurocutaneous angioma developmental defect during embryogenesis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007116 MONDO:0024296 False hereditary neurocutaneous angioma vascular neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007118 MONDO:0006527 False isolated anhidrosis with normal sweat glands anhidrosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0007118 MONDO:0019296 False isolated anhidrosis with normal sweat glands subcutaneous tissue disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007118 MONDO:0021154 False isolated anhidrosis with normal sweat glands dermis disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007118 MONDO:0100118 False isolated anhidrosis with normal sweat glands hereditary skin disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007119 MONDO:0003847 False isolated aniridia hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007119 MONDO:0019172 False isolated aniridia aniridia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -21632,74 +15391,124 @@ MONDO:0007120 MONDO:0003847 False aniridia-absent patella syndrome hereditary di MONDO:0007121 MONDO:0003847 False aniridia, microcornea, and spontaneously Reabsorbed cataract hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007122 MONDO:0003847 False anisocoria hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007123 MONDO:0002254 False ankyloblepharon filiforme adnatum-cleft palate syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007124 MONDO:0018234 False ankyloblepharon-ectodermal defects-cleft lip/palate syndrome dysostosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0007124 MONDO:0019054 False ankyloblepharon-ectodermal defects-cleft lip/palate syndrome congenital limb malformation UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007124 MONDO:0019287 False ankyloblepharon-ectodermal defects-cleft lip/palate syndrome ectodermal dysplasia syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS +MONDO:0007125 MONDO:0001165 False ankyloglossia tongue disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0007125 MONDO:0003847 False ankyloglossia hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0007127 MONDO:0002185 False diffuse idiopathic skeletal hyperostosis hyperostosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0007127 MONDO:0003847 False diffuse idiopathic skeletal hyperostosis hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0007127 MONDO:0700007 False diffuse idiopathic skeletal hyperostosis idiopathic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007128 MONDO:0003847 False annular erythema hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007130 MONDO:0017705 False congenital total pulmonary venous return anomaly congenital pulmonary venous return anomaly UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007131 MONDO:0019287 False anonychia with flexural pigmentation ectodermal dysplasia syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0007132 MONDO:0003847 False anonychia-ectrodactyly hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007133 MONDO:0003847 False anonychia-onychodystrophy with brachydactyly type b and ectrodactyly hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007134 MONDO:0018234 False Cooks syndrome dysostosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007134 MONDO:0019054 False Cooks syndrome congenital limb malformation UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007134 MONDO:0021004 False Cooks syndrome brachydactyly UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007135 MONDO:0019211 False nonsyndromic congenital nail disorder 6 isolated congenital anonychia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007136 MONDO:0019938 False hereditary anorectal anomalies anorectal malformation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007137 MONDO:0010528 False isolated congenital anosmia anosmia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007137 MONDO:0018751 False isolated congenital anosmia hereditary otorhinolaryngologic disease UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007142 MONDO:0000426 False Townes-Brocks syndrome autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0007142 MONDO:0015161 False Townes-Brocks syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007142 MONDO:0019054 False Townes-Brocks syndrome congenital limb malformation UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007143 MONDO:0015159 False aortic arch anomaly-facial dysmorphism-intellectual disability syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007144 MONDO:0003847 False aortic arch interruption, facial palsy, and retinal coloboma hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007145 MONDO:0019294 False aplasia cutis congenita mixed dermis disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007145 MONDO:0100118 False aplasia cutis congenita hereditary skin disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007147 MONDO:0002254 False obstructive sleep apnea syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0007148 MONDO:0020573 False appendicitis, proneness to inherited disease susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007150 MONDO:0001515 False arcus senilis corneal degeneration UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0007150 MONDO:0003847 False arcus senilis hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0007151 MONDO:0003847 False arms, malformation of hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007153 MONDO:0003847 False arteries, anomalies of hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007154 MONDO:0001256 False arteriovenous malformations of the brain arteriovenous hemangioma/malformation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0007154 MONDO:0003847 False arteriovenous malformations of the brain hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0007155 MONDO:0003847 False arteritis, familial granulomatous, with juvenile polyarthritis hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007156 MONDO:0003847 False arthritis, sacroiliac hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007157 MONDO:0015240 False arthrogryposis, distal, type 1A digitotalar dysmorphism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0007160 MONDO:0022800 False Stickler syndrome type 1 type 2 collagenopathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007162 MONDO:0003847 False asymmetric short stature syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007163 MONDO:0100254 False episodic ataxia type 2 CACNA1A-related complex neurodevelopmental disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007164 MONDO:0017846 False spastic ataxia 1 autosomal dominant spastic ataxia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007165 MONDO:0017846 False spastic ataxia 7 autosomal dominant spastic ataxia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007166 MONDO:0100309 False ataxia with fasciculations hereditary ataxia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007167 MONDO:0019690 False atelosteogenesis type I filamin-related bone disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007168 MONDO:0019690 False atelosteogenesis type III filamin-related bone disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007169 MONDO:0020573 False atherosclerosis susceptibility inherited disease susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007170 MONDO:0024623 False atresia of external auditory canal and conductive deafness otorhinolaryngologic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007171 MONDO:0015281 False atrial standstill 1 atrial standstill UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007174 MONDO:0002254 False Lown-Ganong-Levine syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0007175 MONDO:0003847 False PR interval, variation in hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007176 MONDO:0019118 False helicoid peripapillary chorioretinal degeneration inherited retinal dystrophy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0007177 MONDO:0002081 False auriculoosteodysplasia musculoskeletal system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007178 MONDO:0003847 False aurocephalosyndactyly hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007180 MONDO:0003847 False Axenfeld-Rieger anomaly with partially absent eye muscles, distinctive face, hydrocephaly, and skeletal abnormalities hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007181 MONDO:0042973 False axial osteomalacia familial osteosclerosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007182 MONDO:0015548 False Machado-Joseph disease Huntington disease-like syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007182 MONDO:0019792 False Machado-Joseph disease autosomal dominant cerebellar ataxia type I UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007183 MONDO:0003847 False azotemia, familial hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007184 MONDO:0005339 False alopecia, androgenetic, 1 androgenetic alopecia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007185 MONDO:0001411 False Banki syndrome synostosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007186 MONDO:0003749 False gastroesophageal reflux disease esophageal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0007186 MONDO:0003847 False gastroesophageal reflux disease hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0007186 MONDO:0004298 False gastroesophageal reflux disease stomach disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0007187 MONDO:0042983 False nevoid basal cell carcinoma syndrome neurocutaneous syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007187 MONDO:0000426 False nevoid basal cell carcinoma syndrome autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0007187 MONDO:0019755 False nevoid basal cell carcinoma syndrome developmental defect during embryogenesis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007188 MONDO:0005172 False primary basilar invagination skeletal system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007188 MONDO:0021147 False primary basilar invagination disorder of development or morphogenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007190 MONDO:0020573 False leukemia, chronic lymphocytic, susceptibility to, 2 inherited disease susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007191 MONDO:0002254 False Behcet disease syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0007190 MONDO:0015356 False leukemia, chronic lymphocytic, susceptibility to, 2 hereditary neoplastic syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007191 MONDO:0019293 False Behcet disease skin vascular disease UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0007192 MONDO:0003847 False beta-amino acids, renal transport of hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007194 MONDO:0003803 False familial bicuspid aortic valve aortic valve disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0007194 MONDO:0003847 False familial bicuspid aortic valve hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0007194 MONDO:0021147 False familial bicuspid aortic valve disorder of development or morphogenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007195 MONDO:0000110 False bifid nose, autosomal dominant bifid nose UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007197 MONDO:0003847 False bladder diverticulum hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0007197 MONDO:0006026 False bladder diverticulum urinary bladder disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0007198 MONDO:0015161 False Ascher syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007199 MONDO:0003847 False blepharochalasis, superior hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007200 MONDO:0015159 False blepharonasofacial malformation syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007201 MONDO:0000426 False blepharophimosis, ptosis, and epicanthus inversus syndrome autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0007201 MONDO:0008537 False blepharophimosis, ptosis, and epicanthus inversus syndrome telecanthus UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0007201 MONDO:0019852 False blepharophimosis, ptosis, and epicanthus inversus syndrome inherited primary ovarian failure UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0007202 MONDO:0001176 False blepharoptosis-myopia-ectopia lentis syndrome lens disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007203 MONDO:0015356 False blue rubber bleb nevus hereditary neoplastic syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007203 MONDO:0019293 False blue rubber bleb nevus skin vascular disease UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007203 MONDO:0100118 False blue rubber bleb nevus hereditary skin disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007204 MONDO:0800064 False Cole-Carpenter syndrome 1 osteogenesis imperfecta and a reduction of bone mineral density. UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007205 MONDO:0018230 False diaphyseal medullary stenosis-bone malignancy syndrome skeletal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007205 MONDO:0019060 False diaphyseal medullary stenosis-bone malignancy syndrome bone neoplasm UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007205 MONDO:0023603 False diaphyseal medullary stenosis-bone malignancy syndrome hereditary disorder of connective tissue UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007205 MONDO:0800159 False diaphyseal medullary stenosis-bone malignancy syndrome disorder of polyamine metabolism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007206 MONDO:0003847 False bone pain, periodic hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007207 MONDO:0019287 False Böök syndrome ectodermal dysplasia syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0007208 MONDO:0005516 False Boomerang dysplasia osteochondrodysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0007208 MONDO:0019690 False Boomerang dysplasia filamin-related bone disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007209 MONDO:0019698 False Weismann-Netter syndrome bent bone dysplasia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007210 MONDO:0003847 False Brachmann-de Lange-like facial changes with microcephaly, metatarsus adductus, and developmental delay hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007211 MONDO:0002254 False brachydactyly-arterial hypertension syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0007211 MONDO:0018234 False brachydactyly-arterial hypertension syndrome dysostosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0007211 MONDO:0019054 False brachydactyly-arterial hypertension syndrome congenital limb malformation UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007211 MONDO:0021004 False brachydactyly-arterial hypertension syndrome brachydactyly UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0007212 MONDO:0016432 False brachydactyly-long thumb syndrome heart-hand syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007213 MONDO:0021004 False Ballard syndrome brachydactyly UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0007214 MONDO:0019054 False brachydactyly-preaxial hallux varus syndrome congenital limb malformation UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007215 MONDO:0021004 False brachydactyly type A1 brachydactyly UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0007216 MONDO:0002254 False brachydactyly type A2 syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0007216 MONDO:0021004 False brachydactyly type A2 brachydactyly UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0007217 MONDO:0021004 False brachydactyly type A3 brachydactyly UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0007218 MONDO:0021004 False brachydactyly type A4 brachydactyly UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0007219 MONDO:0021004 False Osebold-Remondini syndrome brachydactyly UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0007220 MONDO:0019676 False brachydactyly type B1 brachydactyly type B UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007221 MONDO:0021004 False brachydactyly type C brachydactyly UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0007222 MONDO:0021004 False brachydactyly type D brachydactyly UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0007223 MONDO:0019677 False brachydactyly type E1 brachydactyly type E UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007224 MONDO:0019677 False brachydactyly, type E, with atrial septal defect, type 2 brachydactyly type E UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007225 MONDO:0002254 False fibular aplasia-ectrodactyly syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007225 MONDO:0018230 False fibular aplasia-ectrodactyly syndrome skeletal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007225 MONDO:0018234 False fibular aplasia-ectrodactyly syndrome dysostosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007225 MONDO:0019054 False fibular aplasia-ectrodactyly syndrome congenital limb malformation UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007226 MONDO:0002254 False brachydactyly-nystagmus-cerebellar ataxia syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007226 MONDO:0015159 False brachydactyly-nystagmus-cerebellar ataxia syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007227 MONDO:0002254 False Sillence syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007228 MONDO:0003847 False brachymesomelia-renal syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007229 MONDO:0003847 False Brachymetatarsus 4 hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -21707,45 +15516,67 @@ MONDO:0007230 MONDO:0002254 False Brachymorphism-onychodysplasia-dysphalangism s MONDO:0007230 MONDO:0003847 False Brachymorphism-onychodysplasia-dysphalangism syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007230 MONDO:0005172 False Brachymorphism-onychodysplasia-dysphalangism syndrome skeletal system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007230 MONDO:0015160 False Brachymorphism-onychodysplasia-dysphalangism syndrome multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007230 MONDO:0019054 False Brachymorphism-onychodysplasia-dysphalangism syndrome congenital limb malformation UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007231 MONDO:0002254 False brachytelephalangy-dysmorphism-Kallmann syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007231 MONDO:0015161 False brachytelephalangy-dysmorphism-Kallmann syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007231 MONDO:0015770 False brachytelephalangy-dysmorphism-Kallmann syndrome congenital hypogonadotropic hypogonadism UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007231 MONDO:0018234 False brachytelephalangy-dysmorphism-Kallmann syndrome dysostosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007231 MONDO:0019054 False brachytelephalangy-dysmorphism-Kallmann syndrome congenital limb malformation UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007232 MONDO:0000426 False autosomal dominant brachyolmia autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007232 MONDO:0015262 False autosomal dominant brachyolmia brachyolmia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007232 MONDO:0018240 False autosomal dominant brachyolmia TRPV4-related bone disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007233 MONDO:0015476 False second branchial cleft anomaly cysts and fistulae of the face and oral cavity UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007233 MONDO:0018751 False second branchial cleft anomaly hereditary otorhinolaryngologic disease UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007234 MONDO:0003847 False branchial myoclonus with spastic paraparesis and cerebellar ataxia hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007235 MONDO:0000426 False branchiooculofacial syndrome autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0007235 MONDO:0015161 False branchiooculofacial syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007236 MONDO:0007029 False branchiootorenal syndrome 1 branchio-oto-renal syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0007237 MONDO:0002657 False familial juvenile hypertrophy of the breast breast disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007237 MONDO:0003847 False familial juvenile hypertrophy of the breast hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007238 MONDO:0015855 False amastia isolated congenital breast hypoplasia/aplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007239 MONDO:0017266 False epidermolytic ichthyosis keratinopathic ichthyosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007240 MONDO:0005449 False progressive familial heart block, type 1A conduction system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007240 MONDO:0007263 False progressive familial heart block, type 1A cardiac rhythm disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007241 MONDO:0003847 False bundle branch block, familial isolated complete right hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007242 MONDO:0003847 False butyrylesterase 1 hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007243 MONDO:0003847 False Burkitt lymphoma hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0007244 MONDO:0002185 False Caffey disease hyperostosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0007243 MONDO:0017343 False Burkitt lymphoma Epstein-Barr virus-associated malignant lymphoproliferative disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007244 MONDO:0002614 False Caffey disease bone inflammation disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0007244 MONDO:0019702 False Caffey disease neonatal osteosclerotic dysplasia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007245 MONDO:0019289 False cafe au lait spots, multiple hyperpigmentation of the skin UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007246 MONDO:0003847 False calcific aortic disease with immunologic abnormalities, familial hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007247 MONDO:0008947 False basal ganglia calcification, idiopathic, childhood-onset bilateral striopallidodentate calcinosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0007247 MONDO:0018866 False basal ganglia calcification, idiopathic, childhood-onset Aicardi-Goutieres syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0007247 MONDO:0700007 False basal ganglia calcification, idiopathic, childhood-onset idiopathic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007248 MONDO:0017672 False hereditary painful callosities focal palmoplantar keratoderma UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007249 MONDO:0021004 False camptobrachydactyly brachydactyly UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007250 MONDO:0021147 False camptodactyly of fingers disorder of development or morphogenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007251 MONDO:0005151 False campomelic dysplasia endocrine system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0007251 MONDO:0005516 False campomelic dysplasia osteochondrodysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0007251 MONDO:0015160 False campomelic dysplasia multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007251 MONDO:0019698 False campomelic dysplasia bent bone dysplasia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007252 MONDO:0015161 False Gordon syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007253 MONDO:0003847 False cancer, familial, with in vitro Radioresistance hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007254 MONDO:0003274 False breast cancer thoracic cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0007258 MONDO:0003847 False canine teeth, absence of upper permanent hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007259 MONDO:0015159 False craniofaciofrontodigital syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007259 MONDO:0100237 False craniofaciofrontodigital syndrome inherited cutis laxa UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0007260 MONDO:0003847 False Car factor deficiency hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007261 MONDO:0003847 False Carabelli anomaly of maxillary molar teeth hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007263 MONDO:0005267 False cardiac rhythm disease heart disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007269 MONDO:0002254 False dilated cardiomyopathy 1A syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0007271 MONDO:0021154 False familial cutaneous collagenoma dermis disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007272 MONDO:0017758 False hereditary hypercarotenemia and vitamin A deficiency disorder of vitamin and non-protein cofactor absorption and transport UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007273 MONDO:0002714 False paragangliomas 4 central nervous system cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007273 MONDO:0002817 False paragangliomas 4 adrenal gland cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007273 MONDO:0006295 False paragangliomas 4 malignant urinary system neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007273 MONDO:0017366 False paragangliomas 4 hereditary pheochromocytoma-paraganglioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007273 MONDO:0021089 False paragangliomas 4 peripheral nervous system cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007274 MONDO:0003847 False carpal displacement hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007275 MONDO:0003615 False carpal tunnel syndrome nerve compression syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0007275 MONDO:0020127 False carpal tunnel syndrome hereditary peripheral neuropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007276 MONDO:0002254 False cat-eye syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007276 MONDO:0003847 False cat-eye syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007277 MONDO:0000426 False cataract-aberrant oral frenula-growth delay syndrome autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007277 MONDO:0015161 False cataract-aberrant oral frenula-growth delay syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007278 MONDO:0011060 False cataract 32 multiple types early-onset non-syndromic cataract UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0007279 MONDO:0020374 False cataract 7 cerulean cataract UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007280 MONDO:0011060 False cataract 8 multiple types early-onset non-syndromic cataract UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING @@ -21756,10 +15587,16 @@ MONDO:0007287 MONDO:0020376 False cataract 41 early-onset nuclear cataract UNSUP MONDO:0007288 MONDO:0011060 False cataract 6 multiple types early-onset non-syndromic cataract UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0007289 MONDO:0011060 False cataract 13 with adult I phenotype early-onset non-syndromic cataract UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0007290 MONDO:0011060 False cataract 5 multiple types early-onset non-syndromic cataract UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING -MONDO:0007294 MONDO:0018943 False central core myopathy myofibrillar myopathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS MONDO:0007294 MONDO:0100150 False central core myopathy RYR1-related myopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007294 MONDO:0100196 False central core myopathy TPM2-related myopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007295 MONDO:0000414 False childhood epilepsy with centrotemporal spikes childhood electroclinical syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0007295 MONDO:0017704 False childhood epilepsy with centrotemporal spikes familial partial epilepsy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007296 MONDO:0019793 False spinocerebellar ataxia type 31 autosomal dominant cerebellar ataxia type III UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007297 MONDO:0005620 False ADan amyloidosis cerebral amyloid angiopathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0007297 MONDO:0018591 False ADan amyloidosis ITM2B amyloidosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007298 MONDO:0019792 False spinocerebellar ataxia type 29 autosomal dominant cerebellar ataxia type I UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007300 MONDO:0002216 False cerebral sarcoma brain sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007301 MONDO:0002254 False cerebrocostomandibular syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0007301 MONDO:0015160 False cerebrocostomandibular syndrome multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007301 MONDO:0018230 False cerebrocostomandibular syndrome skeletal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007302 MONDO:0003847 False cervical hypertrichosis with underlying kyphoscoliosis hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -21768,44 +15605,66 @@ MONDO:0007303 MONDO:0005381 False cervical rib disease bone disorder UNSUPPORTED MONDO:0007304 MONDO:0003847 False cervical vertebral Bridge hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007305 MONDO:0003847 False cervical vertebral dysplasia hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007307 MONDO:0011909 False Charcot-Marie-Tooth disease type 1B Charcot-Marie-Tooth disease dominant intermediate D UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS +MONDO:0007307 MONDO:0019011 False Charcot-Marie-Tooth disease type 1B Charcot-Marie-Tooth disease type 1 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0007308 MONDO:0018993 False Charcot-Marie-Tooth disease type 2A1 Charcot-Marie-Tooth disease type 2 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0007309 MONDO:0016950 False Charcot-Marie-Tooth disease type 1A partial duplication of the short arm of chromosome 17 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007309 MONDO:0019011 False Charcot-Marie-Tooth disease type 1A Charcot-Marie-Tooth disease type 1 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0007310 MONDO:0015626 False Charcot-Marie-Tooth disease, Guadalajara neuronal type Charcot-Marie-Tooth disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0007311 MONDO:0019011 False Charcot-Marie-Tooth disease type 1E Charcot-Marie-Tooth disease type 1 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0007312 MONDO:0015626 False Charcot-Marie-Tooth disease with ptosis and parkinsonism Charcot-Marie-Tooth disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0007313 MONDO:0005093 False cheilitis glandularis skin disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007314 MONDO:0003847 False chemodectoma, intraabdominal, with cutaneous angiolipomas hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007315 MONDO:0000426 False cherubism autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0007315 MONDO:0005172 False cherubism skeletal system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007315 MONDO:0015356 False cherubism hereditary neoplastic syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007315 MONDO:0015161 False cherubism multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007315 MONDO:0019751 False cherubism autoinflammatory syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007315 MONDO:0023603 False cherubism hereditary disorder of connective tissue UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007316 MONDO:0000115 False Chiari malformation type I Chiari malformation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007318 MONDO:0002254 False Alagille syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0007316 MONDO:0018075 False Chiari malformation type I neural tube defect UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007318 MONDO:0003847 False Alagille syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0007318 MONDO:0004868 False Alagille syndrome biliary tract disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0007318 MONDO:0005267 False Alagille syndrome heart disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0007318 MONDO:0005328 False Alagille syndrome eye disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0007318 MONDO:0015161 False Alagille syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007319 MONDO:0001314 False chondrocalcinosis 2 chondrocalcinosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007319 MONDO:0005554 False chondrocalcinosis 2 rheumatic disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007319 MONDO:0019052 False chondrocalcinosis 2 inborn errors of metabolism UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007319 MONDO:0023603 False chondrocalcinosis 2 hereditary disorder of connective tissue UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007319 MONDO:0800096 False chondrocalcinosis 2 abnormal mineralization disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007320 MONDO:0001314 False chondrocalcinosis due to apatite crystal deposition chondrocalcinosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007321 MONDO:0000426 False autosomal dominant chondrodysplasia punctata autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0007321 MONDO:0002254 False autosomal dominant chondrodysplasia punctata syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0007321 MONDO:0015775 False autosomal dominant chondrodysplasia punctata non-rhizomelic chondrodysplasia punctata UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007322 MONDO:0007321 False chondrodysplasia punctata, tibial-metacarpal type autosomal dominant chondrodysplasia punctata UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0007323 MONDO:0003847 False Chondronectin hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007325 MONDO:0001595 False choreoathetosis, familial inverted choreatic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007325 MONDO:0003847 False choreoathetosis, familial inverted hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007327 MONDO:0018637 False chylomicronemia, familial, due to circulating inhibitor of lipoprotein lipase familial chylomicronemia syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0007328 MONDO:0003847 False choroidal osteoma, bilateral hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007329 MONDO:0003847 False cirrhosis, familial hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007329 MONDO:0005155 False cirrhosis, familial cirrhosis of liver UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007329 MONDO:0100137 False cirrhosis, familial telomere syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007330 MONDO:0003847 False congenital pseudoarthrosis of clavicle hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007330 MONDO:0018234 False congenital pseudoarthrosis of clavicle dysostosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007332 MONDO:0018050 False split-hand/foot malformation with long bone deficiency 1 tibial aplasia-ectrodactyly syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007333 MONDO:0003847 False van der Woude syndrome 1 hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007333 MONDO:0019508 False van der Woude syndrome 1 van der Woude syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007334 MONDO:0000426 False autosomal dominant popliteal pterygium syndrome autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007334 MONDO:0015160 False autosomal dominant popliteal pterygium syndrome multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007340 MONDO:0002254 False cleidocranial dysplasia 1 syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0007334 MONDO:0017435 False autosomal dominant popliteal pterygium syndrome popliteal pterygium syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007336 MONDO:0016064 False isolated cleft palate cleft palate UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0007337 MONDO:0015161 False cleft palate-lateral synechia syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007338 MONDO:0016064 False cleft soft palate cleft palate UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0007339 MONDO:0000426 False blepharocheilodontic syndrome autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0007339 MONDO:0015161 False blepharocheilodontic syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007339 MONDO:0019287 False blepharocheilodontic syndrome ectodermal dysplasia syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS +MONDO:0007339 MONDO:0020161 False blepharocheilodontic syndrome congenital ectropion UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007340 MONDO:0005516 False cleidocranial dysplasia 1 osteochondrodysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0007340 MONDO:0018230 False cleidocranial dysplasia 1 skeletal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007341 MONDO:0002254 False cleidorhizomelic syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007341 MONDO:0018230 False cleidorhizomelic syndrome skeletal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007342 MONDO:0016046 False clubfoot familial clubfoot with or without associated lower limb anomalies UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007342 MONDO:0019713 False clubfoot non-syndromic limb reduction defect UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007343 MONDO:0019284 False isolated congenital digital clubbing inherited isolated nail anomaly UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0007343 MONDO:0021147 False isolated congenital digital clubbing disorder of development or morphogenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007344 MONDO:0003847 False cluster headache, familial hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007344 MONDO:0043537 False cluster headache, familial cluster headache syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -21816,9 +15675,14 @@ MONDO:0007346 MONDO:0002254 False cochleosaccular degeneration-cataract syndrome MONDO:0007350 MONDO:0001476 False coloboma, ocular, autosomal dominant coloboma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007351 MONDO:0001476 False coloboma of macula coloboma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007351 MONDO:0020242 False coloboma of macula hereditary macular dystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007352 MONDO:0000426 False renal coloboma syndrome autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0007353 MONDO:0020242 False coloboma of macula-brachydactyly type B syndrome hereditary macular dystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007354 MONDO:0001476 False coloboma of optic nerve coloboma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0007354 MONDO:0001834 False coloboma of optic nerve visual pathway disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0007354 MONDO:0003847 False coloboma of optic nerve hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0007355 MONDO:0003847 False uveal coloboma-cleft lip and palate-intellectual disability hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0007355 MONDO:0015159 False uveal coloboma-cleft lip and palate-intellectual disability multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007356 MONDO:0000426 False Lynch syndrome 1 autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0007357 MONDO:0003847 False colonic varices without portal hypertension hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007358 MONDO:0003847 False comedones, familial Dyskeratotic hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007359 MONDO:0003847 False commissural lip pits hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -21827,46 +15691,89 @@ MONDO:0007361 MONDO:0000015 False C1 inhibitor deficiency classic complement ear MONDO:0007361 MONDO:0027749 False C1 inhibitor deficiency serpinopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007362 MONDO:0019200 False cone-rod dystrophy 2 retinitis pigmentosa UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS MONDO:0007363 MONDO:0002320 False congenital contractural arachnodactyly congenital nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0007363 MONDO:0008779 False congenital contractural arachnodactyly arthrogryposis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007363 MONDO:0017310 False congenital contractural arachnodactyly Marfan and Marfan-related disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007364 MONDO:0019942 False arthrogryposis, distal, type 2E distal arthrogryposis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0007368 MONDO:0017762 False familial benign copper deficiency disorder of copper metabolism UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007369 MONDO:0002520 False hereditary coproporphyria hepatic porphyria UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0007369 MONDO:0800180 False hereditary coproporphyria CPOX-related hereditary coproporphyria UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007370 MONDO:0003847 False coracoclavicular joint, anomalous hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007371 MONDO:0003847 False cornea guttata with anterior polar cataracts hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007373 MONDO:0003847 False corneal degeneration, ribbonlike, with deafness hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007374 MONDO:0003847 False Schnyder corneal dystrophy hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0007374 MONDO:0020213 False Schnyder corneal dystrophy stromal corneal dystrophy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0007375 MONDO:0000763 False epithelial basement membrane dystrophy epithelial and subepithelial corneal dystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0007375 MONDO:0000764 False epithelial basement membrane dystrophy epithelial-stromal TGFBI dystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0007375 MONDO:0020212 False epithelial basement membrane dystrophy superficial corneal dystrophy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007376 MONDO:0003847 False fleck corneal dystrophy hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0007376 MONDO:0020213 False fleck corneal dystrophy stromal corneal dystrophy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0007377 MONDO:0000764 False granular corneal dystrophy type I epithelial-stromal TGFBI dystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0007377 MONDO:0020213 False granular corneal dystrophy type I stromal corneal dystrophy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0007379 MONDO:0000763 False Meesmann corneal dystrophy epithelial and subepithelial corneal dystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0007379 MONDO:0003847 False Meesmann corneal dystrophy hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0007379 MONDO:0020212 False Meesmann corneal dystrophy superficial corneal dystrophy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007380 MONDO:0000764 False lattice corneal dystrophy type I epithelial-stromal TGFBI dystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007380 MONDO:0004686 False lattice corneal dystrophy type I lattice corneal dystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007381 MONDO:0003847 False epithelial recurrent erosion dystrophy hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0007381 MONDO:0020212 False epithelial recurrent erosion dystrophy superficial corneal dystrophy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007382 MONDO:0015159 False Ramos-Arroyo syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007383 MONDO:0019287 False Stern-Lubinsky-Durrie syndrome ectodermal dysplasia syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0007383 MONDO:0024458 False Stern-Lubinsky-Durrie syndrome disorder of visual system UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007384 MONDO:0002320 False congenital trigeminal anesthesia congenital nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007384 MONDO:0020127 False congenital trigeminal anesthesia hereditary peripheral neuropathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007385 MONDO:0005385 False idiopathic spontaneous coronary artery dissection vascular disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007385 MONDO:0700007 False idiopathic spontaneous coronary artery dissection idiopathic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007387 MONDO:0019713 False Cornelia de Lange syndrome 1 non-syndromic limb reduction defect UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007388 MONDO:0015929 False congenitally short costocoracoid ligament thoracic malformation UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007390 MONDO:0003847 False coumarin resistance hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0007391 MONDO:0003847 False coxa vara hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007392 MONDO:0005381 False coxoauricular syndrome bone disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007393 MONDO:0003847 False cranioacrofacial syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007395 MONDO:0003847 False craniofacial-deafness-hand syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0007395 MONDO:0015161 False craniofacial-deafness-hand syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007396 MONDO:0002933 False dysostosis, Stanescu type osteosclerosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007398 MONDO:0003847 False craniorhiny hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007399 MONDO:0018971 False TWIST1-related craniosynostosis isolated oxycephaly UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007400 MONDO:0019796 False Jackson-Weiss syndrome acrocephalosyndactyly UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0007401 MONDO:0001150 False craniosynostosis-Dandy-Walker malformation-hydrocephalus syndrome hydrocephalus UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007401 MONDO:0015704 False craniosynostosis-Dandy-Walker malformation-hydrocephalus syndrome familial scaphocephaly syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007401 MONDO:0020022 False craniosynostosis-Dandy-Walker malformation-hydrocephalus syndrome central nervous system malformation UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007402 MONDO:0003847 False creatine phosphokinase, elevated serum hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007403 MONDO:0005357 False inherited Creutzfeldt-Jakob disease Creutzfeldt Jacob disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007403 MONDO:0005395 False inherited Creutzfeldt-Jakob disease movement disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007403 MONDO:0024237 False inherited Creutzfeldt-Jakob disease inherited neurodegenerative disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007404 MONDO:0016887 False Cri-du-chat syndrome partial deletion of the short arm of chromosome 5 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007405 MONDO:0015338 False Crouzon syndrome syndromic craniosynostosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007406 MONDO:0003847 False cryofibrinogenemia, familial primary hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007406 MONDO:0022904 False cryofibrinogenemia, familial primary cryofibrinogenemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007407 MONDO:0015491 False Cryoglobulinemic vasculitis immune complex mediated vasculitis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007408 MONDO:0003847 False cryptotia, familial hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007409 MONDO:0015161 False cryptomicrotia-brachydactyly-excess fingertip arch syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007410 MONDO:0020153 False isolated cryptophthalmia cryptophthalmia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0007411 MONDO:0019571 False cutis laxa, autosomal dominant 1 autosomal dominant cutis laxa UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0007412 MONDO:0000426 False Beare-Stevenson cutis gyrata syndrome autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0007412 MONDO:0015161 False Beare-Stevenson cutis gyrata syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007412 MONDO:0015338 False Beare-Stevenson cutis gyrata syndrome syndromic craniosynostosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007413 MONDO:0015161 False Cyprus facial-neuromusculoskeletal syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007413 MONDO:0020120 False Cyprus facial-neuromusculoskeletal syndrome skeletal muscle disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007414 MONDO:0002013 False Gorham-Stout disease lymphangioma UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007414 MONDO:0003157 False Gorham-Stout disease disappearing bone disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007414 MONDO:0005554 False Gorham-Stout disease rheumatic disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007414 MONDO:0700245 False Gorham-Stout disease syndromic disorder of cell proliferation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007416 MONDO:0005334 False Balkan nephropathy hereditary nephritis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007417 MONDO:0019268 False Darier disease epidermal disease UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007417 MONDO:0100118 False Darier disease hereditary skin disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007418 MONDO:0003847 False Darwinian tubercle of pinna hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007420 MONDO:0002051 False autosomal dominant deafness - onychodystrophy syndrome integumentary system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0007420 MONDO:0002254 False autosomal dominant deafness - onychodystrophy syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0007420 MONDO:0003847 False autosomal dominant deafness - onychodystrophy syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0007421 MONDO:0003847 False deafness-ear malformation-facial palsy syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007422 MONDO:0002051 False keratoderma hereditarium mutilans integumentary system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0007422 MONDO:0003847 False keratoderma hereditarium mutilans hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0007423 MONDO:0003847 False deafness, mid-tone neural hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007425 MONDO:0003847 False deafness, sensorineural, with peripheral neuropathy and arterial disease hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007426 MONDO:0003847 False deafness, unilateral hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007427 MONDO:0003847 False deafness with anhidrotic ectodermal dysplasia hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007428 MONDO:0015161 False deafness-craniofacial syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007429 MONDO:0014720 False optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy autosomal dominant optic atrophy plus syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007430 MONDO:0003847 False dens evaginatus hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007431 MONDO:0003847 False dens in dente and palatal invaginations hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -21874,28 +15781,44 @@ MONDO:0007432 MONDO:0002254 False cerebral arteriopathy with subcortical infarct MONDO:0007432 MONDO:0003847 False cerebral arteriopathy with subcortical infarcts and leukoencephalopathy hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0007432 MONDO:0005385 False cerebral arteriopathy with subcortical infarcts and leukoencephalopathy vascular disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0007433 MONDO:0003847 False dementia/parkinsonism with non-Alzheimer amyloid plaques hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007434 MONDO:0003847 False primary failure of tooth eruption hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0007435 MONDO:0015548 False dentatorubral-pallidoluysian atrophy Huntington disease-like syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007435 MONDO:0019794 False dentatorubral-pallidoluysian atrophy autosomal dominant cerebellar ataxia type IV UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007436 MONDO:0003847 False dentin dysplasia type I hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007436 MONDO:0015613 False dentin dysplasia type I dentin dysplasia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007437 MONDO:0003847 False dentin dysplasia type II hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007437 MONDO:0015613 False dentin dysplasia type II dentin dysplasia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007438 MONDO:0003847 False dentin dysplasia-sclerotic bones syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007439 MONDO:0003847 False deoxyribose-5-phosphate aldolase deficiency hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007440 MONDO:0003847 False major affective disorder 1 hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007440 MONDO:0004985 False major affective disorder 1 bipolar disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007441 MONDO:0003847 False dentinogenesis imperfecta type 2 hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007441 MONDO:0018849 False dentinogenesis imperfecta type 2 dentinogenesis imperfecta UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007442 MONDO:0003847 False dentinogenesis imperfecta type 3 hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007442 MONDO:0018849 False dentinogenesis imperfecta type 3 dentinogenesis imperfecta UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007443 MONDO:0018923 False congenital unilateral hypoplasia of depressor anguli oris 22q11.2 deletion syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007444 MONDO:0003847 False dermal Ridges, patternless hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007445 MONDO:0017666 False dermatopathia pigmentosa reticularis diffuse palmoplantar keratoderma UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007445 MONDO:0019287 False dermatopathia pigmentosa reticularis ectodermal dysplasia syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS +MONDO:0007445 MONDO:0019289 False dermatopathia pigmentosa reticularis hyperpigmentation of the skin UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007446 MONDO:0100118 False dermatosis papulosa nigra hereditary skin disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007447 MONDO:0000426 False autosomal dominant vibratory urticaria autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007447 MONDO:0006618 False autosomal dominant vibratory urticaria vibratory urticaria UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007447 MONDO:0100118 False autosomal dominant vibratory urticaria hereditary skin disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007448 MONDO:0006599 False familial dermatographia physical urticaria UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0007449 MONDO:0019287 False dermo-odonto dysplasia ectodermal dysplasia syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0007450 MONDO:0000426 False neurohypophyseal diabetes insipidus autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0007450 MONDO:0003381 False neurohypophyseal diabetes insipidus pituitary gland disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0007450 MONDO:0015790 False neurohypophyseal diabetes insipidus central diabetes insipidus UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0007450 MONDO:0100191 False neurohypophyseal diabetes insipidus inherited kidney disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007451 MONDO:0016383 False diabetes insipidus, nephrogenic, autosomal nephrogenic diabetes insipidus UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0007454 MONDO:0010255 False type 1 diabetes mellitus 2 diabetes mellitus, insulin-dependent, X-linked, susceptibility to UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0007456 MONDO:0003847 False diarrhea, glucose-stimulated secretory, with common variable immunodeficiency hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007457 MONDO:0003847 False diastema, dental medial hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007458 MONDO:0015240 False digitotalar dysmorphism; ulnar drift, hereditary digitotalar dysmorphism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007459 MONDO:0003847 False dilution, pigmentary hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007460 MONDO:0003847 False discrimination, Two-point, reduction 1N hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007461 MONDO:0015161 False short stature-valvular heart disease-characteristic facies syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007462 MONDO:0020573 False multiple sclerosis, susceptibility to inherited disease susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007463 MONDO:0003847 False distal osteosclerosis hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007465 MONDO:0003847 False distichiasis with congenital anomalies of the heart and peripheral vasculature hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -21903,27 +15826,40 @@ MONDO:0007466 MONDO:0003847 False DNA, satellite, 3 hereditary disease UNSUPPORT MONDO:0007467 MONDO:0003847 False DNA, low-repetitive sequences of hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007469 MONDO:0003847 False double nail for fifth toe hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007470 MONDO:0800064 False calvarial doughnut lesions-bone fragility syndrome osteogenesis imperfecta and a reduction of bone mineral density. UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007471 MONDO:0006949 False Doyne honeycomb retinal dystrophy retinal drusen UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0007471 MONDO:0016420 False Doyne honeycomb retinal dystrophy familial flecked retinopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007472 MONDO:0001666 False basal laminar drusen retinal dystrophies primarily involving Bruch's membrane UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0007473 MONDO:0002254 False Duane retraction syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0007472 MONDO:0006949 False basal laminar drusen retinal drusen UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0007473 MONDO:0003847 False Duane retraction syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0007473 MONDO:0015083 False Duane retraction syndrome nuclear oculomotor paralysis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007474 MONDO:0003847 False duodenal ulcer due to antral G-cell hyperfunction hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007475 MONDO:0003847 False duodenal ulcer, hyperpepsinogenemic 1 hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007476 MONDO:0002531 False familial Dupuytren contracture skin neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007476 MONDO:0016037 False familial Dupuytren contracture superficial Fibromatosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007478 MONDO:0800063 False autosomal dominant Kenny-Caffey syndrome primordial dwarfism and slender bone disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007477 MONDO:0002254 False 3-M syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0007477 MONDO:0006025 False 3-M syndrome autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0007477 MONDO:0015161 False 3-M syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007478 MONDO:0000426 False autosomal dominant Kenny-Caffey syndrome autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0007479 MONDO:0003847 False dwarfism, Levi type hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007480 MONDO:0003847 False dwarfism with stiff joints and ocular abnormalities hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007481 MONDO:0005516 False Leri-Weill dyschondrosteosis osteochondrodysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0007481 MONDO:0018230 False Leri-Weill dyschondrosteosis skeletal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007482 MONDO:0002254 False dyschondrosteosis-nephritis syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007482 MONDO:0018230 False dyschondrosteosis-nephritis syndrome skeletal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007483 MONDO:0019289 False dyschromatosis symmetrica hereditaria hyperpigmentation of the skin UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007485 MONDO:0100137 False dyskeratosis congenita, autosomal dominant 1 telomere syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007486 MONDO:0002254 False hereditary benign intraepithelial dyskeratosis syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007486 MONDO:0020212 False hereditary benign intraepithelial dyskeratosis superficial corneal dystrophy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007487 MONDO:0020573 False dyslexia, susceptibility to, 1 inherited disease susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007488 MONDO:0000510 False Lewy body dementia synucleinopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0007488 MONDO:0015547 False Lewy body dementia hereditary dementia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007489 MONDO:0018230 False dysplasia epiphysealis hemimelica skeletal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007490 MONDO:0018230 False carpotarsal osteochondromatosis skeletal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007491 MONDO:0003847 False dystelephalangy hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007492 MONDO:0100016 False early-onset generalized limb-onset dystonia early-onset generalized dystonia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007493 MONDO:0015990 False torsion dystonia 4 focal, segmental or multifocal dystonia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007495 MONDO:0016812 False dystonia 5 dopa-responsive dystonia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007495 MONDO:0100184 False dystonia 5 GTP cyclohydrolase I deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007496 MONDO:0020065 False dystonia 12 combined dystonia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007496 MONDO:0021095 False dystonia 12 parkinsonian disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0007496 MONDO:0700002 False dystonia 12 ATP1A3-associated neurological disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007497 MONDO:0003847 False ear antitragus, tag at base of hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -21935,52 +15871,88 @@ MONDO:0007502 MONDO:0003847 False ear pits, posterior helical hereditary disease MONDO:0007503 MONDO:0010920 False ear without helix microtia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0007504 MONDO:0003847 False thickened earlobes-conductive deafness syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007505 MONDO:0003847 False earring holes, natural hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007507 MONDO:0019268 False absence of fingerprints-congenital milia syndrome epidermal disease UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007507 MONDO:0100118 False absence of fingerprints-congenital milia syndrome hereditary skin disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007508 MONDO:0000426 False Rapp-Hodgkin syndrome autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0007508 MONDO:0004747 False Rapp-Hodgkin syndrome cleft lip UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0007508 MONDO:0016064 False Rapp-Hodgkin syndrome cleft palate UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0007508 MONDO:0019287 False Rapp-Hodgkin syndrome ectodermal dysplasia syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS MONDO:0007509 MONDO:0015884 False ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant autosomal dominant hypohidrotic ectodermal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007510 MONDO:0017666 False Clouston syndrome diffuse palmoplantar keratoderma UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007511 MONDO:0019287 False ectodermal dysplasia, trichoodontoonychial type ectodermal dysplasia syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0007512 MONDO:0003847 False ectodermal dysplasia syndrome with distinctive facial appearance and preaxial polydactyly of feet hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007513 MONDO:0003847 False ectodermal dysplasia with adrenal cyst hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007514 MONDO:0003847 False ectopia lentis 1, isolated, autosomal dominant hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0007514 MONDO:0015998 False ectopia lentis 1, isolated, autosomal dominant isolated ectopia lentis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0007515 MONDO:0003847 False ectopia pupillae hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007516 MONDO:0003847 False ectrodactyly and ectodermal dysplasia without cleft lip/palate hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007517 MONDO:0003847 False ectrodactyly-cleft palate syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007518 MONDO:0003847 False edema, familial idiopathic, prepubertal hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007518 MONDO:0700007 False edema, familial idiopathic, prepubertal idiopathic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007519 MONDO:0043009 False Edinburgh malformation syndrome hereditary lethal multiple congenital anomalies/dysmorphic syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007520 MONDO:0010004 False ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 1 EEC syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS MONDO:0007522 MONDO:0000426 False Ehlers-Danlos syndrome, classic type autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007522 MONDO:0020066 False Ehlers-Danlos syndrome, classic type Ehlers-Danlos syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007524 MONDO:0000426 False autosomal dominant Ehlers-Danlos syndrome, vascular type autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0007524 MONDO:0017314 False autosomal dominant Ehlers-Danlos syndrome, vascular type Ehlers-Danlos syndrome, vascular type UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007526 MONDO:0015327 False Ehlers-Danlos syndrome, spondylodysplastic type developmental anomaly of metabolic origin UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007526 MONDO:0019052 False Ehlers-Danlos syndrome, spondylodysplastic type inborn errors of metabolism UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0007526 MONDO:0020066 False Ehlers-Danlos syndrome, spondylodysplastic type Ehlers-Danlos syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0007527 MONDO:0020066 False Ehlers-Danlos syndrome, periodontitis type Ehlers-Danlos syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007528 MONDO:0020066 False Ehlers-Danlos syndrome, autosomal dominant, type unspecified Ehlers-Danlos syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0007529 MONDO:0021154 False elastosis perforans serpiginosa dermis disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007530 MONDO:0003847 False electroencephalographic peculiarity: 14 and 6 per sec. positive spike phenomenon hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007531 MONDO:0003847 False electroencephalographic peculiarity: fronto-precentral beta wave groups hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007533 MONDO:0003689 False elliptocytosis 2 familial hemolytic anemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007533 MONDO:0017319 False elliptocytosis 2 hereditary elliptocytosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007534 MONDO:0019716 False Beckwith-Wiedemann syndrome overgrowth syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007534 MONDO:0024573 False Beckwith-Wiedemann syndrome familial hypertrophic cardiomyopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS MONDO:0007535 MONDO:0003847 False emphysema, hereditary pulmonary hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007535 MONDO:0004849 False emphysema, hereditary pulmonary pulmonary emphysema UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007536 MONDO:0004849 False congenital lobar emphysema pulmonary emphysema UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007537 MONDO:0003847 False lateral meningocele syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0007537 MONDO:0018075 False lateral meningocele syndrome neural tube defect UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0007539 MONDO:0002254 False encephalopathy, recurrent, of childhood syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007539 MONDO:0005560 False encephalopathy, recurrent, of childhood brain disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007539 MONDO:0100198 False encephalopathy, recurrent, of childhood Mendelian encephalopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007540 MONDO:0000426 False multiple endocrine neoplasia type 1 autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0007540 MONDO:0016365 False multiple endocrine neoplasia type 1 familial primary hyperparathyroidism UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007540 MONDO:0021227 False multiple endocrine neoplasia type 1 adrenal gland neoplasm UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007541 MONDO:0020573 False endometriosis, susceptibility to, 1 inherited disease susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007542 MONDO:0002254 False Camurati-Engelmann disease syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0007542 MONDO:0018230 False Camurati-Engelmann disease skeletal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007544 MONDO:0003847 False eosinophilia, familial hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007545 MONDO:0003847 False Eosinophilopenia hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007546 MONDO:0019452 False myeloproliferative disorder, chronic, with eosinophilia myeloproliferative neoplasm, unclassifiable UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007546 MONDO:0023603 False myeloproliferative disorder, chronic, with eosinophilia hereditary disorder of connective tissue UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007547 MONDO:0003847 False epidermoid cysts hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007548 MONDO:0006543 False transient bullous dermolysis of the newborn epidermolysis bullosa dystrophica UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0007549 MONDO:0006543 False generalized dominant dystrophic epidermolysis bullosa epidermolysis bullosa dystrophica UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0007552 MONDO:0006543 False pretibial dystrophic epidermolysis bullosa epidermolysis bullosa dystrophica UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0007553 MONDO:0003847 False epidermolysis bullosa with deficiency of galactosylhydroxylysyl glucosyltransferase hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007566 MONDO:0015356 False multiple self-healing squamous epithelioma hereditary neoplastic syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007557 MONDO:0003847 False epidermolysis bullosa with congenital localized absence of skin and deformity of nails hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0007558 MONDO:0015650 False benign occipital epilepsy epilepsy syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007560 MONDO:0017768 False reading seizures reflex epilepsy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007562 MONDO:0016648 False multiple epiphyseal dysplasia, Beighton type multiple epiphyseal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS +MONDO:0007562 MONDO:0022800 False multiple epiphyseal dysplasia, Beighton type type 2 collagenopathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007565 MONDO:0011512 False familial cylindromatosis Brooke-Spiegler syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0007569 MONDO:0003847 False erythema nodosum, familial hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007570 MONDO:0005093 False erythema palmare hereditarium skin disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007571 MONDO:0016028 False primary erythermalgia erythromelalgia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007573 MONDO:0020573 False erythroleukemia, familial, susceptibility to inherited disease susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007573 MONDO:0015356 False erythroleukemia, familial, susceptibility to hereditary neoplastic syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007574 MONDO:0019270 False spinocerebellar ataxia type 34 erythrokeratoderma UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007574 MONDO:0019792 False spinocerebellar ataxia type 34 autosomal dominant cerebellar ataxia type I UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007574 MONDO:0100118 False spinocerebellar ataxia type 34 hereditary skin disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007576 MONDO:0003274 False esophageal cancer thoracic cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0007577 MONDO:0003847 False esophageal ring, lower hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007581 MONDO:0003847 False exchondrosis of pinna, posterior hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007584 MONDO:0003847 False exostoses-anetodermia-brachydactyly type E syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007585 MONDO:0005508 False exostoses, multiple, type 1 hereditary multiple osteochondromas UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0007586 MONDO:0005508 False exostoses, multiple, type 2 hereditary multiple osteochondromas UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0007587 MONDO:0015161 False external auditory canal atresia-vertical talus-hypertelorism syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007587 MONDO:0018234 False external auditory canal atresia-vertical talus-hypertelorism syndrome dysostosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007587 MONDO:0024623 False external auditory canal atresia-vertical talus-hypertelorism syndrome otorhinolaryngologic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007588 MONDO:0015159 False extrasystoles-short stature-hyperpigmentation-microcephaly syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007588 MONDO:0019289 False extrasystoles-short stature-hyperpigmentation-microcephaly syndrome hyperpigmentation of the skin UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007590 MONDO:0019716 False hemifacial hypertrophy overgrowth syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007592 MONDO:0020127 False familial recurrent peripheral facial palsy hereditary peripheral neuropathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007593 MONDO:0003847 False facial spasm hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007594 MONDO:0100240 False factor 5 excess with spontaneous thrombosis inherited thrombophilia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0007595 MONDO:0021181 False factor VII and Factor VIII, combined deficiency of inherited blood coagulation disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -21990,19 +15962,35 @@ MONDO:0007599 MONDO:0003847 False factor 9 and Factor XI, combined deficiency of MONDO:0007600 MONDO:0100238 False primary Fanconi syndrome inherited Fanconi renotubular syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007601 MONDO:0018088 False familial Mediterranean fever, autosomal dominant familial Mediterranean fever UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007603 MONDO:0008383 False Felty syndrome rheumatoid arthritis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS +MONDO:0007604 MONDO:0015161 False femoral-facial syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007604 MONDO:0018234 False femoral-facial syndrome dysostosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007604 MONDO:0019054 False femoral-facial syndrome congenital limb malformation UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007604 MONDO:0019713 False femoral-facial syndrome non-syndromic limb reduction defect UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007605 MONDO:0003847 False fibrinolytic defect hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007606 MONDO:0005172 False fibrodysplasia ossificans progressiva skeletal system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007606 MONDO:0019296 False fibrodysplasia ossificans progressiva subcutaneous tissue disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007608 MONDO:0023603 False desmoid tumor hereditary disorder of connective tissue UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007610 MONDO:0019280 False gingival fibromatosis-hypertrichosis syndrome hypertrichosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007610 MONDO:0019287 False gingival fibromatosis-hypertrichosis syndrome ectodermal dysplasia syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0007612 MONDO:0021147 False gingival fibromatosis-progressive deafness syndrome disorder of development or morphogenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007614 MONDO:0001584 False congenital fibrosis of extraocular muscles ocular motility disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0007614 MONDO:0004746 False congenital fibrosis of extraocular muscles myopathy of extraocular muscle UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0007614 MONDO:0016106 False congenital fibrosis of extraocular muscles progressive muscular dystrophy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007615 MONDO:0019054 False laurin-Sandrow syndrome congenital limb malformation UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007615 MONDO:0800066 False laurin-Sandrow syndrome polydactyly-syndactyly-triphalangism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007616 MONDO:0003847 False fibula, recurrent dislocation of head of hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007617 MONDO:0000426 False Coffin-Siris syndrome 1 autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0007617 MONDO:0700120 False Coffin-Siris syndrome 1 BAFopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007618 MONDO:0021147 False Eng-Strom syndrome disorder of development or morphogenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007619 MONDO:0000426 False isolated congenital adermatoglyphia autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0007619 MONDO:0100118 False isolated congenital adermatoglyphia hereditary skin disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007620 MONDO:0018999 False fish eye disease LCAT deficiency UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007620 MONDO:0019052 False fish eye disease inborn errors of metabolism UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007621 MONDO:0003847 False Floating-Harbor syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0007621 MONDO:0015159 False Floating-Harbor syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007623 MONDO:0003847 False flushing of ears and somnolence hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007624 MONDO:0000426 False Flynn-Aird syndrome autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007624 MONDO:0019303 False Flynn-Aird syndrome premature aging syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007625 MONDO:0003847 False focal epithelial hyperplasia of the oral mucosa hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007626 MONDO:0001146 False familial congenital palsy of trochlear nerve fourth cranial nerve palsy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007626 MONDO:0002320 False familial congenital palsy of trochlear nerve congenital nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -22010,30 +15998,37 @@ MONDO:0007626 MONDO:0003847 False familial congenital palsy of trochlear nerve h MONDO:0007626 MONDO:0015083 False familial congenital palsy of trochlear nerve nuclear oculomotor paralysis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007628 MONDO:0800183 False foveal hypoplasia 1 PAX6-related ocular dysgenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007629 MONDO:0003847 False fragile site 10Q23 hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007631 MONDO:0002254 False chromosome 16p12.1 deletion syndrome, 520kb syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0007630 MONDO:0031166 False North Carolina macular dystrophy macular dystrophy, retinal UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0007631 MONDO:0003847 False chromosome 16p12.1 deletion syndrome, 520kb hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0007631 MONDO:0016894 False chromosome 16p12.1 deletion syndrome, 520kb partial deletion of the short arm of chromosome 16 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007633 MONDO:0003847 False Friedreich ataxia, so-called, with optic atrophy and sensorineural deafness hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007634 MONDO:0003847 False intellectual disability, FRA12A type hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007635 MONDO:0000426 False Frasier syndrome autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0007635 MONDO:0020040 False Frasier syndrome 46,XY disorder of sex development UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007638 MONDO:0003847 False fucosidase regulator hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007639 MONDO:0016420 False fundus albipunctatus familial flecked retinopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007639 MONDO:0100443 False fundus albipunctatus RDH5-related retinopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007639 MONDO:0100444 False fundus albipunctatus RLBP1-related retinopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007640 MONDO:0019118 False Sorsby fundus dystrophy inherited retinal dystrophy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0007642 MONDO:0004868 False isolated agenesis of gallbladder biliary tract disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007643 MONDO:0003847 False gamma-A-globulin, defect in assembly of hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007644 MONDO:0001341 False IgAD1 selective IgA deficiency disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007646 MONDO:0002254 False Gamstorp-Wohlfart syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0007646 MONDO:0003847 False Gamstorp-Wohlfart syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0007647 MONDO:0003847 False gastric volvulus, intrathoracic hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007648 MONDO:0018502 False hereditary diffuse gastric adenocarcinoma hereditary gastric cancer UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007650 MONDO:0003847 False MALT lymphoma hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0007651 MONDO:0019289 False gastrocutaneous syndrome hyperpigmentation of the skin UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007652 MONDO:0003847 False gastric mucosal hypertrophy hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0007653 MONDO:0018230 False genochondromatosis skeletal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007654 MONDO:0003847 False genu valgum, st. Helena familial hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007655 MONDO:0001165 False fissured tongue tongue disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0007656 MONDO:0003847 False Gerstmann-Straussler-Scheinker syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0007657 MONDO:0003847 False giant neutrophil leukocytes hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007660 MONDO:0002119 False familial ossifying fibroma ossifying fibroma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007660 MONDO:0023603 False familial ossifying fibroma hereditary disorder of connective tissue UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007661 MONDO:0002254 False Tourette syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0007661 MONDO:0002420 False Tourette syndrome tic disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0007661 MONDO:0003847 False Tourette syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0007661 MONDO:0005395 False Tourette syndrome movement disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0007662 MONDO:0019628 False anterior segment dysgenesis 4 Rieger anomaly UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007663 MONDO:0018174 False glaucoma with elevated episcleral venous pressure hereditary glaucoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007664 MONDO:0020367 False glaucoma 1, open angle, A juvenile open angle glaucoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -22041,8 +16036,10 @@ MONDO:0007666 MONDO:0002254 False glaucoma-sleep apnea syndrome syndromic diseas MONDO:0007666 MONDO:0005328 False glaucoma-sleep apnea syndrome eye disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007667 MONDO:0016697 False subependymoma low grade ependymoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007668 MONDO:0003847 False globulin anomaly involving beta (2A)-globulin hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007669 MONDO:0002254 False renal cysts and diabetes syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0007669 MONDO:0018911 False renal cysts and diabetes syndrome maturity-onset diabetes of the young UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS MONDO:0007670 MONDO:0002254 False hypotrichosis-lymphedema-telangiectasia syndrome (grouping) syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007670 MONDO:0019175 False hypotrichosis-lymphedema-telangiectasia syndrome (grouping) primary lymphedema UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007671 MONDO:0019722 False fibronectin glomerulopathy glomerular disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007671 MONDO:0100191 False fibronectin glomerulopathy inherited kidney disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007672 MONDO:0003847 False glomuvenous malformation hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0007672 MONDO:0024291 False glomuvenous malformation vascular malformation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -22053,73 +16050,118 @@ MONDO:0007676 MONDO:0003847 False glutathione transferase activity toward trans- MONDO:0007677 MONDO:0002118 False hyperglycinuria urinary system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007677 MONDO:0003847 False hyperglycinuria hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007679 MONDO:0002254 False GMS syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007680 MONDO:0015161 False multinodular goiter-cystic kidney-polydactyly syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007681 MONDO:0015356 False goiter, multinodular 1, with or without Sertoli-Leydig cell tumors hereditary neoplastic syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007682 MONDO:0003847 False granddad syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007683 MONDO:0003847 False Grant syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007685 MONDO:0003847 False granulosis rubra nasi hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007686 MONDO:0002254 False gray platelet syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0007686 MONDO:0020117 False gray platelet syndrome alpha granule disease UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007687 MONDO:0003847 False graying of hair, precocious hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007688 MONDO:0000508 False Myhre syndrome syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007688 MONDO:0002320 False Myhre syndrome congenital nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007688 MONDO:0015159 False Myhre syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007688 MONDO:0019695 False Myhre syndrome acromelic dysplasia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007689 MONDO:0003847 False guanylate kinase 3 hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007690 MONDO:0005039 False aromatase excess syndrome reproductive system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0007690 MONDO:0019052 False aromatase excess syndrome inborn errors of metabolism UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0007691 MONDO:0003847 False Guillain-Barre syndrome, familial hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007691 MONDO:0016218 False Guillain-Barre syndrome, familial Guillain-Barre syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007693 MONDO:0019280 False hypertrichosis cubiti-short stature syndrome hypertrichosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007693 MONDO:0019287 False hypertrichosis cubiti-short stature syndrome ectodermal dysplasia syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0007694 MONDO:0003847 False hairy nose tip hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007695 MONDO:0003847 False hairy palms and soles hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007696 MONDO:0019054 False Emery-Nelson syndrome congenital limb malformation UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007697 MONDO:0003847 False hand clasping pattern hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007698 MONDO:0000426 False hand-foot-genital syndrome autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0007698 MONDO:0002254 False hand-foot-genital syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0007698 MONDO:0005039 False hand-foot-genital syndrome reproductive system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0007698 MONDO:0015161 False hand-foot-genital syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007698 MONDO:0018234 False hand-foot-genital syndrome dysostosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0007698 MONDO:0019054 False hand-foot-genital syndrome congenital limb malformation UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007699 MONDO:0003847 False Hashimoto thyroiditis hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0007699 MONDO:0005623 False Hashimoto thyroiditis autoimmune thyroid disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007700 MONDO:0017307 False hawkinsinuria disorder of tyrosine metabolism UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007702 MONDO:0007732 False heart-hand syndrome type 3 Holt-Oram syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0007704 MONDO:0020573 False osteoarthritis susceptibility 2 inherited disease susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007705 MONDO:0003664 False Heinz body anemia hemolytic anemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0007706 MONDO:0003847 False cavernous hemangiomas of face-supraumbilical midline raphe syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007707 MONDO:0006500 False hemangiomas of small intestine hemangioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007707 MONDO:0021501 False hemangiomas of small intestine benign neoplasm of small intestine UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007708 MONDO:0003847 False Kasabach-Merritt syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007710 MONDO:0002254 False facial hemiatrophy syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0007709 MONDO:0003847 False hematuria, benign familial hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0007710 MONDO:0002098 False facial hemiatrophy facial nerve disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0007711 MONDO:0002254 False Bencze syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007711 MONDO:0015161 False Bencze syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007712 MONDO:0003847 False oculoauriculovertebral spectrum with radial defects hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007712 MONDO:0015161 False oculoauriculovertebral spectrum with radial defects multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007712 MONDO:0018234 False oculoauriculovertebral spectrum with radial defects dysostosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007713 MONDO:0005395 False clonic hemifacial spasm movement disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007715 MONDO:0003847 False hemolytic poikilocytic anemia due to reduced ankyrin binding sites hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007716 MONDO:0002254 False alpha thalassemia-intellectual disability syndrome type 1 syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0007716 MONDO:0005570 False alpha thalassemia-intellectual disability syndrome type 1 hematologic disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0007716 MONDO:0016894 False alpha thalassemia-intellectual disability syndrome type 1 partial deletion of the short arm of chromosome 16 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007717 MONDO:0003847 False hemoglobin--variants for which the chain carrying the mutation 1S unknown or uncertain hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007718 MONDO:0003847 False hepatic adenomas, familial hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0007718 MONDO:0018902 False hepatic adenomas, familial hepatocellular adenoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0007719 MONDO:0005711 False diaphragmatic hernia 1 congenital diaphragmatic hernia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0007720 MONDO:0003847 False hernia, double inguinal hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007721 MONDO:0004298 False hiatus hernia stomach disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0007722 MONDO:0003847 False heterochromia iridis hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007723 MONDO:0100179 False Hirschsprung disease, susceptibility to, 1 Hirschsprung disease, susceptibility to UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007724 MONDO:0015159 False hirsutism-skeletal dysplasia-intellectual disability syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007725 MONDO:0015531 False hereditary progressive mucinous histiocytosis non-Langerhans cell histiocytosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007726 MONDO:0016761 False hip dysplasia, Beukes type spondyloepiphyseal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0007727 MONDO:0005046 False autosomal dominant familial periodic fever immune system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0007727 MONDO:0017953 False autosomal dominant familial periodic fever hereditary periodic fever syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007730 MONDO:0003847 False histiocytic dermatoarthritis hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007732 MONDO:0000426 False Holt-Oram syndrome autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0007732 MONDO:0005267 False Holt-Oram syndrome heart disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0007732 MONDO:0015161 False Holt-Oram syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007732 MONDO:0016432 False Holt-Oram syndrome heart-hand syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007732 MONDO:0019713 False Holt-Oram syndrome non-syndromic limb reduction defect UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007735 MONDO:0001294 False congenital Horner syndrome Horner syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007736 MONDO:0003847 False HPA 1 Recognition polymorphism, beta-globin-related hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007737 MONDO:0001411 False humeroradial synostosis synostosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0007737 MONDO:0003847 False humeroradial synostosis hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0007738 MONDO:0000226 False spondyloepiphyseal dysplasia with congenital joint dislocations mineral metabolism disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007738 MONDO:0016761 False spondyloepiphyseal dysplasia with congenital joint dislocations spondyloepiphyseal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0007738 MONDO:0019052 False spondyloepiphyseal dysplasia with congenital joint dislocations inborn errors of metabolism UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0007739 MONDO:0000167 False Huntington disease Huntington disease and related disorders UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007739 MONDO:0005395 False Huntington disease movement disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0007740 MONDO:0020248 False Wagner disease vitreoretinal degeneration UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007741 MONDO:0005510 False congenital hydronephrosis hydronephrosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007742 MONDO:0003847 False 5-hydroxytryptamine oxygenase regulator hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007743 MONDO:0000592 False attention deficit-hyperactivity disorder specific developmental disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007744 MONDO:0001336 False cholesterol-ester transfer protein deficiency familial hyperlipidemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0007745 MONDO:0002254 False Gilbert syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0007744 MONDO:0015903 False cholesterol-ester transfer protein deficiency hyperalphalipoproteinemia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007746 MONDO:0003847 False orthostatic hypotensive disorder, Streeten type hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007747 MONDO:0006025 False isolated hyperchlorhidrosis autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0007747 MONDO:0021026 False isolated hyperchlorhidrosis hereditary epidermal appendage anomaly UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007747 MONDO:0100118 False isolated hyperchlorhidrosis hereditary skin disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007748 MONDO:0002118 False hypercalciuria, absorptive, 2 urinary system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007748 MONDO:0003847 False hypercalciuria, absorptive, 2 hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007752 MONDO:0003847 False hyperheparinemia hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007753 MONDO:0001292 False Frey syndrome autonomic nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0007753 MONDO:0003847 False Frey syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0007754 MONDO:0003847 False hyperhidrosis palmaris ET plantaris hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007755 MONDO:0003847 False hyperimmunoglobulin G1(A1) syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007756 MONDO:0019268 False hyperkeratosis lenticularis perstans epidermal disease UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007757 MONDO:0000426 False hyperkeratosis-hyperpigmentation syndrome autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007757 MONDO:0019289 False hyperkeratosis-hyperpigmentation syndrome hyperpigmentation of the skin UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007757 MONDO:0100118 False hyperkeratosis-hyperpigmentation syndrome hereditary skin disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007758 MONDO:0017666 False epidermolytic palmoplantar keratoderma diffuse palmoplantar keratoderma UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007759 MONDO:0001336 False hyperlipidemia, familial combined, LPL related familial hyperlipidemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007760 MONDO:0003847 False hyperlipoproteinemia, type II, and deafness hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007762 MONDO:0001336 False hyperlipoproteinemia type V familial hyperlipidemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0007763 MONDO:0005086 False nonpapillary renal cell carcinoma renal cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0007764 MONDO:0002185 False autosomal dominant osteosclerosis, Worth type hyperostosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0007764 MONDO:0018230 False autosomal dominant osteosclerosis, Worth type skeletal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007765 MONDO:0003847 False hyperostosis cranialis interna hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007766 MONDO:0021147 False Morgagni-Stewart-Morel syndrome disorder of development or morphogenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007767 MONDO:0015027 False hyperparathyroidism 1 familial isolated hyperparathyroidism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007767 MONDO:0019060 False hyperparathyroidism 1 bone neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007767 MONDO:0023603 False hyperparathyroidism 1 hereditary disorder of connective tissue UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007767 MONDO:0800096 False hyperparathyroidism 1 abnormal mineralization disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007768 MONDO:0016365 False hyperparathyroidism 2 with jaw tumors familial primary hyperparathyroidism UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007768 MONDO:0019060 False hyperparathyroidism 2 with jaw tumors bone neoplasm UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007768 MONDO:0023603 False hyperparathyroidism 2 with jaw tumors hereditary disorder of connective tissue UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007768 MONDO:0800096 False hyperparathyroidism 2 with jaw tumors abnormal mineralization disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -22138,113 +16180,186 @@ MONDO:0007781 MONDO:0003847 False essential hypertension, genetic hereditary dis MONDO:0007781 MONDO:0020573 False essential hypertension, genetic inherited disease susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007782 MONDO:0003847 False hyperthermia, cutaneous, with headaches and nausea hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007784 MONDO:0001328 False selective pituitary resistance to thyroid hormone thyroid hormone resistance syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0007784 MONDO:0004425 False selective pituitary resistance to thyroid hormone hyperthyroidism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0007785 MONDO:0003847 False hyperthyroxinemia, dystransthyretinemic hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0007785 MONDO:0005333 False hyperthyroxinemia, dystransthyretinemic hyperthyroxinemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0007787 MONDO:0016381 False Ambras type hypertrichosis universalis congenita hypertrichosis lanuginosa congenita UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0007788 MONDO:0005347 False hypertriglyceridemia 1 hypertriglyceridemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007789 MONDO:0003847 False hypertrophia musculorum vera hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007791 MONDO:0800096 False familial hypocalciuric hypercalcemia 1 abnormal mineralization disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007793 MONDO:0019685 False hypochondroplasia FGFR3-related chondrodysplasia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007794 MONDO:0015770 False hypogonadotropic hypogonadism 7 with or without anosmia congenital hypogonadotropic hypogonadism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007795 MONDO:0002254 False mullerian duct anomalies-limb anomalies syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007797 MONDO:0002254 False hypoparathyroidism-deafness-renal disease syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0007795 MONDO:0005039 False mullerian duct anomalies-limb anomalies syndrome reproductive system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007795 MONDO:0015161 False mullerian duct anomalies-limb anomalies syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007797 MONDO:0003847 False hypoparathyroidism-deafness-renal disease syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0007797 MONDO:0016892 False hypoparathyroidism-deafness-renal disease syndrome partial deletion of the short arm of chromosome 10 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007799 MONDO:0003847 False hypophosphatemic bone disease hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007800 MONDO:0002254 False chromosome 18p deletion syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0007800 MONDO:0016880 False chromosome 18p deletion syndrome partial deletion of chromosome 18 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007803 MONDO:0000510 False multiple system atrophy synucleinopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0007803 MONDO:0005395 False multiple system atrophy movement disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0007804 MONDO:0015160 False Pallister-Hall syndrome multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007804 MONDO:0018762 False Pallister-Hall syndrome non-acquired combined pituitary hormone deficiency UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007804 MONDO:0800066 False Pallister-Hall syndrome polydactyly-syndactyly-triphalangism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007805 MONDO:0019575 False hypotrichosis 2 hypotrichosis simplex of the scalp UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007807 MONDO:0003847 False hypoxanthine guanine phosphoribosyltransferase suppressor hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007808 MONDO:0859383 False ichthyosis hystrix of Curth-Macklin ichthyosis hystrix UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0007809 MONDO:0859383 False ichthyosis histrix, Lambert type ichthyosis hystrix UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0007810 MONDO:0000426 False autosomal dominant ichthyosis vulgaris autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0007810 MONDO:0024304 False autosomal dominant ichthyosis vulgaris ichthyosis vulgaris UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007811 MONDO:0002254 False ichthyosis-cheek-eyebrow syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007811 MONDO:0003847 False ichthyosis-cheek-eyebrow syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007812 MONDO:0017778 False ichthyosis, lamellar, autosomal dominant lamellar ichthyosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007813 MONDO:0017266 False superficial epidermolytic ichthyosis keratinopathic ichthyosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007813 MONDO:0017339 False superficial epidermolytic ichthyosis exfoliative ichthyosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007814 MONDO:0015517 False immune deficiency, familial variable common variable immunodeficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0007817 MONDO:0004980 False IgE responsiveness, atopic atopic eczema UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0007818 MONDO:0000426 False hyper-IgE recurrent infection syndrome 1, autosomal dominant autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0007819 MONDO:0007733 False solitary median maxillary central incisor syndrome holoprosencephaly 3 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0007819 MONDO:0017219 False solitary median maxillary central incisor syndrome microform holoprosencephaly UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007820 MONDO:0003847 False fused mandibular incisors hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007824 MONDO:0003847 False incisors, lower central, absence of hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007825 MONDO:0003847 False incisors, rotation of upper central hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007826 MONDO:0003847 False incisors, shovel-shaped hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007828 MONDO:0003847 False indifference to pain, congenital, autosomal dominant hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0007829 MONDO:0017290 False cholestasis, intrahepatic, of pregnancy, 1 familial intrahepatic cholestasis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007829 MONDO:0100429 False cholestasis, intrahepatic, of pregnancy, 1 intrahepatic cholestasis of pregnancy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0007830 MONDO:0003847 False insensitivity to pain with hyperplastic Myelinopathy hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007831 MONDO:0003847 False insect Stings, hypersensitivity to hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007832 MONDO:0003847 False interferon antiviral depressor hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007833 MONDO:0003847 False iris pigment layer, cleavage of hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007834 MONDO:0001933 False islet cell adenomatosis endocrine pancreas disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007834 MONDO:0003847 False islet cell adenomatosis hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007835 MONDO:0003847 False intussusception hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0007838 MONDO:0002254 False Jacobsen syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0007835 MONDO:0004565 False intussusception intestinal obstruction UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0007836 MONDO:0003847 False IVIC syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0007836 MONDO:0018234 False IVIC syndrome dysostosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0007836 MONDO:0019054 False IVIC syndrome congenital limb malformation UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007837 MONDO:0015159 False Johnson neuroectodermal syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007837 MONDO:0019287 False Johnson neuroectodermal syndrome ectodermal dysplasia syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0007838 MONDO:0016910 False Jacobsen syndrome partial deletion of the long arm of chromosome 11 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007838 MONDO:0018795 False Jacobsen syndrome syndromic constitutional thrombocytopenia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007839 MONDO:0002320 False Aase-Smith syndrome congenital nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007839 MONDO:0015161 False Aase-Smith syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007839 MONDO:0020022 False Aase-Smith syndrome central nervous system malformation UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007840 MONDO:0003847 False internal carotid artery, spontaneous dissection of hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007841 MONDO:0018230 False coxopodopatellar syndrome skeletal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007842 MONDO:0020066 False joint laxity, familial Ehlers-Danlos syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0007844 MONDO:0018800 False hypogonadotropic hypogonadism 2 with or without anosmia Kallmann syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0007845 MONDO:0015356 False Kaposi sarcoma, susceptibility to hereditary neoplastic syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007845 MONDO:0015979 False Kaposi sarcoma, susceptibility to hereditary predisposition to infections UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007846 MONDO:0000508 False KBG syndrome syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0007846 MONDO:0002320 False KBG syndrome congenital nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0007846 MONDO:0003847 False KBG syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0007846 MONDO:0015159 False KBG syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007847 MONDO:0003847 False keloid formation hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007848 MONDO:0000426 False autosomal dominant keratitis autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0007848 MONDO:0003085 False autosomal dominant keratitis keratitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0007848 MONDO:0018102 False autosomal dominant keratitis corneal dystrophy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0007849 MONDO:0003847 False keratitis fugax hereditaria hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007850 MONDO:0000426 False autosomal dominant keratitis-ichthyosis-hearing loss syndrome autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0007852 MONDO:0017666 False palmoplantar keratoderma-deafness syndrome diffuse palmoplantar keratoderma UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007853 MONDO:0002254 False palmoplantar keratoderma-hereditary motor and sensory neuropathy syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007853 MONDO:0017666 False palmoplantar keratoderma-hereditary motor and sensory neuropathy syndrome diffuse palmoplantar keratoderma UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007854 MONDO:0019268 False keratolytic winter erythema epidermal disease UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007855 MONDO:0003847 False keratosis, familial actinic hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007856 MONDO:0002254 False palmoplantar keratoderma-esophageal carcinoma syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0007856 MONDO:0017672 False palmoplantar keratoderma-esophageal carcinoma syndrome focal palmoplantar keratoderma UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007857 MONDO:0017666 False keratosis palmaris et plantaris-clinodactyly syndrome diffuse palmoplantar keratoderma UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007858 MONDO:0019332 False palmoplantar keratoderma, punctate type 1A punctate palmoplantar keratoderma type 1 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007859 MONDO:0019272 False palmoplantar keratoderma i, striate, focal, or diffuse hereditary palmoplantar keratoderma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007860 MONDO:0017672 False focal palmoplantar and gingival keratoderma focal palmoplantar keratoderma UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007861 MONDO:0015337 False isolated cloverleaf skull syndrome isolated craniosynostosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007863 MONDO:0002254 False Kleine-Levin syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0007863 MONDO:0004617 False Kleine-Levin syndrome recurrent hypersomnia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0007864 MONDO:0003847 False angioosteohypertrophic syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0007864 MONDO:0005385 False angioosteohypertrophic syndrome vascular disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0007864 MONDO:0019716 False angioosteohypertrophic syndrome overgrowth syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007864 MONDO:0019755 False angioosteohypertrophic syndrome developmental defect during embryogenesis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007865 MONDO:0003847 False knuckle pads hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007866 MONDO:0017666 False Bart-Pumphrey syndrome diffuse palmoplantar keratoderma UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007869 MONDO:0003847 False Kyrle disease hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007870 MONDO:0003847 False labia minora, incomplete adhesion of hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007871 MONDO:0018751 False familial congenital nasolacrimal duct obstruction hereditary otorhinolaryngologic disease UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007872 MONDO:0000426 False LADD syndrome autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0007872 MONDO:0015161 False LADD syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007872 MONDO:0800066 False LADD syndrome polydactyly-syndactyly-triphalangism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007873 MONDO:0003847 False lactic acidosis, chronic adult form hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007874 MONDO:0000426 False trichorhinophalangeal syndrome type II autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0007874 MONDO:0015159 False trichorhinophalangeal syndrome type II multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007874 MONDO:0016907 False trichorhinophalangeal syndrome type II partial deletion of the long arm of chromosome 8 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007875 MONDO:0000426 False Larsen syndrome autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0007875 MONDO:0019690 False Larsen syndrome filamin-related bone disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007875 MONDO:0019755 False Larsen syndrome developmental defect during embryogenesis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007876 MONDO:0004382 False laryngeal abductor paralysis laryngeal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007876 MONDO:0024623 False laryngeal abductor paralysis otorhinolaryngologic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007877 MONDO:0003847 False laryngeal adductor paralysis hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007879 MONDO:0004382 False larynx atresia laryngeal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007879 MONDO:0024623 False larynx atresia otorhinolaryngologic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007880 MONDO:0002254 False congenital laryngeal web syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007880 MONDO:0004382 False congenital laryngeal web laryngeal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007881 MONDO:0100358 False tooth agenesis, selective, 4 ectodermal dysplasia WNT10A related UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007882 MONDO:0003847 False lattice degeneration of retina leading to retinal detachment hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007883 MONDO:0003847 False periodic fever, immunodeficiency, and thrombocytopenia syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007884 MONDO:0003847 False leg ulcers, familial, of juvenile onset hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007885 MONDO:0018381 False Legg-Calve-Perthes disease osteochondrosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0007885 MONDO:0018383 False Legg-Calve-Perthes disease osteonecrosis of genetic origin UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007885 MONDO:0022800 False Legg-Calve-Perthes disease type 2 collagenopathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007886 MONDO:0005167 False uterine corpus leiomyoma fibroma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0007886 MONDO:0023603 False uterine corpus leiomyoma hereditary disorder of connective tissue UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007887 MONDO:0010641 False leiomyoma of vulva and esophagus X-linked diffuse leiomyomatosis-Alport syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0007890 MONDO:0003847 False lentiginosis, centrofacial neurodysraphic hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007891 MONDO:0019289 False familial generalized lentiginosis hyperpigmentation of the skin UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007892 MONDO:0002254 False Lenz-Majewski hyperostotic dwarfism syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0007892 MONDO:0015159 False Lenz-Majewski hyperostotic dwarfism multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007892 MONDO:0018230 False Lenz-Majewski hyperostotic dwarfism skeletal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007893 MONDO:0000426 False Noonan syndrome with multiple lentigines autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0007893 MONDO:0015161 False Noonan syndrome with multiple lentigines multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007893 MONDO:0020297 False Noonan syndrome with multiple lentigines Noonan syndrome and Noonan-related syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007894 MONDO:0019054 False Leri pleonosteosis congenital limb malformation UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007894 MONDO:0019695 False Leri pleonosteosis acromelic dysplasia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007895 MONDO:0019694 False platyspondylic dysplasia, Torrance type spondylodysplastic dysplasia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007895 MONDO:0022800 False platyspondylic dysplasia, Torrance type type 2 collagenopathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007896 MONDO:0004600 False acute monocytic leukemia monocytic leukemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0007898 MONDO:0003847 False leukocyte nuclear appendages, hereditary prevalence of hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007899 MONDO:0002406 False lichen sclerosus et atrophicus dermatitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007899 MONDO:0100118 False lichen sclerosus et atrophicus hereditary skin disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007901 MONDO:0003847 False levator-medial rectus synkinesis hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007902 MONDO:0006572 False lichen planus, familial lichen planus UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007902 MONDO:0100118 False lichen planus, familial hereditary skin disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007904 MONDO:0015161 False median nodule of the upper lip multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007905 MONDO:0003847 False lip, hamartomatous hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007906 MONDO:0021147 False familial partial lipodystrophy, Dunnigan type disorder of development or morphogenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007907 MONDO:0006105 False lipoma of the conjunctiva benign conjunctival neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007907 MONDO:0021630 False lipoma of the conjunctiva lipoma of face UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007908 MONDO:0000652 False multiple symmetric lipomatosis integumentary system benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0007908 MONDO:0019296 False multiple symmetric lipomatosis subcutaneous tissue disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007909 MONDO:0000652 False familial multiple lipomatosis integumentary system benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007909 MONDO:0005106 False familial multiple lipomatosis lipoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007909 MONDO:0019296 False familial multiple lipomatosis subcutaneous tissue disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007910 MONDO:0003847 False lipoprotein types--Lt system hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007911 MONDO:0003847 False lipoprotein, variant of beta hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007912 MONDO:0003847 False lithium transport hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007913 MONDO:0003847 False low density lipoprotein, variation in molecular weight of hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007914 MONDO:0003847 False lumbar stenosis, familial hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007916 MONDO:0018178 False primary intestinal lymphangiectasia intestinal lymphangiectasia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007917 MONDO:0002254 False lymphedema-cerebral arteriovenous anomaly syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007918 MONDO:0002254 False microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0007918 MONDO:0019118 False microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability inherited retinal dystrophy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0007918 MONDO:0019313 False microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability lymphatic malformation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS MONDO:0007918 MONDO:0021147 False microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability disorder of development or morphogenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007918 MONDO:0043218 False microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability neurovascular disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007920 MONDO:0000486 False lymphatic malformation 5 craniofacial dystonia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0007920 MONDO:0043218 False lymphatic malformation 5 neurovascular disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007920 MONDO:0044807 False lymphatic malformation 5 inherited dystonia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0007921 MONDO:0019175 False yellow nail syndrome primary lymphedema UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007922 MONDO:0019313 False lymphedema-distichiasis syndrome lymphatic malformation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS MONDO:0007923 MONDO:0003847 False macrocephaly, benign familial hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007924 MONDO:0000426 False Bannayan-Riley-Ruvalcaba syndrome autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0007924 MONDO:0005385 False Bannayan-Riley-Ruvalcaba syndrome vascular disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0007924 MONDO:0015159 False Bannayan-Riley-Ruvalcaba syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007924 MONDO:0015185 False Bannayan-Riley-Ruvalcaba syndrome intestinal polyposis syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007924 MONDO:0019716 False Bannayan-Riley-Ruvalcaba syndrome overgrowth syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007925 MONDO:0002281 False myelodysplastic syndrome associated with isolated del(5q) macrocytic anemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0007925 MONDO:0003847 False myelodysplastic syndrome associated with isolated del(5q) hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0007925 MONDO:0016904 False myelodysplastic syndrome associated with isolated del(5q) partial deletion of the long arm of chromosome 5 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007927 MONDO:0015496 False congenital macroglossia macroglossia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007930 MONDO:0009276 False Bernard-Soulier syndrome, type A2, autosomal dominant Bernard-Soulier syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS +MONDO:0007931 MONDO:0700238 False vitelliform macular dystrophy 2 BEST1-related dominant retinopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007933 MONDO:0011979 False vitelliform macular dystrophy 1 adult-onset foveomacular vitelliform dystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007934 MONDO:0020242 False benign concentric annular macular dystrophy hereditary macular dystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007936 MONDO:0018102 False macular dystrophy, fenestrated sheen type corneal dystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -22254,46 +16369,77 @@ MONDO:0007938 MONDO:0016674 False 46,XY sex reversal 4 46,XY partial gonadal dys MONDO:0007941 MONDO:0003847 False malocclusion due to protuberant upper front teeth hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007942 MONDO:0003847 False Mammastatin hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007943 MONDO:0002254 False Nager acrofacial dysostosis syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0007943 MONDO:0015161 False Nager acrofacial dysostosis multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007943 MONDO:0800483 False Nager acrofacial dysostosis SF3B4-related acrofacial dysostosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007945 MONDO:0003847 False mannose 6-phosphate receptor recognition defect, Lebanese type hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007946 MONDO:0002254 False jaw-winking syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0007946 MONDO:0003569 False jaw-winking syndrome cranial nerve neuropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0007946 MONDO:0024458 False jaw-winking syndrome disorder of visual system UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007947 MONDO:0000426 False Marfan syndrome autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0007947 MONDO:0002254 False Marfan syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0007947 MONDO:0005172 False Marfan syndrome skeletal system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007947 MONDO:0017310 False Marfan syndrome Marfan and Marfan-related disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007948 MONDO:0003847 False marfanoid hypermobility syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007949 MONDO:0005328 False Marshall syndrome eye disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0007949 MONDO:0015161 False Marshall syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007949 MONDO:0016761 False Marshall syndrome spondyloepiphyseal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0007949 MONDO:0019287 False Marshall syndrome ectodermal dysplasia syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS MONDO:0007950 MONDO:0003847 False mastocytosis hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0007950 MONDO:0004805 False mastocytosis leukocyte disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0007951 MONDO:0003847 False masticatory muscles, hypertrophy of hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007952 MONDO:0003847 False maxillofacial dysostosis hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007953 MONDO:0002232 False Binder syndrome nasal cavity disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0007953 MONDO:0015161 False Binder syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007955 MONDO:0003847 False Meckel diverticulum hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0007956 MONDO:0016643 False Pai syndrome frontonasal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0007957 MONDO:0003847 False mediosternal depigmentation line hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007958 MONDO:0015277 False familial medullary thyroid carcinoma medullary thyroid gland carcinoma UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0007958 MONDO:0019003 False familial medullary thyroid carcinoma multiple endocrine neoplasia type 2 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007961 MONDO:0016608 False megalencephaly, autosomal dominant megalencephaly UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007962 MONDO:0003847 False megalodactyly hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007962 MONDO:0021147 False megalodactyly disorder of development or morphogenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007963 MONDO:0020573 False melanoma, cutaneous malignant, susceptibility to, 1 inherited disease susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007964 MONDO:0020573 False melanoma, cutaneous malignant, susceptibility to, 2 inherited disease susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007964 MONDO:0000426 False melanoma, cutaneous malignant, susceptibility to, 2 autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0007965 MONDO:0018961 False melanoma, malignant familial intraocular familial melanoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007967 MONDO:0005071 False melanoma and neural system tumor syndrome nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0007967 MONDO:0015356 False melanoma and neural system tumor syndrome hereditary neoplastic syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007968 MONDO:0003847 False melanoma tumor antigen Gp90 hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007969 MONDO:0002098 False Melkersson-Rosenthal syndrome facial nerve disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0007969 MONDO:0002102 False Melkersson-Rosenthal syndrome cheilitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0007969 MONDO:0002254 False Melkersson-Rosenthal syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0007969 MONDO:0005492 False Melkersson-Rosenthal syndrome urticaria UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0007970 MONDO:0017198 False melorheostosis osteopetrosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0007971 MONDO:0018230 False delayed membranous cranial ossification skeletal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007972 MONDO:0006744 False Meniere disease endolymphatic hydrops UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0007972 MONDO:0018751 False Meniere disease hereditary otorhinolaryngologic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007972 MONDO:0037940 False Meniere disease inherited auditory system disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007973 MONDO:0003847 False mental and growth retardation with amblyopia hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007975 MONDO:0020127 False meralgia paraesthetica, familial hereditary peripheral neuropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007975 MONDO:0023757 False meralgia paraesthetica, familial meralgia paresthetica UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007976 MONDO:0003847 False mesomelic dwarfism of hypoplastic tibia and radius type hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007977 MONDO:0018230 False mesomelic dysplasia, Kantaputra type skeletal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007977 MONDO:0023599 False mesomelic dysplasia, Kantaputra type mesomelic dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007979 MONDO:0003847 False metachondromatosis hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0007979 MONDO:0005381 False metachondromatosis bone disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0007980 MONDO:0003847 False metachromasia of fibroblasts hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007982 MONDO:0002254 False metaphyseal chondrodysplasia, Jansen type syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0007982 MONDO:0005516 False metaphyseal chondrodysplasia, Jansen type osteochondrodysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0007982 MONDO:0018230 False metaphyseal chondrodysplasia, Jansen type skeletal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007983 MONDO:0002254 False Schmid metaphyseal chondrodysplasia syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0007983 MONDO:0005516 False Schmid metaphyseal chondrodysplasia osteochondrodysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0007983 MONDO:0018230 False Schmid metaphyseal chondrodysplasia skeletal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007984 MONDO:0002254 False metaphyseal dysplasia-maxillary hypoplasia-brachydacty syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0007984 MONDO:0018230 False metaphyseal dysplasia-maxillary hypoplasia-brachydacty syndrome skeletal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007985 MONDO:0003847 False metatarsus varus, type 1 hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007986 MONDO:0016761 False metatropic dysplasia spondyloepiphyseal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0007986 MONDO:0018240 False metatropic dysplasia TRPV4-related bone disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007987 MONDO:0016761 False Kniest dysplasia spondyloepiphyseal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0007987 MONDO:0022800 False Kniest dysplasia type 2 collagenopathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007988 MONDO:0000426 False autosomal dominant primary microcephaly autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0007988 MONDO:0002320 False autosomal dominant primary microcephaly congenital nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0007988 MONDO:0015160 False autosomal dominant primary microcephaly multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007988 MONDO:0016056 False autosomal dominant primary microcephaly isolated congenital microcephaly UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0007988 MONDO:0100500 False autosomal dominant primary microcephaly Mendelian neurodevelopmental disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007989 MONDO:0011119 False congenital microcoria iridogoniodysgenesis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007990 MONDO:0005093 False multiple benign circumferential skin creases on limbs skin disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0007991 MONDO:0015159 False microcephaly-deafness-intellectual disability syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007992 MONDO:0005328 False microcornea-glaucoma-absent frontal sinuses syndrome eye disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007993 MONDO:0002254 False microgastria-limb reduction defect syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007993 MONDO:0015160 False microgastria-limb reduction defect syndrome multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -22308,29 +16454,44 @@ MONDO:0008002 MONDO:0100515 False mirror movements 1 mirror movements 1 and/or a MONDO:0008003 MONDO:0000090 False autosomal dominant progressive external ophthalmoplegia progressive external ophthalmoplegia with mitochondrial DNA deletions UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008003 MONDO:0000426 False autosomal dominant progressive external ophthalmoplegia autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008004 MONDO:0004910 False familial mitral valve prolapse mitral valve prolapse UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008004 MONDO:0019817 False familial mitral valve prolapse congenital mitral valve insufficiency and/or stenosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008004 MONDO:0042966 False familial mitral valve prolapse inherited mitral valve disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008005 MONDO:0019690 False cardiospondylocarpofacial syndrome filamin-related bone disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008006 MONDO:0002254 False Mobius syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0008006 MONDO:0002098 False Mobius syndrome facial nerve disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0008006 MONDO:0002320 False Mobius syndrome congenital nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0008006 MONDO:0015083 False Mobius syndrome nuclear oculomotor paralysis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008006 MONDO:0015160 False Mobius syndrome multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008007 MONDO:0002220 False tooth ankylosis tooth hard tissue disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0008007 MONDO:0002257 False tooth ankylosis ankylosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0008007 MONDO:0003847 False tooth ankylosis hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0008008 MONDO:0003847 False MOMO syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008009 MONDO:0000426 False monilethrix autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0008009 MONDO:0100118 False monilethrix hereditary skin disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008010 MONDO:0003847 False antigen defined by monoclonal antibody Aj9 hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008011 MONDO:0003847 False antigen defined by monoclonal antibody T87 hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008012 MONDO:0003847 False Monophalangy of great toe hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008013 MONDO:0016874 False chromosome 9p deletion syndrome partial deletion of chromosome 9 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008014 MONDO:0003847 False nondisjunction hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008015 MONDO:0002467 False motion sickness inner ear disorder UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0008015 MONDO:0018751 False motion sickness hereditary otorhinolaryngologic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008015 MONDO:0037940 False motion sickness inherited auditory system disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008017 MONDO:0005093 False hereditary mucoepithelial dysplasia skin disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008018 MONDO:0000426 False Muir-Torre syndrome autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0008018 MONDO:0018630 False Muir-Torre syndrome hereditary nonpolyposis colon cancer UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0008019 MONDO:0003847 False mullerian aplasia and hyperandrogenism hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0008019 MONDO:0015830 False mullerian aplasia and hyperandrogenism partial bilateral aplasia of the mullerian ducts UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008020 MONDO:0003847 False multiple exostoses with spastic tetraparesis hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008022 MONDO:0003847 False muscle cramps, familial hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008023 MONDO:0002254 False muscular atrophy-ataxia-retinitis pigmentosa-diabetes mellitus syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008023 MONDO:0004884 False muscular atrophy-ataxia-retinitis pigmentosa-diabetes mellitus syndrome eye degenerative disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008023 MONDO:0024237 False muscular atrophy-ataxia-retinitis pigmentosa-diabetes mellitus syndrome inherited neurodegenerative disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008023 MONDO:0100309 False muscular atrophy-ataxia-retinitis pigmentosa-diabetes mellitus syndrome hereditary ataxia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008024 MONDO:0015355 False neuronopathy, distal hereditary motor, type 7A distal hereditary motor neuropathy type 7 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0008025 MONDO:0015352 False neuronopathy, distal hereditary motor, type 2A distal hereditary motor neuropathy type 2 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0008027 MONDO:0003847 False muscular atrophy, malignant neurogenic hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008028 MONDO:0020121 False muscular dystrophy, Barnes type muscular dystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008029 MONDO:0016106 False Bethlem myopathy progressive muscular dystrophy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008029 MONDO:0019950 False Bethlem myopathy congenital muscular dystrophy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0008029 MONDO:0019952 False Bethlem myopathy congenital myopathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS MONDO:0008034 MONDO:0010311 False muscular dystrophy, pseudohypertrophic, with Internalized capillaries Becker muscular dystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0008035 MONDO:0003847 False muscular hypoplasia, congenital universal, of Krabbe hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -22338,25 +16499,46 @@ MONDO:0008036 MONDO:0009688 False myasthenia, limb-girdle, autoimmune myasthenia MONDO:0008037 MONDO:0003847 False myelinated optic nerve fibers hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008038 MONDO:0100310 False ataxia-pancytopenia syndrome hereditary cerebellar ataxia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008039 MONDO:0005801 False tropical spastic paraparesis human T-lymphotropic virus 1 infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008039 MONDO:0020010 False tropical spastic paraparesis infectious disorder of the nervous system UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008040 MONDO:0020076 False transient myeloproliferative syndrome myeloproliferative neoplasm UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0008041 MONDO:0016022 False myoclonic epilepsy, Hartung type early myoclonic encephalopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008043 MONDO:0100309 False myoclonus-cerebellar ataxia-deafness syndrome hereditary ataxia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008044 MONDO:0000903 False myoclonic dystonia 11 myoclonus-dystonia syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0008045 MONDO:0001516 False spinal muscular atrophy-progressive myoclonic epilepsy syndrome spinal muscular atrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0008045 MONDO:0005395 False spinal muscular atrophy-progressive myoclonic epilepsy syndrome movement disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0008045 MONDO:0024257 False spinal muscular atrophy-progressive myoclonic epilepsy syndrome hereditary motor neuron disease UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008045 MONDO:0100524 False spinal muscular atrophy-progressive myoclonic epilepsy syndrome ASAH1-related sphingolipidosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008045 MONDO:0800460 False spinal muscular atrophy-progressive myoclonic epilepsy syndrome ASAH1-related disorders UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008046 MONDO:0000426 False autosomal dominant myoglobinuria autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008046 MONDO:0000866 False autosomal dominant myoglobinuria hereditary myoglobinuria UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008046 MONDO:0019052 False autosomal dominant myoglobinuria inborn errors of metabolism UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008046 MONDO:0700223 False autosomal dominant myoglobinuria hereditary skeletal muscle disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008047 MONDO:0020127 False episodic ataxia type 1 hereditary peripheral neuropathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008048 MONDO:0000426 False autosomal dominant centronuclear myopathy autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0008049 MONDO:0018949 False myopathy, distal, infantile-onset distal myopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS MONDO:0008050 MONDO:0002320 False MYH7-related skeletal myopathy congenital nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0008050 MONDO:0016195 False MYH7-related skeletal myopathy qualitative or quantitative defects of beta-myosin heavy chain (MYH7) UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008050 MONDO:0019952 False MYH7-related skeletal myopathy congenital myopathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS +MONDO:0008051 MONDO:0019952 False tubular aggregate myopathy congenital myopathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS MONDO:0008052 MONDO:0003847 False myopathy with storage of glycoproteins and Glycosaminoglycans hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008054 MONDO:0018010 False juvenile dermatomyositis juvenile idiopathic inflammatory myopathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008055 MONDO:0003847 False myotonia congenita, autosomal dominant hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0008055 MONDO:0009710 False myotonia congenita, autosomal dominant Thomsen and Becker disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0008056 MONDO:0024573 False myotonic dystrophy type 1 familial hypertrophic cardiomyopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS MONDO:0008057 MONDO:0015285 False Carney complex, type 1 Carney complex UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008058 MONDO:0019952 False cylindrical spirals myopathy congenital myopathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS +MONDO:0008059 MONDO:0017666 False Naegeli-Franceschetti-Jadassohn syndrome diffuse palmoplantar keratoderma UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008059 MONDO:0019287 False Naegeli-Franceschetti-Jadassohn syndrome ectodermal dysplasia syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS +MONDO:0008059 MONDO:0019289 False Naegeli-Franceschetti-Jadassohn syndrome hyperpigmentation of the skin UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008061 MONDO:0000426 False nail-patella syndrome autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0008061 MONDO:0005328 False nail-patella syndrome eye disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0008061 MONDO:0018234 False nail-patella syndrome dysostosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0008062 MONDO:0016158 False narcolepsy 1 narcolepsy-cataplexy syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008063 MONDO:0003847 False nasal alar collapse, bilateral hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008064 MONDO:0003847 False nasal bones, absence of hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008065 MONDO:0003847 False nasal groove, familial transverse hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008066 MONDO:0003847 False nasal hyperpigmentation, familial transverse hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008067 MONDO:0020573 False nasopharyngeal carcinoma, susceptibility to, 2 inherited disease susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008067 MONDO:0015356 False nasopharyngeal carcinoma, susceptibility to, 2 hereditary neoplastic syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008069 MONDO:0009723 False necrotizing encephalomyelopathy, subacute, of Leigh, adult Leigh syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0008069 MONDO:0020683 False necrotizing encephalomyelopathy, subacute, of Leigh, adult acute disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008070 MONDO:0015735 False nemaline myopathy 3 severe congenital nemaline myopathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -22366,30 +16548,43 @@ MONDO:0008070 MONDO:0015738 False nemaline myopathy 3 childhood-onset nemaline m MONDO:0008070 MONDO:0100084 False nemaline myopathy 3 alpha-actinopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008071 MONDO:0005240 False autosomal dominant progressive nephropathy with hypertension kidney disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008072 MONDO:0020573 False IgA nephropathy, susceptibility to, 1 inherited disease susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008073 MONDO:0008264 False familial juvenile hyperuricemic nephropathy type 1 autosomal dominant medullary cystic kidney disease with or without hyperuricemia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008073 MONDO:0019236 False familial juvenile hyperuricemic nephropathy type 1 inborn disorder of purine metabolism UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008075 MONDO:0002531 False schwannomatosis skin neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0008075 MONDO:0019289 False schwannomatosis hyperpigmentation of the skin UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008075 MONDO:0019755 False schwannomatosis developmental defect during embryogenesis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008075 MONDO:0021061 False schwannomatosis neurofibromatosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0008075 MONDO:0100118 False schwannomatosis hereditary skin disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008076 MONDO:0006683 False amyotrophic neuralgia brachial plexus neuropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0008076 MONDO:0020127 False amyotrophic neuralgia hereditary peripheral neuropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008078 MONDO:0018975 False neurofibromatosis, familial spinal neurofibromatosis type 1 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0008079 MONDO:0003847 False neurofibromatosis-pheochromocytoma-duodenal carcinoid syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008080 MONDO:0008075 False neurofibromatosis, type III, mixed central and peripheral schwannomatosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0008081 MONDO:0021061 False neurofibromatosis, type IV, of Riccardi neurofibromatosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008082 MONDO:0000426 False multiple endocrine neoplasia type 2B autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0008082 MONDO:0006295 False multiple endocrine neoplasia type 2B malignant urinary system neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0008083 MONDO:0019260 False ceroid lipofuscinosis, neuronal, 4 (Kufs type) adult neuronal ceroid lipofuscinosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008084 MONDO:0003847 False neuropathy, congenital, with arthrogryposis multiplex hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008086 MONDO:0018213 False neuropathy, hereditary sensory and autonomic, type 1A hereditary sensory and autonomic neuropathy type 1 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0008087 MONDO:0020127 False hereditary neuropathy with liability to pressure palsies hereditary peripheral neuropathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008087 MONDO:0022754 False hereditary neuropathy with liability to pressure palsies chromosome 17p deletion UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008088 MONDO:0003847 False neuropathy, with paraprotein in serum, cerebrospinal fluid and urine hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008089 MONDO:0003847 False neutropenia, chronic familial hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008090 MONDO:0003847 False cyclic hematopoiesis hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0008090 MONDO:0015134 False cyclic hematopoiesis constitutional neutropenia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008092 MONDO:0003847 False hereditary neutrophilia hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0008092 MONDO:0004805 False hereditary neutrophilia leukocyte disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0008093 MONDO:0005073 False nevus, epidermal melanocytic nevus UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008093 MONDO:0100118 False nevus, epidermal hereditary skin disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008094 MONDO:0021658 False familial multiple nevi flammei vascular ectasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008094 MONDO:0016231 False familial multiple nevi flammei capillary malformation UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008094 MONDO:0019293 False familial multiple nevi flammei skin vascular disease UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0008094 MONDO:0100118 False familial multiple nevi flammei hereditary skin disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008095 MONDO:0003847 False nevus anemicus hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008095 MONDO:0021658 False nevus anemicus vascular ectasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008096 MONDO:0003847 False nevus flammeus of nape of neck hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008097 MONDO:0006499 False linear nevus sebaceous syndrome hamartoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008097 MONDO:0019755 False linear nevus sebaceous syndrome developmental defect during embryogenesis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008097 MONDO:0020179 False linear nevus sebaceous syndrome palpebral nevus UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008097 MONDO:0100118 False linear nevus sebaceous syndrome hereditary skin disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008098 MONDO:0018230 False mesomelic dwarfism, Nievergelt type skeletal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008098 MONDO:0023599 False mesomelic dwarfism, Nievergelt type mesomelic dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008099 MONDO:0002320 False congenital stationary night blindness autosomal dominant 2 congenital nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0008100 MONDO:0003847 False nipples inverted hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -22400,97 +16595,157 @@ MONDO:0008105 MONDO:0003847 False nose, anomalous shape of hereditary disease UN MONDO:0008107 MONDO:0005712 False nystagmus, hereditary vertical congenital nystagmus UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0008108 MONDO:0003847 False oculocerebrocutaneous syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008108 MONDO:0005071 False oculocerebrocutaneous syndrome nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008109 MONDO:0018746 False ocular cicatricial pemphigoid mucous membrane pemphigoid UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008111 MONDO:0005328 False oculodentodigital dysplasia eye disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0008111 MONDO:0015160 False oculodentodigital dysplasia multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008111 MONDO:0018230 False oculodentodigital dysplasia skeletal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008111 MONDO:0019287 False oculodentodigital dysplasia ectodermal dysplasia syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS MONDO:0008113 MONDO:0002254 False Schilbach-Rott syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008113 MONDO:0015161 False Schilbach-Rott syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008114 MONDO:0003847 False obsessive-compulsive disorder hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0008116 MONDO:0004746 False oculopharyngeal muscular dystrophy myopathy of extraocular muscle UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0008116 MONDO:0016106 False oculopharyngeal muscular dystrophy progressive muscular dystrophy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008118 MONDO:0021147 False odontomatosis-aortae esophagus stenosis syndrome disorder of development or morphogenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008119 MONDO:0015548 False spinocerebellar ataxia type 1 Huntington disease-like syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008119 MONDO:0019792 False spinocerebellar ataxia type 1 autosomal dominant cerebellar ataxia type I UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008121 MONDO:0003847 False onychogryposis, pedal, with keratosis plantaris and coarse hair hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008123 MONDO:0000426 False autosomal dominant omodysplasia autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0008124 MONDO:0003847 False omphalocele, autosomal hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008124 MONDO:0019015 False omphalocele, autosomal omphalocele UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008127 MONDO:0003847 False ophthalmomandibulomelic dysplasia hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008128 MONDO:0003847 False ophthalmoplegia, familial static hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008129 MONDO:0003847 False ophthalmoplegia, familial total, with iris transillumination hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008130 MONDO:0015159 False ophthalmoplegia-intellectual disability-lingua scrotalis syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008131 MONDO:0014720 False optic atrophy, hearing loss, and peripheral neuropathy, autosomal dominant autosomal dominant optic atrophy plus syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008132 MONDO:0020478 False optic atrophy with demyelinating disease of CNS Leber plus disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0008133 MONDO:0016387 False optic atrophy 3 mitochondrial oxidative phosphorylation disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008133 MONDO:0020250 False optic atrophy 3 autosomal dominant optic atrophy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008134 MONDO:0016387 False autosomal dominant optic atrophy, classic form mitochondrial oxidative phosphorylation disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008134 MONDO:0020250 False autosomal dominant optic atrophy, classic form autosomal dominant optic atrophy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008136 MONDO:0020249 False isolated optic nerve hypoplasia hereditary optic neuropathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008136 MONDO:0800183 False isolated optic nerve hypoplasia PAX6-related ocular dysgenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008138 MONDO:0002254 False syndromic orbital border hypoplasia syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008139 MONDO:0019054 False OSLAM syndrome congenital limb malformation UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008139 MONDO:0019060 False OSLAM syndrome bone neoplasm UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008140 MONDO:0003847 False ossified ear cartilages hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008141 MONDO:0003847 False ossicular malformations, familial hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008142 MONDO:0018381 False Thiemann disease, familial form osteochondrosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008142 MONDO:0018383 False Thiemann disease, familial form osteonecrosis of genetic origin UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008143 MONDO:0020573 False osteoarthritis susceptibility 1 inherited disease susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008145 MONDO:0018230 False Ollier disease skeletal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008145 MONDO:0023603 False Ollier disease hereditary disorder of connective tissue UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008146 MONDO:0800064 False osteogenesis imperfecta type 1 osteogenesis imperfecta and a reduction of bone mineral density. UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008147 MONDO:0800064 False osteogenesis imperfecta type 2 osteogenesis imperfecta and a reduction of bone mineral density. UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008148 MONDO:0800064 False osteogenesis imperfecta type 4 osteogenesis imperfecta and a reduction of bone mineral density. UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008149 MONDO:0008146 False osteogenesis imperfecta with opalescent teeth, blue sclerae and wormian bones but without fractures osteogenesis imperfecta type 1 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS +MONDO:0008150 MONDO:0002081 False osteoglophonic dwarfism musculoskeletal system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0008150 MONDO:0003847 False osteoglophonic dwarfism hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0008151 MONDO:0800064 False gnathodiaphyseal dysplasia osteogenesis imperfecta and a reduction of bone mineral density. UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008152 MONDO:0019707 False multicentric carpo-tarsal osteolysis with or without nephropathy primary osteolysis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008153 MONDO:0021154 False progressive osseous heteroplasia dermis disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008153 MONDO:0100118 False progressive osseous heteroplasia hereditary skin disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008153 MONDO:0800466 False progressive osseous heteroplasia disorder of GNAS inactivation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008154 MONDO:0005166 False osteomas of mandible osteoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008154 MONDO:0021522 False osteomas of mandible benign neoplasm of lower jaw bone UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008155 MONDO:0017198 False osteomesopyknosis osteopetrosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008157 MONDO:0002254 False Buschke-Ollendorff syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0008157 MONDO:0005172 False Buschke-Ollendorff syndrome skeletal system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008157 MONDO:0021106 False Buschke-Ollendorff syndrome laminopathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008158 MONDO:0006025 False dacryocystitis-osteopoikilosis syndrome autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008159 MONDO:0005298 False postmenopausal osteoporosis osteoporosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008160 MONDO:0003847 False osteosclerosis with ichthyosis and fractures hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008161 MONDO:0016910 False otodental syndrome partial deletion of the long arm of chromosome 11 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008161 MONDO:0021147 False otodental syndrome disorder of development or morphogenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008162 MONDO:0020573 False otitis media, susceptibility to inherited disease susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008163 MONDO:0003847 False otofaciocervical syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008163 MONDO:0021147 False otofaciocervical syndrome disorder of development or morphogenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008165 MONDO:0003689 False southeast Asian ovalocytosis familial hemolytic anemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008165 MONDO:0017319 False southeast Asian ovalocytosis hereditary elliptocytosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008165 MONDO:0020102 False southeast Asian ovalocytosis hereditary stomatocytosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008166 MONDO:0003847 False ovalocytosis, hereditary hemolytic, with defective erythropoiesis hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008169 MONDO:0003847 False osteochondrodysplasia, rhizomelic, with callosal agenesis, thrombocytopenia, hydrocephalus, and hypertension hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008171 MONDO:0024647 False nephrolithiasis urolithiasis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0008172 MONDO:0002081 False hypertrophic osteoarthropathy, primary, autosomal dominant musculoskeletal system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008175 MONDO:0019707 False pacman dysplasia primary osteolysis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008176 MONDO:0800464 False Paget disease of bone 3 SQSTM1-related multisystem proteinopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008179 MONDO:0003847 False paroxysmal extreme pain disorder hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0008179 MONDO:0700057 False paroxysmal extreme pain disorder neurological pain disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008180 MONDO:0024623 False congenital velopharyngeal incompetence otorhinolaryngologic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008181 MONDO:0003847 False palmaris longus muscle, absence of hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008182 MONDO:0002254 False nasopalpebral lipoma-coloboma syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008182 MONDO:0015161 False nasopalpebral lipoma-coloboma syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008183 MONDO:0002356 False annular pancreas pancreas disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0008184 MONDO:0009832 False pancreas, dorsal, agenesis of pancreatic agenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0008185 MONDO:0003847 False hereditary chronic pancreatitis hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008185 MONDO:0005003 False hereditary chronic pancreatitis chronic pancreatitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008186 MONDO:0003847 False pancytopenia and occlusive vascular disease hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008187 MONDO:0031240 False panic disorder 1 familial panic disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0008188 MONDO:0003847 False papillomatosis, confluent and reticulated hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008189 MONDO:0003847 False papillomatosis, florid, of nipple hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008192 MONDO:0017366 False paragangliomas 1 hereditary pheochromocytoma-paraganglioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008192 MONDO:0021227 False paragangliomas 1 adrenal gland neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008193 MONDO:0009830 False paralysis agitans, juvenile, of Hunt parkinsonian-pyramidal syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0008194 MONDO:0003847 False Paramolar tubercle of bolk hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008195 MONDO:0016120 False paramyotonia congenita of Von Eulenburg myotonic syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008195 MONDO:0700223 False paramyotonia congenita of Von Eulenburg hereditary skeletal muscle disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008195 MONDO:0800468 False paramyotonia congenita of Von Eulenburg SCN4A-related channelopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008196 MONDO:0018240 False parastremmatic dwarfism TRPV4-related bone disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008196 MONDO:0019698 False parastremmatic dwarfism bent bone dysplasia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008198 MONDO:0018230 False parietal foramina with cleidocranial dysplasia skeletal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008200 MONDO:0008199 False autosomal dominant Parkinson disease 1 late-onset Parkinson disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS +MONDO:0008201 MONDO:0002254 False Perry syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0008201 MONDO:0003847 False Perry syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0008201 MONDO:0021095 False Perry syndrome parkinsonian disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0008202 MONDO:0003847 False Parotidomegaly, hereditary bilateral hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008203 MONDO:0003847 False Passovoy factor defect hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008205 MONDO:0003847 False patella aplasia/hypoplasia hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008205 MONDO:0018234 False patella aplasia/hypoplasia dysostosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008206 MONDO:0005395 False benign paroxysmal tonic upgaze of childhood with ataxia movement disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008207 MONDO:0002342 False chondromalacia patellae chondromalacia UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0008207 MONDO:0018230 False chondromalacia patellae skeletal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008208 MONDO:0003847 False patella, familial recurrent dislocation of hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008209 MONDO:0002254 False Char syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0008209 MONDO:0011827 False Char syndrome patent ductus arteriosus UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS MONDO:0008209 MONDO:0015160 False Char syndrome multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008211 MONDO:0005495 False pseudoleprechaunism syndrome, Patterson type adrenal gland disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008212 MONDO:0003847 False Pechet factor deficiency hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008213 MONDO:0003847 False pectus excavatum hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008214 MONDO:0000426 False Pelger-Huet anomaly autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0008214 MONDO:0021106 False Pelger-Huet anomaly laminopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008215 MONDO:0016956 False adult-onset autosomal dominant demyelinating leukodystrophy partial trisomy of the long arm of chromosome 5 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008215 MONDO:0019046 False adult-onset autosomal dominant demyelinating leukodystrophy leukodystrophy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS MONDO:0008215 MONDO:0021106 False adult-onset autosomal dominant demyelinating leukodystrophy laminopathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008216 MONDO:0003847 False pelvic lipomatosis with crossed renal ectopia hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008217 MONDO:0018234 False pelvis-shoulder dysplasia dysostosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008217 MONDO:0019054 False pelvis-shoulder dysplasia congenital limb malformation UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008217 MONDO:0019713 False pelvis-shoulder dysplasia non-syndromic limb reduction defect UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008218 MONDO:0019268 False Hailey-Hailey disease epidermal disease UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008218 MONDO:0100118 False Hailey-Hailey disease hereditary skin disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008221 MONDO:0019232 False prolidase deficiency inborn disorder of peptide metabolism UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008222 MONDO:0000995 False Andersen-Tawil syndrome familial periodic paralysis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0008222 MONDO:0019119 False Andersen-Tawil syndrome muscular channelopathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008223 MONDO:0000995 False hypokalemic periodic paralysis familial periodic paralysis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0008223 MONDO:0003019 False hypokalemic periodic paralysis potassium deficiency disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0008224 MONDO:0000995 False hyperkalemic periodic paralysis familial periodic paralysis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0008224 MONDO:0800468 False hyperkalemic periodic paralysis SCN4A-related channelopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008225 MONDO:0000995 False normokalemic periodic paralysis familial periodic paralysis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008226 MONDO:0003847 False periodontitis, aggressive 1 hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0008226 MONDO:0005593 False periodontitis, aggressive 1 chronic periodontitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008228 MONDO:0001700 False pernicious anemia megaloblastic anemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0008226 MONDO:0800465 False periodontitis, aggressive 1 CTSC-related disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008227 MONDO:0019695 False peripheral dysostosis acromelic dysplasia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008228 MONDO:0003847 False pernicious anemia hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0008228 MONDO:0006873 False pernicious anemia nutritional deficiency disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0008229 MONDO:0003847 False peroneal nerve, accessory deep hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008230 MONDO:0003847 False peroxidase, salivary hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008231 MONDO:0002036 False Peyronie disease penile disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0008231 MONDO:0003847 False Peyronie disease hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0008232 MONDO:0003847 False phagocytosis, plasma-related defect 1N hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008232 MONDO:0024627 False phagocytosis, plasma-related defect 1N phagocytic cell dysfunction UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008233 MONDO:0017366 False pheochromocytoma hereditary pheochromocytoma-paraganglioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008233 MONDO:0021511 False pheochromocytoma benign neoplasm of adrenal gland UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008234 MONDO:0000426 False multiple endocrine neoplasia type 2A autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0008235 MONDO:0003847 False pheochromocytoma-islet cell tumor syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008236 MONDO:0003847 False phlebectasia of lips hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008237 MONDO:0003847 False phocomelia-ectrodactyly-deafness-sinus arrhythmia syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008237 MONDO:0018234 False phocomelia-ectrodactyly-deafness-sinus arrhythmia syndrome dysostosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008237 MONDO:0019054 False phocomelia-ectrodactyly-deafness-sinus arrhythmia syndrome congenital limb malformation UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008238 MONDO:0003847 False phosphatase, acid, of tissues hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008239 MONDO:0003847 False phosphoglucomutase 4 hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008240 MONDO:0003847 False 6-phosphogluconolactonase deficiency hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -22499,9 +16754,12 @@ MONDO:0008242 MONDO:0003847 False photomyoclonus, diabetes mellitus, deafness, n MONDO:0008243 MONDO:0017276 False Pick disease frontotemporal dementia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0008243 MONDO:0024238 False Pick disease cerebral degeneration UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008243 MONDO:0044996 False Pick disease cerebral cortex disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008244 MONDO:0000426 False piebaldism autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0008244 MONDO:0005328 False piebaldism eye disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0008244 MONDO:0019290 False piebaldism hypopigmentation of the skin UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008244 MONDO:0021635 False piebaldism neurocristopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008244 MONDO:0100118 False piebaldism hereditary skin disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008245 MONDO:0019290 False piebald trait-neurologic defects syndrome hypopigmentation of the skin UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008246 MONDO:0019118 False pigmented paravenous retinochoroidal atrophy inherited retinal dystrophy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0008247 MONDO:0003847 False Robin sequence-oligodactyly syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008248 MONDO:0003847 False pigmented purpuric eruption hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -22515,11 +16773,17 @@ MONDO:0008255 MONDO:0003847 False platelet factor 3 deficiency hereditary diseas MONDO:0008256 MONDO:0003847 False platelet membrane fluidity hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008257 MONDO:0003847 False platelet responsiveness to adrenaline, depressed hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008258 MONDO:0003847 False platelet signal processing defect hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008259 MONDO:0002076 False familial spontaneous pneumothorax pneumothorax UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0008259 MONDO:0003847 False familial spontaneous pneumothorax hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0008262 MONDO:0002254 False Poland syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0008260 MONDO:0019276 False Kindler syndrome inherited epidermolysis bullosa UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008261 MONDO:0016382 False hereditary sclerosing poikiloderma, Weary type hereditary poikiloderma UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008262 MONDO:0015856 False Poland syndrome syndromic breast hypoplasia/aplasia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008262 MONDO:0019054 False Poland syndrome congenital limb malformation UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008262 MONDO:0019713 False Poland syndrome non-syndromic limb reduction defect UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008262 MONDO:0700223 False Poland syndrome hereditary skeletal muscle disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008263 MONDO:0004691 False polycystic kidney disease 1 autosomal dominant polycystic kidney disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0008264 MONDO:0000426 False autosomal dominant medullary cystic kidney disease with or without hyperuricemia autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008264 MONDO:0019741 False autosomal dominant medullary cystic kidney disease with or without hyperuricemia familial cystic renal disease UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008266 MONDO:0019673 False polydactyly, postaxial, type A1 postaxial polydactyly type A UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008268 MONDO:0002254 False polydactyly-myopia syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008269 MONDO:0800066 False polydactyly of a biphalangeal thumb polydactyly-syndactyly-triphalangism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -22528,64 +16792,105 @@ MONDO:0008272 MONDO:0000722 False polysyndactyly 4 non-syndromic synpolydactyly MONDO:0008272 MONDO:0019052 False polysyndactyly 4 inborn errors of metabolism UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008272 MONDO:0800066 False polysyndactyly 4 polydactyly-syndactyly-triphalangism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008273 MONDO:0005093 False actinic prurigo skin disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008277 MONDO:0004298 False stomach polyp stomach disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008277 MONDO:0005079 False stomach polyp polyp UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008275 MONDO:0019707 False familial expansile osteolysis primary osteolysis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008276 MONDO:0000426 False generalized juvenile polyposis/juvenile polyposis coli autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0008276 MONDO:0017380 False generalized juvenile polyposis/juvenile polyposis coli juvenile polyposis syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008278 MONDO:0015185 False juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome intestinal polyposis syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008280 MONDO:0015185 False Peutz-Jeghers syndrome intestinal polyposis syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008281 MONDO:0000147 False polyposis, intestinal, scattered and discrete polyposis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008281 MONDO:0003847 False polyposis, intestinal, scattered and discrete hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008282 MONDO:0003847 False polyposis, intestinal, with multiple exostoses hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008283 MONDO:0015185 False Cronkhite-Canada syndrome intestinal polyposis syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008283 MONDO:0019287 False Cronkhite-Canada syndrome ectodermal dysplasia syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS MONDO:0008284 MONDO:0000147 False polyposis of gastric fundus without polyposis coli polyposis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008284 MONDO:0003847 False polyposis of gastric fundus without polyposis coli hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008285 MONDO:0003847 False polyps, multiple and recurrent inflammatory fibroid, gastrointestinal hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008287 MONDO:0002254 False Greig cephalopolysyndactyly syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0008286 MONDO:0019054 False crossed polysyndactyly congenital limb malformation UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008287 MONDO:0800066 False Greig cephalopolysyndactyly syndrome polydactyly-syndactyly-triphalangism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008288 MONDO:0003847 False popliteal cyst hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008289 MONDO:0800461 False brain small vessel disease 1 with or without ocular anomalies COL4A1-related disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008290 MONDO:0019141 False porokeratosis 1, Mibelli type porokeratosis of Mibelli UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008292 MONDO:0017675 False punctate palmoplantar keratoderma type 2 punctate palmoplantar keratoderma UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0008293 MONDO:0019141 False porokeratosis 3, disseminated superficial actinic type porokeratosis of Mibelli UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008293 MONDO:0019212 False porokeratosis 3, disseminated superficial actinic type disseminated superficial actinic porokeratosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008294 MONDO:0002520 False acute intermittent porphyria hepatic porphyria UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0008294 MONDO:0020683 False acute intermittent porphyria acute disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008295 MONDO:0006504 False sporadic porphyria cutanea tarda acquired metabolic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008295 MONDO:0015104 False sporadic porphyria cutanea tarda porphyria cutanea tarda UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008296 MONDO:0015104 False familial porphyria cutanea tarda porphyria cutanea tarda UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008296 MONDO:0100498 False familial porphyria cutanea tarda UROD-related inherited porphyria UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008297 MONDO:0002520 False variegate porphyria hepatic porphyria UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0008298 MONDO:0003847 False postaxial tetramelic oligodactyly hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008298 MONDO:0018234 False postaxial tetramelic oligodactyly dysostosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008298 MONDO:0019054 False postaxial tetramelic oligodactyly congenital limb malformation UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008299 MONDO:0003847 False posterior column ataxia hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008300 MONDO:0002320 False Prader-Willi syndrome congenital nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0008300 MONDO:0015160 False Prader-Willi syndrome multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008300 MONDO:0015770 False Prader-Willi syndrome congenital hypogonadotropic hypogonadism UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008300 MONDO:0019040 False Prader-Willi syndrome chromosomal disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0008300 MONDO:0100038 False Prader-Willi syndrome complex neurodevelopmental disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008300 MONDO:0100500 False Prader-Willi syndrome Mendelian neurodevelopmental disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008301 MONDO:0002254 False Guttmacher syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0008301 MONDO:0003847 False Guttmacher syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0008303 MONDO:0003847 False familial male-limited precocious puberty hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0008303 MONDO:0015791 False familial male-limited precocious puberty peripheral precocious puberty UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008304 MONDO:0003847 False premature chromatid separation trait hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008305 MONDO:0002254 False Currarino triad syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0008305 MONDO:0005039 False Currarino triad reproductive system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0008305 MONDO:0018230 False Currarino triad skeletal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008305 MONDO:0018234 False Currarino triad dysostosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0008306 MONDO:0005620 False ABri amyloidosis cerebral amyloid angiopathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0008306 MONDO:0018591 False ABri amyloidosis ITM2B amyloidosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008307 MONDO:0003847 False presenile dementia, Kraepelin type hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008308 MONDO:0003847 False priapism, familial idiopathic hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008308 MONDO:0700007 False priapism, familial idiopathic idiopathic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008309 MONDO:0000009 False primary release disorder of platelets inherited bleeding disorder, platelet-type UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0008310 MONDO:0006025 False Hutchinson-Gilford progeria syndrome autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0008310 MONDO:0019707 False Hutchinson-Gilford progeria syndrome primary osteolysis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008310 MONDO:0021106 False Hutchinson-Gilford progeria syndrome laminopathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008311 MONDO:0002254 False progeria-short stature-pigmented nevi syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008312 MONDO:0015161 False autosomal dominant prognathism multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008313 MONDO:0020573 False pelvic organ prolapse, susceptibility to inherited disease susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008314 MONDO:0003847 False pronation-supination of the forearm, impairment of hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008316 MONDO:0019145 False thrombophilia due to protein C deficiency, autosomal dominant hereditary thrombophilia due to congenital protein C deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0008317 MONDO:0003847 False proteolytic capacity of plasma hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008318 MONDO:0017623 False Proteus syndrome PTEN hamartoma tumor syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0008318 MONDO:0018230 False Proteus syndrome skeletal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008318 MONDO:0019716 False Proteus syndrome overgrowth syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008319 MONDO:0019263 False protoporphyria, erythropoietic, 1 autosomal erythropoietic protoporphyria UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008320 MONDO:0003847 False Protrusio acetabuli hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008321 MONDO:0003847 False pruritus, hereditary localized hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008323 MONDO:0002254 False Liddle syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0008322 MONDO:0005516 False pseudoachondroplasia osteochondrodysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0008322 MONDO:0018230 False pseudoachondroplasia skeletal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008323 MONDO:0006510 False Liddle syndrome renal tubular transport disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0008323 MONDO:0100191 False Liddle syndrome inherited kidney disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008324 MONDO:0003847 False pseudoarthrogryposis hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008325 MONDO:0003847 False Pseudoatrophoderma colli hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008327 MONDO:0002254 False exfoliation syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0008327 MONDO:0001554 False exfoliation syndrome phacogenic glaucoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0008327 MONDO:0002289 False exfoliation syndrome iris disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0008327 MONDO:0018174 False exfoliation syndrome hereditary glaucoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008328 MONDO:0005338 False glaucoma 1, open angle, P open-angle glaucoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008328 MONDO:0018174 False glaucoma 1, open angle, P hereditary glaucoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008329 MONDO:0019161 False autosomal dominant pseudohypoaldosteronism type 1 pseudohypoaldosteronism type 1 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008330 MONDO:0003847 False pseudomonilethrix hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008332 MONDO:0019565 False platelet-type von Willebrand disease hereditary von Willebrand disease UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0008333 MONDO:0100091 False pseudoxanthoma elasticum, forme fruste inherited pseudoxanthoma elasticum UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008334 MONDO:0100171 False psoriasis 1, susceptibility to psoriasis, susceptibility to UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008335 MONDO:0015161 False short stature-craniofacial anomalies-genital hypoplasia syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008336 MONDO:0003847 False pterygium colli, isolated hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008337 MONDO:0003847 False familial pterygium of the conjunctiva hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008337 MONDO:0005085 False familial pterygium of the conjunctiva pterygium UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008338 MONDO:0000426 False contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0008338 MONDO:0019942 False contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A distal arthrogryposis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS +MONDO:0008339 MONDO:0021154 False antecubital pterygium syndrome dermis disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008340 MONDO:0003847 False ptosis, hereditary congenital, 1 hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0008341 MONDO:0002254 False ptosis-strabismus-ectopic pupils syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008342 MONDO:0003847 False pubic bone dysplasia hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008343 MONDO:0003847 False pulmonary atresia with ventricular septal defect hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008343 MONDO:0016581 False pulmonary atresia with ventricular septal defect conotruncal heart malformations UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0008344 MONDO:0020573 False pulmonary edema of mountaineers, susceptibility to inherited disease susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008346 MONDO:0001436 False pulmonary hemosiderosis hemosiderosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0008346 MONDO:0015926 False pulmonary hemosiderosis pneumoconiosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0008348 MONDO:0005087 False pulmonary nodular lymphoid hyperplasia respiratory system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008349 MONDO:0003847 False pulmonic stenosis, atrial septal defect, and unique electrocardiographic abnormalities hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008350 MONDO:0003847 False pulmonic stenosis and deafness hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -22595,8 +16900,11 @@ MONDO:0008353 MONDO:0024575 False pruritic urticarial papules and plaques of pre MONDO:0008354 MONDO:0003847 False purpura simplex hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008356 MONDO:0003847 False radial heads, posterior dislocation of hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008357 MONDO:0002254 False radial hypoplasia-triphalangeal thumbs-hypospadias-maxillary diastema syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008357 MONDO:0015161 False radial hypoplasia-triphalangeal thumbs-hypospadias-maxillary diastema syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008358 MONDO:0002254 False radial ray hypoplasia-choanal atresia syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008359 MONDO:0003847 False radio-renal syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008359 MONDO:0018234 False radio-renal syndrome dysostosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008359 MONDO:0019054 False radio-renal syndrome congenital limb malformation UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008361 MONDO:0003847 False radius, aplasia of, with cleft lip/palate hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008362 MONDO:0003847 False ragweed sensitivity hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008363 MONDO:0003847 False raindrop hypopigmentation hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -22607,108 +16915,183 @@ MONDO:0008367 MONDO:0003847 False red cell phospholipid defect with hemolysis he MONDO:0008368 MONDO:0000426 False autosomal dominant distal renal tubular acidosis autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008369 MONDO:0001909 False proximal renal tubular acidosis renal tubular acidosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008371 MONDO:0000118 False Dowling-Degos disease reticulate pigment disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008371 MONDO:0017747 False Dowling-Degos disease disorder of fucoglycosan synthesis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008371 MONDO:0019289 False Dowling-Degos disease hyperpigmentation of the skin UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008372 MONDO:0018998 False retinal aplasia Leber congenital amaurosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0008373 MONDO:0000473 False retinal arterial tortuosity arterial disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0008373 MONDO:0800461 False retinal arterial tortuosity COL4A1-related disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008374 MONDO:0000455 False retinal cone dystrophy type 1 cone dystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0008375 MONDO:0003847 False retinal detachment hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0008376 MONDO:0003847 False retinal venous beading hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008380 MONDO:0004338 False retinoblastoma retinal cell cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0008381 MONDO:0019200 False dominant pericentral pigmentary retinopathy retinitis pigmentosa UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS MONDO:0008382 MONDO:0000426 False retinoschisis, autosomal dominant autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008382 MONDO:0004579 False retinoschisis, autosomal dominant retinoschisis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008382 MONDO:0019118 False retinoschisis, autosomal dominant inherited retinal dystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008383 MONDO:0005554 False rheumatoid arthritis rheumatic disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0008383 MONDO:0000589 False rheumatoid arthritis autoimmune disorder of musculoskeletal system UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0008384 MONDO:0024280 False rheumatoid nodulosis polyarticular arthritis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008385 MONDO:0003847 False rhiny hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008387 MONDO:0003847 False ring dermoid of cornea hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0008387 MONDO:0021220 False ring dermoid of cornea eye neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008388 MONDO:0019278 False ringed hair disease hair anomaly UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008389 MONDO:0000426 False autosomal dominant Robinow syndrome autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008389 MONDO:0019978 False autosomal dominant Robinow syndrome Robinow syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008390 MONDO:0002051 False Rombo syndrome integumentary system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008390 MONDO:0003847 False Rombo syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008391 MONDO:0003847 False Robinow-Sorauf syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008392 MONDO:0002254 False Roussy-Levy syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008392 MONDO:0003847 False Roussy-Levy syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008394 MONDO:0002254 False Silver-Russell syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0008394 MONDO:0003847 False Silver-Russell syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0008394 MONDO:0015160 False Silver-Russell syndrome multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008394 MONDO:0019040 False Silver-Russell syndrome chromosomal disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0008395 MONDO:0002254 False Ruvalcaba syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008396 MONDO:0002254 False oculodental syndrome, Rutherfurd type syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008396 MONDO:0021147 False oculodental syndrome, Rutherfurd type disorder of development or morphogenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008397 MONDO:0002254 False aplasia of lacrimal and salivary glands syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0008397 MONDO:0003847 False aplasia of lacrimal and salivary glands hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0008398 MONDO:0003847 False salivary substance, Clostridium botulinum type hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008399 MONDO:0020573 False sarcoidosis, susceptibility to, 1 inherited disease susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008400 MONDO:0003847 False salivary duct calculi hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008401 MONDO:0000385 False pleomorphic adenoma benign digestive system neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0008401 MONDO:0003847 False pleomorphic adenoma hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0008401 MONDO:0017168 False pleomorphic adenoma benign epithelial tumor of salivary glands UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008402 MONDO:0003847 False cleft palate-large ears-small head syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008403 MONDO:0002254 False scalp defects-postaxial polydactyly syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008403 MONDO:0005172 False scalp defects-postaxial polydactyly syndrome skeletal system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008403 MONDO:0019054 False scalp defects-postaxial polydactyly syndrome congenital limb malformation UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008403 MONDO:0019294 False scalp defects-postaxial polydactyly syndrome mixed dermis disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008403 MONDO:0100118 False scalp defects-postaxial polydactyly syndrome hereditary skin disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008404 MONDO:0015161 False scalp-ear-nipple syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008404 MONDO:0019287 False scalp-ear-nipple syndrome ectodermal dysplasia syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS +MONDO:0008404 MONDO:0019294 False scalp-ear-nipple syndrome mixed dermis disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008407 MONDO:0016187 False neurogenic scapuloperoneal syndrome, Kaeser type qualitative or quantitative defects of desmin UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008407 MONDO:0024257 False neurogenic scapuloperoneal syndrome, Kaeser type hereditary motor neuron disease UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008408 MONDO:0000426 False scapuloperoneal spinal muscular atrophy, autosomal dominant autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0008408 MONDO:0001516 False scapuloperoneal spinal muscular atrophy, autosomal dominant spinal muscular atrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0008408 MONDO:0024257 False scapuloperoneal spinal muscular atrophy, autosomal dominant hereditary motor neuron disease UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008409 MONDO:0000727 False congenital myopathy 7A, myosin storage, autosomal dominant scapuloperoneal myopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0008409 MONDO:0002320 False congenital myopathy 7A, myosin storage, autosomal dominant congenital nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0008409 MONDO:0016195 False congenital myopathy 7A, myosin storage, autosomal dominant qualitative or quantitative defects of beta-myosin heavy chain (MYH7) UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008409 MONDO:0019952 False congenital myopathy 7A, myosin storage, autosomal dominant congenital myopathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS MONDO:0008410 MONDO:0018383 False Scheuermann disease osteonecrosis of genetic origin UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008411 MONDO:0002254 False ulnar-mammary syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0008411 MONDO:0015160 False ulnar-mammary syndrome multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008411 MONDO:0019713 False ulnar-mammary syndrome non-syndromic limb reduction defect UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008412 MONDO:0015254 False intestinal schistosomiasis schistosomiasis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0008412 MONDO:0024271 False intestinal schistosomiasis intestinal helminthiasis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008414 MONDO:0005090 False schizophrenia 1 schizophrenia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS +MONDO:0008416 MONDO:0017666 False palmoplantar keratoderma-sclerodactyly syndrome diffuse palmoplantar keratoderma UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008417 MONDO:0019629 False sclerocornea, autosomal dominant sclerocornea UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008418 MONDO:0005100 False scleroderma, familial progressive systemic sclerosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008419 MONDO:0020573 False scoliosis, isolated, susceptibility to, 1 inherited disease susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008420 MONDO:0006566 False seborrheic keratosis keratosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0008420 MONDO:0100118 False seborrheic keratosis hereditary skin disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008421 MONDO:0015161 False flat face-microstomia-ear anomaly syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008422 MONDO:0000426 False autosomal dominant sideroblastic anemia autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0008423 MONDO:0012061 False sinus node disease and myopia familial sick sinus syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0008424 MONDO:0003847 False sella turcica, bridged hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008425 MONDO:0015159 False omphalocele syndrome, Shprintzen-Goldberg type multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008426 MONDO:0015159 False Shprintzen-Goldberg syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008426 MONDO:0015338 False Shprintzen-Goldberg syndrome syndromic craniosynostosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008426 MONDO:0017310 False Shprintzen-Goldberg syndrome Marfan and Marfan-related disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008427 MONDO:0003847 False sister chromatid exchange, frequency of hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008428 MONDO:0000429 False septooptic dysplasia autosomal genetic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0008429 MONDO:0002254 False Singleton-Merten dysplasia syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008429 MONDO:0023603 False Singleton-Merten dysplasia hereditary disorder of connective tissue UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008430 MONDO:0003847 False skeletal dysplasia with delayed epiphyseal and carpal bone ossification hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008431 MONDO:0003847 False slipped femoral capital epiphyses hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008433 MONDO:0003847 False small cell lung carcinoma hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0008434 MONDO:0000508 False Smith-Magenis syndrome syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0008434 MONDO:0000761 False Smith-Magenis syndrome syndrome caused by partial chromosomal deletion UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0008434 MONDO:0002320 False Smith-Magenis syndrome congenital nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0008434 MONDO:0003847 False Smith-Magenis syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0008434 MONDO:0015159 False Smith-Magenis syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008435 MONDO:0003847 False Somatomedin, embryonic hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008436 MONDO:0000473 False Sneddon syndrome arterial disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0008436 MONDO:0019293 False Sneddon syndrome skin vascular disease UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0008436 MONDO:0100118 False Sneddon syndrome hereditary skin disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008436 MONDO:0100317 False Sneddon syndrome deficiency of adenosine deaminase 2 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008438 MONDO:0100523 False hereditary spastic paraplegia 4 SPAST-related motor disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008439 MONDO:0015087 False spastic paraplegia-epilepsy-intellectual disability syndrome autosomal dominant complex spastic paraplegia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008440 MONDO:0015087 False spastic paraplegia-nephritis-deafness syndrome autosomal dominant complex spastic paraplegia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008441 MONDO:0003847 False spastic paraplegia with associated extrapyramidal signs hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008442 MONDO:0015087 False spastic paraplegia-neuropathy-poikiloderma syndrome autosomal dominant complex spastic paraplegia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008443 MONDO:0015087 False spastic paraplegia-precocious puberty syndrome autosomal dominant complex spastic paraplegia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008444 MONDO:0003847 False spastic paraplegia, optic atrophy, and dementia hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008445 MONDO:0015159 False delayed speech-facial asymmetry-strabismus-ear lobe creases syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008446 MONDO:0003847 False sperm protamine P4 hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008449 MONDO:0002320 False spina bifida congenital nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0008447 MONDO:0019350 False hereditary spherocytosis type 1 hereditary spherocytosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0008449 MONDO:0002545 False spina bifida spinal cord disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0008449 MONDO:0021147 False spina bifida disorder of development or morphogenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008450 MONDO:0015304 False spinal arachnoiditis arachnoiditis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008451 MONDO:0015626 False neuronopathy, distal hereditary motor, autosomal dominant 1 Charcot-Marie-Tooth disease UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS +MONDO:0008451 MONDO:0015362 False neuronopathy, distal hereditary motor, autosomal dominant 1 neuronopathy, distal hereditary motor, autosomal dominant UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS MONDO:0008452 MONDO:0001516 False spinal muscular atrophy, facioscapulohumeral type spinal muscular atrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008453 MONDO:0001516 False adult-onset proximal spinal muscular atrophy, autosomal dominant spinal muscular atrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0008453 MONDO:0024257 False adult-onset proximal spinal muscular atrophy, autosomal dominant hereditary motor neuron disease UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008454 MONDO:0008813 False spinal intradural arachnoid cysts arachnoid cyst UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008455 MONDO:0001516 False spinal muscular atrophy, segmental spinal muscular atrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008456 MONDO:0003847 False spinocerebellar ataxia with rigidity and peripheral neuropathy hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008457 MONDO:0019793 False spinocerebellar ataxia type 6 autosomal dominant cerebellar ataxia type III UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008457 MONDO:0100254 False spinocerebellar ataxia type 6 CACNA1A-related complex neurodevelopmental disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008458 MONDO:0015548 False spinocerebellar ataxia type 2 Huntington disease-like syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008458 MONDO:0019792 False spinocerebellar ataxia type 2 autosomal dominant cerebellar ataxia type I UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008459 MONDO:0003847 False spinocerebellar atrophy with pupillary paralysis hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008460 MONDO:0003847 False splenogonadal fusion-limb defects-micrognathia syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008460 MONDO:0018234 False splenogonadal fusion-limb defects-micrognathia syndrome dysostosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008460 MONDO:0019054 False splenogonadal fusion-limb defects-micrognathia syndrome congenital limb malformation UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008461 MONDO:0003847 False splenomegaly syndrome with splenic Germinal center hypoplasia and reduced circulating T helper cells hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008462 MONDO:0003847 False split lower lip hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008463 MONDO:0003847 False split-hand and split-foot with hypodontia hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008465 MONDO:0018237 False Patterson-Stevenson-Fontaine syndrome acrofacial dysostosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008466 MONDO:0003847 False Karsch-Neugebauer syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008466 MONDO:0018234 False Karsch-Neugebauer syndrome dysostosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008466 MONDO:0019054 False Karsch-Neugebauer syndrome congenital limb malformation UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008467 MONDO:0002254 False Czeizel-Losonci syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008467 MONDO:0015161 False Czeizel-Losonci syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008469 MONDO:0100510 False spondyloepimetaphyseal dysplasia-hypotrichosis syndrome spondyloepimetaphyseal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008470 MONDO:0016761 False spondyloepiphyseal dysplasia with punctate corneal dystrophy spondyloepiphyseal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0008471 MONDO:0016761 False spondyloepiphyseal dysplasia congenita spondyloepiphyseal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0008471 MONDO:0022800 False spondyloepiphyseal dysplasia congenita type 2 collagenopathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008472 MONDO:0016761 False spondyloepiphyseal dysplasia, MacDermot type spondyloepiphyseal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008473 MONDO:0018240 False spondyloepimetaphyseal dysplasia, Maroteaux type TRPV4-related bone disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008473 MONDO:0100510 False spondyloepimetaphyseal dysplasia, Maroteaux type spondyloepimetaphyseal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0008474 MONDO:0000426 False spondyloepiphyseal dysplasia tarda, autosomal dominant autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0008474 MONDO:0019667 False spondyloepiphyseal dysplasia tarda, autosomal dominant spondyloepiphyseal dysplasia tarda UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0008475 MONDO:0000836 False spondylolisthesis disease of bone structure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0008475 MONDO:0003847 False spondylolisthesis hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0008476 MONDO:0022800 False spondyloepimetaphyseal dysplasia, Strudwick type type 2 collagenopathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008476 MONDO:0100510 False spondyloepimetaphyseal dysplasia, Strudwick type spondyloepimetaphyseal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0008477 MONDO:0018240 False spondylometaphyseal dysplasia, Kozlowski type TRPV4-related bone disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008478 MONDO:0016763 False spondylometaphyseal dysplasia, Schmidt type spondylometaphyseal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS +MONDO:0008478 MONDO:0022800 False spondylometaphyseal dysplasia, Schmidt type type 2 collagenopathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008479 MONDO:0022800 False spondylometaphyseal dysplasia, 'corner fracture' type type 2 collagenopathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008481 MONDO:0003847 False spondylosis, cervical hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008482 MONDO:0015929 False Sprengel deformity thoracic malformation UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008484 MONDO:0100521 False stapes ankylosis with broad thumbs and toes NOG-related symphalangism spectrum disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008485 MONDO:0006607 False sebocystomatosis sebaceous gland disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0008485 MONDO:0100118 False sebocystomatosis hereditary skin disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008486 MONDO:0021147 False steatocystoma multiplex-natal teeth syndrome disorder of development or morphogenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008487 MONDO:0002254 False polycystic ovary syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0008487 MONDO:0003847 False polycystic ovary syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0008487 MONDO:0005151 False polycystic ovary syndrome endocrine system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0008488 MONDO:0015159 False holoprosencephaly-radial heart renal anomalies syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008489 MONDO:0003847 False sternum, premature obliteration of sutures of hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008491 MONDO:0002254 False stiff-person syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0008490 MONDO:0015161 False otospondylomegaepiphyseal dysplasia, autosomal dominant multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008491 MONDO:0005071 False stiff-person syndrome nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0008492 MONDO:0100118 False stiff skin syndrome hereditary skin disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008493 MONDO:0020102 False overhydrated hereditary stomatocytosis hereditary stomatocytosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008494 MONDO:0020102 False cryohydrocytosis hereditary stomatocytosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008495 MONDO:0018795 False platelet storage pool deficiency syndromic constitutional thrombocytopenia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008496 MONDO:0003847 False storm syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008497 MONDO:0018795 False Stormorken syndrome syndromic constitutional thrombocytopenia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008498 MONDO:0020573 False strabismus, susceptibility to inherited disease susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008499 MONDO:0015160 False short stature-wormian bones-dextrocardia syndrome multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008500 MONDO:0003847 False striae distensae, familial hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008501 MONDO:0003847 False Sturge-Weber syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0008501 MONDO:0005328 False Sturge-Weber syndrome eye disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0008501 MONDO:0042983 False Sturge-Weber syndrome neurocutaneous syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008502 MONDO:0006988 False sulfhemoglobinemia, congenital sulfhemoglobinemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008502 MONDO:0009332 False sulfhemoglobinemia, congenital congenital hematological disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008502 MONDO:0019050 False sulfhemoglobinemia, congenital inherited hemoglobinopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008503 MONDO:0005071 False Worster-Drought syndrome nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008504 MONDO:0003847 False supravalvular aortic stenosis hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0008504 MONDO:0042981 False supravalvular aortic stenosis aortic valve stenosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0008505 MONDO:0003847 False surface antigen, glycoprotein 75 hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008506 MONDO:0000151 False symphalangism of toes symphalangism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008506 MONDO:0003847 False symphalangism of toes hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -22720,23 +17103,31 @@ MONDO:0008509 MONDO:0003847 False distal symphalangism hereditary disease UNSUPP MONDO:0008509 MONDO:0021147 False distal symphalangism disorder of development or morphogenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008510 MONDO:0000151 False symphalangism with multiple anomalies of hands and feet symphalangism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008510 MONDO:0003847 False symphalangism with multiple anomalies of hands and feet hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008510 MONDO:0019054 False symphalangism with multiple anomalies of hands and feet congenital limb malformation UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008511 MONDO:0000151 False proximal symphalangism symphalangism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008511 MONDO:0000426 False proximal symphalangism autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0008511 MONDO:0019054 False proximal symphalangism congenital limb malformation UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008512 MONDO:0016953 False syndactyly type 1 partial duplication of the long arm of chromosome 2 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008512 MONDO:0019530 False syndactyly type 1 non-syndromic syndactyly UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008512 MONDO:0800066 False syndactyly type 1 polydactyly-syndactyly-triphalangism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008513 MONDO:0000722 False synpolydactyly type 1 non-syndromic synpolydactyly UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008513 MONDO:0011348 False synpolydactyly type 1 non-syndromic polydactyly UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008513 MONDO:0800066 False synpolydactyly type 1 polydactyly-syndactyly-triphalangism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008514 MONDO:0019530 False syndactyly type 3 non-syndromic syndactyly UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008514 MONDO:0800066 False syndactyly type 3 polydactyly-syndactyly-triphalangism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008515 MONDO:0019530 False syndactyly type 4 non-syndromic syndactyly UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008515 MONDO:0800066 False syndactyly type 4 polydactyly-syndactyly-triphalangism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008516 MONDO:0019530 False syndactyly type 5 non-syndromic syndactyly UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008516 MONDO:0800066 False syndactyly type 5 polydactyly-syndactyly-triphalangism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008517 MONDO:0002254 False syndactyly-polydactyly-ear lobe syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008518 MONDO:0000426 False calcaneonavicular coalition autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0008518 MONDO:0001411 False calcaneonavicular coalition synostosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0008519 MONDO:0100521 False multiple synostoses syndrome 1 NOG-related symphalangism spectrum disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008520 MONDO:0005497 False brachydactyly-elbow wrist dysplasia syndrome bone development disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008520 MONDO:0018230 False brachydactyly-elbow wrist dysplasia syndrome skeletal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008521 MONDO:0019054 False tarsal-carpal coalition syndrome congenital limb malformation UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008521 MONDO:0100521 False tarsal-carpal coalition syndrome NOG-related symphalangism spectrum disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008522 MONDO:0003847 False synovial chondromatosis, familial, with dwarfism hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008523 MONDO:0007179 False Blau syndrome autoimmune disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS MONDO:0008523 MONDO:0019338 False Blau syndrome sarcoidosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0008523 MONDO:0023603 False Blau syndrome hereditary disorder of connective tissue UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008524 MONDO:0003847 False syringomas, multiple hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -22748,31 +17139,43 @@ MONDO:0008529 MONDO:0003847 False T-cell Subgroups, non-HLA-linked hereditary di MONDO:0008530 MONDO:0003847 False teeth, odd shapes of hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008532 MONDO:0003847 False teeth present at birth hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008533 MONDO:0003847 False teeth, supernumerary hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008534 MONDO:0019293 False generalized essential telangiectasia skin vascular disease UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008536 MONDO:0003847 False temperature-sensitive lethal mutation hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008537 MONDO:0003382 False telecanthus eyelid disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008538 MONDO:0002341 False temporal arteritis granulomatous angiitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0008538 MONDO:0003346 False temporal arteritis central nervous system vasculitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0008540 MONDO:0019054 False extensor tendons of finger anomalies congenital limb malformation UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008541 MONDO:0003847 False spermatic cord torsion hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0008542 MONDO:0003847 False tetralogy of fallot hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0008542 MONDO:0016581 False tetralogy of fallot conotruncal heart malformations UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0008543 MONDO:0003847 False tetralogy of fallot and glaucoma hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008544 MONDO:0003847 False tetramelic monodactyly hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008544 MONDO:0018234 False tetramelic monodactyly dysostosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008544 MONDO:0019054 False tetramelic monodactyly congenital limb malformation UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008545 MONDO:0019402 False thalassemia, beta+, silent allele beta thalassemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008546 MONDO:0000426 False thanatophoric dysplasia type 1 autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008549 MONDO:0003847 False thoracic dysostosis, isolated hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008551 MONDO:0015929 False thoracolaryngopelvic dysplasia thoracic malformation UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008551 MONDO:0019691 False thoracolaryngopelvic dysplasia short rib dysplasia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008552 MONDO:0021181 False platelet-type bleeding disorder 16 inherited blood coagulation disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008554 MONDO:0019713 False thrombocythemia 1 non-syndromic limb reduction defect UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008556 MONDO:0100241 False thrombocytopenia, cyclic inherited thrombocytopenia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0008557 MONDO:0016910 False Paris-Trousseau thrombocytopenia partial deletion of the long arm of chromosome 11 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008557 MONDO:0020117 False Paris-Trousseau thrombocytopenia alpha granule disease UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008558 MONDO:0000009 False autoimmune thrombocytopenic purpura inherited bleeding disorder, platelet-type UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS +MONDO:0008558 MONDO:0004680 False autoimmune thrombocytopenic purpura primary thrombocytopenia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0008558 MONDO:0019098 False autoimmune thrombocytopenic purpura autoimmune thrombocytopenia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008558 MONDO:0021181 False autoimmune thrombocytopenic purpura inherited blood coagulation disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008558 MONDO:0043768 False autoimmune thrombocytopenic purpura thrombocytopenic purpura UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008558 MONDO:0100241 False autoimmune thrombocytopenic purpura inherited thrombocytopenia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0008560 MONDO:0002242 False thrombophilia due to activated protein C resistance coagulation protein disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008561 MONDO:0003847 False thumb deformity hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008564 MONDO:0001222 False DiGeorge syndrome congenital T-cell immunodeficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0008562 MONDO:0019054 False thumb deformity-alopecia-pigmentation anomaly syndrome congenital limb malformation UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008563 MONDO:0019054 False thumb stiffness-brachydactyly-intellectual disability syndrome congenital limb malformation UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008564 MONDO:0018923 False DiGeorge syndrome 22q11.2 deletion syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008564 MONDO:0021635 False DiGeorge syndrome neurocristopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008565 MONDO:0005586 False familial thyroglossal duct cyst head and neck neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008565 MONDO:0006460 False familial thyroglossal duct cyst thyroglossal duct cyst UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008565 MONDO:0015074 False familial thyroglossal duct cyst thyroid tumor UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008565 MONDO:0015476 False familial thyroglossal duct cyst cysts and fistulae of the face and oral cavity UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008565 MONDO:0018751 False familial thyroglossal duct cyst hereditary otorhinolaryngologic disease UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008566 MONDO:0005034 False thyroid cancer, nonmedullary, 2 thyroid gland follicular carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008566 MONDO:0017895 False thyroid cancer, nonmedullary, 2 familial papillary or follicular thyroid carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -22781,9 +17184,10 @@ MONDO:0008568 MONDO:0003847 False thyroid hormone plasma membrane transport defe MONDO:0008569 MONDO:0009043 False thyroid hormone resistance, generalized, autosomal dominant generalized resistance to thyroid hormone UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008570 MONDO:0020573 False thyrotoxic periodic paralysis, susceptibility to, 1 inherited disease susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008571 MONDO:0017194 False Blount disease, infantile Blount disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008572 MONDO:0018234 False tibia, hypoplasia or aplasia of, with polydactyly dysostosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0008572 MONDO:0019054 False tibia, hypoplasia or aplasia of, with polydactyly congenital limb malformation UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008572 MONDO:0019713 False tibia, hypoplasia or aplasia of, with polydactyly non-syndromic limb reduction defect UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008573 MONDO:0003847 False tibial torsion, bilateral medial hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008575 MONDO:0005303 False nicotine dependence drug dependence UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0008576 MONDO:0003847 False toe, fifth, number of phalanges 1N hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008577 MONDO:0003847 False toe, misshapen hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008578 MONDO:0003847 False toe, rotated fifth hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -22792,32 +17196,49 @@ MONDO:0008580 MONDO:0003847 False toes, space between first and second hereditar MONDO:0008581 MONDO:0003847 False malposition of teeth with or without hypodontia/oligodontia hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008583 MONDO:0023603 False inherited torticollis hereditary disorder of connective tissue UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008584 MONDO:0003847 False torus palatinus and torus mandibularis hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008585 MONDO:0002254 False HELLP syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0008585 MONDO:0001641 False HELLP syndrome severe pre-eclampsia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0008586 MONDO:0003749 False esophageal atresia/tracheoesophageal fistula esophageal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0008587 MONDO:0005087 False tracheobronchopathia osteochondroplastica respiratory system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008588 MONDO:0005395 False hereditary geniospasm movement disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008589 MONDO:0003847 False tremor of intention, ataxia, and lipofuscinosis hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008591 MONDO:0005395 False tremor-nystagmus-duodenal ulcer syndrome movement disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008592 MONDO:0018230 False tricho-dento-osseous syndrome skeletal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008592 MONDO:0019287 False tricho-dento-osseous syndrome ectodermal dysplasia syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS MONDO:0008593 MONDO:0003847 False trichomegaly hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008594 MONDO:0002531 False familial multiple discoid fibromas skin neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008594 MONDO:0100118 False familial multiple discoid fibromas hereditary skin disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008595 MONDO:0003847 False trichoepitheliomas, multiple desmoplastic hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008596 MONDO:0000426 False trichorhinophalangeal syndrome type I autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0008597 MONDO:0000426 False trichorhinophalangeal syndrome, type III autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0008598 MONDO:0019278 False trichodysplasia-xeroderma syndrome hair anomaly UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008599 MONDO:0002602 False trigeminal neuralgia central nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0008599 MONDO:0003543 False trigeminal neuralgia trigeminal nerve disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0008599 MONDO:0016374 False trigeminal neuralgia cranial neuralgia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008600 MONDO:0003847 False trigger thumb hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008601 MONDO:0000155 False triglyceride storage disease, type 1 triglyceride storage disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008602 MONDO:0000155 False triglyceride storage disease, type 2 triglyceride storage disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008604 MONDO:0003847 False triphalangeal thumb with double phalanges hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008605 MONDO:0003847 False triphalangeal thumb, Nonopposable hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008606 MONDO:0019054 False Say-field-Coldwell syndrome congenital limb malformation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008607 MONDO:0019054 False triphalangeal thumbs-brachyectrodactyly syndrome congenital limb malformation UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008608 MONDO:0700124 False Down syndrome chromosome 21 disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008609 MONDO:0003847 False Tristichiasis hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008610 MONDO:0001703 False blue color blindness color vision disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0008610 MONDO:0003847 False blue color blindness hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0008611 MONDO:0003847 False humerus trochlea aplasia hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008611 MONDO:0018234 False humerus trochlea aplasia dysostosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008611 MONDO:0019054 False humerus trochlea aplasia congenital limb malformation UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008613 MONDO:0003847 False Tuftsin deficiency hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008614 MONDO:0003847 False suppressor of tumorigenicity 3 hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008615 MONDO:0003847 False tune deafness hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008618 MONDO:0018230 False mesomelic dwarfism, Reinhardt-Pfeiffer type skeletal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008618 MONDO:0023599 False mesomelic dwarfism, Reinhardt-Pfeiffer type mesomelic dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008619 MONDO:0005516 False ulna metaphyseal dysplasia syndrome osteochondrodysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008619 MONDO:0018230 False ulna metaphyseal dysplasia syndrome skeletal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008620 MONDO:0018230 False upper limb mesomelic dysplasia skeletal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008620 MONDO:0023599 False upper limb mesomelic dysplasia mesomelic dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008621 MONDO:0019278 False uncombable hair syndrome hair anomaly UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008622 MONDO:0019287 False tricho-retino-dento-digital syndrome ectodermal dysplasia syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0008623 MONDO:0003847 False Undritz anomaly hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008624 MONDO:0002081 False Upington disease musculoskeletal system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008624 MONDO:0003847 False Upington disease hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -22828,11 +17249,16 @@ MONDO:0008629 MONDO:0003847 False urolithiasis, uric acid, autosomal dominant he MONDO:0008630 MONDO:0003847 False urinary bladder, atony of hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008632 MONDO:0005492 False urticaria, aquagenic urticaria UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008632 MONDO:0100118 False urticaria, aquagenic hereditary skin disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008633 MONDO:0000426 False Muckle-Wells syndrome autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0008633 MONDO:0016168 False Muckle-Wells syndrome cryopyrin-associated periodic syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008634 MONDO:0005492 False urticaria, familial localized heat urticaria UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008634 MONDO:0100118 False urticaria, familial localized heat hereditary skin disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008635 MONDO:0003847 False uterine anomalies hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008636 MONDO:0002254 False double uterus-hemivagina-renal agenesis syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008636 MONDO:0005039 False double uterus-hemivagina-renal agenesis syndrome reproductive system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008636 MONDO:0021147 False double uterus-hemivagina-renal agenesis syndrome disorder of development or morphogenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008637 MONDO:0016064 False bifid uvula cleft palate UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008638 MONDO:0004634 False varicose disease vein disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0008639 MONDO:0003847 False vascular helix of umbilical cord hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008640 MONDO:0018882 False vasculitis, lymphocytic, nodular vasculitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008640 MONDO:0100118 False vasculitis, lymphocytic, nodular hereditary skin disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -22841,52 +17267,119 @@ MONDO:0008641 MONDO:0002311 False retinal vasculopathy with cerebral leukoenceph MONDO:0008641 MONDO:0019118 False retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations inherited retinal dystrophy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0008643 MONDO:0003847 False veins, pattern of, on anterior thorax hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008644 MONDO:0018923 False velocardiofacial syndrome 22q11.2 deletion syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008645 MONDO:0015161 False ventricular extrasystoles with syncopal episodes-perodactyly-robin sequence syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008648 MONDO:0003847 False ventricular tachycardia, familial hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008648 MONDO:0005477 False ventricular tachycardia, familial ventricular tachycardia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008649 MONDO:0003847 False venular insufficiency, systemic hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008650 MONDO:0002254 False posterior fusion of lumbosacral vertebrae-blepharoptosis syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008650 MONDO:0015161 False posterior fusion of lumbosacral vertebrae-blepharoptosis syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008651 MONDO:0003847 False vertebral hypoplasia with lumbar kyphosis hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008654 MONDO:0005712 False nystagmus 4, congenital, autosomal dominant congenital nystagmus UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0008652 MONDO:0003847 False congenital vertical talus hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0008652 MONDO:0017427 False congenital vertical talus congenital deformities of limbs UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008654 MONDO:0020380 False spinocerebellar ataxia 27A autosomal dominant cerebellar ataxia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0008655 MONDO:0003847 False vestibulocochlear dysfunction, progressive hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008659 MONDO:0019220 False transcobalamin I deficiency inborn disorder of cobalamin metabolism and transport UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008660 MONDO:0000426 False autosomal dominant hypophosphatemic rickets autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0008660 MONDO:0800096 False autosomal dominant hypophosphatemic rickets abnormal mineralization disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008661 MONDO:0002406 False vitiligo dermatitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0008662 MONDO:0020248 False autosomal dominant vitreoretinochoroidopathy vitreoretinal degeneration UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008661 MONDO:0007179 False vitiligo autoimmune disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0008662 MONDO:0700240 False autosomal dominant vitreoretinochoroidopathy BEST1-related vitreoretinochoroidopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008663 MONDO:0020248 False snowflake vitreoretinal degeneration vitreoretinal degeneration UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008665 MONDO:0002254 False ptosis-vocal cord paralysis syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008666 MONDO:0003847 False volvulus of midgut hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008667 MONDO:0042983 False von Hippel-Lindau disease neurocutaneous syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008668 MONDO:0019565 False von Willebrand disease 1 hereditary von Willebrand disease UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0008669 MONDO:0005271 False vulvovaginitis, allergic seminal allergic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008669 MONDO:0007019 False vulvovaginitis, allergic seminal vulvovaginitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008671 MONDO:0019517 False Waardenburg syndrome type 2A Waardenburg syndrome type 2 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008672 MONDO:0011035 False Watson syndrome neurofibromatosis-Noonan syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING -MONDO:0008675 MONDO:0002254 False Freeman-Sheldon syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0008673 MONDO:0015161 False acrofacial dysostosis, Weyers type multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008673 MONDO:0018237 False acrofacial dysostosis, Weyers type acrofacial dysostosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0008673 MONDO:0019287 False acrofacial dysostosis, Weyers type ectodermal dysplasia syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS MONDO:0008675 MONDO:0002320 False Freeman-Sheldon syndrome congenital nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0008675 MONDO:0008779 False Freeman-Sheldon syndrome arthrogryposis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008675 MONDO:0015161 False Freeman-Sheldon syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008678 MONDO:0016906 False Williams syndrome partial deletion of the long arm of chromosome 7 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008678 MONDO:0700092 False Williams syndrome neurodevelopmental disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008684 MONDO:0002254 False Wolf-Hirschhorn syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0008685 MONDO:0003847 False Wolff-Parkinson-White syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0008681 MONDO:0016893 False WAGR syndrome partial deletion of the short arm of chromosome 11 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008681 MONDO:0020040 False WAGR syndrome 46,XY disorder of sex development UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008682 MONDO:0000426 False Denys-Drash syndrome autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0008682 MONDO:0020040 False Denys-Drash syndrome 46,XY disorder of sex development UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008684 MONDO:0015159 False Wolf-Hirschhorn syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008684 MONDO:0022762 False Wolf-Hirschhorn syndrome chromosome 4 short arm deletion UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008685 MONDO:0000992 False Wolff-Parkinson-White syndrome heart conduction disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0008685 MONDO:0800484 False Wolff-Parkinson-White syndrome PRKAG2-related cardiomyopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008686 MONDO:0019278 False isolated familial wooly hair disorder hair anomaly UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008687 MONDO:0003847 False Woronets trait hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008688 MONDO:0001713 False WT limb-blood syndrome inherited aplastic anemia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008689 MONDO:0003689 False dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema familial hemolytic anemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0008689 MONDO:0017910 False dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema dehydrated hereditary stomatocytosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0008690 MONDO:0019600 False xeroderma pigmentosum, autosomal dominant, mild xeroderma pigmentosum UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008691 MONDO:0003847 False zinc, elevated plasma hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008692 MONDO:0003689 False abetalipoproteinemia familial hemolytic anemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0008692 MONDO:0005020 False abetalipoproteinemia intestinal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0008692 MONDO:0017774 False abetalipoproteinemia hypobetalipoproteinemia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0008692 MONDO:0020044 False abetalipoproteinemia autosomal recessive metabolic cerebellar ataxia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008692 MONDO:0020127 False abetalipoproteinemia hereditary peripheral neuropathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008693 MONDO:0002254 False ablepharon macrostomia syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0008693 MONDO:0003847 False ablepharon macrostomia syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0008693 MONDO:0015160 False ablepharon macrostomia syndrome multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008694 MONDO:0015159 False pseudoprogeria syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008695 MONDO:0016987 False chorea-acanthocytosis neuroacanthocytosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0008695 MONDO:0019268 False chorea-acanthocytosis epidermal disease UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008695 MONDO:0020127 False chorea-acanthocytosis hereditary peripheral neuropathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008695 MONDO:0100118 False chorea-acanthocytosis hereditary skin disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008696 MONDO:0007035 False acanthosis nigricans-insulin resistance-muscle cramps-acral enlargement syndrome acanthosis nigricans UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008696 MONDO:0019268 False acanthosis nigricans-insulin resistance-muscle cramps-acral enlargement syndrome epidermal disease UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008698 MONDO:0003749 False achalasia esophageal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0008699 MONDO:0006025 False achalasia microcephaly syndrome autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0008700 MONDO:0005516 False acheiropody osteochondrodysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0008700 MONDO:0019713 False acheiropody non-syndromic limb reduction defect UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008701 MONDO:0800080 False achondrogenesis type IA severe spondylodysplastic dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008703 MONDO:0019648 False acromesomelic dysplasia 2A achondrogenesis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS +MONDO:0008702 MONDO:0022800 False achondrogenesis type II type 2 collagenopathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008704 MONDO:0017855 False short-limb skeletal dysplasia with severe combined immunodeficiency T-B- severe combined immunodeficiency UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008705 MONDO:0002561 False lysosomal acid phosphatase deficiency lysosomal storage disease UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008706 MONDO:0015161 False Ackerman syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008706 MONDO:0019287 False Ackerman syndrome ectodermal dysplasia syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0008707 MONDO:0015161 False acro-renal-mandibular syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008708 MONDO:0015159 False acrocallosal syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008708 MONDO:0800066 False acrocallosal syndrome polydactyly-syndactyly-triphalangism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008708 MONDO:0800463 False acrocallosal syndrome KIF7-related ciliopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008709 MONDO:0015338 False acrocephalopolydactyly syndromic craniosynostosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008711 MONDO:0000078 False Goodman syndrome acrocephalopolysyndactyly UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008711 MONDO:0015160 False Goodman syndrome multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008712 MONDO:0015161 False acrocraniofacial dysostosis multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008712 MONDO:0018237 False acrocraniofacial dysostosis acrofacial dysostosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008713 MONDO:0004689 False acrodermatitis enteropathica inborn metal metabolism disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0008713 MONDO:0017764 False acrodermatitis enteropathica disorder of zinc metabolism UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008714 MONDO:0015159 False acrofacial dysostosis Rodriguez type multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008714 MONDO:0018237 False acrofacial dysostosis Rodriguez type acrofacial dysostosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0008715 MONDO:0018237 False acrofrontofacionasal dysostosis acrofacial dysostosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0008716 MONDO:0019303 False acrogeria premature aging syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008716 MONDO:0100118 False acrogeria hereditary skin disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008718 MONDO:0019119 False Morvan syndrome muscular channelopathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008719 MONDO:0006025 False acrorenal syndrome, autosomal recessive autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008719 MONDO:0007059 False acrorenal syndrome, autosomal recessive acrorenal syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0008720 MONDO:0013099 False congenital isolated adrenocorticotropic hormone deficiency combined pituitary hormone deficiencies, genetic form UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0008720 MONDO:0016553 False congenital isolated adrenocorticotropic hormone deficiency isolated congenital hypogonadotropic hypogonadism UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008721 MONDO:0017714 False medium chain acyl-CoA dehydrogenase deficiency acyl-CoA dehydrogenase deficiency UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008722 MONDO:0017714 False short chain acyl-CoA dehydrogenase deficiency acyl-CoA dehydrogenase deficiency UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008723 MONDO:0017713 False very long chain acyl-CoA dehydrogenase deficiency disorder of fatty acid oxidation and ketogenesis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008723 MONDO:0024573 False very long chain acyl-CoA dehydrogenase deficiency familial hypertrophic cardiomyopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS +MONDO:0008724 MONDO:0015168 False adducted thumbs-arthrogryposis syndrome, Christian type arthrogryposis multiplex congenita UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0008725 MONDO:0018479 False congenital lipoid adrenal hyperplasia due to STAR deficency congenital adrenal hyperplasia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008725 MONDO:0019852 False congenital lipoid adrenal hyperplasia due to STAR deficency inherited primary ovarian failure UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0008726 MONDO:0008803 False Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis Antley-Bixler syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008727 MONDO:0005039 False congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency reproductive system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008727 MONDO:0018479 False congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency congenital adrenal hyperplasia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008728 MONDO:0005039 False classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency reproductive system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008728 MONDO:0018479 False classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency congenital adrenal hyperplasia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008729 MONDO:0005039 False congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency reproductive system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008729 MONDO:0018479 False congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency congenital adrenal hyperplasia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008730 MONDO:0005039 False congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency reproductive system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008730 MONDO:0018479 False congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency congenital adrenal hyperplasia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008731 MONDO:0015129 False familial adrenal hypoplasia with absent pituitary luteinizing hormone chronic primary adrenal insufficiency UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0008731 MONDO:0015770 False familial adrenal hypoplasia with absent pituitary luteinizing hormone congenital hypogonadotropic hypogonadism UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008731 MONDO:0020040 False familial adrenal hypoplasia with absent pituitary luteinizing hormone 46,XY disorder of sex development UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008732 MONDO:0010264 False adrenal hypoplasia, cytomegalic type X-linked adrenal hypoplasia congenita UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0008733 MONDO:0003847 False familial glucocorticoid deficiency hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0008733 MONDO:0015129 False familial glucocorticoid deficiency chronic primary adrenal insufficiency UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS MONDO:0008734 MONDO:0003008 False adrenocortical carcinoma, hereditary hereditary renal cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008734 MONDO:0006639 False adrenocortical carcinoma, hereditary adrenal cortex carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008735 MONDO:0008733 False adrenocortical unresponsiveness to ACTH with postreceptor defect familial glucocorticoid deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING @@ -22895,28 +17388,61 @@ MONDO:0008737 MONDO:0014452 False congenital afibrinogenemia familial dysfibrino MONDO:0008738 MONDO:0003847 False aganglionosis, total intestinal hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008739 MONDO:0003847 False agenesis of cerebral white matter hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008740 MONDO:0003847 False agnathia-otocephaly complex hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0008740 MONDO:0015159 False agnathia-otocephaly complex multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008741 MONDO:0002254 False PAGOD syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008741 MONDO:0015161 False PAGOD syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008741 MONDO:0020040 False PAGOD syndrome 46,XY disorder of sex development UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008742 MONDO:0000426 False autosomal dominant severe congenital neutropenia autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0008743 MONDO:0015159 False Stimmler syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008744 MONDO:0015161 False alar cartilages hypoplasia-coloboma-telecanthus syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008745 MONDO:0018135 False oculocutaneous albinism type 1A oculocutaneous albinism type 1 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008745 MONDO:0040653 False oculocutaneous albinism type 1A autosomal recessive ocular albinism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008748 MONDO:0016501 False Hermansky-Pudlak syndrome 1 Hermansky-Pudlak syndrome with pulmonary fibrosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008749 MONDO:0019992 False pseudohypoparathyroidism type 2 pseudohypoparathyroidism UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008750 MONDO:0015161 False microcephaly-albinism-digital anomalies syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008751 MONDO:0002525 False corticosterone methyloxidase type 1 deficiency inherited lipid metabolism disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0008751 MONDO:0020489 False corticosterone methyloxidase type 1 deficiency familial hyperreninemic hypoaldosteronism type 1 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008751 MONDO:0018541 False corticosterone methyloxidase type 1 deficiency familial hypoaldosteronism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008751 MONDO:0045012 False corticosterone methyloxidase type 1 deficiency steroid metabolism disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008753 MONDO:0017307 False alkaptonuria disorder of tyrosine metabolism UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008754 MONDO:0019287 False alopecia - contractures - dwarfism - intellectual disability syndrome ectodermal dysplasia syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0008755 MONDO:0015650 False Moynahan syndrome epilepsy syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008755 MONDO:0019289 False Moynahan syndrome hyperpigmentation of the skin UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008756 MONDO:0002254 False alopecia - intellectual disability syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0008756 MONDO:0003847 False alopecia - intellectual disability syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0008758 MONDO:0002254 False mitochondrial DNA depletion syndrome 4a syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0008758 MONDO:0015653 False mitochondrial DNA depletion syndrome 4a monogenic epilepsy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008758 MONDO:0020127 False mitochondrial DNA depletion syndrome 4a hereditary peripheral neuropathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008758 MONDO:0024237 False mitochondrial DNA depletion syndrome 4a inherited neurodegenerative disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008758 MONDO:0100033 False mitochondrial DNA depletion syndrome 4a metabolic epilepsy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008758 MONDO:0100512 False mitochondrial DNA depletion syndrome 4a mitochondrial DNA depletion syndrome, hepatocerebral form UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008759 MONDO:0004069 False oxoglutaricaciduria inborn mitochondrial metabolism disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0008759 MONDO:0015653 False oxoglutaricaciduria monogenic epilepsy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008759 MONDO:0016790 False oxoglutaricaciduria tricarboxylic acid cycle disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008759 MONDO:0020127 False oxoglutaricaciduria hereditary peripheral neuropathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008759 MONDO:0100033 False oxoglutaricaciduria metabolic epilepsy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008760 MONDO:0006025 False beta-ketothiolase deficiency autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0008760 MONDO:0019215 False beta-ketothiolase deficiency classic organic aciduria UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008760 MONDO:0019229 False beta-ketothiolase deficiency inborn disorder of ketolysis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008762 MONDO:0006025 False autosomal recessive Alport syndrome autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0008763 MONDO:0005308 False Alstrom syndrome ciliopathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0008763 MONDO:0006025 False Alstrom syndrome autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0008764 MONDO:0100453 False Leber congenital amaurosis 1 GUCY2D-related recessive retinopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008765 MONDO:0100368 False Leber congenital amaurosis 2 RPE65-related recessive retinopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008766 MONDO:0019118 False amaurosis-hypertrichosis syndrome inherited retinal dystrophy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008767 MONDO:0019262 False neuronal ceroid lipofuscinosis 3 juvenile neuronal ceroid lipofuscinosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008768 MONDO:0019260 False ceroid lipofuscinosis, neuronal, 6B (Kufs type) adult neuronal ceroid lipofuscinosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008769 MONDO:0015674 False neuronal ceroid lipofuscinosis 2 late infantile neuronal ceroid lipofuscinosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008769 MONDO:0019262 False neuronal ceroid lipofuscinosis 2 juvenile neuronal ceroid lipofuscinosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008770 MONDO:0015047 False amelogenesis imperfecta type 1C amelogenesis imperfecta type 1 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008771 MONDO:0021147 False amelogenesis imperfecta type 1G disorder of development or morphogenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008772 MONDO:0015048 False amelogenesis imperfecta type 2A1 amelogenesis imperfecta type 2 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008773 MONDO:0003847 False amino aciduria with mental deficiency, dwarfism, muscular dystrophy, osteoporosis, and acidosis hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008774 MONDO:0017351 False 2-aminoadipic 2-oxoadipic aciduria inborn disorder of lysine and hydroxylysine metabolism UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008775 MONDO:0003847 False Amobarbital, deficient N-hydroxylation of hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008776 MONDO:0003847 False amyloidosis of gingiva and conjunctiva, with intellectual disability hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008777 MONDO:0000763 False gelatinous drop-like corneal dystrophy epithelial and subepithelial corneal dystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0008777 MONDO:0003847 False gelatinous drop-like corneal dystrophy hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0008777 MONDO:0004686 False gelatinous drop-like corneal dystrophy lattice corneal dystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0008777 MONDO:0020212 False gelatinous drop-like corneal dystrophy superficial corneal dystrophy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008778 MONDO:0003847 False amyloidosis, cutaneous bullous hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008779 MONDO:0003847 False arthrogryposis hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008779 MONDO:0005395 False arthrogryposis movement disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -22924,30 +17450,53 @@ MONDO:0008780 MONDO:0017593 False amyotrophic lateral sclerosis type 2, juvenile MONDO:0008780 MONDO:0100227 False amyotrophic lateral sclerosis type 2, juvenile ALS2-related motor neuron disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008781 MONDO:0017593 False juvenile amyotrophic lateral sclerosis with dementia juvenile amyotrophic lateral sclerosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008782 MONDO:0004976 False amyotrophic lateral sclerosis with polyglucosan bodies amyotrophic lateral sclerosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008783 MONDO:0001822 False Tangier disease hypolipoproteinemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0008783 MONDO:0017773 False Tangier disease hypoalphalipoproteinemia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008785 MONDO:0016828 False sideroblastic anemia 2 autosomal recessive sideroblastic anemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008786 MONDO:0015194 False pyridoxine-responsive sideroblastic anemia sideroblastic anemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0008787 MONDO:0016624 False microcytic anemia with liver iron overload inherited deficiency anemia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008787 MONDO:0017763 False microcytic anemia with liver iron overload disorder of iron metabolism and transport UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008788 MONDO:0001245 False IRIDA syndrome microcytic anemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008788 MONDO:0016624 False IRIDA syndrome inherited deficiency anemia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008789 MONDO:0000105 False anemia, nonspherocytic hemolytic, associated with abnormality of red cell membrane anemia, nonspherocytic hemolytic UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008790 MONDO:0000105 False anemia, nonspherocytic hemolytic, possibly due to defect in porphyrin metabolism anemia, nonspherocytic hemolytic UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008791 MONDO:0015159 False anencephaly 1 multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008792 MONDO:0019296 False familial angiolipomatosis subcutaneous tissue disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008793 MONDO:0003847 False angiomatosis, diffuse Corticomeningeal, of Divry and van Bogaert hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008794 MONDO:0006527 False anhidrosis, familial generalized, with abnormal or absent sweat glands anhidrosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008794 MONDO:0100118 False anhidrosis, familial generalized, with abnormal or absent sweat glands hereditary skin disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008795 MONDO:0002254 False aniridia-cerebellar ataxia-intellectual disability syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0008795 MONDO:0011119 False aniridia-cerebellar ataxia-intellectual disability syndrome iridogoniodysgenesis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0008796 MONDO:0002254 False aniridia-renal agenesis-psychomotor retardation syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008796 MONDO:0003847 False aniridia-renal agenesis-psychomotor retardation syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008796 MONDO:0015159 False aniridia-renal agenesis-psychomotor retardation syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008796 MONDO:0024458 False aniridia-renal agenesis-psychomotor retardation syndrome disorder of visual system UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008797 MONDO:0003847 False anodontia hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0008797 MONDO:0006999 False anodontia tooth disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0008798 MONDO:0019211 False nonsyndromic congenital nail disorder 4 isolated congenital anonychia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008799 MONDO:0015160 False anophthalmia/microphthalmia-esophageal atresia syndrome multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008800 MONDO:0006025 False microphthalmia with limb anomalies autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0008800 MONDO:0015160 False microphthalmia with limb anomalies multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008801 MONDO:0003847 False anosmia for isobutyric acid hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008802 MONDO:0003847 False antithrombin, familial hemorrhagic diathesis due to hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008803 MONDO:0011679 False Antley-Bixler syndrome craniosynostosis syndrome, autosomal recessive UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008803 MONDO:0015160 False Antley-Bixler syndrome multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008803 MONDO:0015338 False Antley-Bixler syndrome syndromic craniosynostosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008806 MONDO:0003847 False Aphalangy-hemivertebrae-urogenital-intestinal dysgenesis syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008806 MONDO:0018234 False Aphalangy-hemivertebrae-urogenital-intestinal dysgenesis syndrome dysostosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008806 MONDO:0019054 False Aphalangy-hemivertebrae-urogenital-intestinal dysgenesis syndrome congenital limb malformation UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008808 MONDO:0002254 False aplasia cutis congenita-intestinal lymphangiectasia syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008808 MONDO:0005020 False aplasia cutis congenita-intestinal lymphangiectasia syndrome intestinal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008808 MONDO:0019175 False aplasia cutis congenita-intestinal lymphangiectasia syndrome primary lymphedema UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008808 MONDO:0019294 False aplasia cutis congenita-intestinal lymphangiectasia syndrome mixed dermis disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008809 MONDO:0015358 False polyneuropathy-hand defect syndrome hereditary motor and sensory neuropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008809 MONDO:0015364 False polyneuropathy-hand defect syndrome hereditary sensory and autonomic neuropathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0008810 MONDO:0001336 False familial apolipoprotein C-II deficiency familial hyperlipidemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0008810 MONDO:0015905 False familial apolipoprotein C-II deficiency syndromic dyslipidemia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008810 MONDO:0018637 False familial apolipoprotein C-II deficiency familial chylomicronemia syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0008811 MONDO:0005560 False XK aprosencephaly brain disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008812 MONDO:0019287 False AREDYLD syndrome ectodermal dysplasia syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0008813 MONDO:0020022 False arachnoid cyst central nervous system malformation UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008814 MONDO:0800153 False hyperargininemia urea cycle disorder or inherited hyperammonemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008815 MONDO:0037871 False argininosuccinic aciduria amino acid metabolism disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008815 MONDO:0800153 False argininosuccinic aciduria urea cycle disorder or inherited hyperammonemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -22958,113 +17507,199 @@ MONDO:0008818 MONDO:0023603 False arterial tortuosity syndrome hereditary disord MONDO:0008818 MONDO:0100237 False arterial tortuosity syndrome inherited cutis laxa UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0008819 MONDO:0003847 False arteriosclerosis, severe juvenile hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008821 MONDO:0003847 False arthrogryposis, distal, with intellectual disability and characteristic facies hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008824 MONDO:0002254 False fetal akinesia deformation sequence syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0008824 MONDO:0015161 False fetal akinesia deformation sequence multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008824 MONDO:0015168 False fetal akinesia deformation sequence arthrogryposis multiplex congenita UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS MONDO:0008824 MONDO:0015929 False fetal akinesia deformation sequence thoracic malformation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008825 MONDO:0015168 False arthrogryposis multiplex congenita-whistling face syndrome arthrogryposis multiplex congenita UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0008826 MONDO:0015168 False arthrogryposis-hyperkeratosis syndrome, lethal form arthrogryposis multiplex congenita UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0008827 MONDO:0016761 False progressive pseudorheumatoid arthropathy of childhood spondyloepiphyseal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0008828 MONDO:0005554 False camptodactyly-arthropathy-coxa vara-pericarditis syndrome rheumatic disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0008828 MONDO:0006025 False camptodactyly-arthropathy-coxa vara-pericarditis syndrome autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0008828 MONDO:0023603 False camptodactyly-arthropathy-coxa vara-pericarditis syndrome hereditary disorder of connective tissue UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008829 MONDO:0019175 False chylous ascites primary lymphedema UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008830 MONDO:0019251 False aspartylglucosaminuria oligosaccharidosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008830 MONDO:0800088 False aspartylglucosaminuria lysosomal storage disease with skeletal involvement UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008832 MONDO:0018677 False right atrial isomerism visceral heterotaxy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS MONDO:0008834 MONDO:0003847 False asthma, nasal polyps, and aspirin intolerance hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0008835 MONDO:0003847 False asthma, short stature, and elevated IgA hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008836 MONDO:0003847 False ataxia with myoclonic epilepsy and presenile dementia hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008837 MONDO:0003847 False ataxia, deafness, and cardiomyopathy hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008838 MONDO:0016612 False ataxia - deafness - intellectual disability syndrome X-linked cerebellar ataxia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008839 MONDO:0003847 False ataxia-microcephaly-cataract syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008840 MONDO:0015131 False ataxia telangiectasia combined immunodeficiency UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0008840 MONDO:0005071 False ataxia telangiectasia nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0008840 MONDO:0019852 False ataxia telangiectasia inherited primary ovarian failure UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0008841 MONDO:0008840 False ataxia-telangiectasia with generalized skin pigmentation and early death ataxia telangiectasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0008842 MONDO:0011457 False ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia ataxia-telangiectasia-like disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0008842 MONDO:0021190 False ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia DNA repair disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008843 MONDO:0003847 False atherosclerosis-deafness-diabetes-epilepsy-nephropathy syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008844 MONDO:0003847 False Athrombia, essential hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008845 MONDO:0003847 False atonic-astatic syndrome of Foerster hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008846 MONDO:0004689 False atransferrinemia inborn metal metabolism disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0008846 MONDO:0016624 False atransferrinemia inherited deficiency anemia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008846 MONDO:0017763 False atransferrinemia disorder of iron metabolism and transport UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008847 MONDO:0003847 False atrichia with papular lesions hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0008847 MONDO:0004907 False atrichia with papular lesions alopecia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0008848 MONDO:0003847 False atrioventricular dissociation hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008849 MONDO:0018855 False atrophoderma vermiculata keratosis pilaris atrophicans UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS MONDO:0008850 MONDO:0015161 False Cooper-Jabs syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008853 MONDO:0001334 False Barber-Say syndrome hypertrichosis of eyelid UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0008853 MONDO:0015161 False Barber-Say syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008853 MONDO:0019287 False Barber-Say syndrome ectodermal dysplasia syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS MONDO:0008853 MONDO:0020159 False Barber-Say syndrome congenital entropion UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008855 MONDO:0031520 False MHC class II deficiency familial severe combined immunodeficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0008856 MONDO:0019146 False immunodeficiency 27A inherited susceptibility to mycobacterial diseases UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008857 MONDO:0015161 False Beemer-Ertbruggen syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008858 MONDO:0005071 False Behr syndrome nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0008858 MONDO:0006025 False Behr syndrome autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0008858 MONDO:0800181 False Behr syndrome OPA1-related optic atrophy with or without extraocular features UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008859 MONDO:0003847 False berry aneurysm, cirrhosis, pulmonary emphysema, and cerebral calcification hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008860 MONDO:0003847 False beta-aminoisobutyric acid, urinary excretion of hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008861 MONDO:0004739 False 3-methylcrotonyl-CoA carboxylase 1 deficiency urea cycle disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0008863 MONDO:0015905 False sitosterolemia syndromic dyslipidemia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008864 MONDO:0015159 False Biemond syndrome type 2 multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008865 MONDO:0016420 False Bietti crystalline corneoretinal dystrophy familial flecked retinopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008866 MONDO:0000110 False bifid nose, autosomal recessive bifid nose UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008866 MONDO:0006025 False bifid nose, autosomal recessive autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008866 MONDO:0018751 False bifid nose, autosomal recessive hereditary otorhinolaryngologic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008867 MONDO:0006322 False biliary atresia non-neoplastic bile duct disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008867 MONDO:0001751 False biliary atresia cholestasis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0008868 MONDO:0003847 False biliary malformation with renal tubular insufficiency hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008870 MONDO:0015159 False bird headed-dwarfism, Montreal type multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008870 MONDO:0018230 False bird headed-dwarfism, Montreal type skeletal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008871 MONDO:0000060 False microcephalic osteodysplastic primordial dwarfism type I microcephalic osteodysplastic primordial dwarfism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008871 MONDO:0005516 False microcephalic osteodysplastic primordial dwarfism type I osteochondrodysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0008871 MONDO:0016994 False microcephalic osteodysplastic primordial dwarfism type I microcephalic osteodysplastic primordial dwarfism types I and III UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008871 MONDO:0100500 False microcephalic osteodysplastic primordial dwarfism type I Mendelian neurodevelopmental disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008872 MONDO:0000060 False microcephalic osteodysplastic primordial dwarfism type II microcephalic osteodysplastic primordial dwarfism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008872 MONDO:0005516 False microcephalic osteodysplastic primordial dwarfism type II osteochondrodysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0008872 MONDO:0100500 False microcephalic osteodysplastic primordial dwarfism type II Mendelian neurodevelopmental disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008872 MONDO:0800063 False microcephalic osteodysplastic primordial dwarfism type II primordial dwarfism and slender bone disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008873 MONDO:0000060 False microcephalic osteodysplastic primordial dwarfism, type 3 microcephalic osteodysplastic primordial dwarfism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008873 MONDO:0016994 False microcephalic osteodysplastic primordial dwarfism, type 3 microcephalic osteodysplastic primordial dwarfism types I and III UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008873 MONDO:0100500 False microcephalic osteodysplastic primordial dwarfism, type 3 Mendelian neurodevelopmental disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008874 MONDO:0015126 False Bangstad syndrome polyendocrinopathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008875 MONDO:0002254 False blepharophimosis-ptosis-esotropia-syndactyly-short stature syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008875 MONDO:0015161 False blepharophimosis-ptosis-esotropia-syndactyly-short stature syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008876 MONDO:0005570 False Bloom syndrome hematologic disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0008876 MONDO:0006025 False Bloom syndrome autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0008876 MONDO:0015951 False Bloom syndrome hereditary photodermatosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008876 MONDO:0019040 False Bloom syndrome chromosomal disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0008876 MONDO:0021147 False Bloom syndrome disorder of development or morphogenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008877 MONDO:0019216 False blue diaper syndrome inborn disorder of amino acid transport UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008878 MONDO:0005516 False bone dysplasia, lethal Holmgren type osteochondrodysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008878 MONDO:0018230 False bone dysplasia, lethal Holmgren type skeletal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008879 MONDO:0006025 False Bowen-Conradi syndrome autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0008879 MONDO:0015159 False Bowen-Conradi syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008880 MONDO:0003847 False Bowen syndrome of multiple malformations hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008881 MONDO:0019698 False kyphomelic dysplasia bent bone dysplasia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008882 MONDO:0017427 False congenital bowing of long bones congenital deformities of limbs UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008882 MONDO:0019698 False congenital bowing of long bones bent bone dysplasia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008883 MONDO:0003847 False brachydactyly, type A2, with microcephaly hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008884 MONDO:0019287 False oculoosteocutaneous syndrome ectodermal dysplasia syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0008885 MONDO:0002254 False Elsahy-Waters syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0008885 MONDO:0003847 False Elsahy-Waters syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0008885 MONDO:0015159 False Elsahy-Waters syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008886 MONDO:0003847 False Sabinas brittle hair syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0008887 MONDO:0018956 False bronchiectasis with or without elevated sweat chloride 1 idiopathic bronchiectasis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008888 MONDO:0005087 False Williams-Campbell syndrome respiratory system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008889 MONDO:0021166 False thromboangiitis obliterans inflammatory disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008890 MONDO:0002782 False progressive bulbar palsy cranial nerve palsy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0008890 MONDO:0005560 False progressive bulbar palsy brain disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0008890 MONDO:0006496 False progressive bulbar palsy palsy UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008890 MONDO:0008891 False progressive bulbar palsy riboflavin transporter deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0008891 MONDO:0024257 False riboflavin transporter deficiency hereditary motor neuron disease UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008893 MONDO:0015159 False C syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008893 MONDO:0015338 False C syndrome syndromic craniosynostosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008894 MONDO:0019280 False cataract-hypertrichosis-intellectual disability syndrome hypertrichosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008894 MONDO:0019287 False cataract-hypertrichosis-intellectual disability syndrome ectodermal dysplasia syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0008895 MONDO:0003847 False hereditary arterial and articular multiple calcification syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0008895 MONDO:0005385 False hereditary arterial and articular multiple calcification syndrome vascular disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0008896 MONDO:0002254 False campomelia, Cumming type syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008896 MONDO:0015160 False campomelia, Cumming type multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008896 MONDO:0019313 False campomelia, Cumming type lymphatic malformation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0008896 MONDO:0019698 False campomelia, Cumming type bent bone dysplasia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008898 MONDO:0000111 False camptodactyly syndrome, Guadalajara type 1 camptodactyly syndrome, Guadalajara UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008898 MONDO:0015161 False camptodactyly syndrome, Guadalajara type 1 multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008899 MONDO:0000111 False camptodactyly syndrome, Guadalajara type 2 camptodactyly syndrome, Guadalajara UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008899 MONDO:0015161 False camptodactyly syndrome, Guadalajara type 2 multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008899 MONDO:0018234 False camptodactyly syndrome, Guadalajara type 2 dysostosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008899 MONDO:0019054 False camptodactyly syndrome, Guadalajara type 2 congenital limb malformation UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008900 MONDO:0006025 False camptodactyly with fibrous tissue hyperplasia and skeletal dysplasia autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008900 MONDO:0015159 False camptodactyly with fibrous tissue hyperplasia and skeletal dysplasia multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008900 MONDO:0018234 False camptodactyly with fibrous tissue hyperplasia and skeletal dysplasia dysostosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008901 MONDO:0020120 False Tel Hashomer camptodactyly syndrome skeletal muscle disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008902 MONDO:0003847 False camptodactyly-ichthyosis syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008903 MONDO:0000376 False lung cancer respiratory system cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0008904 MONDO:0002254 False camptomelic syndrome, long-limb type syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008905 MONDO:0015979 False predisposition to invasive fungal disease due to CARD9 deficiency hereditary predisposition to infections UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008907 MONDO:0017740 False PMM2-congenital disorder of glycosylation disorder of protein N-glycosylation UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008908 MONDO:0005267 False MGAT2-congenital disorder of glycosylation heart disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0008908 MONDO:0015327 False MGAT2-congenital disorder of glycosylation developmental anomaly of metabolic origin UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008908 MONDO:0017740 False MGAT2-congenital disorder of glycosylation disorder of protein N-glycosylation UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008909 MONDO:0003847 False congenital disorder of glycosylation, type i/IIx hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008910 MONDO:0003847 False carboxypeptidase N deficiency hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0008911 MONDO:0010771 False cardiac lipidosis, familial histiocytoid cardiomyopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0008912 MONDO:0003847 False cardiac septal defects with coarctation of the aorta hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008913 MONDO:0021147 False cardiac valvular defect, developmental disorder of development or morphogenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008913 MONDO:0031323 False cardiac valvular defect, developmental cardiac valvular defect UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0008914 MONDO:0003847 False cardioauditory syndrome of Sanchez Cascos hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008915 MONDO:0003150 False dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome male reproductive system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0008915 MONDO:0003847 False dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0008915 MONDO:0005151 False dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome endocrine system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0008915 MONDO:0005267 False dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome heart disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0008916 MONDO:0003847 False cardiomyopathy associated with myopathy and sudden death hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008917 MONDO:0005453 False heart defects-limb shortening syndrome congenital heart disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008917 MONDO:0006025 False heart defects-limb shortening syndrome autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008917 MONDO:0015161 False heart defects-limb shortening syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008918 MONDO:0017713 False carnitine-acylcarnitine translocase deficiency disorder of fatty acid oxidation and ketogenesis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008918 MONDO:0017716 False carnitine-acylcarnitine translocase deficiency disorder of carnitine cycle and carnitine transport UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008919 MONDO:0017713 False systemic primary carnitine deficiency disease disorder of fatty acid oxidation and ketogenesis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008919 MONDO:0017716 False systemic primary carnitine deficiency disease disorder of carnitine cycle and carnitine transport UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008920 MONDO:0003847 False carnitine deficiency, myopathic hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008921 MONDO:0009351 False carnosinemia homocarnosinosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0008922 MONDO:0005267 False Sengers syndrome heart disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0008922 MONDO:0016801 False Sengers syndrome mitochondrial substrate carrier disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008922 MONDO:0018117 False Sengers syndrome disorder of phospholipids, sphingolipids and fatty acids biosynthesis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008923 MONDO:0006025 False autosomal recessive palmoplantar keratoderma and congenital alopecia autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0008923 MONDO:0017666 False autosomal recessive palmoplantar keratoderma and congenital alopecia diffuse palmoplantar keratoderma UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008923 MONDO:0019287 False autosomal recessive palmoplantar keratoderma and congenital alopecia ectodermal dysplasia syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS MONDO:0008924 MONDO:0002254 False congenital cataract-ichthyosis syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008924 MONDO:0015947 False congenital cataract-ichthyosis syndrome inherited ichthyosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008925 MONDO:0011060 False cataract 46 juvenile-onset early-onset non-syndromic cataract UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0008926 MONDO:0006025 False COFS syndrome autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0008926 MONDO:0016073 False COFS syndrome syndromic microphthalmia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS MONDO:0008926 MONDO:0021190 False COFS syndrome DNA repair disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008927 MONDO:0002254 False colobomatous optic disc-macular atrophy-chorioretinopathy syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0008927 MONDO:0003847 False colobomatous optic disc-macular atrophy-chorioretinopathy syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0008927 MONDO:0024458 False colobomatous optic disc-macular atrophy-chorioretinopathy syndrome disorder of visual system UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008928 MONDO:0100309 False cataract-ataxia-deafness syndrome hereditary ataxia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008930 MONDO:0020573 False celiac disease, susceptibility to, 1 inherited disease susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008931 MONDO:0019054 False Cenani-Lenz syndactyly syndrome congenital limb malformation UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008931 MONDO:0800066 False Cenani-Lenz syndactyly syndrome polydactyly-syndactyly-triphalangism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008932 MONDO:0003847 False premature centromere division hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008933 MONDO:0003847 False cephalin lipidosis hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008934 MONDO:0019287 False cerebellar ataxia-ectodermal dysplasia syndrome ectodermal dysplasia syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0008935 MONDO:0015770 False cerebellar ataxia-hypogonadism syndrome congenital hypogonadotropic hypogonadism UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008935 MONDO:0024237 False cerebellar ataxia-hypogonadism syndrome inherited neurodegenerative disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008936 MONDO:0003847 False cerebellar ataxia and neurosensory deafness hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008937 MONDO:0003847 False cerebellar ataxia, benign, with thermoanalgesia hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008939 MONDO:0002320 False isolated cerebellar hypoplasia/agenesis congenital nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0008938 MONDO:0020046 False early-onset cerebellar ataxia with retained tendon reflexes autosomal recessive degenerative and progressive cerebellar ataxia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008939 MONDO:0021147 False isolated cerebellar hypoplasia/agenesis disorder of development or morphogenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008941 MONDO:0002254 False hepatic fibrosis-renal cysts-intellectual disability syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008943 MONDO:0020043 False autosomal recessive spinocerebellar ataxia 2 autosomal recessive congenital cerebellar ataxia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008945 MONDO:0000114 False myoclonic cerebellar dyssynergia cerebelloparenchymal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008945 MONDO:0024237 False myoclonic cerebellar dyssynergia inherited neurodegenerative disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008946 MONDO:0003847 False cerebral angiopathy, dysphoric hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008947 MONDO:0003996 False bilateral striopallidodentate calcinosis basal ganglia disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0008947 MONDO:0015547 False bilateral striopallidodentate calcinosis hereditary dementia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008948 MONDO:0002615 False cerebrotendinous xanthomatosis xanthomatosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0008948 MONDO:0004884 False cerebrotendinous xanthomatosis eye degenerative disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0008948 MONDO:0015905 False cerebrotendinous xanthomatosis syndromic dyslipidemia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008948 MONDO:0019046 False cerebrotendinous xanthomatosis leukodystrophy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS +MONDO:0008948 MONDO:0019218 False cerebrotendinous xanthomatosis inborn disorder of bile acid synthesis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008948 MONDO:0019296 False cerebrotendinous xanthomatosis subcutaneous tissue disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008948 MONDO:0020044 False cerebrotendinous xanthomatosis autosomal recessive metabolic cerebellar ataxia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008948 MONDO:0020127 False cerebrotendinous xanthomatosis hereditary peripheral neuropathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008948 MONDO:0020143 False cerebrotendinous xanthomatosis cerebral lipidosis with dementia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0008948 MONDO:0022687 False cerebrotendinous xanthomatosis cerebellar degeneration UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0008948 MONDO:0045016 False cerebrotendinous xanthomatosis cholesterol catabolic process disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008949 MONDO:0003847 False cerebral malformation, seizures, hypertrichosis, and overlapping fingers hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -23077,27 +17712,42 @@ MONDO:0008959 MONDO:0003847 False CHAND syndrome hereditary disease UNSUPPORTED- MONDO:0008960 MONDO:0002254 False Charcot-Marie-Tooth disease-hearing loss-intellectual disability syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008960 MONDO:0003847 False Charcot-Marie-Tooth disease-hearing loss-intellectual disability syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008961 MONDO:0012014 False Charcot-Marie-Tooth disease type 4A Charcot-Marie-Tooth disease recessive intermediate A UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS +MONDO:0008961 MONDO:0018995 False Charcot-Marie-Tooth disease type 4A Charcot-Marie-Tooth disease type 4 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0008962 MONDO:0005071 False Griscelli syndrome type 1 nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0008963 MONDO:0002320 False Chediak-Higashi syndrome congenital nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0008963 MONDO:0015134 False Chediak-Higashi syndrome constitutional neutropenia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008963 MONDO:0015541 False Chediak-Higashi syndrome hereditary hemophagocytic lymphohistiocytosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0008963 MONDO:0017305 False Chediak-Higashi syndrome syndromic oculocutaneous albinism UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008963 MONDO:0017739 False Chediak-Higashi syndrome disorder of lysosomal-related organelles UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008963 MONDO:0020127 False Chediak-Higashi syndrome hereditary peripheral neuropathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008963 MONDO:0024237 False Chediak-Higashi syndrome inherited neurodegenerative disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008964 MONDO:0045032 False congenital secretory chloride diarrhea 1 congenital secretory diarrhea UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008965 MONDO:0005267 False CHARGE syndrome heart disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0008965 MONDO:0015160 False CHARGE syndrome multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008965 MONDO:0015770 False CHARGE syndrome congenital hypogonadotropic hypogonadism UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008965 MONDO:0021635 False CHARGE syndrome neurocristopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008966 MONDO:0005154 False Aagenaes syndrome liver disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0008966 MONDO:0019175 False Aagenaes syndrome primary lymphedema UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008967 MONDO:0002320 False congenital bile acid synthesis defect 4 congenital nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0008967 MONDO:0013681 False congenital bile acid synthesis defect 4 alpha-methylacyl-CoA racemase deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS MONDO:0008968 MONDO:0003847 False cholestasis with gallstone, ataxia, and visual disturbance hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008969 MONDO:0003847 False cholesterol pneumonia hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008970 MONDO:0019702 False chondrodysplasia Blomstrand type neonatal osteosclerotic dysplasia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008971 MONDO:0009943 False chondrodysplasia calcificans Metaphysealis Pyle disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0008972 MONDO:0004884 False rhizomelic chondrodysplasia punctata type 1 eye degenerative disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0008972 MONDO:0015905 False rhizomelic chondrodysplasia punctata type 1 syndromic dyslipidemia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008972 MONDO:0100272 False rhizomelic chondrodysplasia punctata type 1 peroxisome biogenesis disorder due to PEX7 defect UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008973 MONDO:0015775 False chondrodysplasia punctata, Toriello type non-rhizomelic chondrodysplasia punctata UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008974 MONDO:0019240 False Greenberg dysplasia sterol biosynthesis disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008974 MONDO:0019701 False Greenberg dysplasia chondrodysplasia punctata UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0008974 MONDO:0021106 False Greenberg dysplasia laminopathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008975 MONDO:0016761 False otospondylomegaepiphyseal dysplasia spondyloepiphyseal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0008976 MONDO:0003847 False chondroitin-6-sulfaturia, defective cellular immunity, nephrotic syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008977 MONDO:0021581 False chondrosarcoma connective tissue neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008977 MONDO:0023603 False chondrosarcoma hereditary disorder of connective tissue UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008979 MONDO:0001595 False chorea, benign familial choreatic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008980 MONDO:0015770 False ataxia-hypogonadism-choroidal dystrophy syndrome congenital hypogonadotropic hypogonadism UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008980 MONDO:0100309 False ataxia-hypogonadism-choroidal dystrophy syndrome hereditary ataxia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0008981 MONDO:0002254 False infantile choroidocerebral calcification syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008982 MONDO:0001898 False central areolar choroidal dystrophy optic choroid disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008982 MONDO:0003847 False central areolar choroidal dystrophy hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -23108,10 +17758,18 @@ MONDO:0008986 MONDO:0003847 False circumvallate placenta syndrome hereditary dis MONDO:0008988 MONDO:0800153 False citrullinemia type I urea cycle disorder or inherited hyperammonemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008989 MONDO:0003847 False citrulline transport defect hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008990 MONDO:0016060 False cleft larynx, posterior laryngotracheoesophageal cleft UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008991 MONDO:0015161 False Verloove Vanhorick-Brubakk syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008992 MONDO:0015161 False Juberg-Hayward syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008993 MONDO:0021147 False cleft palate-stapes fixation-oligodontia syndrome disorder of development or morphogenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008994 MONDO:0005516 False cleidocranial dysplasia, recessive form osteochondrodysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008995 MONDO:0002254 False Yunis-Varon syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0008995 MONDO:0018230 False Yunis-Varon syndrome skeletal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008998 MONDO:0016006 False Cockayne syndrome type 3 Cockayne syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008999 MONDO:0000508 False Cohen syndrome syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0008999 MONDO:0002320 False Cohen syndrome congenital nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0008999 MONDO:0003847 False Cohen syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0008999 MONDO:0015134 False Cohen syndrome constitutional neutropenia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008999 MONDO:0015159 False Cohen syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009000 MONDO:0021154 False familial reactive perforating collagenosis dermis disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009001 MONDO:0020242 False macular coloboma-cleft palate-hallux valgus syndrome hereditary macular dystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009002 MONDO:0001476 False coloboma, ocular, autosomal recessive coloboma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -23121,285 +17779,505 @@ MONDO:0009005 MONDO:0000015 False complement component C1r/C1s deficiency classi MONDO:0009005 MONDO:0015699 False complement component C1r/C1s deficiency immunodeficiency due to a classical component pathway complement deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009006 MONDO:0000015 False complement component 2 deficiency classic complement early component deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009006 MONDO:0015699 False complement component 2 deficiency immunodeficiency due to a classical component pathway complement deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009007 MONDO:0003847 False Jalili syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0009007 MONDO:0021147 False Jalili syndrome disorder of development or morphogenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009008 MONDO:0003847 False heart defect - tongue hamartoma - polysyndactyly syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0009008 MONDO:0015161 False heart defect - tongue hamartoma - polysyndactyly syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009009 MONDO:0002242 False hypoplasminogenemia coagulation protein disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009009 MONDO:0021181 False hypoplasminogenemia inherited blood coagulation disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009010 MONDO:0020292 False aortic arch interruption congenital anomaly of the great arteries UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009012 MONDO:0002320 False multiple pterygium-malignant hyperthermia syndrome congenital nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009012 MONDO:0015168 False multiple pterygium-malignant hyperthermia syndrome arthrogryposis multiplex congenita UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0009013 MONDO:0003847 False convulsive disorder, familial, with prenatal or early onset hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009016 MONDO:0002261 False band keratopathy keratopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0009015 MONDO:0002254 False corneal dystrophy-perceptive deafness syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0009015 MONDO:0003847 False corneal dystrophy-perceptive deafness syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0009016 MONDO:0001515 False band keratopathy corneal degeneration UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0009016 MONDO:0018102 False band keratopathy corneal dystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0009017 MONDO:0003847 False corneal degeneration, band-shaped spheroid hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009018 MONDO:0020213 False central cloudy dystrophy of François stromal corneal dystrophy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009018 MONDO:0020214 False central cloudy dystrophy of François posterior corneal dystrophy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009019 MONDO:0000766 False congenital hereditary endothelial dystrophy of cornea corneal endothelial dystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0009019 MONDO:0003847 False congenital hereditary endothelial dystrophy of cornea hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0009019 MONDO:0020214 False congenital hereditary endothelial dystrophy of cornea posterior corneal dystrophy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009020 MONDO:0020213 False macular corneal dystrophy stromal corneal dystrophy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0009020 MONDO:0020242 False macular corneal dystrophy hereditary macular dystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009021 MONDO:0015160 False Toriello-Carey syndrome multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009022 MONDO:0002320 False corpus callosum, agenesis of congenital nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009022 MONDO:0003847 False corpus callosum, agenesis of hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009024 MONDO:0002254 False cortical blindness-intellectual disability-polydactyly syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009024 MONDO:0015159 False cortical blindness-intellectual disability-polydactyly syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009024 MONDO:0024458 False cortical blindness-intellectual disability-polydactyly syndrome disorder of visual system UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009025 MONDO:0005495 False apparent mineralocorticoid excess adrenal gland disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0009025 MONDO:0005523 False apparent mineralocorticoid excess steroid inherited metabolic disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0009025 MONDO:0015905 False apparent mineralocorticoid excess syndromic dyslipidemia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009026 MONDO:0000426 False Costello syndrome autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0009026 MONDO:0015159 False Costello syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009026 MONDO:0020297 False Costello syndrome Noonan syndrome and Noonan-related syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009027 MONDO:0003847 False cramps, familial adolescent hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009028 MONDO:0003847 False Crane-Heise syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009029 MONDO:0003847 False cranial nerves, congenital paresis of hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009030 MONDO:0003847 False cranial nerves, recurrent paresis of hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009031 MONDO:0002185 False craniodiaphyseal dysplasia hyperostosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0009031 MONDO:0015465 False craniodiaphyseal dysplasia craniometaphyseal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS MONDO:0009031 MONDO:0021147 False craniodiaphyseal dysplasia disorder of development or morphogenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009032 MONDO:0011679 False cranioectodermal dysplasia craniosynostosis syndrome, autosomal recessive UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0009032 MONDO:0015338 False cranioectodermal dysplasia syndromic craniosynostosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009032 MONDO:0015461 False cranioectodermal dysplasia short rib-polydactyly syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009032 MONDO:0015962 False cranioectodermal dysplasia inherited renal tubular disease UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009032 MONDO:0019287 False cranioectodermal dysplasia ectodermal dysplasia syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS +MONDO:0009033 MONDO:0003847 False temtamy syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0009033 MONDO:0015159 False temtamy syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009034 MONDO:0021147 False craniofacial dyssynostosis disorder of development or morphogenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009035 MONDO:0006025 False craniometaphyseal dysplasia, autosomal recessive autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0009036 MONDO:0015159 False cardiocranial syndrome, Pfeiffer type multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009036 MONDO:0015338 False cardiocranial syndrome, Pfeiffer type syndromic craniosynostosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009037 MONDO:0003847 False craniosynostosis with anomalies of the cranial base and digits hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009038 MONDO:0015338 False craniosynostosis-fibular aplasia syndrome syndromic craniosynostosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009039 MONDO:0015338 False Baller-Gerold syndrome syndromic craniosynostosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009040 MONDO:0003847 False craniosynostosis-intellectual disability syndrome of 51N and Gettig hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009041 MONDO:0003847 False craniosynostosis-intellectual disability-clefting syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009044 MONDO:0002254 False Crigler-Najjar syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0009042 MONDO:0015338 False craniotelencephalic dysplasia syndromic craniosynostosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009042 MONDO:0018838 False craniotelencephalic dysplasia lissencephaly spectrum disorders UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0009045 MONDO:0002254 False cataract-nephropathy-encephalopathy syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009047 MONDO:0003150 False cryptorchidism male reproductive system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0009046 MONDO:0006025 False Fraser syndrome autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0009046 MONDO:0015161 False Fraser syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009046 MONDO:0020153 False Fraser syndrome cryptophthalmia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0009047 MONDO:0003847 False cryptorchidism hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0009048 MONDO:0003847 False curved nail of fourth toe hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009049 MONDO:0020529 False Cushing syndrome due to macronodular adrenal hyperplasia ACTH-independent Cushing syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009050 MONDO:0003429 False Cushing disease due to pituitary adenoma functioning pituitary gland adenoma UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0009050 MONDO:0020528 False Cushing disease due to pituitary adenoma ACTH-dependent Cushing syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0009050 MONDO:0021227 False Cushing disease due to pituitary adenoma adrenal gland neoplasm UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009050 MONDO:0700245 False Cushing disease due to pituitary adenoma syndromic disorder of cell proliferation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009051 MONDO:0005265 False cutaneous photosensitivity-lethal colitis syndrome inflammatory bowel disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0009052 MONDO:0019572 False cutis laxa, autosomal recessive, type 1A autosomal recessive cutis laxa type 1 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0009053 MONDO:0015327 False ALDH18A1-related de Barsy syndrome developmental anomaly of metabolic origin UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009053 MONDO:0017569 False ALDH18A1-related de Barsy syndrome de Barsy syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0009053 MONDO:0100126 False ALDH18A1-related de Barsy syndrome P5CS deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009054 MONDO:0100237 False autosomal recessive cutis laxa type 2, classic type inherited cutis laxa UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009055 MONDO:0016231 False cutis marmorata telangiectatica congenita capillary malformation UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009055 MONDO:0019293 False cutis marmorata telangiectatica congenita skin vascular disease UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009056 MONDO:0003847 False cutis verticis gyrata and intellectual disability hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009057 MONDO:0003847 False cyanosis and hepatic disease hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009058 MONDO:0004736 False cystathioninuria inborn disorder of amino acid metabolism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0009058 MONDO:0019222 False cystathioninuria inborn disorder of methionine cycle and sulfur amino acid metabolism UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009059 MONDO:0003847 False cysteine Peptiduria hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009060 MONDO:0003847 False cystic disease of lung hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009061 MONDO:0005087 False cystic fibrosis respiratory system disorder UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0009061 MONDO:0006025 False cystic fibrosis autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0009062 MONDO:0002254 False cystic fibrosis-gastritis-megaloblastic anemia syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009062 MONDO:0003847 False cystic fibrosis-gastritis-megaloblastic anemia syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009063 MONDO:0003847 False ventriculomegaly-cystic kidney disease hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0009064 MONDO:0005328 False ocular cystinosis eye disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009064 MONDO:0016239 False ocular cystinosis cystinosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009064 MONDO:0019216 False ocular cystinosis inborn disorder of amino acid transport UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009066 MONDO:0019216 False juvenile nephropathic cystinosis inborn disorder of amino acid transport UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009066 MONDO:0100151 False juvenile nephropathic cystinosis nephropathic cystinosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0009067 MONDO:0002254 False cystinuria syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0009067 MONDO:0015962 False cystinuria inherited renal tubular disease UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009067 MONDO:0019216 False cystinuria inborn disorder of amino acid transport UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009068 MONDO:0000066 False cytochrome-c oxidase deficiency disease mitochondrial complex deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009069 MONDO:0002320 False congenital lactic acidosis, Saguenay-Lac-Saint-Jean type congenital nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0009069 MONDO:0009723 False congenital lactic acidosis, Saguenay-Lac-Saint-Jean type Leigh syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS MONDO:0009070 MONDO:0800152 False D-glyceric aciduria disorder of galactose and fructose metabolism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009071 MONDO:0015962 False hereditary renal hypouricemia inherited renal tubular disease UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009072 MONDO:0002427 False Dandy-Walker syndrome cerebellar disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0009072 MONDO:0020134 False Dandy-Walker syndrome cystic malformation of the posterior fossa UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009074 MONDO:0002320 False facial dysmorphism-macrocephaly-myopia-Dandy-Walker malformation syndrome congenital nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009074 MONDO:0015159 False facial dysmorphism-macrocephaly-myopia-Dandy-Walker malformation syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009074 MONDO:0020022 False facial dysmorphism-macrocephaly-myopia-Dandy-Walker malformation syndrome central nervous system malformation UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009075 MONDO:0020022 False Dandy-Walker malformation-postaxial polydactyly syndrome central nervous system malformation UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009077 MONDO:0003847 False deafness, congenital, and familial myoclonic epilepsy hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009079 MONDO:0002254 False DOORS syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0009079 MONDO:0003847 False DOORS syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0009080 MONDO:0015161 False split hand-foot malformation 1 with sensorineural hearing loss multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009080 MONDO:0018230 False split hand-foot malformation 1 with sensorineural hearing loss skeletal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009080 MONDO:0018234 False split hand-foot malformation 1 with sensorineural hearing loss dysostosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0009080 MONDO:0019054 False split hand-foot malformation 1 with sensorineural hearing loss congenital limb malformation UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009081 MONDO:0019290 False deafness, congenital, with total albinism hypopigmentation of the skin UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009081 MONDO:0100118 False deafness, congenital, with total albinism hereditary skin disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009082 MONDO:0002254 False high myopia-sensorineural deafness syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0009082 MONDO:0003847 False high myopia-sensorineural deafness syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0009083 MONDO:0003847 False conductive deafness-malformed external ear syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009084 MONDO:0019287 False conductive deafness-ptosis-skeletal anomalies syndrome ectodermal dysplasia syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0009085 MONDO:0003847 False deafness-vitiligo-achalasia syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009086 MONDO:0003847 False deafness-small bowel diverticulosis-neuropathy syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009087 MONDO:0003847 False deafness, neural, congenital moderate hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009088 MONDO:0003847 False deafness, neural, with atypical atopic dermatitis hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009089 MONDO:0021147 False deafness-oligodontia syndrome disorder of development or morphogenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009090 MONDO:0010779 False hearing loss, sensorineural, autosomal-mitochondrial type mitochondrial non-syndromic sensorineural hearing loss UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS +MONDO:0009091 MONDO:0018762 False non-acquired combined pituitary hormone deficiency with spine abnormalities non-acquired combined pituitary hormone deficiency UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009092 MONDO:0006025 False polycystic lipomembranous osteodysplasia with sclerosing leukoencephaly autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0009092 MONDO:0019046 False polycystic lipomembranous osteodysplasia with sclerosing leukoencephaly leukodystrophy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS MONDO:0009092 MONDO:0019707 False polycystic lipomembranous osteodysplasia with sclerosing leukoencephaly primary osteolysis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009093 MONDO:0019046 False dermatoleukodystrophy leukodystrophy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0009094 MONDO:0002254 False dermochondrocorneal dystrophy syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009094 MONDO:0021154 False dermochondrocorneal dystrophy dermis disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009095 MONDO:0019287 False dermatoosteolysis, Kirghizian type ectodermal dysplasia syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0009097 MONDO:0006025 False persistent hyperplastic primary vitreous, autosomal recessive autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009098 MONDO:0003847 False dextrocardia with unusual facies and microphthalmia hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009099 MONDO:0002254 False nephrogenic diabetes insipidus-intracranial calcification syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009099 MONDO:0015962 False nephrogenic diabetes insipidus-intracranial calcification syndrome inherited renal tubular disease UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009101 MONDO:0003847 False Wolfram syndrome 1 hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0009101 MONDO:0018105 False Wolfram syndrome 1 Wolfram syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0009102 MONDO:0003847 False diaminopentanuria hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009103 MONDO:0005711 False diaphragmatic hernia 2 congenital diaphragmatic hernia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0009104 MONDO:0006025 False Donnai-Barrow syndrome autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0009104 MONDO:0015160 False Donnai-Barrow syndrome multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009105 MONDO:0002254 False trichohepatoenteric syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0009105 MONDO:0003778 False trichohepatoenteric syndrome inborn error of immunity UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0009105 MONDO:0005020 False trichohepatoenteric syndrome intestinal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0009106 MONDO:0002320 False diastematomyelia congenital nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009106 MONDO:0018075 False diastematomyelia neural tube defect UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009107 MONDO:0000226 False diastrophic dysplasia mineral metabolism disease UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009107 MONDO:0005516 False diastrophic dysplasia osteochondrodysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0009107 MONDO:0019052 False diastrophic dysplasia inborn errors of metabolism UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0009108 MONDO:0019216 False hyperdibasic aminoaciduria type 1 inborn disorder of amino acid transport UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009109 MONDO:0019216 False lysinuric protein intolerance inborn disorder of amino acid transport UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009110 MONDO:0019216 False dicarboxylic aminoaciduria inborn disorder of amino acid transport UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009111 MONDO:0019238 False dihydropyrimidinuria inborn disorder of pyrimidine metabolism UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0009112 MONDO:0100273 False rhizomelic chondrodysplasia punctata type 2 glyceronephosphate O-acyltransferase deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009113 MONDO:0003689 False hemolytic anemia due to diphosphoglycerate mutase deficiency familial hemolytic anemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0009113 MONDO:0020585 False hemolytic anemia due to diphosphoglycerate mutase deficiency anemia due to erythrocyte enzyme disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009114 MONDO:0004905 False congenital sucrase-isomaltase deficiency intestinal disaccharidase deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0009114 MONDO:0017706 False congenital sucrase-isomaltase deficiency disorder of carbohydrate transmembrane transport and absorption UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009115 MONDO:0017706 False congenital lactase deficiency disorder of carbohydrate transmembrane transport and absorption UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009118 MONDO:0003847 False disseminated sclerosis with narcolepsy hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009119 MONDO:0004335 False diverticulosis, small-intestinal digestive system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009120 MONDO:0002254 False diverticulosis of bowel, hernia, and retinal detachment syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009120 MONDO:0004335 False diverticulosis of bowel, hernia, and retinal detachment digestive system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009121 MONDO:0015161 False von Voss-Cherstvoy syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009122 MONDO:0003847 False Dohle bodies and leukemia hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009123 MONDO:0017759 False orthostatic hypotension 1 disorder of catecholamine synthesis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009124 MONDO:0015159 False Dubowitz syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009124 MONDO:0019287 False Dubowitz syndrome ectodermal dysplasia syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS MONDO:0009126 MONDO:0021147 False duodenal atresia disorder of development or morphogenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009127 MONDO:0003847 False dwarfism, low-birth-weight type, with unresponsiveness to growth hormone hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009128 MONDO:0003847 False dwarfism, intellectual disability, and eye abnormality hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009129 MONDO:0003847 False dwarfism, proportionate, with hip dislocation hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009130 MONDO:0002254 False Dyggve-Melchior-Clausen disease syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0009130 MONDO:0016761 False Dyggve-Melchior-Clausen disease spondyloepiphyseal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0009131 MONDO:0003847 False Riley-Day syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0009131 MONDO:0021635 False Riley-Day syndrome neurocristopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009132 MONDO:0003847 False dysautonomia-like disorder hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009133 MONDO:0020043 False cerebellar ataxia, intellectual disability, and dysequilibrium autosomal recessive congenital cerebellar ataxia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009134 MONDO:0000577 False congenital dyserythropoietic anemia type 2 congenital anemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009134 MONDO:0017749 False congenital dyserythropoietic anemia type 2 disorder of multiple glycosylation UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009135 MONDO:0020337 False anemia, congenital dyserythropoietic, type 1a congenital dyserythropoietic anemia type 1 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0009137 MONDO:0003847 False dysmyelination with jaundice hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009138 MONDO:0017198 False dysosteosclerosis osteopetrosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009139 MONDO:0016761 False dyssegmental dysplasia, Rolland-Desbuquois type spondyloepiphyseal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009140 MONDO:0016151 False Silverman-Handmaker type dyssegmental dysplasia qualitative or quantitative defects of perlecan UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009140 MONDO:0016761 False Silverman-Handmaker type dyssegmental dysplasia spondyloepiphyseal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0009141 MONDO:0015990 False torsion dystonia 2 focal, segmental or multifocal dystonia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009142 MONDO:0003847 False dystonia with Ringbinden hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009144 MONDO:0020289 False Ebstein anomaly congenital tricuspid malformation UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009145 MONDO:0006025 False SchC6pf-Schulz-Passarge syndrome autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0009145 MONDO:0017666 False SchC6pf-Schulz-Passarge syndrome diffuse palmoplantar keratoderma UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009145 MONDO:0100358 False SchC6pf-Schulz-Passarge syndrome ectodermal dysplasia WNT10A related UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009146 MONDO:0019287 False ectodermal dysplasia-sensorineural deafness syndrome ectodermal dysplasia syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0009147 MONDO:0016619 False ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive autosomal recessive hypohidrotic ectodermal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009148 MONDO:0007124 False Rosselli-Gulienetti syndrome ankyloblepharon-ectodermal defects-cleft lip/palate syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0009149 MONDO:0019287 False ectodermal dysplasia-intellectual disability-central nervous system malformation syndrome ectodermal dysplasia syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0009150 MONDO:0005151 False hypohidrotic ectodermal dysplasia-hypothyroidism-ciliary dyskinesia syndrome endocrine system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009150 MONDO:0019287 False hypohidrotic ectodermal dysplasia-hypothyroidism-ciliary dyskinesia syndrome ectodermal dysplasia syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0009151 MONDO:0006025 False cleft lip/palate-ectodermal dysplasia syndrome autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0009152 MONDO:0003847 False ectopia lentis 2, isolated, autosomal recessive hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0009152 MONDO:0015998 False ectopia lentis 2, isolated, autosomal recessive isolated ectopia lentis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0009153 MONDO:0003847 False ectopia lentis et pupillae hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0009153 MONDO:0015998 False ectopia lentis et pupillae isolated ectopia lentis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0009155 MONDO:0002320 False EEM syndrome congenital nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0009155 MONDO:0018234 False EEM syndrome dysostosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0009155 MONDO:0019054 False EEM syndrome congenital limb malformation UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009155 MONDO:0019287 False EEM syndrome ectodermal dysplasia syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS MONDO:0009155 MONDO:0020242 False EEM syndrome hereditary macular dystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009156 MONDO:0002254 False ectrodactyly-polydactyly syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009156 MONDO:0019054 False ectrodactyly-polydactyly syndrome congenital limb malformation UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009158 MONDO:0000009 False Ehlers-Danlos syndrome, fibronectinemic type inherited bleeding disorder, platelet-type UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0009158 MONDO:0020066 False Ehlers-Danlos syndrome, fibronectinemic type Ehlers-Danlos syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0009158 MONDO:0021181 False Ehlers-Danlos syndrome, fibronectinemic type inherited blood coagulation disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009159 MONDO:0005267 False Ehlers-Danlos syndrome, cardiac valvular type heart disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0009162 MONDO:0005267 False Ellis-van Creveld syndrome heart disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0009162 MONDO:0006025 False Ellis-van Creveld syndrome autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0009162 MONDO:0019287 False Ellis-van Creveld syndrome ectodermal dysplasia syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS MONDO:0009163 MONDO:0003847 False encephalomalacia, multilocular hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009164 MONDO:0100198 False encephalopathy, axonal, with necrotizing myopathy, cardiomyopathy, and cataracts Mendelian encephalopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009167 MONDO:0002254 False Bonnemann-Meinecke-Reich syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009167 MONDO:0015159 False Bonnemann-Meinecke-Reich syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009167 MONDO:0100198 False Bonnemann-Meinecke-Reich syndrome Mendelian encephalopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009168 MONDO:0003847 False Fowler syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0009168 MONDO:0021147 False Fowler syndrome disorder of development or morphogenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009169 MONDO:0000470 False endocardial fibroelastosis endocardium disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0009170 MONDO:0003847 False endocardial fibroelastosis and coarctation of abdominal aorta hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009171 MONDO:0003847 False endothelial dystrophy, congenital hereditary, with nail hypoplasia hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009172 MONDO:0003847 False enterocolitis hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009173 MONDO:0003847 False congenital enteropathy due to enteropeptidase deficiency hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0009173 MONDO:0004335 False congenital enteropathy due to enteropeptidase deficiency digestive system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0009174 MONDO:0003847 False protein-losing enteropathy hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0009175 MONDO:0004830 False eosinophilic fasciitis fasciitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009174 MONDO:0005020 False protein-losing enteropathy intestinal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0009175 MONDO:0020122 False eosinophilic fasciitis acquired idiopathic inflammatory myopathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009176 MONDO:0005046 False epidermodysplasia verruciformis immune system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0009176 MONDO:0100118 False epidermodysplasia verruciformis hereditary skin disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009177 MONDO:0017612 False late-onset localized junctional epidermolysis bullosa-intellectual disability syndrome junctional epidermolysis bullosa UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0009178 MONDO:0006543 False epidermolysis bullosa dystrophica Neurotrophica epidermolysis bullosa dystrophica UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009179 MONDO:0006543 False recessive dystrophic epidermolysis bullosa epidermolysis bullosa dystrophica UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0009181 MONDO:0002254 False epidermolysis bullosa simplex 5B, with muscular dystrophy syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0009181 MONDO:0015152 False epidermolysis bullosa simplex 5B, with muscular dystrophy autosomal recessive limb-girdle muscular dystrophy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS +MONDO:0009181 MONDO:0016198 False epidermolysis bullosa simplex 5B, with muscular dystrophy qualitative or quantitative defects of plectin UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009184 MONDO:0003847 False epidermolysis bullosa with diaphragmatic hernia hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009185 MONDO:0019287 False amelocerebrohypohidrotic syndrome ectodermal dysplasia syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS MONDO:0009186 MONDO:0003847 False epilepsy, photogenic, with spastic diplegia and intellectual disability hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009187 MONDO:0100029 False celiac disease-epilepsy-cerebral calcification syndrome antibody mediated epilepsy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009188 MONDO:0015159 False epilepsy-telangiectasia syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009189 MONDO:0000226 False multiple epiphyseal dysplasia type 4 mineral metabolism disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009189 MONDO:0019052 False multiple epiphyseal dysplasia type 4 inborn errors of metabolism UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0009190 MONDO:0003847 False epiphyseal dysplasia of femoral head, myopia, and deafness hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009191 MONDO:0800063 False Lowry-Wood syndrome primordial dwarfism and slender bone disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009192 MONDO:0006025 False Wolcott-Rallison syndrome autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0009192 MONDO:0016761 False Wolcott-Rallison syndrome spondyloepiphyseal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0009193 MONDO:0003847 False epithelial squamous dysplasia, keratinizing desquamative, of urinary tract hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009194 MONDO:0003847 False immunodeficiency 32B hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0009194 MONDO:0005108 False immunodeficiency 32B viral infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0009194 MONDO:0021674 False immunodeficiency 32B post-viral disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009195 MONDO:0003847 False erythema of acral regions hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009196 MONDO:0002254 False ermine phenotype syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009197 MONDO:0020113 False transient erythroblastopenia of childhood primary acquired red cell aplasia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009198 MONDO:0005093 False congenital lethal erythroderma skin disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009199 MONDO:0003847 False ethanolaminosis hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009200 MONDO:0002254 False eyebrow duplication-syndactyly syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009201 MONDO:0003847 False facial abnormalities, kyphoscoliosis, and intellectual disability hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009202 MONDO:0043009 False Thakker-Donnai syndrome hereditary lethal multiple congenital anomalies/dysmorphic syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009204 MONDO:0003847 False lethal faciocardiomelic dysplasia hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009204 MONDO:0015160 False lethal faciocardiomelic dysplasia multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009204 MONDO:0018234 False lethal faciocardiomelic dysplasia dysostosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009204 MONDO:0019054 False lethal faciocardiomelic dysplasia congenital limb malformation UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009205 MONDO:0015159 False faciocardiorenal syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009206 MONDO:0018175 False factor V and factor VIII, combined deficiency of, type 1 combined deficiency of factor V and factor VIII UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009206 MONDO:0021181 False factor V and factor VIII, combined deficiency of, type 1 inherited blood coagulation disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009207 MONDO:0018175 False factor V and factor VIII, combined deficiency of, with normal protein C and protein C inhibitor combined deficiency of factor V and factor VIII UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009208 MONDO:0003847 False faciothoracogenital syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009209 MONDO:0006025 False autosomal recessive faciodigitogenital syndrome autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009209 MONDO:0015161 False autosomal recessive faciodigitogenital syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009209 MONDO:0021005 False autosomal recessive faciodigitogenital syndrome faciodigitogenital syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009210 MONDO:0002243 False congenital factor V deficiency hemorrhagic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0009210 MONDO:0020586 False congenital factor V deficiency factor V deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009210 MONDO:0021181 False congenital factor V deficiency inherited blood coagulation disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009211 MONDO:0002244 False congenital factor VII deficiency factor VII deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009212 MONDO:0002247 False congenital factor X deficiency factor X deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009211 MONDO:0015722 False congenital factor VII deficiency congenital vitamin K-dependent coagulation factors deficiency UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS +MONDO:0009212 MONDO:0015722 False congenital factor X deficiency congenital vitamin K-dependent coagulation factors deficiency UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS MONDO:0009215 MONDO:0019713 False Fanconi anemia complementation group A non-syndromic limb reduction defect UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009216 MONDO:0002412 False glycogen storage disease due to GLUT2 deficiency disorder of glycogen metabolism UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0009217 MONDO:0002254 False Fanconi-like syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0009217 MONDO:0003847 False Fanconi-like syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0009218 MONDO:0100524 False Farber lipogranulomatosis ASAH1-related sphingolipidosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009218 MONDO:0800460 False Farber lipogranulomatosis ASAH1-related disorders UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009219 MONDO:0008492 False fascial dystrophy, congenital stiff skin syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0009220 MONDO:0004790 False visceral steatosis, congenital fatty liver disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009221 MONDO:0018234 False femur-fibula-ulna complex dysostosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009221 MONDO:0019054 False femur-fibula-ulna complex congenital limb malformation UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009221 MONDO:0019713 False femur-fibula-ulna complex non-syndromic limb reduction defect UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009222 MONDO:0018234 False Gollop-Wolfgang complex dysostosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009222 MONDO:0019054 False Gollop-Wolfgang complex congenital limb malformation UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009222 MONDO:0019713 False Gollop-Wolfgang complex non-syndromic limb reduction defect UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009223 MONDO:0019155 False hypogonadotropic hypogonadism 23 with or without anosmia Leydig cell hypoplasia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0009224 MONDO:0016555 False fetal iodine syndrome transient congenital hypothyroidism due to maternal factor UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009224 MONDO:0016677 False fetal iodine syndrome toxic or drug-related embryofetopathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009225 MONDO:0003847 False fever, familial lifelong persistent hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009228 MONDO:0002254 False gingival fibromatosis-facial dysmorphism syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009228 MONDO:0015161 False gingival fibromatosis-facial dysmorphism syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009229 MONDO:0019707 False hyaline fibromatosis syndrome primary osteolysis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009230 MONDO:0003847 False fibrosclerosis, multifocal hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009230 MONDO:0018848 False fibrosclerosis, multifocal IgG4-related retroperitoneal fibrosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009231 MONDO:0006025 False acromesomelic dysplasia 2B autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0009231 MONDO:0018234 False acromesomelic dysplasia 2B dysostosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0009231 MONDO:0019054 False acromesomelic dysplasia 2B congenital limb malformation UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009232 MONDO:0018234 False Fuhrmann syndrome dysostosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0009232 MONDO:0019054 False Fuhrmann syndrome congenital limb malformation UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009232 MONDO:0019713 False Fuhrmann syndrome non-syndromic limb reduction defect UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009233 MONDO:0015161 False Fibulo-ulnar hypoplasia-renal anomalies syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009234 MONDO:0002242 False congenital high-molecular-weight kininogen deficiency coagulation protein disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009234 MONDO:0002243 False congenital high-molecular-weight kininogen deficiency hemorrhagic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0009234 MONDO:0021181 False congenital high-molecular-weight kininogen deficiency inherited blood coagulation disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009235 MONDO:0019118 False familial benign flecked retina inherited retinal dystrophy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0009236 MONDO:0016420 False Kandori fleck retina familial flecked retinopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009237 MONDO:0003847 False focal epithelial hyperplasia hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0009237 MONDO:0005043 False focal epithelial hyperplasia hyperplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009237 MONDO:0005108 False focal epithelial hyperplasia viral infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0009238 MONDO:0001700 False hereditary folate malabsorption megaloblastic anemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0009238 MONDO:0016624 False hereditary folate malabsorption inherited deficiency anemia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009238 MONDO:0017313 False hereditary folate malabsorption disorder of folate metabolism and transport UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009238 MONDO:0020598 False hereditary folate malabsorption malabsorption syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009240 MONDO:0001700 False formiminoglutamic aciduria megaloblastic anemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0009240 MONDO:0016624 False formiminoglutamic aciduria inherited deficiency anemia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009240 MONDO:0017313 False formiminoglutamic aciduria disorder of folate metabolism and transport UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009241 MONDO:0015159 False fountain syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009242 MONDO:0000942 False brittle cornea syndrome corneal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0009242 MONDO:0006025 False brittle cornea syndrome autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0009242 MONDO:0020066 False brittle cornea syndrome Ehlers-Danlos syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS MONDO:0009242 MONDO:0023603 False brittle cornea syndrome hereditary disorder of connective tissue UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009243 MONDO:0003847 False Fraser-like syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009244 MONDO:0003847 False Freesia Flowers, inability to smell hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009246 MONDO:0003847 False Friedreich ataxia and congenital glaucoma hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009247 MONDO:0002254 False frontofacionasal dysplasia syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009247 MONDO:0015161 False frontofacionasal dysplasia multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009247 MONDO:0016643 False frontofacionasal dysplasia frontonasal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0009248 MONDO:0003847 False fructose and galactose intolerance hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009249 MONDO:0017689 False hereditary fructose intolerance disorder of fructose metabolism UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009249 MONDO:0800152 False hereditary fructose intolerance disorder of galactose and fructose metabolism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009251 MONDO:0019225 False fructose-1,6-bisphosphatase deficiency disorder of gluconeogenesis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009252 MONDO:0017689 False essential fructosuria disorder of fructose metabolism UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009252 MONDO:0800152 False essential fructosuria disorder of galactose and fructose metabolism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009253 MONDO:0002254 False Fryns syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009253 MONDO:0015159 False Fryns syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009254 MONDO:0019251 False fucosidosis oligosaccharidosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009254 MONDO:0800088 False fucosidosis lysosomal storage disease with skeletal involvement UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009255 MONDO:0800152 False galactokinase deficiency disorder of galactose and fructose metabolism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009256 MONDO:0003847 False galactorrhea hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009258 MONDO:0019852 False classic galactosemia inherited primary ovarian failure UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0009258 MONDO:0800152 False classic galactosemia disorder of galactose and fructose metabolism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009259 MONDO:0040566 False gamma-glutamylcysteine synthetase deficiency inherited glutathione metabolism disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009260 MONDO:0015905 False GM1 gangliosidosis type 1 syndromic dyslipidemia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009260 MONDO:0018149 False GM1 gangliosidosis type 1 GM1 gangliosidosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0009260 MONDO:0800088 False GM1 gangliosidosis type 1 lysosomal storage disease with skeletal involvement UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009261 MONDO:0018149 False GM1 gangliosidosis type 2 GM1 gangliosidosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0009262 MONDO:0018149 False GM1 gangliosidosis type 3 GM1 gangliosidosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0009263 MONDO:0015159 False GAPO syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009263 MONDO:0019287 False GAPO syndrome ectodermal dysplasia syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS MONDO:0009264 MONDO:0100298 False gastroschisis abdominal wall malformation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009265 MONDO:0016340 False Gaucher disease type I familial restrictive cardiomyopathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0009265 MONDO:0018150 False Gaucher disease type I Gaucher disease UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0009265 MONDO:0018374 False Gaucher disease type I secondary avascular necrosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009265 MONDO:0018383 False Gaucher disease type I osteonecrosis of genetic origin UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009265 MONDO:0020143 False Gaucher disease type I cerebral lipidosis with dementia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0009266 MONDO:0018150 False Gaucher disease type II Gaucher disease UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0009267 MONDO:0018150 False Gaucher disease type III Gaucher disease UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0009268 MONDO:0018150 False Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome Gaucher disease UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0009270 MONDO:0005151 False genito-palato-cardiac syndrome endocrine system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009270 MONDO:0015161 False genito-palato-cardiac syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009271 MONDO:0100237 False geroderma osteodysplastica inherited cutis laxa UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0009271 MONDO:0800064 False geroderma osteodysplastica osteogenesis imperfecta and a reduction of bone mineral density. UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009272 MONDO:0002254 False German syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009272 MONDO:0016009 False German syndrome fetal trimethadione syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009272 MONDO:0019175 False German syndrome primary lymphedema UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009273 MONDO:0016785 False hydatidiform mole, recurrent, 1 complete hydatidiform mole UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009273 MONDO:0018944 False hydatidiform mole, recurrent, 1 gestational trophoblastic neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009274 MONDO:0018230 False ghosal hematodiaphyseal dysplasia skeletal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009275 MONDO:0006507 False neonatal hemochromatosis hereditary hemochromatosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING -MONDO:0009276 MONDO:0002254 False Bernard-Soulier syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0009277 MONDO:0020366 False glaucoma 3A congenital glaucoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009277 MONDO:0800472 False glaucoma 3A CYP1B1-related glaucoma with or without anterior segment dysgenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009279 MONDO:0002254 False triple-A syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0009279 MONDO:0006025 False triple-A syndrome autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0009279 MONDO:0015129 False triple-A syndrome chronic primary adrenal insufficiency UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS MONDO:0009280 MONDO:0003847 False monosodium glutamate sensitivity hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009281 MONDO:0000129 False glutaryl-CoA dehydrogenase deficiency glutaric aciduria UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009281 MONDO:0000688 False glutaryl-CoA dehydrogenase deficiency inborn organic aciduria UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0009281 MONDO:0005071 False glutaryl-CoA dehydrogenase deficiency nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0009282 MONDO:0000129 False multiple acyl-CoA dehydrogenase deficiency glutaric aciduria UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009282 MONDO:0004069 False multiple acyl-CoA dehydrogenase deficiency inborn mitochondrial metabolism disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0009282 MONDO:0017714 False multiple acyl-CoA dehydrogenase deficiency acyl-CoA dehydrogenase deficiency UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009282 MONDO:0024573 False multiple acyl-CoA dehydrogenase deficiency familial hypertrophic cardiomyopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS MONDO:0009283 MONDO:0000129 False glutaric acidemia type 3 glutaric aciduria UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009283 MONDO:0000688 False glutaric acidemia type 3 inborn organic aciduria UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0009284 MONDO:0017909 False glutathione synthetase deficiency without 5-oxoprolinuria inherited glutathione synthetase deficiency UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0009285 MONDO:0040566 False gamma-glutamyl transpeptidase deficiency inherited glutathione metabolism disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009286 MONDO:0003847 False gluteal muscles, absence of hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009287 MONDO:0002413 False glycogen storage disease due to glucose-6-phosphatase deficiency type IA glycogen storage disease I UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0009288 MONDO:0015134 False glycogen storage disease Ib constitutional neutropenia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009288 MONDO:0023258 False glycogen storage disease Ib glycogen storage disease type 1 due to SLC37A4 mutation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009290 MONDO:0016340 False glycogen storage disease II familial restrictive cardiomyopathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0009290 MONDO:0017738 False glycogen storage disease II lysosomal glycogen storage disease UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009295 MONDO:0003689 False glycogen storage disease VII familial hemolytic anemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0009295 MONDO:0017688 False glycogen storage disease VII disorder of glycolysis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009295 MONDO:0020585 False glycogen storage disease VII anemia due to erythrocyte enzyme disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009296 MONDO:0002561 False glycoprotein storage disease lysosomal storage disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009297 MONDO:0006510 False familial renal glucosuria renal tubular transport disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0009297 MONDO:0019226 False familial renal glucosuria glucose transport disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009297 MONDO:0100191 False familial renal glucosuria inherited kidney disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009298 MONDO:0003847 False GOMBO syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009299 MONDO:0019852 False 46 XX gonadal dysgenesis inherited primary ovarian failure UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0009302 MONDO:0020040 False XY type gonadal dysgenesis-associated anomalies syndrome 46,XY disorder of sex development UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009305 MONDO:0003847 False granulocytopenia with immunoglobulin abnormality hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0009306 MONDO:0017855 False combined immunodeficiency with skin granulomas T-B- severe combined immunodeficiency UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009306 MONDO:0100118 False combined immunodeficiency with skin granulomas hereditary skin disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009307 MONDO:0018305 False granulomatous disease with defect in neutrophil chemotaxis chronic granulomatous disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009311 MONDO:0003847 False grouped pigmentation of the retina hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009312 MONDO:0020087 False lipodystrophy due to peptidic growth factors deficiency hereditary lipodystrophy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009313 MONDO:0002254 False Grubben-de Cock-Borghgraef syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009315 MONDO:0002242 False congenital factor XII deficiency coagulation protein disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009315 MONDO:0000429 False congenital factor XII deficiency autosomal genetic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0009315 MONDO:0002243 False congenital factor XII deficiency hemorrhagic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0009315 MONDO:0009332 False congenital factor XII deficiency congenital hematological disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009315 MONDO:0021181 False congenital factor XII deficiency inherited blood coagulation disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009318 MONDO:0019303 False Hallermann-Streiff syndrome premature aging syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009318 MONDO:0800063 False Hallermann-Streiff syndrome primordial dwarfism and slender bone disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009319 MONDO:0016987 False pantothenate kinase-associated neurodegeneration neuroacanthocytosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0009319 MONDO:0018117 False pantothenate kinase-associated neurodegeneration disorder of phospholipids, sphingolipids and fatty acids biosynthesis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009320 MONDO:0015159 False Hall-Riggs syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009321 MONDO:0019054 False hallux varus-preaxial polysyndactyly syndrome congenital limb malformation UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009323 MONDO:0003847 False Halothane hepatitis hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009324 MONDO:0019216 False Hartnup disease inborn disorder of amino acid transport UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009326 MONDO:0000465 False congenital heart block atrioventricular block UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0009327 MONDO:0003847 False heart, malformation of hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009327 MONDO:0019512 False heart, malformation of congenital heart malformation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009328 MONDO:0003847 False hemangiomatosis, cutaneous, with associated features hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009330 MONDO:0016238 False hemangiopericytoma, malignant solitary fibrous tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009332 MONDO:0005570 False congenital hematological disorder hematologic disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009331 MONDO:0019716 False isolated hemihyperplasia overgrowth syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009333 MONDO:0002254 False mullerian derivatives-lymphangiectasia-polydactyly syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009333 MONDO:0019175 False mullerian derivatives-lymphangiectasia-polydactyly syndrome primary lymphedema UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009334 MONDO:0017319 False hemolytic anemia with thermal sensitivity of red cells hereditary elliptocytosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009335 MONDO:0020573 False hemolytic uremic syndrome, atypical, susceptibility to, 1 inherited disease susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009336 MONDO:0008346 False hemosiderosis, pulmonary, with deficiency of gamma-a globulin pulmonary hemosiderosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0009338 MONDO:0003778 False hepatic veno-occlusive disease-immunodeficiency syndrome inborn error of immunity UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0009338 MONDO:0019514 False hepatic veno-occlusive disease-immunodeficiency syndrome hepatic veno-occlusive disease UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0009340 MONDO:0003689 False non-spherocytic hemolytic anemia due to hexokinase deficiency familial hemolytic anemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009340 MONDO:0017688 False non-spherocytic hemolytic anemia due to hexokinase deficiency disorder of glycolysis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009340 MONDO:0020585 False non-spherocytic hemolytic anemia due to hexokinase deficiency anemia due to erythrocyte enzyme disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009341 MONDO:0000508 False Mowat-Wilson syndrome syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0009341 MONDO:0002320 False Mowat-Wilson syndrome congenital nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0009341 MONDO:0015159 False Mowat-Wilson syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009341 MONDO:0015653 False Mowat-Wilson syndrome monogenic epilepsy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009342 MONDO:0002254 False Hirschsprung disease-hearing loss-polydactyly syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009342 MONDO:0015161 False Hirschsprung disease-hearing loss-polydactyly syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009342 MONDO:0021189 False Hirschsprung disease-hearing loss-polydactyly syndrome intestinal motility disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009343 MONDO:0003847 False Hirschsprung disease with ulnar polydactyly, polysyndactyly of big toes, and ventricular septal defect hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009344 MONDO:0002254 False Hirschsprung disease-nail hypoplasia-dysmorphism syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009344 MONDO:0021189 False Hirschsprung disease-nail hypoplasia-dysmorphism syndrome intestinal motility disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009345 MONDO:0019228 False histidinemia inborn disorder of histidine metabolism UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0009346 MONDO:0009345 False histidinuria due to a renal tubular defect histidinemia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0009346 MONDO:0019216 False histidinuria due to a renal tubular defect inborn disorder of amino acid transport UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009347 MONDO:0003847 False familial lipochrome histiocytosis hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009347 MONDO:0024627 False familial lipochrome histiocytosis phagocytic cell dysfunction UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009350 MONDO:0002254 False Holzgreve-Wagner-Rehder syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0009350 MONDO:0015161 False Holzgreve-Wagner-Rehder syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009351 MONDO:0000698 False homocarnosinosis gamma-amino butyric acid metabolism disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0009351 MONDO:0019232 False homocarnosinosis inborn disorder of peptide metabolism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009352 MONDO:0001176 False classic homocystinuria lens disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009352 MONDO:0004737 False classic homocystinuria homocystinuria UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009352 MONDO:0015327 False classic homocystinuria developmental anomaly of metabolic origin UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009353 MONDO:0004737 False homocystinuria due to methylene tetrahydrofolate reductase deficiency homocystinuria UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009353 MONDO:0017313 False homocystinuria due to methylene tetrahydrofolate reductase deficiency disorder of folate metabolism and transport UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009353 MONDO:0020127 False homocystinuria due to methylene tetrahydrofolate reductase deficiency hereditary peripheral neuropathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009354 MONDO:0018964 False methylcobalamin deficiency type cblE homocystinuria without methylmalonic aciduria UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009355 MONDO:0003847 False Hooft disease hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009356 MONDO:0006025 False autosomal recessive humeroradial synostosis autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009356 MONDO:0007737 False autosomal recessive humeroradial synostosis humeroradial synostosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0009357 MONDO:0007737 False humeroradial synostosis with craniofacial anomalies humeroradial synostosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0009358 MONDO:0003847 False Hutterite cerebroosteonephrodysplasia syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009359 MONDO:0002254 False multinucleated neurons-anhydramnios-renal dysplasia-cerebellar hypoplasia-hydranencephaly syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0009359 MONDO:0006025 False multinucleated neurons-anhydramnios-renal dysplasia-cerebellar hypoplasia-hydranencephaly syndrome autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0009359 MONDO:0043009 False multinucleated neurons-anhydramnios-renal dysplasia-cerebellar hypoplasia-hydranencephaly syndrome hereditary lethal multiple congenital anomalies/dysmorphic syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009360 MONDO:0006025 False hydrocephalus, nonsyndromic, autosomal recessive 1 autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009361 MONDO:0006025 False autosomal recessive hydrocephalus due to congenital stenosis of aqueduct of Sylvius autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009361 MONDO:0016349 False autosomal recessive hydrocephalus due to congenital stenosis of aqueduct of Sylvius congenital hydrocephalus UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0009362 MONDO:0002254 False growth delay-hydrocephaly-lung hypoplasia syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009362 MONDO:0005087 False growth delay-hydrocephaly-lung hypoplasia syndrome respiratory system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009363 MONDO:0015161 False hydrocephaly-tall stature-joint laxity syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009364 MONDO:0018939 False muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 muscle-eye-brain disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009364 MONDO:0700070 False muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 myopathy caused by variation in POMT1 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009366 MONDO:0002045 False normal pressure hydrocephalus communicating hydrocephalus UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0009367 MONDO:0003847 False McKusick-Kaufman syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0009367 MONDO:0015161 False McKusick-Kaufman syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009370 MONDO:0016001 False L-2-hydroxyglutaric aciduria 2-hydroxyglutaric aciduria UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0009371 MONDO:0019215 False 3-hydroxyisobutyric aciduria classic organic aciduria UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009371 MONDO:0019242 False 3-hydroxyisobutyric aciduria inborn disorder of branched-chain amino acid metabolism UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009371 MONDO:0037870 False 3-hydroxyisobutyric aciduria valine metabolism disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009372 MONDO:0017350 False encephalopathy due to hydroxykynureninuria inborn disorder of tryptophan metabolism UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009373 MONDO:0017351 False seizures-intellectual disability due to hydroxylysinuria syndrome inborn disorder of lysine and hydroxylysine metabolism UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009374 MONDO:0003847 False hydroxyprolinemia hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009375 MONDO:0003847 False hymen, imperforate hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009376 MONDO:0800153 False carbamoyl phosphate synthetase I deficiency disease urea cycle disorder or inherited hyperammonemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009377 MONDO:0800153 False hyperammonemia due to N-acetylglutamate synthase deficiency urea cycle disorder or inherited hyperammonemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009380 MONDO:0002254 False Dubin-Johnson syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0009378 MONDO:0019238 False hyper-beta-alaninemia inborn disorder of pyrimidine metabolism UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009381 MONDO:0002408 False hyperbilirubinemia, conjugated, type 3 hereditary hyperbilirubinemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0009382 MONDO:0002408 False hyperbilirubinemia, shunt, primary hereditary hyperbilirubinemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0009383 MONDO:0005154 False transient familial neonatal hyperbilirubinemia liver disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -23408,78 +18286,112 @@ MONDO:0009384 MONDO:0019155 False Leydig cell hypoplasia, type 1 Leydig cell hyp MONDO:0009385 MONDO:0003847 False hyperleucine-Isoleucinemia hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009386 MONDO:0001697 False hyperlexia reading disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009386 MONDO:0003847 False hyperlexia hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009387 MONDO:0001336 False familial lipoprotein lipase deficiency familial hyperlipidemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0009387 MONDO:0015905 False familial lipoprotein lipase deficiency syndromic dyslipidemia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009387 MONDO:0037748 False familial lipoprotein lipase deficiency hyperlipoproteinemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009387 MONDO:0018637 False familial lipoprotein lipase deficiency familial chylomicronemia syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0009388 MONDO:0004736 False hyperlysinemia inborn disorder of amino acid metabolism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0009388 MONDO:0017351 False hyperlysinemia inborn disorder of lysine and hydroxylysine metabolism UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009389 MONDO:0009388 False hyperlysinemia due to defect in lysine transport into mitochondria hyperlysinemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0009390 MONDO:0003847 False hyperlysinuria with hyperammonemia hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009391 MONDO:0003847 False hypermetabolism due to defect in mitochondria hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009392 MONDO:0003847 False hyperopia, high hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009393 MONDO:0002254 False ornithine translocase deficiency syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0009393 MONDO:0800153 False ornithine translocase deficiency urea cycle disorder or inherited hyperammonemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009395 MONDO:0018230 False hyperostosis corticalis generalisata skeletal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009396 MONDO:0003847 False hyperparathyroidism, neonatal self-limited primary, with hypercalciuria hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009397 MONDO:0016365 False neonatal severe primary hyperparathyroidism familial primary hyperparathyroidism UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009397 MONDO:0019060 False neonatal severe primary hyperparathyroidism bone neoplasm UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009397 MONDO:0023603 False neonatal severe primary hyperparathyroidism hereditary disorder of connective tissue UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009397 MONDO:0800096 False neonatal severe primary hyperparathyroidism abnormal mineralization disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009399 MONDO:0003847 False hyperphosphatemia, polyuria, and seizures hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009400 MONDO:0023419 False hyperprolinemia type 1 hyperprolinemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0009401 MONDO:0023419 False hyperprolinemia type 2 hyperprolinemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0009402 MONDO:0002254 False acrofrontofacionasal dysostosis 2 syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009402 MONDO:0008715 False acrofrontofacionasal dysostosis 2 acrofrontofacionasal dysostosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009402 MONDO:0015161 False acrofrontofacionasal dysostosis 2 multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009403 MONDO:0003847 False hypertelorism and tetralogy of fallot hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009404 MONDO:0006025 False hypertelorism, microtia, facial clefting syndrome autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0009404 MONDO:0015159 False hypertelorism, microtia, facial clefting syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009405 MONDO:0019280 False cervical hypertrichosis-peripheral neuropathy syndrome hypertrichosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009405 MONDO:0020022 False cervical hypertrichosis-peripheral neuropathy syndrome central nervous system malformation UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009406 MONDO:0002254 False hypertrichotic osteochondrodysplasia Cantu type syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0009406 MONDO:0003847 False hypertrichotic osteochondrodysplasia Cantu type hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0009406 MONDO:0005516 False hypertrichotic osteochondrodysplasia Cantu type osteochondrodysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0009406 MONDO:0015160 False hypertrichotic osteochondrodysplasia Cantu type multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009407 MONDO:0003847 False hypertrophic neuropathy and cataract hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009408 MONDO:0003847 False hyperuricemia, infantile, with abnormal behavior and normal hypoxanthine guanine phosphoribosyltransferase hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009409 MONDO:0020573 False hypervitaminosis a, susceptibility to inherited disease susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009411 MONDO:0005495 False autoimmune polyendocrine syndrome type 1 adrenal gland disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0009411 MONDO:0016165 False autoimmune polyendocrine syndrome type 1 hereditary hypoparathyroidism UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009411 MONDO:0018242 False autoimmune polyendocrine syndrome type 1 autoimmune hypoparathyroidism UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009412 MONDO:0024298 False scurvy vitamin deficiency disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009412 MONDO:0037792 False scurvy carbohydrate metabolism disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009412 MONDO:0045022 False scurvy disorder of organic acid metabolism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009414 MONDO:0002412 False glycogen storage disorder due to hepatic glycogen synthase deficiency disorder of glycogen metabolism UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0009415 MONDO:0003847 False hypoglycemia, leucine-induced hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0009416 MONDO:0003847 False hypoinsulinemic hypoglycemia and body hemihypertrophy hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0009416 MONDO:0005151 False hypoinsulinemic hypoglycemia and body hemihypertrophy endocrine system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0009416 MONDO:0019716 False hypoinsulinemic hypoglycemia and body hemihypertrophy overgrowth syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009417 MONDO:0002254 False hypergonadotropic hypogonadism-cataract syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009418 MONDO:0003847 False hypogonadism with low-grade mental deficiency and microcephaly hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009419 MONDO:0015770 False Woodhouse-Sakati syndrome congenital hypogonadotropic hypogonadism UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009419 MONDO:0018307 False Woodhouse-Sakati syndrome neurodegeneration with brain iron accumulation UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS +MONDO:0009419 MONDO:0044807 False Woodhouse-Sakati syndrome inherited dystonia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0009420 MONDO:0002254 False primary hypergonadotropic hypogonadism-partial alopecia syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009421 MONDO:0002146 False hypogonadism, male hypogonadism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009421 MONDO:0003847 False hypogonadism, male hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009422 MONDO:0003847 False hypohidrosis with abnormal palmar dermal Ridges hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009423 MONDO:0003847 False hypokalemic alkalosis, familial, with specific renal tubulopathy hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009425 MONDO:0015160 False hypomandibular faciocranial dysostosis multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009426 MONDO:0006025 False hypoparathyroidism-retardation-dysmorphism syndrome autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0009426 MONDO:0015159 False hypoparathyroidism-retardation-dysmorphism syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009426 MONDO:0800063 False hypoparathyroidism-retardation-dysmorphism syndrome primordial dwarfism and slender bone disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009429 MONDO:0003847 False hypophosphatemia, renal, with intracerebral calcifications hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009430 MONDO:0017324 False hypophosphatemic rickets, autosomal recessive, 1 autosomal recessive hypophosphatemic rickets UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009430 MONDO:0800096 False hypophosphatemic rickets, autosomal recessive, 1 abnormal mineralization disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009431 MONDO:0000044 False hereditary hypophosphatemic rickets with hypercalciuria hereditary hypophosphatemic rickets UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0009431 MONDO:0800096 False hereditary hypophosphatemic rickets with hypercalciuria abnormal mineralization disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009432 MONDO:0003847 False hypopituitarism, congenital, with central diabetes insipidus hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009435 MONDO:0002254 False hypospadias-intellectual disability, Goldblatt type syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009435 MONDO:0015159 False hypospadias-intellectual disability, Goldblatt type syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009436 MONDO:0007804 False congenital hypothalamic hamartoma syndrome Pallister-Hall syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0009437 MONDO:0002254 False Bamforth-Lazarus syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0009437 MONDO:0003847 False Bamforth-Lazarus syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0009437 MONDO:0005151 False Bamforth-Lazarus syndrome endocrine system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0009438 MONDO:0009071 False hypouricemia, hypercalcinuria, and decreased bone density hereditary renal hypouricemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009439 MONDO:0017267 False autosomal recessive congenital ichthyosis 2 self-healing collodion baby UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009439 MONDO:0019306 False autosomal recessive congenital ichthyosis 2 congenital non-bullous ichthyosiform erythroderma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009442 MONDO:0003847 False ichthyosis congenita with biliary atresia hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009443 MONDO:0011026 False autosomal recessive congenital ichthyosis 4B autosomal recessive congenital ichthyosis 4A UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS +MONDO:0009444 MONDO:0019287 False ichthyosis-alopecia-eclabion-ectropion-intellectual disability syndrome ectodermal dysplasia syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0009445 MONDO:0002254 False ichthyosis-hepatosplenomegaly-cerebellar degeneration syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009445 MONDO:0100309 False ichthyosis-hepatosplenomegaly-cerebellar degeneration syndrome hereditary ataxia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009446 MONDO:0002254 False ichthyosis-intellectual disability-dwarfism-renal impairment syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009446 MONDO:0003847 False ichthyosis-intellectual disability-dwarfism-renal impairment syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009447 MONDO:0003847 False ichthyosis, split hairs, and amino aciduria hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009448 MONDO:0019216 False iminoglycinuria inborn disorder of amino acid transport UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009449 MONDO:0016575 False ciliary dyskinesia with defective radial spokes primary ciliary dyskinesia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0009450 MONDO:0016575 False ciliary dyskinesia with excessively long cilia primary ciliary dyskinesia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0009451 MONDO:0001222 False Nezelof syndrome congenital T-cell immunodeficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0009452 MONDO:0005046 False Vici syndrome immune system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0009452 MONDO:0006025 False Vici syndrome autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0009452 MONDO:0015161 False Vici syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009453 MONDO:0003847 False immune deficiency disease hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009453 MONDO:0005046 False immune deficiency disease immune system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009455 MONDO:0003847 False immunodeficiency, partial combined, with absence of HLA Determinants and beta-2-microglobulin from lymphocytes hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009456 MONDO:0009973 False Immunoerythromyeloid hypoplasia reticular dysgenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0009457 MONDO:0003847 False immunoglobulin d level in plasma, low hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009458 MONDO:0015708 False Schimke immuno-osseous dysplasia immuno-osseous dysplasia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009458 MONDO:0016761 False Schimke immuno-osseous dysplasia spondyloepiphyseal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0009459 MONDO:0002254 False channelopathy-associated congenital insensitivity to pain, autosomal recessive syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009459 MONDO:0003847 False channelopathy-associated congenital insensitivity to pain, autosomal recessive hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009460 MONDO:0003847 False indolylacroyl glycinuria with intellectual disability hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009461 MONDO:0018394 False spermatogenic failure 5 male infertility with teratozoospermia due to single gene mutation UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009462 MONDO:0003847 False inosine phosphorylase deficiency, immune defect due to hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009463 MONDO:0003847 False internal carotid arteries, hypoplasia of hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009464 MONDO:0003778 False immunodeficiency with defective T-cell response to interleukin 1 inborn error of immunity UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009465 MONDO:0006025 False multiple intestinal atresia autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0009465 MONDO:0021147 False multiple intestinal atresia disorder of development or morphogenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009467 MONDO:0021147 False natal teeth-intestinal pseudoobstruction-patent ductus syndrome disorder of development or morphogenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009468 MONDO:0006810 False pseudotumor cerebri intracranial hypertension UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0009468 MONDO:0011057 False pseudotumor cerebri cerebrovascular disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0009469 MONDO:0015762 False benign recurrent intrahepatic cholestasis type 1 progressive familial intrahepatic cholestasis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS MONDO:0009470 MONDO:0700120 False Baraitser-Winter syndrome 1 BAFopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -23487,47 +18399,112 @@ MONDO:0009471 MONDO:0009852 False intrinsic factor and r binder, combined congen MONDO:0009472 MONDO:0003847 False acetylation, slow hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009473 MONDO:0015160 False isotretinoin-like syndrome multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009474 MONDO:0003847 False isovaleric acid, inability to smell hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009475 MONDO:0019215 False isovaleric acidemia classic organic aciduria UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009476 MONDO:0021147 False atresia of small intestine disorder of development or morphogenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009476 MONDO:0024635 False atresia of small intestine small intestine disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009477 MONDO:0015159 False Stromme syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009477 MONDO:0016575 False Stromme syndrome primary ciliary dyskinesia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS +MONDO:0009477 MONDO:0043009 False Stromme syndrome hereditary lethal multiple congenital anomalies/dysmorphic syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009479 MONDO:0002320 False Johanson-Blizzard syndrome congenital nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0009479 MONDO:0005365 False Johanson-Blizzard syndrome hearing loss disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009479 MONDO:0006025 False Johanson-Blizzard syndrome autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0009479 MONDO:0015159 False Johanson-Blizzard syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009479 MONDO:0037940 False Johanson-Blizzard syndrome inherited auditory system disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009480 MONDO:0002254 False Joubert syndrome with oculorenal defect syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009480 MONDO:0015369 False Joubert syndrome with oculorenal defect Joubert syndrome and related disorders UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009480 MONDO:0020022 False Joubert syndrome with oculorenal defect central nervous system malformation UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009480 MONDO:0024458 False Joubert syndrome with oculorenal defect disorder of visual system UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009481 MONDO:0003847 False Jumping Frenchmen of Maine hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009482 MONDO:0018800 False hypogonadotropic hypogonadism 3 with or without anosmia Kallmann syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0009483 MONDO:0015159 False Kapur-Toriello syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009485 MONDO:0002254 False oculocerebrofacial syndrome, Kaufman type syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0009485 MONDO:0003847 False oculocerebrofacial syndrome, Kaufman type hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0009485 MONDO:0015159 False oculocerebrofacial syndrome, Kaufman type multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009486 MONDO:0006025 False autosomal recessive Kenny-Caffey syndrome autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0009487 MONDO:0003847 False keratoconus and congenital hip dysplasia hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009488 MONDO:0003847 False keratoconus posticus circumscriptus hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009489 MONDO:0017666 False hereditary palmoplantar keratoderma, Gamborg-Nielsen type diffuse palmoplantar keratoderma UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009490 MONDO:0002635 False Papillon-Lefevre disease periodontal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0009490 MONDO:0006025 False Papillon-Lefevre disease autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0009490 MONDO:0015978 False Papillon-Lefevre disease functional neutrophil defect UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009490 MONDO:0017666 False Papillon-Lefevre disease diffuse palmoplantar keratoderma UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009490 MONDO:0017739 False Papillon-Lefevre disease disorder of lysosomal-related organelles UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009490 MONDO:0800465 False Papillon-Lefevre disease CTSC-related disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009491 MONDO:0006025 False Haim-Munk syndrome autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009491 MONDO:0017666 False Haim-Munk syndrome diffuse palmoplantar keratoderma UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009491 MONDO:0017739 False Haim-Munk syndrome disorder of lysosomal-related organelles UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009491 MONDO:0800465 False Haim-Munk syndrome CTSC-related disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009492 MONDO:0019229 False succinyl-CoA:3-ketoacid CoA transferase deficiency inborn disorder of ketolysis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009493 MONDO:0100309 False Richards-Rundle syndrome hereditary ataxia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009495 MONDO:0015159 False Keutel syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009495 MONDO:0019054 False Keutel syndrome congenital limb malformation UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009495 MONDO:0019701 False Keutel syndrome chondrodysplasia punctata UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009496 MONDO:0003847 False Kniest-like dysplasia with pursed lips and ectopia lentis hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009497 MONDO:0003847 False Kifafa seizure disorder hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009498 MONDO:0005516 False lethal Kniest-like dysplasia osteochondrodysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009498 MONDO:0018230 False lethal Kniest-like dysplasia skeletal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009499 MONDO:0004884 False Krabbe disease eye degenerative disorder UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0009499 MONDO:0020127 False Krabbe disease hereditary peripheral neuropathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009500 MONDO:0015979 False kuru, susceptibility to hereditary predisposition to infections UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009501 MONDO:0020123 False metabolic myopathy due to lactate transporter defect metabolic myopathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009501 MONDO:0700223 False metabolic myopathy due to lactate transporter defect hereditary skeletal muscle disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009504 MONDO:0006040 False mitochondrial DNA depletion syndrome 9 lactic acidosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009504 MONDO:0016796 False mitochondrial DNA depletion syndrome 9 mitochondrial DNA depletion syndrome, encephalomyopathic form UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009505 MONDO:0017688 False lactic aciduria due to D-lactic acid disorder of glycolysis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009506 MONDO:0003847 False specific granule deficiency hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009506 MONDO:0015978 False specific granule deficiency functional neutrophil defect UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009506 MONDO:0024626 False specific granule deficiency defective phagocytic cell engulfment UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009507 MONDO:0015159 False Lambert syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009508 MONDO:0003847 False Lambotte syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009509 MONDO:0002254 False Landau-Kleffner syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0009509 MONDO:0000414 False Landau-Kleffner syndrome childhood electroclinical syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0009509 MONDO:0015653 False Landau-Kleffner syndrome monogenic epilepsy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009509 MONDO:0020072 False Landau-Kleffner syndrome childhood-onset epilepsy syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009511 MONDO:0005267 False Larsen-like syndrome, B3GAT3 type heart disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0009511 MONDO:0015286 False Larsen-like syndrome, B3GAT3 type congenital disorder of glycosylation UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0009511 MONDO:0015327 False Larsen-like syndrome, B3GAT3 type developmental anomaly of metabolic origin UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009511 MONDO:0018230 False Larsen-like syndrome, B3GAT3 type skeletal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009512 MONDO:0019755 False lethal Larsen-like syndrome developmental defect during embryogenesis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009513 MONDO:0002254 False laryngo-onycho-cutaneous syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009513 MONDO:0005087 False laryngo-onycho-cutaneous syndrome respiratory system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009513 MONDO:0017612 False laryngo-onycho-cutaneous syndrome junctional epidermolysis bullosa UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0009514 MONDO:0006025 False Laurence-Moon syndrome autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0009514 MONDO:0015159 False Laurence-Moon syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009514 MONDO:0015770 False Laurence-Moon syndrome congenital hypogonadotropic hypogonadism UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009515 MONDO:0001822 False Norum disease hypolipoproteinemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0009515 MONDO:0018999 False Norum disease LCAT deficiency UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009516 MONDO:0003847 False absence deformity of leg-cataract syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009516 MONDO:0018234 False absence deformity of leg-cataract syndrome dysostosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009516 MONDO:0019054 False absence deformity of leg-cataract syndrome congenital limb malformation UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009517 MONDO:0006025 False Donohue syndrome autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0009517 MONDO:0015161 False Donohue syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009518 MONDO:0015979 False leprosy, susceptibility to, 3 hereditary predisposition to infections UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009519 MONDO:0017025 False letterer-Siwe disease Langerhans cell histiocytosis specific to childhood UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009520 MONDO:0017713 False 3-hydroxy-3-methylglutaric aciduria disorder of fatty acid oxidation and ketogenesis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009520 MONDO:0019215 False 3-hydroxy-3-methylglutaric aciduria classic organic aciduria UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009521 MONDO:0003847 False leukemia, acute myelocytic, with polyposis coli and colon cancer hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009521 MONDO:0020683 False leukemia, acute myelocytic, with polyposis coli and colon cancer acute disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009522 MONDO:0019287 False Leukomelanoderma-infantilism-intellectual disability-hypodontia-hypotrichosis syndrome ectodermal dysplasia syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0009523 MONDO:0015134 False Lichtenstein syndrome constitutional neutropenia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009524 MONDO:0015159 False intellectual disability-spasticity-ectrodactyly syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009524 MONDO:0018234 False intellectual disability-spasticity-ectrodactyly syndrome dysostosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009524 MONDO:0019054 False intellectual disability-spasticity-ectrodactyly syndrome congenital limb malformation UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009525 MONDO:0015160 False split hand-foot malformation 3 multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009525 MONDO:0016961 False split hand-foot malformation 3 partial duplication of the long arm of chromosome 10 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009526 MONDO:0018234 False fibular aplasia, tibial campomelia, and oligosyndactyly syndrome dysostosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009526 MONDO:0019054 False fibular aplasia, tibial campomelia, and oligosyndactyly syndrome congenital limb malformation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009526 MONDO:0019713 False fibular aplasia, tibial campomelia, and oligosyndactyly syndrome non-syndromic limb reduction defect UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009527 MONDO:0006025 False lipase deficiency, combined autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0009527 MONDO:0018637 False lipase deficiency, combined familial chylomicronemia syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0009528 MONDO:0017774 False chylomicron retention disease hypobetalipoproteinemia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0009529 MONDO:0018424 False pyruvate dehydrogenase E3 deficiency inherited lipoic acid biosynthesis defect UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009529 MONDO:0019169 False pyruvate dehydrogenase E3 deficiency pyruvate dehydrogenase deficiency UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0009530 MONDO:0002525 False lipoid proteinosis inherited lipid metabolism disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0009530 MONDO:0021154 False lipoid proteinosis dermis disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009530 MONDO:0100118 False lipoid proteinosis hereditary skin disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009532 MONDO:0015146 False Miller-Dieker lissencephaly syndrome classic lissencephaly UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009532 MONDO:0022754 False Miller-Dieker lissencephaly syndrome chromosome 17p deletion UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009533 MONDO:0015161 False Dahlberg-Borer-Newcomer syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009533 MONDO:0019287 False Dahlberg-Borer-Newcomer syndrome ectodermal dysplasia syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0009533 MONDO:0019313 False Dahlberg-Borer-Newcomer syndrome lymphatic malformation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0009534 MONDO:0015279 False chronic mucocutaneous candidiasis due to inhibition of lymphoblastic transformation chronic mucocutaneous candidiasis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0009536 MONDO:0015279 False chronic mucocutaneous candidiasis due to intrinsic defect in lymphoblastic transformation chronic mucocutaneous candidiasis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING @@ -23537,111 +18514,193 @@ MONDO:0009540 MONDO:0015279 False chronic mucocutaneous candidiasis due to lymph MONDO:0009541 MONDO:0003847 False lymphopenic hypergammaglobulinemia, antibody deficiency, autoimmune hemolytic anemia, and glomerulonephritis hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009542 MONDO:0003847 False lysine malabsorption syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009542 MONDO:0020598 False lysine malabsorption syndrome malabsorption syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009543 MONDO:0015159 False prominent glabella-microcephaly-hypogenitalism syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009544 MONDO:0016608 False macrocephaly/megalencephaly syndrome, autosomal recessive megalencephaly UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009545 MONDO:0003847 False macroepiphyseal dysplasia with osteoporosis, wrinkled skin, and aged appearance hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009546 MONDO:0003847 False macrosomia adiposa congenita hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009547 MONDO:0015161 False macrosomia-microphthalmia-cleft palate syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009548 MONDO:0017624 False renal hypomagnesemia 5 with ocular involvement familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009548 MONDO:0020242 False renal hypomagnesemia 5 with ocular involvement hereditary macular dystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009549 MONDO:0019353 False severe early-childhood-onset retinal dystrophy Stargardt disease UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009549 MONDO:0800406 False severe early-childhood-onset retinal dystrophy ABCA4-related retinopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009550 MONDO:0001567 False renal hypomagnesemia 3 nephrocalcinosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0009550 MONDO:0006510 False renal hypomagnesemia 3 renal tubular transport disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0009550 MONDO:0017624 False renal hypomagnesemia 3 familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009551 MONDO:0003847 False magnesium, elevated red cell hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009552 MONDO:0017666 False mal de Meleda diffuse palmoplantar keratoderma UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009555 MONDO:0003847 False malocclusion and short stature hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009556 MONDO:0000688 False malonic aciduria inborn organic aciduria UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009557 MONDO:0021106 False mandibuloacral dysplasia with type A lipodystrophy laminopathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009559 MONDO:0003847 False mandibulofacial dysostosis with mental deficiency hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009560 MONDO:0003847 False oculotrichoanal syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009560 MONDO:0015160 False oculotrichoanal syndrome multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009561 MONDO:0005328 False alpha-mannosidosis eye disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0009561 MONDO:0019251 False alpha-mannosidosis oligosaccharidosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009561 MONDO:0800088 False alpha-mannosidosis lysosomal storage disease with skeletal involvement UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009562 MONDO:0019251 False beta-mannosidosis oligosaccharidosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009562 MONDO:0020127 False beta-mannosidosis hereditary peripheral neuropathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009562 MONDO:0800088 False beta-mannosidosis lysosomal storage disease with skeletal involvement UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009563 MONDO:0000688 False maple syrup urine disease inborn organic aciduria UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0009563 MONDO:0019242 False maple syrup urine disease inborn disorder of branched-chain amino acid metabolism UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009564 MONDO:0005308 False Marden-Walker syndrome ciliopathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009564 MONDO:0015159 False Marden-Walker syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009564 MONDO:0015168 False Marden-Walker syndrome arthrogryposis multiplex congenita UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0009565 MONDO:0015159 False microcephaly-glomerulonephritis-marfanoid habitus syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009566 MONDO:0015159 False marfanoid habitus-autosomal recessive intellectual disability syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009567 MONDO:0002254 False Marinesco-Sjogren syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0009567 MONDO:0020046 False Marinesco-Sjogren syndrome autosomal recessive degenerative and progressive cerebellar ataxia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009569 MONDO:0015160 False Hennekam-Beemer syndrome multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009570 MONDO:0015159 False McDonough syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009571 MONDO:0800066 False Meckel syndrome, type 1 polydactyly-syndactyly-triphalangism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009572 MONDO:0006025 False autosomal recessive familial Mediterranean fever autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009572 MONDO:0018088 False autosomal recessive familial Mediterranean fever familial Mediterranean fever UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009573 MONDO:0003847 False megaepiphyseal dwarfism hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009574 MONDO:0003847 False megalencephaly with dysmyelination hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009575 MONDO:0006025 False thiamine-responsive megaloblastic anemia syndrome autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0009575 MONDO:0020112 False thiamine-responsive megaloblastic anemia syndrome vitamin B12- and folate-independent constitutional megaloblastic anemia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009576 MONDO:0000942 False megalocornea corneal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0009576 MONDO:0003847 False megalocornea hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0009577 MONDO:0005328 False megalocornea-intellectual disability syndrome eye disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009578 MONDO:0000648 False neurocutaneous melanocytosis nervous system benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009578 MONDO:0005073 False neurocutaneous melanocytosis melanocytic nevus UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009578 MONDO:0042983 False neurocutaneous melanocytosis neurocutaneous syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009578 MONDO:0100118 False neurocutaneous melanocytosis hereditary skin disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009579 MONDO:0002254 False Frank-Ter Haar syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0009579 MONDO:0019690 False Frank-Ter Haar syndrome filamin-related bone disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009581 MONDO:0015159 False intellectual disability-dysmorphism-hypogonadism-diabetes mellitus syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009582 MONDO:0002254 False Mietens syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009582 MONDO:0015160 False Mietens syndrome multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009582 MONDO:0024458 False Mietens syndrome disorder of visual system UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009583 MONDO:0000734 False blepharophimosis - intellectual disability syndrome, Ohdo type Ohdo syndrome and variants UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009584 MONDO:0000508 False intellectual disability, Buenos-Aires type syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009584 MONDO:0002320 False intellectual disability, Buenos-Aires type congenital nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009584 MONDO:0015159 False intellectual disability, Buenos-Aires type multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009585 MONDO:0024237 False encephalopathy due to beta-mercaptolactate-cysteine disulfiduria inherited neurodegenerative disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009586 MONDO:0003847 False mesangial sclerosis, diffuse renal, with ocular abnormalities hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009587 MONDO:0003847 False mesoaxial hexadactyly and cardiac malformation hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009588 MONDO:0023599 False Langer mesomelic dysplasia mesomelic dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009588 MONDO:0018230 False Langer mesomelic dysplasia skeletal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009589 MONDO:0002254 False mesomelic dwarfism-cleft palate-camptodactyly syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009589 MONDO:0015161 False mesomelic dwarfism-cleft palate-camptodactyly syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009589 MONDO:0018230 False mesomelic dwarfism-cleft palate-camptodactyly syndrome skeletal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009590 MONDO:0018868 False metachromatic leukodystrophy due to saposin B deficiency metachromatic leukodystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009590 MONDO:0100517 False metachromatic leukodystrophy due to saposin B deficiency PSAP-related sphingolipidosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009591 MONDO:0018868 False metachromatic leukodystrophy, juvenile form metachromatic leukodystrophy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009592 MONDO:0018230 False metaphyseal acroscyphodysplasia skeletal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009593 MONDO:0040566 False spondylometaphyseal dysplasia, Sedaghatian type inherited glutathione metabolism disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009593 MONDO:0800080 False spondylometaphyseal dysplasia, Sedaghatian type severe spondylodysplastic dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009594 MONDO:0005516 False metaphyseal chondrodysplasia, Kaitila type osteochondrodysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009594 MONDO:0018230 False metaphyseal chondrodysplasia, Kaitila type skeletal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009595 MONDO:0005172 False cartilage-hair hypoplasia skeletal system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009595 MONDO:0006025 False cartilage-hair hypoplasia autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0009595 MONDO:0015708 False cartilage-hair hypoplasia immuno-osseous dysplasia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009595 MONDO:0019287 False cartilage-hair hypoplasia ectodermal dysplasia syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS MONDO:0009596 MONDO:0003847 False metaphyseal chondrodysplasia, Pena type hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009597 MONDO:0005516 False metaphyseal chondrodysplasia, Spahr type osteochondrodysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009597 MONDO:0018230 False metaphyseal chondrodysplasia, Spahr type skeletal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009598 MONDO:0002254 False metaphyseal chondrodysplasia-retinitis pigmentosa syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009598 MONDO:0005516 False metaphyseal chondrodysplasia-retinitis pigmentosa syndrome osteochondrodysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009598 MONDO:0018230 False metaphyseal chondrodysplasia-retinitis pigmentosa syndrome skeletal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009599 MONDO:0002254 False metaphyseal dysostosis-intellectual disability-conductive deafness syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009599 MONDO:0018230 False metaphyseal dysostosis-intellectual disability-conductive deafness syndrome skeletal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009600 MONDO:0003847 False metaphyseal dysplasia, anetoderma, and optic atrophy hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009601 MONDO:0009595 False metaphyseal dysplasia without hypotrichosis cartilage-hair hypoplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0009602 MONDO:0003847 False metaphyseal modeling abnormality, skin lesions, and spastic paraplegia hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009603 MONDO:0019215 False 3-hydroxyisobutyryl-CoA hydrolase deficiency classic organic aciduria UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009603 MONDO:0019242 False 3-hydroxyisobutyryl-CoA hydrolase deficiency inborn disorder of branched-chain amino acid metabolism UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009603 MONDO:0037870 False 3-hydroxyisobutyryl-CoA hydrolase deficiency valine metabolism disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009604 MONDO:0018963 False methemoglobin reductase deficiency hereditary methemoglobinemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009605 MONDO:0018963 False methemoglobinemia type 4 hereditary methemoglobinemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009606 MONDO:0018963 False methemoglobinemia due to deficiency of methemoglobin reductase hereditary methemoglobinemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009607 MONDO:0019222 False methionine adenosyltransferase deficiency inborn disorder of methionine cycle and sulfur amino acid metabolism UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009608 MONDO:0003847 False methionine malabsorption syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009609 MONDO:0018964 False methylcobalamin deficiency type cblG homocystinuria without methylmalonic aciduria UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009612 MONDO:0019215 False methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency classic organic aciduria UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009613 MONDO:0017214 False methylmalonic aciduria, cblA type vitamin B12-responsive methylmalonic acidemia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009614 MONDO:0017214 False methylmalonic aciduria, cblB type vitamin B12-responsive methylmalonic acidemia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009615 MONDO:0002012 False methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency methylmalonic acidemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009616 MONDO:0002254 False microcephalic primordial dwarfism, Toriello type syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009616 MONDO:0800063 False microcephalic primordial dwarfism, Toriello type primordial dwarfism and slender bone disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009617 MONDO:0100200 False microcephaly 1, primary, autosomal recessive microcephaly with intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009618 MONDO:0015159 False microcephaly-cardiomyopathy syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009619 MONDO:0003847 False microcephaly-micromelia syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009620 MONDO:0002254 False Say-Barber-Miller syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009620 MONDO:0003778 False Say-Barber-Miller syndrome inborn error of immunity UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009620 MONDO:0015159 False Say-Barber-Miller syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009621 MONDO:0015159 False microcephaly-cervical spine fusion anomalies syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009622 MONDO:0003847 False Jawad syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009622 MONDO:0015159 False Jawad syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009623 MONDO:0006025 False Nijmegen breakage syndrome autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0009623 MONDO:0015161 False Nijmegen breakage syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009623 MONDO:0015327 False Nijmegen breakage syndrome developmental anomaly of metabolic origin UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009623 MONDO:0021190 False Nijmegen breakage syndrome DNA repair disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009624 MONDO:0002254 False microcephaly and chorioretinopathy 1 syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0009624 MONDO:0019118 False microcephaly and chorioretinopathy 1 inherited retinal dystrophy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0009626 MONDO:0006025 False pseudo-TORCH syndrome autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0009627 MONDO:0006025 False Galloway-Mowat syndrome autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0009632 MONDO:0003847 False microphthalmia with hyperopia, retinal degeneration, macrophakia, and dental anomalies hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009633 MONDO:0100236 False microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma LTBP2-related ocular dysgenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009634 MONDO:0002254 False microtia with meatal atresia and conductive deafness syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009634 MONDO:0003847 False microtia with meatal atresia and conductive deafness hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009635 MONDO:0045032 False microvillus inclusion disease congenital secretory diarrhea UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009637 MONDO:0002921 False inborn mitochondrial myopathy congenital structural myopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0009636 MONDO:0019236 False mitochondrial DNA depletion syndrome 3 (hepatocerebral type) inborn disorder of purine metabolism UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009636 MONDO:0100512 False mitochondrial DNA depletion syndrome 3 (hepatocerebral type) mitochondrial DNA depletion syndrome, hepatocerebral form UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009637 MONDO:0004069 False inborn mitochondrial myopathy inborn mitochondrial metabolism disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0009638 MONDO:0009637 False mitochondrial myopathy with a defect in mitochondrial-protein transport inborn mitochondrial myopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009642 MONDO:0019691 False orofaciodigital syndrome type II short rib dysplasia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009645 MONDO:0015279 False chronic mucocutaneous candidiasis due to monocyte chemotactic disorder chronic mucocutaneous candidiasis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0009647 MONDO:0018938 False Morquio syndrome C mucopolysaccharidosis type 4 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009648 MONDO:0015914 False peripheral motor neuropathy-dysautonomia syndrome primary orthostatic hypotension UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009650 MONDO:0100122 False mucolipidosis type II GNPTAB-mucolipidosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009650 MONDO:0800088 False mucolipidosis type II lysosomal storage disease with skeletal involvement UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009652 MONDO:0031422 False GNPTG-mucolipidosis familial mucolipidosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0009652 MONDO:0800088 False GNPTG-mucolipidosis lysosomal storage disease with skeletal involvement UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009653 MONDO:0005328 False mucolipidosis type IV eye disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0009661 MONDO:0002254 False mucopolysaccharidosis type 6 syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0009653 MONDO:0031422 False mucolipidosis type IV familial mucolipidosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0009655 MONDO:0800088 False mucopolysaccharidosis type 3A lysosomal storage disease with skeletal involvement UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009656 MONDO:0800088 False mucopolysaccharidosis type 3B lysosomal storage disease with skeletal involvement UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009657 MONDO:0800088 False mucopolysaccharidosis type 3C lysosomal storage disease with skeletal involvement UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009658 MONDO:0800088 False mucopolysaccharidosis type 3D lysosomal storage disease with skeletal involvement UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009659 MONDO:0800088 False mucopolysaccharidosis type 4A lysosomal storage disease with skeletal involvement UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009660 MONDO:0800088 False mucopolysaccharidosis type 4B lysosomal storage disease with skeletal involvement UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009661 MONDO:0005328 False mucopolysaccharidosis type 6 eye disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0009661 MONDO:0800088 False mucopolysaccharidosis type 6 lysosomal storage disease with skeletal involvement UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009662 MONDO:0800088 False mucopolysaccharidosis type 7 lysosomal storage disease with skeletal involvement UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009663 MONDO:0003847 False mucus inspissation of respiratory tract hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009664 MONDO:0006025 False mulibrey nanism autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0009664 MONDO:0021147 False mulibrey nanism disorder of development or morphogenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009664 MONDO:0100306 False mulibrey nanism disorder of defective peroxisome oxidative status UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009665 MONDO:0015454 False biotinidase deficiency multiple carboxylase deficiency UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0009665 MONDO:0015653 False biotinidase deficiency monogenic epilepsy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009665 MONDO:0020127 False biotinidase deficiency hereditary peripheral neuropathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009665 MONDO:0100033 False biotinidase deficiency metabolic epilepsy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009666 MONDO:0015454 False holocarboxylase synthetase deficiency multiple carboxylase deficiency UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0009666 MONDO:0015653 False holocarboxylase synthetase deficiency monogenic epilepsy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009666 MONDO:0019242 False holocarboxylase synthetase deficiency inborn disorder of branched-chain amino acid metabolism UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009666 MONDO:0100033 False holocarboxylase synthetase deficiency metabolic epilepsy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009667 MONDO:0018939 False muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3 muscle-eye-brain disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009667 MONDO:0700068 False muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3 myopathy caused by variation in POMGNT1 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009668 MONDO:0002254 False lethal multiple pterygium syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009668 MONDO:0015159 False lethal multiple pterygium syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009668 MONDO:0017415 False lethal multiple pterygium syndrome multiple pterygium syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009669 MONDO:0019079 False spinal muscular atrophy, type 1 proximal spinal muscular atrophy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009670 MONDO:0002254 False lethal congenital contracture syndrome 1 syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0009670 MONDO:0015161 False lethal congenital contracture syndrome 1 multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009670 MONDO:0015929 False lethal congenital contracture syndrome 1 thoracic malformation UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009671 MONDO:0019952 False intellectual disability-myopathy-short stature-endocrine defect syndrome congenital myopathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0009672 MONDO:0019079 False spinal muscular atrophy, type III proximal spinal muscular atrophy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009673 MONDO:0019079 False spinal muscular atrophy, type II proximal spinal muscular atrophy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009674 MONDO:0003847 False muscular dystrophy, adult-onset, with leukoencephalopathy hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009676 MONDO:0016145 False autosomal recessive limb-girdle muscular dystrophy type 2B qualitative or quantitative defects of dysferlin UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009677 MONDO:0016143 False autosomal recessive limb-girdle muscular dystrophy type 2C qualitative or quantitative defects of gamma-sarcoglycan UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009677 MONDO:0016333 False autosomal recessive limb-girdle muscular dystrophy type 2C familial dilated cardiomyopathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0009678 MONDO:0018939 False muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 muscle-eye-brain disease UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009678 MONDO:0700067 False muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 myopathy caused by variation in FKTN UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009679 MONDO:0015168 False arthrogryposis due to muscular dystrophy arthrogryposis multiplex congenita UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009679 MONDO:0019950 False arthrogryposis due to muscular dystrophy congenital muscular dystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009680 MONDO:0019950 False congenital muscular dystrophy-infantile cataract-hypogonadism syndrome congenital muscular dystrophy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009681 MONDO:0100225 False Ullrich congenital muscular dystrophy 1 collagen 6-related myopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009682 MONDO:0019950 False muscular dystrophy, congenital, with rapid progression congenital muscular dystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009683 MONDO:0016153 False autosomal recessive limb-girdle muscular dystrophy type 2H qualitative or quantitative defects of TRIM32 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009684 MONDO:0003847 False muscular hypertonia, lethal hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009685 MONDO:0018949 False Miyoshi myopathy distal myopathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS MONDO:0009686 MONDO:0003847 False musk, inability to smell hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009687 MONDO:0002320 False myasthenia, congenital, refractory to acetylcholinesterase inhibitors congenital nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009687 MONDO:0018940 False myasthenia, congenital, refractory to acetylcholinesterase inhibitors congenital myasthenic syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING @@ -23649,12 +18708,18 @@ MONDO:0009688 MONDO:0000590 False myasthenia gravis autoimmune disorder of perip MONDO:0009689 MONDO:0002320 False congenital myasthenic syndrome 6 congenital nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0009690 MONDO:0019950 False congenital myasthenic syndrome 10 congenital muscular dystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0009690 MONDO:0020344 False congenital myasthenic syndrome 10 postsynaptic congenital myasthenic syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009691 MONDO:0015821 False mycosis fungoides mycosis fungoides and variants UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009692 MONDO:0015610 False primary myelofibrosis acquired aplastic anemia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009693 MONDO:0000621 False plasma cell myeloma immune system cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0009693 MONDO:0005170 False plasma cell myeloma myeloid neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0009694 MONDO:0003847 False myeloperoxidase deficiency hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009694 MONDO:0015978 False myeloperoxidase deficiency functional neutrophil defect UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009694 MONDO:0024626 False myeloperoxidase deficiency defective phagocytic cell engulfment UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009695 MONDO:0020076 False myeloproliferative disease, autosomal recessive myeloproliferative neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009696 MONDO:0000414 False juvenile myoclonic epilepsy childhood electroclinical syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0009696 MONDO:0000415 False juvenile myoclonic epilepsy adolescence-adult electroclinical syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0009696 MONDO:0005395 False juvenile myoclonic epilepsy movement disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0009696 MONDO:0017704 False juvenile myoclonic epilepsy familial partial epilepsy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009696 MONDO:0100030 False juvenile myoclonic epilepsy adolescent/adult-onset epilepsy syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009697 MONDO:0002412 False Lafora disease disorder of glycogen metabolism UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS MONDO:0009697 MONDO:0005395 False Lafora disease movement disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS @@ -23663,15 +18728,21 @@ MONDO:0009701 MONDO:0003847 False myopathy, granulovacuolar lobular, with electr MONDO:0009702 MONDO:0003847 False myopathy due to malate-aspartate shuttle defect hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009703 MONDO:0005336 False myopathy with abnormal lipid metabolism myopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009703 MONDO:0700223 False myopathy with abnormal lipid metabolism hereditary skeletal muscle disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009705 MONDO:0037858 False carnitine palmitoyl transferase 1A deficiency inherited fatty acid metabolism disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009704 MONDO:0015515 False carnitine palmitoyl transferase II deficiency, myopathic form carnitine palmitoyltransferase II deficiency UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009705 MONDO:0017716 False carnitine palmitoyl transferase 1A deficiency disorder of carnitine cycle and carnitine transport UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009706 MONDO:0020123 False hereditary myopathy with lactic acidosis due to ISCU deficiency metabolic myopathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009706 MONDO:0044970 False hereditary myopathy with lactic acidosis due to ISCU deficiency mitochondrial disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009706 MONDO:0700223 False hereditary myopathy with lactic acidosis due to ISCU deficiency hereditary skeletal muscle disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009707 MONDO:0003847 False myopathy with giant abnormal mitochondria hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009708 MONDO:0019952 False myopathy, myosin storage, autosomal recessive congenital myopathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS +MONDO:0009709 MONDO:0015705 False myopathy, centronuclear, 2 autosomal recessive centronuclear myopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0009710 MONDO:0019119 False Thomsen and Becker disease muscular channelopathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009711 MONDO:0002921 False congenital fiber-type disproportion myopathy congenital structural myopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0009711 MONDO:0100108 False congenital fiber-type disproportion myopathy TPM3-related myopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009711 MONDO:0100150 False congenital fiber-type disproportion myopathy RYR1-related myopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009711 MONDO:0100196 False congenital fiber-type disproportion myopathy TPM2-related myopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009712 MONDO:0002320 False congenital multicore myopathy with external ophthalmoplegia congenital nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009712 MONDO:0018948 False congenital multicore myopathy with external ophthalmoplegia multiminicore myopathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009712 MONDO:0100150 False congenital multicore myopathy with external ophthalmoplegia RYR1-related myopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009714 MONDO:0100225 False myosclerosis collagen 6-related myopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009714 MONDO:0700223 False myosclerosis hereditary skeletal muscle disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -23679,32 +18750,54 @@ MONDO:0009715 MONDO:0006025 False myotonia congenita, autosomal recessive autoso MONDO:0009715 MONDO:0009710 False myotonia congenita, autosomal recessive Thomsen and Becker disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009716 MONDO:0015161 False Richieri Costa-da Silva syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009716 MONDO:0016761 False Richieri Costa-da Silva syndrome spondyloepiphyseal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009717 MONDO:0002254 False Schwartz-Jampel syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009717 MONDO:0006025 False Schwartz-Jampel syndrome autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009717 MONDO:0016151 False Schwartz-Jampel syndrome qualitative or quantitative defects of perlecan UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009717 MONDO:0016761 False Schwartz-Jampel syndrome spondyloepiphyseal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009719 MONDO:0003847 False familial atrial myxoma hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009719 MONDO:0021209 False familial atrial myxoma heart neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009720 MONDO:0015161 False Keipert syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009721 MONDO:0002254 False Nathalie syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009722 MONDO:0002320 False Bailey-Bloch congenital myopathy congenital nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0009722 MONDO:0019952 False Bailey-Bloch congenital myopathy congenital myopathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS +MONDO:0009723 MONDO:0016387 False Leigh syndrome mitochondrial oxidative phosphorylation disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009723 MONDO:0020127 False Leigh syndrome hereditary peripheral neuropathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009724 MONDO:0005240 False nail-patella-like renal disease kidney disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009725 MONDO:0015735 False nemaline myopathy 2 severe congenital nemaline myopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009725 MONDO:0015736 False nemaline myopathy 2 intermediate nemaline myopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009725 MONDO:0015737 False nemaline myopathy 2 typical nemaline myopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009725 MONDO:0015738 False nemaline myopathy 2 childhood-onset nemaline myopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009726 MONDO:0005046 False proteosome-associated autoinflammatory syndrome immune system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0009726 MONDO:0006025 False proteosome-associated autoinflammatory syndrome autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0009726 MONDO:0019751 False proteosome-associated autoinflammatory syndrome autoinflammatory syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009726 MONDO:0023603 False proteosome-associated autoinflammatory syndrome hereditary disorder of connective tissue UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009727 MONDO:0000226 False atelosteogenesis type II mineral metabolism disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009727 MONDO:0019052 False atelosteogenesis type II inborn errors of metabolism UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009728 MONDO:0002254 False nephronophthisis 1 syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0009728 MONDO:0005308 False nephronophthisis 1 ciliopathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0009729 MONDO:0002254 False nephropathy - deafness - hyperparathyroidism syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009729 MONDO:0003847 False nephropathy - deafness - hyperparathyroidism syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009731 MONDO:0002254 False nephrosis-deafness-urinary tract-digital malformations syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009735 MONDO:0002254 False Netherton syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0009731 MONDO:0015161 False nephrosis-deafness-urinary tract-digital malformations syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009735 MONDO:0005328 False Netherton syndrome eye disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0009735 MONDO:0006025 False Netherton syndrome autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0009735 MONDO:0015947 False Netherton syndrome inherited ichthyosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009735 MONDO:0018037 False Netherton syndrome hyper-IgE syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS MONDO:0009737 MONDO:0005328 False galactosialidosis eye disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0009741 MONDO:0020573 False neuroblastoma, susceptibility to, 1 inherited disease susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009737 MONDO:0019251 False galactosialidosis oligosaccharidosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009737 MONDO:0800088 False galactosialidosis lysosomal storage disease with skeletal involvement UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009738 MONDO:0017734 False sialidosis type 2 sialidosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009738 MONDO:0031422 False sialidosis type 2 familial mucolipidosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0009738 MONDO:0800088 False sialidosis type 2 lysosomal storage disease with skeletal involvement UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009740 MONDO:0015159 False neurofaciodigitorenal syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009741 MONDO:0015356 False neuroblastoma, susceptibility to, 1 hereditary neoplastic syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009742 MONDO:0003847 False neuroectodermal melanolysosomal disease hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009743 MONDO:0003847 False neurologic disease, infantile multisystem, with osseous fragility hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009745 MONDO:0015674 False neuronal ceroid lipofuscinosis 5 late infantile neuronal ceroid lipofuscinosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009747 MONDO:0100512 False mitochondrial DNA depletion syndrome 6 (hepatocerebral type) mitochondrial DNA depletion syndrome, hepatocerebral form UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009748 MONDO:0015150 False hereditary sensory and autonomic neuropathy with spastic paraplegia complex hereditary spastic paraplegia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009748 MONDO:0020127 False hereditary sensory and autonomic neuropathy with spastic paraplegia hereditary peripheral neuropathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009750 MONDO:0003847 False neuropathy, hereditary motor and sensory, with excessive myelin folding complex, autosomal recessive hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009751 MONDO:0015364 False neuropathy, hereditary sensory, atypical hereditary sensory and autonomic neuropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS MONDO:0009752 MONDO:0003847 False neuropathy, painful hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009754 MONDO:0008742 False neutropenia, lethal congenital, with eosinophilia autosomal dominant severe congenital neutropenia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009755 MONDO:0100118 False neutrophil actin dysfunction hereditary skin disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -23715,20 +18808,30 @@ MONDO:0009757 MONDO:0018982 False Niemann-Pick disease, type C1 Niemann-Pick dis MONDO:0009758 MONDO:0002320 False congenital stationary night blindness 1B congenital nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0009758 MONDO:0800397 False congenital stationary night blindness 1B GRM6-related retinopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009760 MONDO:0002254 False Norman-Roberts syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0009760 MONDO:0015204 False Norman-Roberts syndrome microlissencephaly UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0009760 MONDO:0019313 False Norman-Roberts syndrome lymphatic malformation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS MONDO:0009760 MONDO:0043218 False Norman-Roberts syndrome neurovascular disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009763 MONDO:0003847 False obesity-hypoventilation syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009764 MONDO:0005328 False ocular motor apraxia, Cogan type eye disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0009765 MONDO:0003847 False ocular myopathy with curare sensitivity hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009766 MONDO:0003847 False oculocerebral hypopigmentation syndrome of Preus hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009767 MONDO:0017305 False oculocerebral hypopigmentation syndrome, Cross type syndromic oculocutaneous albinism UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009767 MONDO:0021147 False oculocerebral hypopigmentation syndrome, Cross type disorder of development or morphogenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009768 MONDO:0006025 False oculodentodigital dysplasia, autosomal recessive autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009768 MONDO:0008111 False oculodentodigital dysplasia, autosomal recessive oculodentodigital dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0009769 MONDO:0015159 False oculo-palato-cerebral syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009771 MONDO:0019287 False oculotrichodysplasia ectodermal dysplasia syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0009772 MONDO:0003847 False oculorenocerebellar syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009773 MONDO:0006025 False odonto-onycho-dermal dysplasia autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009773 MONDO:0017666 False odonto-onycho-dermal dysplasia diffuse palmoplantar keratoderma UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009773 MONDO:0100358 False odonto-onycho-dermal dysplasia ectodermal dysplasia WNT10A related UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009774 MONDO:0002254 False cloacal exstrophy syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0009774 MONDO:0017919 False cloacal exstrophy exstrophy-epispadias complex UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0009775 MONDO:0019152 False Oguchi disease-1 Oguchi disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009777 MONDO:0015159 False Oliver syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009778 MONDO:0003847 False olivopontocerebellar atrophy II, autosomal recessive hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009779 MONDO:0006025 False autosomal recessive omodysplasia autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0009780 MONDO:0015159 False lethal omphalocele-cleft palate syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009781 MONDO:0003847 False Onychotrichodysplasia and neutropenia hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009782 MONDO:0003847 False ophthalmoplegia totalis with ptosis and miosis hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009783 MONDO:0016810 False progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1 autosomal recessive progressive external ophthalmoplegia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -23739,8 +18842,17 @@ MONDO:0009789 MONDO:0020573 False nonarteritic anterior ischemic optic neuropath MONDO:0009790 MONDO:0003847 False Opticocochleodentate degeneration hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009791 MONDO:0003847 False oral sensibility, disturbance of hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009792 MONDO:0002254 False ichthyosis-oral and digital anomalies syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009792 MONDO:0015161 False ichthyosis-oral and digital anomalies syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009792 MONDO:0015947 False ichthyosis-oral and digital anomalies syndrome inherited ichthyosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009794 MONDO:0015929 False orofaciodigital syndrome IV thoracic malformation UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009794 MONDO:0019691 False orofaciodigital syndrome IV short rib dysplasia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009796 MONDO:0001898 False ornithine aminotransferase deficiency optic choroid disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0009796 MONDO:0017356 False ornithine aminotransferase deficiency inborn disorder of ornithine metabolism UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009796 MONDO:0019118 False ornithine aminotransferase deficiency inherited retinal dystrophy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0009796 MONDO:0020127 False ornithine aminotransferase deficiency hereditary peripheral neuropathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009796 MONDO:0043218 False ornithine aminotransferase deficiency neurovascular disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009797 MONDO:0019238 False orotic aciduria inborn disorder of pyrimidine metabolism UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0009797 MONDO:0020112 False orotic aciduria vitamin B12- and folate-independent constitutional megaloblastic anemia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009798 MONDO:0002254 False Primrose syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009798 MONDO:0003847 False Primrose syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009800 MONDO:0017194 False Blount disease, adolescent Blount disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -23752,14 +18864,20 @@ MONDO:0009803 MONDO:0003847 False congenital osteogenesis imperfecta-microcephal MONDO:0009804 MONDO:0800064 False osteogenesis imperfecta type 3 osteogenesis imperfecta and a reduction of bone mineral density. UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009805 MONDO:0800064 False osteogenesis imperfecta type 9 osteogenesis imperfecta and a reduction of bone mineral density. UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009806 MONDO:0017195 False Bruck syndrome 1 Bruck syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009809 MONDO:0002254 False multicentric osteolysis, nodulosis, and arthropathy syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009809 MONDO:0018298 False multicentric osteolysis, nodulosis, and arthropathy multicentric osteolysis-nodulosis-arthropathy spectrum UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009810 MONDO:0019707 False autosomal recessive distal osteolysis syndrome primary osteolysis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009811 MONDO:0003847 False osteoma of middle ear hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009813 MONDO:0019751 False chronic recurrent multifocal osteomyelitis autoinflammatory syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009814 MONDO:0002254 False osteopenia-intellectual disability-sparse hair syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009817 MONDO:0010866 False autosomal recessive osteopetrosis 5 infantile osteopetrosis with neuroaxonal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS +MONDO:0009820 MONDO:0006025 False osteoporosis-pseudoglioma syndrome autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0009820 MONDO:0020247 False osteoporosis-pseudoglioma syndrome congenital vitreoretinal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009820 MONDO:0700228 False osteoporosis-pseudoglioma syndrome LRP5-related exudative vitreoretinopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009820 MONDO:0800064 False osteoporosis-pseudoglioma syndrome osteogenesis imperfecta and a reduction of bone mineral density. UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009821 MONDO:0019702 False lethal osteosclerotic bone dysplasia neonatal osteosclerotic dysplasia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009822 MONDO:0003847 False otoonychoperoneal syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009822 MONDO:0015161 False otoonychoperoneal syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009822 MONDO:0018234 False otoonychoperoneal syndrome dysostosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009823 MONDO:0100278 False primary hyperoxaluria type 1 alanine glyoxylate aminotransferase deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009825 MONDO:0040566 False 5-oxoprolinase deficiency inherited glutathione metabolism disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009826 MONDO:0003847 False PA polymorphism of alpha-2-globulin hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -23767,85 +18885,148 @@ MONDO:0009828 MONDO:0003847 False palant cleft palate syndrome hereditary diseas MONDO:0009832 MONDO:0003847 False pancreatic agenesis hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0009832 MONDO:0021147 False pancreatic agenesis disorder of development or morphogenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009833 MONDO:0006025 False Shwachman-Diamond syndrome autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0009835 MONDO:0006009 False subacute sclerosing panencephalitis viral encephalitis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0009836 MONDO:0003847 False pancreatitis, sclerosing cholangitis, and sicca complex hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009837 MONDO:0003847 False choroid plexus papilloma hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0009838 MONDO:0002254 False Parana hard-skin syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009838 MONDO:0005093 False Parana hard-skin syndrome skin disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009839 MONDO:0020488 False progressive supranuclear palsy-parkinsonism syndrome atypical progressive supranuclear palsy syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009839 MONDO:0024237 False progressive supranuclear palsy-parkinsonism syndrome inherited neurodegenerative disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009840 MONDO:0003847 False Partington-Anderson syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009841 MONDO:0002254 False PEHO syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0009841 MONDO:0024237 False PEHO syndrome inherited neurodegenerative disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009842 MONDO:0019751 False Pelger-Huet-like anomaly and episodic fever with abdominal pain autoinflammatory syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009842 MONDO:0023603 False Pelger-Huet-like anomaly and episodic fever with abdominal pain hereditary disorder of connective tissue UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009843 MONDO:0017226 False hypomyelinating leukodystrophy 3 Pelizaeus-Merzbacher-like disease UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009844 MONDO:0003847 False pellagra-like syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009845 MONDO:0018234 False pelviscapular dysplasia dysostosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009845 MONDO:0019054 False pelviscapular dysplasia congenital limb malformation UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009845 MONDO:0019713 False pelviscapular dysplasia non-syndromic limb reduction defect UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009846 MONDO:0019231 False pentosuria inborn disorder of pentose phosphate metabolism UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009847 MONDO:0001370 False pericardial effusion, chronic pericardial effusion UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009847 MONDO:0003847 False pericardial effusion, chronic hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009848 MONDO:0019296 False dissecting cellulitis of the scalp subcutaneous tissue disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009849 MONDO:0005046 False hyperimmunoglobulinemia D with periodic fever immune system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009849 MONDO:0017708 False hyperimmunoglobulinemia D with periodic fever mevalonate kinase deficiency UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009850 MONDO:0003847 False periodontitis, chronic, adult hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009850 MONDO:0005593 False periodontitis, chronic, adult chronic periodontitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009851 MONDO:0003847 False peripheral neuropathy, ataxia, focal necrotizing encephalopathy, and spongy degeneration of brain hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009852 MONDO:0000424 False hereditary intrinsic factor deficiency inborn vitamin B12 deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0009852 MONDO:0016624 False hereditary intrinsic factor deficiency inherited deficiency anemia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009852 MONDO:0019220 False hereditary intrinsic factor deficiency inborn disorder of cobalamin metabolism and transport UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009853 MONDO:0001700 False Imerslund-Grasbeck syndrome megaloblastic anemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009853 MONDO:0002254 False Imerslund-Grasbeck syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009853 MONDO:0016624 False Imerslund-Grasbeck syndrome inherited deficiency anemia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009853 MONDO:0019220 False Imerslund-Grasbeck syndrome inborn disorder of cobalamin metabolism and transport UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009854 MONDO:0003847 False peroneus tertius muscle, absence of hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009855 MONDO:0019233 False d-bifunctional protein deficiency disorder of peroxisomal beta oxidation UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009856 MONDO:0005267 False Peters plus syndrome heart disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0009856 MONDO:0005328 False Peters plus syndrome eye disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0009856 MONDO:0015159 False Peters plus syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009856 MONDO:0015327 False Peters plus syndrome developmental anomaly of metabolic origin UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009856 MONDO:0017747 False Peters plus syndrome disorder of fucoglycosan synthesis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009857 MONDO:0005518 False persistent Mullerian duct syndrome pseudohermaphroditism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0009858 MONDO:0015159 False Pfeiffer-Palm-Teller syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009859 MONDO:0015161 False PHAVER syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009860 MONDO:0003847 False phenformin 4-hydroxylation hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009861 MONDO:0006025 False phenylketonuria autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0009861 MONDO:0017306 False phenylketonuria disorder of phenylalanine metabolism UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009862 MONDO:0016543 False dihydropteridine reductase deficiency hyperphenylalaninemia due to tetrahydrobiopterin deficiency UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009862 MONDO:0045014 False dihydropteridine reductase deficiency tetrahydrobiopterin metabolic process disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009863 MONDO:0016543 False BH4-deficient hyperphenylalaninemia A hyperphenylalaninemia due to tetrahydrobiopterin deficiency UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009864 MONDO:0017320 False phosphoenolpyruvate carboxykinase deficiency, mitochondrial phosphoenolpyruvate carboxykinase deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009865 MONDO:0017688 False glycogen storage disease due to phosphoglycerate mutase deficiency disorder of glycolysis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009866 MONDO:0017320 False phosphoenolpyruvate carboxykinase deficiency, cytosolic phosphoenolpyruvate carboxykinase deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009867 MONDO:0002412 False lethal congenital glycogen storage disease of heart disorder of glycogen metabolism UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS +MONDO:0009867 MONDO:0800484 False lethal congenital glycogen storage disease of heart PRKAG2-related cardiomyopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009868 MONDO:0002412 False glycogen storage disease IXb disorder of glycogen metabolism UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS MONDO:0009869 MONDO:0005328 False isolated Pierre-Robin syndrome eye disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009870 MONDO:0019278 False pili torti hair anomaly UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009871 MONDO:0002254 False pili torti-developmental delay-neurological abnormalities syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009872 MONDO:0006025 False Bjornstad syndrome autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0009872 MONDO:0044970 False Bjornstad syndrome mitochondrial disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009874 MONDO:0002254 False Rabson-Mendenhall syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009873 MONDO:0019287 False pilodental dysplasia-refractive errors syndrome ectodermal dysplasia syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0009874 MONDO:0003847 False Rabson-Mendenhall syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009874 MONDO:0019280 False Rabson-Mendenhall syndrome hypertrichosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009875 MONDO:0018852 False achromatopsia 3 achromatopsia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0009875 MONDO:0100446 False achromatopsia 3 CNGB3-related retinopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009877 MONDO:0006025 False Laron syndrome autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0009877 MONDO:0015892 False Laron syndrome growth hormone insensitivity syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009878 MONDO:0019591 False pituitary hormone deficiency, combined, 2 panhypopituitarism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009879 MONDO:0000050 False short stature due to growth hormone qualitative anomaly isolated congenital growth hormone deficiency UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0009880 MONDO:0018762 False short stature-pituitary and cerebellar defects-small sella turcica syndrome non-acquired combined pituitary hormone deficiency UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009881 MONDO:0003847 False pituitary dwarfism with large sella turcica hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009882 MONDO:0003847 False plasma clot retraction factor, deficiency of hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009883 MONDO:0002242 False alpha-2-plasmin inhibitor deficiency coagulation protein disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009883 MONDO:0002243 False alpha-2-plasmin inhibitor deficiency hemorrhagic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0009883 MONDO:0021181 False alpha-2-plasmin inhibitor deficiency inherited blood coagulation disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009884 MONDO:0003847 False platelet prostacyclin receptor defect hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009885 MONDO:0021181 False Scott syndrome inherited blood coagulation disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009886 MONDO:0003847 False pleoconial myopathy with salt craving hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009888 MONDO:0003847 False polycystic kidney, cataract, and congenital blindness hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009889 MONDO:0006025 False autosomal recessive polycystic kidney disease autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0009890 MONDO:0012117 False Gillessen-Kaesbach-Nishimura syndrome ALG9-congenital disorder of glycosylation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0009892 MONDO:0016540 False Chuvash polycythemia congenital secondary polycythemia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009893 MONDO:0019673 False polydactyly, postaxial, type A5 postaxial polydactyly type A UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009894 MONDO:0019662 False short-rib thoracic dysplasia 6 with or without polydactyly short rib-polydactyly syndrome, Majewski type UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009895 MONDO:0021147 False postaxial polydactyly-dental and vertebral anomalies syndrome disorder of development or morphogenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009896 MONDO:0003847 False polymyoclonus, infantile hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009897 MONDO:0009292 False adult polyglucosan body disease glycogen storage disease due to glycogen branching enzyme deficiency UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0009897 MONDO:0020127 False adult polyglucosan body disease hereditary peripheral neuropathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009898 MONDO:0003847 False polysaccharide, storage of unusual hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009899 MONDO:0003847 False polyhydramnios, chronic idiopathic hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009899 MONDO:0700007 False polyhydramnios, chronic idiopathic idiopathic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009900 MONDO:0015161 False polysyndactyly-cardiac malformation syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009901 MONDO:0017435 False Bartsocas-Papas syndrome 1 popliteal pterygium syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009901 MONDO:0019287 False Bartsocas-Papas syndrome 1 ectodermal dysplasia syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0009901 MONDO:0043009 False Bartsocas-Papas syndrome 1 hereditary lethal multiple congenital anomalies/dysmorphic syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009902 MONDO:0003689 False cutaneous porphyria familial hemolytic anemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0009902 MONDO:0020585 False cutaneous porphyria anemia due to erythrocyte enzyme disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009904 MONDO:0002254 False Gitelman syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0009903 MONDO:0002254 False postaxial acrofacial dysostosis syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0009903 MONDO:0015161 False postaxial acrofacial dysostosis multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009903 MONDO:0018237 False postaxial acrofacial dysostosis acrofacial dysostosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0009904 MONDO:0006510 False Gitelman syndrome renal tubular transport disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0009904 MONDO:0015962 False Gitelman syndrome inherited renal tubular disease UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009905 MONDO:0015159 False urban-Rogers-Meyer syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009906 MONDO:0008882 False prenatal bowing congenital bowing of long bones UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0009907 MONDO:0003847 False Prepapillary vascular loops hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009908 MONDO:0016543 False pterin-4 alpha-carbinolamine dehydratase 1 deficiency hyperphenylalaninemia due to tetrahydrobiopterin deficiency UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009909 MONDO:0003847 False progesterone resistance hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009910 MONDO:0002254 False Wiedemann-Rautenstrauch syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0009910 MONDO:0015159 False Wiedemann-Rautenstrauch syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009910 MONDO:0015327 False Wiedemann-Rautenstrauch syndrome developmental anomaly of metabolic origin UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009910 MONDO:0020087 False Wiedemann-Rautenstrauch syndrome hereditary lipodystrophy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009910 MONDO:0800064 False Wiedemann-Rautenstrauch syndrome osteogenesis imperfecta and a reduction of bone mineral density. UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009911 MONDO:0003847 False prolactin deficiency, isolated hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009912 MONDO:0003847 False prolactin deficiency with obesity and enlarged testes hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009913 MONDO:0003847 False prune belly syndrome with pulmonic stenosis, intellectual disability, and deafness hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009914 MONDO:0018230 False pseudodiastrophic dysplasia skeletal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009914 MONDO:0019755 False pseudodiastrophic dysplasia developmental defect during embryogenesis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009915 MONDO:0017576 False 46,XX disorder of sex development-skeletal anomalies syndrome 46,XX disorder of sex development UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009916 MONDO:0003847 False 46,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0009916 MONDO:0020040 False 46,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency 46,XY disorder of sex development UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009917 MONDO:0019161 False autosomal recessive pseudohypoaldosteronism type 1 pseudohypoaldosteronism type 1 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009918 MONDO:0007640 False fundus dystrophy, pseudoinflammatory, recessive form Sorsby fundus dystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0009919 MONDO:0019233 False peroxisomal acyl-CoA oxidase deficiency disorder of peroxisomal beta oxidation UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009920 MONDO:0002254 False Acrootoocular syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009921 MONDO:0002254 False holoprosencephaly-postaxial polydactyly syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009921 MONDO:0015159 False holoprosencephaly-postaxial polydactyly syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009922 MONDO:0003847 False Pseudouridinuria and mental defect hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009923 MONDO:0002525 False 46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency inherited lipid metabolism disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009923 MONDO:0015327 False 46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency developmental anomaly of metabolic origin UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009923 MONDO:0020040 False 46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency 46,XY disorder of sex development UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009924 MONDO:0017323 False vitamin D-dependent rickets, type 1 hypocalcemic rickets UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009924 MONDO:0024299 False vitamin D-dependent rickets, type 1 vitamin D-dependent rickets UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009925 MONDO:0006025 False autosomal recessive inherited pseudoxanthoma elasticum autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0009925 MONDO:0023603 False autosomal recessive inherited pseudoxanthoma elasticum hereditary disorder of connective tissue UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009925 MONDO:0100091 False autosomal recessive inherited pseudoxanthoma elasticum inherited pseudoxanthoma elasticum UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009926 MONDO:0002254 False autosomal recessive multiple pterygium syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009926 MONDO:0006025 False autosomal recessive multiple pterygium syndrome autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009926 MONDO:0015161 False autosomal recessive multiple pterygium syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009926 MONDO:0017415 False autosomal recessive multiple pterygium syndrome multiple pterygium syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009928 MONDO:0003847 False pulmonary alveolar microlithiasis hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0009928 MONDO:0005275 False pulmonary alveolar microlithiasis lung disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0009929 MONDO:0020683 False neonatal acute respiratory distress due to SP-B deficiency acute disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009931 MONDO:0003847 False pulmonary atresia-intact ventricular septum syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009931 MONDO:0020291 False pulmonary atresia-intact ventricular septum syndrome hypoplastic right heart syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009932 MONDO:0003847 False pulmonary bullae causing pneumothorax hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009933 MONDO:0005087 False congenital pulmonary lymphangiectasia respiratory system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009933 MONDO:0006840 False congenital pulmonary lymphangiectasia lymphangiectasis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009933 MONDO:0019175 False congenital pulmonary lymphangiectasia primary lymphedema UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009934 MONDO:0003847 False alveolar capillary dysplasia with misalignment of pulmonary veins hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0009934 MONDO:0017015 False alveolar capillary dysplasia with misalignment of pulmonary veins primary interstitial lung disease specific to childhood UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009934 MONDO:0020295 False alveolar capillary dysplasia with misalignment of pulmonary veins congenital pulmonary veins anomaly UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009935 MONDO:0001999 False pulmonary hypertension, primary, autosomal recessive primary pulmonary hypertension UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009936 MONDO:0005087 False familial primary pulmonary hypoplasia respiratory system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -23855,348 +19036,633 @@ MONDO:0009937 MONDO:0005275 False pulmonary venoocclusive disease lung disorder MONDO:0009938 MONDO:0003847 False pulmonic stenosis hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009938 MONDO:0017865 False pulmonic stenosis congenital pulmonary valve stenosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009939 MONDO:0003847 False pulmonic stenosis and congenital nephrosis hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009940 MONDO:0002561 False pycnodysostosis lysosomal storage disease UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0009940 MONDO:0005516 False pycnodysostosis osteochondrodysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0009940 MONDO:0017198 False pycnodysostosis osteopetrosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0009941 MONDO:0003847 False Pygmy hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009942 MONDO:0005516 False pyknoachondrogenesis osteochondrodysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009942 MONDO:0018230 False pyknoachondrogenesis skeletal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009943 MONDO:0005516 False Pyle disease osteochondrodysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0009943 MONDO:0018230 False Pyle disease skeletal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009944 MONDO:0003847 False pyloric atresia hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009945 MONDO:0015653 False pyridoxine-dependent epilepsy monogenic epilepsy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009945 MONDO:0019237 False pyridoxine-dependent epilepsy inborn disorder of pyridoxine metabolism UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009945 MONDO:0100033 False pyridoxine-dependent epilepsy metabolic epilepsy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009946 MONDO:0003689 False hemolytic anemia due to pyrimidine 5' nucleotidase deficiency familial hemolytic anemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009946 MONDO:0019238 False hemolytic anemia due to pyrimidine 5' nucleotidase deficiency inborn disorder of pyrimidine metabolism UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009947 MONDO:0017909 False glutathione synthetase deficiency with 5-oxoprolinuria inherited glutathione synthetase deficiency UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0009948 MONDO:0003847 False pyropoikilocytosis, hereditary hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009949 MONDO:0019225 False pyruvate carboxylase deficiency disease disorder of gluconeogenesis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009950 MONDO:0006506 False pyruvate kinase deficiency of red cells congenital nonspherocytic hemolytic anemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0009950 MONDO:0017688 False pyruvate kinase deficiency of red cells disorder of glycolysis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009950 MONDO:0020585 False pyruvate kinase deficiency of red cells anemia due to erythrocyte enzyme disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009951 MONDO:0003847 False radiculoneuropathy, fatal neonatal hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009952 MONDO:0002320 False radioulnar synostosis-developmental delay-hypotonia syndrome congenital nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009952 MONDO:0005287 False radioulnar synostosis-developmental delay-hypotonia syndrome developmental disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009952 MONDO:0015159 False radioulnar synostosis-developmental delay-hypotonia syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009952 MONDO:0017985 False radioulnar synostosis-developmental delay-hypotonia syndrome congenital radioulnar synostosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009952 MONDO:0019054 False radioulnar synostosis-developmental delay-hypotonia syndrome congenital limb malformation UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009953 MONDO:0009332 False leukocyte adhesion deficiency type II congenital hematological disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009953 MONDO:0017749 False leukocyte adhesion deficiency type II disorder of multiple glycosylation UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009954 MONDO:0002081 False Ramon syndrome musculoskeletal system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009954 MONDO:0003847 False Ramon syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009955 MONDO:0006025 False rapadilino syndrome autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0009955 MONDO:0015161 False rapadilino syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009955 MONDO:0018234 False rapadilino syndrome dysostosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0009955 MONDO:0019054 False rapadilino syndrome congenital limb malformation UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009955 MONDO:0019713 False rapadilino syndrome non-syndromic limb reduction defect UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009956 MONDO:0003847 False red skin pigment anomaly of new guinea hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009957 MONDO:0003847 False Reese retinal dysplasia hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009958 MONDO:0100258 False adult Refsum disease phytanoyl-CoA hydroxylase deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009959 MONDO:0100266 False peroxisome biogenesis disorder type 3B peroxisome biogenesis disorder due to PEX12 defect UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009961 MONDO:0003847 False renal and mullerian duct hypoplasia hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009963 MONDO:0015159 False Ulbright-Hodes syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009964 MONDO:0019695 False short-rib thoracic dysplasia 9 with or without polydactyly acromelic dysplasia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009964 MONDO:0100509 False short-rib thoracic dysplasia 9 with or without polydactyly IFT140-related recessive ciliopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009965 MONDO:0003847 False Perlman syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0009965 MONDO:0019716 False Perlman syndrome overgrowth syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009966 MONDO:0020022 False NPHP3-related Meckel-like syndrome central nervous system malformation UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009967 MONDO:0001909 False renal tubular acidosis 3 renal tubular acidosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009968 MONDO:0018440 False renal tubular acidosis, distal, 2, with progressive sensorineural hearing loss autosomal recessive distal renal tubular acidosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009969 MONDO:0015161 False renal-genital-middle ear anomalies multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009970 MONDO:0017609 False renal tubular dysgenesis of genetic origin renal tubular dysgenesis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009970 MONDO:0021147 False renal tubular dysgenesis of genetic origin disorder of development or morphogenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009970 MONDO:0100191 False renal tubular dysgenesis of genetic origin inherited kidney disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009971 MONDO:0700081 False respiratory distress syndrome in premature infants newborn respiratory distress syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009972 MONDO:0003847 False respiratory underresponsiveness to hypoxia and hypercapnia hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009973 MONDO:0017855 False reticular dysgenesis T-B- severe combined immunodeficiency UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009973 MONDO:0031520 False reticular dysgenesis familial severe combined immunodeficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0009974 MONDO:0005071 False familial hemophagocytic lymphohistiocytosis type 1 nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0009975 MONDO:0000612 False reticulum cell sarcoma lymphatic system cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0009975 MONDO:0005089 False reticulum cell sarcoma sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0009975 MONDO:0020082 False reticulum cell sarcoma dendritic cell tumor UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009976 MONDO:0003847 False retinal degeneration and epilepsy hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009978 MONDO:0019118 False retinal degeneration-nanophthalmos-glaucoma syndrome inherited retinal dystrophy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009979 MONDO:0018973 False reticular dystrophy of the retinal pigment epithelium patterned dystrophy of the retinal pigment epithelium UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009980 MONDO:0003847 False retinal telangiectasia and hypogammaglobulinemia hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009982 MONDO:0003847 False retinitis pigmentosa inversa with deafness hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009983 MONDO:0002254 False retinitis pigmentosa-intellectual disability-deafness-hypogenitalism syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009983 MONDO:0003847 False retinitis pigmentosa-intellectual disability-deafness-hypogenitalism syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009984 MONDO:0019200 False late-adult onset retinitis pigmentosa retinitis pigmentosa UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS MONDO:0009985 MONDO:0015126 False retinohepatoendocrinologic syndrome polyendocrinopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009986 MONDO:0003847 False retinopathy, pigmentary, and intellectual disability hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009987 MONDO:0019200 False autosomal recessive pericentral pigmentary retinopathy retinitis pigmentosa UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS MONDO:0009988 MONDO:0004579 False retinoschisis of fovea retinoschisis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009988 MONDO:0019118 False retinoschisis of fovea inherited retinal dystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009990 MONDO:0019118 False Revesz syndrome inherited retinal dystrophy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0009992 MONDO:0000866 False myoglobinuria, acute recurrent, autosomal recessive hereditary myoglobinuria UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009992 MONDO:0020504 False myoglobinuria, acute recurrent, autosomal recessive hereditary recurrent myoglobinuria UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009992 MONDO:0020683 False myoglobinuria, acute recurrent, autosomal recessive acute disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009992 MONDO:0700223 False myoglobinuria, acute recurrent, autosomal recessive hereditary skeletal muscle disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009993 MONDO:0003847 False embryonal rhabdomyosarcoma hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0009996 MONDO:0018230 False rhizomelic syndrome, Urbach type skeletal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009998 MONDO:0015161 False Richieri Costa-Pereira syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009998 MONDO:0018230 False Richieri Costa-Pereira syndrome skeletal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009999 MONDO:0006025 False autosomal recessive Robinow syndrome autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0010000 MONDO:0003847 False rod-cone dystrophy, sensorineural deafness, and Fanconi-type renal dysfunction hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010001 MONDO:0005328 False ectodermal dysplasia-blindness syndrome eye disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010002 MONDO:0015356 False Rothmund-Thomson syndrome hereditary neoplastic syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010001 MONDO:0019287 False ectodermal dysplasia-blindness syndrome ectodermal dysplasia syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0010002 MONDO:0015951 False Rothmund-Thomson syndrome hereditary photodermatosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010002 MONDO:0021147 False Rothmund-Thomson syndrome disorder of development or morphogenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010002 MONDO:0100137 False Rothmund-Thomson syndrome telomere syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010003 MONDO:0003847 False Rowley-Rosenberg syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010004 MONDO:0000426 False EEC syndrome autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0010004 MONDO:0018234 False EEC syndrome dysostosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0010004 MONDO:0019054 False EEC syndrome congenital limb malformation UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010004 MONDO:0024458 False EEC syndrome disorder of visual system UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010005 MONDO:0017351 False saccharopinuria inborn disorder of lysine and hydroxylysine metabolism UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010006 MONDO:0004884 False Sandhoff disease eye degenerative disorder UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0010006 MONDO:0020127 False Sandhoff disease hereditary peripheral neuropathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010006 MONDO:0020143 False Sandhoff disease cerebral lipidosis with dementia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0010007 MONDO:0015159 False microbrachycephaly-ptosis-cleft lip syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010008 MONDO:0019239 False sarcosinemia inborn disorder of serine family metabolism UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010008 MONDO:0045020 False sarcosinemia glycine metabolism disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010008 MONDO:0100477 False sarcosinemia disorder of methylamine metabolism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010010 MONDO:0000508 False Schinzel-Giedion syndrome syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010010 MONDO:0002320 False Schinzel-Giedion syndrome congenital nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010010 MONDO:0015160 False Schinzel-Giedion syndrome multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010011 MONDO:0002320 False schizencephaly congenital nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010010 MONDO:0019287 False Schinzel-Giedion syndrome ectodermal dysplasia syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0010011 MONDO:0017103 False schizencephaly encephaloclastic disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010013 MONDO:0005516 False schneckenbecken dysplasia osteochondrodysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0010013 MONDO:0015286 False schneckenbecken dysplasia congenital disorder of glycosylation UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0010013 MONDO:0800080 False schneckenbecken dysplasia severe spondylodysplastic dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010014 MONDO:0018230 False craniometadiaphyseal dysplasia, wormian bone type skeletal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010015 MONDO:0019629 False anterior segment dysgenesis 7 sclerocornea UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0010017 MONDO:0015531 False sea-blue histiocyte syndrome non-Langerhans cell histiocytosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0010017 MONDO:0015905 False sea-blue histiocyte syndrome syndromic dyslipidemia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010017 MONDO:0019255 False sea-blue histiocyte syndrome sphingolipidosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0010018 MONDO:0003847 False second metatarsal-metacarpal syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010019 MONDO:0001341 False secretory component deficiency selective IgA deficiency disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010020 MONDO:0018883 False congenital generalized lipodystrophy type 2 Berardinelli-Seip congenital lipodystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010021 MONDO:0016027 False seizures, benign familial neonatal, autosomal recessive benign neonatal seizures UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0010022 MONDO:0003847 False senile plaque formation hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010025 MONDO:0003847 False short stature-obesity syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010026 MONDO:0002254 False SHORT syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0010026 MONDO:0005328 False SHORT syndrome eye disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0010026 MONDO:0015160 False SHORT syndrome multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010026 MONDO:0015161 False SHORT syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010026 MONDO:0015327 False SHORT syndrome developmental anomaly of metabolic origin UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010026 MONDO:0020087 False SHORT syndrome hereditary lipodystrophy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010027 MONDO:0017706 False free sialic acid storage disease, infantile form disorder of carbohydrate transmembrane transport and absorption UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010027 MONDO:0019366 False free sialic acid storage disease, infantile form free sialic acid storage disease UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010027 MONDO:0800088 False free sialic acid storage disease, infantile form lysosomal storage disease with skeletal involvement UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010028 MONDO:0017736 False sialuria disorder of sialic acid metabolism UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010028 MONDO:0019366 False sialuria free sialic acid storage disease UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010029 MONDO:0018677 False situs inversus visceral heterotaxy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0010030 MONDO:0000586 False Sjogren syndrome autoimmune disorder of exocrine system UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0010030 MONDO:0001142 False Sjogren syndrome salivary gland disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0010030 MONDO:0002254 False Sjogren syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0010030 MONDO:0024625 False Sjogren syndrome disorder of lacrimal gland UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010031 MONDO:0002051 False Sjogren-Larsson syndrome integumentary system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0010031 MONDO:0004884 False Sjogren-Larsson syndrome eye degenerative disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0010031 MONDO:0006025 False Sjogren-Larsson syndrome autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0010031 MONDO:0015905 False Sjogren-Larsson syndrome syndromic dyslipidemia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010031 MONDO:0018117 False Sjogren-Larsson syndrome disorder of phospholipids, sphingolipids and fatty acids biosynthesis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010031 MONDO:0019046 False Sjogren-Larsson syndrome leukodystrophy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS MONDO:0010032 MONDO:0003847 False Sjogren-Larsson-like ichthyosis without CNS or eye involvement hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010033 MONDO:0019347 False generalized peeling skin syndrome peeling skin syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010035 MONDO:0005328 False Smith-Lemli-Opitz syndrome eye disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0010035 MONDO:0015159 False Smith-Lemli-Opitz syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010035 MONDO:0015905 False Smith-Lemli-Opitz syndrome syndromic dyslipidemia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010035 MONDO:0045017 False Smith-Lemli-Opitz syndrome cholesterol biosynthetic process disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010036 MONDO:0015170 False congenital secretory sodium diarrhea 3 congenital sodium diarrhea UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010036 MONDO:0045032 False congenital secretory sodium diarrhea 3 congenital secretory diarrhea UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010037 MONDO:0003847 False sodium-potassium-ATPase activity of red cell hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010038 MONDO:0003847 False growth delay due to insulin-like growth factor I resistance hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010038 MONDO:0015892 False growth delay due to insulin-like growth factor I resistance growth hormone insensitivity syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010039 MONDO:0015159 False congenital heart defect-round face-developmental delay syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010040 MONDO:0003847 False ataxia, spastic, childhood-onset, autosomal recessive, with optic atrophy and intellectual disability hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010041 MONDO:0015244 False Charlevoix-Saguenay spastic ataxia autosomal recessive cerebellar ataxia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS +MONDO:0010041 MONDO:0017847 False Charlevoix-Saguenay spastic ataxia autosomal recessive spastic ataxia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010042 MONDO:0003847 False spastic diplegia and intellectual disability hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010043 MONDO:0015087 False hereditary spastic paraplegia 17 autosomal dominant complex spastic paraplegia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010043 MONDO:0015362 False hereditary spastic paraplegia 17 neuronopathy, distal hereditary motor, autosomal dominant UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS +MONDO:0010044 MONDO:0015150 False hereditary spastic paraplegia 15 complex hereditary spastic paraplegia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010046 MONDO:0015150 False hereditary spastic paraplegia 23 complex hereditary spastic paraplegia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010048 MONDO:0003847 False spastic paraplegia with myoclonic epilepsy hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010049 MONDO:0015150 False spastic paraplegia-glaucoma-intellectual disability syndrome complex hereditary spastic paraplegia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010051 MONDO:0002254 False spastic tetraplegia-retinitis pigmentosa-intellectual disability syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010051 MONDO:0003847 False spastic tetraplegia-retinitis pigmentosa-intellectual disability syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010053 MONDO:0019350 False hereditary spherocytosis type 3 hereditary spherocytosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0010054 MONDO:0003847 False spinal muscular atrophy with intellectual disability hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010055 MONDO:0003847 False spinal muscular atrophy with microcephaly and mental subnormality hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010056 MONDO:0019079 False spinal muscular atrophy, type IV proximal spinal muscular atrophy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010057 MONDO:0001516 False spinal muscular atrophy, Ryukyuan type spinal muscular atrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010058 MONDO:0001516 False scapuloperoneal spinal muscular atrophy, autosomal recessive spinal muscular atrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010058 MONDO:0006025 False scapuloperoneal spinal muscular atrophy, autosomal recessive autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010058 MONDO:0024257 False scapuloperoneal spinal muscular atrophy, autosomal recessive hereditary motor neuron disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010060 MONDO:0020046 False mitochondrial DNA depletion syndrome 7 (hepatocerebral type) autosomal recessive degenerative and progressive cerebellar ataxia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010060 MONDO:0100512 False mitochondrial DNA depletion syndrome 7 (hepatocerebral type) mitochondrial DNA depletion syndrome, hepatocerebral form UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010061 MONDO:0020047 False autosomal recessive cerebellar ataxia-blindness-deafness syndrome autosomal recessive syndromic cerebellar ataxia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010062 MONDO:0100309 False spinocerebellar ataxia-dysmorphism syndrome hereditary ataxia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010063 MONDO:0002254 False corneal-cerebellar syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010063 MONDO:0004884 False corneal-cerebellar syndrome eye degenerative disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010064 MONDO:0002254 False spastic ataxia-corneal dystrophy syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010064 MONDO:0017847 False spastic ataxia-corneal dystrophy syndrome autosomal recessive spastic ataxia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010064 MONDO:0024458 False spastic ataxia-corneal dystrophy syndrome disorder of visual system UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010065 MONDO:0008458 False spinocerebellar degeneration with slow eye movements spinocerebellar ataxia type 2 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0010066 MONDO:0003778 False familial isolated congenital asplenia inborn error of immunity UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010066 MONDO:0021147 False familial isolated congenital asplenia disorder of development or morphogenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010067 MONDO:0003847 False splenoportal vascular anomalies hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010068 MONDO:0100510 False spondyloepimetaphyseal dysplasia, sponastrime type spondyloepimetaphyseal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0010069 MONDO:0002254 False spondylocostal dysostosis-anal and genitourinary malformations syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010069 MONDO:0003847 False spondylocostal dysostosis-anal and genitourinary malformations syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010069 MONDO:0005039 False spondylocostal dysostosis-anal and genitourinary malformations syndrome reproductive system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010069 MONDO:0018234 False spondylocostal dysostosis-anal and genitourinary malformations syndrome dysostosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010070 MONDO:0018662 False brachyolmia type 1, Hobaek type autosomal recessive brachyolmia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010072 MONDO:0006025 False spondyloepiphyseal dysplasia tarda, autosomal recessive autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0010072 MONDO:0019667 False spondyloepiphyseal dysplasia tarda, autosomal recessive spondyloepiphyseal dysplasia tarda UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0010073 MONDO:0019667 False spondyloepiphyseal dysplasia tarda, Kohn type spondyloepiphyseal dysplasia tarda UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0010074 MONDO:0018662 False brachyolmia type 1, toledo type autosomal recessive brachyolmia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010076 MONDO:0100510 False spondyloepimetaphyseal dysplasia, Irapa type spondyloepimetaphyseal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010077 MONDO:0100510 False spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome spondyloepimetaphyseal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0010078 MONDO:0016761 False spondyloperipheral dysplasia spondyloepiphyseal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0010078 MONDO:0022800 False spondyloperipheral dysplasia type 2 collagenopathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010079 MONDO:0017686 False Canavan disease inborn aminoacylase deficiency UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010080 MONDO:0002254 False familial infantile bilateral striatal necrosis syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010080 MONDO:0015518 False familial infantile bilateral striatal necrosis infantile bilateral striatal necrosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010081 MONDO:0003847 False subaortic stenosis, membranous hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010081 MONDO:0005561 False subaortic stenosis, membranous aortic disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010081 MONDO:0021147 False subaortic stenosis, membranous disorder of development or morphogenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010082 MONDO:0002254 False subaortic stenosis-short stature syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010083 MONDO:0000698 False succinic semialdehyde dehydrogenase deficiency gamma-amino butyric acid metabolism disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0010084 MONDO:0003847 False sucrosuria, hiatus hernia and intellectual disability hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010085 MONDO:0002562 False Schilder disease demyelinating disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010087 MONDO:0019054 False Sugarman brachydactyly congenital limb malformation UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010088 MONDO:0002051 False mucosulfatidosis integumentary system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0010088 MONDO:0015327 False mucosulfatidosis developmental anomaly of metabolic origin UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010088 MONDO:0019255 False mucosulfatidosis sphingolipidosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0010088 MONDO:0800088 False mucosulfatidosis lysosomal storage disease with skeletal involvement UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010089 MONDO:0019358 False isolated sulfite oxidase deficiency encephalopathy due to sulfite oxidase deficiency UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010090 MONDO:0015338 False Summitt syndrome syndromic craniosynostosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010092 MONDO:0015159 False Filippi syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010092 MONDO:0800066 False Filippi syndrome polydactyly-syndactyly-triphalangism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010093 MONDO:0003847 False syndesmodysplasic dwarfism hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010094 MONDO:0005497 False spondylocarpotarsal synostosis syndrome bone development disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0010094 MONDO:0019690 False spondylocarpotarsal synostosis syndrome filamin-related bone disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010094 MONDO:0019694 False spondylocarpotarsal synostosis syndrome spondylodysplastic dysplasia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010095 MONDO:0100309 False ataxia-tapetoretinal degeneration syndrome hereditary ataxia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010096 MONDO:0003847 False tardive dyskinesia hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010097 MONDO:0002242 False Tatsumi factor deficiency coagulation protein disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010097 MONDO:0021181 False Tatsumi factor deficiency inherited blood coagulation disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010098 MONDO:0003847 False taurodontism hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010098 MONDO:0006999 False taurodontism tooth disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010099 MONDO:0017720 False Tay-Sachs disease AB variant GM2 gangliosidosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0010100 MONDO:0004884 False Tay-Sachs disease eye degenerative disorder UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0010100 MONDO:0020127 False Tay-Sachs disease hereditary peripheral neuropathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010100 MONDO:0020143 False Tay-Sachs disease cerebral lipidosis with dementia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0010101 MONDO:0005172 False Teebi-Shaltout syndrome skeletal system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010101 MONDO:0019287 False Teebi-Shaltout syndrome ectodermal dysplasia syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0010102 MONDO:0019287 False taurodontia-absent teeth-sparse hair syndrome ectodermal dysplasia syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0010103 MONDO:0003847 False teeth, fused hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010104 MONDO:0021147 False non-eruption of teeth-maxillary hypoplasia-genu valgum syndrome disorder of development or morphogenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010105 MONDO:0004015 False teratoma, pineal pineal region teratoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010106 MONDO:0003847 False testes, rudimentary hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010108 MONDO:0018202 False testicular germ cell tumor gonadal germ cell tumor UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010109 MONDO:0003847 False tetraamelia with ectodermal dysplasia and lacrimal duct abnormalities hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010110 MONDO:0003847 False tetraamelia-multiple malformations syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0010110 MONDO:0015161 False tetraamelia-multiple malformations syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010110 MONDO:0018234 False tetraamelia-multiple malformations syndrome dysostosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0010110 MONDO:0019054 False tetraamelia-multiple malformations syndrome congenital limb malformation UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010111 MONDO:0019287 False odontotrichomelic syndrome ectodermal dysplasia syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0010112 MONDO:0003847 False thalamic degeneration, symmetric infantile hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010114 MONDO:0017042 False thanatophoric dysplasia, Glasgow variant thanatophoric dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010115 MONDO:0015929 False thoracic dysplasia-hydrocephalus syndrome thoracic malformation UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010116 MONDO:0015929 False thoracomelic dysplasia thoracic malformation UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010116 MONDO:0019691 False thoracomelic dysplasia short rib dysplasia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010117 MONDO:0800063 False 3M syndrome 1 primordial dwarfism and slender bone disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010118 MONDO:0006025 False inherited threoninemia autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010118 MONDO:0019052 False inherited threoninemia inborn errors of metabolism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010121 MONDO:0009332 False thrombocytopenia-absent radius syndrome congenital hematological disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010121 MONDO:0018234 False thrombocytopenia-absent radius syndrome dysostosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0010121 MONDO:0018795 False thrombocytopenia-absent radius syndrome syndromic constitutional thrombocytopenia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010121 MONDO:0019054 False thrombocytopenia-absent radius syndrome congenital limb malformation UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010121 MONDO:0019713 False thrombocytopenia-absent radius syndrome non-syndromic limb reduction defect UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010122 MONDO:0000009 False congenital thrombotic thrombocytopenic purpura inherited bleeding disorder, platelet-type UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0010122 MONDO:0009332 False congenital thrombotic thrombocytopenic purpura congenital hematological disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010122 MONDO:0021181 False congenital thrombotic thrombocytopenic purpura inherited blood coagulation disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010122 MONDO:0100241 False congenital thrombotic thrombocytopenic purpura inherited thrombocytopenia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING -MONDO:0010123 MONDO:0002254 False absent thumb-short stature-immunodeficiency syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010123 MONDO:0003847 False absent thumb-short stature-immunodeficiency syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010124 MONDO:0003847 False thumb, distal hyperextensibility of hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010125 MONDO:0015159 False upper limb defect-eye and ear abnormalities syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010126 MONDO:0003847 False thymic aplasia with fetal death hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010127 MONDO:0003847 False thymoma, familial hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010127 MONDO:0006456 False thymoma, familial thymoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010128 MONDO:0002254 False thyrocerebrorenal syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010129 MONDO:0015161 False thymic-renal-anal-lung dysplasia multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010130 MONDO:0018381 False dihydropyrimidine dehydrogenase deficiency osteochondrosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0010130 MONDO:0018383 False dihydropyrimidine dehydrogenase deficiency osteonecrosis of genetic origin UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010130 MONDO:0019238 False dihydropyrimidine dehydrogenase deficiency inborn disorder of pyrimidine metabolism UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0010131 MONDO:0009043 False thyroid hormone resistance, generalized, autosomal recessive generalized resistance to thyroid hormone UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010132 MONDO:0005066 False familial thyroid dyshormonogenesis metabolic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0010133 MONDO:0010132 False thyroid dyshormonogenesis 2A familial thyroid dyshormonogenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0010133 MONDO:0045046 False thyroid dyshormonogenesis 2A inherited thyroid metabolism disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010134 MONDO:0002254 False Pendred syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0010134 MONDO:0006025 False Pendred syndrome autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0010135 MONDO:0010132 False thyroid dyshormonogenesis 3 familial thyroid dyshormonogenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0010135 MONDO:0045046 False thyroid dyshormonogenesis 3 inherited thyroid metabolism disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010136 MONDO:0010132 False thyroid dyshormonogenesis 4 familial thyroid dyshormonogenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0010136 MONDO:0045046 False thyroid dyshormonogenesis 4 inherited thyroid metabolism disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010137 MONDO:0010132 False thyroid dyshormonogenesis 5 familial thyroid dyshormonogenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0010137 MONDO:0045046 False thyroid dyshormonogenesis 5 inherited thyroid metabolism disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010138 MONDO:0005364 False thyrotoxicosis Graves disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0010139 MONDO:0016410 False isolated thyroid-stimulating hormone deficiency central congenital hypothyroidism UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010139 MONDO:0019824 False isolated thyroid-stimulating hormone deficiency non-acquired pituitary hormone deficiency UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010140 MONDO:0003847 False isolated thyrotropin-releasing hormone deficiency hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010141 MONDO:0003847 False tiglic acidemia hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010144 MONDO:0016240 False tibial hemimelia hemimelia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010145 MONDO:0003847 False tibia, absence of, with congenital deafness hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010146 MONDO:0005093 False Kerion celsi skin disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010147 MONDO:0003847 False tongue, pigmented fungiform papillae of hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010148 MONDO:0005087 False Mounier-Kuhn syndrome respiratory system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010149 MONDO:0000424 False transcobalamin II deficiency inborn vitamin B12 deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0010149 MONDO:0005046 False transcobalamin II deficiency immune system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0010149 MONDO:0016624 False transcobalamin II deficiency inherited deficiency anemia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010149 MONDO:0019220 False transcobalamin II deficiency inborn disorder of cobalamin metabolism and transport UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010151 MONDO:0016790 False tricarboxylic acid cycle, defect of tricarboxylic acid cycle disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010152 MONDO:0019287 False trichomegaly-retina pigmentary degeneration-dwarfism syndrome ectodermal dysplasia syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS +MONDO:0010153 MONDO:0019287 False trichoodontoonychial dysplasia ectodermal dysplasia syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0010154 MONDO:0015161 False trigonocephaly-bifid nose-acral anomalies syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010155 MONDO:0015611 False Dorfman-Chanarin disease neutral lipid storage disease UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010156 MONDO:0015150 False Troyer syndrome complex hereditary spastic paraplegia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010157 MONDO:0003847 False Tryptophanuria with dwarfism hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010158 MONDO:0003847 False T-substance anomaly hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010159 MONDO:0005071 False mismatch repair cancer syndrome 1 nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010160 MONDO:0005328 False tyrosinemia type II eye disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0010160 MONDO:0017672 False tyrosinemia type II focal palmoplantar keratoderma UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010163 MONDO:0003847 False Tyrosinosis hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010164 MONDO:0018234 False phocomelia, Schinzel type dysostosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0010164 MONDO:0019054 False phocomelia, Schinzel type congenital limb malformation UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010164 MONDO:0019713 False phocomelia, Schinzel type non-syndromic limb reduction defect UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010165 MONDO:0003847 False ulna hypoplasia-intellectual disability syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010165 MONDO:0018234 False ulna hypoplasia-intellectual disability syndrome dysostosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010165 MONDO:0019054 False ulna hypoplasia-intellectual disability syndrome congenital limb malformation UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010166 MONDO:0003847 False ulnar agenesis and endocardial fibroelastosis hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010167 MONDO:0019228 False urocanic aciduria inborn disorder of histidine metabolism UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0010169 MONDO:0016484 False Usher syndrome type 2A Usher syndrome type 2 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0010170 MONDO:0016485 False Usher syndrome type 3A Usher syndrome type 3 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0010171 MONDO:0010168 False Usher syndrome type 1C Usher syndrome type 1 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0010172 MONDO:0002254 False VACTERL with hydrocephalus syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010172 MONDO:0003847 False VACTERL with hydrocephalus hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010173 MONDO:0017771 False Mayer-Rokitansky-Kuster-Hauser syndrome type 1 Mayer-Rokitansky-Kuster-Hauser syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0010174 MONDO:0003847 False Valinemia hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010175 MONDO:0003847 False van Bogaert-Hozay syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010176 MONDO:0013824 False orofaciodigital syndrome type 6 Joubert syndrome 17 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS +MONDO:0010176 MONDO:0020022 False orofaciodigital syndrome type 6 central nervous system malformation UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010177 MONDO:0003847 False vascular hyalinosis hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010179 MONDO:0003847 False isolated right ventricular hypoplasia hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010179 MONDO:0020291 False isolated right ventricular hypoplasia hypoplastic right heart syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010180 MONDO:0000359 False autosomal recessive spondylocostal dysostosis spondylocostal dysostosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010180 MONDO:0006025 False autosomal recessive spondylocostal dysostosis autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010180 MONDO:0017747 False autosomal recessive spondylocostal dysostosis disorder of fucoglycosan synthesis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010181 MONDO:0021189 False oculogastrointestinal muscular dystrophy intestinal motility disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010181 MONDO:0024458 False oculogastrointestinal muscular dystrophy disorder of visual system UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010182 MONDO:0007272 False hypercarotenemia and vitamin A deficiency, autosomal recessive hereditary hypercarotenemia and vitamin A deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0010184 MONDO:0020127 False methylmalonic aciduria and homocystinuria type cblC hereditary peripheral neuropathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010185 MONDO:0100463 False methylmalonic aciduria and homocystinuria type cblD methylmalonic aciduria and/or homocystinuria, cblD type UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010186 MONDO:0019642 False vitamin D-dependent rickets, type 2A vitamin D-dependent rickets, type 2 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010186 MONDO:0800096 False vitamin D-dependent rickets, type 2A abnormal mineralization disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010188 MONDO:0005528 False familial isolated deficiency of vitamin E inborn vitamin metabolic disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0010188 MONDO:0020044 False familial isolated deficiency of vitamin E autosomal recessive metabolic cerebellar ataxia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010188 MONDO:0020127 False familial isolated deficiency of vitamin E hereditary peripheral neuropathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010189 MONDO:0003847 False vitiligo, progressive, with intellectual disability and urethral duplication hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010190 MONDO:0016759 False pontocerebellar hypoplasia type 2A pontocerebellar hypoplasia type 2 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0010191 MONDO:0019565 False von Willebrand disease 3 hereditary von Willebrand disease UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0010192 MONDO:0019518 False Waardenburg syndrome type 4A Waardenburg-Shah syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010198 MONDO:0002254 False Wernicke-Korsakoff syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0010193 MONDO:0015159 False Weaver syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010193 MONDO:0018230 False Weaver syndrome skeletal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010193 MONDO:0019716 False Weaver syndrome overgrowth syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010196 MONDO:0006025 False Werner syndrome autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0010196 MONDO:0015333 False Werner syndrome progeroid syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0010197 MONDO:0008675 False whistling face syndrome, recessive form Freeman-Sheldon syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS +MONDO:0010198 MONDO:0006873 False Wernicke-Korsakoff syndrome nutritional deficiency disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0010199 MONDO:0005267 False white forelock with malformations heart disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010199 MONDO:0015161 False white forelock with malformations multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010200 MONDO:0004689 False Wilson disease inborn metal metabolism disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0010200 MONDO:0017762 False Wilson disease disorder of copper metabolism UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010201 MONDO:0018298 False Winchester syndrome multicentric osteolysis-nodulosis-arthropathy spectrum UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010203 MONDO:0000508 False intellectual disability, Wolff type syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010203 MONDO:0002320 False intellectual disability, Wolff type congenital nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010203 MONDO:0015159 False intellectual disability, Wolff type multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010206 MONDO:0008686 False hypotrichosis 8 isolated familial wooly hair disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0010206 MONDO:0018914 False hypotrichosis 8 hypotrichosis simplex UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010207 MONDO:0002254 False wooly hair-hypotrichosis-everted lower lip-outstanding ears syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010208 MONDO:0018163 False wrinkly skin syndrome autosomal recessive cutis laxa type 2A UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS MONDO:0010212 MONDO:0016354 False xeroderma pigmentosum group D xeroderma pigmentosum-Cockayne syndrome complex UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010215 MONDO:0016354 False xeroderma pigmentosum group F xeroderma pigmentosum-Cockayne syndrome complex UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010216 MONDO:0008926 False xeroderma pigmentosum group G COFS syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS MONDO:0010216 MONDO:0016354 False xeroderma pigmentosum group G xeroderma pigmentosum-Cockayne syndrome complex UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010217 MONDO:0003847 False de Sanctis-Cacchione syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0010218 MONDO:0100249 False 46,XX sex reversal 2 46,XX testicular disorder of sex development UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0010219 MONDO:0003847 False xylosidase deficiency hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010220 MONDO:0005087 False Young syndrome respiratory system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010221 MONDO:0005267 False CHIME syndrome heart disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0010221 MONDO:0015159 False CHIME syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010221 MONDO:0015327 False CHIME syndrome developmental anomaly of metabolic origin UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010221 MONDO:0015905 False CHIME syndrome syndromic dyslipidemia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010221 MONDO:0017748 False CHIME syndrome inborn disorder of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010221 MONDO:0019287 False CHIME syndrome ectodermal dysplasia syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS +MONDO:0010221 MONDO:0024458 False CHIME syndrome disorder of visual system UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010222 MONDO:0000425 False X-linked Opitz G/BBB syndrome X-linked disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010222 MONDO:0017138 False X-linked Opitz G/BBB syndrome Opitz G/BBB syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0010223 MONDO:0010622 False ichthyosis, X-linked, without steroid sulfatase deficiency recessive X-linked ichthyosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0010224 MONDO:0002254 False corpus callosum agenesis-abnormal genitalia syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0010224 MONDO:0003847 False corpus callosum agenesis-abnormal genitalia syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0010226 MONDO:0016674 False 46,XY sex reversal 2 46,XY partial gonadal dysgenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010227 MONDO:0100437 False retinitis pigmentosa 3 RPGR-related retinopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010228 MONDO:0019586 False hearing loss, X-linked 3 X-linked nonsyndromic hearing loss UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0010229 MONDO:0019080 False alopecia, congenital alopecia totalis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010232 MONDO:0003847 False intestinal pseudoobstruction, neuronal, chronic idiopathic, X-linked hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0010232 MONDO:0014097 False intestinal pseudoobstruction, neuronal, chronic idiopathic, X-linked congenital short bowel syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010232 MONDO:0017574 False intestinal pseudoobstruction, neuronal, chronic idiopathic, X-linked chronic intestinal pseudoobstruction UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010232 MONDO:0700007 False intestinal pseudoobstruction, neuronal, chronic idiopathic, X-linked idiopathic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010237 MONDO:0002320 False X-linked intellectual disability-plagiocephaly syndrome congenital nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010237 MONDO:0015159 False X-linked intellectual disability-plagiocephaly syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010237 MONDO:0015338 False X-linked intellectual disability-plagiocephaly syndrome syndromic craniosynostosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010237 MONDO:0020119 False X-linked intellectual disability-plagiocephaly syndrome X-linked syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0010238 MONDO:0019586 False hearing loss, X-linked 4 X-linked nonsyndromic hearing loss UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0010239 MONDO:0015146 False lissencephaly type 1 due to doublecortin gene mutation classic lissencephaly UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010239 MONDO:0020491 False lissencephaly type 1 due to doublecortin gene mutation subcortical band heterotopia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0010241 MONDO:0044749 False congenital stationary night blindness 2A X-linked congenital stationary night blindness UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010241 MONDO:0700243 False congenital stationary night blindness 2A CACNA1F-related retinopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010242 MONDO:0008824 False fetal akinesia syndrome, X-linked fetal akinesia deformation sequence UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS MONDO:0010243 MONDO:0000425 False X-linked immunoneurologic disorder X-linked disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010243 MONDO:0003778 False X-linked immunoneurologic disorder inborn error of immunity UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010243 MONDO:0005071 False X-linked immunoneurologic disorder nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010244 MONDO:0003847 False CGF1 hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010245 MONDO:0021155 False X-linked cone-rod dystrophy 2 X-linked cone-rod dystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010246 MONDO:0016160 False developmental and epileptic encephalopathy, 9 X-linked intellectual disability-epilepsy syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010246 MONDO:0100148 False developmental and epileptic encephalopathy, 9 X-linked complex neurodevelopmental disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010247 MONDO:0018544 False X-linked cerebral adrenoleukodystrophy adrenoleukodystrophy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010248 MONDO:0016761 False X-linked spondyloepimetaphyseal dysplasia spondyloepiphyseal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0010252 MONDO:0100195 False intellectual disability, X-linked, with panhypopituitarism X-linked intellectual disability with hypopituitarism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010255 MONDO:0020573 False diabetes mellitus, insulin-dependent, X-linked, susceptibility to inherited disease susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010257 MONDO:0023122 False prostate cancer, hereditary, X-linked 1 familial prostate carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0010260 MONDO:0003847 False arthrogryposis, congenital, lower limb, X-linked hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010262 MONDO:0003847 False hypotonia, congenital nystagmus, ataxia, and abnormal auditory brainstem responses hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010263 MONDO:0002254 False Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0010264 MONDO:0000425 False X-linked adrenal hypoplasia congenita X-linked disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0010264 MONDO:0002320 False X-linked adrenal hypoplasia congenita congenital nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0010264 MONDO:0016241 False X-linked adrenal hypoplasia congenita alternating hemiplegia of childhood UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS +MONDO:0010264 MONDO:0015129 False X-linked adrenal hypoplasia congenita chronic primary adrenal insufficiency UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS +MONDO:0010264 MONDO:0015770 False X-linked adrenal hypoplasia congenita congenital hypogonadotropic hypogonadism UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010265 MONDO:0003847 False Simpson-Golabi-Behmel syndrome type 2 hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0010265 MONDO:0010731 False Simpson-Golabi-Behmel syndrome type 2 Simpson-Golabi-Behmel syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010267 MONDO:0003847 False episodic muscle weakness, X-linked hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010268 MONDO:0000425 False X-linked lissencephaly with abnormal genitalia X-linked disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0010268 MONDO:0002254 False X-linked lissencephaly with abnormal genitalia syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0010269 MONDO:0004348 False Coats disease retinal telangiectasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0010269 MONDO:0020247 False Coats disease congenital vitreoretinal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010270 MONDO:0002320 False syndromic X-linked intellectual disability 7 congenital nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0010270 MONDO:0015159 False syndromic X-linked intellectual disability 7 multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010271 MONDO:0002254 False X-linked myotubular myopathy-abnormal genitalia syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010271 MONDO:0010683 False X-linked myotubular myopathy-abnormal genitalia syndrome X-linked myotubular myopathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0010271 MONDO:0017007 False X-linked myotubular myopathy-abnormal genitalia syndrome partial deletion of the long arm of chromosome X UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010271 MONDO:0020040 False X-linked myotubular myopathy-abnormal genitalia syndrome 46,XY disorder of sex development UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010273 MONDO:0004952 False lymphoma, Hodgkin, X-linked pseudoautosomal Hodgkins lymphoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010274 MONDO:0010108 False testicular germ cell tumor 1 testicular germ cell tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0010275 MONDO:0100510 False spondyloepimetaphyseal dysplasia, Bieganski type spondyloepimetaphyseal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010276 MONDO:0003847 False radioulnar synostosis, radial ray abnormalities, and severe malformations in the male hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010277 MONDO:0002320 False syndromic X-linked intellectual disability Shashi type congenital nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0010277 MONDO:0015159 False syndromic X-linked intellectual disability Shashi type multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010278 MONDO:0002254 False Christianson syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0010278 MONDO:0003847 False Christianson syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0010279 MONDO:0019690 False terminal osseous dysplasia-pigmentary defects syndrome filamin-related bone disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010279 MONDO:0019695 False terminal osseous dysplasia-pigmentary defects syndrome acromelic dysplasia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010280 MONDO:0000728 False ptosis, hereditary congenital 2 ptosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010281 MONDO:0017738 False Danon disease lysosomal glycogen storage disease UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010282 MONDO:0000070 False mycobacterium tuberculosis, susceptibility to, X-linked mycobacterium tuberculosis, susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010283 MONDO:0002320 False syndromic X-linked intellectual disability Lubs type congenital nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0010283 MONDO:0015159 False syndromic X-linked intellectual disability Lubs type multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010283 MONDO:0017010 False syndromic X-linked intellectual disability Lubs type partial duplication of the long arm of chromosome X UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010284 MONDO:0002254 False Armfield syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0010285 MONDO:0002320 False syndromic X-linked intellectual disability Abidi type congenital nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0010285 MONDO:0015159 False syndromic X-linked intellectual disability Abidi type multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010286 MONDO:0002320 False syndromic X-linked intellectual disability Siderius type congenital nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0010286 MONDO:0015159 False syndromic X-linked intellectual disability Siderius type multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010288 MONDO:0005495 False adrenomyodystrophy adrenal gland disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010292 MONDO:0003847 False Uruguay Faciocardiomusculoskeletal syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0010292 MONDO:0800462 False Uruguay Faciocardiomusculoskeletal syndrome FHL1-related myopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010293 MONDO:0003778 False ectodermal dysplasia and immune deficiency inborn error of immunity UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0010293 MONDO:0016535 False ectodermal dysplasia and immune deficiency hypohidrotic ectodermal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0010294 MONDO:0000425 False X-linked severe congenital neutropenia X-linked disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0010295 MONDO:0017198 False anhidrotic ectodermal dysplasia-immunodeficiency-osteopetrosis-lymphedema syndrome osteopetrosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010295 MONDO:0019287 False anhidrotic ectodermal dysplasia-immunodeficiency-osteopetrosis-lymphedema syndrome ectodermal dysplasia syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010295 MONDO:0019313 False anhidrotic ectodermal dysplasia-immunodeficiency-osteopetrosis-lymphedema syndrome lymphatic malformation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010295 MONDO:0100162 False anhidrotic ectodermal dysplasia-immunodeficiency-osteopetrosis-lymphedema syndrome IKBKG-related immunodeficiency with or without ectodermal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010298 MONDO:0002254 False Lesch-Nyhan syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0010298 MONDO:0016088 False Lesch-Nyhan syndrome hypoxanthine-guanine phosphoribosyltransferase deficiency UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010299 MONDO:0016088 False hypoxanthine guanine phosphoribosyltransferase partial deficiency hypoxanthine-guanine phosphoribosyltransferase deficiency UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010302 MONDO:0005328 False Ito hypomelanosis eye disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0010302 MONDO:0019287 False Ito hypomelanosis ectodermal dysplasia syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS MONDO:0010302 MONDO:0019290 False Ito hypomelanosis hypopigmentation of the skin UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010304 MONDO:0000162 False Graves disease, susceptibility to, X-linked 1 autoimmune thyroid disease, susceptibility to UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010305 MONDO:0002320 False creatine transporter deficiency congenital nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0010305 MONDO:0015159 False creatine transporter deficiency multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010305 MONDO:0015327 False creatine transporter deficiency developmental anomaly of metabolic origin UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010306 MONDO:0002320 False X-linked intellectual disability, Cabezas type congenital nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0010306 MONDO:0015159 False X-linked intellectual disability, Cabezas type multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010308 MONDO:0100241 False thrombocytopenia, X-linked, with or without dyserythropoietic anemia inherited thrombocytopenia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0010310 MONDO:0017198 False osteopathia striata with cranial sclerosis osteopetrosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0010312 MONDO:0003847 False radial ray deficiency, X-linked hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010314 MONDO:0020340 False polymicrogyria, bilateral perisylvian, X-linked bilateral perisylvian polymicrogyria UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010315 MONDO:0031520 False T-B+ severe combined immunodeficiency due to gamma chain deficiency familial severe combined immunodeficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0010315 MONDO:0044200 False T-B+ severe combined immunodeficiency due to gamma chain deficiency T-B+ severe combined immunodeficiency UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010319 MONDO:0016160 False syndromic X-linked intellectual disability Hedera type X-linked intellectual disability-epilepsy syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010319 MONDO:0100146 False syndromic X-linked intellectual disability Hedera type ATP6AP2-related disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010323 MONDO:0002254 False Atkin-Flaitz syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010327 MONDO:0044970 False HSD10 mitochondrial disease mitochondrial disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010327 MONDO:0004069 False HSD10 mitochondrial disease inborn mitochondrial metabolism disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0010327 MONDO:0005071 False HSD10 mitochondrial disease nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0010328 MONDO:0002254 False alpha-thalassemia-myelodysplastic syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0010328 MONDO:0003847 False alpha-thalassemia-myelodysplastic syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0010328 MONDO:0005570 False alpha-thalassemia-myelodysplastic syndrome hematologic disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0010331 MONDO:0020573 False coronary heart disease, susceptibility to, 3 inherited disease susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010332 MONDO:0002320 False X-linked intellectual disability-cubitus valgus-dysmorphism syndrome congenital nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010332 MONDO:0015159 False X-linked intellectual disability-cubitus valgus-dysmorphism syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010332 MONDO:0020119 False X-linked intellectual disability-cubitus valgus-dysmorphism syndrome X-linked syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0010333 MONDO:0021147 False corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome disorder of development or morphogenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010334 MONDO:0000761 False severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome syndrome caused by partial chromosomal deletion UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0010334 MONDO:0044807 False severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome inherited dystonia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0010335 MONDO:0021155 False X-linked cone-rod dystrophy 3 X-linked cone-rod dystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010335 MONDO:0700243 False X-linked cone-rod dystrophy 3 CACNA1F-related retinopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010337 MONDO:0020022 False X-linked intellectual disability-cerebellar hypoplasia syndrome central nervous system malformation UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010338 MONDO:0000425 False X-linked distal spinal muscular atrophy type 3 X-linked disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0010338 MONDO:0001516 False X-linked distal spinal muscular atrophy type 3 spinal muscular atrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0010338 MONDO:0018894 False X-linked distal spinal muscular atrophy type 3 distal hereditary motor neuropathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010339 MONDO:0020119 False epilepsy, X-linked 1, with variable learning disabilities and behavior disorders X-linked syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS +MONDO:0010339 MONDO:0859390 False epilepsy, X-linked 1, with variable learning disabilities and behavior disorders epilepsy, X-linked, with or without impaired intellectual development and dysmorphic features UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0010340 MONDO:0100440 False Asperger syndrome, X-linked, susceptibility to, 1 Asperger syndrome, susceptibility to UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010348 MONDO:0020573 False dyslexia, susceptibility to, 9 inherited disease susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010353 MONDO:0002254 False deafness-intellectual disability, Martin-Probst type syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0010354 MONDO:0020119 False Allan-Herndon-Dudley syndrome X-linked syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS MONDO:0010355 MONDO:0002320 False syndromic X-linked intellectual disability Claes-Jensen type congenital nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0010355 MONDO:0015159 False syndromic X-linked intellectual disability Claes-Jensen type multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010356 MONDO:0015962 False nephrogenic syndrome of inappropriate antidiuresis inherited renal tubular disease UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010358 MONDO:0020605 False hypophosphatemic rickets, X-linked recessive X-linked recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0010358 MONDO:0020720 False hypophosphatemic rickets, X-linked recessive X-linked hypophosphatemic rickets UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010358 MONDO:0800096 False hypophosphatemic rickets, X-linked recessive abnormal mineralization disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010360 MONDO:0017279 False parkinson disease 12 young-onset Parkinson disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010362 MONDO:0002412 False glycogen storage disease IXd disorder of glycogen metabolism UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS +MONDO:0010364 MONDO:0017004 False X-linked intellectual disability-retinitis pigmentosa syndrome partial monosomy of the short arm of chromosome X UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010364 MONDO:0020119 False X-linked intellectual disability-retinitis pigmentosa syndrome X-linked syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0010365 MONDO:0009711 False myopathy, congenital, with fiber-type disproportion, X-linked congenital fiber-type disproportion myopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0010367 MONDO:0018230 False SHOX-related short stature skeletal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010370 MONDO:0019713 False Cornelia de Lange syndrome 2 non-syndromic limb reduction defect UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010371 MONDO:0005283 False Aland island eye disease retinal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0010371 MONDO:0000425 False Aland island eye disease X-linked disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0010371 MONDO:0700243 False Aland island eye disease CACNA1F-related retinopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010375 MONDO:0016160 False developmental and epileptic encephalopathy, 8 X-linked intellectual disability-epilepsy syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010375 MONDO:0021022 False developmental and epileptic encephalopathy, 8 hereditary hyperekplexia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS MONDO:0010375 MONDO:0100148 False developmental and epileptic encephalopathy, 8 X-linked complex neurodevelopmental disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010378 MONDO:0015364 False X-linked hereditary sensory and autonomic neuropathy with hearing loss hereditary sensory and autonomic neuropathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS MONDO:0010378 MONDO:0019586 False X-linked hereditary sensory and autonomic neuropathy with hearing loss X-linked nonsyndromic hearing loss UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0010379 MONDO:0004736 False Brunner syndrome inborn disorder of amino acid metabolism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0010379 MONDO:0019219 False Brunner syndrome inborn disorder of neurotransmitter metabolism and transport UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010379 MONDO:0020605 False Brunner syndrome X-linked recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0010380 MONDO:0003847 False cataract, ataxia, short stature, and intellectual disability hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010381 MONDO:0003847 False Tn polyagglutination syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0010382 MONDO:0002254 False fragile X-associated tremor/ataxia syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0010382 MONDO:0016612 False fragile X-associated tremor/ataxia syndrome X-linked cerebellar ataxia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0010385 MONDO:0020605 False X-linked lymphoproliferative disease due to XIAP deficiency X-linked recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0010386 MONDO:0003778 False immunodeficiency 33 inborn error of immunity UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0010386 MONDO:0100162 False immunodeficiency 33 IKBKG-related immunodeficiency with or without ectodermal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010388 MONDO:0015587 False rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked rolandic epilepsy-speech dyspraxia syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010388 MONDO:0015653 False rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked monogenic epilepsy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010389 MONDO:0017905 False X-linked Mendelian susceptibility to mycobacterial diseases due to CYBB deficiency X-linked Mendelian susceptibility to mycobacterial diseases UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010390 MONDO:0017304 False ocular albinism with late-onset sensorineural deafness ocular albinism UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010391 MONDO:0019803 False angioma serpiginosum, X-linked angioma serpiginosum UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010392 MONDO:0002412 False glycogen storage disease due to phosphoglycerate kinase 1 deficiency disorder of glycogen metabolism UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS MONDO:0010392 MONDO:0017688 False glycogen storage disease due to phosphoglycerate kinase 1 deficiency disorder of glycolysis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010395 MONDO:0019236 False phosphoribosylpyrophosphate synthetase superactivity inborn disorder of purine metabolism UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010396 MONDO:0017746 False developmental and epileptic encephalopathy, 2 atypical Rett syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010396 MONDO:0018097 False developmental and epileptic encephalopathy, 2 West syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0010396 MONDO:0100039 False developmental and epileptic encephalopathy, 2 CDKL5 disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010397 MONDO:0015653 False severe neonatal-onset encephalopathy with microcephaly monogenic epilepsy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010397 MONDO:0020070 False severe neonatal-onset encephalopathy with microcephaly neonatal epilepsy syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010397 MONDO:0100198 False severe neonatal-onset encephalopathy with microcephaly Mendelian encephalopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010399 MONDO:0010613 False chromosome Xp21 deletion syndrome inborn glycerol kinase deficiency UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS +MONDO:0010399 MONDO:0017004 False chromosome Xp21 deletion syndrome partial monosomy of the short arm of chromosome X UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010400 MONDO:0000727 False X-linked scapuloperoneal muscular dystrophy scapuloperoneal myopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010400 MONDO:0800462 False X-linked scapuloperoneal muscular dystrophy FHL1-related myopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010401 MONDO:0010680 False X-linked myopathy with postural muscle atrophy X-linked Emery-Dreifuss muscular dystrophy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010401 MONDO:0800462 False X-linked myopathy with postural muscle atrophy FHL1-related myopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010403 MONDO:0019290 False albinism-hearing loss syndrome hypopigmentation of the skin UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010403 MONDO:0043209 False albinism-hearing loss syndrome albinism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010403 MONDO:0100118 False albinism-hearing loss syndrome hereditary skin disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010404 MONDO:0016612 False X-linked non progressive cerebellar ataxia X-linked cerebellar ataxia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0010405 MONDO:0023122 False prostate cancer, hereditary, X-linked 2 familial prostate carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0010408 MONDO:0002254 False syndactyly-telecanthus-anogenital and renal malformations syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0010408 MONDO:0015161 False syndactyly-telecanthus-anogenital and renal malformations syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010408 MONDO:0019054 False syndactyly-telecanthus-anogenital and renal malformations syndrome congenital limb malformation UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010408 MONDO:0800066 False syndactyly-telecanthus-anogenital and renal malformations syndrome polydactyly-syndactyly-triphalangism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010410 MONDO:0005339 False alopecia, androgenetic, 2 androgenetic alopecia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010412 MONDO:0020119 False X-linked intellectual disability-craniofacioskeletal syndrome X-linked syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0010414 MONDO:0019948 False myopathy, reducing body, X-linked, early-onset, severe reducing body myopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010414 MONDO:0800462 False myopathy, reducing body, X-linked, early-onset, severe FHL1-related myopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010415 MONDO:0019948 False myopathy, reducing body, X-linked, childhood-onset reducing body myopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0010415 MONDO:0800462 False myopathy, reducing body, X-linked, childhood-onset FHL1-related myopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010416 MONDO:0003847 False deafness, cataract, retinitis pigmentosa, and sperm abnormalities hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010417 MONDO:0020022 False syndromic X-linked intellectual disability Najm type central nervous system malformation UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010418 MONDO:0015149 False hereditary spastic paraplegia 34 pure hereditary spastic paraplegia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010420 MONDO:0000425 False X-linked erythropoietic protoporphyria X-linked disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010421 MONDO:0016462 False Bruton-type agammaglobulinemia isolated agammaglobulinemia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010422 MONDO:0004975 False Alzheimer disease 16 Alzheimer disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0010425 MONDO:0000763 False Lisch epithelial corneal dystrophy epithelial and subepithelial corneal dystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0010425 MONDO:0020212 False Lisch epithelial corneal dystrophy superficial corneal dystrophy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010426 MONDO:0000766 False X-linked endothelial corneal dystrophy corneal endothelial dystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0010426 MONDO:0020214 False X-linked endothelial corneal dystrophy posterior corneal dystrophy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010428 MONDO:0015159 False chromosome Xp11.23-p11.22 duplication syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010428 MONDO:0017009 False chromosome Xp11.23-p11.22 duplication syndrome partial duplication of the short arm of chromosome X UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010433 MONDO:0020573 False systemic lupus erythematosus, susceptibility to, 15 inherited disease susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010435 MONDO:0700230 False nystagmus 6, congenital, X-linked GPR143-related foveal hypoplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010436 MONDO:0010283 False chromosome Xq28 duplication syndrome syndromic X-linked intellectual disability Lubs type UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0010439 MONDO:0003847 False cardiomyopathy, fatal fetal, due to myocardial calcification hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010441 MONDO:0000508 False CK syndrome syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0010441 MONDO:0003847 False CK syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0010441 MONDO:0021147 False CK syndrome disorder of development or morphogenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010442 MONDO:0100249 False 46,XX sex reversal 3 46,XX testicular disorder of sex development UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0010443 MONDO:0015993 False macular degeneration, X-linked atrophic cone-rod dystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS MONDO:0010443 MONDO:0100437 False macular degeneration, X-linked atrophic RPGR-related retinopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010444 MONDO:0019403 False X-linked dyserythropoetic anemia with abnormal platelets and neutropenia congenital dyserythropoietic anemia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS MONDO:0010444 MONDO:0100089 False X-linked dyserythropoetic anemia with abnormal platelets and neutropenia GATA1-Related X-Linked Cytopenia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010446 MONDO:0005328 False X-linked cone dysfunction syndrome with myopia eye disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010448 MONDO:0002320 False moyamoya angiopathy-short stature-facial dysmorphism-hypergonadotropic hypogonadism syndrome congenital nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010448 MONDO:0015160 False moyamoya angiopathy-short stature-facial dysmorphism-hypergonadotropic hypogonadism syndrome multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010455 MONDO:0015131 False X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia combined immunodeficiency UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0010456 MONDO:0003008 False renal cell carcinoma, Xp11-associated hereditary renal cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010456 MONDO:0017886 False renal cell carcinoma, Xp11-associated MIT family translocation renal cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010457 MONDO:0015333 False Ogden syndrome progeroid syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0010457 MONDO:0100124 False Ogden syndrome NAA10-related syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010463 MONDO:0002254 False X-linked dominant chondrodysplasia, Chassaing-Lacombe type syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0010463 MONDO:0003847 False X-linked dominant chondrodysplasia, Chassaing-Lacombe type hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0010464 MONDO:0020022 False X-linked cerebral-cerebellar-coloboma syndrome syndrome central nervous system malformation UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010466 MONDO:0002320 False multiple congenital anomalies-hypotonia-seizures syndrome 2 congenital nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0010466 MONDO:0015327 False multiple congenital anomalies-hypotonia-seizures syndrome 2 developmental anomaly of metabolic origin UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010466 MONDO:0015905 False multiple congenital anomalies-hypotonia-seizures syndrome 2 syndromic dyslipidemia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010466 MONDO:0017748 False multiple congenital anomalies-hypotonia-seizures syndrome 2 inborn disorder of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010467 MONDO:0017010 False Xq27.3q28 duplication syndrome partial duplication of the long arm of chromosome X UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010471 MONDO:0019713 False Cornelia de Lange syndrome 5 non-syndromic limb reduction defect UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010472 MONDO:0002320 False developmental and epileptic encephalopathy, 36 congenital nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0010472 MONDO:0017740 False developmental and epileptic encephalopathy, 36 disorder of protein N-glycosylation UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010475 MONDO:0000425 False X-linked central congenital hypothyroidism with late-onset testicular enlargement X-linked disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0010475 MONDO:0016410 False X-linked central congenital hypothyroidism with late-onset testicular enlargement central congenital hypothyroidism UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010477 MONDO:0000734 False blepharophimosis - intellectual disability syndrome, MKB type Ohdo syndrome and variants UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010477 MONDO:0002320 False blepharophimosis - intellectual disability syndrome, MKB type congenital nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010477 MONDO:0100000 False blepharophimosis - intellectual disability syndrome, MKB type MED12-related intellectual disability syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010478 MONDO:0015327 False SLC35A2-congenital disorder of glycosylation developmental anomaly of metabolic origin UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010478 MONDO:0017749 False SLC35A2-congenital disorder of glycosylation disorder of multiple glycosylation UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010479 MONDO:0018994 False Charcot-Marie-Tooth disease X-linked dominant 6 Charcot-Marie-Tooth disease type X UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0010480 MONDO:0000105 False anemia, nonspherocytic hemolytic, due to G6PD deficiency anemia, nonspherocytic hemolytic UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010480 MONDO:0019231 False anemia, nonspherocytic hemolytic, due to G6PD deficiency inborn disorder of pentose phosphate metabolism UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010480 MONDO:0020585 False anemia, nonspherocytic hemolytic, due to G6PD deficiency anemia due to erythrocyte enzyme disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -24205,25 +19671,58 @@ MONDO:0010481 MONDO:0019293 False angioedema skin vascular disease UNSUPPORTED-M MONDO:0010482 MONDO:0021095 False X-linked parkinsonism-spasticity syndrome parkinsonian disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0010482 MONDO:0100146 False X-linked parkinsonism-spasticity syndrome ATP6AP2-related disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010483 MONDO:0020119 False X-linked intellectual disability, Cantagrel type X-linked syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS +MONDO:0010484 MONDO:0019586 False hearing loss, X-linked 6 X-linked nonsyndromic hearing loss UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0010485 MONDO:0000425 False X-linked colobomatous microphthalmia-microcephaly-intellectual disability-short stature syndrome X-linked disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0010485 MONDO:0015159 False X-linked colobomatous microphthalmia-microcephaly-intellectual disability-short stature syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010490 MONDO:0015159 False SSR4-congenital disorder of glycosylation multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010490 MONDO:0015327 False SSR4-congenital disorder of glycosylation developmental anomaly of metabolic origin UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010490 MONDO:0017740 False SSR4-congenital disorder of glycosylation disorder of protein N-glycosylation UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010491 MONDO:0000425 False X-linked acrogigantism due to Xq26 microduplication X-linked disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010491 MONDO:0017010 False X-linked acrogigantism due to Xq26 microduplication partial duplication of the long arm of chromosome X UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010496 MONDO:0002320 False X-linked intellectual disability-short stature-overweight syndrome congenital nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0010496 MONDO:0015159 False X-linked intellectual disability-short stature-overweight syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010496 MONDO:0020119 False X-linked intellectual disability-short stature-overweight syndrome X-linked syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS MONDO:0010497 MONDO:0019181 False intellectual disability, X-linked 102 non-syndromic X-linked intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0010498 MONDO:0019240 False MEND syndrome sterol biosynthesis disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010501 MONDO:0002320 False syndromic X-linked intellectual disability 34 congenital nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0010501 MONDO:0015159 False syndromic X-linked intellectual disability 34 multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010502 MONDO:0020119 False intellectual disability, X-linked 99, syndromic, female-restricted X-linked syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS +MONDO:0010504 MONDO:0003778 False immunodeficiency 47 inborn error of immunity UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0010505 MONDO:0015159 False intellectual disability-balding-patella luxation-acromicria syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010505 MONDO:0019695 False intellectual disability-balding-patella luxation-acromicria syndrome acromelic dysplasia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010507 MONDO:0017010 False Xq25 microduplication syndrome partial duplication of the long arm of chromosome X UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010514 MONDO:0003778 False combined immunodeficiency due to moesin deficiency inborn error of immunity UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0010515 MONDO:0002254 False Meester-Loeys syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0010515 MONDO:0003847 False Meester-Loeys syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0010516 MONDO:0003847 False midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0010516 MONDO:0010263 False midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS -MONDO:0010518 MONDO:0015131 False Wiskott-Aldrich syndrome combined immunodeficiency UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0010519 MONDO:0020119 False alpha thalassemia-X-linked intellectual disability syndrome X-linked syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS +MONDO:0010518 MONDO:0000425 False Wiskott-Aldrich syndrome X-linked disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0010518 MONDO:0021181 False Wiskott-Aldrich syndrome inherited blood coagulation disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010518 MONDO:0060782 False Wiskott-Aldrich syndrome premalignant hematological system disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010519 MONDO:0016980 False alpha thalassemia-X-linked intellectual disability syndrome ATR-X-related syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010519 MONDO:0020040 False alpha thalassemia-X-linked intellectual disability syndrome 46,XY disorder of sex development UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010520 MONDO:0000425 False X-linked Alport syndrome X-linked disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0010521 MONDO:0015048 False amelogenesis imperfecta type 1E amelogenesis imperfecta type 2 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010523 MONDO:0002254 False X-linked reticulate pigmentary disorder syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0010523 MONDO:0100118 False X-linked reticulate pigmentary disorder hereditary skin disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010524 MONDO:0016612 False X-linked sideroblastic anemia with ataxia X-linked cerebellar ataxia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0010524 MONDO:0020099 False X-linked sideroblastic anemia with ataxia inherited sideroblastic anemia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0010524 MONDO:0044970 False X-linked sideroblastic anemia with ataxia mitochondrial disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010525 MONDO:0019351 False neural tube defects, X-linked isolated spina bifida UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010526 MONDO:0015327 False Fabry disease developmental anomaly of metabolic origin UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010528 MONDO:0002436 False anosmia nasal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010529 MONDO:0016612 False X-linked spinocerebellar ataxia type 3 X-linked cerebellar ataxia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0010531 MONDO:0019287 False contractures-ectodermal dysplasia-cleft lip/palate syndrome ectodermal dysplasia syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0010532 MONDO:0001516 False infantile-onset X-linked spinal muscular atrophy spinal muscular atrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0010532 MONDO:0002320 False infantile-onset X-linked spinal muscular atrophy congenital nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0010532 MONDO:0015168 False infantile-onset X-linked spinal muscular atrophy arthrogryposis multiplex congenita UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS +MONDO:0010532 MONDO:0024257 False infantile-onset X-linked spinal muscular atrophy hereditary motor neuron disease UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010533 MONDO:0002254 False Arts syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0010533 MONDO:0003847 False Arts syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0010534 MONDO:0016612 False X-linked spinocerebellar ataxia type 4 X-linked cerebellar ataxia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0010535 MONDO:0005093 False Bazex-Dupre-Christol syndrome skin disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010536 MONDO:0003847 False tubulin, beta hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010538 MONDO:0019054 False Mononen-Karnes-Senac syndrome congenital limb malformation UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010539 MONDO:0000425 False X-linked mandibulofacial dysostosis X-linked disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010539 MONDO:0002254 False X-linked mandibulofacial dysostosis syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010539 MONDO:0015483 False X-linked mandibulofacial dysostosis mandibulofacial dysostosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -24231,25 +19730,47 @@ MONDO:0010539 MONDO:0018751 False X-linked mandibulofacial dysostosis hereditary MONDO:0010540 MONDO:0003847 False bullous dystrophy, macular type hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010541 MONDO:0002185 False X-linked calvarial hyperostosis hyperostosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010542 MONDO:0016147 False dilated cardiomyopathy 3B qualitative or quantitative defects of dystrophin UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010543 MONDO:0009637 False Barth syndrome inborn mitochondrial myopathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0010543 MONDO:0015134 False Barth syndrome constitutional neutropenia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010543 MONDO:0015905 False Barth syndrome syndromic dyslipidemia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010543 MONDO:0016333 False Barth syndrome familial dilated cardiomyopathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0010543 MONDO:0018117 False Barth syndrome disorder of phospholipids, sphingolipids and fatty acids biosynthesis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010544 MONDO:0011060 False cataract 40 early-onset non-syndromic cataract UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0010545 MONDO:0003847 False Nance-Horan syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0010545 MONDO:0021147 False Nance-Horan syndrome disorder of development or morphogenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010546 MONDO:0003847 False central incisors, absence of hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010547 MONDO:0016612 False X-linked progressive cerebellar ataxia X-linked cerebellar ataxia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0010548 MONDO:0016612 False spinocerebellar ataxia, X-linked 2 X-linked cerebellar ataxia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0010549 MONDO:0018994 False Charcot-Marie-Tooth disease X-linked dominant 1 Charcot-Marie-Tooth disease type X UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0010550 MONDO:0018994 False Charcot-Marie-Tooth disease X-linked recessive 2 Charcot-Marie-Tooth disease type X UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0010551 MONDO:0018994 False Charcot-Marie-Tooth disease X-linked recessive 3 Charcot-Marie-Tooth disease type X UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0010552 MONDO:0003847 False Charcot-Marie-Tooth peroneal muscular atrophy, X-linked, with aplasia cutis congenita hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010553 MONDO:0003847 False Charcot-Marie-Tooth peroneal muscular atrophy and Friedreich ataxia, combined hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010554 MONDO:0002254 False Abruzzo-Erickson syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0010554 MONDO:0003847 False Abruzzo-Erickson syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0010554 MONDO:0015161 False Abruzzo-Erickson syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010555 MONDO:0010556 False X-linked chondrodysplasia punctata 1 X-linked chondrodysplasia punctata UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010556 MONDO:0000425 False X-linked chondrodysplasia punctata X-linked disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0010556 MONDO:0015775 False X-linked chondrodysplasia punctata non-rhizomelic chondrodysplasia punctata UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010556 MONDO:0019240 False X-linked chondrodysplasia punctata sterol biosynthesis disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010557 MONDO:0000425 False choroideremia X-linked disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0010557 MONDO:0001898 False choroideremia optic choroid disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0010557 MONDO:0019118 False choroideremia inherited retinal dystrophy UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0010557 MONDO:0043218 False choroideremia neurovascular disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010558 MONDO:0019118 False choroideremia-deafness-obesity syndrome inherited retinal dystrophy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010559 MONDO:0015150 False MASA syndrome complex hereditary spastic paraplegia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010559 MONDO:0017140 False MASA syndrome L1 syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010560 MONDO:0016064 False cleft palate with or without ankyloglossia, X-linked cleft palate UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0010561 MONDO:0020119 False Coffin-Lowry syndrome X-linked syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS MONDO:0010562 MONDO:0021147 False colonic atresia disorder of development or morphogenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010563 MONDO:0018852 False blue cone monochromacy achromatopsia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0010563 MONDO:0020605 False blue cone monochromacy X-linked recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0010563 MONDO:0021155 False blue cone monochromacy X-linked cone-rod dystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010564 MONDO:0000014 False red-green color blindness colorblindness, partial UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010564 MONDO:0003847 False red-green color blindness hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0010565 MONDO:0001703 False red color blindness color vision disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0010565 MONDO:0003847 False red color blindness hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0010565 MONDO:0005328 False red color blindness eye disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0010566 MONDO:0021155 False X-linked cone-rod dystrophy 1 X-linked cone-rod dystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010566 MONDO:0100437 False X-linked cone-rod dystrophy 1 RPGR-related retinopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010567 MONDO:0000425 False cone dystrophy, X-linked, with tapetal-like sheen X-linked disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -24257,105 +19778,165 @@ MONDO:0010567 MONDO:0000455 False cone dystrophy, X-linked, with tapetal-like sh MONDO:0010568 MONDO:0021147 False Aicardi syndrome disorder of development or morphogenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010568 MONDO:0700092 False Aicardi syndrome neurodevelopmental disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010569 MONDO:0003847 False X-linked complicated corpus callosum dysgenesis hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010569 MONDO:0017140 False X-linked complicated corpus callosum dysgenesis L1 syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010570 MONDO:0002254 False craniofrontonasal syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0010570 MONDO:0018230 False craniofrontonasal syndrome skeletal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010570 MONDO:0021635 False craniofrontonasal syndrome neurocristopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010571 MONDO:0019027 False otopalatodigital syndrome type 2 otopalatodigital syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010572 MONDO:0015160 False occipital horn syndrome multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010572 MONDO:0015327 False occipital horn syndrome developmental anomaly of metabolic origin UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010572 MONDO:0017762 False occipital horn syndrome disorder of copper metabolism UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010572 MONDO:0100237 False occipital horn syndrome inherited cutis laxa UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0010573 MONDO:0003847 False cutis verticis gyrata, thyroid aplasia, and intellectual disability hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010574 MONDO:0002320 False syndromic X-linked intellectual disability 5 congenital nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0010574 MONDO:0015159 False syndromic X-linked intellectual disability 5 multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010574 MONDO:0020022 False syndromic X-linked intellectual disability 5 central nervous system malformation UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010575 MONDO:0002254 False deafness-hypogonadism syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010576 MONDO:0002467 False X-linked mixed hearing loss with perilymphatic gusher inner ear disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0010576 MONDO:0018751 False X-linked mixed hearing loss with perilymphatic gusher hereditary otorhinolaryngologic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010576 MONDO:0019586 False X-linked mixed hearing loss with perilymphatic gusher X-linked nonsyndromic hearing loss UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0010577 MONDO:0019586 False hearing loss, X-linked 1 X-linked nonsyndromic hearing loss UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0010578 MONDO:0024237 False deafness dystonia syndrome inherited neurodegenerative disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010579 MONDO:0000942 False X-linked corneal dermoid corneal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010579 MONDO:0002254 False X-linked corneal dermoid syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010580 MONDO:0000569 False immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome autoimmune disorder of endocrine system UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0010580 MONDO:0000605 False immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome hypersensitivity reaction disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0010580 MONDO:0002254 False immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0010580 MONDO:0003847 False immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0010580 MONDO:0015126 False immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome polyendocrinopathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010580 MONDO:0019787 False immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome autoimmune enteropathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010581 MONDO:0000425 False diabetes insipidus, nephrogenic, X-linked X-linked disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0010581 MONDO:0016383 False diabetes insipidus, nephrogenic, X-linked nephrogenic diabetes insipidus UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0010583 MONDO:0000425 False Dyggve-Melchior-Clausen syndrome, X-linked X-linked disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010583 MONDO:0009130 False Dyggve-Melchior-Clausen syndrome, X-linked Dyggve-Melchior-Clausen disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0010584 MONDO:0000425 False dyskeratosis congenita, X-linked X-linked disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0010584 MONDO:0100152 False dyskeratosis congenita, X-linked DKC1-related disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010585 MONDO:0000425 False X-linked hypohidrotic ectodermal dysplasia X-linked disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0010585 MONDO:0016535 False X-linked hypohidrotic ectodermal dysplasia hypohidrotic ectodermal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0010586 MONDO:0000425 False X-linked Ehlers-Danlos syndrome X-linked disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010587 MONDO:0000425 False epidermodysplasia verruciformis, X-linked X-linked disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010587 MONDO:0009176 False epidermodysplasia verruciformis, X-linked epidermodysplasia verruciformis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010588 MONDO:0000425 False exudative vitreoretinopathy 2, X-linked X-linked disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0010589 MONDO:0000425 False Aarskog-Scott syndrome, X-linked X-linked disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0010589 MONDO:0021005 False Aarskog-Scott syndrome, X-linked faciodigitogenital syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0010590 MONDO:0002010 False FG syndrome 1 FG syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0010590 MONDO:0100000 False FG syndrome 1 MED12-related intellectual disability syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010591 MONDO:0019952 False fingerprint body myopathy congenital myopathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0010592 MONDO:0019755 False focal dermal hypoplasia developmental defect during embryogenesis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010592 MONDO:0020119 False focal dermal hypoplasia X-linked syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS MONDO:0010595 MONDO:0004983 False Sertoli cell-only syndrome spermatogenic failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0010596 MONDO:0018904 False membranoproliferative glomerulonephritis, X-linked primary membranoproliferative glomerulonephritis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010597 MONDO:0003847 False glutamyl ribose-5-phosphate storage disease hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010598 MONDO:0020693 False glycogen storage disease IXa1 glycogen storage disease due to liver phosphorylase kinase deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010599 MONDO:0003847 False granulomas, congenital cerebral hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010602 MONDO:0000425 False hemophilia A X-linked disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0010602 MONDO:0002243 False hemophilia A hemorrhagic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0010602 MONDO:0021181 False hemophilia A inherited blood coagulation disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010603 MONDO:0010602 False hemophilia A with vascular abnormality hemophilia A UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0010604 MONDO:0002243 False hemophilia B hemorrhagic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0010604 MONDO:0021181 False hemophilia B inherited blood coagulation disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010605 MONDO:0003847 False hemopoietic proliferation hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010606 MONDO:0005711 False hernia, anterior diaphragmatic congenital diaphragmatic hernia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0010608 MONDO:0003847 False Hhhh syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010610 MONDO:0002320 False holoprosencephaly-hypokinesia-congenital contractures syndrome congenital nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010610 MONDO:0020022 False holoprosencephaly-hypokinesia-congenital contractures syndrome central nervous system malformation UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010611 MONDO:0000425 False X-linked hydrocephalus with stenosis of the aqueduct of Sylvius X-linked disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010611 MONDO:0017140 False X-linked hydrocephalus with stenosis of the aqueduct of Sylvius L1 syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010612 MONDO:0002254 False hydrocephaly-cerebellar agenesis syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010613 MONDO:0019052 False inborn glycerol kinase deficiency inborn errors of metabolism UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0010614 MONDO:0016381 False X-linked congenital generalized hypertrichosis hypertrichosis lanuginosa congenita UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0010617 MONDO:0015159 False male hypergonadotropic hypogonadism-intellectual disability-skeletal anomalies syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010618 MONDO:0007796 False familial isolated hypoparathyroidism due to agenesis of parathyroid gland hypoparathyroidism, familial isolated 1 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0010619 MONDO:0020604 False X-linked dominant hypophosphatemic rickets X-linked dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0010619 MONDO:0020720 False X-linked dominant hypophosphatemic rickets X-linked hypophosphatemic rickets UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010619 MONDO:0800096 False X-linked dominant hypophosphatemic rickets abnormal mineralization disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010620 MONDO:0009071 False hypouricemia, familial renal, due to tubular hypersecretion hereditary renal hypouricemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010621 MONDO:0000631 False CHILD syndrome bone benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0010621 MONDO:0005073 False CHILD syndrome melanocytic nevus UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010621 MONDO:0015161 False CHILD syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010621 MONDO:0015905 False CHILD syndrome syndromic dyslipidemia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010621 MONDO:0017269 False CHILD syndrome X-linked ichthyosis syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010621 MONDO:0019240 False CHILD syndrome sterol biosynthesis disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010621 MONDO:0019701 False CHILD syndrome chondrodysplasia punctata UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0010621 MONDO:0023603 False CHILD syndrome hereditary disorder of connective tissue UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010621 MONDO:0100118 False CHILD syndrome hereditary skin disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010621 MONDO:0700245 False CHILD syndrome syndromic disorder of cell proliferation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010622 MONDO:0015947 False recessive X-linked ichthyosis inherited ichthyosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010622 MONDO:0019256 False recessive X-linked ichthyosis sterol metabolism disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010622 MONDO:0020605 False recessive X-linked ichthyosis X-linked recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0010623 MONDO:0003847 False ichthyosis and male hypogonadism hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010625 MONDO:0003778 False immunodeficiency, X-linked, with deficiency of 115,000 Dalton surface glycoprotein inborn error of immunity UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010627 MONDO:0021094 False X-linked lymphoproliferative syndrome immunodeficiency disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010626 MONDO:0000425 False hyper-IgM syndrome type 1 X-linked disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0010627 MONDO:0000425 False X-linked lymphoproliferative syndrome X-linked disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0010627 MONDO:0015541 False X-linked lymphoproliferative syndrome hereditary hemophagocytic lymphohistiocytosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010627 MONDO:0016537 False X-linked lymphoproliferative syndrome lymphoproliferative syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0010628 MONDO:0003847 False immunoglobulin M, level of hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010629 MONDO:0003847 False impacted teeth, multiple hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010630 MONDO:0003847 False imprinting gene related to retinoblastoma hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010631 MONDO:0019287 False incontinentia pigmenti ectodermal dysplasia syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS MONDO:0010631 MONDO:0020247 False incontinentia pigmenti congenital vitreoretinal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010632 MONDO:0018097 False developmental and epileptic encephalopathy, 1 West syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0010633 MONDO:0005283 False iris hypoplasia with glaucoma retinal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010633 MONDO:0018174 False iris hypoplasia with glaucoma hereditary glaucoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010634 MONDO:0003847 False jaundice, familial obstructive, of infancy hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010635 MONDO:0018800 False hypogonadotropic hypogonadism 1 with or without anosmia Kallmann syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0010636 MONDO:0003847 False Kallmann syndrome with spastic paraplegia hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010637 MONDO:0000136 False keratosis follicularis spinulosa decalvans, X-linked keratosis follicularis spinulosa decalvans UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0010638 MONDO:0002254 False keratosis follicularis-dwarfism-cerebral atrophy syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010639 MONDO:0002254 False laryngeal abductor paralysis-intellectual disability syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010640 MONDO:0020573 False Leber optic atrophy, susceptibility to inherited disease susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010641 MONDO:0005240 False X-linked diffuse leiomyomatosis-Alport syndrome kidney disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010641 MONDO:0017007 False X-linked diffuse leiomyomatosis-Alport syndrome partial deletion of the long arm of chromosome X UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010642 MONDO:0010298 False Lesch-Nyhan phenotype with normal HGPRT Lesch-Nyhan syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0010643 MONDO:0020683 False acute leukemia acute disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010644 MONDO:0003634 False proteinuria, low molecular weight, with hypercalciuria and nephrocalcinosis proteinuria UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0010644 MONDO:0100191 False proteinuria, low molecular weight, with hypercalciuria and nephrocalcinosis inherited kidney disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010645 MONDO:0005328 False oculocerebrorenal syndrome eye disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0010645 MONDO:0015962 False oculocerebrorenal syndrome inherited renal tubular disease UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010645 MONDO:0019216 False oculocerebrorenal syndrome inborn disorder of amino acid transport UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010646 MONDO:0000425 False macular dystrophy, X-linked X-linked disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010646 MONDO:0020242 False macular dystrophy, X-linked hereditary macular dystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010648 MONDO:0000693 False major affective disorder 2 bipolar II disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010648 MONDO:0003847 False major affective disorder 2 hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010649 MONDO:0009576 False isolated congenital megalocornea megalocornea UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0010650 MONDO:0018233 False Melnick-Needles syndrome otopalatodigital syndrome spectrum disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0010650 MONDO:0020119 False Melnick-Needles syndrome X-linked syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS -MONDO:0010651 MONDO:0002254 False Menkes disease syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0010651 MONDO:0004689 False Menkes disease inborn metal metabolism disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0010651 MONDO:0017762 False Menkes disease disorder of copper metabolism UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010652 MONDO:0020119 False X-linked intellectual disability-seizures-psoriasis syndrome X-linked syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0010655 MONDO:0002320 False X-linked intellectual disability with marfanoid habitus congenital nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0010655 MONDO:0015159 False X-linked intellectual disability with marfanoid habitus multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010655 MONDO:0100000 False X-linked intellectual disability with marfanoid habitus MED12-related intellectual disability syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010659 MONDO:0019181 False FRAXE intellectual disability non-syndromic X-linked intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS +MONDO:0010661 MONDO:0020119 False severe X-linked intellectual disability, Gustavson type X-linked syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS MONDO:0010662 MONDO:0002254 False paraplegia-intellectual disability-hyperkeratosis syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010663 MONDO:0002254 False intellectual disability-hypotonic facies syndrome, X-linked, 1 syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0010663 MONDO:0016980 False intellectual disability-hypotonic facies syndrome, X-linked, 1 ATR-X-related syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010664 MONDO:0800159 False syndromic X-linked intellectual disability Snyder type disorder of polyamine metabolism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010668 MONDO:0019694 False skeletal dysplasia-intellectual disability syndrome spondylodysplastic dysplasia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010668 MONDO:0020119 False skeletal dysplasia-intellectual disability syndrome X-linked syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0010669 MONDO:0019530 False syndactyly type 8 non-syndromic syndactyly UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010670 MONDO:0020119 False X-linked intellectual disability-spastic quadriparesis syndrome X-linked syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0010671 MONDO:0100124 False microphthalmia, syndromic 1 NAA10-related syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010672 MONDO:0016073 False linear skin defects with multiple congenital anomalies syndromic microphthalmia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS +MONDO:0010672 MONDO:0019294 False linear skin defects with multiple congenital anomalies mixed dermis disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010672 MONDO:0100118 False linear skin defects with multiple congenital anomalies hereditary skin disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010673 MONDO:0003847 False modifier, X-linked, for Neurofunctional defects hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010674 MONDO:0002254 False mucopolysaccharidosis type 2 syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0010674 MONDO:0800088 False mucopolysaccharidosis type 2 lysosomal storage disease with skeletal involvement UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010675 MONDO:0020121 False muscular dystrophy, cardiac type muscular dystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010676 MONDO:0020121 False muscular dystrophy, Hemizygous lethal type muscular dystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010677 MONDO:0020121 False muscular dystrophy, Mabry type muscular dystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010678 MONDO:0020121 False muscular dystrophy, progressive Pectorodorsal muscular dystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010680 MONDO:0000425 False X-linked Emery-Dreifuss muscular dystrophy X-linked disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010680 MONDO:0016830 False X-linked Emery-Dreifuss muscular dystrophy Emery-Dreifuss muscular dystrophy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010680 MONDO:0021106 False X-linked Emery-Dreifuss muscular dystrophy laminopathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010681 MONDO:0003847 False myelolymphatic insufficiency hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010683 MONDO:0000425 False X-linked myotubular myopathy X-linked disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0010684 MONDO:0016106 False X-linked myopathy with excessive autophagy progressive muscular dystrophy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010684 MONDO:0016112 False X-linked myopathy with excessive autophagy hereditary inclusion-body myopathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010686 MONDO:0015159 False N syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010686 MONDO:0015356 False N syndrome hereditary neoplastic syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010687 MONDO:0008171 False nephrolithiasis, X-linked recessive, with renal failure nephrolithiasis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010687 MONDO:0100191 False nephrolithiasis, X-linked recessive, with renal failure inherited kidney disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010688 MONDO:0015364 False hereditary sensory neuropathy X-linked hereditary sensory and autonomic neuropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS +MONDO:0010689 MONDO:0018994 False Charcot-Marie-Tooth disease X-linked recessive 4 Charcot-Marie-Tooth disease type X UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0010690 MONDO:0044749 False congenital stationary night blindness 1A X-linked congenital stationary night blindness UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010690 MONDO:0800407 False congenital stationary night blindness 1A NYX-related retinopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010691 MONDO:0020247 False Norrie disease congenital vitreoretinal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -24365,48 +19946,69 @@ MONDO:0010695 MONDO:0003847 False occipital hair, white lock of hereditary disea MONDO:0010696 MONDO:0003847 False omphalocele, X-linked hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010696 MONDO:0019015 False omphalocele, X-linked omphalocele UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010697 MONDO:0003847 False ophthalmoplegia, external, and myopia hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010699 MONDO:0018994 False Charcot-Marie-Tooth disease X-linked recessive 5 Charcot-Marie-Tooth disease type X UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0010699 MONDO:0019236 False Charcot-Marie-Tooth disease X-linked recessive 5 inborn disorder of purine metabolism UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010700 MONDO:0003847 False optic atrophy--spastic paraplegia syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010702 MONDO:0005308 False orofaciodigital syndrome I ciliopathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0010702 MONDO:0100500 False orofaciodigital syndrome I Mendelian neurodevelopmental disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010703 MONDO:0800153 False ornithine carbamoyltransferase deficiency urea cycle disorder or inherited hyperammonemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010704 MONDO:0002254 False otopalatodigital syndrome type 1 syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0010704 MONDO:0019027 False otopalatodigital syndrome type 1 otopalatodigital syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010707 MONDO:0003847 False Paine syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010708 MONDO:0002254 False Pallister-W syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010709 MONDO:0020119 False early-onset parkinsonism-intellectual disability syndrome X-linked syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS MONDO:0010709 MONDO:0021095 False early-onset parkinsonism-intellectual disability syndrome parkinsonian disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0010710 MONDO:0003847 False Pierre Robin syndrome-faciodigital anomaly syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010711 MONDO:0003847 False TARP syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0010711 MONDO:0005267 False TARP syndrome heart disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0010712 MONDO:0019591 False panhypopituitarism, X-linked panhypopituitarism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0010713 MONDO:0003778 False properdin deficiency, X-linked inborn error of immunity UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0010716 MONDO:0000425 False X-linked lethal multiple pterygium syndrome X-linked disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010716 MONDO:0009668 False X-linked lethal multiple pterygium syndrome lethal multiple pterygium syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0010718 MONDO:0003847 False absent radius-anogenital anomalies syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010718 MONDO:0018234 False absent radius-anogenital anomalies syndrome dysostosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010718 MONDO:0019054 False absent radius-anogenital anomalies syndrome congenital limb malformation UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010719 MONDO:0003847 False radiation sensitivity of natural killer activity hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010721 MONDO:0003847 False reticuloendotheliosis, X-linked hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010722 MONDO:0019118 False X-linked retinal dysplasia inherited retinal dystrophy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010723 MONDO:0100442 False retinitis pigmentosa 2 RP2-related retinopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010725 MONDO:0000425 False X-linked retinoschisis X-linked disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0010725 MONDO:0004579 False X-linked retinoschisis retinoschisis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0010725 MONDO:0019118 False X-linked retinoschisis inherited retinal dystrophy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0010725 MONDO:0020248 False X-linked retinoschisis vitreoretinal degeneration UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010726 MONDO:0002254 False Rett syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0010726 MONDO:0000594 False Rett syndrome pervasive developmental disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0010726 MONDO:0100500 False Rett syndrome Mendelian neurodevelopmental disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010727 MONDO:0008394 False Russell-silver syndrome, X-linked Silver-Russell syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0010728 MONDO:0002254 False SCARF syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010729 MONDO:0020119 False X-linked intellectual disability, Schimke type X-linked syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0010730 MONDO:0044200 False combined immunodeficiency, X-linked T-B+ severe combined immunodeficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010731 MONDO:0002254 False Simpson-Golabi-Behmel syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010731 MONDO:0019716 False Simpson-Golabi-Behmel syndrome overgrowth syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010732 MONDO:0003847 False spastic paraparesis-deafness syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0010733 MONDO:0019046 False hereditary spastic paraplegia 2 leukodystrophy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS MONDO:0010734 MONDO:0003847 False spatial visualization, aptitude for hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010735 MONDO:0024237 False Kennedy disease inherited neurodegenerative disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010737 MONDO:0000425 False spondyloepiphyseal dysplasia tarda, X-linked X-linked disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0010737 MONDO:0019667 False spondyloepiphyseal dysplasia tarda, X-linked spondyloepiphyseal dysplasia tarda UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0010739 MONDO:0003847 False Taqi polymorphism hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010740 MONDO:0003847 False taurodontism, microdontia, and dens invaginatus hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010742 MONDO:0015161 False pentalogy of Cantrell multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010744 MONDO:0003847 False thrombocytopenia with elevated serum IgA and renal disease hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010745 MONDO:0017145 False beta-thalassemia-X-linked thrombocytopenia syndrome beta-thalassemia and related diseases UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010745 MONDO:0100089 False beta-thalassemia-X-linked thrombocytopenia syndrome GATA1-Related X-Linked Cytopenia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010746 MONDO:0003847 False thumbs, congenital Clasped hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010747 MONDO:0000477 False X-linked dystonia-parkinsonism focal dystonia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0010747 MONDO:0020065 False X-linked dystonia-parkinsonism combined dystonia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010747 MONDO:0021095 False X-linked dystonia-parkinsonism parkinsonian disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0010748 MONDO:0002254 False torticollis-keloids-cryptorchidism-renal dysplasia syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010748 MONDO:0021147 False torticollis-keloids-cryptorchidism-renal dysplasia syndrome disorder of development or morphogenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010749 MONDO:0002254 False trigonocephaly-short stature-developmental delay syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010750 MONDO:0002254 False ulnar hypoplasia-split foot syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010750 MONDO:0003847 False ulnar hypoplasia-split foot syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010750 MONDO:0018234 False ulnar hypoplasia-split foot syndrome dysostosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010750 MONDO:0019054 False ulnar hypoplasia-split foot syndrome congenital limb malformation UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010751 MONDO:0003847 False unique green phenomenon hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010752 MONDO:0008642 False VACTERL association, X-linked, with or without hydrocephalus VACTERL/vater association UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS MONDO:0010752 MONDO:0010172 False VACTERL association, X-linked, with or without hydrocephalus VACTERL with hydrocephalus UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0010753 MONDO:0003847 False cardiac valvular dysplasia, X-linked hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0010753 MONDO:0020289 False cardiac valvular dysplasia, X-linked congenital tricuspid malformation UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010754 MONDO:0002254 False van den Bosch syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010755 MONDO:0017329 False vesicoureteral reflux, X-linked familial vesicoureteral reflux UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING @@ -24417,7 +20019,9 @@ MONDO:0010758 MONDO:0100500 False Wieacker-Wolff syndrome Mendelian neurodevelop MONDO:0010759 MONDO:0001029 False Wildervanck syndrome Klippel-Feil syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0010759 MONDO:0002254 False Wildervanck syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010760 MONDO:0003847 False XH antigen hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010761 MONDO:0000428 False retinitis pigmentosa Y-linked Y-linked disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0010762 MONDO:0004952 False lymphoma, Hodgkin, Y-linked pseudoautosomal Hodgkins lymphoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010763 MONDO:0010595 False spermatogenic failure, Y-linked, 1 Sertoli cell-only syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0010763 MONDO:0015607 False spermatogenic failure, Y-linked, 1 partial chromosome Y deletion UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010765 MONDO:0021147 False 46,XY complete gonadal dysgenesis disorder of development or morphogenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010765 MONDO:0024573 False 46,XY complete gonadal dysgenesis familial hypertrophic cardiomyopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS @@ -24429,75 +20033,140 @@ MONDO:0010768 MONDO:0005853 False gonadoblastoma malignant mixed neoplasm UNSUPP MONDO:0010768 MONDO:0006055 False gonadoblastoma sex cord-stromal tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0010769 MONDO:0003847 False hairy ears, Y-linked hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010770 MONDO:0003847 False ubiquitin-activating enzyme, Y-linked hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010771 MONDO:0004069 False histiocytoid cardiomyopathy inborn mitochondrial metabolism disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0010771 MONDO:0016333 False histiocytoid cardiomyopathy familial dilated cardiomyopathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0010772 MONDO:0010788 False Leber optic atrophy and dystonia Leber hereditary optic neuropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS +MONDO:0010772 MONDO:0020478 False Leber optic atrophy and dystonia Leber plus disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0010773 MONDO:0009637 False mitochondrial myopathy with diabetes inborn mitochondrial myopathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010774 MONDO:0010080 False striatonigral degeneration, infantile, mitochondrial familial infantile bilateral striatal necrosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0010775 MONDO:0019501 False retinitis pigmentosa-deafness syndrome Usher syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS MONDO:0010776 MONDO:0003847 False hypomagnesemia, hypertension, and hypercholesterolemia, mitochondrial hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010777 MONDO:0003847 False cardiomyopathy, infantile hypertrophic hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0010778 MONDO:0003847 False cyclic vomiting syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010778 MONDO:0100070 False cyclic vomiting syndrome neuroendocrine disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010779 MONDO:0016297 False mitochondrial non-syndromic sensorineural hearing loss prelingual non-syndromic genetic hearing loss UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010779 MONDO:0016298 False mitochondrial non-syndromic sensorineural hearing loss postlingual non-syndromic genetic hearing loss UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010779 MONDO:0016387 False mitochondrial non-syndromic sensorineural hearing loss mitochondrial oxidative phosphorylation disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010780 MONDO:0009637 False mitochondrial myopathy with reversible cytochrome C oxidase deficiency inborn mitochondrial myopathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010781 MONDO:0021190 False ataxia and polyneuropathy, adult-onset DNA repair disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010782 MONDO:0000863 False myopathy, lactic acidosis, and sideroblastic anemia 3 myopathy, lactic acidosis, and sideroblastic anemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS MONDO:0010784 MONDO:0003847 False chloramphenicol toxicity hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010785 MONDO:0015967 False maternally-inherited diabetes and deafness monogenic diabetes UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010785 MONDO:0016387 False maternally-inherited diabetes and deafness mitochondrial oxidative phosphorylation disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010786 MONDO:0005020 False chronic diarrhea with villous atrophy intestinal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010787 MONDO:0002254 False Kearns-Sayre syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0010786 MONDO:0016387 False chronic diarrhea with villous atrophy mitochondrial oxidative phosphorylation disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010787 MONDO:0002320 False Kearns-Sayre syndrome congenital nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0010787 MONDO:0005181 False Kearns-Sayre syndrome progressive external ophthalmoplegia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0010787 MONDO:0016333 False Kearns-Sayre syndrome familial dilated cardiomyopathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0010787 MONDO:0016387 False Kearns-Sayre syndrome mitochondrial oxidative phosphorylation disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010787 MONDO:0020127 False Kearns-Sayre syndrome hereditary peripheral neuropathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010787 MONDO:0024458 False Kearns-Sayre syndrome disorder of visual system UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010788 MONDO:0004884 False Leber hereditary optic neuropathy eye degenerative disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0010788 MONDO:0043878 False Leber hereditary optic neuropathy hereditary optic atrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING -MONDO:0010789 MONDO:0002254 False MELAS syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0010790 MONDO:0002254 False MERRF syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0010788 MONDO:0016333 False Leber hereditary optic neuropathy familial dilated cardiomyopathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0010788 MONDO:0016387 False Leber hereditary optic neuropathy mitochondrial oxidative phosphorylation disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010788 MONDO:0020249 False Leber hereditary optic neuropathy hereditary optic neuropathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010789 MONDO:0004675 False MELAS syndrome mitochondrial encephalomyopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0010790 MONDO:0002320 False MERRF syndrome congenital nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0010790 MONDO:0004675 False MERRF syndrome mitochondrial encephalomyopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0010790 MONDO:0016022 False MERRF syndrome early myoclonic encephalopathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0010790 MONDO:0016333 False MERRF syndrome familial dilated cardiomyopathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0010790 MONDO:0020127 False MERRF syndrome hereditary peripheral neuropathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010791 MONDO:0000866 False myoglobinuria, recurrent hereditary myoglobinuria UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010791 MONDO:0020504 False myoglobinuria, recurrent hereditary recurrent myoglobinuria UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010791 MONDO:0700223 False myoglobinuria, recurrent hereditary skeletal muscle disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010792 MONDO:0009637 False lethal infantile mitochondrial myopathy inborn mitochondrial myopathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010793 MONDO:0003847 False nephropathy, chronic tubulointerstitial hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010794 MONDO:0015653 False NARP syndrome monogenic epilepsy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010794 MONDO:0016387 False NARP syndrome mitochondrial oxidative phosphorylation disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010794 MONDO:0020127 False NARP syndrome hereditary peripheral neuropathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010794 MONDO:0100033 False NARP syndrome metabolic epilepsy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010796 MONDO:0005180 False Parkinson disease, mitochondrial Parkinson disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING -MONDO:0010797 MONDO:0002254 False Pearson syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0010798 MONDO:0002254 False proximal tubulopathy-diabetes mellitus-cerebellar ataxia syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010799 MONDO:0016298 False deafness, aminoglycoside-induced postlingual non-syndromic genetic hearing loss UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010799 MONDO:0016387 False deafness, aminoglycoside-induced mitochondrial oxidative phosphorylation disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010808 MONDO:0013600 False fatal familial insomnia insomnia UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010800 MONDO:0018105 False Wolfram syndrome, mitochondrial form Wolfram syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0010801 MONDO:0019694 False spondylocamptodactyly syndrome spondylodysplastic dysplasia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010802 MONDO:0002254 False pancreatic hypoplasia-diabetes-congenital heart disease syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0010802 MONDO:0003847 False pancreatic hypoplasia-diabetes-congenital heart disease syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0010803 MONDO:0018230 False Eiken syndrome skeletal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010805 MONDO:0017919 False bladder exstrophy exstrophy-epispadias complex UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0010806 MONDO:0700234 False retinitis pigmentosa 13 PRPF8-related retinopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010808 MONDO:0005429 False fatal familial insomnia prion disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0010808 MONDO:0024237 False fatal familial insomnia inherited neurodegenerative disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010809 MONDO:0011996 False familial chronic myelocytic leukemia-like syndrome chronic myelogenous leukemia, BCR-ABL1 positive UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS MONDO:0010810 MONDO:0002525 False vitamin D hydroxylation-deficient rickets, type 1B inherited lipid metabolism disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0010810 MONDO:0009924 False vitamin D hydroxylation-deficient rickets, type 1B vitamin D-dependent rickets, type 1 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010810 MONDO:0045012 False vitamin D hydroxylation-deficient rickets, type 1B steroid metabolism disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010810 MONDO:0800096 False vitamin D hydroxylation-deficient rickets, type 1B abnormal mineralization disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010811 MONDO:0005043 False benign prostatic hyperplasia hyperplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010811 MONDO:0003105 False benign prostatic hyperplasia prostate disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0010812 MONDO:0003847 False macrocytosis, familial hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010813 MONDO:0003847 False pancreatic beta cell agenesis with neonatal diabetes mellitus hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010814 MONDO:0002254 False chondrodysplasia-pseudohermaphroditism syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0010814 MONDO:0020040 False chondrodysplasia-pseudohermaphroditism syndrome 46,XY disorder of sex development UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010815 MONDO:0019667 False spondyloepiphyseal dysplasia tarda with characteristic facies spondyloepiphyseal dysplasia tarda UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0010816 MONDO:0002254 False Qazi Markouizos syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0010819 MONDO:0019353 False Stargardt disease 3 Stargardt disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010819 MONDO:0700227 False Stargardt disease 3 ELOVL4-related maculopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010820 MONDO:0017279 False autosomal recessive juvenile Parkinson disease 2 young-onset Parkinson disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0010821 MONDO:0002254 False familial developmental dysphasia syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010821 MONDO:0016226 False familial developmental dysphasia specific language disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010823 MONDO:0100274 False rhizomelic chondrodysplasia punctata type 3 alkylglycerone-phosphate synthase deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010824 MONDO:0020040 False disorder of sex development-intellectual disability syndrome 46,XY disorder of sex development UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010825 MONDO:0002254 False atrioventricular defect-blepharophimosis-radial and anal defect syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010825 MONDO:0005267 False atrioventricular defect-blepharophimosis-radial and anal defect syndrome heart disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010825 MONDO:0015161 False atrioventricular defect-blepharophimosis-radial and anal defect syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010825 MONDO:0024458 False atrioventricular defect-blepharophimosis-radial and anal defect syndrome disorder of visual system UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010826 MONDO:0000414 False childhood absence epilepsy childhood electroclinical syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0010826 MONDO:0015653 False childhood absence epilepsy monogenic epilepsy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010826 MONDO:0020072 False childhood absence epilepsy childhood-onset epilepsy syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010826 MONDO:0850093 False childhood absence epilepsy absence epilepsy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0010828 MONDO:0800395 False retinitis pigmentosa 11 PRPF31-related retinopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010829 MONDO:0014768 False CARASIL syndrome cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0010830 MONDO:0015674 False neuronal ceroid lipofuscinosis 8 late infantile neuronal ceroid lipofuscinosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010830 MONDO:0019262 False neuronal ceroid lipofuscinosis 8 juvenile neuronal ceroid lipofuscinosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010831 MONDO:0003847 False familial caudal dysgenesis hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010831 MONDO:0018639 False familial caudal dysgenesis caudal regression-sirenomelia spectrum UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010833 MONDO:0100179 False Hirschsprung disease, susceptibility to, 2 Hirschsprung disease, susceptibility to UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010834 MONDO:0100179 False Hirschsprung disease, susceptibility to, 5 Hirschsprung disease, susceptibility to UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010835 MONDO:0015159 False pterygium colli-intellectual disability-digital anomalies syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010838 MONDO:0003847 False gonadal agenesis hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010839 MONDO:0015362 False neuronopathy, distal hereditary motor, autosomal dominant 8 neuronopathy, distal hereditary motor, autosomal dominant UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS MONDO:0010840 MONDO:0005071 False pachygyria-intellectual disability-epilepsy syndrome nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010841 MONDO:0019517 False Waardenburg syndrome type 2B Waardenburg syndrome type 2 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010842 MONDO:0000426 False multiple cutaneous and mucosal venous malformations autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0010842 MONDO:0005385 False multiple cutaneous and mucosal venous malformations vascular disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0010843 MONDO:0020573 False dyslexia, susceptibility to, 2 inherited disease susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010844 MONDO:0015627 False epiphyseal dysplasia, multiple, 2 multiple epiphyseal dysplasia due to collagen 9 anomaly UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0010846 MONDO:0005508 False exostoses, multiple, type III hereditary multiple osteochondromas UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0010847 MONDO:0019792 False spinocerebellar ataxia type 4 autosomal dominant cerebellar ataxia type I UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010848 MONDO:0019793 False spinocerebellar ataxia type 5 autosomal dominant cerebellar ataxia type III UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010849 MONDO:0017666 False palmoplantar keratoderma, Bothnian type diffuse palmoplantar keratoderma UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010850 MONDO:0015824 False Tessier number 4 facial cleft oculomaxillofacial dysostosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010851 MONDO:0005328 False Lowry-MacLean syndrome eye disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010851 MONDO:0015159 False Lowry-MacLean syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010851 MONDO:0015338 False Lowry-MacLean syndrome syndromic craniosynostosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010852 MONDO:0016907 False chromosome 8Q12.1-q21.2 deletion syndrome partial deletion of the long arm of chromosome 8 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010853 MONDO:0015979 False Helicobacter pylori infection, susceptibility to hereditary predisposition to infections UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010854 MONDO:0019287 False Toriello-Lacassie-Droste syndrome ectodermal dysplasia syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS +MONDO:0010855 MONDO:0015161 False short tarsus-absence of lower eyelashes syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010856 MONDO:0016894 False autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis partial deletion of the short arm of chromosome 16 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010856 MONDO:0019741 False autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis familial cystic renal disease UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010857 MONDO:0015059 False semantic dementia progressive non-fluent aphasia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010857 MONDO:0017160 False semantic dementia behavioral variant of frontotemporal dementia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010858 MONDO:0002320 False macrocephaly-spastic paraplegia-dysmorphism syndrome congenital nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010858 MONDO:0015159 False macrocephaly-spastic paraplegia-dysmorphism syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010858 MONDO:0019064 False macrocephaly-spastic paraplegia-dysmorphism syndrome hereditary spastic paraplegia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0010861 MONDO:0010255 False type 1 diabetes mellitus 3 diabetes mellitus, insulin-dependent, X-linked, susceptibility to UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0010862 MONDO:0010255 False type 1 diabetes mellitus 4 diabetes mellitus, insulin-dependent, X-linked, susceptibility to UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0010863 MONDO:0010255 False type 1 diabetes mellitus 5 diabetes mellitus, insulin-dependent, X-linked, susceptibility to UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0010864 MONDO:0010255 False type 1 diabetes mellitus 7 diabetes mellitus, insulin-dependent, X-linked, susceptibility to UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0010865 MONDO:0015159 False pseudoaminopterin syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010865 MONDO:0015338 False pseudoaminopterin syndrome syndromic craniosynostosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010866 MONDO:0017198 False infantile osteopetrosis with neuroaxonal dysplasia osteopetrosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0010867 MONDO:0015161 False PARC syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010868 MONDO:0020704 False rippling muscle disease 1 inherited rippling muscle disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010869 MONDO:0024257 False motor neuron disease with dementia and ophthalmoplegia hereditary motor neuron disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010870 MONDO:0016108 False tibial muscular dystrophy autosomal dominant distal myopathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010870 MONDO:0100494 False tibial muscular dystrophy autosomal dominant titinopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010871 MONDO:0003847 False succinic acidemia hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010872 MONDO:0003847 False parotid salivary glands, polycystic dysgenetic disease of hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -24508,271 +20177,439 @@ MONDO:0010875 MONDO:0003847 False pachydermodactyly, familial hereditary disease MONDO:0010876 MONDO:0019294 False recessive aplasia cutis congenita of limbs mixed dermis disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010877 MONDO:0002316 False Charcot-Marie-Tooth disease type 5 motor peripheral neuropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0010877 MONDO:0019064 False Charcot-Marie-Tooth disease type 5 hereditary spastic paraplegia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS +MONDO:0010877 MONDO:0020127 False Charcot-Marie-Tooth disease type 5 hereditary peripheral neuropathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010879 MONDO:0015161 False CODAS syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010879 MONDO:0016761 False CODAS syndrome spondyloepiphyseal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0010881 MONDO:0005516 False mesomelia-synostoses syndrome osteochondrodysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010881 MONDO:0016907 False mesomelia-synostoses syndrome partial deletion of the long arm of chromosome 8 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010881 MONDO:0018230 False mesomelia-synostoses syndrome skeletal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010882 MONDO:0018234 False aphalangy-syndactyly-microcephaly syndrome dysostosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010882 MONDO:0019054 False aphalangy-syndactyly-microcephaly syndrome congenital limb malformation UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010883 MONDO:0015161 False pectus excavatum-macrocephaly-dysplastic nails syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010884 MONDO:0001347 False muscular dystrophy, scapulohumeral facioscapulohumeral muscular dystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0010885 MONDO:0003847 False angiokeratoma corporis diffusum with arteriovenous fistulas hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010886 MONDO:0016901 False 2q37 microdeletion syndrome partial deletion of the long arm of chromosome 2 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010886 MONDO:0018230 False 2q37 microdeletion syndrome skeletal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010886 MONDO:0019054 False 2q37 microdeletion syndrome congenital limb malformation UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010887 MONDO:0019280 False isolated anterior cervical hypertrichosis hypertrichosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010888 MONDO:0000931 False adenomyosis endometrial disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0010889 MONDO:0005385 False arterial dissection-lentiginosis syndrome vascular disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010890 MONDO:0015159 False acrocardiofacial syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010891 MONDO:0002254 False lethal hemolytic anemia-genital anomalies syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010891 MONDO:0003664 False lethal hemolytic anemia-genital anomalies syndrome hemolytic anemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010895 MONDO:0006025 False ABCD syndrome autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0010896 MONDO:0003847 False pigment dispersion syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0010896 MONDO:0005328 False pigment dispersion syndrome eye disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0010897 MONDO:0005090 False schizophrenia 3 schizophrenia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS +MONDO:0010898 MONDO:0005115 False autosomal dominant epilepsy with auditory features temporal lobe epilepsy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0010899 MONDO:0020300 False autosomal dominant nocturnal frontal lobe epilepsy 1 autosomal dominant nocturnal frontal lobe epilepsy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0010900 MONDO:0019342 False intrauterine growth retardation with increased mitomycin c sensitivity Seckel syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0010901 MONDO:0002254 False HEC syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010902 MONDO:0016761 False spondyloepiphyseal dysplasia, Reardon type spondyloepiphyseal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010903 MONDO:0015469 False craniosynostosis, Adelaide type craniosynostosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0010904 MONDO:0003847 False setting-Sun phenomenon, familial benign hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010906 MONDO:0016044 False orofacial cleft 11 cleft lip/palate UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010907 MONDO:0017350 False familial hypertryptophanemia inborn disorder of tryptophan metabolism UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010908 MONDO:0004907 False loose anagen syndrome alopecia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0010908 MONDO:0021147 False loose anagen syndrome disorder of development or morphogenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010910 MONDO:0000022 False enuresis, nocturnal, 1 nocturnal enuresis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010910 MONDO:0003847 False enuresis, nocturnal, 1 hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010911 MONDO:0003430 False prolactin-producing pituitary gland adenoma prolactin producing pituitary tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0010911 MONDO:0017824 False prolactin-producing pituitary gland adenoma familial isolated pituitary adenoma UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010912 MONDO:0100154 False fibrosis of extraocular muscles, congenital, 3A, with or without extraocular involvement TUBB3-related tubulinopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010913 MONDO:0006322 False Caroli disease non-neoplastic bile duct disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010914 MONDO:0015515 False carnitine palmitoyl transferase II deficiency, severe infantile form carnitine palmitoyltransferase II deficiency UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010916 MONDO:0004691 False polycystic kidney disease 3 with or without polycystic liver disease autosomal dominant polycystic kidney disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0010917 MONDO:0001314 False chondrocalcinosis 1 chondrocalcinosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010918 MONDO:0020573 False epilepsy, idiopathic generalized, susceptibility to, 1 inherited disease susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010919 MONDO:0003847 False varicella, severe recurrent hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010920 MONDO:0019755 False microtia developmental defect during embryogenesis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010920 MONDO:0024623 False microtia otorhinolaryngologic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010921 MONDO:0002436 False nasal dermoid cyst nasal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010921 MONDO:0015380 False nasal dermoid cyst facial dermoid cyst UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010921 MONDO:0018751 False nasal dermoid cyst hereditary otorhinolaryngologic disease UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010922 MONDO:0004907 False Satoyoshi syndrome alopecia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010922 MONDO:0005020 False Satoyoshi syndrome intestinal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010922 MONDO:0019852 False Satoyoshi syndrome inherited primary ovarian failure UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0010923 MONDO:0005336 False proximal myopathy with focal depletion of mitochondria myopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010923 MONDO:0700223 False proximal myopathy with focal depletion of mitochondria hereditary skeletal muscle disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010924 MONDO:0016001 False D-2-hydroxyglutaric aciduria 2-hydroxyglutaric aciduria UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0010925 MONDO:0015161 False velo-facial-skeletal syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010927 MONDO:0007336 False orofacial cleft 3 isolated cleft palate UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS MONDO:0010927 MONDO:0016043 False orofacial cleft 3 isolated cleft lip UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010928 MONDO:0003847 False dwarfism, familial, with muscle spasms hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010929 MONDO:0015338 False craniosynostosis 4 syndromic craniosynostosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010930 MONDO:0002254 False anophthalmia plus syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010931 MONDO:0019642 False vitamin D-dependent rickets, type 2B vitamin D-dependent rickets, type 2 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010930 MONDO:0015161 False anophthalmia plus syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010931 MONDO:0800096 False vitamin D-dependent rickets, type 2B abnormal mineralization disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010932 MONDO:0019118 False progressive bifocal chorioretinal atrophy inherited retinal dystrophy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010936 MONDO:0017160 False frontotemporal dementia and/or amyotrophic lateral sclerosis 7 behavioral variant of frontotemporal dementia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010936 MONDO:0030923 False frontotemporal dementia and/or amyotrophic lateral sclerosis 7 frontotemporal dementia and/or amyotrophic lateral sclerosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0010937 MONDO:0003847 False isoproterenol-mediated vasodilatation hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010938 MONDO:0031520 False T-B+ severe combined immunodeficiency due to JAK3 deficiency familial severe combined immunodeficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0010938 MONDO:0044200 False T-B+ severe combined immunodeficiency due to JAK3 deficiency T-B+ severe combined immunodeficiency UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010939 MONDO:0002155 False low phospholipid associated cholelithiasis cholecystitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010940 MONDO:0020573 False inherited susceptibility to asthma inherited disease susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010941 MONDO:0000022 False nocturnal enuresis, 2 nocturnal enuresis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010941 MONDO:0003847 False nocturnal enuresis, 2 hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010943 MONDO:0100182 False schizophrenia 4 schizophrenia, susceptibility to UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010944 MONDO:0003847 False mitochondrial import-stimulating factor hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010946 MONDO:0800484 False hypertrophic cardiomyopathy 6 PRKAG2-related cardiomyopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010947 MONDO:0002405 False Budd-Chiari syndrome hepatic vascular disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010948 MONDO:0011060 False cataract 10 multiple types early-onset non-syndromic cataract UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0010949 MONDO:0018993 False Charcot-Marie-Tooth disease type 2B Charcot-Marie-Tooth disease type 2 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0010950 MONDO:0010255 False type 1 diabetes mellitus 8 diabetes mellitus, insulin-dependent, X-linked, susceptibility to UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0010952 MONDO:0003847 False hereditary hyperferritinemia with congenital cataracts hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0010952 MONDO:0005328 False hereditary hyperferritinemia with congenital cataracts eye disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0010954 MONDO:0021094 False Wiskott-Aldrich syndrome, autosomal dominant form immunodeficiency disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0010955 MONDO:0003847 False ectodermal dysplasia with intellectual disability and syndactyly hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010956 MONDO:0003847 False enamel hypoplasia, cataracts, and aqueductal stenosis hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010959 MONDO:0015161 False van den Ende-Gupta syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010959 MONDO:0015168 False van den Ende-Gupta syndrome arthrogryposis multiplex congenita UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS MONDO:0010960 MONDO:0003847 False protocadherin 3 hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010961 MONDO:0016553 False obesity due to prohormone convertase I deficiency isolated congenital hypogonadotropic hypogonadism UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010961 MONDO:0015770 False obesity due to prohormone convertase I deficiency congenital hypogonadotropic hypogonadism UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010961 MONDO:0019182 False obesity due to prohormone convertase I deficiency inherited obesity UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0010962 MONDO:0000426 False diffuse nonepidermolytic palmoplantar keratoderma autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0010962 MONDO:0017666 False diffuse nonepidermolytic palmoplantar keratoderma diffuse palmoplantar keratoderma UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010964 MONDO:0015627 False epiphyseal dysplasia, multiple, 3 multiple epiphyseal dysplasia due to collagen 9 anomaly UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0010966 MONDO:0000226 False achondrogenesis type IB mineral metabolism disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010966 MONDO:0019052 False achondrogenesis type IB inborn errors of metabolism UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0010968 MONDO:0020366 False glaucoma 3, primary infantile, B congenital glaucoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010970 MONDO:0003847 False cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0010971 MONDO:0002254 False infundibulopelvic stenosis-multicystic kidney syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010972 MONDO:0015160 False hydrocephalus-costovertebral dysplasia-Sprengel anomaly syndrome multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010974 MONDO:0019006 False nephrotic syndrome, type 2 familial idiopathic steroid-resistant nephrotic syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010977 MONDO:0005336 False Brody myopathy myopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0010977 MONDO:0016199 False Brody myopathy qualitative or quantitative defects of protein SERCA1 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010977 MONDO:0700223 False Brody myopathy hereditary skeletal muscle disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010978 MONDO:0003847 False portal vein, cavernous transformation of hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010979 MONDO:0000426 False Timothy syndrome autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0010979 MONDO:0019171 False Timothy syndrome familial long QT syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0010980 MONDO:0003847 False midline malformations, multiple, with limb abnormalities and hypopituitarism hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010981 MONDO:0015161 False absent tibia-polydactyly-arachnoid cyst syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010981 MONDO:0018234 False absent tibia-polydactyly-arachnoid cyst syndrome dysostosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010981 MONDO:0019054 False absent tibia-polydactyly-arachnoid cyst syndrome congenital limb malformation UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010982 MONDO:0003847 False ichthyosis-intellectual disability syndrome with large keratohyalin granules in the skin hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010983 MONDO:0016058 False dystonia 9 paroxysmal dystonia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010983 MONDO:0017706 False dystonia 9 disorder of carbohydrate transmembrane transport and absorption UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010984 MONDO:0010168 False Usher syndrome type 1D Usher syndrome type 1 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0010988 MONDO:0007145 False aplasia cutis-myopia syndrome aplasia cutis congenita UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0010989 MONDO:0017771 False Mayer-Rokitansky-Küster-Hauser syndrome type 2 Mayer-Rokitansky-Kuster-Hauser syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0010991 MONDO:0018677 False laterality defects, autosomal dominant visceral heterotaxy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0010992 MONDO:0002254 False Ayme-Gripp syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0010992 MONDO:0003847 False Ayme-Gripp syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0010992 MONDO:0015159 False Ayme-Gripp syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010993 MONDO:0015159 False Harrod syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010995 MONDO:0019011 False Charcot-Marie-Tooth disease type 1C Charcot-Marie-Tooth disease type 1 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0010997 MONDO:0019037 False supranuclear palsy, progressive, 1 progressive supranuclear palsy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010997 MONDO:0024237 False supranuclear palsy, progressive, 1 inherited neurodegenerative disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010998 MONDO:0017740 False ALG3-congenital disorder of glycosylation disorder of protein N-glycosylation UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010999 MONDO:0015159 False fallot complex-intellectual disability-growth delay syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011000 MONDO:0003847 False guanylate cyclase 2E hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011002 MONDO:0002316 False neuropathy, hereditary motor and sensory, type 6A motor peripheral neuropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011002 MONDO:0019551 False neuropathy, hereditary motor and sensory, type 6A hereditary motor and sensory neuropathy type 6 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011003 MONDO:0002254 False dilated cardiomyopathy 1E syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0011004 MONDO:0015148 False lissencephaly type 3-metacarpal bone dysplasia syndrome lissencephaly type 3 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011005 MONDO:0003847 False trisomy 18-like syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011006 MONDO:0015091 False hereditary spastic paraplegia 9A autosomal dominant spastic paraplegia type 9 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011007 MONDO:0002254 False diaphragmatic defect-limb deficiency-skull defect syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011007 MONDO:0015161 False diaphragmatic defect-limb deficiency-skull defect syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011008 MONDO:0015161 False cleft lip/palate-intestinal malrotation-cardiopathy syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011009 MONDO:0003847 False muscular dystrophy, congenital, with severe central nervous system atrophy and absence of large myelinated fibers hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011010 MONDO:0015161 False Matthew-Wood syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011010 MONDO:0015929 False Matthew-Wood syndrome thoracic malformation UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011011 MONDO:0002254 False skeletal dysplasia-epilepsy-short stature syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011011 MONDO:0018230 False skeletal dysplasia-epilepsy-short stature syndrome skeletal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011011 MONDO:0019054 False skeletal dysplasia-epilepsy-short stature syndrome congenital limb malformation UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011014 MONDO:0003847 False pleuropulmonary blastoma hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0011014 MONDO:0005933 False pleuropulmonary blastoma pulmonary blastoma UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0011014 MONDO:0006517 False pleuropulmonary blastoma childhood malignant neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011015 MONDO:0020373 False cataract 24 early-onset anterior polar cataract UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011016 MONDO:0010255 False type 1 diabetes mellitus 11 diabetes mellitus, insulin-dependent, X-linked, susceptibility to UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0011017 MONDO:0005217 False Naxos disease familial cardiomyopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011017 MONDO:0006025 False Naxos disease autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0011017 MONDO:0016587 False Naxos disease arrhythmogenic right ventricular cardiomyopathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0011017 MONDO:0100080 False Naxos disease cardioectodermal syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011018 MONDO:0016761 False brachyolmia-amelogenesis imperfecta syndrome spondyloepiphyseal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0011019 MONDO:0004907 False alopecia-intellectual disability-hypergonadotropic hypogonadism syndrome alopecia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011020 MONDO:0002081 False osteoporosis-oculocutaneous hypopigmentation syndrome musculoskeletal system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011020 MONDO:0003847 False osteoporosis-oculocutaneous hypopigmentation syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011021 MONDO:0000858 False neuronal intestinal dysplasia, type B neuronal intestinal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0011021 MONDO:0017574 False neuronal intestinal dysplasia, type B chronic intestinal pseudoobstruction UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011022 MONDO:0015160 False Potocki-Shaffer syndrome multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011022 MONDO:0016893 False Potocki-Shaffer syndrome partial deletion of the short arm of chromosome 11 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011023 MONDO:0004335 False hereditary mixed polyposis syndrome digestive system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0011023 MONDO:0015185 False hereditary mixed polyposis syndrome intestinal polyposis syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011024 MONDO:0015614 False dermatitis herpetiformis, familial dermatitis herpetiformis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011024 MONDO:0100118 False dermatitis herpetiformis, familial hereditary skin disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011025 MONDO:0020043 False Cayman type cerebellar ataxia autosomal recessive congenital cerebellar ataxia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011026 MONDO:0017778 False autosomal recessive congenital ichthyosis 4A lamellar ichthyosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011027 MONDO:0005148 False diabetes mellitus, noninsulin-dependent, 1 type 2 diabetes mellitus UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0011027 MONDO:0015967 False diabetes mellitus, noninsulin-dependent, 1 monogenic diabetes UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011028 MONDO:0016144 False autosomal recessive limb-girdle muscular dystrophy type 2F qualitative or quantitative defects of delta-sarcoglycan UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011028 MONDO:0016333 False autosomal recessive limb-girdle muscular dystrophy type 2F familial dilated cardiomyopathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0011029 MONDO:0003847 False myeloid tumor suppressor hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011030 MONDO:0003847 False epithelial basolateral chloride conductance regulator, rabbit, homolog of hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011033 MONDO:0010255 False type 1 diabetes mellitus 13 diabetes mellitus, insulin-dependent, X-linked, susceptibility to UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0011034 MONDO:0019287 False odontomicronychial dysplasia ectodermal dysplasia syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0011035 MONDO:0019755 False neurofibromatosis-Noonan syndrome developmental defect during embryogenesis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011035 MONDO:0021060 False neurofibromatosis-Noonan syndrome RASopathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0011035 MONDO:0021061 False neurofibromatosis-Noonan syndrome neurofibromatosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0011036 MONDO:0005071 False porencephaly-cerebellar hypoplasia-internal malformations syndrome nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011037 MONDO:0020573 False renal dysplasia, cystic, susceptibility to inherited disease susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011038 MONDO:0014720 False cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome autosomal dominant optic atrophy plus syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011038 MONDO:0019792 False cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome autosomal dominant cerebellar ataxia type I UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011038 MONDO:0700002 False cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome ATP1A3-associated neurological disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011039 MONDO:0003847 False atrophia maculosa varioliformis cutis, familial hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011040 MONDO:0003847 False spinal dysplasia, Anhalt type hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011041 MONDO:0019287 False ectodermal dysplasia with natal teeth, Turnpenny type ectodermal dysplasia syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0011042 MONDO:0003847 False Martinez-Frias syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011043 MONDO:0003847 False myelodysplasia, immunodeficiency, facial dysmorphism, short stature, and psychomotor delay hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011044 MONDO:0003847 False ectrodactyly of lower limbs, congenital heart defect, and micrognathia hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011045 MONDO:0015159 False MMEP syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011046 MONDO:0002081 False short stature, Brussels type musculoskeletal system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011046 MONDO:0003847 False short stature, Brussels type hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011047 MONDO:0003847 False deafness-epiphyseal dysplasia-short stature syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011048 MONDO:0015159 False epilepsy-microcephaly-skeletal dysplasia syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011049 MONDO:0015159 False Fine-Lubinsky syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011050 MONDO:0005267 False microcephaly-cardiac defect-lung malsegmentation syndrome heart disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011050 MONDO:0015161 False microcephaly-cardiac defect-lung malsegmentation syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011051 MONDO:0016357 False lethal short-limb skeletal dysplasia, Al Gazali type dysplastic cortical hyperostosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011052 MONDO:0002254 False amelia cleft lip palate hydrocephalus iris coloboma syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011052 MONDO:0003847 False amelia cleft lip palate hydrocephalus iris coloboma hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011053 MONDO:0000508 False intellectual disability-sparse hair-brachydactyly syndrome syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011053 MONDO:0002320 False intellectual disability-sparse hair-brachydactyly syndrome congenital nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011053 MONDO:0015159 False intellectual disability-sparse hair-brachydactyly syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011053 MONDO:0700120 False intellectual disability-sparse hair-brachydactyly syndrome BAFopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011054 MONDO:0006025 False autosomal recessive amelia autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011054 MONDO:0018234 False autosomal recessive amelia dysostosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011054 MONDO:0019054 False autosomal recessive amelia congenital limb malformation UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011055 MONDO:0003847 False distal monosomy 10p hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011055 MONDO:0016892 False distal monosomy 10p partial deletion of the short arm of chromosome 10 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011057 MONDO:0043218 False cerebrovascular disorder neurovascular disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011059 MONDO:0015338 False holoprosencephaly-craniosynostosis syndrome syndromic craniosynostosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011060 MONDO:0005129 False early-onset non-syndromic cataract cataract UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0011061 MONDO:0001595 False chorea, remitting, with nystagmus and cataract choreatic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011061 MONDO:0003847 False chorea, remitting, with nystagmus and cataract hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011062 MONDO:0020022 False aprosencephaly cerebellar dysgenesis central nervous system malformation UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011063 MONDO:0019287 False hidrotic ectodermal dysplasia, Christianson-Fourie type ectodermal dysplasia syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0011064 MONDO:0005516 False lethal chondrodysplasia, Seller type osteochondrodysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011064 MONDO:0018230 False lethal chondrodysplasia, Seller type skeletal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011065 MONDO:0015338 False Hunter-McAlpine craniosynostosis syndromic craniosynostosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011066 MONDO:0018995 False Charcot-Marie-Tooth disease type 4B1 Charcot-Marie-Tooth disease type 4 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0011068 MONDO:0010255 False type 1 diabetes mellitus 12 diabetes mellitus, insulin-dependent, X-linked, susceptibility to UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0011069 MONDO:0003847 False cervical ribs, Sprengel anomaly, anal atresia, and urethral obstruction hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011071 MONDO:0015356 False hereditary thrombocytopenia and hematologic cancer predisposition syndrome hereditary neoplastic syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011071 MONDO:0021181 False hereditary thrombocytopenia and hematologic cancer predisposition syndrome inherited blood coagulation disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011071 MONDO:0060782 False hereditary thrombocytopenia and hematologic cancer predisposition syndrome premalignant hematological system disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011072 MONDO:0005148 False diabetes mellitus, noninsulin-dependent, 2 type 2 diabetes mellitus UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0011072 MONDO:0015967 False diabetes mellitus, noninsulin-dependent, 2 monogenic diabetes UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011073 MONDO:0020525 False diabetes mellitus, transient neonatal, 1 transient neonatal diabetes mellitus UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011076 MONDO:0002320 False myofibrillar myopathy 1 congenital nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0011076 MONDO:0016187 False myofibrillar myopathy 1 qualitative or quantitative defects of desmin UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011076 MONDO:0016333 False myofibrillar myopathy 1 familial dilated cardiomyopathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0011076 MONDO:0019056 False myofibrillar myopathy 1 neuromuscular disease UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0011077 MONDO:0003847 False microcephaly, corpus callosum dysgenesis, and cleft lip/palate hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011078 MONDO:0003847 False anterior chamber cleavage disorder, cerebellar hypoplasia, hypothyroidism, and tracheal stenosis hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011079 MONDO:0018230 False rhizomelic dysplasia, Patterson-Lowry type skeletal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011080 MONDO:0003847 False progressive deafness with stapes fixation hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011081 MONDO:0015161 False dislocation of the hip-dysmorphism syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011082 MONDO:0016643 False oculoauriculofrontonasal syndrome frontonasal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0011083 MONDO:0019287 False trichodental syndrome ectodermal dysplasia syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0011084 MONDO:0100171 False psoriasis 3, susceptibility to psoriasis, susceptibility to UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011085 MONDO:0018995 False Charcot-Marie-Tooth disease type 4D Charcot-Marie-Tooth disease type 4 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0011086 MONDO:0017855 False severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive T-B- severe combined immunodeficiency UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011086 MONDO:0031520 False severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive familial severe combined immunodeficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0011088 MONDO:0020344 False congenital myasthenic syndrome 1A postsynaptic congenital myasthenic syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011089 MONDO:0003847 False patent ductus venosus hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011090 MONDO:0002320 False isolated hereditary congenital facial paralysis congenital nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011090 MONDO:0003847 False isolated hereditary congenital facial paralysis hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011091 MONDO:0018993 False Charcot-Marie-Tooth disease type 2D Charcot-Marie-Tooth disease type 2 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0011092 MONDO:0003847 False ribbing disease hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011093 MONDO:0005381 False mucopolysaccharidosis type 9 bone disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0011096 MONDO:0016462 False autosomal agammaglobulinemia isolated agammaglobulinemia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011098 MONDO:0023122 False prostate cancer, hereditary, 1 familial prostate carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0011099 MONDO:0002254 False human HOXA1 syndromes syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0011099 MONDO:0006025 False human HOXA1 syndromes autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0011100 MONDO:0003847 False microcephaly, retinitis pigmentosa, and sutural cataract hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011101 MONDO:0100259 False peroxisome biogenesis disorder 1B peroxisome biogenesis disorder due to PEX1 defect UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011105 MONDO:0019627 False alacrima, congenital, autosomal recessive isolated congenital alacrima UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011106 MONDO:0001176 False facial dysmorphism-lens dislocation-anterior segment abnormalities-spontaneous filtering blebs syndrome lens disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011106 MONDO:0003847 False facial dysmorphism-lens dislocation-anterior segment abnormalities-spontaneous filtering blebs syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011107 MONDO:0003037 False congenital hypotrichosis with juvenile macular dystrophy hypotrichosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS +MONDO:0011107 MONDO:0019287 False congenital hypotrichosis with juvenile macular dystrophy ectodermal dysplasia syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS +MONDO:0011109 MONDO:0016648 False multiple epiphyseal dysplasia, Lowry type multiple epiphyseal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0011110 MONDO:0002254 False dyssegmental dysplasia-glaucoma syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011110 MONDO:0005328 False dyssegmental dysplasia-glaucoma syndrome eye disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011113 MONDO:0018995 False Charcot-Marie-Tooth disease type 4C Charcot-Marie-Tooth disease type 4 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0011114 MONDO:0011512 False familial multiple trichoepithelioma Brooke-Spiegler syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011115 MONDO:0003847 False spastic paraplegia and Evans syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011116 MONDO:0002254 False lung agenesis-heart defect-thumb anomalies syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011116 MONDO:0005087 False lung agenesis-heart defect-thumb anomalies syndrome respiratory system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011116 MONDO:0021147 False lung agenesis-heart defect-thumb anomalies syndrome disorder of development or morphogenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011117 MONDO:0003847 False iris pigment epithelium anomalies hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011119 MONDO:0019503 False iridogoniodysgenesis anterior segment dysgenesis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0011120 MONDO:0019351 False neural tube defects, folate-sensitive isolated spina bifida UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011121 MONDO:0002714 False paragangliomas 2 central nervous system cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011121 MONDO:0002817 False paragangliomas 2 adrenal gland cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011121 MONDO:0006295 False paragangliomas 2 malignant urinary system neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011121 MONDO:0017366 False paragangliomas 2 hereditary pheochromocytoma-paraganglioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011121 MONDO:0021089 False paragangliomas 2 peripheral nervous system cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011122 MONDO:0003916 False obesity disorder overnutrition UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0011123 MONDO:0010255 False type 1 diabetes mellitus 15 diabetes mellitus, insulin-dependent, X-linked, susceptibility to UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0011124 MONDO:0100510 False spondyloepimetaphyseal dysplasia-abnormal dentition syndrome spondyloepimetaphyseal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011125 MONDO:0002470 False trichothiodystrophy 1, photosensitive photosensitive trichothiodystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0011126 MONDO:0003847 False acute insulin response hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011126 MONDO:0020683 False acute insulin response acute disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011128 MONDO:0019942 False Sheldon-hall syndrome distal arthrogryposis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0011129 MONDO:0005338 False glaucoma type 1C open-angle glaucoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011129 MONDO:0020366 False glaucoma type 1C congenital glaucoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011130 MONDO:0003847 False sebaceous gland hyperplasia, familial presenile hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011131 MONDO:0019287 False tricho-oculo-dermo-vertebral syndrome ectodermal dysplasia syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0011132 MONDO:0015974 False T-cell immunodeficiency, congenital alopecia, and nail dystrophy severe combined immunodeficiency UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0011133 MONDO:0019290 False deaf blind hypopigmentation syndrome, Yemenite type hypopigmentation of the skin UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011134 MONDO:0015160 False Curry-Jones syndrome multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011134 MONDO:0015338 False Curry-Jones syndrome syndromic craniosynostosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011135 MONDO:0003847 False superior transverse scapular ligament, calcification of, familial hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011136 MONDO:0020117 False Quebec platelet disorder alpha granule disease UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011137 MONDO:0800406 False retinitis pigmentosa 19 ABCA4-related retinopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011138 MONDO:0020573 False systemic lupus erythematosus, susceptibility to, 1 inherited disease susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011139 MONDO:0016018 False preaxial hallucal polydactyly diabetic embryopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011141 MONDO:0003847 False megaloblastic anemia, folate-responsive hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011142 MONDO:0005267 False Ehlers-Danlos syndrome, musculocontractural type heart disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011142 MONDO:0015286 False Ehlers-Danlos syndrome, musculocontractural type congenital disorder of glycosylation UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011142 MONDO:0015327 False Ehlers-Danlos syndrome, musculocontractural type developmental anomaly of metabolic origin UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011142 MONDO:0019942 False Ehlers-Danlos syndrome, musculocontractural type distal arthrogryposis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011142 MONDO:0020066 False Ehlers-Danlos syndrome, musculocontractural type Ehlers-Danlos syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011143 MONDO:0100454 False cone-rod dystrophy 6 GUCY2D retinopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011144 MONDO:0008768 False ceroid lipofuscinosis, neuronal, 6A ceroid lipofuscinosis, neuronal, 6B (Kufs type) UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS -MONDO:0011146 MONDO:0002254 False tetrasomy 12p syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011147 MONDO:0002254 False chromosome 18q deletion syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0011144 MONDO:0015674 False ceroid lipofuscinosis, neuronal, 6A late infantile neuronal ceroid lipofuscinosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011145 MONDO:0015159 False colobomatous microphthalmia - obesity - hypogenitalism - intellectual disability syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011146 MONDO:0016933 False tetrasomy 12p partial trisomy/tetrasomy of the short arm of chromosome 12 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011146 MONDO:0019716 False tetrasomy 12p overgrowth syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011147 MONDO:0016880 False chromosome 18q deletion syndrome partial deletion of chromosome 18 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011148 MONDO:0003847 False Spondylospinal thoracic dysostosis hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011149 MONDO:0019303 False premature aging syndrome, Okamoto type premature aging syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011150 MONDO:0003847 False acroosteolysis-keloid-like lesions-premature aging syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011150 MONDO:0019303 False acroosteolysis-keloid-like lesions-premature aging syndrome premature aging syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011151 MONDO:0700228 False exudative vitreoretinopathy 4 LRP5-related exudative vitreoretinopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011152 MONDO:0018491 False PHGDH deficiency 3-phosphoglycerate dehydrogenase deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011153 MONDO:0019010 False hyperinsulinemic hypoglycemia, familial, 2 congenital isolated hyperinsulinism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011154 MONDO:0018237 False acrofacial dysostosis, Palagonia type acrofacial dysostosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0011155 MONDO:0003847 False vacuolar Neuromyopathy hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011156 MONDO:0011559 False progressive familial intrahepatic cholestasis type 2 benign recurrent intrahepatic cholestasis type 2 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS +MONDO:0011157 MONDO:0020022 False Gomez-Lopez-Hernandez syndrome central nervous system malformation UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011158 MONDO:0017979 False autoimmune lymphoproliferative syndrome type 1 autoimmune lymphoproliferative syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011161 MONDO:0003847 False sperm-specific antigen 1 hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011162 MONDO:0011060 False cataract 14 multiple types early-onset non-syndromic cataract UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0011166 MONDO:0002254 False lymphedema-atrial septal defects-facial changes syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011166 MONDO:0019175 False lymphedema-atrial septal defects-facial changes syndrome primary lymphedema UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011167 MONDO:0010255 False type 1 diabetes mellitus 6 diabetes mellitus, insulin-dependent, X-linked, susceptibility to UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0011168 MONDO:0010255 False type 1 diabetes mellitus 10 diabetes mellitus, insulin-dependent, X-linked, susceptibility to UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0011169 MONDO:0019268 False keratosis linearis-ichthyosis congenita-sclerosing keratoderma syndrome epidermal disease UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011169 MONDO:0100118 False keratosis linearis-ichthyosis congenita-sclerosing keratoderma syndrome hereditary skin disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011170 MONDO:0016192 False autosomal recessive limb-girdle muscular dystrophy type 2G qualitative or quantitative defects of telethonin UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011171 MONDO:0019287 False odonto-tricho-ungual-digito-palmar syndrome ectodermal dysplasia syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0011172 MONDO:0003847 False otofacioosseous-gonadal syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011174 MONDO:0003847 False hyperzincemia with functional zinc depletion hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011175 MONDO:0100339 False Friedreich ataxia 2 Friedreich ataxia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0011176 MONDO:0017626 False intestinal hypomagnesemia 1 familial primary hypomagnesemia with normocalcuria UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011178 MONDO:0002254 False infantile convulsions and choreoathetosis syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011177 MONDO:0019071 False ectodermal dysplasia 4, hair/nail type pure hair and nail ectodermal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0011178 MONDO:0015427 False infantile convulsions and choreoathetosis paroxysmal dyskinesia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011178 MONDO:0015642 False infantile convulsions and choreoathetosis benign partial infantile seizures UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011178 MONDO:0015653 False infantile convulsions and choreoathetosis monogenic epilepsy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011179 MONDO:0020573 False leishmaniasis, tegumentary, susceptibility to inherited disease susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011180 MONDO:0003847 False broad terminal phalanges, familial hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011181 MONDO:0002320 False fibrosis of extraocular muscles, congenital, 2 congenital nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0011182 MONDO:0011610 False trimethylaminuria dimethylglycine dehydrogenase deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011183 MONDO:0019707 False Paget disease of bone 2, early-onset primary osteolysis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011184 MONDO:0003847 False childhood apraxia of speech hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0011184 MONDO:0016226 False childhood apraxia of speech specific language disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011185 MONDO:0000764 False Thiel-Behnke corneal dystrophy epithelial-stromal TGFBI dystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0011185 MONDO:0020212 False Thiel-Behnke corneal dystrophy superficial corneal dystrophy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011186 MONDO:0010168 False Usher syndrome type 1F Usher syndrome type 1 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0011187 MONDO:0019673 False polydactyly, postaxial, type A2 postaxial polydactyly type A UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011191 MONDO:0002407 False capillary infantile hemangioma capillary hemangioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011191 MONDO:0003847 False capillary infantile hemangioma hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011193 MONDO:0000455 False cone dystrophy 3 cone dystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0011194 MONDO:0015140 False Alzheimer disease 5 early-onset autosomal dominant Alzheimer disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011195 MONDO:0010168 False Usher syndrome type 1E Usher syndrome type 1 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0011196 MONDO:0017593 False amyotrophic lateral sclerosis type 5 juvenile amyotrophic lateral sclerosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011197 MONDO:0015358 False hereditary thermosensitive neuropathy hereditary motor and sensory neuropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011198 MONDO:0100510 False spondyloepimetaphyseal dysplasia, Missouri type spondyloepimetaphyseal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0011199 MONDO:0013433 False nephropathy, progressive tubulointerstitial, with cholestatic liver disease primary sclerosing cholangitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0011200 MONDO:0000477 False torsion dystonia 7 focal dystonia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0011202 MONDO:0002254 False RHYNS syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011202 MONDO:0015962 False RHYNS syndrome inherited renal tubular disease UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011202 MONDO:0024458 False RHYNS syndrome disorder of visual system UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011203 MONDO:0002254 False Pierre Robin sequence with pectus excavatum and rib and scapular anomalies syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011205 MONDO:0003847 False medium chain 3-ketoacyl-Coa thiolase deficiency hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011206 MONDO:0003847 False ventriculomegaly with defects of the radius and kidney hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011207 MONDO:0020573 False xanthomatosis, susceptibility to inherited disease susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011208 MONDO:0019293 False malignant atrophic papulosis skin vascular disease UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011209 MONDO:0003847 False progeroid facial appearance with hand anomalies hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011210 MONDO:0003847 False mitochondrial intermembrane space protein Tim12, yeast, homolog of hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011211 MONDO:0019691 False axial spondylometaphyseal dysplasia short rib dysplasia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011212 MONDO:0003847 False sensorineural hearing loss, retinal pigment epithelium lesions, discolored teeth hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011213 MONDO:0000508 False Pierpont syndrome syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0011213 MONDO:0002320 False Pierpont syndrome congenital nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0011213 MONDO:0003847 False Pierpont syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0011213 MONDO:0015159 False Pierpont syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011213 MONDO:0019296 False Pierpont syndrome subcutaneous tissue disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011215 MONDO:0800063 False osteocraniostenosis primordial dwarfism and slender bone disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011216 MONDO:0019257 False hemochromatosis type 2A hemochromatosis type 2 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0011217 MONDO:0019702 False desmosterolosis neonatal osteosclerotic dysplasia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011217 MONDO:0045017 False desmosterolosis cholesterol biosynthetic process disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011220 MONDO:0017279 False parkinson disease 3, autosomal dominant young-onset Parkinson disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0011221 MONDO:0003847 False Weyers ulnar ray/oligodactyly syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011224 MONDO:0020129 False monomelic amyotrophy acquired motor neuron disease UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011225 MONDO:0017855 False severe combined immunodeficiency due to DCLRE1C deficiency T-B- severe combined immunodeficiency UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011225 MONDO:0021190 False severe combined immunodeficiency due to DCLRE1C deficiency DNA repair disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011225 MONDO:0031520 False severe combined immunodeficiency due to DCLRE1C deficiency familial severe combined immunodeficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0011227 MONDO:0005172 False short stature-auditory canal atresia-mandibular hypoplasia-skeletal anomalies syndrome skeletal system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011227 MONDO:0015161 False short stature-auditory canal atresia-mandibular hypoplasia-skeletal anomalies syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011227 MONDO:0018751 False short stature-auditory canal atresia-mandibular hypoplasia-skeletal anomalies syndrome hereditary otorhinolaryngologic disease UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011228 MONDO:0003847 False creases, infra-auricular cutaneous, with tall stature and advanced bone age hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011229 MONDO:0044970 False ethylmalonic encephalopathy mitochondrial disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011229 MONDO:0100198 False ethylmalonic encephalopathy Mendelian encephalopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011230 MONDO:0005172 False ossification of the posterior longitudinal ligament of the spine skeletal system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011230 MONDO:0023603 False ossification of the posterior longitudinal ligament of the spine hereditary disorder of connective tissue UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011231 MONDO:0000032 False febrile seizures, familial, 2 febrile seizures, familial UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0011233 MONDO:0100235 False Axenfeld-Rieger syndrome type 3 FOXC1-related anterior segment dysgenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011235 MONDO:0018230 False pelvic dysplasia-arthrogryposis of lower limbs syndrome skeletal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011235 MONDO:0018234 False pelvic dysplasia-arthrogryposis of lower limbs syndrome dysostosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011236 MONDO:0015624 False hyperinsulinism due to glucokinase deficiency diazoxide-sensitive diffuse hyperinsulinism UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011236 MONDO:0017688 False hyperinsulinism due to glucokinase deficiency disorder of glycolysis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011237 MONDO:0020573 False hyperlipidemia, combined, 1 inherited disease susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011238 MONDO:0007321 False chondrodysplasia punctata, brachytelephalangic, autosomal autosomal dominant chondrodysplasia punctata UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0011239 MONDO:0002254 False colobomatous macrophthalmia-microcornea syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011239 MONDO:0024458 False colobomatous macrophthalmia-microcornea syndrome disorder of visual system UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011240 MONDO:0003847 False megalencephaly-capillary malformation-polymicrogyria syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011240 MONDO:0100283 False megalencephaly-capillary malformation-polymicrogyria syndrome overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011241 MONDO:0003847 False pseudoacromegaly with severe insulin resistance hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011242 MONDO:0019524 False Bartter disease type 4A Bartter syndrome type 4 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011243 MONDO:0003847 False grange syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011243 MONDO:0015161 False grange syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011244 MONDO:0002254 False Marshall-Smith syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0011244 MONDO:0015160 False Marshall-Smith syndrome multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011244 MONDO:0018230 False Marshall-Smith syndrome skeletal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011244 MONDO:0019716 False Marshall-Smith syndrome overgrowth syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011245 MONDO:0018781 False ichthyosis, hystrix-like, with hearing loss KID syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0011246 MONDO:0018117 False megaconial type congenital muscular dystrophy disorder of phospholipids, sphingolipids and fatty acids biosynthesis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011246 MONDO:0019950 False megaconial type congenital muscular dystrophy congenital muscular dystrophy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0011247 MONDO:0003847 False jejunal atresia with renal adysplasia hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011248 MONDO:0002254 False distal monosomy 13q syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011248 MONDO:0016911 False distal monosomy 13q partial deletion of the long arm of chromosome 13 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011249 MONDO:0007492 False torsion dystonia with onset in infancy early-onset generalized limb-onset dystonia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS MONDO:0011250 MONDO:0003847 False microcephaly, macrotia, and intellectual disability hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011251 MONDO:0003847 False facial dysmorphism, cleft palate, hearing loss, and camptodactyly hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011252 MONDO:0100510 False spondyloepimetaphyseal dysplasia, Shohat type spondyloepimetaphyseal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011253 MONDO:0015338 False craniomicromelic syndrome syndromic craniosynostosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011254 MONDO:0003847 False brachydactyly, intraventricular septal defect, and deafness hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011255 MONDO:0015483 False mandibulofacial dysostosis-macroblepharon-macrostomia syndrome mandibulofacial dysostosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011255 MONDO:0018234 False mandibulofacial dysostosis-macroblepharon-macrostomia syndrome dysostosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011256 MONDO:0003847 False emphysema, congenital, with deafness, penoscrotal web, and intellectual disability hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011257 MONDO:0002254 False MPI-congenital disorder of glycosylation syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0011257 MONDO:0017740 False MPI-congenital disorder of glycosylation disorder of protein N-glycosylation UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011257 MONDO:0019313 False MPI-congenital disorder of glycosylation lymphatic malformation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS MONDO:0011258 MONDO:0003847 False branchiootic syndrome 1 hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011258 MONDO:0018878 False branchiootic syndrome 1 branchiootic syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -24781,7 +20618,10 @@ MONDO:0011260 MONDO:0003847 False pancreatic lymphoma, familial hereditary disea MONDO:0011261 MONDO:0016761 False spondyloepiphyseal dysplasia with coronal craniosynostosis, cataracts, cleft palate, and intellectual disability spondyloepiphyseal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0011262 MONDO:0002254 False camptodactyly, myopia, and fibrosis of the medial rectus muscle of eye syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011262 MONDO:0003847 False camptodactyly, myopia, and fibrosis of the medial rectus muscle of eye hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011262 MONDO:0015161 False camptodactyly, myopia, and fibrosis of the medial rectus muscle of eye multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011262 MONDO:0018234 False camptodactyly, myopia, and fibrosis of the medial rectus muscle of eye dysostosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011263 MONDO:0003847 False skeletal dysplasia and progressive central nervous system degeneration, lethal hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011264 MONDO:0000476 False torsion dystonia 6 generalized dystonia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0011267 MONDO:0003847 False intellectual disability, severe, with spasticity and pigmentary tapetoretinal degeneration hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011268 MONDO:0001909 False renal tubular acidosis, distal, 3, with or without sensorineural hearing loss renal tubular acidosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011268 MONDO:0015962 False renal tubular acidosis, distal, 3, with or without sensorineural hearing loss inherited renal tubular disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -24794,17 +20634,34 @@ MONDO:0011271 MONDO:0100100 False rigid spine muscular dystrophy 1 SELENON-relat MONDO:0011272 MONDO:0800391 False retinitis pigmentosa 25 EYS-related retinopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011273 MONDO:0004382 False H syndrome laryngeal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0011273 MONDO:0006412 False H syndrome sinus histiocytosis with massive lymphadenopathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011273 MONDO:0019289 False H syndrome hyperpigmentation of the skin UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011273 MONDO:0100118 False H syndrome hereditary skin disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011274 MONDO:0015338 False Muenke syndrome syndromic craniosynostosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011280 MONDO:0100182 False schizophrenia 6 schizophrenia, susceptibility to UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011282 MONDO:0003847 False tumor suppressor gene on chromosome 11 hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011284 MONDO:0004892 False astigmatism refractive error UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0011287 MONDO:0015338 False craniosynostosis-anal anomalies-porokeratosis syndrome syndromic craniosynostosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011288 MONDO:0003847 False spastic paraplegia, optic atrophy, microcephaly, and 10Y sex reversal hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011289 MONDO:0003847 False apraxia of eyelid opening hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011290 MONDO:0003847 False dislocated elbows, bowed tibias, scoliosis, deafness, cataract, microcephaly, and intellectual disability hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011291 MONDO:0017740 False ALG6-congenital disorder of glycosylation 1C disorder of protein N-glycosylation UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011294 MONDO:0005090 False schizophrenia 5 schizophrenia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS +MONDO:0011295 MONDO:0005090 False schizophrenia 7 schizophrenia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS MONDO:0011296 MONDO:0800066 False Meckel syndrome, type 2 polydactyly-syndactyly-triphalangism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011297 MONDO:0020300 False autosomal dominant nocturnal frontal lobe epilepsy 2 autosomal dominant nocturnal frontal lobe epilepsy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0011298 MONDO:0005090 False schizophrenia 8 schizophrenia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS +MONDO:0011299 MONDO:0005429 False Huntington disease-like 1 prion disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0011299 MONDO:0024237 False Huntington disease-like 1 inherited neurodegenerative disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011301 MONDO:0019992 False pseudohypoparathyroidism type 1B pseudohypoparathyroidism UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0011301 MONDO:0800466 False pseudohypoparathyroidism type 1B disorder of GNAS inactivation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011302 MONDO:0010255 False type 1 diabetes mellitus 17 diabetes mellitus, insulin-dependent, X-linked, susceptibility to UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0011303 MONDO:0019006 False focal segmental glomerulosclerosis 1 familial idiopathic steroid-resistant nephrotic syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011306 MONDO:0003847 False muscular dystrophy, congenital, with cerebellar atrophy hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011307 MONDO:0005090 False schizophrenia 2 schizophrenia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS +MONDO:0011308 MONDO:0003847 False GRACILE syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0011308 MONDO:0044970 False GRACILE syndrome mitochondrial disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011309 MONDO:0003847 False familial gestational hyperthyroidism hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0011309 MONDO:0004425 False familial gestational hyperthyroidism hyperthyroidism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0011309 MONDO:0024575 False familial gestational hyperthyroidism pregnancy disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011310 MONDO:0003847 False long chain fatty acids, defect in transport of hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011312 MONDO:0017895 False thyroid carcinoma, nonmedullary, with or without cell oxyphilia familial papillary or follicular thyroid carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -24820,11 +20677,19 @@ MONDO:0011323 MONDO:0003847 False arhinia, choanal atresia, and microphthalmia h MONDO:0011326 MONDO:0016603 False citrullinemia, type II, adult-onset citrullinemia type II UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011327 MONDO:0005395 False neuronal intranuclear inclusion disease movement disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0011327 MONDO:0015547 False neuronal intranuclear inclusion disease hereditary dementia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011327 MONDO:0024237 False neuronal intranuclear inclusion disease inherited neurodegenerative disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011330 MONDO:0019794 False spinocerebellar ataxia type 10 autosomal dominant cerebellar ataxia type IV UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011331 MONDO:0002037 False congenital chylothorax pleural disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0011331 MONDO:0017015 False congenital chylothorax primary interstitial lung disease specific to childhood UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011332 MONDO:0003847 False Dyserythropoiesis, congenital, with ultrastructurally normal erythroblast heterochromatin hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011334 MONDO:0019287 False limb-mammary syndrome ectodermal dysplasia syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0011335 MONDO:0000426 False spondyloepimetaphyseal dysplasia with multiple dislocations autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0011338 MONDO:0017855 False Omenn syndrome T-B- severe combined immunodeficiency UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011338 MONDO:0031520 False Omenn syndrome familial severe combined immunodeficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0011339 MONDO:0015149 False hereditary spastic paraplegia 8 pure hereditary spastic paraplegia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011340 MONDO:0024623 False congenital tracheal stenosis otorhinolaryngologic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011341 MONDO:0003847 False microcephaly, facial abnormalities, micromelia, and intellectual disability hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011342 MONDO:0017749 False SLC35A1-congenital disorder of glycosylation disorder of multiple glycosylation UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011343 MONDO:0003847 False follicular atrophoderma, perioral pigmented, with milia and epidermoid cysts hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011344 MONDO:0003847 False parotitis, juvenile recurrent hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011345 MONDO:0003847 False facial dysmorphism, selective tooth agenesis, and choroid calcification hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -24837,12 +20702,19 @@ MONDO:0011354 MONDO:0010029 False situs inversus totalis with cystic dysplasia o MONDO:0011356 MONDO:0003847 False exostosis, Dupuytren subungual hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011357 MONDO:0003847 False eccrine syringofibroadenomatosis with eyelid abnormalities hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011358 MONDO:0003847 False blue nevi, familial multiple hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011361 MONDO:0020573 False prostate cancer/brain cancer susceptibility inherited disease susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011359 MONDO:0016643 False acromelic frontonasal dysostosis frontonasal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS +MONDO:0011359 MONDO:0018237 False acromelic frontonasal dysostosis acrofacial dysostosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0011361 MONDO:0015356 False prostate cancer/brain cancer susceptibility hereditary neoplastic syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011362 MONDO:0016106 False myopathy, myofibrillar, 9, with early respiratory failure progressive muscular dystrophy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011362 MONDO:0016108 False myopathy, myofibrillar, 9, with early respiratory failure autosomal dominant distal myopathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011362 MONDO:0016112 False myopathy, myofibrillar, 9, with early respiratory failure hereditary inclusion-body myopathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011362 MONDO:0100494 False myopathy, myofibrillar, 9, with early respiratory failure autosomal dominant titinopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011363 MONDO:0005148 False diabetes mellitus, noninsulin-dependent, 3 type 2 diabetes mellitus UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0011363 MONDO:0015967 False diabetes mellitus, noninsulin-dependent, 3 monogenic diabetes UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011365 MONDO:0000734 False blepharophimosis - intellectual disability syndrome, SBBYS type Ohdo syndrome and variants UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0011365 MONDO:0002254 False blepharophimosis - intellectual disability syndrome, SBBYS type syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0011365 MONDO:0003847 False blepharophimosis - intellectual disability syndrome, SBBYS type hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0011365 MONDO:0005151 False blepharophimosis - intellectual disability syndrome, SBBYS type endocrine system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0011367 MONDO:0003847 False Acrodysplasia with ossification abnormalities, short stature, and fibular hypoplasia hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011368 MONDO:0017895 False papillary thyroid Microcarcinoma familial papillary or follicular thyroid carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011370 MONDO:0019353 False Stargardt disease 4 Stargardt disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -24850,23 +20722,34 @@ MONDO:0011371 MONDO:0018024 False hydroa vacciniforme, familial hydroa vaccinifo MONDO:0011371 MONDO:0100118 False hydroa vacciniforme, familial hereditary skin disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011372 MONDO:0016660 False microcephaly with simplified gyral pattern autosomal recessive primary microcephaly UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0011373 MONDO:0015979 False urinary tract infections, recurrent, susceptibility to hereditary predisposition to infections UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011374 MONDO:0037748 False hypercholesterolemia, familial, 4 hyperlipoproteinemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011374 MONDO:0019052 False hypercholesterolemia, familial, 4 inborn errors of metabolism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0011375 MONDO:0019019 False brittle bone disorder osteogenesis imperfecta UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0011376 MONDO:0003847 False ventricular fibrillation, paroxysmal familial, type 1 hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011376 MONDO:0100234 False ventricular fibrillation, paroxysmal familial, type 1 paroxysmal familial ventricular fibrillation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011381 MONDO:0019402 False dominant beta-thalassemia beta thalassemia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0011382 MONDO:0006025 False sickle cell anemia autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0011384 MONDO:0020573 False hypertension, essential, susceptibility to, 1 inherited disease susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011385 MONDO:0000812 False intervertebral disk degenerative disorder vertebral column disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0011385 MONDO:0003847 False intervertebral disk degenerative disorder hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0011387 MONDO:0100171 False psoriasis 4, susceptibility to psoriasis, susceptibility to UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011391 MONDO:0000137 False megalencephalic leukoencephalopathy with subcortical cysts leukoencephalopathy, megalencephalic UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011391 MONDO:0019046 False megalencephalic leukoencephalopathy with subcortical cysts leukodystrophy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0011393 MONDO:0017773 False hypoalphalipoproteinemia, primary, 1 hypoalphalipoproteinemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011393 MONDO:0019052 False hypoalphalipoproteinemia, primary, 1 inborn errors of metabolism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0011395 MONDO:0800406 False cone-rod dystrophy 3 ABCA4-related retinopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011396 MONDO:0017666 False loricrin keratoderma diffuse palmoplantar keratoderma UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011397 MONDO:0003406 False autosomal dominant cerebellar ataxia, deafness and narcolepsy sleep-wake disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0011397 MONDO:0019792 False autosomal dominant cerebellar ataxia, deafness and narcolepsy autosomal dominant cerebellar ataxia type I UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011398 MONDO:0006543 False dystrophic epidermolysis bullosa pruriginosa epidermolysis bullosa dystrophica UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011400 MONDO:0016191 False dilated cardiomyopathy 1G qualitative or quantitative defects of titin UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011401 MONDO:0015140 False Alzheimer disease without neurofibrillary tangles early-onset autosomal dominant Alzheimer disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011402 MONDO:0002320 False congenital cataracts-facial dysmorphism-neuropathy syndrome congenital nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011402 MONDO:0015159 False congenital cataracts-facial dysmorphism-neuropathy syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011402 MONDO:0016949 False congenital cataracts-facial dysmorphism-neuropathy syndrome partial duplication of the short arm of chromosome 16 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011402 MONDO:0020046 False congenital cataracts-facial dysmorphism-neuropathy syndrome autosomal recessive degenerative and progressive cerebellar ataxia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011404 MONDO:0003847 False Caronte hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011405 MONDO:0015134 False poikiloderma with neutropenia constitutional neutropenia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011405 MONDO:0016382 False poikiloderma with neutropenia hereditary poikiloderma UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011405 MONDO:0100118 False poikiloderma with neutropenia hereditary skin disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011406 MONDO:0003847 False cholesteatoma, congenital hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011407 MONDO:0017627 False facial paresis, hereditary congenital, 2 congenital hereditary facial paralysis-variable hearing loss syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -24874,65 +20757,104 @@ MONDO:0011409 MONDO:0000093 False hepatic fibrosis, severe, susceptibility to, d MONDO:0011410 MONDO:0003847 False Hirschsprung disease with heart defects, laryngeal anomalies, and preaxial polydactyly hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011411 MONDO:0003847 False Chudley-McCullough syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011411 MONDO:0021147 False Chudley-McCullough syndrome disorder of development or morphogenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011412 MONDO:0020074 False familial encephalopathy with neuroserpin inclusion bodies progressive myoclonus epilepsy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS MONDO:0011412 MONDO:0100198 False familial encephalopathy with neuroserpin inclusion bodies Mendelian encephalopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011414 MONDO:0000942 False Peters anomaly corneal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0011418 MONDO:0020573 False dyslexia, susceptibility to, 3 inherited disease susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011419 MONDO:0003847 False camera-Marugo-Cohen syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011420 MONDO:0006909 False short stature due to partial GHR deficiency pituitary dwarfism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011420 MONDO:0015892 False short stature due to partial GHR deficiency growth hormone insensitivity syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011421 MONDO:0000066 False mitochondrial complex V (ATP synthase) deficiency, nuclear type 1 mitochondrial complex deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011422 MONDO:0006025 False autosomal recessive proximal renal tubular acidosis autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011422 MONDO:0008369 False autosomal recessive proximal renal tubular acidosis proximal renal tubular acidosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0011422 MONDO:0015962 False autosomal recessive proximal renal tubular acidosis inherited renal tubular disease UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011422 MONDO:0019052 False autosomal recessive proximal renal tubular acidosis inborn errors of metabolism UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011424 MONDO:0021058 False Carney triad neoplastic syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011423 MONDO:0016142 False autosomal recessive limb-girdle muscular dystrophy type 2E qualitative or quantitative defects of beta-sarcoglycan UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011423 MONDO:0016333 False autosomal recessive limb-girdle muscular dystrophy type 2E familial dilated cardiomyopathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0011424 MONDO:0015079 False Carney triad multiple polyglandular tumor UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011426 MONDO:0004884 False aceruloplasminemia eye degenerative disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0011426 MONDO:0016624 False aceruloplasminemia inherited deficiency anemia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011426 MONDO:0017763 False aceruloplasminemia disorder of iron metabolism and transport UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011426 MONDO:0018307 False aceruloplasminemia neurodegeneration with brain iron accumulation UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS +MONDO:0011426 MONDO:0019118 False aceruloplasminemia inherited retinal dystrophy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0011427 MONDO:0015979 False Ascaris lumbricoides infection, susceptibility to hereditary predisposition to infections UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011428 MONDO:0010004 False ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3 EEC syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS MONDO:0011429 MONDO:0005554 False juvenile idiopathic arthritis rheumatic disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0011429 MONDO:0700007 False juvenile idiopathic arthritis idiopathic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011430 MONDO:0011060 False pulverulent cataract early-onset non-syndromic cataract UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011431 MONDO:0016663 False MASS syndrome overlapping connective tissue disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011431 MONDO:0023603 False MASS syndrome hereditary disorder of connective tissue UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011432 MONDO:0017393 False blepharophimosis - intellectual disability syndrome, Verloes type blepharophimosis - intellectual disability syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011433 MONDO:0003847 False anemia, congenital hypoplastic, with multiple congenital anomalies/intellectual disability syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011434 MONDO:0100171 False psoriasis 5, susceptibility to psoriasis, susceptibility to UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011438 MONDO:0002406 False acne dermatitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0011436 MONDO:0001516 False autosomal recessive distal spinal muscular atrophy 1 spinal muscular atrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0011436 MONDO:0015363 False autosomal recessive distal spinal muscular atrophy 1 neuronopathy, distal hereditary motor, autosomal recessive UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS +MONDO:0011438 MONDO:0006607 False acne sebaceous gland disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0011438 MONDO:0100118 False acne hereditary skin disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011439 MONDO:0019792 False spinocerebellar ataxia type 12 autosomal dominant cerebellar ataxia type I UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011440 MONDO:0020573 False hypertension, essential, susceptibility to, 2 inherited disease susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011441 MONDO:0002254 False complex regional pain syndrome type 1 syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0011441 MONDO:0019369 False complex regional pain syndrome type 1 complex regional pain syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0011445 MONDO:0015150 False hereditary spastic paraplegia 11 complex hereditary spastic paraplegia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011446 MONDO:0003847 False myoclonic epilepsy, congenital deafness, macular dystrophy, and psychiatric disorders hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011449 MONDO:0017706 False Salla disease disorder of carbohydrate transmembrane transport and absorption UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011449 MONDO:0019366 False Salla disease free sialic acid storage disease UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011451 MONDO:0015487 False cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1 fatal infantile encephalocardiomyopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0011452 MONDO:0008686 False hypotrichosis 7 isolated familial wooly hair disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0011452 MONDO:0018914 False hypotrichosis 7 hypotrichosis simplex UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011453 MONDO:0003847 False ulnar ray dysgenesis with postaxial polydactyly and renal cystic dysplasia hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011454 MONDO:0005267 False patent ductus arteriosus-bicuspid aortic valve-hand anomalies syndrome heart disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011454 MONDO:0016432 False patent ductus arteriosus-bicuspid aortic valve-hand anomalies syndrome heart-hand syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011455 MONDO:0003847 False lissencephaly, familial, with cleft palate and cerebellar hypoplasia hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011457 MONDO:0024237 False ataxia-telangiectasia-like disorder inherited neurodegenerative disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011458 MONDO:0015993 False Leber congenital amaurosis 4 cone-rod dystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS MONDO:0011458 MONDO:0100438 False Leber congenital amaurosis 4 AIPL1-related retinopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011462 MONDO:0005046 False pyogenic arthritis-pyoderma gangrenosum-acne syndrome immune system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0011462 MONDO:0023603 False pyogenic arthritis-pyoderma gangrenosum-acne syndrome hereditary disorder of connective tissue UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011463 MONDO:0003847 False polyneuropathy, lethal neonatal, axonal sensorimotor, autosomal recessive hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011464 MONDO:0019793 False spinocerebellar ataxia type 11 autosomal dominant cerebellar ataxia type III UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011465 MONDO:0100118 False infundibulocystic basal cell carcinoma hereditary skin disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011466 MONDO:0016108 False distal myopathy, Welander type autosomal dominant distal myopathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011468 MONDO:0002316 False hereditary motor and sensory neuropathy, Okinawa type motor peripheral neuropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011468 MONDO:0020127 False hereditary motor and sensory neuropathy, Okinawa type hereditary peripheral neuropathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011469 MONDO:0000577 False congenital amegakaryocytic thrombocytopenia congenital anemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011469 MONDO:0001713 False congenital amegakaryocytic thrombocytopenia inherited aplastic anemia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0011469 MONDO:0100241 False congenital amegakaryocytic thrombocytopenia inherited thrombocytopenia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0011470 MONDO:0001336 False hyperlipidemia, combined, 2 familial hyperlipidemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011472 MONDO:0015550 False epidermolysis bullosa simplex due to plakophilin deficiency suprabasal epidermolysis bullosa simplex UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011472 MONDO:0019287 False epidermolysis bullosa simplex due to plakophilin deficiency ectodermal dysplasia syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0011473 MONDO:0100445 False Leber congenital amaurosis 5 LCA5-related retinopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011475 MONDO:0018995 False Charcot-Marie-Tooth disease type 4B2 Charcot-Marie-Tooth disease type 4 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0011476 MONDO:0015131 False MHC class I deficiency combined immunodeficiency UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0011478 MONDO:0003847 False growth and developintellectual disability, ocular ptosis, cardiac defect, and anal atresia hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011479 MONDO:0000992 False postural orthostatic tachycardia syndrome heart conduction disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0011479 MONDO:0021272 False postural orthostatic tachycardia syndrome inherited orthostatic hypotension UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0011481 MONDO:0015338 False craniosynostosis 2 syndromic craniosynostosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011482 MONDO:0016187 False dilated cardiomyopathy 1I qualitative or quantitative defects of desmin UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011483 MONDO:0003847 False polycystic bone disease hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011484 MONDO:0016342 False catecholaminergic polymorphic ventricular tachycardia 1 familial isolated arrhythmogenic right ventricular dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0011485 MONDO:0017778 False autosomal recessive congenital ichthyosis 5 lamellar ichthyosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011486 MONDO:0019950 False congenital muscular dystrophy 1B congenital muscular dystrophy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0011487 MONDO:0005395 False Huntington disease-like 3 movement disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011487 MONDO:0015548 False Huntington disease-like 3 Huntington disease-like syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011489 MONDO:0015149 False hereditary spastic paraplegia 12 pure hereditary spastic paraplegia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011490 MONDO:0005002 False diffuse panbronchiolitis chronic obstructive pulmonary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0011491 MONDO:0020573 False epilepsy, idiopathic generalized, susceptibility to, 7 inherited disease susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011492 MONDO:0003847 False mandibulofacial dysostosis syndrome, Bauru type hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011494 MONDO:0003847 False hyaluronan metabolism, defect 1N hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011496 MONDO:0016761 False mild spondyloepiphyseal dysplasia due to COL2A1 mutation with early-onset osteoarthritis spondyloepiphyseal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011496 MONDO:0022800 False mild spondyloepiphyseal dysplasia due to COL2A1 mutation with early-onset osteoarthritis type 2 collagenopathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011497 MONDO:0015762 False hereditary North American Indian childhood cirrhosis progressive familial intrahepatic cholestasis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0011498 MONDO:0100182 False schizophrenia 9 schizophrenia, susceptibility to UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011500 MONDO:0005073 False Becker nevus syndrome melanocytic nevus UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011500 MONDO:0019755 False Becker nevus syndrome developmental defect during embryogenesis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011500 MONDO:0100118 False Becker nevus syndrome hereditary skin disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011501 MONDO:0002081 False wormian bone-multiple fractures-dentinogenesis imperfecta-skeletal dysplasia musculoskeletal system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011501 MONDO:0003847 False wormian bone-multiple fractures-dentinogenesis imperfecta-skeletal dysplasia hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011502 MONDO:0003847 False Wolfram syndrome 2 hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0011502 MONDO:0018105 False Wolfram syndrome 2 Wolfram syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0011504 MONDO:0015660 False NDE1-related microhydranencephaly sporadic fetal brain disruption sequence UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011504 MONDO:0700116 False NDE1-related microhydranencephaly microcephaly with lissencephaly and/or hydranencephaly UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011505 MONDO:0017774 False familial hypobetalipoproteinemia 2 hypobetalipoproteinemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0011506 MONDO:0016022 False familial infantile myoclonic epilepsy early myoclonic encephalopathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011507 MONDO:0003847 False diabetes mellitus, congenital autoimmune hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011508 MONDO:0018908 False lymphoma, non-Hodgkin, familial non-Hodgkin lymphoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -24940,46 +20862,80 @@ MONDO:0011509 MONDO:0003847 False low density lipoprotein cholesterol, mild elev MONDO:0011510 MONDO:0000508 False Bohring-Opitz syndrome syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011510 MONDO:0002320 False Bohring-Opitz syndrome congenital nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011510 MONDO:0003847 False Bohring-Opitz syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011510 MONDO:0015159 False Bohring-Opitz syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011511 MONDO:0003847 False clavicular hypoplasia, zygomatic arch hypoplasia, and micrognathia hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011512 MONDO:0000426 False Brooke-Spiegler syndrome autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0011512 MONDO:0015356 False Brooke-Spiegler syndrome hereditary neoplastic syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011513 MONDO:0015140 False Alzheimer disease, familial early-onset, with coexisting amyloid and prion pathology early-onset autosomal dominant Alzheimer disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011514 MONDO:0003847 False tricuspid atresia hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0011514 MONDO:0005453 False tricuspid atresia congenital heart disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0011514 MONDO:0020289 False tricuspid atresia congenital tricuspid malformation UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011516 MONDO:0003847 False early response to neural induction gene hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011517 MONDO:0003847 False pseudohyperaldosteronism type 2 hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011517 MONDO:0024575 False pseudohyperaldosteronism type 2 pregnancy disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011518 MONDO:0003847 False Wiedemann-Steiner syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011518 MONDO:0015159 False Wiedemann-Steiner syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011520 MONDO:0020573 False systemic lupus erythematosus, susceptibility to, 2 inherited disease susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011524 MONDO:0016537 False Dianzani autoimmune lymphoproliferative disease lymphoproliferative syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0011525 MONDO:0015285 False Carney complex type 2 Carney complex UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011527 MONDO:0018995 False Charcot-Marie-Tooth disease type 4E Charcot-Marie-Tooth disease type 4 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0011528 MONDO:0006025 False hyper-IgM syndrome type 2 autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0011529 MONDO:0019792 False spinocerebellar ataxia type 13 autosomal dominant cerebellar ataxia type I UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011530 MONDO:0018230 False mesomelic dysplasia, Savarirayan type skeletal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011530 MONDO:0023599 False mesomelic dysplasia, Savarirayan type mesomelic dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011533 MONDO:0002254 False temtamy preaxial brachydactyly syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0011533 MONDO:0005172 False temtamy preaxial brachydactyly syndrome skeletal system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011533 MONDO:0006025 False temtamy preaxial brachydactyly syndrome autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0011533 MONDO:0015286 False temtamy preaxial brachydactyly syndrome congenital disorder of glycosylation UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0011533 MONDO:0015327 False temtamy preaxial brachydactyly syndrome developmental anomaly of metabolic origin UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011533 MONDO:0019054 False temtamy preaxial brachydactyly syndrome congenital limb malformation UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011534 MONDO:0002316 False Charcot-Marie-Tooth disease type 4G motor peripheral neuropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0011534 MONDO:0017688 False Charcot-Marie-Tooth disease type 4G disorder of glycolysis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011534 MONDO:0018995 False Charcot-Marie-Tooth disease type 4G Charcot-Marie-Tooth disease type 4 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0011537 MONDO:0000426 False macrocephaly-autism syndrome autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0011537 MONDO:0021147 False macrocephaly-autism syndrome disorder of development or morphogenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011538 MONDO:0003847 False frontoocular syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011540 MONDO:0019792 False spinocerebellar ataxia type 14 autosomal dominant cerebellar ataxia type I UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011542 MONDO:0100171 False psoriasis 6, susceptibility to psoriasis, susceptibility to UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011544 MONDO:0017366 False paragangliomas 3 hereditary pheochromocytoma-paraganglioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011544 MONDO:0021227 False paragangliomas 3 adrenal gland neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011545 MONDO:0020300 False autosomal dominant nocturnal frontal lobe epilepsy 3 autosomal dominant nocturnal frontal lobe epilepsy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0011546 MONDO:0000153 False heterotaxy, visceral, 2, autosomal transposition of the great arteries UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011547 MONDO:0011060 False cataract 31 multiple types early-onset non-syndromic cataract UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0011548 MONDO:0000397 False cerebral palsy, ataxic, autosomal recessive ataxic cerebral palsy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011549 MONDO:0018914 False hypotrichosis 1 hypotrichosis simplex UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011550 MONDO:0003847 False fibromatosis, gingival, with hypertrichosis and intellectual disability hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011551 MONDO:0006025 False TH-deficient dopa-responsive dystonia autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011551 MONDO:0016812 False TH-deficient dopa-responsive dystonia dopa-responsive dystonia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011551 MONDO:0017307 False TH-deficient dopa-responsive dystonia disorder of tyrosine metabolism UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011551 MONDO:0100064 False TH-deficient dopa-responsive dystonia tyrosine hydroxylase deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011552 MONDO:0005090 False schizophrenia 10 schizophrenia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS MONDO:0011555 MONDO:0009332 False radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome congenital hematological disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011555 MONDO:0018234 False radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome dysostosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011555 MONDO:0018795 False radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome syndromic constitutional thrombocytopenia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011555 MONDO:0019054 False radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome congenital limb malformation UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011556 MONDO:0100047 False basal cell carcinoma, susceptibility to, 1 basal cell carcinoma, susceptibility to UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011557 MONDO:0024237 False radiation sensitivity/chromosome instability syndrome, autosomal dominant inherited neurodegenerative disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011560 MONDO:0020573 False systemic lupus erythematosus, susceptibility to, 3 inherited disease susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011561 MONDO:0015140 False Alzheimer disease 6 early-onset autosomal dominant Alzheimer disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011562 MONDO:0008199 False autosomal dominant Parkinson disease 4 late-onset Parkinson disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS +MONDO:0011569 MONDO:0018993 False Charcot-Marie-Tooth disease type 2B1 Charcot-Marie-Tooth disease type 2 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0011569 MONDO:0021106 False Charcot-Marie-Tooth disease type 2B1 laminopathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011570 MONDO:0018993 False Charcot-Marie-Tooth disease type 2B2 Charcot-Marie-Tooth disease type 2 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0011571 MONDO:0007441 False deafness, autosomal dominant 39, with dentinogenesis imperfecta 1 dentinogenesis imperfecta type 2 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0011572 MONDO:0010255 False type 1 diabetes mellitus 18 diabetes mellitus, insulin-dependent, X-linked, susceptibility to UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0011573 MONDO:0100171 False psoriasis 7, susceptibility to psoriasis, susceptibility to UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011574 MONDO:0003847 False tetralogy of fallot syndrome, autosomal recessive hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011575 MONDO:0015159 False cerebrooculonasal syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011576 MONDO:0036591 False familial hyperaldosteronism type II adrenal cortex neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011577 MONDO:0007827 False myopathy, proximal, and ophthalmoplegia inclusion body myositis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS +MONDO:0011577 MONDO:0019952 False myopathy, proximal, and ophthalmoplegia congenital myopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS +MONDO:0011578 MONDO:0017896 False familial papillary thyroid carcinoma with renal papillary neoplasia familial nonmedullary thyroid carcinoma UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0011579 MONDO:0019118 False late-onset retinal degeneration inherited retinal dystrophy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0011580 MONDO:0008935 False cerebellar ataxia and hypergonadotropic hypogonadism cerebellar ataxia-hypogonadism syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0011581 MONDO:0019287 False arrhythmogenic cardiomyopathy with wooly hair and keratoderma ectodermal dysplasia syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS MONDO:0011581 MONDO:0100080 False arrhythmogenic cardiomyopathy with wooly hair and keratoderma cardioectodermal syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011585 MONDO:0001516 False autosomal recessive distal spinal muscular atrophy 2 spinal muscular atrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0011585 MONDO:0015363 False autosomal recessive distal spinal muscular atrophy 2 neuronopathy, distal hereditary motor, autosomal recessive UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS MONDO:0011587 MONDO:0020372 False cataract 25 early-onset sutural cataract UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011588 MONDO:0021181 False platelet-type bleeding disorder 12 inherited blood coagulation disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011590 MONDO:0003847 False anisomastia hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -24988,9 +20944,14 @@ MONDO:0011594 MONDO:0003847 False ovarian dysgenesis, hypergonadotropic, with sh MONDO:0011596 MONDO:0100178 False dermatitis, atopic, 2 dermatitis, atopic, susceptibility to UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011597 MONDO:0100178 False dermatitis, atopic, 3 dermatitis, atopic, susceptibility to UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011598 MONDO:0100178 False dermatitis, atopic, 4 dermatitis, atopic, susceptibility to UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011599 MONDO:0006918 False birdshot chorioretinopathy posterior uveitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0011600 MONDO:0020344 False congenital myasthenic syndrome 4A postsynaptic congenital myasthenic syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011601 MONDO:0016602 False neonatal intrahepatic cholestasis due to citrin deficiency citrin deficiency UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011603 MONDO:0007827 False GNE myopathy inclusion body myositis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS MONDO:0011603 MONDO:0009332 False GNE myopathy congenital hematological disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011603 MONDO:0016112 False GNE myopathy hereditary inclusion-body myopathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011603 MONDO:0017749 False GNE myopathy disorder of multiple glycosylation UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011603 MONDO:0018795 False GNE myopathy syndromic constitutional thrombocytopenia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011604 MONDO:0020247 False spondylo-ocular syndrome congenital vitreoretinal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011604 MONDO:0800064 False spondylo-ocular syndrome osteogenesis imperfecta and a reduction of bone mineral density. UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011605 MONDO:0100118 False generalized basaloid follicular hamartoma syndrome hereditary skin disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -25000,41 +20961,66 @@ MONDO:0011608 MONDO:0100178 False dermatitis, atopic, 5 dermatitis, atopic, susc MONDO:0011609 MONDO:0100178 False dermatitis, atopic, 6 dermatitis, atopic, susceptibility to UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011610 MONDO:0100477 False dimethylglycine dehydrogenase deficiency disorder of methylamine metabolism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011611 MONDO:0003847 False short stature, intellectual disability, callosal agenesis, Heminasal hypoplasia, microphthalmia, and atypical clefting hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011612 MONDO:0005560 False glycine encephalopathy brain disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0011612 MONDO:0004736 False glycine encephalopathy inborn disorder of amino acid metabolism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0011612 MONDO:0019239 False glycine encephalopathy inborn disorder of serine family metabolism UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011613 MONDO:0017279 False autosomal recessive early-onset Parkinson disease 6 young-onset Parkinson disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0011614 MONDO:0017713 False 3-hydroxy-3-methylglutaryl-CoA synthase deficiency disorder of fatty acid oxidation and ketogenesis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011615 MONDO:0002242 False East Texas bleeding disorder coagulation protein disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011615 MONDO:0002243 False East Texas bleeding disorder hemorrhagic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011617 MONDO:0003847 False arthropathy, erosive hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011618 MONDO:0003847 False liver fibrocystic disease and polydactyly hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011619 MONDO:0003847 False crumpled helices and small mouth hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011620 MONDO:0018230 False metaphyseal dysplasia, Braun-Tinschert type skeletal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011621 MONDO:0019054 False acropectoral syndrome congenital limb malformation UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011621 MONDO:0800066 False acropectoral syndrome polydactyly-syndactyly-triphalangism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011622 MONDO:0020573 False nephrolithiasis, uric acid, susceptibility to inherited disease susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011624 MONDO:0019231 False transaldolase deficiency inborn disorder of pentose phosphate metabolism UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011626 MONDO:0003847 False acromegaloid features, overgrowth, cleft palate, and hernia hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011628 MONDO:0019215 False propionic acidemia classic organic aciduria UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011629 MONDO:0017740 False MOGS-congenital disorder of glycosylation disorder of protein N-glycosylation UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011633 MONDO:0002316 False Charcot-Marie-Tooth disease axonal type 2C motor peripheral neuropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0011633 MONDO:0018993 False Charcot-Marie-Tooth disease axonal type 2C Charcot-Marie-Tooth disease type 2 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0011634 MONDO:0005336 False rippling muscle disease myopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011636 MONDO:0002254 False Diamond-Blackfan anemia 2 syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0011637 MONDO:0003847 False Sener syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011638 MONDO:0015548 False neuroferritinopathy Huntington disease-like syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011638 MONDO:0017763 False neuroferritinopathy disorder of iron metabolism and transport UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011640 MONDO:0002254 False genitopatellar syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011640 MONDO:0015159 False genitopatellar syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011640 MONDO:0018230 False genitopatellar syndrome skeletal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011640 MONDO:0018234 False genitopatellar syndrome dysostosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011641 MONDO:0003847 False baculum, congenital absence of hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011642 MONDO:0003847 False carnitine acetyltransferase deficiency hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011644 MONDO:0002970 False pars planitis ciliary body disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0011644 MONDO:0004674 False pars planitis chorioretinitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0011644 MONDO:0006806 False pars planitis intermediate uveitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0011646 MONDO:0003847 False laryngeal abductor paralysis with cerebellar ataxia and motor neuropathy hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011647 MONDO:0015140 False Alzheimer disease 7 early-onset autosomal dominant Alzheimer disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011648 MONDO:0016642 False radiation-induced meningioma meningioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011650 MONDO:0020573 False atrioventricular septal defect, susceptibility to, 2 inherited disease susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011651 MONDO:0003847 False intellectual disability, short stature, facial anomalies, and joint dislocations hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011652 MONDO:0003847 False Phelan-McDermid syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0011652 MONDO:0022760 False Phelan-McDermid syndrome chromosome 22q deletion UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011653 MONDO:0017895 False thyroid cancer, nonmedullary, 3 familial papillary or follicular thyroid carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011654 MONDO:0003847 False intellectual disability, microcephaly, growth retardation, joint contractures, and facial dysmorphism hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011655 MONDO:0003847 False alveolar soft part sarcoma hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0011658 MONDO:0017279 False autosomal recessive early-onset Parkinson disease 7 young-onset Parkinson disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0011662 MONDO:0003847 False pathological gambling hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0011663 MONDO:0018155 False juvenile primary lateral sclerosis lateral sclerosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011663 MONDO:0100227 False juvenile primary lateral sclerosis ALS2-related motor neuron disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011669 MONDO:0002254 False hypotonia-cystinuria syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0011669 MONDO:0004069 False hypotonia-cystinuria syndrome inborn mitochondrial metabolism disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0011669 MONDO:0016884 False hypotonia-cystinuria syndrome partial deletion of the short arm of chromosome 2 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011669 MONDO:0019216 False hypotonia-cystinuria syndrome inborn disorder of amino acid transport UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011671 MONDO:0016987 False Huntington disease-like 2 neuroacanthocytosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0011672 MONDO:0003847 False persistent polyclonal B-cell lymphocytosis hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011672 MONDO:0015757 False persistent polyclonal B-cell lymphocytosis lymphoid hemopathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011674 MONDO:0019548 False Charcot-Marie-Tooth disease dominant intermediate B autosomal dominant intermediate Charcot-Marie-Tooth disease UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011675 MONDO:0019548 False Charcot-Marie-Tooth Disease, axonal, type 2GG autosomal dominant intermediate Charcot-Marie-Tooth disease UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011676 MONDO:0002320 False PHACE syndrome congenital nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011676 MONDO:0005267 False PHACE syndrome heart disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011676 MONDO:0015160 False PHACE syndrome multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011676 MONDO:0020022 False PHACE syndrome central nervous system malformation UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011677 MONDO:0003847 False Megarbane syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011678 MONDO:0016893 False homozygous 11P15-p14 deletion syndrome partial deletion of the short arm of chromosome 11 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011679 MONDO:0006025 False craniosynostosis syndrome, autosomal recessive autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -25044,140 +21030,241 @@ MONDO:0011680 MONDO:0017778 False autosomal recessive congenital ichthyosis 3 la MONDO:0011680 MONDO:0019306 False autosomal recessive congenital ichthyosis 3 congenital non-bullous ichthyosiform erythroderma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011684 MONDO:0020573 False vitiligo-associated multiple autoimmune disease susceptibility 1 inherited disease susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011685 MONDO:0020573 False polysubstance abuse, susceptibility to inherited disease susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011686 MONDO:0002254 False DNA ligase IV deficiency syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0011686 MONDO:0017855 False DNA ligase IV deficiency T-B- severe combined immunodeficiency UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011686 MONDO:0021147 False DNA ligase IV deficiency disorder of development or morphogenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011687 MONDO:0018993 False Charcot-Marie-Tooth disease axonal type 2F Charcot-Marie-Tooth disease type 2 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0011688 MONDO:0700066 False muscular dystrophy-dystroglycanopathy type B5 myopathy caused by variation in FKRP UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011689 MONDO:0020573 False dyslexia, susceptibility to, 6 inherited disease susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011690 MONDO:0002254 False Camurati-Engelmann disease, type 2 syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011693 MONDO:0020573 False glaucoma, normal tension, susceptibility to inherited disease susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011694 MONDO:0019792 False spinocerebellar ataxia type 15/16 autosomal dominant cerebellar ataxia type I UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011695 MONDO:0007966 False melanoma, uveal, susceptibility to, 1 susceptibility to uveal melanoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011696 MONDO:0007966 False melanoma, uveal, susceptibility to, 2 susceptibility to uveal melanoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011697 MONDO:0019517 False Waardenburg syndrome type 2C Waardenburg syndrome type 2 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011698 MONDO:0000351 False glycine N-methyltransferase deficiency disorder of methionine catabolism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0011702 MONDO:0016144 False dilated cardiomyopathy 1L qualitative or quantitative defects of delta-sarcoglycan UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011703 MONDO:0005429 False spongiform encephalopathy with neuropsychiatric features prion disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011703 MONDO:0100198 False spongiform encephalopathy with neuropsychiatric features Mendelian encephalopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011706 MONDO:0000828 False Kufor-Rakeb syndrome juvenile-onset Parkinson disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0011706 MONDO:0018307 False Kufor-Rakeb syndrome neurodegeneration with brain iron accumulation UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS MONDO:0011710 MONDO:0000724 False specific language impairment 1 specific language impairment UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0011712 MONDO:0003847 False van der Woude syndrome 2 hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011712 MONDO:0019508 False van der Woude syndrome 2 van der Woude syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011713 MONDO:0018453 False melanoma-pancreatic cancer syndrome familial atypical multiple mole melanoma syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011714 MONDO:0003847 False partial lipodystrophy, congenital cataracts, and neurodegeneration syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011715 MONDO:0800063 False Seckel syndrome 2 primordial dwarfism and slender bone disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011716 MONDO:0003337 False acute hemorrhagic leukoencephalitis acute hemorrhagic encephalitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0011716 MONDO:0019383 False acute hemorrhagic leukoencephalitis acute disseminated encephalomyelitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0011717 MONDO:0015624 False hyperinsulinism-hyperammonemia syndrome diazoxide-sensitive diffuse hyperinsulinism UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011717 MONDO:0800153 False hyperinsulinism-hyperammonemia syndrome urea cycle disorder or inherited hyperammonemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011719 MONDO:0003847 False gastrointestinal stromal tumor hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0011719 MONDO:0018506 False gastrointestinal stromal tumor mesenchymal tumor of small intestine UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011721 MONDO:0016145 False distal myopathy with anterior tibial onset qualitative or quantitative defects of dysferlin UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011722 MONDO:0015159 False intellectual disability-obesity-prognathism-eye and skin anomalies syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011723 MONDO:0019716 False hemifacial myohyperplasia overgrowth syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011725 MONDO:0009044 False Crigler-Najjar syndrome type 2 Crigler-Najjar syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011726 MONDO:0003847 False peripheral arterial occlusive disease 1 hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011727 MONDO:0020573 False anorexia nervosa, susceptibility to, 1 inherited disease susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011728 MONDO:0044807 False blepharospasm inherited dystonia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011728 MONDO:0000477 False benign essential blepharospasm focal dystonia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0011729 MONDO:0020573 False stroke, susceptibility to, 1 inherited disease susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011730 MONDO:0004069 False fumaric aciduria inborn mitochondrial metabolism disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0011730 MONDO:0016790 False fumaric aciduria tricarboxylic acid cycle disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011730 MONDO:0020127 False fumaric aciduria hereditary peripheral neuropathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011731 MONDO:0005020 False glucose-galactose malabsorption intestinal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011731 MONDO:0019226 False glucose-galactose malabsorption glucose transport disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011732 MONDO:0018240 False familial digital arthropathy-brachydactyly TRPV4-related bone disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011732 MONDO:0019054 False familial digital arthropathy-brachydactyly congenital limb malformation UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011733 MONDO:0003847 False parasomnia, sleep bruxism type hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011734 MONDO:0003847 False Cardioneuromyopathy with hyaline masses and nemaline rods hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011736 MONDO:0003847 False Cree intellectual disability syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011737 MONDO:0017279 False parkinson disease 10 young-onset Parkinson disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011739 MONDO:0020573 False pancreatic cancer, susceptibility to, 1 inherited disease susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011740 MONDO:0015356 False Carney-Stratakis syndrome hereditary neoplastic syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011738 MONDO:0003847 False bilateral frontoparietal polymicrogyria hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0011738 MONDO:0017091 False bilateral frontoparietal polymicrogyria bilateral polymicrogyria UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011739 MONDO:0015356 False pancreatic cancer, susceptibility to, 1 hereditary neoplastic syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011740 MONDO:0015079 False Carney-Stratakis syndrome multiple polyglandular tumor UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011741 MONDO:0100179 False Hirschsprung disease, susceptibility to, 6 Hirschsprung disease, susceptibility to UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011742 MONDO:0100179 False Hirschsprung disease, susceptibility to, 7 Hirschsprung disease, susceptibility to UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011743 MONDO:0015140 False Alzheimer disease 4 early-onset autosomal dominant Alzheimer disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011744 MONDO:0003847 False primary intraosseous venous malformation hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011744 MONDO:0016223 False primary intraosseous venous malformation infantile hemangioma of rare localization UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011745 MONDO:0003847 False duodenojejunal atresia with volvulus, absent dorsal mesentery, and absent superior mesenteric artery hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011746 MONDO:0003847 False symphalangism, distal, with microdontia, dental pulp stones, and narrowed zygomatic arch hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011747 MONDO:0020573 False dyslexia, susceptibility to, 5 inherited disease susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011748 MONDO:0010168 False Usher syndrome type 1G Usher syndrome type 1 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0011749 MONDO:0008745 False oculocutaneous albinism type 1B oculocutaneous albinism type 1A UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS MONDO:0011753 MONDO:0020573 False epilepsy, idiopathic generalized, susceptibility to, 2 inherited disease susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011754 MONDO:0018541 False familial hyperreninemic hypoaldosteronism type 2 familial hypoaldosteronism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011758 MONDO:0002254 False Hurler syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0011759 MONDO:0002254 False Hurler-Scheie syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0011760 MONDO:0002254 False Scheie syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0011757 MONDO:0021004 False brachydactyly type A1B brachydactyly UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0011758 MONDO:0016340 False Hurler syndrome familial restrictive cardiomyopathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0011758 MONDO:0800088 False Hurler syndrome lysosomal storage disease with skeletal involvement UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011759 MONDO:0800088 False Hurler-Scheie syndrome lysosomal storage disease with skeletal involvement UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011760 MONDO:0800088 False Scheie syndrome lysosomal storage disease with skeletal involvement UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011764 MONDO:0008199 False autosomal dominant Parkinson disease 8 late-onset Parkinson disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS MONDO:0011766 MONDO:0010765 False 46,XY gonadal dysgenesis-motor and sensory neuropathy syndrome 46,XY complete gonadal dysgenesis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0011766 MONDO:0020040 False 46,XY gonadal dysgenesis-motor and sensory neuropathy syndrome 46,XY disorder of sex development UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011768 MONDO:0009688 False myasthenia gravis with thymus hyperplasia myasthenia gravis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0011771 MONDO:0001516 False neuronopathy, distal hereditary motor, autosomal recessive 3 spinal muscular atrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0011771 MONDO:0015363 False neuronopathy, distal hereditary motor, autosomal recessive 3 neuronopathy, distal hereditary motor, autosomal recessive UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS MONDO:0011772 MONDO:0002320 False B4GALT1-congenital disorder of glycosylation congenital nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0011772 MONDO:0015327 False B4GALT1-congenital disorder of glycosylation developmental anomaly of metabolic origin UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011772 MONDO:0017749 False B4GALT1-congenital disorder of glycosylation disorder of multiple glycosylation UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011772 MONDO:0020022 False B4GALT1-congenital disorder of glycosylation central nervous system malformation UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011773 MONDO:0016761 False anauxetic dysplasia spondyloepiphyseal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0011775 MONDO:0020573 False nasopharyngeal carcinoma, susceptibility to, 1 inherited disease susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011775 MONDO:0015356 False nasopharyngeal carcinoma, susceptibility to, 1 hereditary neoplastic syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011776 MONDO:0002081 False CINCA syndrome musculoskeletal system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0011776 MONDO:0016168 False CINCA syndrome cryopyrin-associated periodic syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011777 MONDO:0015140 False Alzheimer disease 8 early-onset autosomal dominant Alzheimer disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011778 MONDO:0016648 False multiple epiphyseal dysplasia, Al-Gazali type multiple epiphyseal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0011778 MONDO:0800463 False multiple epiphyseal dysplasia, Al-Gazali type KIF7-related ciliopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011779 MONDO:0003847 False laryngeal atresia, encephalocele, and limb deformities hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011781 MONDO:0000114 False spinocerebellar ataxia type 17 cerebelloparenchymal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011781 MONDO:0015548 False spinocerebellar ataxia type 17 Huntington disease-like syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011781 MONDO:0019792 False spinocerebellar ataxia type 17 autosomal dominant cerebellar ataxia type I UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011782 MONDO:0003847 False angioid streaks hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0011782 MONDO:0005283 False angioid streaks retinal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0011783 MONDO:0017740 False ALG12-congenital disorder of glycosylation disorder of protein N-glycosylation UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011785 MONDO:0015149 False hereditary spastic paraplegia 19 pure hereditary spastic paraplegia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011786 MONDO:0000771 False allergic rhinitis allergic respiratory disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0011787 MONDO:0016156 False autosomal recessive limb-girdle muscular dystrophy type 2I qualitative or quantitative defects of FKRP UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011787 MONDO:0700066 False autosomal recessive limb-girdle muscular dystrophy type 2I myopathy caused by variation in FKRP UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011788 MONDO:0015338 False cloverleaf skull-multiple congenital anomalies syndrome syndromic craniosynostosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011789 MONDO:0003847 False familial meningioma hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0011789 MONDO:0020573 False familial meningioma inherited disease susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011790 MONDO:0001149 False Amish lethal microcephaly microcephaly UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011790 MONDO:0100500 False Amish lethal microcephaly Mendelian neurodevelopmental disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011792 MONDO:0010132 False thyroid dyshormonogenesis 6 familial thyroid dyshormonogenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0011792 MONDO:0045046 False thyroid dyshormonogenesis 6 inherited thyroid metabolism disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011793 MONDO:0020573 False celiac disease, susceptibility to, 5 inherited disease susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011795 MONDO:0015161 False anonychia-microcephaly syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011796 MONDO:0003847 False epilepsy, partial, with pericentral spikes hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011797 MONDO:0100227 False infantile-onset ascending hereditary spastic paralysis ALS2-related motor neuron disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011798 MONDO:0003847 False hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011801 MONDO:0020127 False spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1 hereditary peripheral neuropathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011802 MONDO:0002118 False hypercalciuria, absorptive, 1 urinary system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011803 MONDO:0016387 False hereditary spastic paraplegia 7 mitochondrial oxidative phosphorylation disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011803 MONDO:0100309 False hereditary spastic paraplegia 7 hereditary ataxia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0011804 MONDO:0017979 False autoimmune lymphoproliferative syndrome type 2B autoimmune lymphoproliferative syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0011805 MONDO:0010940 False asthma-related traits, susceptibility to, 1 inherited susceptibility to asthma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0011806 MONDO:0018230 False osteofibrous dysplasia skeletal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011807 MONDO:0020573 False systemic lupus erythematosus with hemolytic anemia, susceptibility to, 1 inherited disease susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011808 MONDO:0020376 False cataract 27 early-onset nuclear cataract UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011810 MONDO:0003847 False horizontal gaze palsy with progressive scoliosis hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011810 MONDO:0021147 False horizontal gaze palsy with progressive scoliosis disorder of development or morphogenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011811 MONDO:0020047 False autosomal recessive cerebellar ataxia-saccadic intrusion syndrome autosomal recessive syndromic cerebellar ataxia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011812 MONDO:0000426 False Duane-radial ray syndrome autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0011812 MONDO:0002254 False Duane-radial ray syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0011812 MONDO:0018234 False Duane-radial ray syndrome dysostosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0011812 MONDO:0019054 False Duane-radial ray syndrome congenital limb malformation UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011812 MONDO:0019713 False Duane-radial ray syndrome non-syndromic limb reduction defect UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011813 MONDO:0019673 False polydactyly, postaxial, type A3 postaxial polydactyly type A UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011815 MONDO:0020573 False hypertension, essential, susceptibility to, 3 inherited disease susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011816 MONDO:0045017 False lathosterolosis cholesterol biosynthetic process disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011817 MONDO:0020573 False coronary heart disease, susceptibility to, 1 inherited disease susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011818 MONDO:0019009 False isolated focal cortical dysplasia type II isolated focal cortical dysplasia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011819 MONDO:0019792 False spinocerebellar ataxia type 19/22 autosomal dominant cerebellar ataxia type I UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011820 MONDO:0020573 False scoliosis, isolated, susceptibility to, 2 inherited disease susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011821 MONDO:0800066 False Meckel syndrome, type 3 polydactyly-syndactyly-triphalangism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011823 MONDO:0002320 False developmental malformations-deafness-dystonia syndrome congenital nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011823 MONDO:0015161 False developmental malformations-deafness-dystonia syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011823 MONDO:0044807 False developmental malformations-deafness-dystonia syndrome inherited dystonia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0011825 MONDO:0003847 False streptococcus, group A, severity of infection by hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011827 MONDO:0003847 False patent ductus arteriosus hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0011827 MONDO:0005385 False patent ductus arteriosus vascular disorder UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0011827 MONDO:0005453 False patent ductus arteriosus congenital heart disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0011830 MONDO:0015146 False lissencephaly due to LIS1 mutation classic lissencephaly UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011833 MONDO:0019792 False spinocerebellar ataxia type 21 autosomal dominant cerebellar ataxia type I UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011834 MONDO:0019792 False spinocerebellar ataxia type 18 autosomal dominant cerebellar ataxia type I UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011835 MONDO:0002320 False sensory ataxic neuropathy, dysarthria, and ophthalmoparesis congenital nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0011835 MONDO:0009637 False sensory ataxic neuropathy, dysarthria, and ophthalmoparesis inborn mitochondrial myopathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0011835 MONDO:0015653 False sensory ataxic neuropathy, dysarthria, and ophthalmoparesis monogenic epilepsy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011835 MONDO:0016798 False sensory ataxic neuropathy, dysarthria, and ophthalmoparesis ataxia neuropathy spectrum UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011835 MONDO:0020127 False sensory ataxic neuropathy, dysarthria, and ophthalmoparesis hereditary peripheral neuropathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011835 MONDO:0100033 False sensory ataxic neuropathy, dysarthria, and ophthalmoparesis metabolic epilepsy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011836 MONDO:0003847 False thyroid Hurthle cell carcinoma hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0011836 MONDO:0005034 False thyroid Hurthle cell carcinoma thyroid gland follicular carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0011838 MONDO:0100444 False Bothnia retinal dystrophy RLBP1-related retinopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011839 MONDO:0015993 False Newfoundland cone-rod dystrophy cone-rod dystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS MONDO:0011839 MONDO:0100444 False Newfoundland cone-rod dystrophy RLBP1-related retinopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011841 MONDO:0003996 False biotin-responsive basal ganglia disease basal ganglia disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0011841 MONDO:0005527 False biotin-responsive basal ganglia disease toxic encephalopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0011842 MONDO:0017276 False GRN-related frontotemporal lobar degeneration with Tdp43 inclusions frontotemporal dementia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0011842 MONDO:0019806 False GRN-related frontotemporal lobar degeneration with Tdp43 inclusions primary progressive aphasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011843 MONDO:0016192 False hypertrophic cardiomyopathy 25 qualitative or quantitative defects of telethonin UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011843 MONDO:0016333 False hypertrophic cardiomyopathy 25 familial dilated cardiomyopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0011844 MONDO:0000903 False myoclonic dystonia 15 myoclonus-dystonia syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0011846 MONDO:0020573 False bulimia nervosa, susceptibility to, 1 inherited disease susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011848 MONDO:0003847 False headache associated with sexual activity hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011849 MONDO:0002254 False psoriatic arthritis syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0011849 MONDO:0008383 False psoriatic arthritis rheumatoid arthritis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0011853 MONDO:0003847 False Camptosynpolydactyly, complex hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011854 MONDO:0003847 False secretory diarrhea, myopathy, and deafness hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011855 MONDO:0000764 False granular corneal dystrophy type II epithelial-stromal TGFBI dystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0011855 MONDO:0020213 False granular corneal dystrophy type II stromal corneal dystrophy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0011856 MONDO:0016763 False spondylometaphyseal dysplasia-bowed forearms-facial dysmorphism syndrome spondylometaphyseal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS MONDO:0011858 MONDO:0003847 False spastic paraplegia, ataxia, and intellectual disability hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011860 MONDO:0020573 False leprosy, susceptibility to, 2 inherited disease susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011861 MONDO:0003847 False breath-holding Spells hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011862 MONDO:0015150 False hereditary spastic paraplegia 24 complex hereditary spastic paraplegia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011863 MONDO:0003847 False prostate cancer aggressiveness quantitative trait locus on chromosome 19 hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011866 MONDO:0016396 False pontocerebellar hypoplasia type 1A pontocerebellar hypoplasia type 1 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0011867 MONDO:0003847 False microphthalmia with cyst, bilateral facial clefts, and limb anomalies hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011868 MONDO:0015161 False lethal congenital contracture syndrome 2 multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011869 MONDO:0015550 False epidermolysis bullosa simplex superficialis suprabasal epidermolysis bullosa simplex UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011870 MONDO:0020702 False annular epidermolytic ichthyosis autosomal dominant epidermolytic ichthyosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011871 MONDO:0006025 False Niemann-Pick disease type B autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0011871 MONDO:0017014 False Niemann-Pick disease type B interstitial lung disease specific to childhood UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011871 MONDO:0020127 False Niemann-Pick disease type B hereditary peripheral neuropathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011871 MONDO:0100464 False Niemann-Pick disease type B acid sphingomyelinase deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011872 MONDO:0015134 False Griscelli syndrome type 2 constitutional neutropenia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011872 MONDO:0015541 False Griscelli syndrome type 2 hereditary hemophagocytic lymphohistiocytosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0011873 MONDO:0018982 False Niemann-Pick disease, type C2 Niemann-Pick disease type C UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011874 MONDO:0002254 False neonatal ichthyosis-sclerosing cholangitis syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011874 MONDO:0015947 False neonatal ichthyosis-sclerosing cholangitis syndrome inherited ichthyosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011874 MONDO:0018646 False neonatal ichthyosis-sclerosing cholangitis syndrome sclerosing cholangitis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011875 MONDO:0020573 False epilepsy, idiopathic generalized, susceptibility to, 11 inherited disease susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011876 MONDO:0015653 False juvenile absence epilepsy monogenic epilepsy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011876 MONDO:0020573 False juvenile absence epilepsy inherited disease susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011876 MONDO:0100030 False juvenile absence epilepsy adolescent/adult-onset epilepsy syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011879 MONDO:0015355 False neuronopathy, distal hereditary motor, type 7B distal hereditary motor neuropathy type 7 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0011881 MONDO:0018865 False keratosis palmoplantaris striata 3 striate palmoplantar keratoderma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0011882 MONDO:0002254 False skin fragility-woolly hair-palmoplantar keratoderma syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011882 MONDO:0006025 False skin fragility-woolly hair-palmoplantar keratoderma syndrome autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011885 MONDO:0002254 False tubulointerstitial nephritis and uveitis syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011882 MONDO:0017666 False skin fragility-woolly hair-palmoplantar keratoderma syndrome diffuse palmoplantar keratoderma UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011883 MONDO:0017666 False Curly hair - acral keratoderma - caries syndrome diffuse palmoplantar keratoderma UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011883 MONDO:0019287 False Curly hair - acral keratoderma - caries syndrome ectodermal dysplasia syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0011884 MONDO:0017672 False hypotrichosis-osteolysis-periodontitis-palmoplantar keratoderma syndrome focal palmoplantar keratoderma UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011884 MONDO:0019287 False hypotrichosis-osteolysis-periodontitis-palmoplantar keratoderma syndrome ectodermal dysplasia syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0011885 MONDO:0005240 False tubulointerstitial nephritis and uveitis syndrome kidney disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011886 MONDO:0015990 False torsion dystonia 13 focal, segmental or multifocal dystonia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011887 MONDO:0003847 False cataract, congenital, with mental impairment and dentate gyrus atrophy hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011888 MONDO:0015979 False immunodeficiency 67 hereditary predisposition to infections UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011889 MONDO:0011909 False Charcot-Marie-Tooth disease type 2I Charcot-Marie-Tooth disease dominant intermediate D UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS +MONDO:0011889 MONDO:0018993 False Charcot-Marie-Tooth disease type 2I Charcot-Marie-Tooth disease type 2 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0011890 MONDO:0019011 False Charcot-Marie-Tooth disease type 1D Charcot-Marie-Tooth disease type 1 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0011892 MONDO:0020573 False epilepsy, idiopathic generalized, susceptibility to, 9 inherited disease susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011894 MONDO:0018993 False Charcot-Marie-Tooth disease type 2E Charcot-Marie-Tooth disease type 2 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0011895 MONDO:0005110 False idiopathic hypereosinophilic syndrome idiopathic cardiomyopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011895 MONDO:0015691 False idiopathic hypereosinophilic syndrome hypereosinophilic syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011895 MONDO:0016340 False idiopathic hypereosinophilic syndrome familial restrictive cardiomyopathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0011896 MONDO:0020573 False Parkinson disease 11, autosomal dominant, susceptibility to inherited disease susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011898 MONDO:0012014 False Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive Charcot-Marie-Tooth disease recessive intermediate A UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0011899 MONDO:0010908 False Noonan syndrome-like disorder with loose anagen hair loose anagen syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS MONDO:0011899 MONDO:0015160 False Noonan syndrome-like disorder with loose anagen hair multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011899 MONDO:0020297 False Noonan syndrome-like disorder with loose anagen hair Noonan syndrome and Noonan-related syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011900 MONDO:0019212 False porokeratosis 4, disseminated superficial actinic type disseminated superficial actinic porokeratosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011901 MONDO:0018993 False Charcot-Marie-Tooth disease axonal type 2H Charcot-Marie-Tooth disease type 2 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0011902 MONDO:0019011 False Charcot-Marie-Tooth disease type 1F Charcot-Marie-Tooth disease type 1 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0011903 MONDO:0011909 False Charcot-Marie-Tooth disease type 2J Charcot-Marie-Tooth disease dominant intermediate D UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS +MONDO:0011903 MONDO:0018993 False Charcot-Marie-Tooth disease type 2J Charcot-Marie-Tooth disease type 2 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0011907 MONDO:0005516 False acrocapitofemoral dysplasia osteochondrodysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0011907 MONDO:0019695 False acrocapitofemoral dysplasia acromelic dysplasia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011908 MONDO:0020311 False juvenile myelomonocytic leukemia chronic myelomonocytic leukemia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0011908 MONDO:0023603 False juvenile myelomonocytic leukemia hereditary disorder of connective tissue UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011909 MONDO:0019548 False Charcot-Marie-Tooth disease dominant intermediate D autosomal dominant intermediate Charcot-Marie-Tooth disease UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011911 MONDO:0003847 False craniolenticulosutural dysplasia hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0011911 MONDO:0015161 False craniolenticulosutural dysplasia multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011913 MONDO:0015140 False Alzheimer disease 3 early-onset autosomal dominant Alzheimer disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011914 MONDO:0007670 False hypotrichosis-lymphedema-telangiectasia syndrome hypotrichosis-lymphedema-telangiectasia syndrome (grouping) UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011914 MONDO:0019313 False hypotrichosis-lymphedema-telangiectasia syndrome lymphatic malformation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS +MONDO:0011916 MONDO:0018993 False Charcot-Marie-Tooth disease axonal type 2K Charcot-Marie-Tooth disease type 2 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0011917 MONDO:0020573 False focal segmental glomerulosclerosis 3, susceptibility to inherited disease susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011918 MONDO:0003847 False anxiety hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011918 MONDO:0005618 False anxiety anxiety disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -25186,14 +21273,19 @@ MONDO:0011921 MONDO:0018751 False aural atresia, congenital hereditary otorhinol MONDO:0011922 MONDO:0003847 False nonimmune chronic idiopathic neutropenia of adults hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011922 MONDO:0700007 False nonimmune chronic idiopathic neutropenia of adults idiopathic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011923 MONDO:0020573 False osteoarthritis susceptibility 3 inherited disease susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011924 MONDO:0031240 False panic disorder 2 familial panic disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0011925 MONDO:0019950 False congenital merosin-deficient muscular dystrophy 1A congenital muscular dystrophy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0011925 MONDO:0100228 False congenital merosin-deficient muscular dystrophy 1A LAMA2-related muscular dystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011926 MONDO:0100171 False psoriasis 9, susceptibility to psoriasis, susceptibility to UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011928 MONDO:0002254 False caudal duplication syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011928 MONDO:0003847 False caudal duplication hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011928 MONDO:0004335 False caudal duplication digestive system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011931 MONDO:0020573 False ovarian cancer, susceptibility to, 1 inherited disease susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011929 MONDO:0016883 False chromosome 1p36 deletion syndrome partial deletion of the short arm of chromosome 1 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011931 MONDO:0015356 False ovarian cancer, susceptibility to, 1 hereditary neoplastic syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011932 MONDO:0018914 False hypotrichosis 6 hypotrichosis simplex UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011933 MONDO:0017740 False ALG2-congenital disorder of glycosylation disorder of protein N-glycosylation UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011934 MONDO:0000653 False dermatofibrosarcoma protuberans integumentary system cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0011934 MONDO:0005164 False dermatofibrosarcoma protuberans fibrosarcoma UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0011934 MONDO:0023603 False dermatofibrosarcoma protuberans hereditary disorder of connective tissue UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011937 MONDO:0017339 False peeling skin syndrome 4 exfoliative ichthyosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011938 MONDO:0100009 False atrial septal defect 2 structural congenital heart disease, multiple types - GATA4 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -25203,21 +21295,34 @@ MONDO:0011941 MONDO:0000070 False mycobacterium tuberculosis, susceptibility to, MONDO:0011942 MONDO:0020573 False systemic lupus erythematosus with nephritis, susceptibility to, 1 inherited disease susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011943 MONDO:0020573 False systemic lupus erythematosus with nephritis, susceptibility to, 2 inherited disease susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011944 MONDO:0020573 False systemic lupus erythematosus with nephritis, susceptibility to, 3 inherited disease susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011945 MONDO:0018150 False Gaucher disease perinatal lethal Gaucher disease UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0011946 MONDO:0019694 False diaphanospondylodysostosis spondylodysplastic dysplasia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011949 MONDO:0003847 False Thai symphalangism syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011951 MONDO:0017161 False amyotrophic lateral sclerosis type 6 frontotemporal dementia with motor neuron disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0011953 MONDO:0100198 False familial acute necrotizing encephalopathy Mendelian encephalopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011954 MONDO:0020573 False melanoma, cutaneous malignant, susceptibility to, 4 inherited disease susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011955 MONDO:0005148 False diabetes mellitus, noninsulin-dependent, 4 type 2 diabetes mellitus UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0011955 MONDO:0015967 False diabetes mellitus, noninsulin-dependent, 4 monogenic diabetes UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011957 MONDO:0031166 False retinal macular dystrophy type 2 macular dystrophy, retinal UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0011958 MONDO:0003847 False bile and pancreatic ducts, complete absence of hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011959 MONDO:0002254 False sweet syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0011959 MONDO:0005093 False sweet syndrome skin disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0011959 MONDO:0005554 False sweet syndrome rheumatic disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0011960 MONDO:0005090 False schizophrenia 11 schizophrenia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS MONDO:0011961 MONDO:0018213 False hereditary sensory and autonomic neuropathy type 1B hereditary sensory and autonomic neuropathy type 1 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0011963 MONDO:0009480 False Joubert syndrome 2 Joubert syndrome with oculorenal defect UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0011964 MONDO:0017740 False DPAGT1-congenital disorder of glycosylation disorder of protein N-glycosylation UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011968 MONDO:0016141 False autosomal recessive limb-girdle muscular dystrophy type 2D qualitative or quantitative defects of alpha-sarcoglycan UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011968 MONDO:0016333 False autosomal recessive limb-girdle muscular dystrophy type 2D familial dilated cardiomyopathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0011969 MONDO:0017740 False ALG8-congenital disorder of glycosylation disorder of protein N-glycosylation UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011970 MONDO:0020072 False rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome childhood-onset epilepsy syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011972 MONDO:0003847 False ovarian hyperstimulation syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0011972 MONDO:0005558 False ovarian hyperstimulation syndrome ovarian disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0011973 MONDO:0003847 False zinc deficiency, transient neonatal hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011975 MONDO:0016779 False paternal uniparental disomy of chromosome 14 multiple congenital anomalies due to 14q32.2 maternally expressed gene defect UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011975 MONDO:0700021 False paternal uniparental disomy of chromosome 14 chromosome 14 disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011975 MONDO:0700086 False paternal uniparental disomy of chromosome 14 uniparental disomy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011976 MONDO:0020087 False lipodystrophy-intellectual disability-deafness syndrome hereditary lipodystrophy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011977 MONDO:0015161 False 8q22.1 microdeletion syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011977 MONDO:0016907 False 8q22.1 microdeletion syndrome partial deletion of the long arm of chromosome 8 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011978 MONDO:0006025 False CoQ-responsive OXPHOS deficiency autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011979 MONDO:0000390 False adult-onset foveomacular vitelliform dystrophy vitelliform macular dystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011980 MONDO:0000162 False autoimmune thyroid disease, susceptibility to, 1 autoimmune thyroid disease, susceptibility to UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -25228,11 +21333,15 @@ MONDO:0011984 MONDO:0000722 False synpolydactyly type 2 non-syndromic synpolydac MONDO:0011984 MONDO:0011348 False synpolydactyly type 2 non-syndromic polydactyly UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011984 MONDO:0800066 False synpolydactyly type 2 polydactyly-syndactyly-triphalangism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011986 MONDO:0008185 False tropical pancreatitis hereditary chronic pancreatitis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0011988 MONDO:0015978 False neutrophil immunodeficiency syndrome functional neutrophil defect UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011988 MONDO:0017855 False neutrophil immunodeficiency syndrome T-B- severe combined immunodeficiency UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011989 MONDO:0100120 False leishmaniasis vector-borne disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011992 MONDO:0015150 False hereditary spastic paraplegia 25 complex hereditary spastic paraplegia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011993 MONDO:0003847 False aspirin resistance hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011995 MONDO:0021147 False cataract - congenital heart disease - neural tube defect syndrome disorder of development or morphogenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011996 MONDO:0023603 False chronic myelogenous leukemia, BCR-ABL1 positive hereditary disorder of connective tissue UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011997 MONDO:0015134 False Hermansky-Pudlak syndrome 2 constitutional neutropenia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011997 MONDO:0015541 False Hermansky-Pudlak syndrome 2 hereditary hemophagocytic lymphohistiocytosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0011998 MONDO:0015358 False autosomal dominant slowed nerve conduction velocity hereditary motor and sensory neuropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012000 MONDO:0003847 False specific phobia hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0012001 MONDO:0003847 False mandibulofacial dysostosis with ptosis, autosomal dominant hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -25240,11 +21349,16 @@ MONDO:0012004 MONDO:0003847 False parathyroid gland carcinoma hereditary disease MONDO:0012005 MONDO:0003847 False growth failure, microcephaly, intellectual disability, cataracts, large joint contractures, osteoporosis, cortical dysplasia, and cerebellar atrophy hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012006 MONDO:0015469 False craniosynostosis with ocular abnormalities and hallucal defects craniosynostosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0012007 MONDO:0003847 False scimitar anomaly, multiple cardiac malformations, and craniofacial and central nervous system abnormalities hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012008 MONDO:0019287 False Lelis syndrome ectodermal dysplasia syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0012009 MONDO:0020573 False coronary heart disease, susceptibility to, 2 inherited disease susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012010 MONDO:0020573 False coronary heart disease, susceptibility to, 4 inherited disease susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012011 MONDO:0003847 False coronary artery disease, autosomal dominant, 1 hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012011 MONDO:0005010 False coronary artery disease, autosomal dominant, 1 coronary artery disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012016 MONDO:0003847 False capillary malformation-arteriovenous malformation syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012012 MONDO:0019548 False Charcot-Marie-Tooth disease dominant intermediate C autosomal dominant intermediate Charcot-Marie-Tooth disease UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012014 MONDO:0017058 False Charcot-Marie-Tooth disease recessive intermediate A autosomal recessive intermediate Charcot-Marie-Tooth disease UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012016 MONDO:0016231 False capillary malformation-arteriovenous malformation syndrome capillary malformation UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012019 MONDO:0016761 False spondyloepiphyseal dysplasia, Kimberley type spondyloepiphyseal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0012020 MONDO:0016972 False chromosome 22q11.2 microduplication syndrome partial duplication of the long arm of chromosome 22 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012024 MONDO:0800401 False retinitis pigmentosa 26 CERKL-related retinopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012025 MONDO:0003847 False branchiootic syndrome 3 hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012025 MONDO:0018878 False branchiootic syndrome 3 branchiootic syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -25253,65 +21367,106 @@ MONDO:0012028 MONDO:0020573 False autoimmune disease, susceptibility to, 3 inher MONDO:0012029 MONDO:0700054 False microcephaly 6, primary, autosomal recessive microcephaly 6 with or without short stature UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012031 MONDO:0021181 False platelet-type bleeding disorder 10 inherited blood coagulation disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012032 MONDO:0005149 False Braddock syndrome pulmonary hypertension UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012032 MONDO:0015161 False Braddock syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012033 MONDO:0003847 False bradyopsia hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0012033 MONDO:0005283 False bradyopsia retinal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0012035 MONDO:0015338 False craniosynostosis-intracranial calcifications syndrome syndromic craniosynostosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012036 MONDO:0020573 False systemic lupus erythematosus, susceptibility to, 4 inherited disease susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012038 MONDO:0003847 False speech-sound disorder hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012039 MONDO:0020573 False myocardial infarction, susceptibility to inherited disease susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012041 MONDO:0006025 False familial adenomatous polyposis 2 autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0012041 MONDO:0016362 False familial adenomatous polyposis 2 attenuated familial adenomatous polyposis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012042 MONDO:0100179 False Hirschsprung disease, susceptibility to, 8 Hirschsprung disease, susceptibility to UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012043 MONDO:0000764 False Reis-Bucklers corneal dystrophy epithelial-stromal TGFBI dystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0012043 MONDO:0020212 False Reis-Bucklers corneal dystrophy superficial corneal dystrophy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012044 MONDO:0000764 False corneal dystrophy, lattice type 3A epithelial-stromal TGFBI dystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012044 MONDO:0004686 False corneal dystrophy, lattice type 3A lattice corneal dystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012046 MONDO:0005349 False congenital corneal opacities, cornea guttata, and corectopia otosclerosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0012047 MONDO:0003847 False alopecia universalis congenita, 10Y gonadal dysgenesis, and laryngomalacia hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012048 MONDO:0002009 False endogenous depression major depressive disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0012048 MONDO:0003847 False endogenous depression hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0012050 MONDO:0020573 False major depressive disorder 1 inherited disease susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012051 MONDO:0005593 False periodontitis, aggressive, 2 chronic periodontitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012052 MONDO:0017740 False ALG1-congenital disorder of glycosylation disorder of protein N-glycosylation UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012054 MONDO:0005090 False schizophrenia 12 schizophrenia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS +MONDO:0012055 MONDO:0018230 False Larsen-like osseous dysplasia-short stature syndrome skeletal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012056 MONDO:0800101 False Leber congenital amaurosis 9 NMNAT1-related retinopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012057 MONDO:0015979 False legionnaire disease, susceptibility to hereditary predisposition to infections UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012058 MONDO:0020573 False myocardial infarction, susceptibility to, 2 inherited disease susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012059 MONDO:0019673 False polydactyly, postaxial, type A4 postaxial polydactyly type A UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012061 MONDO:0001823 False familial sick sinus syndrome sick sinus syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012061 MONDO:0003847 False familial sick sinus syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012063 MONDO:0019054 False ulnar/fibula ray defect-brachydactyly syndrome congenital limb malformation UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012064 MONDO:0003847 False choanal atresia-hearing loss-cardiac defects-craniofacial dysmorphism syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0012064 MONDO:0015161 False choanal atresia-hearing loss-cardiac defects-craniofacial dysmorphism syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012067 MONDO:0010940 False asthma-related traits, susceptibility to, 2 inherited susceptibility to asthma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0012068 MONDO:0003847 False brachial palsy, familial congenital hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012071 MONDO:0018883 False congenital generalized lipodystrophy type 1 Berardinelli-Seip congenital lipodystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012073 MONDO:0019046 False ribose-5-P isomerase deficiency leukodystrophy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0012073 MONDO:0019231 False ribose-5-P isomerase deficiency inborn disorder of pentose phosphate metabolism UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012074 MONDO:0021106 False mandibuloacral dysplasia with type B lipodystrophy laminopathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012075 MONDO:0003847 False oligodontia-cancer predisposition syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012076 MONDO:0003847 False midface hypoplasia, obesity, developmental delay, and neonatal hypotonia hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012078 MONDO:0016364 False Joubert syndrome 3 Joubert syndrome with ocular defect UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012080 MONDO:0015352 False neuronopathy, distal hereditary motor, type 2B distal hereditary motor neuropathy type 2 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0012081 MONDO:0016965 False 15q11q13 microduplication syndrome partial duplication of the long arm of chromosome 15 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012084 MONDO:0017759 False aromatic L-amino acid decarboxylase deficiency disorder of catecholamine synthesis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012089 MONDO:0002051 False ichthyosis prematurity syndrome integumentary system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012089 MONDO:0002254 False ichthyosis prematurity syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012089 MONDO:0003847 False ichthyosis prematurity syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012089 MONDO:0043905 False ichthyosis prematurity syndrome pneumonitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012093 MONDO:0023122 False prostate cancer, hereditary, 3 familial prostate carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0012094 MONDO:0023122 False prostate cancer, hereditary, 4 familial prostate carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0012095 MONDO:0003847 False intellectual disability-brachydactyly-Pierre Robin syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012095 MONDO:0015159 False intellectual disability-brachydactyly-Pierre Robin syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012095 MONDO:0018234 False intellectual disability-brachydactyly-Pierre Robin syndrome dysostosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012095 MONDO:0019054 False intellectual disability-brachydactyly-Pierre Robin syndrome congenital limb malformation UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012096 MONDO:0018993 False Charcot-Marie-Tooth disease axonal type 2L Charcot-Marie-Tooth disease type 2 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0012097 MONDO:0010180 False spondylocostal dysostosis 2, autosomal recessive autosomal recessive spondylocostal dysostosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012098 MONDO:0019792 False spinocerebellar ataxia type 20 autosomal dominant cerebellar ataxia type I UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012099 MONDO:0002320 False AICA-ribosiduria congenital nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012099 MONDO:0015159 False AICA-ribosiduria multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012099 MONDO:0015327 False AICA-ribosiduria developmental anomaly of metabolic origin UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012099 MONDO:0019236 False AICA-ribosiduria inborn disorder of purine metabolism UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012099 MONDO:0020242 False AICA-ribosiduria hereditary macular dystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012100 MONDO:0020573 False major depressive disorder 2 inherited disease susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012101 MONDO:0020367 False glaucoma 1, open angle, J juvenile open angle glaucoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012102 MONDO:0020367 False glaucoma 1, open angle, K juvenile open angle glaucoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012104 MONDO:0027767 False acquired partial lipodystrophy partial lipodystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012105 MONDO:0002462 False granulomatosis with polyangiitis glomerulonephritis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0012103 MONDO:0019792 False spinocerebellar ataxia type 25 autosomal dominant cerebellar ataxia type I UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012104 MONDO:0020089 False acquired partial lipodystrophy acquired lipodystrophy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012105 MONDO:0005046 False granulomatosis with polyangiitis immune system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0012105 MONDO:0015492 False granulomatosis with polyangiitis anti-neutrophil cytoplasmic antibody-associated vasculitis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012107 MONDO:0003847 False neuropathy, hereditary sensory and autonomic, adult-onset, with anosmia hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012108 MONDO:0100510 False spondyloepimetaphyseal dysplasia, matrilin-3 type spondyloepimetaphyseal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012109 MONDO:0020573 False hypertension, essential, susceptibility to, 4 inherited disease susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012110 MONDO:0003847 False growth delay due to insulin-like growth factor type 1 deficiency hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012110 MONDO:0015892 False growth delay due to insulin-like growth factor type 1 deficiency growth hormone insensitivity syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012113 MONDO:0020573 False epilepsy, idiopathic generalized, susceptibility to, 3 inherited disease susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012114 MONDO:0020066 False Ehlers-Danlos syndrome, Beasley-Cohen type Ehlers-Danlos syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0012115 MONDO:0020573 False scoliosis, isolated, susceptibility to, 3 inherited disease susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012116 MONDO:0019792 False spinocerebellar ataxia type 8 autosomal dominant cerebellar ataxia type I UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012117 MONDO:0017740 False ALG9-congenital disorder of glycosylation disorder of protein N-glycosylation UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012118 MONDO:0015327 False COG7-congenital disorder of glycosylation developmental anomaly of metabolic origin UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012118 MONDO:0017750 False COG7-congenital disorder of glycosylation defect in conserved oligomeric Golgi complex UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012123 MONDO:0017749 False congenital disorder of glycosylation type 1E disorder of multiple glycosylation UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012124 MONDO:0003847 False sudden infant death-dysgenesis of the testes syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012124 MONDO:0005087 False sudden infant death-dysgenesis of the testes syndrome respiratory system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012124 MONDO:0020040 False sudden infant death-dysgenesis of the testes syndrome 46,XY disorder of sex development UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012125 MONDO:0017226 False hypomyelinating leukodystrophy 2 Pelizaeus-Merzbacher-like disease UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012126 MONDO:0018379 False familial avascular necrosis of femoral head primary avascular necrosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012126 MONDO:0018383 False familial avascular necrosis of femoral head osteonecrosis of genetic origin UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012127 MONDO:0100493 False autosomal recessive limb-girdle muscular dystrophy type 2J autosomal recessive titinopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012128 MONDO:0019443 False transposition of the great arteries, dextro-looped dextro-looped transposition of the great arteries UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012129 MONDO:0003847 False leukoencephalopathy, arthritis, colitis, and hypogammaglobulinema hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012130 MONDO:0016108 False myofibrillar myopathy 2 autosomal dominant distal myopathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012131 MONDO:0003847 False metaphyseal undermodeling, spondylar dysplasia, and overgrowth hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012131 MONDO:0005172 False metaphyseal undermodeling, spondylar dysplasia, and overgrowth skeletal system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012132 MONDO:0020573 False colorectal cancer, susceptibility to, 1 inherited disease susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012132 MONDO:0015356 False colorectal cancer, susceptibility to, 1 hereditary neoplastic syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012133 MONDO:0003847 False lateral semicircular canal malformation, familial, with external and middle ear abnormalities hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012134 MONDO:0020573 False myoclonic epilepsy, juvenile, susceptibility to, 3 inherited disease susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012136 MONDO:0015515 False carnitine palmitoyl transferase II deficiency, neonatal form carnitine palmitoyltransferase II deficiency UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012137 MONDO:0015285 False Carney complex - trismus - pseudocamptodactyly syndrome Carney complex UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012137 MONDO:0016432 False Carney complex - trismus - pseudocamptodactyly syndrome heart-hand syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012139 MONDO:0031166 False macular dystrophy, retinal, 3 macular dystrophy, retinal UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0012141 MONDO:0020573 False orofacial cleft 6, susceptibility to inherited disease susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012142 MONDO:0015420 False orofacial cleft 5 cleft lip and alveolus UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012142 MONDO:0016043 False orofacial cleft 5 isolated cleft lip UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -25319,6 +21474,7 @@ MONDO:0012142 MONDO:0016044 False orofacial cleft 5 cleft lip/palate UNSUPPORTED MONDO:0012143 MONDO:0000508 False hereditary cryohydrocytosis with reduced stomatin syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012143 MONDO:0003689 False hereditary cryohydrocytosis with reduced stomatin familial hemolytic anemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012143 MONDO:0017706 False hereditary cryohydrocytosis with reduced stomatin disorder of carbohydrate transmembrane transport and absorption UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012143 MONDO:0020102 False hereditary cryohydrocytosis with reduced stomatin hereditary stomatocytosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012144 MONDO:0019517 False Waardenburg syndrome type 2D Waardenburg syndrome type 2 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012147 MONDO:0020573 False coronary heart disease, susceptibility to, 5 inherited disease susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012149 MONDO:0020573 False attention deficit-hyperactivity disorder, susceptibility to, 1 inherited disease susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -25326,19 +21482,29 @@ MONDO:0012150 MONDO:0020573 False attention deficit-hyperactivity disorder, susc MONDO:0012151 MONDO:0020573 False attention deficit-hyperactivity disorder, susceptibility to, 3 inherited disease susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012152 MONDO:0020573 False attention deficit-hyperactivity disorder, susceptibility to, 4 inherited disease susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012153 MONDO:0020573 False Alzheimer disease 9 inherited disease susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012155 MONDO:0002232 False choanal atresia nasal cavity disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0012155 MONDO:0018751 False choanal atresia hereditary otorhinolaryngologic disease UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012156 MONDO:0011088 False myasthenic syndrome, congenital, 1B, fast-channel congenital myasthenic syndrome 1A UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS MONDO:0012157 MONDO:0020344 False congenital myasthenic syndrome 4C postsynaptic congenital myasthenic syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012159 MONDO:0020573 False lung cancer susceptibility 1 inherited disease susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012159 MONDO:0015356 False lung cancer susceptibility 1 hereditary neoplastic syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012160 MONDO:0016763 False spondylometaphyseal dysplasia-cone-rod dystrophy syndrome spondylometaphyseal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS MONDO:0012161 MONDO:0015979 False susceptibility to respiratory infections associated with CD8alpha chain mutation hereditary predisposition to infections UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012163 MONDO:0031520 False immunodeficiency 104 familial severe combined immunodeficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0012163 MONDO:0044200 False immunodeficiency 104 T-B+ severe combined immunodeficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012164 MONDO:0002254 False Meacham syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012164 MONDO:0003847 False Meacham syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012164 MONDO:0020040 False Meacham syndrome 46,XY disorder of sex development UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012165 MONDO:0000110 False BNAR syndrome bifid nose UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012165 MONDO:0002254 False BNAR syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012165 MONDO:0015161 False BNAR syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012165 MONDO:0018751 False BNAR syndrome hereditary otorhinolaryngologic disease UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012166 MONDO:0100309 False autosomal dominant sensory ataxia 1 hereditary ataxia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0012166 MONDO:0100311 False autosomal dominant sensory ataxia 1 sensory ataxia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012168 MONDO:0020573 False dyslexia, susceptibility to, 8 inherited disease susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012171 MONDO:0003847 False marfanoid habitus with situs inversus hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012172 MONDO:0009637 False mitochondrial trifunctional protein deficiency inborn mitochondrial myopathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0012173 MONDO:0017713 False long chain 3-hydroxyacyl-CoA dehydrogenase deficiency disorder of fatty acid oxidation and ketogenesis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012173 MONDO:0020127 False long chain 3-hydroxyacyl-CoA dehydrogenase deficiency hereditary peripheral neuropathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012173 MONDO:0024573 False long chain 3-hydroxyacyl-CoA dehydrogenase deficiency familial hypertrophic cardiomyopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0012174 MONDO:0003847 False peripheral cone dystrophy hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012176 MONDO:0003847 False Emanuel syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -25347,24 +21513,44 @@ MONDO:0012178 MONDO:0003847 False intellectual disability with optic atrophy, fa MONDO:0012179 MONDO:0016158 False narcolepsy 3 narcolepsy-cataplexy syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012181 MONDO:0015150 False hereditary spastic paraplegia 27 complex hereditary spastic paraplegia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012182 MONDO:0003847 False skeletal dysplasia, rhizomelic, with retinitis pigmentosa hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012183 MONDO:0020573 False melanoma, cutaneous malignant, susceptibility to, 3 inherited disease susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012184 MONDO:0006025 False Pierson syndrome autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0012184 MONDO:0013621 False Pierson syndrome LAMB2-related infantile-onset nephrotic syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS +MONDO:0012188 MONDO:0019262 False neuronal ceroid lipofuscinosis 9 juvenile neuronal ceroid lipofuscinosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012192 MONDO:0015327 False permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome developmental anomaly of metabolic origin UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012192 MONDO:0016391 False permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome neonatal diabetes mellitus UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012192 MONDO:0020022 False permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome central nervous system malformation UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012196 MONDO:0019587 False autosomal dominant auditory neuropathy 1 autosomal dominant nonsyndromic hearing loss UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS +MONDO:0012197 MONDO:0015610 False idiopathic aplastic anemia acquired aplastic anemia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012197 MONDO:0700007 False idiopathic aplastic anemia idiopathic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012198 MONDO:0000426 False PCWH syndrome autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0012198 MONDO:0002254 False PCWH syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0012202 MONDO:0021024 False malaria, mild, susceptibility to malaria, susceptibility to UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0012203 MONDO:0003847 False familial hyperthyroidism due to mutations in TSH receptor hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0012203 MONDO:0004425 False familial hyperthyroidism due to mutations in TSH receptor hyperthyroidism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0012204 MONDO:0003689 False familial pseudohyperkalemia familial hemolytic anemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012204 MONDO:0020102 False familial pseudohyperkalemia hereditary stomatocytosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012205 MONDO:0021095 False autosomal dominant striatal neurodegeneration type 1 parkinsonian disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012206 MONDO:0016761 False Czech dysplasia, metatarsal type spondyloepiphyseal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012206 MONDO:0022800 False Czech dysplasia, metatarsal type type 2 collagenopathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012207 MONDO:0003847 False umbilicus, familial flat hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012208 MONDO:0015947 False congenital reticular ichthyosiform erythroderma inherited ichthyosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012209 MONDO:0015160 False branchiogenic deafness syndrome multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012211 MONDO:0017749 False MPDU1-congenital disorder of glycosylation disorder of multiple glycosylation UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012213 MONDO:0015150 False hereditary spastic paraplegia 26 complex hereditary spastic paraplegia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012215 MONDO:0002320 False myofibrillar myopathy 3 congenital nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0012215 MONDO:0015151 False myofibrillar myopathy 3 muscular dystrophy, limb-girdle, autosomal dominant UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS +MONDO:0012215 MONDO:0016108 False myofibrillar myopathy 3 autosomal dominant distal myopathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012216 MONDO:0002254 False foveal hypoplasia - optic nerve decussation defect - anterior segment dysgenesis syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012216 MONDO:0019216 False foveal hypoplasia - optic nerve decussation defect - anterior segment dysgenesis syndrome inborn disorder of amino acid transport UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012216 MONDO:0020249 False foveal hypoplasia - optic nerve decussation defect - anterior segment dysgenesis syndrome hereditary optic neuropathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012217 MONDO:0017195 False Bruck syndrome 2 Bruck syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012217 MONDO:0800064 False Bruck syndrome 2 osteogenesis imperfecta and a reduction of bone mineral density. UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012218 MONDO:0003847 False dandy-walker malformation with occipital cephalocele, autosomal dominant hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012219 MONDO:0019667 False spondyloepiphyseal dysplasia tarda, autosomal recessive, Leroy-Spranger type spondyloepiphyseal dysplasia tarda UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0012221 MONDO:0017779 False alpha-N-acetylgalactosaminidase deficiency type 1 alpha-N-acetylgalactosaminidase deficiency UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0012222 MONDO:0017779 False alpha-N-acetylgalactosaminidase deficiency type 2 alpha-N-acetylgalactosaminidase deficiency UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0012223 MONDO:0003847 False hypotrichosis, progressive patterned scalp, with wiry hair, onycholysis, and cleft lip/palate hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012231 MONDO:0018993 False Charcot-Marie-Tooth disease type 2A2 Charcot-Marie-Tooth disease type 2 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0012237 MONDO:0015738 False nemaline myopathy 6 childhood-onset nemaline myopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012238 MONDO:0008003 False progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2 autosomal dominant progressive external ophthalmoplegia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012239 MONDO:0015736 False congenital myopathy 4B, autosomal recessive intermediate nemaline myopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -25378,21 +21564,41 @@ MONDO:0012242 MONDO:0003847 False syncope, familial vasovagal hereditary disease MONDO:0012243 MONDO:0003847 False B-cell immunodeficiency, distal limb anomalies, and urogenital malformations hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012244 MONDO:0023122 False prostate cancer, hereditary, 5 familial prostate carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0012245 MONDO:0016022 False developmental and epileptic encephalopathy, 3 early myoclonic encephalopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0012246 MONDO:0019793 False spinocerebellar ataxia type 26 autosomal dominant cerebellar ataxia type III UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012247 MONDO:0019792 False spinocerebellar ataxia type 27 autosomal dominant cerebellar ataxia type I UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012248 MONDO:0016184 False autosomal recessive limb-girdle muscular dystrophy type 2K qualitative or quantitative defects of protein O-mannosyltransferase 1 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012248 MONDO:0700070 False autosomal recessive limb-girdle muscular dystrophy type 2K myopathy caused by variation in POMT1 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012249 MONDO:0000426 False Lynch syndrome 2 autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0012250 MONDO:0018995 False Charcot-Marie-Tooth disease type 4H Charcot-Marie-Tooth disease type 4 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0012251 MONDO:0002254 False MEDNIK syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0012251 MONDO:0017762 False MEDNIK syndrome disorder of copper metabolism UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012251 MONDO:0019270 False MEDNIK syndrome erythrokeratoderma UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012251 MONDO:0100118 False MEDNIK syndrome hereditary skin disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012253 MONDO:0016648 False multiple epiphyseal dysplasia, with severe proximal femoral dysplasia multiple epiphyseal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0012254 MONDO:0016648 False multiple epiphyseal dysplasia, with miniepiphyses multiple epiphyseal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0012255 MONDO:0003847 False chromosome 18 pericentric inversion hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012255 MONDO:0043678 False chromosome 18 pericentric inversion chromosome inversion disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012255 MONDO:0700125 False chromosome 18 pericentric inversion chromosome 18 disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012256 MONDO:0015149 False hereditary spastic paraplegia 28 pure hereditary spastic paraplegia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012257 MONDO:0002254 False Cerebrorenodigital syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012259 MONDO:0003847 False colloid cysts of third ventricle hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012260 MONDO:0020376 False cataract 35 early-onset nuclear cataract UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012262 MONDO:0002320 False fibrosis of extraocular muscles, congenital, 3c congenital nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0012263 MONDO:0020573 False autoimmune disease, susceptibility to, 4 inherited disease susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012268 MONDO:0003780 False AIDS T-cell immunodeficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012268 MONDO:0005109 False AIDS HIV infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0012269 MONDO:0016902 False chromosome 3q29 microdeletion syndrome partial deletion of the long arm of chromosome 3 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012271 MONDO:0019530 False mesoaxial synostotic syndactyly with phalangeal reduction non-syndromic syndactyly UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012271 MONDO:0800066 False mesoaxial synostotic syndactyly with phalangeal reduction polydactyly-syndactyly-triphalangism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012272 MONDO:0003847 False intellectual disability, keratoconus, febrile seizures, and sinoatrial block hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012275 MONDO:0016677 False fetal valproate syndrome toxic or drug-related embryofetopathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012276 MONDO:0017704 False generalized epilepsy-paroxysmal dyskinesia syndrome familial partial epilepsy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012277 MONDO:0002320 False myofibrillar myopathy 4 congenital nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0012277 MONDO:0016108 False myofibrillar myopathy 4 autosomal dominant distal myopathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012277 MONDO:0016190 False myofibrillar myopathy 4 qualitative or quantitative defects of protein ZASP UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012278 MONDO:0019037 False supranuclear palsy, progressive, 2 progressive supranuclear palsy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012280 MONDO:0002254 False Goldberg-Shprintzen megacolon syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0012280 MONDO:0003847 False Goldberg-Shprintzen megacolon syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0012280 MONDO:0015159 False Goldberg-Shprintzen megacolon syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012280 MONDO:0021189 False Goldberg-Shprintzen megacolon syndrome intestinal motility disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012282 MONDO:0002254 False Al-Gazali syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012282 MONDO:0003847 False Al-Gazali syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -25404,18 +21610,27 @@ MONDO:0012286 MONDO:0010684 False myopathy, autophagic vacuolar, infantile-onset MONDO:0012287 MONDO:0007160 False Stickler syndrome, type I, nonsyndromic ocular Stickler syndrome type 1 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0012288 MONDO:0003847 False iridogoniodysgenesis and skeletal anomalies hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012289 MONDO:0002320 False myofibrillar myopathy 5 congenital nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0012289 MONDO:0016189 False myofibrillar myopathy 5 qualitative or quantitative defects of filamin C UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012290 MONDO:0002254 False CEDNIK syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0012290 MONDO:0017666 False CEDNIK syndrome diffuse palmoplantar keratoderma UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012291 MONDO:0001341 False immunoglobulin A deficiency 2 selective IgA deficiency disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012292 MONDO:0015979 False hepatitis C virus, susceptibility to hereditary predisposition to infections UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012295 MONDO:0000015 False complement component 5 deficiency classic complement early component deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012295 MONDO:0015700 False complement component 5 deficiency immunodeficiency due to a late component of complement deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012296 MONDO:0018075 False lipomyelomeningocele neural tube defect UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012297 MONDO:0015150 False SPOAN syndrome complex hereditary spastic paraplegia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012298 MONDO:0003847 False omphalocele, diaphragmatic hernia, and radial ray defects hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012300 MONDO:0023122 False prostate cancer, hereditary, 6 familial prostate carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0012301 MONDO:0019238 False mitochondrial DNA depletion syndrome, myopathic form inborn disorder of pyrimidine metabolism UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0012307 MONDO:0015704 False familial scaphocephaly syndrome, McGillivray type familial scaphocephaly syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012310 MONDO:0007614 False fibrosis of extraocular muscles, congenital, with synergistic divergence congenital fibrosis of extraocular muscles UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0012311 MONDO:0003847 False spondylomegaepiphyseal dysplasia with upper limb mesomelia, punctate calcifications, and deafness hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012315 MONDO:0016909 False distal 10q deletion syndrome partial monosomy of the long arm of chromosome 10 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012316 MONDO:0005046 False Majeed syndrome immune system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012316 MONDO:0005570 False Majeed syndrome hematologic disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012316 MONDO:0023603 False Majeed syndrome hereditary disorder of connective tissue UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012317 MONDO:0017574 False visceral neuropathy, familial, 3, autosomal dominant chronic intestinal pseudoobstruction UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012318 MONDO:0020573 False leukemia, chronic lymphocytic, susceptibility to, 1 inherited disease susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012318 MONDO:0015356 False leukemia, chronic lymphocytic, susceptibility to, 1 hereditary neoplastic syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012319 MONDO:0003847 False major affective disorder 3 hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012319 MONDO:0004985 False major affective disorder 3 bipolar disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012321 MONDO:0015140 False Alzheimer disease 10 early-onset autosomal dominant Alzheimer disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -25423,42 +21638,65 @@ MONDO:0012322 MONDO:0017219 False holoprosencephaly 5 microform holoprosencephal MONDO:0012322 MONDO:0019756 False holoprosencephaly 5 lobar holoprosencephaly UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012322 MONDO:0019757 False holoprosencephaly 5 alobar holoprosencephaly UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012323 MONDO:0015550 False lethal acantholytic epidermolysis bullosa suprabasal epidermolysis bullosa simplex UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012324 MONDO:0015161 False Frias syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012324 MONDO:0016912 False Frias syndrome partial deletion of the long arm of chromosome 14 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012325 MONDO:0003847 False Nguyen syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012328 MONDO:0003847 False trichilemmal cyst hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012329 MONDO:0003847 False short stature and Facioauriculothoracic malformations hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012330 MONDO:0019707 False talo-patello-scaphoid osteolysis primary osteolysis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012334 MONDO:0015087 False hereditary spastic paraplegia 29 autosomal dominant complex spastic paraplegia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012335 MONDO:0019182 False obesity due to pro-opiomelanocortin deficiency inherited obesity UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0012336 MONDO:0011060 False cataract 22 multiple types early-onset non-syndromic cataract UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0012338 MONDO:0020573 False epilepsy, idiopathic generalized, susceptibility to, 4 inherited disease susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012339 MONDO:0020573 False celiac disease, susceptibility to, 4 inherited disease susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012340 MONDO:0020573 False celiac disease, susceptibility to, 2 inherited disease susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012341 MONDO:0020573 False celiac disease, susceptibility to, 3 inherited disease susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012342 MONDO:0003847 False 7q11.23 microduplication syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0012342 MONDO:0016958 False 7q11.23 microduplication syndrome partial duplication of the long arm of chromosome 7 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012344 MONDO:0015140 False Alzheimer disease 11 early-onset autosomal dominant Alzheimer disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012347 MONDO:0003847 False hamartoma, Precalcaneal congenital fibrolipomatous hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012348 MONDO:0018911 False maturity-onset diabetes of the young type 8 maturity-onset diabetes of the young UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS MONDO:0012349 MONDO:0010180 False spondylocostal dysostosis 3, autosomal recessive autosomal recessive spondylocostal dysostosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012350 MONDO:0005334 False complement factor H deficiency hereditary nephritis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012350 MONDO:0018013 False complement factor H deficiency non-immunoglobulin-mediated membranoproliferative glomerulonephritis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012351 MONDO:0008512 False zygodactyly type 1 syndactyly type 1 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS MONDO:0012352 MONDO:0003847 False vasculitis, lymphocytic, cutaneous small vessel hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012354 MONDO:0021181 False platelet-type bleeding disorder 8 inherited blood coagulation disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012358 MONDO:0015979 False leprosy, susceptibility to, 1 hereditary predisposition to infections UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012359 MONDO:0017855 False combined immunodeficiency due to partial RAG1 deficiency T-B- severe combined immunodeficiency UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012360 MONDO:0019995 False congenital nongoitrous hypothryoidism 3 peripheral resistance to thyroid hormones UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012361 MONDO:0020573 False systemic lupus erythematosus, susceptibility to, 5 inherited disease susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012367 MONDO:0700233 False retinitis pigmentosa 31 TOPORS-related retinopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012368 MONDO:0004736 False aminoacylase 1 deficiency inborn disorder of amino acid metabolism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012368 MONDO:0017686 False aminoacylase 1 deficiency inborn aminoacylase deficiency UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012369 MONDO:0020573 False systemic lupus erythematosus, susceptibility to, 6 inherited disease susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012373 MONDO:0003847 False ectodermal dysplasia, sensorineural hearing loss, and distinctive facial features hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012374 MONDO:0003847 False brachyphalangy, polydactyly, and tibial aplasia/hypoplasia hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012379 MONDO:0010940 False asthma-related traits, susceptibility to, 3 inherited susceptibility to asthma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0012381 MONDO:0017182 False hyperinsulinism due to INSR deficiency familial hyperinsulinism UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012382 MONDO:0015624 False hyperinsulinemic hypoglycemia, familial, 4 diazoxide-sensitive diffuse hyperinsulinism UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012384 MONDO:0031240 False panic disorder 3 familial panic disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0012385 MONDO:0003847 False metaphyseal chondrodysplasia with cone-shaped epiphyses, normal hair, and normal hands hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012386 MONDO:0003847 False trichoscyphodysplasia hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012387 MONDO:0002254 False osteosclerosis-ichthyosis-premature ovarian failure syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012387 MONDO:0019852 False osteosclerosis-ichthyosis-premature ovarian failure syndrome inherited primary ovarian failure UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0012390 MONDO:0003847 False arthrogryposis multiplex with deafness, inguinal hernias, and early death hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012391 MONDO:0010830 False neuronal ceroid lipofuscinosis 8 northern epilepsy variant neuronal ceroid lipofuscinosis 8 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS MONDO:0012391 MONDO:0015905 False neuronal ceroid lipofuscinosis 8 northern epilepsy variant syndromic dyslipidemia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012391 MONDO:0020074 False neuronal ceroid lipofuscinosis 8 northern epilepsy variant progressive myoclonus epilepsy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS +MONDO:0012392 MONDO:0019215 False 2-methylbutyryl-CoA dehydrogenase deficiency classic organic aciduria UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012393 MONDO:0017352 False congenital brain dysgenesis due to glutamine synthetase deficiency disorder of glutamine metabolism UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012396 MONDO:0015624 False exercise-induced hyperinsulinism diazoxide-sensitive diffuse hyperinsulinism UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012396 MONDO:0017706 False exercise-induced hyperinsulinism disorder of carbohydrate transmembrane transport and absorption UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012397 MONDO:0003847 False brachydactyly, coloboma, and anterior segment dysgenesis hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012398 MONDO:0003847 False retinal cone dystrophy 3A hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0012398 MONDO:0018852 False retinal cone dystrophy 3A achromatopsia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0012399 MONDO:0015159 False complex cortical dysplasia with other brain malformations 7 multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012399 MONDO:0016162 False complex cortical dysplasia with other brain malformations 7 bilateral frontal polymicrogyria UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0012400 MONDO:0002254 False cortical dysplasia-focal epilepsy syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0012400 MONDO:0003847 False cortical dysplasia-focal epilepsy syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0012400 MONDO:0016377 False cortical dysplasia-focal epilepsy syndrome Pitt-Hopkins-like syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012401 MONDO:0003847 False congenital stromal corneal dystrophy hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0012401 MONDO:0020213 False congenital stromal corneal dystrophy stromal corneal dystrophy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0012402 MONDO:0020573 False opioid dependence, susceptibility to, 1 inherited disease susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012403 MONDO:0020573 False systemic lupus erythematosus, susceptibility to, 7 inherited disease susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012404 MONDO:0020573 False systemic lupus erythematosus, susceptibility to, 8 inherited disease susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -25467,44 +21705,63 @@ MONDO:0012406 MONDO:0019060 False hyperparathyroidism 3 bone neoplasm UNSUPPORTE MONDO:0012406 MONDO:0023603 False hyperparathyroidism 3 hereditary disorder of connective tissue UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012406 MONDO:0800096 False hyperparathyroidism 3 abnormal mineralization disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012407 MONDO:0015653 False pyridoxal phosphate-responsive seizures monogenic epilepsy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012407 MONDO:0019237 False pyridoxal phosphate-responsive seizures inborn disorder of pyridoxine metabolism UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012407 MONDO:0100033 False pyridoxal phosphate-responsive seizures metabolic epilepsy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012408 MONDO:0012409 False microphthalmia, isolated, with coloboma 3 isolated microphthalmia 2 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0012409 MONDO:0016764 False isolated microphthalmia 2 isolated anophthalmia-microphthalmia syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012410 MONDO:0016108 False Finnish upper limb-onset distal myopathy autosomal dominant distal myopathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012411 MONDO:0018993 False giant axonal neuropathy 2 Charcot-Marie-Tooth disease type 2 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0012412 MONDO:0000015 False complement component 7 deficiency classic complement early component deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012412 MONDO:0015700 False complement component 7 deficiency immunodeficiency due to a late component of complement deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012414 MONDO:0015674 False neuronal ceroid lipofuscinosis 10 late infantile neuronal ceroid lipofuscinosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012414 MONDO:0019260 False neuronal ceroid lipofuscinosis 10 adult neuronal ceroid lipofuscinosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012414 MONDO:0019262 False neuronal ceroid lipofuscinosis 10 juvenile neuronal ceroid lipofuscinosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012415 MONDO:0008003 False progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4 autosomal dominant progressive external ophthalmoplegia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012416 MONDO:0003847 False Devriendt syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012417 MONDO:0000426 False heart-hand syndrome, Slovenian type autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012417 MONDO:0016432 False heart-hand syndrome, Slovenian type heart-hand syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012422 MONDO:0010255 False type 1 diabetes mellitus 19 diabetes mellitus, insulin-dependent, X-linked, susceptibility to UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0012423 MONDO:0003847 False MORM syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012426 MONDO:0015703 False immunodeficiency 25 T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012428 MONDO:0003847 False kyphoscoliosis 1 hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012431 MONDO:0005711 False diaphragmatic hernia 3 congenital diaphragmatic hernia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0012432 MONDO:0009480 False Joubert syndrome 5 Joubert syndrome with oculorenal defect UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0012432 MONDO:0100451 False Joubert syndrome 5 CEP290-related ciliopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012433 MONDO:0100451 False Senior-Loken syndrome 6 CEP290-related ciliopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012436 MONDO:0016391 False neonatal diabetes mellitus with congenital hypothyroidism neonatal diabetes mellitus UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0012437 MONDO:0011060 False cataract 21 multiple types early-onset non-syndromic cataract UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0012444 MONDO:0017998 False neurodegeneration with brain iron accumulation 2B PLA2G6-associated neurodegeneration UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012446 MONDO:0019268 False seborrhea-like dermatitis with psoriasiform elements epidermal disease UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012446 MONDO:0100118 False seborrhea-like dermatitis with psoriasiform elements hereditary skin disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012447 MONDO:0000722 False synpolydactyly type 3 non-syndromic synpolydactyly UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012449 MONDO:0019792 False spinocerebellar ataxia type 23 autosomal dominant cerebellar ataxia type I UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012450 MONDO:0016387 False spinocerebellar ataxia type 28 mitochondrial oxidative phosphorylation disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012450 MONDO:0019792 False spinocerebellar ataxia type 28 autosomal dominant cerebellar ataxia type I UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012451 MONDO:0003847 False esophagitis, eosinophilic, 1 hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012451 MONDO:0005361 False esophagitis, eosinophilic, 1 eosinophilic esophagitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012454 MONDO:0003847 False alcohol sensitivity, acute hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012454 MONDO:0020683 False alcohol sensitivity, acute acute disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012454 MONDO:0021698 False alcohol sensitivity, acute alcohol-related disorders UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012455 MONDO:0003847 False Kleefstra syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0012455 MONDO:0015159 False Kleefstra syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012458 MONDO:0020573 False hypertension, essential, susceptibility to, 5 inherited disease susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012459 MONDO:0020573 False hypertension, essential, susceptibility to, 6 inherited disease susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012462 MONDO:0005560 False autosomal recessive frontotemporal pachygyria brain disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012462 MONDO:0021147 False autosomal recessive frontotemporal pachygyria disorder of development or morphogenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012465 MONDO:0009332 False hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency congenital hematological disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012465 MONDO:0017748 False hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency inborn disorder of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012465 MONDO:0021181 False hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency inherited blood coagulation disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012466 MONDO:0020573 False Parkinson disease 13, autosomal dominant, susceptibility to inherited disease susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012468 MONDO:0003847 False rhizomelic dysplasia, scoliosis, and retinitis pigmentosa hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012470 MONDO:0023122 False prostate cancer, hereditary, 7 familial prostate carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0012473 MONDO:0003847 False right pulmonary artery, anomalous origin of, familial hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012474 MONDO:0020300 False autosomal dominant nocturnal frontal lobe epilepsy 4 autosomal dominant nocturnal frontal lobe epilepsy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0012475 MONDO:0000455 False cone dystrophy with supernormal rod response cone dystrophy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0012476 MONDO:0700055 False hereditary spastic paraplegia 30 KIF1A related neurological disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012477 MONDO:0800098 False retinitis pigmentosa 33 SNRNP200-related dominant retinopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012480 MONDO:0020525 False diabetes mellitus, transient neonatal, 2 transient neonatal diabetes mellitus UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012481 MONDO:0005328 False mevalonic aciduria eye disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0012481 MONDO:0017708 False mevalonic aciduria mevalonate kinase deficiency UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012482 MONDO:0015979 False West Nile virus, susceptibility to hereditary predisposition to infections UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012484 MONDO:0003227 False prosopagnosia, hereditary prosopagnosia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012484 MONDO:0003847 False prosopagnosia, hereditary hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -25514,26 +21771,43 @@ MONDO:0012489 MONDO:0011060 False cataract 23 early-onset non-syndromic cataract MONDO:0012490 MONDO:0002320 False cone-rod synaptic disorder, congenital nonprogressive congenital nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012490 MONDO:0016293 False cone-rod synaptic disorder, congenital nonprogressive congenital stationary night blindness UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0012494 MONDO:0003847 False testicular microlithiasis hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012495 MONDO:0100510 False spondyloepimetaphyseal dysplasia, Genevieve type spondyloepimetaphyseal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0012496 MONDO:0003847 False Koolen-de Vries syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012496 MONDO:0015159 False Koolen-de Vries syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012497 MONDO:0000426 False congenital stationary night blindness autosomal dominant 3 autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0012497 MONDO:0002320 False congenital stationary night blindness autosomal dominant 3 congenital nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0012498 MONDO:0002320 False congenital stationary night blindness autosomal dominant 1 congenital nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0012499 MONDO:0015979 False Buruli ulcer, susceptibility to hereditary predisposition to infections UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012502 MONDO:0018891 False normophosphatemic familial tumoral calcinosis familial tumoral calcinosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012502 MONDO:0019052 False normophosphatemic familial tumoral calcinosis inborn errors of metabolism UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0012504 MONDO:0000429 False camptodactyly-tall stature-scoliosis-hearing loss syndrome autosomal genetic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0012504 MONDO:0019685 False camptodactyly-tall stature-scoliosis-hearing loss syndrome FGFR3-related chondrodysplasia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012507 MONDO:0000455 False retinal cone dystrophy 4 cone dystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0012507 MONDO:0015993 False retinal cone dystrophy 4 cone-rod dystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS +MONDO:0012507 MONDO:0700244 False retinal cone dystrophy 4 CACNA2D4-related retinopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012508 MONDO:0001902 False agammaglobulinemia-microcephaly-craniosynostosis-severe dermatitis syndrome congenital agammaglobulinemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012508 MONDO:0015159 False agammaglobulinemia-microcephaly-craniosynostosis-severe dermatitis syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012508 MONDO:0016463 False agammaglobulinemia-microcephaly-craniosynostosis-severe dermatitis syndrome syndromic agammaglobulinemia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012511 MONDO:0002263 False preterm premature rupture of the membranes female reproductive system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0012511 MONDO:0003847 False preterm premature rupture of the membranes hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0012513 MONDO:0018911 False maturity-onset diabetes of the young type 7 maturity-onset diabetes of the young UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS MONDO:0012515 MONDO:0020367 False glaucoma 1, open angle, M juvenile open angle glaucoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012516 MONDO:0000426 False mandibulofacial dysostosis-microcephaly syndrome autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0012516 MONDO:0015159 False mandibulofacial dysostosis-microcephaly syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012516 MONDO:0018237 False mandibulofacial dysostosis-microcephaly syndrome acrofacial dysostosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0012517 MONDO:0100517 False Gaucher disease due to saposin C deficiency PSAP-related sphingolipidosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012519 MONDO:0022752 False Rubinstein-Taybi syndrome due to 16p13.3 microdeletion chromosome 16p13.3 deletion syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012520 MONDO:0001933 False insulin-resistance syndrome type A endocrine pancreas disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012520 MONDO:0003847 False insulin-resistance syndrome type A hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012521 MONDO:0004609 False herpes simplex encephalitis herpes simplex infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012522 MONDO:0020525 False diabetes mellitus, transient neonatal, 3 transient neonatal diabetes mellitus UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012524 MONDO:0003847 False corticosterone methyloxidase type 2 deficiency hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012524 MONDO:0020489 False corticosterone methyloxidase type 2 deficiency familial hyperreninemic hypoaldosteronism type 1 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012524 MONDO:0018541 False corticosterone methyloxidase type 2 deficiency familial hypoaldosteronism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012525 MONDO:0700235 False Leber congenital amaurosis 12 RD3-related retinopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012527 MONDO:0011060 False cataract 11 multiple types early-onset non-syndromic cataract UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0012528 MONDO:0018800 False hypogonadotropic hypogonadism 4 with or without anosmia Kallmann syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0012530 MONDO:0006025 False palmoplantar keratoderma-XX sex reversal-predisposition to squamous cell carcinoma syndrome autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012530 MONDO:0017576 False palmoplantar keratoderma-XX sex reversal-predisposition to squamous cell carcinoma syndrome 46,XX disorder of sex development UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012530 MONDO:0017666 False palmoplantar keratoderma-XX sex reversal-predisposition to squamous cell carcinoma syndrome diffuse palmoplantar keratoderma UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012531 MONDO:0016354 False xeroderma pigmentosum group B xeroderma pigmentosum-Cockayne syndrome complex UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012535 MONDO:0003847 False holoprosencephaly, recurrent infections, and monocytosis hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012536 MONDO:0800064 False osteogenesis imperfecta type 7 osteogenesis imperfecta and a reduction of bone mineral density. UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -25542,18 +21816,28 @@ MONDO:0012538 MONDO:0015737 False nemaline myopathy 7 typical nemaline myopathy MONDO:0012541 MONDO:0003847 False deafness with labyrinthine aplasia, microtia, and microdontia hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012542 MONDO:0100171 False psoriasis 8, susceptibility to psoriasis, susceptibility to UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012543 MONDO:0020250 False optic atrophy 5 autosomal dominant optic atrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012544 MONDO:0000429 False brachydactyly-syndactyly syndrome autosomal genetic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0012544 MONDO:0005172 False brachydactyly-syndactyly syndrome skeletal system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012545 MONDO:0015611 False neutral lipid storage myopathy neutral lipid storage disease UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012546 MONDO:0019006 False nephrotic syndrome, type 3 familial idiopathic steroid-resistant nephrotic syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012548 MONDO:0015356 False Kostmann syndrome hereditary neoplastic syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012548 MONDO:0028226 False Kostmann syndrome autosomal recessive severe congenital neutropenia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012548 MONDO:0060782 False Kostmann syndrome premalignant hematological system disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012550 MONDO:0003847 False iris pattern hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012551 MONDO:0019080 False alopecia areata 2 alopecia totalis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012552 MONDO:0000426 False multiple endocrine neoplasia type 4 autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0012555 MONDO:0019713 False Cornelia de Lange syndrome 3 non-syndromic limb reduction defect UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012556 MONDO:0002254 False DK1-congenital disorder of glycosylation syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0012556 MONDO:0016333 False DK1-congenital disorder of glycosylation familial dilated cardiomyopathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0012556 MONDO:0017749 False DK1-congenital disorder of glycosylation disorder of multiple glycosylation UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012556 MONDO:0100118 False DK1-congenital disorder of glycosylation hereditary skin disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012557 MONDO:0006025 False cardiomyopathy-hypotonia-lactic acidosis syndrome autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012557 MONDO:0006040 False cardiomyopathy-hypotonia-lactic acidosis syndrome lactic acidosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012557 MONDO:0016801 False cardiomyopathy-hypotonia-lactic acidosis syndrome mitochondrial substrate carrier disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012557 MONDO:0024573 False cardiomyopathy-hypotonia-lactic acidosis syndrome familial hypertrophic cardiomyopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0012558 MONDO:0003847 False epiphyseal dysplasia, Baumann type hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012559 MONDO:0003847 False primary immunodeficiency syndrome due to p14 deficiency hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012559 MONDO:0015134 False primary immunodeficiency syndrome due to p14 deficiency constitutional neutropenia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012563 MONDO:0017219 False holoprosencephaly 9 microform holoprosencephaly UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0012563 MONDO:0019756 False holoprosencephaly 9 lobar holoprosencephaly UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012563 MONDO:0019757 False holoprosencephaly 9 alobar holoprosencephaly UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -25561,7 +21845,9 @@ MONDO:0012564 MONDO:0003847 False Polyosteolysis-hyperostosis syndrome hereditar MONDO:0012568 MONDO:0020573 False osteoarthritis susceptibility 4 inherited disease susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012570 MONDO:0100118 False body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency hereditary skin disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012572 MONDO:0003847 False Sakoda complex hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012574 MONDO:0002254 False Potocki-Lupski syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0012574 MONDO:0003847 False Potocki-Lupski syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0012574 MONDO:0016950 False Potocki-Lupski syndrome partial duplication of the short arm of chromosome 17 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012575 MONDO:0007029 False branchiootorenal syndrome 2 branchio-oto-renal syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0012576 MONDO:0019037 False supranuclear palsy, progressive, 3 progressive supranuclear palsy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012577 MONDO:0010940 False asthma-related traits, susceptibility to, 4 inherited susceptibility to asthma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0012579 MONDO:0001437 False autoimmune pulmonary alveolar proteinosis pulmonary alveolar proteinosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -25574,20 +21860,33 @@ MONDO:0012585 MONDO:0020573 False coronary heart disease, susceptibility to, 7 i MONDO:0012586 MONDO:0003847 False coronary artery disease, autosomal dominant 2 hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012586 MONDO:0005010 False coronary artery disease, autosomal dominant 2 coronary artery disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012587 MONDO:0020573 False hypertension, essential, susceptibility to, 7 inherited disease susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012588 MONDO:0015674 False neuronal ceroid lipofuscinosis 7 late infantile neuronal ceroid lipofuscinosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012589 MONDO:0003847 False Pitt-Hopkins syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0012589 MONDO:0015159 False Pitt-Hopkins syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012590 MONDO:0003847 False XFE progeroid syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0012591 MONDO:0800064 False osteogenesis imperfecta type 5 osteogenesis imperfecta and a reduction of bone mineral density. UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012592 MONDO:0800064 False osteogenesis imperfecta type 11 osteogenesis imperfecta and a reduction of bone mineral density. UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012593 MONDO:0002254 False brain-lung-thyroid syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012593 MONDO:0003847 False brain-lung-thyroid syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012593 MONDO:0005151 False brain-lung-thyroid syndrome endocrine system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012593 MONDO:0005395 False brain-lung-thyroid syndrome movement disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012594 MONDO:0003832 False complement factor I deficiency complement deficiency UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0012595 MONDO:0015979 False leprosy, susceptibility to, 4 hereditary predisposition to infections UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012596 MONDO:0018162 False PSAT deficiency neurometabolic disorder due to serine deficiency UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012597 MONDO:0023122 False prostate cancer, hereditary, 9 familial prostate carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0012599 MONDO:0020573 False hypertension, essential, susceptibility to, 8 inherited disease susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012604 MONDO:0016764 False isolated microphthalmia 3 isolated anophthalmia-microphthalmia syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012606 MONDO:0000070 False mycobacterium tuberculosis, susceptibility to, 2 mycobacterium tuberculosis, susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012607 MONDO:0010940 False asthma-related traits, susceptibility to, 5 inherited susceptibility to asthma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0012608 MONDO:0001516 False neuronopathy, distal hereditary motor, autosomal recessive 4 spinal muscular atrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0012608 MONDO:0015363 False neuronopathy, distal hereditary motor, autosomal recessive 4 neuronopathy, distal hereditary motor, autosomal recessive UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS MONDO:0012609 MONDO:0015140 False Alzheimer disease 12 early-onset autosomal dominant Alzheimer disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012611 MONDO:0015653 False polyhydramnios, megalencephaly, and symptomatic epilepsy monogenic epilepsy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012620 MONDO:0023122 False prostate cancer, hereditary, 10 familial prostate carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0012621 MONDO:0002254 False deafness-infertility syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012621 MONDO:0016913 False deafness-infertility syndrome partial deletion of the long arm of chromosome 15 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012622 MONDO:0016387 False leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome mitochondrial oxidative phosphorylation disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012622 MONDO:0019046 False leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome leukodystrophy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0012624 MONDO:0017713 False acyl-CoA dehydrogenase 9 deficiency disorder of fatty acid oxidation and ketogenesis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012626 MONDO:0100451 False Meckel syndrome, type 4 CEP290-related ciliopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012626 MONDO:0800066 False Meckel syndrome, type 4 polydactyly-syndactyly-triphalangism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -25598,26 +21897,46 @@ MONDO:0012630 MONDO:0015140 False Alzheimer disease 13 early-onset autosomal dom MONDO:0012631 MONDO:0015140 False Alzheimer disease 14 early-onset autosomal dominant Alzheimer disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012634 MONDO:0003847 False craniofacial dysplasia - osteopenia syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012634 MONDO:0021147 False craniofacial dysplasia - osteopenia syndrome disorder of development or morphogenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012635 MONDO:0017750 False COG8-congenital disorder of glycosylation defect in conserved oligomeric Golgi complex UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012637 MONDO:0002254 False COG1-congenital disorder of glycosylation syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0012637 MONDO:0005267 False COG1-congenital disorder of glycosylation heart disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0012637 MONDO:0015327 False COG1-congenital disorder of glycosylation developmental anomaly of metabolic origin UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012637 MONDO:0017750 False COG1-congenital disorder of glycosylation defect in conserved oligomeric Golgi complex UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012638 MONDO:0004884 False microphthalmia-brain atrophy syndrome eye degenerative disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0012638 MONDO:0024237 False microphthalmia-brain atrophy syndrome inherited neurodegenerative disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012639 MONDO:0015150 False hereditary spastic paraplegia 18 complex hereditary spastic paraplegia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012640 MONDO:0018995 False Charcot-Marie-Tooth disease type 4J Charcot-Marie-Tooth disease type 4 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0012642 MONDO:0003847 False major affective disorder 4 hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012642 MONDO:0004985 False major affective disorder 4 bipolar disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012643 MONDO:0015150 False hereditary spastic paraplegia 32 complex hereditary spastic paraplegia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012645 MONDO:0020367 False glaucoma 1, open angle, N juvenile open angle glaucoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012648 MONDO:0019215 False isobutyryl-CoA dehydrogenase deficiency classic organic aciduria UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012650 MONDO:0017855 False Cernunnos-XLF deficiency T-B- severe combined immunodeficiency UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012650 MONDO:0031520 False Cernunnos-XLF deficiency familial severe combined immunodeficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0012651 MONDO:0015150 False spastic ataxia 2 complex hereditary spastic paraplegia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012655 MONDO:0020573 False myoclonic epilepsy, juvenile, susceptibility to, 4 inherited disease susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012656 MONDO:0015161 False lethal congenital contracture syndrome 3 multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012657 MONDO:0003847 False Mungan syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012658 MONDO:0019676 False brachydactyly type B2 brachydactyly type B UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012658 MONDO:0100521 False brachydactyly type B2 NOG-related symphalangism spectrum disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012660 MONDO:0015979 False susceptibility to visceral leishmaniasis, 2 hereditary predisposition to infections UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012661 MONDO:0015979 False susceptibility to visceral leishmaniasis, 3 hereditary predisposition to infections UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012662 MONDO:0016484 False Usher syndrome type 2D Usher syndrome type 2 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0012664 MONDO:0016387 False spastic ataxia 3 mitochondrial oxidative phosphorylation disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012664 MONDO:0017847 False spastic ataxia 3 autosomal recessive spastic ataxia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012665 MONDO:0011060 False cataract 33 early-onset non-syndromic cataract UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0012666 MONDO:0010940 False asthma-related traits, susceptibility to, 6 inherited susceptibility to asthma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0012668 MONDO:0003847 False Tented eyebrows hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012669 MONDO:0019289 False Legius syndrome hyperpigmentation of the skin UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012669 MONDO:0019755 False Legius syndrome developmental defect during embryogenesis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012669 MONDO:0020297 False Legius syndrome Noonan syndrome and Noonan-related syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012669 MONDO:0100118 False Legius syndrome hereditary skin disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012672 MONDO:0006026 False cholelithiasis urinary bladder disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0012673 MONDO:0020573 False colorectal cancer, susceptibility to, 2 inherited disease susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012673 MONDO:0015356 False colorectal cancer, susceptibility to, 2 hereditary neoplastic syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012675 MONDO:0003847 False corticosteroid-binding globulin deficiency hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0012675 MONDO:0005495 False corticosteroid-binding globulin deficiency adrenal gland disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0012682 MONDO:0015979 False immunodeficiency 35 hereditary predisposition to infections UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012683 MONDO:0016387 False pontocerebellar hypoplasia type 6 mitochondrial oxidative phosphorylation disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012685 MONDO:0003847 False major affective disorder 5 hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012685 MONDO:0004985 False major affective disorder 5 bipolar disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012686 MONDO:0003847 False major affective disorder 6 hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -25626,8 +21945,10 @@ MONDO:0012687 MONDO:0003847 False familial cavitary optic disk anomaly hereditar MONDO:0012687 MONDO:0005328 False familial cavitary optic disk anomaly eye disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012688 MONDO:0011060 False cataract 17 multiple types early-onset non-syndromic cataract UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0012692 MONDO:0003847 False renal tubular acidosis, distal, with nephrocalcinosis, short stature, intellectual disability, and distinctive facies hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012693 MONDO:0002412 False glycogen storage disease due to muscle and heart glycogen synthase deficiency disorder of glycogen metabolism UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0012695 MONDO:0800066 False Meckel syndrome, type 5 polydactyly-syndactyly-triphalangism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012698 MONDO:0019517 False Waardenburg syndrome type 2E Waardenburg syndrome type 2 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012699 MONDO:0016333 False autosomal recessive limb-girdle muscular dystrophy type 2M familial dilated cardiomyopathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0012699 MONDO:0700067 False autosomal recessive limb-girdle muscular dystrophy type 2M myopathy caused by variation in FKTN UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012700 MONDO:0003689 False renal tubular acidosis, distal, 4, with hemolytic anemia familial hemolytic anemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012702 MONDO:0020573 False celiac disease, susceptibility to, 6 inherited disease susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -25636,7 +21957,11 @@ MONDO:0012708 MONDO:0018155 False primary lateral sclerosis, adult, 1 lateral sc MONDO:0012710 MONDO:0100179 False Hirschsprung disease, susceptibility to, 9 Hirschsprung disease, susceptibility to UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012711 MONDO:0003847 False peripapillary atrophy, beta type hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012712 MONDO:0003847 False dystonia with cerebellar atrophy hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012713 MONDO:0016763 False spondylometaphyseal dysplasia, East African type spondylometaphyseal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS +MONDO:0012714 MONDO:0016333 False early-onset myopathy with fatal cardiomyopathy familial dilated cardiomyopathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0012714 MONDO:0019056 False early-onset myopathy with fatal cardiomyopathy neuromuscular disease UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0012714 MONDO:0100493 False early-onset myopathy with fatal cardiomyopathy autosomal recessive titinopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012716 MONDO:0016761 False spondyloepiphyseal dysplasia, Cantu type spondyloepiphyseal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0012717 MONDO:0018101 False renal hypomagnesemia 4 familial primary hypomagnesemia with normocalciuria and normocalcemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012719 MONDO:0100517 False combined PSAP deficiency PSAP-related sphingolipidosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012720 MONDO:0015905 False Krabbe disease due to saposin A deficiency syndromic dyslipidemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -25646,27 +21971,41 @@ MONDO:0012721 MONDO:0015286 False progressive myoclonic epilepsy type 3 congenit MONDO:0012722 MONDO:0003847 False Dauwerse-Peters syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012723 MONDO:0022410 False Leber congenital amaurosis 10 retinal ciliopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012723 MONDO:0100451 False Leber congenital amaurosis 10 CEP290-related ciliopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012725 MONDO:0015905 False lipoprotein glomerulopathy syndromic dyslipidemia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012726 MONDO:0002254 False autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012726 MONDO:0003847 False autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012726 MONDO:0004995 False autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome cardiovascular disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012726 MONDO:0800461 False autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome COL4A1-related disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012727 MONDO:0002052 False mucocutaneous lymph node syndrome lymphadenitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0012727 MONDO:0003847 False mucocutaneous lymph node syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0012731 MONDO:0003689 False elliptocytosis 1 familial hemolytic anemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012731 MONDO:0017319 False elliptocytosis 1 hereditary elliptocytosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012732 MONDO:0003847 False tremor, hereditary essential, and idiopathic normal pressure hydrocephalus hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012732 MONDO:0700007 False tremor, hereditary essential, and idiopathic normal pressure hydrocephalus idiopathic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012733 MONDO:0003004 False autosomal recessive bestrophinopathy macular degeneration UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0012733 MONDO:0700239 False autosomal recessive bestrophinopathy BEST1-related recessive retinopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012734 MONDO:0009299 False SERKAL syndrome 46 XX gonadal dysgenesis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0012735 MONDO:0100485 False Temple-Baraitser syndrome KCNH1 associated disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012739 MONDO:0002254 False microtia-eye coloboma-imperforation of the nasolacrimal duct syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012739 MONDO:0024458 False microtia-eye coloboma-imperforation of the nasolacrimal duct syndrome disorder of visual system UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012740 MONDO:0018923 False chromosome 22q11.2 deletion syndrome, distal 22q11.2 deletion syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012741 MONDO:0023122 False prostate cancer, hereditary, 12 familial prostate carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0012747 MONDO:0003689 False glycogen storage disease due to aldolase A deficiency familial hemolytic anemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012747 MONDO:0017688 False glycogen storage disease due to aldolase A deficiency disorder of glycolysis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012747 MONDO:0020585 False glycogen storage disease due to aldolase A deficiency anemia due to erythrocyte enzyme disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012749 MONDO:0003847 False mesomelic dysplasia, camera type hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012750 MONDO:0015168 False lethal arthrogryposis-anterior horn cell disease syndrome arthrogryposis multiplex congenita UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0012756 MONDO:0016894 False proximal 16p11.2 microdeletion syndrome partial deletion of the short arm of chromosome 16 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012757 MONDO:0017015 False lung fibrosis-immunodeficiency-46,XX gonadal dysgenesis syndrome primary interstitial lung disease specific to childhood UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012757 MONDO:0044200 False lung fibrosis-immunodeficiency-46,XX gonadal dysgenesis syndrome T-B+ severe combined immunodeficiency UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012758 MONDO:0023122 False prostate cancer, hereditary, 13 familial prostate carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0012759 MONDO:0000111 False camptodactyly syndrome, Guadalajara type 3 camptodactyly syndrome, Guadalajara UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012759 MONDO:0015159 False camptodactyly syndrome, Guadalajara type 3 multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012759 MONDO:0018234 False camptodactyly syndrome, Guadalajara type 3 dysostosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012760 MONDO:0020573 False epilepsy, idiopathic generalized, susceptibility to, 5 inherited disease susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012761 MONDO:0016954 False chromosome 3q29 microduplication syndrome partial duplication of the long arm of chromosome 3 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012763 MONDO:0020573 False epilepsy, childhood absence, susceptibility to, 6 inherited disease susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012764 MONDO:0015244 False RIDDLE syndrome autosomal recessive cerebellar ataxia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS +MONDO:0012766 MONDO:0015149 False hereditary spastic paraplegia 37 pure hereditary spastic paraplegia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012768 MONDO:0023122 False prostate cancer, hereditary, 11 familial prostate carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0012769 MONDO:0023122 False prostate cancer, hereditary, 14 familial prostate carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0012770 MONDO:0023122 False prostate cancer, hereditary, 15 familial prostate carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING @@ -25674,6 +22013,8 @@ MONDO:0012771 MONDO:0010940 False asthma-related traits, susceptibility to, 7 in MONDO:0012772 MONDO:0003847 False Stevenson-Carey syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012773 MONDO:0003847 False Hunter-Macdonald syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012774 MONDO:0002320 False chromosome 15q13.3 microdeletion syndrome congenital nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0012774 MONDO:0015159 False chromosome 15q13.3 microdeletion syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012774 MONDO:0016913 False chromosome 15q13.3 microdeletion syndrome partial deletion of the long arm of chromosome 15 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012776 MONDO:0020573 False celiac disease, susceptibility to, 7 inherited disease susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012777 MONDO:0020573 False celiac disease, susceptibility to, 8 inherited disease susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012778 MONDO:0020573 False celiac disease, susceptibility to, 9 inherited disease susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -25681,32 +22022,54 @@ MONDO:0012779 MONDO:0020573 False celiac disease, susceptibility to, 10 inherite MONDO:0012780 MONDO:0020573 False celiac disease, susceptibility to, 11 inherited disease susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012781 MONDO:0020573 False celiac disease, susceptibility to, 12 inherited disease susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012782 MONDO:0020573 False celiac disease, susceptibility to, 13 inherited disease susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012783 MONDO:0015327 False RFT1-congenital disorder of glycosylation developmental anomaly of metabolic origin UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012783 MONDO:0017740 False RFT1-congenital disorder of glycosylation disorder of protein N-glycosylation UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012786 MONDO:0000426 False juvenile cataract-microcornea-renal glucosuria syndrome autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0012786 MONDO:0017706 False juvenile cataract-microcornea-renal glucosuria syndrome disorder of carbohydrate transmembrane transport and absorption UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012787 MONDO:0015150 False hereditary spastic paraplegia 39 complex hereditary spastic paraplegia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012787 MONDO:0015905 False hereditary spastic paraplegia 39 syndromic dyslipidemia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012787 MONDO:0018117 False hereditary spastic paraplegia 39 disorder of phospholipids, sphingolipids and fatty acids biosynthesis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012788 MONDO:0020573 False coronary heart disease, susceptibility to, 9 inherited disease susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012789 MONDO:0000478 False dystonia 16 multifocal dystonia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0012789 MONDO:0020065 False dystonia 16 combined dystonia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012789 MONDO:0021095 False dystonia 16 parkinsonian disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0012790 MONDO:0017161 False amyotrophic lateral sclerosis type 10 frontotemporal dementia with motor neuron disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0012791 MONDO:0002254 False mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0012791 MONDO:0016796 False mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria mitochondrial DNA depletion syndrome, encephalomyopathic form UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012792 MONDO:0016796 False mitochondrial DNA depletion syndrome 8a mitochondrial DNA depletion syndrome, encephalomyopathic form UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012793 MONDO:0009071 False hypouricemia, renal, 2 hereditary renal hypouricemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012794 MONDO:0002051 False ANE syndrome integumentary system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0012794 MONDO:0002254 False ANE syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0012794 MONDO:0015770 False ANE syndrome congenital hypogonadotropic hypogonadism UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012794 MONDO:0018762 False ANE syndrome non-acquired combined pituitary hormone deficiency UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012795 MONDO:0003847 False hypophosphatemic rickets and hyperparathyroidism hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012798 MONDO:0003847 False deafness, unilateral, with delayed endolymphatic hydrops hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012800 MONDO:0011114 False trichoepithelioma, multiple familial, 2 familial multiple trichoepithelioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012802 MONDO:0016073 False oculoauricular syndrome syndromic microphthalmia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS +MONDO:0012803 MONDO:0017706 False diarrhea-vomiting due to trehalase deficiency disorder of carbohydrate transmembrane transport and absorption UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012805 MONDO:0015427 False childhood onset GLUT1 deficiency syndrome 2 paroxysmal dyskinesia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012809 MONDO:0003847 False histiocytoma, Angiomatoid fibrous hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012809 MONDO:0005509 False histiocytoma, Angiomatoid fibrous histiocytoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012814 MONDO:0003847 False diastasis recti and weakness of the linea alba hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012815 MONDO:0020247 False Coats plus syndrome congenital vitreoretinal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012815 MONDO:0100137 False Coats plus syndrome telomere syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012817 MONDO:0003847 False Ewing sarcoma hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0012818 MONDO:0018911 False maturity-onset diabetes of the young type 9 maturity-onset diabetes of the young UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS MONDO:0012819 MONDO:0005015 False diabetic ketoacidosis diabetes mellitus UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0012820 MONDO:0020573 False colorectal cancer, susceptibility to, 3 inherited disease susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012821 MONDO:0020573 False colorectal cancer, susceptibility to, 5 inherited disease susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012822 MONDO:0020573 False colorectal cancer, susceptibility to, 6 inherited disease susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012823 MONDO:0020573 False colorectal cancer, susceptibility to, 7 inherited disease susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012820 MONDO:0015356 False colorectal cancer, susceptibility to, 3 hereditary neoplastic syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012821 MONDO:0015356 False colorectal cancer, susceptibility to, 5 hereditary neoplastic syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012822 MONDO:0015356 False colorectal cancer, susceptibility to, 6 hereditary neoplastic syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012823 MONDO:0015356 False colorectal cancer, susceptibility to, 7 hereditary neoplastic syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012824 MONDO:0017226 False hypomyelinating leukodystrophy 4 Pelizaeus-Merzbacher-like disease UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012826 MONDO:0020573 False scoliosis, isolated, susceptibility to, 4 inherited disease susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012827 MONDO:0020573 False scoliosis, isolated, susceptibility to, 5 inherited disease susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012830 MONDO:0016909 False chromosome 10q23 deletion syndrome partial monosomy of the long arm of chromosome 10 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012833 MONDO:0000426 False Crouzon syndrome-acanthosis nigricans syndrome autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0012833 MONDO:0015338 False Crouzon syndrome-acanthosis nigricans syndrome syndromic craniosynostosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012834 MONDO:0020573 False systemic lupus erythematosus, susceptibility to, 10 inherited disease susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012835 MONDO:0020573 False systemic lupus erythematosus, susceptibility to, 11 inherited disease susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012836 MONDO:0020573 False systemic lupus erythematosus, susceptibility to, 12 inherited disease susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012842 MONDO:0020573 False melanoma, cutaneous malignant, susceptibility to, 7 inherited disease susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012839 MONDO:0015979 False pyogenic bacterial infections due to MyD88 deficiency hereditary predisposition to infections UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012843 MONDO:0020573 False epilepsy, childhood absence, susceptibility to, 5 inherited disease susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012847 MONDO:0017778 False autosomal recessive congenital ichthyosis 6 lamellar ichthyosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012847 MONDO:0019306 False autosomal recessive congenital ichthyosis 6 congenital non-bullous ichthyosiform erythroderma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -25716,13 +22079,24 @@ MONDO:0012850 MONDO:0001343 False hypophosphatemic nephrolithiasis/osteoporosis MONDO:0012850 MONDO:0100191 False hypophosphatemic nephrolithiasis/osteoporosis 1 inherited kidney disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012851 MONDO:0001343 False hypophosphatemic nephrolithiasis/osteoporosis 2 impaired renal function disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012851 MONDO:0100191 False hypophosphatemic nephrolithiasis/osteoporosis 2 inherited kidney disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012853 MONDO:0015161 False Fontaine progeroid syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012853 MONDO:0019287 False Fontaine progeroid syndrome ectodermal dysplasia syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0012854 MONDO:0003847 False bilateral microtia-deafness-cleft palate syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012856 MONDO:0000426 False Birk-Barel syndrome autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0012857 MONDO:0019212 False porokeratosis 5, disseminated superficial actinic type disseminated superficial actinic porokeratosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012858 MONDO:0003689 False primary CD59 deficiency familial hemolytic anemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012858 MONDO:0020127 False primary CD59 deficiency hereditary peripheral neuropathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012859 MONDO:0005046 False autosomal recessive osteopetrosis 7 immune system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0012860 MONDO:0019145 False thrombophilia due to protein C deficiency, autosomal recessive hereditary thrombophilia due to congenital protein C deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0012862 MONDO:0020573 False attention deficit-hyperactivity disorder, susceptibility to, 5 inherited disease susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012863 MONDO:0020573 False attention deficit-hyperactivity disorder, susceptibility to, 6 inherited disease susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012864 MONDO:0016901 False chromosome 2q32-q33 deletion syndrome partial deletion of the long arm of chromosome 2 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012864 MONDO:0100147 False chromosome 2q32-q33 deletion syndrome SATB2 associated disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012865 MONDO:0003847 False Pseudofolliculitis barbae hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012867 MONDO:0015087 False hereditary spastic paraplegia 38 autosomal dominant complex spastic paraplegia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012868 MONDO:0000426 False thrombophilia due to protein S deficiency, autosomal dominant autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0012868 MONDO:0019144 False thrombophilia due to protein S deficiency, autosomal dominant hereditary thrombophilia due to congenital protein S deficiency UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0012869 MONDO:0015802 False intellectual disability, autosomal dominant 22 autosomal dominant non-syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0012870 MONDO:0016901 False chromosome 2q31.2 deletion syndrome partial deletion of the long arm of chromosome 2 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012871 MONDO:0013372 False Jervell and Lange-Nielsen syndrome 2 long QT syndrome 5 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0012873 MONDO:0007526 False Ehlers-Danlos syndrome, spondylocheirodysplastic type Ehlers-Danlos syndrome, spondylodysplastic type UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS @@ -25738,21 +22112,29 @@ MONDO:0012881 MONDO:0004985 False major affective disorder 7 bipolar disorder UN MONDO:0012882 MONDO:0003847 False major affective disorder 9 hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012882 MONDO:0004985 False major affective disorder 9 bipolar disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012884 MONDO:0020573 False systemic lupus erythematosus, susceptibility to, 13 inherited disease susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012885 MONDO:0017749 False SRD5A3-congenital disorder of glycosylation disorder of multiple glycosylation UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012888 MONDO:0020573 False sarcoidosis, susceptibility to, 2 inherited disease susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012889 MONDO:0020573 False sarcoidosis, susceptibility to, 3 inherited disease susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012890 MONDO:0016759 False pontocerebellar hypoplasia type 2B pontocerebellar hypoplasia type 2 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0012891 MONDO:0016759 False pontocerebellar hypoplasia type 2C pontocerebellar hypoplasia type 2 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0012892 MONDO:0019755 False bone fragility with contractures, arterial rupture, and deafness developmental defect during embryogenesis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012892 MONDO:0023603 False bone fragility with contractures, arterial rupture, and deafness hereditary disorder of connective tissue UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012893 MONDO:0020573 False osteoarthritis susceptibility 5 inherited disease susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012894 MONDO:0020573 False osteoarthritis susceptibility 6 inherited disease susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012895 MONDO:0015990 False torsion dystonia 17 focal, segmental or multifocal dystonia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012896 MONDO:0100171 False psoriasis 10, susceptibility to psoriasis, susceptibility to UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012897 MONDO:0000429 False congenital factor XI deficiency autosomal genetic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0012897 MONDO:0002243 False congenital factor XI deficiency hemorrhagic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0012897 MONDO:0009332 False congenital factor XI deficiency congenital hematological disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012897 MONDO:0020587 False congenital factor XI deficiency factor XI deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012897 MONDO:0021181 False congenital factor XI deficiency inherited blood coagulation disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012898 MONDO:0100049 False narcolepsy 4, susceptibility to narcolepsy, susceptibility to UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012899 MONDO:0005339 False alopecia, androgenetic, 3 androgenetic alopecia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012901 MONDO:0002242 False inherited prekallikrein deficiency coagulation protein disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012901 MONDO:0002243 False inherited prekallikrein deficiency hemorrhagic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012901 MONDO:0021181 False inherited prekallikrein deficiency inherited blood coagulation disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012901 MONDO:0044744 False inherited prekallikrein deficiency prekallikrein deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012905 MONDO:0800470 False hypomyelinating leukodystrophy 6 TUBB4A-related neurologic disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012907 MONDO:0005328 False blindness - scoliosis - arachnodactyly syndrome eye disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012907 MONDO:0019755 False blindness - scoliosis - arachnodactyly syndrome developmental defect during embryogenesis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012908 MONDO:0000015 False complement component 6 deficiency classic complement early component deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012908 MONDO:0015700 False complement component 6 deficiency immunodeficiency due to a late component of complement deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012909 MONDO:0003847 False skeletal defects, genital hypoplasia, and intellectual disability hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -25760,62 +22142,111 @@ MONDO:0012910 MONDO:0005562 False age-related hearing impairment 1 age-related h MONDO:0012910 MONDO:0037940 False age-related hearing impairment 1 inherited auditory system disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012911 MONDO:0018379 False pseudohypoparathyroidism type 1C primary avascular necrosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012911 MONDO:0018383 False pseudohypoparathyroidism type 1C osteonecrosis of genetic origin UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012911 MONDO:0019695 False pseudohypoparathyroidism type 1C acromelic dysplasia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012911 MONDO:0019992 False pseudohypoparathyroidism type 1C pseudohypoparathyroidism UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012911 MONDO:0800466 False pseudohypoparathyroidism type 1C disorder of GNAS inactivation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012912 MONDO:0019695 False pseudopseudohypoparathyroidism acromelic dysplasia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012912 MONDO:0019992 False pseudopseudohypoparathyroidism pseudohypoparathyroidism UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0012912 MONDO:0800466 False pseudopseudohypoparathyroidism disorder of GNAS inactivation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012913 MONDO:0008681 False Wilms tumor, aniridia, genitourinary anomalies, intellectual disability, and obesity syndrome WAGR syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0012914 MONDO:0022756 False chromosome 1q21.1 deletion syndrome chromosome 1q deletion UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012915 MONDO:0016952 False chromosome 1q21.1 duplication syndrome partial duplication of the long arm of chromosome 1 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012916 MONDO:0016884 False chromosome 2p16.1-p15 deletion syndrome partial deletion of the short arm of chromosome 2 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012919 MONDO:0010255 False type 1 diabetes mellitus 20 diabetes mellitus, insulin-dependent, X-linked, susceptibility to UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0012920 MONDO:0010255 False type 1 diabetes mellitus 21 diabetes mellitus, insulin-dependent, X-linked, susceptibility to UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0012921 MONDO:0010255 False type 1 diabetes mellitus 22 diabetes mellitus, insulin-dependent, X-linked, susceptibility to UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0012923 MONDO:0018883 False congenital generalized lipodystrophy type 3 Berardinelli-Seip congenital lipodystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012926 MONDO:0015048 False amelogenesis imperfecta hypomaturation type 2A2 amelogenesis imperfecta type 2 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012927 MONDO:0022756 False chromosome 1q41-q42 deletion syndrome chromosome 1q deletion UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012928 MONDO:0015149 False hereditary spastic paraplegia 42 pure hereditary spastic paraplegia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012929 MONDO:0019952 False Compton-North congenital myopathy congenital myopathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS +MONDO:0012930 MONDO:0028226 False autosomal recessive severe congenital neutropenia due to G6PC3 deficiency autosomal recessive severe congenital neutropenia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012931 MONDO:0020573 False focal segmental glomerulosclerosis 4, susceptibility to inherited disease susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012934 MONDO:0020573 False leukemia, chronic lymphocytic, susceptibility to, 3 inherited disease susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012935 MONDO:0020573 False leukemia, chronic lymphocytic, susceptibility to, 4 inherited disease susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012936 MONDO:0020573 False leukemia, chronic lymphocytic, susceptibility to, 5 inherited disease susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012934 MONDO:0015356 False leukemia, chronic lymphocytic, susceptibility to, 3 hereditary neoplastic syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012935 MONDO:0015356 False leukemia, chronic lymphocytic, susceptibility to, 4 hereditary neoplastic syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012936 MONDO:0015356 False leukemia, chronic lymphocytic, susceptibility to, 5 hereditary neoplastic syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012941 MONDO:0016542 False inflammatory bowel disease 25 immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012942 MONDO:0020573 False lung cancer susceptibility 3 inherited disease susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012942 MONDO:0015356 False lung cancer susceptibility 3 hereditary neoplastic syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012943 MONDO:0800393 False retinitis pigmentosa 46 IDH3B-related retinopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012944 MONDO:0018050 False chromosome 17P13.3, telomeric, duplication syndrome tibial aplasia-ectrodactyly syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012944 MONDO:0019713 False chromosome 17P13.3, telomeric, duplication syndrome non-syndromic limb reduction defect UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012948 MONDO:0011119 False chromosome 6pter-p24 deletion syndrome iridogoniodysgenesis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0012951 MONDO:0020573 False colorectal cancer, susceptibility to, 8 inherited disease susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012952 MONDO:0020573 False colorectal cancer, susceptibility to, 9 inherited disease susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012953 MONDO:0020573 False colorectal cancer, susceptibility to, 10 inherited disease susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012954 MONDO:0020573 False colorectal cancer, susceptibility to, 11 inherited disease susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012955 MONDO:0020573 False lung cancer susceptibility 4 inherited disease susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012948 MONDO:0015159 False chromosome 6pter-p24 deletion syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012948 MONDO:0016888 False chromosome 6pter-p24 deletion syndrome partial deletion of the short arm of chromosome 6 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012951 MONDO:0015356 False colorectal cancer, susceptibility to, 8 hereditary neoplastic syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012952 MONDO:0015356 False colorectal cancer, susceptibility to, 9 hereditary neoplastic syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012953 MONDO:0015356 False colorectal cancer, susceptibility to, 10 hereditary neoplastic syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012954 MONDO:0015356 False colorectal cancer, susceptibility to, 11 hereditary neoplastic syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012955 MONDO:0015356 False lung cancer susceptibility 4 hereditary neoplastic syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012959 MONDO:0100171 False psoriasis 11, susceptibility to psoriasis, susceptibility to UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012961 MONDO:0010255 False type 1 diabetes mellitus 23 diabetes mellitus, insulin-dependent, X-linked, susceptibility to UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0012964 MONDO:0016913 False chromosome 15q26-qter deletion syndrome partial deletion of the long arm of chromosome 15 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012967 MONDO:0003689 False hemolytic anemia due to adenylate kinase deficiency familial hemolytic anemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012968 MONDO:0010168 False Usher syndrome type 1H Usher syndrome type 1 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0012980 MONDO:0003847 False endocrine-cerebro-osteodysplasia syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0012980 MONDO:0005172 False endocrine-cerebro-osteodysplasia syndrome skeletal system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012980 MONDO:0043009 False endocrine-cerebro-osteodysplasia syndrome hereditary lethal multiple congenital anomalies/dysmorphic syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012981 MONDO:0019350 False hereditary spherocytosis type 4 hereditary spherocytosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0012982 MONDO:0019216 False episodic ataxia type 6 inborn disorder of amino acid transport UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012984 MONDO:0006025 False PHARC syndrome autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0012984 MONDO:0015905 False PHARC syndrome syndromic dyslipidemia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012984 MONDO:0018117 False PHARC syndrome disorder of phospholipids, sphingolipids and fatty acids biosynthesis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012984 MONDO:0020127 False PHARC syndrome hereditary peripheral neuropathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012985 MONDO:0019350 False hereditary spherocytosis type 5 hereditary spherocytosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0012986 MONDO:0003847 False bilateral parasagittal parieto-occipital polymicrogyria hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0012986 MONDO:0017091 False bilateral parasagittal parieto-occipital polymicrogyria bilateral polymicrogyria UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012987 MONDO:0011096 False agammaglobulinemia 6, autosomal recessive autosomal agammaglobulinemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012988 MONDO:0018800 False hypogonadotropic hypogonadism 6 with or without anosmia Kallmann syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0012990 MONDO:0800099 False Leber congenital amaurosis 13 RDH12-related recessive retinopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012991 MONDO:0006025 False Kahrizi syndrome autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0012992 MONDO:0001684 False pancreatic insufficiency-anemia-hyperostosis syndrome exocrine pancreatic insufficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012992 MONDO:0009068 False pancreatic insufficiency-anemia-hyperostosis syndrome cytochrome-c oxidase deficiency disease UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0012992 MONDO:0016387 False pancreatic insufficiency-anemia-hyperostosis syndrome mitochondrial oxidative phosphorylation disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012992 MONDO:0018230 False pancreatic insufficiency-anemia-hyperostosis syndrome skeletal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012992 MONDO:0019403 False pancreatic insufficiency-anemia-hyperostosis syndrome congenital dyserythropoietic anemia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0012994 MONDO:0016812 False dopa-responsive dystonia due to sepiapterin reductase deficiency dopa-responsive dystonia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012994 MONDO:0044807 False dopa-responsive dystonia due to sepiapterin reductase deficiency inherited dystonia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0012994 MONDO:0045014 False dopa-responsive dystonia due to sepiapterin reductase deficiency tetrahydrobiopterin metabolic process disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012996 MONDO:0045018 False AGAT deficiency creatine biosynthetic process disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012997 MONDO:0003847 False cholestasis-pigmentary retinopathy-cleft palate syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012998 MONDO:0003847 False faciocardiomelic syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012999 MONDO:0045018 False guanidinoacetate methyltransferase deficiency creatine biosynthetic process disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0013000 MONDO:0002520 False porphyria due to ALA dehydratase deficiency hepatic porphyria UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0013000 MONDO:0019142 False porphyria due to ALA dehydratase deficiency inherited porphyria UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013002 MONDO:0800398 False cone-rod dystrophy 9 ADAM9-related retinopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013003 MONDO:0001165 False isolated congenital hypoglossia/aglossia tongue disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013003 MONDO:0017139 False isolated congenital hypoglossia/aglossia oromandibular-limb hypogenesis syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013004 MONDO:0003847 False hypotonia, seizures, and precocious puberty hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0013005 MONDO:0015962 False EAST syndrome inherited renal tubular disease UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0013005 MONDO:0100309 False EAST syndrome hereditary ataxia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0013007 MONDO:0015695 False combined immunodeficiency due to ORAI1 deficiency combined immunodeficiency due to CRAC channel dysfunction UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0013008 MONDO:0015695 False combined immunodeficiency due to STIM1 deficiency combined immunodeficiency due to CRAC channel dysfunction UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013009 MONDO:0003847 False Megarbane-Jalkh syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013013 MONDO:0000107 False question mark ears, isolated auriculocondylar syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0013014 MONDO:0100510 False spondyloepimetaphyseal dysplasia, aggrecan type spondyloepimetaphyseal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0013016 MONDO:0017570 False leukocyte adhesion deficiency 3 leukocyte adhesion deficiency UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0013016 MONDO:0019026 False leukocyte adhesion deficiency 3 autosomal recessive osteopetrosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0013017 MONDO:0018631 False hypotrichosis 5 Marie Unna hereditary hypotrichosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0013018 MONDO:0000136 False keratosis follicularis spinulosa decalvans, autosomal dominant keratosis follicularis spinulosa decalvans UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0013020 MONDO:0100049 False narcolepsy 5, susceptibility to narcolepsy, susceptibility to UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0013021 MONDO:0005046 False sterile multifocal osteomyelitis with periostitis and pustulosis immune system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013021 MONDO:0023603 False sterile multifocal osteomyelitis with periostitis and pustulosis hereditary disorder of connective tissue UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013024 MONDO:0005149 False chronic thromboembolic pulmonary hypertension pulmonary hypertension UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0013025 MONDO:0016905 False chromosome 6q24-q25 deletion syndrome partial deletion of the long arm of chromosome 6 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0013026 MONDO:0000763 False subepithelial mucinous corneal dystrophy epithelial and subepithelial corneal dystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0013026 MONDO:0020212 False subepithelial mucinous corneal dystrophy superficial corneal dystrophy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0013027 MONDO:0020213 False posterior amorphous corneal dystrophy stromal corneal dystrophy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0013028 MONDO:0009637 False adenosine monophosphate deaminase deficiency inborn mitochondrial myopathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0013028 MONDO:0019236 False adenosine monophosphate deaminase deficiency inborn disorder of purine metabolism UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013032 MONDO:0020573 False epilepsy, idiopathic generalized, susceptibility to, 8 inherited disease susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013033 MONDO:0100500 False cerebral palsy, spastic quadriplegic, 2 Mendelian neurodevelopmental disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0013034 MONDO:0018865 False keratosis palmoplantaris striata 2 striate palmoplantar keratoderma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0013036 MONDO:0015159 False Zechi-Ceide syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013037 MONDO:0003847 False Giacheti syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013038 MONDO:0005073 False CLOVES syndrome melanocytic nevus UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0013038 MONDO:0019296 False CLOVES syndrome subcutaneous tissue disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013038 MONDO:0100118 False CLOVES syndrome hereditary skin disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0013038 MONDO:0700245 False CLOVES syndrome syndromic disorder of cell proliferation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013039 MONDO:0800063 False 3M syndrome 2 primordial dwarfism and slender bone disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013040 MONDO:0035290 False atypical hemolytic-uremic syndrome with MCP/CD46 anomaly atypical hemolytic uremic syndrome with complement gene abnormality UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013041 MONDO:0035290 False atypical hemolytic-uremic syndrome with I factor anomaly atypical hemolytic uremic syndrome with complement gene abnormality UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -25823,44 +22254,58 @@ MONDO:0013042 MONDO:0035290 False atypical hemolytic-uremic syndrome with B fact MONDO:0013043 MONDO:0035290 False atypical hemolytic-uremic syndrome with C3 anomaly atypical hemolytic uremic syndrome with complement gene abnormality UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013044 MONDO:0035290 False atypical hemolytic-uremic syndrome with thrombomodulin anomaly atypical hemolytic uremic syndrome with complement gene abnormality UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013045 MONDO:0000070 False mycobacterium tuberculosis, susceptibility to, 3 mycobacterium tuberculosis, susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0013046 MONDO:0002412 False glycogen storage disease due to muscle beta-enolase deficiency disorder of glycogen metabolism UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0013046 MONDO:0017688 False glycogen storage disease due to muscle beta-enolase deficiency disorder of glycolysis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0013047 MONDO:0002412 False glycogen storage disease due to lactate dehydrogenase M-subunit deficiency disorder of glycogen metabolism UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0013047 MONDO:0017688 False glycogen storage disease due to lactate dehydrogenase M-subunit deficiency disorder of glycolysis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0013049 MONDO:0017749 False DPM3-congenital disorder of glycosylation disorder of multiple glycosylation UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0013049 MONDO:0018276 False DPM3-congenital disorder of glycosylation muscular dystrophy-dystroglycanopathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013050 MONDO:0003847 False lethal polymalformative syndrome, Boissel type hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0013050 MONDO:0043009 False lethal polymalformative syndrome, Boissel type hereditary lethal multiple congenital anomalies/dysmorphic syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0013051 MONDO:0019573 False autosomal recessive cutis laxa type 2B autosomal recessive cutis laxa type 2 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013051 MONDO:0800064 False autosomal recessive cutis laxa type 2B osteogenesis imperfecta and a reduction of bone mineral density. UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013053 MONDO:0005267 False microcephaly-facio-cardio-skeletal syndrome, Hadziselimovic type heart disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0013053 MONDO:0015161 False microcephaly-facio-cardio-skeletal syndrome, Hadziselimovic type multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013054 MONDO:0003847 False microcephaly, growth retardation, cataract, hearing loss, and unusual appearance hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013055 MONDO:0003847 False Stargardt macular degeneration, absent or hypoplastic corpus callosum, intellectual disability, and dysmorphic features hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0013056 MONDO:0016801 False developmental and epileptic encephalopathy, 39 mitochondrial substrate carrier disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013056 MONDO:0100455 False developmental and epileptic encephalopathy, 39 neonatal-onset developmental and epileptic encephalopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013057 MONDO:0100171 False psoriasis 12, susceptibility to psoriasis, susceptibility to UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0013058 MONDO:0019046 False cystic leukoencephalopathy without megalencephaly leukodystrophy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS +MONDO:0013060 MONDO:0008199 False autosomal recessive Parkinson disease 14 late-onset Parkinson disease UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS +MONDO:0013060 MONDO:0017998 False autosomal recessive Parkinson disease 14 PLA2G6-associated neurodegeneration UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013063 MONDO:0003847 False ventricular fibrillation, paroxysmal familial, 2 hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013063 MONDO:0100234 False ventricular fibrillation, paroxysmal familial, 2 paroxysmal familial ventricular fibrillation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013066 MONDO:0016674 False 46,XY sex reversal 3 46,XY partial gonadal dysgenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013068 MONDO:0005562 False age-related hearing impairment 2 age-related hearing impairment UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013068 MONDO:0037940 False age-related hearing impairment 2 inherited auditory system disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0013069 MONDO:0016387 False autosomal recessive optic atrophy, OPA7 type mitochondrial oxidative phosphorylation disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013071 MONDO:0020336 False Emery-Dreifuss muscular dystrophy 4, autosomal dominant autosomal dominant Emery-Dreifuss muscular dystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013072 MONDO:0020336 False Emery-Dreifuss muscular dystrophy 5, autosomal dominant autosomal dominant Emery-Dreifuss muscular dystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013073 MONDO:0017672 False palmoplantar keratoderma, nonepidermolytic, focal 1 focal palmoplantar keratoderma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0013074 MONDO:0019296 False encephalocraniocutaneous lipomatosis subcutaneous tissue disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013074 MONDO:0021440 False encephalocraniocutaneous lipomatosis benign neoplasm of skin UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013074 MONDO:0023603 False encephalocraniocutaneous lipomatosis hereditary disorder of connective tissue UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013074 MONDO:0100118 False encephalocraniocutaneous lipomatosis hereditary skin disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013076 MONDO:0020573 False attention deficit-hyperactivity disorder, susceptibility to, 7 inherited disease susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013077 MONDO:0003847 False Santos syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013078 MONDO:0010255 False type 1 diabetes mellitus 24 diabetes mellitus, insulin-dependent, X-linked, susceptibility to UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING -MONDO:0013081 MONDO:0021094 False lymphoproliferative syndrome 1 immunodeficiency disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0013082 MONDO:0002254 False Hirschsprung disease-ganglioneuroblastoma syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013082 MONDO:0021189 False Hirschsprung disease-ganglioneuroblastoma syndrome intestinal motility disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013083 MONDO:0020573 False neuroblastoma, susceptibility to, 3 inherited disease susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013084 MONDO:0020573 False neuroblastoma, susceptibility to, 4 inherited disease susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013085 MONDO:0020573 False neuroblastoma, susceptibility to, 5 inherited disease susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013086 MONDO:0020573 False neuroblastoma, susceptibility to, 6 inherited disease susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0013083 MONDO:0015356 False neuroblastoma, susceptibility to, 3 hereditary neoplastic syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0013084 MONDO:0015356 False neuroblastoma, susceptibility to, 4 hereditary neoplastic syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0013085 MONDO:0015356 False neuroblastoma, susceptibility to, 5 hereditary neoplastic syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0013086 MONDO:0015356 False neuroblastoma, susceptibility to, 6 hereditary neoplastic syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013087 MONDO:0018956 False bronchiectasis with or without elevated sweat chloride 2 idiopathic bronchiectasis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013088 MONDO:0020573 False follicular lymphoma, susceptibility to, 1 inherited disease susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0013088 MONDO:0015356 False follicular lymphoma, susceptibility to, 1 hereditary neoplastic syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013089 MONDO:0100182 False schizophrenia 13 schizophrenia, susceptibility to UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0013090 MONDO:0015159 False chromosome 19q13.11 deletion syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0013090 MONDO:0016917 False chromosome 19q13.11 deletion syndrome partial deletion of the long arm of chromosome 19 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013091 MONDO:0020693 False glycogen storage disease IXc glycogen storage disease due to liver phosphorylase kinase deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013098 MONDO:0005365 False noise induced hearing loss hearing loss disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013098 MONDO:0037940 False noise induced hearing loss inherited auditory system disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013099 MONDO:0002320 False combined pituitary hormone deficiencies, genetic form congenital nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013099 MONDO:0005152 False combined pituitary hormone deficiencies, genetic form hypopituitarism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0013099 MONDO:0015770 False combined pituitary hormone deficiencies, genetic form congenital hypogonadotropic hypogonadism UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013101 MONDO:0100047 False basal cell carcinoma, susceptibility to, 2 basal cell carcinoma, susceptibility to UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013102 MONDO:0100047 False basal cell carcinoma, susceptibility to, 3 basal cell carcinoma, susceptibility to UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013103 MONDO:0020573 False epilepsy, idiopathic generalized, susceptibility to, 10 inherited disease susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -25868,28 +22313,46 @@ MONDO:0013104 MONDO:0100047 False basal cell carcinoma, susceptibility to, 4 bas MONDO:0013105 MONDO:0100047 False basal cell carcinoma, susceptibility to, 5 basal cell carcinoma, susceptibility to UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013106 MONDO:0100047 False basal cell carcinoma, susceptibility to, 6 basal cell carcinoma, susceptibility to UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013107 MONDO:0100178 False dermatitis, atopic, 7 dermatitis, atopic, susceptibility to UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013108 MONDO:0020573 False leukemia, acute lymphocytic, susceptibility to, 1 inherited disease susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013109 MONDO:0020573 False leukemia, acute lymphocytic, susceptibility to, 2 inherited disease susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0013108 MONDO:0015356 False leukemia, acute lymphocytic, susceptibility to, 1 hereditary neoplastic syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0013108 MONDO:0020683 False leukemia, acute lymphocytic, susceptibility to, 1 acute disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0013109 MONDO:0015356 False leukemia, acute lymphocytic, susceptibility to, 2 hereditary neoplastic syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0013109 MONDO:0020683 False leukemia, acute lymphocytic, susceptibility to, 2 acute disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0013110 MONDO:0005528 False neurodegenerative syndrome due to cerebral folate transport deficiency inborn vitamin metabolic disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0013110 MONDO:0017313 False neurodegenerative syndrome due to cerebral folate transport deficiency disorder of folate metabolism and transport UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0013110 MONDO:0024237 False neurodegenerative syndrome due to cerebral folate transport deficiency inherited neurodegenerative disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013111 MONDO:0000023 False acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins infantile liver failure UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS +MONDO:0013111 MONDO:0016387 False acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins mitochondrial oxidative phosphorylation disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013111 MONDO:0019542 False acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins acute liver failure UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013112 MONDO:0018956 False bronchiectasis with or without elevated sweat chloride 3 idiopathic bronchiectasis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013113 MONDO:0015177 False metaphyseal anadysplasia 2 metaphyseal anadysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013115 MONDO:0100237 False RIN2 syndrome inherited cutis laxa UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0013116 MONDO:0009637 False congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome inborn mitochondrial myopathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0013116 MONDO:0016387 False congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome mitochondrial oxidative phosphorylation disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013117 MONDO:0008003 False progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5 autosomal dominant progressive external ophthalmoplegia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0013118 MONDO:0015161 False Nijmegen breakage syndrome-like disorder multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013118 MONDO:0015327 False Nijmegen breakage syndrome-like disorder developmental anomaly of metabolic origin UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013118 MONDO:0021190 False Nijmegen breakage syndrome-like disorder DNA repair disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013121 MONDO:0000365 False glaucoma 3, primary congenital, C primary congenital glaucoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013122 MONDO:0000365 False glaucoma 3, primary congenital, D primary congenital glaucoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013122 MONDO:0100236 False glaucoma 3, primary congenital, D LTBP2-related ocular dysgenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013124 MONDO:0020573 False pelvic organ prolapse, susceptibility to, 2 inherited disease susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0013125 MONDO:0019716 False CLAPO syndrome overgrowth syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0013128 MONDO:0015962 False familial juvenile hyperuricemic nephropathy type 2 inherited renal tubular disease UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013129 MONDO:0000455 False cone dystrophy 4 cone dystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013130 MONDO:0016764 False isolated microphthalmia 4 isolated anophthalmia-microphthalmia syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013133 MONDO:0020573 False melanoma, cutaneous malignant, susceptibility to, 5 inherited disease susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0013132 MONDO:0015087 False hereditary spastic paraplegia 36 autosomal dominant complex spastic paraplegia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013134 MONDO:0005338 False glaucoma 1, open angle, O open-angle glaucoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013134 MONDO:0018174 False glaucoma 1, open angle, O hereditary glaucoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0013136 MONDO:0004907 False hereditary hypotrichosis with recurrent skin vesicles alopecia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013138 MONDO:0004900 False vertigo, benign recurrent, 2 peripheral vertigo UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0013139 MONDO:0008742 False neutropenia, severe congenital, 2, autosomal dominant autosomal dominant severe congenital neutropenia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0013142 MONDO:0019941 False neuropathy, hereditary sensory and autonomic, type 2B hereditary sensory and autonomic neuropathy type 2 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0013143 MONDO:0018374 False hereditary thrombophilia due to congenital histidine-rich (poly-L) glycoprotein deficiency secondary avascular necrosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0013143 MONDO:0018383 False hereditary thrombophilia due to congenital histidine-rich (poly-L) glycoprotein deficiency osteonecrosis of genetic origin UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0013144 MONDO:0018374 False hereditary antithrombin deficiency secondary avascular necrosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0013144 MONDO:0018383 False hereditary antithrombin deficiency osteonecrosis of genetic origin UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013149 MONDO:0003847 False hydrops fetalis, nonimmune, with gracile bones and dysmorphic features hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013150 MONDO:0002254 False parkinsonism-dystonia, infantile syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0013150 MONDO:0020065 False parkinsonism-dystonia, infantile combined dystonia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013150 MONDO:0021095 False parkinsonism-dystonia, infantile parkinsonian disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013152 MONDO:0020573 False systemic lupus erythematosus, susceptibility to, 14 inherited disease susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013153 MONDO:0016542 False inflammatory bowel disease 28 immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -25897,17 +22360,31 @@ MONDO:0013154 MONDO:0018939 False muscular dystrophy-dystroglycanopathy (congeni MONDO:0013154 MONDO:0700071 False muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 myopathy caused by variation in POMT2 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013155 MONDO:0700068 False muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 myopathy caused by variation in POMGNT1 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013156 MONDO:0700067 False muscular dystrophy-dystroglycanopathy (congenital without intellectual disability), type B4 myopathy caused by variation in FKTN UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0013157 MONDO:0016156 False muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5 qualitative or quantitative defects of FKRP UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013157 MONDO:0018939 False muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5 muscle-eye-brain disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013157 MONDO:0700066 False muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5 myopathy caused by variation in FKRP UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013158 MONDO:0018939 False muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A6 muscle-eye-brain disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013159 MONDO:0700070 False muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1 myopathy caused by variation in POMT1 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013160 MONDO:0700071 False muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2 myopathy caused by variation in POMT2 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013161 MONDO:0700068 False autosomal recessive limb-girdle muscular dystrophy type 2O myopathy caused by variation in POMGNT1 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0013162 MONDO:0016185 False autosomal recessive limb-girdle muscular dystrophy type 2N qualitative or quantitative defects of protein O-mannosyltransferase 2 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013162 MONDO:0700071 False autosomal recessive limb-girdle muscular dystrophy type 2N myopathy caused by variation in POMT2 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0013164 MONDO:0019238 False beta-ureidopropionase deficiency inborn disorder of pyrimidine metabolism UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013165 MONDO:0015150 False hereditary spastic paraplegia 45 complex hereditary spastic paraplegia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0013166 MONDO:0000698 False GABA aminotransaminase deficiency gamma-amino butyric acid metabolism disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0013166 MONDO:0017684 False GABA aminotransaminase deficiency disorder of beta and omega amino acid metabolism UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0013169 MONDO:0015159 False chromosome 5p13 duplication syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0013169 MONDO:0016942 False chromosome 5p13 duplication syndrome partial trisomy/tetrasomy of the short arm of chromosome 5 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0013170 MONDO:0006025 False cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0013171 MONDO:0019236 False purine nucleoside phosphorylase deficiency inborn disorder of purine metabolism UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013172 MONDO:0000904 False polymicrogyria with optic nerve hypoplasia complex cortical dysplasia with other brain malformations UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0013177 MONDO:0019950 False congenital muscular dystrophy due to integrin alpha-7 deficiency congenital muscular dystrophy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0013178 MONDO:0019950 False congenital muscular dystrophy due to LMNA mutation congenital muscular dystrophy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0013179 MONDO:0015150 False hereditary spastic paraplegia 44 complex hereditary spastic paraplegia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013180 MONDO:0010940 False asthma-related traits, susceptibility to, 8 inherited susceptibility to asthma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0013181 MONDO:0015048 False amelogenesis imperfecta hypomaturation type 2A3 amelogenesis imperfecta type 2 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0013182 MONDO:0015159 False chromosome 17p13.3 duplication syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0013182 MONDO:0016950 False chromosome 17p13.3 duplication syndrome partial duplication of the short arm of chromosome 17 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013183 MONDO:0800402 False congenital stationary night blindness 1C TRPM1-related retinopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013184 MONDO:0045032 False congenital diarrhea 5 with tufting enteropathy congenital secretory diarrhea UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013185 MONDO:0015979 False leprosy, susceptibility to, 5 hereditary predisposition to infections UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -25920,101 +22397,178 @@ MONDO:0013193 MONDO:0020573 False thyrotoxic periodic paralysis, susceptibility MONDO:0013194 MONDO:0003847 False Pseudopili annulati hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013201 MONDO:0019518 False Waardenburg syndrome type 4B Waardenburg-Shah syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013202 MONDO:0019518 False Waardenburg syndrome type 4C Waardenburg-Shah syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0013208 MONDO:0017766 False cirrhosis - dystonia - polycythemia - hypermanganesemia syndrome disorder of manganese transport UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013208 MONDO:0021095 False cirrhosis - dystonia - polycythemia - hypermanganesemia syndrome parkinsonian disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0013209 MONDO:0004790 False metabolic dysfunction-associated steatotic liver disease fatty liver disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0013212 MONDO:0018993 False Charcot-Marie-Tooth disease axonal type 2N Charcot-Marie-Tooth disease type 2 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0013213 MONDO:0020573 False hearing loss, cisplatin-induced, susceptibility to inherited disease susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013214 MONDO:0003847 False bile acid malabsorption, primary, 1 hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013218 MONDO:0100484 False exudative vitreoretinopathy 5 TSPAN12-related vitreoretinopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0013218 MONDO:0700231 False exudative vitreoretinopathy 5 TSPAN12-related exudative vitreoretinopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013219 MONDO:0017324 False hypophosphatemic rickets, autosomal recessive, 2 autosomal recessive hypophosphatemic rickets UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013219 MONDO:0800096 False hypophosphatemic rickets, autosomal recessive, 2 abnormal mineralization disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0013220 MONDO:0019257 False hemochromatosis type 2B hemochromatosis type 2 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0013223 MONDO:0800080 False autosomal recessive spondylometaphyseal dysplasia, Megarbane type severe spondylodysplastic dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013224 MONDO:0020560 False rhabdoid tumor predisposition syndrome 2 atypical teratoid rhabdoid tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0013226 MONDO:0003778 False combined immunodeficiency with faciooculoskeletal anomalies inborn error of immunity UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013226 MONDO:0015131 False combined immunodeficiency with faciooculoskeletal anomalies combined immunodeficiency UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013226 MONDO:0015160 False combined immunodeficiency with faciooculoskeletal anomalies multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013227 MONDO:0002242 False congenital plasminogen activator inhibitor type 1 deficiency coagulation protein disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013227 MONDO:0002243 False congenital plasminogen activator inhibitor type 1 deficiency hemorrhagic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013227 MONDO:0009332 False congenital plasminogen activator inhibitor type 1 deficiency congenital hematological disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0013227 MONDO:0021181 False congenital plasminogen activator inhibitor type 1 deficiency inherited blood coagulation disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013228 MONDO:0016761 False spondylo-megaepiphyseal-metaphyseal dysplasia spondyloepiphyseal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013229 MONDO:0023224 False hot water reflex epilepsy inherited reflex epilepsy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013232 MONDO:0016761 False brachydactylous dwarfism, Mseleni type spondyloepiphyseal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013233 MONDO:0100510 False spondyloepimetaphyseal dysplasia, Handigodu type spondyloepimetaphyseal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013234 MONDO:0008223 False hypokalemic periodic paralysis, type 2 hypokalemic periodic paralysis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013235 MONDO:0020573 False pancreatic cancer, susceptibility to, 2 inherited disease susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013236 MONDO:0020573 False pancreatic cancer, susceptibility to, 3 inherited disease susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0013234 MONDO:0800468 False hypokalemic periodic paralysis, type 2 SCN4A-related channelopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0013235 MONDO:0015356 False pancreatic cancer, susceptibility to, 2 hereditary neoplastic syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0013236 MONDO:0015356 False pancreatic cancer, susceptibility to, 3 hereditary neoplastic syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013237 MONDO:0020573 False susceptibility to mononeuropathy of the median nerve, mild inherited disease susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0013238 MONDO:0016915 False chromosome 17q23.1-q23.2 deletion syndrome partial deletion of the long arm of chromosome 17 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0013239 MONDO:0015149 False hereditary spastic paraplegia 41 pure hereditary spastic paraplegia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0013240 MONDO:0018911 False maturity-onset diabetes of the young type 10 maturity-onset diabetes of the young UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS +MONDO:0013241 MONDO:0019793 False spinocerebellar ataxia type 30 autosomal dominant cerebellar ataxia type III UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0013242 MONDO:0018911 False maturity-onset diabetes of the young type 11 maturity-onset diabetes of the young UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS +MONDO:0013243 MONDO:0015352 False neuronopathy, distal hereditary motor, type 2C distal hereditary motor neuropathy type 2 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0013244 MONDO:0019677 False brachydactyly type E2 brachydactyly type E UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013245 MONDO:0003847 False syndromic multisystem autoimmune disease due to ITCH deficiency hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0013245 MONDO:0015159 False syndromic multisystem autoimmune disease due to ITCH deficiency multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013246 MONDO:0020573 False fatty liver disease, nonalcoholic, susceptibility to, 2 inherited disease susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013247 MONDO:0007600 False Fanconi renotubular syndrome 2 primary Fanconi syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013251 MONDO:0003847 False Birbeck granule deficiency hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0013252 MONDO:0015161 False Warsaw breakage syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013254 MONDO:0001149 False microcephaly, seizures, and developmental delay microcephaly UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0013256 MONDO:0003847 False chromosome 15q24 deletion syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0013256 MONDO:0015159 False chromosome 15q24 deletion syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0013256 MONDO:0016913 False chromosome 15q24 deletion syndrome partial deletion of the long arm of chromosome 15 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013257 MONDO:0015979 False leprosy, susceptibility to, 6 hereditary predisposition to infections UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013259 MONDO:0019152 False Oguchi disease-2 Oguchi disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013260 MONDO:0003847 False esophagitis, eosinophilic, 2 hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013260 MONDO:0005361 False esophagitis, eosinophilic, 2 eosinophilic esophagitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013263 MONDO:0800404 False retinitis pigmentosa 54 PCARE-related retinopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0013266 MONDO:0015802 False intellectual disability, autosomal dominant 20 autosomal dominant non-syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0013267 MONDO:0016894 False distal 16p11.2 microdeletion syndrome partial deletion of the short arm of chromosome 16 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0013268 MONDO:0002051 False frontonasal dysplasia with alopecia and genital anomaly integumentary system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0013270 MONDO:0002320 False Rett syndrome, congenital variant congenital nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013270 MONDO:0017746 False Rett syndrome, congenital variant atypical Rett syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013270 MONDO:0100040 False Rett syndrome, congenital variant FOXG1 disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0013272 MONDO:0016912 False chromosome 14q11-q22 deletion syndrome partial deletion of the long arm of chromosome 14 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0013273 MONDO:0016949 False chromosome 16p13.3 duplication syndrome partial duplication of the short arm of chromosome 16 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013275 MONDO:0006506 False hemolytic anemia due to glucophosphate isomerase deficiency congenital nonspherocytic hemolytic anemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0013275 MONDO:0017688 False hemolytic anemia due to glucophosphate isomerase deficiency disorder of glycolysis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013275 MONDO:0020585 False hemolytic anemia due to glucophosphate isomerase deficiency anemia due to erythrocyte enzyme disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013276 MONDO:0003847 False Reynolds syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013276 MONDO:0007179 False Reynolds syndrome autoimmune disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0013277 MONDO:0018097 False developmental and epileptic encephalopathy, 5 West syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0013280 MONDO:0020561 False myxoid liposarcoma myxoid/round cell liposarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013280 MONDO:0023603 False myxoid liposarcoma hereditary disorder of connective tissue UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013282 MONDO:0002254 False alpha 1-antitrypsin deficiency syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0013281 MONDO:0017750 False COG4-congenital disorder of glycosylation defect in conserved oligomeric Golgi complex UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0013282 MONDO:0002273 False alpha 1-antitrypsin deficiency plasma protein metabolism disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0013282 MONDO:0005087 False alpha 1-antitrypsin deficiency respiratory system disorder UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0013287 MONDO:0011096 False agammaglobulinemia 2, autosomal recessive autosomal agammaglobulinemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013288 MONDO:0011096 False agammaglobulinemia 3, autosomal recessive autosomal agammaglobulinemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013289 MONDO:0011096 False agammaglobulinemia 4, autosomal recessive autosomal agammaglobulinemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013290 MONDO:0011096 False agammaglobulinemia 5, autosomal dominant autosomal agammaglobulinemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013291 MONDO:0100314 False glycogen storage disease XV GYG1-related disorder of glycogen metabolism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0013292 MONDO:0016903 False chromosome 4q21 deletion syndrome partial deletion of the long arm of chromosome 4 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013293 MONDO:0016764 False isolated microphthalmia 6 isolated anophthalmia-microphthalmia syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013294 MONDO:0100178 False dermatitis, atopic, 8 dermatitis, atopic, susceptibility to UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013295 MONDO:0100178 False dermatitis, atopic, 9 dermatitis, atopic, susceptibility to UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0013298 MONDO:0015159 False chromosome 17q21.31 duplication syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0013298 MONDO:0016967 False chromosome 17q21.31 duplication syndrome partial duplication of the long arm of chromosome 17 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013299 MONDO:0016905 False chromosome 6q11-q14 deletion syndrome partial deletion of the long arm of chromosome 6 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0013300 MONDO:0015411 False commissural facial cleft facial cleft UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0013301 MONDO:0019852 False aromatase deficiency inherited primary ovarian failure UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0013301 MONDO:0024575 False aromatase deficiency pregnancy disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013302 MONDO:0019394 False nephronophthisis 11 Senior-Boichis syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013303 MONDO:0020573 False autoimmune disease, susceptibility to, 6 inherited disease susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0013304 MONDO:0019565 False von Willebrand disease 2 hereditary von Willebrand disease UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0013308 MONDO:0021060 False CBL-related disorder RASopathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013309 MONDO:0016884 False chromosome 2p12-p11.2 deletion syndrome partial deletion of the short arm of chromosome 2 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0013310 MONDO:0005039 False congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency reproductive system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0013311 MONDO:0019287 False ectodermal dysplasia-syndactyly syndrome ectodermal dysplasia syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0013314 MONDO:0700241 False retinitis pigmentosa 56 IMPG2-related recessive retinopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0013316 MONDO:0003004 False occult macular dystrophy macular degeneration UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0013316 MONDO:0020242 False occult macular dystrophy hereditary macular dystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013317 MONDO:0007263 False torsade-de-pointes syndrome with short coupling interval cardiac rhythm disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013318 MONDO:0003847 False early repolarization associated with ventricular fibrillation hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013319 MONDO:0003847 False chromosome 4Q32.1-q32.2 triplication syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013319 MONDO:0016955 False chromosome 4Q32.1-q32.2 triplication syndrome partial duplication of the long arm of chromosome 4 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0013320 MONDO:0016894 False chromosome 16p12.2-p11.2 deletion syndrome partial deletion of the short arm of chromosome 16 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013321 MONDO:0003847 False forsythe-wakeling syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0013324 MONDO:0002013 False lymphedema-posterior choanal atresia syndrome lymphangioma UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013324 MONDO:0003847 False lymphedema-posterior choanal atresia syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013325 MONDO:0002254 False COG5-congenital disorder of glycosylation syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0013325 MONDO:0017750 False COG5-congenital disorder of glycosylation defect in conserved oligomeric Golgi complex UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0013329 MONDO:0016046 False familial clubfoot due to 17q23.1q23.2 microduplication familial clubfoot with or without associated lower limb anomalies UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0013329 MONDO:0016967 False familial clubfoot due to 17q23.1q23.2 microduplication partial duplication of the long arm of chromosome 17 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013330 MONDO:0003847 False agenesis of the corpus callosum and congenital lymphedema hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013331 MONDO:0018175 False factor 5 and Factor VIII, combined deficiency of, 2 combined deficiency of factor V and factor VIII UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013331 MONDO:0021181 False factor 5 and Factor VIII, combined deficiency of, 2 inherited blood coagulation disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013332 MONDO:0003847 False brachydactyly, type A1, with short stature, scoliosis, microcephaly, ptosis, hearing loss, and intellectual disability hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013333 MONDO:0003847 False odontoid hypoplasia hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013333 MONDO:0005497 False odontoid hypoplasia bone development disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0013334 MONDO:0003847 False cocoon syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0013334 MONDO:0019054 False cocoon syndrome congenital limb malformation UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013335 MONDO:0003847 False tuberculin skin test reactivity, absence of hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0013336 MONDO:0015159 False chromosome 19p13.13 deletion syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0013336 MONDO:0016897 False chromosome 19p13.13 deletion syndrome partial deletion of the short arm of chromosome 19 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0013337 MONDO:0018213 False neuropathy, hereditary sensory and autonomic, type 1C hereditary sensory and autonomic neuropathy type 1 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0013338 MONDO:0017058 False Charcot-Marie-Tooth disease recessive intermediate B autosomal recessive intermediate Charcot-Marie-Tooth disease UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013340 MONDO:0020573 False Parkinson disease 5, autosomal dominant, susceptibility to inherited disease susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0013341 MONDO:0002012 False methylmalonic acidemia due to transcobalamin receptor defect methylmalonic acidemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0013341 MONDO:0019220 False methylmalonic acidemia due to transcobalamin receptor defect inborn disorder of cobalamin metabolism and transport UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0013342 MONDO:0002561 False hereditary spastic paraplegia 48 lysosomal storage disease UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0013343 MONDO:0015699 False C1Q deficiency immunodeficiency due to a classical component pathway complement deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0013349 MONDO:0017740 False ALG11-congenital disorder of glycosylation disorder of protein N-glycosylation UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0013351 MONDO:0002602 False infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly central nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0013351 MONDO:0003847 False infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0013352 MONDO:0000508 False intellectual disability-severe speech delay-mild dysmorphism syndrome syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0013352 MONDO:0003847 False intellectual disability-severe speech delay-mild dysmorphism syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0013353 MONDO:0003847 False intellectual disability, anterior maxillary protrusion, and strabismus hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0013354 MONDO:0016387 False spastic ataxia 4 mitochondrial oxidative phosphorylation disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0013354 MONDO:0017847 False spastic ataxia 4 autosomal recessive spastic ataxia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013355 MONDO:0000577 False congenital dyserythropoietic anemia type 4 congenital anemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0013357 MONDO:0016915 False chromosome 17q11.2 deletion syndrome, 1.4Mb partial deletion of the long arm of chromosome 17 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0013357 MONDO:0018975 False chromosome 17q11.2 deletion syndrome, 1.4Mb neurofibromatosis type 1 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS MONDO:0013358 MONDO:0700054 False Seckel syndrome 4 microcephaly 6 with or without short stature UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0013360 MONDO:0015262 False brachyolmia, Maroteaux type brachyolmia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0013361 MONDO:0006025 False congenital prothrombin deficiency autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0013361 MONDO:0015722 False congenital prothrombin deficiency congenital vitamin K-dependent coagulation factors deficiency UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS MONDO:0013361 MONDO:0024307 False congenital prothrombin deficiency prothrombin deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013362 MONDO:0003847 False THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0013362 MONDO:0015159 False THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013363 MONDO:0007977 False chromosome 2q31.1 duplication syndrome mesomelic dysplasia, Kantaputra type UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0013363 MONDO:0016953 False chromosome 2q31.1 duplication syndrome partial duplication of the long arm of chromosome 2 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013366 MONDO:0010180 False spondylocostal dysostosis 4, autosomal recessive autosomal recessive spondylocostal dysostosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013368 MONDO:0002263 False mammary-digital-nail syndrome female reproductive system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013368 MONDO:0003847 False mammary-digital-nail syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0013368 MONDO:0018234 False mammary-digital-nail syndrome dysostosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0013368 MONDO:0019054 False mammary-digital-nail syndrome congenital limb malformation UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013374 MONDO:0003847 False supernumerary der(22)t(8;22) syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013377 MONDO:0016764 False isolated microphthalmia 7 isolated anophthalmia-microphthalmia syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013378 MONDO:0016044 False orofacial cleft 10 cleft lip/palate UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0013381 MONDO:0018213 False neuropathy, hereditary sensory, type 1D hereditary sensory and autonomic neuropathy type 1 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0013382 MONDO:0020127 False progressive demyelinating neuropathy with bilateral striatal necrosis hereditary peripheral neuropathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013383 MONDO:0100179 False Hirschsprung disease, susceptibility to, 3 Hirschsprung disease, susceptibility to UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013384 MONDO:0100179 False Hirschsprung disease, susceptibility to, 4 Hirschsprung disease, susceptibility to UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013389 MONDO:0017385 False developmental and epileptic encephalopathy, 12 malignant migrating partial seizures of infancy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013389 MONDO:0018097 False developmental and epileptic encephalopathy, 12 West syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0013389 MONDO:0100455 False developmental and epileptic encephalopathy, 12 neonatal-onset developmental and epileptic encephalopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0013390 MONDO:0016198 False autosomal recessive limb-girdle muscular dystrophy type 2Q qualitative or quantitative defects of plectin UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0013391 MONDO:0019046 False sterol carrier protein 2 deficiency leukodystrophy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0013391 MONDO:0019233 False sterol carrier protein 2 deficiency disorder of peroxisomal beta oxidation UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0013393 MONDO:0016906 False distal 7q11.23 microdeletion syndrome partial deletion of the long arm of chromosome 7 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013394 MONDO:0003847 False porencephaly-microcephaly-bilateral congenital cataract syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013394 MONDO:0021147 False porencephaly-microcephaly-bilateral congenital cataract syndrome disorder of development or morphogenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0013396 MONDO:0003847 False chromosome 1p32-p31 deletion syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0013396 MONDO:0015160 False chromosome 1p32-p31 deletion syndrome multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0013396 MONDO:0016883 False chromosome 1p32-p31 deletion syndrome partial deletion of the short arm of chromosome 1 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0013400 MONDO:0003847 False Congenital adrenal insuffiency with 46, XY sex reversal OR 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0013400 MONDO:0005495 False Congenital adrenal insuffiency with 46, XY sex reversal OR 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency adrenal gland disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0013400 MONDO:0020040 False Congenital adrenal insuffiency with 46, XY sex reversal OR 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency 46,XY disorder of sex development UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0013404 MONDO:0000351 False hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase disorder of methionine catabolism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0013405 MONDO:0800405 False retinitis pigmentosa 49 CNGA1-related retinopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013409 MONDO:0100174 False age related macular degeneration 5 age related macular degeneration, susceptibility to UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013410 MONDO:0016674 False 46,XY sex reversal 6 46,XY partial gonadal dysgenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -26029,7 +22583,13 @@ MONDO:0013421 MONDO:0000015 False type II complement component 8 deficiency clas MONDO:0013421 MONDO:0015700 False type II complement component 8 deficiency immunodeficiency due to a late component of complement deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013422 MONDO:0000015 False type I complement component 8 deficiency classic complement early component deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013422 MONDO:0015700 False type I complement component 8 deficiency immunodeficiency due to a late component of complement deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0013424 MONDO:0016885 False 3p- syndrome partial deletion of the short arm of chromosome 3 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0013424 MONDO:0017393 False 3p- syndrome blepharophimosis - intellectual disability syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013425 MONDO:0100368 False retinitis pigmentosa 20 RPE65-related recessive retinopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0013427 MONDO:0015979 False immunodeficiency 31B hereditary predisposition to infections UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0013433 MONDO:0018646 False primary sclerosing cholangitis sclerosing cholangitis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0013437 MONDO:0700224 False retinitis pigmentosa 43 PDE6A-related retinopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0013438 MONDO:0016759 False pontocerebellar hypoplasia type 2D pontocerebellar hypoplasia type 2 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0013440 MONDO:0015286 False autosomal recessive limb-girdle muscular dystrophy type 2P congenital disorder of glycosylation UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0013443 MONDO:0800063 False Seckel syndrome 5 primordial dwarfism and slender bone disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013445 MONDO:0000015 False complement component 9 deficiency classic complement early component deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -26039,38 +22599,64 @@ MONDO:0013452 MONDO:0003847 False multisystemic smooth muscle dysfunction syndro MONDO:0013452 MONDO:0005385 False multisystemic smooth muscle dysfunction syndrome vascular disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013452 MONDO:0021189 False multisystemic smooth muscle dysfunction syndrome intestinal motility disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013456 MONDO:0001700 False constitutional megaloblastic anemia with severe neurologic disease megaloblastic anemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0013456 MONDO:0016624 False constitutional megaloblastic anemia with severe neurologic disease inherited deficiency anemia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0013456 MONDO:0017313 False constitutional megaloblastic anemia with severe neurologic disease disorder of folate metabolism and transport UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013458 MONDO:0005149 False hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome pulmonary hypertension UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0013458 MONDO:0015962 False hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome inherited renal tubular disease UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0013458 MONDO:0016387 False hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome mitochondrial oxidative phosphorylation disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013459 MONDO:0800064 False osteogenesis imperfecta type 10 osteogenesis imperfecta and a reduction of bone mineral density. UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013460 MONDO:0800064 False osteogenesis imperfecta type 12 osteogenesis imperfecta and a reduction of bone mineral density. UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013461 MONDO:0003847 False inosine triphosphatase deficiency hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013462 MONDO:0003847 False fucosyltransferase 6 deficiency hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013463 MONDO:0000119 False congenital heart defects, multiple types, 6 congenital heart defects, multiple types UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013463 MONDO:0019443 False congenital heart defects, multiple types, 6 dextro-looped transposition of the great arteries UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0013465 MONDO:0018852 False achromatopsia 4 achromatopsia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0013465 MONDO:0800392 False achromatopsia 4 GNAT2-related retinopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013469 MONDO:0800394 False retinitis pigmentosa 38 MERTK-related retinopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013473 MONDO:0003847 False Hirschsprung disease, cardiac defects, and autonomic dysfunction hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013480 MONDO:0018101 False renal hypomagnesemia 6 familial primary hypomagnesemia with normocalciuria and normocalcemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013481 MONDO:0002254 False chromosome 13q14 deletion syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0013481 MONDO:0016911 False chromosome 13q14 deletion syndrome partial deletion of the long arm of chromosome 13 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013483 MONDO:0003847 False obesity, hyperphagia, and developmental delay hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0013485 MONDO:0019792 False spinocerebellar ataxia type 35 autosomal dominant cerebellar ataxia type I UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0013486 MONDO:0019792 False spinocerebellar ataxia type 32 autosomal dominant cerebellar ataxia type I UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013487 MONDO:0003832 False recurrent Neisseria infections due to factor D deficiency complement deficiency UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013488 MONDO:0003847 False lipodystrophy, partial, acquired, with low complement component c3, with or without glomerulonephritis hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0013490 MONDO:0011391 False megalencephalic leukoencephalopathy with subcortical cysts 2A megalencephalic leukoencephalopathy with subcortical cysts UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0013491 MONDO:0011391 False megalencephalic leukoencephalopathy with subcortical cysts 2B, remitting, with or without intellectual disability megalencephalic leukoencephalopathy with subcortical cysts UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0013493 MONDO:0003847 False acetyl-coa carboxylase deficiency hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013495 MONDO:0017778 False autosomal recessive congenital ichthyosis 8 lamellar ichthyosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013496 MONDO:0020573 False IgA nephropathy, susceptibility to, 2 inherited disease susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013497 MONDO:0003847 False Okt4 epitope deficiency hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0013498 MONDO:0003847 False schizophrenia 15 hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0013498 MONDO:0005090 False schizophrenia 15 schizophrenia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS MONDO:0013500 MONDO:0015279 False immunodeficiency 51 chronic mucocutaneous candidiasis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS MONDO:0013501 MONDO:0030923 False frontotemporal dementia and/or amyotrophic lateral sclerosis 6 frontotemporal dementia and/or amyotrophic lateral sclerosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0013505 MONDO:0015746 False spermatogenic failure 9 male infertility due to globozoospermia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0013506 MONDO:0001384 False schizophrenia 16 myopia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS -MONDO:0013510 MONDO:0020573 False melanoma, cutaneous malignant, susceptibility to, 6 inherited disease susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0013506 MONDO:0005090 False schizophrenia 16 schizophrenia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS MONDO:0013511 MONDO:0003847 False cyanosis, transient neonatal hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013514 MONDO:0019575 False hypotrichosis 3 hypotrichosis simplex of the scalp UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013515 MONDO:0800064 False osteogenesis imperfecta type 6 osteogenesis imperfecta and a reduction of bone mineral density. UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013517 MONDO:0019402 False beta-thalassemia HBB/LCRB beta thalassemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0013519 MONDO:0006025 False dyskeratosis congenita, autosomal recessive 2 autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0013520 MONDO:0006025 False dyskeratosis congenita, autosomal recessive 3 autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0013521 MONDO:0000426 False dyskeratosis congenita, autosomal dominant 2 autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0013522 MONDO:0000426 False dyskeratosis congenita, autosomal dominant 3 autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0013523 MONDO:0006025 False Nestor-Guillermo progeria syndrome autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0013523 MONDO:0019707 False Nestor-Guillermo progeria syndrome primary osteolysis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0013527 MONDO:0015204 False lissencephaly 4 microlissencephaly UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0013527 MONDO:0700116 False lissencephaly 4 microcephaly with lissencephaly and/or hydranencephaly UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0013531 MONDO:0018162 False PSPH deficiency neurometabolic disorder due to serine deficiency UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013532 MONDO:0003847 False protein Z deficiency hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013533 MONDO:0001336 False hyperlipidemia due to hepatic triglyceride lipase deficiency familial hyperlipidemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0013533 MONDO:0015903 False hyperlipidemia due to hepatic triglyceride lipase deficiency hyperalphalipoproteinemia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0013534 MONDO:0019052 False apolipoprotein c-III deficiency inborn errors of metabolism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0013535 MONDO:0003847 False hydroxyacyl glutathione hydrolase deficiency hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0013536 MONDO:0017754 False heme oxygenase 1 deficiency inborn disorder of porphyrin metabolism UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0013539 MONDO:0019052 False hypotonia-failure to thrive-microcephaly syndrome inborn errors of metabolism UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013540 MONDO:0002254 False deafness-lymphedema-leukemia syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0013540 MONDO:0005570 False deafness-lymphedema-leukemia syndrome hematologic disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013540 MONDO:0019313 False deafness-lymphedema-leukemia syndrome lymphatic malformation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0013540 MONDO:0042982 False deafness-lymphedema-leukemia syndrome GATA2 deficiency with susceptibility to MDS/AML UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013543 MONDO:0003847 False trypsinogen deficiency hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -26078,35 +22664,52 @@ MONDO:0013546 MONDO:0000066 False mitochondrial complex V (ATP synthase) deficie MONDO:0013547 MONDO:0000066 False mitochondrial complex V (ATP synthase) deficiency nuclear type 3 mitochondrial complex deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013548 MONDO:0003847 False acetyl-CoA acetyltransferase-2 deficiency hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013549 MONDO:0003847 False N-acetylaspartate deficiency hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0013550 MONDO:0016108 False distal myopathy with posterior leg and anterior hand involvement autosomal dominant distal myopathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013554 MONDO:0100171 False psoriasis 13, susceptibility to psoriasis, susceptibility to UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013555 MONDO:0016502 False Hermansky-Pudlak syndrome 3 Hermansky-Pudlak syndrome without pulmonary fibrosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013556 MONDO:0016501 False Hermansky-Pudlak syndrome 4 Hermansky-Pudlak syndrome with pulmonary fibrosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013557 MONDO:0016502 False Hermansky-Pudlak syndrome 5 Hermansky-Pudlak syndrome without pulmonary fibrosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013558 MONDO:0016502 False Hermansky-Pudlak syndrome 6 Hermansky-Pudlak syndrome without pulmonary fibrosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013561 MONDO:0000226 False chondrodysplasia with joint dislocations, gPAPP type mineral metabolism disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0013561 MONDO:0002081 False chondrodysplasia with joint dislocations, gPAPP type musculoskeletal system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0013561 MONDO:0019052 False chondrodysplasia with joint dislocations, gPAPP type inborn errors of metabolism UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0013562 MONDO:0015979 False aspergillosis, susceptibility to hereditary predisposition to infections UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0013563 MONDO:0015327 False multiple congenital anomalies-hypotonia-seizures syndrome 1 developmental anomaly of metabolic origin UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0013563 MONDO:0017748 False multiple congenital anomalies-hypotonia-seizures syndrome 1 inborn disorder of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013564 MONDO:0003847 False anhaptoglobinemia hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013568 MONDO:0020573 False sick sinus syndrome 3, susceptibility to inherited disease susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013571 MONDO:0100306 False acatalasia disorder of defective peroxisome oxidative status UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0013572 MONDO:0020087 False Keppen-Lubinsky syndrome hereditary lipodystrophy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0013574 MONDO:0019755 False cutis laxa - Marfanoid syndrome developmental defect during embryogenesis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013575 MONDO:0003847 False plasma fibronectin deficiency hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0013576 MONDO:0003778 False recurrent infections associated with rare immunoglobulin isotypes deficiency inborn error of immunity UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013577 MONDO:0019296 False Lipedema subcutaneous tissue disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013578 MONDO:0000508 False DYRK1A-related intellectual disability syndrome syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0013578 MONDO:0002320 False DYRK1A-related intellectual disability syndrome congenital nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0013578 MONDO:0015159 False DYRK1A-related intellectual disability syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013579 MONDO:0000688 False methylmalonate semialdehyde dehydrogenase deficiency inborn organic aciduria UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0013579 MONDO:0019242 False methylmalonate semialdehyde dehydrogenase deficiency inborn disorder of branched-chain amino acid metabolism UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013583 MONDO:0003847 False occipital pachygyria and polymicrogyria hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013583 MONDO:0005560 False occipital pachygyria and polymicrogyria brain disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013584 MONDO:0003406 False hereditary sensory neuropathy-deafness-dementia syndrome sleep-wake disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0013584 MONDO:0015547 False hereditary sensory neuropathy-deafness-dementia syndrome hereditary dementia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013584 MONDO:0018213 False hereditary sensory neuropathy-deafness-dementia syndrome hereditary sensory and autonomic neuropathy type 1 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0013584 MONDO:0024237 False hereditary sensory neuropathy-deafness-dementia syndrome inherited neurodegenerative disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0013585 MONDO:0800463 False hydrolethalus syndrome 2 KIF7-related ciliopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0013587 MONDO:0016527 False glycogen storage disease due to lactate dehydrogenase H-subunit deficiency glycogen storage disease due to lactate dehydrogenase deficiency UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013587 MONDO:0017688 False glycogen storage disease due to lactate dehydrogenase H-subunit deficiency disorder of glycolysis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0013591 MONDO:0015627 False epiphyseal dysplasia, multiple, 6 multiple epiphyseal dysplasia due to collagen 9 anomaly UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0013592 MONDO:0019577 False nonsyndromic congenital nail disorder 9 anonychia-onychodystrophy syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0013594 MONDO:0019792 False spinocerebellar ataxia type 36 autosomal dominant cerebellar ataxia type I UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013595 MONDO:0003847 False hyperbiliverdinemia hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013595 MONDO:0005154 False hyperbiliverdinemia liver disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013597 MONDO:0021181 False platelet-type bleeding disorder 14 inherited blood coagulation disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013598 MONDO:0003847 False myostatin-related muscle hypertrophy hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0013598 MONDO:0003939 False myostatin-related muscle hypertrophy muscle tissue disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0013599 MONDO:0000569 False autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome autoimmune disorder of endocrine system UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0013599 MONDO:0015126 False autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome polyendocrinopathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0013599 MONDO:0019787 False autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome autoimmune enteropathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013600 MONDO:0005560 False insomnia brain disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013600 MONDO:0100081 False insomnia sleep disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013601 MONDO:0019052 False gluthathione peroxidase deficiency inborn errors of metabolism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013601 MONDO:0024626 False gluthathione peroxidase deficiency defective phagocytic cell engulfment UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013602 MONDO:0002714 False paragangliomas 5 central nervous system cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -26116,15 +22719,20 @@ MONDO:0013602 MONDO:0017366 False paragangliomas 5 hereditary pheochromocytoma-p MONDO:0013602 MONDO:0021089 False paragangliomas 5 peripheral nervous system cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013606 MONDO:0015541 False Hermansky-Pudlak syndrome 9 hereditary hemophagocytic lymphohistiocytosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0013607 MONDO:0042982 False monocytopenia with susceptibility to infections GATA2 deficiency with susceptibility to MDS/AML UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0013611 MONDO:0700229 False retinitis pigmentosa 62 MAK-related retinopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013614 MONDO:0003847 False hypertelorism-preauricular sinus-punctual pits-deafness syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0013615 MONDO:0015338 False craniosynostosis and dental anomalies syndromic craniosynostosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013618 MONDO:0003847 False craniofacial anomalies and anterior segment dysgenesis syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013619 MONDO:0019006 False nephrotic syndrome, type 6 familial idiopathic steroid-resistant nephrotic syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013620 MONDO:0020344 False congenital myasthenic syndrome 16 postsynaptic congenital myasthenic syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013620 MONDO:0100121 False congenital myasthenic syndrome 16 SCN4A-related myopathy, autosomal recessive UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0013625 MONDO:0008199 False Parkinson disease 17 late-onset Parkinson disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS +MONDO:0013626 MONDO:0019268 False psoriasis 14, pustular epidermal disease UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013626 MONDO:0023603 False psoriasis 14, pustular hereditary disorder of connective tissue UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013627 MONDO:0800063 False 3M syndrome 3 primordial dwarfism and slender bone disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013631 MONDO:0020573 False lung cancer susceptibility 5 inherited disease susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0013631 MONDO:0015356 False lung cancer susceptibility 5 hereditary neoplastic syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013633 MONDO:0800174 False encephalopathy, acute, infection-induced, susceptibility to, 4 encephalitis, acute, infection-induced, susceptibility to UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0013634 MONDO:0019941 False neuropathy, hereditary sensory, type 2C hereditary sensory and autonomic neuropathy type 2 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0013634 MONDO:0700055 False neuropathy, hereditary sensory, type 2C KIF1A related neurological disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013635 MONDO:0019713 False Adams-Oliver syndrome 2 non-syndromic limb reduction defect UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013639 MONDO:0100049 False narcolepsy 6, susceptibility to narcolepsy, susceptibility to UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -26132,6 +22740,11 @@ MONDO:0013640 MONDO:0002311 False familial retinal arterial macroaneurysm retina MONDO:0013640 MONDO:0003847 False familial retinal arterial macroaneurysm hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013640 MONDO:0005267 False familial retinal arterial macroaneurysm heart disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013643 MONDO:0000608 False hyperuricemic nephropathy, familial juvenile type 3 familial juvenile hyperuricemic nephropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0013644 MONDO:0018993 False Charcot-Marie-Tooth disease axonal type 2O Charcot-Marie-Tooth disease type 2 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0013645 MONDO:0020047 False autosomal recessive spinocerebellar ataxia 11 autosomal recessive syndromic cerebellar ataxia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0013646 MONDO:0015159 False chromosome 8q21.11 deletion syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0013646 MONDO:0016907 False chromosome 8q21.11 deletion syndrome partial deletion of the long arm of chromosome 8 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0013648 MONDO:0019289 False familial progressive hyperpigmentation hyperpigmentation of the skin UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013649 MONDO:0018914 False hypotrichosis 9 hypotrichosis simplex UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013650 MONDO:0018914 False hypotrichosis 10 hypotrichosis simplex UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013652 MONDO:0016158 False narcolepsy 7 narcolepsy-cataplexy syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -26143,28 +22756,42 @@ MONDO:0013659 MONDO:0002254 False microcephaly-capillary malformation syndrome s MONDO:0013659 MONDO:0003847 False microcephaly-capillary malformation syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013660 MONDO:0003847 False arthrogryposis, Perthes disease, and upward gaze palsy hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013661 MONDO:0002012 False combined malonic and methylmalonic acidemia methylmalonic acidemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0013661 MONDO:0019215 False combined malonic and methylmalonic acidemia classic organic aciduria UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013663 MONDO:0003847 False platelet-activating factor acetylhydrolase deficiency hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013665 MONDO:0020573 False epilepsy, juvenile myoclonic, susceptibility to, 9 inherited disease susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013668 MONDO:0003847 False tetrasomy 18p hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0013668 MONDO:0016951 False tetrasomy 18p partial trisomy/tetrasomy of the short arm of chromosome 18 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013670 MONDO:0001384 False myopia, high, with cataract and vitreoretinal degeneration myopia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0013671 MONDO:0016785 False hydatidiform mole, recurrent, 2 complete hydatidiform mole UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013671 MONDO:0018944 False hydatidiform mole, recurrent, 2 gestational trophoblastic neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013672 MONDO:0016913 False chromosome 15q25 deletion syndrome partial deletion of the long arm of chromosome 15 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0013673 MONDO:0003847 False Wolfram-like syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0013673 MONDO:0005151 False Wolfram-like syndrome endocrine system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0013677 MONDO:0020336 False Emery-Dreifuss muscular dystrophy 7, autosomal dominant autosomal dominant Emery-Dreifuss muscular dystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013678 MONDO:0002254 False EDICT syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013678 MONDO:0003847 False EDICT syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013680 MONDO:0003847 False cognitive impairment with or without cerebellar ataxia hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013681 MONDO:0019233 False alpha-methylacyl-CoA racemase deficiency disorder of peroxisomal beta oxidation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013685 MONDO:0020573 False pancreatic cancer, susceptibility to, 4 inherited disease susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013688 MONDO:0006499 False linear and whorled nevoid hypermelanosis hamartoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0013685 MONDO:0015356 False pancreatic cancer, susceptibility to, 4 hereditary neoplastic syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0013686 MONDO:0016108 False distal myopathy, Tateyama type autosomal dominant distal myopathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0013687 MONDO:0018446 False autosomal recessive spinocerebellar ataxia 12 autosomal recessive cerebellar ataxia - epilepsy - intellectual disability syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013688 MONDO:0011500 False linear and whorled nevoid hypermelanosis Becker nevus syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0013688 MONDO:0019289 False linear and whorled nevoid hypermelanosis hyperpigmentation of the skin UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0013690 MONDO:0003847 False Pitt-Hopkins-like syndrome 2 hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0013690 MONDO:0016377 False Pitt-Hopkins-like syndrome 2 Pitt-Hopkins-like syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0013692 MONDO:0015356 False BAP1-related tumor predisposition syndrome hereditary neoplastic syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0013695 MONDO:0000426 False colorectal cancer, hereditary nonpolyposis, type 6 autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0013696 MONDO:0003847 False chromosome 2p16.3 deletion syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013696 MONDO:0005090 False chromosome 2p16.3 deletion syndrome schizophrenia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0013696 MONDO:0016884 False chromosome 2p16.3 deletion syndrome partial deletion of the short arm of chromosome 2 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0013698 MONDO:0015240 False arthrogryposis, distal, type 1B digitotalar dysmorphism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0013699 MONDO:0000426 False Lynch syndrome 4 autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0013700 MONDO:0002356 False pancreatic triacylglycerol lipase deficiency pancreas disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0013700 MONDO:0002525 False pancreatic triacylglycerol lipase deficiency inherited lipid metabolism disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013705 MONDO:0019502 False intellectual disability, autosomal recessive 19 autosomal recessive non-syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0013710 MONDO:0000426 False Lynch syndrome 5 autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0013711 MONDO:0015362 False peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome neuronopathy, distal hereditary motor, autosomal dominant UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0013711 MONDO:0016108 False peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome autosomal dominant distal myopathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013713 MONDO:0015979 False dengue virus, susceptibility to hereditary predisposition to infections UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013715 MONDO:0017593 False amyotrophic lateral sclerosis type 16 juvenile amyotrophic lateral sclerosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013720 MONDO:0000015 False complement component 4b deficiency classic complement early component deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -26172,14 +22799,23 @@ MONDO:0013720 MONDO:0015699 False complement component 4b deficiency immunodefic MONDO:0013721 MONDO:0000015 False complement component 4a deficiency classic complement early component deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013721 MONDO:0015699 False complement component 4a deficiency immunodeficiency due to a classical component pathway complement deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013722 MONDO:0002254 False hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0013722 MONDO:0005039 False hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism reproductive system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0013722 MONDO:0005151 False hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism endocrine system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0013722 MONDO:0020022 False hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism central nervous system malformation UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013723 MONDO:0000108 False bacteremia, susceptibility to, 1 bacteremia, susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013724 MONDO:0000108 False bacteremia, susceptibility to, 2 bacteremia, susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0013725 MONDO:0000426 False colorectal cancer, hereditary nonpolyposis, type 7 autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0013726 MONDO:0100198 False encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1 Mendelian encephalopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013727 MONDO:0000144 False pregnancy loss, recurrent, susceptibility to, 1 pregnancy loss, recurrent, susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013728 MONDO:0000144 False pregnancy loss, recurrent, susceptibility to, 2 pregnancy loss, recurrent, susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013729 MONDO:0000144 False pregnancy loss, recurrent, susceptibility to, 3 pregnancy loss, recurrent, susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0013730 MONDO:0005046 False graft versus host disease immune system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0013730 MONDO:0700222 False graft versus host disease disease related to hematopoietic stem cell transplant UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0013731 MONDO:0019952 False MEGF10-related myopathy congenital myopathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS MONDO:0013732 MONDO:0003847 False glucocorticoid therapy, response to hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0013735 MONDO:0015159 False microcephaly-cerebellar hypoplasia-cardiac conduction defect syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0013737 MONDO:0015150 False hereditary spastic paraplegia 46 complex hereditary spastic paraplegia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0013740 MONDO:0015338 False lethal occipital encephalocele-skeletal dysplasia syndrome syndromic craniosynostosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013743 MONDO:0007915 False autosomal systemic lupus erythematosus type 16 systemic lupus erythematosus UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0013743 MONDO:0023603 False autosomal systemic lupus erythematosus type 16 hereditary disorder of connective tissue UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013744 MONDO:0020374 False cataract 37 cerulean cataract UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -26187,38 +22823,64 @@ MONDO:0013745 MONDO:0009480 False Joubert syndrome 14 Joubert syndrome with ocul MONDO:0013745 MONDO:0016364 False Joubert syndrome 14 Joubert syndrome with ocular defect UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013746 MONDO:0100009 False ventricular septal defect 1 structural congenital heart disease, multiple types - GATA4 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013747 MONDO:0100009 False atrioventricular septal defect 4 structural congenital heart disease, multiple types - GATA4 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0013751 MONDO:0019571 False cutis laxa, autosomal dominant 2 autosomal dominant cutis laxa UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0013753 MONDO:0018993 False Charcot-Marie-Tooth disease axonal type 2P Charcot-Marie-Tooth disease type 2 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0013754 MONDO:0019572 False cutis laxa, autosomal recessive, type 1B autosomal recessive cutis laxa type 1 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0013755 MONDO:0017569 False PYCR1-related de Barsy syndrome de Barsy syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0013757 MONDO:0019995 False congenital nongoitrous hypothryoidism 6 peripheral resistance to thyroid hormones UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013759 MONDO:0020573 False melanoma, cutaneous malignant, susceptibility to, 8 inherited disease susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0013758 MONDO:0019548 False Charcot-Marie-Tooth disease dominant intermediate E autosomal dominant intermediate Charcot-Marie-Tooth disease UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013760 MONDO:0015905 False congenital ichthyosis-intellectual disability-spastic quadriplegia syndrome syndromic dyslipidemia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0013760 MONDO:0018117 False congenital ichthyosis-intellectual disability-spastic quadriplegia syndrome disorder of phospholipids, sphingolipids and fatty acids biosynthesis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0013762 MONDO:0018424 False lipoic acid synthetase deficiency inherited lipoic acid biosynthesis defect UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013763 MONDO:0016364 False Joubert syndrome 15 Joubert syndrome with ocular defect UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013764 MONDO:0009480 False Joubert syndrome 16 Joubert syndrome with oculorenal defect UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0013765 MONDO:0020573 False coronary heart disease, susceptibility to, 6 inherited disease susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0013767 MONDO:0017979 False autoimmune lymphoproliferative syndrome type 4 autoimmune lymphoproliferative syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0013771 MONDO:0003847 False transient infantile hypertriglyceridemia and hepatosteatosis hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013771 MONDO:0005154 False transient infantile hypertriglyceridemia and hepatosteatosis liver disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013772 MONDO:0003847 False Huppke-Brendel syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013775 MONDO:0002242 False thrombomodulin-related bleeding disorder coagulation protein disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013775 MONDO:0002243 False thrombomodulin-related bleeding disorder hemorrhagic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0013779 MONDO:0021094 False Wiskott-Aldrich syndrome 2 immunodeficiency disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0013776 MONDO:0017847 False spastic ataxia 5 autosomal recessive spastic ataxia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0013776 MONDO:0018158 False spastic ataxia 5 mitochondrial DNA depletion syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS MONDO:0013784 MONDO:0100062 False neonatal-onset encephalopathy with rigidity and seizures developmental and epileptic encephalopathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0013787 MONDO:0003847 False psychomotor retardation, epilepsy, and craniofacial dysmorphism hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0013788 MONDO:0016485 False Usher syndrome type 3B Usher syndrome type 3 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0013789 MONDO:0017740 False DDOST-congenital disorder of glycosylation disorder of protein N-glycosylation UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013791 MONDO:0019144 False thrombophilia due to protein S deficiency, autosomal recessive hereditary thrombophilia due to congenital protein S deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013792 MONDO:0011057 False intracerebral hemorrhage cerebrovascular disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013793 MONDO:0003847 False encephalomyopathy, mitochondrial, due to voltage-dependent anion channel deficiency hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0013796 MONDO:0016967 False chromosome 17q12 duplication syndrome partial duplication of the long arm of chromosome 17 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0013797 MONDO:0016915 False chromosome 17q12 deletion syndrome partial deletion of the long arm of chromosome 17 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013798 MONDO:0016914 False chromosome 16q22 deletion syndrome partial deletion of the long arm of chromosome 16 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013801 MONDO:0018614 False developmental and epileptic encephalopathy, 13 undetermined early-onset epileptic encephalopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013801 MONDO:0100455 False developmental and epileptic encephalopathy, 13 neonatal-onset developmental and epileptic encephalopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013802 MONDO:0004884 False infantile cerebellar-retinal degeneration eye degenerative disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0013802 MONDO:0016790 False infantile cerebellar-retinal degeneration tricarboxylic acid cycle disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0013802 MONDO:0019118 False infantile cerebellar-retinal degeneration inherited retinal dystrophy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0013802 MONDO:0024237 False infantile cerebellar-retinal degeneration inherited neurodegenerative disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013803 MONDO:0006025 False leukoencephalopathy with calcifications and cysts autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013805 MONDO:0100172 False intellectual disability, autosomal dominant 13 intellectual disability, autosomal dominant UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0013806 MONDO:0015356 False familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome hereditary neoplastic syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0013806 MONDO:0019293 False familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome skin vascular disease UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013806 MONDO:0100118 False familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome hereditary skin disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013807 MONDO:0800396 False congenital stationary night blindness 1E GPR179-related retinopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013808 MONDO:0002531 False Maffucci syndrome skin neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0013808 MONDO:0015356 False Maffucci syndrome hereditary neoplastic syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0013808 MONDO:0019293 False Maffucci syndrome skin vascular disease UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0013808 MONDO:0019716 False Maffucci syndrome overgrowth syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0013808 MONDO:0019755 False Maffucci syndrome developmental defect during embryogenesis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013808 MONDO:0023603 False Maffucci syndrome hereditary disorder of connective tissue UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013808 MONDO:0024499 False Maffucci syndrome vascular bone neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013808 MONDO:0100118 False Maffucci syndrome hereditary skin disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0013810 MONDO:0017750 False COG6-ongenital disorder of glycosylation defect in conserved oligomeric Golgi complex UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0013813 MONDO:0000476 False dystonia 21 generalized dystonia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0013814 MONDO:0020573 False podoconiosis, susceptibility to inherited disease susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0013815 MONDO:0031615 False bent bone dysplasia syndrome 1 familial bent bone dysplasia syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0013819 MONDO:0000426 False intellectual disability, autosomal dominant 14 autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0013819 MONDO:0700120 False intellectual disability, autosomal dominant 14 BAFopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0013820 MONDO:0000426 False intellectual disability, autosomal dominant 15 autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0013820 MONDO:0700120 False intellectual disability, autosomal dominant 15 BAFopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0013821 MONDO:0000426 False intellectual disability, autosomal dominant 16 autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0013821 MONDO:0700120 False intellectual disability, autosomal dominant 16 BAFopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013825 MONDO:0021189 False congenital diarrhea 6 intestinal motility disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013835 MONDO:0100530 False muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7 myopathy caused by variation in CRPPA UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -26227,26 +22889,42 @@ MONDO:0013843 MONDO:0003847 False intestinal obstruction in the newborn due to g MONDO:0013843 MONDO:0021189 False intestinal obstruction in the newborn due to guanylate cyclase 2C deficiency intestinal motility disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013843 MONDO:0054868 False intestinal obstruction in the newborn due to guanylate cyclase 2C deficiency meconium ileus UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013846 MONDO:0020573 False peripartum cardiomyopathy, susceptibility to inherited disease susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0013847 MONDO:0016949 False chromosome 16p11.2 duplication syndrome partial duplication of the short arm of chromosome 16 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0013851 MONDO:0001713 False autosomal dominant aplasia and myelodysplasia inherited aplastic anemia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0013853 MONDO:0016396 False pontocerebellar hypoplasia type 1B pontocerebellar hypoplasia type 1 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0013855 MONDO:0015979 False influenza, severe, susceptibility to hereditary predisposition to infections UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013856 MONDO:0003847 False hypertelorism and other facial dysmorphism, brachydactyly, genital abnormalities, intellectual disability, and recurrent inflammatory episodes hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013857 MONDO:0003847 False alar cleft, isolated hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0013858 MONDO:0020022 False pontine tegmental cap dysplasia central nervous system malformation UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013859 MONDO:0011060 False cataract 38 early-onset non-syndromic cataract UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0013860 MONDO:0005334 False idiopathic membranous glomerulonephritis hereditary nephritis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013860 MONDO:0005376 False idiopathic membranous glomerulonephritis membranous glomerulonephritis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013860 MONDO:0700007 False idiopathic membranous glomerulonephritis idiopathic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013864 MONDO:0019713 False Cornelia de Lange syndrome 4 non-syndromic limb reduction defect UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0013866 MONDO:0019260 False neuronal ceroid lipofuscinosis 11 adult neuronal ceroid lipofuscinosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013868 MONDO:0019212 False porokeratosis 7, multiple types disseminated superficial actinic porokeratosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013869 MONDO:0004736 False adenine phosphoribosyltransferase deficiency inborn disorder of amino acid metabolism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0013869 MONDO:0019236 False adenine phosphoribosyltransferase deficiency inborn disorder of purine metabolism UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013870 MONDO:0016761 False TMEM165-congenital disorder of glycosylation spondyloepiphyseal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0013870 MONDO:0017740 False TMEM165-congenital disorder of glycosylation disorder of protein N-glycosylation UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013872 MONDO:0023122 False prostate cancer, hereditary, 2 familial prostate carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0013873 MONDO:0800063 False IMAGe syndrome primordial dwarfism and slender bone disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0013875 MONDO:0004069 False 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome inborn mitochondrial metabolism disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0013875 MONDO:0018117 False 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome disorder of phospholipids, sphingolipids and fatty acids biosynthesis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0013876 MONDO:0015356 False basal cell carcinoma, susceptibility to, 7 hereditary neoplastic syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013876 MONDO:0100047 False basal cell carcinoma, susceptibility to, 7 basal cell carcinoma, susceptibility to UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0013877 MONDO:0004069 False mitochondrial pyruvate carrier deficiency inborn mitochondrial metabolism disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0013877 MONDO:0006025 False mitochondrial pyruvate carrier deficiency autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0013877 MONDO:0016789 False mitochondrial pyruvate carrier deficiency pyruvate metabolism disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013880 MONDO:0003847 False facial paresis, hereditary congenital, 3 hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013880 MONDO:0017627 False facial paresis, hereditary congenital, 3 congenital hereditary facial paralysis-variable hearing loss syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0013884 MONDO:0100350 False neuronopathy, distal hereditary motor, type 5B neuronopathy, distal hereditary motor, type 5 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0013885 MONDO:0003847 False Malan overgrowth syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0013885 MONDO:0015160 False Malan overgrowth syndrome multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013885 MONDO:0018230 False Malan overgrowth syndrome skeletal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0013885 MONDO:0019716 False Malan overgrowth syndrome overgrowth syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0013886 MONDO:0019792 False cerebellar dysfunction with variable cognitive and behavioral abnormalities autosomal dominant cerebellar ataxia type I UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013889 MONDO:0800064 False short stature-optic atrophy-Pelger-HuC+t anomaly syndrome osteogenesis imperfecta and a reduction of bone mineral density. UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013892 MONDO:0005334 False C3 glomerulonephritis hereditary nephritis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0013892 MONDO:0018013 False C3 glomerulonephritis non-immunoglobulin-mediated membranoproliferative glomerulonephritis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013894 MONDO:0002254 False short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013894 MONDO:0800063 False short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome primordial dwarfism and slender bone disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013895 MONDO:0019713 False Adams-Oliver syndrome 3 non-syndromic limb reduction defect UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -26254,7 +22932,9 @@ MONDO:0013898 MONDO:0005334 False karyomegalic interstitial nephritis hereditary MONDO:0013899 MONDO:0100236 False Weill-Marchesani syndrome 3 LTBP2-related ocular dysgenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013900 MONDO:0700002 False alternating hemiplegia of childhood 2 ATP1A3-associated neurological disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013904 MONDO:0700075 False muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 congenital muscular dystrophy caused by variation in POMGNT2 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0013905 MONDO:0018189 False autosomal recessive spinocerebellar ataxia 13 autosomal recessive cerebellar ataxia - pyramidal signs - nystagmus - oculomotor apraxia syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013906 MONDO:0015048 False amelogenesis imperfecta hypomaturation type 2A4 amelogenesis imperfecta type 2 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0013907 MONDO:0017091 False bilateral generalized polymicrogyria bilateral polymicrogyria UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013907 MONDO:0018764 False bilateral generalized polymicrogyria microcephalic primordial dwarfism due to RTTN deficiency UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013908 MONDO:0020573 False thyrotoxic periodic paralysis, susceptibility to, 3 inherited disease susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013909 MONDO:0015979 False human herpesvirus 8, susceptibility to hereditary predisposition to infections UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -26262,15 +22942,20 @@ MONDO:0013910 MONDO:0018800 False hypogonadotropic hypogonadism 8 with or withou MONDO:0013911 MONDO:0018800 False hypogonadotropic hypogonadism 9 with or without anosmia Kallmann syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0013913 MONDO:0018800 False hypogonadotropic hypogonadism 11 with or without anosmia Kallmann syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0013917 MONDO:0017842 False nephronophthisis 15 Senior-Loken syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS +MONDO:0013918 MONDO:0017806 False distal tetrasomy 15q 15q overgrowth syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013919 MONDO:0020573 False epilepsy, idiopathic generalized, susceptibility to, 12 inherited disease susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013920 MONDO:0015979 False herpes simplex encephalitis, susceptibility to, 3 hereditary predisposition to infections UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013921 MONDO:0015979 False herpes simplex encephalitis, susceptibility to, 4 hereditary predisposition to infections UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013926 MONDO:0018800 False hypogonadotropic hypogonadism 14 with or without anosmia Kallmann syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0013927 MONDO:0100266 False peroxisome biogenesis disorder 3A (Zellweger) peroxisome biogenesis disorder due to PEX12 defect UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0013928 MONDO:0000477 False dystonia 23 focal dystonia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0013928 MONDO:0015990 False dystonia 23 focal, segmental or multifocal dystonia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013930 MONDO:0100263 False peroxisome biogenesis disorder 4A (Zellweger) peroxisome biogenesis disorder due to PEX6 defect UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013931 MONDO:0100263 False peroxisome biogenesis disorder 4B peroxisome biogenesis disorder due to PEX6 defect UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013932 MONDO:0100260 False peroxisome biogenesis disorder 5A (Zellweger) peroxisome biogenesis disorder due to PEX2 defect UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013933 MONDO:0100260 False peroxisome biogenesis disorder 5B peroxisome biogenesis disorder due to PEX2 defect UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0013934 MONDO:0015131 False combined immunodeficiency due to STK4 deficiency combined immunodeficiency UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0013935 MONDO:0010168 False Usher syndrome type 1J Usher syndrome type 1 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0013936 MONDO:0100264 False peroxisome biogenesis disorder 6A (Zellweger) peroxisome biogenesis disorder due to PEX10 defect UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013937 MONDO:0100264 False peroxisome biogenesis disorder 6B peroxisome biogenesis disorder due to PEX10 defect UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013938 MONDO:0100271 False peroxisome biogenesis disorder 7A (Zellweger) peroxisome biogenesis disorder due to PEX26 defect UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -26279,18 +22964,36 @@ MONDO:0013941 MONDO:0003847 False metaphyseal chondromatosis with D-2-hydroxyglu MONDO:0013941 MONDO:0005172 False metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria skeletal system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013942 MONDO:0100269 False peroxisome biogenesis disorder 8A (Zellweger) peroxisome biogenesis disorder due to PEX16 defect UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013943 MONDO:0100269 False peroxisome biogenesis disorder 8B peroxisome biogenesis disorder due to PEX16 defect UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0013944 MONDO:0019751 False autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation autoinflammatory syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013944 MONDO:0023603 False autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation hereditary disorder of connective tissue UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013945 MONDO:0019609 False peroxisome biogenesis disorder 9B Zellweger spectrum disorders UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013946 MONDO:0018800 False hypogonadotropic hypogonadism 15 with or without anosmia Kallmann syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0013947 MONDO:0001516 False neuronopathy, distal hereditary motor, autosomal recessive 5 spinal muscular atrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0013947 MONDO:0015363 False neuronopathy, distal hereditary motor, autosomal recessive 5 neuronopathy, distal hereditary motor, autosomal recessive UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS MONDO:0013948 MONDO:0100261 False peroxisome biogenesis disorder 10A (Zellweger) peroxisome biogenesis disorder due to PEX3 defect UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013949 MONDO:0100267 False peroxisome biogenesis disorder 11A (Zellweger) peroxisome biogenesis disorder due to PEX13 defect UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013950 MONDO:0100267 False peroxisome biogenesis disorder 11B peroxisome biogenesis disorder due to PEX13 defect UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013951 MONDO:0100270 False peroxisome biogenesis disorder 12A (Zellweger) peroxisome biogenesis disorder due to PEX19 defect UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013952 MONDO:0100268 False peroxisome biogenesis disorder 13A (Zellweger) peroxisome biogenesis disorder due to PEX14 defect UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0013953 MONDO:0003778 False immunodeficiency 28 inborn error of immunity UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0013954 MONDO:0019146 False Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency inherited susceptibility to mycobacterial diseases UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0013955 MONDO:0019146 False Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency inherited susceptibility to mycobacterial diseases UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0013956 MONDO:0019146 False Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency inherited susceptibility to mycobacterial diseases UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0013957 MONDO:0019146 False Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency inherited susceptibility to mycobacterial diseases UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0013959 MONDO:0018995 False Charcot-Marie-Tooth disease type 4F Charcot-Marie-Tooth disease type 4 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0013960 MONDO:0003847 False sinoatrial node dysfunction and deafness hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013960 MONDO:0007263 False sinoatrial node dysfunction and deafness cardiac rhythm disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013961 MONDO:0018800 False hypogonadotropic hypogonadism 16 with or without anosmia Kallmann syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0013962 MONDO:0015150 False hereditary spastic paraplegia 53 complex hereditary spastic paraplegia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013967 MONDO:0100279 False peroxisome biogenesis disorder 14B peroxisome biogenesis disorder due to PEX11B defect UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0013968 MONDO:0016333 False PGM1-congenital disorder of glycosylation familial dilated cardiomyopathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0013968 MONDO:0017740 False PGM1-congenital disorder of glycosylation disorder of protein N-glycosylation UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0013970 MONDO:0006025 False branched-chain keto acid dehydrogenase kinase deficiency autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0013970 MONDO:0019242 False branched-chain keto acid dehydrogenase kinase deficiency inborn disorder of branched-chain amino acid metabolism UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0013971 MONDO:0019046 False leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome leukodystrophy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS +MONDO:0013974 MONDO:0019071 False ectodermal dysplasia 6, hair/nail type pure hair and nail ectodermal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0013975 MONDO:0019071 False ectodermal dysplasia 7, hair/nail type pure hair and nail ectodermal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0013976 MONDO:0019071 False ectodermal dysplasia 9, hair/nail type pure hair and nail ectodermal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0013980 MONDO:0019332 False palmoplantar keratoderma, punctate type ib punctate palmoplantar keratoderma type 1 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013981 MONDO:0003847 False myoclonus, familial hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013981 MONDO:0005395 False myoclonus, familial movement disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -26298,55 +23001,94 @@ MONDO:0013982 MONDO:0015884 False ectodermal dysplasia 11A, hypohidrotic/hair/to MONDO:0013983 MONDO:0016619 False ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessive autosomal recessive hypohidrotic ectodermal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013988 MONDO:0000119 False congenital heart defects, multiple types, 3 congenital heart defects, multiple types UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013988 MONDO:0003847 False congenital heart defects, multiple types, 3 hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013991 MONDO:0016553 False obesity due to congenital leptin deficiency isolated congenital hypogonadotropic hypogonadism UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013992 MONDO:0016553 False obesity due to leptin receptor gene deficiency isolated congenital hypogonadotropic hypogonadism UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0013991 MONDO:0015770 False obesity due to congenital leptin deficiency congenital hypogonadotropic hypogonadism UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0013991 MONDO:0019182 False obesity due to congenital leptin deficiency inherited obesity UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0013992 MONDO:0015770 False obesity due to leptin receptor gene deficiency congenital hypogonadotropic hypogonadism UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0013992 MONDO:0019182 False obesity due to leptin receptor gene deficiency inherited obesity UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0013994 MONDO:0016364 False Joubert syndrome 20 Joubert syndrome with ocular defect UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013995 MONDO:0017290 False cholestasis, intrahepatic, of pregnancy, 3 familial intrahepatic cholestasis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0013995 MONDO:0100429 False cholestasis, intrahepatic, of pregnancy, 3 intrahepatic cholestasis of pregnancy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0013996 MONDO:0009203 False focal facial dermal dysplasia type II focal facial dermal dysplasia type III UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING -MONDO:0013999 MONDO:0020249 False optic nerve edema-splenomegaly syndrome hereditary optic neuropathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0013999 MONDO:0020249 False retinal dystrophy, optic nerve edema, splenomegaly, anhidrosis, and migraine headache syndrome hereditary optic neuropathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014000 MONDO:0000119 False congenital heart defects, multiple types, 2 congenital heart defects, multiple types UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014000 MONDO:0003847 False congenital heart defects, multiple types, 2 hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014000 MONDO:0019512 False congenital heart defects, multiple types, 2 congenital heart malformation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014001 MONDO:0010168 False Usher syndrome type 1K Usher syndrome type 1 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0014002 MONDO:0020300 False autosomal dominant nocturnal frontal lobe epilepsy 5 autosomal dominant nocturnal frontal lobe epilepsy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0014003 MONDO:0018097 False developmental and epileptic encephalopathy, 15 West syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0014004 MONDO:0700007 False basal ganglia calcification, idiopathic, 4 idiopathic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014005 MONDO:0005334 False immunoglobulin-mediated membranoproliferative glomerulonephritis hereditary nephritis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014005 MONDO:0018904 False immunoglobulin-mediated membranoproliferative glomerulonephritis primary membranoproliferative glomerulonephritis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014006 MONDO:0000508 False Schuurs-Hoeijmakers syndrome syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0014006 MONDO:0002320 False Schuurs-Hoeijmakers syndrome congenital nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0014006 MONDO:0015159 False Schuurs-Hoeijmakers syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014008 MONDO:0003847 False phosphohydroxylysinuria hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014009 MONDO:0019306 False autosomal recessive congenital ichthyosis 7 congenital non-bullous ichthyosiform erythroderma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014010 MONDO:0019306 False autosomal recessive congenital ichthyosis 9 congenital non-bullous ichthyosiform erythroderma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014011 MONDO:0019306 False autosomal recessive congenital ichthyosis 10 congenital non-bullous ichthyosiform erythroderma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014012 MONDO:0018993 False Charcot-Marie-Tooth disease axonal type 2Q Charcot-Marie-Tooth disease type 2 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0014013 MONDO:0004573 False maternal riboflavin deficiency ariboflavinosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014013 MONDO:0017757 False maternal riboflavin deficiency disorder of metabolite absorption and transport UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014016 MONDO:0015150 False hereditary spastic paraplegia 49 complex hereditary spastic paraplegia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014018 MONDO:0015150 False hereditary spastic paraplegia 54 complex hereditary spastic paraplegia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014019 MONDO:0015990 False dystonia 24 focal, segmental or multifocal dystonia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014020 MONDO:0015150 False hereditary spastic paraplegia 55 complex hereditary spastic paraplegia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014020 MONDO:0016387 False hereditary spastic paraplegia 55 mitochondrial oxidative phosphorylation disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014022 MONDO:0018939 False muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 10 muscle-eye-brain disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014023 MONDO:0017749 False congenital muscular dystrophy with intellectual disability and severe epilepsy disorder of multiple glycosylation UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014023 MONDO:0018276 False congenital muscular dystrophy with intellectual disability and severe epilepsy muscular dystrophy-dystroglycanopathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0014024 MONDO:0015150 False hereditary spastic paraplegia 43 complex hereditary spastic paraplegia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014025 MONDO:0019079 False lower motor neuron syndrome with late-adult onset proximal spinal muscular atrophy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014027 MONDO:0018914 False hypotrichosis 11 hypotrichosis simplex UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014029 MONDO:0800064 False osteogenesis imperfecta type 14 osteogenesis imperfecta and a reduction of bone mineral density. UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014031 MONDO:0002254 False microcephalic primordial dwarfism, Alazami type syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014031 MONDO:0800063 False microcephalic primordial dwarfism, Alazami type primordial dwarfism and slender bone disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014032 MONDO:0021004 False brachydactyly type A1C brachydactyly UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0014033 MONDO:0000478 False dystonia 25 multifocal dystonia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0014033 MONDO:0015990 False dystonia 25 focal, segmental or multifocal dystonia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014034 MONDO:0000508 False severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0014034 MONDO:0002320 False severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome congenital nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0014034 MONDO:0015159 False severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014035 MONDO:0000508 False severe intellectual disability-progressive spastic diplegia syndrome syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0014035 MONDO:0002320 False severe intellectual disability-progressive spastic diplegia syndrome congenital nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0014035 MONDO:0015159 False severe intellectual disability-progressive spastic diplegia syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014035 MONDO:0100172 False severe intellectual disability-progressive spastic diplegia syndrome intellectual disability, autosomal dominant UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING -MONDO:0014038 MONDO:0020573 False colorectal cancer, susceptibility to, 12 inherited disease susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014036 MONDO:0004975 False Alzheimer disease 17 Alzheimer disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0014038 MONDO:0015356 False colorectal cancer, susceptibility to, 12 hereditary neoplastic syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014043 MONDO:0018230 False microcephalic primordial dwarfism due to ZNF335 deficiency skeletal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014044 MONDO:0015160 False dysmorphism-conductive hearing loss-heart defect syndrome multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014050 MONDO:0016764 False isolated microphthalmia 8 isolated anophthalmia-microphthalmia syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014051 MONDO:0015487 False cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2 fatal infantile encephalocardiomyopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0014052 MONDO:0020344 False congenital myasthenic syndrome 8 postsynaptic congenital myasthenic syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014056 MONDO:0020573 False melanoma, cutaneous malignant, susceptibility to, 9 inherited disease susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014056 MONDO:0100242 False melanoma, cutaneous malignant, susceptibility to, 9 glioma susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0014058 MONDO:0003847 False facial dysmorphism-immunodeficiency-livedo-short stature syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014060 MONDO:0019118 False progressive retinal dystrophy due to retinol transport defect inherited retinal dystrophy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014061 MONDO:0016761 False Steel syndrome spondyloepiphyseal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014062 MONDO:0018158 False mitochondrial DNA deletion syndrome with progressive myopathy mitochondrial DNA depletion syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS +MONDO:0014067 MONDO:0015159 False short ulna-dysmorphism-hypotonia-intellectual disability syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014069 MONDO:0019054 False syndactyly-camptodactyly and clinodactyly of fifth fingers-bifid toes syndrome congenital limb malformation UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014071 MONDO:0018939 False muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11 muscle-eye-brain disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014072 MONDO:0016001 False D,L-2-hydroxyglutaric aciduria 2-hydroxyglutaric aciduria UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0014074 MONDO:0019548 False Charcot-Marie-Tooth disease dominant intermediate F autosomal dominant intermediate Charcot-Marie-Tooth disease UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014075 MONDO:0011060 False cataract 39 multiple types early-onset non-syndromic cataract UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0014076 MONDO:0006025 False dyskeratosis congenita, autosomal recessive 5 autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0014076 MONDO:0800467 False dyskeratosis congenita, autosomal recessive 5 dyskeratosis congenita and related telomere biology disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014077 MONDO:0018869 False cobblestone lissencephaly without muscular or ocular involvement cobblestone lissencephaly UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014078 MONDO:0015372 False platelet-type bleeding disorder 15 autosomal dominant macrothrombocytopenia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014080 MONDO:0017198 False osteosclerotic metaphyseal dysplasia osteopetrosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0014081 MONDO:0044201 False severe combined immunodeficiency due to CARD11 deficiency T+ B+ severe combined immunodeficiency UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014083 MONDO:0011096 False agammaglobulinemia 7, autosomal recessive autosomal agammaglobulinemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014084 MONDO:0015244 False ataxia with oculomotor apraxia type 3 autosomal recessive cerebellar ataxia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS MONDO:0014086 MONDO:0800064 False osteogenesis imperfecta type 15 osteogenesis imperfecta and a reduction of bone mineral density. UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014089 MONDO:0017666 False corneal intraepithelial dyskeratosis-palmoplantar hyperkeratosis-laryngeal dyskeratosis syndrome diffuse palmoplantar keratoderma UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014089 MONDO:0020212 False corneal intraepithelial dyskeratosis-palmoplantar hyperkeratosis-laryngeal dyskeratosis syndrome superficial corneal dystrophy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014090 MONDO:0019673 False polydactyly, postaxial, type A6 postaxial polydactyly type A UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014091 MONDO:0000066 False mitochondrial complex V (ATP synthase) deficiency nuclear type 4 mitochondrial complex deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014091 MONDO:0020727 False mitochondrial complex V (ATP synthase) deficiency nuclear type 4 combined oxidative phosphorylation deficiency 22 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS MONDO:0014092 MONDO:0100182 False schizophrenia 18 schizophrenia, susceptibility to UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014094 MONDO:0000577 False severe congenital hypochromic anemia with ringed sideroblasts congenital anemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014094 MONDO:0016624 False severe congenital hypochromic anemia with ringed sideroblasts inherited deficiency anemia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014094 MONDO:0020099 False severe congenital hypochromic anemia with ringed sideroblasts inherited sideroblastic anemia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0014096 MONDO:0015159 False microcephaly-intellectual disability-phalangeal and neurological anomalies syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014097 MONDO:0021147 False congenital short bowel syndrome disorder of development or morphogenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014097 MONDO:0024635 False congenital short bowel syndrome small intestine disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -26358,12 +23100,17 @@ MONDO:0014106 MONDO:0018800 False hypogonadotropic hypogonadism 20 with or witho MONDO:0014107 MONDO:0018800 False hypogonadotropic hypogonadism 21 with or without anosmia Kallmann syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0014110 MONDO:0011060 False cataract 15 multiple types early-onset non-syndromic cataract UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0014111 MONDO:0011060 False cataract 19 multiple types early-onset non-syndromic cataract UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0014115 MONDO:0019046 False hypomyelination with brain stem and spinal cord involvement and leg spasticity leukodystrophy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0014117 MONDO:0018995 False Charcot-Marie-Tooth disease type 4B3 Charcot-Marie-Tooth disease type 4 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0014118 MONDO:0028226 False congenital neutropenia-myelofibrosis-nephromegaly syndrome autosomal recessive severe congenital neutropenia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014119 MONDO:0002254 False intellectual disability-strabismus syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0014119 MONDO:0003847 False intellectual disability-strabismus syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0014119 MONDO:0024458 False intellectual disability-strabismus syndrome disorder of visual system UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014124 MONDO:0019713 False Adams-Oliver syndrome 4 non-syndromic limb reduction defect UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014128 MONDO:0015338 False TCF12-related craniosynostosis syndromic craniosynostosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014130 MONDO:0008371 False Dowling-Degos disease 2 Dowling-Degos disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014131 MONDO:0006025 False hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014131 MONDO:0017666 False hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome diffuse palmoplantar keratoderma UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014133 MONDO:0017385 False developmental and epileptic encephalopathy, 16 malignant migrating partial seizures of infancy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014133 MONDO:0100455 False developmental and epileptic encephalopathy, 16 neonatal-onset developmental and epileptic encephalopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014138 MONDO:0015735 False nemaline myopathy 8 severe congenital nemaline myopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -26373,36 +23120,56 @@ MONDO:0014140 MONDO:0700084 False muscular dystrophy-dystroglycanopathy (congeni MONDO:0014141 MONDO:0700084 False muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B14 myopathy caused by variation in GMPPB UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014142 MONDO:0700084 False autosomal recessive limb-girdle muscular dystrophy type 2T myopathy caused by variation in GMPPB UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014144 MONDO:0018243 False autosomal recessive limb-girdle muscular dystrophy type R18 intellectual disability-hyperkinetic movement-truncal ataxia syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014147 MONDO:0019260 False neuronal ceroid lipofuscinosis 13 adult neuronal ceroid lipofuscinosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014148 MONDO:0002254 False estrogen resistance syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014148 MONDO:0003847 False estrogen resistance syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014148 MONDO:0005039 False estrogen resistance syndrome reproductive system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014148 MONDO:0005151 False estrogen resistance syndrome endocrine system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014149 MONDO:0019952 False fetal akinesia-cerebral and retinal hemorrhage syndrome congenital myopathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0014150 MONDO:0016025 False developmental and epileptic encephalopathy 94 myoclonic-astatic epilepsy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014150 MONDO:0016532 False developmental and epileptic encephalopathy 94 Lennox-Gastaut syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS MONDO:0014151 MONDO:0020573 False pulmonary hypertension, neonatal, susceptibility to inherited disease susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014153 MONDO:0100448 False cone-rod dystrophy 18 RAB28-related retinopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014154 MONDO:0017058 False Charcot-Marie-Tooth disease recessive intermediate C autosomal recessive intermediate Charcot-Marie-Tooth disease UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014157 MONDO:0003847 False mandibular hypoplasia-deafness-progeroid syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014157 MONDO:0019303 False mandibular hypoplasia-deafness-progeroid syndrome premature aging syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014160 MONDO:0018814 False TCR-alpha-beta-positive T-cell deficiency non-SCID combined immunodeficiency UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014165 MONDO:0005172 False multiple congenital anomalies-hypotonia-seizures syndrome 3 skeletal system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014165 MONDO:0015327 False multiple congenital anomalies-hypotonia-seizures syndrome 3 developmental anomaly of metabolic origin UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014165 MONDO:0017748 False multiple congenital anomalies-hypotonia-seizures syndrome 3 inborn disorder of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014168 MONDO:0044200 False severe combined immunodeficiency due to CORO1A deficiency T-B+ severe combined immunodeficiency UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014172 MONDO:0018394 False spermatogenic failure 12 male infertility with teratozoospermia due to single gene mutation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014176 MONDO:0002320 False hypotonia, infantile, with psychomotor retardation and characteristic facies congenital nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014176 MONDO:0015159 False hypotonia, infantile, with psychomotor retardation and characteristic facies multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014176 MONDO:0024237 False hypotonia, infantile, with psychomotor retardation and characteristic facies inherited neurodegenerative disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014185 MONDO:0016902 False chromosome 3q13.31 deletion syndrome partial deletion of the long arm of chromosome 3 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014189 MONDO:0100174 False age related macular degeneration 13 age related macular degeneration, susceptibility to UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014195 MONDO:0019118 False microcornea-myopic chorioretinal atrophy inherited retinal dystrophy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014196 MONDO:0002254 False Hartsfield-Bixler-Demyer syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014196 MONDO:0015159 False Hartsfield-Bixler-Demyer syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014196 MONDO:0018230 False Hartsfield-Bixler-Demyer syndrome skeletal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014198 MONDO:0016796 False mitochondrial DNA depletion syndrome 13 mitochondrial DNA depletion syndrome, encephalomyopathic form UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014200 MONDO:0016525 False aldosterone-producing adenoma with seizures and neurological abnormalities familial hyperaldosteronism UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0014201 MONDO:0002320 False developmental and epileptic encephalopathy, 18 congenital nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0014201 MONDO:0015159 False developmental and epileptic encephalopathy, 18 multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014201 MONDO:0020071 False developmental and epileptic encephalopathy, 18 infantile epilepsy syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014204 MONDO:0700007 False basal ganglia calcification, idiopathic, 5 idiopathic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014205 MONDO:0003847 False severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0014205 MONDO:0015159 False severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014206 MONDO:0012580 False severe early-onset pulmonary alveolar proteinosis due to MARS deficiency hereditary pulmonary alveolar proteinosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0014208 MONDO:0018993 False Charcot-Marie-Tooth disease type 2R Charcot-Marie-Tooth disease type 2 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0014210 MONDO:0000508 False intellectual disability-hypotonia-spasticity-sleep disorder syndrome syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0014210 MONDO:0003847 False intellectual disability-hypotonia-spasticity-sleep disorder syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0014213 MONDO:0000508 False intellectual disability-feeding difficulties-developmental delay-microcephaly syndrome syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0014213 MONDO:0002320 False intellectual disability-feeding difficulties-developmental delay-microcephaly syndrome congenital nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0014213 MONDO:0015159 False intellectual disability-feeding difficulties-developmental delay-microcephaly syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014218 MONDO:0002254 False severe dermatitis-multiple allergies-metabolic wasting syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014218 MONDO:0003847 False severe dermatitis-multiple allergies-metabolic wasting syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014219 MONDO:0002254 False alacrima, achalasia, and intellectual disability syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0014220 MONDO:0005336 False myopathy due to myoadenylate deaminase deficiency myopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014219 MONDO:0006025 False alacrima, achalasia, and intellectual disability syndrome autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0014220 MONDO:0700223 False myopathy due to myoadenylate deaminase deficiency hereditary skeletal muscle disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014221 MONDO:0003689 False triosephosphate isomerase deficiency familial hemolytic anemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0014221 MONDO:0020585 False triosephosphate isomerase deficiency anemia due to erythrocyte enzyme disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014221 MONDO:0002908 False triosephosphate isomerase deficiency glucose metabolism disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0014221 MONDO:0017688 False triosephosphate isomerase deficiency disorder of glycolysis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014222 MONDO:0018338 False immunodeficiency 14 activated PI3K-delta syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014224 MONDO:0100500 False developmental delay with autism spectrum disorder and gait instability Mendelian neurodevelopmental disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014226 MONDO:0700007 False idiopathic CD4 lymphocytopenia idiopathic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -26410,63 +23177,114 @@ MONDO:0014227 MONDO:0000426 False hypopigmentation-punctate palmoplantar keratod MONDO:0014231 MONDO:0000828 False juvenile onset Parkinson disease 19A juvenile-onset Parkinson disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0014231 MONDO:0018321 False juvenile onset Parkinson disease 19A atypical juvenile parkinsonism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014232 MONDO:0020573 False craniosynostosis 5, susceptibility to inherited disease susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014233 MONDO:0017279 False early-onset Parkinson disease 20 young-onset Parkinson disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0014234 MONDO:0019289 False reticulate acropigmentation of Kitamura hyperpigmentation of the skin UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014235 MONDO:0016972 False chromosome 22q13 duplication syndrome partial duplication of the long arm of chromosome 22 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014236 MONDO:0011142 False Ehlers-Danlos syndrome, musculocontractural type 2 Ehlers-Danlos syndrome, musculocontractural type UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014238 MONDO:0003847 False severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0014238 MONDO:0015159 False severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014239 MONDO:0003847 False testicular anomalies with or without congenital heart disease hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014239 MONDO:0016674 False testicular anomalies with or without congenital heart disease 46,XY partial gonadal dysgenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014241 MONDO:0020573 False leukemia, acute lymphoblastic, susceptibility to, 3 inherited disease susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014241 MONDO:0015356 False leukemia, acute lymphoblastic, susceptibility to, 3 hereditary neoplastic syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014243 MONDO:0008300 False Schaaf-Yang syndrome Prader-Willi syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS -MONDO:0014247 MONDO:0002254 False familial episodic pain syndrome with predominantly lower limb involvement syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0014248 MONDO:0015327 False autism spectrum disorder - epilepsy - arthrogryposis syndrome developmental anomaly of metabolic origin UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014248 MONDO:0017740 False autism spectrum disorder - epilepsy - arthrogryposis syndrome disorder of protein N-glycosylation UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014248 MONDO:0019942 False autism spectrum disorder - epilepsy - arthrogryposis syndrome distal arthrogryposis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0014249 MONDO:0000620 False multiple fibroadenoma of the breast breast benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014249 MONDO:0003847 False multiple fibroadenoma of the breast hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014250 MONDO:0003847 False familial hyperprolactinemia hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014250 MONDO:0005804 False familial hyperprolactinemia hyperprolactinemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014251 MONDO:0015979 False melioidosis, susceptibility to hereditary predisposition to infections UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014252 MONDO:0017774 False familial hypobetalipoproteinemia 1 hypobetalipoproteinemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0014255 MONDO:0003847 False complement factor b deficiency hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014257 MONDO:0019006 False nephrotic syndrome, type 9 familial idiopathic steroid-resistant nephrotic syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014258 MONDO:0002254 False congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014258 MONDO:0003847 False congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014258 MONDO:0019052 False congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome inborn errors of metabolism UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014259 MONDO:0015352 False neuronopathy, distal hereditary motor, type 2D distal hereditary motor neuropathy type 2 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0014262 MONDO:0005172 False Rienhoff syndrome skeletal system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014263 MONDO:0003847 False 8q24.3 microdeletion syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014263 MONDO:0005267 False 8q24.3 microdeletion syndrome heart disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014263 MONDO:0015159 False 8q24.3 microdeletion syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014263 MONDO:0016907 False 8q24.3 microdeletion syndrome partial deletion of the long arm of chromosome 8 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014265 MONDO:0004975 False Alzheimer disease 18 Alzheimer disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0014265 MONDO:0015547 False Alzheimer disease 18 hereditary dementia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014265 MONDO:0024237 False Alzheimer disease 18 inherited neurodegenerative disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014266 MONDO:0100174 False age related macular degeneration 15 age related macular degeneration, susceptibility to UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014267 MONDO:0044201 False severe combined immunodeficiency due to IKK2 deficiency T+ B+ severe combined immunodeficiency UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014270 MONDO:0017740 False STT3A-congenital disorder of glycosylation disorder of protein N-glycosylation UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014271 MONDO:0017740 False STT3B-congenital disorder of glycosylation disorder of protein N-glycosylation UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014272 MONDO:0017666 False palmoplantar keratoderma, Nagashima type diffuse palmoplantar keratoderma UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014273 MONDO:0003847 False microcephaly-thin corpus callosum-intellectual disability syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0014273 MONDO:0015159 False microcephaly-thin corpus callosum-intellectual disability syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014274 MONDO:0003847 False L-ferritin deficiency hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014274 MONDO:0005570 False L-ferritin deficiency hematologic disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014275 MONDO:0007600 False Fanconi renotubular syndrome 3 primary Fanconi syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014278 MONDO:0015703 False immunodeficiency 18 T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014278 MONDO:0031520 False immunodeficiency 18 familial severe combined immunodeficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0014280 MONDO:0015703 False immunodeficiency 19 T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014281 MONDO:0020573 False cholangiocarcinoma, susceptibility to inherited disease susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014280 MONDO:0031520 False immunodeficiency 19 familial severe combined immunodeficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0014281 MONDO:0015356 False cholangiocarcinoma, susceptibility to hereditary neoplastic syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014282 MONDO:0015149 False hereditary spastic paraplegia 72 pure hereditary spastic paraplegia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014285 MONDO:0020337 False congenital dyserythropoietic anemia type type 1B congenital dyserythropoietic anemia type 1 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0014286 MONDO:0018213 False neuropathy, hereditary sensory, type 1F hereditary sensory and autonomic neuropathy type 1 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0014288 MONDO:0018342 False Joubert syndrome 21 Joubert syndrome with Jeune asphyxiating thoracic dystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014289 MONDO:0003847 False macrocephaly-developmental delay syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0014289 MONDO:0015159 False macrocephaly-developmental delay syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014292 MONDO:0019046 False leukoencephalopathy with mild cerebellar ataxia and white matter edema leukodystrophy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0014294 MONDO:0016913 False chromosome 15q11.2 deletion syndrome partial deletion of the long arm of chromosome 15 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014295 MONDO:0015150 False hereditary spastic paraplegia 57 complex hereditary spastic paraplegia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014298 MONDO:0015159 False chromosome 5q12 deletion syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014298 MONDO:0016904 False chromosome 5q12 deletion syndrome partial deletion of the long arm of chromosome 5 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014300 MONDO:0005336 False proximal myopathy with extrapyramidal signs myopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0014300 MONDO:0005395 False proximal myopathy with extrapyramidal signs movement disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0014300 MONDO:0700223 False proximal myopathy with extrapyramidal signs hereditary skeletal muscle disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014301 MONDO:0008371 False dowling-degos disease 3 Dowling-Degos disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014302 MONDO:0015149 False hereditary spastic paraplegia 62 pure hereditary spastic paraplegia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014303 MONDO:0015150 False hereditary spastic paraplegia 64 complex hereditary spastic paraplegia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014304 MONDO:0015150 False hereditary spastic paraplegia 61 complex hereditary spastic paraplegia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014305 MONDO:0015150 False hereditary spastic paraplegia 63 complex hereditary spastic paraplegia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014306 MONDO:0002254 False vasculitis due to ADA2 deficiency syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014306 MONDO:0018882 False vasculitis due to ADA2 deficiency vasculitis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014306 MONDO:0100317 False vasculitis due to ADA2 deficiency deficiency of adenosine deaminase 2 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014307 MONDO:0008371 False Dowling-Degos disease 4 Dowling-Degos disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014309 MONDO:0019182 False obesity due to CEP19 deficiency inherited obesity UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0014310 MONDO:0005087 False hereditary sclerosing poikiloderma with tendon and pulmonary involvement respiratory system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014310 MONDO:0016382 False hereditary sclerosing poikiloderma with tendon and pulmonary involvement hereditary poikiloderma UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014310 MONDO:0100118 False hereditary sclerosing poikiloderma with tendon and pulmonary involvement hereditary skin disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014311 MONDO:0018446 False autosomal recessive spinocerebellar ataxia 15 autosomal recessive cerebellar ataxia - epilepsy - intellectual disability syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014313 MONDO:0003778 False autosomal recessive primary immunodeficiency with defective spontaneous natural killer cell cytotoxicity inborn error of immunity UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0014314 MONDO:0003847 False sacral agenesis-abnormal ossification of the vertebral bodies-persistent notochordal canal syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014314 MONDO:0018075 False sacral agenesis-abnormal ossification of the vertebral bodies-persistent notochordal canal syndrome neural tube defect UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014316 MONDO:0004975 False Alzheimer disease 19 Alzheimer disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0014316 MONDO:0015547 False Alzheimer disease 19 hereditary dementia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014316 MONDO:0024237 False Alzheimer disease 19 inherited neurodegenerative disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014317 MONDO:0001713 False pancytopenia-developmental delay syndrome inherited aplastic anemia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014320 MONDO:0000508 False Bosch-Boonstra-Schaaf optic atrophy syndrome syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0014320 MONDO:0003847 False Bosch-Boonstra-Schaaf optic atrophy syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0014326 MONDO:0015735 False nemaline myopathy 9 severe congenital nemaline myopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014326 MONDO:0015736 False nemaline myopathy 9 intermediate nemaline myopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014326 MONDO:0015737 False nemaline myopathy 9 typical nemaline myopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014326 MONDO:0015738 False nemaline myopathy 9 childhood-onset nemaline myopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014327 MONDO:0019272 False palmoplantar keratoderma, nonepidermolytic, focal or diffuse hereditary palmoplantar keratoderma UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014329 MONDO:0015281 False atrial standstill 2 atrial standstill UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014331 MONDO:0004335 False Moyamoya disease with early-onset achalasia digestive system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014332 MONDO:0019225 False hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency disorder of gluconeogenesis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014332 MONDO:0800153 False hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency urea cycle disorder or inherited hyperammonemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014333 MONDO:0003847 False polymicrogyria, bilateral perisylvian, autosomal recessive hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014333 MONDO:0020340 False polymicrogyria, bilateral perisylvian, autosomal recessive bilateral perisylvian polymicrogyria UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014334 MONDO:0017855 False severe combined immunodeficiency due to LCK deficiency T-B- severe combined immunodeficiency UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014335 MONDO:0002254 False diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014335 MONDO:0024237 False diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome inherited neurodegenerative disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014336 MONDO:0000426 False intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0014336 MONDO:0015159 False intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014342 MONDO:0021124 False female infertility due to zona pellucida defect female infertility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014344 MONDO:0000119 False congenital heart defects, multiple types, 4 congenital heart defects, multiple types UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014344 MONDO:0020290 False congenital heart defects, multiple types, 4 familial atrioventricular septal defect UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0014345 MONDO:0700232 False retinitis pigmentosa 69 KIZ-related retinopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014347 MONDO:0800063 False short stature with microcephaly and distinctive facies primordial dwarfism and slender bone disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014348 MONDO:0019502 False intellectual disability, autosomal recessive 42 autosomal recessive non-syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0014350 MONDO:0800063 False Seckel syndrome 8 primordial dwarfism and slender bone disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014353 MONDO:0017749 False immunodeficiency 23 disorder of multiple glycosylation UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014355 MONDO:0011581 False cardiomyopathy, dilated, with wooly hair, keratoderma, and tooth agenesis arrhythmogenic cardiomyopathy with wooly hair and keratoderma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0014358 MONDO:0000508 False AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0014358 MONDO:0100172 False AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome intellectual disability, autosomal dominant UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING @@ -26474,107 +23292,199 @@ MONDO:0014360 MONDO:0018614 False developmental and epileptic encephalopathy, 21 MONDO:0014360 MONDO:0100455 False developmental and epileptic encephalopathy, 21 neonatal-onset developmental and epileptic encephalopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014361 MONDO:0000508 False autism spectrum disorder due to AUTS2 deficiency syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0014361 MONDO:0002320 False autism spectrum disorder due to AUTS2 deficiency congenital nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0014361 MONDO:0015159 False autism spectrum disorder due to AUTS2 deficiency multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014362 MONDO:0003847 False chromosome 16 inversion, 0.45-Mb hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014362 MONDO:0043678 False chromosome 16 inversion, 0.45-Mb chromosome inversion disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014362 MONDO:0700023 False chromosome 16 inversion, 0.45-Mb chromosome 16 disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014368 MONDO:0020573 False melanoma, cutaneous malignant, susceptibility to, 10 inherited disease susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014369 MONDO:0000426 False postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0014369 MONDO:0002254 False postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0014369 MONDO:0018234 False postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome dysostosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0014369 MONDO:0018762 False postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome non-acquired combined pituitary hormone deficiency UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014369 MONDO:0019054 False postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome congenital limb malformation UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014371 MONDO:0002320 False developmental and epileptic encephalopathy, 23 congenital nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0014371 MONDO:0015159 False developmental and epileptic encephalopathy, 23 multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014373 MONDO:0019006 False nephrotic syndrome, type 10 familial idiopathic steroid-resistant nephrotic syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014375 MONDO:0005020 False congenital diarrhea 7 with exudative enteropathy intestinal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0014376 MONDO:0000426 False intellectual disability, autosomal dominant 27 autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0014377 MONDO:0018614 False developmental and epileptic encephalopathy, 24 undetermined early-onset epileptic encephalopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014377 MONDO:0100455 False developmental and epileptic encephalopathy, 24 neonatal-onset developmental and epileptic encephalopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014379 MONDO:0000508 False ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0014379 MONDO:0002320 False ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder congenital nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0014379 MONDO:0015159 False ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014379 MONDO:0100172 False ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder intellectual disability, autosomal dominant UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0014380 MONDO:0018230 False colobomatous microphthalmia-rhizomelic dysplasia syndrome skeletal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014382 MONDO:0015159 False Tatton-Brown-Rahman overgrowth syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014382 MONDO:0018230 False Tatton-Brown-Rahman overgrowth syndrome skeletal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014384 MONDO:0018914 False hypotrichosis 12 hypotrichosis simplex UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014385 MONDO:0015048 False amelogenesis imperfecta hypomaturation type 2A5 amelogenesis imperfecta type 2 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014386 MONDO:0021181 False platelet-type bleeding disorder 18 inherited blood coagulation disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014387 MONDO:0800448 False leukoencephalopathy, progressive, with ovarian failure leukoencephalopathy with vanishing white matter UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0014388 MONDO:0021147 False familial median cleft of the upper and lower lips disorder of development or morphogenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014389 MONDO:0002412 False polyglucosan body myopathy 1 with or without immunodeficiency disorder of glycogen metabolism UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0014390 MONDO:0008686 False hypotrichosis 13 isolated familial wooly hair disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0014391 MONDO:0044201 False severe combined immunodeficiency due to CTPS1 deficiency T+ B+ severe combined immunodeficiency UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014392 MONDO:0018614 False developmental and epileptic encephalopathy, 25 undetermined early-onset epileptic encephalopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014392 MONDO:0100455 False developmental and epileptic encephalopathy, 25 neonatal-onset developmental and epileptic encephalopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014395 MONDO:0030923 False frontotemporal dementia and/or amyotrophic lateral sclerosis 2 frontotemporal dementia and/or amyotrophic lateral sclerosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0014399 MONDO:0021190 False ataxia-telangiectasia-like disorder 2 DNA repair disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014401 MONDO:0002254 False tall stature-scoliosis-macrodactyly of the great toes syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0014401 MONDO:0018230 False tall stature-scoliosis-macrodactyly of the great toes syndrome skeletal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014402 MONDO:0020087 False severe neurodegenerative syndrome with lipodystrophy hereditary lipodystrophy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014402 MONDO:0024237 False severe neurodegenerative syndrome with lipodystrophy inherited neurodegenerative disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014402 MONDO:0100198 False severe neurodegenerative syndrome with lipodystrophy Mendelian encephalopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014403 MONDO:0019824 False short stature due to GHSR deficiency non-acquired pituitary hormone deficiency UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014404 MONDO:0003847 False Webb-Dattani syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014405 MONDO:0005385 False STING-associated vasculopathy with onset in infancy vascular disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0014405 MONDO:0019751 False STING-associated vasculopathy with onset in infancy autoinflammatory syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014405 MONDO:0021166 False STING-associated vasculopathy with onset in infancy inflammatory disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014405 MONDO:0023603 False STING-associated vasculopathy with onset in infancy hereditary disorder of connective tissue UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014410 MONDO:0019792 False spinocerebellar ataxia type 37 autosomal dominant cerebellar ataxia type I UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014412 MONDO:0001336 False hyperlipoproteinemia, type 1D familial hyperlipidemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0014412 MONDO:0006025 False hyperlipoproteinemia, type 1D autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0014412 MONDO:0015905 False hyperlipoproteinemia, type 1D syndromic dyslipidemia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014412 MONDO:0018637 False hyperlipoproteinemia, type 1D familial chylomicronemia syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0014413 MONDO:0015159 False orofaciodigital syndrome type 14 multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014414 MONDO:0002334 False STAT3-related early-onset multisystem autoimmune disease hematopoietic and lymphoid system neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014415 MONDO:0003847 False kallikrein, decreased urinary activity of hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014416 MONDO:0003847 False ACTH-independent macronodular adrenal hyperplasia 2 hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0014416 MONDO:0009049 False ACTH-independent macronodular adrenal hyperplasia 2 Cushing syndrome due to macronodular adrenal hyperplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0014417 MONDO:0018117 False spinocerebellar ataxia type 38 disorder of phospholipids, sphingolipids and fatty acids biosynthesis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014417 MONDO:0019793 False spinocerebellar ataxia type 38 autosomal dominant cerebellar ataxia type III UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014418 MONDO:0015705 False myopathy, centronuclear, 5 autosomal recessive centronuclear myopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0014419 MONDO:0003847 False ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014419 MONDO:0020022 False ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome central nervous system malformation UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014420 MONDO:0003847 False short stature due to primary acid-labile subunit deficiency hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014420 MONDO:0015892 False short stature due to primary acid-labile subunit deficiency growth hormone insensitivity syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014421 MONDO:0002525 False glucocorticoid resistance inherited lipid metabolism disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014421 MONDO:0015898 False glucocorticoid resistance adrenogenital syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014423 MONDO:0017855 False severe combined immunodeficiency due to DNA-PKcs deficiency T-B- severe combined immunodeficiency UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014429 MONDO:0019146 False autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency inherited susceptibility to mycobacterial diseases UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014431 MONDO:0000816 False LIPE-related familial partial lipodystrophy abdominal obesity-metabolic syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS +MONDO:0014437 MONDO:0700236 False Bardet-Biedl syndrome 9 BBS9-related ciliopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014438 MONDO:0700237 False Bardet-Biedl syndrome 10 BBS10-related ciliopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014439 MONDO:0002320 False Bardet-Biedl syndrome 11 congenital nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0014439 MONDO:0016153 False Bardet-Biedl syndrome 11 qualitative or quantitative defects of TRIM32 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014442 MONDO:0100451 False Bardet-Biedl syndrome 14 CEP290-related ciliopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014448 MONDO:0003847 False hyperthyroxinemia, familial dysalbuminemic hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014448 MONDO:0004425 False hyperthyroxinemia, familial dysalbuminemic hyperthyroidism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014448 MONDO:0005333 False hyperthyroxinemia, familial dysalbuminemic hyperthyroxinemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014449 MONDO:0003847 False congenital analbuminemia hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014449 MONDO:0009332 False congenital analbuminemia congenital hematological disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014452 MONDO:0018060 False familial dysfibrinogenemia congenital fibrinogen deficiency UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014453 MONDO:0018338 False immunodeficiency 36 activated PI3K-delta syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014455 MONDO:0015514 False cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome hereditary endocrine growth disease UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014455 MONDO:0016387 False cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome mitochondrial oxidative phosphorylation disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014455 MONDO:0016761 False cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome spondyloepiphyseal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014455 MONDO:0020127 False cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome hereditary peripheral neuropathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014456 MONDO:0028226 False autosomal recessive severe congenital neutropenia due to JAGN1 deficiency autosomal recessive severe congenital neutropenia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014458 MONDO:0018911 False Fanconi renotubular syndrome 4 with maturity-onset diabetes of the young maturity-onset diabetes of the young UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS MONDO:0014459 MONDO:0019713 False Adams-Oliver syndrome 5 non-syndromic limb reduction defect UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014460 MONDO:0017672 False nail and teeth abnormalities-marginal palmoplantar keratoderma-oral hyperpigmentation syndrome focal palmoplantar keratoderma UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014460 MONDO:0019287 False nail and teeth abnormalities-marginal palmoplantar keratoderma-oral hyperpigmentation syndrome ectodermal dysplasia syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0014460 MONDO:0019289 False nail and teeth abnormalities-marginal palmoplantar keratoderma-oral hyperpigmentation syndrome hyperpigmentation of the skin UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014461 MONDO:0018800 False hypogonadotropic hypogonadism 22 with or without anosmia Kallmann syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0014464 MONDO:0018117 False progressive encephalopathy with leukodystrophy due to DECR deficiency disorder of phospholipids, sphingolipids and fatty acids biosynthesis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014464 MONDO:0019046 False progressive encephalopathy with leukodystrophy due to DECR deficiency leukodystrophy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0014467 MONDO:0016387 False Charcot-Marie-Tooth disease recessive intermediate D mitochondrial oxidative phosphorylation disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014467 MONDO:0017058 False Charcot-Marie-Tooth disease recessive intermediate D autosomal recessive intermediate Charcot-Marie-Tooth disease UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014471 MONDO:0000732 False mitochondrial proton-transporting ATP synthase complex deficiency combined oxidative phosphorylation deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS +MONDO:0014472 MONDO:0017953 False periodic fever-infantile enterocolitis-autoinflammatory syndrome hereditary periodic fever syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014473 MONDO:0019342 False microcephaly 13, primary, autosomal recessive Seckel syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS MONDO:0014473 MONDO:0800063 False microcephaly 13, primary, autosomal recessive primordial dwarfism and slender bone disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014474 MONDO:0100530 False autosomal recessive limb-girdle muscular dystrophy type 2U myopathy caused by variation in CRPPA UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014475 MONDO:0019792 False spinocerebellar ataxia type 40 autosomal dominant cerebellar ataxia type I UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014477 MONDO:0018614 False developmental and epileptic encephalopathy, 26 undetermined early-onset epileptic encephalopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014477 MONDO:0100455 False developmental and epileptic encephalopathy, 26 neonatal-onset developmental and epileptic encephalopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014479 MONDO:0019212 False porokeratosis 8, disseminated superficial actinic type disseminated superficial actinic porokeratosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014480 MONDO:0016674 False 46,XY sex reversal 9 46,XY partial gonadal dysgenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014482 MONDO:0000426 False intellectual disability, autosomal dominant 29 autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0014482 MONDO:0002254 False intellectual disability, autosomal dominant 29 syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0014483 MONDO:0019118 False retinal dystrophy with inner retinal dysfunction and ganglion cell anomalies inherited retinal dystrophy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014485 MONDO:0016396 False pontocerebellar hypoplasia, type 1C pontocerebellar hypoplasia type 1 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0014486 MONDO:0000426 False intellectual disability, autosomal dominant 30 autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0014486 MONDO:0002254 False intellectual disability, autosomal dominant 30 syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0014487 MONDO:0002254 False congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0014487 MONDO:0005046 False congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome immune system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0014487 MONDO:0020099 False congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome inherited sideroblastic anemia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0014488 MONDO:0005148 False diabetes mellitus, noninsulin-dependent, 5 type 2 diabetes mellitus UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0014488 MONDO:0015967 False diabetes mellitus, noninsulin-dependent, 5 monogenic diabetes UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014489 MONDO:0015152 False limb-girdle muscular dystrophy due to POMK deficiency autosomal recessive limb-girdle muscular dystrophy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS +MONDO:0014489 MONDO:0016155 False limb-girdle muscular dystrophy due to POMK deficiency qualitative or quantitative defects of protein involved in O-glycosylation of alpha-dystroglycan UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014490 MONDO:0019223 False ketoacidosis due to monocarboxylate transporter-1 deficiency disorder of fatty acid and ketone body metabolism UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014491 MONDO:0003778 False immunodeficiency 37 inborn error of immunity UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0014492 MONDO:0017672 False wooly hair-palmoplantar keratoderma syndrome focal palmoplantar keratoderma UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014493 MONDO:0017979 False autoimmune lymphoproliferative syndrome due to CTLA4 haploinsuffiency autoimmune lymphoproliferative syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014494 MONDO:0100171 False psoriasis 15, pustular, susceptibility to psoriasis, susceptibility to UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014495 MONDO:0002254 False retinitis pigmentosa-juvenile cataract-short stature-intellectual disability syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014495 MONDO:0003847 False retinitis pigmentosa-juvenile cataract-short stature-intellectual disability syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014497 MONDO:0002254 False polyendocrine-polyneuropathy syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014497 MONDO:0015770 False polyendocrine-polyneuropathy syndrome congenital hypogonadotropic hypogonadism UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014500 MONDO:0003847 False atrial conduction disease hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014500 MONDO:0005449 False atrial conduction disease conduction system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014501 MONDO:0003004 False macular degeneration, early-onset macular degeneration UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014501 MONDO:0019118 False macular degeneration, early-onset inherited retinal dystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014502 MONDO:0019146 False Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency inherited susceptibility to mycobacterial diseases UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014503 MONDO:0020043 False autosomal recessive spinocerebellar ataxia 17 autosomal recessive congenital cerebellar ataxia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014505 MONDO:0018097 False developmental and epileptic encephalopathy, 27 West syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0014507 MONDO:0015159 False Catel-Manzke syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014507 MONDO:0018230 False Catel-Manzke syndrome skeletal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014508 MONDO:0011979 False vitelliform macular dystrophy 4 adult-onset foveomacular vitelliform dystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014509 MONDO:0011979 False vitelliform macular dystrophy 5 adult-onset foveomacular vitelliform dystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014509 MONDO:0700242 False vitelliform macular dystrophy 5 IMPG2-related dominant retinopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014510 MONDO:0005328 False fatty acyl-CoA reductase 1 deficiency eye disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0014510 MONDO:0019701 False fatty acyl-CoA reductase 1 deficiency chondrodysplasia punctata UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0014510 MONDO:0100275 False fatty acyl-CoA reductase 1 deficiency fatty acyl-CoA reductase defects UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014511 MONDO:0018993 False Charcot-Marie-Tooth disease axonal type 2S Charcot-Marie-Tooth disease type 2 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0014512 MONDO:0000426 False PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0014513 MONDO:0015735 False nemaline myopathy 10 severe congenital nemaline myopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014513 MONDO:0015737 False nemaline myopathy 10 typical nemaline myopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014515 MONDO:0005150 False macular dystrophy with central cone involvement age-related macular degeneration UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0014516 MONDO:0006025 False microcephaly and chorioretinopathy 2 autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0014519 MONDO:0020573 False chronic mountain sickness, susceptibility to inherited disease susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014520 MONDO:0019852 False 46,XX ovarian dysgenesis-short stature syndrome inherited primary ovarian failure UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0014521 MONDO:0005395 False progressive myoclonic epilepsy type 7 movement disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0014522 MONDO:0019200 False retinal dystrophy and obesity retinitis pigmentosa UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0014523 MONDO:0100309 False juvenile-onset diabetes mellitus-central and peripheral neurodegeneration syndrome hereditary ataxia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014526 MONDO:0100314 False polyglucosan body myopathy type 2 GYG1-related disorder of glycogen metabolism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014527 MONDO:0015356 False progeroid features-hepatocellular carcinoma predisposition syndrome hereditary neoplastic syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014527 MONDO:0021147 False progeroid features-hepatocellular carcinoma predisposition syndrome disorder of development or morphogenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014528 MONDO:0002254 False chronic atrial and intestinal dysrhythmia syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0014528 MONDO:0003847 False chronic atrial and intestinal dysrhythmia hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0014528 MONDO:0005020 False chronic atrial and intestinal dysrhythmia intestinal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0014529 MONDO:0002320 False cerebellar-facial-dental syndrome congenital nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0014529 MONDO:0003847 False cerebellar-facial-dental syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0014529 MONDO:0015159 False cerebellar-facial-dental syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014529 MONDO:0020022 False cerebellar-facial-dental syndrome central nervous system malformation UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014530 MONDO:0018189 False autosomal recessive spinocerebellar ataxia 18 autosomal recessive cerebellar ataxia - pyramidal signs - nystagmus - oculomotor apraxia syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014532 MONDO:0009637 False autosomal dominant mitochondrial myopathy with exercise intolerance inborn mitochondrial myopathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0014532 MONDO:0016387 False autosomal dominant mitochondrial myopathy with exercise intolerance mitochondrial oxidative phosphorylation disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014532 MONDO:0020123 False autosomal dominant mitochondrial myopathy with exercise intolerance metabolic myopathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014533 MONDO:0018614 False developmental and epileptic encephalopathy, 28 undetermined early-onset epileptic encephalopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014533 MONDO:0100455 False developmental and epileptic encephalopathy, 28 neonatal-onset developmental and epileptic encephalopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014534 MONDO:0015204 False lissencephaly 6 with microcephaly microlissencephaly UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0014535 MONDO:0003847 False hyperproinsulinemia hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014536 MONDO:0011071 False thrombocytopenia 5 hereditary thrombocytopenia and hematologic cancer predisposition syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014538 MONDO:0002320 False fibrosis of extraocular muscles, congenital, 5 congenital nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0014540 MONDO:0015047 False amelogenesis imperfecta type 1H amelogenesis imperfecta type 1 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014542 MONDO:0002320 False congenital myasthenic syndrome 15 congenital nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0014543 MONDO:0011933 False congenital myasthenic syndrome 14 ALG2-congenital disorder of glycosylation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS MONDO:0014544 MONDO:0800064 False osteogenesis imperfecta type 16 osteogenesis imperfecta and a reduction of bone mineral density. UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014545 MONDO:0018117 False progressive myoclonic epilepsy type 8 disorder of phospholipids, sphingolipids and fatty acids biosynthesis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014546 MONDO:0016199 False myopathy due to calsequestrin and SERCA1 protein overload qualitative or quantitative defects of protein SERCA1 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014546 MONDO:0700223 False myopathy due to calsequestrin and SERCA1 protein overload hereditary skeletal muscle disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014551 MONDO:0003847 False short stature with nonspecific skeletal abnormalities hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014552 MONDO:0002320 False lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome congenital nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014552 MONDO:0015168 False lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome arthrogryposis multiplex congenita UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0014552 MONDO:0020022 False lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome central nervous system malformation UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014553 MONDO:0003847 False Tenorio syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014555 MONDO:0010033 False peeling skin syndrome type A generalized peeling skin syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014556 MONDO:0003847 False congenital contractures of the limbs and face, hypotonia, and developmental delay hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0014557 MONDO:0020047 False ataxia - oculomotor apraxia type 4 autosomal recessive syndromic cerebellar ataxia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014557 MONDO:0020127 False ataxia - oculomotor apraxia type 4 hereditary peripheral neuropathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014557 MONDO:0044807 False ataxia - oculomotor apraxia type 4 inherited dystonia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0014558 MONDO:0000508 False autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0014558 MONDO:0002320 False autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome congenital nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0014558 MONDO:0005267 False autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome heart disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0014558 MONDO:0015159 False autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014558 MONDO:0015338 False autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome syndromic craniosynostosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014558 MONDO:0100172 False autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome intellectual disability, autosomal dominant UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0014559 MONDO:0005395 False progressive essential tremor-speech impairment-facial dysmorphism-intellectual disability-abnormal behavior syndrome movement disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS @@ -26584,11 +23494,17 @@ MONDO:0014563 MONDO:0003847 False mitochondrial short-chain Enoyl-Coa hydratase MONDO:0014563 MONDO:0044970 False mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency mitochondrial disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014564 MONDO:0100372 False congenital bile acid synthesis defect 5 disorder of peroxisomal transporter UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014565 MONDO:0011060 False cataract 43 early-onset non-syndromic cataract UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0014566 MONDO:0018993 False Charcot-Marie-Tooth disease axonal type 2U Charcot-Marie-Tooth disease type 2 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0014567 MONDO:0015150 False glutamate pyruvate transaminase 2 deficiency complex hereditary spastic paraplegia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014568 MONDO:0015149 False hereditary spastic paraplegia 73 pure hereditary spastic paraplegia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014573 MONDO:0800064 False Cole-Carpenter syndrome 2 osteogenesis imperfecta and a reduction of bone mineral density. UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014574 MONDO:0002051 False peeling skin-leukonuchia-acral punctate keratoses-cheilitis-knuckle pads syndrome integumentary system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014574 MONDO:0002254 False peeling skin-leukonuchia-acral punctate keratoses-cheilitis-knuckle pads syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014574 MONDO:0003847 False peeling skin-leukonuchia-acral punctate keratoses-cheilitis-knuckle pads syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014575 MONDO:0800064 False Singleton-Merten syndrome 2 osteogenesis imperfecta and a reduction of bone mineral density. UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014576 MONDO:0018424 False lipoyl transferase 1 deficiency inherited lipoic acid biosynthesis defect UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014578 MONDO:0020344 False congenital myasthenic syndrome 17 postsynaptic congenital myasthenic syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014580 MONDO:0015802 False intellectual disability, autosomal dominant 33 autosomal dominant non-syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0014581 MONDO:0020344 False congenital myasthenic syndrome 2A postsynaptic congenital myasthenic syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014582 MONDO:0020344 False congenital myasthenic syndrome 2C postsynaptic congenital myasthenic syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014583 MONDO:0020344 False congenital myasthenic syndrome 3A postsynaptic congenital myasthenic syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -26597,49 +23513,91 @@ MONDO:0014585 MONDO:0020344 False congenital myasthenic syndrome 3C postsynaptic MONDO:0014586 MONDO:0020344 False congenital myasthenic syndrome 4B postsynaptic congenital myasthenic syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014587 MONDO:0020344 False congenital myasthenic syndrome 9 postsynaptic congenital myasthenic syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014588 MONDO:0020344 False congenital myasthenic syndrome 11 postsynaptic congenital myasthenic syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014589 MONDO:0018911 False maturity-onset diabetes of the young type 13 maturity-onset diabetes of the young UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS MONDO:0014590 MONDO:0002320 False congenital myasthenic syndrome 18 congenital nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0014591 MONDO:0008389 False autosomal dominant Robinow syndrome 2 autosomal dominant Robinow syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014593 MONDO:0018614 False developmental and epileptic encephalopathy, 29 undetermined early-onset epileptic encephalopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014593 MONDO:0100455 False developmental and epileptic encephalopathy, 29 neonatal-onset developmental and epileptic encephalopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014595 MONDO:0016022 False developmental and epileptic encephalopathy, 30 early myoclonic encephalopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0014595 MONDO:0018097 False developmental and epileptic encephalopathy, 30 West syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0014597 MONDO:0003778 False immunodeficiency 39 inborn error of immunity UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0014598 MONDO:0016532 False developmental and epileptic encephalopathy, 31 Lennox-Gastaut syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS MONDO:0014598 MONDO:0018614 False developmental and epileptic encephalopathy, 31 undetermined early-onset epileptic encephalopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014598 MONDO:0100455 False developmental and epileptic encephalopathy, 31 neonatal-onset developmental and epileptic encephalopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014599 MONDO:0015802 False intellectual disability, autosomal dominant 34 autosomal dominant non-syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0014601 MONDO:0002320 False autosomal recessive spinocerebellar ataxia 20 congenital nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0014601 MONDO:0015159 False autosomal recessive spinocerebellar ataxia 20 multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014601 MONDO:0020022 False autosomal recessive spinocerebellar ataxia 20 central nervous system malformation UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014602 MONDO:0000508 False intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0014602 MONDO:0002320 False intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome congenital nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0014602 MONDO:0100172 False intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome intellectual disability, autosomal dominant UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0014602 MONDO:0015159 False intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014604 MONDO:0008199 False Parkinson disease 21 late-onset Parkinson disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS +MONDO:0014605 MONDO:0000426 False microcephaly-corpus callosum hypoplasia-intellectual disability-facial dysmorphism syndrome autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0014605 MONDO:0002254 False microcephaly-corpus callosum hypoplasia-intellectual disability-facial dysmorphism syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0014605 MONDO:0015159 False microcephaly-corpus callosum hypoplasia-intellectual disability-facial dysmorphism syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014606 MONDO:0000508 False intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0014606 MONDO:0002320 False intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome congenital nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0014606 MONDO:0015159 False intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014607 MONDO:0018614 False developmental and epileptic encephalopathy, 32 undetermined early-onset epileptic encephalopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014607 MONDO:0100455 False developmental and epileptic encephalopathy, 32 neonatal-onset developmental and epileptic encephalopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014608 MONDO:0002051 False mandibulofacial dysostosis with alopecia integumentary system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0014608 MONDO:0002254 False mandibulofacial dysostosis with alopecia syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0014608 MONDO:0015483 False mandibulofacial dysostosis with alopecia mandibulofacial dysostosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014608 MONDO:0018234 False mandibulofacial dysostosis with alopecia dysostosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0014608 MONDO:0018751 False mandibulofacial dysostosis with alopecia hereditary otorhinolaryngologic disease UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014609 MONDO:0015159 False cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014609 MONDO:0018230 False cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome skeletal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014611 MONDO:0004884 False multiple mitochondrial dysfunctions syndrome 4 eye degenerative disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0014611 MONDO:0019046 False multiple mitochondrial dysfunctions syndrome 4 leukodystrophy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS +MONDO:0014613 MONDO:0800467 False pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 dyskeratosis congenita and related telomere biology disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014614 MONDO:0002320 False congenital stationary night blindness 1G congenital nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0014614 MONDO:0006025 False congenital stationary night blindness 1G autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0014615 MONDO:0002470 False trichothiodystrophy 2, photosensitive photosensitive trichothiodystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0014619 MONDO:0002470 False trichothiodystrophy 3, photosensitive photosensitive trichothiodystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0014620 MONDO:0000903 False myoclonic dystonia 26 myoclonus-dystonia syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0014622 MONDO:0017672 False isolated focal non-epidermolytic palmoplantar keratoderma focal palmoplantar keratoderma UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014624 MONDO:0003847 False Brown syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0014624 MONDO:0004753 False Brown syndrome mechanical strabismus UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0014625 MONDO:0018614 False developmental and epileptic encephalopathy, 33 undetermined early-onset epileptic encephalopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014625 MONDO:0100455 False developmental and epileptic encephalopathy, 33 neonatal-onset developmental and epileptic encephalopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014626 MONDO:0019793 False spinocerebellar ataxia type 41 autosomal dominant cerebellar ataxia type III UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014627 MONDO:0000479 False dystonia 27 segmental dystonia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0014627 MONDO:0015990 False dystonia 27 focal, segmental or multifocal dystonia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014628 MONDO:0700007 False basal ganglia calcification, idiopathic, 6 idiopathic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014629 MONDO:0003847 False autoimmune interstitial lung disease-arthritis syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0014629 MONDO:0005087 False autoimmune interstitial lung disease-arthritis syndrome respiratory system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0014630 MONDO:0016362 False familial adenomatous polyposis 3 attenuated familial adenomatous polyposis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014631 MONDO:0018101 False hypomagnesemia, seizures, and intellectual disability familial primary hypomagnesemia with normocalciuria and normocalcemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014633 MONDO:0016025 False myoclonic-atonic epilepsy myoclonic-astatic epilepsy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014634 MONDO:0016674 False 46,XY sex reversal 10 46,XY partial gonadal dysgenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014640 MONDO:0017160 False frontotemporal dementia and/or amyotrophic lateral sclerosis 3 behavioral variant of frontotemporal dementia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014640 MONDO:0030923 False frontotemporal dementia and/or amyotrophic lateral sclerosis 3 frontotemporal dementia and/or amyotrophic lateral sclerosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0014640 MONDO:0800464 False frontotemporal dementia and/or amyotrophic lateral sclerosis 3 SQSTM1-related multisystem proteinopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014641 MONDO:0030923 False frontotemporal dementia and/or amyotrophic lateral sclerosis 4 frontotemporal dementia and/or amyotrophic lateral sclerosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0014643 MONDO:0003847 False congenital cataract-microcephaly-nevus flammeus simplex-severe intellectual disability syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014643 MONDO:0015159 False congenital cataract-microcephaly-nevus flammeus simplex-severe intellectual disability syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014644 MONDO:0015150 False hereditary spastic paraplegia 74 complex hereditary spastic paraplegia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014645 MONDO:0003778 False BENTA disease inborn error of immunity UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014647 MONDO:0002320 False developmental and epileptic encephalopathy, 50 congenital nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0014647 MONDO:0005500 False developmental and epileptic encephalopathy, 50 congenital disorder of glycosylation type I UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS +MONDO:0014647 MONDO:0017749 False developmental and epileptic encephalopathy, 50 disorder of multiple glycosylation UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014647 MONDO:0019238 False developmental and epileptic encephalopathy, 50 inborn disorder of pyrimidine metabolism UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0014648 MONDO:0019502 False Al-Raqad syndrome autosomal recessive non-syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0014651 MONDO:0018237 False acrofacial dysostosis Cincinnati type acrofacial dysostosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0014656 MONDO:0018002 False progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 2 adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014658 MONDO:0000426 False severe achondroplasia-developmental delay-acanthosis nigricans syndrome autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0014658 MONDO:0019685 False severe achondroplasia-developmental delay-acanthosis nigricans syndrome FGFR3-related chondrodysplasia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014662 MONDO:0002320 False congenital insensitivity to pain-hypohidrosis syndrome congenital nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0014665 MONDO:0018993 False Charcot-Marie-Tooth disease axonal type 2V Charcot-Marie-Tooth disease type 2 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0014667 MONDO:0015487 False cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 3 fatal infantile encephalocardiomyopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0014668 MONDO:0015487 False cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 4 fatal infantile encephalocardiomyopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0014671 MONDO:0002316 False neuropathy, hereditary motor and sensory, type 6B motor peripheral neuropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014671 MONDO:0019551 False neuropathy, hereditary motor and sensory, type 6B hereditary motor and sensory neuropathy type 6 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014672 MONDO:0800064 False osteogenesis imperfecta type 17 osteogenesis imperfecta and a reduction of bone mineral density. UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014673 MONDO:0011060 False cataract 44 early-onset non-syndromic cataract UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0014674 MONDO:0018911 False maturity-onset diabetes of the young type 14 maturity-onset diabetes of the young UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS MONDO:0014676 MONDO:0021106 False Emery-Dreifuss muscular dystrophy 3, autosomal recessive laminopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014677 MONDO:0018852 False achromatopsia 7 achromatopsia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0014677 MONDO:0100447 False achromatopsia 7 ATF6-related retinopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014679 MONDO:0003847 False polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014679 MONDO:0020340 False polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis bilateral perisylvian polymicrogyria UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -26649,55 +23607,101 @@ MONDO:0014681 MONDO:0017895 False thyroid cancer, nonmedullary, 4 familial papil MONDO:0014682 MONDO:0005034 False thyroid cancer, nonmedullary, 5 thyroid gland follicular carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014682 MONDO:0017895 False thyroid cancer, nonmedullary, 5 familial papillary or follicular thyroid carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014686 MONDO:0002254 False short stature, microcephaly, and endocrine dysfunction syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014686 MONDO:0005039 False short stature, microcephaly, and endocrine dysfunction reproductive system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014686 MONDO:0005151 False short stature, microcephaly, and endocrine dysfunction endocrine system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014686 MONDO:0800063 False short stature, microcephaly, and endocrine dysfunction primordial dwarfism and slender bone disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014688 MONDO:0018342 False short-rib thoracic dysplasia 14 with polydactyly Joubert syndrome with Jeune asphyxiating thoracic dystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014689 MONDO:0019952 False Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome congenital myopathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS +MONDO:0014690 MONDO:0000426 False dyskeratosis congenita, autosomal dominant 6 autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0014690 MONDO:0060782 False dyskeratosis congenita, autosomal dominant 6 premalignant hematological system disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014694 MONDO:0010180 False spondylocostal dysostosis 6, autosomal recessive autosomal recessive spondylocostal dysostosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014695 MONDO:0100242 False glioma susceptibility 9 glioma susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0014698 MONDO:0003847 False microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014698 MONDO:0005328 False microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome eye disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014699 MONDO:0100172 False intellectual disability, autosomal dominant 40 intellectual disability, autosomal dominant UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0014700 MONDO:0018681 False Au-Kline syndrome neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-hip dysplasia syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014700 MONDO:0100500 False Au-Kline syndrome Mendelian neurodevelopmental disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014701 MONDO:0016761 False spondyloepiphyseal dysplasia, Stanescu type spondyloepiphyseal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0014701 MONDO:0022800 False spondyloepiphyseal dysplasia, Stanescu type type 2 collagenopathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014702 MONDO:0015150 False autosomal recessive complex spastic paraplegia type 9B complex hereditary spastic paraplegia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014702 MONDO:0100126 False autosomal recessive complex spastic paraplegia type 9B P5CS deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014703 MONDO:0019713 False Adams-Oliver syndrome 6 non-syndromic limb reduction defect UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014704 MONDO:0018230 False skeletal overgrowth-craniofacial dysmorphism-hyperelastic skin-white matter lesions syndrome skeletal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014705 MONDO:0018971 False craniosynostosis 6 isolated oxycephaly UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014706 MONDO:0015327 False cutis laxa, autosomal dominant 3 developmental anomaly of metabolic origin UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014706 MONDO:0019571 False cutis laxa, autosomal dominant 3 autosomal dominant cutis laxa UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0014706 MONDO:0100126 False cutis laxa, autosomal dominant 3 P5CS deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014707 MONDO:0016964 False 14q32 duplication syndrome partial duplication of the long arm of chromosome 14 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014708 MONDO:0700021 False ring chromosome 14 chromosome 14 disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014708 MONDO:0700091 False ring chromosome 14 ring chromosome disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014710 MONDO:0019146 False autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency inherited susceptibility to mycobacterial diseases UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014711 MONDO:0018993 False autosomal dominant Charcot-Marie-Tooth disease type 2W Charcot-Marie-Tooth disease type 2 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0014713 MONDO:0019212 False porokeratosis 9, multiple types disseminated superficial actinic porokeratosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014714 MONDO:0002254 False progressive microcephaly-seizures-cortical blindness-developmental delay syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014714 MONDO:0003847 False progressive microcephaly-seizures-cortical blindness-developmental delay syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014714 MONDO:0021147 False progressive microcephaly-seizures-cortical blindness-developmental delay syndrome disorder of development or morphogenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014715 MONDO:0003778 False primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection inborn error of immunity UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0014716 MONDO:0002320 False macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome congenital nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014716 MONDO:0003847 False macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014716 MONDO:0015159 False macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014716 MONDO:0100283 False macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014718 MONDO:0017385 False developmental and epileptic encephalopathy, 34 malignant migrating partial seizures of infancy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014718 MONDO:0100455 False developmental and epileptic encephalopathy, 34 neonatal-onset developmental and epileptic encephalopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014719 MONDO:0019236 False developmental and epileptic encephalopathy, 35 inborn disorder of purine metabolism UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014719 MONDO:0024237 False developmental and epileptic encephalopathy, 35 inherited neurodegenerative disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014720 MONDO:0020250 False autosomal dominant optic atrophy plus syndrome autosomal dominant optic atrophy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014720 MONDO:0044970 False autosomal dominant optic atrophy plus syndrome mitochondrial disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014722 MONDO:0002254 False Roifman syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014722 MONDO:0005046 False Roifman syndrome immune system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014722 MONDO:0016761 False Roifman syndrome spondyloepiphyseal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014722 MONDO:0800063 False Roifman syndrome primordial dwarfism and slender bone disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014723 MONDO:0002254 False PMP22-RAI1 contiguous gene duplication syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014723 MONDO:0003847 False PMP22-RAI1 contiguous gene duplication syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014723 MONDO:0016967 False PMP22-RAI1 contiguous gene duplication syndrome partial duplication of the long arm of chromosome 17 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014725 MONDO:0018162 False spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome neurometabolic disorder due to serine deficiency UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014726 MONDO:0018993 False Charcot-Marie-Tooth disease axonal type 2X Charcot-Marie-Tooth disease type 2 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0014729 MONDO:0015150 False hereditary spastic paraplegia 75 complex hereditary spastic paraplegia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014731 MONDO:0015286 False seizures-scoliosis-macrocephaly syndrome congenital disorder of glycosylation UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014733 MONDO:0016387 False Charcot-Marie-Tooth disease type 4K mitochondrial oxidative phosphorylation disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014733 MONDO:0018995 False Charcot-Marie-Tooth disease type 4K Charcot-Marie-Tooth disease type 4 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0014734 MONDO:0020573 False epilepsy, idiopathic generalized, susceptibility to, 14 inherited disease susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014735 MONDO:0018993 False Charcot-Marie-Tooth disease type 2Y Charcot-Marie-Tooth disease type 2 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0014736 MONDO:0018993 False Charcot-Marie-Tooth disease axonal type 2Z Charcot-Marie-Tooth disease type 2 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0014737 MONDO:0003689 False dehydrated hereditary stomatocytosis 2 familial hemolytic anemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0014737 MONDO:0017910 False dehydrated hereditary stomatocytosis 2 dehydrated hereditary stomatocytosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0014741 MONDO:0003847 False DeSanto-Shinawi syndrome due to WAC point mutation hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014741 MONDO:0018760 False DeSanto-Shinawi syndrome due to WAC point mutation DeSanto-Shinawi syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014742 MONDO:0008199 False Parkinson disease 22, autosomal dominant late-onset Parkinson disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS MONDO:0014743 MONDO:0100265 False rhizomelic chondrodysplasia punctata type 5 peroxisome biogenesis disorder due to PEX5 defect in the PEX7-binding domain UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014744 MONDO:0002254 False acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0014744 MONDO:0020047 False acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome autosomal recessive syndromic cerebellar ataxia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014744 MONDO:0020683 False acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome acute disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014745 MONDO:0020344 False congenital myasthenic syndrome 19 postsynaptic congenital myasthenic syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014746 MONDO:0002320 False SLC39A8-CDG congenital nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0014746 MONDO:0015159 False SLC39A8-CDG multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014746 MONDO:0015327 False SLC39A8-CDG developmental anomaly of metabolic origin UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014746 MONDO:0017740 False SLC39A8-CDG disorder of protein N-glycosylation UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014746 MONDO:0020022 False SLC39A8-CDG central nervous system malformation UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014747 MONDO:0002254 False familial progressive retinal dystrophy-iris coloboma-congenital cataract syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014747 MONDO:0003847 False familial progressive retinal dystrophy-iris coloboma-congenital cataract syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014747 MONDO:0024458 False familial progressive retinal dystrophy-iris coloboma-congenital cataract syndrome disorder of visual system UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014748 MONDO:0015159 False progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014748 MONDO:0016761 False progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome spondyloepiphyseal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014751 MONDO:0003847 False palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014751 MONDO:0015159 False palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014752 MONDO:0019006 False nephrotic syndrome, type 11 familial idiopathic steroid-resistant nephrotic syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014755 MONDO:0007990 False skin creases, congenital symmetric circumferential, 2 multiple benign circumferential skin creases on limbs UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0014755 MONDO:0100118 False skin creases, congenital symmetric circumferential, 2 hereditary skin disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014757 MONDO:0002254 False macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014757 MONDO:0009332 False macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome congenital hematological disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014757 MONDO:0015159 False macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014757 MONDO:0018795 False macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome syndromic constitutional thrombocytopenia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014758 MONDO:0100458 False radioulnar synostosis with amegakaryocytic thrombocytopenia 2 MECOM-associated syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014764 MONDO:0002320 False spastic paraplegia-severe developmental delay-epilepsy syndrome congenital nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014764 MONDO:0015150 False spastic paraplegia-severe developmental delay-epilepsy syndrome complex hereditary spastic paraplegia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014764 MONDO:0015159 False spastic paraplegia-severe developmental delay-epilepsy syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014764 MONDO:0015653 False spastic paraplegia-severe developmental delay-epilepsy syndrome monogenic epilepsy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014765 MONDO:0003847 False wooly hair, autosomal recessive 3 hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0014765 MONDO:0008686 False wooly hair, autosomal recessive 3 isolated familial wooly hair disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0014766 MONDO:0003847 False leukodystrophy and acquired microcephaly with or without dystonia; hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014767 MONDO:0800063 False Seckel syndrome 9 primordial dwarfism and slender bone disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014769 MONDO:0003847 False inherited oocyte maturation defect hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -26707,70 +23711,122 @@ MONDO:0014773 MONDO:0000508 False cardiac anomalies - developmental delay - faci MONDO:0014773 MONDO:0002320 False cardiac anomalies - developmental delay - facial dysmorphism syndrome congenital nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014773 MONDO:0003847 False cardiac anomalies - developmental delay - facial dysmorphism syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014773 MONDO:0005267 False cardiac anomalies - developmental delay - facial dysmorphism syndrome heart disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014774 MONDO:0020573 False neuroblastoma, susceptibility to, 7 inherited disease susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014773 MONDO:0015159 False cardiac anomalies - developmental delay - facial dysmorphism syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014774 MONDO:0015356 False neuroblastoma, susceptibility to, 7 hereditary neoplastic syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014775 MONDO:0016801 False combined oxidative phosphorylation deficiency 28 mitochondrial substrate carrier disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014776 MONDO:0019793 False spinocerebellar ataxia type 42 autosomal dominant cerebellar ataxia type III UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014778 MONDO:0003847 False Lamb-Shaffer syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014781 MONDO:0006025 False combined oxidative phosphorylation deficiency 29 autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0014781 MONDO:0024237 False combined oxidative phosphorylation deficiency 29 inherited neurodegenerative disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014784 MONDO:0005267 False severe hypotonia-psychomotor developmental delay-strabismus-cardiac septal defect syndrome heart disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014784 MONDO:0019952 False severe hypotonia-psychomotor developmental delay-strabismus-cardiac septal defect syndrome congenital myopathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0014785 MONDO:0800450 False microcephaly, short stature, and impaired glucose metabolism 2 microcephaly, short stature, and impaired glucose metabolism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0014786 MONDO:0020573 False IgA nephropathy, susceptibility to, 3 inherited disease susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014787 MONDO:0002320 False severe intellectual disability-corpus callosum agenesis-facial dysmorphism-cerebellar ataxia syndrome congenital nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014787 MONDO:0003847 False severe intellectual disability-corpus callosum agenesis-facial dysmorphism-cerebellar ataxia syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014787 MONDO:0015159 False severe intellectual disability-corpus callosum agenesis-facial dysmorphism-cerebellar ataxia syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014787 MONDO:0020022 False severe intellectual disability-corpus callosum agenesis-facial dysmorphism-cerebellar ataxia syndrome central nervous system malformation UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014788 MONDO:0016333 False autosomal recessive limb-girdle muscular dystrophy type 2W familial dilated cardiomyopathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0014789 MONDO:0017749 False CCDC115-CDG disorder of multiple glycosylation UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014790 MONDO:0017749 False TMEM199-CDG disorder of multiple glycosylation UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014791 MONDO:0002254 False Luscan-Lumish syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014791 MONDO:0003847 False Luscan-Lumish syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014793 MONDO:0019240 False microcephaly-congenital cataract-psoriasiform dermatitis syndrome sterol biosynthesis disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014795 MONDO:0003847 False exercise intolerance, riboflavin-responsive hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014796 MONDO:0017279 False autosomal recessive early-onset Parkinson disease 23 young-onset Parkinson disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0014798 MONDO:0021004 False brachydactyly type A1D brachydactyly UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0014799 MONDO:0011060 False cataract 45 early-onset non-syndromic cataract UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0014800 MONDO:0016106 False progressive scapulohumeroperoneal distal myopathy progressive muscular dystrophy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014800 MONDO:0100084 False progressive scapulohumeroperoneal distal myopathy alpha-actinopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014801 MONDO:0002254 False even-plus syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014801 MONDO:0015161 False even-plus syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014801 MONDO:0016761 False even-plus syndrome spondyloepiphyseal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014803 MONDO:0017845 False spasticity-ataxia-gait anomalies syndrome spastic ataxia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0014803 MONDO:0018424 False spasticity-ataxia-gait anomalies syndrome inherited lipoic acid biosynthesis defect UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014804 MONDO:0016801 False sideroblastic anemia 3 mitochondrial substrate carrier disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014804 MONDO:0016828 False sideroblastic anemia 3 autosomal recessive sideroblastic anemia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014805 MONDO:0016894 False Hao-Fountain syndrome partial deletion of the short arm of chromosome 16 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014805 MONDO:0100500 False Hao-Fountain syndrome Mendelian neurodevelopmental disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014808 MONDO:0015170 False congenital secretory sodium diarrhea 8 congenital sodium diarrhea UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014808 MONDO:0045032 False congenital secretory sodium diarrhea 8 congenital secretory diarrhea UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014809 MONDO:0015356 False DDX41-related hematologic malignancy predisposition syndrome hereditary neoplastic syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014811 MONDO:0100500 False cerebellar atrophy, visual impairment, and psychomotor retardation; Mendelian neurodevelopmental disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014811 MONDO:0100516 False cerebellar atrophy, visual impairment, and psychomotor retardation; complex neurodevelopmental disorder with motor features UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014816 MONDO:0003847 False split-foot malformation-mesoaxial polydactyly syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014816 MONDO:0015161 False split-foot malformation-mesoaxial polydactyly syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014816 MONDO:0018234 False split-foot malformation-mesoaxial polydactyly syndrome dysostosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014816 MONDO:0019054 False split-foot malformation-mesoaxial polydactyly syndrome congenital limb malformation UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014817 MONDO:0019006 False nephrotic syndrome, type 12 familial idiopathic steroid-resistant nephrotic syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014818 MONDO:0019006 False nephrotic syndrome, type 13 familial idiopathic steroid-resistant nephrotic syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014819 MONDO:0008389 False autosomal dominant Robinow syndrome 3 autosomal dominant Robinow syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014821 MONDO:0018230 False complex lethal osteochondrodysplasia skeletal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014822 MONDO:0016913 False 15q14 microdeletion syndrome partial deletion of the long arm of chromosome 15 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014825 MONDO:0016893 False chromosome 11p13 deletion syndrome, distal partial deletion of the short arm of chromosome 11 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014827 MONDO:0015150 False autosomal recessive spastic paraplegia type 76 complex hereditary spastic paraplegia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014831 MONDO:0023603 False progeroid and marfanoid aspect-lipodystrophy syndrome hereditary disorder of connective tissue UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014832 MONDO:0000508 False intellectual disability, autosomal recessive 53 syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014832 MONDO:0002320 False intellectual disability, autosomal recessive 53 congenital nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014832 MONDO:0015905 False intellectual disability, autosomal recessive 53 syndromic dyslipidemia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014832 MONDO:0017748 False intellectual disability, autosomal recessive 53 inborn disorder of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014833 MONDO:0003847 False heart and brain malformation syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014836 MONDO:0018993 False Charcot-Marie-Tooth disease axonal type 2CC Charcot-Marie-Tooth disease type 2 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0014837 MONDO:0018795 False thrombocytopenia 6 syndromic constitutional thrombocytopenia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014837 MONDO:0020076 False thrombocytopenia 6 myeloproliferative neoplasm UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014837 MONDO:0023603 False thrombocytopenia 6 hereditary disorder of connective tissue UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014838 MONDO:0700120 False Coffin-Siris syndrome 5 BAFopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014839 MONDO:0003847 False chorea, childhood-onset, with psychomotor retardation hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014840 MONDO:0011096 False agammaglobulinemia 8, autosomal dominant autosomal agammaglobulinemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014842 MONDO:0015802 False intellectual disability, autosomal dominant 41 autosomal dominant non-syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0014846 MONDO:0018446 False spinocerebellar ataxia, autosomal recessive 23 autosomal recessive cerebellar ataxia - epilepsy - intellectual disability syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014848 MONDO:0002320 False TELO2-related intellectual disability-neurodevelopmental disorder congenital nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014848 MONDO:0003847 False TELO2-related intellectual disability-neurodevelopmental disorder hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014848 MONDO:0015159 False TELO2-related intellectual disability-neurodevelopmental disorder multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014848 MONDO:0015160 False TELO2-related intellectual disability-neurodevelopmental disorder multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014848 MONDO:0016908 False TELO2-related intellectual disability-neurodevelopmental disorder partial monosomy of the long arm of chromosome 9 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014848 MONDO:0019054 False TELO2-related intellectual disability-neurodevelopmental disorder congenital limb malformation UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014848 MONDO:0020022 False TELO2-related intellectual disability-neurodevelopmental disorder central nervous system malformation UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014850 MONDO:0003847 False retinitis pigmentosa and erythrocytic microcytosis hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014855 MONDO:0015802 False intellectual disability, autosomal dominant 42 autosomal dominant non-syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0014857 MONDO:0100500 False neurodevelopmental disorder with or without anomalies of the brain, eye, or heart Mendelian neurodevelopmental disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014858 MONDO:0015802 False intellectual disability, autosomal dominant 43 autosomal dominant non-syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0014862 MONDO:0100500 False cerebral palsy, spastic quadriplegic, 3 Mendelian neurodevelopmental disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014862 MONDO:0100516 False cerebral palsy, spastic quadriplegic, 3 complex neurodevelopmental disorder with motor features UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014863 MONDO:0003847 False macrocephaly, dysmorphic facies, and psychomotor retardation hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014864 MONDO:0005071 False hypermanganesemia with dystonia 2 nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0014864 MONDO:0006025 False hypermanganesemia with dystonia 2 autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0014864 MONDO:0017766 False hypermanganesemia with dystonia 2 disorder of manganese transport UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014865 MONDO:0028226 False autosomal recessive severe congenital neutropenia due to CSF3R deficiency autosomal recessive severe congenital neutropenia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014866 MONDO:0018993 False Charcot-Marie-Tooth disease axonal type 2T Charcot-Marie-Tooth disease type 2 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0014869 MONDO:0016387 False hydrops-lactic acidosis-sideroblastic anemia-multisystemic failure syndrome mitochondrial oxidative phosphorylation disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014870 MONDO:0015929 False NEK9-related lethal skeletal dysplasia thoracic malformation UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014870 MONDO:0019691 False NEK9-related lethal skeletal dysplasia short rib dysplasia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014873 MONDO:0005073 False nevus comedonicus syndrome melanocytic nevus UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014873 MONDO:0100118 False nevus comedonicus syndrome hereditary skin disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014874 MONDO:0016759 False pontocerebellar hypoplasia, type 2F pontocerebellar hypoplasia type 2 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0014881 MONDO:0005267 False transketolase deficiency heart disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014881 MONDO:0015159 False transketolase deficiency multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014881 MONDO:0015327 False transketolase deficiency developmental anomaly of metabolic origin UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014881 MONDO:0019231 False transketolase deficiency inborn disorder of pentose phosphate metabolism UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014882 MONDO:0016387 False hereditary spastic paraplegia 77 mitochondrial oxidative phosphorylation disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014886 MONDO:0015159 False severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014886 MONDO:0019289 False severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome hyperpigmentation of the skin UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014886 MONDO:0100118 False severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome hereditary skin disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014888 MONDO:0002254 False MIRAGE syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014888 MONDO:0003847 False MIRAGE syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014889 MONDO:0044807 False striatonigral degeneration, childhood-onset inherited dystonia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0014891 MONDO:0100337 False hyperuricemic nephropathy, familial juvenile type 4 SEC61A1 deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014892 MONDO:0000508 False micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0014892 MONDO:0002320 False micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome congenital nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0014892 MONDO:0015159 False micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014893 MONDO:0100500 False Okur-Chung neurodevelopmental syndrome Mendelian neurodevelopmental disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014895 MONDO:0018097 False developmental and epileptic encephalopathy, 40 West syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0014896 MONDO:0019950 False congenital muscular dystrophy-respiratory failure-skin abnormalities-joint hyperlaxity syndrome congenital muscular dystrophy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014898 MONDO:0016810 False progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 3 autosomal recessive progressive external ophthalmoplegia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014902 MONDO:0020573 False nasopharyngeal carcinoma, susceptibility to, 3 inherited disease susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014902 MONDO:0015356 False nasopharyngeal carcinoma, susceptibility to, 3 hereditary neoplastic syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014905 MONDO:0100198 False encephalopathy due to defective mitochondrial and peroxisomal fission 2 Mendelian encephalopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014911 MONDO:0002254 False growth retardation, intellectual developmental disorder, hypotonia, and hepatopathy syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014911 MONDO:0006025 False growth retardation, intellectual developmental disorder, hypotonia, and hepatopathy autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014912 MONDO:0005046 False infantile-onset periodic fever-panniculitis-dermatosis syndrome immune system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0014912 MONDO:0017953 False infantile-onset periodic fever-panniculitis-dermatosis syndrome hereditary periodic fever syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014914 MONDO:0700120 False Dias-Logan syndrome BAFopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014915 MONDO:0009032 False short-rib thoracic dysplasia 16 with or without polydactyly cranioectodermal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0014916 MONDO:0016022 False developmental and epileptic encephalopathy, 41 early myoclonic encephalopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS @@ -26780,6 +23836,7 @@ MONDO:0014917 MONDO:0018614 False developmental and epileptic encephalopathy, 42 MONDO:0014917 MONDO:0100254 False developmental and epileptic encephalopathy, 42 CACNA1A-related complex neurodevelopmental disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014917 MONDO:0100455 False developmental and epileptic encephalopathy, 42 neonatal-onset developmental and epileptic encephalopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014918 MONDO:0003847 False tall stature-intellectual disability-renal anomalies syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014918 MONDO:0015159 False tall stature-intellectual disability-renal anomalies syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014919 MONDO:0015524 False sessile serrated polyposis cancer syndrome hyperplastic polyposis syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014921 MONDO:0016532 False developmental and epileptic encephalopathy, 43 Lennox-Gastaut syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS MONDO:0014923 MONDO:0017339 False peeling skin syndrome 5 exfoliative ichthyosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -26789,12 +23846,25 @@ MONDO:0014933 MONDO:0018614 False developmental and epileptic encephalopathy, 44 MONDO:0014933 MONDO:0100455 False developmental and epileptic encephalopathy, 44 neonatal-onset developmental and epileptic encephalopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014934 MONDO:0020380 False spinocerebellar ataxia, autosomal recessive 24 autosomal dominant cerebellar ataxia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS MONDO:0014936 MONDO:0003847 False ZTTK syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014936 MONDO:0015159 False ZTTK syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014937 MONDO:0002466 False aniridia 2 eye carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014937 MONDO:0002658 False aniridia 2 iris cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014937 MONDO:0003008 False aniridia 2 hereditary renal cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014937 MONDO:0100534 False aniridia 2 SMARCB1-deficient kidney medullary carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014938 MONDO:0002466 False aniridia 3 eye carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014938 MONDO:0002658 False aniridia 3 iris cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014938 MONDO:0003008 False aniridia 3 hereditary renal cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014938 MONDO:0100534 False aniridia 3 SMARCB1-deficient kidney medullary carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014940 MONDO:0003847 False neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0014941 MONDO:0019942 False arthrogryposis, distal, with impaired proprioception and touch distal arthrogryposis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0014942 MONDO:0018614 False developmental and epileptic encephalopathy, 45 undetermined early-onset epileptic encephalopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014942 MONDO:0100455 False developmental and epileptic encephalopathy, 45 neonatal-onset developmental and epileptic encephalopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014944 MONDO:0000508 False short stature-brachydactyly-obesity-global developmental delay syndrome syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014944 MONDO:0002320 False short stature-brachydactyly-obesity-global developmental delay syndrome congenital nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014944 MONDO:0015159 False short stature-brachydactyly-obesity-global developmental delay syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014944 MONDO:0019695 False short stature-brachydactyly-obesity-global developmental delay syndrome acromelic dysplasia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014945 MONDO:0018949 False myopathy, distal, with rimmed vacuoles distal myopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS +MONDO:0014945 MONDO:0800464 False myopathy, distal, with rimmed vacuoles SQSTM1-related multisystem proteinopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014946 MONDO:0003847 False Sifrim-Hitz-Weiss syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014947 MONDO:0018614 False developmental and epileptic encephalopathy, 46 undetermined early-onset epileptic encephalopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014947 MONDO:0100455 False developmental and epileptic encephalopathy, 46 neonatal-onset developmental and epileptic encephalopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -26803,6 +23873,7 @@ MONDO:0014949 MONDO:0018614 False developmental and epileptic encephalopathy, 47 MONDO:0014949 MONDO:0100455 False developmental and epileptic encephalopathy, 47 neonatal-onset developmental and epileptic encephalopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014952 MONDO:0002254 False intellectual disability-epilepsy-extrapyramidal syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014952 MONDO:0003847 False intellectual disability-epilepsy-extrapyramidal syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014953 MONDO:0006025 False gnb5-related intellectual disability-cardiac arrhythmia syndrome autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0014954 MONDO:0007527 False Ehlers-Danlos syndrome, periodontal type 2 Ehlers-Danlos syndrome, periodontitis type UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014955 MONDO:0009979 False RCBTB1-related retinopathy reticular dystrophy of the retinal pigment epithelium UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0014956 MONDO:0003847 False Chitayat syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -26812,14 +23883,20 @@ MONDO:0014960 MONDO:0024237 False encephalopathy, progressive, early-onset, with MONDO:0014960 MONDO:0100198 False encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy Mendelian encephalopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014963 MONDO:0003847 False Shashi-Pena syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014968 MONDO:0100198 False encephalopathy, progressive, with amyotrophy and optic atrophy Mendelian encephalopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014969 MONDO:0019231 False isolated sedoheptulokinase deficiency inborn disorder of pentose phosphate metabolism UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014971 MONDO:0015048 False amelogenesis imperfecta, hypomaturation type, IIa6 amelogenesis imperfecta type 2 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014972 MONDO:0013090 False chromosome 19q13.11 deletion syndrome, proximal chromosome 19q13.11 deletion syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014973 MONDO:0003847 False sudden cardiac failure, infantile hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014974 MONDO:0003847 False sudden cardiac failure, alcohol-induced hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014975 MONDO:0006025 False autosomal recessive spastic paraplegia type 78 autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0014975 MONDO:0015150 False autosomal recessive spastic paraplegia type 78 complex hereditary spastic paraplegia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014976 MONDO:0005267 False lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome heart disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0014977 MONDO:0002320 False autosomal recessive limb-girdle muscular dystrophy type 2R1 congenital nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0014977 MONDO:0017741 False autosomal recessive limb-girdle muscular dystrophy type 2R1 disorder of protein O-glycosylation UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014979 MONDO:0003847 False myoclonus, intractable, neonatal hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014980 MONDO:0003847 False cone-rod dystrophy and hearing loss hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014981 MONDO:0003778 False immunodeficiency 49 inborn error of immunity UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0014981 MONDO:0031520 False immunodeficiency 49 familial severe combined immunodeficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0014984 MONDO:0003847 False lung disease, immunodeficiency, and chromosome breakage syndrome; hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014989 MONDO:0003847 False uncombable hair syndrome 2 hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014989 MONDO:0008621 False uncombable hair syndrome 2 uncombable hair syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -26830,61 +23907,128 @@ MONDO:0014994 MONDO:0003847 False global developmental delay, absent or hypoplas MONDO:0014995 MONDO:0100500 False neurodevelopmental disorder with hypotonia, seizures, and absent language Mendelian neurodevelopmental disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014998 MONDO:0020366 False glaucoma 3, primary congenital, E congenital glaucoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014998 MONDO:0800182 False glaucoma 3, primary congenital, E TEK-related primary glaucoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015003 MONDO:0018424 False dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities inherited lipoic acid biosynthesis defect UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015003 MONDO:0024237 False dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities inherited neurodegenerative disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015005 MONDO:0009945 False epilepsy, early-onset, vitamin B6-dependent pyridoxine-dependent epilepsy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0015006 MONDO:0000426 False epidermolysis bullosa simplex 6, generalized, with scarring and hair loss autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015007 MONDO:0015087 False spastic paraplegia, intellectual disability, nystagmus, and obesity autosomal dominant complex spastic paraplegia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015008 MONDO:0015047 False amelogenesis imperfecta, type 1J amelogenesis imperfecta type 1 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015009 MONDO:0700080 False lymphatic malformation 7 EPHB4-associated vascular malformation spectrum UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015012 MONDO:0005087 False mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders respiratory system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015012 MONDO:0015327 False mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders developmental anomaly of metabolic origin UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015012 MONDO:0100365 False mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders mucopolysaccharidosis or mucopolysaccharidosis-like disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015012 MONDO:0800088 False mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders lysosomal storage disease with skeletal involvement UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015010 MONDO:0011612 False atypical glycine encephalopathy glycine encephalopathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0015012 MONDO:0005087 False mucopolysaccharidosis-plus syndrome respiratory system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015012 MONDO:0015159 False mucopolysaccharidosis-plus syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015012 MONDO:0015327 False mucopolysaccharidosis-plus syndrome developmental anomaly of metabolic origin UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015012 MONDO:0100365 False mucopolysaccharidosis-plus syndrome mucopolysaccharidosis or mucopolysaccharidosis-like disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015012 MONDO:0800088 False mucopolysaccharidosis-plus syndrome lysosomal storage disease with skeletal involvement UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015014 MONDO:0003847 False coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, and deafness hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015016 MONDO:0800472 False anterior segment dysgenesis 6 CYP1B1-related glaucoma with or without anterior segment dysgenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015019 MONDO:0003847 False Yao syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015021 MONDO:0003847 False hypotonia, ataxia, and delayed development syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0015022 MONDO:0000508 False intellectual developmental disorder with dysmorphic facies and ptosis syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015022 MONDO:0003847 False intellectual developmental disorder with dysmorphic facies and ptosis hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015027 MONDO:0015356 False familial isolated hyperparathyroidism hereditary neoplastic syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015028 MONDO:0002254 False 48,XXYY syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015027 MONDO:0016365 False familial isolated hyperparathyroidism familial primary hyperparathyroidism UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015028 MONDO:0017975 False 48,XXYY syndrome sex chromosome disorder of sex development UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015029 MONDO:0015031 False reticular perineurioma extraneural perineurioma UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015030 MONDO:0015031 False sclerosing perineurioma extraneural perineurioma UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015031 MONDO:0019404 False extraneural perineurioma perineurioma UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015033 MONDO:0011583 False ABeta amyloidosis, dutch type cerebral amyloid angiopathy, APP-related UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015034 MONDO:0019450 False lissencephaly with cerebellar hypoplasia type A lissencephaly with cerebellar hypoplasia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015035 MONDO:0019450 False lissencephaly with cerebellar hypoplasia type B lissencephaly with cerebellar hypoplasia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015036 MONDO:0019450 False lissencephaly with cerebellar hypoplasia type C lissencephaly with cerebellar hypoplasia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015037 MONDO:0019450 False lissencephaly with cerebellar hypoplasia type D lissencephaly with cerebellar hypoplasia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015038 MONDO:0019450 False lissencephaly with cerebellar hypoplasia type E lissencephaly with cerebellar hypoplasia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015039 MONDO:0019450 False lissencephaly with cerebellar hypoplasia type F lissencephaly with cerebellar hypoplasia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015042 MONDO:0005615 False primary plasmacytoma of the bone plasmacytoma UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015043 MONDO:0005615 False extramedullary soft tissue plasmacytoma plasmacytoma UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015047 MONDO:0019507 False amelogenesis imperfecta type 1 amelogenesis imperfecta UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015048 MONDO:0019507 False amelogenesis imperfecta type 2 amelogenesis imperfecta UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015049 MONDO:0024477 False solitary necrotic nodule of the liver liver and intrahepatic bile duct neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015050 MONDO:0003749 False esophageal duplication cyst esophageal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015051 MONDO:0003749 False tubular duplication of the esophagus esophageal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015053 MONDO:0033946 False hereditary angioedema type 1 hereditary angioedema with C1Inh deficiency UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015054 MONDO:0033946 False hereditary angioedema type 2 hereditary angioedema with C1Inh deficiency UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015055 MONDO:0019624 False acquired angioedema type 2 acquired angioedema UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015056 MONDO:0019624 False acquired angioedema type 1 acquired angioedema UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015057 MONDO:0019624 False renin-angiotensin-aldosterone system-blocker-induced angioedema acquired angioedema UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015059 MONDO:0005395 False progressive non-fluent aphasia movement disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015059 MONDO:0011842 False progressive non-fluent aphasia GRN-related frontotemporal lobar degeneration with Tdp43 inclusions UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015060 MONDO:0700010 False mosaic trisomy 3 chromosome 3 disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015060 MONDO:0700065 False mosaic trisomy 3 trisomy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015061 MONDO:0005979 False neurogenic thoracic outlet syndrome thoracic outlet syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015063 MONDO:0024500 False duodenal neuroendocrine tumor, well differentiated, low or intermediate grade duodenal neuroendocrine neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015066 MONDO:0015067 False neuroendocrine tumor of the appendix, well differentiated, low or intermediate grade neuroendocrine tumor of the colon, well differentiated, low or intermediate grade tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015066 MONDO:0018511 False neuroendocrine tumor of the appendix, well differentiated, low or intermediate grade epithelial tumor of the appendix UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015067 MONDO:0024479 False neuroendocrine tumor of the colon, well differentiated, low or intermediate grade tumor epithelial tumor of colon UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015069 MONDO:0015068 False neuroendocrine tumor of the anal canal neuroendocrine tumor of rectum, well differentiated, low or intermediate grade UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015070 MONDO:0024623 False laryngeal neuroendocrine neoplasm otorhinolaryngologic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015071 MONDO:0019496 False middle ear neuroendocrine tumor neuroendocrine neoplasm UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015071 MONDO:0021366 False middle ear neuroendocrine tumor neoplasm of middle ear UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015073 MONDO:0021385 False gallbladder neuroendocrine tumor, grade 1/2 extrahepatic bile duct neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015074 MONDO:0002082 False thyroid tumor endocrine gland neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015079 MONDO:0015126 False multiple polyglandular tumor polyendocrinopathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015082 MONDO:0004907 False alopecia antibody deficiency alopecia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015084 MONDO:0002254 False FRAXF syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015084 MONDO:0003847 False FRAXF syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015085 MONDO:0017265 False bathing suit ichthyosis autosomal recessive congenital ichthyosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015086 MONDO:0015338 False cloverleaf skull-asphyxiating thoracic dysplasia syndrome syndromic craniosynostosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015087 MONDO:0000426 False autosomal dominant complex spastic paraplegia autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015087 MONDO:0015150 False autosomal dominant complex spastic paraplegia complex hereditary spastic paraplegia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015092 MONDO:0016064 False cleft hard palate cleft palate UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015093 MONDO:0016292 False sub-cortical nodular heterotopia nodular neuronal heterotopia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015094 MONDO:0016292 False subependymal nodular heterotopia nodular neuronal heterotopia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015095 MONDO:0011414 False Peters anomaly-cataract syndrome Peters anomaly UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015096 MONDO:0008737 False familial hypofibrinogenemia congenital afibrinogenemia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015104 MONDO:0002406 False porphyria cutanea tarda dermatitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0015097 MONDO:0017735 False aortic valve dysplasia congenital aortic valve stenosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015099 MONDO:0017092 False unilateral hemispheric polymicrogyria unilateral polymicrogyria UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015100 MONDO:0019453 False aregenerative anemia myelodysplastic syndrome with multilineage dysplasia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015101 MONDO:0007946 False Marin-Amat syndrome jaw-winking syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015103 MONDO:0020064 False pulmonary valve agenesis-tetralogy of fallot-absence of ductus arteriosus syndrome pulmonary valve agenesis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015104 MONDO:0002520 False porphyria cutanea tarda hepatic porphyria UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0015109 MONDO:0003767 False congenital anomaly of the mitral subvalvular apparatus mitral valve disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015109 MONDO:0019817 False congenital anomaly of the mitral subvalvular apparatus congenital mitral valve insufficiency and/or stenosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015126 MONDO:0005151 False polyendocrinopathy endocrine system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015127 MONDO:0005151 False pituitary deficiency endocrine system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015128 MONDO:0005495 False primary adrenal insufficiency adrenal gland disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015131 MONDO:0021094 False combined immunodeficiency immunodeficiency disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015134 MONDO:0001475 False constitutional neutropenia neutropenia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015134 MONDO:0009332 False constitutional neutropenia congenital hematological disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015137 MONDO:0019751 False periodic fever syndrome autoinflammatory syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015140 MONDO:0000426 False early-onset autosomal dominant Alzheimer disease autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015140 MONDO:0015547 False early-onset autosomal dominant Alzheimer disease hereditary dementia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015140 MONDO:0024237 False early-onset autosomal dominant Alzheimer disease inherited neurodegenerative disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015140 MONDO:0100087 False early-onset autosomal dominant Alzheimer disease familial Alzheimer disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015146 MONDO:0018838 False classic lissencephaly lissencephaly spectrum disorders UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015148 MONDO:0018838 False lissencephaly type 3 lissencephaly spectrum disorders UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0015149 MONDO:0019064 False pure hereditary spastic paraplegia hereditary spastic paraplegia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015150 MONDO:0002254 False complex hereditary spastic paraplegia syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015150 MONDO:0019064 False complex hereditary spastic paraplegia hereditary spastic paraplegia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015151 MONDO:0000426 False muscular dystrophy, limb-girdle, autosomal dominant autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0015151 MONDO:0016971 False muscular dystrophy, limb-girdle, autosomal dominant limb-girdle muscular dystrophy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0015152 MONDO:0006025 False autosomal recessive limb-girdle muscular dystrophy autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0015152 MONDO:0016971 False autosomal recessive limb-girdle muscular dystrophy limb-girdle muscular dystrophy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0015157 MONDO:0017341 False human herpesvirus 8-related tumor virus associated tumor UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015158 MONDO:0015137 False unexplained periodic fever syndrome periodic fever syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015159 MONDO:0019042 False multiple congenital anomalies/dysmorphic syndrome-intellectual disability multiple congenital anomalies/dysmorphic syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015161 MONDO:0019042 False multiple congenital anomalies/dysmorphic syndrome without intellectual disability multiple congenital anomalies/dysmorphic syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015164 MONDO:0019457 False acute myeloid leukemia and myelodysplastic syndromes related to alkylating agent therapy related acute myeloid leukemia and myelodysplastic syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015165 MONDO:0019457 False acute myeloid leukemia and myelodysplastic syndromes related to topoisomerase type 2 inhibitor therapy related acute myeloid leukemia and myelodysplastic syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015166 MONDO:0018874 False acute myeloid leukemia with t(8;21)(q22;q22) translocation acute myeloid leukemia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015167 MONDO:0018230 False amniotic band syndrome skeletal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015167 MONDO:0018234 False amniotic band syndrome dysostosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015168 MONDO:0003847 False arthrogryposis multiplex congenita hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0015168 MONDO:0015225 False arthrogryposis multiplex congenita arthrogryposis syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015169 MONDO:0017706 False chronic diarrhea due to glucoamylase deficiency disorder of carbohydrate transmembrane transport and absorption UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015169 MONDO:0044751 False chronic diarrhea due to glucoamylase deficiency chronic diarrheal disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015170 MONDO:0000824 False congenital sodium diarrhea congenital diarrhea UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015171 MONDO:0005020 False congenital enterocyte heparan sulfate deficiency intestinal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015174 MONDO:0019787 False autoimmune enteropathy type 3 autoimmune enteropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015175 MONDO:0000569 False autoimmune pancreatitis autoimmune disorder of endocrine system UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0015175 MONDO:0000588 False autoimmune pancreatitis autoimmune disorder of gastrointestinal tract UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0015175 MONDO:0004982 False autoimmune pancreatitis pancreatitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0015175 MONDO:0017287 False autoimmune pancreatitis IgG4-related disease UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0015176 MONDO:0005265 False undetermined colitis inflammatory bowel disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015177 MONDO:0018230 False metaphyseal anadysplasia skeletal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015183 MONDO:0005020 False short bowel syndrome intestinal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0015185 MONDO:0015356 False intestinal polyposis syndrome hereditary neoplastic syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015191 MONDO:0017574 False myopathic intestinal pseudoobstruction chronic intestinal pseudoobstruction UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015193 MONDO:0019755 False hydrops fetalis developmental defect during embryogenesis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015195 MONDO:0018559 False atresia of urethra fetal lower urinary tract obstruction UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015196 MONDO:0001256 False vein of Galen aneurysm arteriovenous hemangioma/malformation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015196 MONDO:0003948 False vein of Galen aneurysm cerebral hemangioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015196 MONDO:0004634 False vein of Galen aneurysm vein disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -26896,50 +24040,97 @@ MONDO:0015199 MONDO:0003847 False aniridia - intellectual disability syndrome he MONDO:0015200 MONDO:0005656 False anisakiasis Ascaridida infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015200 MONDO:0024271 False anisakiasis intestinal helminthiasis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015201 MONDO:0002254 False ankyloblepharon filiforme-imperforate anus syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015201 MONDO:0019755 False ankyloblepharon filiforme-imperforate anus syndrome developmental defect during embryogenesis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015201 MONDO:0024458 False ankyloblepharon filiforme-imperforate anus syndrome disorder of visual system UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015203 MONDO:0019512 False coronary artery congenital malformation congenital heart malformation UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015204 MONDO:0018838 False microlissencephaly lissencephaly spectrum disorders UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0015205 MONDO:0015146 False isolated lissencephaly type 1 without known genetic defects classic lissencephaly UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015206 MONDO:0015160 False short stature-heart defect-craniofacial anomalies syndrome multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015228 MONDO:0002254 False pentasomy X syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015225 MONDO:0019054 False arthrogryposis syndrome congenital limb malformation UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015228 MONDO:0700027 False pentasomy X chromosome X disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015228 MONDO:0700085 False pentasomy X pentasomy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015229 MONDO:0005308 False Bardet-Biedl syndrome ciliopathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0015229 MONDO:0006025 False Bardet-Biedl syndrome autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0015230 MONDO:0002254 False anophthalmia-megalocornea-cardiopathy-skeletal anomalies syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015231 MONDO:0002254 False Bartter syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0015230 MONDO:0015161 False anophthalmia-megalocornea-cardiopathy-skeletal anomalies syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015231 MONDO:0006510 False Bartter syndrome renal tubular transport disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0015231 MONDO:0015962 False Bartter syndrome inherited renal tubular disease UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015232 MONDO:0003847 False radial deficiency-tibial hypoplasia syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015232 MONDO:0018234 False radial deficiency-tibial hypoplasia syndrome dysostosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015232 MONDO:0019054 False radial deficiency-tibial hypoplasia syndrome congenital limb malformation UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015233 MONDO:0015159 False caudal appendage-deafness syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015234 MONDO:0015159 False arachnodactyly-abnormal ossification-intellectual disability syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015235 MONDO:0015160 False arachnodactyly-intellectual disability-dysmorphism syndrome multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015236 MONDO:0020292 False aortic arch defects congenital anomaly of the great arteries UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015236 MONDO:0022606 False aortic arch defects branchial arch disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015237 MONDO:0024623 False arrhinia otorhinolaryngologic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015238 MONDO:0015161 False arrhinia-choanal atresia-microphthalmia syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015239 MONDO:0016581 False abnormal origin of the pulmonary artery conotruncal heart malformations UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015240 MONDO:0015161 False digitotalar dysmorphism multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015240 MONDO:0019942 False digitotalar dysmorphism distal arthrogryposis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0015241 MONDO:0015168 False arthrogryposis-like syndrome arthrogryposis multiplex congenita UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015243 MONDO:0000771 False allergic bronchopulmonary aspergillosis allergic respiratory disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0015244 MONDO:0006025 False autosomal recessive cerebellar ataxia autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0015244 MONDO:0100310 False autosomal recessive cerebellar ataxia hereditary cerebellar ataxia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015247 MONDO:0005395 False opsoclonus-myoclonus syndrome movement disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015247 MONDO:0018215 False opsoclonus-myoclonus syndrome paraneoplastic neurologic syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015248 MONDO:0002320 False ataxia-photosensitivity-short stature syndrome congenital nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015249 MONDO:0003767 False mitral atresia disorder mitral valve disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015249 MONDO:0005453 False mitral atresia disorder congenital heart disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015248 MONDO:0015159 False ataxia-photosensitivity-short stature syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015248 MONDO:0100309 False ataxia-photosensitivity-short stature syndrome hereditary ataxia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015249 MONDO:0019817 False mitral atresia disorder congenital mitral valve insufficiency and/or stenosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015250 MONDO:0016113 False spinal atrophy-ophthalmoplegia-pyramidal syndrome bulbospinal muscular atrophy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015252 MONDO:0002320 False severe microbrachycephaly-intellectual disability-athetoid cerebral palsy syndrome congenital nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015253 MONDO:0001705 False Diamond-Blackfan anemia pure red-cell aplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0015252 MONDO:0015159 False severe microbrachycephaly-intellectual disability-athetoid cerebral palsy syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015252 MONDO:0100309 False severe microbrachycephaly-intellectual disability-athetoid cerebral palsy syndrome hereditary ataxia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015253 MONDO:0001713 False Diamond-Blackfan anemia inherited aplastic anemia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0015254 MONDO:0004664 False schistosomiasis helminthiasis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0015254 MONDO:0100120 False schistosomiasis vector-borne disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015255 MONDO:0001411 False blepharophimosis-radioulnar synostosis syndrome synostosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015255 MONDO:0002254 False blepharophimosis-radioulnar synostosis syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015255 MONDO:0003847 False blepharophimosis-radioulnar synostosis syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015255 MONDO:0019054 False blepharophimosis-radioulnar synostosis syndrome congenital limb malformation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015257 MONDO:0007263 False sino-auricular heart block cardiac rhythm disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015259 MONDO:0015159 False brachydactyly-mesomelia-intellectual disability-heart defects syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015260 MONDO:0042488 False diphyllobothriasis Cestode infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015263 MONDO:0002254 False Brugada syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0015261 MONDO:0004907 False pseudopelade of Brocq alopecia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015262 MONDO:0005516 False brachyolmia osteochondrodysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0015262 MONDO:0019694 False brachyolmia spondylodysplastic dysplasia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015263 MONDO:0000992 False Brugada syndrome heart conduction disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0015263 MONDO:0003847 False Brugada syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0015264 MONDO:0002429 False cryptogenic organizing pneumonia idiopathic interstitial pneumonia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0015265 MONDO:0002465 False bronchiolitis obliterans syndrome bronchiolitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0015268 MONDO:0002473 False medullary sponge kidney cystic kidney disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015265 MONDO:0015925 False bronchiolitis obliterans syndrome interstitial lung disease UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0015267 MONDO:0000426 False Feingold syndrome autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0015268 MONDO:0021147 False medullary sponge kidney disorder of development or morphogenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015269 MONDO:0005071 False symmetrical thalamic calcifications nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015270 MONDO:0019253 False butyrylcholinesterase deficiency metabolic disease involving other neurotransmitter deficiency UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015271 MONDO:0016105 False idiopathic camptocormia acquired skeletal muscle disease UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015271 MONDO:0700007 False idiopathic camptocormia idiopathic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015272 MONDO:0019054 False camptodactyly-taurinuria syndrome congenital limb malformation UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015273 MONDO:0020290 False complete atrioventricular canal familial atrioventricular septal defect UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015274 MONDO:0015926 False chronic beryllium disease pneumoconiosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0015275 MONDO:0020290 False partial atrioventricular canal familial atrioventricular septal defect UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015277 MONDO:0005034 False medullary thyroid gland carcinoma thyroid gland follicular carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0015278 MONDO:0003847 False familial pancreatic carcinoma hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015279 MONDO:0003778 False chronic mucocutaneous candidiasis inborn error of immunity UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0015279 MONDO:0100118 False chronic mucocutaneous candidiasis hereditary skin disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015280 MONDO:0015159 False cardiofaciocutaneous syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015280 MONDO:0019287 False cardiofaciocutaneous syndrome ectodermal dysplasia syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS +MONDO:0015280 MONDO:0020297 False cardiofaciocutaneous syndrome Noonan syndrome and Noonan-related syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015281 MONDO:0016340 False atrial standstill familial restrictive cardiomyopathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015282 MONDO:0002254 False cardiomyopathy-cataract-hip spine disease syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015283 MONDO:0044970 False maternally-inherited cardiomyopathy and hearing loss mitochondrial disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015284 MONDO:0015161 False heart-hand syndrome type 2 multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015284 MONDO:0016432 False heart-hand syndrome type 2 heart-hand syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015285 MONDO:0000426 False Carney complex autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0015286 MONDO:0019052 False congenital disorder of glycosylation inborn errors of metabolism UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0015286 MONDO:0024322 False congenital disorder of glycosylation disorder of glycosylation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015288 MONDO:0004609 False herpes simplex virus keratitis herpes simplex infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0015288 MONDO:0020950 False herpes simplex virus keratitis viral eye infection UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015288 MONDO:0023865 False herpes simplex virus keratitis corneal infection UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015289 MONDO:0020950 False infectious epithelial keratitis viral eye infection UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015289 MONDO:0023865 False infectious epithelial keratitis corneal infection UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015290 MONDO:0005328 False neurotrophic keratopathy eye disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015291 MONDO:0015288 False stromal keratitis herpes simplex virus keratitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015292 MONDO:0015288 False endotheliitis herpes simplex virus keratitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015293 MONDO:0005073 False segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndrome melanocytic nevus UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015293 MONDO:0017623 False segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndrome PTEN hamartoma tumor syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015293 MONDO:0019716 False segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndrome overgrowth syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015293 MONDO:0100118 False segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndrome hereditary skin disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015294 MONDO:0005093 False nephrogenic systemic fibrosis skin disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015295 MONDO:0005020 False intractable diarrhea-choanal atresia-eye anomalies syndrome intestinal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -26947,48 +24138,97 @@ MONDO:0015296 MONDO:0005267 False cardiac anomalies-heterotaxy syndrome heart di MONDO:0015298 MONDO:0000942 False pellucid marginal degeneration corneal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015299 MONDO:0002263 False Asherman syndrome female reproductive system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015300 MONDO:0002254 False cataract - microcornea syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015301 MONDO:0019065 False primary cutaneous amyloidosis amyloidosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0015301 MONDO:0021154 False primary cutaneous amyloidosis dermis disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015302 MONDO:0015301 False nodular cutaneous amyloidosis primary cutaneous amyloidosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015303 MONDO:0015301 False macular amyloidosis primary cutaneous amyloidosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015304 MONDO:0004796 False arachnoiditis infectious meningitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0015306 MONDO:0000315 False Lemierre syndrome commensal bacterial infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0015306 MONDO:0005229 False Lemierre syndrome bacterial infectious disease with sepsis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0015307 MONDO:0020128 False Madras motor neuron disease motor neuron disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015308 MONDO:0021187 False laminopathy type Decaudain-Vigouroux hyperlipidemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015311 MONDO:0002254 False autism-facial port-wine stain syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015312 MONDO:0012155 False choanal atresia, unilateral choanal atresia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015313 MONDO:0012155 False choanal atresia, bilateral choanal atresia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015314 MONDO:0004382 False primary laryngeal lymphangioma laryngeal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015315 MONDO:0005071 False neonatal brainstem dysfunction nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015316 MONDO:0002320 False congenital laryngeal palsy congenital nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015316 MONDO:0004382 False congenital laryngeal palsy laryngeal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015317 MONDO:0005586 False laryngotracheal angioma head and neck neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015317 MONDO:0016223 False laryngotracheal angioma infantile hemangioma of rare localization UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015317 MONDO:0024623 False laryngotracheal angioma otorhinolaryngologic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015324 MONDO:0002254 False cataract-intellectual disability-anal atresia-urinary defects syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015324 MONDO:0015159 False cataract-intellectual disability-anal atresia-urinary defects syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015325 MONDO:0002254 False cataract-deafness-hypogonadism syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015325 MONDO:0015159 False cataract-deafness-hypogonadism syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015326 MONDO:0015161 False night blindness-skeletal anomalies-dysmorphism syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015327 MONDO:0005066 False developmental anomaly of metabolic origin metabolic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015327 MONDO:0019755 False developmental anomaly of metabolic origin developmental defect during embryogenesis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015333 MONDO:0019303 False progeroid syndrome premature aging syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015333 MONDO:0019755 False progeroid syndrome developmental defect during embryogenesis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015337 MONDO:0015469 False isolated craniosynostosis craniosynostosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015338 MONDO:0002254 False syndromic craniosynostosis syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015338 MONDO:0015469 False syndromic craniosynostosis craniosynostosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015338 MONDO:0018230 False syndromic craniosynostosis skeletal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015339 MONDO:0018544 False adrenomyeloneuropathy adrenoleukodystrophy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015339 MONDO:0020127 False adrenomyeloneuropathy hereditary peripheral neuropathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015340 MONDO:0005492 False drug rash with eosinophilia and systemic symptoms urticaria UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015340 MONDO:0017396 False drug rash with eosinophilia and systemic symptoms toxic dermatosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015341 MONDO:0005073 False congenital panfollicular nevus melanocytic nevus UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015342 MONDO:0002565 False acute transverse myelitis myelitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015342 MONDO:0020683 False acute transverse myelitis acute disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015343 MONDO:0015342 False secondary acute transverse myelitis acute transverse myelitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015344 MONDO:0015342 False idiopathic acute transverse myelitis acute transverse myelitis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015344 MONDO:0700007 False idiopathic acute transverse myelitis idiopathic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015345 MONDO:0020072 False perioral myoclonia with absences childhood-onset epilepsy syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015346 MONDO:0020072 False Jeavons syndrome childhood-onset epilepsy syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015347 MONDO:0002254 False multicentric reticulohistiocytosis syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0015347 MONDO:0015531 False multicentric reticulohistiocytosis non-Langerhans cell histiocytosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0015348 MONDO:0019046 False leukoencephalopathy with bilateral anterior temporal lobe cysts leukodystrophy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015349 MONDO:0019046 False progressive cavitating leukoencephalopathy leukodystrophy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015350 MONDO:0003847 False 17q11.2 microduplication syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015350 MONDO:0016967 False 17q11.2 microduplication syndrome partial duplication of the long arm of chromosome 17 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015351 MONDO:0020127 False neuropathy with hearing impairment hereditary peripheral neuropathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015352 MONDO:0015362 False distal hereditary motor neuropathy type 2 neuronopathy, distal hereditary motor, autosomal dominant UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0015353 MONDO:0100350 False neuronopathy, distal hereditary motor, type 5A neuronopathy, distal hereditary motor, type 5 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0015354 MONDO:0002254 False hereditary sensory and autonomic neuropathy with deafness and global delay syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015354 MONDO:0003847 False hereditary sensory and autonomic neuropathy with deafness and global delay hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015356 MONDO:0003847 False hereditary neoplastic syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015356 MONDO:0021058 False hereditary neoplastic syndrome neoplastic syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015355 MONDO:0015362 False distal hereditary motor neuropathy type 7 neuronopathy, distal hereditary motor, autosomal dominant UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0015356 MONDO:0020573 False hereditary neoplastic syndrome inherited disease susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015356 MONDO:0021074 False hereditary neoplastic syndrome precancerous condition UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015357 MONDO:0001220 False secondary hypoparathyroidism due to impaired parathormon secretion hypoparathyroidism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015358 MONDO:0020127 False hereditary motor and sensory neuropathy hereditary peripheral neuropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015362 MONDO:0000075 False neuronopathy, distal hereditary motor, autosomal dominant neuronopathy, distal hereditary motor UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015363 MONDO:0000075 False neuronopathy, distal hereditary motor, autosomal recessive neuronopathy, distal hereditary motor UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015362 MONDO:0000426 False neuronopathy, distal hereditary motor, autosomal dominant autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0015362 MONDO:0001516 False neuronopathy, distal hereditary motor, autosomal dominant spinal muscular atrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0015362 MONDO:0018894 False neuronopathy, distal hereditary motor, autosomal dominant distal hereditary motor neuropathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015363 MONDO:0006025 False neuronopathy, distal hereditary motor, autosomal recessive autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0015363 MONDO:0018894 False neuronopathy, distal hereditary motor, autosomal recessive distal hereditary motor neuropathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015364 MONDO:0002321 False hereditary sensory and autonomic neuropathy sensory peripheral neuropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0015364 MONDO:0020127 False hereditary sensory and autonomic neuropathy hereditary peripheral neuropathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015367 MONDO:0015161 False Charlie M syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015367 MONDO:0017139 False Charlie M syndrome oromandibular-limb hypogenesis syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015369 MONDO:0020043 False Joubert syndrome and related disorders autosomal recessive congenital cerebellar ataxia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015371 MONDO:0021154 False linear atrophoderma of Moulin dermis disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015372 MONDO:0100241 False autosomal dominant macrothrombocytopenia inherited thrombocytopenia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015374 MONDO:0003346 False primary central nervous system vasculitis central nervous system vasculitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015375 MONDO:0003847 False orofaciodigital syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0015375 MONDO:0015498 False orofaciodigital syndrome oromandibular-limb anomalies syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015376 MONDO:0015476 False first branchial cleft anomaly cysts and fistulae of the face and oral cavity UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015377 MONDO:0015476 False third branchial cleft anomaly cysts and fistulae of the face and oral cavity UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015378 MONDO:0015476 False fourth branchial cleft anomaly cysts and fistulae of the face and oral cavity UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015379 MONDO:0002378 False cervical dermoid cyst dermoid cyst UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015379 MONDO:0015476 False cervical dermoid cyst cysts and fistulae of the face and oral cavity UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015379 MONDO:0021351 False cervical dermoid cyst neoplasm of neck UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015380 MONDO:0002378 False facial dermoid cyst dermoid cyst UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015380 MONDO:0005586 False facial dermoid cyst head and neck neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015380 MONDO:0015476 False facial dermoid cyst cysts and fistulae of the face and oral cavity UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015381 MONDO:0006858 False commissural lip fistula mouth disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015381 MONDO:0015476 False commissural lip fistula cysts and fistulae of the face and oral cavity UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015382 MONDO:0004748 False lower lip fistula lip disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015382 MONDO:0015476 False lower lip fistula cysts and fistulae of the face and oral cavity UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015383 MONDO:0015476 False cervicofacial fibrochondroma cysts and fistulae of the face and oral cavity UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015384 MONDO:0001165 False digestive duplication cyst of the tongue tongue disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015384 MONDO:0015476 False digestive duplication cyst of the tongue cysts and fistulae of the face and oral cavity UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015386 MONDO:0005586 False epignathus head and neck neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015386 MONDO:0019500 False epignathus extragonadal teratoma UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015386 MONDO:0024623 False epignathus otorhinolaryngologic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015387 MONDO:0024623 False nasolacrimal duct cyst otorhinolaryngologic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015387 MONDO:0044984 False nasolacrimal duct cyst nasolacrimal duct disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -26997,27 +24237,48 @@ MONDO:0015389 MONDO:0024623 False supernumerary nostril otorhinolaryngologic dis MONDO:0015390 MONDO:0024623 False proboscis lateralis otorhinolaryngologic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015391 MONDO:0002601 False nasopharyngeal teratoma teratoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015391 MONDO:0005375 False nasopharyngeal teratoma nasopharyngeal neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015391 MONDO:0019500 False nasopharyngeal teratoma extragonadal teratoma UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015392 MONDO:0005586 False nasal glial heterotopia head and neck neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015392 MONDO:0024623 False nasal glial heterotopia otorhinolaryngologic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015393 MONDO:0005586 False nasal ganglioglioma head and neck neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015393 MONDO:0016733 False nasal ganglioglioma ganglioglioma UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015393 MONDO:0024623 False nasal ganglioglioma otorhinolaryngologic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015394 MONDO:0016057 False nasal encephalocele isolated encephalocele UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015394 MONDO:0024623 False nasal encephalocele otorhinolaryngologic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015395 MONDO:0004382 False congenital subglottic stenosis laryngeal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015396 MONDO:0004382 False congenital laryngeal cyst laryngeal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015397 MONDO:0007712 False craniofacial microsomia 1 oculoauriculovertebral spectrum with radial defects UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0015397 MONDO:0021635 False craniofacial microsomia 1 neurocristopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015399 MONDO:0017139 False glossopalatine ankylosis oromandibular-limb hypogenesis syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015400 MONDO:0015500 False frontonasal arteriovenous malformation facial arteriovenous malformation UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015401 MONDO:0015500 False maxillary arteriovenous malformation facial arteriovenous malformation UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015402 MONDO:0015500 False mandibular arteriovenous malformation facial arteriovenous malformation UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015405 MONDO:0001256 False cerebrofacial arteriovenous metameric syndrome arteriovenous hemangioma/malformation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015406 MONDO:0015405 False cerebrofacial arteriovenous metameric syndrome type 1 cerebrofacial arteriovenous metameric syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015407 MONDO:0015405 False cerebrofacial arteriovenous metameric syndrome type 3 cerebrofacial arteriovenous metameric syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015408 MONDO:0002013 False diffuse lymphatic malformation lymphangioma UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0015409 MONDO:0021147 False isolated congenital syngnathia disorder of development or morphogenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015409 MONDO:0024623 False isolated congenital syngnathia otorhinolaryngologic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015410 MONDO:0015476 False nasal dorsum fistula/cyst cysts and fistulae of the face and oral cavity UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015411 MONDO:0019755 False facial cleft developmental defect during embryogenesis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015411 MONDO:0023369 False facial cleft disorder of facial skeleton UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015413 MONDO:0015411 False median cleft of the upper lip and maxilla facial cleft UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015414 MONDO:0008866 False paramedian nasal cleft bifid nose, autosomal recessive UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015416 MONDO:0015411 False Tessier number 5 facial cleft facial cleft UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015417 MONDO:0015411 False Tessier number 6 facial cleft facial cleft UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015419 MONDO:0015411 False midline cervical cleft facial cleft UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015420 MONDO:0000358 False cleft lip and alveolus orofacial cleft UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015420 MONDO:0021147 False cleft lip and alveolus disorder of development or morphogenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015421 MONDO:0015375 False orofaciodigital syndrome type 12 orofaciodigital syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015422 MONDO:0015375 False orofaciodigital syndrome type 13 orofaciodigital syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015424 MONDO:0005516 False lethal chondrodysplasia, Moerman type osteochondrodysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015424 MONDO:0018230 False lethal chondrodysplasia, Moerman type skeletal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015425 MONDO:0003847 False lethal recessive chondrodysplasia hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015425 MONDO:0022723 False lethal recessive chondrodysplasia chondrodysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015426 MONDO:0003847 False Desbuquois dysplasia hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0015426 MONDO:0019755 False Desbuquois dysplasia developmental defect during embryogenesis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015427 MONDO:0016058 False paroxysmal dyskinesia paroxysmal dystonia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015428 MONDO:0019287 False choroidal atrophy-alopecia syndrome ectodermal dysplasia syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015429 MONDO:0019118 False choroideremia-hypopituitarism syndrome inherited retinal dystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015430 MONDO:0700008 False ring chromosome 1 chromosome 1 disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015430 MONDO:0700091 False ring chromosome 1 ring chromosome disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -27047,114 +24308,251 @@ MONDO:0015441 MONDO:0700091 False ring chromosome 7 ring chromosome disorder UNS MONDO:0015443 MONDO:0700015 False chromosome 8-derived supernumerary ring/marker chromosome 8 disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015443 MONDO:0700091 False chromosome 8-derived supernumerary ring/marker ring chromosome disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015445 MONDO:0000426 False autosomal dominant coarctation of aorta autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015445 MONDO:0007345 False autosomal dominant coarctation of aorta aorta coarctation UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015446 MONDO:0007345 False atypical coarctation of aorta aorta coarctation UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015448 MONDO:0000066 False mitochondrial complex III deficiency mitochondrial complex deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015449 MONDO:0019512 False criss-cross heart congenital heart malformation UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015450 MONDO:0019512 False triatrial heart congenital heart malformation UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015451 MONDO:0019820 False univentricular heart univentricular cardiopathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015452 MONDO:0003847 False Coffin-Siris syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0015452 MONDO:0005172 False Coffin-Siris syndrome skeletal system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015452 MONDO:0015159 False Coffin-Siris syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015453 MONDO:0000587 False Cogan syndrome autoimmune disease of ear, nose and throat UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0015453 MONDO:0005328 False Cogan syndrome eye disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0015454 MONDO:0019214 False multiple carboxylase deficiency inborn carbohydrate metabolic disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0015454 MONDO:0019215 False multiple carboxylase deficiency classic organic aciduria UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015454 MONDO:0020698 False multiple carboxylase deficiency inborn error of biotin metabolism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015455 MONDO:0004277 False gonococcal conjunctivitis gonorrhea UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015455 MONDO:0006668 False gonococcal conjunctivitis bacterial conjunctivitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015457 MONDO:0002254 False corpus callosum agenesis-double urinary collecting system syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015461 MONDO:0002254 False short rib-polydactyly syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015458 MONDO:0015159 False intellectual disability-hypoplastic corpus callosum-preauricular tag syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015459 MONDO:0017344 False nasopharyngeal carcinoma Epstein-Barr virus-associated carcinoma UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015461 MONDO:0015929 False short rib-polydactyly syndrome thoracic malformation UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015461 MONDO:0019691 False short rib-polydactyly syndrome short rib dysplasia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015462 MONDO:0018230 False thin ribs-tubular bones-dysmorphism syndrome skeletal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015463 MONDO:0015159 False craniodigital syndrome-intellectual disability syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015464 MONDO:0015856 False craniofrontonasal dysplasia-Poland anomaly syndrome syndromic breast hypoplasia/aplasia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015464 MONDO:0016643 False craniofrontonasal dysplasia-Poland anomaly syndrome frontonasal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015465 MONDO:0042973 False craniometaphyseal dysplasia familial osteosclerosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015466 MONDO:0016620 False cranio-osteoarthropathy primary hypertrophic osteoarthropathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015467 MONDO:0015338 False craniosynostosis, Philadelphia type syndromic craniosynostosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015468 MONDO:0015338 False craniosynostosis-cataract syndrome syndromic craniosynostosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015469 MONDO:0001411 False craniosynostosis synostosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0015469 MONDO:0003847 False craniosynostosis hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0015471 MONDO:0020073 False benign focal seizures of adolescence adolescent-onset epilepsy syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015473 MONDO:0015159 False cryptorchidism-arachnodactyly-intellectual disability syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015474 MONDO:0005707 False cryptosporidiosis coccidiosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0015474 MONDO:0024270 False cryptosporidiosis parasitic intestinal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015476 MONDO:0019755 False cysts and fistulae of the face and oral cavity developmental defect during embryogenesis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015476 MONDO:0024623 False cysts and fistulae of the face and oral cavity otorhinolaryngologic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015477 MONDO:0015476 False pinnae fistula or cyst cysts and fistulae of the face and oral cavity UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015479 MONDO:0016064 False submucosal cleft palate cleft palate UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015480 MONDO:0015411 False coloboma of superior eyelid facial cleft UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015480 MONDO:0020357 False coloboma of superior eyelid coloboma of eyelid UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015481 MONDO:0015411 False coloboma of inferior eyelid facial cleft UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015481 MONDO:0020357 False coloboma of inferior eyelid coloboma of eyelid UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015483 MONDO:0024623 False mandibulofacial dysostosis otorhinolaryngologic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015484 MONDO:0000367 False cysticercosis taeniasis UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0015486 MONDO:0003847 False keratoconus hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0015487 MONDO:0005217 False fatal infantile encephalocardiomyopathy familial cardiomyopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015487 MONDO:0009637 False fatal infantile encephalocardiomyopathy inborn mitochondrial myopathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0015487 MONDO:0016387 False fatal infantile encephalocardiomyopathy mitochondrial oxidative phosphorylation disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015491 MONDO:0018882 False immune complex mediated vasculitis vasculitis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015492 MONDO:0800113 False anti-neutrophil cytoplasmic antibody-associated vasculitis necrotizing vasculitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015494 MONDO:0044807 False isolated dystonia inherited dystonia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015496 MONDO:0019755 False macroglossia developmental defect during embryogenesis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015496 MONDO:0023369 False macroglossia disorder of facial skeleton UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015498 MONDO:0002254 False oromandibular-limb anomalies syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015498 MONDO:0018234 False oromandibular-limb anomalies syndrome dysostosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015500 MONDO:0001256 False facial arteriovenous malformation arteriovenous hemangioma/malformation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015514 MONDO:0005151 False hereditary endocrine growth disease endocrine system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015515 MONDO:0017716 False carnitine palmitoyltransferase II deficiency disorder of carnitine cycle and carnitine transport UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015516 MONDO:0017424 False symbrachydactyly of hands and feet non-syndromic brachydactyly UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015517 MONDO:0016463 False common variable immunodeficiency syndromic agammaglobulinemia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015517 MONDO:0015356 False common variable immunodeficiency hereditary neoplastic syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015517 MONDO:0060782 False common variable immunodeficiency premalignant hematological system disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015518 MONDO:0005559 False infantile bilateral striatal necrosis neurodegenerative disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015519 MONDO:0002320 False congenital or early infantile CACH syndrome congenital nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015519 MONDO:0800448 False congenital or early infantile CACH syndrome leukoencephalopathy with vanishing white matter UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015520 MONDO:0800448 False late infantile CACH syndrome leukoencephalopathy with vanishing white matter UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015521 MONDO:0800448 False juvenile or adult CACH syndrome leukoencephalopathy with vanishing white matter UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015524 MONDO:0015185 False hyperplastic polyposis syndrome intestinal polyposis syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015525 MONDO:0003847 False congenital pseudoarthrosis of the limbs hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015525 MONDO:0018234 False congenital pseudoarthrosis of the limbs dysostosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015526 MONDO:0018431 False cold-induced sweating syndrome cold-induced sweating syndrome - hyperthermia spectrum UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015528 MONDO:0003396 False congenital epulis epulis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0015528 MONDO:0006424 False congenital epulis soft tissue neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015528 MONDO:0006499 False congenital epulis hamartoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015528 MONDO:0021086 False congenital epulis gingival neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015528 MONDO:0021580 False congenital epulis neoplasm of jaw UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015529 MONDO:0015530 False paroxysmal Hemicrania trigeminal autonomic cephalalgia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015530 MONDO:0003543 False trigeminal autonomic cephalalgia trigeminal nerve disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015530 MONDO:0017181 False trigeminal autonomic cephalalgia hypnic headache UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015530 MONDO:0043218 False trigeminal autonomic cephalalgia neurovascular disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015540 MONDO:0002254 False hemophagocytic syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0015531 MONDO:0002637 False non-Langerhans cell histiocytosis histiocytosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0015532 MONDO:0015531 False generalized eruptive histiocytosis non-Langerhans cell histiocytosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015533 MONDO:0015531 False benign cephalic histiocytosis non-Langerhans cell histiocytosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015534 MONDO:0015531 False juvenile xanthogranuloma non-Langerhans cell histiocytosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0015535 MONDO:0015531 False xanthoma disseminatum non-Langerhans cell histiocytosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015536 MONDO:0015531 False papular xanthoma non-Langerhans cell histiocytosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015537 MONDO:0015531 False necrobiotic xanthogranuloma non-Langerhans cell histiocytosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015538 MONDO:0015531 False indeterminate dendritic cell tumor non-Langerhans cell histiocytosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015539 MONDO:0015531 False progressive nodular histiocytosis non-Langerhans cell histiocytosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015540 MONDO:0005833 False hemophagocytic syndrome lymphatic system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0015541 MONDO:0003778 False hereditary hemophagocytic lymphohistiocytosis inborn error of immunity UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015541 MONDO:0015540 False hereditary hemophagocytic lymphohistiocytosis hemophagocytic syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015544 MONDO:0015542 False acquired hemophagocytic lymphohistiocytosis associated with malignant disease secondary hemophagocytic lymphohistiocytosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015545 MONDO:0015542 False macrophage activation syndrome secondary hemophagocytic lymphohistiocytosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015546 MONDO:0016909 False non-distal monosomy 10q partial monosomy of the long arm of chromosome 10 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015547 MONDO:0001627 False hereditary dementia dementia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015547 MONDO:0003847 False hereditary dementia hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015548 MONDO:0000167 False Huntington disease-like syndrome Huntington disease and related disorders UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015548 MONDO:0015547 False Huntington disease-like syndrome hereditary dementia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015550 MONDO:0017610 False suprabasal epidermolysis bullosa simplex epidermolysis bullosa simplex UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015552 MONDO:0006543 False acral dystrophic epidermolysis bullosa epidermolysis bullosa dystrophica UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015553 MONDO:0006543 False dystrophic epidermolysis bullosa, nails only epidermolysis bullosa dystrophica UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015554 MONDO:0019316 False typical urticaria pigmentosa maculopapular cutaneous mastocytosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015555 MONDO:0019316 False plaque-form urticaria pigmentosa maculopapular cutaneous mastocytosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015556 MONDO:0019316 False nodular urticaria pigmentosa maculopapular cutaneous mastocytosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015557 MONDO:0020331 False Smouldering systemic mastocytosis indolent systemic mastocytosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015558 MONDO:0020331 False isolated bone marrow mastocytosis indolent systemic mastocytosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015562 MONDO:0016915 False distal monosomy 17q partial deletion of the long arm of chromosome 17 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015565 MONDO:0005265 False cap polyposis inflammatory bowel disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015566 MONDO:0016901 False 2q24 microdeletion syndrome partial deletion of the long arm of chromosome 2 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015567 MONDO:0002254 False cataract-glaucoma syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015567 MONDO:0024458 False cataract-glaucoma syndrome disorder of visual system UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015568 MONDO:0024623 False isolated congenital nasal pyriform aperture stenosis otorhinolaryngologic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015573 MONDO:0005282 False subacute cutaneous lupus erythematosus cutaneous lupus erythematosus UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015570 MONDO:0015604 False isolated congenital auditory ossicle malformation middle ear anomaly UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015571 MONDO:0016904 False deletion 5q35 partial deletion of the long arm of chromosome 5 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015573 MONDO:0020683 False subacute cutaneous lupus erythematosus acute disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015574 MONDO:0005282 False chronic cutaneous lupus erythematosus cutaneous lupus erythematosus UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015579 MONDO:0009369 False Hb Bart's hydrops fetalis non-immune hydrops fetalis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015579 MONDO:0011399 False Hb Bart's hydrops fetalis alpha thalassemia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015580 MONDO:0016906 False distal monosomy 7q36 partial deletion of the long arm of chromosome 7 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015583 MONDO:0016884 False 2p21 microdeletion syndrome partial deletion of the short arm of chromosome 2 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015584 MONDO:0020072 False febrile infection-related epilepsy syndrome childhood-onset epilepsy syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015585 MONDO:0020072 False cryptogenic late-onset epileptic spasms childhood-onset epilepsy syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015587 MONDO:0020072 False rolandic epilepsy-speech dyspraxia syndrome childhood-onset epilepsy syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015588 MONDO:0019956 False limbic encephalitis encephalitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0015589 MONDO:0015588 False paraneoplastic limbic encephalitis limbic encephalitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015589 MONDO:0018215 False paraneoplastic limbic encephalitis paraneoplastic neurologic syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015592 MONDO:0020068 False limbic encephalitis with LGI1 antibodies postinfectious encephalitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015595 MONDO:0015588 False posttransplant acute limbic encephalitis limbic encephalitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015595 MONDO:0700220 False posttransplant acute limbic encephalitis disease related to transplantation UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015596 MONDO:0015588 False non-herpetic acute limbic encephalitis limbic encephalitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015597 MONDO:0019268 False pustulosis palmaris et plantaris epidermal disease UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015599 MONDO:0005328 False atopic keratoconjunctivitis eye disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015600 MONDO:0020119 False X-linked intellectual disability, Cilliers type X-linked syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015604 MONDO:0019755 False middle ear anomaly developmental defect during embryogenesis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015604 MONDO:0024623 False middle ear anomaly otorhinolaryngologic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015605 MONDO:0008013 False distal monosomy 9p chromosome 9p deletion syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015605 MONDO:0020040 False distal monosomy 9p 46,XY disorder of sex development UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015606 MONDO:0017004 False Xp22.3 microdeletion syndrome partial monosomy of the short arm of chromosome X UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015607 MONDO:0000761 False partial chromosome Y deletion syndrome caused by partial chromosomal deletion UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015607 MONDO:0005372 False partial chromosome Y deletion male infertility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015607 MONDO:0700028 False partial chromosome Y deletion chromosome Y disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015608 MONDO:0019457 False acute myeloid leukemia and myelodysplastic syndromes related to radiation therapy related acute myeloid leukemia and myelodysplastic syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015609 MONDO:0003847 False advanced sleep phase syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0015609 MONDO:0024361 False advanced sleep phase syndrome circadian rhythm sleep disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015610 MONDO:0015909 False acquired aplastic anemia aplastic anemia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015611 MONDO:0018117 False neutral lipid storage disease disorder of phospholipids, sphingolipids and fatty acids biosynthesis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015611 MONDO:0019245 False neutral lipid storage disease lysosomal lipid storage disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0015612 MONDO:0006510 False Dent disease renal tubular transport disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0015612 MONDO:0015962 False Dent disease inherited renal tubular disease UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015613 MONDO:0002220 False dentin dysplasia tooth hard tissue disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0015614 MONDO:0019337 False dermatitis herpetiformis autoimmune bullous skin disease UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0015622 MONDO:0020568 False wound myiasis cutaneous myiasis UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015623 MONDO:0019147 False cavitary myiasis myiasis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015624 MONDO:0019010 False diazoxide-sensitive diffuse hyperinsulinism congenital isolated hyperinsulinism UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015625 MONDO:0017186 False diazoxide-resistant diffuse hyperinsulinism diazoxide-resistant hyperinsulinism UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015626 MONDO:0020127 False Charcot-Marie-Tooth disease hereditary peripheral neuropathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015627 MONDO:0004603 False multiple epiphyseal dysplasia due to collagen 9 anomaly collagenopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015627 MONDO:0016648 False multiple epiphyseal dysplasia due to collagen 9 anomaly multiple epiphyseal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0015627 MONDO:0023603 False multiple epiphyseal dysplasia due to collagen 9 anomaly hereditary disorder of connective tissue UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015628 MONDO:0013304 False von Willebrand disease type 2A von Willebrand disease 2 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015629 MONDO:0013304 False von Willebrand disease type 2B von Willebrand disease 2 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015630 MONDO:0013304 False von Willebrand disease type 2M von Willebrand disease 2 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015631 MONDO:0013304 False von Willebrand disease type 2N von Willebrand disease 2 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015632 MONDO:0016387 False FASTKD2-related infantile mitochondrial encephalomyopathy mitochondrial oxidative phosphorylation disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015634 MONDO:0001414 False isolated osteopoikilosis osteopoikilosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015635 MONDO:0005073 False porokeratotic eccrine ostial and dermal duct nevus melanocytic nevus UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015635 MONDO:0024247 False porokeratotic eccrine ostial and dermal duct nevus benign eccrine neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015635 MONDO:0024482 False porokeratotic eccrine ostial and dermal duct nevus eccrine sweat gland hamartoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015636 MONDO:0005943 False dirofilariasis Rhabditida infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015636 MONDO:0016075 False dirofilariasis filariasis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0015637 MONDO:0015642 False benign non-familial infantile seizures benign partial infantile seizures UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015638 MONDO:0015637 False benign partial epilepsy of infancy with complex partial seizures benign non-familial infantile seizures UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015639 MONDO:0015637 False benign partial epilepsy with secondarily generalized seizures in infancy benign non-familial infantile seizures UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015640 MONDO:0015642 False benign infantile seizures associated with mild gastroenteritis benign partial infantile seizures UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015641 MONDO:0015642 False benign infantile focal epilepsy with midline spikes and wave during sleep benign partial infantile seizures UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015642 MONDO:0020071 False benign partial infantile seizures infantile epilepsy syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015643 MONDO:0023224 False photosensitive epilepsy inherited reflex epilepsy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015643 MONDO:0043459 False photosensitive epilepsy radiation-induced disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015644 MONDO:0017768 False audiogenic seizures reflex epilepsy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015645 MONDO:0017768 False eating seizures reflex epilepsy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015646 MONDO:0017768 False orgasm-induced seizures reflex epilepsy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015647 MONDO:0017768 False thinking seizures reflex epilepsy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015648 MONDO:0017768 False startle epilepsy reflex epilepsy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015649 MONDO:0017768 False micturation-induced seizures reflex epilepsy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015650 MONDO:0005027 False epilepsy syndrome epilepsy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015653 MONDO:0003847 False monogenic epilepsy hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015653 MONDO:0005027 False monogenic epilepsy epilepsy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015660 MONDO:0002602 False sporadic fetal brain disruption sequence central nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015663 MONDO:0002254 False diencephalic syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015661 MONDO:0005453 False dextrocardia congenital heart disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0015661 MONDO:0018677 False dextrocardia visceral heterotaxy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0015663 MONDO:0005151 False diencephalic syndrome endocrine system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015664 MONDO:0020292 False idiopathic pulmonary artery dilatation congenital anomaly of the great arteries UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015664 MONDO:0700007 False idiopathic pulmonary artery dilatation idiopathic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015665 MONDO:0018432 False scleromyxedema lichen myxedematosus UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015666 MONDO:0019512 False familial idiopathic dilatation of the right atrium congenital heart malformation UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015666 MONDO:0700007 False familial idiopathic dilatation of the right atrium idiopathic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015672 MONDO:0021147 False diprosopus disorder of development or morphogenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015674 MONDO:0002561 False late infantile neuronal ceroid lipofuscinosis lysosomal storage disease UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015675 MONDO:0005135 False distomatosis parasitic infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015677 MONDO:0019512 False cardiac diverticulum congenital heart malformation UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015678 MONDO:0018230 False dysplasia of head of femur, Meyer type skeletal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015686 MONDO:0002113 False primary peritoneal carcinoma peritoneal carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015691 MONDO:0002254 False hypereosinophilic syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0015688 MONDO:0015756 False myeloid/lymphoid neoplasms associated with eosinophilia and abnormality of PDGFRA, PDGFRB, FGFR1 or JAK2 myeloid hemopathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015691 MONDO:0016345 False hypereosinophilic syndrome non-familial restrictive cardiomyopathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015691 MONDO:0044972 False hypereosinophilic syndrome eosinophil disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015692 MONDO:0018881 False refractory anemia with excess blasts in transformation myelodysplastic syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015694 MONDO:0005105 False malignant melanoma of the mucosa melanoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015695 MONDO:0015131 False combined immunodeficiency due to CRAC channel dysfunction combined immunodeficiency UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015696 MONDO:0015977 False Good syndrome agammaglobulinemia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0015696 MONDO:0017769 False Good syndrome acquired immunodeficiency UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015697 MONDO:0003778 False immunoglobulin heavy chain deficiency inborn error of immunity UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015699 MONDO:0003832 False immunodeficiency due to a classical component pathway complement deficiency complement deficiency UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015700 MONDO:0003832 False immunodeficiency due to a late component of complement deficiency complement deficiency UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015701 MONDO:0021147 False T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiency disorder of development or morphogenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015701 MONDO:0044200 False T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiency T-B+ severe combined immunodeficiency UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015702 MONDO:0044200 False T-B+ severe combined immunodeficiency due to CD45 deficiency T-B+ severe combined immunodeficiency UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015703 MONDO:0044200 False T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta T-B+ severe combined immunodeficiency UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015704 MONDO:0015338 False familial scaphocephaly syndrome syndromic craniosynostosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015705 MONDO:0018947 False autosomal recessive centronuclear myopathy centronuclear myopathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0015705 MONDO:0100493 False autosomal recessive centronuclear myopathy autosomal recessive titinopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015706 MONDO:0700008 False mosaic trisomy 1 chromosome 1 disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015706 MONDO:0700065 False mosaic trisomy 1 trisomy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015708 MONDO:0003778 False immuno-osseous dysplasia inborn error of immunity UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015712 MONDO:0016961 False non-distal trisomy 10q partial duplication of the long arm of chromosome 10 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015713 MONDO:0019165 False idiopathic central precocious puberty central precocious puberty UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015713 MONDO:0700007 False idiopathic central precocious puberty idiopathic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015714 MONDO:0019165 False secondary central precocious puberty central precocious puberty UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015715 MONDO:0010604 False severe hemophilia B hemophilia B UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015716 MONDO:0010604 False moderately severe hemophilia B hemophilia B UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015717 MONDO:0010604 False mild hemophilia B hemophilia B UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015718 MONDO:0700019 False mosaic trisomy 12 chromosome 12 disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015718 MONDO:0700065 False mosaic trisomy 12 trisomy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015719 MONDO:0010602 False severe hemophilia A hemophilia A UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015720 MONDO:0010602 False moderately severe hemophilia A hemophilia A UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015721 MONDO:0010602 False mild hemophilia A hemophilia A UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015722 MONDO:0002242 False congenital vitamin K-dependent coagulation factors deficiency coagulation protein disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015722 MONDO:0002243 False congenital vitamin K-dependent coagulation factors deficiency hemorrhagic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0015722 MONDO:0009332 False congenital vitamin K-dependent coagulation factors deficiency congenital hematological disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015722 MONDO:0021181 False congenital vitamin K-dependent coagulation factors deficiency inherited blood coagulation disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015723 MONDO:0016933 False trisomy 12p partial trisomy/tetrasomy of the short arm of chromosome 12 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015724 MONDO:0022177 False non-distal trisomy 13q chromosome 13q trisomy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015725 MONDO:0700021 False mosaic trisomy 14 chromosome 14 disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015725 MONDO:0700065 False mosaic trisomy 14 trisomy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015726 MONDO:0002254 False distal trisomy 14q syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015726 MONDO:0016964 False distal trisomy 14q partial duplication of the long arm of chromosome 14 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015727 MONDO:0700022 False mosaic trisomy 15 chromosome 15 disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015727 MONDO:0700065 False mosaic trisomy 15 trisomy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015728 MONDO:0017806 False distal trisomy 15q 15q overgrowth syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015729 MONDO:0022180 False mosaic trisomy 16 chromosome 16 trisomy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015730 MONDO:0020583 False mosaic trisomy 17 chromosome 17 disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015730 MONDO:0700065 False mosaic trisomy 17 trisomy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -27163,58 +24561,139 @@ MONDO:0015732 MONDO:0021147 False intermediate anorectal malformation disorder o MONDO:0015733 MONDO:0021147 False low anorectal malformation disorder of development or morphogenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015734 MONDO:0019938 False rectal duplication anorectal malformation UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015735 MONDO:0002320 False severe congenital nemaline myopathy congenital nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015735 MONDO:0016193 False severe congenital nemaline myopathy qualitative or quantitative defects of alpha-actin UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015735 MONDO:0016194 False severe congenital nemaline myopathy qualitative or quantitative defects of nebulin UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015735 MONDO:0018958 False severe congenital nemaline myopathy nemaline myopathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015736 MONDO:0002320 False intermediate nemaline myopathy congenital nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015736 MONDO:0005336 False intermediate nemaline myopathy myopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015736 MONDO:0016193 False intermediate nemaline myopathy qualitative or quantitative defects of alpha-actin UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015736 MONDO:0016194 False intermediate nemaline myopathy qualitative or quantitative defects of nebulin UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015736 MONDO:0017303 False intermediate nemaline myopathy qualitative or quantitative defects of tropomyosin UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015737 MONDO:0002320 False typical nemaline myopathy congenital nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015737 MONDO:0016193 False typical nemaline myopathy qualitative or quantitative defects of alpha-actin UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015737 MONDO:0016194 False typical nemaline myopathy qualitative or quantitative defects of nebulin UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015737 MONDO:0017303 False typical nemaline myopathy qualitative or quantitative defects of tropomyosin UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015737 MONDO:0018958 False typical nemaline myopathy nemaline myopathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015738 MONDO:0002320 False childhood-onset nemaline myopathy congenital nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015738 MONDO:0016193 False childhood-onset nemaline myopathy qualitative or quantitative defects of alpha-actin UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015738 MONDO:0016194 False childhood-onset nemaline myopathy qualitative or quantitative defects of nebulin UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015738 MONDO:0017303 False childhood-onset nemaline myopathy qualitative or quantitative defects of tropomyosin UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015738 MONDO:0018958 False childhood-onset nemaline myopathy nemaline myopathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015739 MONDO:0002320 False adult-onset nemaline myopathy congenital nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015739 MONDO:0016193 False adult-onset nemaline myopathy qualitative or quantitative defects of alpha-actin UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015739 MONDO:0016194 False adult-onset nemaline myopathy qualitative or quantitative defects of nebulin UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015739 MONDO:0018958 False adult-onset nemaline myopathy nemaline myopathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015740 MONDO:0016951 False trisomy 18p partial trisomy/tetrasomy of the short arm of chromosome 18 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015741 MONDO:0016968 False distal trisomy 18q partial trisomy of the long arm of chromosome 18 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015743 MONDO:0024623 False idiopathic bilateral vestibulopathy otorhinolaryngologic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015743 MONDO:0700007 False idiopathic bilateral vestibulopathy idiopathic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015744 MONDO:0016969 False distal trisomy 19q partial duplication of the long arm of chromosome 19 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015745 MONDO:0021147 False microcephaly-polymicrogyria-corpus callosum agenesis syndrome disorder of development or morphogenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015746 MONDO:0018394 False male infertility due to globozoospermia male infertility with teratozoospermia due to single gene mutation UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015748 MONDO:0005073 False hereditary mucosal leukokeratosis melanocytic nevus UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015748 MONDO:0100118 False hereditary mucosal leukokeratosis hereditary skin disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015749 MONDO:0016905 False 6q16 deletion syndrome partial deletion of the long arm of chromosome 6 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015749 MONDO:0018354 False 6q16 deletion syndrome Prader-Willi-like syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015751 MONDO:0015338 False craniosynostosis-hydrocephalus-Arnold-Chiari malformation type I-radioulnar synostosis syndrome syndromic craniosynostosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015752 MONDO:0002254 False intellectual disability-cataracts-kyphosis syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015753 MONDO:0100084 False cap myopathy alpha-actinopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015753 MONDO:0100108 False cap myopathy TPM3-related myopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015756 MONDO:0045024 False myeloid hemopathy cancer or benign tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015755 MONDO:0019952 False myopathy with hexagonally cross-linked tubular arrays congenital myopathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015756 MONDO:0005570 False myeloid hemopathy hematologic disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015756 MONDO:0045024 False myeloid hemopathy cell proliferation disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015757 MONDO:0002334 False lymphoid hemopathy hematopoietic and lymphoid system neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015762 MONDO:0002254 False progressive familial intrahepatic cholestasis syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0015758 MONDO:0015760 False primary cutaneous T-cell lymphoma T-cell non-Hodgkin lymphoma UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015758 MONDO:0018898 False primary cutaneous T-cell lymphoma primary cutaneous lymphoma UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015761 MONDO:0016947 False trisomy 10p partial duplication of the short arm of chromosome 10 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015762 MONDO:0017290 False progressive familial intrahepatic cholestasis familial intrahepatic cholestasis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015762 MONDO:0017755 False progressive familial intrahepatic cholestasis inborn disorder of bilirubin metabolism UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015763 MONDO:0700009 False mosaic trisomy 2 chromosome 2 disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015763 MONDO:0700065 False mosaic trisomy 2 trisomy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015764 MONDO:0022757 False mosaic trisomy 20 chromosome 20 trisomy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015766 MONDO:0000314 False cholera primary bacterial infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0015766 MONDO:0007014 False cholera vibrio infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015770 MONDO:0018555 False congenital hypogonadotropic hypogonadism hypogonadotropic hypogonadism UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015767 MONDO:0016941 False trisomy 4p partial duplication of the short arm of chromosome 4 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015768 MONDO:0016942 False trisomy 5p partial trisomy/tetrasomy of the short arm of chromosome 5 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015768 MONDO:0019716 False trisomy 5p overgrowth syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015769 MONDO:0016943 False distal trisomy 6p partial duplication of the short arm of chromosome 6 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015770 MONDO:0019824 False congenital hypogonadotropic hypogonadism non-acquired pituitary hormone deficiency UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015771 MONDO:0700014 False mosaic trisomy 7 chromosome 7 disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015771 MONDO:0700065 False mosaic trisomy 7 trisomy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015772 MONDO:0016959 False trisomy 8q partial duplication of the long arm of chromosome 8 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015773 MONDO:0019054 False fibular dimelia-diplopodia syndrome congenital limb malformation UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015774 MONDO:0002254 False thoraco-abdominal enteric duplication syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015774 MONDO:0004335 False thoraco-abdominal enteric duplication digestive system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015775 MONDO:0019701 False non-rhizomelic chondrodysplasia punctata chondrodysplasia punctata UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015776 MONDO:0005328 False rhizomelic chondrodysplasia punctata eye disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0015776 MONDO:0017986 False rhizomelic chondrodysplasia punctata disorder of plasmalogens biosynthesis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015779 MONDO:0017975 False 45,X/46,XY mixed gonadal dysgenesis sex chromosome disorder of sex development UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015780 MONDO:0015356 False dyskeratosis congenita hereditary neoplastic syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015780 MONDO:0019287 False dyskeratosis congenita ectodermal dysplasia syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS +MONDO:0015781 MONDO:0015159 False facial dysmorphism-shawl scrotum-joint laxity syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015782 MONDO:0003847 False dysmorphism-cleft palate-loose skin syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015783 MONDO:0020301 False Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 Prader-Willi syndrome due to paternal 15q11q13 deletion UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015784 MONDO:0020301 False Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 Prader-Willi syndrome due to paternal 15q11q13 deletion UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015785 MONDO:0008300 False Prader-Willi syndrome due to translocation Prader-Willi syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015786 MONDO:0008300 False Prader-Willi syndrome due to imprinting mutation Prader-Willi syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015787 MONDO:0010602 False symptomatic form of hemophilia A in female carriers hemophilia A UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015788 MONDO:0010604 False symptomatic form of hemophilia B in female carriers hemophilia B UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015790 MONDO:0015127 False central diabetes insipidus pituitary deficiency UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015790 MONDO:0100070 False central diabetes insipidus neuroendocrine disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015791 MONDO:0000088 False peripheral precocious puberty precocious puberty UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015792 MONDO:0018612 False transient congenital hypothyroidism congenital hypothyroidism UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015793 MONDO:0018948 False moderate multiminicore disease with hand involvement multiminicore myopathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015794 MONDO:0018948 False antenatal multiminicore disease with arthrogryposis multiplex congenita multiminicore myopathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015795 MONDO:0024477 False undifferentiated embryonal sarcoma of the liver liver and intrahepatic bile duct neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015796 MONDO:0005275 False acute lung injury lung disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015796 MONDO:0020683 False acute lung injury acute disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015796 MONDO:0021178 False acute lung injury injury UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015797 MONDO:0006025 False UV-sensitive syndrome autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0015797 MONDO:0015951 False UV-sensitive syndrome hereditary photodermatosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015797 MONDO:0021190 False UV-sensitive syndrome DNA repair disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015799 MONDO:0016761 False Smith-McCort dysplasia spondyloepiphyseal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0015800 MONDO:0015338 False osteosclerosis-developmental delay-craniosynostosis syndrome syndromic craniosynostosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015801 MONDO:0002242 False hemorrhagic disease due to alpha-1-antitrypsin Pittsburgh mutation coagulation protein disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015801 MONDO:0002243 False hemorrhagic disease due to alpha-1-antitrypsin Pittsburgh mutation hemorrhagic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015802 MONDO:0000509 False autosomal dominant non-syndromic intellectual disability non-syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0015802 MONDO:0100172 False autosomal dominant non-syndromic intellectual disability intellectual disability, autosomal dominant UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015803 MONDO:0016468 False wound botulism toxin-mediated infectious botulism UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015804 MONDO:0015805 False infant botulism intestinal botulism UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0015805 MONDO:0016468 False intestinal botulism toxin-mediated infectious botulism UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015806 MONDO:0015805 False adult intestinal botulism intestinal botulism UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015807 MONDO:0003847 False myopic macular degeneration hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015807 MONDO:0005283 False myopic macular degeneration retinal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015808 MONDO:0021655 False folliculotropic mycosis fungoides secondary catabolic mucinosis of skin UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015810 MONDO:0015816 False primary cutaneous CD4+ small/medium-sized pleomorphic T-cell lymphoma indolent primary cutaneous T-cell lymphoma UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015811 MONDO:0015758 False primary cutaneous aggressive epidermotropic CD8+ T-cell lymphoma primary cutaneous T-cell lymphoma UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015812 MONDO:0015758 False primary cutaneous gamma/delta-positive T-cell lymphoma primary cutaneous T-cell lymphoma UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015813 MONDO:0015819 False primary cutaneous marginal zone B-cell lymphoma indolent primary cutaneous B-cell lymphoma UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015814 MONDO:0015819 False primary cutaneous follicle center lymphoma indolent primary cutaneous B-cell lymphoma UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015816 MONDO:0015758 False indolent primary cutaneous T-cell lymphoma primary cutaneous T-cell lymphoma UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015819 MONDO:0000621 False indolent primary cutaneous B-cell lymphoma immune system cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015819 MONDO:0015820 False indolent primary cutaneous B-cell lymphoma primary cutaneous B-cell lymphoma UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015819 MONDO:0017594 False indolent primary cutaneous B-cell lymphoma indolent B-cell non-Hodgkin lymphoma UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015820 MONDO:0018898 False primary cutaneous B-cell lymphoma primary cutaneous lymphoma UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015821 MONDO:0015816 False mycosis fungoides and variants indolent primary cutaneous T-cell lymphoma UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015824 MONDO:0002254 False oculomaxillofacial dysostosis syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015824 MONDO:0003847 False oculomaxillofacial dysostosis hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015824 MONDO:0018234 False oculomaxillofacial dysostosis dysostosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015824 MONDO:0023369 False oculomaxillofacial dysostosis disorder of facial skeleton UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015826 MONDO:0000359 False autosomal dominant spondylocostal dysostosis spondylocostal dysostosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015826 MONDO:0000426 False autosomal dominant spondylocostal dysostosis autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015827 MONDO:0100191 False distal renal tubular acidosis inherited kidney disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015830 MONDO:0019128 False partial bilateral aplasia of the mullerian ducts mullerian aplasia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015831 MONDO:0019128 False unilateral aplasia of the mullerian ducts mullerian aplasia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015832 MONDO:0015831 False true unicornuate uterus unilateral aplasia of the mullerian ducts UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015833 MONDO:0015831 False pseudounicornuate uterus unilateral aplasia of the mullerian ducts UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015834 MONDO:0015842 False didelphys uterus bicornuate uterus UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015835 MONDO:0015834 False Bicervical bicornuate uterus and blind hemivagina didelphys uterus UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015836 MONDO:0015834 False Bicervical bicornuate uterus with patent cervix and vagina didelphys uterus UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015838 MONDO:0002654 False cordiform uterus uterine disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015838 MONDO:0021147 False cordiform uterus disorder of development or morphogenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015839 MONDO:0002654 False septate uterus uterine disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015839 MONDO:0021147 False septate uterus disorder of development or morphogenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015840 MONDO:0015839 False complete septate uterus septate uterus UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015841 MONDO:0015839 False partial septate uterus septate uterus UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015842 MONDO:0002654 False bicornuate uterus uterine disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015842 MONDO:0021147 False bicornuate uterus disorder of development or morphogenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015843 MONDO:0002654 False uterine hypoplasia uterine disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -27233,113 +24712,201 @@ MONDO:0015856 MONDO:0002657 False syndromic breast hypoplasia/aplasia breast dis MONDO:0015863 MONDO:0003578 False polyembryoma extragonadal nonseminomatous germ cell tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015872 MONDO:0000620 False giant adenofibroma of the breast breast benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015874 MONDO:0021100 False benign ductal tumor of breast breast neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015883 MONDO:0019287 False hidrotic ectodermal dysplasia, Halal type ectodermal dysplasia syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015884 MONDO:0000426 False autosomal dominant hypohidrotic ectodermal dysplasia autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015892 MONDO:0002254 False growth hormone insensitivity syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015884 MONDO:0016535 False autosomal dominant hypohidrotic ectodermal dysplasia hypohidrotic ectodermal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015892 MONDO:0015514 False growth hormone insensitivity syndrome hereditary endocrine growth disease UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015898 MONDO:0005495 False adrenogenital syndrome adrenal gland disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015898 MONDO:0045012 False adrenogenital syndrome steroid metabolism disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015900 MONDO:0005495 False hypoaldosteronism disease adrenal gland disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015903 MONDO:0021187 False hyperalphalipoproteinemia hyperlipidemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015903 MONDO:0037748 False hyperalphalipoproteinemia hyperlipoproteinemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015905 MONDO:0002254 False syndromic dyslipidemia syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015905 MONDO:0002525 False syndromic dyslipidemia inherited lipid metabolism disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015908 MONDO:0000255 False chromomycosis subcutaneous mycosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0015908 MONDO:0002040 False chromomycosis dermatomycosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0015912 MONDO:0002254 False macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0015912 MONDO:0018795 False macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss syndromic constitutional thrombocytopenia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015914 MONDO:0005071 False primary orthostatic hypotension nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015923 MONDO:0005244 False acquired peripheral neuropathy peripheral neuropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015924 MONDO:0005149 False pulmonary arterial hypertension pulmonary hypertension UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015927 MONDO:0005749 False idiopathic eosinophilic pneumonia eosinophilic pneumonia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015927 MONDO:0700007 False idiopathic eosinophilic pneumonia idiopathic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015929 MONDO:0020001 False thoracic malformation respiratory or thoracic malformation UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015935 MONDO:0002598 False extragonadal germinoma germinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015935 MONDO:0003113 False extragonadal germinoma extragonadal germ cell cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015941 MONDO:0002254 False epiphyseal dysplasia-hearing loss-dysmorphism syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015943 MONDO:0002254 False eosinophilic granulomatosis with polyangiitis syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0015941 MONDO:0015159 False epiphyseal dysplasia-hearing loss-dysmorphism syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015942 MONDO:0018233 False frontometaphyseal dysplasia otopalatodigital syndrome spectrum disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0015943 MONDO:0012105 False eosinophilic granulomatosis with polyangiitis granulomatosis with polyangiitis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0015944 MONDO:0002254 False axial mesodermal dysplasia spectrum syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015944 MONDO:0021147 False axial mesodermal dysplasia spectrum disorder of development or morphogenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015947 MONDO:0019269 False inherited ichthyosis ichthyosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015947 MONDO:0100118 False inherited ichthyosis hereditary skin disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015951 MONDO:0100118 False hereditary photodermatosis hereditary skin disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015962 MONDO:0021568 False inherited renal tubular disease renal tubule disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015962 MONDO:0100191 False inherited renal tubular disease inherited kidney disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015967 MONDO:0005015 False monogenic diabetes diabetes mellitus UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015967 MONDO:0019052 False monogenic diabetes inborn errors of metabolism UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015977 MONDO:0002211 False agammaglobulinemia B cell deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0015978 MONDO:0004805 False functional neutrophil defect leukocyte disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015979 MONDO:0020573 False hereditary predisposition to infections inherited disease susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015985 MONDO:0018230 False bone dysplasia, Azouz type skeletal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015987 MONDO:0002254 False scimitar syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015987 MONDO:0017705 False scimitar syndrome congenital pulmonary venous return anomaly UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015988 MONDO:0002473 False multicystic dysplastic kidney cystic kidney disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015987 MONDO:0020292 False scimitar syndrome congenital anomaly of the great arteries UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015988 MONDO:0021147 False multicystic dysplastic kidney disorder of development or morphogenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015990 MONDO:0015494 False focal, segmental or multifocal dystonia isolated dystonia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015993 MONDO:0019118 False cone-rod dystrophy inherited retinal dystrophy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0015994 MONDO:0020120 False muscular dystrophy-white matter spongiosis syndrome skeletal muscle disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015995 MONDO:0018230 False melorheostosis with osteopoikilosis skeletal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015997 MONDO:0001176 False ectopia lentis-chorioretinal dystrophy-myopia syndrome lens disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015997 MONDO:0019118 False ectopia lentis-chorioretinal dystrophy-myopia syndrome inherited retinal dystrophy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015999 MONDO:0003847 False primary pigmented nodular adrenocortical disease hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0016000 MONDO:0007796 False familial isolated hypoparathyroidism due to impaired PTH secretion hypoparathyroidism, familial isolated 1 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016001 MONDO:0005071 False 2-hydroxyglutaric aciduria nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0016002 MONDO:0005328 False Ehlers-Danlos syndrome, kyphoscoliotic type 1 eye disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0016002 MONDO:0023603 False Ehlers-Danlos syndrome, kyphoscoliotic type 1 hereditary disorder of connective tissue UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016002 MONDO:0006025 False Ehlers-Danlos syndrome, kyphoscoliotic type 1 autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0016003 MONDO:0000314 False ehrlichiosis primary bacterial infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0016003 MONDO:0006922 False ehrlichiosis Anaplasmataceae infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016003 MONDO:0025294 False ehrlichiosis tick-borne infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016004 MONDO:0016677 False aminopterin/methotrexate embryofetopathy toxic or drug-related embryofetopathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016005 MONDO:0016677 False indomethacin embryofetopathy toxic or drug-related embryofetopathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016006 MONDO:0006025 False Cockayne syndrome autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0016006 MONDO:0015327 False Cockayne syndrome developmental anomaly of metabolic origin UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016006 MONDO:0015333 False Cockayne syndrome progeroid syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0016006 MONDO:0021190 False Cockayne syndrome DNA repair disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016008 MONDO:0002254 False fetal hydantoin syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016010 MONDO:0002254 False vitamin K-antagonist embryofetopathy syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016011 MONDO:0002254 False fetal alcohol syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0016007 MONDO:0016677 False cocaine embryofetopathy toxic or drug-related embryofetopathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016008 MONDO:0016677 False fetal hydantoin syndrome toxic or drug-related embryofetopathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016009 MONDO:0016677 False fetal trimethadione syndrome toxic or drug-related embryofetopathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016010 MONDO:0016677 False vitamin K-antagonist embryofetopathy toxic or drug-related embryofetopathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016011 MONDO:0000408 False fetal alcohol syndrome fetal alcohol spectrum disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0016011 MONDO:0016677 False fetal alcohol syndrome toxic or drug-related embryofetopathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016012 MONDO:0005039 False diethylstilbestrol syndrome reproductive system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016012 MONDO:0016677 False diethylstilbestrol syndrome toxic or drug-related embryofetopathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016013 MONDO:0016677 False fetal methylmercury syndrome toxic or drug-related embryofetopathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016014 MONDO:0016677 False fetal minoxidil syndrome toxic or drug-related embryofetopathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016015 MONDO:0016677 False phenobarbital embryopathy toxic or drug-related embryofetopathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016016 MONDO:0016677 False toluene embryopathy toxic or drug-related embryofetopathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016016 MONDO:0700092 False toluene embryopathy neurodevelopmental disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016017 MONDO:0002254 False methimazole embryofetopathy syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016017 MONDO:0016677 False methimazole embryofetopathy toxic or drug-related embryofetopathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016018 MONDO:0021147 False diabetic embryopathy disorder of development or morphogenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016019 MONDO:0020068 False Rasmussen subacute encephalitis postinfectious encephalitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016019 MONDO:0100028 False Rasmussen subacute encephalitis immune epilepsy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016020 MONDO:0016057 False frontal encephalocele isolated encephalocele UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016022 MONDO:0000412 False early myoclonic encephalopathy neonatal period electroclinical syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0016022 MONDO:0015653 False early myoclonic encephalopathy monogenic epilepsy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016022 MONDO:0016801 False early myoclonic encephalopathy mitochondrial substrate carrier disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016022 MONDO:0100022 False early myoclonic encephalopathy neonatal/infantile epilepsy syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016025 MONDO:0002254 False myoclonic-astatic epilepsy syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016025 MONDO:0015653 False myoclonic-astatic epilepsy monogenic epilepsy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016025 MONDO:0019216 False myoclonic-astatic epilepsy inborn disorder of amino acid transport UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016025 MONDO:0020072 False myoclonic-astatic epilepsy childhood-onset epilepsy syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016026 MONDO:0020071 False infant epilepsy with migrant focal crisis infantile epilepsy syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016027 MONDO:0000412 False benign neonatal seizures neonatal period electroclinical syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0016027 MONDO:0015653 False benign neonatal seizures monogenic epilepsy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016027 MONDO:0020070 False benign neonatal seizures neonatal epilepsy syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016028 MONDO:0003847 False erythromelalgia hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0016028 MONDO:0005294 False erythromelalgia peripheral vascular disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0016030 MONDO:0002254 False Evans syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0016029 MONDO:0016713 False esthesioneuroblastoma central nervous system Ewing sarcoma/peripheral primitive neuroectodermal tumor UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016030 MONDO:0004680 False Evans syndrome primary thrombocytopenia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0016030 MONDO:0019098 False Evans syndrome autoimmune thrombocytopenia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016030 MONDO:0020108 False Evans syndrome autoimmune hemolytic anemia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0016031 MONDO:0015161 False facial dysmorphism-anorexia-cachexia-eye and skin anomalies syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016032 MONDO:0018234 False femoral agenesis/hypoplasia dysostosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016032 MONDO:0019713 False femoral agenesis/hypoplasia non-syndromic limb reduction defect UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016033 MONDO:0003847 False Cornelia de Lange syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0016033 MONDO:0015159 False Cornelia de Lange syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016033 MONDO:0018234 False Cornelia de Lange syndrome dysostosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0016033 MONDO:0019054 False Cornelia de Lange syndrome congenital limb malformation UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016035 MONDO:0003429 False Nelson syndrome functioning pituitary gland adenoma UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0016038 MONDO:0016037 False calcified aponeurotic fibroma superficial Fibromatosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016039 MONDO:0016037 False infantile digital fibromatosis superficial Fibromatosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016040 MONDO:0001292 False harlequin syndrome autonomic nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016041 MONDO:0021147 False congenital microgastria disorder of development or morphogenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016042 MONDO:0019832 False late-onset isolated ACTH deficiency acquired pituitary hormone deficiency UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016043 MONDO:0004747 False isolated cleft lip cleft lip UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016043 MONDO:0021147 False isolated cleft lip disorder of development or morphogenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016044 MONDO:0000358 False cleft lip/palate orofacial cleft UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016045 MONDO:0017975 False tetragametic chimerism sex chromosome disorder of sex development UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016046 MONDO:0003847 False familial clubfoot with or without associated lower limb anomalies hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016047 MONDO:0021166 False endophthalmitis inflammatory disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016047 MONDO:0043885 False endophthalmitis eye infectious disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016046 MONDO:0019054 False familial clubfoot with or without associated lower limb anomalies congenital limb malformation UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016048 MONDO:0017626 False isolated autosomal dominant hypomagnesemia, Glaudemans type familial primary hypomagnesemia with normocalcuria UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016049 MONDO:0016145 False congenital myopathy, Paradas type qualitative or quantitative defects of dysferlin UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016049 MONDO:0019950 False congenital myopathy, Paradas type congenital muscular dystrophy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016051 MONDO:0002254 False cleft lip-retinopathy syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016051 MONDO:0015161 False cleft lip-retinopathy syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016052 MONDO:0000594 False atypical autism pervasive developmental disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0016053 MONDO:0020022 False isolated cerebellar vermis hypoplasia central nervous system malformation UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016056 MONDO:0001149 False isolated congenital microcephaly microcephaly UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0016057 MONDO:0017078 False isolated encephalocele cephalocele UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016058 MONDO:0020065 False paroxysmal dystonia combined dystonia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016059 MONDO:0002254 False cleft lip/palate-deafness-sacral lipoma syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016060 MONDO:0002567 False laryngotracheoesophageal cleft tracheal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016060 MONDO:0003749 False laryngotracheoesophageal cleft esophageal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016061 MONDO:0012350 False immunodeficiency with factor H anomaly complement factor H deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016062 MONDO:0015411 False median cleft lip/mandibule facial cleft UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016063 MONDO:0000426 False Cowden disease autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0016063 MONDO:0100118 False Cowden disease hereditary skin disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016064 MONDO:0000358 False cleft palate orofacial cleft UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0016064 MONDO:0019755 False cleft palate developmental defect during embryogenesis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016065 MONDO:0015159 False cleft palate-short stature-vertebral anomalies syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016066 MONDO:0015929 False sternal cleft thoracic malformation UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016067 MONDO:0002254 False Crandall syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016068 MONDO:0005516 False fibrochondrogenesis osteochondrodysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0016068 MONDO:0018230 False fibrochondrogenesis skeletal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016070 MONDO:0002507 False hereditary gingival fibromatosis gingival overgrowth UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0016070 MONDO:0003847 False hereditary gingival fibromatosis hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0016070 MONDO:0021147 False hereditary gingival fibromatosis disorder of development or morphogenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016071 MONDO:0002300 False juvenile hyaline fibromatosis dermis tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016071 MONDO:0006424 False juvenile hyaline fibromatosis soft tissue neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016071 MONDO:0009229 False juvenile hyaline fibromatosis hyaline fibromatosis syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016071 MONDO:0019060 False juvenile hyaline fibromatosis bone neoplasm UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016071 MONDO:0023603 False juvenile hyaline fibromatosis hereditary disorder of connective tissue UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016071 MONDO:0100118 False juvenile hyaline fibromatosis hereditary skin disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016073 MONDO:0002254 False syndromic microphthalmia syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0016073 MONDO:0003847 False syndromic microphthalmia hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0016073 MONDO:0021129 False syndromic microphthalmia microphthalmia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0016077 MONDO:0016581 False congenital aortopulmonary window conotruncal heart malformations UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016078 MONDO:0020296 False congenital systemic arteriovenous fistula congenital arteriovenous fistula UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016079 MONDO:0007403 False sporadic Creutzfeldt-Jakob disease inherited Creutzfeldt-Jakob disease UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016080 MONDO:0005087 False congenital bronchobiliary fistula respiratory system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016080 MONDO:0021147 False congenital bronchobiliary fistula disorder of development or morphogenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016081 MONDO:0015203 False coronary arterial fistulas coronary artery congenital malformation UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016083 MONDO:0019296 False FLOTCH syndrome subcutaneous tissue disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016085 MONDO:0002254 False Cole-Carpenter syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0016085 MONDO:0015161 False Cole-Carpenter syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016085 MONDO:0018230 False Cole-Carpenter syndrome skeletal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016086 MONDO:0018381 False osteochondritis of tarsal/metatarsal bone osteochondrosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0016087 MONDO:0003847 False progressive non-infectious anterior vertebral fusion hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016087 MONDO:0015161 False progressive non-infectious anterior vertebral fusion multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016087 MONDO:0018234 False progressive non-infectious anterior vertebral fusion dysostosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016088 MONDO:0019236 False hypoxanthine-guanine phosphoribosyltransferase deficiency inborn disorder of purine metabolism UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016089 MONDO:0009499 False infantile Krabbe disease Krabbe disease UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016090 MONDO:0009499 False late-infantile/juvenile Krabbe disease Krabbe disease UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016091 MONDO:0009499 False adult Krabbe disease Krabbe disease UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016091 MONDO:0020143 False adult Krabbe disease cerebral lipidosis with dementia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016092 MONDO:0000646 False serous or mucinous cystadenoma of childhood ovarian benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016094 MONDO:0001402 False vaginal germ cell malignant tumor vaginal cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016094 MONDO:0006290 False vaginal germ cell malignant tumor malignant germ cell tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016097 MONDO:0016106 False symptomatic form of muscular dystrophy of Duchenne and Becker in female carriers progressive muscular dystrophy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016097 MONDO:0016333 False symptomatic form of muscular dystrophy of Duchenne and Becker in female carriers familial dilated cardiomyopathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016098 MONDO:0020122 False immune-mediated necrotizing myopathy acquired idiopathic inflammatory myopathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016099 MONDO:0020122 False overlap myositis acquired idiopathic inflammatory myopathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016100 MONDO:0005071 False rippling muscle disease with myasthenia gravis nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016100 MONDO:0021142 False rippling muscle disease with myasthenia gravis acquired rippling muscle disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016101 MONDO:0005108 False neurolymphomatosis viral infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016102 MONDO:0003334 False subacute inflammatory demyelinating polyneuropathy demyelinating polyneuropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016102 MONDO:0020683 False subacute inflammatory demyelinating polyneuropathy acute disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016103 MONDO:0016146 False isolated asymptomatic elevation of creatine phosphokinase caveolinopathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016103 MONDO:0016147 False isolated asymptomatic elevation of creatine phosphokinase qualitative or quantitative defects of dystrophin UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016105 MONDO:0020120 False acquired skeletal muscle disease skeletal muscle disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016106 MONDO:0020121 False progressive muscular dystrophy muscular dystrophy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016107 MONDO:0016106 False myotonic dystrophy progressive muscular dystrophy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016107 MONDO:0016120 False myotonic dystrophy myotonic syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016108 MONDO:0000426 False autosomal dominant distal myopathy autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016108 MONDO:0018949 False autosomal dominant distal myopathy distal myopathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016112 MONDO:0005336 False hereditary inclusion-body myopathy myopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016112 MONDO:0700223 False hereditary inclusion-body myopathy hereditary skeletal muscle disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016113 MONDO:0001516 False bulbospinal muscular atrophy spinal muscular atrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016120 MONDO:0002254 False myotonic syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016120 MONDO:0020120 False myotonic syndrome skeletal muscle disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016122 MONDO:0005071 False periodic paralysis nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016126 MONDO:0005108 False viral myositis viral infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016126 MONDO:0021167 False viral myositis myositis disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -27347,62 +24914,119 @@ MONDO:0016127 MONDO:0005113 False bacterial myositis bacterial infectious diseas MONDO:0016127 MONDO:0021167 False bacterial myositis myositis disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016128 MONDO:0005135 False parasitic myositis parasitic infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016128 MONDO:0023483 False parasitic myositis infectious myositis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016129 MONDO:0018438 False eosinophilic gastroenteritis eosinophilic gastrointestinal disease UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016130 MONDO:0002041 False fungal myositis fungal infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016130 MONDO:0021167 False fungal myositis myositis disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016139 MONDO:0005071 False qualitative or quantitative protein defects in neuromuscular diseases nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016140 MONDO:0016139 False sarcoglycanopathy qualitative or quantitative protein defects in neuromuscular diseases UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016141 MONDO:0003847 False qualitative or quantitative defects of alpha-sarcoglycan hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016141 MONDO:0016140 False qualitative or quantitative defects of alpha-sarcoglycan sarcoglycanopathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016142 MONDO:0003847 False qualitative or quantitative defects of beta-sarcoglycan hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016142 MONDO:0016140 False qualitative or quantitative defects of beta-sarcoglycan sarcoglycanopathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016143 MONDO:0003847 False qualitative or quantitative defects of gamma-sarcoglycan hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016143 MONDO:0016140 False qualitative or quantitative defects of gamma-sarcoglycan sarcoglycanopathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016144 MONDO:0003847 False qualitative or quantitative defects of delta-sarcoglycan hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016144 MONDO:0016140 False qualitative or quantitative defects of delta-sarcoglycan sarcoglycanopathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016145 MONDO:0003847 False qualitative or quantitative defects of dysferlin hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016145 MONDO:0016139 False qualitative or quantitative defects of dysferlin qualitative or quantitative protein defects in neuromuscular diseases UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016146 MONDO:0003847 False caveolinopathy hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016146 MONDO:0003939 False caveolinopathy muscle tissue disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016146 MONDO:0016139 False caveolinopathy qualitative or quantitative protein defects in neuromuscular diseases UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016147 MONDO:0016139 False qualitative or quantitative defects of dystrophin qualitative or quantitative protein defects in neuromuscular diseases UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016151 MONDO:0003847 False qualitative or quantitative defects of perlecan hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016151 MONDO:0016139 False qualitative or quantitative defects of perlecan qualitative or quantitative protein defects in neuromuscular diseases UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016153 MONDO:0003847 False qualitative or quantitative defects of TRIM32 hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016153 MONDO:0016139 False qualitative or quantitative defects of TRIM32 qualitative or quantitative protein defects in neuromuscular diseases UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016155 MONDO:0002320 False qualitative or quantitative defects of protein involved in O-glycosylation of alpha-dystroglycan congenital nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016155 MONDO:0017741 False qualitative or quantitative defects of protein involved in O-glycosylation of alpha-dystroglycan disorder of protein O-glycosylation UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016155 MONDO:0018282 False qualitative or quantitative defects of protein involved in O-glycosylation of alpha-dystroglycan qualitative or quantitative defects of alpha-dystroglycan UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016156 MONDO:0016155 False qualitative or quantitative defects of FKRP qualitative or quantitative defects of protein involved in O-glycosylation of alpha-dystroglycan UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016158 MONDO:0005560 False narcolepsy-cataplexy syndrome brain disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016158 MONDO:0021107 False narcolepsy-cataplexy syndrome narcolepsy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016159 MONDO:0020047 False Gemignani syndrome autosomal recessive syndromic cerebellar ataxia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016160 MONDO:0015653 False X-linked intellectual disability-epilepsy syndrome monogenic epilepsy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016160 MONDO:0020119 False X-linked intellectual disability-epilepsy syndrome X-linked syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016161 MONDO:0020022 False cerebral gigantism-jaw cysts syndrome central nervous system malformation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016162 MONDO:0017091 False bilateral frontal polymicrogyria bilateral polymicrogyria UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016164 MONDO:0006594 False herpetiform pemphigus pemphigus UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016165 MONDO:0001220 False hereditary hypoparathyroidism hypoparathyroidism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016165 MONDO:0003847 False hereditary hypoparathyroidism hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016166 MONDO:0001741 False hereditary hyperparathyroidism hyperparathyroidism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016166 MONDO:0003847 False hereditary hyperparathyroidism hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016167 MONDO:0001834 False optic pathway glioma visual pathway disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016167 MONDO:0016749 False optic pathway glioma tumor of cranial and spinal nerves UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016167 MONDO:0021211 False optic pathway glioma brain neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016168 MONDO:0005046 False cryopyrin-associated periodic syndrome immune system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016168 MONDO:0017953 False cryopyrin-associated periodic syndrome hereditary periodic fever syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016171 MONDO:0006915 False polyradiculoneuropathy associated with IgG/IgA/IgM monoclonal gammopathy without known antibodies polyradiculoneuropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016175 MONDO:0002051 False cutis laxa integumentary system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0016175 MONDO:0019755 False cutis laxa developmental defect during embryogenesis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016175 MONDO:0020159 False cutis laxa congenital entropion UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016176 MONDO:0015923 False axonal polyneuropathy associated with IgG/IgM/IgA monoclonal gammopathy acquired peripheral neuropathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016184 MONDO:0016155 False qualitative or quantitative defects of protein O-mannosyltransferase 1 qualitative or quantitative defects of protein involved in O-glycosylation of alpha-dystroglycan UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016185 MONDO:0016155 False qualitative or quantitative defects of protein O-mannosyltransferase 2 qualitative or quantitative defects of protein involved in O-glycosylation of alpha-dystroglycan UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016186 MONDO:0016139 False qualitative or quantitative defects of myofibrillar proteins qualitative or quantitative protein defects in neuromuscular diseases UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016187 MONDO:0003847 False qualitative or quantitative defects of desmin hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016187 MONDO:0016186 False qualitative or quantitative defects of desmin qualitative or quantitative defects of myofibrillar proteins UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016188 MONDO:0016186 False qualitative or quantitative defects of alphaB-cristallin qualitative or quantitative defects of myofibrillar proteins UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016189 MONDO:0016186 False qualitative or quantitative defects of filamin C qualitative or quantitative defects of myofibrillar proteins UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016190 MONDO:0016186 False qualitative or quantitative defects of protein ZASP qualitative or quantitative defects of myofibrillar proteins UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016191 MONDO:0016139 False qualitative or quantitative defects of titin qualitative or quantitative protein defects in neuromuscular diseases UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016192 MONDO:0003847 False qualitative or quantitative defects of telethonin hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016192 MONDO:0016139 False qualitative or quantitative defects of telethonin qualitative or quantitative protein defects in neuromuscular diseases UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016193 MONDO:0016139 False qualitative or quantitative defects of alpha-actin qualitative or quantitative protein defects in neuromuscular diseases UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016194 MONDO:0016139 False qualitative or quantitative defects of nebulin qualitative or quantitative protein defects in neuromuscular diseases UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016195 MONDO:0003847 False qualitative or quantitative defects of beta-myosin heavy chain (MYH7) hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016195 MONDO:0016139 False qualitative or quantitative defects of beta-myosin heavy chain (MYH7) qualitative or quantitative protein defects in neuromuscular diseases UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016197 MONDO:0016139 False qualitative or quantitative defects of selenoprotein N1 qualitative or quantitative protein defects in neuromuscular diseases UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016198 MONDO:0003847 False qualitative or quantitative defects of plectin hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016198 MONDO:0016139 False qualitative or quantitative defects of plectin qualitative or quantitative protein defects in neuromuscular diseases UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016199 MONDO:0016139 False qualitative or quantitative defects of protein SERCA1 qualitative or quantitative protein defects in neuromuscular diseases UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016202 MONDO:0000426 False autosomal dominant rhegmatogenous retinal detachment autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016202 MONDO:0005464 False autosomal dominant rhegmatogenous retinal detachment rhegmatogenous retinal detachment UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016203 MONDO:0005439 False hypercholesterolemia due to cholesterol 7alpha-hydroxylase deficiency familial hypercholesterolemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016203 MONDO:0019218 False hypercholesterolemia due to cholesterol 7alpha-hydroxylase deficiency inborn disorder of bile acid synthesis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016204 MONDO:0005154 False idiopathic copper-associated cirrhosis liver disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016204 MONDO:0700007 False idiopathic copper-associated cirrhosis idiopathic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016205 MONDO:0005328 False IRVAN syndrome eye disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016206 MONDO:0017258 False idiopathic uveal effusion syndrome idiopathic panuveitis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016207 MONDO:0017634 False phacoanaphylactic uveitis non-infectious anterior uveitis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016208 MONDO:0005020 False solitary rectal ulcer syndrome intestinal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016209 MONDO:0016210 False benign familial nocturnal alternating hemiplegia of childhood alternating hemiplegia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016210 MONDO:0700092 False alternating hemiplegia neurodevelopmental disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016211 MONDO:0040679 False non-papillary transitional cell carcinoma of the bladder urothelial carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016213 MONDO:0019289 False leukonychia totalis-acanthosis-nigricans-like lesions-abnormal hair syndrome hyperpigmentation of the skin UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016214 MONDO:0015925 False pulmonary fibrosis-hepatic hyperplasia-bone marrow hypoplasia syndrome interstitial lung disease UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016215 MONDO:0000396 False spastic quadriplegic cerebral palsy spastic cerebral palsy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0016215 MONDO:0003847 False spastic quadriplegic cerebral palsy hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0016217 MONDO:0024623 False mal de Debarquement otorhinolaryngologic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016218 MONDO:0002254 False Guillain-Barre syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0016218 MONDO:0000590 False Guillain-Barre syndrome autoimmune disorder of peripheral nervous system UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0016219 MONDO:0015161 False dysmorphism-pectus carinatum-joint laxity syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016220 MONDO:0002257 False congenital temporomandibular joint ankylosis ankylosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016220 MONDO:0005473 False congenital temporomandibular joint ankylosis temporomandibular joint disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016222 MONDO:0020664 False spindle cell hemangioma spindle cell neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016223 MONDO:0006500 False infantile hemangioma of rare localization hemangioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016225 MONDO:0005071 False specific learning disability nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016226 MONDO:0016225 False specific language disorder specific learning disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016227 MONDO:0100309 False hereditary episodic ataxia hereditary ataxia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0016231 MONDO:0005385 False capillary malformation vascular disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016237 MONDO:0024296 False diffuse neonatal hemangiomatosis vascular neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016239 MONDO:0019246 False cystinosis inborn disorder of lysosomal amino acid transport UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016240 MONDO:0018234 False hemimelia dysostosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016240 MONDO:0019713 False hemimelia non-syndromic limb reduction defect UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016241 MONDO:0001170 False alternating hemiplegia of childhood hemiplegia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0016241 MONDO:0016210 False alternating hemiplegia of childhood alternating hemiplegia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016241 MONDO:0100500 False alternating hemiplegia of childhood Mendelian neurodevelopmental disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016244 MONDO:0002254 False atypical hemolytic-uremic syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0016242 MONDO:0002280 False hemoglobin C disease anemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0016243 MONDO:0002280 False hemoglobin E disease anemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0016244 MONDO:0003832 False atypical hemolytic-uremic syndrome complement deficiency UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0016244 MONDO:0019737 False atypical hemolytic-uremic syndrome thrombotic microangiopathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016244 MONDO:0957097 False atypical hemolytic-uremic syndrome hereditary hemolytic uremic syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016248 MONDO:0003847 False familial ovarian cancer hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016248 MONDO:0008170 False familial ovarian cancer ovarian cancer UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016249 MONDO:0016248 False hereditary site-specific ovarian cancer syndrome familial ovarian cancer UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016256 MONDO:0002254 False Hennekam syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0016256 MONDO:0015159 False Hennekam syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016256 MONDO:0019313 False Hennekam syndrome lymphatic malformation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS MONDO:0016260 MONDO:0004526 False uterine corpus rhabdomyosarcoma mixed endometrial stromal and smooth muscle tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016262 MONDO:0004526 False leiomyosarcoma of the corpus uteri mixed endometrial stromal and smooth muscle tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS @@ -27410,7 +25034,7 @@ MONDO:0016263 MONDO:0005462 False primitive neuroectodermal tumor of the corpus MONDO:0016263 MONDO:0021254 False primitive neuroectodermal tumor of the corpus uteri corpus uteri neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016264 MONDO:0000569 False autoimmune hepatitis autoimmune disorder of endocrine system UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0016264 MONDO:0000586 False autoimmune hepatitis autoimmune disorder of exocrine system UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0016264 MONDO:0002251 False autoimmune hepatitis hepatitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0016264 MONDO:0000588 False autoimmune hepatitis autoimmune disorder of gastrointestinal tract UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0016266 MONDO:0005096 False squamous cell carcinoma of the corpus uteri squamous cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016266 MONDO:0005213 False squamous cell carcinoma of the corpus uteri uterine carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016266 MONDO:0006003 False squamous cell carcinoma of the corpus uteri uterine corpus cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -27435,31 +25059,62 @@ MONDO:0016276 MONDO:0002974 False high-grade neuroendocrine carcinoma of the cer MONDO:0016277 MONDO:0002974 False malignant mixed epithelial and mesenchymal tumor of cervix uteri cervical cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016280 MONDO:0002974 False sarcoma of cervix uteri cervical cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016280 MONDO:0005089 False sarcoma of cervix uteri sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016282 MONDO:0016280 False rhabdomyosarcoma of the cervix uteri sarcoma of cervix uteri UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016283 MONDO:0016280 False leiomyosarcoma of the cervix uteri sarcoma of cervix uteri UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016284 MONDO:0016280 False primitive neuroectodermal tumor of the cervix uteri sarcoma of cervix uteri UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016285 MONDO:0005131 False papillary carcinoma of the cervix uteri cervical carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016285 MONDO:0006509 False papillary carcinoma of the cervix uteri papillary carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016287 MONDO:0002951 False adenoid basal carcinoma of the cervix uteri skin adenoid basal cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016287 MONDO:0006143 False adenoid basal carcinoma of the cervix uteri cervical squamous cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016289 MONDO:0002974 False malignant germ cell tumor of cervix uteri cervical cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016289 MONDO:0006290 False malignant germ cell tumor of cervix uteri malignant germ cell tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016290 MONDO:0015159 False Hernández-Aguirre Negrete syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016290 MONDO:0020066 False Hernández-Aguirre Negrete syndrome Ehlers-Danlos syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016291 MONDO:0015338 False craniosynostosis, Herrmann-Opitz type syndromic craniosynostosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016292 MONDO:0002254 False nodular neuronal heterotopia syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016293 MONDO:0004587 False congenital stationary night blindness hereditary night blindness UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0016294 MONDO:0002254 False Hirschsprung disease-type D brachydactyly syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016294 MONDO:0015161 False Hirschsprung disease-type D brachydactyly syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016294 MONDO:0021189 False Hirschsprung disease-type D brachydactyly syndrome intestinal motility disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016295 MONDO:0019245 False neuronal ceroid lipofuscinosis lysosomal lipid storage disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0016295 MONDO:0024237 False neuronal ceroid lipofuscinosis inherited neurodegenerative disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016296 MONDO:0002320 False holoprosencephaly congenital nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0016296 MONDO:0003847 False holoprosencephaly hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0016296 MONDO:0015159 False holoprosencephaly multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016296 MONDO:0018762 False holoprosencephaly non-acquired combined pituitary hormone deficiency UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016297 MONDO:0019497 False prelingual non-syndromic genetic hearing loss nonsyndromic genetic hearing loss UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016298 MONDO:0019497 False postlingual non-syndromic genetic hearing loss nonsyndromic genetic hearing loss UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016299 MONDO:0020022 False holoprosencephaly-caudal dysgenesis syndrome central nervous system malformation UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016302 MONDO:0019443 False isolated congenitally uncorrected transposition of the great arteries dextro-looped transposition of the great arteries UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016303 MONDO:0019443 False congenitally uncorrected transposition of the great arteries with cardiac malformation dextro-looped transposition of the great arteries UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016304 MONDO:0009319 False classic pantothenate kinase-associated neurodegeneration pantothenate kinase-associated neurodegeneration UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016305 MONDO:0009319 False atypical pantothenate kinase-associated neurodegeneration pantothenate kinase-associated neurodegeneration UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016306 MONDO:0018982 False Niemann-Pick disease type C, severe perinatal form Niemann-Pick disease type C UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016307 MONDO:0018982 False Niemann-Pick disease type C, severe early infantile neurologic onset Niemann-Pick disease type C UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016308 MONDO:0018982 False Niemann-Pick disease type C, late infantile neurologic onset Niemann-Pick disease type C UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016309 MONDO:0018982 False Niemann-Pick disease type C, juvenile neurologic onset Niemann-Pick disease type C UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016310 MONDO:0018982 False Niemann-Pick disease type C, adult neurologic onset Niemann-Pick disease type C UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016311 MONDO:0019293 False Bockenheimer syndrome skin vascular disease UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016312 MONDO:0800390 False 5-fluorouracil poisoning chemotherapy-induced toxicity UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016315 MONDO:0010674 False mucopolysaccharidosis type 2, severe form mucopolysaccharidosis type 2 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016316 MONDO:0010674 False mucopolysaccharidosis type 2, attenuated form mucopolysaccharidosis type 2 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016318 MONDO:0020067 False progressive multifocal leukoencephalopathy infectious encephalitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016319 MONDO:0002320 False congenital insensitivity to pain with hyperhidrosis congenital nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016322 MONDO:0005043 False neuroendocrine cell hyperplasia of infancy hyperplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016319 MONDO:0015364 False congenital insensitivity to pain with hyperhidrosis hereditary sensory and autonomic neuropathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016321 MONDO:0017019 False pulmonary interstitial glycogenosis interstitial lung disease specific to infancy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016322 MONDO:0017019 False neuroendocrine cell hyperplasia of infancy interstitial lung disease specific to infancy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016323 MONDO:0012580 False chronic respiratory distress with surfactant metabolism deficiency hereditary pulmonary alveolar proteinosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016332 MONDO:0016330 False hypertrophic cardiomyopathy due to intensive athletic training non-familial hypertrophic cardiomyopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016330 MONDO:0005045 False non-familial hypertrophic cardiomyopathy hypertrophic cardiomyopathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016331 MONDO:0009229 False infantile systemic hyalinosis hyaline fibromatosis syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016333 MONDO:0005021 False familial dilated cardiomyopathy dilated cardiomyopathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016333 MONDO:0005217 False familial dilated cardiomyopathy familial cardiomyopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016338 MONDO:0005021 False non-familial dilated cardiomyopathy dilated cardiomyopathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016340 MONDO:0005201 False familial restrictive cardiomyopathy restrictive cardiomyopathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016340 MONDO:0005217 False familial restrictive cardiomyopathy familial cardiomyopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016342 MONDO:0005217 False familial isolated arrhythmogenic right ventricular dysplasia familial cardiomyopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016342 MONDO:0016587 False familial isolated arrhythmogenic right ventricular dysplasia arrhythmogenic right ventricular cardiomyopathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016344 MONDO:0000819 False hydranencephaly anencephaly UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0016344 MONDO:0017103 False hydranencephaly encephaloclastic disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016345 MONDO:0005201 False non-familial restrictive cardiomyopathy restrictive cardiomyopathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016346 MONDO:0002254 False hydrocephalus-obesity-hypogonadism syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016349 MONDO:0001150 False congenital hydrocephalus hydrocephalus UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016349 MONDO:0002320 False congenital hydrocephalus congenital nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016349 MONDO:0003847 False congenital hydrocephalus hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016350 MONDO:0002254 False hydrocephalus-blue sclerae-nephropathy syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016350 MONDO:0016349 False hydrocephalus-blue sclerae-nephropathy syndrome congenital hydrocephalus UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -27467,45 +25122,86 @@ MONDO:0016351 MONDO:0005046 False anti-HLA hyperimmunization immune system disor MONDO:0016353 MONDO:0000426 False palmoplantar keratoderma-spastic paralysis syndrome autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016353 MONDO:0007853 False palmoplantar keratoderma-spastic paralysis syndrome palmoplantar keratoderma-hereditary motor and sensory neuropathy syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016354 MONDO:0002254 False xeroderma pigmentosum-Cockayne syndrome complex syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016354 MONDO:0015951 False xeroderma pigmentosum-Cockayne syndrome complex hereditary photodermatosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016357 MONDO:0019702 False dysplastic cortical hyperostosis neonatal osteosclerotic dysplasia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016358 MONDO:0005100 False limited cutaneous systemic sclerosis systemic sclerosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0016360 MONDO:0018795 False marcothrombocytopenia with mitral valve insufficiency syndromic constitutional thrombocytopenia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016362 MONDO:0021057 False attenuated familial adenomatous polyposis classic or attenuated familial adenomatous polyposis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016364 MONDO:0002254 False Joubert syndrome with ocular defect syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016364 MONDO:0015369 False Joubert syndrome with ocular defect Joubert syndrome and related disorders UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016364 MONDO:0020022 False Joubert syndrome with ocular defect central nervous system malformation UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016364 MONDO:0024458 False Joubert syndrome with ocular defect disorder of visual system UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016365 MONDO:0010837 False familial primary hyperparathyroidism primary hyperparathyroidism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016365 MONDO:0016166 False familial primary hyperparathyroidism hereditary hyperparathyroidism UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016365 MONDO:0021360 False familial primary hyperparathyroidism tumor of parathyroid gland UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016366 MONDO:0009861 False maternal phenylketonuria phenylketonuria UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016367 MONDO:0002406 False dermatomyositis dermatitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0016367 MONDO:0005554 False dermatomyositis rheumatic disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0016367 MONDO:0019127 False dermatomyositis polymyositis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0016369 MONDO:0005328 False Rothmund-Thomson syndrome type 2 eye disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016370 MONDO:0005559 False Marchiafava-Bignami disease neurodegenerative disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016371 MONDO:0016374 False combined hyperactive dysfunction syndrome of the cranial nerves cranial neuralgia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016372 MONDO:0002639 False glossopharyngeal neuralgia glossopharyngeal nerve disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0016372 MONDO:0016374 False glossopharyngeal neuralgia cranial neuralgia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016373 MONDO:0005395 False isolated facial myokymia movement disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016374 MONDO:0003569 False cranial neuralgia cranial nerve neuropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016374 MONDO:0015923 False cranial neuralgia acquired peripheral neuropathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016374 MONDO:0021667 False cranial neuralgia neuralgia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016376 MONDO:0021154 False confetti-like macular atrophy dermis disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016377 MONDO:0015159 False Pitt-Hopkins-like syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016378 MONDO:0021147 False maternal hyperthermia induced birth defects disorder of development or morphogenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016379 MONDO:0005093 False erosive pustular dermatosis of the scalp skin disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016380 MONDO:0019280 False acquired hypertrichosis lanuginosa hypertrichosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016381 MONDO:0019280 False hypertrichosis lanuginosa congenita hypertrichosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016381 MONDO:0019287 False hypertrichosis lanuginosa congenita ectodermal dysplasia syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0016382 MONDO:0019268 False hereditary poikiloderma epidermal disease UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016383 MONDO:0015962 False nephrogenic diabetes insipidus inherited renal tubular disease UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016384 MONDO:0015770 False hypogonadotropic hypogonadism-frontoparietal alopecia syndrome congenital hypogonadotropic hypogonadism UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016385 MONDO:0002254 False hypogonadism-mitral valve prolapse-intellectual disability syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016386 MONDO:0002254 False hypogonadotropic hypogonadism-retinitis pigmentosa syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016386 MONDO:0015770 False hypogonadotropic hypogonadism-retinitis pigmentosa syndrome congenital hypogonadotropic hypogonadism UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016387 MONDO:0004069 False mitochondrial oxidative phosphorylation disorder inborn mitochondrial metabolism disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016390 MONDO:0016165 False familial hypoparathyroidism hereditary hypoparathyroidism UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016390 MONDO:0019052 False familial hypoparathyroidism inborn errors of metabolism UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0016391 MONDO:0015967 False neonatal diabetes mellitus monogenic diabetes UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016392 MONDO:0005071 False cerebellar hypoplasia-tapetoretinal degeneration syndrome nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0016393 MONDO:0011323 False hyposmia-nasal and ocular hypoplasia-hypogonadotropic hypogonadism syndrome arhinia, choanal atresia, and microphthalmia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016393 MONDO:0015770 False hyposmia-nasal and ocular hypoplasia-hypogonadotropic hypogonadism syndrome congenital hypogonadotropic hypogonadism UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016394 MONDO:0015518 False sporadic infantile bilateral striatal necrosis infantile bilateral striatal necrosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016395 MONDO:0019118 False foveal hypoplasia-presenile cataract syndrome inherited retinal dystrophy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016396 MONDO:0015327 False pontocerebellar hypoplasia type 1 developmental anomaly of metabolic origin UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016396 MONDO:0016113 False pontocerebellar hypoplasia type 1 bulbospinal muscular atrophy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016396 MONDO:0019502 False pontocerebellar hypoplasia type 1 autosomal recessive non-syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0016396 MONDO:0020135 False pontocerebellar hypoplasia type 1 pontocerebellar hypoplasia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0016396 MONDO:0024257 False pontocerebellar hypoplasia type 1 hereditary motor neuron disease UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016408 MONDO:0015514 False permanent congenital hypothyroidism hereditary endocrine growth disease UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016408 MONDO:0018612 False permanent congenital hypothyroidism congenital hypothyroidism UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016410 MONDO:0016408 False central congenital hypothyroidism permanent congenital hypothyroidism UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016411 MONDO:0016410 False hypothyroidism due to deficient transcription factors involved in pituitary development or function central congenital hypothyroidism UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016413 MONDO:0016555 False congenital hypothyroidism due to maternal intake of antithyroid drugs transient congenital hypothyroidism due to maternal factor UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016414 MONDO:0002254 False hypotrichosis-intellectual disability, Lopes type syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016416 MONDO:0003150 False diphallia male reproductive system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016416 MONDO:0021147 False diphallia disorder of development or morphogenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016417 MONDO:0002254 False congenital ichthyosis-microcephalus-tetraplegia syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016418 MONDO:0007803 False multiple system atrophy, cerebellar type multiple system atrophy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016419 MONDO:0003847 False hereditary breast carcinoma hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016420 MONDO:0020242 False familial flecked retinopathy hereditary macular dystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016421 MONDO:0029000 False toxic oil syndrome poisoning UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016422 MONDO:0017278 False autoimmune polyendocrinopathy type 3 autoimmune polyendocrinopathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016423 MONDO:0017278 False autoimmune polyendocrinopathy type 4 autoimmune polyendocrinopathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016424 MONDO:0005045 False progressive sensorineural hearing loss-hypertrophic cardiomyopathy syndrome hypertrophic cardiomyopathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016425 MONDO:0002254 False Hughes-Stovin syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016426 MONDO:0002312 False fusariosis opportunistic mycosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0016429 MONDO:0005301 False Marburg acute multiple sclerosis multiple sclerosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016429 MONDO:0020683 False Marburg acute multiple sclerosis acute disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016430 MONDO:0002562 False Balo concentric sclerosis demyelinating disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0016431 MONDO:0011674 False autosomal dominant Charcot-Marie-Tooth disease type 2M Charcot-Marie-Tooth disease dominant intermediate B UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016431 MONDO:0018993 False autosomal dominant Charcot-Marie-Tooth disease type 2M Charcot-Marie-Tooth disease type 2 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016432 MONDO:0002254 False heart-hand syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016432 MONDO:0003847 False heart-hand syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016432 MONDO:0018234 False heart-hand syndrome dysostosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016432 MONDO:0019054 False heart-hand syndrome congenital limb malformation UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016433 MONDO:0015159 False dysmorphism-short stature-deafness-disorder of sex development syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016433 MONDO:0020040 False dysmorphism-short stature-deafness-disorder of sex development syndrome 46,XY disorder of sex development UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016437 MONDO:0021154 False late-onset focal dermal elastosis dermis disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016438 MONDO:0021154 False linear focal dermal elastosis dermis disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016439 MONDO:0021154 False elastoderma dermis disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -27518,40 +25214,80 @@ MONDO:0016446 MONDO:0016175 False acquired cutis laxa cutis laxa UNSUPPORTED-MIS MONDO:0016447 MONDO:0021154 False white fibrous papulosis of the neck dermis disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016448 MONDO:0005093 False pseudoxanthoma elasticum-like papillary dermal elastolysis skin disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016449 MONDO:0021154 False mid-dermal elastolysis dermis disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016450 MONDO:0020108 False autoimmune hemolytic anemia, cold type autoimmune hemolytic anemia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016451 MONDO:0018044 False idiopathic hypersomnia with long sleep time idiopathic hypersomnia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016452 MONDO:0018044 False idiopathic hypersomnia without long sleep time idiopathic hypersomnia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016454 MONDO:0018993 False Charcot-Marie-Tooth disease type 2B5 Charcot-Marie-Tooth disease type 2 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016455 MONDO:0005108 False virus-associated trichodysplasia spinulosa viral infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016455 MONDO:0024294 False virus-associated trichodysplasia spinulosa skin disorder caused by infection UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016456 MONDO:0015159 False 5q14.3 microdeletion syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016456 MONDO:0016904 False 5q14.3 microdeletion syndrome partial deletion of the long arm of chromosome 5 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016457 MONDO:0002254 False ptosis-upper ocular movement limitation-absence of lacrimal punctum syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016458 MONDO:0016959 False 8q12 microduplication syndrome partial duplication of the long arm of chromosome 8 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016459 MONDO:0016901 False 2q23.1 microdeletion syndrome partial deletion of the long arm of chromosome 2 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016460 MONDO:0005267 False polyvalvular heart disease syndrome heart disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016460 MONDO:0015160 False polyvalvular heart disease syndrome multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016463 MONDO:0002254 False syndromic agammaglobulinemia syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016461 MONDO:0016956 False 5q35 microduplication syndrome partial trisomy of the long arm of chromosome 5 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016462 MONDO:0015977 False isolated agammaglobulinemia agammaglobulinemia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016463 MONDO:0015977 False syndromic agammaglobulinemia agammaglobulinemia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016464 MONDO:0001933 False insulin-resistance syndrome type B endocrine pancreas disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016467 MONDO:0002254 False isotretinoin syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016467 MONDO:0009473 False isotretinoin syndrome isotretinoin-like syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016467 MONDO:0016677 False isotretinoin syndrome toxic or drug-related embryofetopathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016468 MONDO:0005498 False toxin-mediated infectious botulism botulism UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016469 MONDO:0005385 False Ehlers-Danlos syndrome, vascular-like type vascular disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016469 MONDO:0020066 False Ehlers-Danlos syndrome, vascular-like type Ehlers-Danlos syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016470 MONDO:0020066 False Ehlers-Danlos/osteogenesis imperfecta syndrome Ehlers-Danlos syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0016471 MONDO:0017672 False pachyonychia congenita focal palmoplantar keratoderma UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016472 MONDO:0005943 False dracunculiasis Rhabditida infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016472 MONDO:0016075 False dracunculiasis filariasis UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0016473 MONDO:0002728 False familial rhabdoid tumor rhabdoid tumor UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016475 MONDO:0007534 False Beckwith-Wiedemann syndrome due to imprinting defect of 11p15 Beckwith-Wiedemann syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016476 MONDO:0007534 False Beckwith-Wiedemann syndrome due to CDKN1C mutation Beckwith-Wiedemann syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016477 MONDO:0007534 False Beckwith-Wiedemann syndrome due to 11p15 microdeletion Beckwith-Wiedemann syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016477 MONDO:0016893 False Beckwith-Wiedemann syndrome due to 11p15 microdeletion partial deletion of the short arm of chromosome 11 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016478 MONDO:0007534 False Beckwith-Wiedemann syndrome due to 11p15 translocation/inversion Beckwith-Wiedemann syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016479 MONDO:0008394 False silver-Russell syndrome due to 7p11.2p13 microduplication Silver-Russell syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016479 MONDO:0016944 False silver-Russell syndrome due to 7p11.2p13 microduplication partial duplication of the short arm of chromosome 7 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016480 MONDO:0008394 False silver-Russell syndrome due to an imprinting defect of 11p15 Silver-Russell syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016481 MONDO:0008394 False silver-Russell syndrome due to 11p15 microduplication Silver-Russell syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016481 MONDO:0016948 False silver-Russell syndrome due to 11p15 microduplication partial duplication of the short arm of chromosome 11 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016482 MONDO:0008394 False silver-Russell syndrome due to maternal uniparental disomy of chromosome 11 Silver-Russell syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016482 MONDO:0700018 False silver-Russell syndrome due to maternal uniparental disomy of chromosome 11 chromosome 11 disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016482 MONDO:0700086 False silver-Russell syndrome due to maternal uniparental disomy of chromosome 11 uniparental disomy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016483 MONDO:0003847 False intracranial berry aneurysm hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0016483 MONDO:0005291 False intracranial berry aneurysm brain aneurysm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0016486 MONDO:0013517 False beta-thalassemia major beta-thalassemia HBB/LCRB UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016487 MONDO:0013517 False beta-thalassemia intermedia beta-thalassemia HBB/LCRB UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016489 MONDO:0017145 False delta-beta-thalassemia beta-thalassemia and related diseases UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016490 MONDO:0017145 False hemoglobin C-beta-thalassemia syndrome beta-thalassemia and related diseases UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016491 MONDO:0017145 False hemoglobin E-beta-thalassemia syndrome beta-thalassemia and related diseases UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016496 MONDO:0016218 False pharyngeal-cervical-brachial variant of Guillain-Barre syndrome Guillain-Barre syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016497 MONDO:0016218 False paraparetic variant of Guillain-Barre syndrome Guillain-Barre syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016498 MONDO:0016218 False acute pure sensory neuropathy Guillain-Barre syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016498 MONDO:0020683 False acute pure sensory neuropathy acute disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016499 MONDO:0016218 False acute pandysautonomia Guillain-Barre syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016499 MONDO:0020683 False acute pandysautonomia acute disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016500 MONDO:0016218 False acute sensory ataxic neuropathy Guillain-Barre syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016500 MONDO:0020683 False acute sensory ataxic neuropathy acute disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016501 MONDO:0017014 False Hermansky-Pudlak syndrome with pulmonary fibrosis interstitial lung disease specific to childhood UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016501 MONDO:0019312 False Hermansky-Pudlak syndrome with pulmonary fibrosis Hermansky-Pudlak syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016502 MONDO:0019312 False Hermansky-Pudlak syndrome without pulmonary fibrosis Hermansky-Pudlak syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016503 MONDO:0019268 False congenital erosive and vesicular dermatosis epidermal disease UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016504 MONDO:0001422 False primary unilateral adrenal hyperplasia primary aldosteronism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016505 MONDO:0001422 False aldosterone-producing adrenal cortex adenoma primary aldosteronism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016506 MONDO:0001422 False ectopic aldosterone-producing tumor primary aldosteronism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016509 MONDO:0002254 False microcornea-posterior megalolenticonus-persistent fetal vasculature-coloboma syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016510 MONDO:0021147 False epibulbar lipodermoid-preauricular appendage-polythelia syndrome disorder of development or morphogenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016511 MONDO:0005550 False infectious embryofetopathy infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016511 MONDO:0019755 False infectious embryofetopathy developmental defect during embryogenesis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016512 MONDO:0003847 False Kabuki syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0016512 MONDO:0015159 False Kabuki syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016514 MONDO:0017610 False epidermolysis bullosa simplex with anodontia/hypodontia epidermolysis bullosa simplex UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016515 MONDO:0015160 False Kallmann syndrome-heart disease syndrome multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016515 MONDO:0015770 False Kallmann syndrome-heart disease syndrome congenital hypogonadotropic hypogonadism UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016516 MONDO:0800063 False Kenny-Caffey syndrome primordial dwarfism and slender bone disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016521 MONDO:0002254 False muscular pseudohypertrophy-hypothyroidism syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016521 MONDO:0005151 False muscular pseudohypertrophy-hypothyroidism syndrome endocrine system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016522 MONDO:0002254 False Kousseff syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016523 MONDO:0005087 False bronchogenic cyst respiratory system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016523 MONDO:0021147 False bronchogenic cyst disorder of development or morphogenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -27559,62 +25295,113 @@ MONDO:0016525 MONDO:0001422 False familial hyperaldosteronism primary aldosteron MONDO:0016525 MONDO:0003009 False familial hyperaldosteronism hyperaldosteronism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016525 MONDO:0003847 False familial hyperaldosteronism hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016526 MONDO:0700043 False trisomy 9p syndrome caused by partial chromosomal duplication of the short arm of chromosome 9 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016527 MONDO:0002412 False glycogen storage disease due to lactate dehydrogenase deficiency disorder of glycogen metabolism UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016528 MONDO:0002254 False limb body wall complex syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016529 MONDO:0005240 False duplication of urethra kidney disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016529 MONDO:0021147 False duplication of urethra disorder of development or morphogenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016530 MONDO:0004382 False laryngocele laryngeal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016531 MONDO:0004335 False digestive duplication digestive system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016532 MONDO:0002254 False Lennox-Gastaut syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0016532 MONDO:0000414 False Lennox-Gastaut syndrome childhood electroclinical syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0016532 MONDO:0020072 False Lennox-Gastaut syndrome childhood-onset epilepsy syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016532 MONDO:0100062 False Lennox-Gastaut syndrome developmental and epileptic encephalopathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS +MONDO:0016533 MONDO:0007099 False apolipoprotein A-II amyloidosis familial visceral amyloidosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016534 MONDO:0019835 False infundibulo-neurohypophysitis primary hypophysitis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016535 MONDO:0021147 False hypohidrotic ectodermal dysplasia disorder of development or morphogenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016537 MONDO:0003778 False lymphoproliferative syndrome inborn error of immunity UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0016539 MONDO:0011669 False atypical hypotonia-cystinuria syndrome hypotonia-cystinuria syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016540 MONDO:0009332 False congenital secondary polycythemia congenital hematological disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016540 MONDO:0020115 False congenital secondary polycythemia secondary polycythemia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016541 MONDO:0002438 False acquired secondary polycythemia acquired polycythemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016541 MONDO:0020115 False acquired secondary polycythemia secondary polycythemia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016542 MONDO:0003778 False immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections syndrome inborn error of immunity UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016542 MONDO:0005265 False immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections syndrome inflammatory bowel disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016542 MONDO:0005554 False immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections syndrome rheumatic disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016542 MONDO:0023603 False immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections syndrome hereditary disorder of connective tissue UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016543 MONDO:0006025 False hyperphenylalaninemia due to tetrahydrobiopterin deficiency autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016543 MONDO:0019189 False hyperphenylalaninemia due to tetrahydrobiopterin deficiency inborn disorder of amino acid and other organic acid metabolism UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016543 MONDO:0037871 False hyperphenylalaninemia due to tetrahydrobiopterin deficiency amino acid metabolism disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016544 MONDO:0017287 False IgG4-related mesenteritis IgG4-related disease UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016545 MONDO:0006025 False leukoencephalopathy-palmoplantar keratoderma syndrome autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016546 MONDO:0005395 False primary orthostatic tremor movement disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016547 MONDO:0007534 False Beckwith-Wiedemann syndrome due to NSD1 mutation Beckwith-Wiedemann syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016548 MONDO:0002118 False megacystis-megaureter syndrome urinary system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016549 MONDO:0018960 False primary megaureter, adult-onset form congenital primary megaureter UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016550 MONDO:0018960 False congenital primary megaureter, obstructed form congenital primary megaureter UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016551 MONDO:0018960 False congenital primary megaureter, refluxing form congenital primary megaureter UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016552 MONDO:0018960 False congenital primary megaureter, nonrefluxing and unobstructed form congenital primary megaureter UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016553 MONDO:0015770 False isolated congenital hypogonadotropic hypogonadism congenital hypogonadotropic hypogonadism UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016554 MONDO:0005151 False neonatal iodine exposure endocrine system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016555 MONDO:0015792 False transient congenital hypothyroidism due to maternal factor transient congenital hypothyroidism UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016556 MONDO:0015792 False transient congenital hypothyroidism due to neonatal factor transient congenital hypothyroidism UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016557 MONDO:0019284 False leukonychia totalis inherited isolated nail anomaly UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016558 MONDO:0002320 False familial congenital mirror movements congenital nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0016558 MONDO:0003847 False familial congenital mirror movements hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0016558 MONDO:0005395 False familial congenital mirror movements movement disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0016559 MONDO:0009633 False glaucoma secondary to spherophakia/ectopia lentis and megalocornea microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016559 MONDO:0018174 False glaucoma secondary to spherophakia/ectopia lentis and megalocornea hereditary glaucoma UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016560 MONDO:0015159 False ptosis-syndactyly-learning difficulties syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016561 MONDO:0022756 False 1q44 microdeletion syndrome chromosome 1q deletion UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016562 MONDO:0020488 False progressive supranuclear palsy-pure akinesia with gait freezing syndrome atypical progressive supranuclear palsy syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016563 MONDO:0020488 False progressive supranuclear palsy-corticobasal syndrome atypical progressive supranuclear palsy syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016564 MONDO:0020488 False progressive supranuclear palsy-progressive non-fluent aphasia syndrome atypical progressive supranuclear palsy syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016567 MONDO:0005071 False locked-in syndrome nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0016568 MONDO:0002254 False Lowe-Kohn-Cohen syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016568 MONDO:0021147 False Lowe-Kohn-Cohen syndrome disorder of development or morphogenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016570 MONDO:0017207 False primary pulmonary lymphoma primary organ-specific lymphoma UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016571 MONDO:0002320 False macrocephaly-short stature-paraplegia syndrome congenital nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016571 MONDO:0015159 False macrocephaly-short stature-paraplegia syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016571 MONDO:0020022 False macrocephaly-short stature-paraplegia syndrome central nervous system malformation UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016572 MONDO:0017094 False central bilateral macrogyria cerebral cortical dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016573 MONDO:0020683 False acute fatty liver of pregnancy acute disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016573 MONDO:0024575 False acute fatty liver of pregnancy pregnancy disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016574 MONDO:0019288 False hypo- and hypermelanotic cutaneous macules-retarded growth-intellectual disability syndrome skin pigmentation disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016575 MONDO:0005087 False primary ciliary dyskinesia respiratory system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0016575 MONDO:0005308 False primary ciliary dyskinesia ciliopathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0016576 MONDO:0003847 False split hand-foot malformation hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0016576 MONDO:0018234 False split hand-foot malformation dysostosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0016577 MONDO:0021147 False biliary atresia with splenic malformation syndrome disorder of development or morphogenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016580 MONDO:0005087 False congenital pulmonary airway malformation respiratory system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016580 MONDO:0021147 False congenital pulmonary airway malformation disorder of development or morphogenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016581 MONDO:0019512 False conotruncal heart malformations congenital heart malformation UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016582 MONDO:0019512 False congenital mitral malformation congenital heart malformation UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016584 MONDO:0015161 False mandibuloacral dysplasia multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016584 MONDO:0015327 False mandibuloacral dysplasia developmental anomaly of metabolic origin UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016584 MONDO:0019707 False mandibuloacral dysplasia primary osteolysis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016584 MONDO:0020087 False mandibuloacral dysplasia hereditary lipodystrophy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016587 MONDO:0000591 False arrhythmogenic right ventricular cardiomyopathy intrinsic cardiomyopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0016588 MONDO:0029000 False infantile mercury poisoning poisoning UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016591 MONDO:0016593 False sporadic adult-onset ataxia of unknown etiology acquired ataxia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016593 MONDO:0100308 False acquired ataxia atactic disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016594 MONDO:0005559 False superficial siderosis neurodegenerative disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016595 MONDO:0005119 False inhalational anthrax anthrax infection UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0016596 MONDO:0015327 False hyperphosphatasia-intellectual disability syndrome developmental anomaly of metabolic origin UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016596 MONDO:0015905 False hyperphosphatasia-intellectual disability syndrome syndromic dyslipidemia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016596 MONDO:0017748 False hyperphosphatasia-intellectual disability syndrome inborn disorder of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016596 MONDO:0019054 False hyperphosphatasia-intellectual disability syndrome congenital limb malformation UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016598 MONDO:0016540 False autosomal recessive secondary polycythemia not associated with VHL gene congenital secondary polycythemia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016600 MONDO:0008988 False acute neonatal citrullinemia type I citrullinemia type I UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016600 MONDO:0020683 False acute neonatal citrullinemia type I acute disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016601 MONDO:0008988 False adult-onset citrullinemia type I citrullinemia type I UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016602 MONDO:0015991 False citrin deficiency citrullinemia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016602 MONDO:0800153 False citrin deficiency urea cycle disorder or inherited hyperammonemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016603 MONDO:0016602 False citrullinemia type II citrin deficiency UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016604 MONDO:0003847 False dysraphism-cleft lip/palate-limb reduction defects syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016605 MONDO:0018570 False perinatal lethal hypophosphatasia hypophosphatasia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016608 MONDO:0005560 False megalencephaly brain disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016608 MONDO:0021147 False megalencephaly disorder of development or morphogenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016609 MONDO:0020122 False inflammatory myopathy with abundant macrophages acquired idiopathic inflammatory myopathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016610 MONDO:0020122 False idiopathic eosinophilic myositis acquired idiopathic inflammatory myopathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016611 MONDO:0044335 False lipoblastoma benign soft tissue neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016612 MONDO:0000425 False X-linked cerebellar ataxia X-linked disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0016612 MONDO:0100310 False X-linked cerebellar ataxia hereditary cerebellar ataxia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016613 MONDO:0021056 False APC-related attenuated familial adenomatous polyposis familial adenomatous polyposis 1 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016615 MONDO:0019433 False oligoarticular juvenile idiopathic arthritis with anti-nuclear antibodies oligoarticular juvenile idiopathic arthritis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016616 MONDO:0019433 False oligoarticular juvenile idiopathic arthritis without anti-nuclear antibodies oligoarticular juvenile idiopathic arthritis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016614 MONDO:0020044 False autosomal recessive ataxia due to PEX10 deficiency autosomal recessive metabolic cerebellar ataxia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016619 MONDO:0006025 False autosomal recessive hypohidrotic ectodermal dysplasia autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016619 MONDO:0016535 False autosomal recessive hypohidrotic ectodermal dysplasia hypohidrotic ectodermal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016620 MONDO:0002254 False primary hypertrophic osteoarthropathy syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0016620 MONDO:0003847 False primary hypertrophic osteoarthropathy hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0016621 MONDO:0007739 False juvenile Huntington disease Huntington disease UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016622 MONDO:0002254 False Melhem-Fahl syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016622 MONDO:0003847 False Melhem-Fahl syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016622 MONDO:0018234 False Melhem-Fahl syndrome dysostosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016624 MONDO:0001639 False inherited deficiency anemia deficiency anemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016624 MONDO:0003847 False inherited deficiency anemia hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016625 MONDO:0001639 False acquired deficiency anemia deficiency anemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -27622,86 +25409,181 @@ MONDO:0016630 MONDO:0100241 False isolated delta-storage pool disease inherited MONDO:0016638 MONDO:0008737 False familial hypodysfibrinogenemia congenital afibrinogenemia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016639 MONDO:0002254 False lower limb deficiency-hypospadias syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016641 MONDO:0003847 False limb transversal defect-cardiac anomaly syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016641 MONDO:0018234 False limb transversal defect-cardiac anomaly syndrome dysostosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016641 MONDO:0019054 False limb transversal defect-cardiac anomaly syndrome congenital limb malformation UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016643 MONDO:0003847 False frontonasal dysplasia hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0016643 MONDO:0018234 False frontonasal dysplasia dysostosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0016644 MONDO:0019806 False logopenic progressive aphasia primary progressive aphasia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016646 MONDO:0016387 False autosomal dominant optic atrophy and peripheral neuropathy mitochondrial oxidative phosphorylation disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016646 MONDO:0020250 False autosomal dominant optic atrophy and peripheral neuropathy autosomal dominant optic atrophy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016648 MONDO:0005516 False multiple epiphyseal dysplasia osteochondrodysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0016648 MONDO:0018230 False multiple epiphyseal dysplasia skeletal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016649 MONDO:0006025 False Warburg micro syndrome autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0016649 MONDO:0015159 False Warburg micro syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016649 MONDO:0016073 False Warburg micro syndrome syndromic microphthalmia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS +MONDO:0016649 MONDO:0018838 False Warburg micro syndrome lissencephaly spectrum disorders UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS MONDO:0016650 MONDO:0700008 False paternal uniparental disomy of chromosome 1 chromosome 1 disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016650 MONDO:0700086 False paternal uniparental disomy of chromosome 1 uniparental disomy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016651 MONDO:0700008 False maternal uniparental disomy of chromosome 1 chromosome 1 disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016651 MONDO:0700086 False maternal uniparental disomy of chromosome 1 uniparental disomy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016652 MONDO:0016901 False 2q31.1 microdeletion syndrome partial deletion of the long arm of chromosome 2 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016653 MONDO:0016901 False 2q33.1 microdeletion syndrome partial deletion of the long arm of chromosome 2 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016654 MONDO:0700012 False ring chromosome 5 chromosome 5 disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016654 MONDO:0700091 False ring chromosome 5 ring chromosome disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016655 MONDO:0016888 False 6p22 microdeletion syndrome partial deletion of the short arm of chromosome 6 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016656 MONDO:0016906 False 7q31 microdeletion syndrome partial deletion of the long arm of chromosome 7 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016657 MONDO:0016890 False 8p11.2 deletion syndrome partial deletion of the short arm of chromosome 8 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016658 MONDO:0002254 False 8p23.1 microdeletion syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016658 MONDO:0016890 False 8p23.1 microdeletion syndrome partial deletion of the short arm of chromosome 8 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016659 MONDO:0016945 False 8p23.1 duplication syndrome partial duplication of the short arm of chromosome 8 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016660 MONDO:0006025 False autosomal recessive primary microcephaly autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0016660 MONDO:0016056 False autosomal recessive primary microcephaly isolated congenital microcephaly UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0016660 MONDO:0100500 False autosomal recessive primary microcephaly Mendelian neurodevelopmental disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016661 MONDO:0019751 False infantile onset panniculitis with uveitis and systemic granulomatosis autoinflammatory syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016662 MONDO:0019751 False idiopathic recurrent pericarditis autoinflammatory syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016662 MONDO:0700007 False idiopathic recurrent pericarditis idiopathic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016663 MONDO:0003900 False overlapping connective tissue disease connective tissue disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016663 MONDO:0007179 False overlapping connective tissue disease autoimmune disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016664 MONDO:0018640 False drug-induced vasculitis secondary vasculitis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016666 MONDO:0005554 False unexplained long-lasting fever/inflammatory syndrome rheumatic disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016668 MONDO:0002254 False sickle cell-beta-thalassemia disease syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016669 MONDO:0002254 False sickle cell-hemoglobin c disease syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016669 MONDO:0011382 False sickle cell-hemoglobin c disease syndrome sickle cell anemia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016670 MONDO:0002254 False sickle cell-hemoglobin d disease syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016670 MONDO:0019050 False sickle cell-hemoglobin d disease syndrome inherited hemoglobinopathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016671 MONDO:0002254 False sickle cell-hemoglobin E disease syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016671 MONDO:0019050 False sickle cell-hemoglobin E disease syndrome inherited hemoglobinopathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016672 MONDO:0002254 False hereditary persistence of fetal hemoglobin-sickle cell disease syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016672 MONDO:0019050 False hereditary persistence of fetal hemoglobin-sickle cell disease syndrome inherited hemoglobinopathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016673 MONDO:0009180 False localized junctional epidermolysis bullosa, non-Herlitz type junctional epidermolysis bullosa, non-Herlitz type UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016674 MONDO:0020040 False 46,XY partial gonadal dysgenesis 46,XY disorder of sex development UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016676 MONDO:0008691 False recurrent infections-inflammatory syndrome due to zinc metabolism disorder syndrome zinc, elevated plasma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016676 MONDO:0017764 False recurrent infections-inflammatory syndrome due to zinc metabolism disorder syndrome disorder of zinc metabolism UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016677 MONDO:0019755 False toxic or drug-related embryofetopathy developmental defect during embryogenesis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016681 MONDO:0002501 False gliosarcoma brain glioblastoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0016682 MONDO:0002501 False giant cell glioblastoma brain glioblastoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0016683 MONDO:0005499 False gliomatosis cerebri brain glioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0016683 MONDO:0016680 False gliomatosis cerebri high grade astrocytic tumor UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016685 MONDO:0019781 False low-grade astrocytoma astrocytoma (excluding glioblastoma) UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016685 MONDO:0021638 False low-grade astrocytoma low grade astrocytic tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016686 MONDO:0016685 False diffuse astrocytoma low-grade astrocytoma UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016690 MONDO:0016685 False pleomorphic xanthoastrocytoma low-grade astrocytoma UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016691 MONDO:0016685 False pilocytic astrocytoma low-grade astrocytoma UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016692 MONDO:0016691 False pilomyxoid astrocytoma pilocytic astrocytoma UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0016693 MONDO:0007667 False subependymal giant cell astrocytoma subependymoma UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0016693 MONDO:0016685 False subependymal giant cell astrocytoma low-grade astrocytoma UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016697 MONDO:0016698 False low grade ependymoma ependymoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016703 MONDO:0016702 False anaplastic oligoastrocytoma oligoastrocytoma UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016706 MONDO:0002786 False chordoid glioma of the third ventricle diencephalic cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0016706 MONDO:0005499 False chordoid glioma of the third ventricle brain glioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0016706 MONDO:0021639 False chordoid glioma of the third ventricle grade II glioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016715 MONDO:0000640 False ependymoblastoma central nervous system primitive neuroectodermal neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0016715 MONDO:0016713 False ependymoblastoma central nervous system Ewing sarcoma/peripheral primitive neuroectodermal tumor UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016719 MONDO:0015159 False microcephaly-seizures-intellectual disability-heart disease syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016723 MONDO:0000627 False pineocytoma benign endocrine neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0016731 MONDO:0016729 False desmoplastic infantile astrocytoma/ganglioglioma mixed neuronal-glial tumor UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016734 MONDO:0016733 False anaplastic ganglioglioma ganglioglioma UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016742 MONDO:0000524 False mixed germ cell tumor of central nervous system mixed extragonadal germ cell cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016745 MONDO:0016743 False diffuse leptomeningeal melanocytosis tumor of meninges UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016748 MONDO:0000648 False hemangioblastoma nervous system benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0016748 MONDO:0002407 False hemangioblastoma capillary hemangioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0016748 MONDO:0043218 False hemangioblastoma neurovascular disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016749 MONDO:0021248 False tumor of cranial and spinal nerves nervous system neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016750 MONDO:0015159 False microcephaly-cleft palate syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016751 MONDO:0019404 False malignant perineurioma perineurioma UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016751 MONDO:0100342 False malignant perineurioma malignant glioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016752 MONDO:0016749 False benign peripheral nerve sheath tumor tumor of cranial and spinal nerves UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016755 MONDO:0016752 False neurofibroma benign peripheral nerve sheath tumor UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016758 MONDO:0002254 False microcephaly-brain defect-spasticity-hypernatremia syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016759 MONDO:0016113 False pontocerebellar hypoplasia type 2 bulbospinal muscular atrophy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016759 MONDO:0020135 False pontocerebellar hypoplasia type 2 pontocerebellar hypoplasia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0016759 MONDO:0024257 False pontocerebellar hypoplasia type 2 hereditary motor neuron disease UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016760 MONDO:0002254 False microcephaly-microcornea syndrome, Seemanova type syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016760 MONDO:0015159 False microcephaly-microcornea syndrome, Seemanova type multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016760 MONDO:0024458 False microcephaly-microcornea syndrome, Seemanova type disorder of visual system UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016761 MONDO:0005516 False spondyloepiphyseal dysplasia osteochondrodysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0016761 MONDO:0018230 False spondyloepiphyseal dysplasia skeletal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016762 MONDO:0005328 False microcornea-corectopia-macular hypoplasia syndrome eye disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016763 MONDO:0018230 False spondylometaphyseal dysplasia skeletal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016764 MONDO:0005328 False isolated anophthalmia-microphthalmia syndrome eye disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016765 MONDO:0016897 False 19p13.12 microdeletion syndrome partial deletion of the short arm of chromosome 19 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016769 MONDO:0006572 False linear lichen planus lichen planus UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016770 MONDO:0006572 False actinic lichen planus lichen planus UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016771 MONDO:0006572 False annular atrophic lichen planus lichen planus UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016772 MONDO:0006572 False annular lichen planus lichen planus UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016773 MONDO:0006572 False atrophic lichen planus lichen planus UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016774 MONDO:0006572 False lichen planus pigmentosus lichen planus UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016775 MONDO:0006572 False lichen planus pemphigoides lichen planus UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016776 MONDO:0004907 False frontal fibrosing alopecia alopecia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016777 MONDO:0005498 False inhalational botulism botulism UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016778 MONDO:0043544 False iatrogenic botulism nosocomial infection UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016779 MONDO:0015159 False multiple congenital anomalies due to 14q32.2 maternally expressed gene defect multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016779 MONDO:0100499 False multiple congenital anomalies due to 14q32.2 maternally expressed gene defect multiple congenital anomalies due to 14q32.2 imprinting defect UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016780 MONDO:0014541 False paternal 14q32.2 microdeletion syndrome motor developmental delay due to 14q32.2 paternally expressed gene defect UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016780 MONDO:0016912 False paternal 14q32.2 microdeletion syndrome partial deletion of the long arm of chromosome 14 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016781 MONDO:0016779 False maternal 14q32.2 microdeletion syndrome multiple congenital anomalies due to 14q32.2 maternally expressed gene defect UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016782 MONDO:0014541 False paternal 14q32.2 hypomethylation syndrome motor developmental delay due to 14q32.2 paternally expressed gene defect UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016783 MONDO:0016779 False maternal 14q32.2 hypermethylation syndrome multiple congenital anomalies due to 14q32.2 maternally expressed gene defect UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016789 MONDO:0019189 False pyruvate metabolism disorder inborn disorder of amino acid and other organic acid metabolism UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016789 MONDO:0019243 False pyruvate metabolism disorder inborn disorder of energy metabolism UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016789 MONDO:0045022 False pyruvate metabolism disorder disorder of organic acid metabolism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016790 MONDO:0019243 False tricarboxylic acid cycle disorder inborn disorder of energy metabolism UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016796 MONDO:0018158 False mitochondrial DNA depletion syndrome, encephalomyopathic form mitochondrial DNA depletion syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016798 MONDO:0016387 False ataxia neuropathy spectrum mitochondrial oxidative phosphorylation disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016800 MONDO:0004069 False mitochondrial membrane transport disorder inborn mitochondrial metabolism disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016801 MONDO:0016800 False mitochondrial substrate carrier disorder mitochondrial membrane transport disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016802 MONDO:0016800 False mitochondrial protein import disorder mitochondrial membrane transport disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016806 MONDO:0016387 False maternally-inherited mitochondrial dystonia mitochondrial oxidative phosphorylation disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016807 MONDO:0044970 False pure mitochondrial myopathy mitochondrial disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016809 MONDO:0011835 False spinocerebellar ataxia with epilepsy sensory ataxic neuropathy, dysarthria, and ophthalmoparesis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016810 MONDO:0005181 False autosomal recessive progressive external ophthalmoplegia progressive external ophthalmoplegia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016810 MONDO:0006025 False autosomal recessive progressive external ophthalmoplegia autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016811 MONDO:0007415 False renal tubulopathy-encephalopathy-liver failure syndrome mitochondrial complex III deficiency nuclear type 1 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016812 MONDO:0005066 False dopa-responsive dystonia metabolic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016814 MONDO:0009723 False maternally-inherited Leigh syndrome Leigh syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016817 MONDO:0002254 False Meier-Gorlin syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0016817 MONDO:0006025 False Meier-Gorlin syndrome autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0016817 MONDO:0015160 False Meier-Gorlin syndrome multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016818 MONDO:0002254 False Mikati-Najjar-Sahli syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016819 MONDO:0015770 False Moebius syndrome-axonal neuropathy-hypogonadotropic hypogonadism syndrome congenital hypogonadotropic hypogonadism UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016820 MONDO:0003847 False Moyamoya disease hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0016820 MONDO:0006693 False Moyamoya disease cerebral arterial disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0016821 MONDO:0002254 False shoulder and girdle defects-familial intellectual disability syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016822 MONDO:0005554 False myalgia-eosinophilia syndrome associated with tryptophan rheumatic disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016823 MONDO:0019296 False mycetoma subcutaneous tissue disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016824 MONDO:0023603 False infantile myofibromatosis hereditary disorder of connective tissue UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016824 MONDO:0044335 False infantile myofibromatosis benign soft tissue neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016825 MONDO:0009637 False mitochondrial myopathy-lactic acidosis-deafness syndrome inborn mitochondrial myopathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016826 MONDO:0002012 False methylmalonic aciduria and homocystinuria methylmalonic acidemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016826 MONDO:0004737 False methylmalonic aciduria and homocystinuria homocystinuria UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016826 MONDO:0016624 False methylmalonic aciduria and homocystinuria inherited deficiency anemia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016826 MONDO:0019215 False methylmalonic aciduria and homocystinuria classic organic aciduria UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016826 MONDO:0019220 False methylmalonic aciduria and homocystinuria inborn disorder of cobalamin metabolism and transport UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016827 MONDO:0002254 False myopathy-growth delay-intellectual disability-hypospadias syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016828 MONDO:0006025 False autosomal recessive sideroblastic anemia autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016828 MONDO:0020099 False autosomal recessive sideroblastic anemia inherited sideroblastic anemia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016829 MONDO:0020754 False familial visceral myopathy visceral myopathy 1 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016829 MONDO:0021189 False familial visceral myopathy intestinal motility disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016830 MONDO:0016106 False Emery-Dreifuss muscular dystrophy progressive muscular dystrophy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016830 MONDO:0016333 False Emery-Dreifuss muscular dystrophy familial dilated cardiomyopathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0016831 MONDO:0005073 False linear verrucous nevus syndrome melanocytic nevus UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016832 MONDO:0012342 False distal 7q11.23 microduplication syndrome 7q11.23 microduplication syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016833 MONDO:0016912 False 14q12 microdeletion syndrome partial deletion of the long arm of chromosome 14 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016834 MONDO:0016949 False 16p11.2p12.2 microduplication syndrome partial duplication of the short arm of chromosome 16 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016835 MONDO:0016964 False 14q11.2 microduplication syndrome partial duplication of the long arm of chromosome 14 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016836 MONDO:0016894 False 16p13.11 microdeletion syndrome partial deletion of the short arm of chromosome 16 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016837 MONDO:0016949 False 16p13.11 microduplication syndrome partial duplication of the short arm of chromosome 16 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016838 MONDO:0016914 False 16q24.3 microdeletion syndrome partial deletion of the long arm of chromosome 16 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016839 MONDO:0022754 False distal 17p13.3 microdeletion syndrome chromosome 17p deletion UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016840 MONDO:0016950 False trisomy 17p partial duplication of the short arm of chromosome 17 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016841 MONDO:0016898 False 20p12.3 microdeletion syndrome partial monosomy of the short arm of chromosome 20 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016842 MONDO:0016918 False paternal 20q13.2q13.3 microdeletion syndrome partial deletion of the long arm of chromosome 20 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016843 MONDO:0016918 False 20q13.33 microdeletion syndrome partial deletion of the long arm of chromosome 20 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016844 MONDO:0016938 False trisomy 20p partial trisomy of chromosome 20 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016845 MONDO:0016919 False 21q22.11q22.12 microdeletion syndrome partial deletion of the long arm of chromosome 21 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016846 MONDO:0012020 False distal 22q11.2 microduplication syndrome chromosome 22q11.2 microduplication syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016847 MONDO:0016952 False trisomy 1q partial duplication of the long arm of chromosome 1 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016848 MONDO:0043494 False juvenile temporal arteritis arteritis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016850 MONDO:0017004 False atypical Norrie disease due to monosomy Xp11.3 partial monosomy of the short arm of chromosome X UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016851 MONDO:0700027 False maternal uniparental disomy of chromosome X chromosome X disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016851 MONDO:0700086 False maternal uniparental disomy of chromosome X uniparental disomy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016852 MONDO:0700027 False paternal uniparental disomy of chromosome X chromosome X disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -27711,10 +25593,21 @@ MONDO:0016853 MONDO:0700091 False ring chromosome Y ring chromosome disorder UNS MONDO:0016854 MONDO:0700027 False 49,XXXYY syndrome chromosome X disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016854 MONDO:0700028 False 49,XXXYY syndrome chromosome Y disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016854 MONDO:0700064 False 49,XXXYY syndrome aneuploidy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016855 MONDO:0009341 False Mowat-Wilson syndrome due to monosomy 2q22 Mowat-Wilson syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016855 MONDO:0016901 False Mowat-Wilson syndrome due to monosomy 2q22 partial deletion of the long arm of chromosome 2 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016856 MONDO:0009341 False Mowat-Wilson syndrome due to a ZEB2 point mutation Mowat-Wilson syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016857 MONDO:0007201 False blepharophimosis-epicanthus inversus-ptosis due to 3q23 rearrangement syndrome blepharophimosis, ptosis, and epicanthus inversus syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016857 MONDO:0016902 False blepharophimosis-epicanthus inversus-ptosis due to 3q23 rearrangement syndrome partial deletion of the long arm of chromosome 3 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016858 MONDO:0007201 False blepharophimosis-epicanthus inversus-ptosis due to a point mutation syndrome blepharophimosis, ptosis, and epicanthus inversus syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016859 MONDO:0007201 False blepharophimosis-epicanthus inversus-ptosis due to copy number variations blepharophimosis, ptosis, and epicanthus inversus syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016860 MONDO:0016904 False familial adenomatous polyposis due to 5q22.2 microdeletion partial deletion of the long arm of chromosome 5 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016860 MONDO:0021055 False familial adenomatous polyposis due to 5q22.2 microdeletion classic familial adenomatous polyposis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016861 MONDO:0007318 False Alagille syndrome due to 20p12 microdeletion Alagille syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016861 MONDO:0016898 False Alagille syndrome due to 20p12 microdeletion partial monosomy of the short arm of chromosome 20 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016863 MONDO:0011812 False Okihiro syndrome due to 20q13 microdeletion Duane-radial ray syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016863 MONDO:0016918 False Okihiro syndrome due to 20q13 microdeletion partial deletion of the long arm of chromosome 20 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016864 MONDO:0011812 False Okihiro syndrome due to a point mutation Duane-radial ray syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016865 MONDO:0012455 False Kleefstra syndrome due to a point mutation Kleefstra syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016866 MONDO:0000761 False partial deletion of chromosome 1 syndrome caused by partial chromosomal deletion UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016866 MONDO:0700008 False partial deletion of chromosome 1 chromosome 1 disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016867 MONDO:0000761 False partial deletion of chromosome 2 syndrome caused by partial chromosomal deletion UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -27737,6 +25630,7 @@ MONDO:0016875 MONDO:0000761 False partial deletion of chromosome 10 syndrome cau MONDO:0016875 MONDO:0700017 False partial deletion of chromosome 10 chromosome 10 disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016876 MONDO:0000761 False partial deletion of chromosome 11 syndrome caused by partial chromosomal deletion UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016876 MONDO:0700018 False partial deletion of chromosome 11 chromosome 11 disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016877 MONDO:0017277 False partial deletion of the long arm of chromosome 12 partial deletion of chromosome 12 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016878 MONDO:0000761 False partial deletion of chromosome 16 syndrome caused by partial chromosomal deletion UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016878 MONDO:0700023 False partial deletion of chromosome 16 chromosome 16 disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016879 MONDO:0000761 False partial deletion of chromosome 17 syndrome caused by partial chromosomal deletion UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -27747,9 +25641,35 @@ MONDO:0016881 MONDO:0000761 False partial deletion of chromosome 19 syndrome cau MONDO:0016881 MONDO:0700024 False partial deletion of chromosome 19 chromosome 19 disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016882 MONDO:0000761 False partial deletion of chromosome 20 syndrome caused by partial chromosomal deletion UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016882 MONDO:0700025 False partial deletion of chromosome 20 chromosome 20 disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016883 MONDO:0016866 False partial deletion of the short arm of chromosome 1 partial deletion of chromosome 1 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016884 MONDO:0016867 False partial deletion of the short arm of chromosome 2 partial deletion of chromosome 2 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016885 MONDO:0016868 False partial deletion of the short arm of chromosome 3 partial deletion of chromosome 3 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016887 MONDO:0016870 False partial deletion of the short arm of chromosome 5 partial deletion of chromosome 5 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016888 MONDO:0016871 False partial deletion of the short arm of chromosome 6 partial deletion of chromosome 6 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016889 MONDO:0016872 False partial deletion of the short arm of chromosome 7 partial deletion of chromosome 7 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016890 MONDO:0016873 False partial deletion of the short arm of chromosome 8 partial deletion of chromosome 8 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016892 MONDO:0016875 False partial deletion of the short arm of chromosome 10 partial deletion of chromosome 10 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016893 MONDO:0016876 False partial deletion of the short arm of chromosome 11 partial deletion of chromosome 11 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016894 MONDO:0016878 False partial deletion of the short arm of chromosome 16 partial deletion of chromosome 16 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016897 MONDO:0016881 False partial deletion of the short arm of chromosome 19 partial deletion of chromosome 19 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016898 MONDO:0016882 False partial monosomy of the short arm of chromosome 20 partial deletion of chromosome 20 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016901 MONDO:0016867 False partial deletion of the long arm of chromosome 2 partial deletion of chromosome 2 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016902 MONDO:0016868 False partial deletion of the long arm of chromosome 3 partial deletion of chromosome 3 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016903 MONDO:0016869 False partial deletion of the long arm of chromosome 4 partial deletion of chromosome 4 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016904 MONDO:0016870 False partial deletion of the long arm of chromosome 5 partial deletion of chromosome 5 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016905 MONDO:0016871 False partial deletion of the long arm of chromosome 6 partial deletion of chromosome 6 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016906 MONDO:0016872 False partial deletion of the long arm of chromosome 7 partial deletion of chromosome 7 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016907 MONDO:0016873 False partial deletion of the long arm of chromosome 8 partial deletion of chromosome 8 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016908 MONDO:0016874 False partial monosomy of the long arm of chromosome 9 partial deletion of chromosome 9 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016909 MONDO:0016875 False partial monosomy of the long arm of chromosome 10 partial deletion of chromosome 10 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016910 MONDO:0016876 False partial deletion of the long arm of chromosome 11 partial deletion of chromosome 11 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016911 MONDO:0000761 False partial deletion of the long arm of chromosome 13 syndrome caused by partial chromosomal deletion UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016912 MONDO:0000761 False partial deletion of the long arm of chromosome 14 syndrome caused by partial chromosomal deletion UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016913 MONDO:0000761 False partial deletion of the long arm of chromosome 15 syndrome caused by partial chromosomal deletion UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016914 MONDO:0016878 False partial deletion of the long arm of chromosome 16 partial deletion of chromosome 16 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016915 MONDO:0016879 False partial deletion of the long arm of chromosome 17 partial deletion of chromosome 17 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016917 MONDO:0016881 False partial deletion of the long arm of chromosome 19 partial deletion of chromosome 19 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016918 MONDO:0016882 False partial deletion of the long arm of chromosome 20 partial deletion of chromosome 20 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016919 MONDO:0000761 False partial deletion of the long arm of chromosome 21 syndrome caused by partial chromosomal deletion UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016921 MONDO:0000762 False partial duplication of chromosome 1 syndrome caused by partial chromosomal duplication UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016921 MONDO:0700008 False partial duplication of chromosome 1 chromosome 1 disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -27784,114 +25704,273 @@ MONDO:0016937 MONDO:0000762 False partial duplication of chromosome 19 syndrome MONDO:0016937 MONDO:0700024 False partial duplication of chromosome 19 chromosome 19 disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016938 MONDO:0000762 False partial trisomy of chromosome 20 syndrome caused by partial chromosomal duplication UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016938 MONDO:0700025 False partial trisomy of chromosome 20 chromosome 20 disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016939 MONDO:0016922 False partial duplication of the short arm of chromosome 2 partial duplication of chromosome 2 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016940 MONDO:0016923 False partial duplication of the short arm of chromosome 3 partial duplication of chromosome 3 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016941 MONDO:0016924 False partial duplication of the short arm of chromosome 4 partial duplication of chromosome 4 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016942 MONDO:0016925 False partial trisomy/tetrasomy of the short arm of chromosome 5 partial trisomy/tetrasomy of chromosome 5 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016943 MONDO:0016927 False partial duplication of the short arm of chromosome 6 partial duplication of chromosome 6 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016944 MONDO:0016928 False partial duplication of the short arm of chromosome 7 partial duplication of chromosome 7 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016945 MONDO:0016929 False partial duplication of the short arm of chromosome 8 partial duplication of chromosome 8 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016947 MONDO:0016931 False partial duplication of the short arm of chromosome 10 partial duplication of chromosome 10 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016948 MONDO:0016932 False partial duplication of the short arm of chromosome 11 partial duplication of chromosome 11 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016949 MONDO:0016934 False partial duplication of the short arm of chromosome 16 partial duplication of chromosome 16 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016950 MONDO:0016935 False partial duplication of the short arm of chromosome 17 partial duplication of chromosome 17 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016951 MONDO:0016936 False partial trisomy/tetrasomy of the short arm of chromosome 18 partial trisomy/tetrasomy of chromosome 18 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016952 MONDO:0016921 False partial duplication of the long arm of chromosome 1 partial duplication of chromosome 1 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016953 MONDO:0016922 False partial duplication of the long arm of chromosome 2 partial duplication of chromosome 2 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016954 MONDO:0016923 False partial duplication of the long arm of chromosome 3 partial duplication of chromosome 3 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016955 MONDO:0016924 False partial duplication of the long arm of chromosome 4 partial duplication of chromosome 4 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016956 MONDO:0016925 False partial trisomy of the long arm of chromosome 5 partial trisomy/tetrasomy of chromosome 5 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016957 MONDO:0016927 False partial duplication of the long arm of chromosome 6 partial duplication of chromosome 6 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016958 MONDO:0016928 False partial duplication of the long arm of chromosome 7 partial duplication of chromosome 7 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016959 MONDO:0016929 False partial duplication of the long arm of chromosome 8 partial duplication of chromosome 8 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016960 MONDO:0016930 False partial trisomy of the long arm of chromosome 9 partial trisomy/tetrasomy of chromosome 9 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016961 MONDO:0016931 False partial duplication of the long arm of chromosome 10 partial duplication of chromosome 10 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016964 MONDO:0000762 False partial duplication of the long arm of chromosome 14 syndrome caused by partial chromosomal duplication UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016965 MONDO:0000762 False partial duplication of the long arm of chromosome 15 syndrome caused by partial chromosomal duplication UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016966 MONDO:0016934 False partial trisomy of the long arm of chromosome 16 partial duplication of chromosome 16 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016967 MONDO:0016935 False partial duplication of the long arm of chromosome 17 partial duplication of chromosome 17 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016968 MONDO:0016936 False partial trisomy of the long arm of chromosome 18 partial trisomy/tetrasomy of chromosome 18 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016969 MONDO:0016937 False partial duplication of the long arm of chromosome 19 partial duplication of chromosome 19 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016970 MONDO:0016938 False partial trisomy of the long arm of chromosome 20 partial trisomy of chromosome 20 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016971 MONDO:0016106 False limb-girdle muscular dystrophy progressive muscular dystrophy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016972 MONDO:0000762 False partial duplication of the long arm of chromosome 22 syndrome caused by partial chromosomal duplication UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016974 MONDO:0004805 False thymoma type B leukocyte disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0016976 MONDO:0020516 False well-differentiated thymic neuroendocrine carcinoma thymic neuroendocrine carcinoma UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016977 MONDO:0020516 False moderately-differentiated thymic neuroendocrine carcinoma thymic neuroendocrine carcinoma UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016978 MONDO:0020516 False poorly differentiated thymic neuroendocrine carcinoma thymic neuroendocrine carcinoma UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016979 MONDO:0019118 False MRCS syndrome inherited retinal dystrophy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016980 MONDO:0020119 False ATR-X-related syndrome X-linked syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016981 MONDO:0017578 False infantile spams-psychomotor retardation-progressive brain atrophy-basal ganglia disease syndrome disorder of thiamine metabolism and transport UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016982 MONDO:0018078 False angiosarcoma soft tissue sarcoma UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016983 MONDO:0015231 False Bartter syndrome with hypocalcemia Bartter syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016984 MONDO:0005073 False nevus of Ota melanocytic nevus UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016985 MONDO:0005073 False nevus of Ito melanocytic nevus UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016986 MONDO:0006499 False congenital smooth muscle hamartoma hamartoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016987 MONDO:0005395 False neuroacanthocytosis movement disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0016987 MONDO:0015548 False neuroacanthocytosis Huntington disease-like syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016988 MONDO:0015624 False hyperinsulinism due to HNF4A deficiency diazoxide-sensitive diffuse hyperinsulinism UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016989 MONDO:0002254 False Fuchs heterochromic iridocyclitis syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0016989 MONDO:0017634 False Fuchs heterochromic iridocyclitis non-infectious anterior uveitis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016990 MONDO:0024307 False acquired prothrombin deficiency prothrombin deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016991 MONDO:0020067 False acute necrotizing encephalopathy of childhood infectious encephalitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016993 MONDO:0010033 False generalized peeling skin syndrome type C generalized peeling skin syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016994 MONDO:0002254 False microcephalic osteodysplastic primordial dwarfism types I and III syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016994 MONDO:0800063 False microcephalic osteodysplastic primordial dwarfism types I and III primordial dwarfism and slender bone disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016995 MONDO:0016743 False familial multiple meningioma tumor of meninges UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016996 MONDO:0005020 False NK-cell enteropathy intestinal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017003 MONDO:0000761 False partial deletion of chromosome X syndrome caused by partial chromosomal deletion UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017003 MONDO:0700027 False partial deletion of chromosome X chromosome X disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017004 MONDO:0017003 False partial monosomy of the short arm of chromosome X partial deletion of chromosome X UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017007 MONDO:0017003 False partial deletion of the long arm of chromosome X partial deletion of chromosome X UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017008 MONDO:0000762 False partial duplication of chromosome X syndrome caused by partial chromosomal duplication UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017008 MONDO:0700027 False partial duplication of chromosome X chromosome X disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017009 MONDO:0017008 False partial duplication of the short arm of chromosome X partial duplication of chromosome X UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017010 MONDO:0017008 False partial duplication of the long arm of chromosome X partial duplication of chromosome X UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017012 MONDO:0016921 False partial duplication of the short arm of chromosome 1 partial duplication of chromosome 1 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017013 MONDO:0016945 False trisomy 8p partial duplication of the short arm of chromosome 8 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017014 MONDO:0015925 False interstitial lung disease specific to childhood interstitial lung disease UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017015 MONDO:0017014 False primary interstitial lung disease specific to childhood interstitial lung disease specific to childhood UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017018 MONDO:0015925 False isolated pulmonary capillaritis interstitial lung disease UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017019 MONDO:0017015 False interstitial lung disease specific to infancy primary interstitial lung disease specific to childhood UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017026 MONDO:0015925 False interstitial lung disease specific to adulthood interstitial lung disease UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017029 MONDO:0017026 False Langerhans cell histiocytosis specific to adulthood interstitial lung disease specific to adulthood UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017029 MONDO:0021117 False Langerhans cell histiocytosis specific to adulthood lung neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017039 MONDO:0015925 False drug or radiation exposure-related interstitial lung disease interstitial lung disease UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017041 MONDO:0002254 False osteochondrodysplatic nanism-deafness-retinitis pigmentosa syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017041 MONDO:0003847 False osteochondrodysplatic nanism-deafness-retinitis pigmentosa syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017041 MONDO:0024458 False osteochondrodysplatic nanism-deafness-retinitis pigmentosa syndrome disorder of visual system UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017042 MONDO:0005516 False thanatophoric dysplasia osteochondrodysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0017042 MONDO:0019685 False thanatophoric dysplasia FGFR3-related chondrodysplasia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017043 MONDO:0003130 False congenital mesoblastic nephroma mesoblastic nephroma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017044 MONDO:0019741 False adult familial nephronophthisis-spastic quadriparesia syndrome familial cystic renal disease UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017045 MONDO:0015126 False neuroectodermal-endocrine syndrome polyendocrinopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017045 MONDO:0015159 False neuroectodermal-endocrine syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017048 MONDO:0018330 False pseudomyxoma peritonei mucinous adenocarcinoma of the appendix UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017051 MONDO:0009563 False classic maple syrup urine disease maple syrup urine disease UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017052 MONDO:0009563 False intermediate maple syrup urine disease maple syrup urine disease UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017053 MONDO:0009563 False intermittent maple syrup urine disease maple syrup urine disease UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017054 MONDO:0009563 False thiamine-responsive maple syrup urine disease maple syrup urine disease UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017055 MONDO:0016677 False mycophenolate mofetil embryopathy toxic or drug-related embryofetopathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017056 MONDO:0013578 False DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion DYRK1A-related intellectual disability syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017056 MONDO:0016919 False DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion partial deletion of the long arm of chromosome 21 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017058 MONDO:0006025 False autosomal recessive intermediate Charcot-Marie-Tooth disease autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017058 MONDO:0018778 False autosomal recessive intermediate Charcot-Marie-Tooth disease intermediate Charcot-Marie-Tooth disease UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017060 MONDO:0018968 False open iniencephaly iniencephaly UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017061 MONDO:0018968 False closed iniencephaly iniencephaly UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017062 MONDO:0019351 False spina bifida aperta isolated spina bifida UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017063 MONDO:0017062 False total spina bifida aperta spina bifida aperta UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017064 MONDO:0017062 False thoracolumbosacral spina bifida aperta spina bifida aperta UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017065 MONDO:0017062 False lumbosacral spina bifida aperta spina bifida aperta UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017066 MONDO:0017062 False cervical spina bifida aperta spina bifida aperta UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017067 MONDO:0017062 False cervicothoracic spina bifida aperta spina bifida aperta UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017068 MONDO:0017062 False upper thoracic spina bifida aperta spina bifida aperta UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017069 MONDO:0019351 False spina bifida cystica isolated spina bifida UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017070 MONDO:0019773 False total spina bifida cystica myelomeningocele UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017071 MONDO:0019773 False thoracolumbosacral spina bifida cystica myelomeningocele UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017072 MONDO:0019773 False lumbosacral spina bifida cystica myelomeningocele UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017073 MONDO:0019773 False cervical spina bifida cystica myelomeningocele UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017074 MONDO:0019773 False cervicothoracic spina bifida cystica myelomeningocele UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017075 MONDO:0019773 False upper thoracic spina bifida cystica myelomeningocele UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017078 MONDO:0002320 False cephalocele congenital nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017076 MONDO:0017069 False posterior meningocele spina bifida cystica UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017077 MONDO:0017069 False myelocystocele spina bifida cystica UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017078 MONDO:0021147 False cephalocele disorder of development or morphogenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017079 MONDO:0001147 False meningoencephalocele meningocele UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017079 MONDO:0005560 False meningoencephalocele brain disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017079 MONDO:0017078 False meningoencephalocele cephalocele UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017080 MONDO:0016057 False occipital encephalocele isolated encephalocele UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017081 MONDO:0016057 False parietal encephalocele isolated encephalocele UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017082 MONDO:0016057 False basal encephalocele isolated encephalocele UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017084 MONDO:0018075 False leptomyelolipoma neural tube defect UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017086 MONDO:0018075 False primary tethered cord syndrome neural tube defect UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017087 MONDO:0018075 False neurenteric cyst neural tube defect UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017088 MONDO:0018075 False isolated amyelia neural tube defect UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017089 MONDO:0016608 False isolated megalencephaly megalencephaly UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017091 MONDO:0000087 False bilateral polymicrogyria polymicrogyria UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017092 MONDO:0000087 False unilateral polymicrogyria polymicrogyria UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017093 MONDO:0017092 False unilateral focal polymicrogyria unilateral polymicrogyria UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017094 MONDO:0005560 False cerebral cortical dysplasia brain disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017094 MONDO:0021147 False cerebral cortical dysplasia disorder of development or morphogenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017095 MONDO:0019009 False isolated focal cortical dysplasia type I isolated focal cortical dysplasia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017096 MONDO:0017095 False isolated focal cortical dysplasia type Ia isolated focal cortical dysplasia type I UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017097 MONDO:0017095 False isolated focal cortical dysplasia type Ib isolated focal cortical dysplasia type I UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017098 MONDO:0017095 False isolated focal cortical dysplasia type Ic isolated focal cortical dysplasia type I UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017100 MONDO:0015134 False neutropenia-monocytopenia-deafness syndrome constitutional neutropenia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017101 MONDO:0011818 False isolated focal cortical dysplasia type IIa isolated focal cortical dysplasia type II UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017102 MONDO:0011818 False isolated focal cortical dysplasia type IIb isolated focal cortical dysplasia type II UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017103 MONDO:0005560 False encephaloclastic disorder brain disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017105 MONDO:0020022 False glioependymal/ependymal cyst central nervous system malformation UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017107 MONDO:0020022 False isolated cerebellar vermis agenesis central nervous system malformation UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017108 MONDO:0017107 False isolated total cerebellar vermis agenesis isolated cerebellar vermis agenesis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017109 MONDO:0017107 False isolated partial cerebellar vermis agenesis isolated cerebellar vermis agenesis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017110 MONDO:0009072 False isolated Dandy-Walker malformation with hydrocephalus Dandy-Walker syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017111 MONDO:0009072 False isolated Dandy-Walker malformation without hydrocephalus Dandy-Walker syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017112 MONDO:0020022 False isolated unilateral hemispheric cerebellar hypoplasia central nervous system malformation UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017113 MONDO:0020022 False isolated bilateral hemispheric cerebellar hypoplasia central nervous system malformation UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017116 MONDO:0016349 False congenital communicating hydrocephalus congenital hydrocephalus UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017117 MONDO:0016349 False congenital non-communicating hydrocephalus congenital hydrocephalus UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017123 MONDO:0002254 False arthrogryposis-renal dysfunction-cholestasis syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0017123 MONDO:0008823 False arthrogryposis-renal dysfunction-cholestasis syndrome arthrogryposis multiplex congenita 2, neurogenic type UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS MONDO:0017123 MONDO:0015327 False arthrogryposis-renal dysfunction-cholestasis syndrome developmental anomaly of metabolic origin UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017123 MONDO:0017755 False arthrogryposis-renal dysfunction-cholestasis syndrome inborn disorder of bilirubin metabolism UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017124 MONDO:0005113 False noma bacterial infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0017126 MONDO:0002254 False oculo-skeletal-renal syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017134 MONDO:0019287 False odonto-onycho dysplasia-alopecia syndrome ectodermal dysplasia syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017135 MONDO:0002254 False olivopontocerebellar atrophy-deafness syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017136 MONDO:0018230 False omodysplasia skeletal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017137 MONDO:0005943 False onchocerciasis Rhabditida infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017137 MONDO:0016075 False onchocerciasis filariasis UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0017137 MONDO:0100120 False onchocerciasis vector-borne disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017138 MONDO:0003847 False Opitz G/BBB syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0017138 MONDO:0008537 False Opitz G/BBB syndrome telecanthus UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0017138 MONDO:0015159 False Opitz G/BBB syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017139 MONDO:0003847 False oromandibular-limb hypogenesis syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017139 MONDO:0015498 False oromandibular-limb hypogenesis syndrome oromandibular-limb anomalies syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017140 MONDO:0021147 False L1 syndrome disorder of development or morphogenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017145 MONDO:0002280 False beta-thalassemia and related diseases anemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017145 MONDO:0019050 False beta-thalassemia and related diseases inherited hemoglobinopathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017147 MONDO:0015924 False idiopathic pulmonary arterial hypertension pulmonary arterial hypertension UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017147 MONDO:0700007 False idiopathic pulmonary arterial hypertension idiopathic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017148 MONDO:0003847 False heritable pulmonary arterial hypertension hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017148 MONDO:0015924 False heritable pulmonary arterial hypertension pulmonary arterial hypertension UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017149 MONDO:0015924 False drug- or toxin-induced pulmonary arterial hypertension pulmonary arterial hypertension UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017157 MONDO:0005149 False pulmonary hypertension owing to lung disease and/or hypoxia pulmonary hypertension UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017160 MONDO:0005395 False behavioral variant of frontotemporal dementia movement disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017160 MONDO:0017276 False behavioral variant of frontotemporal dementia frontotemporal dementia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017161 MONDO:0005395 False frontotemporal dementia with motor neuron disease movement disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017161 MONDO:0015547 False frontotemporal dementia with motor neuron disease hereditary dementia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017161 MONDO:0024237 False frontotemporal dementia with motor neuron disease inherited neurodegenerative disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017162 MONDO:0002254 False imperforate oropharynx-costo vetebral anomalies syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017162 MONDO:0003847 False imperforate oropharynx-costo vetebral anomalies syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017162 MONDO:0018234 False imperforate oropharynx-costo vetebral anomalies syndrome dysostosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017164 MONDO:0003664 False hemolytic disease of the newborn with Kell alloimmunization hemolytic anemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017165 MONDO:0019218 False bile acid CoA ligase deficiency and defective amidation inborn disorder of bile acid synthesis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017167 MONDO:0005586 False malignant epithelial tumor of salivary glands head and neck neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017167 MONDO:0021223 False malignant epithelial tumor of salivary glands digestive system neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017168 MONDO:0005586 False benign epithelial tumor of salivary glands head and neck neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017168 MONDO:0021223 False benign epithelial tumor of salivary glands digestive system neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017169 MONDO:0015079 False multiple endocrine neoplasia multiple polyglandular tumor UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017169 MONDO:0015356 False multiple endocrine neoplasia hereditary neoplastic syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017169 MONDO:0021635 False multiple endocrine neoplasia neurocristopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017170 MONDO:0005071 False idiopathic recurrent stupor nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017170 MONDO:0700007 False idiopathic recurrent stupor idiopathic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017171 MONDO:0009661 False mucopolysaccharidosis type 6, rapidly progressing mucopolysaccharidosis type 6 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017172 MONDO:0009661 False mucopolysaccharidosis type 6, slowly progressing mucopolysaccharidosis type 6 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017174 MONDO:0007182 False Machado-Joseph disease type 1 Machado-Joseph disease UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017175 MONDO:0007182 False Machado-Joseph disease type 2 Machado-Joseph disease UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017176 MONDO:0007182 False Machado-Joseph disease type 3 Machado-Joseph disease UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017177 MONDO:0019716 False hemihyperplasia-multiple lipomatosis syndrome overgrowth syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017177 MONDO:0019755 False hemihyperplasia-multiple lipomatosis syndrome developmental defect during embryogenesis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017178 MONDO:0018383 False osteochondritis dissecans osteonecrosis of genetic origin UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017179 MONDO:0015588 False limbic encephalitis with caspr2 antibodies limbic encephalitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017180 MONDO:0016961 False 10q22.3q23.3 microduplication syndrome partial duplication of the long arm of chromosome 10 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017181 MONDO:0021146 False hypnic headache headache disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017182 MONDO:0002177 False familial hyperinsulinism hyperinsulinism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017182 MONDO:0005803 False familial hyperinsulinism hyperinsulinemic hypoglycemia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017183 MONDO:0015624 False hyperinsulinism due to UCP2 deficiency diazoxide-sensitive diffuse hyperinsulinism UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017184 MONDO:0015624 False autosomal dominant hyperinsulinism due to SUR1 deficiency diazoxide-sensitive diffuse hyperinsulinism UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017185 MONDO:0011153 False autosomal dominant hyperinsulinism due to Kir6.2 deficiency hyperinsulinemic hypoglycemia, familial, 2 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017185 MONDO:0015624 False autosomal dominant hyperinsulinism due to Kir6.2 deficiency diazoxide-sensitive diffuse hyperinsulinism UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017186 MONDO:0019010 False diazoxide-resistant hyperinsulinism congenital isolated hyperinsulinism UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017187 MONDO:0009734 False diazoxide-resistant focal hyperinsulinism due to SUR1 deficiency hyperinsulinemic hypoglycemia, familial, 1 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017187 MONDO:0019265 False diazoxide-resistant focal hyperinsulinism due to SUR1 deficiency diazoxide-resistant focal hyperinsulinism UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017188 MONDO:0011153 False diazoxide-resistant focal hyperinsulinism due to Kir6.2 deficiency hyperinsulinemic hypoglycemia, familial, 2 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017188 MONDO:0019265 False diazoxide-resistant focal hyperinsulinism due to Kir6.2 deficiency diazoxide-resistant focal hyperinsulinism UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017189 MONDO:0017182 False adult-onset non-insulinoma persistent hyperinsulinemic hypoglycemia familial hyperinsulinism UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017190 MONDO:0000448 False sporadic pheochromocytoma/secreting paraganglioma paraganglioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017191 MONDO:0017190 False sporadic pheochromocytoma sporadic pheochromocytoma/secreting paraganglioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017192 MONDO:0017190 False sporadic secreting paraganglioma sporadic pheochromocytoma/secreting paraganglioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017193 MONDO:0015160 False symptomatic form of Coffin-Lowry syndrome in female carriers multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017194 MONDO:0005516 False Blount disease osteochondrodysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0017194 MONDO:0019698 False Blount disease bent bone dysplasia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017195 MONDO:0002254 False Bruck syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0017195 MONDO:0018230 False Bruck syndrome skeletal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017196 MONDO:0004884 False osteogenesis imperfecta-retinopathy-seizures-intellectual disability syndrome eye degenerative disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017196 MONDO:0005283 False osteogenesis imperfecta-retinopathy-seizures-intellectual disability syndrome retinal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017196 MONDO:0005287 False osteogenesis imperfecta-retinopathy-seizures-intellectual disability syndrome developmental disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017196 MONDO:0019019 False osteogenesis imperfecta-retinopathy-seizures-intellectual disability syndrome osteogenesis imperfecta UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017196 MONDO:0043878 False osteogenesis imperfecta-retinopathy-seizures-intellectual disability syndrome hereditary optic atrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017197 MONDO:0019289 False osteopathia striata-pigmentary dermopathy-white forelock syndrome hyperpigmentation of the skin UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017197 MONDO:0100118 False osteopathia striata-pigmentary dermopathy-white forelock syndrome hereditary skin disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017198 MONDO:0018230 False osteopetrosis skeletal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017198 MONDO:0042973 False osteopetrosis familial osteosclerosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017199 MONDO:0002254 False osteoporosis-macrocephaly-blindness-joint hyperlaxity syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017200 MONDO:0002263 False polycystic ovaries-urethral sphincter dysfunction syndrome female reproductive system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017201 MONDO:0005328 False Spasmus nutans eye disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017202 MONDO:0004863 False acute endophthalmitis purulent endophthalmitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0017202 MONDO:0020683 False acute endophthalmitis acute disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017203 MONDO:0004863 False chronic endophthalmitis purulent endophthalmitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0017204 MONDO:0005328 False toxic maculopathy due to antimalarial drugs eye disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017205 MONDO:0004034 False primary oculocerebral lymphoma eye lymphoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017205 MONDO:0017207 False primary oculocerebral lymphoma primary organ-specific lymphoma UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017209 MONDO:0001280 False infectious posterior uveitis choroiditis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017209 MONDO:0016047 False infectious posterior uveitis endophthalmitis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017210 MONDO:0004773 False infectious anterior uveitis iridocyclitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0017210 MONDO:0016047 False infectious anterior uveitis endophthalmitis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0017211 MONDO:0016047 False infectious panuveitis endophthalmitis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017211 MONDO:0017255 False infectious panuveitis panuveitis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017212 MONDO:0001280 False paraneoplastic uveitis choroiditis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017213 MONDO:0002118 False postorgasmic illness syndrome urinary system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017213 MONDO:0003150 False postorgasmic illness syndrome male reproductive system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017214 MONDO:0002012 False vitamin B12-responsive methylmalonic acidemia methylmalonic acidemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017215 MONDO:0002254 False calciphylaxis syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0017214 MONDO:0019215 False vitamin B12-responsive methylmalonic acidemia classic organic aciduria UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017214 MONDO:0019220 False vitamin B12-responsive methylmalonic acidemia inborn disorder of cobalamin metabolism and transport UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017215 MONDO:0002123 False calciphylaxis calcinosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0017215 MONDO:0005385 False calciphylaxis vascular disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0017216 MONDO:0017215 False calciphylaxis cutis calciphylaxis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017216 MONDO:0019293 False calciphylaxis cutis skin vascular disease UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017217 MONDO:0017215 False visceral calciphylaxis calciphylaxis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017219 MONDO:0016296 False microform holoprosencephaly holoprosencephaly UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0017220 MONDO:0016060 False laryngotracheoesophageal cleft type 0 laryngotracheoesophageal cleft UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017221 MONDO:0010714 False Pelizaeus-Merzbacher disease, connatal form Pelizeaus-Merzbacher spectrum disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017222 MONDO:0010714 False Pelizaeus-Merzbacher disease, classic form Pelizeaus-Merzbacher spectrum disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017223 MONDO:0010714 False Pelizaeus-Merzbacher disease, transitional form Pelizeaus-Merzbacher spectrum disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017224 MONDO:0010714 False Pelizaeus-Merzbacher disease in female carriers Pelizeaus-Merzbacher spectrum disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017225 MONDO:0010714 False null syndrome Pelizeaus-Merzbacher spectrum disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017226 MONDO:0019046 False Pelizaeus-Merzbacher-like disease leukodystrophy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017227 MONDO:0005003 False autoimmune pancreatitis type 1 chronic pancreatitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017227 MONDO:0015175 False autoimmune pancreatitis type 1 autoimmune pancreatitis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017228 MONDO:0015175 False autoimmune pancreatitis type 2 autoimmune pancreatitis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017229 MONDO:0022174 False distal monosomy 12p chromosome 12p deletion UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017230 MONDO:0020088 False autosomal semi-dominant severe lipodystrophic laminopathy familial partial lipodystrophy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017231 MONDO:0019142 False erythropoietic uroporphyria associated with myeloid malignancy inherited porphyria UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017232 MONDO:0002254 False recessive intellectual disability-motor dysfunction-multiple joint contractures syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017233 MONDO:0003847 False familial Alzheimer-like prion disease hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017233 MONDO:0005429 False familial Alzheimer-like prion disease prion disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -27899,125 +25978,254 @@ MONDO:0017235 MONDO:0021147 False familial omphalocele syndrome with facial dysm MONDO:0017237 MONDO:0015358 False hereditary sensorimotor neuropathy with hyperelastic skin hereditary motor and sensory neuropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017238 MONDO:0002280 False hemoglobinopathy Toms River anemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017238 MONDO:0013511 False hemoglobinopathy Toms River cyanosis, transient neonatal UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017238 MONDO:0019050 False hemoglobinopathy Toms River inherited hemoglobinopathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017239 MONDO:0007771 False familial progressive hyper- and hypopigmentation hyperpigmentation with or without hypopigmentation, familial progressive UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017242 MONDO:0019293 False cutaneous collagenous vasculopathy skin vascular disease UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017243 MONDO:0019315 False bullous diffuse cutaneous mastocytosis diffuse cutaneous mastocytosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017244 MONDO:0019315 False pseudoxanthomatous diffuse cutaneous mastocytosis diffuse cutaneous mastocytosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017245 MONDO:0017843 False intralobar congenital pulmonary sequestration congenital pulmonary sequestration UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017246 MONDO:0017843 False extralobar congenital pulmonary sequestration congenital pulmonary sequestration UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017247 MONDO:0017843 False communicating congenital bronchopulmonary-foregut malformation congenital pulmonary sequestration UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017248 MONDO:0016580 False congenital pulmonary airway malformation type 0 congenital pulmonary airway malformation UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017249 MONDO:0016580 False congenital pulmonary airway malformation type 1 congenital pulmonary airway malformation UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017250 MONDO:0016580 False congenital pulmonary airway malformation type 2 congenital pulmonary airway malformation UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017251 MONDO:0016580 False congenital pulmonary airway malformation type 3 congenital pulmonary airway malformation UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017252 MONDO:0016580 False congenital pulmonary airway malformation type 4 congenital pulmonary airway malformation UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017256 MONDO:0006651 False idiopathic anterior uveitis anterior uveitis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017256 MONDO:0700007 False idiopathic anterior uveitis idiopathic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017257 MONDO:0020283 False idiopathic posterior uveitis uveitis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017257 MONDO:0700007 False idiopathic posterior uveitis idiopathic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017258 MONDO:0017255 False idiopathic panuveitis panuveitis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017258 MONDO:0700007 False idiopathic panuveitis idiopathic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017264 MONDO:0005328 False syndromic recessive X-linked ichthyosis eye disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017264 MONDO:0017269 False syndromic recessive X-linked ichthyosis X-linked ichthyosis syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017265 MONDO:0015947 False autosomal recessive congenital ichthyosis inherited ichthyosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017266 MONDO:0015947 False keratinopathic ichthyosis inherited ichthyosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017267 MONDO:0017265 False self-healing collodion baby autosomal recessive congenital ichthyosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017268 MONDO:0017265 False acral self-healing collodion baby autosomal recessive congenital ichthyosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017269 MONDO:0002051 False X-linked ichthyosis syndrome integumentary system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017269 MONDO:0002254 False X-linked ichthyosis syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017275 MONDO:0015087 False spastic paraplegia-facial-cutaneous lesions syndrome autosomal dominant complex spastic paraplegia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017276 MONDO:0015547 False frontotemporal dementia hereditary dementia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017276 MONDO:0024237 False frontotemporal dementia inherited neurodegenerative disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017277 MONDO:0000761 False partial deletion of chromosome 12 syndrome caused by partial chromosomal deletion UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017277 MONDO:0700019 False partial deletion of chromosome 12 chromosome 12 disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017278 MONDO:0002254 False autoimmune polyendocrinopathy syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0017278 MONDO:0000569 False autoimmune polyendocrinopathy autoimmune disorder of endocrine system UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0017278 MONDO:0015126 False autoimmune polyendocrinopathy polyendocrinopathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017279 MONDO:0005180 False young-onset Parkinson disease Parkinson disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0017280 MONDO:0002051 False demodicidosis integumentary system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017280 MONDO:0005135 False demodicidosis parasitic infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017281 MONDO:0002254 False renal caliceal diverticuli-deafness syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017282 MONDO:0005738 False alveolar echinococcosis echinococcosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0017283 MONDO:0016892 False DeSanto-Shinawi Syndrome due to 10p11.21p12.31 microdeletion partial deletion of the short arm of chromosome 10 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017283 MONDO:0018760 False DeSanto-Shinawi Syndrome due to 10p11.21p12.31 microdeletion DeSanto-Shinawi syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017284 MONDO:0015159 False Xp22.13p22.2 duplication syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017284 MONDO:0017009 False Xp22.13p22.2 duplication syndrome partial duplication of the short arm of chromosome X UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017285 MONDO:0003150 False penoscrotal transposition male reproductive system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017285 MONDO:0021147 False penoscrotal transposition disorder of development or morphogenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017286 MONDO:0007179 False tempi syndrome autoimmune disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017287 MONDO:0007179 False IgG4-related disease autoimmune disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0017289 MONDO:0011014 False fetal lung interstitial tumor pleuropulmonary blastoma UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017290 MONDO:0005154 False familial intrahepatic cholestasis liver disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017290 MONDO:0019052 False familial intrahepatic cholestasis inborn errors of metabolism UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017290 MONDO:0019072 False familial intrahepatic cholestasis intrahepatic cholestasis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017291 MONDO:0021146 False reversible cerebral vasoconstriction syndrome headache disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017295 MONDO:0018459 False glycerol kinase deficiency, juvenile form isolated glycerol kinase deficiency UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017295 MONDO:0019225 False glycerol kinase deficiency, juvenile form disorder of gluconeogenesis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017296 MONDO:0018459 False glycerol kinase deficiency, adult form isolated glycerol kinase deficiency UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017296 MONDO:0019225 False glycerol kinase deficiency, adult form disorder of gluconeogenesis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017297 MONDO:0005071 False chronic lymphocytic inflammation with pontine perivascular enhancement responsive to steroids nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017298 MONDO:0005328 False acute zonal occult outer retinopathy eye disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017298 MONDO:0020683 False acute zonal occult outer retinopathy acute disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017299 MONDO:0005328 False acute annular outer retinopathy eye disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017299 MONDO:0020683 False acute annular outer retinopathy acute disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017300 MONDO:0019512 False congenital pericardium anomaly congenital heart malformation UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017301 MONDO:0021147 False pericardial and diaphragmatic defect disorder of development or morphogenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017303 MONDO:0016139 False qualitative or quantitative defects of tropomyosin qualitative or quantitative protein defects in neuromuscular diseases UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017304 MONDO:0018134 False ocular albinism disorder of melanin metabolism UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017304 MONDO:0024458 False ocular albinism disorder of visual system UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017305 MONDO:0002254 False syndromic oculocutaneous albinism syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017305 MONDO:0018134 False syndromic oculocutaneous albinism disorder of melanin metabolism UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017305 MONDO:0019290 False syndromic oculocutaneous albinism hypopigmentation of the skin UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017305 MONDO:0100118 False syndromic oculocutaneous albinism hereditary skin disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017306 MONDO:0019189 False disorder of phenylalanine metabolism inborn disorder of amino acid and other organic acid metabolism UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017306 MONDO:0019235 False disorder of phenylalanine metabolism inborn disorder of phenylalanine and tyrosine metabolism UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017306 MONDO:0037871 False disorder of phenylalanine metabolism amino acid metabolism disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017307 MONDO:0019189 False disorder of tyrosine metabolism inborn disorder of amino acid and other organic acid metabolism UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017307 MONDO:0019235 False disorder of tyrosine metabolism inborn disorder of phenylalanine and tyrosine metabolism UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017307 MONDO:0037871 False disorder of tyrosine metabolism amino acid metabolism disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017309 MONDO:0005385 False neonatal Marfan syndrome vascular disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017309 MONDO:0007947 False neonatal Marfan syndrome Marfan syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017310 MONDO:0023603 False Marfan and Marfan-related disorder hereditary disorder of connective tissue UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017312 MONDO:0006025 False Perrault syndrome autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0017312 MONDO:0016387 False Perrault syndrome mitochondrial oxidative phosphorylation disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017312 MONDO:0019852 False Perrault syndrome inherited primary ovarian failure UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0017313 MONDO:0017758 False disorder of folate metabolism and transport disorder of vitamin and non-protein cofactor absorption and transport UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017314 MONDO:0005385 False Ehlers-Danlos syndrome, vascular type vascular disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017315 MONDO:0015159 False short stature-webbed neck-heart disease syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017316 MONDO:0002254 False short stature-deafness-neutrophil dysfunction-dysmorphism syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017317 MONDO:0000648 False phakomatosis pigmentokeratotica nervous system benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017317 MONDO:0005073 False phakomatosis pigmentokeratotica melanocytic nevus UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017317 MONDO:0019755 False phakomatosis pigmentokeratotica developmental defect during embryogenesis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017317 MONDO:0042983 False phakomatosis pigmentokeratotica neurocutaneous syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017317 MONDO:0100118 False phakomatosis pigmentokeratotica hereditary skin disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017318 MONDO:0005328 False phakomatosis pigmentovascularis eye disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017318 MONDO:0019289 False phakomatosis pigmentovascularis hyperpigmentation of the skin UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017318 MONDO:0019755 False phakomatosis pigmentovascularis developmental defect during embryogenesis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017318 MONDO:0042983 False phakomatosis pigmentovascularis neurocutaneous syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017320 MONDO:0019225 False phosphoenolpyruvate carboxykinase deficiency disorder of gluconeogenesis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017321 MONDO:0019287 False pili torti-onychodysplasia syndrome ectodermal dysplasia syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017322 MONDO:0005151 False disorders of vitamin D metabolism endocrine system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017322 MONDO:0005528 False disorders of vitamin D metabolism inborn vitamin metabolic disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017323 MONDO:0005520 False hypocalcemic rickets rickets UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017323 MONDO:0017322 False hypocalcemic rickets disorders of vitamin D metabolism UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017324 MONDO:0000044 False autosomal recessive hypophosphatemic rickets hereditary hypophosphatemic rickets UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017324 MONDO:0006025 False autosomal recessive hypophosphatemic rickets autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0017325 MONDO:0020072 False early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation childhood-onset epilepsy syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017326 MONDO:0005108 False infective dermatitis associated with HTLV-1 viral infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017326 MONDO:0024294 False infective dermatitis associated with HTLV-1 skin disorder caused by infection UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017327 MONDO:0018171 False primary non-gestational choriocarcinoma of ovary malignant germ cell tumor of ovary UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017328 MONDO:0005440 False non-central nervous system-localized embryonal carcinoma embryonal carcinoma UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017329 MONDO:0003847 False familial vesicoureteral reflux hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017329 MONDO:0006007 False familial vesicoureteral reflux vesicoureteral reflux UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017330 MONDO:0024575 False malignancy diagnosed during pregnancy pregnancy disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017331 MONDO:0003847 False Pilotto syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017340 MONDO:0024623 False juvenile nasopharyngeal angiofibroma otorhinolaryngologic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017332 MONDO:0019751 False pyoderma gangrenosum-acne-suppurative hidradenitis syndrome autoinflammatory syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017334 MONDO:0016877 False 12q15q21.1 microdeletion syndrome partial deletion of the long arm of chromosome 12 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017335 MONDO:0015159 False microtriplication 11q24.1 multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017335 MONDO:0022173 False microtriplication 11q24.1 chromosome 11q trisomy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017337 MONDO:0015129 False inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency chronic primary adrenal insufficiency UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017338 MONDO:0018424 False fatal multiple mitochondrial dysfunctions syndrome inherited lipoic acid biosynthesis defect UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017339 MONDO:0017265 False exfoliative ichthyosis autosomal recessive congenital ichthyosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017341 MONDO:0005070 False virus associated tumor neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017341 MONDO:0021674 False virus associated tumor post-viral disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017342 MONDO:0017341 False Epstein-Barr virus-related tumor virus associated tumor UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017343 MONDO:0017342 False Epstein-Barr virus-associated malignant lymphoproliferative disorder Epstein-Barr virus-related tumor UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017344 MONDO:0017342 False Epstein-Barr virus-associated carcinoma Epstein-Barr virus-related tumor UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017345 MONDO:0017342 False Epstein-Barr virus-associated mesenchymal tumor Epstein-Barr virus-related tumor UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017346 MONDO:0017343 False Epstein-Barr virus-positive diffuse large B-cell lymphoma of the elderly Epstein-Barr virus-associated malignant lymphoproliferative disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017347 MONDO:0017343 False plasmablastic lymphoma Epstein-Barr virus-associated malignant lymphoproliferative disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017348 MONDO:0017344 False lymphoepithelial-like carcinoma Epstein-Barr virus-associated carcinoma UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017349 MONDO:0017345 False myopericytoma Epstein-Barr virus-associated mesenchymal tumor UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017350 MONDO:0019189 False inborn disorder of tryptophan metabolism inborn disorder of amino acid and other organic acid metabolism UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017350 MONDO:0037871 False inborn disorder of tryptophan metabolism amino acid metabolism disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017351 MONDO:0037938 False inborn disorder of lysine and hydroxylysine metabolism inborn disorder of aspartate family metabolism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017352 MONDO:0019189 False disorder of glutamine metabolism inborn disorder of amino acid and other organic acid metabolism UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017353 MONDO:0011612 False neonatal glycine encephalopathy glycine encephalopathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017354 MONDO:0011612 False infantile glycine encephalopathy glycine encephalopathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017355 MONDO:0019230 False inborn disorder of proline metabolism inborn disorder of ornithine or proline metabolism UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017355 MONDO:0037871 False inborn disorder of proline metabolism amino acid metabolism disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017356 MONDO:0019230 False inborn disorder of ornithine metabolism inborn disorder of ornithine or proline metabolism UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017356 MONDO:0037871 False inborn disorder of ornithine metabolism amino acid metabolism disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017357 MONDO:0005087 False transient hyperammonemia of the newborn respiratory system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017361 MONDO:0004656 False congenital rubella syndrome rubella UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017359 MONDO:0019215 False 3-methylglutaconic aciduria classic organic aciduria UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017360 MONDO:0009612 False vitamin B12-unresponsive methylmalonic acidemia type mut0 methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017361 MONDO:0016511 False congenital rubella syndrome infectious embryofetopathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017362 MONDO:0015923 False neuralgic amyotrophy acquired peripheral neuropathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017363 MONDO:0015927 False idiopathic chronic eosinophilic pneumonia idiopathic eosinophilic pneumonia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017363 MONDO:0017853 False idiopathic chronic eosinophilic pneumonia hypersensitivity pneumonitis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017364 MONDO:0004805 False POEMS syndrome leukocyte disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0017364 MONDO:0015923 False POEMS syndrome acquired peripheral neuropathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017364 MONDO:0018215 False POEMS syndrome paraneoplastic neurologic syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017365 MONDO:0008260 False hereditary acrokeratotic poikiloderma, Weary type Kindler syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017366 MONDO:0005495 False hereditary pheochromocytoma-paraganglioma adrenal gland disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017372 MONDO:0002254 False congenital varicella syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017372 MONDO:0005108 False congenital varicella syndrome viral infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017372 MONDO:0016511 False congenital varicella syndrome infectious embryofetopathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017373 MONDO:0002565 False poliomyelitis myelitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0017373 MONDO:0003182 False poliomyelitis anterior horn disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0017373 MONDO:0020129 False poliomyelitis acquired motor neuron disease UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017373 MONDO:0020683 False poliomyelitis acute disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017373 MONDO:0024318 False poliomyelitis viral infection of central nervous system UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017373 MONDO:0024618 False poliomyelitis poliovirus infection UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017375 MONDO:0005747 False congenital enterovirus infection enterovirus infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017375 MONDO:0016511 False congenital enterovirus infection infectious embryofetopathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017376 MONDO:0005554 False reactive arthritis rheumatic disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0017377 MONDO:0015159 False preaxial polydactyly-colobomata-intellectual disability syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017379 MONDO:0002254 False polyneuropathy-intellectual disability-acromicria-premature menopause syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017380 MONDO:0004335 False juvenile polyposis syndrome digestive system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017380 MONDO:0015185 False juvenile polyposis syndrome intestinal polyposis syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017381 MONDO:0004609 False congenital herpes simplex virus infection herpes simplex infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017381 MONDO:0042971 False congenital herpes simplex virus infection congenital herpes virus infection UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017382 MONDO:0007342 False familial clubfoot due to 5q31 microdeletion clubfoot UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017383 MONDO:0007342 False familial clubfoot due to PITX1 point mutation clubfoot UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017384 MONDO:0002406 False acute generalized exanthematous pustulosis dermatitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017384 MONDO:0017396 False acute generalized exanthematous pustulosis toxic dermatosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017384 MONDO:0020683 False acute generalized exanthematous pustulosis acute disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017385 MONDO:0020070 False malignant migrating partial seizures of infancy neonatal epilepsy syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017388 MONDO:0004995 False celiac trunk compression syndrome cardiovascular disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017389 MONDO:0009861 False tetrahydrobiopterin-responsive hyperphenylalaninemia/phenylketonuria phenylketonuria UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017391 MONDO:0020212 False Grayson-Wilbrandt corneal dystrophy superficial corneal dystrophy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017392 MONDO:0020213 False pre-descemet corneal dystrophy stromal corneal dystrophy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017393 MONDO:0015159 False blepharophimosis - intellectual disability syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017394 MONDO:0004868 False ketamine-induced biliary dilatation biliary tract disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017394 MONDO:0029000 False ketamine-induced biliary dilatation poisoning UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017395 MONDO:0017396 False fixed pigmented erythema toxic dermatosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017396 MONDO:0005093 False toxic dermatosis skin disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017398 MONDO:0003847 False 3MC syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0017398 MONDO:0015159 False 3MC syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017399 MONDO:0010857 False frontotemporal dementia, right temporal atrophy variant semantic dementia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017400 MONDO:0002254 False hypoplastic pancreas-intestinal atresia-hypoplastic gallbalder syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017400 MONDO:0003847 False hypoplastic pancreas-intestinal atresia-hypoplastic gallbalder syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017401 MONDO:0016342 False familial isolated arrhythmogenic ventricular dysplasia, left dominant form familial isolated arrhythmogenic right ventricular dysplasia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017402 MONDO:0016342 False familial isolated arrhythmogenic ventricular dysplasia, biventricular form familial isolated arrhythmogenic right ventricular dysplasia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017403 MONDO:0016342 False familial isolated arrhythmogenic ventricular dysplasia, right dominant form familial isolated arrhythmogenic right ventricular dysplasia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017404 MONDO:0010436 False distal Xq28 microduplication syndrome chromosome Xq28 duplication syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017405 MONDO:0016883 False 1p21.3 microdeletion syndrome partial deletion of the short arm of chromosome 1 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017406 MONDO:0015770 False hypogonadotropic hypogonadism-severe microcephaly-sensorineural hearing loss-dysmorphism syndrome congenital hypogonadotropic hypogonadism UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017406 MONDO:0021147 False hypogonadotropic hypogonadism-severe microcephaly-sensorineural hearing loss-dysmorphism syndrome disorder of development or morphogenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017407 MONDO:0014260 False deficiency in anterior pituitary function - variable immunodeficiency syndrome immunodeficiency, common variable, 10 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017407 MONDO:0018762 False deficiency in anterior pituitary function - variable immunodeficiency syndrome non-acquired combined pituitary hormone deficiency UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017408 MONDO:0005151 False rapid-onset childhood obesity-hypothalamic dysfunction-hypoventilation-autonomic dysregulation syndrome endocrine system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017409 MONDO:0002254 False fetal cytomegalovirus syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017409 MONDO:0005132 False fetal cytomegalovirus syndrome cytomegalovirus infection UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017409 MONDO:0016511 False fetal cytomegalovirus syndrome infectious embryofetopathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017410 MONDO:0017103 False porencephaly encephaloclastic disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017411 MONDO:0005265 False neonatal inflammatory skin and bowel disease inflammatory bowel disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0017411 MONDO:0019268 False neonatal inflammatory skin and bowel disease epidermal disease UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017411 MONDO:0019751 False neonatal inflammatory skin and bowel disease autoinflammatory syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017411 MONDO:0023603 False neonatal inflammatory skin and bowel disease hereditary disorder of connective tissue UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017411 MONDO:0100118 False neonatal inflammatory skin and bowel disease hereditary skin disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017413 MONDO:0002254 False Reunion island Larsen syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017413 MONDO:0017749 False Reunion island Larsen syndrome disorder of multiple glycosylation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017415 MONDO:0015225 False multiple pterygium syndrome arthrogryposis syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017416 MONDO:0017373 False postpoliomyelitis syndrome poliomyelitis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0017417 MONDO:0003847 False renal-hepatic-pancreatic dysplasia hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0017418 MONDO:0005020 False chronic intestinal failure intestinal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017419 MONDO:0018234 False non-syndromic amelia dysostosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017419 MONDO:0019713 False non-syndromic amelia non-syndromic limb reduction defect UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017424 MONDO:0021004 False non-syndromic brachydactyly brachydactyly UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017425 MONDO:0011348 False preaxial polydactyly of fingers non-syndromic polydactyly UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017426 MONDO:0011348 False postaxial polydactyly of fingers non-syndromic polydactyly UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017427 MONDO:0021147 False congenital deformities of limbs disorder of development or morphogenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017435 MONDO:0015225 False popliteal pterygium syndrome arthrogryposis syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017436 MONDO:0003847 False lethal congenital contracture syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0017436 MONDO:0015225 False lethal congenital contracture syndrome arthrogryposis syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017437 MONDO:0017419 False amelia of upper limb non-syndromic amelia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017438 MONDO:0017419 False amelia of lower limb non-syndromic amelia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017439 MONDO:0017419 False tetra-amelia non-syndromic amelia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017440 MONDO:0019713 False humeral agenesis/hypoplasia non-syndromic limb reduction defect UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017441 MONDO:0018230 False congenital absence of upper arm and forearm with hand present skeletal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017441 MONDO:0018234 False congenital absence of upper arm and forearm with hand present dysostosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017442 MONDO:0018230 False congenital absence of thigh and lower leg with foot present skeletal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017442 MONDO:0018234 False congenital absence of thigh and lower leg with foot present dysostosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017443 MONDO:0018230 False congenital absence of both forearm and hand skeletal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017443 MONDO:0018234 False congenital absence of both forearm and hand dysostosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017444 MONDO:0018230 False congenital absence of both lower leg and foot skeletal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017444 MONDO:0018234 False congenital absence of both lower leg and foot dysostosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017445 MONDO:0018230 False acheiria skeletal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017445 MONDO:0018234 False acheiria dysostosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017446 MONDO:0018230 False apodia skeletal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017446 MONDO:0018234 False apodia dysostosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017450 MONDO:0018234 False split foot dysostosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017452 MONDO:0017424 False non-syndromic brachydactyly of toes non-syndromic brachydactyly UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017453 MONDO:0016511 False fetal parvovirus syndrome infectious embryofetopathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017453 MONDO:0025371 False fetal parvovirus syndrome Parvoviridae infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017454 MONDO:0019054 False triphalangeal thumb-polysyndactyly syndrome congenital limb malformation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017455 MONDO:0018234 False hyperphalangy dysostosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017456 MONDO:0011348 False central polydactyly of fingers non-syndromic polydactyly UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017457 MONDO:0011348 False Preaxial polydactyly of toes non-syndromic polydactyly UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017460 MONDO:0019530 False syndactyly type 6 non-syndromic syndactyly UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017461 MONDO:0021147 False familial isolated clinodactyly of fingers disorder of development or morphogenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017462 MONDO:0015525 False congenital pseudoarthrosis of the tibia congenital pseudoarthrosis of the limbs UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017463 MONDO:0015525 False congenital pseudoarthrosis of the femur congenital pseudoarthrosis of the limbs UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017464 MONDO:0015525 False congenital pseudoarthrosis of the fibula congenital pseudoarthrosis of the limbs UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017465 MONDO:0015525 False congenital pseudoarthrosis of the radius congenital pseudoarthrosis of the limbs UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017466 MONDO:0015525 False congenital pseudoarthrosis of the ulna congenital pseudoarthrosis of the limbs UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017467 MONDO:0001411 False tibio-fibular synostosis synostosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017468 MONDO:0021147 False congenital shoulder dislocation disorder of development or morphogenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017469 MONDO:0021147 False congenital elbow dislocation disorder of development or morphogenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -28045,43 +26253,94 @@ MONDO:0017531 MONDO:0019673 False postaxial polydactyly type A, unilateral posta MONDO:0017532 MONDO:0019673 False postaxial polydactyly type A, bilateral postaxial polydactyly type A UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017533 MONDO:0019674 False postaxial polydactyly type B, unilateral postaxial polydactyly type B UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017534 MONDO:0019674 False postaxial polydactyly type B, bilateral postaxial polydactyly type B UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017571 MONDO:0003847 False Proteus-like syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017571 MONDO:0045024 False Proteus-like syndrome cancer or benign tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017543 MONDO:0008512 False zygodactyly type 2 syndactyly type 1 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017544 MONDO:0008512 False zygodactyly type 3 syndactyly type 1 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017545 MONDO:0008512 False zygodactyly type 4 syndactyly type 1 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017546 MONDO:0008652 False congenital vertical talus, unilateral congenital vertical talus UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017547 MONDO:0008652 False congenital vertical talus, bilateral congenital vertical talus UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017552 MONDO:0019782 False humero-ulnar synostosis, unilateral humero-ulnar synostosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017553 MONDO:0019782 False humero-ulnar synostosis, bilateral humero-ulnar synostosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017554 MONDO:0017985 False radio-ulnar synostosis, unilateral congenital radioulnar synostosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017555 MONDO:0017985 False radio-ulnar synostosis, bilateral congenital radioulnar synostosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017558 MONDO:0017469 False congenital elbow dislocation, unilateral congenital elbow dislocation UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017559 MONDO:0017469 False congenital elbow dislocation, bilateral congenital elbow dislocation UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017560 MONDO:0017470 False congenital genu recurvatum congenital knee dislocation UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017561 MONDO:0017470 False congenital genu flexum congenital knee dislocation UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017564 MONDO:0017474 False macrodactyly of fingers, unilateral macrodactyly of fingers UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017565 MONDO:0017474 False macrodactyly of fingers, bilateral macrodactyly of fingers UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017566 MONDO:0017475 False macrodactyly of toes, unilateral macrodactyly of toes UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017567 MONDO:0017475 False macrodactyly of toes, bilateral macrodactyly of toes UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017568 MONDO:0018234 False Prata-Liberal-Goncalves syndrome dysostosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017569 MONDO:0006025 False de Barsy syndrome autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0017569 MONDO:0019303 False de Barsy syndrome premature aging syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017570 MONDO:0006025 False leukocyte adhesion deficiency autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0017570 MONDO:0015978 False leukocyte adhesion deficiency functional neutrophil defect UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017571 MONDO:0002051 False Proteus-like syndrome integumentary system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017571 MONDO:0045024 False Proteus-like syndrome cell proliferation disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017572 MONDO:0025294 False tick-borne encephalitis tick-borne infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017573 MONDO:0002254 False 46,XX disorder of sex development-anorectal anomalies syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017573 MONDO:0017576 False 46,XX disorder of sex development-anorectal anomalies syndrome 46,XX disorder of sex development UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017574 MONDO:0002803 False chronic intestinal pseudoobstruction intestinal pseudo-obstruction UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017574 MONDO:0021189 False chronic intestinal pseudoobstruction intestinal motility disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017575 MONDO:0002254 False mitochondrial neurogastrointestinal encephalomyopathy syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017575 MONDO:0002320 False mitochondrial neurogastrointestinal encephalomyopathy congenital nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017575 MONDO:0009637 False mitochondrial neurogastrointestinal encephalomyopathy inborn mitochondrial myopathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017575 MONDO:0019238 False mitochondrial neurogastrointestinal encephalomyopathy inborn disorder of pyrimidine metabolism UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017575 MONDO:0020127 False mitochondrial neurogastrointestinal encephalomyopathy hereditary peripheral neuropathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017577 MONDO:0005071 False spontaneous periodic hypothermia nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017578 MONDO:0017758 False disorder of thiamine metabolism and transport disorder of vitamin and non-protein cofactor absorption and transport UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017579 MONDO:0002254 False Baraitser-Winter cerebrofrontofacial syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0017579 MONDO:0015159 False Baraitser-Winter cerebrofrontofacial syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017579 MONDO:0018838 False Baraitser-Winter cerebrofrontofacial syndrome lissencephaly spectrum disorders UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS +MONDO:0017580 MONDO:0015159 False 11p15.4 microduplication syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017580 MONDO:0016948 False 11p15.4 microduplication syndrome partial duplication of the short arm of chromosome 11 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017580 MONDO:0019716 False 11p15.4 microduplication syndrome overgrowth syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017582 MONDO:0002038 False pituitary adenocarcinoma head and neck carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0017582 MONDO:0002415 False pituitary adenocarcinoma bone carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0017582 MONDO:0004970 False pituitary adenocarcinoma adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0017583 MONDO:0002254 False mirror polydactyly-vertebral segmentation-limbs defects syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017584 MONDO:0005381 False Sagliker syndrome bone disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017585 MONDO:0016752 False painful orbital and systemic neurofibromas-marfanoid habitus syndrome benign peripheral nerve sheath tumor UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017586 MONDO:0017588 False onychocytic matricoma nail tumor UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017587 MONDO:0017588 False onychomatricoma nail tumor UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017588 MONDO:0002884 False nail tumor nail disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017588 MONDO:0005070 False nail tumor neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017589 MONDO:0002356 False follicular cholangitis and pancreatitis pancreas disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017589 MONDO:0004868 False follicular cholangitis and pancreatitis biliary tract disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017590 MONDO:0003090 False carcinoma of the ampulla of vater extrahepatic bile duct carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0017590 MONDO:0021335 False carcinoma of the ampulla of vater carcinoma of duodenum UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017591 MONDO:0002429 False combined pulmonary fibrosis-emphysema syndrome idiopathic interstitial pneumonia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017592 MONDO:0024313 False staphylococcal toxemia staphylococcal infection UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017593 MONDO:0005144 False juvenile amyotrophic lateral sclerosis familial amyotrophic lateral sclerosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017598 MONDO:0018897 False primary cutaneous anaplastic large cell lymphoma primary cutaneous CD30+ T-cell lymphoproliferative disease UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017599 MONDO:0017604 False splenic diffuse red pulp small B-cell lymphoma marginal zone lymphoma UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017600 MONDO:0018935 False hairy cell leukemia variant hairy cell leukemia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0017601 MONDO:0017343 False diffuse large B-cell lymphoma with chronic inflammation Epstein-Barr virus-associated malignant lymphoproliferative disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017601 MONDO:0018905 False diffuse large B-cell lymphoma with chronic inflammation diffuse large B-cell lymphoma UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017604 MONDO:0004699 False marginal zone lymphoma gastrointestinal lymphoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0017604 MONDO:0005966 False marginal zone lymphoma spleen cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0017607 MONDO:0018075 False caudal regression sequence neural tube defect UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0017609 MONDO:0005240 False renal tubular dysgenesis kidney disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017610 MONDO:0019276 False epidermolysis bullosa simplex inherited epidermolysis bullosa UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017611 MONDO:0002082 False pituitary tumor endocrine gland neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017611 MONDO:0002720 False pituitary tumor sella turcica neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017611 MONDO:0006799 False pituitary tumor hypothalamic neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017612 MONDO:0019276 False junctional epidermolysis bullosa inherited epidermolysis bullosa UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017614 MONDO:0002320 False X-linked intellectual disability-hypogonadism-ichthyosis-obesity-short stature syndrome congenital nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017614 MONDO:0015159 False X-linked intellectual disability-hypogonadism-ichthyosis-obesity-short stature syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017614 MONDO:0020119 False X-linked intellectual disability-hypogonadism-ichthyosis-obesity-short stature syndrome X-linked syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017615 MONDO:0000413 False benign familial infantile epilepsy infancy electroclinical syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0017615 MONDO:0015642 False benign familial infantile epilepsy benign partial infantile seizures UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017615 MONDO:0015653 False benign familial infantile epilepsy monogenic epilepsy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017617 MONDO:0017769 False acquired adult-onset immunodeficiency acquired immunodeficiency UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017623 MONDO:0019755 False PTEN hamartoma tumor syndrome developmental defect during embryogenesis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017624 MONDO:0018100 False familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis familial primary hypomagnesemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017625 MONDO:0018100 False familial primary hypomagnesemia with hypocalcuria familial primary hypomagnesemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017626 MONDO:0018100 False familial primary hypomagnesemia with normocalcuria familial primary hypomagnesemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017627 MONDO:0002254 False congenital hereditary facial paralysis-variable hearing loss syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017627 MONDO:0023369 False congenital hereditary facial paralysis-variable hearing loss syndrome disorder of facial skeleton UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017628 MONDO:0023369 False myospherulosis disorder of facial skeleton UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017630 MONDO:0017140 False X-linked complicated spastic paraplegia type 1 L1 syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017630 MONDO:0020605 False X-linked complicated spastic paraplegia type 1 X-linked recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017634 MONDO:0006651 False non-infectious anterior uveitis anterior uveitis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017636 MONDO:0021095 False hemiparkinsonism-hemiatrophy syndrome parkinsonian disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017638 MONDO:0029000 False manganese poisoning poisoning UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017639 MONDO:0021095 False carbon monoxide-induced parkinsonism parkinsonian disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -28089,58 +26348,148 @@ MONDO:0017639 MONDO:0800373 False carbon monoxide-induced parkinsonism carbon mo MONDO:0017640 MONDO:0021095 False cyanide-induced parkinsonism parkinsonian disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017640 MONDO:0029000 False cyanide-induced parkinsonism poisoning UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017642 MONDO:0002254 False intellectual disability-microcephaly-phalangeal-facial abnormalities syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017648 MONDO:0005071 False Sydenham chorea nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017649 MONDO:0003441 False hemidystonia-hemiatrophy syndrome dystonic disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017658 MONDO:0005395 False hyperekplexia movement disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017659 MONDO:0017658 False sporadic hyperekplexia hyperekplexia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017666 MONDO:0019272 False diffuse palmoplantar keratoderma hereditary palmoplantar keratoderma UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017668 MONDO:0015159 False intellectual disability-short stature-hypertelorism syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017672 MONDO:0019272 False focal palmoplantar keratoderma hereditary palmoplantar keratoderma UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017675 MONDO:0019272 False punctate palmoplantar keratoderma hereditary palmoplantar keratoderma UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017677 MONDO:0017675 False focal acral hyperkeratosis punctate palmoplantar keratoderma UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017681 MONDO:0019270 False erythrokeratoderma variabilis progressiva erythrokeratoderma UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017682 MONDO:0015159 False intellectual disability-polydactyly-uncombable hair syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017683 MONDO:0018964 False methylcobalamin deficiency type cblDv1 homocystinuria without methylmalonic aciduria UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017683 MONDO:0100463 False methylcobalamin deficiency type cblDv1 methylmalonic aciduria and/or homocystinuria, cblD type UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017684 MONDO:0019189 False disorder of beta and omega amino acid metabolism inborn disorder of amino acid and other organic acid metabolism UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017685 MONDO:0017214 False vitamin B12-responsive methylmalonic acidemia, type cblDv2 vitamin B12-responsive methylmalonic acidemia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017685 MONDO:0100463 False vitamin B12-responsive methylmalonic acidemia, type cblDv2 methylmalonic aciduria and/or homocystinuria, cblD type UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017686 MONDO:0005071 False inborn aminoacylase deficiency nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017686 MONDO:0019052 False inborn aminoacylase deficiency inborn errors of metabolism UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017687 MONDO:0019216 False disorder of neutral amino acid transport inborn disorder of amino acid transport UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017688 MONDO:0016789 False disorder of glycolysis pyruvate metabolism disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017688 MONDO:0019214 False disorder of glycolysis inborn carbohydrate metabolic disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017688 MONDO:0019254 False disorder of glycolysis inborn disorder of purine or pyrimidine metabolism UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017689 MONDO:0019214 False disorder of fructose metabolism inborn carbohydrate metabolic disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017690 MONDO:0019214 False disorder of galactose metabolism inborn carbohydrate metabolic disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017691 MONDO:0009257 False erythrocyte galactose epimerase deficiency galactose epimerase deficiency UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017691 MONDO:0800152 False erythrocyte galactose epimerase deficiency disorder of galactose and fructose metabolism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017692 MONDO:0009257 False generalized galactose epimerase deficiency galactose epimerase deficiency UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017692 MONDO:0800152 False generalized galactose epimerase deficiency disorder of galactose and fructose metabolism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017694 MONDO:0009290 False glycogen storage disease due to acid maltase deficiency, infantile onset glycogen storage disease II UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017695 MONDO:0009292 False glycogen storage disease due to glycogen branching enzyme deficiency, progressive hepatic form glycogen storage disease due to glycogen branching enzyme deficiency UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017696 MONDO:0009292 False glycogen storage disease due to glycogen branching enzyme deficiency, non progressive hepatic form glycogen storage disease due to glycogen branching enzyme deficiency UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017697 MONDO:0009292 False glycogen storage disease due to glycogen branching enzyme deficiency, fatal perinatal neuromuscular form glycogen storage disease due to glycogen branching enzyme deficiency UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017698 MONDO:0009292 False glycogen storage disease due to glycogen branching enzyme deficiency, congenital neuromuscular form glycogen storage disease due to glycogen branching enzyme deficiency UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017699 MONDO:0009292 False glycogen storage disease due to glycogen branching enzyme deficiency, childhood combined hepatic and myopathic form glycogen storage disease due to glycogen branching enzyme deficiency UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017700 MONDO:0009292 False glycogen storage disease due to glycogen branching enzyme deficiency, childhood neuromuscular form glycogen storage disease due to glycogen branching enzyme deficiency UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017701 MONDO:0009292 False glycogen storage disease due to glycogen branching enzyme deficiency, adult neuromuscular form glycogen storage disease due to glycogen branching enzyme deficiency UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017703 MONDO:0100257 False disorder of glyoxylate metabolism peroxisomal single enzyme/protein defect UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017704 MONDO:0005384 False familial partial epilepsy focal epilepsy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017704 MONDO:0015653 False familial partial epilepsy monogenic epilepsy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017704 MONDO:0020072 False familial partial epilepsy childhood-onset epilepsy syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017704 MONDO:0020073 False familial partial epilepsy adolescent-onset epilepsy syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017705 MONDO:0020295 False congenital pulmonary venous return anomaly congenital pulmonary veins anomaly UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017706 MONDO:0019214 False disorder of carbohydrate transmembrane transport and absorption inborn carbohydrate metabolic disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017708 MONDO:0015905 False mevalonate kinase deficiency syndromic dyslipidemia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017708 MONDO:0017953 False mevalonate kinase deficiency hereditary periodic fever syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017708 MONDO:0019240 False mevalonate kinase deficiency sterol biosynthesis disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017711 MONDO:0013700 False pancreatic colipase deficiency pancreatic triacylglycerol lipase deficiency UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017712 MONDO:0013700 False combined pancreatic lipase-colipase deficiency pancreatic triacylglycerol lipase deficiency UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017713 MONDO:0019223 False disorder of fatty acid oxidation and ketogenesis disorder of fatty acid and ketone body metabolism UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017713 MONDO:0037858 False disorder of fatty acid oxidation and ketogenesis inherited fatty acid metabolism disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017713 MONDO:0045022 False disorder of fatty acid oxidation and ketogenesis disorder of organic acid metabolism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017714 MONDO:0017713 False acyl-CoA dehydrogenase deficiency disorder of fatty acid oxidation and ketogenesis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017715 MONDO:0017713 False 3-hydroxyacyl-CoA dehydrogenase deficiency disorder of fatty acid oxidation and ketogenesis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017716 MONDO:0019223 False disorder of carnitine cycle and carnitine transport disorder of fatty acid and ketone body metabolism UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017719 MONDO:0019255 False gangliosidosis sphingolipidosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0017720 MONDO:0017719 False GM2 gangliosidosis gangliosidosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0017720 MONDO:0024237 False GM2 gangliosidosis inherited neurodegenerative disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017721 MONDO:0010006 False Sandhoff disease, infantile form Sandhoff disease UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017722 MONDO:0010006 False Sandhoff disease, juvenile form Sandhoff disease UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017723 MONDO:0010006 False Sandhoff disease, adult form Sandhoff disease UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017724 MONDO:0010100 False Tay-Sachs disease, b variant, infantile form Tay-Sachs disease UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017725 MONDO:0010100 False Tay-Sachs disease, b variant, juvenile form Tay-Sachs disease UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017726 MONDO:0010100 False Tay-Sachs disease, B variant, adult form Tay-Sachs disease UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017727 MONDO:0020292 False fixed subaortic stenosis congenital anomaly of the great arteries UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017728 MONDO:0010100 False Tay-Sachs disease, B1 variant Tay-Sachs disease UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017729 MONDO:0009591 False metachromatic leukodystrophy, late infantile form metachromatic leukodystrophy, juvenile form UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017730 MONDO:0009591 False metachromatic leukodystrophy, adult form metachromatic leukodystrophy, juvenile form UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017731 MONDO:0002561 False glycoproteinosis lysosomal storage disease UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017732 MONDO:0009561 False alpha-mannosidosis, infantile form alpha-mannosidosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017733 MONDO:0009561 False alpha-mannosidosis, adult form alpha-mannosidosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017734 MONDO:0019251 False sialidosis oligosaccharidosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017735 MONDO:0042981 False congenital aortic valve stenosis aortic valve stenosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017736 MONDO:0002561 False disorder of sialic acid metabolism lysosomal storage disease UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017737 MONDO:0017706 False intermediate severe Salla disease disorder of carbohydrate transmembrane transport and absorption UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017737 MONDO:0019366 False intermediate severe Salla disease free sialic acid storage disease UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017738 MONDO:0002561 False lysosomal glycogen storage disease lysosomal storage disease UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017739 MONDO:0019052 False disorder of lysosomal-related organelles inborn errors of metabolism UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017740 MONDO:0015286 False disorder of protein N-glycosylation congenital disorder of glycosylation UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017740 MONDO:0045010 False disorder of protein N-glycosylation glycoprotein metabolism disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017741 MONDO:0015286 False disorder of protein O-glycosylation congenital disorder of glycosylation UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017741 MONDO:0045010 False disorder of protein O-glycosylation glycoprotein metabolism disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017746 MONDO:0700092 False atypical Rett syndrome neurodevelopmental disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017747 MONDO:0017741 False disorder of fucoglycosan synthesis disorder of protein O-glycosylation UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017748 MONDO:0002525 False inborn disorder of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation inherited lipid metabolism disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017748 MONDO:0015286 False inborn disorder of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation congenital disorder of glycosylation UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017748 MONDO:0024321 False inborn disorder of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation disorder of GPI anchor biosynthesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017749 MONDO:0015286 False disorder of multiple glycosylation congenital disorder of glycosylation UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017750 MONDO:0017749 False defect in conserved oligomeric Golgi complex disorder of multiple glycosylation UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017752 MONDO:0017749 False defect in V-ATPase disorder of multiple glycosylation UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017754 MONDO:0019052 False inborn disorder of porphyrin metabolism inborn errors of metabolism UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017754 MONDO:0037821 False inborn disorder of porphyrin metabolism porphyrin metabolism disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017755 MONDO:0017754 False inborn disorder of bilirubin metabolism inborn disorder of porphyrin metabolism UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017755 MONDO:0024431 False inborn disorder of bilirubin metabolism bilirubin metabolism disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017757 MONDO:0019052 False disorder of metabolite absorption and transport inborn errors of metabolism UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017758 MONDO:0017757 False disorder of vitamin and non-protein cofactor absorption and transport disorder of metabolite absorption and transport UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017759 MONDO:0019219 False disorder of catecholamine synthesis inborn disorder of neurotransmitter metabolism and transport UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017761 MONDO:0017757 False disorder of mineral absorption and transport disorder of metabolite absorption and transport UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017762 MONDO:0017761 False disorder of copper metabolism disorder of mineral absorption and transport UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017763 MONDO:0017761 False disorder of iron metabolism and transport disorder of mineral absorption and transport UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017764 MONDO:0017761 False disorder of zinc metabolism disorder of mineral absorption and transport UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017765 MONDO:0017761 False disorder of magnesium transport disorder of mineral absorption and transport UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017766 MONDO:0017761 False disorder of manganese transport disorder of mineral absorption and transport UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017767 MONDO:0005554 False rheumatic fever rheumatic disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0017767 MONDO:0021673 False rheumatic fever post-bacterial disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017768 MONDO:0100036 False reflex epilepsy variable age onset epilepsy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0017769 MONDO:0005046 False acquired immunodeficiency immune system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017770 MONDO:0015160 False Robinow-like syndrome multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017771 MONDO:0015830 False Mayer-Rokitansky-Kuster-Hauser syndrome partial bilateral aplasia of the mullerian ducts UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017772 MONDO:0005093 False oral erosive lichen skin disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017773 MONDO:0005066 False hypoalphalipoproteinemia metabolic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017774 MONDO:0001822 False hypobetalipoproteinemia hypolipoproteinemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0017775 MONDO:0000314 False melioidosis primary bacterial infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0017775 MONDO:0043953 False melioidosis burkholderia infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017776 MONDO:0000316 False nocardiosis opportunistic bacterial infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0017778 MONDO:0005328 False lamellar ichthyosis eye disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017778 MONDO:0100118 False lamellar ichthyosis hereditary skin disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017779 MONDO:0019251 False alpha-N-acetylgalactosaminidase deficiency oligosaccharidosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017780 MONDO:0015159 False 20p13 microdeletion syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017780 MONDO:0016898 False 20p13 microdeletion syndrome partial monosomy of the short arm of chromosome 20 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017781 MONDO:0022174 False 12p12.1 microdeletion syndrome chromosome 12p deletion UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017782 MONDO:0002254 False developmental and speech delay due to SOX5 deficiency syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017783 MONDO:0002356 False congenital pancreatic cyst pancreas disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017784 MONDO:0004950 False Epstein-Barr virus-associated gastric carcinoma gastric carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017784 MONDO:0017344 False Epstein-Barr virus-associated gastric carcinoma Epstein-Barr virus-associated carcinoma UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017785 MONDO:0005073 False PENS syndrome melanocytic nevus UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017785 MONDO:0100118 False PENS syndrome hereditary skin disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017786 MONDO:0016953 False 2q23.1 microduplication syndrome partial duplication of the long arm of chromosome 2 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017787 MONDO:0005046 False erythroderma desquamativum immune system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017788 MONDO:0015161 False contractures - webbed neck - micrognathia - hypoplastic nipples syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017789 MONDO:0005328 False idiopathic linear interstitial keratitis eye disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017789 MONDO:0700007 False idiopathic linear interstitial keratitis idiopathic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017790 MONDO:0000147 False gastric adenocarcinoma and proximal polyposis of the stomach polyposis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017790 MONDO:0018502 False gastric adenocarcinoma and proximal polyposis of the stomach hereditary gastric cancer UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017791 MONDO:0019019 False high bone mass osteogenesis imperfecta osteogenesis imperfecta UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017792 MONDO:0000508 False 7p22.1 microduplication syndrome syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017792 MONDO:0002320 False 7p22.1 microduplication syndrome congenital nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017792 MONDO:0015159 False 7p22.1 microduplication syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017792 MONDO:0016944 False 7p22.1 microduplication syndrome partial duplication of the short arm of chromosome 7 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017793 MONDO:0019755 False marfanoid habitus-inguinal hernia-advanced bone age syndrome developmental defect during embryogenesis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017794 MONDO:0017010 False Xq12-q13.3 duplication syndrome partial duplication of the long arm of chromosome X UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017795 MONDO:0000636 False ameloblastoma musculoskeletal system benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0017795 MONDO:0036976 False ameloblastoma benign epithelial neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017798 MONDO:0002254 False Spigelian hernia-cryptorchidism syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017799 MONDO:0000646 False Meigs syndrome ovarian benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017799 MONDO:0021058 False Meigs syndrome neoplastic syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017800 MONDO:0000646 False pseudo-Meigs syndrome ovarian benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017801 MONDO:0000646 False atypical Meigs syndrome ovarian benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017802 MONDO:0024387 False ovarian fibrothecoma benign ovarian sex cord-stromal tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -28148,34 +26497,71 @@ MONDO:0017802 MONDO:0700036 False ovarian fibrothecoma fibrothecoma UNSUPPORTED- MONDO:0017803 MONDO:0005559 False primary progressive apraxia of speech neurodegenerative disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017804 MONDO:0002254 False autosomal recessive leukoencephalopathy-ischemic stroke-retinitis pigmentosa syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017804 MONDO:0003847 False autosomal recessive leukoencephalopathy-ischemic stroke-retinitis pigmentosa syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017805 MONDO:0015159 False intellectual disability-hypotonia-brachycephaly-pyloric stenosis-cryptorchidism syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017805 MONDO:0100239 False intellectual disability-hypotonia-brachycephaly-pyloric stenosis-cryptorchidism syndrome inherited hypertrophic pyloric stenosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017807 MONDO:0021058 False growing teratoma syndrome neoplastic syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017806 MONDO:0015159 False 15q overgrowth syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017806 MONDO:0016965 False 15q overgrowth syndrome partial duplication of the long arm of chromosome 15 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017806 MONDO:0019716 False 15q overgrowth syndrome overgrowth syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017808 MONDO:0005071 False duplication of the pituitary gland nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017808 MONDO:0005151 False duplication of the pituitary gland endocrine system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017808 MONDO:0021147 False duplication of the pituitary gland disorder of development or morphogenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017809 MONDO:0011706 False parkinsonism due to ATP13A2 deficiency Kufor-Rakeb syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017809 MONDO:0019262 False parkinsonism due to ATP13A2 deficiency juvenile neuronal ceroid lipofuscinosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017810 MONDO:0018590 False variant ABeta2M amyloidosis ABeta2M amyloidosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0017810 MONDO:0018634 False variant ABeta2M amyloidosis hereditary amyloidosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017811 MONDO:0002254 False severe neonatal hypotonia-seizures-encephalopathy syndrome due to 5q31.3 microdeletion syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017811 MONDO:0016904 False severe neonatal hypotonia-seizures-encephalopathy syndrome due to 5q31.3 microdeletion partial deletion of the long arm of chromosome 5 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017812 MONDO:0019716 False segmental progressive overgrowth syndrome with fibroadipose hyperplasia overgrowth syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017813 MONDO:0003847 False van Maldergem syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0017813 MONDO:0015159 False van Maldergem syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017815 MONDO:0017410 False acquired porencephaly porencephaly UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017816 MONDO:0019438 False primary systemic amyloidosis AL amyloidosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017817 MONDO:0019438 False primary localized amyloidosis AL amyloidosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017818 MONDO:0005385 False lethal arteriopathy syndrome due to fibulin-4 deficiency vascular disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017819 MONDO:0007436 False atypical dentin dysplasia due to SMOC2 deficiency dentin dysplasia type I UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017822 MONDO:0003429 False mixed functioning pituitary adenoma functioning pituitary gland adenoma UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017823 MONDO:0017822 False somatomammotropinoma mixed functioning pituitary adenoma UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017824 MONDO:0006373 False familial isolated pituitary adenoma pituitary gland adenoma UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017824 MONDO:0023603 False familial isolated pituitary adenoma hereditary disorder of connective tissue UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017825 MONDO:0019613 False silent pituitary adenoma non-functioning pituitary adenoma UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017826 MONDO:0019613 False null pituitary adenoma non-functioning pituitary adenoma UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017827 MONDO:0002217 False malignant peripheral nerve sheath tumor central nervous system sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0017827 MONDO:0016749 False malignant peripheral nerve sheath tumor tumor of cranial and spinal nerves UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017827 MONDO:0100342 False malignant peripheral nerve sheath tumor malignant glioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0017829 MONDO:0000426 False autosomal dominant proximal renal tubular acidosis autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017829 MONDO:0008369 False autosomal dominant proximal renal tubular acidosis proximal renal tubular acidosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017829 MONDO:0015962 False autosomal dominant proximal renal tubular acidosis inherited renal tubular disease UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017829 MONDO:0019052 False autosomal dominant proximal renal tubular acidosis inborn errors of metabolism UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017830 MONDO:0010079 False severe Canavan disease Canavan disease UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017831 MONDO:0010079 False mild Canavan disease Canavan disease UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017832 MONDO:0020590 False mycobacterium xenopi infection mycobacterial infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017833 MONDO:0015691 False primary hypereosinophilic syndrome hypereosinophilic syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017834 MONDO:0015691 False secondary hypereosinophilic syndrome hypereosinophilic syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017835 MONDO:0017834 False lymphocytic hypereosinophilic syndrome secondary hypereosinophilic syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017836 MONDO:0019270 False erythrokeratoderma en cocardes erythrokeratoderma UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017837 MONDO:0002242 False multiple sclerosis-ichthyosis-factor VIII deficiency syndrome coagulation protein disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017837 MONDO:0002243 False multiple sclerosis-ichthyosis-factor VIII deficiency syndrome hemorrhagic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017837 MONDO:0002254 False multiple sclerosis-ichthyosis-factor VIII deficiency syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017838 MONDO:0002185 False sclerosteosis hyperostosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0017838 MONDO:0003847 False sclerosteosis hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0017839 MONDO:0008728 False classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, salt wasting form classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017840 MONDO:0008728 False classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, simple virilizing form classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017842 MONDO:0005308 False Senior-Loken syndrome ciliopathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0017842 MONDO:0006025 False Senior-Loken syndrome autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0017842 MONDO:0015962 False Senior-Loken syndrome inherited renal tubular disease UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017843 MONDO:0005087 False congenital pulmonary sequestration respiratory system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017844 MONDO:0000607 False Sezary syndrome primary cutaneous T-cell non-Hodgkin lymphoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0017845 MONDO:0100309 False spastic ataxia hereditary ataxia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0017846 MONDO:0000426 False autosomal dominant spastic ataxia autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017846 MONDO:0017845 False autosomal dominant spastic ataxia spastic ataxia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017847 MONDO:0006025 False autosomal recessive spastic ataxia autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017847 MONDO:0017845 False autosomal recessive spastic ataxia spastic ataxia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017849 MONDO:0005087 False Siegler-Brewer-Carey syndrome respiratory system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017850 MONDO:0010831 False sirenomelia familial caudal dysgenesis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017851 MONDO:0017666 False erythrokeratodermia variabilis diffuse palmoplantar keratoderma UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017852 MONDO:0020071 False infantile spasms-broad thumbs syndrome infantile epilepsy syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017853 MONDO:0000771 False hypersensitivity pneumonitis allergic respiratory disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0017853 MONDO:0043905 False hypersensitivity pneumonitis pneumonitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017853 MONDO:0015925 False hypersensitivity pneumonitis interstitial lung disease UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0017855 MONDO:0015974 False T-B- severe combined immunodeficiency severe combined immunodeficiency UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017856 MONDO:0002254 False X-linked spasticity-intellectual disability-epilepsy syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017857 MONDO:0002254 False spina bifida-hypospadias syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017859 MONDO:0029000 False colchicine poisoning poisoning UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -28184,58 +26570,116 @@ MONDO:0017861 MONDO:0029000 False ethylene glycol poisoning poisoning UNSUPPORTE MONDO:0017862 MONDO:0029000 False paraquat poisoning poisoning UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017863 MONDO:0800388 False digitalis poisoning cardiac glycoside intoxication UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017864 MONDO:0020292 False congenital pulmonary veins atresia or stenosis congenital anomaly of the great arteries UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017865 MONDO:0020292 False congenital pulmonary valve stenosis congenital anomaly of the great arteries UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017866 MONDO:0017865 False subpulmonary stenosis congenital pulmonary valve stenosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017867 MONDO:0013415 False distal 17p13.1 microdeletion syndrome chromosome 17p13.1 deletion syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017867 MONDO:0015159 False distal 17p13.1 microdeletion syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017868 MONDO:0003847 False diencephalic-mesencephalic junction dysplasia hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017868 MONDO:0021147 False diencephalic-mesencephalic junction dysplasia disorder of development or morphogenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017869 MONDO:0005328 False chondroectodermal dysplasia with night blindness eye disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017869 MONDO:0018230 False chondroectodermal dysplasia with night blindness skeletal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017869 MONDO:0019287 False chondroectodermal dysplasia with night blindness ectodermal dysplasia syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017870 MONDO:0017865 False supravalvular pulmonary stenosis congenital pulmonary valve stenosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017871 MONDO:0019801 False bilateral massive adrenal hemorrhage acute adrenal insufficiency UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017872 MONDO:0018087 False Lujo hemorrhagic fever viral hemorrhagic fever UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017874 MONDO:0005651 False Argentine hemorrhagic fever arenavirus hemorrhagic fever UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017874 MONDO:0100120 False Argentine hemorrhagic fever vector-borne disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017875 MONDO:0018087 False Bolivian hemorrhagic fever viral hemorrhagic fever UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017875 MONDO:0100120 False Bolivian hemorrhagic fever vector-borne disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017876 MONDO:0018087 False Venezuelan hemorrhagic fever viral hemorrhagic fever UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017876 MONDO:0100120 False Venezuelan hemorrhagic fever vector-borne disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017879 MONDO:0002254 False hantavirus pulmonary syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0017879 MONDO:0005780 False hantavirus pulmonary syndrome hantavirus infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017877 MONDO:0018087 False Brazilian hemorrhagic fever viral hemorrhagic fever UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017878 MONDO:0018087 False Chapare hemorrhagic fever viral hemorrhagic fever UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017879 MONDO:0005275 False hantavirus pulmonary syndrome lung disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0017879 MONDO:0018087 False hantavirus pulmonary syndrome viral hemorrhagic fever UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017879 MONDO:0024352 False hantavirus pulmonary syndrome viral respiratory tract infection UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017879 MONDO:0100120 False hantavirus pulmonary syndrome vector-borne disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017880 MONDO:0100120 False Rift valley fever vector-borne disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017881 MONDO:0005763 False Kyasanur forest disease Flaviviridae infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017881 MONDO:0018087 False Kyasanur forest disease viral hemorrhagic fever UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017882 MONDO:0005763 False Omsk hemorrhagic fever Flaviviridae infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017882 MONDO:0018087 False Omsk hemorrhagic fever viral hemorrhagic fever UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017882 MONDO:0025294 False Omsk hemorrhagic fever tick-borne infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017886 MONDO:0005086 False MIT family translocation renal cell carcinoma renal cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017892 MONDO:0015168 False autosomal recessive myogenic arthrogryposis multiplex congenita arthrogryposis multiplex congenita UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017892 MONDO:0019950 False autosomal recessive myogenic arthrogryposis multiplex congenita congenital muscular dystrophy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017893 MONDO:0018874 False inherited acute myeloid leukemia acute myeloid leukemia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017893 MONDO:0023603 False inherited acute myeloid leukemia hereditary disorder of connective tissue UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017895 MONDO:0017896 False familial papillary or follicular thyroid carcinoma familial nonmedullary thyroid carcinoma UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017896 MONDO:0003847 False familial nonmedullary thyroid carcinoma hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017896 MONDO:0015075 False familial nonmedullary thyroid carcinoma thyroid gland carcinoma UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017900 MONDO:0019146 False autosomal recessive Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR2 deficiency inherited susceptibility to mycobacterial diseases UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017901 MONDO:0015979 False autosomal recessive Mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency hereditary predisposition to infections UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017902 MONDO:0015979 False autosomal recessive Mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR2 deficiency hereditary predisposition to infections UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017903 MONDO:0019146 False autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR2 deficiency inherited susceptibility to mycobacterial diseases UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017904 MONDO:0005066 False steroid dehydrogenase deficiency-dental anomalies syndrome metabolic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017904 MONDO:0021147 False steroid dehydrogenase deficiency-dental anomalies syndrome disorder of development or morphogenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017905 MONDO:0019146 False X-linked Mendelian susceptibility to mycobacterial diseases inherited susceptibility to mycobacterial diseases UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017906 MONDO:0015301 False amyloidosis cutis dyschromia primary cutaneous amyloidosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0017907 MONDO:0003454 False primary lymphoma of the conjunctiva conjunctival cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017907 MONDO:0004034 False primary lymphoma of the conjunctiva eye lymphoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017907 MONDO:0017207 False primary lymphoma of the conjunctiva primary organ-specific lymphoma UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017909 MONDO:0024626 False inherited glutathione synthetase deficiency defective phagocytic cell engulfment UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017909 MONDO:0040566 False inherited glutathione synthetase deficiency inherited glutathione metabolism disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017910 MONDO:0020102 False dehydrated hereditary stomatocytosis hereditary stomatocytosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017913 MONDO:0019064 False pure or complex hereditary spastic paraplegia hereditary spastic paraplegia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017917 MONDO:0015150 False maternally-inherited spastic paraplegia complex hereditary spastic paraplegia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017918 MONDO:0002254 False white matter hypoplasia-corpus callosum agenesis-intellectual disability syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017919 MONDO:0005240 False exstrophy-epispadias complex kidney disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0017919 MONDO:0019356 False exstrophy-epispadias complex urogenital tract malformation UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017920 MONDO:0002254 False deafness-genital anomalies-metacarpal and metatarsal synostosis syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017920 MONDO:0015159 False deafness-genital anomalies-metacarpal and metatarsal synostosis syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017921 MONDO:0002254 False hearing loss-familial salivary gland insensitivity to aldosterone syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017923 MONDO:0001411 False multiple synostoses syndrome synostosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0017923 MONDO:0002254 False multiple synostoses syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0017923 MONDO:0003847 False multiple synostoses syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0017923 MONDO:0019054 False multiple synostoses syndrome congenital limb malformation UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017924 MONDO:0002254 False central nervous system calcification-deafness-tubular acidosis-anemia syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017925 MONDO:0003778 False T-cell immunodeficiency with epidermodysplasia verruciformis inborn error of immunity UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017926 MONDO:0017190 False multiple paragangliomas associated with polycythemia sporadic pheochromocytoma/secreting paraganglioma UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017927 MONDO:0019698 False severe lateral tibial bowing with short stature bent bone dysplasia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017928 MONDO:0000508 False 9p13 microdeletion syndrome syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017928 MONDO:0008013 False 9p13 microdeletion syndrome chromosome 9p deletion syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017929 MONDO:0002320 False congenital achiasma congenital nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017929 MONDO:0021147 False congenital achiasma disorder of development or morphogenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017930 MONDO:0005381 False mixed sclerosing bone dystrophy with extra-skeletal manifestations bone disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017931 MONDO:0016112 False hereditary inclusion body myopathy type 4 hereditary inclusion-body myopathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017932 MONDO:0015159 False muscular hypertrophy-hepatomegaly-polyhydramnios syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017933 MONDO:0016387 False hypertrophic cardiomyopathy and renal tubular disease due to mitochondrial DNA mutation mitochondrial oxidative phosphorylation disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017934 MONDO:0015159 False aphonia-deafness-retinal dystrophy-bifid halluces-intellectual disability syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017935 MONDO:0015624 False hyperinsulinism due to HNF1A deficiency diazoxide-sensitive diffuse hyperinsulinism UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017936 MONDO:0019952 False benign Samaritan congenital myopathy congenital myopathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017937 MONDO:0019548 False autosomal dominant intermediate Charcot-Marie-Tooth disease with neuropathic pain autosomal dominant intermediate Charcot-Marie-Tooth disease UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017939 MONDO:0018948 False classic multiminicore myopathy multiminicore myopathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017939 MONDO:0100493 False classic multiminicore myopathy autosomal recessive titinopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017940 MONDO:0018993 False autosomal dominant Charcot-Marie-Tooth disease type 2 due to KIF5A mutation Charcot-Marie-Tooth disease type 2 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017941 MONDO:0005643 False chikungunya Alphavirus infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017941 MONDO:0018093 False chikungunya arbovirus fever UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017941 MONDO:0100120 False chikungunya vector-borne disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017942 MONDO:0020067 False Hendra virus infection infectious encephalitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017943 MONDO:0007179 False autoerythrocyte sensitization syndrome autoimmune disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017944 MONDO:0000827 False invasive non-typhoidal salmonellosis salmonellosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017945 MONDO:0011583 False ABetaL34V amyloidosis cerebral amyloid angiopathy, APP-related UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017946 MONDO:0011583 False ABeta amyloidosis, Iowa type cerebral amyloid angiopathy, APP-related UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017947 MONDO:0011583 False ABeta amyloidosis, Italian type cerebral amyloid angiopathy, APP-related UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017948 MONDO:0011583 False ABetaA21G amyloidosis cerebral amyloid angiopathy, APP-related UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017949 MONDO:0011583 False ABeta amyloidosis, Arctic type cerebral amyloid angiopathy, APP-related UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017951 MONDO:0019287 False trichorhinophalangeal syndrome ectodermal dysplasia syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0017951 MONDO:0019695 False trichorhinophalangeal syndrome acromelic dysplasia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017953 MONDO:0015137 False hereditary periodic fever syndrome periodic fever syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017953 MONDO:0023603 False hereditary periodic fever syndrome hereditary disorder of connective tissue UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017958 MONDO:0019751 False magic syndrome autoinflammatory syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017967 MONDO:0020040 False testicular agenesis 46,XY disorder of sex development UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017968 MONDO:0020040 False 46,XY ovotesticular disorder of sex development 46,XY disorder of sex development UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017972 MONDO:0008725 False classic congenital lipoid adrenal hyperplasia due to STAR deficency congenital lipoid adrenal hyperplasia due to STAR deficency UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017973 MONDO:0008725 False non-classic congenital lipoid adrenal hyperplasia due to STAR deficency congenital lipoid adrenal hyperplasia due to STAR deficency UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017975 MONDO:0002145 False sex chromosome disorder of sex development disorder of sexual differentiation UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017979 MONDO:0002459 False autoimmune lymphoproliferative syndrome type IV hypersensitivity disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0017979 MONDO:0007179 False autoimmune lymphoproliferative syndrome autoimmune disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0017979 MONDO:0021058 False autoimmune lymphoproliferative syndrome neoplastic syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017979 MONDO:0016537 False autoimmune lymphoproliferative syndrome lymphoproliferative syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0017980 MONDO:0002254 False syngnathia multiple anomalies syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017980 MONDO:0003847 False syngnathia multiple anomalies hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017980 MONDO:0018234 False syngnathia multiple anomalies dysostosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017981 MONDO:0003847 False syngnathia-cleft palate syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017983 MONDO:0001411 False humero-radio-ulnar synostosis synostosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017983 MONDO:0003847 False humero-radio-ulnar synostosis hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -28243,101 +26687,180 @@ MONDO:0017985 MONDO:0001411 False congenital radioulnar synostosis synostosis UN MONDO:0017986 MONDO:0002525 False disorder of plasmalogens biosynthesis inherited lipid metabolism disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017986 MONDO:0100257 False disorder of plasmalogens biosynthesis peroxisomal single enzyme/protein defect UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017988 MONDO:0007263 False multifocal atrial tachycardia cardiac rhythm disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017989 MONDO:0007263 False His bundle tachycardia cardiac rhythm disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017990 MONDO:0000992 False catecholaminergic polymorphic ventricular tachycardia heart conduction disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0017990 MONDO:0008648 False catecholaminergic polymorphic ventricular tachycardia ventricular tachycardia, familial UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0017990 MONDO:0020575 False catecholaminergic polymorphic ventricular tachycardia polymorphic ventricular tachycardia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017991 MONDO:0002254 False Takayasu arteritis syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0017991 MONDO:0015236 False Takayasu arteritis aortic arch defects UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017991 MONDO:0020592 False Takayasu arteritis disorder of pharynx UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017991 MONDO:0043494 False Takayasu arteritis arteritis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017992 MONDO:0002412 False autoinflammatory syndrome with pyogenic bacterial infection and amylopectinosis disorder of glycogen metabolism UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017992 MONDO:0005046 False autoinflammatory syndrome with pyogenic bacterial infection and amylopectinosis immune system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017992 MONDO:0019751 False autoinflammatory syndrome with pyogenic bacterial infection and amylopectinosis autoinflammatory syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017992 MONDO:0023603 False autoinflammatory syndrome with pyogenic bacterial infection and amylopectinosis hereditary disorder of connective tissue UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017993 MONDO:0011057 False cerebral sinovenous thrombosis cerebrovascular disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017994 MONDO:0002254 False severe early-onset obesity-insulin resistance syndrome due to SH2B1 deficiency syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017994 MONDO:0003847 False severe early-onset obesity-insulin resistance syndrome due to SH2B1 deficiency hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017995 MONDO:0002254 False spondylocostal dysostosis-hypospadias-intellectual disability syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017995 MONDO:0003847 False spondylocostal dysostosis-hypospadias-intellectual disability syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017995 MONDO:0015159 False spondylocostal dysostosis-hypospadias-intellectual disability syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017997 MONDO:0015159 False telecanthus-hypertelorism-strabismus-pes cavus syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017998 MONDO:0018307 False PLA2G6-associated neurodegeneration neurodegeneration with brain iron accumulation UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017999 MONDO:0015150 False fatty acid hydroxylase-associated neurodegeneration complex hereditary spastic paraplegia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017999 MONDO:0015905 False fatty acid hydroxylase-associated neurodegeneration syndromic dyslipidemia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017999 MONDO:0018117 False fatty acid hydroxylase-associated neurodegeneration disorder of phospholipids, sphingolipids and fatty acids biosynthesis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017999 MONDO:0018307 False fatty acid hydroxylase-associated neurodegeneration neurodegeneration with brain iron accumulation UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018000 MONDO:0009332 False hereditary thrombocytosis with transverse limb defect congenital hematological disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018000 MONDO:0018234 False hereditary thrombocytosis with transverse limb defect dysostosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018000 MONDO:0019054 False hereditary thrombocytosis with transverse limb defect congenital limb malformation UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018000 MONDO:0021181 False hereditary thrombocytosis with transverse limb defect inherited blood coagulation disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018001 MONDO:0024296 False inverse Klippel-Trenaunay syndrome vascular neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018002 MONDO:0009637 False adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy inborn mitochondrial myopathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018002 MONDO:0016387 False adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy mitochondrial oxidative phosphorylation disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018004 MONDO:0018872 False acute megakaryoblastic leukemia without down syndrome acute megakaryoblastic leukemia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018005 MONDO:0015087 False spastic paraplegia-Paget disease of bone syndrome autosomal dominant complex spastic paraplegia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018006 MONDO:0016108 False adult-onset distal myopathy due to VCP mutation autosomal dominant distal myopathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018007 MONDO:0700086 False mosaic genome-wide paternal uniparental disomy uniparental disomy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018008 MONDO:0005110 False idiopathic giant cell myocarditis idiopathic cardiomyopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018009 MONDO:0004298 False non-hypoproteinemic hypertrophic gastropathy stomach disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018010 MONDO:0020122 False juvenile idiopathic inflammatory myopathy acquired idiopathic inflammatory myopathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018011 MONDO:0018010 False juvenile overlap myositis juvenile idiopathic inflammatory myopathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018013 MONDO:0018904 False non-immunoglobulin-mediated membranoproliferative glomerulonephritis primary membranoproliferative glomerulonephritis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018014 MONDO:0017714 False transient neonatal multiple acyl-CoA dehydrogenase deficiency acyl-CoA dehydrogenase deficiency UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018015 MONDO:0005554 False intermittent hydrarthrosis rheumatic disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018017 MONDO:0021659 False goblet cell carcinoma combined carcinoid and adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018016 MONDO:0015066 False classic neuroendocrine tumor of appendix neuroendocrine tumor of the appendix, well differentiated, low or intermediate grade UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018017 MONDO:0002120 False goblet cell carcinoma neuroendocrine carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018017 MONDO:0015066 False goblet cell carcinoma neuroendocrine tumor of the appendix, well differentiated, low or intermediate grade UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018018 MONDO:0016345 False wild type ATTR amyloidosis non-familial restrictive cardiomyopathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018018 MONDO:0019065 False wild type ATTR amyloidosis amyloidosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0018019 MONDO:0029000 False lead poisoning poisoning UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018020 MONDO:0029000 False mercury poisoning poisoning UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018021 MONDO:0002254 False hypotrichosis-deafness syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018022 MONDO:0017145 False hemoglobin Lepore-beta-thalassemia syndrome beta-thalassemia and related diseases UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018023 MONDO:0018963 False hemoglobin M disease hereditary methemoglobinemia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018024 MONDO:0002406 False hydroa vacciniforme dermatitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018025 MONDO:0005093 False chronic actinic dermatitis skin disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018026 MONDO:0019934 False tetraploidy syndrome polyploidy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018027 MONDO:0019040 False duplication/inversion 15q11 chromosomal disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018028 MONDO:0016942 False tetrasomy 5p partial trisomy/tetrasomy of the short arm of chromosome 5 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018029 MONDO:0002241 False congenital factor XIII deficiency factor XIII deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018029 MONDO:0002243 False congenital factor XIII deficiency hemorrhagic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0018029 MONDO:0009332 False congenital factor XIII deficiency congenital hematological disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018030 MONDO:0700043 False tetrasomy 9p syndrome caused by partial chromosomal duplication of the short arm of chromosome 9 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018034 MONDO:0002254 False thalidomide embryopathy syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018034 MONDO:0016677 False thalidomide embryopathy toxic or drug-related embryofetopathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018034 MONDO:0018234 False thalidomide embryopathy dysostosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018034 MONDO:0019054 False thalidomide embryopathy congenital limb malformation UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018039 MONDO:0001342 False selective IgM deficiency dysgammaglobulinemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0018043 MONDO:0005267 False Thomas syndrome heart disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018044 MONDO:0005466 False idiopathic hypersomnia hypersomnia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018043 MONDO:0015161 False Thomas syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018044 MONDO:0700007 False idiopathic hypersomnia idiopathic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018045 MONDO:0010584 False Hoyeraal-Hreidarsson syndrome dyskeratosis congenita, X-linked UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018045 MONDO:0020022 False Hoyeraal-Hreidarsson syndrome central nervous system malformation UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018046 MONDO:0003847 False thrombocytopenia-Robin sequence syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018047 MONDO:0021181 False familial thrombomodulin anomalies inherited blood coagulation disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018048 MONDO:0000831 False heparin-induced thrombocytopenia thrombotic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018050 MONDO:0003847 False tibial aplasia-ectrodactyly syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018050 MONDO:0018234 False tibial aplasia-ectrodactyly syndrome dysostosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018050 MONDO:0019054 False tibial aplasia-ectrodactyly syndrome congenital limb malformation UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018051 MONDO:0005093 False Jessner lymphocytic infiltration of the skin skin disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018053 MONDO:0019287 False trichothiodystrophy ectodermal dysplasia syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS MONDO:0018054 MONDO:0003847 False familial atrial fibrillation hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0018058 MONDO:0005087 False tracheal agenesis respiratory system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018054 MONDO:0004981 False familial atrial fibrillation atrial fibrillation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0018058 MONDO:0021147 False tracheal agenesis disorder of development or morphogenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018058 MONDO:0024623 False tracheal agenesis otorhinolaryngologic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018059 MONDO:0006670 False meningococcal meningitis bacterial meningitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0018060 MONDO:0002242 False congenital fibrinogen deficiency coagulation protein disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018060 MONDO:0002243 False congenital fibrinogen deficiency hemorrhagic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018061 MONDO:0019287 False trichodermodysplasia-dental alterations syndrome ectodermal dysplasia syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018062 MONDO:0019287 False autosomal dominant trichoodontoonychodysplasia-syndactyly ectodermal dysplasia syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018063 MONDO:0006591 False nodular non-suppurative panniculitis panniculitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0018063 MONDO:0019296 False nodular non-suppurative panniculitis subcutaneous tissue disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018064 MONDO:0015338 False trigonocephaly-broad thumbs syndrome syndromic craniosynostosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018065 MONDO:0000156 False isolated trigonocephaly trigonocephaly UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018066 MONDO:0002254 False trisomy X syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018065 MONDO:0015337 False isolated trigonocephaly isolated craniosynostosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018066 MONDO:0019852 False trisomy X inherited primary ovarian failure UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018066 MONDO:0700027 False trisomy X chromosome X disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018066 MONDO:0700065 False trisomy X trisomy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018068 MONDO:0002254 False trisomy 13 syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0018067 MONDO:0019934 False triploidy polyploidy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018068 MONDO:0020247 False trisomy 13 congenital vitreoretinal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018068 MONDO:0700020 False trisomy 13 chromosome 13 disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018068 MONDO:0700065 False trisomy 13 trisomy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018070 MONDO:0045024 False familial multiple fibrofolliculoma cancer or benign tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018069 MONDO:0016967 False distal trisomy 17q partial duplication of the long arm of chromosome 17 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018070 MONDO:0045024 False familial multiple fibrofolliculoma cell proliferation disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018070 MONDO:0100118 False familial multiple fibrofolliculoma hereditary skin disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018071 MONDO:0002254 False trisomy 18 syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0018071 MONDO:0700065 False trisomy 18 trisomy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018071 MONDO:0700125 False trisomy 18 chromosome 18 disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018072 MONDO:0005453 False persistent truncus arteriosus congenital heart disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018076 MONDO:0020590 False tuberculosis mycobacterial infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018072 MONDO:0016581 False persistent truncus arteriosus conotruncal heart malformations UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018075 MONDO:0020022 False neural tube defect central nervous system malformation UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018076 MONDO:0000314 False tuberculosis primary bacterial infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0018077 MONDO:0000314 False tularemia primary bacterial infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0018077 MONDO:0100120 False tularemia vector-borne disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018081 MONDO:0018087 False hemorrhagic fever-renal syndrome viral hemorrhagic fever UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018082 MONDO:0020292 False aorto-ventricular tunnel congenital anomaly of the great arteries UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018083 MONDO:0004741 False transient tyrosinemia of the newborn tyrosinemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018084 MONDO:0004994 False Uhl anomaly cardiomyopathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018085 MONDO:0002254 False umbilical cord ulceration-intestinal atresia syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018085 MONDO:0004335 False umbilical cord ulceration-intestinal atresia syndrome digestive system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018087 MONDO:0005108 False viral hemorrhagic fever viral infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018086 MONDO:0018855 False ulerythema ophryogenesis keratosis pilaris atrophicans UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018087 MONDO:0600002 False viral hemorrhagic fever hemorrhagic fever UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018088 MONDO:0005046 False familial Mediterranean fever immune system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0018088 MONDO:0017953 False familial Mediterranean fever hereditary periodic fever syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018089 MONDO:0002070 False double outlet right ventricle ventricular septal defect UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0018089 MONDO:0016581 False double outlet right ventricle conotruncal heart malformations UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018090 MONDO:0016581 False double outlet left ventricle conotruncal heart malformations UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018091 MONDO:0002254 False microcephaly-brachydactyly-kyphoscoliosis syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018091 MONDO:0003847 False microcephaly-brachydactyly-kyphoscoliosis syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018091 MONDO:0005172 False microcephaly-brachydactyly-kyphoscoliosis syndrome skeletal system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018091 MONDO:0015159 False microcephaly-brachydactyly-kyphoscoliosis syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018091 MONDO:0019054 False microcephaly-brachydactyly-kyphoscoliosis syndrome congenital limb malformation UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018092 MONDO:0017255 False Vogt-Koyanagi-Harada disease panuveitis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0018093 MONDO:0005108 False arbovirus fever viral infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018097 MONDO:0002254 False West syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0018094 MONDO:0000426 False Waardenburg syndrome autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0018094 MONDO:0015161 False Waardenburg syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018095 MONDO:0015159 False Weaver-Williams syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018096 MONDO:0000429 False Weill-Marchesani syndrome autosomal genetic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0018096 MONDO:0015161 False Weill-Marchesani syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018096 MONDO:0019695 False Weill-Marchesani syndrome acromelic dysplasia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018097 MONDO:0000413 False West syndrome infancy electroclinical syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0018097 MONDO:0100022 False West syndrome neonatal/infantile epilepsy syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018098 MONDO:0015151 False autosomal dominant limb-girdle muscular dystrophy type 1E (DES) muscular dystrophy, limb-girdle, autosomal dominant UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018098 MONDO:0016187 False autosomal dominant limb-girdle muscular dystrophy type 1E (DES) qualitative or quantitative defects of desmin UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018100 MONDO:0004689 False familial primary hypomagnesemia inborn metal metabolism disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0018100 MONDO:0015962 False familial primary hypomagnesemia inherited renal tubular disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018100 MONDO:0017765 False familial primary hypomagnesemia disorder of magnesium transport UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018101 MONDO:0017626 False familial primary hypomagnesemia with normocalciuria and normocalcemia familial primary hypomagnesemia with normocalcuria UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018103 MONDO:0004907 False Quinquaud's folliculitis decalvans alopecia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018106 MONDO:0000721 False hereditary xanthinuria xanthinuria UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018107 MONDO:0005108 False idiopathic recurrent and disabling cutaneous herpes viral infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018107 MONDO:0700007 False idiopathic recurrent and disabling cutaneous herpes idiopathic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018106 MONDO:0019236 False hereditary xanthinuria inborn disorder of purine metabolism UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018108 MONDO:0005132 False idiopathic disseminated cytomegalovirus infection cytomegalovirus infection UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018108 MONDO:0700007 False idiopathic disseminated cytomegalovirus infection idiopathic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018109 MONDO:0002251 False fulminant viral hepatitis hepatitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018110 MONDO:0005108 False lethal idiopathic viral infection viral infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018110 MONDO:0700007 False lethal idiopathic viral infection idiopathic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018115 MONDO:0002254 False epidermal nevus syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018116 MONDO:0005328 False galactosemia eye disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0018116 MONDO:0017690 False galactosemia disorder of galactose metabolism UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018117 MONDO:0002525 False disorder of phospholipids, sphingolipids and fatty acids biosynthesis inherited lipid metabolism disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018121 MONDO:0016387 False mitochondrial DNA maintenance syndrome mitochondrial oxidative phosphorylation disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018122 MONDO:0002254 False digital anomalies-intellectual disability-short stature syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018123 MONDO:0002254 False intellectual disability-obesity-brain malformations-facial dysmorphism syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018124 MONDO:0001068 False Oncogenic osteomalacia osteomalacia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018124 MONDO:0005151 False Oncogenic osteomalacia endocrine system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018124 MONDO:0021073 False Oncogenic osteomalacia paraneoplastic syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018125 MONDO:0015653 False focal epilepsy-intellectual disability-cerebro-cerebellar malformation monogenic epilepsy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018126 MONDO:0020071 False progressive myoclonic epilepsy with dystonia infantile epilepsy syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018127 MONDO:0005087 False 16q24.1 microdeletion syndrome respiratory system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018127 MONDO:0016914 False 16q24.1 microdeletion syndrome partial deletion of the long arm of chromosome 16 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018128 MONDO:0019707 False phalangeal microgeodic syndrome primary osteolysis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018129 MONDO:0019255 False autosomal recessive cerebellar ataxia with late-onset spasticity sphingolipidosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018129 MONDO:0020044 False autosomal recessive cerebellar ataxia with late-onset spasticity autosomal recessive metabolic cerebellar ataxia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018130 MONDO:0019219 False brain dopamine-serotonin vesicular transport disease inborn disorder of neurotransmitter metabolism and transport UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018131 MONDO:0016908 False neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-hip dysplasia syndrome due to 9q21 microdeletion partial monosomy of the long arm of chromosome 9 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018131 MONDO:0018681 False neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-hip dysplasia syndrome due to 9q21 microdeletion neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-hip dysplasia syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018133 MONDO:0020127 False attenuated Chédiak-Higashi syndrome hereditary peripheral neuropathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018133 MONDO:0024237 False attenuated Chédiak-Higashi syndrome inherited neurodegenerative disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018134 MONDO:0019189 False disorder of melanin metabolism inborn disorder of amino acid and other organic acid metabolism UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018135 MONDO:0017307 False oculocutaneous albinism type 1 disorder of tyrosine metabolism UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018135 MONDO:0018910 False oculocutaneous albinism type 1 oculocutaneous albinism UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018136 MONDO:0018135 False minimal pigment oculocutaneous albinism type 1 oculocutaneous albinism type 1 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018137 MONDO:0018135 False temperature-sensitive oculocutaneous albinism type 1 oculocutaneous albinism type 1 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018141 MONDO:0009949 False pyruvate carboxylase deficiency, infantile form pyruvate carboxylase deficiency disease UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018142 MONDO:0009949 False pyruvate carboxylase deficiency, severe neonatal type pyruvate carboxylase deficiency disease UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018143 MONDO:0009949 False pyruvate carboxylase deficiency, benign type pyruvate carboxylase deficiency disease UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018145 MONDO:0002320 False congenital retinal arteriovenous communication congenital nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018145 MONDO:0005283 False congenital retinal arteriovenous communication retinal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018146 MONDO:0005328 False idiopathic macular telangiectasia type 1 eye disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -28347,19 +26870,35 @@ MONDO:0018147 MONDO:0700007 False idiopathic macular telangiectasia type 3 idiop MONDO:0018148 MONDO:0002311 False vasoproliferative tumor of retina retinal vascular disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018149 MONDO:0005328 False GM1 gangliosidosis eye disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0018149 MONDO:0005381 False GM1 gangliosidosis bone disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0018149 MONDO:0017719 False GM1 gangliosidosis gangliosidosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0018150 MONDO:0005328 False Gaucher disease eye disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0018151 MONDO:0016387 False coenzyme Q10 deficiency mitochondrial oxidative phosphorylation disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018151 MONDO:0020127 False coenzyme Q10 deficiency hereditary peripheral neuropathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018152 MONDO:0001280 False serpiginous choroiditis choroiditis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018153 MONDO:0002254 False Erdheim-Chester disease syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0018153 MONDO:0015531 False Erdheim-Chester disease non-Langerhans cell histiocytosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0018154 MONDO:0007481 False Madelung deformity Leri-Weill dyschondrosteosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018155 MONDO:0024257 False lateral sclerosis hereditary motor neuron disease UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018156 MONDO:0016902 False 3q26q27 microdeletion syndrome partial deletion of the long arm of chromosome 3 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018158 MONDO:0016387 False mitochondrial DNA depletion syndrome mitochondrial oxidative phosphorylation disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018159 MONDO:0016244 False atypical hemolytic-uremic syndrome with DGKE deficiency atypical hemolytic-uremic syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0018160 MONDO:0015356 False hereditary retinoblastoma hereditary neoplastic syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018161 MONDO:0008380 False non-hereditary retinoblastoma retinoblastoma UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018162 MONDO:0000421 False neurometabolic disorder due to serine deficiency inborn serine deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018163 MONDO:0019573 False autosomal recessive cutis laxa type 2A autosomal recessive cutis laxa type 2 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018163 MONDO:0100118 False autosomal recessive cutis laxa type 2A hereditary skin disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018163 MONDO:0800064 False autosomal recessive cutis laxa type 2A osteogenesis imperfecta and a reduction of bone mineral density. UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018164 MONDO:0005979 False arterial thoracic outlet syndrome thoracic outlet syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018165 MONDO:0005979 False venous thoracic outlet syndrome thoracic outlet syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018166 MONDO:0023369 False oral submucous fibrosis disorder of facial skeleton UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018167 MONDO:0019033 False primary essential cutis verticis gyrata primary cutis verticis gyrata UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018168 MONDO:0019033 False primary non-essential cutis verticis gyrata primary cutis verticis gyrata UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018169 MONDO:0007354 False morning glory syndrome coloboma of optic nerve UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018169 MONDO:0020249 False morning glory syndrome hereditary optic neuropathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018170 MONDO:0005377 False idiopathic nephrotic syndrome nephrotic syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018170 MONDO:0700007 False idiopathic nephrotic syndrome idiopathic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018171 MONDO:0018202 False malignant germ cell tumor of ovary gonadal germ cell tumor UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018171 MONDO:0018365 False malignant germ cell tumor of ovary malignant non-epithelial tumor of ovary UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018172 MONDO:0018365 False malignant sex cord stromal tumor of ovary malignant non-epithelial tumor of ovary UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018173 MONDO:0020683 False acute opioid poisoning acute disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018173 MONDO:0029000 False acute opioid poisoning poisoning UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018174 MONDO:0003847 False hereditary glaucoma hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -28367,116 +26906,274 @@ MONDO:0018174 MONDO:0005041 False hereditary glaucoma glaucoma UNSUPPORTED-MISSI MONDO:0018175 MONDO:0002242 False combined deficiency of factor V and factor VIII coagulation protein disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018175 MONDO:0002243 False combined deficiency of factor V and factor VIII hemorrhagic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018178 MONDO:0005020 False intestinal lymphangiectasia intestinal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018180 MONDO:0017592 False staphylococcal scarlet fever staphylococcal toxemia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018181 MONDO:0000315 False staphylococcal scalded skin syndrome commensal bacterial infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0018181 MONDO:0005545 False staphylococcal scalded skin syndrome staphylococcus aureus infection UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018181 MONDO:0017592 False staphylococcal scalded skin syndrome staphylococcal toxemia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018181 MONDO:0024295 False staphylococcal scalded skin syndrome skin disease caused by bacterial infection UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018182 MONDO:0017592 False bullous impetigo staphylococcal toxemia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018182 MONDO:0024295 False bullous impetigo skin disease caused by bacterial infection UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018183 MONDO:0005087 False staphylococcal necrotizing pneumonia respiratory system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018183 MONDO:0017592 False staphylococcal necrotizing pneumonia staphylococcal toxemia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018184 MONDO:0005017 False gastric linitis plastica diffuse gastric adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018189 MONDO:0019216 False autosomal recessive cerebellar ataxia - pyramidal signs - nystagmus - oculomotor apraxia syndrome inborn disorder of amino acid transport UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018189 MONDO:0020044 False autosomal recessive cerebellar ataxia - pyramidal signs - nystagmus - oculomotor apraxia syndrome autosomal recessive metabolic cerebellar ataxia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018190 MONDO:0019079 False autosomal dominant childhood-onset proximal spinal muscular atrophy proximal spinal muscular atrophy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018192 MONDO:0005447 False paratesticular adenocarcinoma testicular cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018197 MONDO:0015962 False mitochondrial DNA depletion syndrome, hepatocerebrorenal form inherited renal tubular disease UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018197 MONDO:0100512 False mitochondrial DNA depletion syndrome, hepatocerebrorenal form mitochondrial DNA depletion syndrome, hepatocerebral form UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018198 MONDO:0020072 False acute encephalopathy with biphasic seizures and late reduced diffusion childhood-onset epilepsy syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018198 MONDO:0020683 False acute encephalopathy with biphasic seizures and late reduced diffusion acute disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018199 MONDO:0020072 False new-onset refractory status epilepticus childhood-onset epilepsy syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018199 MONDO:0020073 False new-onset refractory status epilepticus adolescent-onset epilepsy syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018202 MONDO:0005040 False gonadal germ cell tumor germ cell tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018203 MONDO:0003847 False LMNA-related cardiocutaneous progeria syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018203 MONDO:0005267 False LMNA-related cardiocutaneous progeria syndrome heart disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018203 MONDO:0019303 False LMNA-related cardiocutaneous progeria syndrome premature aging syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018204 MONDO:0015159 False 20q11.2 microduplication syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018204 MONDO:0016970 False 20q11.2 microduplication syndrome partial trisomy of the long arm of chromosome 20 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018205 MONDO:0022756 False distal monosomy 1q chromosome 1q deletion UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018206 MONDO:0011577 False childhood-onset autosomal recessive myopathy with external ophthalmoplegia myopathy, proximal, and ophthalmoplegia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018206 MONDO:0016112 False childhood-onset autosomal recessive myopathy with external ophthalmoplegia hereditary inclusion-body myopathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018207 MONDO:0015159 False 2p13.2 microdeletion syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018207 MONDO:0016884 False 2p13.2 microdeletion syndrome partial deletion of the short arm of chromosome 2 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018208 MONDO:0018975 False neurofibromatosis type 1 due to NF1 mutation or intragenic deletion neurofibromatosis type 1 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018209 MONDO:0008752 False Alexander disease type I Alexander disease UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018210 MONDO:0008752 False Alexander disease type II Alexander disease UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018211 MONDO:0005071 False Balint syndrome nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018212 MONDO:0003847 False familial cervical artery dissection hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018212 MONDO:0006061 False familial cervical artery dissection cervical artery dissection UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018213 MONDO:0015364 False hereditary sensory and autonomic neuropathy type 1 hereditary sensory and autonomic neuropathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0018213 MONDO:0018117 False hereditary sensory and autonomic neuropathy type 1 disorder of phospholipids, sphingolipids and fatty acids biosynthesis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018214 MONDO:0015653 False generalized epilepsy with febrile seizures plus monogenic epilepsy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018215 MONDO:0005071 False paraneoplastic neurologic syndrome nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018215 MONDO:0021073 False paraneoplastic neurologic syndrome paraneoplastic syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018216 MONDO:0012496 False Koolen-de Vries syndrome due to 17q21.31 microdeletion syndrome Koolen-de Vries syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018216 MONDO:0016915 False Koolen-de Vries syndrome due to 17q21.31 microdeletion syndrome partial deletion of the long arm of chromosome 17 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018217 MONDO:0012496 False Koolen-de Vries syndrome due to a point mutation Koolen-de Vries syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018218 MONDO:0006025 False autosomal recessive cerebral atrophy autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018218 MONDO:0024237 False autosomal recessive cerebral atrophy inherited neurodegenerative disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018223 MONDO:0000621 False systemic Epstein-Barr virus-positive T-cell lymphoproliferative disease of childhood immune system cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0018223 MONDO:0017343 False systemic Epstein-Barr virus-positive T-cell lymphoproliferative disease of childhood Epstein-Barr virus-associated malignant lymphoproliferative disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018224 MONDO:0000430 False hydroa vacciniforme-like lymphoma mature T-cell and NK-cell non-Hodgkin lymphoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018224 MONDO:0017343 False hydroa vacciniforme-like lymphoma Epstein-Barr virus-associated malignant lymphoproliferative disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018226 MONDO:0020065 False infantile epileptic-dyskinetic encephalopathy combined dystonia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018227 MONDO:0015491 False hypocomplementemic urticarial vasculitis immune complex mediated vasculitis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018228 MONDO:0003847 False bipartite talus hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018229 MONDO:0002254 False Stevens-Johnson syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0018228 MONDO:0018234 False bipartite talus dysostosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018229 MONDO:0019810 False Stevens-Johnson syndrome toxic epidermal necrolysis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018230 MONDO:0003847 False skeletal dysplasia hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018230 MONDO:0005381 False skeletal dysplasia bone disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018233 MONDO:0019690 False otopalatodigital syndrome spectrum disorder filamin-related bone disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018234 MONDO:0005497 False dysostosis bone development disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0018237 MONDO:0003847 False acrofacial dysostosis hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0018237 MONDO:0019054 False acrofacial dysostosis congenital limb malformation UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018240 MONDO:0018230 False TRPV4-related bone disorder skeletal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018242 MONDO:0000569 False autoimmune hypoparathyroidism autoimmune disorder of endocrine system UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018242 MONDO:0001220 False autoimmune hypoparathyroidism hypoparathyroidism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018243 MONDO:0005395 False intellectual disability-hyperkinetic movement-truncal ataxia syndrome movement disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018244 MONDO:0019182 False obesity due to SIM1 deficiency inherited obesity UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018245 MONDO:0015583 False 2p21 microdeletion syndrome without cystinuria 2p21 microdeletion syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018247 MONDO:0002254 False CADDS syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018247 MONDO:0015327 False CADDS developmental anomaly of metabolic origin UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018247 MONDO:0019046 False CADDS leukodystrophy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018247 MONDO:0019053 False CADDS peroxisomal disease UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018248 MONDO:0015159 False intellectual disability-seizures-macrocephaly-obesity syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018249 MONDO:0002254 False finger hyperphalangy - toe anomalies - severe pectus excavatum syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018250 MONDO:0017666 False diffuse palmoplantar keratoderma with painful fissures diffuse palmoplantar keratoderma UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018252 MONDO:0017672 False focal palmoplantar keratoderma with joint keratoses focal palmoplantar keratoderma UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018253 MONDO:0015159 False intellectual disability-facial dysmorphism-hand anomalies syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018254 MONDO:0100510 False spondyloepimetaphyseal dysplasia, Isidor type spondyloepimetaphyseal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018255 MONDO:0016763 False spondylometaphyseal dysplasia, Czarny-Ratajczak type spondylometaphyseal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018256 MONDO:0018874 False acute myeloid leukemia with t(8;16)(p11;p13) translocation acute myeloid leukemia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018257 MONDO:0003847 False familial syringomyelia hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018257 MONDO:0020508 False familial syringomyelia primary syringomyelia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018258 MONDO:0005073 False Angora hair nevus melanocytic nevus UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018259 MONDO:0005073 False didymosis aplasticosebacea melanocytic nevus UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018260 MONDO:0005073 False scalp syndrome melanocytic nevus UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018261 MONDO:0005073 False Nevada syndrome melanocytic nevus UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018263 MONDO:0016677 False fetal carbamazepine syndrome toxic or drug-related embryofetopathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018266 MONDO:0002254 False ataxia - telangiectasia variant syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018266 MONDO:0020065 False ataxia - telangiectasia variant combined dystonia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018268 MONDO:0020117 False Medich giant platelet syndrome alpha granule disease UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018269 MONDO:0020117 False white platelet syndrome alpha granule disease UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018273 MONDO:0015159 False XYLT1-congenital disorder of glycosylation multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018273 MONDO:0015286 False XYLT1-congenital disorder of glycosylation congenital disorder of glycosylation UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018273 MONDO:0015327 False XYLT1-congenital disorder of glycosylation developmental anomaly of metabolic origin UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018274 MONDO:0006025 False GM3 synthase deficiency autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0018274 MONDO:0017748 False GM3 synthase deficiency inborn disorder of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018274 MONDO:0018117 False GM3 synthase deficiency disorder of phospholipids, sphingolipids and fatty acids biosynthesis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018276 MONDO:0019950 False muscular dystrophy-dystroglycanopathy congenital muscular dystrophy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0018278 MONDO:0015286 False congenital muscular dystrophy with intellectual disability congenital disorder of glycosylation UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018278 MONDO:0018276 False congenital muscular dystrophy with intellectual disability muscular dystrophy-dystroglycanopathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018280 MONDO:0018276 False muscle-eye-brain disease with bilateral multicystic leucodystrophy muscular dystrophy-dystroglycanopathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018280 MONDO:0018869 False muscle-eye-brain disease with bilateral multicystic leucodystrophy cobblestone lissencephaly UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018281 MONDO:0019950 False congenital muscular dystrophy with hyperlaxity congenital muscular dystrophy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018282 MONDO:0016139 False qualitative or quantitative defects of alpha-dystroglycan qualitative or quantitative protein defects in neuromuscular diseases UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018298 MONDO:0019707 False multicentric osteolysis-nodulosis-arthropathy spectrum primary osteolysis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018301 MONDO:0003900 False interstitial cystitis connective tissue disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0018302 MONDO:0005093 False acquired kinky hair syndrome skin disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018304 MONDO:0019751 False Schnitzler syndrome autoinflammatory syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018305 MONDO:0005910 False chronic granulomatous disease phagocyte bactericidal dysfunction UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0018305 MONDO:0021166 False chronic granulomatous disease inflammatory disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018305 MONDO:0024626 False chronic granulomatous disease defective phagocytic cell engulfment UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018306 MONDO:0017305 False Griscelli syndrome syndromic oculocutaneous albinism UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018307 MONDO:0002279 False neurodegeneration with brain iron accumulation iron metabolism disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0018307 MONDO:0002283 False neurodegeneration with brain iron accumulation neuroaxonal dystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0018307 MONDO:0005395 False neurodegeneration with brain iron accumulation movement disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0018307 MONDO:0015547 False neurodegeneration with brain iron accumulation hereditary dementia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018307 MONDO:0019052 False neurodegeneration with brain iron accumulation inborn errors of metabolism UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0018308 MONDO:0024478 False liver mesenchymal hamartoma mesenchymal hamartoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018307 MONDO:0024237 False neurodegeneration with brain iron accumulation inherited neurodegenerative disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018308 MONDO:0024477 False liver mesenchymal hamartoma liver and intrahepatic bile duct neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018309 MONDO:0003847 False Hirschsprung disease hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0018309 MONDO:0021189 False Hirschsprung disease intestinal motility disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018309 MONDO:0021635 False Hirschsprung disease neurocristopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018310 MONDO:0002637 False Langerhans cell histiocytosis histiocytosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0018310 MONDO:0004805 False Langerhans cell histiocytosis leukocyte disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0018310 MONDO:0020082 False Langerhans cell histiocytosis dendritic cell tumor UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018310 MONDO:0024627 False Langerhans cell histiocytosis phagocytic cell dysfunction UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018311 MONDO:0019289 False acromelanosis hyperpigmentation of the skin UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018312 MONDO:0000308 False histoplasmosis primary systemic mycosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0018314 MONDO:0015653 False infantile-onset mesial temporal lobe epilepsy with severe cognitive regression monogenic epilepsy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018314 MONDO:0020071 False infantile-onset mesial temporal lobe epilepsy with severe cognitive regression infantile epilepsy syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018315 MONDO:0005298 False X-linked osteoporosis with fractures osteoporosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018316 MONDO:0024237 False fatal post-viral neurodegenerative disorder inherited neurodegenerative disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018317 MONDO:0002254 False growth retardation-mild developmental delay-chronic hepatitis syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018317 MONDO:0003847 False growth retardation-mild developmental delay-chronic hepatitis syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018317 MONDO:0004335 False growth retardation-mild developmental delay-chronic hepatitis syndrome digestive system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018319 MONDO:0020127 False familial episodic pain syndrome hereditary peripheral neuropathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018319 MONDO:0021667 False familial episodic pain syndrome neuralgia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018320 MONDO:0002254 False primary microcephaly-mild intellectual disability-young-onset diabetes syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018321 MONDO:0021095 False atypical juvenile parkinsonism parkinsonian disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018322 MONDO:0010327 False HSD10 disease, infantile type HSD10 mitochondrial disease UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018323 MONDO:0010327 False HSD10 disease, neonatal type HSD10 mitochondrial disease UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018324 MONDO:0009688 False adult-onset myasthenia gravis myasthenia gravis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018325 MONDO:0009688 False juvenile myasthenia gravis myasthenia gravis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018326 MONDO:0018356 False transient neonatal myasthenia gravis secondary neonatal autoimmune disease UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018327 MONDO:0006424 False glomus tumor soft tissue neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018328 MONDO:0005439 False homozygous familial hypercholesterolemia familial hypercholesterolemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018330 MONDO:0005007 False mucinous adenocarcinoma of the appendix colon mucinous adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018332 MONDO:0009282 False multiple acyl-CoA dehydrogenase deficiency, severe neonatal type multiple acyl-CoA dehydrogenase deficiency UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018333 MONDO:0009282 False multiple acyl-CoA dehydrogenase deficiency, mild type multiple acyl-CoA dehydrogenase deficiency UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018334 MONDO:0001292 False chronic hiccup autonomic nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018338 MONDO:0015977 False activated PI3K-delta syndrome agammaglobulinemia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018339 MONDO:0003847 False PrP systemic amyloidosis hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018339 MONDO:0005429 False PrP systemic amyloidosis prion disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018341 MONDO:0000508 False 3q27.3 microdeletion syndrome syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018341 MONDO:0000761 False 3q27.3 microdeletion syndrome syndrome caused by partial chromosomal deletion UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018341 MONDO:0002320 False 3q27.3 microdeletion syndrome congenital nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018341 MONDO:0015159 False 3q27.3 microdeletion syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018342 MONDO:0015369 False Joubert syndrome with Jeune asphyxiating thoracic dystrophy Joubert syndrome and related disorders UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018342 MONDO:0015461 False Joubert syndrome with Jeune asphyxiating thoracic dystrophy short rib-polydactyly syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018343 MONDO:0000995 False periodic paralysis with later-onset distal motor neuropathy familial periodic paralysis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018343 MONDO:0016387 False periodic paralysis with later-onset distal motor neuropathy mitochondrial oxidative phosphorylation disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018343 MONDO:0019056 False periodic paralysis with later-onset distal motor neuropathy neuromuscular disease UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018346 MONDO:0002254 False ferro-cerebro-cutaneous syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018346 MONDO:0019052 False ferro-cerebro-cutaneous syndrome inborn errors of metabolism UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018346 MONDO:0024237 False ferro-cerebro-cutaneous syndrome inherited neurodegenerative disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018347 MONDO:0002254 False severe intellectual disability-progressive postnatal microcephaly- midline stereotypic hand movements syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018349 MONDO:0017740 False MAN1B1-congenital disorder of glycosylation disorder of protein N-glycosylation UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018353 MONDO:0005020 False refractory celiac disease intestinal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018354 MONDO:0002320 False Prader-Willi-like syndrome congenital nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018354 MONDO:0015160 False Prader-Willi-like syndrome multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018354 MONDO:0015770 False Prader-Willi-like syndrome congenital hypogonadotropic hypogonadism UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018355 MONDO:0018354 False SIM1-related Prader-Willi-like syndrome Prader-Willi-like syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018356 MONDO:0007179 False secondary neonatal autoimmune disease autoimmune disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018357 MONDO:0018356 False neonatal antiphospholipid syndrome secondary neonatal autoimmune disease UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018357 MONDO:0021008 False neonatal antiphospholipid syndrome secondary antiphospholipid syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018358 MONDO:0018356 False neonatal autoimmune hemolytic anemia secondary neonatal autoimmune disease UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018358 MONDO:0020108 False neonatal autoimmune hemolytic anemia autoimmune hemolytic anemia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018359 MONDO:0000589 False neonatal dermatomyositis autoimmune disorder of musculoskeletal system UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018359 MONDO:0016367 False neonatal dermatomyositis dermatomyositis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018359 MONDO:0018356 False neonatal dermatomyositis secondary neonatal autoimmune disease UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018360 MONDO:0007915 False neonatal lupus erythematosus systemic lupus erythematosus UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018360 MONDO:0018356 False neonatal lupus erythematosus secondary neonatal autoimmune disease UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018361 MONDO:0018356 False neonatal scleroderma secondary neonatal autoimmune disease UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018361 MONDO:0019340 False neonatal scleroderma scleroderma UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018362 MONDO:0005071 False persistent idiopathic facial pain nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018362 MONDO:0700007 False persistent idiopathic facial pain idiopathic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018363 MONDO:0019287 False focal facial dermal dysplasia ectodermal dysplasia syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0018364 MONDO:0004993 False malignant epithelial tumor of ovary carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0018365 MONDO:0008170 False malignant non-epithelial tumor of ovary ovarian cancer UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018368 MONDO:0005211 False primary peritoneal serous/papillary carcinoma ovarian serous adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0018369 MONDO:0003514 False immature ovarian teratoma malignant teratoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0018369 MONDO:0016096 False immature ovarian teratoma malignant non-dysgerminomatous germ cell tumor of ovary UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018370 MONDO:0016108 False KLHL9-related early-onset distal myopathy autosomal dominant distal myopathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018371 MONDO:0018949 False nebulin-related early-onset distal myopathy distal myopathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018374 MONDO:0018373 False secondary avascular necrosis avascular necrosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018375 MONDO:0018374 False traumatic avascular necrosis secondary avascular necrosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018376 MONDO:0018374 False secondary non-traumatic avascular necrosis secondary avascular necrosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018378 MONDO:0018374 False osteonecrosis of the jaw secondary avascular necrosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018379 MONDO:0018373 False primary avascular necrosis avascular necrosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018380 MONDO:0018379 False idiopathic avascular necrosis primary avascular necrosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018380 MONDO:0700007 False idiopathic avascular necrosis idiopathic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018381 MONDO:0005380 False osteochondrosis osteonecrosis UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0018382 MONDO:0005380 False epiphysiolysis of the hip osteonecrosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018383 MONDO:0003847 False osteonecrosis of genetic origin hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018383 MONDO:0005380 False osteonecrosis of genetic origin osteonecrosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018394 MONDO:0005372 False male infertility with teratozoospermia due to single gene mutation male infertility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018408 MONDO:0044346 False cystic echinococcosis echinococcus granulosus infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018416 MONDO:0015150 False autosomal recessive spastic paraplegia type 59 complex hereditary spastic paraplegia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018417 MONDO:0015150 False autosomal recessive spastic paraplegia type 60 complex hereditary spastic paraplegia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018418 MONDO:0015150 False autosomal recessive spastic paraplegia type 66 complex hereditary spastic paraplegia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018419 MONDO:0015150 False autosomal recessive spastic paraplegia type 67 complex hereditary spastic paraplegia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018420 MONDO:0015150 False autosomal recessive spastic paraplegia type 68 complex hereditary spastic paraplegia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018421 MONDO:0015150 False autosomal recessive spastic paraplegia type 69 complex hereditary spastic paraplegia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018422 MONDO:0015150 False autosomal recessive spastic paraplegia type 70 complex hereditary spastic paraplegia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018423 MONDO:0015149 False autosomal recessive spastic paraplegia type 71 pure hereditary spastic paraplegia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018424 MONDO:0004069 False inherited lipoic acid biosynthesis defect inborn mitochondrial metabolism disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018424 MONDO:0037858 False inherited lipoic acid biosynthesis defect inherited fatty acid metabolism disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018424 MONDO:0045022 False inherited lipoic acid biosynthesis defect disorder of organic acid metabolism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018424 MONDO:0056803 False inherited lipoic acid biosynthesis defect sulfur metabolism disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018425 MONDO:0005395 False Huntington disease-like syndrome due to C9ORF72 expansions movement disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018425 MONDO:0015548 False Huntington disease-like syndrome due to C9ORF72 expansions Huntington disease-like syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018426 MONDO:0016362 False AXIN2-related attenuated familial adenomatous polyposis attenuated familial adenomatous polyposis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018428 MONDO:0000508 False 9q31.1q31.3 microdeletion syndrome syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018428 MONDO:0002320 False 9q31.1q31.3 microdeletion syndrome congenital nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018428 MONDO:0015159 False 9q31.1q31.3 microdeletion syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018428 MONDO:0016908 False 9q31.1q31.3 microdeletion syndrome partial monosomy of the long arm of chromosome 9 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018429 MONDO:0015159 False 14q24.1q24.3 microdeletion syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018429 MONDO:0016912 False 14q24.1q24.3 microdeletion syndrome partial deletion of the long arm of chromosome 14 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018430 MONDO:0020022 False partial corpus callosum agenesis-cerebellar vermis hypoplasia with posterior fossa cysts syndrome central nervous system malformation UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018431 MONDO:0015364 False cold-induced sweating syndrome - hyperthermia spectrum hereditary sensory and autonomic neuropathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018432 MONDO:0002523 False lichen myxedematosus cutaneous mucinosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018432 MONDO:0021154 False lichen myxedematosus dermis disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018433 MONDO:0018874 False acute myeloid leukemia with t(6;9)(p23;q34) acute myeloid leukemia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018434 MONDO:0018874 False acute myeloid leukemia with t(9;11)(p22;q23) acute myeloid leukemia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018435 MONDO:0018874 False acute myeloid leukemia with inv3(p21;q26.2) or t(3;3)(p21;q26.2) acute myeloid leukemia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018436 MONDO:0018874 False megakaryoblastic acute myeloid leukemia with t(1;22)(p13;q13) acute myeloid leukemia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018437 MONDO:0018874 False acute myeloid leukemia with NPM1 somatic mutations acute myeloid leukemia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018438 MONDO:0005020 False eosinophilic gastrointestinal disease intestinal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018439 MONDO:0000702 False eosinophilic colitis microscopic colitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018439 MONDO:0016129 False eosinophilic colitis eosinophilic gastroenteritis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018440 MONDO:0006025 False autosomal recessive distal renal tubular acidosis autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018440 MONDO:0015827 False autosomal recessive distal renal tubular acidosis distal renal tubular acidosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018442 MONDO:0016677 False acitretin/etretinate embryopathy toxic or drug-related embryofetopathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018443 MONDO:0015159 False FBLN1-related developmental delay-central nervous system anomaly-syndactyly syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018445 MONDO:0003847 False global developmental delay - lung cysts - overgrowth - Wilms tumor syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018445 MONDO:0019716 False global developmental delay - lung cysts - overgrowth - Wilms tumor syndrome overgrowth syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018446 MONDO:0015244 False autosomal recessive cerebellar ataxia - epilepsy - intellectual disability syndrome autosomal recessive cerebellar ataxia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018446 MONDO:0015653 False autosomal recessive cerebellar ataxia - epilepsy - intellectual disability syndrome monogenic epilepsy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018448 MONDO:0007763 False clear cell papillary renal cell carcinoma nonpapillary renal cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018449 MONDO:0005086 False acquired cystic disease-associated renal cell carcinoma renal cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018450 MONDO:0001516 False spinal muscular atrophy with respiratory distress type 2 spinal muscular atrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018450 MONDO:0024257 False spinal muscular atrophy with respiratory distress type 2 hereditary motor neuron disease UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018453 MONDO:0002051 False familial atypical multiple mole melanoma syndrome integumentary system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018456 MONDO:0011429 False polyarticular juvenile idiopathic arthritis juvenile idiopathic arthritis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018458 MONDO:0001566 False familial hypocalciuric hypercalcemia hypercalcemia disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0018458 MONDO:0005151 False familial hypocalciuric hypercalcemia endocrine system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0018458 MONDO:0017014 False familial hypocalciuric hypercalcemia interstitial lung disease specific to childhood UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018458 MONDO:0019052 False familial hypocalciuric hypercalcemia inborn errors of metabolism UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0018459 MONDO:0010613 False isolated glycerol kinase deficiency inborn glycerol kinase deficiency UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018460 MONDO:0005283 False Eales disease retinal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018461 MONDO:0007113 False Angelman syndrome due to a point mutation Angelman syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018462 MONDO:0007113 False Angelman syndrome due to imprinting defect in 15q11-q13 Angelman syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018463 MONDO:0010395 False mild phosphoribosylpyrophosphate synthetase superactivity phosphoribosylpyrophosphate synthetase superactivity UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018464 MONDO:0010395 False severe phosphoribosylpyrophosphate synthetase superactivity phosphoribosylpyrophosphate synthetase superactivity UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018465 MONDO:0000569 False insulin autoimmune syndrome autoimmune disorder of endocrine system UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0018465 MONDO:0005803 False insulin autoimmune syndrome hyperinsulinemic hypoglycemia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0018467 MONDO:0019216 False nephropathic infantile cystinosis inborn disorder of amino acid transport UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018467 MONDO:0100151 False nephropathic infantile cystinosis nephropathic cystinosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018468 MONDO:0018438 False proton-pump inhibitor-responsive esophageal eosinophilia eosinophilic gastrointestinal disease UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018469 MONDO:0005275 False pulmonary non-tuberculous mycobacterial infection lung disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018469 MONDO:0020590 False pulmonary non-tuberculous mycobacterial infection mycobacterial infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018469 MONDO:0024355 False pulmonary non-tuberculous mycobacterial infection respiratory tract infectious disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -28484,16 +27181,40 @@ MONDO:0018470 MONDO:0021147 False renal agenesis disorder of development or morp MONDO:0018470 MONDO:0100191 False renal agenesis inherited kidney disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018471 MONDO:0002527 False generalized eruptive keratoacanthoma keratoacanthoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018472 MONDO:0008593 False familial isolated trichomegaly trichomegaly UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018473 MONDO:0001336 False hyperlipoproteinemia type 3 familial hyperlipidemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0018474 MONDO:0015159 False 13q12.3 microdeletion syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018474 MONDO:0016911 False 13q12.3 microdeletion syndrome partial deletion of the long arm of chromosome 13 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018474 MONDO:0019268 False 13q12.3 microdeletion syndrome epidermal disease UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018475 MONDO:0015547 False PRKAR1B-related neurodegenerative dementia with intermediate filaments hereditary dementia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018475 MONDO:0024237 False PRKAR1B-related neurodegenerative dementia with intermediate filaments inherited neurodegenerative disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018476 MONDO:0002254 False dystonia-aphonia syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018476 MONDO:0020065 False dystonia-aphonia syndrome combined dystonia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018477 MONDO:0005560 False bilirubin encephalopathy brain disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0018477 MONDO:0017755 False bilirubin encephalopathy inborn disorder of bilirubin metabolism UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018479 MONDO:0005523 False congenital adrenal hyperplasia steroid inherited metabolic disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0018479 MONDO:0015129 False congenital adrenal hyperplasia chronic primary adrenal insufficiency UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0018479 MONDO:0015514 False congenital adrenal hyperplasia hereditary endocrine growth disease UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018479 MONDO:0015898 False congenital adrenal hyperplasia adrenogenital syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018480 MONDO:0019086 False carcinoma of esophagus, salivary gland type carcinoma of esophagus UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018481 MONDO:0005580 False undifferentiated carcinoma of esophagus esophageal squamous cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018483 MONDO:0001437 False secondary pulmonary alveolar proteinosis pulmonary alveolar proteinosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018484 MONDO:0024623 False semicircular canal dehiscence syndrome otorhinolaryngologic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018485 MONDO:0009290 False glycogen storage disease due to acid maltase deficiency, late-onset glycogen storage disease II UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018486 MONDO:0005328 False visual snow syndrome eye disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018487 MONDO:0028226 False autosomal recessive severe congenital neutropenia due to CXCR2 deficiency autosomal recessive severe congenital neutropenia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018489 MONDO:0000568 False autoimmune encephalopathy with parasomnia and obstructive sleep apnea autoimmune disorder of central nervous system UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018489 MONDO:0003406 False autoimmune encephalopathy with parasomnia and obstructive sleep apnea sleep-wake disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018489 MONDO:0005560 False autoimmune encephalopathy with parasomnia and obstructive sleep apnea brain disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018490 MONDO:0015159 False cono-spondylar dysplasia multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018490 MONDO:0016761 False cono-spondylar dysplasia spondyloepiphyseal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018491 MONDO:0018162 False 3-phosphoglycerate dehydrogenase deficiency neurometabolic disorder due to serine deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018493 MONDO:0003847 False malignant hyperthermia of anesthesia hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0018493 MONDO:0019119 False malignant hyperthermia of anesthesia muscular channelopathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018494 MONDO:0015159 False microcephaly-short stature-intellectual disability-facial dysmorphism syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018495 MONDO:0019118 False X-linked intellectual disability-limb spasticity-retinal dystrophy-diabetes insipidus syndrome inherited retinal dystrophy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018495 MONDO:0019236 False X-linked intellectual disability-limb spasticity-retinal dystrophy-diabetes insipidus syndrome inborn disorder of purine metabolism UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018498 MONDO:0018089 False double outlet right ventricle with subaortic or doubly committed ventricular septal defect double outlet right ventricle UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018499 MONDO:0018089 False double outlet right ventricle with atrioventricular septal defect, pulmonary stenosis, heterotaxy double outlet right ventricle UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018500 MONDO:0005135 False cutaneous larva migrans parasitic infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018502 MONDO:0003847 False hereditary gastric cancer hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018502 MONDO:0004950 False hereditary gastric cancer gastric carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -28501,53 +27222,95 @@ MONDO:0018503 MONDO:0004950 False carcinoma of stomach, salivary gland type gast MONDO:0018506 MONDO:0004251 False mesenchymal tumor of small intestine small intestine neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018507 MONDO:0002254 False microcephaly-complex motor and sensory axonal neuropathy syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018507 MONDO:0003847 False microcephaly-complex motor and sensory axonal neuropathy syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018507 MONDO:0005071 False microcephaly-complex motor and sensory axonal neuropathy syndrome nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018511 MONDO:0001236 False epithelial tumor of the appendix appendiceal neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018511 MONDO:0024479 False epithelial tumor of the appendix epithelial tumor of colon UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018516 MONDO:0005626 False epithelial tumor of anal canal epithelial neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018516 MONDO:0021118 False epithelial tumor of anal canal intestinal neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018516 MONDO:0024634 False epithelial tumor of anal canal large intestine disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018521 MONDO:0005096 False squamous cell carcinoma of pancreas squamous cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0018521 MONDO:0005192 False squamous cell carcinoma of pancreas exocrine pancreatic carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0018523 MONDO:0002809 False pancreatic mucinous cystadenoma pancreatic cystadenoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0018523 MONDO:0005192 False pancreatic mucinous cystadenoma exocrine pancreatic carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0018523 MONDO:0006859 False pancreatic mucinous cystadenoma mucinous cystadenoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018523 MONDO:0020596 False pancreatic mucinous cystadenoma mucin-producing carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018525 MONDO:0005192 False solid pseudopapillary carcinoma of pancreas exocrine pancreatic carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0018528 MONDO:0100150 False congenital myopathy with myasthenic-like onset RYR1-related myopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018533 MONDO:0005617 False undifferentiated carcinoma of liver and intrahepatic biliary tract undifferentiated carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018533 MONDO:0018531 False undifferentiated carcinoma of liver and intrahepatic biliary tract carcinoma of liver and intrahepatic biliary tract UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018534 MONDO:0005096 False squamous cell carcinoma of liver and intrahepatic biliary tract squamous cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018534 MONDO:0018531 False squamous cell carcinoma of liver and intrahepatic biliary tract carcinoma of liver and intrahepatic biliary tract UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018535 MONDO:0003060 False biliary cystadenocarcinoma biliary tract cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018535 MONDO:0005596 False biliary cystadenocarcinoma cystadenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018535 MONDO:0018531 False biliary cystadenocarcinoma carcinoma of liver and intrahepatic biliary tract UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018536 MONDO:0002665 False adenocarcinoma of gallbladder and extrahepatic biliary tract extrahepatic bile duct adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018536 MONDO:0018918 False adenocarcinoma of gallbladder and extrahepatic biliary tract carcinoma of gallbladder and extrahepatic biliary tract UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018537 MONDO:0006203 False squamous cell carcinoma of gallbladder and extrahepatic biliary tract extrahepatic bile duct squamous cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018537 MONDO:0018918 False squamous cell carcinoma of gallbladder and extrahepatic biliary tract carcinoma of gallbladder and extrahepatic biliary tract UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018540 MONDO:0019751 False PFAPA syndrome autoinflammatory syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018541 MONDO:0015900 False familial hypoaldosteronism hypoaldosteronism disease UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018542 MONDO:0003847 False severe congenital neutropenia hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0018543 MONDO:0000426 False autosomal dominant hypocalcemia autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0018543 MONDO:0005557 False autosomal dominant hypocalcemia calcium metabolic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0018543 MONDO:0016390 False autosomal dominant hypocalcemia familial hypoparathyroidism UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS +MONDO:0018544 MONDO:0000425 False adrenoleukodystrophy X-linked disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0018544 MONDO:0005495 False adrenoleukodystrophy adrenal gland disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0018544 MONDO:0015547 False adrenoleukodystrophy hereditary dementia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018544 MONDO:0100372 False adrenoleukodystrophy disorder of peroxisomal transporter UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018546 MONDO:0005071 False serotonin syndrome nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018547 MONDO:0020683 False acute tricyclic antidepressant poisoning acute disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018547 MONDO:0029000 False acute tricyclic antidepressant poisoning poisoning UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018548 MONDO:0020683 False acute poisoning by drugs with membrane-stabilizing effect acute disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018548 MONDO:0029000 False acute poisoning by drugs with membrane-stabilizing effect poisoning UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018551 MONDO:0018565 False patent urachus congenital urachal anomaly UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018552 MONDO:0018565 False urachal sinus congenital urachal anomaly UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018553 MONDO:0018565 False urachal diverticulum congenital urachal anomaly UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018554 MONDO:0005087 False pulmonary veno-occlusive disease and/or pulmonary capillary haemangiomatosis respiratory system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018554 MONDO:0015924 False pulmonary veno-occlusive disease and/or pulmonary capillary haemangiomatosis pulmonary arterial hypertension UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018555 MONDO:0003847 False hypogonadotropic hypogonadism hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0018556 MONDO:0018215 False Lambert-Eaton myasthenic syndrome paraneoplastic neurologic syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018559 MONDO:0005240 False fetal lower urinary tract obstruction kidney disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018559 MONDO:0019356 False fetal lower urinary tract obstruction urogenital tract malformation UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018561 MONDO:0000088 False precocious puberty in female precocious puberty UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018563 MONDO:0018230 False adactyly of foot skeletal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018563 MONDO:0018234 False adactyly of foot dysostosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018564 MONDO:0016885 False 3p25.3 microdeletion syndrome partial deletion of the short arm of chromosome 3 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018565 MONDO:0002118 False congenital urachal anomaly urinary system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018566 MONDO:0018230 False short stature-advanced bone age-early-onset osteoarthritis syndrome skeletal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018567 MONDO:0011468 False autosomal dominant Charcot-Marie-Tooth disease type 2 due to TFG mutation hereditary motor and sensory neuropathy, Okinawa type UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018567 MONDO:0018993 False autosomal dominant Charcot-Marie-Tooth disease type 2 due to TFG mutation Charcot-Marie-Tooth disease type 2 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018569 MONDO:0002254 False X-linked microcephaly-growth retardation-prognathism-cryptorchidism syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018570 MONDO:0000426 False hypophosphatasia autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0018570 MONDO:0015327 False hypophosphatasia developmental anomaly of metabolic origin UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018570 MONDO:0019052 False hypophosphatasia inborn errors of metabolism UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0018571 MONDO:0015160 False contractures-developmental delay-Pierre Robin syndrome multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018571 MONDO:0016904 False contractures-developmental delay-Pierre Robin syndrome partial deletion of the long arm of chromosome 5 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018572 MONDO:0002254 False severe intellectual disability-hypotonia-strabismus-coarse face-planovalgus syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018572 MONDO:0015159 False severe intellectual disability-hypotonia-strabismus-coarse face-planovalgus syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018573 MONDO:0002254 False intrauterine growth restriction-short stature-early adult-onset diabetes syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018576 MONDO:0016387 False non-progressive predominantly posterior cavitating leukoencephalopathy with peripheral neuropathy mitochondrial oxidative phosphorylation disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018576 MONDO:0019046 False non-progressive predominantly posterior cavitating leukoencephalopathy with peripheral neuropathy leukodystrophy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018576 MONDO:0020127 False non-progressive predominantly posterior cavitating leukoencephalopathy with peripheral neuropathy hereditary peripheral neuropathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018577 MONDO:0002254 False pseudoxanthoma elasticum-like skin manifestations with retinitis pigmentosa syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018577 MONDO:0021154 False pseudoxanthoma elasticum-like skin manifestations with retinitis pigmentosa dermis disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018581 MONDO:0008491 False progressive encephalomyelitis with rigidity and myoclonus stiff-person syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018582 MONDO:0021040 False GCGR-related hyperglucagonemia pancreatic neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018583 MONDO:0005108 False human infection by orthopoxvirus viral infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018585 MONDO:0000473 False pediatric arterial ischemic stroke arterial disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018585 MONDO:0005098 False pediatric arterial ischemic stroke stroke disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018585 MONDO:0005299 False pediatric arterial ischemic stroke brain ischemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018586 MONDO:0019268 False zinc-responsive necrolytic acral erythema epidermal disease UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018587 MONDO:0015923 False non-recovering obstetric brachial plexus lesion acquired peripheral neuropathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018588 MONDO:0019065 False ALECT2 amyloidosis amyloidosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018589 MONDO:0019065 False AApoAIV amyloidosis amyloidosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0018590 MONDO:0019065 False ABeta2M amyloidosis amyloidosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0018591 MONDO:0018634 False ITM2B amyloidosis hereditary amyloidosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018591 MONDO:0024237 False ITM2B amyloidosis inherited neurodegenerative disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018592 MONDO:0018593 False cutaneous polyarteritis nodosa primary polyarteritis nodosa UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018593 MONDO:0019170 False primary polyarteritis nodosa polyarteritis nodosa UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018594 MONDO:0019170 False secondary polyarteritis nodosa polyarteritis nodosa UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018595 MONDO:0018593 False single-organ polyarteritis nodosa primary polyarteritis nodosa UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018596 MONDO:0018593 False systemic polyarteritis nodosa primary polyarteritis nodosa UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018597 MONDO:0005087 False plastic bronchitis respiratory system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018597 MONDO:0005833 False plastic bronchitis lymphatic system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018599 MONDO:0002320 False congenital oculomotor nerve palsy congenital nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -28558,59 +27321,99 @@ MONDO:0018601 MONDO:0003847 False autosomal dominant myopia-midfacial retrusion- MONDO:0018601 MONDO:0005381 False autosomal dominant myopia-midfacial retrusion-sensorineural hearing loss-rhizomelic dysplasia syndrome bone disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018602 MONDO:0005113 False necrotizing soft tissue infection bacterial infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018603 MONDO:0012580 False interstitial lung disease due to SP-C deficiency hereditary pulmonary alveolar proteinosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018605 MONDO:0019214 False disorders of pentose/polyol metabolism inborn carbohydrate metabolic disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018606 MONDO:0002135 False extensive peripapillary myelinated nerve fibers optic nerve disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018606 MONDO:0005328 False extensive peripapillary myelinated nerve fibers eye disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018607 MONDO:0021220 False combined hamartoma of the retina and retinal pigment epithelium eye neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018608 MONDO:0001292 False pure autonomic failure autonomic nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018608 MONDO:0007803 False pure autonomic failure multiple system atrophy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018610 MONDO:0020377 False early-onset posterior subcapsular cataract early-onset partial cataract UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018611 MONDO:0013411 False early-onset lamellar cataract cataract 16 multiple types UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018614 MONDO:0015653 False undetermined early-onset epileptic encephalopathy monogenic epilepsy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018614 MONDO:0019216 False undetermined early-onset epileptic encephalopathy inborn disorder of amino acid transport UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018616 MONDO:0005283 False central serous chorioretinopathy retinal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018614 MONDO:0020070 False undetermined early-onset epileptic encephalopathy neonatal epilepsy syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018614 MONDO:0020071 False undetermined early-onset epileptic encephalopathy infantile epilepsy syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018615 MONDO:0015530 False hemicrania continua trigeminal autonomic cephalalgia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018617 MONDO:0001292 False baroreflex failure autonomic nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018620 MONDO:0005071 False hypothalamic adipsic hypernatraemia syndrome nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018620 MONDO:0005151 False hypothalamic adipsic hypernatraemia syndrome endocrine system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018621 MONDO:0017594 False lymphoplasmacytic lymphoma without IgM production indolent B-cell non-Hodgkin lymphoma UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018623 MONDO:0005485 False postpartum psychosis psychotic disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018623 MONDO:0024575 False postpartum psychosis pregnancy disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018623 MONDO:0044013 False postpartum psychosis puerperal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018624 MONDO:0021146 False spontaneous intracranial hypotension headache disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018625 MONDO:0008491 False classic stiff person syndrome stiff-person syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018626 MONDO:0000827 False paratyphoid fever salmonellosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0018628 MONDO:0017341 False HIV-associated cancer virus associated tumor UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018628 MONDO:0024571 False HIV-associated cancer AIDS-related disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018629 MONDO:0008491 False focal stiff limb syndrome stiff-person syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018630 MONDO:0023113 False hereditary nonpolyposis colon cancer familial colorectal cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018631 MONDO:0003037 False Marie Unna hereditary hypotrichosis hypotrichosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018632 MONDO:0015159 False 11q22.2q22.3 microdeletion syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018632 MONDO:0016910 False 11q22.2q22.3 microdeletion syndrome partial deletion of the long arm of chromosome 11 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018633 MONDO:0015159 False 20q11.2 microdeletion syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018633 MONDO:0016918 False 20q11.2 microdeletion syndrome partial deletion of the long arm of chromosome 20 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018634 MONDO:0019052 False hereditary amyloidosis inborn errors of metabolism UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018634 MONDO:0019065 False hereditary amyloidosis amyloidosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018635 MONDO:0005380 False idiopathic phalangeal acro-osteolysis osteonecrosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018635 MONDO:0700007 False idiopathic phalangeal acro-osteolysis idiopathic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018636 MONDO:0021094 False autoimmune hemolytic anemia-autoimmune thrombocytopenia-primary immunodeficiency syndrome immunodeficiency disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018637 MONDO:0002254 False familial chylomicronemia syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0018638 MONDO:0006510 False pseudohypoaldosteronism renal tubular transport disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0018639 MONDO:0002254 False caudal regression-sirenomelia spectrum syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018639 MONDO:0019054 False caudal regression-sirenomelia spectrum congenital limb malformation UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018640 MONDO:0018882 False secondary vasculitis vasculitis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018642 MONDO:0018814 False NIK deficiency non-SCID combined immunodeficiency UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018643 MONDO:0020573 False susceptibility to localized juvenile periodontitis inherited disease susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018644 MONDO:0015091 False autosomal dominant complex spastic paraplegia type 9B autosomal dominant spastic paraplegia type 9 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018645 MONDO:0000569 False IgG4-related sclerosing cholangitis autoimmune disorder of endocrine system UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018645 MONDO:0000588 False IgG4-related sclerosing cholangitis autoimmune disorder of gastrointestinal tract UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018645 MONDO:0017287 False IgG4-related sclerosing cholangitis IgG4-related disease UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018645 MONDO:0018646 False IgG4-related sclerosing cholangitis sclerosing cholangitis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018647 MONDO:0018646 False secondary sclerosing cholangitis sclerosing cholangitis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018648 MONDO:0021192 False Keratocystic odontogenic tumor odontogenic neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018653 MONDO:0016362 False Polymerase proofreading-related adenomatous polyposis attenuated familial adenomatous polyposis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018654 MONDO:0016105 False idiopathic dropped head syndrome acquired skeletal muscle disease UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018654 MONDO:0700007 False idiopathic dropped head syndrome idiopathic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018655 MONDO:0021147 False hypomyelination-cerebellar atrophy-hypoplasia of the corpus callosum syndrome disorder of development or morphogenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018656 MONDO:0004884 False tremor-ataxia-central hypomyelination syndrome eye degenerative disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018656 MONDO:0024237 False tremor-ataxia-central hypomyelination syndrome inherited neurodegenerative disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018656 MONDO:0100309 False tremor-ataxia-central hypomyelination syndrome hereditary ataxia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018657 MONDO:0006025 False pigmentation defects-palmoplantar keratoderma-skin carcinoma syndrome autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018660 MONDO:0002242 False hemophilia coagulation protein disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018658 MONDO:0015159 False 19p13.3 microduplication syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018658 MONDO:0018659 False 19p13.3 microduplication syndrome partial duplication of the short arm of chromosome 19 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018659 MONDO:0016937 False partial duplication of the short arm of chromosome 19 partial duplication of chromosome 19 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018661 MONDO:0005763 False Zika virus infectious disease Flaviviridae infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018661 MONDO:0100120 False Zika virus infectious disease vector-borne disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018662 MONDO:0006025 False autosomal recessive brachyolmia autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018662 MONDO:0015262 False autosomal recessive brachyolmia brachyolmia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018663 MONDO:0016763 False regressive spondylometaphyseal dysplasia spondylometaphyseal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0018664 MONDO:0019512 False ectopia cordis congenital heart malformation UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018666 MONDO:0007256 False hepatoblastoma hepatocellular carcinoma UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0018667 MONDO:0002037 False pleural empyema pleural disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0018668 MONDO:0002041 False scedosporiosis fungal infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018669 MONDO:0029000 False snakebite envenomation poisoning UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018670 MONDO:0010383 False symptomatic form of fragile X syndrome in female carrier fragile X syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018670 MONDO:0010706 False symptomatic form of fragile X syndrome in female carrier premature ovarian failure 1 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018671 MONDO:0005240 False IgG4-related kidney disease kidney disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018671 MONDO:0017287 False IgG4-related kidney disease IgG4-related disease UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018672 MONDO:0017287 False IgG4-related aortitis IgG4-related disease UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018673 MONDO:0017287 False IgG4-related pachymeningitis IgG4-related disease UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018673 MONDO:0021166 False IgG4-related pachymeningitis inflammatory disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018674 MONDO:0000587 False IgG4-related submandibular gland disease autoimmune disease of ear, nose and throat UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018674 MONDO:0017287 False IgG4-related submandibular gland disease IgG4-related disease UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018675 MONDO:0005328 False IgG4-related ophthalmic disorder eye disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018675 MONDO:0017287 False IgG4-related ophthalmic disorder IgG4-related disease UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018676 MONDO:0000587 False eosinophilic angiocentric fibrosis autoimmune disease of ear, nose and throat UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018677 MONDO:0002254 False visceral heterotaxy syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0018676 MONDO:0017287 False eosinophilic angiocentric fibrosis IgG4-related disease UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018677 MONDO:0003847 False visceral heterotaxy hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0018677 MONDO:0019512 False visceral heterotaxy congenital heart malformation UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018678 MONDO:0005570 False polyclonal hyperviscosity syndrome hematologic disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018679 MONDO:0005093 False primary cutaneous plasmacytosis skin disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018680 MONDO:0005093 False cutaneous pseudolymphoma skin disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018679 MONDO:0017287 False primary cutaneous plasmacytosis IgG4-related disease UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018680 MONDO:0017287 False cutaneous pseudolymphoma IgG4-related disease UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018681 MONDO:0002320 False neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-hip dysplasia syndrome congenital nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018681 MONDO:0015159 False neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-hip dysplasia syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018681 MONDO:0018234 False neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-hip dysplasia syndrome dysostosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018681 MONDO:0700092 False neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-hip dysplasia syndrome neurodevelopmental disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018682 MONDO:0002320 False congenital insensitivity to pain with severe intellectual disability congenital nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018682 MONDO:0003847 False congenital insensitivity to pain with severe intellectual disability hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -28618,61 +27421,101 @@ MONDO:0018684 MONDO:0005310 False idiopathic neonatal atrial flutter atrial flut MONDO:0018684 MONDO:0700007 False idiopathic neonatal atrial flutter idiopathic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018685 MONDO:0007263 False incessant infant ventricular tachycardia cardiac rhythm disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018686 MONDO:0005357 False acquired Creutzfeldt-Jakob disease Creutzfeldt Jacob disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018687 MONDO:0004976 False progressive muscular atrophy amyotrophic lateral sclerosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0018688 MONDO:0019337 False anti-p200 pemphigoid autoimmune bullous skin disease UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018689 MONDO:0004967 False plasma cell leukemia acute lymphoblastic leukemia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0018689 MONDO:0015759 False plasma cell leukemia B-cell non-Hodgkin lymphoma UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018692 MONDO:0005395 False variably protease-sensitive prionopathy movement disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018692 MONDO:0018926 False variably protease-sensitive prionopathy human prion disease UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018694 MONDO:0002567 False isolated tracheo-esophageal fistula tracheal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018694 MONDO:0003749 False isolated tracheo-esophageal fistula esophageal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018695 MONDO:0005812 False avian influenza influenza UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0018696 MONDO:0005395 False corticobasal syndrome movement disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018696 MONDO:0015547 False corticobasal syndrome hereditary dementia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018696 MONDO:0024237 False corticobasal syndrome inherited neurodegenerative disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018697 MONDO:0015159 False 1p35.2 microdeletion syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018697 MONDO:0016883 False 1p35.2 microdeletion syndrome partial deletion of the short arm of chromosome 1 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018698 MONDO:0003847 False hereditary neuroendocrine tumor of small intestine hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018698 MONDO:0018510 False hereditary neuroendocrine tumor of small intestine small intestine neuroendocrine neoplasm UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018702 MONDO:0007179 False Castleman-Kojima disease autoimmune disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018703 MONDO:0021147 False isolated splenogonadal fusion disorder of development or morphogenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018708 MONDO:0000500 False squamous cell carcinoma of the oral tongue tongue squamous cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018705 MONDO:0024237 False infantile-onset axonal motor and sensory neuropathy-optic atrophy-neurodegenerative syndrome inherited neurodegenerative disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018709 MONDO:0020119 False X-linked intellectual disability-hypotonia-movement disorder syndrome X-linked syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018710 MONDO:0014863 False megalencephaly-severe kyphoscoliosis-overgrowth syndrome macrocephaly, dysmorphic facies, and psychomotor retardation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018710 MONDO:0015159 False megalencephaly-severe kyphoscoliosis-overgrowth syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018710 MONDO:0019716 False megalencephaly-severe kyphoscoliosis-overgrowth syndrome overgrowth syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018711 MONDO:0015159 False intellectual disability-muscle weakness-short stature-facial dysmorphism syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018717 MONDO:0002013 False mixed cystic lymphatic malformation lymphangioma UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018724 MONDO:0002320 False X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome congenital nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018724 MONDO:0015159 False X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018724 MONDO:0016761 False X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome spondyloepiphyseal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018724 MONDO:0020022 False X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome central nervous system malformation UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018725 MONDO:0015159 False corpus callosum agenesis-macrocephaly-hypertelorism syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018733 MONDO:0013578 False intellectual disability syndrome due to a DYRK1A point mutation DYRK1A-related intellectual disability syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018735 MONDO:0002013 False multifocal lymphangioendotheliomatosis-thrombocytopenia syndrome lymphangioma UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018736 MONDO:0024296 False kaposiform lymphangiomatosis vascular neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018737 MONDO:8000010 False catastrophic antiphospholipid syndrome antiphospholipid syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018738 MONDO:0002513 False benign metanephric tumor kidney benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018739 MONDO:0001475 False neonatal alloimmune neutropenia neutropenia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018740 MONDO:0001117 False drug-induced methemoglobinemia methemoglobinemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018740 MONDO:0044349 False drug-induced methemoglobinemia acquired hemoglobinopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018741 MONDO:0029000 False paracetamol poisoning poisoning UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018742 MONDO:0015062 False familial gastric type 1 neuroendocrine tumor gastric neuroendocrine tumor, well differentiated, low or intermediate grade UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018744 MONDO:0100342 False oligodendroglial tumor malignant glioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018746 MONDO:0019337 False mucous membrane pemphigoid autoimmune bullous skin disease UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0018747 MONDO:0019337 False acquired epidermolysis bullosa autoimmune bullous skin disease UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0018748 MONDO:0019337 False linear IgA Dermatosis autoimmune bullous skin disease UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018749 MONDO:0017145 False hereditary persistence of fetal hemoglobin-beta-thalassemia syndrome beta-thalassemia and related diseases UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018751 MONDO:0003847 False hereditary otorhinolaryngologic disease hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018751 MONDO:0024623 False hereditary otorhinolaryngologic disease otorhinolaryngologic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018752 MONDO:0005071 False exercise-induced malignant hyperthermia nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018754 MONDO:0029000 False cyanide poisoning poisoning UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018755 MONDO:0029000 False scorpion envenomation poisoning UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018756 MONDO:0007179 False euthyroid Graves orbitopathy autoimmune disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0018757 MONDO:0024623 False supratip dysplasia otorhinolaryngologic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018759 MONDO:0016106 False childhood-onset progressive contractures-limb-girdle weakness-muscle dystrophy syndrome progressive muscular dystrophy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018760 MONDO:0015159 False DeSanto-Shinawi syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018761 MONDO:0000376 False SMARCA4-deficient sarcoma of thorax respiratory system cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0018761 MONDO:0018078 False SMARCA4-deficient sarcoma of thorax soft tissue sarcoma UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018761 MONDO:0020641 False SMARCA4-deficient sarcoma of thorax respiratory tract neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018762 MONDO:0019824 False non-acquired combined pituitary hormone deficiency non-acquired pituitary hormone deficiency UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018763 MONDO:0020022 False tubulinopathy-associated dysgyria central nervous system malformation UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018763 MONDO:0100153 False tubulinopathy-associated dysgyria tubulinopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018764 MONDO:0002254 False microcephalic primordial dwarfism due to RTTN deficiency syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018764 MONDO:0800063 False microcephalic primordial dwarfism due to RTTN deficiency primordial dwarfism and slender bone disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018765 MONDO:0005020 False cryptogenic multifocal ulcerous stenosing enteritis intestinal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018766 MONDO:0005020 False chronic enteropathy associated with SLCO2A1 gene intestinal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018767 MONDO:0011182 False severe primary trimethylaminuria trimethylaminuria UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018768 MONDO:0016168 False familial cold autoinflammatory syndrome cryopyrin-associated periodic syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018769 MONDO:0005707 False isosporiasis coccidiosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0018770 MONDO:0005308 False Jeune syndrome ciliopathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0018770 MONDO:0015461 False Jeune syndrome short rib-polydactyly syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018770 MONDO:0015962 False Jeune syndrome inherited renal tubular disease UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018772 MONDO:0005308 False Joubert syndrome ciliopathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0018772 MONDO:0021147 False Joubert syndrome disorder of development or morphogenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018773 MONDO:0002320 False autosomal dominant distal axonal motor neuropathy-myofibrillar myopathy syndrome congenital nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018773 MONDO:0015362 False autosomal dominant distal axonal motor neuropathy-myofibrillar myopathy syndrome neuronopathy, distal hereditary motor, autosomal dominant UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018773 MONDO:0018943 False autosomal dominant distal axonal motor neuropathy-myofibrillar myopathy syndrome myofibrillar myopathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018774 MONDO:0019270 False erythrokeratodermia-cardiomyopathy syndrome erythrokeratoderma UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018776 MONDO:0015358 False demyelinating hereditary motor and sensory neuropathy hereditary motor and sensory neuropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018776 MONDO:0015626 False demyelinating hereditary motor and sensory neuropathy Charcot-Marie-Tooth disease UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018777 MONDO:0019280 False autosomal dominant preaxial polydactyly-upperback hypertrichosis syndrome hypertrichosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018778 MONDO:0015626 False intermediate Charcot-Marie-Tooth disease Charcot-Marie-Tooth disease UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0018780 MONDO:0002254 False congenital generalized hypercontractile muscle stiffness syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018780 MONDO:0019952 False congenital generalized hypercontractile muscle stiffness syndrome congenital myopathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018780 MONDO:0021147 False congenital generalized hypercontractile muscle stiffness syndrome disorder of development or morphogenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018781 MONDO:0017666 False KID syndrome diffuse palmoplantar keratoderma UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018781 MONDO:0019287 False KID syndrome ectodermal dysplasia syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0018783 MONDO:0005554 False fibroblastic rheumatism rheumatic disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018784 MONDO:0005301 False pediatric multiple sclerosis multiple sclerosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018793 MONDO:0005473 False primary condylar hyperplasia temporomandibular joint disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018794 MONDO:0000009 False cytosolic phospholipase-A2 alpha deficiency associated bleeding disorder inherited bleeding disorder, platelet-type UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0018794 MONDO:0005020 False cytosolic phospholipase-A2 alpha deficiency associated bleeding disorder intestinal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018794 MONDO:0021181 False cytosolic phospholipase-A2 alpha deficiency associated bleeding disorder inherited blood coagulation disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018795 MONDO:0100241 False syndromic constitutional thrombocytopenia inherited thrombocytopenia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018800 MONDO:0002254 False Kallmann syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0018801 MONDO:0003150 False congenital bilateral absence of vas deferens male reproductive system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0018801 MONDO:0003847 False congenital bilateral absence of vas deferens hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0018801 MONDO:0021147 False congenital bilateral absence of vas deferens disorder of development or morphogenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018804 MONDO:0015762 False MYO5B-related progressive familial intrahepatic cholestasis progressive familial intrahepatic cholestasis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018805 MONDO:0002887 False bile duct cyst bile duct disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0018805 MONDO:0003847 False bile duct cyst hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0018805 MONDO:0005154 False bile duct cyst liver disorder UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0018806 MONDO:0004868 False primary intrahepatic lithiasis biliary tract disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -28683,192 +27526,331 @@ MONDO:0018808 MONDO:0003847 False Caroli syndrome hereditary disease UNSUPPORTED MONDO:0018808 MONDO:0004868 False Caroli syndrome biliary tract disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018809 MONDO:0002251 False idiopathic peliosis hepatis hepatitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018809 MONDO:0700007 False idiopathic peliosis hepatis idiopathic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018810 MONDO:0043009 False lethal hydranencephaly-diaphragmatic hernia syndrome hereditary lethal multiple congenital anomalies/dysmorphic syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018811 MONDO:0005385 False congenital portosystemic shunt vascular disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018811 MONDO:0021147 False congenital portosystemic shunt disorder of development or morphogenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018813 MONDO:0017595 False high grade B-cell lymphoma with MYC and/ or BCL2 and/or BCL6 rearrangement aggressive B-cell non-Hodgkin lymphoma UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018814 MONDO:0015131 False non-SCID combined immunodeficiency combined immunodeficiency UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018815 MONDO:0023603 False aneurysmal bone cyst hereditary disorder of connective tissue UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018816 MONDO:0003847 False isolated neonatal sclerosing cholangitis hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018816 MONDO:0018646 False isolated neonatal sclerosing cholangitis sclerosing cholangitis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018818 MONDO:0016218 False facial diplegia with paresthesias Guillain-Barre syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018820 MONDO:0024237 False recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome inherited neurodegenerative disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018821 MONDO:0002254 False X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018822 MONDO:0002320 False global developmental delay-visual anomalies-progressive cerebellar atrophy-truncal hypotonia syndrome congenital nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018822 MONDO:0005328 False global developmental delay-visual anomalies-progressive cerebellar atrophy-truncal hypotonia syndrome eye disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018822 MONDO:0015159 False global developmental delay-visual anomalies-progressive cerebellar atrophy-truncal hypotonia syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018822 MONDO:0020022 False global developmental delay-visual anomalies-progressive cerebellar atrophy-truncal hypotonia syndrome central nervous system malformation UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018823 MONDO:0002320 False X-linked intellectual disability-global development delay-facial dysmorphism-sacral caudal remnant syndrome congenital nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018823 MONDO:0015159 False X-linked intellectual disability-global development delay-facial dysmorphism-sacral caudal remnant syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018823 MONDO:0020119 False X-linked intellectual disability-global development delay-facial dysmorphism-sacral caudal remnant syndrome X-linked syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018824 MONDO:0002922 False pyoderma gangrenosum pyoderma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0018824 MONDO:0019751 False pyoderma gangrenosum autoinflammatory syndrome UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018825 MONDO:0015159 False PYCR2-related microcephaly-progressive leukoencephalopathy multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018826 MONDO:0006702 False Lewis-Sumner syndrome chronic inflammatory demyelinating polyradiculoneuropathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018827 MONDO:0019557 False familial chilblain lupus chilblain lupus UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018827 MONDO:0023603 False familial chilblain lupus hereditary disorder of connective tissue UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018827 MONDO:0100118 False familial chilblain lupus hereditary skin disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018828 MONDO:0002254 False pseudo-TORCH syndrome 2 syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018829 MONDO:0003847 False familial schizencephaly hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018829 MONDO:0010011 False familial schizencephaly schizencephaly UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018829 MONDO:0800461 False familial schizencephaly COL4A1-related disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018830 MONDO:0002052 False Kimura disease lymphadenitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0018830 MONDO:0007179 False Kimura disease autoimmune disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0018832 MONDO:0011057 False HTRA1-related autosomal dominant cerebral small vessel disease cerebrovascular disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018835 MONDO:0005154 False nodular regenerative hyperplasia of the liver liver disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018835 MONDO:0100137 False nodular regenerative hyperplasia of the liver telomere syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018837 MONDO:0018640 False postinfectious vasculitis secondary vasculitis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018837 MONDO:0021669 False postinfectious vasculitis post-infectious disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018838 MONDO:0002320 False lissencephaly spectrum disorders congenital nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0018838 MONDO:0003847 False lissencephaly spectrum disorders hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0018838 MONDO:0021147 False lissencephaly spectrum disorders disorder of development or morphogenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018839 MONDO:0010011 False acquired schizencephaly schizencephaly UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018840 MONDO:0004868 False isolated congenital hepatic fibrosis biliary tract disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018840 MONDO:0007329 False isolated congenital hepatic fibrosis cirrhosis, familial UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018841 MONDO:0005523 False congenital bile acid synthesis defect steroid inherited metabolic disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0018842 MONDO:0015157 False primary effusion lymphoma human herpesvirus 8-related tumor UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018842 MONDO:0017343 False primary effusion lymphoma Epstein-Barr virus-associated malignant lymphoproliferative disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018844 MONDO:0018565 False urachal cyst congenital urachal anomaly UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018845 MONDO:0020122 False focal myositis acquired idiopathic inflammatory myopathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018846 MONDO:0020040 False penile agenesis 46,XY disorder of sex development UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018847 MONDO:0100298 False omphalomesenteric cyst abdominal wall malformation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018848 MONDO:0017287 False IgG4-related retroperitoneal fibrosis IgG4-related disease UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018849 MONDO:0006999 False dentinogenesis imperfecta tooth disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0018851 MONDO:0002527 False familial keratoacanthoma keratoacanthoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018851 MONDO:0100118 False familial keratoacanthoma hereditary skin disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018852 MONDO:0001703 False achromatopsia color vision disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0018852 MONDO:0005283 False achromatopsia retinal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0018853 MONDO:0017851 False transgrediens et progrediens palmoplantar keratoderma erythrokeratodermia variabilis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018854 MONDO:0000809 False acquired purpura fulminans purpura fulminans UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018854 MONDO:0000831 False acquired purpura fulminans thrombotic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018855 MONDO:0019268 False keratosis pilaris atrophicans epidermal disease UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018855 MONDO:0021036 False keratosis pilaris atrophicans keratosis pilaris UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018855 MONDO:0100118 False keratosis pilaris atrophicans hereditary skin disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018856 MONDO:0015301 False lichen amyloidosis primary cutaneous amyloidosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018857 MONDO:0020568 False creeping myiasis cutaneous myiasis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018858 MONDO:0004907 False Graham Little-Piccardi-Lassueur syndrome alopecia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018860 MONDO:0002254 False microlissencephaly-micromelia syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018864 MONDO:0002052 False Kikuchi-Fujimoto disease lymphadenitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018861 MONDO:0016387 False Zellweger-like syndrome without peroxisomal anomalies mitochondrial oxidative phosphorylation disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018865 MONDO:0017672 False striate palmoplantar keratoderma focal palmoplantar keratoderma UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018866 MONDO:0002254 False Aicardi-Goutieres syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0018866 MONDO:0003778 False Aicardi-Goutieres syndrome inborn error of immunity UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0018866 MONDO:0006025 False Aicardi-Goutieres syndrome autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0018866 MONDO:0019046 False Aicardi-Goutieres syndrome leukodystrophy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS +MONDO:0018868 MONDO:0015547 False metachromatic leukodystrophy hereditary dementia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018868 MONDO:0020127 False metachromatic leukodystrophy hereditary peripheral neuropathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018869 MONDO:0018838 False cobblestone lissencephaly lissencephaly spectrum disorders UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018870 MONDO:0003847 False arterial calcification of infancy hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0018870 MONDO:0005385 False arterial calcification of infancy vascular disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0018873 MONDO:0015923 False anterior cutaneous nerve entrapment syndrome acquired peripheral neuropathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018875 MONDO:0000426 False Li-Fraumeni syndrome autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0018875 MONDO:0005071 False Li-Fraumeni syndrome nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0018877 MONDO:0007639 False retinitis punctata albescens fundus albipunctatus UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018878 MONDO:0002254 False branchiootic syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0018878 MONDO:0015161 False branchiootic syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018879 MONDO:0004907 False lichen planopilaris alopecia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018881 MONDO:0015756 False myelodysplastic syndrome myeloid hemopathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018882 MONDO:0021166 False vasculitis inflammatory disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018883 MONDO:0020087 False Berardinelli-Seip congenital lipodystrophy hereditary lipodystrophy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018883 MONDO:0021147 False Berardinelli-Seip congenital lipodystrophy disorder of development or morphogenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018884 MONDO:0019296 False Roch-Leri mesosomatous lipomatosis subcutaneous tissue disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018885 MONDO:0021220 False orbital leiomyoma eye neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018889 MONDO:0002320 False hyaline body myopathy congenital nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0018889 MONDO:0016195 False hyaline body myopathy qualitative or quantitative defects of beta-myosin heavy chain (MYH7) UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018889 MONDO:0019952 False hyaline body myopathy congenital myopathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0018890 MONDO:0019810 False Lyell syndrome toxic epidermal necrolysis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018891 MONDO:0002051 False familial tumoral calcinosis integumentary system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018891 MONDO:0002082 False familial tumoral calcinosis endocrine gland neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018891 MONDO:0002123 False familial tumoral calcinosis calcinosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018892 MONDO:0003110 False Wyburn-Mason syndrome skin hemangioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018892 MONDO:0015405 False Wyburn-Mason syndrome cerebrofacial arteriovenous metameric syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018892 MONDO:0019293 False Wyburn-Mason syndrome skin vascular disease UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018892 MONDO:0021605 False Wyburn-Mason syndrome benign eyelid neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018892 MONDO:0042983 False Wyburn-Mason syndrome neurocutaneous syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018892 MONDO:0043218 False Wyburn-Mason syndrome neurovascular disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018893 MONDO:0001256 False Cobb syndrome arteriovenous hemangioma/malformation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018893 MONDO:0003110 False Cobb syndrome skin hemangioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018893 MONDO:0015356 False Cobb syndrome hereditary neoplastic syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018893 MONDO:0019293 False Cobb syndrome skin vascular disease UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018893 MONDO:0100118 False Cobb syndrome hereditary skin disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018895 MONDO:0002254 False Plummer-Vinson syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018896 MONDO:0043768 False thrombotic thrombocytopenic purpura thrombocytopenic purpura UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018894 MONDO:0020127 False distal hereditary motor neuropathy hereditary peripheral neuropathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018894 MONDO:0024257 False distal hereditary motor neuropathy hereditary motor neuron disease UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018895 MONDO:0016625 False Plummer-Vinson syndrome acquired deficiency anemia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018896 MONDO:0002305 False thrombotic thrombocytopenic purpura thrombophilia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0018897 MONDO:0015816 False primary cutaneous CD30+ T-cell lymphoproliferative disease indolent primary cutaneous T-cell lymphoma UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018899 MONDO:0015547 False posterior cortical atrophy hereditary dementia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018899 MONDO:0024237 False posterior cortical atrophy inherited neurodegenerative disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018900 MONDO:0005093 False corticosteroid-sensitive aseptic abscess syndrome skin disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018901 MONDO:0002254 False left ventricular noncompaction syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0018901 MONDO:0000591 False left ventricular noncompaction intrinsic cardiomyopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0018901 MONDO:0005217 False left ventricular noncompaction familial cardiomyopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018901 MONDO:0005453 False left ventricular noncompaction congenital heart disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0018902 MONDO:0000627 False hepatocellular adenoma benign endocrine neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0018902 MONDO:0036976 False hepatocellular adenoma benign epithelial neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018903 MONDO:0005707 False sarcocystosis coccidiosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0018904 MONDO:0002462 False primary membranoproliferative glomerulonephritis glomerulonephritis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018905 MONDO:0017595 False diffuse large B-cell lymphoma aggressive B-cell non-Hodgkin lymphoma UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018906 MONDO:0017594 False follicular lymphoma indolent B-cell non-Hodgkin lymphoma UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018907 MONDO:0000628 False craniopharyngioma central nervous system organ benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0018907 MONDO:0000631 False craniopharyngioma bone benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0018907 MONDO:0023369 False craniopharyngioma disorder of facial skeleton UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018910 MONDO:0018134 False oculocutaneous albinism disorder of melanin metabolism UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018910 MONDO:0019290 False oculocutaneous albinism hypopigmentation of the skin UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018910 MONDO:0100118 False oculocutaneous albinism hereditary skin disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018911 MONDO:0015967 False maturity-onset diabetes of the young monogenic diabetes UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018911 MONDO:0017688 False maturity-onset diabetes of the young disorder of glycolysis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018912 MONDO:0002254 False Cushing syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018912 MONDO:0005495 False Cushing syndrome adrenal gland disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018913 MONDO:0005020 False malakoplakia intestinal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018914 MONDO:0004907 False hypotrichosis simplex alopecia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018918 MONDO:0021385 False carcinoma of gallbladder and extrahepatic biliary tract extrahepatic bile duct neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018919 MONDO:0018230 False McCune-Albright syndrome skeletal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018920 MONDO:0016338 False peripartum cardiomyopathy non-familial dilated cardiomyopathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018920 MONDO:0024575 False peripartum cardiomyopathy pregnancy disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018921 MONDO:0005308 False Meckel syndrome ciliopathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0018921 MONDO:0043009 False Meckel syndrome hereditary lethal multiple congenital anomalies/dysmorphic syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018922 MONDO:0016450 False cold agglutinin disease autoimmune hemolytic anemia, cold type UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018923 MONDO:0002320 False 22q11.2 deletion syndrome congenital nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018923 MONDO:0005046 False 22q11.2 deletion syndrome immune system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018923 MONDO:0005267 False 22q11.2 deletion syndrome heart disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018923 MONDO:0015160 False 22q11.2 deletion syndrome multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018923 MONDO:0022760 False 22q11.2 deletion syndrome chromosome 22q deletion UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018924 MONDO:0016073 False microphthalmia, Lenz type syndromic microphthalmia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018925 MONDO:0005475 False familial or sporadic hemiplegic migraine migraine with aura UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018926 MONDO:0005559 False human prion disease neurodegenerative disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018926 MONDO:0024619 False human prion disease central nervous system infectious disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018927 MONDO:0002254 False SUNCT syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018927 MONDO:0015530 False SUNCT syndrome trigeminal autonomic cephalalgia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018929 MONDO:0018381 False medial condensing osteitis of the clavicle osteochondrosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018930 MONDO:0700124 False monosomy 21 chromosome 21 disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018931 MONDO:0031422 False mucolipidosis type III, alpha/beta familial mucolipidosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0018931 MONDO:0100122 False mucolipidosis type III, alpha/beta GNPTAB-mucolipidosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018931 MONDO:0800088 False mucolipidosis type III, alpha/beta lysosomal storage disease with skeletal involvement UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018932 MONDO:0016330 False cirrhotic cardiomyopathy non-familial hypertrophic cardiomyopathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018932 MONDO:0016338 False cirrhotic cardiomyopathy non-familial dilated cardiomyopathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018933 MONDO:0003847 False Mazabraud syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018933 MONDO:0006424 False Mazabraud syndrome soft tissue neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018937 MONDO:0002254 False mucopolysaccharidosis type 3 syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0018935 MONDO:0004948 False hairy cell leukemia B-cell chronic lymphocytic leukemia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0018937 MONDO:0005381 False mucopolysaccharidosis type 3 bone disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0018938 MONDO:0002254 False mucopolysaccharidosis type 4 syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0018938 MONDO:0005328 False mucopolysaccharidosis type 4 eye disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0018938 MONDO:0005381 False mucopolysaccharidosis type 4 bone disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0018940 MONDO:0002254 False congenital myasthenic syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0018939 MONDO:0019950 False muscle-eye-brain disease congenital muscular dystrophy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018940 MONDO:0003847 False congenital myasthenic syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0018940 MONDO:0020124 False congenital myasthenic syndrome neuromuscular junction disease UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0018941 MONDO:0020568 False furuncular myiasis cutaneous myiasis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018942 MONDO:0016105 False macrophagic myofasciitis acquired skeletal muscle disease UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018943 MONDO:0002921 False myofibrillar myopathy congenital structural myopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0018944 MONDO:0024575 False gestational trophoblastic neoplasm pregnancy disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018945 MONDO:0016987 False McLeod neuroacanthocytosis syndrome neuroacanthocytosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0018946 MONDO:0020022 False rhombencephalosynapsis central nervous system malformation UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018947 MONDO:0019952 False centronuclear myopathy congenital myopathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS MONDO:0018948 MONDO:0003847 False multiminicore myopathy hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0018948 MONDO:0016197 False multiminicore myopathy qualitative or quantitative defects of selenoprotein N1 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018950 MONDO:0019215 False 3-methylcrotonyl-CoA carboxylase deficiency classic organic aciduria UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018951 MONDO:0016108 False distal myopathy with vocal cord weakness autosomal dominant distal myopathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018952 MONDO:0029000 False argyria poisoning UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018953 MONDO:0018075 False parietal foramina neural tube defect UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0018953 MONDO:0018230 False parietal foramina skeletal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018954 MONDO:0000426 False Loeys-Dietz syndrome autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0018954 MONDO:0005385 False Loeys-Dietz syndrome vascular disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0018954 MONDO:0017310 False Loeys-Dietz syndrome Marfan and Marfan-related disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018955 MONDO:0005087 False recurrent respiratory papillomatosis respiratory system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018955 MONDO:0005586 False recurrent respiratory papillomatosis head and neck neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018955 MONDO:0024623 False recurrent respiratory papillomatosis otorhinolaryngologic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018956 MONDO:0004822 False idiopathic bronchiectasis bronchiectasis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018956 MONDO:0700007 False idiopathic bronchiectasis idiopathic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018957 MONDO:0015923 False pudendal neuralgia acquired peripheral neuropathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018957 MONDO:0021667 False pudendal neuralgia neuralgia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018958 MONDO:0002921 False nemaline myopathy congenital structural myopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0018959 MONDO:0016120 False potassium-aggravated myotonia myotonic syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018959 MONDO:0700223 False potassium-aggravated myotonia hereditary skeletal muscle disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018959 MONDO:0800468 False potassium-aggravated myotonia SCN4A-related channelopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018960 MONDO:0005240 False congenital primary megaureter kidney disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018960 MONDO:0021147 False congenital primary megaureter disorder of development or morphogenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018961 MONDO:0003847 False familial melanoma hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0018962 MONDO:0004335 False common mesentery digestive system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018963 MONDO:0001117 False hereditary methemoglobinemia methemoglobinemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018963 MONDO:0002280 False hereditary methemoglobinemia anemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018963 MONDO:0019050 False hereditary methemoglobinemia inherited hemoglobinopathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018964 MONDO:0004737 False homocystinuria without methylmalonic aciduria homocystinuria UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018964 MONDO:0006025 False homocystinuria without methylmalonic aciduria autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018964 MONDO:0016624 False homocystinuria without methylmalonic aciduria inherited deficiency anemia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018964 MONDO:0019220 False homocystinuria without methylmalonic aciduria inborn disorder of cobalamin metabolism and transport UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018965 MONDO:0005334 False Alport syndrome hereditary nephritis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018967 MONDO:0001902 False short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia congenital agammaglobulinemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018969 MONDO:0002320 False craniorachischisis congenital nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018967 MONDO:0010615 False short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia isolated growth hormone deficiency type III UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018969 MONDO:0021147 False craniorachischisis disorder of development or morphogenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018971 MONDO:0015337 False isolated oxycephaly isolated craniosynostosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018973 MONDO:0020242 False patterned dystrophy of the retinal pigment epithelium hereditary macular dystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018974 MONDO:0019337 False paraneoplastic pemphigus autoimmune bullous skin disease UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0018974 MONDO:0021073 False paraneoplastic pemphigus paraneoplastic syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018975 MONDO:0019755 False neurofibromatosis type 1 developmental defect during embryogenesis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018975 MONDO:0021635 False neurofibromatosis type 1 neurocristopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018976 MONDO:0002254 False schisis association syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018977 MONDO:0015923 False polyneuropathy associated with IgM monoclonal gammapathy with anti-MAG acquired peripheral neuropathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018978 MONDO:0005087 False IgG4-related mediastinitis respiratory system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018978 MONDO:0017287 False IgG4-related mediastinitis IgG4-related disease UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018979 MONDO:0015923 False multifocal motor neuropathy acquired peripheral neuropathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018980 MONDO:0018237 False acrofacial dysostosis, Kennedy-Teebi type acrofacial dysostosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018981 MONDO:0005579 False benign idiopathic neonatal seizures epilepsy, idiopathic generalized UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018981 MONDO:0020070 False benign idiopathic neonatal seizures neonatal epilepsy syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018982 MONDO:0001982 False Niemann-Pick disease type C Niemann-Pick disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018982 MONDO:0006025 False Niemann-Pick disease type C autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018983 MONDO:0002254 False Tolosa-Hunt syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0018983 MONDO:0001584 False Tolosa-Hunt syndrome ocular motility disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0018983 MONDO:0015083 False Tolosa-Hunt syndrome nuclear oculomotor paralysis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018987 MONDO:0002263 False granulomatous mastitis female reproductive system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018988 MONDO:0002254 False iridocorneal endothelial syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018989 MONDO:0002356 False recurrent acute pancreatitis pancreas disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018989 MONDO:0020683 False recurrent acute pancreatitis acute disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018991 MONDO:0005154 False hepatoportal sclerosis liver disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018992 MONDO:0005623 False IgG4-related thyroid disease autoimmune thyroid disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018992 MONDO:0017287 False IgG4-related thyroid disease IgG4-related disease UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0018993 MONDO:0015626 False Charcot-Marie-Tooth disease type 2 Charcot-Marie-Tooth disease UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0018994 MONDO:0000425 False Charcot-Marie-Tooth disease type X X-linked disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0018994 MONDO:0015626 False Charcot-Marie-Tooth disease type X Charcot-Marie-Tooth disease UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0018995 MONDO:0015626 False Charcot-Marie-Tooth disease type 4 Charcot-Marie-Tooth disease UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0018996 MONDO:0020127 False spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 hereditary peripheral neuropathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018997 MONDO:0015160 False Noonan syndrome multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018997 MONDO:0019313 False Noonan syndrome lymphatic malformation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS +MONDO:0018997 MONDO:0020297 False Noonan syndrome Noonan syndrome and Noonan-related syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018998 MONDO:0002320 False Leber congenital amaurosis congenital nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0018998 MONDO:0019118 False Leber congenital amaurosis inherited retinal dystrophy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0018999 MONDO:0017773 False LCAT deficiency hypoalphalipoproteinemia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019000 MONDO:0005071 False perineural cyst nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019002 MONDO:0020022 False Lhermitte-Duclos disease central nervous system malformation UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019003 MONDO:0015075 False multiple endocrine neoplasia type 2 thyroid gland carcinoma UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019005 MONDO:0006025 False nephronophthisis autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0019005 MONDO:0015962 False nephronophthisis inherited renal tubular disease UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019006 MONDO:0002350 False familial idiopathic steroid-resistant nephrotic syndrome familial nephrotic syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019006 MONDO:0018170 False familial idiopathic steroid-resistant nephrotic syndrome idiopathic nephrotic syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019006 MONDO:0044765 False familial idiopathic steroid-resistant nephrotic syndrome steroid-resistant nephrotic syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019007 MONDO:0002263 False vaginal atresia female reproductive system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019007 MONDO:0021147 False vaginal atresia disorder of development or morphogenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019008 MONDO:0017290 False benign recurrent intrahepatic cholestasis familial intrahepatic cholestasis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019008 MONDO:0017755 False benign recurrent intrahepatic cholestasis inborn disorder of bilirubin metabolism UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019009 MONDO:0017094 False isolated focal cortical dysplasia cerebral cortical dysplasia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019009 MONDO:0100283 False isolated focal cortical dysplasia overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019010 MONDO:0007834 False congenital isolated hyperinsulinism islet cell adenomatosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019010 MONDO:0017182 False congenital isolated hyperinsulinism familial hyperinsulinism UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019010 MONDO:0019716 False congenital isolated hyperinsulinism overgrowth syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019011 MONDO:0015626 False Charcot-Marie-Tooth disease type 1 Charcot-Marie-Tooth disease UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0019012 MONDO:0000078 False Carpenter syndrome acrocephalopolysyndactyly UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019012 MONDO:0015160 False Carpenter syndrome multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019013 MONDO:0006526 False non-histaminic angioedema allergic urticaria UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019013 MONDO:0019623 False non-histaminic angioedema hereditary angioedema UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019015 MONDO:0100298 False omphalocele abdominal wall malformation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019016 MONDO:0009637 False maternally-inherited progressive external ophthalmoplegia inborn mitochondrial myopathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019016 MONDO:0016387 False maternally-inherited progressive external ophthalmoplegia mitochondrial oxidative phosphorylation disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019016 MONDO:0024458 False maternally-inherited progressive external ophthalmoplegia disorder of visual system UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019017 MONDO:0002254 False short fifth metacarpals-insulin resistance syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019019 MONDO:0003847 False osteogenesis imperfecta hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0019019 MONDO:0005516 False osteogenesis imperfecta osteochondrodysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0019020 MONDO:0002977 False PANDAS autoimmune disorder of the nervous system UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019022 MONDO:0005395 False sensorineural hearing loss-early graying-essential tremor syndrome movement disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019023 MONDO:0002300 False cutaneous mastocytosis dermis tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0019023 MONDO:0005492 False cutaneous mastocytosis urticaria UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0019023 MONDO:0100118 False cutaneous mastocytosis hereditary skin disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019024 MONDO:0000621 False mast cell sarcoma immune system cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0019024 MONDO:0005089 False mast cell sarcoma sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0019025 MONDO:0016586 False extracutaneous mastocytoma systemic mastocytosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0019026 MONDO:0006025 False autosomal recessive osteopetrosis autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019026 MONDO:0020249 False autosomal recessive osteopetrosis hereditary optic neuropathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019027 MONDO:0018233 False otopalatodigital syndrome otopalatodigital syndrome spectrum disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019028 MONDO:0005135 False amoebiasis due to Entamoeba histolytica parasitic infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019029 MONDO:0005497 False segmental odontomaxillary dysplasia bone development disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019031 MONDO:0010308 False thrombocytopenia with congenital dyserythropoietic anemia thrombocytopenia, X-linked, with or without dyserythropoietic anemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019031 MONDO:0019403 False thrombocytopenia with congenital dyserythropoietic anemia congenital dyserythropoietic anemia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019031 MONDO:0100089 False thrombocytopenia with congenital dyserythropoietic anemia GATA1-Related X-Linked Cytopenia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019032 MONDO:0020119 False X-linked intellectual disability with isolated growth hormone deficiency X-linked syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019033 MONDO:0021154 False primary cutis verticis gyrata dermis disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019034 MONDO:0002356 False accessory pancreas pancreas disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019036 MONDO:0005135 False amoebiasis due to free-living amoebae parasitic infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019037 MONDO:0002254 False progressive supranuclear palsy syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0019037 MONDO:0005559 False progressive supranuclear palsy neurodegenerative disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0019037 MONDO:0005395 False progressive supranuclear palsy movement disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0019037 MONDO:0020257 False progressive supranuclear palsy supranuclear oculomotor palsy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019040 MONDO:0700096 False chromosomal disorder human disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019042 MONDO:0019755 False multiple congenital anomalies/dysmorphic syndrome developmental defect during embryogenesis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019046 MONDO:0024237 False leukodystrophy inherited neurodegenerative disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019050 MONDO:0003847 False inherited hemoglobinopathy hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0019050 MONDO:0044348 False inherited hemoglobinopathy hemoglobinopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019052 MONDO:0003847 False inborn errors of metabolism hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0019053 MONDO:0015653 False peroxisomal disease monogenic epilepsy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019053 MONDO:0100033 False peroxisomal disease metabolic epilepsy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019054 MONDO:0019755 False congenital limb malformation developmental defect during embryogenesis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019056 MONDO:0005071 False neuromuscular disease nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0019060 MONDO:0005381 False bone neoplasm bone disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019060 MONDO:0021581 False bone neoplasm connective tissue neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019064 MONDO:0003757 False hereditary spastic paraplegia paraplegia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0019064 MONDO:0024237 False hereditary spastic paraplegia inherited neurodegenerative disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019065 MONDO:0021179 False amyloidosis proteostasis deficiencies UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019067 MONDO:0018170 False idiopathic steroid-sensitive nephrotic syndrome idiopathic nephrotic syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019068 MONDO:0019722 False congenital membranous nephropathy due to maternal anti-neutral endopeptidase alloimmunization glomerular disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019071 MONDO:0019287 False pure hair and nail ectodermal dysplasia ectodermal dysplasia syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0019072 MONDO:0001751 False intrahepatic cholestasis cholestasis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0019073 MONDO:0007670 False hypotrichosis-lymphedema-telangiectasia-renal defect syndrome hypotrichosis-lymphedema-telangiectasia syndrome (grouping) UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019073 MONDO:0019313 False hypotrichosis-lymphedema-telangiectasia-renal defect syndrome lymphatic malformation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS +MONDO:0019074 MONDO:0011119 False bilateral acute depigmentation of the iris iridogoniodysgenesis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019074 MONDO:0020683 False bilateral acute depigmentation of the iris acute disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019075 MONDO:0011099 False Bosley-Salih-Alorainy syndrome human HOXA1 syndromes UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019075 MONDO:0015160 False Bosley-Salih-Alorainy syndrome multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019076 MONDO:0019287 False circumscribed palmoplantar hypokeratosis ectodermal dysplasia syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019078 MONDO:0002320 False Ritscher-Schinzel syndrome congenital nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0019078 MONDO:0003847 False Ritscher-Schinzel syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0019078 MONDO:0015159 False Ritscher-Schinzel syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019078 MONDO:0020022 False Ritscher-Schinzel syndrome central nervous system malformation UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019079 MONDO:0001516 False proximal spinal muscular atrophy spinal muscular atrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019079 MONDO:0020127 False proximal spinal muscular atrophy hereditary peripheral neuropathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019079 MONDO:0024257 False proximal spinal muscular atrophy hereditary motor neuron disease UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019080 MONDO:0004907 False alopecia totalis alopecia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019082 MONDO:0019337 False bullous pemphigoid autoimmune bullous skin disease UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0019083 MONDO:0009723 False Leigh syndrome with cardiomyopathy Leigh syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019084 MONDO:0005538 False radiation proctitis proctitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019085 MONDO:0005328 False vernal keratoconjunctivitis eye disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -28878,173 +27860,336 @@ MONDO:0019091 MONDO:0021147 False bronchopulmonary dysplasia disorder of develop MONDO:0019092 MONDO:0005087 False infantile apnea respiratory system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019093 MONDO:0021094 False immunodeficiency due to selective anti-polysaccharide antibody deficiency immunodeficiency disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019094 MONDO:0005108 False congenital Epstein-Barr virus infection viral infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019094 MONDO:0016511 False congenital Epstein-Barr virus infection infectious embryofetopathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019095 MONDO:0000314 False plague primary bacterial infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0019095 MONDO:0007023 False plague Yersinia infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019095 MONDO:0100120 False plague vector-borne disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019098 MONDO:0002049 False autoimmune thrombocytopenia thrombocytopenia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019098 MONDO:0007179 False autoimmune thrombocytopenia autoimmune disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019100 MONDO:0005071 False neuromyelitis optica nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0019100 MONDO:0044685 False neuromyelitis optica autoimmune/inflammatory optic neuropathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019101 MONDO:0020247 False retinal capillary malformation congenital vitreoretinal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019101 MONDO:0021231 False retinal capillary malformation retina neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019101 MONDO:0024296 False retinal capillary malformation vascular neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019102 MONDO:0021147 False dentinogenesis imperfecta-short stature-hearing loss-intellectual disability syndrome disorder of development or morphogenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019103 MONDO:0002254 False benign exophthalmos syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019104 MONDO:0002254 False Sandifer syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019104 MONDO:0005395 False Sandifer syndrome movement disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019105 MONDO:0005240 False renal nutcracker syndrome kidney disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019107 MONDO:0003689 False Rh deficiency syndrome familial hemolytic anemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0019107 MONDO:0020102 False Rh deficiency syndrome hereditary stomatocytosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019108 MONDO:0024623 False silent sinus syndrome otorhinolaryngologic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019109 MONDO:0015923 False CANOMAD syndrome acquired peripheral neuropathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019111 MONDO:0002249 False familial thrombocytosis thrombocytosis disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019111 MONDO:0003847 False familial thrombocytosis hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019112 MONDO:0005283 False cancer-associated retinopathy retinal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019112 MONDO:0018215 False cancer-associated retinopathy paraneoplastic neurologic syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019113 MONDO:0016058 False benign paroxysmal torticollis of infancy paroxysmal dystonia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019114 MONDO:0005395 False psychogenic movement disorders movement disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019115 MONDO:0019182 False obesity due to melanocortin 4 receptor deficiency inherited obesity UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019118 MONDO:0003847 False inherited retinal dystrophy hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0019118 MONDO:0004580 False inherited retinal dystrophy retinal degeneration UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0019118 MONDO:0024417 False inherited retinal dystrophy perceptual disorders UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019121 MONDO:0005249 False pneumocystosis pneumonia UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0019119 MONDO:0019056 False muscular channelopathy neuromuscular disease UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019120 MONDO:0019278 False pili bifurcati hair anomaly UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019121 MONDO:0002312 False pneumocystosis opportunistic mycosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0019121 MONDO:0005766 False pneumocystosis fungal lung infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019121 MONDO:0005923 False pneumocystosis Pneumocystis infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019122 MONDO:0004802 False idiopathic acute eosinophilic pneumonia pulmonary eosinophilia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0019122 MONDO:0011895 False idiopathic acute eosinophilic pneumonia idiopathic hypereosinophilic syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019122 MONDO:0015927 False idiopathic acute eosinophilic pneumonia idiopathic eosinophilic pneumonia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019122 MONDO:0020683 False idiopathic acute eosinophilic pneumonia acute disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019123 MONDO:0009509 False continuous spikes and waves during sleep Landau-Kleffner syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019124 MONDO:0043494 False microscopic polyangiitis arteritis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019124 MONDO:0015492 False microscopic polyangiitis anti-neutrophil cytoplasmic antibody-associated vasculitis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019125 MONDO:0002342 False relapsing polychondritis chondromalacia UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0019127 MONDO:0020122 False polymyositis acquired idiopathic inflammatory myopathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019128 MONDO:0002263 False mullerian aplasia female reproductive system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019129 MONDO:0002254 False global developmental delay-osteopenia-ectodermal defect syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019130 MONDO:0002254 False tubular renal disease-cardiomyopathy syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019131 MONDO:0015929 False ossification anomalies-psychomotor developmental delay syndrome thoracic malformation UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019132 MONDO:0020022 False spinal muscular atrophy-Dandy-Walker malformation-cataracts syndrome central nervous system malformation UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019133 MONDO:0015159 False visceral neuropathy-brain anomalies-facial dysmorphism-developmental delay syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019136 MONDO:0002312 False Zygomycosis opportunistic mycosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0019139 MONDO:0002243 False acquired hemophilia hemorrhagic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019139 MONDO:0018660 False acquired hemophilia hemophilia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019139 MONDO:0020599 False acquired hemophilia acquired coagulation factor deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019140 MONDO:0020683 False acute ackee fruit intoxication acute disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019140 MONDO:0029000 False acute ackee fruit intoxication poisoning UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019141 MONDO:0006602 False porokeratosis of Mibelli porokeratosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019142 MONDO:0015951 False inherited porphyria hereditary photodermatosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019142 MONDO:0017754 False inherited porphyria inborn disorder of porphyrin metabolism UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019142 MONDO:0037939 False inherited porphyria porphyria UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019143 MONDO:0004664 False angiostrongyliasis helminthiasis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0019144 MONDO:0002304 False hereditary thrombophilia due to congenital protein S deficiency protein S deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0019144 MONDO:0100240 False hereditary thrombophilia due to congenital protein S deficiency inherited thrombophilia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019145 MONDO:0100240 False hereditary thrombophilia due to congenital protein C deficiency inherited thrombophilia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019146 MONDO:0015979 False inherited susceptibility to mycobacterial diseases hereditary predisposition to infections UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019147 MONDO:0002875 False myiasis parasitic ectoparasitic infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0019148 MONDO:0800449 False Wolman disease lysosomal acid lipase deficiency UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS +MONDO:0019149 MONDO:0800449 False cholesteryl ester storage disease lysosomal acid lipase deficiency UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS +MONDO:0019151 MONDO:0019118 False oligocone trichromacy inherited retinal dystrophy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019152 MONDO:0019118 False Oguchi disease inherited retinal dystrophy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019153 MONDO:0015159 False brain malformation-congenital heart disease-postaxial polydactyly syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019154 MONDO:0003847 False androgen insensitivity syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0019154 MONDO:0020040 False androgen insensitivity syndrome 46,XY disorder of sex development UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019155 MONDO:0005151 False Leydig cell hypoplasia endocrine system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0019156 MONDO:0002254 False angioosteohypotrophic syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019156 MONDO:0005497 False angioosteohypotrophic syndrome bone development disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019157 MONDO:0015194 False myelodysplastic syndrome with ring sideroblasts sideroblastic anemia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019157 MONDO:0700007 False myelodysplastic syndrome with ring sideroblasts idiopathic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019158 MONDO:0016345 False tropical endomyocardial fibrosis non-familial restrictive cardiomyopathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019159 MONDO:0016345 False Loeffler endocarditis non-familial restrictive cardiomyopathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019160 MONDO:0005559 False primary progressive freezing gait neurodegenerative disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019160 MONDO:0021095 False primary progressive freezing gait parkinsonian disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019161 MONDO:0015962 False pseudohypoaldosteronism type 1 inherited renal tubular disease UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019161 MONDO:0100323 False pseudohypoaldosteronism type 1 inherited pseudohypoaldosteronism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019162 MONDO:0100323 False pseudohypoaldosteronism type 2 inherited pseudohypoaldosteronism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019164 MONDO:0002254 False 6q terminal deletion syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019164 MONDO:0016905 False 6q terminal deletion syndrome partial deletion of the long arm of chromosome 6 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019165 MONDO:0000088 False central precocious puberty precocious puberty UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019165 MONDO:0003847 False central precocious puberty hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0019167 MONDO:0006794 False immunoglobulin A vasculitis hypersensitivity vasculitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0019167 MONDO:0015491 False immunoglobulin A vasculitis immune complex mediated vasculitis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019167 MONDO:0800113 False immunoglobulin A vasculitis necrotizing vasculitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019168 MONDO:0016127 False pyomyositis bacterial myositis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019169 MONDO:0004069 False pyruvate dehydrogenase deficiency inborn mitochondrial metabolism disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0019169 MONDO:0015653 False pyruvate dehydrogenase deficiency monogenic epilepsy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019169 MONDO:0016789 False pyruvate dehydrogenase deficiency pyruvate metabolism disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019169 MONDO:0019214 False pyruvate dehydrogenase deficiency inborn carbohydrate metabolic disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0019169 MONDO:0020127 False pyruvate dehydrogenase deficiency hereditary peripheral neuropathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019169 MONDO:0100033 False pyruvate dehydrogenase deficiency metabolic epilepsy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019170 MONDO:0043494 False polyarteritis nodosa arteritis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019171 MONDO:0002442 False familial long QT syndrome long QT syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019171 MONDO:0003847 False familial long QT syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019172 MONDO:0002289 False aniridia iris disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0019172 MONDO:0021147 False aniridia disorder of development or morphogenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019175 MONDO:0019297 False primary lymphedema lymphedema UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019180 MONDO:0001576 False hereditary hemorrhagic telangiectasia telangiectasis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0019173 MONDO:0020010 False rabies infectious disorder of the nervous system UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019177 MONDO:0019046 False odontoleukodystrophy leukodystrophy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019178 MONDO:0015161 False auricular abnormalities-cleft lip with or without cleft palate-ocular abnormalities syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019179 MONDO:0016908 False monosomy 9q22.3 partial monosomy of the long arm of chromosome 9 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019180 MONDO:0000426 False hereditary hemorrhagic telangiectasia autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0019180 MONDO:0016231 False hereditary hemorrhagic telangiectasia capillary malformation UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019180 MONDO:0019755 False hereditary hemorrhagic telangiectasia developmental defect during embryogenesis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019181 MONDO:0000509 False non-syndromic X-linked intellectual disability non-syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0019181 MONDO:0100284 False non-syndromic X-linked intellectual disability X-linked intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019182 MONDO:0003847 False inherited obesity hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019182 MONDO:0005151 False inherited obesity endocrine system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019182 MONDO:0011122 False inherited obesity obesity disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019186 MONDO:0000314 False Q fever primary bacterial infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0019186 MONDO:0100120 False Q fever vector-borne disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019187 MONDO:0002254 False Axenfeld-Rieger syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0019187 MONDO:0003847 False Axenfeld-Rieger syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0019187 MONDO:0015161 False Axenfeld-Rieger syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019187 MONDO:0021635 False Axenfeld-Rieger syndrome neurocristopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019188 MONDO:0000508 False Rubinstein-Taybi syndrome syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0019188 MONDO:0002320 False Rubinstein-Taybi syndrome congenital nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0019188 MONDO:0015159 False Rubinstein-Taybi syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019188 MONDO:0018234 False Rubinstein-Taybi syndrome dysostosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0019188 MONDO:0019054 False Rubinstein-Taybi syndrome congenital limb malformation UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019188 MONDO:0100172 False Rubinstein-Taybi syndrome intellectual disability, autosomal dominant UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0019189 MONDO:0019052 False inborn disorder of amino acid and other organic acid metabolism inborn errors of metabolism UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019190 MONDO:0017380 False juvenile polyposis of infancy juvenile polyposis syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019191 MONDO:0000587 False IgG4-related dacryoadenitis and sialadenitis autoimmune disease of ear, nose and throat UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0019191 MONDO:0001854 False IgG4-related dacryoadenitis and sialadenitis lacrimal apparatus disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0019191 MONDO:0018675 False IgG4-related dacryoadenitis and sialadenitis IgG4-related ophthalmic disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019194 MONDO:0006573 False localized lipodystrophy lipodystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019192 MONDO:0020088 False AKT2-related familial partial lipodystrophy familial partial lipodystrophy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019193 MONDO:0020089 False acquired generalized lipodystrophy acquired lipodystrophy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019195 MONDO:0011577 False hereditary inclusion body myopathy-joint contractures-ophthalmoplegia syndrome myopathy, proximal, and ophthalmoplegia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019195 MONDO:0016112 False hereditary inclusion body myopathy-joint contractures-ophthalmoplegia syndrome hereditary inclusion-body myopathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019196 MONDO:0001256 False Foix-Alajouanine syndrome arteriovenous hemangioma/malformation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019197 MONDO:0015653 False folinic acid-responsive seizures monogenic epilepsy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019197 MONDO:0019253 False folinic acid-responsive seizures metabolic disease involving other neurotransmitter deficiency UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019197 MONDO:0100033 False folinic acid-responsive seizures metabolic epilepsy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019198 MONDO:0017255 False sympathetic ophthalmia panuveitis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0019198 MONDO:0017634 False sympathetic ophthalmia non-infectious anterior uveitis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019199 MONDO:0005093 False interstitial granulomatous dermatitis with arthritis skin disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019199 MONDO:0005554 False interstitial granulomatous dermatitis with arthritis rheumatic disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019200 MONDO:0019118 False retinitis pigmentosa inherited retinal dystrophy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0019200 MONDO:0019216 False retinitis pigmentosa inborn disorder of amino acid transport UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019201 MONDO:0000995 False thyrotoxic periodic paralysis familial periodic paralysis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019203 MONDO:0020683 False acute interstitial pneumonia acute disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019204 MONDO:0002429 False respiratory bronchiolitis-interstitial lung disease syndrome idiopathic interstitial pneumonia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019205 MONDO:0019287 False trichodysplasia-amelogenesis imperfecta syndrome ectodermal dysplasia syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019206 MONDO:0019287 False sparse hair-short stature-skin anomalies syndrome ectodermal dysplasia syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019207 MONDO:0100164 False DEND syndrome permanent neonatal diabetes mellitus UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019208 MONDO:0020068 False Bickerstaff brainstem encephalitis postinfectious encephalitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019209 MONDO:0020601 False Japanese encephalitis mosquito-borne viral encephalitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019210 MONDO:0005872 False cutaneous neuroendocrine carcinoma nervous system cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019210 MONDO:0017341 False cutaneous neuroendocrine carcinoma virus associated tumor UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019210 MONDO:0021635 False cutaneous neuroendocrine carcinoma neurocristopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019211 MONDO:0019284 False isolated congenital anonychia inherited isolated nail anomaly UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019212 MONDO:0006602 False disseminated superficial actinic porokeratosis porokeratosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019214 MONDO:0019052 False inborn carbohydrate metabolic disorder inborn errors of metabolism UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0019214 MONDO:0037792 False inborn carbohydrate metabolic disorder carbohydrate metabolism disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019215 MONDO:0000688 False classic organic aciduria inborn organic aciduria UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019216 MONDO:0004736 False inborn disorder of amino acid transport inborn disorder of amino acid metabolism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019218 MONDO:0019189 False inborn disorder of bile acid synthesis inborn disorder of amino acid and other organic acid metabolism UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019218 MONDO:0019256 False inborn disorder of bile acid synthesis sterol metabolism disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019218 MONDO:0045022 False inborn disorder of bile acid synthesis disorder of organic acid metabolism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019219 MONDO:0019250 False inborn disorder of neurotransmitter metabolism and transport inborn disorder of biogenic amine metabolism and transport UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019220 MONDO:0017758 False inborn disorder of cobalamin metabolism and transport disorder of vitamin and non-protein cofactor absorption and transport UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019222 MONDO:0019189 False inborn disorder of methionine cycle and sulfur amino acid metabolism inborn disorder of amino acid and other organic acid metabolism UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019222 MONDO:0045022 False inborn disorder of methionine cycle and sulfur amino acid metabolism disorder of organic acid metabolism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019222 MONDO:0056803 False inborn disorder of methionine cycle and sulfur amino acid metabolism sulfur metabolism disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019223 MONDO:0019243 False disorder of fatty acid and ketone body metabolism inborn disorder of energy metabolism UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019225 MONDO:0002908 False disorder of gluconeogenesis glucose metabolism disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019225 MONDO:0019214 False disorder of gluconeogenesis inborn carbohydrate metabolic disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019226 MONDO:0017706 False glucose transport disorder disorder of carbohydrate transmembrane transport and absorption UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019226 MONDO:0045015 False glucose transport disorder carbohydrate transport disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019228 MONDO:0004736 False inborn disorder of histidine metabolism inborn disorder of amino acid metabolism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0019228 MONDO:0019189 False inborn disorder of histidine metabolism inborn disorder of amino acid and other organic acid metabolism UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019228 MONDO:0037871 False inborn disorder of histidine metabolism amino acid metabolism disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019229 MONDO:0002525 False inborn disorder of ketolysis inherited lipid metabolism disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019229 MONDO:0019223 False inborn disorder of ketolysis disorder of fatty acid and ketone body metabolism UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019230 MONDO:0019189 False inborn disorder of ornithine or proline metabolism inborn disorder of amino acid and other organic acid metabolism UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019231 MONDO:0018605 False inborn disorder of pentose phosphate metabolism disorders of pentose/polyol metabolism UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019232 MONDO:0100473 False inborn disorder of peptide metabolism disorder of peptide and amine metabolism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019233 MONDO:0100257 False disorder of peroxisomal beta oxidation peroxisomal single enzyme/protein defect UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019234 MONDO:0002254 False peroxisome biogenesis disorder syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0019234 MONDO:0006025 False peroxisome biogenesis disorder autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0019234 MONDO:0019053 False peroxisome biogenesis disorder peroxisomal disease UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0019234 MONDO:0020127 False peroxisome biogenesis disorder hereditary peripheral neuropathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019235 MONDO:0004736 False inborn disorder of phenylalanine and tyrosine metabolism inborn disorder of amino acid metabolism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019236 MONDO:0019254 False inborn disorder of purine metabolism inborn disorder of purine or pyrimidine metabolism UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019236 MONDO:0037829 False inborn disorder of purine metabolism purine metabolism disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019237 MONDO:0005528 False inborn disorder of pyridoxine metabolism inborn vitamin metabolic disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019237 MONDO:0019250 False inborn disorder of pyridoxine metabolism inborn disorder of biogenic amine metabolism and transport UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019238 MONDO:0019254 False inborn disorder of pyrimidine metabolism inborn disorder of purine or pyrimidine metabolism UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0019238 MONDO:0037937 False inborn disorder of pyrimidine metabolism pyrimidine metabolism disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019239 MONDO:0019189 False inborn disorder of serine family metabolism inborn disorder of amino acid and other organic acid metabolism UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019239 MONDO:0037871 False inborn disorder of serine family metabolism amino acid metabolism disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019240 MONDO:0015327 False sterol biosynthesis disorder developmental anomaly of metabolic origin UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019240 MONDO:0019256 False sterol biosynthesis disorder sterol metabolism disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019241 MONDO:0019189 False inborn disorder of the gamma-glutamyl cycle inborn disorder of amino acid and other organic acid metabolism UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019242 MONDO:0004736 False inborn disorder of branched-chain amino acid metabolism inborn disorder of amino acid metabolism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019242 MONDO:0019189 False inborn disorder of branched-chain amino acid metabolism inborn disorder of amino acid and other organic acid metabolism UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019242 MONDO:0037871 False inborn disorder of branched-chain amino acid metabolism amino acid metabolism disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019243 MONDO:0019052 False inborn disorder of energy metabolism inborn errors of metabolism UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019245 MONDO:0002525 False lysosomal lipid storage disorder inherited lipid metabolism disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0019249 MONDO:0019214 False mucopolysaccharidosis inborn carbohydrate metabolic disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0019245 MONDO:0002561 False lysosomal lipid storage disorder lysosomal storage disease UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0019246 MONDO:0002561 False inborn disorder of lysosomal amino acid transport lysosomal storage disease UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019248 MONDO:0015327 False mucolipidosis developmental anomaly of metabolic origin UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019248 MONDO:0017731 False mucolipidosis glycoproteinosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019249 MONDO:0015327 False mucopolysaccharidosis developmental anomaly of metabolic origin UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019249 MONDO:0100365 False mucopolysaccharidosis mucopolysaccharidosis or mucopolysaccharidosis-like disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019250 MONDO:0019052 False inborn disorder of biogenic amine metabolism and transport inborn errors of metabolism UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019251 MONDO:0015327 False oligosaccharidosis developmental anomaly of metabolic origin UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019251 MONDO:0017731 False oligosaccharidosis glycoproteinosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019251 MONDO:0019214 False oligosaccharidosis inborn carbohydrate metabolic disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019253 MONDO:0019250 False metabolic disease involving other neurotransmitter deficiency inborn disorder of biogenic amine metabolism and transport UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019254 MONDO:0019052 False inborn disorder of purine or pyrimidine metabolism inborn errors of metabolism UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0019255 MONDO:0019245 False sphingolipidosis lysosomal lipid storage disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0019256 MONDO:0002525 False sterol metabolism disorder inherited lipid metabolism disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019256 MONDO:0045012 False sterol metabolism disorder steroid metabolism disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019257 MONDO:0006507 False hemochromatosis type 2 hereditary hemochromatosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0019258 MONDO:0009861 False mild phenylketonuria phenylketonuria UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019259 MONDO:0009861 False classic phenylketonuria phenylketonuria UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019260 MONDO:0016295 False adult neuronal ceroid lipofuscinosis neuronal ceroid lipofuscinosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019260 MONDO:0020143 False adult neuronal ceroid lipofuscinosis cerebral lipidosis with dementia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019261 MONDO:0016295 False infantile neuronal ceroid lipofuscinosis neuronal ceroid lipofuscinosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019261 MONDO:0020143 False infantile neuronal ceroid lipofuscinosis cerebral lipidosis with dementia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019262 MONDO:0016295 False juvenile neuronal ceroid lipofuscinosis neuronal ceroid lipofuscinosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019262 MONDO:0020143 False juvenile neuronal ceroid lipofuscinosis cerebral lipidosis with dementia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019263 MONDO:0001676 False autosomal erythropoietic protoporphyria erythropoietic protoporphyria UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019264 MONDO:0017779 False alpha-N-acetylgalactosaminidase deficiency type 3 alpha-N-acetylgalactosaminidase deficiency UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0019265 MONDO:0017186 False diazoxide-resistant focal hyperinsulinism diazoxide-resistant hyperinsulinism UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019266 MONDO:0019751 False SAPHO syndrome autoinflammatory syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019267 MONDO:0009612 False vitamin B12-unresponsive methylmalonic acidemia type mut- methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019268 MONDO:0005093 False epidermal disease skin disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019269 MONDO:0019268 False ichthyosis epidermal disease UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019270 MONDO:0019268 False erythrokeratoderma epidermal disease UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019272 MONDO:0006590 False hereditary palmoplantar keratoderma palmoplantar keratosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019272 MONDO:0019268 False hereditary palmoplantar keratoderma epidermal disease UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019272 MONDO:0100118 False hereditary palmoplantar keratoderma hereditary skin disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019276 MONDO:0006541 False inherited epidermolysis bullosa epidermolysis bullosa UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019276 MONDO:0019268 False inherited epidermolysis bullosa epidermal disease UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019276 MONDO:0100118 False inherited epidermolysis bullosa hereditary skin disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019278 MONDO:0002917 False hair anomaly disorder of pilosebaceous unit UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019278 MONDO:0024481 False hair anomaly skin appendage disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019280 MONDO:0002917 False hypertrichosis disorder of pilosebaceous unit UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0019283 MONDO:0002884 False nail anomaly nail disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019284 MONDO:0002884 False inherited isolated nail anomaly nail disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0019284 MONDO:0003847 False inherited isolated nail anomaly hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0019287 MONDO:0021026 False ectodermal dysplasia syndrome hereditary epidermal appendage anomaly UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019287 MONDO:0100118 False ectodermal dysplasia syndrome hereditary skin disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019293 MONDO:0005385 False skin vascular disease vascular disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0019289 MONDO:0019288 False hyperpigmentation of the skin skin pigmentation disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019290 MONDO:0019288 False hypopigmentation of the skin skin pigmentation disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019294 MONDO:0021154 False mixed dermis disorder dermis disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019296 MONDO:0002051 False subcutaneous tissue disorder integumentary system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019297 MONDO:0005833 False lymphedema lymphatic system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0019303 MONDO:0700096 False premature aging syndrome human disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019306 MONDO:0006025 False congenital non-bullous ichthyosiform erythroderma autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019306 MONDO:0017265 False congenital non-bullous ichthyosiform erythroderma autosomal recessive congenital ichthyosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019307 MONDO:0009180 False generalized junctional epidermolysis bullosa non-Herlitz type junctional epidermolysis bullosa, non-Herlitz type UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019308 MONDO:0017612 False junctional epidermolysis bullosa inversa junctional epidermolysis bullosa UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019309 MONDO:0017612 False late-onset junctional epidermolysis bullosa junctional epidermolysis bullosa UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019310 MONDO:0009179 False recessive dystrophic epidermolysis bullosa inversa recessive dystrophic epidermolysis bullosa UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019311 MONDO:0008093 False wooly hair nevus nevus, epidermal UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019312 MONDO:0017305 False Hermansky-Pudlak syndrome syndromic oculocutaneous albinism UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019312 MONDO:0017739 False Hermansky-Pudlak syndrome disorder of lysosomal-related organelles UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019312 MONDO:0021181 False Hermansky-Pudlak syndrome inherited blood coagulation disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019313 MONDO:0003847 False lymphatic malformation hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0019313 MONDO:0005385 False lymphatic malformation vascular disorder UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0019313 MONDO:0019175 False lymphatic malformation primary lymphedema UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019317 MONDO:0010535 False follicular atrophoderma-basal cell carcinoma Bazex-Dupre-Christol syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019314 MONDO:0019023 False cutaneous mastocytoma cutaneous mastocytosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019318 MONDO:0016831 False inflammatory linear verrucous epidermal nevus linear verrucous nevus syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019319 MONDO:0016831 False verrucous nevus linear verrucous nevus syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019320 MONDO:0016831 False acanthokeratolytic verrucous nevus linear verrucous nevus syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019321 MONDO:0021106 False atypical Werner syndrome laminopathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019321 MONDO:0021147 False atypical Werner syndrome disorder of development or morphogenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019322 MONDO:0008219 False pemphigus vegetans pemphigus vulgaris UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019324 MONDO:0006594 False pemphigus foliaceus pemphigus UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0019325 MONDO:0017318 False phakomatosis cesioflammea phakomatosis pigmentovascularis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019326 MONDO:0017318 False phakomatosis cesiomarmorata phakomatosis pigmentovascularis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019327 MONDO:0017318 False phakomatosis spilorosea phakomatosis pigmentovascularis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019329 MONDO:0002013 False microcystic lymphatic malformation lymphangioma UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019330 MONDO:0019278 False pili gemini hair anomaly UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019332 MONDO:0017675 False punctate palmoplantar keratoderma type 1 punctate palmoplantar keratoderma UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019333 MONDO:0009734 False autosomal recessive hyperinsulinism due to SUR1 deficiency hyperinsulinemic hypoglycemia, familial, 1 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019333 MONDO:0015625 False autosomal recessive hyperinsulinism due to SUR1 deficiency diazoxide-resistant diffuse hyperinsulinism UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019334 MONDO:0011153 False autosomal recessive hyperinsulinism due to Kir6.2 deficiency hyperinsulinemic hypoglycemia, familial, 2 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019334 MONDO:0015625 False autosomal recessive hyperinsulinism due to Kir6.2 deficiency diazoxide-resistant diffuse hyperinsulinism UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019335 MONDO:0009861 False mild hyperphenylalaninemia phenylketonuria UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019336 MONDO:0005328 False Gardner syndrome eye disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019337 MONDO:0002406 False autoimmune bullous skin disease dermatitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0019337 MONDO:0006617 False autoimmune bullous skin disease vesiculobullous skin disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0019337 MONDO:0007179 False autoimmune bullous skin disease autoimmune disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0019338 MONDO:0019751 False sarcoidosis autoinflammatory syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019339 MONDO:0700028 False 47,XYY syndrome chromosome Y disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019339 MONDO:0700065 False 47,XYY syndrome trisomy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019340 MONDO:0007179 False scleroderma autoimmune disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0019342 MONDO:0006025 False Seckel syndrome autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0019344 MONDO:0020122 False antisynthetase syndrome acquired idiopathic inflammatory myopathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019345 MONDO:0000314 False shigellosis primary bacterial infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0019345 MONDO:0001517 False shigellosis dysentery UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0019345 MONDO:0024634 False shigellosis large intestine disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019346 MONDO:0017734 False sialidosis type 1 sialidosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019346 MONDO:0031422 False sialidosis type 1 familial mucolipidosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019347 MONDO:0015947 False peeling skin syndrome inherited ichthyosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019349 MONDO:0015160 False Sotos syndrome multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019349 MONDO:0016904 False Sotos syndrome partial deletion of the long arm of chromosome 5 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019349 MONDO:0018230 False Sotos syndrome skeletal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019351 MONDO:0008449 False isolated spina bifida spina bifida UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019353 MONDO:0005150 False Stargardt disease age-related macular degeneration UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0019353 MONDO:0016420 False Stargardt disease familial flecked retinopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019354 MONDO:0016761 False Stickler syndrome spondyloepiphyseal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0019354 MONDO:0020248 False Stickler syndrome vitreoretinal degeneration UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019355 MONDO:0005578 False adult-onset Still disease arthritic joint disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0019355 MONDO:0019751 False adult-onset Still disease autoinflammatory syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019356 MONDO:0019755 False urogenital tract malformation developmental defect during embryogenesis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019357 MONDO:0002602 False congenital narrowing of cervical spinal canal central nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019358 MONDO:0001176 False encephalopathy due to sulfite oxidase deficiency lens disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019358 MONDO:0015327 False encephalopathy due to sulfite oxidase deficiency developmental anomaly of metabolic origin UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019358 MONDO:0019222 False encephalopathy due to sulfite oxidase deficiency inborn disorder of methionine cycle and sulfur amino acid metabolism UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019359 MONDO:0001195 False Rocky mountain spotted fever spotted fever UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0019360 MONDO:0001195 False rickettsialpox spotted fever UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0019362 MONDO:0001246 False epidemic louse-borne typhus typhus UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0019364 MONDO:0001195 False pseudotyphus of California spotted fever UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019365 MONDO:0001246 False scrub typhus typhus UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0019365 MONDO:0600003 False scrub typhus bacterial hemorrhagic fever UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019366 MONDO:0019246 False free sialic acid storage disease inborn disorder of lysosomal amino acid transport UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019367 MONDO:0002635 False regional odontodysplasia periodontal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019368 MONDO:0006858 False florid cemento-osseous dysplasia mouth disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019369 MONDO:0024317 False complex regional pain syndrome chronic pain syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019370 MONDO:0002263 False vulvovaginal gingival syndrome female reproductive system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019371 MONDO:0005560 False narcolepsy without cataplexy brain disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019371 MONDO:0021107 False narcolepsy without cataplexy narcolepsy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019372 MONDO:0019060 False solitary bone cyst bone neoplasm UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019374 MONDO:0020043 False CAMOS syndrome autosomal recessive congenital cerebellar ataxia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019375 MONDO:0001150 False megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome hydrocephalus UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019375 MONDO:0011348 False megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome non-syndromic polydactyly UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019375 MONDO:0100283 False megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -29058,175 +28203,312 @@ MONDO:0019380 MONDO:0005643 False western equine encephalitis Alphavirus infecti MONDO:0019380 MONDO:0020601 False western equine encephalitis mosquito-borne viral encephalitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019383 MONDO:0002562 False acute disseminated encephalomyelitis demyelinating disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0019383 MONDO:0020068 False acute disseminated encephalomyelitis postinfectious encephalitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0019384 MONDO:0006009 False encephalitis lethargica viral encephalitis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0019384 MONDO:0020068 False encephalitis lethargica postinfectious encephalitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0019384 MONDO:0021095 False encephalitis lethargica parkinsonian disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0019385 MONDO:0020068 False steroid-responsive encephalopathy associated with autoimmune thyroiditis postinfectious encephalitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019385 MONDO:0020640 False steroid-responsive encephalopathy associated with autoimmune thyroiditis autoimmune encephalitis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019385 MONDO:0100029 False steroid-responsive encephalopathy associated with autoimmune thyroiditis antibody mediated epilepsy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019386 MONDO:0020648 False progressive rubella panencephalitis rubella encephalitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019388 MONDO:0002254 False pelvis syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019387 MONDO:0015161 False macrostomia-preauricular tags-external ophthalmoplegia syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019388 MONDO:0015161 False pelvis syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019388 MONDO:0024296 False pelvis syndrome vascular neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019390 MONDO:0002254 False Susac syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019390 MONDO:0007179 False Susac syndrome autoimmune disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019388 MONDO:0700245 False pelvis syndrome syndromic disorder of cell proliferation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019391 MONDO:0000577 False Fanconi anemia congenital anemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019391 MONDO:0003225 False Fanconi anemia bone marrow disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0019391 MONDO:0001713 False Fanconi anemia inherited aplastic anemia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0019391 MONDO:0015161 False Fanconi anemia multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019391 MONDO:0015327 False Fanconi anemia developmental anomaly of metabolic origin UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019391 MONDO:0021190 False Fanconi anemia DNA repair disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019391 MONDO:0018234 False Fanconi anemia dysostosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0019391 MONDO:0019054 False Fanconi anemia congenital limb malformation UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019391 MONDO:0100137 False Fanconi anemia telomere syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019393 MONDO:0019218 False idiopathic malabsorption due to bile acid synthesis defects inborn disorder of bile acid synthesis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019393 MONDO:0020598 False idiopathic malabsorption due to bile acid synthesis defects malabsorption syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019393 MONDO:0700007 False idiopathic malabsorption due to bile acid synthesis defects idiopathic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019394 MONDO:0015962 False Senior-Boichis syndrome inherited renal tubular disease UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019395 MONDO:0006026 False Hinman syndrome urinary bladder disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019396 MONDO:0019722 False collagen type III glomerulopathy glomerular disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019398 MONDO:0011271 False desmin-related myopathy with Mallory body-like inclusions rigid spine muscular dystrophy 1 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019398 MONDO:0016112 False desmin-related myopathy with Mallory body-like inclusions hereditary inclusion-body myopathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019399 MONDO:0019119 False Isaac syndrome muscular channelopathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019401 MONDO:0018170 False sporadic idiopathic steroid-resistant nephrotic syndrome idiopathic nephrotic syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019401 MONDO:0044765 False sporadic idiopathic steroid-resistant nephrotic syndrome steroid-resistant nephrotic syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019402 MONDO:0005151 False beta thalassemia endocrine system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0019402 MONDO:0017145 False beta thalassemia beta-thalassemia and related diseases UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019403 MONDO:0003689 False congenital dyserythropoietic anemia familial hemolytic anemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0019404 MONDO:0016749 False perineurioma tumor of cranial and spinal nerves UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019405 MONDO:0024237 False facial onset sensory and motor neuronopathy inherited neurodegenerative disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019406 MONDO:0019695 False craniofacial conodysplasia acromelic dysplasia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019407 MONDO:0000426 False microcephalic osteodysplastic dysplasia, Saul-Wilson type autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0019407 MONDO:0005497 False microcephalic osteodysplastic dysplasia, Saul-Wilson type bone development disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0019407 MONDO:0800063 False microcephalic osteodysplastic dysplasia, Saul-Wilson type primordial dwarfism and slender bone disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019408 MONDO:0019701 False Astley-Kendall dysplasia chondrodysplasia punctata UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019409 MONDO:0005554 False idiopathic juvenile osteoporosis rheumatic disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0019409 MONDO:0023603 False idiopathic juvenile osteoporosis hereditary disorder of connective tissue UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019409 MONDO:0700007 False idiopathic juvenile osteoporosis idiopathic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019411 MONDO:0007653 False genochondromatosis type 1 genochondromatosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019412 MONDO:0018230 False dysspondyloenchondromatosis skeletal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019413 MONDO:0002254 False ischio-vertebral syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019413 MONDO:0003847 False ischio-vertebral syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019413 MONDO:0018234 False ischio-vertebral syndrome dysostosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019414 MONDO:0002254 False BRESEK syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019415 MONDO:0002243 False fetal and neonatal alloimmune thrombocytopenia hemorrhagic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019416 MONDO:0002320 False X-linked intellectual disability-hypogammaglobulinemia-progressive neurological deterioration syndrome congenital nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019416 MONDO:0015159 False X-linked intellectual disability-hypogammaglobulinemia-progressive neurological deterioration syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019416 MONDO:0020119 False X-linked intellectual disability-hypogammaglobulinemia-progressive neurological deterioration syndrome X-linked syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019417 MONDO:0020119 False X-linked intellectual disability-precocious puberty-obesity syndrome X-linked syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019418 MONDO:0002320 False X-linked intellectual disability-epilepsy-progressive joint contractures-dysmorphism syndrome congenital nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019418 MONDO:0015159 False X-linked intellectual disability-epilepsy-progressive joint contractures-dysmorphism syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019418 MONDO:0020119 False X-linked intellectual disability-epilepsy-progressive joint contractures-dysmorphism syndrome X-linked syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019419 MONDO:0020119 False X-linked intellectual disability-macrocephaly-macroorchidism syndrome X-linked syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019420 MONDO:0002320 False X-linked intellectual disability, Pai type congenital nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019420 MONDO:0015159 False X-linked intellectual disability, Pai type multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019420 MONDO:0020119 False X-linked intellectual disability, Pai type X-linked syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019421 MONDO:0020119 False X-linked intellectual disability, Seemanova type X-linked syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019422 MONDO:0002320 False X-linked intellectual disability, Stevenson type congenital nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019422 MONDO:0015159 False X-linked intellectual disability, Stevenson type multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019422 MONDO:0020119 False X-linked intellectual disability, Stevenson type X-linked syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019423 MONDO:0002320 False X-linked intellectual disability, Stoll type congenital nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019423 MONDO:0015159 False X-linked intellectual disability, Stoll type multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019423 MONDO:0020119 False X-linked intellectual disability, Stoll type X-linked syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019424 MONDO:0020119 False X-linked intellectual disability-acromegaly-hyperactivity syndrome X-linked syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019426 MONDO:0020119 False X-linked intellectual disability-corpus callosum agenesis-spastic quadriparesis syndrome X-linked syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019426 MONDO:0021147 False X-linked intellectual disability-corpus callosum agenesis-spastic quadriparesis syndrome disorder of development or morphogenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019427 MONDO:0024237 False X-linked neurodegenerative syndrome, Bertini type inherited neurodegenerative disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019428 MONDO:0020119 False fried syndrome X-linked syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019429 MONDO:0024237 False X-linked neurodegenerative syndrome, Hamel type inherited neurodegenerative disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019430 MONDO:0016612 False X-linked intellectual disability-ataxia-apraxia syndrome X-linked cerebellar ataxia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019430 MONDO:0020119 False X-linked intellectual disability-ataxia-apraxia syndrome X-linked syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019431 MONDO:0005154 False primitive portal vein thrombosis liver disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019432 MONDO:0018456 False rheumatoid factor-negative juvenile idiopathic arthritis polyarticular juvenile idiopathic arthritis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019434 MONDO:0019751 False systemic-onset juvenile idiopathic arthritis autoinflammatory syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019436 MONDO:0011849 False psoriasis-related juvenile idiopathic arthritis psoriatic arthritis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019435 MONDO:0018456 False rheumatoid factor-positive polyarticular juvenile idiopathic arthritis polyarticular juvenile idiopathic arthritis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019436 MONDO:0011429 False psoriasis-related juvenile idiopathic arthritis juvenile idiopathic arthritis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019438 MONDO:0005071 False AL amyloidosis nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0019438 MONDO:0006504 False AL amyloidosis acquired metabolic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0019438 MONDO:0016330 False AL amyloidosis non-familial hypertrophic cardiomyopathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019438 MONDO:0016345 False AL amyloidosis non-familial restrictive cardiomyopathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019439 MONDO:0005071 False AA amyloidosis nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0019439 MONDO:0016345 False AA amyloidosis non-familial restrictive cardiomyopathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019440 MONDO:0018590 False wild type ABeta2M amyloidosis ABeta2M amyloidosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019441 MONDO:0007100 False ATTRV122I amyloidosis familial amyloid neuropathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019441 MONDO:0016340 False ATTRV122I amyloidosis familial restrictive cardiomyopathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019443 MONDO:0000153 False dextro-looped transposition of the great arteries transposition of the great arteries UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019443 MONDO:0003847 False dextro-looped transposition of the great arteries hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0019443 MONDO:0005453 False dextro-looped transposition of the great arteries congenital heart disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0019444 MONDO:0005745 False trichinellosis Enoplea infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019444 MONDO:0016128 False trichinellosis parasitic myositis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019445 MONDO:0021539 False trichofolliculoma hamartoma of skin appendage UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019446 MONDO:0018432 False localized lichen myxedematosus lichen myxedematosus UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019447 MONDO:0018432 False atypical lichen myxedematosus lichen myxedematosus UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019448 MONDO:0000160 False benign adult familial myoclonic epilepsy epilepsy, familial adult myoclonic UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019467 MONDO:0002898 False CD4+/CD56+ hematodermic neoplasm skin cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0019467 MONDO:0005170 False CD4+/CD56+ hematodermic neoplasm myeloid neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0019448 MONDO:0020073 False benign adult familial myoclonic epilepsy adolescent-onset epilepsy syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019449 MONDO:0015148 False lissencephaly type 3-familial fetal akinesia sequence syndrome lissencephaly type 3 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019450 MONDO:0018838 False lissencephaly with cerebellar hypoplasia lissencephaly spectrum disorders UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019460 MONDO:0018874 False acute leukemia of ambiguous lineage acute myeloid leukemia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019461 MONDO:0017595 False B-cell prolymphocytic leukemia aggressive B-cell non-Hodgkin lymphoma UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019463 MONDO:0004959 False non-amyloid monoclonal immunoglobulin deposition disease plasma cell neoplasm UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019464 MONDO:0004959 False heavy chain disease plasma cell neoplasm UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0019466 MONDO:0017343 False lymphomatoid granulomatosis Epstein-Barr virus-associated malignant lymphoproliferative disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019466 MONDO:0018905 False lymphomatoid granulomatosis diffuse large B-cell lymphoma UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0019467 MONDO:0015760 False CD4+/CD56+ hematodermic neoplasm T-cell non-Hodgkin lymphoma UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0019468 MONDO:0000430 False T-cell prolymphocytic leukemia mature T-cell and NK-cell non-Hodgkin lymphoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0019468 MONDO:0003537 False T-cell prolymphocytic leukemia precursor T-lymphoblastic lymphoma/leukemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019468 MONDO:0003540 False T-cell prolymphocytic leukemia acute T cell leukemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0019468 MONDO:0004963 False T-cell prolymphocytic leukemia T-cell acute lymphoblastic leukemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019469 MONDO:0000430 False T-cell large granular lymphocyte leukemia mature T-cell and NK-cell non-Hodgkin lymphoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0019469 MONDO:0005046 False T-cell large granular lymphocyte leukemia immune system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0019470 MONDO:0000430 False aggressive NK-cell leukemia mature T-cell and NK-cell non-Hodgkin lymphoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0019470 MONDO:0003537 False aggressive NK-cell leukemia precursor T-lymphoblastic lymphoma/leukemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019470 MONDO:0004805 False aggressive NK-cell leukemia leukocyte disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0019470 MONDO:0004963 False aggressive NK-cell leukemia T-cell acute lymphoblastic leukemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019471 MONDO:0005525 False adult T-cell leukemia/lymphoma T-cell leukemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019471 MONDO:0005801 False adult T-cell leukemia/lymphoma human T-lymphotropic virus 1 infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019471 MONDO:0017341 False adult T-cell leukemia/lymphoma virus associated tumor UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019471 MONDO:0021184 False adult T-cell leukemia/lymphoma deltaretrovirus infections UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019472 MONDO:0017343 False extranodal nasal NK/T cell lymphoma Epstein-Barr virus-associated malignant lymphoproliferative disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019475 MONDO:0000621 False subcutaneous panniculitis-like T-cell lymphoma immune system cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019475 MONDO:0004805 False subcutaneous panniculitis-like T-cell lymphoma leukocyte disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019475 MONDO:0015816 False subcutaneous panniculitis-like T-cell lymphoma indolent primary cutaneous T-cell lymphoma UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019475 MONDO:0100118 False subcutaneous panniculitis-like T-cell lymphoma hereditary skin disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019476 MONDO:0015758 False primary cutaneous peripheral T-cell lymphoma not otherwise specified primary cutaneous T-cell lymphoma UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019480 MONDO:0004380 False Langerhans cell sarcoma dendritic cell sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0019480 MONDO:0020082 False Langerhans cell sarcoma dendritic cell tumor UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019482 MONDO:0020082 False dendritic cell sarcoma not otherwise specified dendritic cell tumor UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019483 MONDO:0005062 False methotrexate-associated lymphoproliferative disorders lymphoma UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0019483 MONDO:0020083 False methotrexate-associated lymphoproliferative disorders immunodeficiency-associated lymphoproliferative disease UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019484 MONDO:0005560 False hypothalamic hamartomas with gelastic seizures brain disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019485 MONDO:0005579 False idiopathic hemiconvulsion-hemiplegia syndrome epilepsy, idiopathic generalized UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019485 MONDO:0020071 False idiopathic hemiconvulsion-hemiplegia syndrome infantile epilepsy syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019485 MONDO:0020072 False idiopathic hemiconvulsion-hemiplegia syndrome childhood-onset epilepsy syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019487 MONDO:0005395 False epilepsy with myoclonic absences movement disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019487 MONDO:0020072 False epilepsy with myoclonic absences childhood-onset epilepsy syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019488 MONDO:0020071 False myoclonic epilepsy in non-progressive encephalopathies infantile epilepsy syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019489 MONDO:0017666 False diffuse palmoplantar keratoderma - acrocyanosis syndrome diffuse palmoplantar keratoderma UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019490 MONDO:0000992 False progressive familial heart block heart conduction disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0019490 MONDO:0003847 False progressive familial heart block hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0019493 MONDO:0021209 False primary adult heart tumor heart neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019494 MONDO:0021209 False primary pediatric heart tumor heart neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019497 MONDO:0005365 False nonsyndromic genetic hearing loss hearing loss disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019497 MONDO:0037940 False nonsyndromic genetic hearing loss inherited auditory system disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019498 MONDO:0002875 False tungiasis parasitic ectoparasitic infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0019498 MONDO:0100120 False tungiasis vector-borne disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019499 MONDO:0002254 False Turner syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0019499 MONDO:0017975 False Turner syndrome sex chromosome disorder of sex development UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019499 MONDO:0019852 False Turner syndrome inherited primary ovarian failure UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019500 MONDO:0020539 False extragonadal teratoma extragonadal non-dysgerminomatous germ cell tumor UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019501 MONDO:0006025 False Usher syndrome autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0019502 MONDO:0000509 False autosomal recessive non-syndromic intellectual disability non-syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0019502 MONDO:0006025 False autosomal recessive non-syndromic intellectual disability autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0019502 MONDO:0017706 False autosomal recessive non-syndromic intellectual disability disorder of carbohydrate transmembrane transport and absorption UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019503 MONDO:0003847 False anterior segment dysgenesis hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0019503 MONDO:0005328 False anterior segment dysgenesis eye disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0019503 MONDO:0021147 False anterior segment dysgenesis disorder of development or morphogenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019504 MONDO:0005328 False superior limbic keratoconjunctivitis eye disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019506 MONDO:0002254 False obesity-colitis-hypothyroidism-cardiac hypertrophy-developmental delay syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019507 MONDO:0003847 False amelogenesis imperfecta hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0019507 MONDO:0004038 False amelogenesis imperfecta dental enamel hypoplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0019508 MONDO:0015161 False van der Woude syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019509 MONDO:0015491 False cutaneous leukocytoclastic angiitis immune complex mediated vasculitis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019512 MONDO:0024239 False congenital heart malformation congenital anomaly of cardiovascular system UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019516 MONDO:0002311 False exudative vitreoretinopathy retinal vascular disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0019516 MONDO:0020248 False exudative vitreoretinopathy vitreoretinal degeneration UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019518 MONDO:0018094 False Waardenburg-Shah syndrome Waardenburg syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019518 MONDO:0021189 False Waardenburg-Shah syndrome intestinal motility disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019518 MONDO:0021635 False Waardenburg-Shah syndrome neurocristopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019521 MONDO:0006543 False centripetalis recessive dystrophic epidermolysis bullosa epidermolysis bullosa dystrophica UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019522 MONDO:0006543 False recessive dystrophic epidermolysis bullosa-generalized other epidermolysis bullosa dystrophica UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019524 MONDO:0015231 False Bartter syndrome type 4 Bartter syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019525 MONDO:0019852 False tetrasomy X inherited primary ovarian failure UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019525 MONDO:0030502 False tetrasomy X tetrasomy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019525 MONDO:0700027 False tetrasomy X chromosome X disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019527 MONDO:0007179 False undifferentiated connective tissue syndrome autoimmune disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019526 MONDO:0015491 False erythema elevatum diutinum immune complex mediated vasculitis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019528 MONDO:0024477 False inflammatory pseudotumor of the liver liver and intrahepatic bile duct neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019529 MONDO:0002545 False radiation myelitis spinal cord disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019530 MONDO:0021002 False non-syndromic syndactyly syndactyly UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019531 MONDO:0003689 False hemolytic anemia due to glutathione reductase deficiency familial hemolytic anemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019531 MONDO:0040566 False hemolytic anemia due to glutathione reductase deficiency inherited glutathione metabolism disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019533 MONDO:0016450 False paroxysmal cold hemoglobinuria autoimmune hemolytic anemia, cold type UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019534 MONDO:0020108 False mixed-type autoimmune hemolytic anemia autoimmune hemolytic anemia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019535 MONDO:0020108 False drug-induced autoimmune hemolytic anemia autoimmune hemolytic anemia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019536 MONDO:0003664 False Shiga toxin-associated hemolytic uremic syndrome hemolytic anemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019536 MONDO:0034103 False Shiga toxin-associated hemolytic uremic syndrome infection-related hemolytic uremic syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019537 MONDO:0002280 False hemoglobin D disease anemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0019538 MONDO:0016541 False Gaisbock syndrome acquired secondary polycythemia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019540 MONDO:0005087 False diffuse alveolar hemorrhage respiratory system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019542 MONDO:0020683 False acute liver failure acute disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019542 MONDO:0100192 False acute liver failure liver failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019543 MONDO:0005099 False acquired aneurysmal subarachnoid hemorrhage subarachnoid hemorrhage UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019544 MONDO:0029000 False cocaine intoxication poisoning UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019545 MONDO:0029000 False systemic monochloroacetate poisoning poisoning UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019547 MONDO:0005093 False Wells syndrome skin disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019548 MONDO:0000426 False autosomal dominant intermediate Charcot-Marie-Tooth disease autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019548 MONDO:0018778 False autosomal dominant intermediate Charcot-Marie-Tooth disease intermediate Charcot-Marie-Tooth disease UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019549 MONDO:0015358 False severe early-onset axonal neuropathy due to MFN2 deficiency hereditary motor and sensory neuropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019550 MONDO:0015358 False hereditary motor and sensory neuropathy with acrodystrophy hereditary motor and sensory neuropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019551 MONDO:0015358 False hereditary motor and sensory neuropathy type 6 hereditary motor and sensory neuropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019552 MONDO:0019194 False centrifugal lipodystrophy localized lipodystrophy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019553 MONDO:0019194 False drug-induced localized lipodystrophy localized lipodystrophy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019554 MONDO:0019194 False idiopathic localized lipodystrophy localized lipodystrophy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019554 MONDO:0700007 False idiopathic localized lipodystrophy idiopathic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019555 MONDO:0006591 False panniculitis and localized lipodystrophy panniculitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019555 MONDO:0019194 False panniculitis and localized lipodystrophy localized lipodystrophy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019556 MONDO:0019194 False pressure-induced localized lipoatrophy localized lipodystrophy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019557 MONDO:0000603 False chilblain lupus autoimmune disorder of cardiovascular system UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0019557 MONDO:0015574 False chilblain lupus chronic cutaneous lupus erythematosus UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019557 MONDO:0019293 False chilblain lupus skin vascular disease UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0019558 MONDO:0015574 False discoid lupus erythematosus chronic cutaneous lupus erythematosus UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019559 MONDO:0015574 False hypertrophic or verrucous lupus erythematosus chronic cutaneous lupus erythematosus UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019560 MONDO:0015574 False lupus erythematosus tumidus chronic cutaneous lupus erythematosus UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019561 MONDO:0006591 False lupus erythematosus panniculitis panniculitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019561 MONDO:0015574 False lupus erythematosus panniculitis chronic cutaneous lupus erythematosus UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019563 MONDO:0016358 False CREST syndrome limited cutaneous systemic sclerosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0019565 MONDO:0002243 False hereditary von Willebrand disease hemorrhagic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0019565 MONDO:0021181 False hereditary von Willebrand disease inherited blood coagulation disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019565 MONDO:0024574 False hereditary von Willebrand disease von Willebrand disease (hereditary or acquired) UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019567 MONDO:0007522 False Ehlers-Danlos syndrome, classic type, 1 Ehlers-Danlos syndrome, classic type UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019568 MONDO:0007522 False Ehlers-Danlos syndrome, classic type, 2 Ehlers-Danlos syndrome, classic type UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019571 MONDO:0000426 False autosomal dominant cutis laxa autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0019571 MONDO:0100237 False autosomal dominant cutis laxa inherited cutis laxa UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019572 MONDO:0006025 False autosomal recessive cutis laxa type 1 autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0019572 MONDO:0100237 False autosomal recessive cutis laxa type 1 inherited cutis laxa UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019573 MONDO:0006025 False autosomal recessive cutis laxa type 2 autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019573 MONDO:0015327 False autosomal recessive cutis laxa type 2 developmental anomaly of metabolic origin UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019573 MONDO:0017355 False autosomal recessive cutis laxa type 2 inborn disorder of proline metabolism UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019573 MONDO:0018230 False autosomal recessive cutis laxa type 2 skeletal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019573 MONDO:0100237 False autosomal recessive cutis laxa type 2 inherited cutis laxa UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019574 MONDO:0018178 False secondary intestinal lymphangiectasia intestinal lymphangiectasia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019575 MONDO:0004907 False hypotrichosis simplex of the scalp alopecia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019576 MONDO:0019316 False telangiectasia macularis eruptiva perstans maculopapular cutaneous mastocytosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019577 MONDO:0019211 False anonychia-onychodystrophy syndrome isolated congenital anonychia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019578 MONDO:0019446 False nodular lichen myxedematosus localized lichen myxedematosus UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019579 MONDO:0019446 False discrete papular lichen myxedematosus localized lichen myxedematosus UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019580 MONDO:0019446 False papular mucinosis of infancy localized lichen myxedematosus UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019581 MONDO:0019446 False acral persistent papular mucinosis localized lichen myxedematosus UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019582 MONDO:0019446 False self-healing papular mucinosis localized lichen myxedematosus UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019583 MONDO:0019447 False localized lichen myxedematosus with mixed features of different subtypes atypical lichen myxedematosus UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019584 MONDO:0019447 False localized lichen myxedematosus with monoclonal gammopathy or systemic symptoms atypical lichen myxedematosus UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019585 MONDO:0019447 False scleromyxedema without monoclonal gammopathy atypical lichen myxedematosus UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019586 MONDO:0016297 False X-linked nonsyndromic hearing loss prelingual non-syndromic genetic hearing loss UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019586 MONDO:0016298 False X-linked nonsyndromic hearing loss postlingual non-syndromic genetic hearing loss UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019586 MONDO:0020768 False X-linked nonsyndromic hearing loss X-linked deafness UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019587 MONDO:0000426 False autosomal dominant nonsyndromic hearing loss autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0019587 MONDO:0016297 False autosomal dominant nonsyndromic hearing loss prelingual non-syndromic genetic hearing loss UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019587 MONDO:0016298 False autosomal dominant nonsyndromic hearing loss postlingual non-syndromic genetic hearing loss UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019588 MONDO:0006025 False hearing loss, autosomal recessive autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0019588 MONDO:0016297 False hearing loss, autosomal recessive prelingual non-syndromic genetic hearing loss UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019588 MONDO:0016298 False hearing loss, autosomal recessive postlingual non-syndromic genetic hearing loss UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019591 MONDO:0013099 False panhypopituitarism combined pituitary hormone deficiencies, genetic form UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019600 MONDO:0021190 False xeroderma pigmentosum DNA repair disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019600 MONDO:0015951 False xeroderma pigmentosum hereditary photodermatosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019603 MONDO:0015159 False osteopenia-myopia-hearing loss-intellectual disability-facial dysmorphism syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019604 MONDO:0004960 False acquired monoclonal Ig light chain-associated Fanconi syndrome monoclonal gammopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019605 MONDO:0019722 False immunotactoid or fibrillary glomerulopathy glomerular disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019606 MONDO:0015923 False simple cryoglobulinemia acquired peripheral neuropathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019607 MONDO:0011429 False unspecified juvenile idiopathic arthritis juvenile idiopathic arthritis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019609 MONDO:0015327 False Zellweger spectrum disorders developmental anomaly of metabolic origin UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019610 MONDO:0001770 False Zollinger-Ellison syndrome gastrin secretion abnormality UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0019610 MONDO:0021058 False Zollinger-Ellison syndrome neoplastic syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019611 MONDO:0003837 False TSH-secreting pituitary adenoma TSH producing pituitary tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019612 MONDO:0003429 False functioning gonadotropic adenoma functioning pituitary gland adenoma UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019613 MONDO:0003603 False non-functioning pituitary adenoma non-functioning pituitary gland neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019618 MONDO:0002254 False Sheehan syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0019614 MONDO:0015127 False pituitary deficiency due to Rathke's pouch cysts pituitary deficiency UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019615 MONDO:0021227 False pituitary dermoid and epidermoid cysts adrenal gland neoplasm UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019617 MONDO:0015127 False pituitary deficiency due to empty sella turcica syndrome pituitary deficiency UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019620 MONDO:0003749 False congenital esophageal diverticulum esophageal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019620 MONDO:0021147 False congenital esophageal diverticulum disorder of development or morphogenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019621 MONDO:0017019 False chronic pneumonitis of infancy interstitial lung disease specific to infancy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019621 MONDO:0021166 False chronic pneumonitis of infancy inflammatory disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019623 MONDO:0010481 False hereditary angioedema angioedema UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0019623 MONDO:0100118 False hereditary angioedema hereditary skin disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019624 MONDO:0010481 False acquired angioedema angioedema UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0019625 MONDO:0003847 False familial thoracic aortic aneurysm and aortic dissection hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019625 MONDO:0005385 False familial thoracic aortic aneurysm and aortic dissection vascular disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019626 MONDO:0005328 False isolated ankyloblepharon filiforme adnatum eye disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019627 MONDO:0001854 False isolated congenital alacrima lacrimal apparatus disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019628 MONDO:0011119 False Rieger anomaly iridogoniodysgenesis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019629 MONDO:0000942 False sclerocornea corneal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0019630 MONDO:0011119 False congenital ectropion uveae iridogoniodysgenesis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019631 MONDO:0004860 False persistent hyperplastic primary vitreous vitreous disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0019631 MONDO:0020247 False persistent hyperplastic primary vitreous congenital vitreoretinal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019632 MONDO:0000314 False Lyme disease primary bacterial infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0019632 MONDO:0021839 False Lyme disease spirochaetales infections UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019632 MONDO:0025294 False Lyme disease tick-borne infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019633 MONDO:0000314 False relapsing fever primary bacterial infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0019633 MONDO:0006681 False relapsing fever Borrelia infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019633 MONDO:0100120 False relapsing fever vector-borne disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019634 MONDO:0018751 False familial nasal acilia hereditary otorhinolaryngologic disease UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019635 MONDO:0008698 False idiopathic achalasia achalasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019635 MONDO:0700007 False idiopathic achalasia idiopathic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019637 MONDO:0005240 False renal hypoplasia kidney disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0019637 MONDO:0021147 False renal hypoplasia disorder of development or morphogenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019638 MONDO:0005240 False renal dysplasia kidney disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019638 MONDO:0021147 False renal dysplasia disorder of development or morphogenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019639 MONDO:0005240 False congenital megacalycosis kidney disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019640 MONDO:0018559 False posterior urethral valve fetal lower urinary tract obstruction UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019641 MONDO:0002462 False Pauci-immune glomerulonephritis glomerulonephritis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019642 MONDO:0017323 False vitamin D-dependent rickets, type 2 hypocalcemic rickets UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019642 MONDO:0024299 False vitamin D-dependent rickets, type 2 vitamin D-dependent rickets UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019643 MONDO:0018638 False transient pseudohypoaldosteronism pseudohypoaldosteronism UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019644 MONDO:0019638 False renal dysplasia, unilateral renal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019645 MONDO:0019638 False renal dysplasia, bilateral renal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019646 MONDO:0019639 False unilateral congenital megacalycosis congenital megacalycosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019647 MONDO:0019639 False congenital bilateral megacalycosis congenital megacalycosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019648 MONDO:0005516 False achondrogenesis osteochondrodysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0019648 MONDO:0019694 False achondrogenesis spondylodysplastic dysplasia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019649 MONDO:0019067 False idiopathic steroid-sensitive nephrotic syndrome with focal segmental hyalinosis idiopathic steroid-sensitive nephrotic syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019650 MONDO:0019067 False idiopathic steroid-sensitive nephrotic syndrome with minimal change idiopathic steroid-sensitive nephrotic syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019651 MONDO:0019067 False idiopathic steroid-sensitive nephrotic syndrome with diffuse mesangial proliferation idiopathic steroid-sensitive nephrotic syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -29235,73 +28517,155 @@ MONDO:0019653 MONDO:0019006 False familial idiopathic steroid-resistant nephroti MONDO:0019654 MONDO:0019006 False familial idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial sclerosis familial idiopathic steroid-resistant nephrotic syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019655 MONDO:0019401 False sporadic idiopathic steroid-resistant nephrotic syndrome with focal segmental hyalinosis sporadic idiopathic steroid-resistant nephrotic syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019656 MONDO:0019401 False sporadic idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial sclerosis sporadic idiopathic steroid-resistant nephrotic syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019659 MONDO:0007043 False Pfeiffer syndrome type 1 Pfeiffer syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019660 MONDO:0007043 False Pfeiffer syndrome type 2 Pfeiffer syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019661 MONDO:0007043 False Pfeiffer syndrome type 3 Pfeiffer syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019662 MONDO:0015461 False short rib-polydactyly syndrome, Majewski type short rib-polydactyly syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019666 MONDO:0000226 False spondyloepimetaphyseal dysplasia, PAPSS2 type mineral metabolism disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019666 MONDO:0019052 False spondyloepimetaphyseal dysplasia, PAPSS2 type inborn errors of metabolism UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0019666 MONDO:0100510 False spondyloepimetaphyseal dysplasia, PAPSS2 type spondyloepimetaphyseal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0019667 MONDO:0016761 False spondyloepiphyseal dysplasia tarda spondyloepiphyseal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0019668 MONDO:0004972 False adenoma of pancreas adenoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019668 MONDO:0021040 False adenoma of pancreas pancreatic neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019669 MONDO:0019648 False hypochondrogenesis achondrogenesis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0019669 MONDO:0022800 False hypochondrogenesis type 2 collagenopathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019670 MONDO:0016240 False ulnar hemimelia hemimelia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019671 MONDO:0016240 False radial hemimelia hemimelia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019672 MONDO:0016240 False fibular hemimelia hemimelia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019673 MONDO:0020927 False postaxial polydactyly type A postaxial polydactyly UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019674 MONDO:0020927 False postaxial polydactyly type B postaxial polydactyly UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019675 MONDO:0100510 False spondyloepimetaphyseal dysplasia with joint laxity spondyloepimetaphyseal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0019676 MONDO:0021004 False brachydactyly type B brachydactyly UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019677 MONDO:0021004 False brachydactyly type E brachydactyly UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019678 MONDO:0021004 False brachydactyly type A5 brachydactyly UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019679 MONDO:0021004 False brachydactyly type A7 brachydactyly UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019680 MONDO:0007653 False genochondromatosis type 2 genochondromatosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019681 MONDO:0009738 False juvenile sialidosis type 2 sialidosis type 2 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019682 MONDO:0009738 False congenital sialidosis type 2 sialidosis type 2 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019685 MONDO:0018230 False FGFR3-related chondrodysplasia skeletal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019690 MONDO:0018230 False filamin-related bone disorder skeletal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019691 MONDO:0018230 False short rib dysplasia skeletal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019694 MONDO:0018230 False spondylodysplastic dysplasia skeletal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019695 MONDO:0018230 False acromelic dysplasia skeletal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019696 MONDO:0005516 False acromesomelic dysplasia osteochondrodysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0019696 MONDO:0018230 False acromesomelic dysplasia skeletal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019698 MONDO:0018230 False bent bone dysplasia skeletal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019701 MONDO:0018230 False chondrodysplasia punctata skeletal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019702 MONDO:0005516 False neonatal osteosclerotic dysplasia osteochondrodysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019702 MONDO:0018230 False neonatal osteosclerotic dysplasia skeletal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019707 MONDO:0018230 False primary osteolysis skeletal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019713 MONDO:0018230 False non-syndromic limb reduction defect skeletal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019716 MONDO:0021147 False overgrowth syndrome disorder of development or morphogenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019719 MONDO:0019755 False congenital anomaly of kidney and urinary tract developmental defect during embryogenesis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019719 MONDO:0100191 False congenital anomaly of kidney and urinary tract inherited kidney disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019722 MONDO:0005240 False glomerular disorder kidney disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019725 MONDO:0007915 False pediatric systemic lupus erythematosus systemic lupus erythematosus UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019734 MONDO:0019127 False juvenile polymyositis polymyositis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019735 MONDO:0002254 False polymyalgia rheumatica syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0019735 MONDO:0005554 False polymyalgia rheumatica rheumatic disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0019737 MONDO:0001531 False thrombotic microangiopathy blood coagulation disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019726 MONDO:0007407 False type II mixed cryoglobulinemia Cryoglobulinemic vasculitis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019727 MONDO:0007407 False mixed cryoglobulinemia type III Cryoglobulinemic vasculitis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019728 MONDO:0019463 False heavy chain deposition disease non-amyloid monoclonal immunoglobulin deposition disease UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019729 MONDO:0019463 False light and heavy chain deposition disease non-amyloid monoclonal immunoglobulin deposition disease UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019730 MONDO:0019463 False light chain deposition disease non-amyloid monoclonal immunoglobulin deposition disease UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019731 MONDO:0007099 False AApoAI amyloidosis familial visceral amyloidosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019732 MONDO:0007099 False ALys amyloidosis familial visceral amyloidosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019733 MONDO:0007099 False AFib amyloidosis familial visceral amyloidosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019734 MONDO:0018010 False juvenile polymyositis juvenile idiopathic inflammatory myopathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019736 MONDO:0018904 False dense deposit disease primary membranoproliferative glomerulonephritis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019738 MONDO:0009335 False atypical hemolytic-uremic syndrome with H factor anomaly hemolytic uremic syndrome, atypical, susceptibility to, 1 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019738 MONDO:0016244 False atypical hemolytic-uremic syndrome with H factor anomaly atypical hemolytic-uremic syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019739 MONDO:0009335 False atypical hemolytic-uremic syndrome with anti-factor H antibodies hemolytic uremic syndrome, atypical, susceptibility to, 1 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019739 MONDO:0016244 False atypical hemolytic-uremic syndrome with anti-factor H antibodies atypical hemolytic-uremic syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019740 MONDO:0001198 False acquired thrombotic thrombocytopenic purpura acquired thrombocytopenia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019741 MONDO:0002473 False familial cystic renal disease cystic kidney disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019741 MONDO:0100191 False familial cystic renal disease inherited kidney disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019742 MONDO:0019005 False late-onset nephronophthisis nephronophthisis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019742 MONDO:0019232 False late-onset nephronophthisis inborn disorder of peptide metabolism UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019751 MONDO:0002254 False autoinflammatory syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019745 MONDO:0009067 False cystinuria type A cystinuria UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019746 MONDO:0009067 False cystinuria type B cystinuria UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019751 MONDO:0005554 False autoinflammatory syndrome rheumatic disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019752 MONDO:0015564 False pediatric Castleman disease Castleman disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019754 MONDO:0015157 False multicentric Castleman disease human herpesvirus 8-related tumor UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019755 MONDO:0021147 False developmental defect during embryogenesis disorder of development or morphogenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019756 MONDO:0016296 False lobar holoprosencephaly holoprosencephaly UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019757 MONDO:0016296 False alobar holoprosencephaly holoprosencephaly UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019759 MONDO:0017919 False epispadias exstrophy-epispadias complex UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019760 MONDO:0015167 False terminal transverse defects of arm amniotic band syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019761 MONDO:0016060 False laryngotracheoesophageal cleft type 1 laryngotracheoesophageal cleft UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019762 MONDO:0016060 False laryngotracheoesophageal cleft type 2 laryngotracheoesophageal cleft UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019763 MONDO:0016060 False laryngotracheoesophageal cleft type 3 laryngotracheoesophageal cleft UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019764 MONDO:0016060 False laryngotracheoesophageal cleft type 4 laryngotracheoesophageal cleft UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019766 MONDO:0010653 False X-linked intellectual disability, Porteous type Renpenning syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019767 MONDO:0010653 False hamel cerebro-palato-cardiac syndrome Renpenning syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019768 MONDO:0010653 False X-linked intellectual disability, Golabi-Ito-hall type Renpenning syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019769 MONDO:0010653 False X-linked intellectual disability, Sutherland-Haan type Renpenning syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019770 MONDO:0016160 False X-linked dominant intellectual disability-epilepsy syndrome X-linked intellectual disability-epilepsy syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019771 MONDO:0000477 False oromandibular dystonia focal dystonia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0019771 MONDO:0015990 False oromandibular dystonia focal, segmental or multifocal dystonia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019772 MONDO:0015990 False blepharospasm-oromandibular dystonia syndrome focal, segmental or multifocal dystonia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019773 MONDO:0017069 False myelomeningocele spina bifida cystica UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019780 MONDO:0019755 False anotia developmental defect during embryogenesis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019780 MONDO:0024623 False anotia otorhinolaryngologic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019782 MONDO:0001411 False humero-ulnar synostosis synostosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019783 MONDO:0005041 False neovascular glaucoma glaucoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0019784 MONDO:0016877 False 12q14 microdeletion syndrome partial deletion of the long arm of chromosome 12 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019786 MONDO:0015159 False severe intellectual disability-epilepsy-anal anomalies-distal phalangeal hypoplasia multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019787 MONDO:0000588 False autoimmune enteropathy autoimmune disorder of gastrointestinal tract UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019787 MONDO:0020598 False autoimmune enteropathy malabsorption syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019788 MONDO:0000448 False non-secreting paraganglioma paraganglioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019789 MONDO:0006591 False cytophagic histiocytic panniculitis panniculitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019790 MONDO:0002254 False neuroleptic malignant syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0019789 MONDO:0019296 False cytophagic histiocytic panniculitis subcutaneous tissue disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019791 MONDO:0016798 False recessive mitochondrial ataxia syndrome ataxia neuropathy spectrum UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019791 MONDO:0020044 False recessive mitochondrial ataxia syndrome autosomal recessive metabolic cerebellar ataxia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019792 MONDO:0020380 False autosomal dominant cerebellar ataxia type I autosomal dominant cerebellar ataxia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019793 MONDO:0020380 False autosomal dominant cerebellar ataxia type III autosomal dominant cerebellar ataxia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019794 MONDO:0020380 False autosomal dominant cerebellar ataxia type IV autosomal dominant cerebellar ataxia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019795 MONDO:0021147 False acalvaria disorder of development or morphogenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019796 MONDO:0015338 False acrocephalosyndactyly syndromic craniosynostosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019796 MONDO:0019054 False acrocephalosyndactyly congenital limb malformation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019797 MONDO:0015483 False acrodysostosis mandibulofacial dysostosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019797 MONDO:0018234 False acrodysostosis dysostosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0019797 MONDO:0018751 False acrodysostosis hereditary otorhinolaryngologic disease UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019797 MONDO:0019695 False acrodysostosis acromelic dysplasia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019799 MONDO:0008296 False hepatoerythropoietic porphyria familial porphyria cutanea tarda UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019801 MONDO:0015128 False acute adrenal insufficiency primary adrenal insufficiency UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019801 MONDO:0020683 False acute adrenal insufficiency acute disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019802 MONDO:0015183 False secondary short bowel syndrome short bowel syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019803 MONDO:0016231 False angioma serpiginosum capillary malformation UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019804 MONDO:0024623 False tracheomalacia otorhinolaryngologic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019805 MONDO:0001240 False twin to twin transfusion syndrome neonatal anemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0019805 MONDO:0005046 False twin to twin transfusion syndrome immune system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0019806 MONDO:0005559 False primary progressive aphasia neurodegenerative disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019808 MONDO:0005453 False aortic valve atresia congenital heart disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019809 MONDO:0005648 False congenital aortic valve insufficiency aortic valve insufficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019807 MONDO:0019512 False mesocardia congenital heart malformation UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019808 MONDO:0017735 False aortic valve atresia congenital aortic valve stenosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019809 MONDO:0021147 False congenital aortic valve insufficiency disorder of development or morphogenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019828 MONDO:0002254 False pituitary stalk interruption syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019810 MONDO:0017396 False toxic epidermal necrolysis toxic dermatosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019811 MONDO:0020289 False tricuspid valve agenesis congenital tricuspid malformation UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019813 MONDO:0020289 False congenital tricuspid stenosis congenital tricuspid malformation UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019814 MONDO:0020289 False straddling or overriding tricuspid valve congenital tricuspid malformation UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019815 MONDO:0020289 False accessory tricuspid valve tissue congenital tricuspid malformation UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019817 MONDO:0016582 False congenital mitral valve insufficiency and/or stenosis congenital mitral malformation UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019818 MONDO:0016582 False cleft mitral valve congenital mitral malformation UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019819 MONDO:0019818 False double-orifice mitral valve cleft mitral valve UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019820 MONDO:0019512 False univentricular cardiopathy congenital heart malformation UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019823 MONDO:0020292 False premature closure of the arterial duct congenital anomaly of the great arteries UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019824 MONDO:0015127 False non-acquired pituitary hormone deficiency pituitary deficiency UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019824 MONDO:0015514 False non-acquired pituitary hormone deficiency hereditary endocrine growth disease UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019825 MONDO:0015203 False congenital coronary artery aneurysm coronary artery congenital malformation UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019828 MONDO:0019824 False pituitary stalk interruption syndrome non-acquired pituitary hormone deficiency UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019829 MONDO:0005385 False congenital anomaly of superior vena cava vascular disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019829 MONDO:0021147 False congenital anomaly of superior vena cava disorder of development or morphogenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019830 MONDO:0005385 False congenital anomaly of the inferior vena cava vascular disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019832 MONDO:0005152 False acquired pituitary hormone deficiency hypopituitarism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019832 MONDO:0015127 False acquired pituitary hormone deficiency pituitary deficiency UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019835 MONDO:0000568 False primary hypophysitis autoimmune disorder of central nervous system UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019835 MONDO:0000569 False primary hypophysitis autoimmune disorder of endocrine system UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019835 MONDO:0019832 False primary hypophysitis acquired pituitary hormone deficiency UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019835 MONDO:0021156 False primary hypophysitis hypophysitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019836 MONDO:0005385 False congenital anomaly of hepatic vein vascular disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019836 MONDO:0021147 False congenital anomaly of hepatic vein disorder of development or morphogenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019838 MONDO:0019835 False adenohypophysitis primary hypophysitis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019838 MONDO:0024468 False adenohypophysitis anterior pituitary gland disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019839 MONDO:0019835 False panhypophysitis primary hypophysitis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019840 MONDO:0015856 False acropectororenal dysplasia syndromic breast hypoplasia/aplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019845 MONDO:0019832 False iatrogenic or traumatic pituitary deficiency acquired pituitary hormone deficiency UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019846 MONDO:0015790 False acquired central diabetes insipidus central diabetes insipidus UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019848 MONDO:0003150 False posterior hypospadias male reproductive system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019848 MONDO:0021147 False posterior hypospadias disorder of development or morphogenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019849 MONDO:0003150 False isolated micropenis male reproductive system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -29312,9 +28676,12 @@ MONDO:0019852 MONDO:0005387 False inherited primary ovarian failure primary ovar MONDO:0019852 MONDO:0015514 False inherited primary ovarian failure hereditary endocrine growth disease UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019854 MONDO:0009043 False thyroid ectopia generalized resistance to thyroid hormone UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019855 MONDO:0009043 False athyreosis generalized resistance to thyroid hormone UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019857 MONDO:0016555 False congenital hypothyroidism due to transplacental passage of maternal TSH-binding inhibitory antibodies transient congenital hypothyroidism due to maternal factor UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019858 MONDO:0018612 False idiopathic congenital hypothyroidism congenital hypothyroidism UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019858 MONDO:0700007 False idiopathic congenital hypothyroidism idiopathic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019860 MONDO:0009043 False thyroid hemiagenesis generalized resistance to thyroid hormone UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019861 MONDO:0009043 False thyroid hypoplasia generalized resistance to thyroid hormone UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019862 MONDO:0018677 False levocardia visceral heterotaxy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019864 MONDO:0030502 False tetrasomy 21 tetrasomy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019864 MONDO:0700124 False tetrasomy 21 chromosome 21 disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019865 MONDO:0700011 False mosaic trisomy 4 chromosome 4 disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -29325,11 +28692,41 @@ MONDO:0019867 MONDO:0043452 False mosaic trisomy 8 chromosome 8, trisomy UNSUPPO MONDO:0019868 MONDO:0700017 False mosaic trisomy 10 chromosome 10 disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019868 MONDO:0700065 False mosaic trisomy 10 trisomy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019869 MONDO:0022759 False mosaic trisomy 22 trisomy 22 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019870 MONDO:0017012 False distal trisomy 1p36 partial duplication of the short arm of chromosome 1 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019871 MONDO:0016939 False distal trisomy 2p partial duplication of the short arm of chromosome 2 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019872 MONDO:0016940 False distal trisomy 3p partial duplication of the short arm of chromosome 3 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019873 MONDO:0016941 False 4p16.3 microduplication syndrome partial duplication of the short arm of chromosome 4 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019873 MONDO:0019716 False 4p16.3 microduplication syndrome overgrowth syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019874 MONDO:0016944 False distal trisomy 7p partial duplication of the short arm of chromosome 7 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019875 MONDO:0007534 False Beckwith-Wiedemann syndrome due to 11p15 microduplication Beckwith-Wiedemann syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019875 MONDO:0016948 False Beckwith-Wiedemann syndrome due to 11p15 microduplication partial duplication of the short arm of chromosome 11 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019876 MONDO:0700015 False 8p inverted duplication/deletion syndrome chromosome 8 disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019877 MONDO:0016953 False distal trisomy 2q partial duplication of the long arm of chromosome 2 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019878 MONDO:0016954 False 3q26 microduplication syndrome partial duplication of the long arm of chromosome 3 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019879 MONDO:0016955 False distal trisomy 4q partial duplication of the long arm of chromosome 4 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019880 MONDO:0016956 False distal trisomy 5q partial trisomy of the long arm of chromosome 5 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019881 MONDO:0016957 False distal trisomy 6q partial duplication of the long arm of chromosome 6 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019882 MONDO:0016959 False distal trisomy 8q partial duplication of the long arm of chromosome 8 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019883 MONDO:0016960 False distal trisomy 9q partial trisomy of the long arm of chromosome 9 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019884 MONDO:0016961 False distal trisomy 10q partial duplication of the long arm of chromosome 10 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019885 MONDO:0022173 False distal trisomy 11q chromosome 11q trisomy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019886 MONDO:0022177 False distal trisomy 13q chromosome 13q trisomy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019887 MONDO:0016966 False distal trisomy 16q partial trisomy of the long arm of chromosome 16 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019888 MONDO:0016970 False distal trisomy 20q partial trisomy of the long arm of chromosome 20 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019889 MONDO:0016972 False distal trisomy 22q partial duplication of the long arm of chromosome 22 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019890 MONDO:0016960 False non-distal trisomy 9q partial trisomy of the long arm of chromosome 9 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019891 MONDO:0020639 False monosomy 22 monosomy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019891 MONDO:0700026 False monosomy 22 chromosome 22 disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019892 MONDO:0016889 False distal monosomy 7p partial deletion of the short arm of chromosome 7 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019893 MONDO:0016897 False distal monosomy 19p13.3 partial deletion of the short arm of chromosome 19 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019895 MONDO:0016903 False distal monosomy 4q partial deletion of the long arm of chromosome 4 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019896 MONDO:0016908 False Kleefstra syndrome due to 9q34 microdeletion partial monosomy of the long arm of chromosome 9 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019896 MONDO:0027407 False Kleefstra syndrome due to 9q34 microdeletion Kleefstra syndrome 1 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019897 MONDO:0016877 False distal monosomy 12q partial deletion of the long arm of chromosome 12 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019898 MONDO:0016912 False distal monosomy 14q partial deletion of the long arm of chromosome 14 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019900 MONDO:0016877 False non-distal monosomy 12q partial deletion of the long arm of chromosome 12 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019902 MONDO:0002254 False monosomy 13q34 syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019902 MONDO:0016911 False monosomy 13q34 partial deletion of the long arm of chromosome 13 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019903 MONDO:0700009 False ring chromosome 2 chromosome 2 disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019903 MONDO:0700091 False ring chromosome 2 ring chromosome disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019904 MONDO:0700010 False ring chromosome 3 chromosome 3 disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -29351,10 +28748,12 @@ MONDO:0019911 MONDO:0700011 False maternal uniparental disomy of chromosome 4 ch MONDO:0019911 MONDO:0700086 False maternal uniparental disomy of chromosome 4 uniparental disomy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019912 MONDO:0700013 False maternal uniparental disomy of chromosome 6 chromosome 6 disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019912 MONDO:0700086 False maternal uniparental disomy of chromosome 6 uniparental disomy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019913 MONDO:0008394 False silver-Russell syndrome due to maternal uniparental disomy of chromosome 7 Silver-Russell syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019913 MONDO:0700014 False silver-Russell syndrome due to maternal uniparental disomy of chromosome 7 chromosome 7 disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019913 MONDO:0700086 False silver-Russell syndrome due to maternal uniparental disomy of chromosome 7 uniparental disomy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019914 MONDO:0700016 False maternal uniparental disomy of chromosome 9 chromosome 9 disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019914 MONDO:0700086 False maternal uniparental disomy of chromosome 9 uniparental disomy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019915 MONDO:0014541 False maternal uniparental disomy of chromosome 14 motor developmental delay due to 14q32.2 paternally expressed gene defect UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019915 MONDO:0700021 False maternal uniparental disomy of chromosome 14 chromosome 14 disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019915 MONDO:0700086 False maternal uniparental disomy of chromosome 14 uniparental disomy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019916 MONDO:0700023 False maternal uniparental disomy of chromosome 16 chromosome 16 disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -29371,96 +28770,163 @@ MONDO:0019921 MONDO:0700013 False paternal uniparental disomy of chromosome 6 ch MONDO:0019921 MONDO:0700086 False paternal uniparental disomy of chromosome 6 uniparental disomy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019922 MONDO:0700014 False paternal uniparental disomy of chromosome 7 chromosome 7 disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019922 MONDO:0700086 False paternal uniparental disomy of chromosome 7 uniparental disomy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019923 MONDO:0007534 False Beckwith-Wiedemann syndrome due to paternal uniparental disomy of chromosome 11 Beckwith-Wiedemann syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019923 MONDO:0700018 False Beckwith-Wiedemann syndrome due to paternal uniparental disomy of chromosome 11 chromosome 11 disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019923 MONDO:0700086 False Beckwith-Wiedemann syndrome due to paternal uniparental disomy of chromosome 11 uniparental disomy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019924 MONDO:0700025 False paternal uniparental disomy of chromosome 20 chromosome 20 disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019924 MONDO:0700086 False paternal uniparental disomy of chromosome 20 uniparental disomy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019925 MONDO:0700086 False paternal uniparental disomy of chromosome 21 uniparental disomy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019925 MONDO:0700124 False paternal uniparental disomy of chromosome 21 chromosome 21 disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019926 MONDO:0019852 False X small rings inherited primary ovarian failure UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019926 MONDO:0700027 False X small rings chromosome X disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019926 MONDO:0700091 False X small rings ring chromosome disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019927 MONDO:0005626 False growth hormone-producing pituitary gland neoplasm epithelial neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019927 MONDO:0017611 False growth hormone-producing pituitary gland neoplasm pituitary tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019928 MONDO:0002254 False 48,XXXY syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019928 MONDO:0017975 False 48,XXXY syndrome sex chromosome disorder of sex development UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019928 MONDO:0030502 False 48,XXXY syndrome tetrasomy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019928 MONDO:0700027 False 48,XXXY syndrome chromosome X disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019929 MONDO:0002254 False 49,XXXXY syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019929 MONDO:0017975 False 49,XXXXY syndrome sex chromosome disorder of sex development UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019929 MONDO:0700027 False 49,XXXXY syndrome chromosome X disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019929 MONDO:0700085 False 49,XXXXY syndrome pentasomy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019930 MONDO:0009384 False Leydig cell hypoplasia due to complete LH resistance Leydig cell hypoplasia, type 1 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019931 MONDO:0009384 False Leydig cell hypoplasia due to partial LH resistance Leydig cell hypoplasia, type 1 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019932 MONDO:0002263 False isolated partial vaginal agenesis female reproductive system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019932 MONDO:0021147 False isolated partial vaginal agenesis disorder of development or morphogenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019933 MONDO:0006793 False acromegaly hyperpituitarism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0019934 MONDO:0019040 False polyploidy chromosomal disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019935 MONDO:0700028 False isochromosome Y chromosome Y disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019938 MONDO:0021147 False anorectal malformation disorder of development or morphogenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019939 MONDO:0005090 False early-onset schizophrenia schizophrenia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019940 MONDO:0015161 False hypertrichosis-acromegaloid facial appearance syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019940 MONDO:0019280 False hypertrichosis-acromegaloid facial appearance syndrome hypertrichosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019941 MONDO:0015364 False hereditary sensory and autonomic neuropathy type 2 hereditary sensory and autonomic neuropathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0019942 MONDO:0003847 False distal arthrogryposis hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0019942 MONDO:0003939 False distal arthrogryposis muscle tissue disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0019942 MONDO:0015225 False distal arthrogryposis arthrogryposis syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019943 MONDO:0002254 False hereditary continuous muscle fiber activity syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019943 MONDO:0005336 False hereditary continuous muscle fiber activity myopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019944 MONDO:0002254 False Eisenmenger syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019944 MONDO:0015924 False Eisenmenger syndrome pulmonary arterial hypertension UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019945 MONDO:0005093 False solar urticaria skin disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019946 MONDO:0002314 False ligneous conjunctivitis chronic conjunctivitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019947 MONDO:0020704 False rippling muscle disease 2 inherited rippling muscle disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019948 MONDO:0019952 False reducing body myopathy congenital myopathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0019949 MONDO:0100084 False zebra body myopathy alpha-actinopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019950 MONDO:0002320 False congenital muscular dystrophy congenital nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0019950 MONDO:0020121 False congenital muscular dystrophy muscular dystrophy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0019951 MONDO:0016187 False rigid spine syndrome qualitative or quantitative defects of desmin UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019951 MONDO:0016197 False rigid spine syndrome qualitative or quantitative defects of selenoprotein N1 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019951 MONDO:0019950 False rigid spine syndrome congenital muscular dystrophy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019952 MONDO:0005336 False congenital myopathy myopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0019952 MONDO:0700223 False congenital myopathy hereditary skeletal muscle disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019953 MONDO:0020134 False mega-cisterna magna cystic malformation of the posterior fossa UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019955 MONDO:0019954 False GRFoma pancreatic neuroendocrine tumor UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019956 MONDO:0005156 False encephalitis encephalomyelitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0019956 MONDO:0020683 False encephalitis acute disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019957 MONDO:0019954 False PPoma pancreatic neuroendocrine tumor UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019960 MONDO:0019954 False VIPoma pancreatic neuroendocrine tumor UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019963 MONDO:0002807 False bronchial endocrine tumor bronchial neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019963 MONDO:0019496 False bronchial endocrine tumor neuroendocrine neoplasm UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019964 MONDO:0005197 False thymic neuroendocrine tumor thymus neoplasm UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019964 MONDO:0019496 False thymic neuroendocrine tumor neuroendocrine neoplasm UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019967 MONDO:0018381 False Kienbock disease osteochondrosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019969 MONDO:0018381 False panner disease osteochondrosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019970 MONDO:0018381 False Sinding-Larsen-Johansson disease osteochondrosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019971 MONDO:0006424 False melanoma of soft tissue soft tissue neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019972 MONDO:0001256 False dural sinus malformation arteriovenous hemangioma/malformation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019973 MONDO:0005283 False persistent placoid maculopathy retinal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019975 MONDO:0005093 False pellagra skin disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0019975 MONDO:0006873 False pellagra nutritional deficiency disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0019976 MONDO:0001627 False dementia pugilistica dementia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0019977 MONDO:0001627 False parkinsonism with dementia of Guadeloupe dementia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019977 MONDO:0021095 False parkinsonism with dementia of Guadeloupe parkinsonian disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019978 MONDO:0015160 False Robinow syndrome multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019978 MONDO:0018230 False Robinow syndrome skeletal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019979 MONDO:0019637 False renal hypoplasia, unilateral renal hypoplasia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019980 MONDO:0019637 False renal hypoplasia, bilateral renal hypoplasia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019981 MONDO:0015988 False unilateral multicystic dysplastic kidney multicystic dysplastic kidney UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019982 MONDO:0015988 False bilateral multicystic dysplastic kidney multicystic dysplastic kidney UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019983 MONDO:0021163 False multiloculated renal cyst kidney neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019984 MONDO:0017609 False renal tubular dysgenesis due to twin-twin transfusion renal tubular dysgenesis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019985 MONDO:0017609 False drug-related renal tubular dysgenesis renal tubular dysgenesis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019986 MONDO:0019401 False sporadic idiopathic steroid-resistant nephrotic syndrome with collapsing glomerulopathy sporadic idiopathic steroid-resistant nephrotic syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019991 MONDO:0002462 False immunotactoid glomerulopathy glomerulonephritis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019988 MONDO:0019641 False pauci-immune glomerulonephritis with ANCA Pauci-immune glomerulonephritis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019989 MONDO:0019641 False pauci-immune glomerulonephritis without ANCA Pauci-immune glomerulonephritis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019990 MONDO:0019605 False non-amyloid fibrillary glomerulopathy immunotactoid or fibrillary glomerulopathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019991 MONDO:0019605 False immunotactoid glomerulopathy immunotactoid or fibrillary glomerulopathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019992 MONDO:0004689 False pseudohypoparathyroidism inborn metal metabolism disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0019992 MONDO:0015327 False pseudohypoparathyroidism developmental anomaly of metabolic origin UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019992 MONDO:0015962 False pseudohypoparathyroidism inherited renal tubular disease UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019992 MONDO:0016165 False pseudohypoparathyroidism hereditary hypoparathyroidism UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019993 MONDO:0005240 False congenital renal artery stenosis kidney disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019993 MONDO:0005385 False congenital renal artery stenosis vascular disorder UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019994 MONDO:0700020 False maternal uniparental disomy of chromosome 13 chromosome 13 disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019994 MONDO:0700086 False maternal uniparental disomy of chromosome 13 uniparental disomy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019995 MONDO:0016412 False peripheral resistance to thyroid hormones peripheral hypothyroidism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020001 MONDO:0005087 False respiratory or thoracic malformation respiratory system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020010 MONDO:0005071 False infectious disorder of the nervous system nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020010 MONDO:0005550 False infectious disorder of the nervous system infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020007 MONDO:0020292 False absence of the pulmonary artery congenital anomaly of the great arteries UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020022 MONDO:0005071 False central nervous system malformation nervous system disorder UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020022 MONDO:0019755 False central nervous system malformation developmental defect during embryogenesis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020043 MONDO:0015244 False autosomal recessive congenital cerebellar ataxia autosomal recessive cerebellar ataxia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020044 MONDO:0015244 False autosomal recessive metabolic cerebellar ataxia autosomal recessive cerebellar ataxia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020046 MONDO:0015244 False autosomal recessive degenerative and progressive cerebellar ataxia autosomal recessive cerebellar ataxia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020047 MONDO:0015244 False autosomal recessive syndromic cerebellar ataxia autosomal recessive cerebellar ataxia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020048 MONDO:0005385 False internal carotid agenesis vascular disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020066 MONDO:0002254 False Ehlers-Danlos syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0020049 MONDO:0019040 False autosomal anomaly chromosomal disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020058 MONDO:0019040 False gonosome anomaly chromosomal disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020064 MONDO:0016581 False pulmonary valve agenesis conotruncal heart malformations UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020065 MONDO:0044807 False combined dystonia inherited dystonia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020066 MONDO:0003847 False Ehlers-Danlos syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0020067 MONDO:0019956 False infectious encephalitis encephalitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020067 MONDO:0024619 False infectious encephalitis central nervous system infectious disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020066 MONDO:0019755 False Ehlers-Danlos syndrome developmental defect during embryogenesis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020068 MONDO:0020067 False postinfectious encephalitis infectious encephalitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020068 MONDO:0021669 False postinfectious encephalitis post-infectious disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020070 MONDO:0015650 False neonatal epilepsy syndrome epilepsy syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020071 MONDO:0015650 False infantile epilepsy syndrome epilepsy syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020072 MONDO:0015650 False childhood-onset epilepsy syndrome epilepsy syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020073 MONDO:0015650 False adolescent-onset epilepsy syndrome epilepsy syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020074 MONDO:0015653 False progressive myoclonus epilepsy monogenic epilepsy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020074 MONDO:0020072 False progressive myoclonus epilepsy childhood-onset epilepsy syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020074 MONDO:0020073 False progressive myoclonus epilepsy adolescent-onset epilepsy syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020074 MONDO:0100036 False progressive myoclonus epilepsy variable age onset epilepsy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0020076 MONDO:0015756 False myeloproliferative neoplasm myeloid hemopathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020077 MONDO:0015756 False myelodysplastic/myeloproliferative disease myeloid hemopathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020082 MONDO:0006247 False dendritic cell tumor histiocytic and dendritic cell neoplasm UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020083 MONDO:0015757 False immunodeficiency-associated lymphoproliferative disease lymphoid hemopathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020087 MONDO:0006573 False hereditary lipodystrophy lipodystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020087 MONDO:0019052 False hereditary lipodystrophy inborn errors of metabolism UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020087 MONDO:0100118 False hereditary lipodystrophy hereditary skin disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020088 MONDO:0020087 False familial partial lipodystrophy hereditary lipodystrophy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020088 MONDO:0021106 False familial partial lipodystrophy laminopathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020089 MONDO:0006504 False acquired lipodystrophy acquired metabolic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020089 MONDO:0006573 False acquired lipodystrophy lipodystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020099 MONDO:0003847 False inherited sideroblastic anemia hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020099 MONDO:0015194 False inherited sideroblastic anemia sideroblastic anemia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020102 MONDO:0003664 False hereditary stomatocytosis hemolytic anemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020110 MONDO:0005087 False pulmonary agenesis respiratory system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020108 MONDO:0000602 False autoimmune hemolytic anemia autoimmune disorder of blood UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0020110 MONDO:0021147 False pulmonary agenesis disorder of development or morphogenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020112 MONDO:0001700 False vitamin B12- and folate-independent constitutional megaloblastic anemia megaloblastic anemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020112 MONDO:0016624 False vitamin B12- and folate-independent constitutional megaloblastic anemia inherited deficiency anemia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020113 MONDO:0015610 False primary acquired red cell aplasia acquired aplastic anemia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020117 MONDO:0100241 False alpha granule disease inherited thrombocytopenia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020119 MONDO:0000508 False X-linked syndromic intellectual disability syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0020119 MONDO:0100284 False X-linked syndromic intellectual disability X-linked intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020120 MONDO:0003939 False skeletal muscle disorder muscle tissue disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020121 MONDO:0019056 False muscular dystrophy neuromuscular disease UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0020121 MONDO:0700223 False muscular dystrophy hereditary skeletal muscle disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020122 MONDO:0016105 False acquired idiopathic inflammatory myopathy acquired skeletal muscle disease UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020122 MONDO:0600023 False acquired idiopathic inflammatory myopathy idiopathic inflammatory myopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020122 MONDO:0700007 False acquired idiopathic inflammatory myopathy idiopathic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020123 MONDO:0005336 False metabolic myopathy myopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020124 MONDO:0019056 False neuromuscular junction disease neuromuscular disease UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0020124 MONDO:0021017 False neuromuscular junction disease synaptopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020127 MONDO:0003847 False hereditary peripheral neuropathy hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020127 MONDO:0005244 False hereditary peripheral neuropathy peripheral neuropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020128 MONDO:0005559 False motor neuron disorder neurodegenerative disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0020128 MONDO:0019056 False motor neuron disorder neuromuscular disease UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0020129 MONDO:0020128 False acquired motor neuron disease motor neuron disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020134 MONDO:0020022 False cystic malformation of the posterior fossa central nervous system malformation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020135 MONDO:0003847 False pontocerebellar hypoplasia hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0020135 MONDO:0020022 False pontocerebellar hypoplasia central nervous system malformation UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020143 MONDO:0005560 False cerebral lipidosis with dementia brain disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0020143 MONDO:0015547 False cerebral lipidosis with dementia hereditary dementia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020143 MONDO:0019245 False cerebral lipidosis with dementia lysosomal lipid storage disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0020153 MONDO:0003382 False cryptophthalmia eyelid disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0020159 MONDO:0001519 False congenital entropion entropion UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -29472,7 +28938,9 @@ MONDO:0020175 MONDO:0020172 False malignant tumor of palpebral epidermis palpebr MONDO:0020175 MONDO:0021313 False malignant tumor of palpebral epidermis eyelid cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020179 MONDO:0020173 False palpebral nevus benign tumor of palpebral epidermis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020183 MONDO:0002235 False neurogenic palpebral tumor eyelid neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020242 MONDO:0019118 False hereditary macular dystrophy inherited retinal dystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020212 MONDO:0018102 False superficial corneal dystrophy corneal dystrophy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020213 MONDO:0018102 False stromal corneal dystrophy corneal dystrophy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0020214 MONDO:0018102 False posterior corneal dystrophy corneal dystrophy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020246 MONDO:0003847 False inherited vitreoretinopathy hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020246 MONDO:0005283 False inherited vitreoretinopathy retinal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020247 MONDO:0002320 False congenital vitreoretinal dysplasia congenital nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -29483,66 +28951,182 @@ MONDO:0020248 MONDO:0024237 False vitreoretinal degeneration inherited neurodege MONDO:0020249 MONDO:0005328 False hereditary optic neuropathy eye disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020250 MONDO:0000426 False autosomal dominant optic atrophy autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020250 MONDO:0004884 False autosomal dominant optic atrophy eye degenerative disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020250 MONDO:0043878 False autosomal dominant optic atrophy hereditary optic atrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020250 MONDO:0020249 False autosomal dominant optic atrophy hereditary optic neuropathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020257 MONDO:0001309 False supranuclear oculomotor palsy oculomotor nerve paralysis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020283 MONDO:0021166 False uveitis inflammatory disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020289 MONDO:0000471 False congenital tricuspid malformation tricuspid valve disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020289 MONDO:0021147 False congenital tricuspid malformation disorder of development or morphogenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020290 MONDO:0003847 False familial atrioventricular septal defect hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0020291 MONDO:0002254 False hypoplastic right heart syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0020295 MONDO:0005453 False congenital pulmonary veins anomaly congenital heart disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020296 MONDO:0024239 False congenital arteriovenous fistula congenital anomaly of cardiovascular system UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020291 MONDO:0019820 False hypoplastic right heart syndrome univentricular cardiopathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020292 MONDO:0019512 False congenital anomaly of the great arteries congenital heart malformation UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020297 MONDO:0021060 False Noonan syndrome and Noonan-related syndrome RASopathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020297 MONDO:0021147 False Noonan syndrome and Noonan-related syndrome disorder of development or morphogenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020297 MONDO:0024573 False Noonan syndrome and Noonan-related syndrome familial hypertrophic cardiomyopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020298 MONDO:0008300 False Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 Prader-Willi syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020298 MONDO:0700022 False Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 chromosome 15 disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020298 MONDO:0700086 False Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 uniparental disomy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020300 MONDO:0002612 False autosomal dominant nocturnal frontal lobe epilepsy frontal lobe epilepsy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0020300 MONDO:0017704 False autosomal dominant nocturnal frontal lobe epilepsy familial partial epilepsy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020301 MONDO:0008300 False Prader-Willi syndrome due to paternal 15q11q13 deletion Prader-Willi syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020301 MONDO:0016913 False Prader-Willi syndrome due to paternal 15q11q13 deletion partial deletion of the long arm of chromosome 15 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020302 MONDO:0007113 False Angelman syndrome due to maternal 15q11q13 deletion Angelman syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020302 MONDO:0016913 False Angelman syndrome due to maternal 15q11q13 deletion partial deletion of the long arm of chromosome 15 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020303 MONDO:0007113 False Angelman syndrome due to paternal uniparental disomy of chromosome 15 Angelman syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020303 MONDO:0700022 False Angelman syndrome due to paternal uniparental disomy of chromosome 15 chromosome 15 disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020303 MONDO:0700086 False Angelman syndrome due to paternal uniparental disomy of chromosome 15 uniparental disomy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020304 MONDO:0019935 False isochromosomy Yp isochromosome Y UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020305 MONDO:0019935 False isochromosomy Yq isochromosome Y UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020307 MONDO:0007558 False benign childhood occipital epilepsy, Panayiotopoulos type benign occipital epilepsy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020308 MONDO:0007558 False benign childhood occipital epilepsy, Gastaut type benign occipital epilepsy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020310 MONDO:0017704 False familial focal epilepsy with variable foci familial partial epilepsy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020310 MONDO:0100036 False familial focal epilepsy with variable foci variable age onset epilepsy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020311 MONDO:0001014 False chronic myelomonocytic leukemia chronic leukemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0020311 MONDO:0020077 False chronic myelomonocytic leukemia myelodysplastic/myeloproliferative disease UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020316 MONDO:0018874 False acute myeloid leukemia with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22) acute myeloid leukemia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020322 MONDO:0004967 False acute biphenotypic leukemia acute lymphoblastic leukemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0020322 MONDO:0017814 False acute biphenotypic leukemia primary bone lymphoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0020326 MONDO:0018897 False lymphomatoid papulosis primary cutaneous CD30+ T-cell lymphoproliferative disease UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020327 MONDO:0009348 False classic Hodgkin lymphoma, nodular sclerosis type classic Hodgkin lymphoma UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020336 MONDO:0000426 False autosomal dominant Emery-Dreifuss muscular dystrophy autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020336 MONDO:0016830 False autosomal dominant Emery-Dreifuss muscular dystrophy Emery-Dreifuss muscular dystrophy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020336 MONDO:0021106 False autosomal dominant Emery-Dreifuss muscular dystrophy laminopathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020337 MONDO:0000577 False congenital dyserythropoietic anemia type 1 congenital anemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020338 MONDO:0001705 False adult pure red cell aplasia pure red-cell aplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020337 MONDO:0019403 False congenital dyserythropoietic anemia type 1 congenital dyserythropoietic anemia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0020338 MONDO:0020113 False adult pure red cell aplasia primary acquired red cell aplasia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020340 MONDO:0017091 False bilateral perisylvian polymicrogyria bilateral polymicrogyria UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020341 MONDO:0002320 False periventricular nodular heterotopia congenital nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0020341 MONDO:0003847 False periventricular nodular heterotopia hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0020341 MONDO:0016292 False periventricular nodular heterotopia nodular neuronal heterotopia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020344 MONDO:0002320 False postsynaptic congenital myasthenic syndrome congenital nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020344 MONDO:0018940 False postsynaptic congenital myasthenic syndrome congenital myasthenic syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020347 MONDO:0020683 False acute inflammatory demyelinating polyradiculoneuropathy acute disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020348 MONDO:0020683 False acute motor and sensory axonal neuropathy acute disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020349 MONDO:0020683 False acute motor axonal neuropathy acute disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020351 MONDO:0020134 False Blake pouch cyst cystic malformation of the posterior fossa UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020352 MONDO:0007803 False multiple system atrophy, parkinsonian type multiple system atrophy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020352 MONDO:0021095 False multiple system atrophy, parkinsonian type parkinsonian disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020354 MONDO:0007350 False coloboma of choroid and retina coloboma, ocular, autosomal dominant UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020355 MONDO:0001476 False coloboma of eye lens coloboma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020356 MONDO:0007350 False coloboma of iris coloboma, ocular, autosomal dominant UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020357 MONDO:0001476 False coloboma of eyelid coloboma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020359 MONDO:0007410 False congenital symblepharon isolated cryptophthalmia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0020360 MONDO:0007410 False complete cryptophthalmia isolated cryptophthalmia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0020361 MONDO:0007410 False partial cryptophthalmia isolated cryptophthalmia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0020362 MONDO:0007946 False inverse Marcus-Gunn phenomenon jaw-winking syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020363 MONDO:0020212 False honey-droplet corneal dystrophy superficial corneal dystrophy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020364 MONDO:0000766 False posterior polymorphous corneal dystrophy corneal endothelial dystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0020364 MONDO:0003847 False posterior polymorphous corneal dystrophy hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0020364 MONDO:0020214 False posterior polymorphous corneal dystrophy posterior corneal dystrophy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020365 MONDO:0020214 False congenital hereditary endothelial dystrophy type I posterior corneal dystrophy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020366 MONDO:0018174 False congenital glaucoma hereditary glaucoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020367 MONDO:0005338 False juvenile open angle glaucoma open-angle glaucoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0020367 MONDO:0018174 False juvenile open angle glaucoma hereditary glaucoma UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020368 MONDO:0005328 False Axenfeld anomaly eye disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020369 MONDO:0018102 False Chandler syndrome corneal dystrophy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0020369 MONDO:0018988 False Chandler syndrome iridocorneal endothelial syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020370 MONDO:0018988 False Cogan-Reese syndrome iridocorneal endothelial syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020371 MONDO:0018988 False essential iris atrophy iridocorneal endothelial syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020372 MONDO:0020379 False early-onset sutural cataract early-onset zonular cataract UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020373 MONDO:0020377 False early-onset anterior polar cataract early-onset partial cataract UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020374 MONDO:0020377 False cerulean cataract early-onset partial cataract UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020376 MONDO:0020379 False early-onset nuclear cataract early-onset zonular cataract UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020377 MONDO:0011060 False early-onset partial cataract early-onset non-syndromic cataract UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020378 MONDO:0013411 False early-onset posterior polar cataract cataract 16 multiple types UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020379 MONDO:0020377 False early-onset zonular cataract early-onset partial cataract UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020380 MONDO:0000426 False autosomal dominant cerebellar ataxia autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0020380 MONDO:0015547 False autosomal dominant cerebellar ataxia hereditary dementia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020380 MONDO:0022687 False autosomal dominant cerebellar ataxia cerebellar degeneration UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0020380 MONDO:0024237 False autosomal dominant cerebellar ataxia inherited neurodegenerative disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020380 MONDO:0100310 False autosomal dominant cerebellar ataxia hereditary cerebellar ataxia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020381 MONDO:0003004 False patterned macular dystrophy macular degeneration UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0020381 MONDO:0018973 False patterned macular dystrophy patterned dystrophy of the retinal pigment epithelium UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020382 MONDO:0018973 False multifocal pattern dystrophy simulating fundus flavimaculatus patterned dystrophy of the retinal pigment epithelium UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020383 MONDO:0018973 False fundus pulverulentus patterned dystrophy of the retinal pigment epithelium UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020384 MONDO:0001982 False Niemann-Pick disease type E Niemann-Pick disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020385 MONDO:0019443 False congenitally uncorrected transposition of the great arteries with coarctation dextro-looped transposition of the great arteries UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020386 MONDO:0018089 False double outlet right ventricle with subaortic or doubly committed ventricular septal defect with pulmonary stenosis double outlet right ventricle UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020387 MONDO:0018089 False double outlet right ventricle with subpulmonary ventricular septal defect double outlet right ventricle UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020388 MONDO:0018089 False double outlet right ventricle with non-committed subpulmonary ventricular septal defect double outlet right ventricle UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020389 MONDO:0020064 False pulmonary valve agenesis-ventricular septal defect-persistent ductus arteriosus syndrome pulmonary valve agenesis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020390 MONDO:0015239 False pulmonary artery coming from patent ductus arteriosus abnormal origin of the pulmonary artery UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020391 MONDO:0015239 False pulmonary artery coming from the aorta abnormal origin of the pulmonary artery UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020393 MONDO:0017727 False discrete fibromuscular subaortic stenosis fixed subaortic stenosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020394 MONDO:0017727 False tunnel subaortic stenosis fixed subaortic stenosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020395 MONDO:0017865 False valvar pulmonary stenosis congenital pulmonary valve stenosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020396 MONDO:0020289 False anomaly of the tricuspid valve chordae congenital tricuspid malformation UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020397 MONDO:0020289 False parachute tricuspid valve congenital tricuspid malformation UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020398 MONDO:0005852 False congenital mitral stenosis mitral valve stenosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020398 MONDO:0042966 False congenital mitral stenosis inherited mitral valve disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020404 MONDO:0002254 False shone complex syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020406 MONDO:0015273 False complete atrioventricular canal-left heart obstruction syndrome complete atrioventricular canal UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020399 MONDO:0019817 False congenital hypoplasia of the mitral valve annulus congenital mitral valve insufficiency and/or stenosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020400 MONDO:0019817 False congenital supravalvular mitral ring congenital mitral valve insufficiency and/or stenosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020401 MONDO:0019817 False congenital unguarded mitral orifice congenital mitral valve insufficiency and/or stenosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020402 MONDO:0019817 False congenital accessory mitral valve tissue congenital mitral valve insufficiency and/or stenosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020403 MONDO:0019817 False congenital mitral valve agenesis congenital mitral valve insufficiency and/or stenosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020404 MONDO:0019817 False shone complex congenital mitral valve insufficiency and/or stenosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020405 MONDO:0019818 False straddling and/or overriding mitral valve cleft mitral valve UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020407 MONDO:0015273 False complete atrioventricular canal-ventricle hypoplasia syndrome complete atrioventricular canal UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020408 MONDO:0015273 False complete atrioventricular canal-tetralogy of fallot syndrome complete atrioventricular canal UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020410 MONDO:0018082 False aorto-right ventricular tunnel aorto-ventricular tunnel UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020411 MONDO:0018082 False aorto-left ventricular tunnel aorto-ventricular tunnel UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020412 MONDO:0020292 False congenital patent ductus arteriosus aneurysm congenital anomaly of the great arteries UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020413 MONDO:0015236 False encircling double aortic arch aortic arch defects UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020414 MONDO:0015236 False persistent fifth aortic arch aortic arch defects UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020415 MONDO:0015236 False Kommerell diverticulum aortic arch defects UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020416 MONDO:0015236 False Neuhauser anomaly aortic arch defects UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020417 MONDO:0015236 False right aortic arch aortic arch defects UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020418 MONDO:0015236 False dysphagia lusoria aortic arch defects UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020419 MONDO:0020292 False pulmonary artery hypoplasia congenital anomaly of the great arteries UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020420 MONDO:0020292 False pulmonary branch stenosis congenital anomaly of the great arteries UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020423 MONDO:0015203 False stenosis or atrophy of the coronary ostium coronary artery congenital malformation UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020425 MONDO:0015203 False abnormal number of coronary ostia coronary artery congenital malformation UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020426 MONDO:0015203 False malposition of the coronary ostium coronary artery congenital malformation UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020427 MONDO:0019512 False Laubry-Pezzi syndrome congenital heart malformation UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020428 MONDO:0019512 False congenital Gerbode defect congenital heart malformation UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020429 MONDO:0015450 False cor triatriatum dexter triatrial heart UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020430 MONDO:0015450 False cor triatriatum sinister triatrial heart UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020431 MONDO:0019512 False juxtaposition of the atrial appendages congenital heart malformation UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020432 MONDO:0019512 False ectasia of the right atrial appendage congenital heart malformation UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020433 MONDO:0019512 False ectasia of the left appendage congenital heart malformation UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020434 MONDO:0006664 False atrial septal defect, ostium secundum type atrial septal defect UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020435 MONDO:0002254 False atrial septal defect, coronary sinus type syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020435 MONDO:0006664 False atrial septal defect, coronary sinus type atrial septal defect UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020436 MONDO:0006664 False atrial septal defect, sinus venosus type atrial septal defect UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020437 MONDO:0006664 False atrial septal defect, ostium primum type atrial septal defect UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020438 MONDO:0019512 False atrial septal aneurysm congenital heart malformation UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020439 MONDO:0006664 False patent foramen ovale atrial septal defect UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0020440 MONDO:0019829 False persistent left superior vena cava connecting to the left-sided atrium congenital anomaly of superior vena cava UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020441 MONDO:0019829 False right superior vena cava connecting to left-sided atrium congenital anomaly of superior vena cava UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020442 MONDO:0019829 False left superior vena cava persisting to left-sided atrium congenital anomaly of superior vena cava UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020443 MONDO:0019829 False absence of innominate vein congenital anomaly of superior vena cava UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020444 MONDO:0019829 False subaortic course of innominate vein congenital anomaly of superior vena cava UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020445 MONDO:0019829 False agenesis of the superior vena cava congenital anomaly of superior vena cava UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020446 MONDO:0005385 False coronary sinus stenosis vascular disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020446 MONDO:0021147 False coronary sinus stenosis disorder of development or morphogenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020447 MONDO:0005385 False coronary sinus atresia vascular disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020447 MONDO:0021147 False coronary sinus atresia disorder of development or morphogenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020448 MONDO:0019830 False right inferior vena cava connecting to left-sided atrium congenital anomaly of the inferior vena cava UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020449 MONDO:0019830 False persistent eustachian valve congenital anomaly of the inferior vena cava UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020450 MONDO:0019830 False azygos continuation of the inferior vena cava congenital anomaly of the inferior vena cava UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020451 MONDO:0019830 False congenital stenosis of the inferior vena cava congenital anomaly of the inferior vena cava UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020452 MONDO:0019830 False inferior vena cava interruption congenital anomaly of the inferior vena cava UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020453 MONDO:0017705 False congenital partial pulmonary venous return anomaly congenital pulmonary venous return anomaly UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020454 MONDO:0017300 False congenital complete agenesis of pericardium congenital pericardium anomaly UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020455 MONDO:0017300 False congenital partial agenesis of pericardium congenital pericardium anomaly UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020456 MONDO:0017300 False pleuro-pericardial cyst congenital pericardium anomaly UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020457 MONDO:0003664 False 6-phosphogluconate dehydrogenase deficiency hemolytic anemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020458 MONDO:0003689 False hemolytic anemia due to erythrocyte adenosine deaminase overproduction familial hemolytic anemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020458 MONDO:0019236 False hemolytic anemia due to erythrocyte adenosine deaminase overproduction inborn disorder of purine metabolism UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020458 MONDO:0020584 False hemolytic anemia due to erythrocyte adenosine deaminase overproduction anemia due to enzyme disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020459 MONDO:0019050 False unstable hemoglobin disease inherited hemoglobinopathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020460 MONDO:0002243 False acquired von willebrand syndrome hemorrhagic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0020460 MONDO:0020599 False acquired von willebrand syndrome acquired coagulation factor deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020460 MONDO:0024574 False acquired von willebrand syndrome von Willebrand disease (hereditary or acquired) UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020461 MONDO:0003382 False epiblepharon eyelid disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020462 MONDO:0020159 False tarsal kink syndrome congenital entropion UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020463 MONDO:0020161 False isolated congenital ectropion congenital ectropion UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020464 MONDO:0020161 False euryblepharon congenital ectropion UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020465 MONDO:0003382 False congenital eyelid retraction eyelid disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020466 MONDO:0019499 False monosomy X Turner syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020466 MONDO:0020639 False monosomy X monosomy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020466 MONDO:0700027 False monosomy X chromosome X disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020467 MONDO:0020466 False mosaic monosomy X monosomy X UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -29551,33 +29135,57 @@ MONDO:0020468 MONDO:0700086 False paternal uniparental disomy of chromosome 13 u MONDO:0020469 MONDO:0002254 False 48,XYYY syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020469 MONDO:0030502 False 48,XYYY syndrome tetrasomy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020469 MONDO:0700028 False 48,XYYY syndrome chromosome Y disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020470 MONDO:0015161 False 49,XYYYY syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020470 MONDO:0700028 False 49,XYYYY syndrome chromosome Y disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020470 MONDO:0700085 False 49,XYYYY syndrome pentasomy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020472 MONDO:0019499 False Turner syndrome due to structural X chromosome anomalies Turner syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020473 MONDO:0019701 False dappled diaphyseal dysplasia chondrodysplasia punctata UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020474 MONDO:0018230 False cheirospondyloenchondromatosis skeletal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020475 MONDO:0019287 False dermotrichic syndrome ectodermal dysplasia syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020476 MONDO:0017704 False mesial temporal lobe epilepsy with hippocampal sclerosis familial partial epilepsy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020478 MONDO:0016387 False Leber plus disease mitochondrial oxidative phosphorylation disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020479 MONDO:0006793 False pituitary gigantism hyperpituitarism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020479 MONDO:0019927 False pituitary gigantism growth hormone-producing pituitary gland neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020480 MONDO:0004689 False sulfite oxidase deficiency due to molybdenum cofactor deficiency inborn metal metabolism disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0020480 MONDO:0019358 False sulfite oxidase deficiency due to molybdenum cofactor deficiency encephalopathy due to sulfite oxidase deficiency UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020482 MONDO:0018959 False myotonia permanens potassium-aggravated myotonia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020483 MONDO:0018959 False acetazolamide-responsive myotonia potassium-aggravated myotonia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020485 MONDO:0002320 False King-Denborough syndrome congenital nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020485 MONDO:0015160 False King-Denborough syndrome multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020485 MONDO:0100150 False King-Denborough syndrome RYR1-related myopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020489 MONDO:0018541 False familial hyperreninemic hypoaldosteronism type 1 familial hypoaldosteronism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020488 MONDO:0019037 False atypical progressive supranuclear palsy syndrome progressive supranuclear palsy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020490 MONDO:0700016 False mosaic trisomy 9 chromosome 9 disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020490 MONDO:0700065 False mosaic trisomy 9 trisomy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020491 MONDO:0002254 False subcortical band heterotopia syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0020491 MONDO:0002320 False subcortical band heterotopia congenital nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0020492 MONDO:0100283 False hemimegalencephaly overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020493 MONDO:0021189 False Haddad syndrome intestinal motility disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020494 MONDO:0016910 False oculootodental syndrome partial deletion of the long arm of chromosome 11 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020495 MONDO:0003847 False PEHO-like syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020495 MONDO:0005071 False PEHO-like syndrome nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020496 MONDO:0003847 False familial porencephaly hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0020496 MONDO:0011057 False familial porencephaly cerebrovascular disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0020496 MONDO:0017410 False familial porencephaly porencephaly UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0020497 MONDO:0021055 False Turcot syndrome with polyposis classic familial adenomatous polyposis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020499 MONDO:0005785 False Nipah virus disease henipavirus infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020500 MONDO:0005762 False Marburg hemorrhagic fever Filoviridae infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020500 MONDO:0018087 False Marburg hemorrhagic fever viral hemorrhagic fever UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020501 MONDO:0100120 False Crimean-Congo hemorrhagic fever vector-borne disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020502 MONDO:0005763 False yellow fever Flaviviridae infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020502 MONDO:0018093 False yellow fever arbovirus fever UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020502 MONDO:0100120 False yellow fever vector-borne disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020504 MONDO:0019052 False hereditary recurrent myoglobinuria inborn errors of metabolism UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020505 MONDO:0019046 False ravine syndrome leukodystrophy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020507 MONDO:0800448 False leukoencephalopathy with vanishing white matter 1 leukoencephalopathy with vanishing white matter UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS +MONDO:0020508 MONDO:0017987 False primary syringomyelia syringomyelia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020509 MONDO:0017987 False secondary syringomyelia syringomyelia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020510 MONDO:0020508 False idiopathic syringomyelia primary syringomyelia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020510 MONDO:0700007 False idiopathic syringomyelia idiopathic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020511 MONDO:0017595 False precursor B-cell acute lymphoblastic leukemia aggressive B-cell non-Hodgkin lymphoma UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020512 MONDO:0004967 False precursor T-cell acute lymphoblastic leukemia acute lymphoblastic leukemia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020513 MONDO:0003669 False spermatocytic seminoma testicular seminoma UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0020516 MONDO:0002120 False thymic neuroendocrine carcinoma neuroendocrine carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020516 MONDO:0019964 False thymic neuroendocrine carcinoma thymic neuroendocrine tumor UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020517 MONDO:0005087 False eosinophilic granuloma respiratory system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020518 MONDO:0017025 False Hashimoto-Pritzker syndrome Langerhans cell histiocytosis specific to childhood UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020520 MONDO:0017029 False adult pulmonary Langerhans cell histiocytosis Langerhans cell histiocytosis specific to adulthood UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020520 MONDO:0020517 False adult pulmonary Langerhans cell histiocytosis eosinophilic granuloma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -29585,52 +29193,65 @@ MONDO:0020521 MONDO:0007525 False Ehlers-Danlos syndrome type 7A Ehlers-Danlos s MONDO:0020522 MONDO:0007525 False Ehlers-Danlos syndrome type 7B Ehlers-Danlos syndrome, arthrochalasis type UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020523 MONDO:0003847 False familial parathyroid adenoma hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020523 MONDO:0006890 False familial parathyroid adenoma parathyroid gland adenoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020526 MONDO:0018872 False acute megakaryoblastic leukemia in down syndrome acute megakaryoblastic leukemia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020527 MONDO:0020528 False ectopic Cushing syndrome ACTH-dependent Cushing syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0020528 MONDO:0006793 False ACTH-dependent Cushing syndrome hyperpituitarism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0020529 MONDO:0018912 False ACTH-independent Cushing syndrome Cushing syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020530 MONDO:0019146 False Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR1 deficiency inherited susceptibility to mycobacterial diseases UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020531 MONDO:0017713 False long chain acyl-CoA dehydrogenase deficiency disorder of fatty acid oxidation and ketogenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020531 MONDO:0024573 False long chain acyl-CoA dehydrogenase deficiency familial hypertrophic cardiomyopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020532 MONDO:0000314 False spirillary rat-bite fever primary bacterial infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0020532 MONDO:0006941 False spirillary rat-bite fever rat-bite fever UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020533 MONDO:0000314 False streptobacillary rat-bite fever primary bacterial infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0020533 MONDO:0001667 False streptobacillary rat-bite fever streptobacillus infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020533 MONDO:0006941 False streptobacillary rat-bite fever rat-bite fever UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020535 MONDO:0017853 False house allergic alveolitis hypersensitivity pneumonitis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020538 MONDO:0018171 False malignant dysgerminomatous germ cell tumor of ovary malignant germ cell tumor of ovary UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020539 MONDO:0018201 False extragonadal non-dysgerminomatous germ cell tumor extragonadal germ cell tumor UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020539 MONDO:0021656 False extragonadal non-dysgerminomatous germ cell tumor nongerminomatous germ cell tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020541 MONDO:0021069 False maligant granulosa cell tumor of ovary malignant endocrine neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020542 MONDO:0018172 False malignant Sertoli-Leydig cell tumor of ovary malignant sex cord stromal tumor of ovary UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020542 MONDO:0036595 False malignant Sertoli-Leydig cell tumor of ovary ovarian Sertoli-Leydig cell tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020543 MONDO:0018172 False theca steroid-producing cell malignant tumor of ovary, not further specified malignant sex cord stromal tumor of ovary UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020544 MONDO:0001881 False streptococcal toxic-shock syndrome toxic shock syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020544 MONDO:0021680 False streptococcal toxic-shock syndrome streptococcal infection UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020545 MONDO:0001881 False staphylococcal toxic-shock syndrome toxic shock syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020545 MONDO:0017592 False staphylococcal toxic-shock syndrome staphylococcal toxemia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020546 MONDO:0020683 False acute graft versus host disease acute disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020548 MONDO:0005328 False ocular pemphigoid eye disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020549 MONDO:0018944 False invasive hydatidiform mole gestational trophoblastic neoplasm UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020550 MONDO:0003578 False gestational choriocarcinoma extragonadal nonseminomatous germ cell tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0020552 MONDO:0005207 False placental site trophoblastic tumor choriocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0020553 MONDO:0015925 False secondary pulmonary hemosiderosis interstitial lung disease UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020554 MONDO:0020553 False Heiner syndrome secondary pulmonary hemosiderosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020558 MONDO:0018993 False autosomal dominant Charcot-Marie-Tooth disease type 2K Charcot-Marie-Tooth disease type 2 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020559 MONDO:0011224 False O'Sullivan-McLeod syndrome monomelic amyotrophy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020560 MONDO:0002217 False atypical teratoid rhabdoid tumor central nervous system sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0020561 MONDO:0005060 False myxoid/round cell liposarcoma liposarcoma UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020567 MONDO:0019092 False apnea of prematurity infantile apnea UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020568 MONDO:0019147 False cutaneous myiasis myiasis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020569 MONDO:0019207 False intermediate DEND syndrome DEND syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020572 MONDO:0002254 False complex regional pain syndrome type 2 syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0020571 MONDO:0019362 False relapsing epidemic typhus epidemic louse-borne typhus UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020572 MONDO:0019369 False complex regional pain syndrome type 2 complex regional pain syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0020573 MONDO:0042489 False inherited disease susceptibility disease susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020574 MONDO:0020539 False central nervous system nongerminomatous germ cell tumor extragonadal non-dysgerminomatous germ cell tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020575 MONDO:0005477 False polymorphic ventricular tachycardia ventricular tachycardia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020576 MONDO:0002406 False cutaneous vasculitis dermatitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020576 MONDO:0018882 False cutaneous vasculitis vasculitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020577 MONDO:0018202 False childhood gonadal germ cell tumor gonadal germ cell tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020579 MONDO:0021166 False mucositis inflammatory disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020582 MONDO:0000636 False benign uterine ligament neoplasm musculoskeletal system benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020582 MONDO:0000644 False benign uterine ligament neoplasm cervical benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020584 MONDO:0002280 False anemia due to enzyme disorder anemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020585 MONDO:0020584 False anemia due to erythrocyte enzyme disorder anemia due to enzyme disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020586 MONDO:0002242 False factor V deficiency coagulation protein disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020587 MONDO:0018660 False factor XI deficiency hemophilia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020590 MONDO:0005113 False mycobacterial infectious disease bacterial infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020592 MONDO:0005087 False disorder of pharynx respiratory system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020592 MONDO:0024623 False disorder of pharynx otorhinolaryngologic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020594 MONDO:0003569 False abducens nerve disorder cranial nerve neuropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020594 MONDO:0003620 False abducens nerve disorder peripheral nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020596 MONDO:0024338 False mucin-producing carcinoma mucinous neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020597 MONDO:0003951 False angiokeratoma of scrotum scrotal hemangioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020597 MONDO:0003954 False angiokeratoma of scrotum angiokeratoma of Fordyce UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020598 MONDO:0005020 False malabsorption syndrome intestinal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020599 MONDO:0002242 False acquired coagulation factor deficiency coagulation protein disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020600 MONDO:0002258 False acute pharyngitis pharyngitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020600 MONDO:0020683 False acute pharyngitis acute disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020601 MONDO:0006009 False mosquito-borne viral encephalitis viral encephalitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020601 MONDO:0100120 False mosquito-borne viral encephalitis vector-borne disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020602 MONDO:0003847 False Simpson-Golabi-Behmel syndrome type 1 hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0020602 MONDO:0010731 False Simpson-Golabi-Behmel syndrome type 1 Simpson-Golabi-Behmel syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020603 MONDO:0010556 False X-linked chondrodysplasia punctata 2 X-linked chondrodysplasia punctata UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0020603 MONDO:0100118 False X-linked chondrodysplasia punctata 2 hereditary skin disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020604 MONDO:0000425 False X-linked dominant disease X-linked disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0020605 MONDO:0000425 False X-linked recessive disease X-linked disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0020606 MONDO:0003847 False sex-linked disease hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020627 MONDO:0015650 False epileptic encephalopathy, infantile or early childhood epilepsy syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020627 MONDO:0015653 False epileptic encephalopathy, infantile or early childhood monogenic epilepsy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -29644,32 +29265,27 @@ MONDO:0020639 MONDO:0700064 False monosomy aneuploidy UNSUPPORTED-MISSING UNSUPP MONDO:0020640 MONDO:0000568 False autoimmune encephalitis autoimmune disorder of central nervous system UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020642 MONDO:0019741 False polycystic kidney disease familial cystic renal disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020645 MONDO:0000426 False autosomal dominant osteopetrosis autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020645 MONDO:0017198 False autosomal dominant osteopetrosis osteopetrosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020646 MONDO:0000462 False ocular adnexal lymphoma eye adnexa disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020646 MONDO:0005586 False ocular adnexal lymphoma head and neck neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020647 MONDO:0003847 False microcephaly, facial dysmorphism, renal agenesis, and ambiguous genitalia syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020648 MONDO:0020068 False rubella encephalitis postinfectious encephalitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020648 MONDO:0021674 False rubella encephalitis post-viral disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020649 MONDO:0004433 False warty carcinoma of the penis papillary carcinoma of the penis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020655 MONDO:0005306 False juvenile ankylosing spondylitis ankylosing spondylitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0020657 MONDO:0017341 False human papillomavirus-related squamous cell carcinoma virus associated tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020658 MONDO:0004010 False infiltrating ureter transitional cell carcinoma infiltrating renal pelvis/ureter urothelial carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020658 MONDO:0004030 False infiltrating ureter transitional cell carcinoma ureter transitional cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0020659 MONDO:0020654 False upper tract urothelial carcinoma renal pelvis/ureter urothelial carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020663 MONDO:0004992 False malignant spindle cell neoplasm cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020666 MONDO:0019338 False Löfgren syndrome sarcoidosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020667 MONDO:0008803 False Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis Antley-Bixler syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0020669 MONDO:0000376 False paranasal sinus cancer respiratory system cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020669 MONDO:0000649 False paranasal sinus cancer sensory system cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020669 MONDO:0002132 False paranasal sinus cancer skull cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020673 MONDO:0000473 False arterial occlusion arterial disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020673 MONDO:0020672 False arterial occlusion vascular occlusion disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020674 MONDO:0005385 False vascular insufficiency disorder vascular disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020675 MONDO:0005020 False ischemic bowel disorder intestinal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020675 MONDO:0005053 False ischemic bowel disorder ischemic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020677 MONDO:0005365 False sudden hearing loss disorder hearing loss disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020677 MONDO:0020683 False sudden hearing loss disorder acute disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020678 MONDO:0005365 False sensorineural hearing loss disorder hearing loss disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020679 MONDO:0005365 False conductive hearing loss disorder hearing loss disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020680 MONDO:0002465 False acute bronchiolitis bronchiolitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020680 MONDO:0020683 False acute bronchiolitis acute disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020681 MONDO:0011142 False Ehlers-Danlos syndrome, musculocontractural type 1 Ehlers-Danlos syndrome, musculocontractural type UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020682 MONDO:0007526 False Ehlers-Danlos syndrome, spondylodysplastic type, 1 Ehlers-Danlos syndrome, spondylodysplastic type UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS @@ -29677,50 +29293,48 @@ MONDO:0020682 MONDO:0800064 False Ehlers-Danlos syndrome, spondylodysplastic typ MONDO:0020683 MONDO:0700096 False acute disease human disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020684 MONDO:0007527 False Ehlers-Danlos syndrome, periodontal type 1 Ehlers-Danlos syndrome, periodontitis type UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020685 MONDO:0004245 False infratentorial ependymal tumor ependymal tumor of brain UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020686 MONDO:0001039 False acute tonsillitis tonsillitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020686 MONDO:0020683 False acute tonsillitis acute disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020687 MONDO:0004245 False supratentorial ependymal tumor ependymal tumor of brain UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020688 MONDO:0005098 False spinal cord ischemia stroke disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020689 MONDO:0001627 False AIDS dementia complex dementia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020689 MONDO:0021674 False AIDS dementia complex post-viral disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020692 MONDO:0010180 False spondylocostal dysostosis 1, autosomal recessive autosomal recessive spondylocostal dysostosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020693 MONDO:0002412 False glycogen storage disease due to liver phosphorylase kinase deficiency disorder of glycogen metabolism UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020693 MONDO:0005154 False glycogen storage disease due to liver phosphorylase kinase deficiency liver disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020695 MONDO:0006497 False hypotonic cerebral palsy cerebral palsy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020696 MONDO:0005066 False vitamin B12 deficiency metabolic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020696 MONDO:0042976 False vitamin B12 deficiency vitamin B deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020703 MONDO:0020076 False erythroid neoplasm myeloproliferative neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020705 MONDO:0020573 False neural tube defects, susceptibility to inherited disease susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020706 MONDO:0002181 False Heberden's node exostosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020707 MONDO:0005365 False central hearing loss hearing loss disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020708 MONDO:0005559 False brachial amyotrophic diplegia neurodegenerative disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020710 MONDO:0021166 False amnionitis inflammatory disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020710 MONDO:0045013 False amnionitis disorder of extraembryonic membrane UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020714 MONDO:0009637 False mitochondrial myopathy, episodic, with optic atrophy and reversible leukoencephalopathy inborn mitochondrial myopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020715 MONDO:0020573 False multiple system atrophy 1, susceptibility to inherited disease susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020716 MONDO:0010132 False familial thyroid dyshormonogenesis 1 familial thyroid dyshormonogenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0020716 MONDO:0045046 False familial thyroid dyshormonogenesis 1 inherited thyroid metabolism disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020717 MONDO:0003847 False autosomal dominant wooly hair hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0020717 MONDO:0008686 False autosomal dominant wooly hair isolated familial wooly hair disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0020718 MONDO:0003847 False congenital short bowel syndrome, autosomal recessive hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020718 MONDO:0014097 False congenital short bowel syndrome, autosomal recessive congenital short bowel syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020720 MONDO:0000044 False X-linked hypophosphatemic rickets hereditary hypophosphatemic rickets UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020720 MONDO:0000425 False X-linked hypophosphatemic rickets X-linked disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020721 MONDO:0000425 False X-linked sideroblastic anemia 1 X-linked disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0020721 MONDO:0017754 False X-linked sideroblastic anemia 1 inborn disorder of porphyrin metabolism UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020722 MONDO:0020573 False nephrolithiasis susceptibility caused by SLC26A1 inherited disease susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020723 MONDO:0009924 False vitamin D-dependent rickets, type 1A vitamin D-dependent rickets, type 1 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020723 MONDO:0800096 False vitamin D-dependent rickets, type 1A abnormal mineralization disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020725 MONDO:0002280 False anemia due to chronic disorder anemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020726 MONDO:0008264 False tubulointerstitial kidney disease, autosomal dominant, 2 autosomal dominant medullary cystic kidney disease with or without hyperuricemia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020727 MONDO:0014471 False combined oxidative phosphorylation deficiency 22 mitochondrial proton-transporting ATP synthase complex deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS MONDO:0020728 MONDO:0009071 False hypouricemia, renal 1 hereditary renal hypouricemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020729 MONDO:0011096 False autosomal recessive agammaglobulinemia 1 autosomal agammaglobulinemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020731 MONDO:0005108 False arbovirus infection viral infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020731 MONDO:0100120 False arbovirus infection vector-borne disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020732 MONDO:0003847 False progeria hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020732 MONDO:0015333 False progeria progeroid syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020733 MONDO:0100521 False proximal symphalangism 1A NOG-related symphalangism spectrum disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020735 MONDO:0003847 False ACTH-independent macronodular adrenal hyperplasia 1 hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0020735 MONDO:0009049 False ACTH-independent macronodular adrenal hyperplasia 1 Cushing syndrome due to macronodular adrenal hyperplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0020736 MONDO:0003847 False uncombable hair syndrome 1 hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020736 MONDO:0008621 False uncombable hair syndrome 1 uncombable hair syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020738 MONDO:0007990 False multiple benign circumferential skin creases on limbs 1 multiple benign circumferential skin creases on limbs UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0020738 MONDO:0100118 False multiple benign circumferential skin creases on limbs 1 hereditary skin disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020740 MONDO:0100162 False ectodermal dysplasia and immunodeficiency 1 IKBKG-related immunodeficiency with or without ectodermal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020741 MONDO:0009945 False pyridoxine-dependent epilepsy caused by ALDH7A1 mutant pyridoxine-dependent epilepsy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020744 MONDO:0000467 False Mobitz type I atrioventricular block second-degree atrioventricular block UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020745 MONDO:0000426 False ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020745 MONDO:0007263 False ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome cardiac rhythm disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020746 MONDO:0009926 False contractures, pterygia, and variable skeletal fusions syndrome 1B autosomal recessive multiple pterygium syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING @@ -29730,7 +29344,6 @@ MONDO:0020756 MONDO:0100254 False migraine, familial hemiplegic, 1 CACNA1A-relat MONDO:0020757 MONDO:0018925 False sporadic hemiplegic migraine familial or sporadic hemiplegic migraine UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020759 MONDO:0020573 False epilepsy, childhood absence, susceptibility to, 1 inherited disease susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020764 MONDO:0700101 False Brown-Pearce carcinoma carcinoma, non-human animal UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020767 MONDO:0005693 False cauda equina syndrome with neurogenic bladder cauda equina syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020768 MONDO:0000425 False X-linked deafness X-linked disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020768 MONDO:0005365 False X-linked deafness hearing loss disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020768 MONDO:0037940 False X-linked deafness inherited auditory system disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -29743,12 +29356,9 @@ MONDO:0020776 MONDO:0021678 False chlamydiaceae infections gram-negative bacteri MONDO:0020779 MONDO:0005172 False cartilage development disorder skeletal system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020779 MONDO:0021147 False cartilage development disorder disorder of development or morphogenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020781 MONDO:0006025 False encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 1 autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020782 MONDO:0002508 False chronic gingivitis gingivitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020785 MONDO:0700080 False capillary malformation-arteriovenous malformation 2 EPHB4-associated vascular malformation spectrum UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020792 MONDO:0003847 False dwarfism with tall vertebrae hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020797 MONDO:0002570 False decompression sickness high pressure neurological syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020800 MONDO:0002562 False demyelinating disease of central nervous system demyelinating disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020805 MONDO:0020799 False benign basal cell neoplasm basal cell neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020805 MONDO:0036976 False benign basal cell neoplasm benign epithelial neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020806 MONDO:0000992 False sinoatrial block heart conduction disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020809 MONDO:0024988 False benign sertoli cell tumor sex cord-stromal benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -29759,17 +29369,18 @@ MONDO:0020815 MONDO:0006328 False dentigerous cyst odontogenic cyst UNSUPPORTED- MONDO:0020816 MONDO:0006580 False miliaria papulosa miliaria UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020817 MONDO:0006580 False miliaria vesiculosa miliaria UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020818 MONDO:0003394 False secondary dentine dental pulp disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020820 MONDO:0000426 False distal arthrogryposis type 2B1 autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0020820 MONDO:0011128 False distal arthrogryposis type 2B1 Sheldon-hall syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0020823 MONDO:0006580 False infantile miliaria miliaria UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020830 MONDO:0005728 False diaphragmitis diaphragm disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020830 MONDO:0021166 False diaphragmitis inflammatory disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020831 MONDO:0005267 False congenital vertebral-cardiac-renal anomalies syndrome heart disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020831 MONDO:0006025 False congenital vertebral-cardiac-renal anomalies syndrome autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020831 MONDO:0015161 False congenital vertebral-cardiac-renal anomalies syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020835 MONDO:0018963 False methemoglobinemia, alpha type hereditary methemoglobinemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020836 MONDO:0020573 False autism, susceptiblity to inherited disease susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020838 MONDO:0005504 False anterior nasal diphtheria diphtheria UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020840 MONDO:0003847 False pulmonary alveolar proteinosis with hypogammaglobulinemia hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020841 MONDO:0100500 False neurodevelopmental disorder with cerebellar atrophy and with or without seizures Mendelian neurodevelopmental disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020843 MONDO:0001217 False pseudomembranous diphtheritic conjunctivitis pseudomembranous conjunctivitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020843 MONDO:0005504 False pseudomembranous diphtheritic conjunctivitis diphtheria UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020847 MONDO:0015802 False intellectual disability, autosomal dominant 58 autosomal dominant non-syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020853 MONDO:0100198 False encephalitis/encephalopathy, mild, with reversible myelin vacuolization Mendelian encephalopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -29781,7 +29392,6 @@ MONDO:0020863 MONDO:0024355 False laryngeal diphtheria respiratory tract infecti MONDO:0020866 MONDO:0004821 False nasopharyngeal diphtheria nasopharyngeal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020866 MONDO:0005504 False nasopharyngeal diphtheria diphtheria UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020866 MONDO:0024355 False nasopharyngeal diphtheria respiratory tract infectious disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020920 MONDO:0005113 False escherichia coli infection bacterial infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020927 MONDO:0011348 False postaxial polydactyly non-syndromic polydactyly UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020937 MONDO:0003847 False contractures, pterygia, and variable skeletal fusions syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020937 MONDO:0017415 False contractures, pterygia, and variable skeletal fusions syndrome multiple pterygium syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -29794,11 +29404,7 @@ MONDO:0020950 MONDO:0043885 False viral eye infection eye infectious disorder UN MONDO:0020959 MONDO:0005838 False Mansonella ozzardi infection mansonelliasis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020959 MONDO:0005943 False Mansonella ozzardi infection Rhabditida infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020971 MONDO:0004277 False gonococcal urethritis gonorrhea UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020971 MONDO:0005297 False gonococcal urethritis urethritis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020974 MONDO:0004382 False laryngeal granuloma laryngeal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020977 MONDO:0005280 False granulomatous prostatitis prostatitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020979 MONDO:0021539 False pilosebaceous hamartoma hamartoma of skin appendage UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020980 MONDO:0020979 False hair nevus pilosebaceous hamartoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020983 MONDO:0005267 False myocardial rupture heart disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020989 MONDO:0019050 False hereditary persistence of fetal hemoglobin inherited hemoglobinopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021002 MONDO:0003847 False syndactyly hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS @@ -29810,42 +29416,43 @@ MONDO:0021003 MONDO:0021147 False polydactyly disorder of development or morphog MONDO:0021004 MONDO:0003847 False brachydactyly hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0021004 MONDO:0005172 False brachydactyly skeletal system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021004 MONDO:0021147 False brachydactyly disorder of development or morphogenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021005 MONDO:0002254 False faciodigitogenital syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0021008 MONDO:8000010 False secondary antiphospholipid syndrome antiphospholipid syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021009 MONDO:0044964 False salivary gland mucoepidermoid carcinoma oral cavity mucoepidermoid carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021010 MONDO:0002656 False skin lymphangiosarcoma skin carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021011 MONDO:0001595 False hereditary progressive chorea without dementia choreatic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021011 MONDO:0003847 False hereditary progressive chorea without dementia hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021012 MONDO:0015979 False susceptibility to visceral leishmaniasis, 1 hereditary predisposition to infections UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021019 MONDO:0017304 False X-linked recessive ocular albinism ocular albinism UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021019 MONDO:0020605 False X-linked recessive ocular albinism X-linked recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021019 MONDO:0043209 False X-linked recessive ocular albinism albinism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021019 MONDO:0700230 False X-linked recessive ocular albinism GPR143-related foveal hypoplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021020 MONDO:0009044 False Crigler-Najjar syndrome type 1 Crigler-Najjar syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021021 MONDO:0015465 False craniodiaphyseal dysplasia, autosomal dominant craniometaphyseal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS +MONDO:0021022 MONDO:0017658 False hereditary hyperekplexia hyperekplexia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021022 MONDO:0019253 False hereditary hyperekplexia metabolic disease involving other neurotransmitter deficiency UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021024 MONDO:0015979 False malaria, susceptibility to hereditary predisposition to infections UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021025 MONDO:0007329 False cirrhosis, familial, with antigenemia cirrhosis, familial UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0021026 MONDO:0005093 False hereditary epidermal appendage anomaly skin disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021029 MONDO:0021026 False hereditary sebaceous gland anomaly hereditary epidermal appendage anomaly UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021032 MONDO:0003382 False herpes zoster with dermatitis of eyelid eyelid disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021032 MONDO:0020950 False herpes zoster with dermatitis of eyelid viral eye infection UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021032 MONDO:0021033 False herpes zoster with dermatitis of eyelid herpes zoster dermatitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021033 MONDO:0005608 False herpes zoster dermatitis varicella zoster infection UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021033 MONDO:0021201 False herpes zoster dermatitis skin infection UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021036 MONDO:0005093 False keratosis pilaris skin disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021052 MONDO:0044995 False parasympathetic paraganglioma parasympathetic nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021053 MONDO:0000473 False carotid body paraganglioma arterial disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021053 MONDO:0021080 False carotid body paraganglioma blood vessel neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021053 MONDO:0043218 False carotid body paraganglioma neurovascular disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021055 MONDO:0021057 False classic familial adenomatous polyposis classic or attenuated familial adenomatous polyposis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021056 MONDO:0016362 False familial adenomatous polyposis 1 attenuated familial adenomatous polyposis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021058 MONDO:0002254 False neoplastic syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021058 MONDO:0023370 False neoplastic syndrome neoplastic disease or syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021060 MONDO:0003847 False RASopathy hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0021061 MONDO:0015356 False neurofibromatosis hereditary neoplastic syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021061 MONDO:0042983 False neurofibromatosis neurocutaneous syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021058 MONDO:0700245 False neoplastic syndrome syndromic disorder of cell proliferation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021061 MONDO:0000426 False neurofibromatosis autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0021064 MONDO:0002785 False jugulotympanic paraganglioma skull base neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021064 MONDO:0023603 False jugulotympanic paraganglioma hereditary disorder of connective tissue UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021065 MONDO:0020641 False pleural neoplasm respiratory tract neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021071 MONDO:0020641 False laryngeal neoplasm respiratory tract neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021072 MONDO:0044993 False sympathetic paraganglioma sympathetic nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021073 MONDO:0002254 False paraneoplastic syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021074 MONDO:0045024 False precancerous condition cancer or benign tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021073 MONDO:0700245 False paraneoplastic syndrome syndromic disorder of cell proliferation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021074 MONDO:0045024 False precancerous condition cell proliferation disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021075 MONDO:0021074 False neoplastic polyp precancerous condition UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021081 MONDO:0100029 False anti-NMDA receptor encephalitis antibody mediated epilepsy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021082 MONDO:0006801 False Meckel diverticulum neoplasm ileal neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -29856,7 +29463,6 @@ MONDO:0021086 MONDO:0021192 False gingival neoplasm odontogenic neoplasm UNSUPPO MONDO:0021090 MONDO:0003982 False lipid-rich breast carcinoma bilateral breast carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0021091 MONDO:0002533 False papillary cystadenoma papillary adenoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021094 MONDO:0003847 False immunodeficiency disease hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021094 MONDO:0005046 False immunodeficiency disease immune system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021095 MONDO:0003996 False parkinsonian disorder basal ganglia disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0021097 MONDO:0000652 False intraductal breast papilloma integumentary system benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0021100 MONDO:0021350 False breast neoplasm neoplasm of thorax UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -29864,8 +29470,9 @@ MONDO:0021101 MONDO:0004210 False appendix L-cell glucagon-like peptide-producin MONDO:0021102 MONDO:0021066 False prostate phyllodes tumor urinary system neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021104 MONDO:0004790 False alcoholic fatty liver disease fatty liver disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021104 MONDO:0043693 False alcoholic fatty liver disease alcoholic liver diseases UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021105 MONDO:0013209 False NAFLD1 non-alcoholic fatty liver disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021105 MONDO:0013209 False NAFLD1 metabolic dysfunction-associated steatotic liver disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021106 MONDO:0003847 False laminopathy hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021107 MONDO:0003406 False narcolepsy sleep-wake disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0021107 MONDO:0003847 False narcolepsy hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0021108 MONDO:0005156 False meningitis encephalomyelitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021112 MONDO:0005836 False scrotum cancer male reproductive organ cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -29877,11 +29484,7 @@ MONDO:0021124 MONDO:0005047 False female infertility infertility disorder UNSUPP MONDO:0021131 MONDO:0001421 False frontal lobe ependymal tumor frontal lobe neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021131 MONDO:0002731 False frontal lobe ependymal tumor cerebral hemisphere cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021131 MONDO:0004245 False frontal lobe ependymal tumor ependymal tumor of brain UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021132 MONDO:0001741 False tertiary hyperparathyroidism hyperparathyroidism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021133 MONDO:0002241 False acquired factor XIII deficiency factor XIII deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021133 MONDO:0020599 False acquired factor XIII deficiency acquired coagulation factor deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021134 MONDO:0002247 False acquired factor X deficiency factor X deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021134 MONDO:0020599 False acquired factor X deficiency acquired coagulation factor deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021138 MONDO:0000621 False bone marrow cancer immune system cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021138 MONDO:0002129 False bone marrow cancer bone cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021141 MONDO:0021139 False acquired congenital or acquired UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -29903,14 +29506,17 @@ MONDO:0021160 MONDO:0005247 False gonococcal cystitis bacterial urinary tract in MONDO:0021160 MONDO:0006032 False gonococcal cystitis cystitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021161 MONDO:0004277 False gonococcal prostatitis gonorrhea UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021161 MONDO:0005280 False gonococcal prostatitis prostatitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021162 MONDO:0006504 False carotenemia acquired metabolic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0021164 MONDO:0002036 False posthitis penile disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021164 MONDO:0021166 False posthitis inflammatory disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021166 MONDO:0700096 False inflammatory disease human disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021167 MONDO:0005336 False myositis disease myopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0021167 MONDO:0021166 False myositis disease inflammatory disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021171 MONDO:0010979 False Timothy syndrome, classic type Timothy syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021172 MONDO:0010979 False Timothy syndrome, atypical type Timothy syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021175 MONDO:0005608 False herpetic vulvovaginitis varicella zoster infection UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021175 MONDO:0007019 False herpetic vulvovaginitis vulvovaginitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021175 MONDO:0023557 False herpetic vulvovaginitis infective vaginitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021176 MONDO:0016264 False autoimmune hepatitis type 2 autoimmune hepatitis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021177 MONDO:0016264 False autoimmune hepatitis type 3 autoimmune hepatitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021179 MONDO:0005066 False proteostasis deficiencies metabolic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021181 MONDO:0001531 False inherited blood coagulation disorder blood coagulation disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -29925,7 +29531,6 @@ MONDO:0021202 MONDO:0005271 False allergic otitis media allergic disease UNSUPPO MONDO:0021202 MONDO:0005441 False allergic otitis media otitis media UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021203 MONDO:0001212 False serous otitis media non-suppurative otitis media UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021204 MONDO:0005441 False chronic otitis media otitis media UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021205 MONDO:0024623 False disorder of ear otorhinolaryngologic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021206 MONDO:0001212 False chronic non-suppurative otitis media non-suppurative otitis media UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021206 MONDO:0021204 False chronic non-suppurative otitis media chronic otitis media UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021207 MONDO:0005539 False Crohn jejunitis small bowel Crohn disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -29986,7 +29591,6 @@ MONDO:0021364 MONDO:0004335 False neoplasm of oropharynx digestive system disord MONDO:0021367 MONDO:0011996 False leukemia, myeloid, accelerated-phase chronic myelogenous leukemia, BCR-ABL1 positive UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021370 MONDO:0044992 False neoplasm of minor salivary gland mouth mucosa disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021375 MONDO:0002866 False tumor of duodenum duodenal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021377 MONDO:0006572 False hypertrophic lichen planus lichen planus UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021378 MONDO:0000470 False neoplasm of endocardium endocardium disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021379 MONDO:0021381 False neoplasm of epicardium neoplasm of pericardium UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021380 MONDO:0024643 False neoplasm of myocardium myocardial disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -29996,33 +29600,18 @@ MONDO:0021389 MONDO:0005561 False neoplasm of aortic body aortic disorder UNSUPP MONDO:0021389 MONDO:0021080 False neoplasm of aortic body blood vessel neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021389 MONDO:0021350 False neoplasm of aortic body neoplasm of thorax UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021389 MONDO:0043218 False neoplasm of aortic body neurovascular disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021392 MONDO:0005079 False polyp of large intestine polyp UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021392 MONDO:0024634 False polyp of large intestine large intestine disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021394 MONDO:0001433 False polyp of vagina vaginal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021396 MONDO:0002263 False polyp of vulva female reproductive system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021398 MONDO:0001593 False polyp of rectum rectal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021398 MONDO:0021392 False polyp of rectum polyp of large intestine UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021400 MONDO:0003409 False polyp of colon colonic disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021400 MONDO:0021392 False polyp of colon polyp of large intestine UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021404 MONDO:0001735 False polyp of sphenoidal sinus paranasal sinus disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021404 MONDO:0005079 False polyp of sphenoidal sinus polyp UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021404 MONDO:0023369 False polyp of sphenoidal sinus disorder of facial skeleton UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021408 MONDO:0001735 False polyp of frontal sinus paranasal sinus disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021408 MONDO:0005079 False polyp of frontal sinus polyp UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021412 MONDO:0001735 False polyp of maxillary sinus paranasal sinus disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021412 MONDO:0005079 False polyp of maxillary sinus polyp UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021412 MONDO:0006858 False polyp of maxillary sinus mouth disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021412 MONDO:0023369 False polyp of maxillary sinus disorder of facial skeleton UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021416 MONDO:0005079 False polyp of gallbladder polyp UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021416 MONDO:0005281 False polyp of gallbladder gallbladder disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021418 MONDO:0001735 False polyp of ethmoidal sinus paranasal sinus disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021418 MONDO:0005079 False polyp of ethmoidal sinus polyp UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021420 MONDO:0004382 False polyp of vocal cord laryngeal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021420 MONDO:0005079 False polyp of vocal cord polyp UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021424 MONDO:0002531 False hemangiopericytoma of skin skin neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021427 MONDO:0004958 False squamous cell carcinoma of lip oral cavity squamous cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021439 MONDO:0000627 False benign neoplasm of pituitary gland benign endocrine neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0021439 MONDO:0000631 False benign neoplasm of pituitary gland bone benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0021440 MONDO:0000652 False benign neoplasm of skin integumentary system benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021443 MONDO:0000630 False benign neoplasm of lymph node immune system organ benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0021444 MONDO:0024634 False benign neoplasm of large intestine large intestine disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021446 MONDO:0021461 False benign neoplasm of epiglottis benign neoplasm of hypopharynx UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021450 MONDO:0000629 False benign neoplasm of heart cardiovascular organ benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -30032,6 +29621,7 @@ MONDO:0021456 MONDO:0000636 False benign neoplasm of sternum musculoskeletal sys MONDO:0021457 MONDO:0000382 False benign neoplasm of pleura respiratory system benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021459 MONDO:0000634 False benign neoplasm of esophagus thoracic benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021461 MONDO:0000382 False benign neoplasm of hypopharynx respiratory system benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021463 MONDO:0000627 False benign neoplasm of parathyroid gland benign endocrine neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0021465 MONDO:0021464 False benign neoplasm of appendix benign neoplasm of cecum UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021469 MONDO:0021462 False benign neoplasm of anus benign neoplasm of rectum UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021472 MONDO:0000625 False benign neoplasm of scrotum benign male reproductive system neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -30075,15 +29665,14 @@ MONDO:0021522 MONDO:0021580 False benign neoplasm of lower jaw bone neoplasm of MONDO:0021527 MONDO:0000628 False benign neoplasm of meninges central nervous system organ benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021537 MONDO:0005617 False undifferentiated carcinoma of nasopharynx undifferentiated carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021539 MONDO:0002297 False hamartoma of skin appendage epidermal appendage tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021539 MONDO:0006499 False hamartoma of skin appendage hamartoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021540 MONDO:0006499 False hamartoma of lung hamartoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021541 MONDO:0006500 False hemangioma of retina hemangioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021541 MONDO:0021453 False hemangioma of retina benign neoplasm of retina UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021541 MONDO:0043218 False hemangioma of retina neurovascular disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021545 MONDO:0003939 False myomatous neoplasm muscle tissue disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021546 MONDO:0002542 False ependymal tumor of spinal cord spinal cord glioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021546 MONDO:0003266 False ependymal tumor of spinal cord ependymal tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021559 MONDO:0003664 False non-autoimmune hemolytic anemia hemolytic anemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021548 MONDO:0011060 False total early-onset cataract early-onset non-syndromic cataract UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021553 MONDO:0002565 False transverse myelitis myelitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0021562 MONDO:0021166 False omphalitis inflammatory disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021568 MONDO:0005240 False renal tubule disorder kidney disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021569 MONDO:0015151 False Emery-Dreifuss muscular dystrophy 2, autosomal dominant muscular dystrophy, limb-girdle, autosomal dominant UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS @@ -30117,14 +29706,9 @@ MONDO:0021651 MONDO:0018230 False synpolydactyly skeletal dysplasia UNSUPPORTED- MONDO:0021653 MONDO:0002523 False cutaneous focal mucinosis cutaneous mucinosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021654 MONDO:0002523 False diffuse cutaneous mucinosis cutaneous mucinosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021655 MONDO:0002523 False secondary catabolic mucinosis of skin cutaneous mucinosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021658 MONDO:0005385 False vascular ectasia vascular disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021660 MONDO:0005982 False deep seated dermatophytosis tinea infection UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021661 MONDO:0005010 False coronary atherosclerosis coronary artery disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021661 MONDO:0005311 False coronary atherosclerosis atherosclerosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021662 MONDO:0005304 False bile duct neoplasm biliary tract neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021666 MONDO:0005550 False ear infection infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021666 MONDO:0021166 False ear infection inflammatory disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021666 MONDO:0021205 False ear infection disorder of ear UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021667 MONDO:0005244 False neuralgia peripheral neuropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021667 MONDO:0700057 False neuralgia neurological pain disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021669 MONDO:0700096 False post-infectious disorder human disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -30143,14 +29727,11 @@ MONDO:0021698 MONDO:0002494 False alcohol-related disorders substance-related di MONDO:0021699 MONDO:0021698 False alcohol-induced disorders alcohol-related disorders UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021702 MONDO:0001152 False alcohol amnestic disorder amnestic disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021702 MONDO:0021698 False alcohol amnestic disorder alcohol-related disorders UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021718 MONDO:0001824 False polyneuritis polyneuropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021718 MONDO:0002122 False polyneuritis neuritis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021722 MONDO:0002263 False vulvodynia female reproductive system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021722 MONDO:0700057 False vulvodynia neurological pain disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021723 MONDO:0001433 False vaginismus vaginal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021726 MONDO:0009761 False abdominal cystic lymphangioma cystic hygroma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021727 MONDO:0000473 False aberrant subclavian artery arterial disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021736 MONDO:0024278 False proctosigmoiditis proctocolitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021739 MONDO:0006547 False prurigo exanthem UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021742 MONDO:0005550 False puerperal infection infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021742 MONDO:0044013 False puerperal infection puerperal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -30159,15 +29740,11 @@ MONDO:0021745 MONDO:0006909 False psychosocial short stature pituitary dwarfism MONDO:0021746 MONDO:0006032 False pyelocystitis cystitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021746 MONDO:0006938 False pyelocystitis pyelitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021747 MONDO:0005550 False Acanthamoeba infectious disease infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021750 MONDO:0005240 False pyonephrosis kidney disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021752 MONDO:0002254 False Achard-Thiers syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021758 MONDO:0001609 False acquired agranulocytosis agranulocytosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021759 MONDO:0017689 False acquired fructose intolerance disorder of fructose metabolism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021765 MONDO:0005071 False radiculitis nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021765 MONDO:0021166 False radiculitis inflammatory disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021777 MONDO:0006955 False acute rheumatic heart disease rheumatic heart disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021777 MONDO:0020683 False acute rheumatic heart disease acute disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021783 MONDO:0002258 False streptococcal sore throat pharyngitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021783 MONDO:0021680 False streptococcal sore throat streptococcal infection UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021783 MONDO:0024355 False streptococcal sore throat respiratory tract infectious disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021804 MONDO:0005960 False silicotuberculosis silicosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -30192,14 +29769,11 @@ MONDO:0021845 MONDO:0008797 False Aloi Tomasini Isaia syndrome anodontia UNSUPPO MONDO:0021851 MONDO:0004907 False alopecia universalis onychodystrophy vitiligo alopecia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021851 MONDO:0008661 False alopecia universalis onychodystrophy vitiligo vitiligo UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021856 MONDO:0100191 False Alsing syndrome inherited kidney disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021895 MONDO:0002254 False temporomandibular joint dysfunction syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021895 MONDO:0005473 False temporomandibular joint dysfunction syndrome temporomandibular joint disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021895 MONDO:0006862 False temporomandibular joint dysfunction syndrome myofascial pain syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021896 MONDO:0000473 False anterior spinal artery stroke arterial disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021896 MONDO:0020688 False anterior spinal artery stroke spinal cord ischemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021902 MONDO:0005267 False aortopulmonary window heart disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021913 MONDO:0005093 False aquagenic pruritus skin disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021915 MONDO:0002254 False arakawa syndrome 2 syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021915 MONDO:0004736 False arakawa syndrome 2 inborn disorder of amino acid metabolism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021918 MONDO:0002254 False arena syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021921 MONDO:0000942 False Arnold stickler bourne syndrome corneal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -30228,10 +29802,8 @@ MONDO:0021950 MONDO:0006877 False autoimmune oophoritis oophoritis UNSUPPORTED-M MONDO:0021952 MONDO:0002406 False autoimmune progesterone dermatitis dermatitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021952 MONDO:0007179 False autoimmune progesterone dermatitis autoimmune disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021953 MONDO:0002771 False tuberculous fibrosis of lung pulmonary fibrosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021953 MONDO:0006052 False tuberculous fibrosis of lung pulmonary tuberculosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021953 MONDO:0024355 False tuberculous fibrosis of lung respiratory tract infectious disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021957 MONDO:0020376 False autosomal recessive nonsyndromic congenital nuclear cataract early-onset nuclear cataract UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021960 MONDO:0001926 False ureteritis ureteral disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021960 MONDO:0021166 False ureteritis inflammatory disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021962 MONDO:0002254 False baetz-greenwalt syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021964 MONDO:0002254 False bagatelle Cassidy syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -30240,7 +29812,6 @@ MONDO:0021964 MONDO:0016608 False bagatelle Cassidy syndrome megalencephaly UNSU MONDO:0021966 MONDO:0001150 False baker Vinters syndrome hydrocephalus UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021966 MONDO:0002254 False baker Vinters syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021969 MONDO:0002254 False Banti syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021977 MONDO:0006499 False basaloid follicular hamartoma hamartoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021979 MONDO:0002884 False Basaran Yilmaz syndrome nail disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021979 MONDO:0003037 False Basaran Yilmaz syndrome hypotrichosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021994 MONDO:0021004 False Berk-Tabatznik syndrome brachydactyly UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -30265,20 +29836,18 @@ MONDO:0022089 MONDO:0002254 False Carnevale hernandez castillo syndrome syndromi MONDO:0022094 MONDO:0002254 False Cartwright Nelson Fryns syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0022096 MONDO:0002407 False pyogenic granuloma capillary hemangioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0022098 MONDO:0002076 False catamenial pneumothorax pneumothorax UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0022103 MONDO:0005280 False chronic prostatitis prostatitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0022113 MONDO:0003847 False central centrifugal cicatricial alopecia hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0022113 MONDO:0004907 False central centrifugal cicatricial alopecia alopecia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0022140 MONDO:0002254 False Charles bonnet syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0022151 MONDO:0005287 False Chitty Hall Webb syndrome developmental disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0022173 MONDO:0016932 False chromosome 11q trisomy partial duplication of chromosome 11 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0022174 MONDO:0017277 False chromosome 12p deletion partial deletion of chromosome 12 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0022177 MONDO:0700029 False chromosome 13q trisomy partial duplication of chromosome 13 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0022178 MONDO:0700020 False chromosome 13q-mosaicism chromosome 13 disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0022196 MONDO:0004966 False chronic erosive gastritis gastritis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0022205 MONDO:0005083 False pustular psoriasis psoriasis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0022208 MONDO:0006816 False crystal arthropathy arthropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0022220 MONDO:0002254 False Parinaud syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0022236 MONDO:0005560 False colpocephaly brain disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0022293 MONDO:0002036 False vascular disorder of penis penile disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0022293 MONDO:0005385 False vascular disorder of penis vascular disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0022308 MONDO:0002254 False corticobasal degeneration disorder syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0022308 MONDO:0024238 False corticobasal degeneration disorder cerebral degeneration UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0022311 MONDO:0007405 False cote katsantoni syndrome Crouzon syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -30295,6 +29864,7 @@ MONDO:0022357 MONDO:0002254 False congenital acardia syndromic disease UNSUPPORT MONDO:0022357 MONDO:0019512 False congenital acardia congenital heart malformation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0022394 MONDO:0006736 False cervical intraepithelial neoplasia dysplasia of cervix UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0022410 MONDO:0005283 False retinal ciliopathy retinal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0022410 MONDO:0005308 False retinal ciliopathy ciliopathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0022417 MONDO:0002254 False alopecia congenita keratosis palmoplantaris syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0022417 MONDO:0019272 False alopecia congenita keratosis palmoplantaris hereditary palmoplantar keratoderma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0022424 MONDO:0002254 False alpha-mannosidosis type 1 syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -30302,14 +29872,14 @@ MONDO:0022424 MONDO:0009561 False alpha-mannosidosis type 1 alpha-mannosidosis U MONDO:0022428 MONDO:0002254 False aluminosis syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0022430 MONDO:0024239 False persistent fetal circulation syndrome congenital anomaly of cardiovascular system UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0022432 MONDO:0019287 False alves Castelo dos Santos syndrome ectodermal dysplasia syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0022435 MONDO:0002254 False Mauriac syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0022453 MONDO:0006499 False angiomyomatous hamartoma hamartoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0022510 MONDO:0002254 False atlanto-axial fusion syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0022513 MONDO:0002254 False atrophoderma of Pierini and Pasini syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0022519 MONDO:0004496 False autoimmune myocarditis myocarditis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0022519 MONDO:0030701 False autoimmune myocarditis autoimmune cardiomyopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0022529 MONDO:0005784 False BK-virus nephropathy hantavirus hemorrhagic fever with renal syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0022535 MONDO:0005269 False autonomic facial cephalgia carotid artery disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0022538 MONDO:0002021 False leukoplakia of gingiva gingival disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0022538 MONDO:0004844 False leukoplakia of gingiva oral mucosa leukoplakia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0022552 MONDO:0007405 False Bazopoulou Kyrkanidou syndrome Crouzon syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0022555 MONDO:0002254 False Beardwell syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0022557 MONDO:0002427 False Behrens Baumann dust syndrome cerebellar disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -30323,6 +29893,7 @@ MONDO:0022612 MONDO:0002254 False Brunsting-Perry syndrome syndromic disease UNS MONDO:0022618 MONDO:0006687 False burning mouth syndrome type 3 burning mouth syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0022633 MONDO:0002254 False camptodactyly joint contractures and facial skeletal dysplasia syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0022634 MONDO:0002254 False camptodactyly vertebral fusion syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0022642 MONDO:0021079 False childhood carcinoid tumor childhood neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0022648 MONDO:0002254 False cardiomyopathy and deafness due to tRNA lysine gene mutation syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0022654 MONDO:0002254 False cardiomyopathy hypogonadism collagenoma syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0022673 MONDO:0022672 False autosomal dominant non-nuclear cataract autosomal dominant cataract UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -30332,18 +29903,19 @@ MONDO:0022712 MONDO:0002254 False oculo digital syndrome syndromic disease UNSUP MONDO:0022715 MONDO:0000115 False Chiari malformation type 3 Chiari malformation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0022716 MONDO:0000115 False Chiari malformation type 4 Chiari malformation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0022723 MONDO:0002254 False chondrodysplasia syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0022735 MONDO:0005262 False choroid plexus cyst central nervous system cyst UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0022736 MONDO:0005275 False occupational lung disease lung disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0022736 MONDO:0100366 False occupational lung disease occupational disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0022737 MONDO:0010557 False choroideremia hypopituitarism choroideremia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0022742 MONDO:0004979 False occupational asthma asthma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0022742 MONDO:0022736 False occupational asthma occupational lung disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0022745 MONDO:0015926 False mixed dust pneumoconiosis pneumoconiosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0022746 MONDO:0700029 False chromosome 13p duplication partial duplication of chromosome 13 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0022749 MONDO:0005093 False non-neoplastic nevus skin disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0022752 MONDO:0016894 False chromosome 16p13.3 deletion syndrome partial deletion of the short arm of chromosome 16 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0022752 MONDO:0019188 False chromosome 16p13.3 deletion syndrome Rubinstein-Taybi syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0022754 MONDO:0016879 False chromosome 17p deletion partial deletion of chromosome 17 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0022755 MONDO:0020639 False chromosome 18 mosaic monosomy monosomy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0022755 MONDO:0700125 False chromosome 18 mosaic monosomy chromosome 18 disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0022756 MONDO:0016866 False chromosome 1q deletion partial deletion of chromosome 1 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0022757 MONDO:0700025 False chromosome 20 trisomy chromosome 20 disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0022757 MONDO:0700065 False chromosome 20 trisomy trisomy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0022758 MONDO:0019891 False chromosome 22, monosome mosaic monosomy 22 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -30352,6 +29924,7 @@ MONDO:0022759 MONDO:0700065 False trisomy 22 trisomy UNSUPPORTED-MISSING UNSUPPO MONDO:0022760 MONDO:0000761 False chromosome 22q deletion syndrome caused by partial chromosomal deletion UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0022761 MONDO:0002254 False chromosome 3 duplication syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0022761 MONDO:0700010 False chromosome 3 duplication syndrome chromosome 3 disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0022762 MONDO:0016869 False chromosome 4 short arm deletion partial deletion of chromosome 4 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0022799 MONDO:0005492 False cold urticaria urticaria UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0022800 MONDO:0002254 False type 2 collagenopathy syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0022800 MONDO:0004603 False type 2 collagenopathy collagenopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -30363,7 +29936,6 @@ MONDO:0022815 MONDO:0002254 False congenital absence of the sternocleidomastoid MONDO:0022825 MONDO:0002254 False congenital cystic eye syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0022839 MONDO:0005109 False congenital human immunodeficiency virus HIV infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0022851 MONDO:0002254 False Dennis-Fairhurst-Moore syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0022859 MONDO:0005267 False cor biloculare heart disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0022901 MONDO:0001409 False Crohn disease of the esophagus esophagitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0022901 MONDO:0005011 False Crohn disease of the esophagus Crohn disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0022904 MONDO:0005576 False cryofibrinogenemia cryoglobulinemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -30385,7 +29957,6 @@ MONDO:0023007 MONDO:0002254 False Drachtman Weinblatt Sitarz syndrome syndromic MONDO:0023007 MONDO:0003225 False Drachtman Weinblatt Sitarz syndrome bone marrow disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0023011 MONDO:0005275 False Wilson-Mikity syndrome lung disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0023013 MONDO:0002254 False Duker-Weiss-Siber syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0023023 MONDO:0004926 False neonatal dacryocystitis dacryocystitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0023035 MONDO:0002254 False Eagle syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0023035 MONDO:0700057 False Eagle syndrome neurological pain disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0023039 MONDO:0024240 False eccrine mucinous carcinoma eccrine carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -30395,6 +29966,7 @@ MONDO:0023050 MONDO:0002254 False ectrodactyly cardiopathy dysmorphism syndromic MONDO:0023054 MONDO:0006496 False klumpke's paralysis palsy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0023059 MONDO:0002254 False Elliott ludman Teebi syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0023069 MONDO:0002254 False enlarged vestibular aqueduct syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0023069 MONDO:0002467 False enlarged vestibular aqueduct syndrome inner ear disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0023069 MONDO:0024654 False enlarged vestibular aqueduct syndrome skull disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0023073 MONDO:0006032 False eosinophilic cryptitis cystitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0023076 MONDO:0006552 False eosinophilic pustular folliculitis folliculitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -30403,8 +29975,6 @@ MONDO:0023089 MONDO:0005070 False erythroplakia neoplasm UNSUPPORTED-MISSING UNS MONDO:0023094 MONDO:0001910 False exogenous ochronosis ochronosis disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0023106 MONDO:0005516 False Fairbank disease osteochondrodysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0023111 MONDO:0002254 False familial capillaro-venous leptomeningeal angiomatosis syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0023113 MONDO:0003847 False familial colorectal cancer hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0023113 MONDO:0005575 False familial colorectal cancer colorectal cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0023119 MONDO:0009692 False familial myelofibrosis primary myelofibrosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0023121 MONDO:0003847 False familial partial paralysis hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0023122 MONDO:0003847 False familial prostate carcinoma hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -30418,9 +29988,7 @@ MONDO:0023153 MONDO:0000369 False tuberculous ascites abdominal tuberculosis UNS MONDO:0023154 MONDO:0002254 False fibromatosis multiple non ossifying syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0023158 MONDO:0000922 False Fitz-Hugh-Curtis syndrome pelvic inflammatory disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0023158 MONDO:0002254 False Fitz-Hugh-Curtis syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0023161 MONDO:0004496 False viral myocarditis myocarditis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0023161 MONDO:0100329 False viral myocarditis primary viral infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0023164 MONDO:0005904 False viral pericarditis pericarditis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0023164 MONDO:0100329 False viral pericarditis primary viral infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0023165 MONDO:0001283 False florid cystic endosalpingiosis of the uterus endosalpingiosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0023165 MONDO:0002654 False florid cystic endosalpingiosis of the uterus uterine disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -30430,17 +29998,16 @@ MONDO:0023176 MONDO:0029000 False formaldehyde poisoning poisoning UNSUPPORTED-M MONDO:0023182 MONDO:0007534 False Franceschini Vardeu Guala syndrome Beckwith-Wiedemann syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0023186 MONDO:0002254 False Fraser Jequier Chen syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0023188 MONDO:0002254 False Freiberg disease syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0023188 MONDO:0018381 False Freiberg disease osteochondrosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0023194 MONDO:0002254 False frints de Smet Fabry Fryns syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0023201 MONDO:0002254 False Fryns Smeets Thiry syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0023203 MONDO:0002254 False Fuchs atrophia gyrata chorioideae et retinae syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0023204 MONDO:0002254 False Fukuda-Miyanomae-Nakata syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0023204 MONDO:0020121 False Fukuda-Miyanomae-Nakata syndrome muscular dystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0023209 MONDO:0009256 False galactorrhoea-hyperprolactinaemia galactorrhea UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0023209 MONDO:0014250 False galactorrhoea-hyperprolactinaemia familial hyperprolactinemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0023212 MONDO:0002254 False Garret-Tripp syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0023214 MONDO:0002254 False gas bloat syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0023227 MONDO:0004782 False gestational diabetes insipidus diabetes insipidus UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0023230 MONDO:0002254 False Ghose-Sachdev-Kumar syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0023232 MONDO:0002815 False giant cell myocarditis acute myocarditis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0023238 MONDO:0006499 False giant mammary hamartoma hamartoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0023243 MONDO:0000426 False glass-chapman-hockley syndrome autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0023243 MONDO:0015469 False glass-chapman-hockley syndrome craniosynostosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -30458,10 +30025,8 @@ MONDO:0023288 MONDO:0002254 False green sandford davison syndrome syndromic dise MONDO:0023305 MONDO:0029000 False heavy metal poisoning poisoning UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0023368 MONDO:0002254 False Ho-Kaufman-McAlister syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0023388 MONDO:0005093 False pityriasis rotunda skin disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0023415 MONDO:0002026 False congenital candidiasis candidiasis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0023419 MONDO:0017355 False hyperprolinemia inborn disorder of proline metabolism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0023483 MONDO:0005550 False infectious myositis infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0023483 MONDO:0021167 False infectious myositis myositis disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0023510 MONDO:0002254 False Jaffer-Beighton syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0023510 MONDO:0008475 False Jaffer-Beighton syndrome spondylolisthesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0023513 MONDO:0009162 False Jeune syndrome situs inversus Ellis-van Creveld syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -30479,8 +30044,6 @@ MONDO:0023543 MONDO:0002254 False Katsantoni-Papadakou-Lagoyanni syndrome syndro MONDO:0023543 MONDO:0002917 False Katsantoni-Papadakou-Lagoyanni syndrome disorder of pilosebaceous unit UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0023551 MONDO:0005240 False C1q nephropathy kidney disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0023554 MONDO:0002329 False acquired testicular failure testicular disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0023557 MONDO:0002234 False infective vaginitis vaginitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0023557 MONDO:0005550 False infective vaginitis infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0023558 MONDO:0002254 False Kocher-debre-Semelaigne syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0023558 MONDO:0003939 False Kocher-debre-Semelaigne syndrome muscle tissue disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0023558 MONDO:0018612 False Kocher-debre-Semelaigne syndrome congenital hypothyroidism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -30502,18 +30065,13 @@ MONDO:0023581 MONDO:0002254 False Kuster syndrome syndromic disease UNSUPPORTED- MONDO:0023581 MONDO:0004747 False Kuster syndrome cleft lip UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0023581 MONDO:0016064 False Kuster syndrome cleft palate UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0023595 MONDO:0002320 False congenital myotonic dystrophy congenital nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0023595 MONDO:0016107 False congenital myotonic dystrophy myotonic dystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0023597 MONDO:0002354 False laryngeal papillomatosis benign laryngeal neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0023597 MONDO:0002363 False laryngeal papillomatosis papilloma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0023599 MONDO:0005516 False mesomelic dysplasia osteochondrodysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0023601 MONDO:0018479 False non-classic congenital adrenal hyperplasia congenital adrenal hyperplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0023603 MONDO:0003847 False hereditary disorder of connective tissue hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0023603 MONDO:0003900 False hereditary disorder of connective tissue connective tissue disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0023605 MONDO:0002254 False Laugier-Hunziker syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0023607 MONDO:0002254 False Laurence-Prosser-Rocker syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0023609 MONDO:0002254 False le Marec-Bracq-Picaud syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0023628 MONDO:0002254 False levator syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0023628 MONDO:0002519 False levator syndrome anus disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0023642 MONDO:0001584 False Weber syndrome ocular motility disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0023646 MONDO:0002406 False lipodermatosclerosis dermatitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0023646 MONDO:0006591 False lipodermatosclerosis panniculitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -30532,21 +30090,23 @@ MONDO:0023809 MONDO:0002254 False Milner-Khallouf-Gibson syndrome syndromic dise MONDO:0023820 MONDO:0002146 False Moebius axonal neuropathy hypogonadism hypogonadism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0023820 MONDO:0008006 False Moebius axonal neuropathy hypogonadism Mobius syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0023833 MONDO:0001280 False multifocal choroiditis choroiditis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0023865 MONDO:0003085 False corneal infection keratitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0023865 MONDO:0016047 False corneal infection endophthalmitis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0023868 MONDO:0005283 False melanoma associated retinopathy retinal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0023880 MONDO:0003847 False WHIM syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0023910 MONDO:0003847 False Martsolf syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0023961 MONDO:0003847 False visceral neuropathy, familial hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0024182 MONDO:0006676 False dry beriberi beriberi UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0024183 MONDO:0005071 False wet beriberi nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0024183 MONDO:0006676 False wet beriberi beriberi UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0024189 MONDO:0003847 False neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0024193 MONDO:0003847 False portal hypertension, noncirrhotic hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0024227 MONDO:0006580 False miliaria pustulosa miliaria UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0024228 MONDO:0006580 False miliaria profunda miliaria UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0024229 MONDO:0006580 False miliaria crystallina miliaria UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0024235 MONDO:0006054 False Brenner tumor reproductive system neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0024237 MONDO:0003847 False inherited neurodegenerative disorder hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0024237 MONDO:0005559 False inherited neurodegenerative disorder neurodegenerative disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0024238 MONDO:0005559 False cerebral degeneration neurodegenerative disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0024238 MONDO:0005560 False cerebral degeneration brain disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0024239 MONDO:0004995 False congenital anomaly of cardiovascular system cardiovascular disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0024239 MONDO:0021147 False congenital anomaly of cardiovascular system disorder of development or morphogenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0024249 MONDO:0006547 False pityriasis lichenoides exanthem UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0024249 MONDO:0006592 False pityriasis lichenoides parapsoriasis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -30554,6 +30114,8 @@ MONDO:0024249 MONDO:0019293 False pityriasis lichenoides skin vascular disease U MONDO:0024250 MONDO:0020683 False acute lichenoid pityriasis acute disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0024250 MONDO:0024249 False acute lichenoid pityriasis pityriasis lichenoides UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0024251 MONDO:0005071 False Minamata disease nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0024252 MONDO:0015653 False global developmental delay-neuro-ophthalmological abnormalities-seizures-intellectual disability syndrome monogenic epilepsy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0024257 MONDO:0020128 False hereditary motor neuron disease motor neuron disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0024257 MONDO:0024237 False hereditary motor neuron disease inherited neurodegenerative disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0024262 MONDO:0024263 False massive neonatal aspiration syndrome neonatal aspiration syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0024263 MONDO:0002254 False neonatal aspiration syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -30569,55 +30131,45 @@ MONDO:0024275 MONDO:0005644 False amebic dysentery amebiasis UNSUPPORTED-MISSING MONDO:0024277 MONDO:0002049 False neonatal thrombocytopenia thrombocytopenia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0024278 MONDO:0005292 False proctocolitis colitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0024278 MONDO:0005538 False proctocolitis proctitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0024279 MONDO:0000918 False chronic endometritis endometritis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0024280 MONDO:0005578 False polyarticular arthritis arthritic joint disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0024281 MONDO:0024280 False juvenile chronic polyarthritis polyarticular arthritis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0024283 MONDO:0006552 False Demodex folliculitis folliculitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0024283 MONDO:0017280 False Demodex folliculitis demodicidosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0024283 MONDO:0021201 False Demodex folliculitis skin infection UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0024283 MONDO:0024610 False Demodex folliculitis parasitic skin disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0024285 MONDO:0019464 False epsilon-heavy chain disease heavy chain disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0024286 MONDO:0000629 False benign blood vessel neoplasm cardiovascular organ benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0024287 MONDO:0024291 False congenital vascular malformation vascular malformation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0024288 MONDO:0024431 False hyperbilirubinemia bilirubin metabolism disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0024290 MONDO:0002025 False enuresis psychiatric disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0024291 MONDO:0005385 False vascular malformation vascular disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0024292 MONDO:0004335 False gastrointestinal polyp digestive system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0024292 MONDO:0005079 False gastrointestinal polyp polyp UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0024294 MONDO:0005093 False skin disorder caused by infection skin disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0024294 MONDO:0005550 False skin disorder caused by infection infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0024295 MONDO:0005113 False skin disease caused by bacterial infection bacterial infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0024295 MONDO:0024294 False skin disease caused by bacterial infection skin disorder caused by infection UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0024298 MONDO:0006873 False vitamin deficiency disorder nutritional deficiency disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0024299 MONDO:0005520 False vitamin D-dependent rickets rickets UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0024300 MONDO:0005520 False hypophosphatemic rickets rickets UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0024301 MONDO:0000226 False acquired mineral metabolism disease mineral metabolism disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0024301 MONDO:0006504 False acquired mineral metabolism disease acquired metabolic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0024302 MONDO:0001191 False internal hirudiniasis hirudiniasis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0024302 MONDO:0044991 False internal hirudiniasis upper digestive tract disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0024303 MONDO:0001191 False external hirudiniasis hirudiniasis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0024304 MONDO:0015947 False ichthyosis vulgaris inherited ichthyosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0024305 MONDO:0005804 False acquired hyperprolactinemia hyperprolactinemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0024305 MONDO:0006504 False acquired hyperprolactinemia acquired metabolic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0024306 MONDO:0006040 False acquired lactic acidosis lactic acidosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0024306 MONDO:0006504 False acquired lactic acidosis acquired metabolic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0024308 MONDO:0002051 False pseudoxanthoma elasticum (inherited or acquired) integumentary system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0024309 MONDO:0019941 False neuropathy, hereditary sensory and autonomic, type 2A hereditary sensory and autonomic neuropathy type 2 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0024310 MONDO:0002322 False angiodysplasia of stomach angiodysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0024310 MONDO:0004298 False angiodysplasia of stomach stomach disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0024311 MONDO:0002129 False cancer affecting bone of limb skeleton bone cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0024313 MONDO:0005113 False staphylococcal infection bacterial infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0024314 MONDO:0005135 False parasitemia parasitic infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0024314 MONDO:0005570 False parasitemia hematologic disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0024315 MONDO:0016047 False parasitic endophthalmitis endophthalmitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0024315 MONDO:0020947 False parasitic endophthalmitis parasitic eye infection UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0024316 MONDO:0003117 False physiological malfunction arising from mental factor somatoform disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0024317 MONDO:0700057 False chronic pain syndrome neurological pain disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0024318 MONDO:0005108 False viral infection of central nervous system viral infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0024318 MONDO:0024619 False viral infection of central nervous system central nervous system infectious disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0024325 MONDO:0002295 False cutaneous glomangiomyoma skin glomus tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0024325 MONDO:0024323 False cutaneous glomangiomyoma glomangiomyoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0024326 MONDO:0002373 False pleural adenomatoid tumor benign mesothelioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0024327 MONDO:0001106 False chronic renal failure syndrome kidney failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0024327 MONDO:0005300 False chronic renal failure syndrome chronic kidney disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0024330 MONDO:0005441 False infectious otitis media otitis media UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0024330 MONDO:0021666 False infectious otitis media ear infection UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0024332 MONDO:0011786 False perennial allergic rhinitis allergic rhinitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0024333 MONDO:0006960 False sciatica sciatic neuropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0024333 MONDO:0021667 False sciatica neuralgia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0024335 MONDO:0005885 False retrobulbar neuritis optic neuritis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -30628,9 +30180,7 @@ MONDO:0024345 MONDO:0006547 False pityriasis streptogenes exanthem UNSUPPORTED-M MONDO:0024346 MONDO:0006547 False pityriasis amiantacea exanthem UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0024349 MONDO:0006547 False pityriasis alba exanthem UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0024350 MONDO:0006547 False pityriasis steatoides exanthem UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0024352 MONDO:0005108 False viral respiratory tract infection viral infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0024352 MONDO:0024355 False viral respiratory tract infection respiratory tract infectious disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0024354 MONDO:0005132 False cytomegalovirus pneumonia cytomegalovirus infection UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0024354 MONDO:0006012 False cytomegalovirus pneumonia viral pneumonia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0024355 MONDO:0005087 False respiratory tract infectious disorder respiratory system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0024355 MONDO:0005550 False respiratory tract infectious disorder infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -30643,6 +30193,7 @@ MONDO:0024360 MONDO:0004731 False central sleep apnea caused by high altitude ce MONDO:0024363 MONDO:0005937 False rapid eye movement sleep disorder REM sleep behavior disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0024363 MONDO:0024361 False rapid eye movement sleep disorder circadian rhythm sleep disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0024376 MONDO:0003406 False sleep disorder, initiating and maintaining sleep sleep-wake disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0024387 MONDO:0024988 False benign ovarian sex cord-stromal tumor sex cord-stromal benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0024388 MONDO:0021679 False Clostridium infectious disease gram-positive bacterial infections UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0024388 MONDO:0024389 False Clostridium infectious disease anaerobic bacteria infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0024389 MONDO:0005113 False anaerobic bacteria infectious disease bacterial infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -30661,8 +30212,6 @@ MONDO:0024417 MONDO:0005071 False perceptual disorders nervous system disorder U MONDO:0024419 MONDO:0002183 False enthesitis enthesopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0024419 MONDO:0021166 False enthesitis inflammatory disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0024422 MONDO:0005084 False auditory perceptual disorders mental disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0024422 MONDO:0021945 False auditory perceptual disorders hearing disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0024429 MONDO:0002254 False Alice in Wonderland syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0024429 MONDO:0021084 False Alice in Wonderland syndrome vision disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0024430 MONDO:0024417 False allesthesia perceptual disorders UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0024431 MONDO:0005066 False bilirubin metabolism disease metabolic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -30672,28 +30221,23 @@ MONDO:0024455 MONDO:0008389 False autosomal dominant Robinow syndrome 1 autosoma MONDO:0024456 MONDO:0002289 False anterior segment dysgenesis 3 iris disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0024456 MONDO:0018174 False anterior segment dysgenesis 3 hereditary glaucoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0024456 MONDO:0100235 False anterior segment dysgenesis 3 FOXC1-related anterior segment dysgenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0024457 MONDO:0017998 False neurodegeneration with brain iron accumulation 2A PLA2G6-associated neurodegeneration UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0024457 MONDO:0020127 False neurodegeneration with brain iron accumulation 2A hereditary peripheral neuropathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0024458 MONDO:0700096 False disorder of visual system human disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0024459 MONDO:0005020 False Aeromonas hydrophila intestinal disease intestinal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0024459 MONDO:0005117 False Aeromonas hydrophila intestinal disease Aeromonas hydrophila infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0024459 MONDO:0043424 False Aeromonas hydrophila intestinal disease digestive system infectious disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0024462 MONDO:0005012 False familial cutaneous melanoma cutaneous melanoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0024462 MONDO:0018961 False familial cutaneous melanoma familial melanoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0024462 MONDO:0100118 False familial cutaneous melanoma hereditary skin disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0024462 MONDO:0015356 False susceptibility to familial cutaneous melanoma hereditary neoplastic syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0024467 MONDO:0006615 False apocrine sweat gland disorder sweat gland disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0024468 MONDO:0003381 False anterior pituitary gland disorder pituitary gland disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0024472 MONDO:0005677 False boutonneuse fever Rickettsia conorii infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0024473 MONDO:0005677 False Astrakhan spotted fever Rickettsia conorii infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0024477 MONDO:0002082 False liver and intrahepatic bile duct neoplasm endocrine gland neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0024478 MONDO:0006499 False mesenchymal hamartoma hamartoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0024480 MONDO:0003382 False dermatosis of eyelid eyelid disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0024481 MONDO:0002051 False skin appendage disorder integumentary system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0024482 MONDO:0002090 False eccrine sweat gland hamartoma eccrine sweat gland neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0024482 MONDO:0021539 False eccrine sweat gland hamartoma hamartoma of skin appendage UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0024483 MONDO:0002118 False urothelial hyperplasia urinary system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0024483 MONDO:0005043 False urothelial hyperplasia hyperplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0024485 MONDO:0024483 False papillary urothelial hyperplasia urothelial hyperplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0024487 MONDO:0002884 False nail infection nail disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0024487 MONDO:0005550 False nail infection infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0024489 MONDO:0024488 False general tumor grading characteristic tumor grading characteristic UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0024491 MONDO:0024495 False tumor grade 1, general grading system tumor grade 1 or 2, general grading system UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0024492 MONDO:0024495 False tumor grade 2, general grading system tumor grade 1 or 2, general grading system UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -30701,10 +30245,7 @@ MONDO:0024492 MONDO:0024496 False tumor grade 2, general grading system tumor gr MONDO:0024493 MONDO:0024496 False tumor grade 3, general grading system tumor grade 2 or 3, general grading system UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0024493 MONDO:0024497 False tumor grade 3, general grading system tumor grade 3 or 4, general grading system UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0024494 MONDO:0024497 False tumor grade 4, general grading system tumor grade 3 or 4, general grading system UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0024496 MONDO:0024489 False tumor grade 2 or 3, general grading system general tumor grading characteristic UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0024497 MONDO:0024489 False tumor grade 3 or 4, general grading system general tumor grading characteristic UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0024501 MONDO:0002882 False appendix neuroendocrine neoplasm colon neuroendocrine neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0024504 MONDO:0021535 False enterochromaffin cell serotonin-producing pancreatic neuroendocrine tumor pancreatic neuroendocrine tumor G1 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0024506 MONDO:0019713 False Adams-Oliver syndrome 1 non-syndromic limb reduction defect UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0024512 MONDO:0020573 False spondyloarthropathy, susceptibility to inherited disease susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0024516 MONDO:0006559 False familial acne inversa hidradenitis suppurativa UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -30720,36 +30261,35 @@ MONDO:0024538 MONDO:0700007 False basal ganglia calcification, idiopathic, 1 idi MONDO:0024539 MONDO:0043218 False choroidal dystrophy, central areolar, 1 neurovascular disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0024539 MONDO:0100441 False choroidal dystrophy, central areolar, 1 GUCY2D-related dominant retinopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0024545 MONDO:0016145 False Miyoshi muscular dystrophy 1 qualitative or quantitative defects of dysferlin UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0024548 MONDO:0010033 False peeling skin syndrome 1 generalized peeling skin syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0024551 MONDO:0010627 False X-linked lymphoproliferative disease due to SH2D1A deficiency X-linked lymphoproliferative syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0024551 MONDO:0020605 False X-linked lymphoproliferative disease due to SH2D1A deficiency X-linked recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0024555 MONDO:0011391 False megalencephalic leukoencephalopathy with subcortical cysts 1 megalencephalic leukoencephalopathy with subcortical cysts UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0024561 MONDO:0011979 False vitelliform macular dystrophy 3 adult-onset foveomacular vitelliform dystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0024563 MONDO:0015979 False herpes simplex encephalitis, susceptibility to, 1 hereditary predisposition to infections UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0024566 MONDO:0005071 False febrile seizures, familial, 11 nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0024569 MONDO:0014720 False optic atrophy 8 autosomal dominant optic atrophy plus syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0024570 MONDO:0015027 False hyperparathyroidism 4 familial isolated hyperparathyroidism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0024570 MONDO:0019060 False hyperparathyroidism 4 bone neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0024570 MONDO:0023603 False hyperparathyroidism 4 hereditary disorder of connective tissue UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0024570 MONDO:0800096 False hyperparathyroidism 4 abnormal mineralization disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0024571 MONDO:0021674 False AIDS-related disorder post-viral disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0024571 MONDO:0024572 False AIDS-related disorder immunodeficiency-related disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0024572 MONDO:0005046 False immunodeficiency-related disorder immune system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0024573 MONDO:0005217 False familial hypertrophic cardiomyopathy familial cardiomyopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0024574 MONDO:0002242 False von Willebrand disease (hereditary or acquired) coagulation protein disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0024575 MONDO:0700003 False pregnancy disorder obstetric disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0024607 MONDO:0019950 False congenital muscular dystrophy with cataracts and intellectual disability congenital muscular dystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0024608 MONDO:0002428 False dientamoebiasis protozoa infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0024608 MONDO:0024270 False dientamoebiasis parasitic intestinal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0024610 MONDO:0005135 False parasitic skin disorder parasitic infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0024610 MONDO:0024294 False parasitic skin disorder skin disorder caused by infection UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0024611 MONDO:0002022 False orbit neoplasm disorder of orbital region UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0024611 MONDO:0023369 False orbit neoplasm disorder of facial skeleton UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0024611 MONDO:0024653 False orbit neoplasm skull neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0024612 MONDO:0004985 False manic bipolar affective disorder bipolar disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0024613 MONDO:0002050 False bipolar depression depressive disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0024613 MONDO:0004985 False bipolar depression bipolar disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0024614 MONDO:0002050 False neurotic depression depressive disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0024616 MONDO:0003648 False tympanitis tympanic membrane disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0024616 MONDO:0005441 False tympanitis otitis media UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0024617 MONDO:0015531 False xanthogranuloma non-Langerhans cell histiocytosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0024618 MONDO:0005747 False poliovirus infection enterovirus infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0024619 MONDO:0002602 False central nervous system infectious disorder central nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0024619 MONDO:0020010 False central nervous system infectious disorder infectious disorder of the nervous system UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0024620 MONDO:0004796 False meningitis caused by poliovirus infectious meningitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0024620 MONDO:0024318 False meningitis caused by poliovirus viral infection of central nervous system UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0024620 MONDO:0024618 False meningitis caused by poliovirus poliovirus infection UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -30764,7 +30304,6 @@ MONDO:0024634 MONDO:0005020 False large intestine disorder intestinal disorder U MONDO:0024635 MONDO:0005020 False small intestine disorder intestinal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0024636 MONDO:0005267 False inflammation of heart layer heart disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0024636 MONDO:0021166 False inflammation of heart layer inflammatory disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0024643 MONDO:0005267 False myocardial disorder heart disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0024644 MONDO:0005053 False myocardial ischemia ischemic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0024644 MONDO:0024643 False myocardial ischemia myocardial disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0024648 MONDO:0000642 False optic tract meningioma brain meningioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -30784,12 +30323,11 @@ MONDO:0024659 MONDO:0043424 False colorectal Kaposi sarcoma digestive system inf MONDO:0024663 MONDO:0003363 False primary skin meningioma malignant dermis tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0024663 MONDO:0004429 False primary skin meningioma skin meningioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0024664 MONDO:0005044 False hypertension, pregnancy-induced hypertensive disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0024664 MONDO:0024575 False hypertension, pregnancy-induced pregnancy disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0024665 MONDO:0002145 False indeterminate sex and/or pseudohermaphroditism disorder of sexual differentiation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0024673 MONDO:0024666 False skin lymphangioma benign epithelial skin neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0024674 MONDO:0021058 False Pancoast syndrome neoplastic syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0024674 MONDO:0024882 False Pancoast syndrome secondary neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0024686 MONDO:0000631 False tenosynovial giant cell tumor, diffuse type bone benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0024686 MONDO:0002400 False tenosynovial giant cell tumor, diffuse type synovitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0024686 MONDO:0005554 False tenosynovial giant cell tumor, diffuse type rheumatic disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0024857 MONDO:0003514 False immature extragonadal teratoma malignant teratoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0024857 MONDO:0003578 False immature extragonadal teratoma extragonadal nonseminomatous germ cell tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -30805,7 +30343,6 @@ MONDO:0024889 MONDO:0002513 False benign mesonephroma kidney benign neoplasm UNS MONDO:0024889 MONDO:0024888 False benign mesonephroma mesonephric neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0024889 MONDO:0036976 False benign mesonephroma benign epithelial neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0024891 MONDO:0021108 False non-infectious meningitis meningitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0024892 MONDO:0006424 False soft tissue amyloid neoplasm soft tissue neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0024893 MONDO:0005988 False toxocara canis infection (canine roundworms) toxocariasis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0024905 MONDO:0005583 False bird disease non-human animal disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0024912 MONDO:0005583 False cat disease non-human animal disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -30832,6 +30369,7 @@ MONDO:0024973 MONDO:0005678 False pneumonia, atypical interstitial, of cattle bo MONDO:0024981 MONDO:0005583 False rodent disease non-human animal disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0024982 MONDO:0700050 False salmonella infections, animal bacterial infectious disease, non-human animal UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0024985 MONDO:0005583 False sheep disease non-human animal disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0024988 MONDO:0000383 False sex cord-stromal benign neoplasm benign reproductive system neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0024988 MONDO:0006055 False sex cord-stromal benign neoplasm sex cord-stromal tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0024990 MONDO:0005583 False swine disease non-human animal disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0025003 MONDO:0005583 False goat disease non-human animal disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -30881,7 +30419,10 @@ MONDO:0025159 MONDO:0024990 False pneumonia of swine, mycoplasmal swine disease MONDO:0025159 MONDO:0700111 False pneumonia of swine, mycoplasmal bacterial pneumonia, non-human animal UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0025163 MONDO:0024913 False white heifer disease cattle disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0025167 MONDO:0024905 False reticuloendotheliosis, avian bird disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0025193 MONDO:0016106 False oculopharyngodistal myopathy progressive muscular dystrophy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0025193 MONDO:0018949 False oculopharyngodistal myopathy distal myopathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS MONDO:0025263 MONDO:0024950 False strongyle infections, equine horse disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0025263 MONDO:0025082 False strongyle infections, equine helminthiasis, animal UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0025263 MONDO:0700209 False strongyle infections, equine Strongylida infectious disease, non-human animal UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0025270 MONDO:0025114 False toxoplasmosis, non-human animal protozoan infections, animal UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0025271 MONDO:0024913 False trypanosomiasis, bovine cattle disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -30952,6 +30493,8 @@ MONDO:0025506 MONDO:0700049 False porcine postweaning multisystemic wasting synd MONDO:0025513 MONDO:0005492 False autoimmune urticaria urticaria UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0025513 MONDO:0007179 False autoimmune urticaria autoimmune disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0025514 MONDO:0005093 False livedoid vasculopathy skin disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0025514 MONDO:0018882 False livedoid vasculopathy vasculitis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0025556 MONDO:0004784 False isocyanate induced asthma allergic asthma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0025598 MONDO:0005701 False pneumonia caused by chlamydia chlamydia trachomatis infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0025598 MONDO:0041850 False pneumonia caused by chlamydia pneumonia caused by gram negative bacteria UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0025622 MONDO:0015626 False Charcot-Marie-Tooth disease, axonal, mitochondrial form, 1 Charcot-Marie-Tooth disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING @@ -30961,14 +30504,19 @@ MONDO:0025986 MONDO:0003847 False megacystis-microcolon-intestinal hypoperistals MONDO:0025986 MONDO:0021189 False megacystis-microcolon-intestinal hypoperistalsis syndrome intestinal motility disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0026404 MONDO:0100209 False X inactivation, familial skewed, 1 X inactivation, familial skewed UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0026426 MONDO:0100209 False X inactivation, familial skewed, 2 X inactivation, familial skewed UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0026722 MONDO:0003847 False Mullegama-Klein-Martinez syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0026727 MONDO:0003847 False Shukla-Vernon syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0026730 MONDO:0002254 False Basilicata-Akhtar syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0026763 MONDO:0020605 False holoprosencephaly 13, X-linked X-linked recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0026777 MONDO:0019751 False VEXAS syndrome autoinflammatory syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0026777 MONDO:0023603 False VEXAS syndrome hereditary disorder of connective tissue UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0027026 MONDO:0002149 False Buschke Lowenstein tumor reproductive system cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0027026 MONDO:0005647 False Buschke Lowenstein tumor anogenital human papillomavirus infection UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0027026 MONDO:0006006 False Buschke Lowenstein tumor verrucous carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0027068 MONDO:0100134 False mitochondrial complex 1 deficiency, mitochondrial type 1 mitochondrial complex I deficiency, mitochondrial type UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0027069 MONDO:0014471 False mitochondrial complex 5 (ATP synthase) deficiency, mitochondrial type 1 mitochondrial proton-transporting ATP synthase complex deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS MONDO:0027091 MONDO:0006969 False xanthogranulomatous sialadenitis sialadenitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0027353 MONDO:0015780 False autosomal recessive dyskeratosis congenita 4 dyskeratosis congenita UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0027451 MONDO:0019573 False autosomal recessive cutis laxa type 2D autosomal recessive cutis laxa type 2 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0027462 MONDO:0019573 False autosomal recessive cutis laxa type 2C autosomal recessive cutis laxa type 2 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0027652 MONDO:0800390 False 5-fluorouracil toxicity chemotherapy-induced toxicity UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -30987,6 +30535,7 @@ MONDO:0028226 MONDO:0006025 False autosomal recessive severe congenital neutrope MONDO:0029000 MONDO:0700096 False poisoning human disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0029130 MONDO:0019673 False polydactyly, postaxial, type A8 postaxial polydactyly type A UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0029131 MONDO:0003847 False peripheral neuropathy, autosomal recessive, with or without impaired intellectual development hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0029134 MONDO:0006025 False severe combined immunodeficiency due to CARMIL2 deficiency autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0029134 MONDO:0015974 False severe combined immunodeficiency due to CARMIL2 deficiency severe combined immunodeficiency UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0029135 MONDO:0700075 False muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 8 congenital muscular dystrophy caused by variation in POMGNT2 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0029136 MONDO:0100228 False muscular dystrophy, limb-girdle, autosomal recessive 23 LAMA2-related muscular dystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -30995,11 +30544,13 @@ MONDO:0029140 MONDO:0015286 False glycosylphosphatidylinositol biosynthesis defe MONDO:0029140 MONDO:0024321 False glycosylphosphatidylinositol biosynthesis defect 18 disorder of GPI anchor biosynthesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0029143 MONDO:0003847 False intellectual developmental disorder with hypertelorism and distinctive facies hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0029144 MONDO:0003847 False extraoral halitosis due to methanethiol oxidase deficiency hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0029465 MONDO:0100172 False intellectual developmental disorder, autosomal dominant 69 intellectual disability, autosomal dominant UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0030005 MONDO:0003847 False epilepsy, early-onset, with or without developmental delay hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0030012 MONDO:0003847 False Diets-Jongmans syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0030018 MONDO:0003847 False autoinflammation with episodic fever and lymphadenopathy hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0030024 MONDO:0100500 False neurodevelopmental disorder with or without autistic features and/or structural brain abnormalities Mendelian neurodevelopmental disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0030025 MONDO:0100500 False neurodevelopmental disorder with hypotonia, microcephaly, and seizures Mendelian neurodevelopmental disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0030026 MONDO:0003847 False retinal dystrophy with leukodystrophy hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0030028 MONDO:0003847 False neurodegeneration, childhood-onset, with ataxia, tremor, optic atrophy, and cognitive decline hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0030029 MONDO:0003847 False skeletal dysplasia, mild, with joint laxity and advanced bone age hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0030030 MONDO:0003847 False Nizon-Isidor syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -31018,39 +30569,44 @@ MONDO:0030045 MONDO:0003847 False Liberfarb syndrome hereditary disease UNSUPPOR MONDO:0030046 MONDO:0100500 False neurodevelopmental disorder and structural brain anomalies with or without seizures and spasticity Mendelian neurodevelopmental disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0030047 MONDO:0003847 False microcephaly, developmental delay, and brittle hair syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0030048 MONDO:0800180 False harderoporphyria CPOX-related hereditary coproporphyria UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0030049 MONDO:0003847 False 46,xx sex reversal 5 hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0030051 MONDO:0003847 False intellectual developmental disorder with autistic features and language delay, with or without seizures hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0030055 MONDO:0015363 False neuronopathy, distal hereditary motor, autosomal recessive 8 neuronopathy, distal hereditary motor, autosomal recessive UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0030057 MONDO:0003847 False neurodevelopmental, jaw, eye, and digital syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0030060 MONDO:0100500 False neurodevelopmental disorder with language impairment and behavioral abnormalities Mendelian neurodevelopmental disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0030063 MONDO:0100500 False neurodevelopmental disorder with seizures, hypotonia, and brain imaging abnormalities Mendelian neurodevelopmental disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0030065 MONDO:0003847 False agenesis of corpus callosum, cardiac, ocular, and genital syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0030071 MONDO:0003847 False retinitis pigmentosa 89 hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0030073 MONDO:0100306 False Mitchell syndrome disorder of defective peroxisome oxidative status UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0030074 MONDO:0003847 False spondylometaphyseal dysplasia with corneal dystrophy hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0030105 MONDO:0800152 False galactosemia 4 disorder of galactose and fructose metabolism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0030313 MONDO:0800174 False encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 10 encephalitis, acute, infection-induced, susceptibility to UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0030334 MONDO:0800174 False encephalitis, acute, infection (viral)-induced, susceptibility to, 11 encephalitis, acute, infection-induced, susceptibility to UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0030341 MONDO:0002320 False myasthenic syndrome, congenital, 7B, presynaptic, autosomal recessive congenital nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0030434 MONDO:0020573 False epilepsy, idiopathic generalized, susceptibility to, 18 inherited disease susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0030502 MONDO:0700064 False tetrasomy aneuploidy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0030602 MONDO:0004652 False Klebsiella pneumonia bacterial pneumonia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0030602 MONDO:0030603 False Klebsiella pneumonia Klebsiella infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0030603 MONDO:0005113 False Klebsiella infectious disease bacterial infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0030639 MONDO:0003847 False Teebi hypertelorism syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0030681 MONDO:0018037 False immunodeficiency 94 with autoinflammation and dysmorphic facies hyper-IgE syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0030700 MONDO:0002462 False autoimmune glomerulonephritis glomerulonephritis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0030700 MONDO:0007179 False autoimmune glomerulonephritis autoimmune disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0030701 MONDO:0000589 False autoimmune cardiomyopathy autoimmune disorder of musculoskeletal system UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0030701 MONDO:0000603 False autoimmune cardiomyopathy autoimmune disorder of cardiovascular system UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0030701 MONDO:0004994 False autoimmune cardiomyopathy cardiomyopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0030702 MONDO:0000603 False autoimmune atherosclerosis autoimmune disorder of cardiovascular system UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0030702 MONDO:0005311 False autoimmune atherosclerosis atherosclerosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0030703 MONDO:0000603 False autoimmune vasculitis autoimmune disorder of cardiovascular system UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0030703 MONDO:0018882 False autoimmune vasculitis vasculitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0030705 MONDO:0002154 False Trichomonas prostatitis trichomoniasis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0030705 MONDO:0005280 False Trichomonas prostatitis prostatitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0030706 MONDO:0005993 False Trichomonas cystitis Trichomonas vaginitis urogenital infection UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0030706 MONDO:0006032 False Trichomonas cystitis cystitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0030707 MONDO:0001618 False Trichomonas balanoposthitis balanoposthitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0030707 MONDO:0002154 False Trichomonas balanoposthitis trichomoniasis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0030708 MONDO:0002154 False Trichomonas cervicitis trichomoniasis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0030708 MONDO:0002345 False Trichomonas cervicitis cervicitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0030720 MONDO:0005993 False trichomonal vulvovaginitis Trichomonas vaginitis urogenital infection UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0030720 MONDO:0007019 False trichomonal vulvovaginitis vulvovaginitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0030720 MONDO:0023557 False trichomonal vulvovaginitis infective vaginitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0030796 MONDO:0003847 False leukoencephalopathy, hereditary diffuse, with spheroids hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0030805 MONDO:0020380 False spinocerebellar ataxia 49 autosomal dominant cerebellar ataxia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0030827 MONDO:0015372 False macrothrombocytopenia, isolated, 2, autosomal dominant autosomal dominant macrothrombocytopenia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0030831 MONDO:0003847 False gastrointestinal defect and immunodeficiency syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0030835 MONDO:0003847 False developmental delay, impaired growth, dysmorphic facies, and axonal neuropathy hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -31062,40 +30618,71 @@ MONDO:0030859 MONDO:0100349 False COACH syndrome 2 COACH syndrome UNSUPPORTED-MI MONDO:0030860 MONDO:0100350 False neuronopathy, distal hereditary motor, type 5C neuronopathy, distal hereditary motor, type 5 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0030862 MONDO:0100349 False COACH syndrome 3 COACH syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0030866 MONDO:0100500 False neurodevelopmental disorder with cardiomyopathy, spasticity, and brain abnormalities Mendelian neurodevelopmental disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0030871 MONDO:0003847 False vertebral hypersegmentation and orofacial anomalies hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0030872 MONDO:0030923 False frontotemporal dementia and/or amyotrophic lateral sclerosis 8 frontotemporal dementia and/or amyotrophic lateral sclerosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0030873 MONDO:0003847 False cardiofacioneurodevelopmental syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0030875 MONDO:0030923 False frontotemporal dementia and/or amyotrophic lateral sclerosis 5 frontotemporal dementia and/or amyotrophic lateral sclerosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0030878 MONDO:0003847 False Kaya-Barakat-Masson syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0030880 MONDO:0003847 False mandibuloacral dysplasia progeroid syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0030885 MONDO:0005144 False amyotrophic lateral sclerosis 26 with or without frontotemporal dementia familial amyotrophic lateral sclerosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0030890 MONDO:0020135 False pontocerebellar hypoplasia, IIA 17 pontocerebellar hypoplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0030891 MONDO:0100172 False intellectual developmental disorder, autosomal dominant 66 intellectual disability, autosomal dominant UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0030893 MONDO:0003847 False leukoencephalopathy, progressive, infantile-onset, with or without deafness hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0030896 MONDO:0016911 False chromosome 13q33-q34 deletion syndrome partial deletion of the long arm of chromosome 13 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0030897 MONDO:0003847 False Lessel-Kreienkamp syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0030900 MONDO:0003847 False intellectual developmental disorder with paroxysmal dyskinesia or seizures hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0030906 MONDO:0002154 False Trichomonas tenax infectious disease trichomoniasis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0030910 MONDO:0015802 False intellectual disability, autosomal dominant 45 autosomal dominant non-syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0030911 MONDO:0015802 False intellectual disability, autosomal dominant 46 autosomal dominant non-syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0030912 MONDO:0002320 False intellectual disability, autosomal dominant 47 congenital nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0030912 MONDO:0015159 False intellectual disability, autosomal dominant 47 multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0030912 MONDO:0015802 False intellectual disability, autosomal dominant 47 autosomal dominant non-syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0030913 MONDO:0000508 False intellectual disability, autosomal dominant 48 syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0030913 MONDO:0002320 False intellectual disability, autosomal dominant 48 congenital nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0030913 MONDO:0015159 False intellectual disability, autosomal dominant 48 multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0030914 MONDO:0015802 False Clark-Baraitser syndrome autosomal dominant non-syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0030916 MONDO:0015802 False intellectual disability, autosomal dominant 50 autosomal dominant non-syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0030917 MONDO:0015802 False intellectual disability, autosomal dominant 51 autosomal dominant non-syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0030918 MONDO:0015802 False intellectual disability, autosomal dominant 52 autosomal dominant non-syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0030919 MONDO:0015802 False intellectual disability, autosomal dominant 53 autosomal dominant non-syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0030920 MONDO:0015802 False intellectual disability, autosomal dominant 54 autosomal dominant non-syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0030921 MONDO:0015802 False intellectual disability, autosomal dominant 55, with seizures autosomal dominant non-syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0030922 MONDO:0015802 False intellectual disability, autosomal dominant 56 autosomal dominant non-syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0030923 MONDO:0024237 False frontotemporal dementia and/or amyotrophic lateral sclerosis inherited neurodegenerative disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0030928 MONDO:0007988 False microcephaly 26, primary, autosomal dominant autosomal dominant primary microcephaly UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0030929 MONDO:0007988 False microcephaly 27, primary, autosomal dominant autosomal dominant primary microcephaly UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0030930 MONDO:0100500 False neurodevelopmental disorder with or without early-onset generalized epilepsy Mendelian neurodevelopmental disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0030947 MONDO:0003847 False neurodegeneration, childhood-onset, with hypotonia, respiratory insufficiency, and brain imaging abnormalities hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0030957 MONDO:0100062 False developmental and epileptic encephalopathy 103 developmental and epileptic encephalopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS +MONDO:0030958 MONDO:0044807 False dystonia 35, childhood-onset inherited dystonia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0030963 MONDO:0003847 False Li-Campeau syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0030964 MONDO:0100172 False intellectual developmental disorder, autosomal dominant 67 intellectual disability, autosomal dominant UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0030966 MONDO:0003847 False neurofacioskeletal syndrome with or without renal agenesis hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0030967 MONDO:0003847 False deafness, congenital, and adult-onset progressive leukoencephalopathy hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0030968 MONDO:0019502 False intellectual developmental disorder, autosomal recessive 76 autosomal recessive non-syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS +MONDO:0030969 MONDO:0100172 False intellectual developmental disorder, autosomal dominant 68 intellectual disability, autosomal dominant UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0030970 MONDO:0021094 False immunodeficiency 106, susceptibility to viral infections immunodeficiency disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0030972 MONDO:0004983 False spermatogenic failure 74 spermatogenic failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0030975 MONDO:0019852 False premature ovarian failure 20 inherited primary ovarian failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0030976 MONDO:0003847 False oculomotor-abducens synkinesis hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0030977 MONDO:0015363 False neuronopathy, distal hereditary motor, autosomal recessive 7 neuronopathy, distal hereditary motor, autosomal recessive UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0030978 MONDO:0003847 False endove syndrome, limb-only type hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0030979 MONDO:0003847 False endove syndrome, limb-brain type hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0030981 MONDO:0015974 False immunodeficiency 79 severe combined immunodeficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0030982 MONDO:0019052 False sulfide quinone oxidoreductase deficiency inborn errors of metabolism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0030983 MONDO:0018094 False Waardenburg syndrome, IIa 2F Waardenburg syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0030984 MONDO:0004983 False spermatogenic failure 75 spermatogenic failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0030986 MONDO:0003847 False blistering, acantholytic, of oral and laryngeal mucosa hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0030987 MONDO:0003847 False vertebral, cardiac, tracheoesophageal, renal, and limb defects hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0030988 MONDO:0003847 False developmental delay with dysmorphic facies and dental anomalies hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0030990 MONDO:0003847 False Kohlschutter-Tonz syndrome-like hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0030991 MONDO:0003847 False bile acid conjugation defect 1 hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0030992 MONDO:0003847 False short stature, oligodontia, dysmorphic facies, and motor delay hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0030993 MONDO:0031400 False Tessadori-Van Haaften neurodevelopmental syndrome 3 Tessadori-Van-Haaften neurodevelopmental syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0030994 MONDO:0100500 False neurodevelopmental disorder with or without autism or seizures Mendelian neurodevelopmental disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0030995 MONDO:0003847 False global developmental delay with speech and behavioral abnormalities hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0030999 MONDO:0100500 False neurodevelopmental disorder with cerebral atrophy and variable facial dysmorphism Mendelian neurodevelopmental disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0031000 MONDO:0031400 False Tessadori-Van Haaften neurodevelopmental syndrome 4 Tessadori-Van-Haaften neurodevelopmental syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0031001 MONDO:0003847 False vitreoretinopathy with phalangeal epiphyseal dysplasia hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0031002 MONDO:0003847 False Baralle-Macken syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0031006 MONDO:0003847 False neurodegeneration with ataxia and late-onset optic atrophy hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -31103,12 +30690,36 @@ MONDO:0031007 MONDO:0002320 False spondyloepiphyseal dysplasia, sensorineural he MONDO:0031007 MONDO:0800101 False spondyloepiphyseal dysplasia, sensorineural hearing loss, impaired intellectual development, and leber congenital amaurosis NMNAT1-related retinopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0031008 MONDO:0005377 False nephrotic syndrome, type 24 nephrotic syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0031011 MONDO:0100500 False neurodevelopmental disorder with dysmorphic facies and variable seizures Mendelian neurodevelopmental disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0031012 MONDO:0000587 False autoimmune uveitis autoimmune disease of ear, nose and throat UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0031012 MONDO:0020283 False autoimmune uveitis uveitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0031013 MONDO:0000568 False autoimmune optic neuritis autoimmune disorder of central nervous system UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0031013 MONDO:0000590 False autoimmune optic neuritis autoimmune disorder of peripheral nervous system UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0031013 MONDO:0005885 False autoimmune optic neuritis optic neuritis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0031014 MONDO:0004966 False autoimmune gastritis gastritis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0031014 MONDO:0000588 False autoimmune gastritis autoimmune disorder of gastrointestinal tract UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0031019 MONDO:0019064 False spastic paraplegia 87, autosomal recessive hereditary spastic paraplegia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0031021 MONDO:0100062 False developmental and epileptic encephalopathy 104 developmental and epileptic encephalopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS +MONDO:0031028 MONDO:0100062 False developmental and epileptic encephalopathy 105 with hypopituitarism developmental and epileptic encephalopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS +MONDO:0031030 MONDO:0021094 False immunodeficiency 107, susceptibility to invasive staphylococcus aureus infection immunodeficiency disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0031031 MONDO:0019502 False intellectual developmental disorder, autosomal recessive 77 autosomal recessive non-syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS MONDO:0031037 MONDO:0000820 False famililal cerebral cavernous malformations cerebral cavernous malformation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0031037 MONDO:0003847 False famililal cerebral cavernous malformations hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0031040 MONDO:0015762 False cholestasis, progressive familial intrahepatic, 12 progressive familial intrahepatic cholestasis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0031043 MONDO:0019313 False lymphatic malformation 12 lymphatic malformation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS +MONDO:0031044 MONDO:0015609 False advance sleep phase syndrome, familial, 4 advanced sleep phase syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0031045 MONDO:0019942 False arthrogryposis, distal, IIa 11 distal arthrogryposis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0031047 MONDO:0019354 False stickler syndrome, IIa 6 Stickler syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0031052 MONDO:0100062 False developmental and epileptic encephalopathy 106 developmental and epileptic encephalopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS +MONDO:0031054 MONDO:0016575 False ciliary dyskinesia, primary, 48, without situs inversus primary ciliary dyskinesia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0031055 MONDO:0100062 False developmental and epileptic encephalopathy 107 developmental and epileptic encephalopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS +MONDO:0031057 MONDO:0015780 False dyskeratosis congenita, digenic dyskeratosis congenita UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0031060 MONDO:0016660 False microcephaly 29, primary, autosomal recessive autosomal recessive primary microcephaly UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0031061 MONDO:0002350 False nephrotic syndrome, IIa 26 familial nephrotic syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0031062 MONDO:0020642 False polycystic kidney disease 7 polycystic kidney disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0031068 MONDO:0015626 False Charcot-Marie-Tooth disease, axonal, IIa 2II Charcot-Marie-Tooth disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0031071 MONDO:0015253 False Diamond-Blackfan anemia 21 Diamond-Blackfan anemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0031077 MONDO:0004983 False spermatogenic failure 76 spermatogenic failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0031083 MONDO:0004983 False spermatogenic failure 77 spermatogenic failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0031084 MONDO:0019507 False amelogenesis imperfecta, IIa 1K amelogenesis imperfecta UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0031115 MONDO:0003847 False dyskinesia with orofacial involvement hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0031166 MONDO:0020242 False macular dystrophy, retinal hereditary macular dystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0031169 MONDO:0016763 False odontochondrodysplasia spondylometaphyseal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING @@ -31123,6 +30734,7 @@ MONDO:0031257 MONDO:0006932 False high altitude pulmonary edema pulmonary edema MONDO:0031280 MONDO:0003847 False Stuve-Wiedemann syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0031322 MONDO:0002285 False triopia pupil disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0031323 MONDO:0003847 False cardiac valvular defect hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0031329 MONDO:0002254 False craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0031329 MONDO:0003847 False craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0031376 MONDO:0019052 False congenital disorder of deglycosylation inborn errors of metabolism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0031384 MONDO:0019751 False autoinflammatory syndrome, familial, Behcet-like autoinflammatory syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -31130,6 +30742,7 @@ MONDO:0031384 MONDO:0023603 False autoinflammatory syndrome, familial, Behcet-li MONDO:0031386 MONDO:0003847 False cardioacrofacial dysplasia hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0031400 MONDO:0003847 False Tessadori-Van-Haaften neurodevelopmental syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0031415 MONDO:0003847 False Carey-Fineman-Ziter syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0031421 MONDO:0019272 False Olmsted syndrome hereditary palmoplantar keratoderma UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0031422 MONDO:0019248 False familial mucolipidosis mucolipidosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0031432 MONDO:0003847 False thyroid hormone metabolism, abnormal hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0031432 MONDO:0005151 False thyroid hormone metabolism, abnormal endocrine system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -31155,11 +30768,14 @@ MONDO:0032596 MONDO:0002320 False myasthenic syndrome, congenital, 23, presynapt MONDO:0032597 MONDO:0002320 False myasthenic syndrome, congenital, 24, presynaptic congenital nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0032600 MONDO:0003847 False Snijders Blok-Campeau syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0032601 MONDO:0003847 False inflammatory bowel disease, immunodeficiency, and encephalopathy hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0032607 MONDO:0003847 False vertebral anomalies and variable endocrine and T-cell dysfunction hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0032642 MONDO:0003847 False arthrogryposis, cleft palate, craniosynostosis, and impaired intellectual development hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0032645 MONDO:0003847 False trichohepatoneurodevelopmental syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0032648 MONDO:0003847 False mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0032650 MONDO:0003847 False neurodegeneration, childhood-onset, with cerebellar atrophy hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0032651 MONDO:0003847 False fibrosis, neurodegeneration, and cerebral angiomatosis hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0032653 MONDO:0003847 False cardiac-urogenital syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0032655 MONDO:0003847 False visual impairment and progressive phthisis bulbi hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0032656 MONDO:0003847 False microcephaly, cataracts, impaired intellectual development, and dystonia with abnormal striatum hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0032658 MONDO:0003847 False macrocephaly, acquired, with impaired intellectual development hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0032659 MONDO:0003847 False mucocutaneous ulceration, chronic hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -31173,6 +30789,7 @@ MONDO:0032680 MONDO:0003847 False global developmental delay with or without imp MONDO:0032681 MONDO:0100198 False encephalopathy, progressive, early-onset, with episodic rhabdomyolysis Mendelian encephalopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0032684 MONDO:0800063 False intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, genital anomalies, and immunodeficiency primordial dwarfism and slender bone disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0032685 MONDO:0003847 False infantile cataract, skin abnormalities, glutamate excess, and impaired intellectual development hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0032687 MONDO:0003847 False intellectual developmental disorder with abnormal behavior, microcephaly, and short stature hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0032688 MONDO:0003847 False polymicrogyria with or without vascular-type Ehlers-Danlos syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0032690 MONDO:0003847 False microcephaly, growth deficiency, seizures, and brain malformations hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0032697 MONDO:0100500 False neurodevelopmental disorder and language delay with or without structural brain abnormalities Mendelian neurodevelopmental disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -31181,22 +30798,33 @@ MONDO:0032699 MONDO:0020573 False epilepsy, idiopathic generalized, susceptibili MONDO:0032702 MONDO:0700120 False Coffin-Siris syndrome 8 BAFopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0032703 MONDO:0003847 False short stature, amelogenesis imperfecta, and skeletal dysplasia with scoliosis hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0032703 MONDO:0005172 False short stature, amelogenesis imperfecta, and skeletal dysplasia with scoliosis skeletal system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0032705 MONDO:0017313 False neurodevelopmental disorder with microcephaly, epilepsy, and hypomyelination disorder of folate metabolism and transport UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0032705 MONDO:0019046 False neurodevelopmental disorder with microcephaly, epilepsy, and hypomyelination leukodystrophy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0032705 MONDO:0100500 False neurodevelopmental disorder with microcephaly, epilepsy, and hypomyelination Mendelian neurodevelopmental disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0032707 MONDO:0003847 False turnpenny-fry syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0032714 MONDO:0003847 False facial dysmorphism, hypertrichosis, epilepsy, intellectual/developmental delay, and gingival overgrowth syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0032716 MONDO:0003847 False leukoencephalopathy, acute reversible, with increased urinary alpha-ketoglutarate hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0032716 MONDO:0020683 False leukoencephalopathy, acute reversible, with increased urinary alpha-ketoglutarate acute disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0032721 MONDO:0016761 False spondyloepiphyseal dysplasia, kondo-fu type spondyloepiphyseal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0032724 MONDO:0006025 False spondyloepimetaphyseal dysplasia with joint laxity, type 3 autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0032728 MONDO:0018993 False Charcot-Marie-Tooth disease, axonal, type 2EE Charcot-Marie-Tooth disease type 2 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0032733 MONDO:0003847 False global developmental delay, progressive ataxia, and elevated glutamine hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0032736 MONDO:0003847 False metabolic crises, recurrent, with variable encephalomyopathic features and neurologic regression hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0032737 MONDO:0019064 False spastic paraplegia 80, autosomal dominant hereditary spastic paraplegia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS MONDO:0032738 MONDO:0003847 False gonadal dysgenesis, dysmorphic facies, retinal dystrophy, and myopathy hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0032741 MONDO:0100500 False neurodevelopmental disorder with impaired speech and hyperkinetic movements Mendelian neurodevelopmental disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0032742 MONDO:0800174 False encephalopathy, acute, infection-induced, susceptibility to, 9 encephalitis, acute, infection-induced, susceptibility to UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0032745 MONDO:0003847 False developmental delay with variable intellectual impairment and behavioral abnormalities hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0032750 MONDO:0000426 False arthrogryposis, distal, type 2B2 autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0032750 MONDO:0011128 False arthrogryposis, distal, type 2B2 Sheldon-hall syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0032751 MONDO:0000426 False arthrogryposis, distal, type 2B3 autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0032751 MONDO:0011128 False arthrogryposis, distal, type 2B3 Sheldon-hall syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0032755 MONDO:0100500 False neurodevelopmental disorder with or without variable brain abnormalities; NEDBA Mendelian neurodevelopmental disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0032758 MONDO:0003847 False neurodegeneration, early-onset, with choreoathetoid movements and microcytic anemia hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0032759 MONDO:0003847 False intellectual developmental disorder with short stature and variable skeletal anomalies hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0032760 MONDO:0003847 False developmental delay with or without dysmorphic facies and autism hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0032764 MONDO:0003847 False Khan-Khan-Katsanis syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0032766 MONDO:0003847 False hypoalphalipoproteinemia, primary, 2 hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0032770 MONDO:0700120 False intellectual developmental disorder with severe speech and ambulation defects BAFopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0032772 MONDO:0003847 False brain abnormalities, neurodegeneration, and dysosteosclerosis hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0032773 MONDO:0019052 False uridine-cytidineuria inborn errors of metabolism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -31211,10 +30839,12 @@ MONDO:0032790 MONDO:0100500 False neurodevelopmental disorder with coarse facies MONDO:0032792 MONDO:0019551 False neuropathy, hereditary motor and sensory, type VIc, with optic atrophy hereditary motor and sensory neuropathy type 6 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0032793 MONDO:0003847 False O'Donnell-Luria-Rodan syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0032795 MONDO:0015802 False intellectual developmental disorder 59 autosomal dominant non-syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0032797 MONDO:0019952 False myopathy, congenital, with tremor congenital myopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS MONDO:0032798 MONDO:0003847 False ichthyotic keratoderma, spasticity, hypomyelination, and dysmorphic facial features hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0032805 MONDO:0003847 False hypopigmentation, organomegaly, and delayed myelination and development hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0032807 MONDO:0100500 False neurodevelopmental disorder with visual defects and brain anomalies Mendelian neurodevelopmental disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0032808 MONDO:0002320 False developmental and epileptic encephalopathy, 77 congenital nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0032808 MONDO:0002525 False developmental and epileptic encephalopathy, 77 inherited lipid metabolism disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0032808 MONDO:0015286 False developmental and epileptic encephalopathy, 77 congenital disorder of glycosylation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0032808 MONDO:0015327 False developmental and epileptic encephalopathy, 77 developmental anomaly of metabolic origin UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0032808 MONDO:0024321 False developmental and epileptic encephalopathy, 77 disorder of GPI anchor biosynthesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -31226,7 +30856,9 @@ MONDO:0032814 MONDO:0011057 False microangiopathy and leukoencephalopathy, ponti MONDO:0032816 MONDO:0100500 False neurodevelopmental disorder with ataxia, hypotonia, and microcephaly Mendelian neurodevelopmental disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0032817 MONDO:0100500 False neurodevelopmental disorder with cataracts, poor growth, and dysmorphic facies Mendelian neurodevelopmental disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0032818 MONDO:0100500 False neurodevelopmental disorder with cerebellar hypoplasia and spasticity Mendelian neurodevelopmental disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0032819 MONDO:0016410 False hypothyroidism, congenital, nongoitrous, 7 central congenital hypothyroidism UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0032820 MONDO:0100500 False neurodevelopmental disorder with structural brain anomalies and dysmorphic facies Mendelian neurodevelopmental disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0032821 MONDO:0019952 False myopathy, congenital, progressive, with scoliosis congenital myopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS MONDO:0032822 MONDO:0002320 False developmental and epileptic encephalopathy, 80 congenital nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0032822 MONDO:0002525 False developmental and epileptic encephalopathy, 80 inherited lipid metabolism disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0032822 MONDO:0015286 False developmental and epileptic encephalopathy, 80 congenital disorder of glycosylation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS @@ -31239,23 +30871,29 @@ MONDO:0032829 MONDO:0100500 False neurodevelopmental disorder with hypotonia and MONDO:0032830 MONDO:0003847 False snijders blok-fisher syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0032832 MONDO:0003847 False intellectual developmental disorder with nasal speech, dysmorphic facies, and variable skeletal anomalies hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0032833 MONDO:0003847 False lower urinary tract obstruction, congenital hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0032835 MONDO:0016761 False spondyloepiphyseal dysplasia, nishimura type spondyloepiphyseal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0032836 MONDO:0003847 False weiss-kruszka syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0032838 MONDO:0100500 False neurodevelopmental disorder with microcephaly, arthrogryposis, and structural brain anomalies Mendelian neurodevelopmental disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0032841 MONDO:0003847 False Usher syndrome, type 1M hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0032842 MONDO:0003847 False Siddiqi syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0032843 MONDO:0003847 False oculopharyngeal myopathy with leukoencephalopathy 1 hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0032849 MONDO:0100500 False neurodevelopmental disorder with spastic quadriplegia, optic atrophy, seizures, and structural brain anomalies Mendelian neurodevelopmental disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0032850 MONDO:0003847 False neurooculocardiogenitourinary syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0032851 MONDO:0003847 False intellectual developmental disorder with impaired language and dysmorphic facies hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0032852 MONDO:0019952 False myopathy, congenital, with structured cores and z-line abnormalities congenital myopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS MONDO:0032853 MONDO:0003847 False myopathy, distal, 6, adult-onset, autosomal dominant hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0032855 MONDO:0100500 False neurodevelopmental disorder with dysmorphic facies and distal skeletal anomalies Mendelian neurodevelopmental disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0032862 MONDO:0003847 False hydrocephalus, congenital communicating, 1 hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0032864 MONDO:0003847 False intellectual developmental disorder with speech delay, autism, and dysmorphic facies hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0032867 MONDO:0020573 False pancreatic cancer, susceptibility to, 5 inherited disease susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0032867 MONDO:0015356 False pancreatic cancer, susceptibility to, 5 hereditary neoplastic syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0032868 MONDO:0003847 False lessel-kubisch syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0032870 MONDO:0003847 False intellectual developmental disorder with short stature and behavioral abnormalities hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0032873 MONDO:0100452 False retinitis pigmentosa 87 with choroidal involvement RPE65-related dominant retinopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0032875 MONDO:0003847 False short stature and microcephaly with genital anomalies hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0032876 MONDO:0100500 False neurodevelopmental disorder with absent language and variable seizures Mendelian neurodevelopmental disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0032877 MONDO:0100500 False neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures Mendelian neurodevelopmental disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0032878 MONDO:0100500 False neurodevelopmental disorder with behavioral abnormalities, absent speech, and hypotonia Mendelian neurodevelopmental disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0032879 MONDO:0003847 False megabladder, congenital hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0032882 MONDO:0003847 False Heyn-Sproul-Jackson syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0032883 MONDO:0003847 False intellectual developmental disorder with behavioral abnormalities and craniofacial dysmorphism with or without seizures hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0032884 MONDO:0003847 False ectodermal dysplasia with facial dysmorphism and acral, ocular, and brain anomalies hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -31279,6 +30917,7 @@ MONDO:0032920 MONDO:0003847 False juvenile arthritis due to defect in LACC1 here MONDO:0032921 MONDO:0100500 False neurodevelopmental disorder with hypotonia, neonatal respiratory insufficiency, and thermodysregulation Mendelian neurodevelopmental disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0032922 MONDO:0003847 False Beck-Fahrner syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0032925 MONDO:0003847 False respiratory papillomatosis, juvenile recurrent, congenital hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0032926 MONDO:0003847 False sandestig-stefanova syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0032927 MONDO:0003847 False triokinase and FMN cyclase deficiency syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0032928 MONDO:0003847 False T-cell lymphopenia, infantile, with or without nail dystrophy, autosomal dominant hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0032930 MONDO:0003847 False intellectual developmental disorder with poor growth and with or without seizures or ataxia hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -31287,34 +30926,53 @@ MONDO:0032933 MONDO:0003847 False chromosome 1p36.33 duplication syndrome, atad3 MONDO:0032933 MONDO:0017012 False chromosome 1p36.33 duplication syndrome, atad3 gene cluster, autosomal dominant partial duplication of the short arm of chromosome 1 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0032934 MONDO:0003847 False genitourinary and/or brain malformation syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0032935 MONDO:0003847 False rhizomelic limb shortening with dysmorphic features hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0032936 MONDO:0019952 False myopathy, congenital, with respiratory insufficiency and bone fractures congenital myopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS +MONDO:0032937 MONDO:0019952 False myopathy, congenital proximal, with minicore lesions congenital myopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS MONDO:0032938 MONDO:0700007 False basal ganglia calcification, idiopathic, 8, autosomal recessive idiopathic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0032939 MONDO:0015802 False intellectual developmental disorder, autosomal dominant 63, with macrocephaly autosomal dominant non-syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0032942 MONDO:0100500 False neurodevelopmental disorder with microcephaly and dysmorphic facies Mendelian neurodevelopmental disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0032943 MONDO:0100500 False neurodevelopmental disorder with relative macrocephaly and with or without cardiac or endocrine anomalies Mendelian neurodevelopmental disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0033004 MONDO:0009889 False polycystic kidney disease 4 autosomal recessive polycystic kidney disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0033043 MONDO:0017847 False spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy autosomal recessive spastic ataxia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0033043 MONDO:0019046 False spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy leukodystrophy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS +MONDO:0033135 MONDO:0000426 False Charcot-Marie-Tooth disease, demyelinating, type 1G autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0033169 MONDO:0029000 False curariform drugs toxicity poisoning UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0033170 MONDO:0029000 False statin toxicity poisoning UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0033181 MONDO:0029000 False phenytoin or carbamazepine toxicity poisoning UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0033203 MONDO:0015905 False nephrotic syndrome 14 syndromic dyslipidemia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0033203 MONDO:0018117 False nephrotic syndrome 14 disorder of phospholipids, sphingolipids and fatty acids biosynthesis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0033203 MONDO:0044765 False nephrotic syndrome 14 steroid-resistant nephrotic syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0033281 MONDO:0009889 False polycystic kidney disease 5 autosomal recessive polycystic kidney disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0033304 MONDO:0000428 False nonsyndromic deafness, Y-linked Y-linked disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0033304 MONDO:0019497 False nonsyndromic deafness, Y-linked nonsyndromic genetic hearing loss UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0033312 MONDO:0005090 False schizophrenia 19 schizophrenia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS MONDO:0033352 MONDO:0002320 False neuropathy, congenital hypomelinating congenital nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0033352 MONDO:0020127 False neuropathy, congenital hypomelinating hereditary peripheral neuropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0033364 MONDO:0002320 False developmental and epileptic encephalopathy, 55 congenital nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0033364 MONDO:0002525 False developmental and epileptic encephalopathy, 55 inherited lipid metabolism disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0033364 MONDO:0015286 False developmental and epileptic encephalopathy, 55 congenital disorder of glycosylation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0033364 MONDO:0024321 False developmental and epileptic encephalopathy, 55 disorder of GPI anchor biosynthesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0033480 MONDO:0019793 False spinocerebellar ataxia 45 autosomal dominant cerebellar ataxia type III UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0033481 MONDO:0019792 False spinocerebellar ataxia 46 autosomal dominant cerebellar ataxia type I UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0033492 MONDO:0015802 False Coffin-Siris syndrome 6 autosomal dominant non-syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0033492 MONDO:0700120 False Coffin-Siris syndrome 6 BAFopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0033532 MONDO:0003847 False Suleiman-El-Hattab syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0033543 MONDO:0003847 False cone-rod synaptic disorder syndrome, congenital nonprogressive hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0033544 MONDO:0003847 False Tolchin-Le Caignec syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0033546 MONDO:0003847 False neurodegeneration, infantile-onset, biotin-responsive hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0033547 MONDO:0003847 False Li-Ghorbani-Weisz-Hubshman syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0033548 MONDO:0019952 False myopathy, congenital, with diaphragmatic defects, respiratory insufficiency, and dysmorphic facies congenital myopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS MONDO:0033554 MONDO:0017855 False immunodeficiency 73b with defective neutrophil chemotaxis and lymphopenia T-B- severe combined immunodeficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0033555 MONDO:0017855 False immunodeficiency 73c with defective neutrophil chemotaxis and hypogammaglobulinemia T-B- severe combined immunodeficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0033556 MONDO:0013049 False muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type B, 15 DPM3-congenital disorder of glycosylation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0033557 MONDO:0015541 False hemophagocytic lymphohistiocytosis, familial, 6 hereditary hemophagocytic lymphohistiocytosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0033558 MONDO:0003847 False autoinflammation, immune dysregulation, and eosinophilia hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0033559 MONDO:0003847 False intellectual developmental disorder with seizures and language delay hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0033560 MONDO:0003847 False mitochondrial complex 1 deficiency, nuclear type 35 hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0033561 MONDO:0003847 False deeah syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0033562 MONDO:0100500 False neurodevelopmental disorder with dysmorphic facies, impaired speech, and hypotonia Mendelian neurodevelopmental disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0033569 MONDO:0003847 False combined oxidative phosphorylation deficiency 49 hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0033570 MONDO:0003847 False combined oxidative phosphorylation deficiency 50 hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0033572 MONDO:0003847 False intellectual developmental disorder with epilepsy, behavioral abnormalities, and coarse facies hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0033613 MONDO:0016215 False neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities spastic quadriplegic cerebral palsy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0033613 MONDO:0100500 False neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities Mendelian neurodevelopmental disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -31335,21 +30993,36 @@ MONDO:0033667 MONDO:0003847 False Delpire-McNeill syndrome hereditary disease UN MONDO:0033672 MONDO:0002254 False Duane anomaly-myopathy-scoliosis syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0033672 MONDO:0005381 False Duane anomaly-myopathy-scoliosis syndrome bone disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0033672 MONDO:0006025 False Duane anomaly-myopathy-scoliosis syndrome autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0033682 MONDO:0015159 False skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0033682 MONDO:0015708 False skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome immuno-osseous dysplasia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0033682 MONDO:0019694 False skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome spondylodysplastic dysplasia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0033683 MONDO:0009332 False congenital progressive bone marrow failure-B-cell immunodeficiency-skeletal dysplasia syndrome congenital hematological disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0033683 MONDO:0015159 False congenital progressive bone marrow failure-B-cell immunodeficiency-skeletal dysplasia syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0033683 MONDO:0015708 False congenital progressive bone marrow failure-B-cell immunodeficiency-skeletal dysplasia syndrome immuno-osseous dysplasia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0033683 MONDO:0018234 False congenital progressive bone marrow failure-B-cell immunodeficiency-skeletal dysplasia syndrome dysostosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0033683 MONDO:0019054 False congenital progressive bone marrow failure-B-cell immunodeficiency-skeletal dysplasia syndrome congenital limb malformation UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0033683 MONDO:0019453 False congenital progressive bone marrow failure-B-cell immunodeficiency-skeletal dysplasia syndrome myelodysplastic syndrome with multilineage dysplasia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0033717 MONDO:0020043 False congenital cerebellar ataxia due to RNU12 mutation autosomal recessive congenital cerebellar ataxia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0033809 MONDO:0005328 False isolated blepharochalasis eye disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0033810 MONDO:0019503 False isolated iridoschisis anterior segment dysgenesis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0033816 MONDO:0000942 False thygeson superficial punctate keratopathy corneal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0033818 MONDO:0000942 False Terrien marginal degeneration corneal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0033821 MONDO:0020944 False fungal keratitis fungal infection of eye UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0033821 MONDO:0023865 False fungal keratitis corneal infection UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0033838 MONDO:0015923 False radiation-induced plexopathy acquired peripheral neuropathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0033838 MONDO:0024432 False radiation-induced plexopathy nerve plexus disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0033838 MONDO:0043459 False radiation-induced plexopathy radiation-induced disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0033839 MONDO:0006858 False osteoradionecrosis of the mandible mouth disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0033839 MONDO:0023369 False osteoradionecrosis of the mandible disorder of facial skeleton UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0033839 MONDO:0043735 False osteoradionecrosis of the mandible osteoradionecrosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0033850 MONDO:0006025 False autosomal recessive axonal charcot-marie-tooth disease due to copper metabolism defect autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0033850 MONDO:0017762 False autosomal recessive axonal charcot-marie-tooth disease due to copper metabolism defect disorder of copper metabolism UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0033853 MONDO:0002254 False congenital cataract-severe neonatal hepatopathy-global developmental delay syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0033853 MONDO:0003847 False congenital cataract-severe neonatal hepatopathy-global developmental delay syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0033856 MONDO:0000426 False LAMA5-related multisystemic syndrome autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0033856 MONDO:0005554 False LAMA5-related multisystemic syndrome rheumatic disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0033856 MONDO:0023603 False LAMA5-related multisystemic syndrome hereditary disorder of connective tissue UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0033862 MONDO:0019787 False primary autoimmune enteropathy autoimmune enteropathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0033864 MONDO:0002254 False infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0033864 MONDO:0003847 False infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0033864 MONDO:0005395 False infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome movement disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -31359,24 +31032,44 @@ MONDO:0033926 MONDO:0005071 False prepubertal anorexia nervosa nervous system di MONDO:0033926 MONDO:0005351 False prepubertal anorexia nervosa anorexia nervosa UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0033938 MONDO:0002254 False acute radiation syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0033938 MONDO:0020683 False acute radiation syndrome acute disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0033954 MONDO:0002254 False monoclonal mast cell activation syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0033954 MONDO:0005046 False monoclonal mast cell activation syndrome immune system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0033946 MONDO:0027749 False hereditary angioedema with C1Inh deficiency serpinopathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0033948 MONDO:0019624 False acquired angioedema with C1Inh deficiency acquired angioedema UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0033954 MONDO:0005570 False monoclonal mast cell activation syndrome hematologic disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0033968 MONDO:0003778 False immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections-lymphopenia syndrome inborn error of immunity UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0033968 MONDO:0006025 False immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections-lymphopenia syndrome autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0033969 MONDO:0003778 False inflammatory bowel disease-recurrent sinopulmonary infections syndrome inborn error of immunity UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0033980 MONDO:0003266 False RELA fusion-positive ependymoma ependymal tumor UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0034021 MONDO:0020066 False spondylodysplastic Ehlers-Danlos syndrome Ehlers-Danlos syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0034041 MONDO:0002320 False congenital axonal neuropathy with encephalopathy congenital nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0034041 MONDO:0004183 False congenital axonal neuropathy with encephalopathy axonal neuropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0034054 MONDO:0015974 False severe combined immunodeficiency due to CD70 deficiency severe combined immunodeficiency UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0034092 MONDO:0006025 False optic atrophy-ataxia-peripheral neuropathy-global developmental delay syndrome autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0034092 MONDO:0020127 False optic atrophy-ataxia-peripheral neuropathy-global developmental delay syndrome hereditary peripheral neuropathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0034092 MONDO:0044970 False optic atrophy-ataxia-peripheral neuropathy-global developmental delay syndrome mitochondrial disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0034099 MONDO:0015653 False SYNGAP1-related developmental and epileptic encephalopathy monogenic epilepsy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0034099 MONDO:0020071 False SYNGAP1-related developmental and epileptic encephalopathy infantile epilepsy syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0034103 MONDO:0001549 False infection-related hemolytic uremic syndrome hemolytic-uremic syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0034103 MONDO:0021669 False infection-related hemolytic uremic syndrome post-infectious disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0034106 MONDO:0002320 False developmental and epileptic encephalopathy, 73 congenital nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0034106 MONDO:0015159 False developmental and epileptic encephalopathy, 73 multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0034109 MONDO:0006025 False congenital myopathy with reduced type 2 muscle fibers autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0034109 MONDO:0019952 False congenital myopathy with reduced type 2 muscle fibers congenital myopathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS MONDO:0034110 MONDO:0005240 False atypical Fanconi syndrome-neonatal hyperinsulinism syndrome kidney disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0034121 MONDO:0006025 False NAD(P)HX dehydratase deficiency autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0034121 MONDO:0019052 False NAD(P)HX dehydratase deficiency inborn errors of metabolism UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0034127 MONDO:0019337 False IgA pemphigus autoimmune bullous skin disease UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0034142 MONDO:0015159 False pancreatic agenesis-holoprosencephaly syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0034143 MONDO:0017198 False early-onset calcifying leukoencephalopathy-skeletal dysplasia osteopetrosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0034143 MONDO:0019046 False early-onset calcifying leukoencephalopathy-skeletal dysplasia leukodystrophy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0034145 MONDO:0002254 False oculocerebrodental syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0034145 MONDO:0005308 False oculocerebrodental syndrome ciliopathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0034145 MONDO:0015159 False oculocerebrodental syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0034146 MONDO:0017847 False spastic ataxia-dysarthria due to glutaminase deficiency autosomal recessive spastic ataxia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0034146 MONDO:0600001 False spastic ataxia-dysarthria due to glutaminase deficiency glutaminase deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0034150 MONDO:0006769 False idiopathic gastroparesis gastroparesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0034150 MONDO:0700007 False idiopathic gastroparesis idiopathic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0034186 MONDO:0006025 False autosomal recessive extra-oral halitosis autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0034186 MONDO:0019222 False autosomal recessive extra-oral halitosis inborn disorder of methionine cycle and sulfur amino acid metabolism UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0034189 MONDO:0004789 False primary biliary cholangitis/primary sclerosing cholangitis and autoimmune hepatitis overlap syndrome cholangitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0034189 MONDO:0016264 False primary biliary cholangitis/primary sclerosing cholangitis and autoimmune hepatitis overlap syndrome autoimmune hepatitis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0034204 MONDO:0002254 False syndromic congenital sodium diarrhea syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -31392,11 +31085,13 @@ MONDO:0034823 MONDO:0003847 False oral-facial-digital syndrome with short statur MONDO:0034846 MONDO:0005020 False primary desmosis coli intestinal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0034895 MONDO:0002254 False congenital brachyesophagus-intrathoracic stomach-vertebral anomalies syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0034971 MONDO:0020159 False isolated congenital entropion congenital entropion UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0034976 MONDO:0018686 False iatrogenic Creutzfeldt-Jakob disease acquired Creutzfeldt-Jakob disease UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0034976 MONDO:0043544 False iatrogenic Creutzfeldt-Jakob disease nosocomial infection UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0034978 MONDO:0005283 False isolated foveal hypoplasia retinal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0034987 MONDO:0021040 False intraductal tubulopapillary neoplasm of pancreas pancreatic neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0034989 MONDO:0002254 False intellectual disability-cardiac anomalies-short stature-joint laxity syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0034991 MONDO:0002254 False intrauterine growth restriction-congenital multiple café-au-lait macules-increased sister chromatid exchange syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0035004 MONDO:0018162 False serine biosynthesis pathway deficiency, infantile/juvenile form neurometabolic disorder due to serine deficiency UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0035008 MONDO:0000831 False isolated splenic vein thrombosis thrombotic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0035008 MONDO:0004634 False isolated splenic vein thrombosis vein disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0035009 MONDO:0000831 False isolated mesenteric vein thrombosis thrombotic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -31407,33 +31102,67 @@ MONDO:0035027 MONDO:0002254 False microcephaly-facial dysmorphism-ocular anomali MONDO:0035027 MONDO:0003847 False microcephaly-facial dysmorphism-ocular anomalies-multiple congenital anomalies syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0035105 MONDO:0002254 False diaphragmatic hernia-short bowel-asplenia syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0035105 MONDO:0003847 False diaphragmatic hernia-short bowel-asplenia syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0035117 MONDO:0015653 False PUM1-associated developmental disability-ataxia-seizure syndrome monogenic epilepsy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0035117 MONDO:0019792 False PUM1-associated developmental disability-ataxia-seizure syndrome autosomal dominant cerebellar ataxia type I UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0035122 MONDO:0002254 False GRIN2B-related developmental delay, intellectual disability and autism spectrum disorder syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0035124 MONDO:0019287 False linear hypopigmentation and craniofacial asymmetry with acral, ocular and brain anomalies ectodermal dysplasia syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0035124 MONDO:0019290 False linear hypopigmentation and craniofacial asymmetry with acral, ocular and brain anomalies hypopigmentation of the skin UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0035133 MONDO:0002320 False PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome congenital nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0035133 MONDO:0003847 False PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0035133 MONDO:0015159 False PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0035136 MONDO:0002217 False isolated melanotic schwannoma central nervous system sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0035136 MONDO:0002558 False isolated melanotic schwannoma melanotic neurilemmoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0035136 MONDO:0021089 False isolated melanotic schwannoma peripheral nervous system cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0035136 MONDO:0100342 False isolated melanotic schwannoma malignant glioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0035149 MONDO:0016028 False secondary erythromelalgia erythromelalgia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0035151 MONDO:0016915 False 17q24.2 microdeletion syndrome partial deletion of the long arm of chromosome 17 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0035153 MONDO:0005372 False male infertility due to acephalic spermatozoa male infertility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0035159 MONDO:0005070 False dermoid or epidermoid cyst of the central nervous system neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0035161 MONDO:0015547 False progressive dementia with neuroserpin inclusion bodies hereditary dementia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0035173 MONDO:0016874 False 9q21.13 microdeletion syndrome partial deletion of chromosome 9 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0035220 MONDO:0019623 False PLG-related hereditary angioedema with normal C1inh hereditary angioedema UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0035235 MONDO:0018824 False classic pyoderma gangrenosum pyoderma gangrenosum UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0035236 MONDO:0018824 False pustular pyoderma gangrenosum pyoderma gangrenosum UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0035237 MONDO:0018824 False bullous pyoderma gangrenosum pyoderma gangrenosum UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0035238 MONDO:0018824 False vegetative pyoderma gangrenosum pyoderma gangrenosum UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0035290 MONDO:0016244 False atypical hemolytic uremic syndrome with complement gene abnormality atypical hemolytic-uremic syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0035293 MONDO:0034103 False streptococcus pneumoniae-associated hemolytic uremic syndrome infection-related hemolytic uremic syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0035295 MONDO:0018960 False congenital primary megaureter, refluxing and obstructed form congenital primary megaureter UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0035312 MONDO:0024477 False fibrohistiocytic inflammatory pseudotumor of the liver liver and intrahepatic bile duct neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0035313 MONDO:0024477 False lymphoplasmacytic inflammatory pseudotumor of the liver liver and intrahepatic bile duct neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0035320 MONDO:0003847 False early-onset familial hypoaldosteronism hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0035320 MONDO:0018541 False early-onset familial hypoaldosteronism familial hypoaldosteronism UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0035321 MONDO:0018541 False late-onset familial hypoaldosteronism familial hypoaldosteronism UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0035337 MONDO:0007473 False Duane retraction syndrome with congenital deafness Duane retraction syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0035344 MONDO:0005560 False acute bilirubin encephalopathy brain disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0035344 MONDO:0020683 False acute bilirubin encephalopathy acute disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0035345 MONDO:0005560 False chronic bilirubin encephalopathy brain disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0035349 MONDO:0006543 False localized dystrophic epidermolysis bullosa epidermolysis bullosa dystrophica UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0035350 MONDO:0029000 False letrozole toxicity poisoning UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0035357 MONDO:0002405 False portosinusoidal vascular disease hepatic vascular disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0035362 MONDO:0005265 False TRIM22-related inflammatory bowel disease inflammatory bowel disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0035370 MONDO:0005265 False ALPI-related inflammatory bowel disease inflammatory bowel disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0035375 MONDO:0100320 False multisystem inflammatory syndrome in children and adults post-COVID-19 disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0035383 MONDO:0005071 False FOXG1 syndrome nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0035400 MONDO:0016264 False seronegative autoimmune hepatitis autoimmune hepatitis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0035401 MONDO:0000819 False isolated anencephaly anencephaly UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0035402 MONDO:0002320 False isolated exencephaly congenital nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0035403 MONDO:0016092 False serous cystadenoma of childhood serous or mucinous cystadenoma of childhood UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0035404 MONDO:0016092 False mucinous cystadenoma of childhood serous or mucinous cystadenoma of childhood UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0035405 MONDO:0016092 False seromucinous cystadenoma of childhood serous or mucinous cystadenoma of childhood UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0035406 MONDO:0018941 False furuncular myiasis due to Dermatobia hominis furuncular myiasis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0035407 MONDO:0018941 False furuncular myiasis due to Cordylobia anthropophaga furuncular myiasis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0035408 MONDO:0018941 False furuncular myiasis due to Cordylobia rodhaini furuncular myiasis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0035410 MONDO:0013003 False isolated congenital aglossia isolated congenital hypoglossia/aglossia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0035411 MONDO:0013003 False isolated congenital hypoglossia isolated congenital hypoglossia/aglossia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0035423 MONDO:0015611 False triglyceride deposit cardiomyovasculopathy neutral lipid storage disease UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0035432 MONDO:0016971 False POMGNT2-related limb-girdle muscular dystrophy R24 limb-girdle muscular dystrophy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0035433 MONDO:0016971 False calpain-3-related limb-girdle muscular dystrophy D4 limb-girdle muscular dystrophy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0035437 MONDO:0019751 False CEBPE-associated autoinflammation-immunodeficiency-neutrophil dysfunction syndrome autoinflammatory syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0035441 MONDO:0100241 False congenital autosomal recessive small-platelet thrombocytopenia inherited thrombocytopenia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0035444 MONDO:0007950 False acute mast cell leukemia mastocytosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0035444 MONDO:0020683 False acute mast cell leukemia acute disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0035445 MONDO:0007950 False chronic mast cell leukemia mastocytosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0035447 MONDO:0024477 False liver adenomatosis liver and intrahepatic bile duct neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0035449 MONDO:0005560 False atelencephaly brain disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0035449 MONDO:0021147 False atelencephaly disorder of development or morphogenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -31443,41 +31172,68 @@ MONDO:0035452 MONDO:0005381 False mueller-weiss syndrome bone disorder UNSUPPORT MONDO:0035454 MONDO:0002254 False B-cell immunodeficiency-limb anomaly-urogenital malformation syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0035454 MONDO:0003847 False B-cell immunodeficiency-limb anomaly-urogenital malformation syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0035459 MONDO:0002350 False idiopathic multidrug-resistant nephrotic syndrome familial nephrotic syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0035459 MONDO:0018170 False idiopathic multidrug-resistant nephrotic syndrome idiopathic nephrotic syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0035460 MONDO:0018170 False idiopathic steroid-resistant nephrotic syndrome with sensitivity to second-line immunosuppressive therapy idiopathic nephrotic syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0035472 MONDO:0019175 False GJC2-related late-onset primary lymphedema primary lymphedema UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0035473 MONDO:0002254 False warts-immunodeficiency-lymphedema-anogenital dysplasia syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0035473 MONDO:0019175 False warts-immunodeficiency-lymphedema-anogenital dysplasia syndrome primary lymphedema UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0035474 MONDO:0019175 False PIEZO1-related generalized lymphatic dysplasia with non-immune hydrops fetalis primary lymphedema UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0035475 MONDO:0019175 False EPHB4-related lymphatic-related hydrops fetalis primary lymphedema UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0035499 MONDO:0019175 False CELSR1-related late-onset primary lymphedema primary lymphedema UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0035500 MONDO:0019313 False congenital primary lymphedema of Gordon lymphatic malformation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0035511 MONDO:0029000 False ricin poisoning poisoning UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0035521 MONDO:0016868 False blepharophimosis-ptosis-epicanthus inversus syndrome plus partial deletion of chromosome 3 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0035524 MONDO:0007201 False blepharophimosis-ptosis-epicanthus inversus syndrome type 1 blepharophimosis, ptosis, and epicanthus inversus syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0035525 MONDO:0007201 False blepharophimosis-ptosis-epicanthus inversus syndrome type 2 blepharophimosis, ptosis, and epicanthus inversus syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0035529 MONDO:0003847 False infantile-onset pulmonary alveolar proteinosis-hypogammaglobulinemia hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0035529 MONDO:0005087 False infantile-onset pulmonary alveolar proteinosis-hypogammaglobulinemia respiratory system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0035534 MONDO:0003847 False DONSON-related microcephaly-short stature-limb abnormalities spectrum hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0035540 MONDO:0021227 False pheochromocytoma-paraganglioma adrenal gland neoplasm UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0035547 MONDO:0020573 False predisposition to severe viral infection due to IRF7 deficiency inherited disease susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0035548 MONDO:0020573 False autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial jak1 deficiency inherited disease susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0035551 MONDO:0003847 False cathepsin a-related arteriopathy-strokes-leukoencephalopathy hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0035551 MONDO:0011057 False cathepsin a-related arteriopathy-strokes-leukoencephalopathy cerebrovascular disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0035562 MONDO:0018926 False acquired human prion disease human prion disease UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0035584 MONDO:0005328 False punctate inner choroidopathy eye disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0035586 MONDO:0002254 False Cramp-fasciculation syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0035592 MONDO:0006574 False congenital infiltrating lipomatosis of the face lipomatosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0035614 MONDO:0005429 False sporadic fatal insomnia prion disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0035614 MONDO:0018926 False sporadic fatal insomnia human prion disease UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0035614 MONDO:0024237 False sporadic fatal insomnia inherited neurodegenerative disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0035639 MONDO:0017893 False mixed phenotype acute leukemia with t(9;22)(q34.1;q11.2) inherited acute myeloid leukemia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0035639 MONDO:0020743 False mixed phenotype acute leukemia with t(9;22)(q34.1;q11.2) mixed phenotype acute leukemia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0035642 MONDO:0017893 False mixed phenotype acute leukemia with t(v;11q23.3) inherited acute myeloid leukemia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0035646 MONDO:0008056 False congenital-onset Steinert myotonic dystrophy myotonic dystrophy type 1 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0035647 MONDO:0016107 False childhood-onset Steinert myotonic dystrophy myotonic dystrophy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0035648 MONDO:0016107 False juvenile-onset Steinert myotonic dystrophy myotonic dystrophy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0035649 MONDO:0016107 False adult-onset Steinert myotonic dystrophy myotonic dystrophy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0035650 MONDO:0016107 False late-onset Steinert myotonic dystrophy myotonic dystrophy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0035651 MONDO:0002254 False choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0035651 MONDO:0003847 False choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0035660 MONDO:0003847 False GNAO1-related developmental delay-seizures-movement disorder spectrum hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0035661 MONDO:0002254 False TRAF7-associated heart defect-digital anomalies-facial dysmorphism-motor and speech delay syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0035661 MONDO:0003847 False TRAF7-associated heart defect-digital anomalies-facial dysmorphism-motor and speech delay syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0035663 MONDO:0019100 False neuromyelitis optica spectrum disorder with anti-AQP4 antibodies neuromyelitis optica UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0035664 MONDO:0019100 False neuromyelitis optica spectrum disorder with anti-MOG antibodies neuromyelitis optica UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0035665 MONDO:0019100 False neuromyelitis optica spectrum disorder without anti-MOG and without anti-AQP4 antibodies neuromyelitis optica UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0035666 MONDO:0015342 False acute transverse myelitis with anti-MOG antibodies acute transverse myelitis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0035667 MONDO:0044688 False isolated optic neuritis without anti-MOG antibodies isolated optic neuritis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0035668 MONDO:0044688 False isolated optic neuritis with anti-MOG antibodies isolated optic neuritis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0035669 MONDO:0019383 False acute disseminated encephalomyelitis with anti-MOG antibodies acute disseminated encephalomyelitis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0035670 MONDO:0019383 False acute disseminated encephalomyelitis without anti-MOG antibodies acute disseminated encephalomyelitis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0035678 MONDO:0021171 False Timothy syndrome type 1 Timothy syndrome, classic type UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0035679 MONDO:0021171 False Timothy syndrome type 2 Timothy syndrome, classic type UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0035706 MONDO:0002254 False SETD2-related microcephaly-severe intellectual disability-multiple congenital anomalies syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0035694 MONDO:0015131 False combined immunodeficiency due to RELA haploinsufficiency combined immunodeficiency UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0035696 MONDO:0035357 False incomplete septal cirrhosis portosinusoidal vascular disease UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0035706 MONDO:0000508 False SETD2-related microcephaly-severe intellectual disability-multiple congenital anomalies syndrome syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0035706 MONDO:0800477 False SETD2-related microcephaly-severe intellectual disability-multiple congenital anomalies syndrome SETD2-related neurodevelopmental disorder without or with macrocephaly/overgrowth UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0035707 MONDO:0002254 False blepharophimosis-intellectual disability syndrome/genitopatellar overlap syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0035713 MONDO:0100040 False FOXG1 syndrome due to intragenic alteration FOXG1 disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0035734 MONDO:0019623 False hereditary angioedema with normal C1inh not related to F12 or PLG variant hereditary angioedema UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0035735 MONDO:0019139 False acquired hemophilia A acquired hemophilia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0035736 MONDO:0019139 False acquired hemophilia B acquired hemophilia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0035737 MONDO:0020586 False acquired factor V deficiency factor V deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0035737 MONDO:0020599 False acquired factor V deficiency acquired coagulation factor deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0035738 MONDO:0002244 False acquired factor VII deficiency factor VII deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0035738 MONDO:0020599 False acquired factor VII deficiency acquired coagulation factor deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0035740 MONDO:0019139 False acquired factor XI deficiency acquired hemophilia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0035740 MONDO:0020587 False acquired factor XI deficiency factor XI deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0035742 MONDO:0002242 False factor V short isoforms-related bleeding disorder coagulation protein disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0035743 MONDO:0002242 False factor V amsterdam bleeding disorder coagulation protein disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0035759 MONDO:0002242 False factor V atlanta bleeding disorder coagulation protein disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -31488,17 +31244,24 @@ MONDO:0035775 MONDO:0002254 False CCNK-related neurodevelopmental disorder-sever MONDO:0035775 MONDO:0003847 False CCNK-related neurodevelopmental disorder-severe intellectual disability-facial dysmorphism syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0035776 MONDO:0002242 False combined deficiency of factor VII and factor X coagulation protein disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0035777 MONDO:0001751 False parenteral nutrition-associated cholestasis cholestasis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0035782 MONDO:0019938 False non-syndromic anorectal malformation with rectourethral fistula, bulbar type anorectal malformation UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0035783 MONDO:0019938 False non-syndromic anorectal malformation with rectourethral fistula, prostatic type anorectal malformation UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0035819 MONDO:0002254 False cerebellar hypoplasia-intellectual disability-congenital microcephaly-dystonia-anemia-growth retardation syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0035821 MONDO:0005345 False isolated female hypospadias hypospadias UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0035823 MONDO:0002254 False KLHL7-related Bohring-Opitz-like syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0035823 MONDO:0003847 False KLHL7-related Bohring-Opitz-like syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0035824 MONDO:0002254 False KLHL7-related cold-induced sweating-like syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0035826 MONDO:0010683 False symptomatic form of X-linked centronuclear myopathy in female carriers X-linked myotubular myopathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0035838 MONDO:0015564 False idiopathic multicentric Castleman disease Castleman disease UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0035875 MONDO:0029000 False ivermectin toxicity poisoning UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0035876 MONDO:0029000 False belinostat toxicity or dose selection poisoning UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0035879 MONDO:0005093 False granuloma faciale skin disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0035882 MONDO:0024575 False chronic intervillositis of unknown etiology pregnancy disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0035892 MONDO:0020129 False Mills syndrome acquired motor neuron disease UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0035930 MONDO:0000179 False neu-laxova syndrome due to 3-phosphoserine phosphatase deficiency Neu-Laxova syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0036025 MONDO:0029000 False toxicity to dolutegravir poisoning UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0036042 MONDO:0002254 False KAT6B-related multiple congenital anomalies syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0036042 MONDO:0015159 False KAT6B-related multiple congenital anomalies syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0036045 MONDO:0005333 False euthyroid dysprealbuminemic hyperthyroxinemia hyperthyroxinemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0036189 MONDO:0002254 False oculogastrointestinal-neurodevelopmental syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0036189 MONDO:0003847 False oculogastrointestinal-neurodevelopmental syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -31506,10 +31269,15 @@ MONDO:0036193 MONDO:0003847 False parkinsonism with polyneuropathy hereditary di MONDO:0036193 MONDO:0021095 False parkinsonism with polyneuropathy parkinsonian disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0036212 MONDO:0002254 False spastic paraparesis-cataracts-speech delay syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0036212 MONDO:0003847 False spastic paraparesis-cataracts-speech delay syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0036217 MONDO:0032931 False lethal pontocerebellar hypoplasia-hypotonia-respiratory insufficiency syndrome due to a point mutation pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome, neonatal lethal UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0036218 MONDO:0032931 False lethal pontocerebellar hypoplasia-hypotonia-respiratory insufficiency syndrome due to biallelic deletions in the ATAD3 gene cluster pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome, neonatal lethal UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0036484 MONDO:0018778 False Charcot-Marie-Tooth disease, dominant intermediate G intermediate Charcot-Marie-Tooth disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0036591 MONDO:0002816 False adrenal cortex neoplasm adrenal cortex disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0036696 MONDO:0021223 False spleen neoplasm digestive system neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0036870 MONDO:0005833 False lymphatic vessel neoplasm lymphatic system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0036918 MONDO:0019268 False punctate acrokeratoderma freckle-like pigmentation epidermal disease UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0036990 MONDO:0024988 False benign Leydig cell tumor sex cord-stromal benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0037149 MONDO:0010327 False HSD10 disease, atypical type HSD10 mitochondrial disease UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0037251 MONDO:0002332 False congestive splenomegaly splenic disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0037398 MONDO:0004652 False pneumonia caused by pseudomonas aeruginosa infection bacterial pneumonia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0037398 MONDO:0040732 False pneumonia caused by pseudomonas aeruginosa infection Pseudomonas aeruginosa infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -31520,7 +31288,6 @@ MONDO:0037739 MONDO:0056804 False benign neoplasm of cauda equina benign neoplas MONDO:0037742 MONDO:0021148 False endometrioid stromal and related neoplasms female reproductive system neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0037744 MONDO:0021580 False neoplasm of retromolar area neoplasm of jaw UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0037747 MONDO:0021178 False spinal injury injury UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0037748 MONDO:0005066 False hyperlipoproteinemia metabolic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0037792 MONDO:0005066 False carbohydrate metabolism disease metabolic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0037807 MONDO:0037792 False glycerol metabolism disease carbohydrate metabolism disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0037821 MONDO:0005066 False porphyrin metabolism disease metabolic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -31528,7 +31295,6 @@ MONDO:0037829 MONDO:0005066 False purine metabolism disease metabolic disease UN MONDO:0037847 MONDO:0000812 False vertebral joint disorder vertebral column disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0037847 MONDO:0006816 False vertebral joint disorder arthropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0037858 MONDO:0000688 False inherited fatty acid metabolism disorder inborn organic aciduria UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0037858 MONDO:0002525 False inherited fatty acid metabolism disorder inherited lipid metabolism disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0037858 MONDO:0019189 False inherited fatty acid metabolism disorder inborn disorder of amino acid and other organic acid metabolism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0037870 MONDO:0037871 False valine metabolism disease amino acid metabolism disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0037871 MONDO:0045022 False amino acid metabolism disease disorder of organic acid metabolism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -31561,7 +31327,6 @@ MONDO:0040753 MONDO:0018076 False latent tuberculosis infection tuberculosis UNS MONDO:0040871 MONDO:0040870 False psychogenic polydipsia primary polydipsia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0040922 MONDO:0005822 False latent early syphilis latent syphilis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0040923 MONDO:0004497 False late latent syphilis tertiary syphilis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0040923 MONDO:0005822 False late latent syphilis latent syphilis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0040925 MONDO:0006019 False latent yaws yaws UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0040998 MONDO:0005901 False Pasteurella multocida infectious disease pasteurellosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0041052 MONDO:0021677 False postherpetic neuralgia post-infectious neuralgia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -31608,7 +31373,6 @@ MONDO:0041903 MONDO:0004277 False gonococcal infection of joint gonorrhea UNSUPP MONDO:0041903 MONDO:0004471 False gonococcal infection of joint bacterial arthritis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0041959 MONDO:0002887 False fibrosis of bile duct bile duct disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0041996 MONDO:0023305 False thallium poisoning heavy metal poisoning UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0042233 MONDO:0002026 False disseminated candidiasis candidiasis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0042233 MONDO:0045033 False disseminated candidiasis opportunistic systemic mycosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0042370 MONDO:0007023 False Yersinia enterocolitica infectious disease Yersinia infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0042433 MONDO:0000565 False mycotic endocarditis infective endocarditis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -31621,7 +31385,7 @@ MONDO:0042458 MONDO:0019444 False Trichinella spiralis infectious disease trichi MONDO:0042484 MONDO:0000256 False disseminated sporotrichosis systemic mycosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0042484 MONDO:0005968 False disseminated sporotrichosis sporotrichosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0042485 MONDO:0005550 False infective arthritis infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0042485 MONDO:0005578 False infective arthritis arthritic joint disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0042487 MONDO:0004710 False uterine cervix carcinoma in situ uterus carcinoma in situ UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0042488 MONDO:0004664 False Cestode infectious disease helminthiasis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0042490 MONDO:0008742 False neutropenia, severe congenital, 1, autosomal dominant autosomal dominant severe congenital neutropenia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0042495 MONDO:0002277 False arteriosclerotic retinopathy arteriosclerosis disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -31662,12 +31426,11 @@ MONDO:0042972 MONDO:0005373 False meningococcemia meningococcal infection UNSUPP MONDO:0042974 MONDO:0005940 False parainfluenza virus type 3 infectious disease respirovirus infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0042974 MONDO:0100197 False parainfluenza virus type 3 infectious disease parainfluenza infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0042975 MONDO:0007037 False pseudoachondroplastic dysplasia 2 Achondroplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0042976 MONDO:0024298 False vitamin B deficiency vitamin deficiency disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0042977 MONDO:0011114 False trichoepithelioma, multiple familial, 1 familial multiple trichoepithelioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0042979 MONDO:0008223 False hypokalemic periodic paralysis, type 1 hypokalemic periodic paralysis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0042980 MONDO:0007739 False Westphal disease Huntington disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0042981 MONDO:0003803 False aortic valve stenosis aortic valve disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0042981 MONDO:0021147 False aortic valve stenosis disorder of development or morphogenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0042982 MONDO:0021094 False GATA2 deficiency with susceptibility to MDS/AML immunodeficiency disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0042983 MONDO:0005071 False neurocutaneous syndrome nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0043003 MONDO:0007035 False familial acanthosis nigricans acanthosis nigricans UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0043003 MONDO:0100118 False familial acanthosis nigricans hereditary skin disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -31695,7 +31458,6 @@ MONDO:0043096 MONDO:0022357 False holoacardius amorphus congenital acardia UNSUP MONDO:0043099 MONDO:0006936 False Hordnes Engebretsen Knudtson syndrome pulmonary valve stenosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0043099 MONDO:0015469 False Hordnes Engebretsen Knudtson syndrome craniosynostosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0043101 MONDO:0002150 False hypothalamic dysfunction hypothalamic disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0043103 MONDO:0018612 False hypothyroidism due to iodide transport defect congenital hypothyroidism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0043106 MONDO:0002254 False ichthyosis linearis circumflexa syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0043106 MONDO:0006025 False ichthyosis linearis circumflexa autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0043106 MONDO:0015947 False ichthyosis linearis circumflexa inherited ichthyosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -31721,6 +31483,9 @@ MONDO:0043139 MONDO:0001386 False microcephaly sparse hair intellectual disabili MONDO:0043139 MONDO:0004907 False microcephaly sparse hair intellectual disability seizures alopecia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0043141 MONDO:0008797 False microdontia hypodontia short stature anodontia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0043141 MONDO:0015514 False microdontia hypodontia short stature hereditary endocrine growth disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0043143 MONDO:0015168 False microphthalmia microtia fetal akinesia arthrogryposis multiplex congenita UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0043143 MONDO:0016073 False microphthalmia microtia fetal akinesia syndromic microphthalmia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0043143 MONDO:0043009 False microphthalmia microtia fetal akinesia hereditary lethal multiple congenital anomalies/dysmorphic syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0043152 MONDO:0005578 False negative rheumatoid factor polyarthritis arthritic joint disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0043154 MONDO:0003282 False neonatal ovarian cyst ovarian cyst UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0043156 MONDO:0005377 False nephrotic syndrome ocular anomalies nephrotic syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -31751,11 +31516,9 @@ MONDO:0043206 MONDO:0006566 False trichostasis spinulosa keratosis UNSUPPORTED-M MONDO:0043207 MONDO:0001556 False urethral obstruction sequence urethral obstruction UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0043207 MONDO:0018559 False urethral obstruction sequence fetal lower urinary tract obstruction UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0043209 MONDO:0004736 False albinism inborn disorder of amino acid metabolism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0043218 MONDO:0005071 False neurovascular disorder nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0043218 MONDO:0005385 False neurovascular disorder vascular disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0043219 MONDO:0005475 False migraine with brainstem aura migraine with aura UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0043224 MONDO:0002679 False multi-infarct dementia cerebral infarction UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0043224 MONDO:0004648 False multi-infarct dementia vascular dementia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0043226 MONDO:0002657 False postpartum amenorrhea-galactorrhea syndrome breast disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0043226 MONDO:0009256 False postpartum amenorrhea-galactorrhea syndrome galactorrhea UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0043226 MONDO:0014250 False postpartum amenorrhea-galactorrhea syndrome familial hyperprolactinemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -31765,12 +31528,6 @@ MONDO:0043230 MONDO:0029000 False ciguatera fish poisoning poisoning UNSUPPORTED MONDO:0043233 MONDO:0002406 False exfoliative dermatitis dermatitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0043237 MONDO:0001165 False glossodynia tongue disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0043237 MONDO:0700057 False glossodynia neurological pain disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0043240 MONDO:0005578 False hemophilic arthropathy arthritic joint disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0043243 MONDO:0021074 False leukoplakia precancerous condition UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0043247 MONDO:0002254 False Mallory-Weiss syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0043251 MONDO:0005586 False odontoma head and neck neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0043251 MONDO:0006499 False odontoma hamartoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0043251 MONDO:0006858 False odontoma mouth disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0043251 MONDO:0021223 False odontoma digestive system neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0043254 MONDO:0005492 False papular urticaria urticaria UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0043254 MONDO:0006617 False papular urticaria vesiculobullous skin disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -31783,19 +31540,14 @@ MONDO:0043277 MONDO:0700013 False mosaic trisomy 6 chromosome 6 disorder UNSUPPO MONDO:0043277 MONDO:0700065 False mosaic trisomy 6 trisomy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0043280 MONDO:0005071 False Wallerian degeneration nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0043283 MONDO:0005960 False silicosiderosis silicosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0043287 MONDO:0002254 False superior vena cava syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0043287 MONDO:0005385 False superior vena cava syndrome vascular disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0043291 MONDO:0004868 False Rokitansky-Aschoff sinuses of the gallbladder biliary tract disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0043291 MONDO:0005281 False Rokitansky-Aschoff sinuses of the gallbladder gallbladder disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0043294 MONDO:0019562 False linear scleroderma localized scleroderma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0043297 MONDO:0007014 False vibrio vulnificus infectious disease vibrio infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0043300 MONDO:0002102 False actinic cheilitis cheilitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0043303 MONDO:0021205 False hyperacusis disorder of ear UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0043303 MONDO:0024422 False hyperacusis auditory perceptual disorders UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0043310 MONDO:0001941 False amaurosis fugax blindness (disorder) UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0043314 MONDO:0020590 False aquarium granuloma mycobacterial infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0043314 MONDO:0024295 False aquarium granuloma skin disease caused by bacterial infection UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0043320 MONDO:0002254 False piriformis syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0043317 MONDO:0016367 False amyopathic dermatomyositis dermatomyositis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0043320 MONDO:0003615 False piriformis syndrome nerve compression syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0043320 MONDO:0024333 False piriformis syndrome sciatica UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0043327 MONDO:0002602 False cerebrospinal fluid leak central nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -31806,50 +31558,33 @@ MONDO:0043346 MONDO:0005062 False progressive transformation of germinal centers MONDO:0043349 MONDO:0024461 False intravascular papillary endothelial hyperplasia angiomatosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0043352 MONDO:0003150 False fournier gangrene male reproductive system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0043352 MONDO:0005113 False fournier gangrene bacterial infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0043355 MONDO:0004966 False collagenous gastritis gastritis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0043358 MONDO:0002254 False engraftment syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0043358 MONDO:0700222 False engraftment syndrome disease related to hematopoietic stem cell transplant UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0043361 MONDO:0005294 False May-Thurner syndrome peripheral vascular disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0043364 MONDO:0004805 False eosinophil peroxidase deficiency leukocyte disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0043364 MONDO:0006025 False eosinophil peroxidase deficiency autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0043370 MONDO:0000004 False secondary adrenal insufficiency adrenocortical insufficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0043373 MONDO:0020677 False sudden sensorineural hearing loss sudden hearing loss disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0043373 MONDO:0020678 False sudden sensorineural hearing loss sensorineural hearing loss disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0043377 MONDO:0005306 False juvenile spondyloarthropathy ankylosing spondylitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0043424 MONDO:0004335 False digestive system infectious disorder digestive system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0043424 MONDO:0005550 False digestive system infectious disorder infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0043452 MONDO:0700015 False chromosome 8, trisomy chromosome 8 disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0043452 MONDO:0700065 False chromosome 8, trisomy trisomy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0043455 MONDO:0001566 False humoral hypercalcemia of malignancy hypercalcemia disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0043455 MONDO:0021073 False humoral hypercalcemia of malignancy paraneoplastic syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0043458 MONDO:0021178 False radiation injury injury UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0043459 MONDO:0700096 False radiation-induced disorder human disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0043465 MONDO:0004298 False achlorhydria stomach disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0043468 MONDO:0005348 False acne keloid keloid UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0043468 MONDO:0006552 False acne keloid folliculitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0043472 MONDO:0005495 False ectopic ACTH secretion syndrome adrenal gland disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0043472 MONDO:0021058 False ectopic ACTH secretion syndrome neoplastic syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0043475 MONDO:0002254 False Adams-Stokes syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0043475 MONDO:0008848 False Adams-Stokes syndrome atrioventricular dissociation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0043479 MONDO:0100329 False adenoviridae infectious disease primary viral infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0043494 MONDO:0000473 False arteritis arterial disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0043494 MONDO:0018882 False arteritis vasculitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0043510 MONDO:0005560 False brain injury brain disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0043510 MONDO:0044745 False brain injury nervous system injury UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0043512 MONDO:0005560 False traumatic encephalopathy brain disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0043519 MONDO:0021178 False burn injury UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0043523 MONDO:0029000 False cadmium poisoning poisoning UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0043529 MONDO:0005267 False carcinoid heart disease heart disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0043537 MONDO:0005560 False cluster headache syndrome brain disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0043537 MONDO:0015530 False cluster headache syndrome trigeminal autonomic cephalalgia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0043541 MONDO:0003799 False viral conjunctivitis conjunctivitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0043541 MONDO:0020950 False viral conjunctivitis viral eye infection UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0043543 MONDO:0700096 False iatrogenic disease human disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0043544 MONDO:0005550 False nosocomial infection infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0043544 MONDO:0043543 False nosocomial infection iatrogenic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0043549 MONDO:0005240 False crush syndrome kidney disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0043555 MONDO:0001517 False infantile diarrhea dysentery UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0043576 MONDO:0043494 False endarteritis arteritis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0043579 MONDO:0002269 False enteritis gastroenteritis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0043579 MONDO:0024635 False enteritis small intestine disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0043589 MONDO:0005327 False femoral neck fracture hip fracture UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -31857,25 +31592,16 @@ MONDO:0043653 MONDO:0004609 False herpes labialis herpes simplex infectious dise MONDO:0043653 MONDO:0004748 False herpes labialis lip disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0043653 MONDO:0100330 False herpes labialis disease arising from reactivation of latent virus UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0043678 MONDO:0019040 False chromosome inversion disorder chromosomal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0043683 MONDO:0002254 False Leriche syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0043683 MONDO:0005561 False Leriche syndrome aortic disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0043693 MONDO:0005154 False alcoholic liver diseases liver disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0043693 MONDO:0021699 False alcoholic liver diseases alcohol-induced disorders UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0043723 MONDO:0005322 False Monteggia's fracture ulna fracture UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0043726 MONDO:0002254 False multiple organ dysfunction syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0043731 MONDO:0000837 False lytic metastatic bone lesion bone resorption disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0043735 MONDO:0005380 False osteoradionecrosis osteonecrosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0043735 MONDO:0043459 False osteoradionecrosis radiation-induced disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0043759 MONDO:0000755 False abdominal ectopic pregnancy ectopic pregnancy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0043762 MONDO:0000755 False tubal pregnancy ectopic pregnancy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0043762 MONDO:0002156 False tubal pregnancy fallopian tube disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0043765 MONDO:0005365 False presbycusis hearing loss disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0043768 MONDO:0002049 False thrombocytopenic purpura thrombocytopenia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0043768 MONDO:0002610 False thrombocytopenic purpura purpura UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0043768 MONDO:0005046 False thrombocytopenic purpura immune system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0043768 MONDO:0019737 False thrombocytopenic purpura thrombotic microangiopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0043771 MONDO:0002406 False radiodermatitis dermatitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0043771 MONDO:0043459 False radiodermatitis radiation-induced disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0043775 MONDO:0005728 False respiratory paralysis diaphragm disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0043775 MONDO:0006496 False respiratory paralysis palsy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0043775 MONDO:0021113 False respiratory paralysis respiratory failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -31883,7 +31609,6 @@ MONDO:0043777 MONDO:0006604 False rhinophyma rosacea UNSUPPORTED-MISSING UNSUPPO MONDO:0043777 MONDO:0006607 False rhinophyma sebaceous gland disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0043783 MONDO:0005093 False sclerema neonatorum skin disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0043786 MONDO:0021166 False serositis inflammatory disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0043789 MONDO:0002459 False serum sickness type IV hypersensitivity disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0043789 MONDO:0007004 False serum sickness type III hypersensitivity disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0043797 MONDO:0000812 False spinal cord injury vertebral column disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0043797 MONDO:0002545 False spinal cord injury spinal cord disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -31892,22 +31617,15 @@ MONDO:0043797 MONDO:0044745 False spinal cord injury nervous system injury UNSUP MONDO:0043836 MONDO:0000812 False tuberculosis, spinal vertebral column disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0043836 MONDO:0005962 False tuberculosis, spinal skeletal tuberculosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0043839 MONDO:0700096 False ulcer disease human disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0043862 MONDO:0004382 False voice disorders laryngeal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0043875 MONDO:0005066 False tumor lysis syndrome metabolic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0043875 MONDO:0021058 False tumor lysis syndrome neoplastic syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0043878 MONDO:0001084 False hereditary optic atrophy primary optic atrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0043878 MONDO:0024237 False hereditary optic atrophy inherited neurodegenerative disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0043885 MONDO:0005328 False eye infectious disorder eye disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0043885 MONDO:0005550 False eye infectious disorder infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0043892 MONDO:0005550 False prosthesis-related infectious disease infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0043895 MONDO:0021178 False ankle injury injury UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0043904 MONDO:0005446 False leishmaniasis, diffuse cutaneous cutaneous leishmaniasis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0043905 MONDO:0005275 False pneumonitis lung disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0043905 MONDO:0021166 False pneumonitis inflammatory disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0043919 MONDO:0015925 False radiation pneumonitis interstitial lung disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0043919 MONDO:0043459 False radiation pneumonitis radiation-induced disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0043919 MONDO:0043905 False radiation pneumonitis pneumonitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0043923 MONDO:0006572 False lichen planus, oral lichen planus UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0043923 MONDO:0006858 False lichen planus, oral mouth disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0043953 MONDO:0021678 False burkholderia infectious disease gram-negative bacterial infections UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0043959 MONDO:0005833 False pseudolymphoma lymphatic system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -31919,34 +31637,26 @@ MONDO:0043985 MONDO:0000568 False central nervous system lupus autoimmune disord MONDO:0043985 MONDO:0007915 False central nervous system lupus systemic lupus erythematosus UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0043988 MONDO:0005609 False zoster sine herpete herpes zoster UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0043994 MONDO:0001930 False acute cholecystitis acute cholangitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0043994 MONDO:0002155 False acute cholecystitis cholecystitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0044001 MONDO:0005365 False hearing loss, mixed conductive-sensorineural hearing loss disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0044013 MONDO:0700003 False puerperal disorder obstetric disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0044014 MONDO:0005623 False postpartum thyroiditis autoimmune thyroid disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0044014 MONDO:0044013 False postpartum thyroiditis puerperal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0044033 MONDO:0002254 False posterior leukoencephalopathy syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0044033 MONDO:0006796 False posterior leukoencephalopathy syndrome hypertensive encephalopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0044037 MONDO:0005294 False livedo reticularis peripheral vascular disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0044037 MONDO:0019293 False livedo reticularis skin vascular disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0044067 MONDO:0002026 False candidiasis, invasive candidiasis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0044070 MONDO:0044067 False candidemia candidiasis, invasive UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0044079 MONDO:0002254 False cardio-renal syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0044079 MONDO:0005252 False cardio-renal syndrome heart failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0044083 MONDO:0002041 False alternariosis fungal infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0044092 MONDO:0005020 False collagenous sprue intestinal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0044092 MONDO:0005066 False collagenous sprue metabolic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0044098 MONDO:0000755 False ovarian ectopic pregnancy ectopic pregnancy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0044098 MONDO:0005558 False ovarian ectopic pregnancy ovarian disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0044101 MONDO:0000755 False pregnancy, cornual ectopic pregnancy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0044101 MONDO:0002654 False pregnancy, cornual uterine disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0044113 MONDO:0005282 False bullous systemic lupus erythematosus cutaneous lupus erythematosus UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0044113 MONDO:0007915 False bullous systemic lupus erythematosus systemic lupus erythematosus UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0044137 MONDO:0005328 False vitreous body disorder eye disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0044138 MONDO:0006806 False hyalitis intermediate uveitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0044138 MONDO:0044137 False hyalitis vitreous body disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0044141 MONDO:0005383 False panic disorder without agoraphobia panic disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0044144 MONDO:0003709 False panic disorder with agoraphobia agoraphobia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0044144 MONDO:0005383 False panic disorder with agoraphobia panic disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0044200 MONDO:0015974 False T-B+ severe combined immunodeficiency severe combined immunodeficiency UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0044201 MONDO:0015974 False T+ B+ severe combined immunodeficiency severe combined immunodeficiency UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0044202 MONDO:0015427 False episodic kinesigenic dyskinesia paroxysmal dyskinesia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0044203 MONDO:0003847 False foveal hypoplasia hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0044209 MONDO:0003832 False disorder of lectin complement activation pathway complement deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0044210 MONDO:0013517 False thalassemia minor beta-thalassemia HBB/LCRB UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -31955,13 +31665,16 @@ MONDO:0044212 MONDO:0044211 False chronic idiopathic urticaria idiopathic urtica MONDO:0044213 MONDO:0020683 False acute idiopathic urticaria acute disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0044213 MONDO:0044211 False acute idiopathic urticaria idiopathic urticaria UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0044299 MONDO:0002320 False myasthenic syndrome, congenital, 22 congenital nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0044300 MONDO:0016362 False familial adenomatous polyposis 4 attenuated familial adenomatous polyposis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0044300 MONDO:0016362 False familial adenomatous polyposis 4 attenuated familial adenomatous polyposis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0044301 MONDO:0020573 False aortic aneurysm, familial thoracic 11, susceptibility to inherited disease susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0044302 MONDO:0003847 False congenital heart defects, dysmorphic facial features, and intellectual developmental disorder hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0044303 MONDO:0003847 False congenital heart defects and ectodermal dysplasia hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0044304 MONDO:0006025 False hyperphenylalaninemia due to DNAJC12 deficiency autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0044304 MONDO:0019189 False hyperphenylalaninemia due to DNAJC12 deficiency inborn disorder of amino acid and other organic acid metabolism UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0044304 MONDO:0037871 False hyperphenylalaninemia due to DNAJC12 deficiency amino acid metabolism disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0044306 MONDO:0015653 False neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination monogenic epilepsy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0044306 MONDO:0100500 False neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination Mendelian neurodevelopmental disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0044311 MONDO:0003847 False brachycephaly, trichomegaly, and developmental delay hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0044312 MONDO:0016761 False immunoskeletal dysplasia with neurodevelopmental abnormalities spondyloepiphyseal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0044315 MONDO:0020573 False craniosynostosis 7 inherited disease susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0044316 MONDO:0003847 False thrombocytopenia, anemia, and myelofibrosis hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -31969,6 +31682,8 @@ MONDO:0044318 MONDO:0000508 False intellectual developmental disorder with gastr MONDO:0044318 MONDO:0700092 False intellectual developmental disorder with gastrointestinal difficulties and high pain threshold neurodevelopmental disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0044319 MONDO:0000508 False intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0044319 MONDO:0002320 False intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies congenital nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0044319 MONDO:0015159 False intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0044319 MONDO:0015653 False intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies monogenic epilepsy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0044321 MONDO:0003847 False structural heart defects and renal anomalies syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0044321 MONDO:0015161 False structural heart defects and renal anomalies syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0044322 MONDO:0000508 False intellectual developmental disorder with neuropsychiatric features syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -31977,65 +31692,116 @@ MONDO:0044324 MONDO:0000508 False Al Kaissi syndrome syndromic intellectual disa MONDO:0044326 MONDO:0700092 False developmental delay and seizures with or without movement abnormalities neurodevelopmental disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0044329 MONDO:0800064 False osteogenesis imperfecta, type 18 osteogenesis imperfecta and a reduction of bone mineral density. UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0044332 MONDO:0005395 False childhood-onset benign chorea with striatal involvement movement disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0044333 MONDO:0010198 False alcohol-induced Wernicke-Korsakoff's syndrome Wernicke-Korsakoff syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0044332 MONDO:0015548 False childhood-onset benign chorea with striatal involvement Huntington disease-like syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0044333 MONDO:0021702 False alcohol-induced Wernicke-Korsakoff's syndrome alcohol amnestic disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0044338 MONDO:0000569 False autoimmune primary ovarian failure autoimmune disorder of endocrine system UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0044338 MONDO:0005387 False autoimmune primary ovarian failure primary ovarian failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0044339 MONDO:0011385 False lumbar disk degenerative disorder intervertebral disk degenerative disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0044342 MONDO:0011385 False thoracic disk degenerative disorder intervertebral disk degenerative disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0044343 MONDO:0011385 False cervical disk degenerative disorder intervertebral disk degenerative disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0044344 MONDO:0015254 False Schistosoma japonicum infectious disease schistosomiasis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0044345 MONDO:0015254 False Schistosoma mansoni infectious disease schistosomiasis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0044346 MONDO:0005738 False echinococcus granulosus infectious disease echinococcosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0044347 MONDO:0005570 False erythrocyte disorder hematologic disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0044348 MONDO:0044347 False hemoglobinopathy erythrocyte disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0044349 MONDO:0044348 False acquired hemoglobinopathy hemoglobinopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0044350 MONDO:0016365 False hyperparathyroidism, primary, caused by water clear cell hyperplasia familial primary hyperparathyroidism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0044351 MONDO:0015254 False Schistosoma intercalatum infectious disease schistosomiasis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0044355 MONDO:0005554 False isolated sternocostoclavicular hyperostosis rheumatic disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0044406 MONDO:0019287 False arthrogryposis-ectodermal dysplasia-other anomalies syndrome ectodermal dysplasia syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0044406 MONDO:0019942 False arthrogryposis-ectodermal dysplasia-other anomalies syndrome distal arthrogryposis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0044617 MONDO:0002254 False X-linked keloid scarring-reduced joint mobility-increased optic cup-to-disc ratio syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0044619 MONDO:0016677 False propylthiouracil embryofetopathy toxic or drug-related embryofetopathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0044621 MONDO:0015159 False 16p12.1p12.3 triplication syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0044621 MONDO:0016949 False 16p12.1p12.3 triplication syndrome partial duplication of the short arm of chromosome 16 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0044622 MONDO:0020127 False EMILIN-1-related connective tissue disease hereditary peripheral neuropathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0044622 MONDO:0023603 False EMILIN-1-related connective tissue disease hereditary disorder of connective tissue UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0044624 MONDO:0004966 False pediatric collagenous gastritis gastritis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0044625 MONDO:0018993 False autosomal dominant charcot-marie-tooth disease type 2 due to DGAT2 mutation Charcot-Marie-Tooth disease type 2 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0044626 MONDO:0021124 False female infertility due to oocyte meiotic arrest female infertility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0044627 MONDO:0005283 False acute macular neuroretinopathy retinal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0044627 MONDO:0020683 False acute macular neuroretinopathy acute disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0044628 MONDO:0016643 False six2-related frontonasal dysplasia frontonasal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0044629 MONDO:0015225 False congenital amyoplasia arthrogryposis syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0044632 MONDO:0005269 False extracranial carotid artery aneurysm carotid artery disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0044633 MONDO:0002429 False idiopathic pleuroparenchymal fibroelastosis idiopathic interstitial pneumonia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0044634 MONDO:0002254 False retinitis pigmentosa-hearing loss-premature aging-short stature-facial dysmorphism syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0044634 MONDO:0003847 False retinitis pigmentosa-hearing loss-premature aging-short stature-facial dysmorphism syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0044634 MONDO:0015160 False retinitis pigmentosa-hearing loss-premature aging-short stature-facial dysmorphism syndrome multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0044635 MONDO:0018795 False DIAPH1-related sensorineural hearing loss-thrombocytopenia syndrome syndromic constitutional thrombocytopenia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0044637 MONDO:0015990 False infantile-onset generalized dyskinesia with orofacial involvement focal, segmental or multifocal dystonia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0044640 MONDO:0018993 False Charcot-Marie-Tooth disease type 2T Charcot-Marie-Tooth disease type 2 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0044641 MONDO:0000508 False 9q33.3q34.11 microdeletion syndrome syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0044641 MONDO:0002320 False 9q33.3q34.11 microdeletion syndrome congenital nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0044641 MONDO:0005328 False 9q33.3q34.11 microdeletion syndrome eye disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0044641 MONDO:0015159 False 9q33.3q34.11 microdeletion syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0044641 MONDO:0016908 False 9q33.3q34.11 microdeletion syndrome partial monosomy of the long arm of chromosome 9 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0044642 MONDO:0019046 False c11orf73-related autosomal recessive hypomyelinating leukodystrophy leukodystrophy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0044643 MONDO:0002254 False congenital labioscrotal agenesis-cerebellar malformation-corneal dystrophy-facial dysmorphism syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0044643 MONDO:0002320 False congenital labioscrotal agenesis-cerebellar malformation-corneal dystrophy-facial dysmorphism syndrome congenital nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0044643 MONDO:0015159 False congenital labioscrotal agenesis-cerebellar malformation-corneal dystrophy-facial dysmorphism syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0044643 MONDO:0020022 False congenital labioscrotal agenesis-cerebellar malformation-corneal dystrophy-facial dysmorphism syndrome central nervous system malformation UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0044644 MONDO:0003150 False congenital agenesis of the scrotum male reproductive system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0044644 MONDO:0021147 False congenital agenesis of the scrotum disorder of development or morphogenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0044645 MONDO:0003847 False familial monosomy 7 syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0044645 MONDO:0018881 False familial monosomy 7 syndrome myelodysplastic syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0044646 MONDO:0002320 False early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome congenital nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0044646 MONDO:0015159 False early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0044646 MONDO:0024237 False early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome inherited neurodegenerative disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0044646 MONDO:0100198 False early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome Mendelian encephalopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0044647 MONDO:0018943 False kyphosis-lateral tongue atrophy-myofibrillar myopathy syndrome myofibrillar myopathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0044648 MONDO:0015150 False kyphoscoliosis-lateral tongue atrophy-hereditary spastic paraplegia syndrome complex hereditary spastic paraplegia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0044649 MONDO:0005267 False omphalocele-diaphragmatic hernia-cardiovascular anomalies-radial ray defect syndrome heart disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0044649 MONDO:0015160 False omphalocele-diaphragmatic hernia-cardiovascular anomalies-radial ray defect syndrome multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0044649 MONDO:0018234 False omphalocele-diaphragmatic hernia-cardiovascular anomalies-radial ray defect syndrome dysostosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0044649 MONDO:0019054 False omphalocele-diaphragmatic hernia-cardiovascular anomalies-radial ray defect syndrome congenital limb malformation UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0044651 MONDO:0015363 False early-onset progressive encephalopathy-spastic ataxia-distal spinal muscular atrophy syndrome neuronopathy, distal hereditary motor, autosomal recessive UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0044651 MONDO:0018307 False early-onset progressive encephalopathy-spastic ataxia-distal spinal muscular atrophy syndrome neurodegeneration with brain iron accumulation UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0044651 MONDO:0020046 False early-onset progressive encephalopathy-spastic ataxia-distal spinal muscular atrophy syndrome autosomal recessive degenerative and progressive cerebellar ataxia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0044651 MONDO:0022687 False early-onset progressive encephalopathy-spastic ataxia-distal spinal muscular atrophy syndrome cerebellar degeneration UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0044656 MONDO:0017266 False epidermolytic nevus keratinopathic ichthyosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0044657 MONDO:0018993 False MME-related autosomal dominant Charcot Marie Tooth disease type 2 Charcot-Marie-Tooth disease type 2 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0044660 MONDO:0002263 False menstrual cycle-dependent periodic fever female reproductive system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0044660 MONDO:0003847 False menstrual cycle-dependent periodic fever hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0044663 MONDO:0006590 False aquagenic palmoplantar keratoderma palmoplantar keratosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0044663 MONDO:0019268 False aquagenic palmoplantar keratoderma epidermal disease UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0044675 MONDO:0018230 False LRP5-related primary osteoporosis skeletal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0044682 MONDO:0015168 False MYBPC1-related autosomal recessive non-lethal arthrogryposis multiplex congenita syndrome arthrogryposis multiplex congenita UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0044685 MONDO:0005328 False autoimmune/inflammatory optic neuropathy eye disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0044687 MONDO:0044685 False chronic relapsing inflammatory optic neuropathy autoimmune/inflammatory optic neuropathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0044688 MONDO:0044685 False isolated optic neuritis autoimmune/inflammatory optic neuropathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0044689 MONDO:0044685 False recurrent idiopathic neuroretinitis autoimmune/inflammatory optic neuropathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0044689 MONDO:0700007 False recurrent idiopathic neuroretinitis idiopathic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0044690 MONDO:0044685 False optic perineuritis autoimmune/inflammatory optic neuropathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0044696 MONDO:0015159 False early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0044696 MONDO:0100198 False early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome Mendelian encephalopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0044699 MONDO:0000508 False SIN3A-related intellectual disability syndrome syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0044699 MONDO:0002320 False SIN3A-related intellectual disability syndrome congenital nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0044699 MONDO:0003847 False SIN3A-related intellectual disability syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0044699 MONDO:0015159 False SIN3A-related intellectual disability syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0044700 MONDO:0044699 False SIN3A-related intellectual disability syndrome due to a point mutation SIN3A-related intellectual disability syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0044701 MONDO:0002320 False childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder congenital nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0044701 MONDO:0005395 False childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder movement disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0044701 MONDO:0015159 False childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0044701 MONDO:0020022 False childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder central nervous system malformation UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0044702 MONDO:0018751 False X-linked external auditory canal atresia-dilated internal auditory canal-facial dysmorphism syndrome hereditary otorhinolaryngologic disease UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0044702 MONDO:0019755 False X-linked external auditory canal atresia-dilated internal auditory canal-facial dysmorphism syndrome developmental defect during embryogenesis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0044705 MONDO:0000514 False paranasal sinus squamous cell carcinoma bone squamous cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0044710 MONDO:0024623 False lip and oral cavity squamous cell carcinoma otorhinolaryngologic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0044709 MONDO:0015604 False cochleovestibular dysplasia middle ear anomaly UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0044714 MONDO:0009637 False mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome inborn mitochondrial myopathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0044715 MONDO:0015160 False metopic ridging-ptosis-facial dysmorphism syndrome multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0044715 MONDO:0015338 False metopic ridging-ptosis-facial dysmorphism syndrome syndromic craniosynostosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0044717 MONDO:0015160 False 4q25 proximal deletion syndrome multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0044717 MONDO:0016903 False 4q25 proximal deletion syndrome partial deletion of the long arm of chromosome 4 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0044718 MONDO:0019046 False alkaline ceramidase 3 deficiency leukodystrophy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0044719 MONDO:0017396 False erythema multiforme major toxic dermatosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0044720 MONDO:0018751 False cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome hereditary otorhinolaryngologic disease UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0044720 MONDO:0020047 False cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome autosomal recessive syndromic cerebellar ataxia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0044721 MONDO:0044200 False severe combined immunodeficiency due to LAT deficiency T-B+ severe combined immunodeficiency UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0044726 MONDO:0015962 False psychomotor regression-oculomotor apraxia-movement disorder-nephropathy syndrome inherited renal tubular disease UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0044726 MONDO:0017764 False psychomotor regression-oculomotor apraxia-movement disorder-nephropathy syndrome disorder of zinc metabolism UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0044726 MONDO:0024237 False psychomotor regression-oculomotor apraxia-movement disorder-nephropathy syndrome inherited neurodegenerative disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0044737 MONDO:0015150 False autosomal recessive complex spastic paraplegia due to kennedy pathway dysfunction complex hereditary spastic paraplegia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0044737 MONDO:0015905 False autosomal recessive complex spastic paraplegia due to kennedy pathway dysfunction syndromic dyslipidemia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0044737 MONDO:0018117 False autosomal recessive complex spastic paraplegia due to kennedy pathway dysfunction disorder of phospholipids, sphingolipids and fatty acids biosynthesis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0044738 MONDO:0015159 False Gabriele de Vries syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0044739 MONDO:0019810 False Stevens-Johnson syndrome/toxic epidermal necrolysis overlap syndrome toxic epidermal necrolysis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0044740 MONDO:0004958 False salivary gland squamous cell carcinoma oral cavity squamous cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0044740 MONDO:0017167 False salivary gland squamous cell carcinoma malignant epithelial tumor of salivary glands UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0044742 MONDO:0006025 False autosomal recessive epidermolytic ichthyosis autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0044742 MONDO:0007239 False autosomal recessive epidermolytic ichthyosis epidermolytic ichthyosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0044744 MONDO:0001531 False prekallikrein deficiency blood coagulation disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -32046,44 +31812,32 @@ MONDO:0044749 MONDO:0002320 False X-linked congenital stationary night blindness MONDO:0044749 MONDO:0016293 False X-linked congenital stationary night blindness congenital stationary night blindness UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0044750 MONDO:0005650 False lassa virus infectious disease Arenaviridae infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0044751 MONDO:0001673 False chronic diarrheal disease diarrheal disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0044753 MONDO:0005965 False lumbar spinal stenosis spinal stenosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0044762 MONDO:0000251 False diarrheal disease secondary to increased bowel motility diarrheal disease secondary to altered bowel motility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0044764 MONDO:0000629 False benign choroid plexus neoplasm cardiovascular organ benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0044764 MONDO:0024296 False benign choroid plexus neoplasm vascular neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0044764 MONDO:0043218 False benign choroid plexus neoplasm neurovascular disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0044765 MONDO:0005377 False steroid-resistant nephrotic syndrome nephrotic syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0044767 MONDO:0021079 False childhood adrenal gland pheochromocytoma childhood neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0044768 MONDO:0021052 False vagus nerve paraganglioma parasympathetic paraganglioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0044781 MONDO:0044765 False nephrotic syndrome of childhood - steroid sensitive steroid-resistant nephrotic syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0044782 MONDO:0003749 False esophageal ulcer esophageal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0044782 MONDO:0043839 False esophageal ulcer ulcer disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0044785 MONDO:0020663 False desmoplastic melanoma malignant spindle cell neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0044791 MONDO:0018536 False combined hepatocellular carcinoma and cholangiocarcinoma adenocarcinoma of gallbladder and extrahepatic biliary tract UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0044792 MONDO:0100118 False large congenital melanocytic nevus hereditary skin disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0044796 MONDO:0020664 False spindle cell nevus spindle cell neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0044807 MONDO:0003441 False inherited dystonia dystonic disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0044807 MONDO:0003847 False inherited dystonia hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0044811 MONDO:0003441 False idiopathic torsion dystonia dystonic disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0044811 MONDO:0700007 False idiopathic torsion dystonia idiopathic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0044816 MONDO:0044807 False familial idiopathic torsion dystonia inherited dystonia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0044816 MONDO:0044811 False familial idiopathic torsion dystonia idiopathic torsion dystonia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0044817 MONDO:0044811 False acquired idiopathic torsion dystonia idiopathic torsion dystonia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0044843 MONDO:0003441 False torsion dystonia dystonic disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0044870 MONDO:0044843 False acquired torsion dystonia torsion dystonia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0044871 MONDO:0000477 False dystonia, focal, task-specific focal dystonia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0044871 MONDO:0044807 False dystonia, focal, task-specific inherited dystonia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0044872 MONDO:0001292 False dysautonomia autonomic nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0044874 MONDO:0044873 False refractory cytopenia of childhood childhood myelodysplastic syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0044875 MONDO:0005267 False coronary microvascular disorder heart disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0044875 MONDO:0005385 False coronary microvascular disorder vascular disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0044876 MONDO:0002254 False drug hypersensitivity syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0044877 MONDO:0022687 False paraneoplastic cerebellar degeneration cerebellar degeneration UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0044877 MONDO:0018215 False paraneoplastic cerebellar degeneration paraneoplastic neurologic syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0044879 MONDO:0044880 False pancreatic mucinous-cystic neoplasm cystic tumor of the pancreas UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0044884 MONDO:0007650 False tonsillar lymphoma MALT lymphoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0044884 MONDO:0018751 False tonsillar lymphoma hereditary otorhinolaryngologic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0044887 MONDO:0015759 False central nervous system non-hodgkin lymphoma B-cell non-Hodgkin lymphoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0044903 MONDO:0020076 False myelofibrosis myeloproliferative neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0044921 MONDO:0016537 False atypical lymphoproliferative disorder lymphoproliferative syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0044921 MONDO:0060782 False atypical lymphoproliferative disorder premalignant hematological system disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0044925 MONDO:0006181 False oral cavity carcinoma digestive system carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0044937 MONDO:0024476 False rectal carcinoma epithelial neoplasm of rectum UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0044972 MONDO:0004805 False eosinophil disorder leukocyte disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -32132,77 +31886,92 @@ MONDO:0045046 MONDO:0003240 False inherited thyroid metabolism disease thyroid g MONDO:0045046 MONDO:0019052 False inherited thyroid metabolism disease inborn errors of metabolism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0045047 MONDO:0005071 False neurosarcoidosis nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0045047 MONDO:0019338 False neurosarcoidosis sarcoidosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0045048 MONDO:0024664 False toxemia of pregnancy hypertension, pregnancy-induced UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0045049 MONDO:0005129 False hypermature cataract cataract UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0045050 MONDO:0005129 False nuclear cataract cataract UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0045051 MONDO:0005129 False cortical cataract cataract UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0045054 MONDO:0045024 False cancer-related condition cancer or benign tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0045057 MONDO:0002039 False delirium cognitive disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0045054 MONDO:0045024 False cancer-related condition cell proliferation disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0045058 MONDO:0017611 False ACTH-producing pituitary gland neoplasm pituitary tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0045059 MONDO:0004989 False cribriform carcinoma of breast breast carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0045059 MONDO:0006176 False cribriform carcinoma of breast cribriform carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0045060 MONDO:0045059 False intraductal cribriform breast adenocarcinoma cribriform carcinoma of breast UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0045068 MONDO:0006304 False minor salivary gland adenoid cystic carcinoma minor salivary gland adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0045071 MONDO:0015821 False mycosis fungoides variant mycosis fungoides and variants UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0045072 MONDO:0021058 False ectopic hormone secretion syndrome associated with neoplasia neoplastic syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0049223 MONDO:0800064 False osteogenesis imperfecta, type 19 osteogenesis imperfecta and a reduction of bone mineral density. UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0054549 MONDO:0100261 False peroxisome biogenesis disorder 10B peroxisome biogenesis disorder due to PEX3 defect UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0054550 MONDO:0022800 False avascular necrosis of femoral head, primary, 1 type 2 collagenopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0054559 MONDO:0017750 False congenital disorder of glycosylation, type IIq defect in conserved oligomeric Golgi complex UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0054573 MONDO:0002254 False Lopes-Maciel-Rodan syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0054581 MONDO:0800066 False Townes-Brocks syndrome 1 polydactyly-syndactyly-triphalangism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0054591 MONDO:0002254 False Stankiewicz-Isidor syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0054591 MONDO:0700092 False Stankiewicz-Isidor syndrome neurodevelopmental disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0054593 MONDO:0007988 False microcephaly 18, primary, autosomal dominant autosomal dominant primary microcephaly UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS MONDO:0054636 MONDO:0002254 False Skraban-Deardorff syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0054636 MONDO:0015159 False Skraban-Deardorff syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0054708 MONDO:0022410 False retinitis pigmentosa 80 retinal ciliopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0054708 MONDO:0100509 False retinitis pigmentosa 80 IFT140-related recessive ciliopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0054750 MONDO:0020573 False amyotrophic lateral sclerosis, susceptibility to, 24 inherited disease susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0054754 MONDO:0800174 False encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 8 encephalitis, acute, infection-induced, susceptibility to UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0054780 MONDO:0017319 False elliptocytosis 3 hereditary elliptocytosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0054813 MONDO:0006025 False Ehlers-Danlos syndrome, classic-like, 2 autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0054833 MONDO:0000426 False charcot-marie-tooth disease, axonal, type 2DD autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0054833 MONDO:0018993 False charcot-marie-tooth disease, axonal, type 2DD Charcot-Marie-Tooth disease type 2 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0054835 MONDO:0700117 False classic dopamine transporter deficiency syndrome SLC6A3-related dopamine transporter deficiency syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0054837 MONDO:0015802 False intellectual disability, autosomal dominant 57 autosomal dominant non-syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0054842 MONDO:0004691 False polycystic kidney disease 6 with or without polycystic liver disease autosomal dominant polycystic kidney disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0054862 MONDO:0003225 False premature ovarian failure 15 bone marrow disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0054865 MONDO:0016387 False encephalopathy due to mitochondrial and peroxisomal fission defect mitochondrial oxidative phosphorylation disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0054865 MONDO:0100276 False encephalopathy due to mitochondrial and peroxisomal fission defect disorder of defective peroxisomal and mitochondrial fission UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0054866 MONDO:0007263 False sudden arrhythmia death syndrome cardiac rhythm disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0054867 MONDO:0009264 False paraomphalocele gastroschisis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0054868 MONDO:0004567 False meconium ileus ileus UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0054869 MONDO:0016120 False nondystrophic myotonia myotonic syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0056795 MONDO:0010595 False X-linked spermatogenic failure 1 Sertoli cell-only syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0056797 MONDO:0100500 False neurodevelopmental disorder with midbrain and hindbrain malformations Mendelian neurodevelopmental disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0056798 MONDO:0024634 False disorder of appendix large intestine disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0056799 MONDO:0002081 False synovium disorder musculoskeletal system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0056802 MONDO:0056799 False synovial bursa disorder synovium disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0056803 MONDO:0000226 False sulfur metabolism disease mineral metabolism disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0056804 MONDO:0000628 False benign neoplasm of peripheral nervous system central nervous system organ benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0056804 MONDO:0001406 False benign neoplasm of peripheral nervous system peripheral nervous system neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0056815 MONDO:0018534 False liver adenosquamous carcinoma squamous cell carcinoma of liver and intrahepatic biliary tract UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0056817 MONDO:0018515 False rectal adenosquamous carcinoma squamous cell carcinoma of rectum UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0056818 MONDO:0002529 False skin adenosquamous carcinoma skin squamous cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0056822 MONDO:0003847 False amyotonia congenita hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0060455 MONDO:0000425 False X-linked congenital hemolytic anemia X-linked disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0060455 MONDO:0003689 False X-linked congenital hemolytic anemia familial hemolytic anemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0060456 MONDO:0003847 False cerebral sclerosis, diffuse, scholz type hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0060457 MONDO:0003847 False autoinflammation with arthritis and dyskeratosis hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0060489 MONDO:0100249 False 46,XX sex reversal 4 46,XX testicular disorder of sex development UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0060490 MONDO:0100500 False neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies Mendelian neurodevelopmental disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0060491 MONDO:0100500 False neurodevelopmental disorder with involuntary movements Mendelian neurodevelopmental disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0060496 MONDO:0100500 False neurodevelopmental disorder with hypotonia, neuropathy, and deafness Mendelian neurodevelopmental disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0060502 MONDO:0002320 False neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies congenital nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0060502 MONDO:0015159 False neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0060502 MONDO:0100500 False neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies Mendelian neurodevelopmental disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0060507 MONDO:0003847 False retinal dystrophy with or without macular staphyloma hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0060510 MONDO:0003847 False Cohen-Gibson syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0060527 MONDO:0003847 False maleylacetoacetate isomerase deficiency hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0060532 MONDO:0003847 False congenital heart defects and skeletal malformations syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0060533 MONDO:0003847 False microcephaly, short stature, and limb abnormalities hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0060549 MONDO:0003847 False congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0060550 MONDO:0019673 False polydactyly, postaxial, type a7 postaxial polydactyly type A UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0060551 MONDO:0003847 False cerebellar atrophy, developmental delay, and seizures hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0060556 MONDO:0002254 False joint laxity, short stature, and myopia syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0060556 MONDO:0006025 False joint laxity, short stature, and myopia autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0060556 MONDO:0019755 False joint laxity, short stature, and myopia developmental defect during embryogenesis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0060562 MONDO:0100198 False encephalopathy, neonatal severe, with lactic acidosis and brain abnormalities Mendelian encephalopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0060562 MONDO:0100500 False encephalopathy, neonatal severe, with lactic acidosis and brain abnormalities Mendelian neurodevelopmental disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0060564 MONDO:0006025 False HELIX syndrome autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0060564 MONDO:0015962 False HELIX syndrome inherited renal tubular disease UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0060568 MONDO:0000426 False Pilarowski-Bjornsson syndrome autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0060568 MONDO:0015159 False Pilarowski-Bjornsson syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0060577 MONDO:0100500 False neurodevelopmental disorder with microcephaly, ataxia, and seizures Mendelian neurodevelopmental disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0060578 MONDO:0100500 False neurodevelopmental disorder, mitochondrial, with abnormal movements and lactic acidosis, with or without seizures Mendelian neurodevelopmental disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0060582 MONDO:0006025 False auditory neuropathy-optic atrophy syndrome autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0060582 MONDO:0044970 False auditory neuropathy-optic atrophy syndrome mitochondrial disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0060583 MONDO:0003847 False platelet abnormalities with eosinophilia and immune-mediated inflammatory disease hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0060585 MONDO:0015362 False neuronopathy, distal hereditary motor, type 9 neuronopathy, distal hereditary motor, autosomal dominant UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS MONDO:0060589 MONDO:0003847 False facial palsy, congenital, with ptosis and velopharyngeal dysfunction hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0060591 MONDO:0003847 False immunodeficiency, developmental delay, and hypohomocysteinemia hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0060592 MONDO:0002254 False Sweeney-Cox syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0060592 MONDO:0003847 False Sweeney-Cox syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0060596 MONDO:0100500 False neurodevelopmental disorder with dysmorphic facies and distal limb anomalies Mendelian neurodevelopmental disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0060611 MONDO:0003847 False combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0060621 MONDO:0100500 False neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy Mendelian neurodevelopmental disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -32210,10 +31979,13 @@ MONDO:0060622 MONDO:0100500 False neurodevelopmental disorder with severe motor MONDO:0060624 MONDO:0100500 False neurodevelopmental disorder with ataxic gait, absent speech, and decreased cortical white matter Mendelian neurodevelopmental disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0060627 MONDO:0002525 False glycosylphosphatidylinositol biosynthesis defect 15 inherited lipid metabolism disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0060627 MONDO:0006025 False glycosylphosphatidylinositol biosynthesis defect 15 autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0060627 MONDO:0015159 False glycosylphosphatidylinositol biosynthesis defect 15 multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0060627 MONDO:0015286 False glycosylphosphatidylinositol biosynthesis defect 15 congenital disorder of glycosylation UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0060627 MONDO:0015327 False glycosylphosphatidylinositol biosynthesis defect 15 developmental anomaly of metabolic origin UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0060627 MONDO:0024321 False glycosylphosphatidylinositol biosynthesis defect 15 disorder of GPI anchor biosynthesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0060629 MONDO:0100500 False neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal recessive Mendelian neurodevelopmental disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0060631 MONDO:0002254 False Alkuraya-Kucinskas syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0060631 MONDO:0003847 False Alkuraya-Kucinskas syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0060640 MONDO:0100500 False neurodevelopmental disorder with microcephaly, epilepsy, and brain atrophy Mendelian neurodevelopmental disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0060641 MONDO:0100500 False neurodevelopmental disorder with or without seizures and gait abnormalities Mendelian neurodevelopmental disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0060642 MONDO:0100500 False neurodevelopmental disorder with movement abnormalities, abnormal gait, and autistic features Mendelian neurodevelopmental disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -32246,6 +32018,7 @@ MONDO:0060724 MONDO:0002525 False glycosylphosphatidylinositol biosynthesis defe MONDO:0060724 MONDO:0015286 False glycosylphosphatidylinositol biosynthesis defect 17 congenital disorder of glycosylation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0060724 MONDO:0024321 False glycosylphosphatidylinositol biosynthesis defect 17 disorder of GPI anchor biosynthesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0060729 MONDO:0019263 False protoporphyria, erythropoietic, 2 autosomal erythropoietic protoporphyria UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0060732 MONDO:0010110 False tetraamelia syndrome 2 tetraamelia-multiple malformations syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS MONDO:0060732 MONDO:0019713 False tetraamelia syndrome 2 non-syndromic limb reduction defect UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0060733 MONDO:0003847 False humerofemoral hypoplasia with radiotibial ray deficiency hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0060745 MONDO:0003847 False intellectual developmental disorder with or without epilepsy or cerebellar ataxia hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -32258,23 +32031,10 @@ MONDO:0060760 MONDO:0003847 False intellectual developmental disorder with dysmo MONDO:0060761 MONDO:0100500 False neurodevelopmental disorder with epilepsy and hypoplasia of the corpus callosum Mendelian neurodevelopmental disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0060763 MONDO:0000508 False intellectual developmental disorder with speech delay, dysmorphic facies, and t-cell abnormalities syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0060763 MONDO:0700120 False intellectual developmental disorder with speech delay, dysmorphic facies, and t-cell abnormalities BAFopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0060764 MONDO:0010110 False tetraamelia syndrome 1 tetraamelia-multiple malformations syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS MONDO:0060764 MONDO:0019713 False tetraamelia syndrome 1 non-syndromic limb reduction defect UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0060765 MONDO:0005079 False fibroepithelial polyp polyp UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0060766 MONDO:0002519 False anal polyp anus disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0060766 MONDO:0021398 False anal polyp polyp of rectum UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0060766 MONDO:0024292 False anal polyp gastrointestinal polyp UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0060768 MONDO:0003396 False gingival fibroepithelial polyp epulis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0060768 MONDO:0060765 False gingival fibroepithelial polyp fibroepithelial polyp UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0060774 MONDO:0021394 False vaginal fibroepithelial polyp polyp of vagina UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0060774 MONDO:0060765 False vaginal fibroepithelial polyp fibroepithelial polyp UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0060777 MONDO:0000751 False cervical fibroepithelial polyp cervical polyp UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0060777 MONDO:0060765 False cervical fibroepithelial polyp fibroepithelial polyp UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0060778 MONDO:0001083 False adult Fanconi syndrome Fanconi renotubular syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0060779 MONDO:0001083 False acquired Fanconi syndrome Fanconi renotubular syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0060781 MONDO:0060779 False Preeyasombat-Varavithya syndrome acquired Fanconi syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0060782 MONDO:0005570 False premalignant hematological system disease hematologic disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0060782 MONDO:0021074 False premalignant hematological system disease precancerous condition UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0060783 MONDO:0018479 False classic congenital adrenal hyperplasia congenital adrenal hyperplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0100003 MONDO:0020573 False susceptibility to angioedema induced by ACE inhibitors inherited disease susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0100004 MONDO:0004805 False mast cell activation syndrome leukocyte disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0100010 MONDO:0002081 False tendinopathy musculoskeletal system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -32286,12 +32046,12 @@ MONDO:0100014 MONDO:0005283 False autoimmune retinopathy retinal disorder UNSUPP MONDO:0100017 MONDO:0006547 False pityriasis rubra pilaris exanthem UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0100017 MONDO:0019270 False pityriasis rubra pilaris erythrokeratoderma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0100025 MONDO:0100022 False epilepsy of infancy with migrating focal seizures neonatal/infantile epilepsy syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0100036 MONDO:0005027 False variable age onset epilepsy epilepsy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0100042 MONDO:0007263 False cardiac conduction defect cardiac rhythm disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0100043 MONDO:0020573 False epidermodysplasia verruciformis, susceptibility to inherited disease susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0100044 MONDO:0008715 False acrofrontofacionasal dysostosis 1 acrofrontofacionasal dysostosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0100046 MONDO:0020573 False exfoliation syndrome, susceptibility to inherited disease susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0100048 MONDO:0020573 False graft-versus-host disease, susceptibility to inherited disease susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0100053 MONDO:0000605 False anaphylaxis hypersensitivity reaction disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0100054 MONDO:0100053 False idiopathic anaphylaxis anaphylaxis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0100054 MONDO:0700007 False idiopathic anaphylaxis idiopathic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0100058 MONDO:0019242 False hypervalinemia and hyperleucine-isoleucinemia inborn disorder of branched-chain amino acid metabolism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -32299,32 +32059,40 @@ MONDO:0100062 MONDO:0005579 False developmental and epileptic encephalopathy epi MONDO:0100062 MONDO:0100022 False developmental and epileptic encephalopathy neonatal/infantile epilepsy syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0100062 MONDO:0100038 False developmental and epileptic encephalopathy complex neurodevelopmental disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0100062 MONDO:0100500 False developmental and epileptic encephalopathy Mendelian neurodevelopmental disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0100063 MONDO:0002604 False Pericytoma with t(7;12) pericytic neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0100064 MONDO:0019219 False tyrosine hydroxylase deficiency inborn disorder of neurotransmitter metabolism and transport UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0100075 MONDO:0005315 False jaw fracture bone fracture UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0100077 MONDO:0020295 False congenital alveolar dysplasia congenital pulmonary veins anomaly UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0100081 MONDO:0005071 False sleep disorder nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0100083 MONDO:0011071 False hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 hereditary thrombocytopenia and hematologic cancer predisposition syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0100086 MONDO:0700096 False perinatal disease human disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0100095 MONDO:0006025 False neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0100095 MONDO:0024237 False neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures inherited neurodegenerative disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0100096 MONDO:0020753 False COVID-19 Orthocoronavirinae infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0100111 MONDO:0003847 False focal segmental glomerulosclerosis and neurodevelopmental syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0100115 MONDO:0020683 False acute flaccid myelitis acute disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0100116 MONDO:0005087 False Middle East respiratory syndrome respiratory system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0100116 MONDO:0020753 False Middle East respiratory syndrome Orthocoronavirinae infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0100118 MONDO:0003847 False hereditary skin disorder hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0100118 MONDO:0005093 False hereditary skin disorder skin disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0100119 MONDO:0800166 False Knobloch syndrome 2 Knobloch syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0100120 MONDO:0005550 False vector-borne disease infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0100127 MONDO:0100123 False toxic bronchiolitis obliterans toxic bronchiolitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0100128 MONDO:0005550 False coinfection infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0100129 MONDO:0008813 False intracranial arachoid cyst arachnoid cyst UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0100130 MONDO:0006502 False adult acute respiratory distress syndrome acute respiratory distress syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0100133 MONDO:0000066 False mitochondrial complex I deficiency mitochondrial complex deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0100135 MONDO:0100062 False Dravet syndrome developmental and epileptic encephalopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0100137 MONDO:0019303 False telomere syndrome premature aging syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0100147 MONDO:0000508 False SATB2 associated disorder syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0100147 MONDO:0003847 False SATB2 associated disorder hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0100151 MONDO:0006025 False nephropathic cystinosis autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0100151 MONDO:0016239 False nephropathic cystinosis cystinosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0100153 MONDO:0005071 False tubulinopathy nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0100156 MONDO:0006025 False Imerslund-Grasbeck syndrome type 1 autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0100157 MONDO:0006025 False Imerslund-Grasbeck syndrome type 2 autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0100159 MONDO:0005149 False pulmonary hypertension, neonatal pulmonary hypertension UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0100160 MONDO:0006022 False alcoholic ketoacidosis acidosis disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0100163 MONDO:0005108 False COVID-19–associated multisystem inflammatory syndrome in children viral infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0100163 MONDO:0035375 False COVID-19–associated multisystem inflammatory syndrome in children multisystem inflammatory syndrome in children and adults UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0100164 MONDO:0017688 False permanent neonatal diabetes mellitus disorder of glycolysis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0100165 MONDO:0006025 False permanent neonatal diabetes mellitus 1 autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -32335,18 +32103,25 @@ MONDO:0100172 MONDO:0001071 False intellectual disability, autosomal dominant in MONDO:0100177 MONDO:0020573 False allergic rhinitis, susceptibility to inherited disease susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0100180 MONDO:0020573 False diabetes mellitus, ketosis-prone inherited disease susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0100183 MONDO:0020573 False radioulnar synostosis, nonsyndromic, susceptibility to inherited disease susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0100184 MONDO:0045014 False GTP cyclohydrolase I deficiency tetrahydrobiopterin metabolic process disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0100185 MONDO:0005046 False immune reconstitution inflammatory syndrome immune system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0100185 MONDO:0021166 False immune reconstitution inflammatory syndrome inflammatory disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0100186 MONDO:0016543 False GTP cyclohydrolase I deficiency with hyperphenylalaninemia hyperphenylalaninemia due to tetrahydrobiopterin deficiency UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0100186 MONDO:0100184 False GTP cyclohydrolase I deficiency with hyperphenylalaninemia GTP cyclohydrolase I deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0100192 MONDO:0005154 False liver failure liver disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0100193 MONDO:0100192 False chronic liver failure liver failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0100210 MONDO:0003847 False growth hormone insensitivity syndrome with immune dysregulation hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0100210 MONDO:0015892 False growth hormone insensitivity syndrome with immune dysregulation growth hormone insensitivity syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0100211 MONDO:0005046 False growth hormone insensitivity with immune dysregulation 1, autosomal recessive immune system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0100211 MONDO:0006025 False growth hormone insensitivity with immune dysregulation 1, autosomal recessive autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0100212 MONDO:0002254 False IFAP syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0100212 MONDO:0015947 False IFAP syndrome inherited ichthyosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0100212 MONDO:0015947 False IFAP syndrome inherited ichthyosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0100213 MONDO:0020605 False IFAP syndrome 1, with or without BRESHECK syndrome X-linked recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0100214 MONDO:0003847 False Rajab interstitial lung disease with brain calcifications hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0100214 MONDO:0015925 False Rajab interstitial lung disease with brain calcifications interstitial lung disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0100215 MONDO:0006025 False Rajab interstitial lung disease with brain calcifications 1 autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0100216 MONDO:0003847 False DICER1-related tumor predisposition hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0100217 MONDO:0031632 False developmental delay with short stature, dysmorphic facial features, and sparse hair 2 developmental delay with short stature, dysmorphic facial features, and sparse hair UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0100223 MONDO:0100133 False mitochondrial complex I deficiency, nuclear type mitochondrial complex I deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0100224 MONDO:0009637 False mitochondrial complex I deficiency, nuclear type 1 inborn mitochondrial myopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0100226 MONDO:0100081 False parasomnia, sleepwalking type sleep disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0100232 MONDO:0020573 False psoriatic arthritis, susceptibility to inherited disease susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -32362,76 +32137,103 @@ MONDO:0100240 MONDO:0002305 False inherited thrombophilia thrombophilia UNSUPPOR MONDO:0100240 MONDO:0021181 False inherited thrombophilia inherited blood coagulation disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0100241 MONDO:0002049 False inherited thrombocytopenia thrombocytopenia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0100241 MONDO:0003847 False inherited thrombocytopenia hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0100242 MONDO:0020573 False glioma susceptibility inherited disease susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0100242 MONDO:0015356 False glioma susceptibility hereditary neoplastic syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0100244 MONDO:0003656 False paroxysmal nocturnal hemoglobinuria hemoglobinuria UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0100244 MONDO:0003664 False paroxysmal nocturnal hemoglobinuria hemolytic anemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0100244 MONDO:0006504 False paroxysmal nocturnal hemoglobinuria acquired metabolic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0100244 MONDO:0015610 False paroxysmal nocturnal hemoglobinuria acquired aplastic anemia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0100244 MONDO:0024321 False paroxysmal nocturnal hemoglobinuria disorder of GPI anchor biosynthesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0100246 MONDO:0020573 False migraine with or without aura, susceptibility to inherited disease susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0100247 MONDO:0003847 False multiple congenital anomalies-hypotonia-seizures syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0100247 MONDO:0015159 False multiple congenital anomalies-hypotonia-seizures syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0100249 MONDO:0017576 False 46,XX testicular disorder of sex development 46,XX disorder of sex development UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0100250 MONDO:0003847 False 46,XX sex reversal 1 hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0100251 MONDO:0002531 False familial hyperphosphatemic tumoral calcinosis/hyperphosphatemic hyperostosis syndrome skin neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0100251 MONDO:0018891 False familial hyperphosphatemic tumoral calcinosis/hyperphosphatemic hyperostosis syndrome familial tumoral calcinosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0100251 MONDO:0100118 False familial hyperphosphatemic tumoral calcinosis/hyperphosphatemic hyperostosis syndrome hereditary skin disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0100252 MONDO:0018891 False tumoral calcinosis, hyperphosphatemic, familial, 1 familial tumoral calcinosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0100253 MONDO:0006025 False Roberts-SC phocomelia syndrome autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0100253 MONDO:0019713 False Roberts-SC phocomelia syndrome non-syndromic limb reduction defect UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0100255 MONDO:0000351 False adenosine kinase deficiency disorder of methionine catabolism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0100255 MONDO:0019502 False adenosine kinase deficiency autosomal recessive non-syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS MONDO:0100280 MONDO:0019052 False Waldenstrom macroglobulinemia inborn errors of metabolism UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0100285 MONDO:0008867 False extrahepatic biliary atresia biliary atresia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0100288 MONDO:0020248 False enhanced S-cone syndrome vitreoretinal degeneration UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0100289 MONDO:0020248 False Goldmann-Favre syndrome vitreoretinal degeneration UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0100292 MONDO:0031415 False Carey-Fineman-Ziter syndrome 2 Carey-Fineman-Ziter syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0100295 MONDO:0020573 False Alzheimer disease, susceptibility to, mitochondrial inherited disease susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0100302 MONDO:0007872 False LADD syndrome 1 LADD syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0100303 MONDO:0011870 False ichthyosis, annular epidermolytic 1 annular epidermolytic ichthyosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0100309 MONDO:0003847 False hereditary ataxia hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0100309 MONDO:0100308 False hereditary ataxia atactic disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0100310 MONDO:0000437 False hereditary cerebellar ataxia cerebellar ataxia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0100310 MONDO:0100309 False hereditary cerebellar ataxia hereditary ataxia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0100313 MONDO:0000490 False focal segmental glomerulosclerosis glomerulosclerosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0100326 MONDO:0000009 False Glanzmann thrombasthenia inherited bleeding disorder, platelet-type UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0100326 MONDO:0021181 False Glanzmann thrombasthenia inherited blood coagulation disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0100327 MONDO:0019218 False hypercholanemia, familial inborn disorder of bile acid synthesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0100328 MONDO:0003847 False microcephaly, epilepsy, and diabetes syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0100338 MONDO:0002118 False urinary tract infection urinary system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0100338 MONDO:0005550 False urinary tract infection infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0100339 MONDO:0020046 False Friedreich ataxia autosomal recessive degenerative and progressive cerebellar ataxia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0100340 MONDO:0100339 False Friedreich ataxia 1 Friedreich ataxia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0100342 MONDO:0020665 False malignant glioma high grade malignant neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0100345 MONDO:0005137 False lactose intolerance nutritional disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0100345 MONDO:0020598 False lactose intolerance malabsorption syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0100347 MONDO:0002254 False carcinoid syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0100347 MONDO:0003847 False carcinoid syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0100348 MONDO:0006025 False neurodevelopmental disorder with microcephaly, impaired language, and gait abnormalities autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0100348 MONDO:0100500 False neurodevelopmental disorder with microcephaly, impaired language, and gait abnormalities Mendelian neurodevelopmental disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0100349 MONDO:0015369 False COACH syndrome Joubert syndrome and related disorders UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0100349 MONDO:0021147 False COACH syndrome disorder of development or morphogenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0100350 MONDO:0015362 False neuronopathy, distal hereditary motor, type 5 neuronopathy, distal hereditary motor, autosomal dominant UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0100367 MONDO:0019755 False port-wine nevi-mega cisterna magna-hydrocephalus syndrome developmental defect during embryogenesis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0100370 MONDO:0005344 False acute hepatitis B virus infection hepatitis B virus infection UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0100370 MONDO:0020683 False acute hepatitis B virus infection acute disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0100371 MONDO:0005231 False acute hepatitis C virus infection hepatitis C virus infection UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0100371 MONDO:0020683 False acute hepatitis C virus infection acute disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0100413 MONDO:0018874 False acute myeloid leukemia, biallelic CEBPA gene mutation acute myeloid leukemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0100428 MONDO:0008890 False progressive bulbar palsy of childhood progressive bulbar palsy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0100428 MONDO:0024537 False progressive bulbar palsy of childhood Brown-Vialetto-van Laere syndrome 1 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS +MONDO:0100429 MONDO:0019072 False intrahepatic cholestasis of pregnancy intrahepatic cholestasis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0100433 MONDO:0018795 False ACTB-associated syndromic thrombocytopenia syndromic constitutional thrombocytopenia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0100434 MONDO:0006625 False chronic mountain sickness altitude sickness UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0100435 MONDO:0009717 False Schwartz-Jampel syndrome type 1 Schwartz-Jampel syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0100440 MONDO:0020573 False Asperger syndrome, susceptibility to inherited disease susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0100450 MONDO:0020248 False CAPN5-related vitreoretinopathy vitreoretinal degeneration UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0100450 MONDO:0700115 False CAPN5-related vitreoretinopathy proliferative vitreoretinopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0100452 MONDO:0000426 False RPE65-related dominant retinopathy autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0100452 MONDO:0019118 False RPE65-related dominant retinopathy inherited retinal dystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0100457 MONDO:0003847 False achalasia, familial esophageal hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0100457 MONDO:0008698 False achalasia, familial esophageal achalasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0100459 MONDO:0005372 False azoospermia male infertility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0100460 MONDO:0020573 False tobacco addiction, susceptibility to inherited disease susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0100462 MONDO:0018383 False short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans osteonecrosis of genetic origin UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0100466 MONDO:0018973 False butterfly-shaped pigment dystrophy patterned dystrophy of the retinal pigment epithelium UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0100468 MONDO:0019952 False Batten-Turner congenital myopathy congenital myopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS MONDO:0100469 MONDO:0010528 False anosmia, isolated congenital, X-linked anosmia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0100470 MONDO:0005087 False reactive airway disease respiratory system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0100471 MONDO:0024298 False vitamin D deficiency vitamin deficiency disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0100476 MONDO:0020573 False lipodystrophy, partial, acquired, susceptibility to inherited disease susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0100478 MONDO:0003847 False brain malformations with or without urinary tract defects hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0100478 MONDO:0005560 False brain malformations with or without urinary tract defects brain disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0100481 MONDO:0018076 False active tuberculosis tuberculosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0100482 MONDO:0041806 False extensively drug-resistant tuberculosis drug-resistant tuberculosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0100486 MONDO:0011438 False adult acne acne UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0100488 MONDO:0020573 False CDH1-related diffuse gastric and lobular breast cancer syndrome inherited disease susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0100488 MONDO:0015356 False CDH1-related diffuse gastric and lobular breast cancer syndrome hereditary neoplastic syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0100489 MONDO:0000162 False Graves disease, susceptibility to, 1 autoimmune thyroid disease, susceptibility to UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0100491 MONDO:0022205 False generalized pustular psoriasis pustular psoriasis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0100492 MONDO:0002254 False Bonnevie-Ullrich syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0100505 MONDO:0002406 False food dermatitis dermatitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0100508 MONDO:0007254 False salivary gland type cancer of the breast breast cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0100510 MONDO:0005516 False spondyloepimetaphyseal dysplasia osteochondrodysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0100510 MONDO:0018230 False spondyloepimetaphyseal dysplasia skeletal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0100511 MONDO:0007263 False sudden cardiac arrest cardiac rhythm disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0100512 MONDO:0018158 False mitochondrial DNA depletion syndrome, hepatocerebral form mitochondrial DNA depletion syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0100514 MONDO:0016248 False familial ovarian carcinoma familial ovarian cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0100518 MONDO:0007743 False hereditary attention deficit-hyperactivity disorder attention deficit-hyperactivity disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0100519 MONDO:0020573 False epilepsy, idiopathic generalized, susceptibility to, 17 inherited disease susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0100522 MONDO:0018631 False hypotrichosis 4 Marie Unna hereditary hypotrichosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0100526 MONDO:0020573 False breast-ovarian cancer, familial, susceptibility to inherited disease susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0100527 MONDO:0016357 False dysplastic cortical hyperostosis, Kozlowski-Tsuruta type dysplastic cortical hyperostosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0100528 MONDO:0014805 False Hao-Fountain syndrome due to 16p13.2 microdeletion Hao-Fountain syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0100531 MONDO:0010680 False Emery-Dreifuss muscular dystrophy 1, X-linked X-linked Emery-Dreifuss muscular dystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0100532 MONDO:0020573 False blepharospasm, benign essential, susceptibility to inherited disease susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0100533 MONDO:0020573 False hemorrhage, intracerebral, susceptibility to inherited disease susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0100534 MONDO:0006260 False SMARCB1-deficient kidney medullary carcinoma kidney medullary carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0200000 MONDO:0002876 False uterine ligament adenosarcoma cervical adenosarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0400005 MONDO:0005137 False refeeding syndrome nutritional disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0600002 MONDO:0005550 False hemorrhagic fever infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -32439,21 +32241,16 @@ MONDO:0600008 MONDO:0005046 False cytokine release syndrome immune system disord MONDO:0600023 MONDO:0021167 False idiopathic inflammatory myopathy myositis disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0600024 MONDO:0600023 False familial idiopathic inflammatory myopathy idiopathic inflammatory myopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0600025 MONDO:0002156 False hydrosalpinx fallopian tube disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0600029 MONDO:0005275 False restrictive pulmonary disease lung disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0700015 MONDO:0020049 False chromosome 8 disorder autosomal anomaly UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0700032 MONDO:0018071 False complete trisomy 18 trisomy 18 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0700035 MONDO:0020639 False monosomy chromosome 8 monosomy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0700035 MONDO:0700015 False monosomy chromosome 8 chromosome 8 disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0700038 MONDO:0021179 False TDP-43 proteinopathy proteostasis deficiencies UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0700039 MONDO:0017919 False bladder exstrophy-epispadias-cloacal extrophy complex exstrophy-epispadias complex UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0700040 MONDO:0024288 False neonatal jaundice due to ABO incompatibility hyperbilirubinemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0700041 MONDO:0020573 False neuroblastoma, susceptibility to, 2 inherited disease susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0700048 MONDO:0002254 False hand-foot syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0700041 MONDO:0015356 False neuroblastoma, susceptibility to, 2 hereditary neoplastic syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0700048 MONDO:0005093 False hand-foot syndrome skin disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0700051 MONDO:0005154 False liver abscess (disease) liver disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0700051 MONDO:0005227 False liver abscess (disease) abscess UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0700051 MONDO:0043424 False liver abscess (disease) digestive system infectious disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0700052 MONDO:0005227 False intersphincteric abscess abscess UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0700058 MONDO:0002173 False Morton neuroma neuroma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0700060 MONDO:0000425 False leukemia, acute, X-linked X-linked disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0700060 MONDO:0010643 False leukemia, acute, X-linked acute leukemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0700064 MONDO:0019040 False aneuploidy chromosomal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -32462,18 +32259,15 @@ MONDO:0700077 MONDO:0020573 False vitiligo-associated multiple autoimmune diseas MONDO:0700078 MONDO:0000615 False triple-positive breast carcinoma progesterone-receptor positive breast cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0700078 MONDO:0006244 False triple-positive breast carcinoma HER2 positive breast carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0700078 MONDO:0006512 False triple-positive breast carcinoma estrogen-receptor positive breast cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0700079 MONDO:0000615 False hormone receptor-positive breast cancer progesterone-receptor positive breast cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0700079 MONDO:0000618 False hormone receptor-positive breast cancer Her2-receptor negative breast cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0700079 MONDO:0006512 False hormone receptor-positive breast cancer estrogen-receptor positive breast cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0700081 MONDO:0017015 False newborn respiratory distress syndrome primary interstitial lung disease specific to childhood UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0700081 MONDO:0100131 False newborn respiratory distress syndrome pediatric acute respiratory distress syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0700082 MONDO:0700128 False Robertsonian translocation Down syndrome translocation Down syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0700086 MONDO:0019040 False uniparental disomy chromosomal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0700087 MONDO:0010168 False Usher syndrome type 1B Usher syndrome type 1 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0700088 MONDO:0015427 False paroxysmal nonkinesigenic dyskinesia paroxysmal dyskinesia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0700089 MONDO:0700088 False paroxysmal nonkinesigenic dyskinesia 1 paroxysmal nonkinesigenic dyskinesia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0700090 MONDO:0010898 False epilepsy, familial temporal lobe, 1 autosomal dominant epilepsy with auditory features UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0700091 MONDO:0019040 False ring chromosome disorder chromosomal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0700092 MONDO:0005071 False neurodevelopmental disorder nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0700107 MONDO:0013090 False chromosome 19q13.11 deletion syndrome, distal chromosome 19q13.11 deletion syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0700115 MONDO:0005283 False proliferative vitreoretinopathy retinal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0700134 MONDO:0024913 False bovine neoplasm cattle disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -32493,7 +32287,7 @@ MONDO:0700143 MONDO:1011303 False canine mammary carcinoma mammary gland disorde MONDO:0700144 MONDO:0700100 False canine leukemia leukemia, non-human animal UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0700145 MONDO:0700102 False canine lymphoma lymphoma, non-human animal UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0700146 MONDO:0700101 False canine prostate carcinoma carcinoma, non-human animal UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0700146 MONDO:1010223 False canine prostate carcinoma prostate cancer, non-human animal UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0700146 MONDO:1010961 False canine prostate carcinoma prostate cancer, dog UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0700147 MONDO:1011319 False canine histiocytic sarcoma hematologic disorder, non-human animal UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0700148 MONDO:0700101 False canine transitional cell carcinoma carcinoma, non-human animal UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0700149 MONDO:0700131 False canine sarcoma sarcoma, non-human animal UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -32578,49 +32372,69 @@ MONDO:0700199 MONDO:0024985 False sheep lung adenocarcinoma sheep disease UNSUPP MONDO:0700199 MONDO:0700099 False sheep lung adenocarcinoma adenocarcinoma, non-human animal UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0700199 MONDO:0700104 False sheep lung adenocarcinoma respiratory system disorder, non-human animal UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0700207 MONDO:0021147 False constitutional delay of growth and puberty disorder of development or morphogenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0700218 MONDO:0021680 False group B streptococcal infection streptococcal infection UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0700220 MONDO:0700096 False disease related to transplantation human disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0700225 MONDO:0003847 False hereditary gallbladder disorder hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0700225 MONDO:0005281 False hereditary gallbladder disorder gallbladder disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0700226 MONDO:0005271 False food allergy allergic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0800001 MONDO:0020573 False delayed sleep phase syndrome, susceptibility to inherited disease susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0800026 MONDO:0002254 False central hypoventilation syndrome, congenital, 1, with or without Hirschsprung disease syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0800026 MONDO:0001292 False central hypoventilation syndrome, congenital, 1, with or without Hirschsprung disease autonomic nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0800026 MONDO:0002320 False central hypoventilation syndrome, congenital, 1, with or without Hirschsprung disease congenital nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0800026 MONDO:0021635 False central hypoventilation syndrome, congenital, 1, with or without Hirschsprung disease neurocristopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0800027 MONDO:0019046 False leukoencephalopathy, diffuse hereditary, with spheroids 1 leukodystrophy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS MONDO:0800028 MONDO:0005395 False dyskinesia with orofacial involvement, autosomal dominant movement disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0800029 MONDO:0002429 False interstitial lung disease 2 idiopathic interstitial pneumonia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0800029 MONDO:0100137 False interstitial lung disease 2 telomere syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0800030 MONDO:0002254 False gastrointestinal defects and immunodeficiency syndrome 1 syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0800031 MONDO:0003847 False central hypoventilation syndrome, congenital hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0800042 MONDO:0015160 False restrictive dermopathy 1 multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0800042 MONDO:0021106 False restrictive dermopathy 1 laminopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0800043 MONDO:0009717 False Stüve-Wiedemann syndrome 1 Schwartz-Jampel syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0800043 MONDO:0019698 False Stüve-Wiedemann syndrome 1 bent bone dysplasia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0800044 MONDO:0019214 False congenital disorder of deglycosylation 1 inborn carbohydrate metabolic disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0800044 MONDO:0045010 False congenital disorder of deglycosylation 1 glycoprotein metabolism disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0800046 MONDO:0016412 False thyroid hormone metabolism, abnormal 1 peripheral hypothyroidism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0800047 MONDO:0015372 False macrothrombocytopenia, isolated, 1, autosomal dominant autosomal dominant macrothrombocytopenia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0800088 MONDO:0018230 False lysosomal storage disease with skeletal involvement skeletal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0800103 MONDO:0100349 False COACH syndrome 1 COACH syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0800104 MONDO:0031520 False immunodeficiency 105 familial severe combined immunodeficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0800105 MONDO:0002025 False catatonia psychiatric disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0800106 MONDO:0005084 False disruptive behavior disorder mental disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0800107 MONDO:0002070 False anterior deviation infundibular septum ventricular septal defect UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0800108 MONDO:0000471 False cleft leaflet of tricuspid valve tricuspid valve disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0800113 MONDO:0018882 False necrotizing vasculitis vasculitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0800129 MONDO:0019751 False autoinflammatory disease, X-linked autoinflammatory syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0800130 MONDO:0019751 False autoinflammatory syndrome with immunodeficiency autoinflammatory syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0800131 MONDO:0018037 False hyper-IgE recurrent infection syndrome 4A, autosomal dominant hyper-IgE syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0800132 MONDO:0003847 False autoinflammatory-pancytopenia syndrome due to DNASE2 deficiency hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0800133 MONDO:0005087 False pulmonary hypoplasia respiratory system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0800166 MONDO:0020248 False Knobloch syndrome vitreoretinal degeneration UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0800167 MONDO:0800166 False Knobloch syndrome 1 Knobloch syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0800175 MONDO:0005267 False cardiogenic shock heart disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0800176 MONDO:0029000 False black widow spider envenomation poisoning UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0800177 MONDO:0021178 False frostbite injury UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0800187 MONDO:0800174 False immunodeficiency 83, susceptibility to viral infections encephalitis, acute, infection-induced, susceptibility to UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0800188 MONDO:0020573 False malignant hyperthermia, susceptibility to inherited disease susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0800198 MONDO:0003847 False alopecia universalis hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0800198 MONDO:0004907 False alopecia universalis alopecia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0800307 MONDO:0018230 False de la Chapelle dysplasia skeletal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0800318 MONDO:0010680 False Emery-Dreifuss muscular dystrophy 6, X-linked X-linked Emery-Dreifuss muscular dystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0800341 MONDO:0019952 False congenital myopathy 4A, autosomal dominant congenital myopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0800366 MONDO:0015780 False dyskeratosis congenita, autosomal dominant 4 dyskeratosis congenita UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0800368 MONDO:0016333 False cardiomyopathy, dilated, 1MM familial dilated cardiomyopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0800372 MONDO:0018772 False Joubert syndrome 29 Joubert syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0800436 MONDO:0031329 False craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development 1 craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS +MONDO:0800437 MONDO:0031415 False Carey-Fineman-Ziter syndrome 1 Carey-Fineman-Ziter syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0800438 MONDO:0031632 False developmental delay with short stature, dysmorphic facial features, and sparse hair 1 developmental delay with short stature, dysmorphic facial features, and sparse hair UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0800444 MONDO:0000426 False Birt-Hogg-Dube syndrome autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0800444 MONDO:0002254 False Birt-Hogg-Dube syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0800445 MONDO:0800444 False Birt-Hogg-Dube syndrome 1 Birt-Hogg-Dube syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0800446 MONDO:0000009 False bleeding diathesis due to thromboxane synthesis deficiency inherited bleeding disorder, platelet-type UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0800447 MONDO:0020573 False bleeding disorder, platelet-type, 13, susceptibility to inherited disease susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0800449 MONDO:0015905 False lysosomal acid lipase deficiency syndromic dyslipidemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0800448 MONDO:0019046 False leukoencephalopathy with vanishing white matter leukodystrophy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS +MONDO:0800449 MONDO:0015905 False lysosomal acid lipase deficiency syndromic dyslipidemia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0800449 MONDO:0019245 False lysosomal acid lipase deficiency lysosomal lipid storage disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0800450 MONDO:0003847 False microcephaly, short stature, and impaired glucose metabolism hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0800455 MONDO:0800444 False Birt-Hogg-Dube syndrome 2 Birt-Hogg-Dube syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0800486 MONDO:0005381 False metabolic bone disorder bone disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0810000 MONDO:0005328 False choroidal neovascularization eye disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0850001 MONDO:0016295 False congenital neuronal ceroid lipofuscinosis neuronal ceroid lipofuscinosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0850007 MONDO:0001854 False syndromic lacrimal system disorder lacrimal apparatus disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0850008 MONDO:0005328 False anterior segment developmental abnormality with extraocular manifestations eye disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0850009 MONDO:0002254 False syndromic microspherophakia syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -32633,46 +32447,206 @@ MONDO:0850046 MONDO:0024575 False amniotic fluid embolism pregnancy disorder UNS MONDO:0850048 MONDO:0023076 False classic eosinophilic pustular folliculitis eosinophilic pustular folliculitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0850049 MONDO:0002254 False painful legs and moving toes syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0850050 MONDO:0002254 False congenital aphakia-iris hypoplasia-microphthalmia-microcornea syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0850053 MONDO:0019751 False F12-associated cold autoinflammatory syndrome autoinflammatory syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0850054 MONDO:0002243 False hemophilia B leyden hemorrhagic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0850058 MONDO:0001982 False chronic neurovisceral acid sphingomyelinase deficiency Niemann-Pick disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0850059 MONDO:0002254 False hereditary persistence of fetal hemoglobin-intellectual disability syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0850064 MONDO:0015356 False inherited hematologic cancer-predisposing syndrome hereditary neoplastic syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0850065 MONDO:0019751 False neonatal-onset severe multisystemic autoinflammatory disease with increased IL18 autoinflammatory syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0850066 MONDO:0019751 False SAMD9L-associated autoinflammatory syndrome autoinflammatory syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0850067 MONDO:0009453 False immune deficiency due to impaired neutrophil phagocytosis and migration immune deficiency disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0850068 MONDO:0005046 False early-onset autoimmunity-autoinflammation-immunodeficiency syndrome immune system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0850069 MONDO:0020083 False familial hyperinflammatory lymphoproliferative immunodeficiency immunodeficiency-associated lymphoproliferative disease UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0850070 MONDO:0005046 False CADINS disease immune system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0850071 MONDO:0002254 False developmental delay-immunodeficiency-leukoencephalopathy-hypohomocysteinemia syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0850072 MONDO:0015337 False non-syndromic unisutural craniosynostosis isolated craniosynostosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0850073 MONDO:0015469 False non-syndromic unicoronal craniosynostosis craniosynostosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0850074 MONDO:0015469 False non-syndromic unilambdoid craniosynostosis craniosynostosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0850075 MONDO:0015469 False non-syndromic unifrontosphenoidal craniosynostosis craniosynostosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0850076 MONDO:0015469 False non-syndromic unisquamosal craniosynostosis craniosynostosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0850077 MONDO:0015469 False non-syndromic multisutural craniosynostosis craniosynostosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0850078 MONDO:0015469 False non-syndromic non-specific multisutural craniosynostosis craniosynostosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0850079 MONDO:0015469 False non-syndromic bilambdoid craniosynostosis craniosynostosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0850080 MONDO:0015469 False non-syndromic unicoronal and sagittal craniosynostosis craniosynostosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0850081 MONDO:0015469 False non-syndromic metopic and sagittal craniosynostosis craniosynostosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0850082 MONDO:0015469 False non-syndromic bicoronal and metopic craniosynostosis craniosynostosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0850083 MONDO:0015469 False non-syndromic bicoronal and sagittal craniosynostosis craniosynostosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0850084 MONDO:0001411 False non-syndromic pansynostosis synostosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0850087 MONDO:0002254 False primary hypomagnesemia-generalized seizures-intellectual disability-obesity syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0850088 MONDO:0018100 False EGF-related primary hypomagnesemia with intellectual disability familial primary hypomagnesemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0850089 MONDO:0100191 False Gitelman-like kidney tubulopathy due to mitochondrial DNA mutation inherited kidney disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0850090 MONDO:0002254 False fibrosis-neurodegeneration-cerebral angiomatosis syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0850092 MONDO:0002254 False post-cardiac arrest syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0850093 MONDO:0000411 False absence epilepsy electroclinical syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0850094 MONDO:0005365 False drug-induced hearing loss hearing loss disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0850095 MONDO:0005561 False X-linked severe syndromic thoracic aortic aneurysm and dissection aortic disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0850096 MONDO:0016763 False SBDS-related severe neonatal spondylometaphyseal dysplasia spondylometaphyseal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0850097 MONDO:0015588 False autoimmune limbic encephalitis limbic encephalitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0850097 MONDO:0020640 False autoimmune limbic encephalitis autoimmune encephalitis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0850098 MONDO:0005372 False oligoasthenoteratozoospermia male infertility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0850099 MONDO:0016761 False MIR140-related spondyloepiphyseal dysplasia spondyloepiphyseal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0850100 MONDO:0002025 False body integrity dysphoria psychiatric disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0850101 MONDO:0005012 False spitzoid melanoma cutaneous melanoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0850102 MONDO:0007179 False non-specific autoimmune supratentorial encephalitis with characteristic antibodies autoimmune disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0850103 MONDO:0007179 False non-specific autoimmune supratentorial encephalitis without characteristic antibodies autoimmune disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0850104 MONDO:0019956 False paraneoplastic isolated brainstem encephalitis encephalitis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0850105 MONDO:0007179 False non-specific autoimmune brainstem encephalitis with characteristic antibodies autoimmune disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0850106 MONDO:0007179 False non-specific autoimmune brainstem encephalitis without characteristic antibodies autoimmune disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0850107 MONDO:0020010 False postinfectious cerebellitis infectious disorder of the nervous system UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0850108 MONDO:0007179 False non-specific autoimmune cerebellar ataxia with characteristic antibodies autoimmune disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0850109 MONDO:0007179 False non-specific autoimmune cerebellar ataxia without characteristic antibodies autoimmune disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0850110 MONDO:0005012 False melanoma in congenital melanocytic nevus cutaneous melanoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0850112 MONDO:0000430 False breast implant-associated anaplastic large cell lymphoma mature T-cell and NK-cell non-Hodgkin lymphoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0850115 MONDO:0002254 False early-onset obesity-hyperphagia-severe developmental delay syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0850122 MONDO:0005061 False solid adenocarcinoma with mucin production lung adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0850123 MONDO:0056804 False autonomic nervous system benign neoplasm benign neoplasm of peripheral nervous system UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0850125 MONDO:0004992 False malignant adenoma cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0850126 MONDO:0003125 False testicular sex cord-stromal benign neoplasm testicular sex cord-stromal neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0850127 MONDO:0015798 False epithelioid inflammatory myofibroblastic sarcoma inflammatory myofibroblastic tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0850128 MONDO:0003150 False epididymis disease male reproductive system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0850129 MONDO:0002516 False gastroesophageal cancer digestive system cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0850130 MONDO:0004970 False gastroesophageal adenocarcinoma adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0850144 MONDO:0005040 False germ cell benign neoplasm germ cell tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0850144 MONDO:0005165 False germ cell benign neoplasm benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0850149 MONDO:0002513 False nephroma kidney benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0850150 MONDO:0005240 False kidney cortex disease kidney disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0850151 MONDO:0001082 False lymph node carcinoma lymph node cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0850151 MONDO:0004993 False lymph node carcinoma carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0850152 MONDO:0000633 False auditory system benign neoplasm sensory organ benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0850152 MONDO:0002409 False auditory system benign neoplasm auditory system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0850154 MONDO:0004631 False tongue carcinoma tongue cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0850154 MONDO:0044925 False tongue carcinoma oral cavity carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0850156 MONDO:0004947 False B-lymphoblastic leukemia/lymphoma MLL rearranged B-cell acute lymphoblastic leukemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0850157 MONDO:0004947 False B-lymphoblastic leukemia/lymphoma with ETV6-RUNX1 B-cell acute lymphoblastic leukemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0850160 MONDO:0004947 False B-lymphoblastic leukemia/lymphoma with IL3-IGH B-cell acute lymphoblastic leukemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0850161 MONDO:0004947 False B-lymphoblastic leukemia/lymphoma, BCR-ABL1–like B-cell acute lymphoblastic leukemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0850162 MONDO:0004947 False B-lymphoblastic leukemia/lymphoma with IAMP21 B-cell acute lymphoblastic leukemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0850170 MONDO:0001516 False spinal muscular atrophy type 0 spinal muscular atrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0850196 MONDO:0007959 False medulloblastoma WNT activated medulloblastoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0850197 MONDO:0007959 False medulloblastoma SHH activated medulloblastoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0850198 MONDO:0007959 False medulloblastoma non-WNT/non-SHH medulloblastoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0850199 MONDO:0003778 False NK cell deficiency inborn error of immunity UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0850200 MONDO:0003778 False T cell and NK cell immunodeficiency inborn error of immunity UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0850201 MONDO:0002254 False hereditary alpha tryptasemia syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0850223 MONDO:0000603 False Libman-Sacks endocarditis autoimmune disorder of cardiovascular system UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0850223 MONDO:0005025 False Libman-Sacks endocarditis endocarditis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0850225 MONDO:0004789 False autoimmune cholangitis cholangitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0850225 MONDO:0016264 False autoimmune cholangitis autoimmune hepatitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0850230 MONDO:0005492 False chronic urticaria urticaria UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0850231 MONDO:0006591 False erythema nodosum panniculitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0850257 MONDO:0004957 False mucinous pancreas adenocarcinoma mucinous adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0850257 MONDO:0006047 False mucinous pancreas adenocarcinoma pancreatic adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0850267 MONDO:0018872 False childhood acute megakaryoblastic leukemia acute megakaryoblastic leukemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0850269 MONDO:0018874 False core binding factor acute myeloid leukemia acute myeloid leukemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0850271 MONDO:0018872 False myeloid leukemia associated with down syndrome acute megakaryoblastic leukemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0850273 MONDO:0000521 False salivary gland mucinous adenocarcinoma salivary gland carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0850273 MONDO:0004957 False salivary gland mucinous adenocarcinoma mucinous adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0850281 MONDO:0000521 False mammary analog secretory carcinoma salivary gland carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0850282 MONDO:0004979 False chronic asthma asthma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0850283 MONDO:0004979 False acute asthma asthma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0850284 MONDO:0850282 False extrinsic asthma chronic asthma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0850285 MONDO:0004765 False environmental induced asthma intrinsic asthma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0850286 MONDO:0004765 False exercise-induced bronchoconstriction intrinsic asthma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0850287 MONDO:0004765 False aspirin-induced respiratory disease intrinsic asthma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0850289 MONDO:0005108 False human betaherpesvirus 5 infectious disease viral infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0850292 MONDO:0002039 False subjective cognitive decline cognitive disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0850295 MONDO:0004382 False acquired laryngomalacia laryngeal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0850301 MONDO:0019337 False pemphigoid autoimmune bullous skin disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0850302 MONDO:0016642 False intracranial meningioma meningioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0850303 MONDO:0016642 False supratentorial meningioma meningioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0850306 MONDO:0005147 False latent autoimmune diabetes in adults type 1 diabetes mellitus UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0850312 MONDO:0021636 False anaplastic pleomorphic xanthoastrocytoma astrocytic tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0850332 MONDO:0016684 False IDH-mutant anaplastic astrocytoma anaplastic astrocytoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0850333 MONDO:0016684 False IDH-wildtype anaplastic astrocytoma anaplastic astrocytoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0850335 MONDO:0018177 False IDH-wildtype glioblastoma glioblastoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0850338 MONDO:0003473 False spinal ependymoma, MYCN-amplified spinal cord ependymoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0850339 MONDO:0016700 False posterior fossa ependymoma anaplastic ependymoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0850340 MONDO:0016700 False supratentorial ependymoma anaplastic ependymoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0850345 MONDO:0003573 False lung pleomorphic carcinoma pleomorphic carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0850345 MONDO:0006279 False lung pleomorphic carcinoma lung sarcomatoid carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0850346 MONDO:0005212 False oral rhabdomyosarcoma rhabdomyosarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0850346 MONDO:0005515 False oral rhabdomyosarcoma oral cavity cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0850347 MONDO:0002837 False bladder sarcomatoid transitional cell carcinoma sarcomatoid transitional cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0850347 MONDO:0005611 False bladder sarcomatoid transitional cell carcinoma bladder transitional cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0850348 MONDO:0004986 False bladder small cell carcinoma urinary bladder carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0850349 MONDO:0016707 False astroblastoma, MN1-altered astroblastoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0850353 MONDO:0005159 False castration-resistant prostate carcinoma prostate carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0850368 MONDO:0019065 False immunoglobulin heavy-and-light chain amyloidosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0850371 MONDO:0005010 False nonobstructive coronary artery disease coronary artery disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0850388 MONDO:0004378 False childhood supratentorial embryonal tumor with multilayered rosettes, C19MC-altered pediatric cerebral ependymoblastoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0850415 MONDO:0100150 False rhabdomyolysis-myalgia syndrome RYR1-related myopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0850416 MONDO:0000568 False autoimmune epilepsy autoimmune disorder of central nervous system UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0850416 MONDO:0005027 False autoimmune epilepsy epilepsy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0850417 MONDO:0018076 False tuberculous encephalopathy tuberculosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0850418 MONDO:0018905 False diffuse large B-cell lymphoma activated B-cell type diffuse large B-cell lymphoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0850419 MONDO:0018905 False diffuse large B-cell lymphoma germinal center B-cell type diffuse large B-cell lymphoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0850420 MONDO:0006515 False acute necrotizing pancreatitis acute pancreatitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0850421 MONDO:0006515 False acute hemorrhagic pancreatitis acute pancreatitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0850426 MONDO:0004095 False high-grade B-cell lymphoma double-hit/triple-hit B-cell neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0850445 MONDO:0000650 False benign peritoneal solitary fibrous tumor peritoneal benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0850449 MONDO:0020322 False mixed phenotype acute leukemia with BCR-ABL1 acute biphenotypic leukemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0850450 MONDO:0020322 False mixed phenotype acute leukemia with MLL rearranged acute biphenotypic leukemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0850451 MONDO:0020322 False mixed phenotype acute leukemia, B/myeloid acute biphenotypic leukemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0850452 MONDO:0020322 False mixed phenotype acute leukemia,T/myeloid acute biphenotypic leukemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0850459 MONDO:0000607 False primary cutaneous gamma-delta t-cell lymphoma primary cutaneous T-cell non-Hodgkin lymphoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0850461 MONDO:0000408 False neurobehavioral disorder with prenatal alcohol exposure fetal alcohol spectrum disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0850468 MONDO:0018905 False BN2 diffuse large B-cell lymphoma diffuse large B-cell lymphoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0850469 MONDO:0018905 False EZB diffuse large B-cell lymphoma diffuse large B-cell lymphoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0850470 MONDO:0018905 False MCD diffuse large B-cell lymphoma diffuse large B-cell lymphoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0850471 MONDO:0018905 False N1 diffuse large B-cell lymphoma diffuse large B-cell lymphoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0850472 MONDO:0018905 False ST2 diffuse large B-cell lymphoma diffuse large B-cell lymphoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0850473 MONDO:0018905 False A53 diffuse large B-cell lymphoma diffuse large B-cell lymphoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0850492 MONDO:0018874 False acute myeloid leukemia, t(8;21)(q22; q22.1) acute myeloid leukemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0850495 MONDO:0018874 False acute myeloid leukemia, t(1;22)(p13;q13) acute myeloid leukemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0850514 MONDO:0000426 False inclusion body myopathy and brain white matter abnormalities autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0850514 MONDO:0000507 False inclusion body myopathy and brain white matter abnormalities inclusion body myopathy with Paget disease of bone and frontotemporal dementia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS +MONDO:0850519 MONDO:0004736 False tetrahydrobiopterin (BH4)-deficient hyperphenylalaninemia inborn disorder of amino acid metabolism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0850618 MONDO:0005119 False injection anthrax anthrax infection UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0850812 MONDO:0003778 False dendritic cell deficiency inborn error of immunity UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0851095 MONDO:0000426 False KINSSHIP syndrome autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0851095 MONDO:0002254 False KINSSHIP syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0851100 MONDO:0002433 False malignant olfactory nerve neoplasm malignant cranial nerve neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0851102 MONDO:0000473 False pulmonary artery disease arterial disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0851102 MONDO:0005275 False pulmonary artery disease lung disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0851103 MONDO:0002263 False Bartholin's gland disease female reproductive system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0851105 MONDO:0000629 False cerebrovascular benign neoplasm cardiovascular organ benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0858910 MONDO:0000812 False dropped head syndrome vertebral column disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0858916 MONDO:0002109 False pituitary blastoma pituitary cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0858916 MONDO:0005565 False pituitary blastoma blastoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0858917 MONDO:0003164 False cauda equina neuroendocrine tumor cauda equina neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0858926 MONDO:0002254 False developmental delay, hypotrophy, and dysmorphic features without moebius syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0858939 MONDO:0100342 False diffuse pediatric-type high-grade glioma, H3-wildtype and IDH-wildtype malignant glioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0858940 MONDO:0021636 False infant-type hemispheric glioma astrocytic tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0858944 MONDO:0000628 False myxoid glioneuronal tumor central nervous system organ benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0858950 MONDO:0043510 False traumatic brain injury brain injury UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0858956 MONDO:0000628 False diffuse leptomeningeal glioneuronal tumor central nervous system organ benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0858957 MONDO:0000628 False multinodular and vacuolating neuronal tumor central nervous system organ benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0858958 MONDO:0016684 False high-grade astrocytoma with piloid features anaplastic astrocytoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0858959 MONDO:0000628 False polymorphous low grade neuroepithelial tumor of the young central nervous system organ benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0858960 MONDO:0003257 False spindle cell oncocytoma posterior pituitary gland neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0858966 MONDO:0000640 False central nervous system tumor with bcor internal tandem duplication central nervous system primitive neuroectodermal neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0858967 MONDO:0002216 False primary intracranial sarcoma, DICER1-mutant brain sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0858974 MONDO:0002254 False breast implant illness syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0858974 MONDO:0002657 False breast implant illness breast disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0858989 MONDO:0015150 False autosomal recessive spastic paraplegia type 84 complex hereditary spastic paraplegia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0858990 MONDO:0015150 False autosomal recessive spastic paraplegia type 85 complex hereditary spastic paraplegia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0858991 MONDO:0015150 False autosomal recessive spastic paraplegia type 86 complex hereditary spastic paraplegia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0858992 MONDO:0019064 False autosomal recessive spastic paraplegia type 87 hereditary spastic paraplegia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0858997 MONDO:0004992 False cancer of unknown primary site cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0858998 MONDO:0015159 False mesomelic dysplasia-digital anomalies-intellectual disability syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0858998 MONDO:0018230 False mesomelic dysplasia-digital anomalies-intellectual disability syndrome skeletal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0858999 MONDO:0015159 False KDM3B-related intellectual disability-facial dysmorphism-short stature syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0859000 MONDO:0015159 False SLC12A2-related developmental delay-intellectual disability-sensorineural deafness syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0859001 MONDO:0018354 False CPE-related Prader-Willi-like syndrome Prader-Willi-like syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0859002 MONDO:0015159 False intellectual disability-early-onset cataract-microcephaly syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0859003 MONDO:0019236 False PAICS deficiency inborn disorder of purine metabolism UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0859004 MONDO:0002041 False invasive scopulariopsis infection fungal infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0859005 MONDO:0018234 False preaxial digit brachydactyly-webbed fingers dysostosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0859005 MONDO:0021004 False preaxial digit brachydactyly-webbed fingers brachydactyly UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0859006 MONDO:0018230 False proximal femoral focal deficiency skeletal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0859006 MONDO:0018234 False proximal femoral focal deficiency dysostosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0859007 MONDO:0019289 False mosaic Legius syndrome hyperpigmentation of the skin UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0859008 MONDO:0015356 False neurofibromatosis/schwannomatosis hereditary neoplastic syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0859046 MONDO:0005212 False rhabdomyosarcoma, embryonal, 2 rhabdomyosarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0859050 MONDO:0020573 False Schistosoma mansoni infection, susceptibility/resistance to inherited disease susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0859080 MONDO:0020119 False intellectual developmental disorder, X-linked, syndromic, with pigmentary mosaicism and coarse facies X-linked syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING @@ -32680,6 +32654,7 @@ MONDO:0859081 MONDO:0019040 False chromosome Xq13 duplication syndrome chromosom MONDO:0859082 MONDO:0100240 False thrombophilia, X-linked, due to factor 8 defect inherited thrombophilia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0859083 MONDO:0007915 False systemic lupus erythematosus 17 systemic lupus erythematosus UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0859085 MONDO:0700092 False neurodevelopmental disorder with gait disturbance, dysmorphic facies, and behavioral abnormalities, X-linked neurodevelopmental disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0859086 MONDO:0019181 False intellectual developmental disorder, X-linked 110 non-syndromic X-linked intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0859136 MONDO:0700092 False Alzahrani-Kuwahara syndrome neurodevelopmental disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0859137 MONDO:0700092 False neurodevelopmental disorder with spasticity, cataracts, and cerebellar hypoplasia neurodevelopmental disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0859139 MONDO:0003847 False blepharophimosis-impaired intellectual development syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -32701,6 +32676,7 @@ MONDO:0859156 MONDO:0018234 False dysostosis multiplex, Ain-Naz type dysostosis MONDO:0859157 MONDO:0016829 False visceral myopathy 2 familial visceral myopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0859158 MONDO:0003847 False ataxia, intention tremor, and hypotonia syndrome, childhood-onset hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0859159 MONDO:0003847 False deafness, cataract, impaired intellectual development, and polyneuropathy hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0859160 MONDO:0033885 False Mitochondrial complex IV deficiency, nuclear type 22 mitochondrial complex IV deficiency, nuclear-type UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0859161 MONDO:0003847 False onychodystrophy, osteodystrophy, impaired intellectual development, and seizures syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0859162 MONDO:0700092 False neurodevelopmental disorder with infantile epileptic spasms neurodevelopmental disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0859163 MONDO:0003847 False Faundes-Banka syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -32711,6 +32687,7 @@ MONDO:0859167 MONDO:0003847 False hypokalemic tubulopathy and deafness hereditar MONDO:0859168 MONDO:0018943 False myopathy, myofibrillar, 12, infantile-onset, with cardiomyopathy myofibrillar myopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0859169 MONDO:0003847 False White-Kernohan syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0859170 MONDO:0003847 False retinal dystrophy and microvillus inclusion disease hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0859171 MONDO:0003847 False Luo-Schoch-Yamamoto syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0859172 MONDO:0003664 False hemolytic disease of fetus and newborn, RH-induced hemolytic anemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0859173 MONDO:0012061 False sick sinus syndrome 4 familial sick sinus syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0859174 MONDO:0003847 False Usmani-Riazuddin syndrome, autosomal dominant hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -32731,10 +32708,12 @@ MONDO:0859188 MONDO:0700092 False neurodevelopmental disorder with seizures and MONDO:0859189 MONDO:0003847 False muscular dystrophy, congenital hearing loss, and ovarian insufficiency syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0859190 MONDO:0003847 False neurodevelopmental-craniofacial syndrome with variable renal and cardiac abnormalities hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0859191 MONDO:0003847 False biliary, renal, neurologic, and skeletal syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0859192 MONDO:0031037 False cerebral cavernous malformation 4 famililal cerebral cavernous malformations UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0859193 MONDO:0005071 False neuroocular syndrome nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0859193 MONDO:0005328 False neuroocular syndrome eye disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0859194 MONDO:0003847 False Boudin-Mortier syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0859196 MONDO:0003847 False Usmani-Riazuddin syndrome, autosomal recessive hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0859197 MONDO:0003847 False intellectual developmental disorder with hypotonia, impaired speech, and dysmorphic facies hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0859198 MONDO:0003847 False short stature, impaired intellectual development, microcephaly, hypotonia, and ocular anomalies hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0859199 MONDO:0003847 False developmental delay with or without intellectual impairment or behavioral abnormalities hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0859200 MONDO:0003847 False cerebellar ataxia, brain abnormalities, and cardiac conduction defects hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -32746,6 +32725,7 @@ MONDO:0859205 MONDO:0002263 False delayed puberty, self-limited female reproduct MONDO:0859205 MONDO:0003847 False delayed puberty, self-limited hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0859206 MONDO:0700092 False neurodevelopmental disorder with hearing loss and spasticity neurodevelopmental disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0859207 MONDO:0700092 False neurodevelopmental disorder with hypotonia and gross motor and speech delay neurodevelopmental disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0859208 MONDO:0003847 False Hengel-Maroofian-Schols syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0859209 MONDO:0003847 False Zaki syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0859210 MONDO:0019040 False chromosome 16q12 duplication syndrome chromosomal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0859211 MONDO:0700092 False neurodevelopmental disorder with hyperkinetic movements and dyskinesia neurodevelopmental disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -32764,19 +32744,24 @@ MONDO:0859223 MONDO:0015286 False congenital disorder of glycosylation, type Iw, MONDO:0859224 MONDO:0003847 False intellectual disability and myopathy syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0859225 MONDO:0700092 False neurodevelopmental disorder with or without variable movement or behavioral abnormalities neurodevelopmental disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0859226 MONDO:0018230 False craniotubular dysplasia, Ikegawa type skeletal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0859228 MONDO:0000732 False combined oxidative phosphorylation deficiency 55 combined oxidative phosphorylation deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0859229 MONDO:0003847 False cerebellar dysfunction, impaired intellectual development, and hypogonadotropic hypogonadism hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0859230 MONDO:0003847 False Kury-Isidor syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0859231 MONDO:0003847 False macrocephaly, neurodevelopmental delay, lymphoid hyperplasia, and persistent fetal hemoglobin hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0859232 MONDO:0700092 False neurodevelopmental disorder with central hypotonia and dysmorphic facies neurodevelopmental disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0859233 MONDO:0017612 False epidermolysis bullosa, junctional 6, with pyloric atresia junctional epidermolysis bullosa UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0859234 MONDO:0015977 False agammaglobulinemia 8b, autosomal recessive agammaglobulinemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS MONDO:0859235 MONDO:0021944 False auditory neuropathy, autosomal dominant 3 auditory neuropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0859236 MONDO:0700092 False neurodevelopmental disorder with neuromuscular and skeletal abnormalities neurodevelopmental disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0859237 MONDO:0017359 False 3-methylglutaconic aciduria, type VIIA 3-methylglutaconic aciduria UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS MONDO:0859238 MONDO:0032766 False hypoalphalipoproteinemia, primary, 2, intermediate hypoalphalipoproteinemia, primary, 2 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0859239 MONDO:0700092 False Chilton-Okur-Chung neurodevelopmental syndrome neurodevelopmental disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0859240 MONDO:0003847 False intellectual developmental disorder with or without peripheral neuropathy hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0859241 MONDO:0005559 False neurodegeneration, childhood-onset, with progressive microcephaly neurodegenerative disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0859242 MONDO:0019046 False leukodystrophy, hypomyelinating, 24 leukodystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS MONDO:0859243 MONDO:0700092 False neurodevelopmental disorder with hypotonia, impaired speech, and behavioral abnormalities neurodevelopmental disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0859244 MONDO:0003847 False phosphoribosylaminoimidazole carboxylase deficiency hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0859245 MONDO:0015244 False spinocerebellar ataxia, autosomal recessive 32 autosomal recessive cerebellar ataxia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS MONDO:0859246 MONDO:0019046 False leukodystrophy, childhood-onset, remitting leukodystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0859247 MONDO:0003847 False neurocardiofaciodigital syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0859248 MONDO:0018102 False corneal dystrophy, punctiform and polychromatic pre-descemet corneal dystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -32794,6 +32779,7 @@ MONDO:0859260 MONDO:0700092 False Dworschak-Punetha neurodevelopmental syndrome MONDO:0859261 MONDO:0007743 False attention deficit-hyperactivity disorder 8 attention deficit-hyperactivity disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0859262 MONDO:0003847 False ACCES syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0859263 MONDO:0003847 False developmental delay, impaired speech, and behavioral abnormalities, with or without seizures hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0859264 MONDO:0019952 False congenital myopathy 11 congenital myopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0859265 MONDO:0700092 False neurodevelopmental disorder with epilepsy and brain atrophy neurodevelopmental disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0859266 MONDO:0700092 False neurodevelopmental disorder with severe motor impairment, absent language, cerebral hypomyelination, and brain atrophy neurodevelopmental disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0859267 MONDO:0015356 False tumor predisposition syndrome 2 hereditary neoplastic syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -32805,6 +32791,8 @@ MONDO:0859275 MONDO:0700092 False neurodevelopmental disorder with spasticity, s MONDO:0859276 MONDO:0003847 False primordial dwarfism-immunodeficiency-lipodystrophy syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0859277 MONDO:0003847 False intellectual developmental disorder with muscle tone abnormalities and distal skeletal defects hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0859278 MONDO:0003847 False keratoderma-ichthyosis-deafness syndrome, autosomal recessive hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0859279 MONDO:0015363 False spinal muscular atrophy, distal, autosomal recessive, 6 neuronopathy, distal hereditary motor, autosomal recessive UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0859280 MONDO:0003847 False developmental delay, hypotonia, and impaired language hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0859281 MONDO:0003847 False intellectual developmental disorder with autism and dysmorphic facies hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0859282 MONDO:0700092 False neurodevelopmental disorder with microcephaly, movement abnormalities, and seizures neurodevelopmental disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0859283 MONDO:0700092 False neurodevelopmental disorder with seizures, microcephaly, and brain abnormalities neurodevelopmental disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -32820,6 +32808,7 @@ MONDO:0859295 MONDO:0700092 False neurodevelopmental disorder with short stature MONDO:0859296 MONDO:0700092 False neurodevelopmental disorder with poor growth, spastic tetraplegia, and hearing loss neurodevelopmental disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0859297 MONDO:0700092 False neurodevelopmental disorder with dysmorphic facies and skeletal and brain abnormalities neurodevelopmental disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0859298 MONDO:0700092 False neurodevelopmental disorder with facial dysmorphism, absent language, and pseudo-pelger-huet anomaly neurodevelopmental disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0859300 MONDO:0015362 False neuronopathy, distal hereditary motor, autosomal dominant 10 neuronopathy, distal hereditary motor, autosomal dominant UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0859301 MONDO:0700092 False neurodevelopmental disorder with craniofacial dysmorphism and skeletal defects neurodevelopmental disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0859302 MONDO:0003847 False hypermetabolism due to uncoupled mitochondrial oxidative phosphorylation 2 hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0859303 MONDO:0003847 False intellectual developmental disorder with ocular anomalies and distinctive facial features hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS @@ -32827,98 +32816,273 @@ MONDO:0859304 MONDO:0005559 False neurodegeneration, childhood-onset, with multi MONDO:0859305 MONDO:0700092 False neurodevelopmental disorder with eye movement abnormalities and ataxia neurodevelopmental disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0859306 MONDO:0003847 False developmental delay with variable intellectual disability and dysmorphic facies hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0859307 MONDO:0005516 False cleidocranial dysplasia 2 osteochondrodysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0859308 MONDO:0019200 False retinitis pigmentosa 95 retinitis pigmentosa UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0859309 MONDO:0019064 False spastic paraplegia 88, autosomal dominant hereditary spastic paraplegia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0859310 MONDO:0003847 False orofaciodigital syndrome 19 hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0859311 MONDO:0015626 False Charcot-Marie-Tooth disease, demyelinating, type 1J Charcot-Marie-Tooth disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0859312 MONDO:0700092 False neurodevelopmental disorder with growth retardation, dysmorphic facies, and corpus callosum abnormalities neurodevelopmental disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0859313 MONDO:0700092 False neurodevelopmental disorder with speech impairment and with or without seizures neurodevelopmental disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0859314 MONDO:0100062 False developmental and epileptic encephalopathy 108 developmental and epileptic encephalopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS MONDO:0859316 MONDO:0020573 False iron overload, susceptibility to inherited disease susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0859317 MONDO:0006025 False pseudohypoaldosteronism, type IB2, autosomal recessive autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0859317 MONDO:0100323 False pseudohypoaldosteronism, type IB2, autosomal recessive inherited pseudohypoaldosteronism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0859318 MONDO:0006025 False pseudohypoaldosteronism, type IB3, autosomal recessive autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0859318 MONDO:0100323 False pseudohypoaldosteronism, type IB3, autosomal recessive inherited pseudohypoaldosteronism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0859319 MONDO:0015780 False dyskeratosis congenita, autosomal recessive 8 dyskeratosis congenita UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0859320 MONDO:0100223 False mitochondrial complex I deficiency, nuclear type 39 mitochondrial complex I deficiency, nuclear type UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0859321 MONDO:0020811 False mitochondrial complex 3 deficiency, nuclear type 11 mitochondrial complex III deficiency, nuclear type UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0859322 MONDO:0003847 False myopathy with myalgia, increased serum creatine kinase, and with or without episodic rhabdomyolysis hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0859323 MONDO:0000732 False combined oxidative phosphorylation deficiency 56 combined oxidative phosphorylation deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0859324 MONDO:0003847 False developmental delay, language impairment, and ocular abnormalities hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0859325 MONDO:0100062 False developmental and epileptic encephalopathy 109 developmental and epileptic encephalopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS +MONDO:0859327 MONDO:0100062 False developmental and epileptic encephalopathy 110 developmental and epileptic encephalopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS +MONDO:0859328 MONDO:0018100 False hypomagnesemia 7, renal, with or without dilated cardiomyopathy familial primary hypomagnesemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0859329 MONDO:0000141 False mosaic variegated aneuploidy syndrome 4 mosaic variegated aneuploidy syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0859330 MONDO:0014769 False oocyte maturation defect 13 inherited oocyte maturation defect UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0859331 MONDO:0003847 False Rabin-Pappas syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0859332 MONDO:0000904 False cortical dysplasia, complex, with other brain malformations 11 complex cortical dysplasia with other brain malformations UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0859333 MONDO:0100172 False intellectual developmental disorder, autosomal dominant 70 intellectual disability, autosomal dominant UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0859333 MONDO:0800477 False intellectual developmental disorder, autosomal dominant 70 SETD2-related neurodevelopmental disorder without or with macrocephaly/overgrowth UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0859334 MONDO:0020380 False spinocerebellar ataxia 50 autosomal dominant cerebellar ataxia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0859335 MONDO:0019952 False congenital myopathy 15 congenital myopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS MONDO:0859336 MONDO:0003847 False muscular dystrophy, congenital, with or without seizures hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0859337 MONDO:0000732 False combined oxidative phosphorylation deficiency 57 combined oxidative phosphorylation deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0859338 MONDO:0004983 False spermatogenic failure 78 spermatogenic failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0859339 MONDO:0005486 False tooth agenesis, selective, 10 tooth agenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0859340 MONDO:0020380 False spinocerebellar ataxia 27B, late-onset autosomal dominant cerebellar ataxia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0859341 MONDO:0003037 False hypotrichosis 15 hypotrichosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0859342 MONDO:0016660 False microcephaly 30, primary, autosomal recessive autosomal recessive primary microcephaly UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0859345 MONDO:0003847 False branchial arch abnormalities, choanal atresia, athelia, hearing loss, and hypothyroidism syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0859346 MONDO:0000141 False mosaic variegated aneuploidy syndrome 7 with inflammation and tumor predisposition mosaic variegated aneuploidy syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0859347 MONDO:0700092 False neurodevelopmental disorder with hypotonia, dysmorphic facies, and skin abnormalities neurodevelopmental disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0859350 MONDO:0700092 False neurodevelopmental disorder with poor growth, large ears, and dysmorphic facies neurodevelopmental disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0859351 MONDO:0003847 False obesity and hypopigmentation hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0859352 MONDO:0004983 False spermatogenic failure 79 spermatogenic failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0859353 MONDO:0016575 False ciliary dyskinesia, primary, 49, without situs inversus primary ciliary dyskinesia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0859354 MONDO:0031432 False thyroid hormone metabolism, abnormal, 3 thyroid hormone metabolism, abnormal UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0859355 MONDO:0016382 False inflammatory poikiloderma with hair abnormalities and acral keratoses hereditary poikiloderma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0859356 MONDO:0005501 False congenital disorder of glycosylation, type IIy congenital disorder of glycosylation type II UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0859357 MONDO:0005501 False congenital disorder of glycosylation, type IIz congenital disorder of glycosylation type II UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0859358 MONDO:0016333 False cardiomyopathy, dilated, 2H familial dilated cardiomyopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0859360 MONDO:0015244 False spinocerebellar ataxia, autosomal recessive 33 autosomal recessive cerebellar ataxia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS MONDO:0859361 MONDO:0700092 False neurodevelopmental disorder with dysmorphic facies and ischiopubic hypoplasia neurodevelopmental disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0859362 MONDO:0005803 False hyperinsulinemic hypoglycemia, familial, 8 hyperinsulinemic hypoglycemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS +MONDO:0859363 MONDO:0019064 False spastic paraplegia 79A, autosomal dominant, with ataxia hereditary spastic paraplegia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0859364 MONDO:0004983 False spermatogenic failure 80 spermatogenic failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0859365 MONDO:0700092 False neurodevelopmental disorder with hypotonia, dysmorphic facies, and skeletal anomalies, with or without seizures neurodevelopmental disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0859366 MONDO:0019587 False hearing loss, autosomal dominant 85 autosomal dominant nonsyndromic hearing loss UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0859367 MONDO:0019200 False retinitis pigmentosa 96 retinitis pigmentosa UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0859368 MONDO:0000453 False short QT syndrome 7 short QT syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0859369 MONDO:0003847 False joint contractures, osteochondromas, and B-cell lymphoma hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0859370 MONDO:0003847 False respiratory infections, recurrent, and failure to thrive with or without diarrhea hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0859371 MONDO:0020573 False rhabdomyolysis, susceptibility to, 1 inherited disease susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0859372 MONDO:0024573 False cardiomyopathy, familial hypertrophic, 29, with polyglucosan bodies familial hypertrophic cardiomyopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0859373 MONDO:0019502 False intellectual developmental disorder, autosomal recessive 78 autosomal recessive non-syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0859374 MONDO:0019588 False hearing loss, autosomal recessive 120 hearing loss, autosomal recessive UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0859375 MONDO:0003847 False developmental delay with hypotonia, myopathy, and brain abnormalities hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0859376 MONDO:0020573 False hydrocephalus, congenital, 5, susceptibility to inherited disease susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0859377 MONDO:0700092 False neurodevelopmental disorder with poor growth and behavioral abnormalities neurodevelopmental disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0859378 MONDO:0019046 False leukodystrophy, hypomyelinating, 25 leukodystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS +MONDO:0859379 MONDO:0019313 False lymphatic malformation 13 lymphatic malformation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0859380 MONDO:0044202 False episodic kinesigenic dyskinesia 3 episodic kinesigenic dyskinesia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0859381 MONDO:0016333 False cardiomyopathy, dilated, 100 familial dilated cardiomyopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0859382 MONDO:0005129 False cataract 50 with or without glaucoma cataract UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0859383 MONDO:0015947 False ichthyosis hystrix inherited ichthyosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0859390 MONDO:0015653 False epilepsy, X-linked, with or without impaired intellectual development and dysmorphic features monogenic epilepsy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0859393 MONDO:0003847 False Atelis syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0859477 MONDO:0004983 False spermatogenic failure, X-linked, 5 spermatogenic failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0859478 MONDO:0004983 False spermatogenic failure, X-linked, 6 spermatogenic failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0859514 MONDO:0019952 False congenital myopathy 18 congenital myopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS +MONDO:0859515 MONDO:0019952 False congenital myopathy 10b, mild variant congenital myopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS MONDO:0859516 MONDO:0700092 False neurodevelopmental disorder with seizures, spasticity, and complete or partial agenesis of the corpus callosum neurodevelopmental disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0859517 MONDO:0019952 False congenital myopathy 2b, severe infantile, autosomal recessive congenital myopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS +MONDO:0859518 MONDO:0019046 False leukodystrophy, hypomyelinating, 26, with chondrodysplasia leukodystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS MONDO:0859519 MONDO:0700092 False neurodevelopmental disorder with absent speech and movement and behavioral abnormalities neurodevelopmental disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0859520 MONDO:0033885 False Mitochondrial complex IV deficiency, nuclear type 23 mitochondrial complex IV deficiency, nuclear-type UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0859521 MONDO:0014769 False oocyte maturation defect 14 inherited oocyte maturation defect UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0859522 MONDO:0004983 False spermatogenic failure 81 spermatogenic failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0859523 MONDO:0019952 False congenital myopathy 2c, severe infantile, autosomal dominant congenital myopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS +MONDO:0859524 MONDO:0019587 False hearing loss, autosomal dominant 86 autosomal dominant nonsyndromic hearing loss UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0859525 MONDO:0019587 False hearing loss, autosomal dominant 87 autosomal dominant nonsyndromic hearing loss UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0859526 MONDO:0021094 False immunodeficiency 109 with lymphoproliferation immunodeficiency disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0859527 MONDO:0019587 False hearing loss, autosomal dominant 88 autosomal dominant nonsyndromic hearing loss UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0859528 MONDO:0019587 False hearing loss, autosomal dominant 89 autosomal dominant nonsyndromic hearing loss UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0859529 MONDO:0005144 False amyotrophic lateral sclerosis 27, juvenile familial amyotrophic lateral sclerosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0859530 MONDO:0005336 False myopathy, sarcoplasmic body myopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0859531 MONDO:0700092 False neurodevelopmental disorder with language delay and behavioral abnormalities, with or without seizures neurodevelopmental disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0859532 MONDO:0000119 False congenital heart defects, multiple types, 9 congenital heart defects, multiple types UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0859564 MONDO:0859390 False epilepsy, X-linked 2, with or without impaired intellectual development and dysmorphic features epilepsy, X-linked, with or without impaired intellectual development and dysmorphic features UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0859567 MONDO:0031329 False craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development syndrome 2 craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS +MONDO:0859568 MONDO:0031166 False macular dystrophy, retinal, 4 macular dystrophy, retinal UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0859569 MONDO:0031646 False braddock-carey syndrome 1 Braddock-Carey syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0859570 MONDO:0031646 False braddock-carey syndrome 2 Braddock-Carey syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0859571 MONDO:0005711 False diaphragmatic hernia 4, with cardiovascular defects congenital diaphragmatic hernia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0859572 MONDO:0031323 False cardiac valvular dysplasia 2 cardiac valvular defect UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0859573 MONDO:0031615 False bent bone dysplasia syndrome 2 familial bent bone dysplasia syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0859574 MONDO:0011870 False ichthyosis, annular epidermolytic, 2 annular epidermolytic ichthyosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0859575 MONDO:0000141 False Atelis syndrome 1 mosaic variegated aneuploidy syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0859575 MONDO:0859393 False Atelis syndrome 1 Atelis syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0859576 MONDO:0000141 False Atelis syndrome 2 mosaic variegated aneuploidy syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0859576 MONDO:0859393 False Atelis syndrome 2 Atelis syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0859577 MONDO:0007872 False lacrimoauriculodentodigital syndrome 2 LADD syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0859578 MONDO:0007872 False lacrimoauriculodentodigital syndrome 3 LADD syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0859588 MONDO:0018855 False keratosis pilaris atrophicans faciei keratosis pilaris atrophicans UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0859591 MONDO:0021637 False childhood low-grade glioma low grade glioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0859592 MONDO:0016696 False IDH-mutant and 1p/19q-codeleted oligodendroglioma anaplastic oligodendroglioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0859597 MONDO:0002900 False cns neuroblastoma with FOXR2 activation cerebral neuroblastoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0859598 MONDO:0017858 False erythroleukemia acute erythroid leukemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0859614 MONDO:0021637 False diffuse low-grade glioma, MAPK pathway–altered low grade glioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0859615 MONDO:0016686 False diffuse astrocytoma, MYB- or MYBL1-altered diffuse astrocytoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0859689 MONDO:0000385 False hepatobiliary benign neoplasm benign digestive system neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0859690 MONDO:0850125 False malignant cystadenoma malignant adenoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0859692 MONDO:0016593 False immune-mediated cerebellar ataxia acquired ataxia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0859747 MONDO:0019466 False grade I lymphomatoid granulomatosis lymphomatoid granulomatosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0859748 MONDO:0019466 False grade II lymphomatoid granulomatosis lymphomatoid granulomatosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0859749 MONDO:0019466 False grade III lymphomatoid granulomatosis lymphomatoid granulomatosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0859761 MONDO:0859000 False SLC12A2-related autosomal recessive neonatal-developmental delay-intellectual disability-feeding difficulty-sensorineural deafness syndrome SLC12A2-related developmental delay-intellectual disability-sensorineural deafness syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0859762 MONDO:0859000 False SLC12A2-related autosomal dominant infantile-developmental delay-intellectual disability-sensorineural deafness syndrome SLC12A2-related developmental delay-intellectual disability-sensorineural deafness syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0859763 MONDO:0859008 False mosaic neurofibromatosis type 1 neurofibromatosis/schwannomatosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0859764 MONDO:0859008 False mosaic NF2-related schwannomatosis neurofibromatosis/schwannomatosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0859765 MONDO:0859008 False mosaic schwannomatosis neurofibromatosis/schwannomatosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0957003 MONDO:0003847 False hereditary neuro-ophthalmological disease hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0957008 MONDO:0020022 False hereditary cerebral malformation central nervous system malformation UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0957018 MONDO:0019751 False autoinflammatory syndrome of childhood autoinflammatory syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0957048 MONDO:0003004 False isolated macular dystrophy macular degeneration UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0957097 MONDO:0001549 False hereditary hemolytic uremic syndrome hemolytic-uremic syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0957097 MONDO:0021181 False hereditary hemolytic uremic syndrome inherited blood coagulation disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0957111 MONDO:0019119 False neurological muscular channelopathy due to a genetic sodium channel defect muscular channelopathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0957112 MONDO:0019119 False neurological muscular channelopathy due to a genetic chloride channel defect muscular channelopathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0957113 MONDO:0019119 False neurological muscular channelopathy due to a genetic calcium channel defect muscular channelopathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0957114 MONDO:0019119 False neurological muscular channelopathy due to a genetic potassium channel defect muscular channelopathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0957115 MONDO:0019119 False neurological muscular channelopathy due to a genetic ryanodine receptor defect muscular channelopathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0957202 MONDO:0004983 False spermatogenic failure, X-linked, 7 spermatogenic failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0957203 MONDO:0019181 False intellectual developmental disorder, X-linked 111 non-syndromic X-linked intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0957204 MONDO:0003847 False autoinflammation with pulmonary and cutaneous vasculitis hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0957208 MONDO:0013099 False pituitary hormone deficiency, combined or isolated, 8 combined pituitary hormone deficiencies, genetic form UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0957210 MONDO:0003847 False neurooculorenal syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0957211 MONDO:0003847 False neurodegeneration and seizures due to copper transport defect hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0957215 MONDO:0019952 False congenital myopathy 20 congenital myopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0957216 MONDO:0019852 False premature ovarian failure 21 inherited primary ovarian failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0957217 MONDO:0000904 False cortical dysplasia, complex, with other brain malformations 12 complex cortical dysplasia with other brain malformations UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0957218 MONDO:0100500 False neurodevelopmental disorder with microcephaly and speech delay, with or without brain abnormalities Mendelian neurodevelopmental disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0957220 MONDO:0014769 False oocyte/zygote/embryo maturation arrest 17 inherited oocyte maturation defect UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0957221 MONDO:0019064 False spastic paraplegia 70, autosomal recessive hereditary spastic paraplegia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0957224 MONDO:0019952 False congenital myopathy 21 with early respiratory failure congenital myopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0957225 MONDO:0024237 False neurodegeneration with developmental delay, early respiratory failure, myoclonic seizures, and brain abnormalities inherited neurodegenerative disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0957228 MONDO:0100172 False intellectual developmental disorder, autosomal dominant 71, with behavioral abnormalities intellectual disability, autosomal dominant UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0957229 MONDO:0021094 False hatipoglu immunodeficiency syndrome immunodeficiency disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0957230 MONDO:0014769 False oocyte/zygote/embryo maturation arrest 18 inherited oocyte maturation defect UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0957231 MONDO:0014769 False oocyte/zygote/embryo maturation arrest 19 inherited oocyte maturation defect UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0957240 MONDO:0015993 False cone-rod dystrophy 24 cone-rod dystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0957247 MONDO:0019952 False congenital myopathy 22A, classic congenital myopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0957248 MONDO:0100062 False developmental and epileptic encephalopathy 31B developmental and epileptic encephalopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0957249 MONDO:0004983 False spermatogenic failure 82 spermatogenic failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0957250 MONDO:0004983 False spermatogenic failure 83 spermatogenic failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0957252 MONDO:0016575 False ciliary dyskinesia, primary, 50 primary ciliary dyskinesia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0957253 MONDO:0000824 False diarrhea 13 congenital diarrhea UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0957254 MONDO:0014471 False mitochondrial complex V (ATP synthase) deficiency, nuclear type 4A mitochondrial proton-transporting ATP synthase complex deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0957255 MONDO:0014471 False mitochondrial complex V (ATP synthase) deficiency, nuclear type 7 mitochondrial proton-transporting ATP synthase complex deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0957260 MONDO:0003847 False combined low LDL and fibrinogen hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0957261 MONDO:0000148 False pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 7 pulmonary fibrosis and/or bone marrow failure, telomere-related UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0957262 MONDO:0019026 False osteopetrosis, autosomal recessive 9 autosomal recessive osteopetrosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0957263 MONDO:0000148 False pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 8 pulmonary fibrosis and/or bone marrow failure, telomere-related UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0957264 MONDO:0012815 False cerebroretinal microangiopathy with calcifications and cysts 3 Coats plus syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0957265 MONDO:0019952 False congenital myopathy 22B, severe fetal congenital myopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0957266 MONDO:0003847 False RECON progeroid syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0957267 MONDO:0100500 False neurodevelopmental disorder with intracranial hemorrhage, seizures, and spasticity Mendelian neurodevelopmental disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0957268 MONDO:0003847 False hypersulfaturia hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0957270 MONDO:0015152 False muscular dystrophy, limb-girdle, autosomal recessive 28 autosomal recessive limb-girdle muscular dystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0957271 MONDO:0019751 False autoinflammatory disease, systemic, with vasculitis autoinflammatory syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0957271 MONDO:0023603 False autoinflammatory disease, systemic, with vasculitis hereditary disorder of connective tissue UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0957273 MONDO:0019548 False Charcot-Marie-Tooth disease, dominant intermediate A autosomal dominant intermediate Charcot-Marie-Tooth disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0957274 MONDO:0019064 False spastic paraplegia 89, autosomal recessive hereditary spastic paraplegia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0957278 MONDO:0014769 False oocyte/zygote/embryo maturation arrest 20 inherited oocyte maturation defect UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0957279 MONDO:0021944 False auditory neuropathy, autosomal dominant 2 auditory neuropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0957281 MONDO:0018958 False nemaline myopathy 5B, autosomal recessive, childhood-onset nemaline myopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0957284 MONDO:0018958 False nemaline myopathy 5C, autosomal dominant nemaline myopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0957288 MONDO:0019502 False intellectual developmental disorder, autosomal recessive 79 autosomal recessive non-syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0957294 MONDO:0000148 False pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 9 pulmonary fibrosis and/or bone marrow failure, telomere-related UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0957301 MONDO:0004983 False spermatogenic failure 84 spermatogenic failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0957303 MONDO:0003847 False palmoplantar keratoderma, epidermolytic, 2 hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0957307 MONDO:0003847 False woolly hair-skin fragility syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0957308 MONDO:0019064 False spastic paraplegia 90A, autosomal dominant hereditary spastic paraplegia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0957309 MONDO:0019064 False spastic paraplegia 90B, autosomal recessive hereditary spastic paraplegia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0957314 MONDO:0019200 False retinitis pigmentosa 97 retinitis pigmentosa UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0957337 MONDO:0005283 False isolated chorioretinal dystrophy retinal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0957341 MONDO:0005041 False secondary early-onset glaucoma glaucoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0957382 MONDO:0017338 False multiple mitochondrial dysfunctions syndrome 7 fatal multiple mitochondrial dysfunctions syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0957385 MONDO:0044807 False dystonia 37, early-onset, with striatal lesions inherited dystonia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0957386 MONDO:0100500 False neurodevelopmental disorder with motor and language delay, ocular defects, and brain abnormalities Mendelian neurodevelopmental disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0957388 MONDO:0000213 False autoimmune disease, multisystem, infantile-onset, 3 autoimmune disease, multisystem, infantile-onset UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0957396 MONDO:0016575 False ciliary dyskinesia, primary, 51 primary ciliary dyskinesia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0957397 MONDO:0100172 False intellectual developmental disorder, autosomal dominant 72 intellectual disability, autosomal dominant UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0957403 MONDO:0015137 False periodic fever syndrome of childhood periodic fever syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0957404 MONDO:0019751 False pyogenic autoinflammatory syndrome of childhood autoinflammatory syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0957405 MONDO:0019751 False granulomatous autoinflammatory syndrome of childhood autoinflammatory syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0957408 MONDO:0019751 False type 1 interferonopathy of childhood autoinflammatory syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0957421 MONDO:0006009 False borna virus encephalitis viral encephalitis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0957423 MONDO:0021156 False immunotherapy induced hypophysitis hypophysitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0957426 MONDO:0018037 False autosomal recessive hyper-IgE syndrome hyper-IgE syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0957427 MONDO:0004947 False B-lymphoblastic leukemia/lymphoma with t(7;9)(q11.2;p13.2) B-cell acute lymphoblastic leukemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0957428 MONDO:0004947 False B-lymphoblastic leukemia/lymphoma with t(17;19) B-cell acute lymphoblastic leukemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0957430 MONDO:0005090 False childhood-onset schizophrenia schizophrenia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0957431 MONDO:0018912 False endogenous Cushing syndrome Cushing syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0957432 MONDO:0004001 False neonatal compartment syndrome compartment syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0957433 MONDO:0020292 False primary pulmonary vein stenosis congenital anomaly of the great arteries UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0957442 MONDO:0100309 False autosomal recessive ataxia due to PEX16 deficiency hereditary ataxia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0957443 MONDO:0100309 False autosomal recessive ataxia due to PEX2 deficiency hereditary ataxia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0957451 MONDO:0017077 False non-terminal myelocystocele myelocystocele UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0957452 MONDO:0005385 False segmental arterial mediolysis vascular disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0957453 MONDO:0019773 False true myelomeningocele myelomeningocele UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0957454 MONDO:0019773 False hemi-myelomeningocele myelomeningocele UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0957456 MONDO:0016367 False classical dermatomyositis dermatomyositis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0957458 MONDO:0016367 False adermatopathic dermatomyositis dermatomyositis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0957459 MONDO:0003749 False congenital esophageal stenosis esophageal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0957460 MONDO:0006807 False spontaneous intestinal perforation intestinal perforation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0957461 MONDO:0018076 False primary tuberculous lymphadenitis tuberculosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0957462 MONDO:0006052 False primary pulmonary tuberculosis pulmonary tuberculosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0957463 MONDO:0018076 False primary bone and joint tuberculosis tuberculosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0957464 MONDO:0021948 False primary cutaneous tuberculosis cutaneous tuberculosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0957465 MONDO:0018076 False multifocal tuberculosis tuberculosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0957466 MONDO:0018076 False primary tuberculosis of the digestive system tuberculosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0957467 MONDO:0006002 False primary genito-urinary tuberculosis urogenital tuberculosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0957473 MONDO:0002254 False craniosynostosis-facial dysmorphism-chiari-1 malformation-developmental and language delay syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0957476 MONDO:0019356 False isolated persistent urogenital sinus urogenital tract malformation UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0957477 MONDO:0002254 False MYT1L-related developmental delay-intellectual disability-obesity syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0957481 MONDO:0100194 False idiopathic pregnancy-associated osteoporosis pregnancy associated osteoporosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0957487 MONDO:0800105 False idiopathic catatonia catatonia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0957494 MONDO:0019751 False autoinflammatory disease, multisystem, with immune dysregulation, X-linked autoinflammatory syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0957494 MONDO:0023603 False autoinflammatory disease, multisystem, with immune dysregulation, X-linked hereditary disorder of connective tissue UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0957495 MONDO:0957097 False hemolytic uremic syndrome, atypical, 8, with rhizomelic short stature hereditary hemolytic uremic syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0957496 MONDO:0019181 False intellectual developmental disorder, X-linked 112 non-syndromic X-linked intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0957497 MONDO:0003847 False disabling pansclerotic morphea of childhood hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0957530 MONDO:0100526 False breast-ovarian cancer, familial, susceptibility to, 5 breast-ovarian cancer, familial, susceptibility to UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0957531 MONDO:0100500 False neurodevelopmental disorder with microcephaly and movement abnormalities Mendelian neurodevelopmental disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0957533 MONDO:0000137 False megalencephalic leukoencephalopathy with subcortical cysts 3 leukoencephalopathy, megalencephalic UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0957534 MONDO:0000137 False megalencephalic leukoencephalopathy with subcortical cysts 4, remitting leukoencephalopathy, megalencephalic UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0957535 MONDO:0021094 False immunodeficiency 112 immunodeficiency disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0957536 MONDO:0015802 False intellectual developmental disorder, autosomal dominant 73 autosomal dominant non-syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0957537 MONDO:0000732 False combined oxidative phosphorylation deficiency 58 combined oxidative phosphorylation deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0957538 MONDO:0005144 False amyotrophic lateral sclerosis 28 familial amyotrophic lateral sclerosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0957539 MONDO:0044807 False dystonia 22, juvenile-onset inherited dystonia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0957540 MONDO:0005501 False congenital disorder of glycosylation, type IIaa congenital disorder of glycosylation type II UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0957541 MONDO:0100500 False neurodevelopmental disorder with hypotonia and speech delay, with or without seizures Mendelian neurodevelopmental disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:8000010 MONDO:0002254 False antiphospholipid syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0957542 MONDO:0044807 False dystonia 22, adult-onset inherited dystonia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0957543 MONDO:0000107 False auriculocondylar syndrome 4 auriculocondylar syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0957544 MONDO:0000107 False auriculocondylar syndrome 2B auriculocondylar syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0957545 MONDO:0016333 False cardiomyopathy, dilated, 2I familial dilated cardiomyopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0957556 MONDO:0017864 False congenital pulmonary vein atresia congenital pulmonary veins atresia or stenosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:8000006 MONDO:0015134 False WHIM syndrome 1 constitutional neutropenia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:8000008 MONDO:0015159 False Martsolf syndrome 1 multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:8000008 MONDO:0015770 False Martsolf syndrome 1 congenital hypogonadotropic hypogonadism UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:8000010 MONDO:0007179 False antiphospholipid syndrome autoimmune disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:8000011 MONDO:0000858 False visceral neuropathy, familial, 1, autosomal recessive neuronal intestinal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:8000011 MONDO:0017574 False visceral neuropathy, familial, 1, autosomal recessive chronic intestinal pseudoobstruction UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:8000014 MONDO:0000426 False familial antiphospholipid syndrome autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:8000014 MONDO:8000010 False familial antiphospholipid syndrome antiphospholipid syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:8000018 MONDO:0004900 False benign paroxysmal positional vertigo peripheral vertigo UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:8000018 MONDO:0018751 False benign paroxysmal positional vertigo hereditary otorhinolaryngologic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:8000018 MONDO:0037940 False benign paroxysmal positional vertigo inherited auditory system disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:8000019 MONDO:0004900 False vertigo, benign recurrent, 1 peripheral vertigo UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:8000019 MONDO:0018751 False vertigo, benign recurrent, 1 hereditary otorhinolaryngologic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:8000019 MONDO:0037940 False vertigo, benign recurrent, 1 inherited auditory system disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:8000023 MONDO:0017979 False type 3 autoimmune lymphoproliferative syndrome autoimmune lymphoproliferative syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:8000024 MONDO:0017979 False autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD autoimmune lymphoproliferative syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS From 12a0e9e2647f2e53c588de2718456340925fbc6e Mon Sep 17 00:00:00 2001 From: Nico Matentzoglu Date: Fri, 26 Jan 2024 14:28:20 +0200 Subject: [PATCH 4/9] Improve error message a bit in subclass sync --- src/scripts/sync_subclassof.py | 6 ++++++ 1 file changed, 6 insertions(+) diff --git a/src/scripts/sync_subclassof.py b/src/scripts/sync_subclassof.py index 28f76786..a7a85bdf 100644 --- a/src/scripts/sync_subclassof.py +++ b/src/scripts/sync_subclassof.py @@ -281,6 +281,10 @@ def sync_subclassof( logging.info('- Collecting direct subclass relations') rels_direct_source_source: Set[RELATIONSHIP] = _get_direct_scr_rels( # from source source_ids, ingest_db, owned_prefix_map) + + if not rels_direct_source_source or len(rels_direct_source_source) < 1: + raise ValueError("Source has no relationships. Something went wrong") + rels_direct_mondo_mondo: Set[RELATIONSHIP] = _get_direct_scr_rels( # from Mondo mondo_ids, mondo_db, MONDO_PREFIX_MAP) rels_direct_mondo_source, rels_direct_mondo_mondo_and_1or2_ids_not_in_source = _convert_edge_namespace( @@ -304,11 +308,13 @@ def sync_subclassof( # after. It could be that I invalidated the cache somehow without realizing it. Rerunning cache fixed it though. missing_ancestor_rels = rels_indirect_mondo_mondo.union(rels_direct_mondo_mondo).difference(ancestors_mondo_mondo) if missing_ancestor_rels: + rels_for_printing = [rel for rel in missing_ancestor_rels[:5]] logging.error( 'Detected error in consistency of sets of terms gathered from Mondo.\n' f'\n 1. Mondo SCR ancestors: {len(ancestors_mondo_mondo)}' f'\n 2. Mondo direct SCR relationships: {len(rels_direct_mondo_mondo)}' f'\n 3. Mondo indirect SCR relationships: {len(rels_indirect_mondo_mondo)}' + f'\n Intersection (Top 5): {rels_for_printing}' f'\n "1" should be same as "2" + "3", but instead it has n less rels: {len(missing_ancestor_rels)}') # Determine hierarchy diferences ----------------------------------------------------------------------------------- From 0d6dd81824bce6583adb7c593c86f8b16f6914e8 Mon Sep 17 00:00:00 2001 From: Nico Matentzoglu Date: Fri, 26 Jan 2024 14:28:51 +0200 Subject: [PATCH 5/9] Add tmp/mondo-ingest.owl goal which didnt previously exist. --- src/ontology/mondo-ingest.Makefile | 3 +++ 1 file changed, 3 insertions(+) diff --git a/src/ontology/mondo-ingest.Makefile b/src/ontology/mondo-ingest.Makefile index 3a5dc889..61ba7869 100644 --- a/src/ontology/mondo-ingest.Makefile +++ b/src/ontology/mondo-ingest.Makefile @@ -426,6 +426,9 @@ $(MAPPINGSDIR)/rejected-mappings.tsv: $(MAPPINGSDIR)/rejected-mappings-sssom.tsv: $(MAPPINGSDIR)/rejected-mappings.tsv sssom parse $< -m metadata/mondo.sssom.config.yml --no-strict-clean-prefixes -o $@ +tmp/mondo-ingest.owl: mondo-ingest.owl + cp $< $@ + # Merge Mondo, precise mappings and mondo-ingest into one coherent whole for the purpose of querying. tmp/merged.owl: tmp/mondo.owl mondo-ingest.owl tmp/mondo.sssom.ttl $(ROBOT) merge -i tmp/mondo.owl -i mondo-ingest.owl -i tmp/mondo.sssom.ttl --add-prefixes config/context.json \ From a1f45704d7972b11b38e72f192658f65bafe51ce Mon Sep 17 00:00:00 2001 From: Nico Matentzoglu Date: Fri, 26 Jan 2024 14:44:50 +0200 Subject: [PATCH 6/9] Fixed DOID sync --- .../doid.subclass.added-obsolete.robot.tsv | 2 +- .../reports/doid.subclass.added.robot.tsv | 20 +++++++++++------ .../reports/doid.subclass.confirmed.robot.tsv | 22 ++++++++----------- src/scripts/sync_subclassof.py | 2 +- 4 files changed, 24 insertions(+), 22 deletions(-) diff --git a/src/ontology/reports/doid.subclass.added-obsolete.robot.tsv b/src/ontology/reports/doid.subclass.added-obsolete.robot.tsv index 913d9644..b18d0595 100644 --- a/src/ontology/reports/doid.subclass.added-obsolete.robot.tsv +++ b/src/ontology/reports/doid.subclass.added-obsolete.robot.tsv @@ -1,5 +1,5 @@ subject_mondo_id subject_mondo_label object_mondo_id subject_source_id object_source_id object_mondo_label -ID AI MONDO:excluded_subClassOf >A oboInOwl:source +ID AI obo:mondo#excluded_subClassOf >A oboInOwl:source MONDO:0000275 obsolete monogenic disease MONDO:0003847 DOID:0050177 DOID:630 hereditary disease MONDO:0000348 obsolete posterior polar cataract MONDO:0005129 DOID:0050537 DOID:83 cataract MONDO:0000358 orofacial cleft MONDO:0000839 DOID:0050567 DOID:0080015 obsolete congenital abnormality diff --git a/src/ontology/reports/doid.subclass.added.robot.tsv b/src/ontology/reports/doid.subclass.added.robot.tsv index dfefa7f1..88fb11a1 100644 --- a/src/ontology/reports/doid.subclass.added.robot.tsv +++ b/src/ontology/reports/doid.subclass.added.robot.tsv @@ -1,5 +1,5 @@ subject_mondo_id subject_mondo_label object_mondo_id subject_source_id object_source_id object_mondo_label -ID AI MONDO:excluded_subClassOf >A oboInOwl:source +ID AI obo:mondo#excluded_subClassOf >A oboInOwl:source MONDO:0000009 inherited bleeding disorder, platelet-type MONDO:0001531 DOID:2218 DOID:1247 blood coagulation disease MONDO:0000023 infantile liver failure MONDO:0002254 DOID:0080716 DOID:225 syndromic disease MONDO:0000032 febrile seizures, familial MONDO:0005560 DOID:0111297 DOID:936 brain disorder @@ -209,12 +209,14 @@ MONDO:0002229 ovarian epithelial tumor MONDO:0004993 DOID:2152 DOID:305 carcinom MONDO:0002229 ovarian epithelial tumor MONDO:0008170 DOID:2152 DOID:2394 ovarian cancer MONDO:0002243 hemorrhagic disease MONDO:0001531 DOID:2213 DOID:1247 blood coagulation disease MONDO:0002249 thrombocytosis disease MONDO:0000009 DOID:2228 DOID:2218 inherited bleeding disorder, platelet-type +MONDO:0002250 basilar artery insufficiency MONDO:0005264 DOID:223 DOID:224 transient ischemic attack MONDO:0002253 spondylosis MONDO:0000812 DOID:2247 DOID:0060564 vertebral column disorder MONDO:0002277 arteriosclerosis disorder MONDO:0002277 DOID:2348 DOID:2349 arteriosclerosis disorder MONDO:0002278 benign colon neoplasm MONDO:0002013 DOID:235 DOID:1475 lymphangioma MONDO:0002279 iron metabolism disease MONDO:0024301 DOID:2351 DOID:0050032 acquired mineral metabolism disease MONDO:0002283 neuroaxonal dystrophy MONDO:0022687 DOID:2367 DOID:1443 cerebellar degeneration MONDO:0002295 skin glomus tumor MONDO:0002898 DOID:2430 DOID:4159 skin cancer +MONDO:0002299 glomangioma MONDO:0000426 DOID:2436 DOID:0050736 autosomal dominant disease MONDO:0002299 glomangioma MONDO:0003342 DOID:2436 DOID:5238 benign perivascular tumor MONDO:0002312 opportunistic mycosis MONDO:0000256 DOID:2473 DOID:0050136 systemic mycosis MONDO:0002319 phosphorus metabolism disease MONDO:0024301 DOID:2485 DOID:0050032 acquired mineral metabolism disease @@ -476,6 +478,7 @@ MONDO:0003931 childhood optic tract astrocytoma MONDO:0003234 DOID:6575 DOID:499 MONDO:0003937 spondylitis MONDO:0005095 DOID:6590 DOID:1123 spondyloarthropathy MONDO:0003939 muscle tissue disorder MONDO:0003939 DOID:66 DOID:0080000 muscle tissue disorder MONDO:0003945 bone epithelioid hemangioma MONDO:0000631 DOID:6610 DOID:0060094 bone benign neoplasm +MONDO:0003955 juvenile breast papillomatosis MONDO:0000620 DOID:6641 DOID:0060082 breast benign neoplasm MONDO:0003956 Baastrup syndrome MONDO:0005095 DOID:6643 DOID:1123 spondyloarthropathy MONDO:0003971 gastric pylorus carcinoma MONDO:0001061 DOID:6703 DOID:10544 pylorus cancer MONDO:0003975 Littre gland carcinoma MONDO:0005836 DOID:6721 DOID:3856 male reproductive organ cancer @@ -509,6 +512,7 @@ MONDO:0004245 ependymal tumor of brain MONDO:0003544 DOID:7497 DOID:5612 spinal MONDO:0004248 pediatric infratentorial ependymoma MONDO:0003107 DOID:7501 DOID:4706 infratentorial cancer MONDO:0004249 pediatric supratentorial ependymoma MONDO:0002071 DOID:7502 DOID:1659 supratentorial cancer MONDO:0004252 small intestinal L-cell glucagon-like peptide producing tumor MONDO:0000956 DOID:7506 DOID:10154 small intestine cancer +MONDO:0004253 intraductal breast papillomatosis MONDO:0000620 DOID:7511 DOID:0060082 breast benign neoplasm MONDO:0004255 Wolffian adnexal tumor MONDO:0003612 DOID:7514 DOID:5727 uterine ligament cancer MONDO:0004257 childhood central nervous system mixed germ cell tumor MONDO:0001657 DOID:7516 DOID:1319 brain cancer MONDO:0004258 female orgasmic disorder MONDO:0002263 DOID:7518 DOID:229 female reproductive system disorder @@ -636,6 +640,7 @@ MONDO:0005300 chronic kidney disease MONDO:0001106 DOID:784 DOID:1074 kidney fai MONDO:0005304 biliary tract neoplasm MONDO:0859689 DOID:0050625 DOID:3117 hepatobiliary benign neoplasm MONDO:0005308 ciliopathy MONDO:0002254 DOID:0060340 DOID:225 syndromic disease MONDO:0005328 eye disorder MONDO:0005328 DOID:1242 DOID:5614 eye disorder +MONDO:0005349 otosclerosis MONDO:0000426 DOID:12185 DOID:0050736 autosomal dominant disease MONDO:0005371 mood disorder MONDO:0002039 DOID:3324 DOID:1561 cognitive disorder MONDO:0005380 osteonecrosis MONDO:0005380 DOID:10159 DOID:0080008 osteonecrosis MONDO:0005381 bone disorder MONDO:0003900 DOID:0080001 DOID:65 connective tissue disorder @@ -819,6 +824,7 @@ MONDO:0006960 sciatic neuropathy MONDO:0001543 DOID:11446 DOID:12528 lesion of s MONDO:0006962 sebaceous adenocarcinoma MONDO:0006962 DOID:4839 DOID:4840 sebaceous adenocarcinoma MONDO:0006971 sigmoid neoplasm MONDO:0002278 DOID:1896 DOID:235 benign colon neoplasm MONDO:0006975 smooth muscle tumor MONDO:0003061 DOID:4310 DOID:461 benign muscle neoplasm +MONDO:0006980 struma ovarii MONDO:0000646 DOID:2640 DOID:0060112 ovarian benign neoplasm MONDO:0006998 tonsil cancer MONDO:0000612 DOID:8858 DOID:0060073 lymphatic system cancer MONDO:0007015 viral meningitis MONDO:0005108 DOID:10310 DOID:934 viral infectious disease MONDO:0007032 prune belly syndrome MONDO:0006025 DOID:0060889 DOID:0050737 autosomal recessive disease @@ -975,6 +981,7 @@ MONDO:0007589 exudative vitreoretinopathy 1 MONDO:0000426 DOID:0111412 DOID:0050 MONDO:0007606 fibrodysplasia ossificans progressiva MONDO:0000426 DOID:13374 DOID:0050736 autosomal dominant disease MONDO:0007606 fibrodysplasia ossificans progressiva MONDO:0003900 DOID:13374 DOID:65 connective tissue disorder MONDO:0007608 desmoid tumor MONDO:0000654 DOID:0080366 DOID:0060123 benign connective and soft tissue neoplasm +MONDO:0007615 laurin-Sandrow syndrome MONDO:0000426 DOID:0111350 DOID:0050736 autosomal dominant disease MONDO:0007615 laurin-Sandrow syndrome MONDO:0018234 DOID:0111350 DOID:1934 dysostosis MONDO:0007621 Floating-Harbor syndrome MONDO:0000426 DOID:0111358 DOID:0050736 autosomal dominant disease MONDO:0007621 Floating-Harbor syndrome MONDO:0002254 DOID:0111358 DOID:225 syndromic disease @@ -1054,8 +1061,6 @@ MONDO:0007938 46,XY sex reversal 4 MONDO:0000761 DOID:0111771 DOID:0060388 syndr MONDO:0007947 Marfan syndrome MONDO:0005328 DOID:14323 DOID:5614 eye disorder MONDO:0007947 Marfan syndrome MONDO:0005561 DOID:14323 DOID:520 aortic disorder MONDO:0007959 medulloblastoma MONDO:0003107 DOID:0050902 DOID:4706 infratentorial cancer -MONDO:0007964 melanoma, cutaneous malignant, susceptibility to, 2 MONDO:0000426 DOID:10041 DOID:0050736 autosomal dominant disease -MONDO:0007964 melanoma, cutaneous malignant, susceptibility to, 2 MONDO:0002254 DOID:10041 DOID:225 syndromic disease MONDO:0007967 melanoma and neural system tumor syndrome MONDO:0000426 DOID:0111511 DOID:0050736 autosomal dominant disease MONDO:0007974 intellectual disability, autosomal dominant 1 MONDO:0015802 DOID:0070031 DOID:0060307 autosomal dominant non-syndromic intellectual disability MONDO:0007979 metachondromatosis MONDO:0000426 DOID:0111512 DOID:0050736 autosomal dominant disease @@ -1079,6 +1084,7 @@ MONDO:0008039 tropical spastic paraparesis MONDO:0002545 DOID:321 DOID:319 spina MONDO:0008044 myoclonic dystonia 11 MONDO:0000426 DOID:0090034 DOID:0050736 autosomal dominant disease MONDO:0008045 spinal muscular atrophy-progressive myoclonic epilepsy syndrome MONDO:0006025 DOID:0111527 DOID:0050737 autosomal recessive disease MONDO:0008048 autosomal dominant centronuclear myopathy MONDO:0008048 DOID:0111223 DOID:0111217 autosomal dominant centronuclear myopathy +MONDO:0008049 myopathy, distal, infantile-onset MONDO:0000426 DOID:0070196 DOID:0050736 autosomal dominant disease MONDO:0008050 MYH7-related skeletal myopathy MONDO:0000426 DOID:0070197 DOID:0050736 autosomal dominant disease MONDO:0008051 tubular aggregate myopathy MONDO:0000426 DOID:0080089 DOID:0050736 autosomal dominant disease MONDO:0008055 myotonia congenita, autosomal dominant MONDO:0000426 DOID:0081336 DOID:0050736 autosomal dominant disease @@ -1133,7 +1139,6 @@ MONDO:0008246 pigmented paravenous retinochoroidal atrophy MONDO:0000426 DOID:01 MONDO:0008267 orofaciodigital syndrome V MONDO:0006025 DOID:0060375 DOID:0050737 autosomal recessive disease MONDO:0008275 familial expansile osteolysis MONDO:0000426 DOID:0111542 DOID:0050736 autosomal dominant disease MONDO:0008275 familial expansile osteolysis MONDO:0000833 DOID:0111542 DOID:0080005 bone remodeling disease -MONDO:0008276 generalized juvenile polyposis/juvenile polyposis coli MONDO:0004335 DOID:0050787 DOID:77 digestive system disorder MONDO:0008278 juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome MONDO:0000426 DOID:0111543 DOID:0050736 autosomal dominant disease MONDO:0008280 Peutz-Jeghers syndrome MONDO:0005020 DOID:3852 DOID:5295 intestinal disorder MONDO:0008283 Cronkhite-Canada syndrome MONDO:0004298 DOID:6225 DOID:76 stomach disorder @@ -1575,6 +1580,7 @@ MONDO:0009910 Wiedemann-Rautenstrauch syndrome MONDO:0006025 DOID:0081333 DOID:0 MONDO:0009916 46,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency MONDO:0005518 DOID:0112248 DOID:3765 pseudohermaphroditism MONDO:0009916 46,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency MONDO:0006025 DOID:0112248 DOID:0050737 autosomal recessive disease MONDO:0009917 autosomal recessive pseudohypoaldosteronism type 1 MONDO:0006025 DOID:0060854 DOID:0050737 autosomal recessive disease +MONDO:0009919 peroxisomal acyl-CoA oxidase deficiency MONDO:0006025 DOID:0050797 DOID:0050737 autosomal recessive disease MONDO:0009934 alveolar capillary dysplasia with misalignment of pulmonary veins MONDO:0005149 DOID:13042 DOID:6432 pulmonary hypertension MONDO:0009937 pulmonary venoocclusive disease MONDO:0005149 DOID:5453 DOID:6432 pulmonary hypertension MONDO:0009940 pycnodysostosis MONDO:0006025 DOID:0080038 DOID:0050737 autosomal recessive disease @@ -1858,7 +1864,6 @@ MONDO:0010657 methylmalonic acidemia with homocystinuria, type cblX MONDO:002060 MONDO:0010659 FRAXE intellectual disability MONDO:0020119 DOID:0080984 DOID:0060309 X-linked syndromic intellectual disability MONDO:0010659 FRAXE intellectual disability MONDO:0020605 DOID:0080984 DOID:0080012 X-linked recessive disease MONDO:0010660 intellectual disability, X-linked 9 MONDO:0020605 DOID:0112034 DOID:0080012 X-linked recessive disease -MONDO:0010663 intellectual disability-hypotonic facies syndrome, X-linked, 1 MONDO:0020119 DOID:0080982 DOID:0060309 X-linked syndromic intellectual disability MONDO:0010664 syndromic X-linked intellectual disability Snyder type MONDO:0020605 DOID:0060802 DOID:0080012 X-linked recessive disease MONDO:0010665 Wilson-Turner syndrome MONDO:0020605 DOID:0060814 DOID:0080012 X-linked recessive disease MONDO:0010667 Prieto syndrome MONDO:0020605 DOID:0060805 DOID:0080012 X-linked recessive disease @@ -1882,7 +1887,7 @@ MONDO:0010711 TARP syndrome MONDO:0002254 DOID:0111780 DOID:225 syndromic diseas MONDO:0010712 panhypopituitarism, X-linked MONDO:0000425 DOID:0111779 DOID:0050735 X-linked disease MONDO:0010713 properdin deficiency, X-linked MONDO:0003832 DOID:0111768 DOID:626 complement deficiency MONDO:0010713 properdin deficiency, X-linked MONDO:0020605 DOID:0111768 DOID:0080012 X-linked recessive disease -MONDO:0010714 Pelizaeus-Merzbacher disease MONDO:0020605 DOID:3210 DOID:0080012 X-linked recessive disease +MONDO:0010714 Pelizeaus-Merzbacher spectrum disorder MONDO:0020605 DOID:3210 DOID:0080012 X-linked recessive disease MONDO:0010720 partial androgen insensitivity syndrome MONDO:0020605 DOID:0080776 DOID:0080012 X-linked recessive disease MONDO:0010723 retinitis pigmentosa 2 MONDO:0000425 DOID:0110415 DOID:0050735 X-linked disease MONDO:0010725 X-linked retinoschisis MONDO:0020605 DOID:0060763 DOID:0080012 X-linked recessive disease @@ -2171,6 +2176,7 @@ MONDO:0011706 Kufor-Rakeb syndrome MONDO:0006025 DOID:0060556 DOID:0050737 autos MONDO:0011717 hyperinsulinism-hyperammonemia syndrome MONDO:0000426 DOID:0070217 DOID:0050736 autosomal dominant disease MONDO:0011719 gastrointestinal stromal tumor MONDO:0002516 DOID:9253 DOID:3119 digestive system cancer MONDO:0011720 spermatogenic failure 3 MONDO:0000426 DOID:0070168 DOID:0050736 autosomal dominant disease +MONDO:0011721 distal myopathy with anterior tibial onset MONDO:0006025 DOID:0111187 DOID:0050737 autosomal recessive disease MONDO:0011730 fumaric aciduria MONDO:0004736 DOID:0111261 DOID:9252 inborn disorder of amino acid metabolism MONDO:0011730 fumaric aciduria MONDO:0006025 DOID:0111261 DOID:0050737 autosomal recessive disease MONDO:0011735 hyper-IgM syndrome type 3 MONDO:0006025 DOID:0060023 DOID:0050737 autosomal recessive disease @@ -3978,7 +3984,7 @@ MONDO:0033551 immunodeficiency 72 with autoinflammation MONDO:0006025 DOID:01120 MONDO:0033551 immunodeficiency 72 with autoinflammation MONDO:0015131 DOID:0112015 DOID:0111962 combined immunodeficiency MONDO:0033554 immunodeficiency 73b with defective neutrophil chemotaxis and lymphopenia MONDO:0000426 DOID:0112061 DOID:0050736 autosomal dominant disease MONDO:0033555 immunodeficiency 73c with defective neutrophil chemotaxis and hypogammaglobulinemia MONDO:0006025 DOID:0112062 DOID:0050737 autosomal recessive disease -MONDO:0033556 muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type b, 15 MONDO:0006025 DOID:0112376 DOID:0050737 autosomal recessive disease +MONDO:0033556 muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type B, 15 MONDO:0006025 DOID:0112376 DOID:0050737 autosomal recessive disease MONDO:0033560 mitochondrial complex 1 deficiency, nuclear type 35 MONDO:0006025 DOID:0112139 DOID:0050737 autosomal recessive disease MONDO:0033560 mitochondrial complex 1 deficiency, nuclear type 35 MONDO:0100133 DOID:0112139 DOID:0060536 mitochondrial complex I deficiency MONDO:0033563 retinitis pigmentosa 90 MONDO:0006025 DOID:0112147 DOID:0050737 autosomal recessive disease diff --git a/src/ontology/reports/doid.subclass.confirmed.robot.tsv b/src/ontology/reports/doid.subclass.confirmed.robot.tsv index 34c9349e..843b645b 100644 --- a/src/ontology/reports/doid.subclass.confirmed.robot.tsv +++ b/src/ontology/reports/doid.subclass.confirmed.robot.tsv @@ -971,6 +971,7 @@ MONDO:0001708 pulmonary sarcoidosis MONDO:0019338 DOID:13406 DOID:11335 sarcoido MONDO:0001709 hypercalcemic sarcoidosis MONDO:0019338 DOID:13407 DOID:11335 sarcoidosis MONDO:0001711 hepatic encephalopathy MONDO:0005560 DOID:13413 DOID:936 brain disorder MONDO:0001713 inherited aplastic anemia MONDO:0015909 DOID:1342 DOID:12449 aplastic anemia +MONDO:0001715 basilar artery occlusion MONDO:0003718 DOID:13446 DOID:5976 occlusion precerebral artery MONDO:0001716 corneal argyrosis MONDO:0000942 DOID:13447 DOID:10124 corneal disorder MONDO:0001717 posterior corneal pigmentation MONDO:0001308 DOID:13448 DOID:11547 corneal deposit MONDO:0001718 scleritis MONDO:0001269 DOID:13452 DOID:11343 scleral disorder @@ -1363,6 +1364,8 @@ MONDO:0002238 ascending colon cancer MONDO:0021063 DOID:218 DOID:219 malignant c MONDO:0002239 post-surgical hypoinsulinemia MONDO:0001933 DOID:2181 DOID:1428 endocrine pancreas disorder MONDO:0002240 acute perichondritis of pinna MONDO:0002246 DOID:221 DOID:222 perichondritis of auricle MONDO:0002246 perichondritis of auricle MONDO:0004795 DOID:222 DOID:9463 otitis externa +MONDO:0002250 basilar artery insufficiency MONDO:0000473 DOID:223 DOID:0050828 arterial disorder +MONDO:0002250 basilar artery insufficiency MONDO:0002254 DOID:223 DOID:225 syndromic disease MONDO:0002251 hepatitis MONDO:0005154 DOID:2237 DOID:409 liver disorder MONDO:0002252 granulomatous hepatitis MONDO:0002251 DOID:2239 DOID:2237 hepatitis MONDO:0002253 spondylosis MONDO:0000836 DOID:2247 DOID:0080010 disease of bone structure @@ -2082,8 +2085,6 @@ MONDO:0003329 ureteral obstruction MONDO:0001926 DOID:5199 DOID:1426 ureteral di MONDO:0003329 ureteral obstruction MONDO:0003330 DOID:5199 DOID:5200 urinary tract obstruction MONDO:0003330 urinary tract obstruction MONDO:0002118 DOID:5200 DOID:18 urinary system disorder MONDO:0003331 ovarian monodermal teratoma MONDO:0005602 DOID:5207 DOID:5567 ovarian teratoma -MONDO:0003332 malignant struma ovarii MONDO:0006980 DOID:5208 DOID:2640 struma ovarii -MONDO:0003333 benign struma ovarii MONDO:0000646 DOID:5209 DOID:0060112 ovarian benign neoplasm MONDO:0003334 demyelinating polyneuropathy MONDO:0001824 DOID:5214 DOID:1389 polyneuropathy MONDO:0003335 chronic polyneuropathy MONDO:0001824 DOID:5221 DOID:1389 polyneuropathy MONDO:0003340 malignant glomus tumor MONDO:0018327 DOID:5233 DOID:2431 glomus tumor @@ -3119,6 +3120,7 @@ MONDO:0004785 blepharitis MONDO:0003382 DOID:9423 DOID:530 eyelid disorder MONDO:0004786 chronic cholangitis MONDO:0004789 DOID:9439 DOID:9446 cholangitis MONDO:0004787 cervical mullerian papilloma MONDO:0000644 DOID:9442 DOID:0060110 cervical benign neoplasm MONDO:0004788 cervix squamous papilloma MONDO:0000644 DOID:9445 DOID:0060110 cervical benign neoplasm +MONDO:0004790 fatty liver disease MONDO:0005154 DOID:9452 DOID:409 liver disorder MONDO:0004794 exposure keratitis MONDO:0004768 DOID:9461 DOID:9368 keratoconjunctivitis MONDO:0004795 otitis externa MONDO:0002776 DOID:9463 DOID:379 external ear disorder MONDO:0004797 mononeuritis of lower limb MONDO:0002121 DOID:9473 DOID:1802 mononeuritis simplex @@ -3711,6 +3713,7 @@ MONDO:0005989 toxoplasmosis MONDO:0005707 DOID:9965 DOID:2113 coccidiosis MONDO:0005990 tracheitis MONDO:0002567 DOID:9392 DOID:3225 tracheal disorder MONDO:0005991 trench fever MONDO:0005664 DOID:11101 DOID:11102 bartonellosis MONDO:0005993 Trichomonas vaginitis urogenital infection MONDO:0002154 DOID:0050269 DOID:1947 trichomoniasis +MONDO:0005994 trichostrongyloidiasis MONDO:0004664 DOID:1255 DOID:883 helminthiasis MONDO:0005995 trichostrongylosis MONDO:0005994 DOID:1254 DOID:1255 trichostrongyloidiasis MONDO:0005997 tricuspid valve stenosis MONDO:0000471 DOID:4078 DOID:0050826 tricuspid valve disorder MONDO:0005998 trombiculiasis MONDO:0004389 DOID:8399 DOID:7894 mite infestation @@ -3751,7 +3754,6 @@ MONDO:0006087 appendix adenocarcinoma MONDO:0003196 DOID:3608 DOID:4902 appendix MONDO:0006109 malignant biphasic mesothelioma MONDO:0006292 DOID:4486 DOID:1790 malignant mesothelioma MONDO:0006118 breast fibrosis MONDO:0003724 DOID:10353 DOID:5997 non-proliferative fibrocystic change of the breast MONDO:0006131 cerebellar liponeurocytoma MONDO:0002913 DOID:6458 DOID:4205 cerebellar neoplasm -MONDO:0006132 cervical adenoid basal carcinoma MONDO:0005131 DOID:6428 DOID:2893 cervical carcinoma MONDO:0006135 cervical clear cell adenocarcinoma MONDO:0005153 DOID:5303 DOID:3702 cervical adenocarcinoma MONDO:0006138 cervical large cell neuroendocrine carcinoma MONDO:0005131 DOID:6659 DOID:2893 cervical carcinoma MONDO:0006140 cervical mucinous adenocarcinoma, minimal deviation variant MONDO:0002742 DOID:6627 DOID:3701 cervical mucinous adenocarcinoma @@ -4123,7 +4125,6 @@ MONDO:0006970 sialolithiasis MONDO:0001142 DOID:12905 DOID:10854 salivary gland MONDO:0006972 silo filler disease MONDO:0005275 DOID:4374 DOID:850 lung disorder MONDO:0006977 spermatocele MONDO:0003150 DOID:11997 DOID:48 male reproductive system disorder MONDO:0006978 splenic infarction MONDO:0002332 DOID:2533 DOID:2529 splenic disorder -MONDO:0006980 struma ovarii MONDO:0002372 DOID:2640 DOID:2641 ovarian monodermal and highly specialized teratoma MONDO:0006981 subacute bacterial endocarditis MONDO:0000565 DOID:4562 DOID:0060000 infective endocarditis MONDO:0006983 subclavian steal syndrome MONDO:0002254 DOID:13002 DOID:225 syndromic disease MONDO:0006986 substernal goiter MONDO:0005397 DOID:13200 DOID:12176 goiter @@ -4385,7 +4386,6 @@ MONDO:0007930 Bernard-Soulier syndrome, type A2, autosomal dominant MONDO:000927 MONDO:0007932 age related macular degeneration 2 MONDO:0005150 DOID:0110015 DOID:10871 age-related macular degeneration MONDO:0007935 cystoid macular edema MONDO:0003005 DOID:4447 DOID:4449 macular retinal edema MONDO:0007938 46,XY sex reversal 4 MONDO:0010765 DOID:0111771 DOID:14448 46,XY complete gonadal dysgenesis -MONDO:0007943 Nager acrofacial dysostosis MONDO:0018237 DOID:5768 DOID:0060379 acrofacial dysostosis MONDO:0007944 Treacher Collins syndrome 1 MONDO:0002457 DOID:0080789 DOID:2908 Treacher-Collins syndrome MONDO:0007946 jaw-winking syndrome MONDO:0003569 DOID:560 DOID:5656 cranial nerve neuropathy MONDO:0007949 Marshall syndrome MONDO:0019287 DOID:0111510 DOID:2121 ectodermal dysplasia syndrome @@ -4393,6 +4393,7 @@ MONDO:0007950 mastocytosis MONDO:0004805 DOID:350 DOID:9500 leukocyte disorder MONDO:0007953 Binder syndrome MONDO:0002232 DOID:14683 DOID:2163 nasal cavity disorder MONDO:0007958 familial medullary thyroid carcinoma MONDO:0015277 DOID:0050547 DOID:3973 medullary thyroid gland carcinoma MONDO:0007959 medulloblastoma MONDO:0002913 DOID:0060104 DOID:4205 cerebellar neoplasm +MONDO:0007964 melanoma, cutaneous malignant, susceptibility to, 2 MONDO:0000426 DOID:10041 DOID:0050736 autosomal dominant disease MONDO:0007969 Melkersson-Rosenthal syndrome MONDO:0002098 DOID:1761 DOID:1756 facial nerve disorder MONDO:0007972 Meniere disease MONDO:0006744 DOID:9849 DOID:9848 endolymphatic hydrops MONDO:0007988 autosomal dominant primary microcephaly MONDO:0000426 DOID:14725 DOID:0050736 autosomal dominant disease @@ -4780,7 +4781,6 @@ MONDO:0009484 primary ciliary dyskinesia 1 MONDO:0016575 DOID:0110594 DOID:9562 MONDO:0009486 autosomal recessive Kenny-Caffey syndrome MONDO:0006025 DOID:0080722 DOID:0050737 autosomal recessive disease MONDO:0009486 autosomal recessive Kenny-Caffey syndrome MONDO:0016516 DOID:0080722 DOID:0080724 Kenny-Caffey syndrome MONDO:0009490 Papillon-Lefevre disease MONDO:0006025 DOID:3389 DOID:0050737 autosomal recessive disease -MONDO:0009490 Papillon-Lefevre disease MONDO:0019287 DOID:3389 DOID:2121 ectodermal dysplasia syndrome MONDO:0009499 Krabbe disease MONDO:0019255 DOID:10587 DOID:1927 sphingolipidosis MONDO:0009509 Landau-Kleffner syndrome MONDO:0000414 DOID:2538 DOID:0050704 childhood electroclinical syndrome MONDO:0009514 Laurence-Moon syndrome MONDO:0002254 DOID:1930 DOID:225 syndromic disease @@ -5179,7 +5179,7 @@ MONDO:0010689 Charcot-Marie-Tooth disease X-linked recessive 4 MONDO:0018994 DOI MONDO:0010693 nystagmus 1, congenital, X-linked MONDO:0005712 DOID:0111790 DOID:9649 congenital nystagmus MONDO:0010699 Charcot-Marie-Tooth disease X-linked recessive 5 MONDO:0018994 DOID:0110210 DOID:0050542 Charcot-Marie-Tooth disease type X MONDO:0010712 panhypopituitarism, X-linked MONDO:0019591 DOID:0111779 DOID:9410 panhypopituitarism -MONDO:0010714 Pelizaeus-Merzbacher disease MONDO:0019046 DOID:3210 DOID:0060786 leukodystrophy +MONDO:0010714 Pelizeaus-Merzbacher spectrum disorder MONDO:0019046 DOID:3210 DOID:0060786 leukodystrophy MONDO:0010720 partial androgen insensitivity syndrome MONDO:0019154 DOID:0080776 DOID:4674 androgen insensitivity syndrome MONDO:0010723 retinitis pigmentosa 2 MONDO:0019200 DOID:0110415 DOID:10584 retinitis pigmentosa MONDO:0010725 X-linked retinoschisis MONDO:0004579 DOID:0060763 DOID:8465 retinoschisis @@ -5302,7 +5302,6 @@ MONDO:0011132 T-cell immunodeficiency, congenital alopecia, and nail dystrophy M MONDO:0011136 Quebec platelet disorder MONDO:0000009 DOID:0111050 DOID:2218 inherited bleeding disorder, platelet-type MONDO:0011137 retinitis pigmentosa 19 MONDO:0019200 DOID:0110354 DOID:10584 retinitis pigmentosa MONDO:0011143 cone-rod dystrophy 6 MONDO:0015993 DOID:0111011 DOID:0050572 cone-rod dystrophy -MONDO:0011151 exudative vitreoretinopathy 4 MONDO:0019516 DOID:0111411 DOID:0050535 exudative vitreoretinopathy MONDO:0011154 acrofacial dysostosis, Palagonia type MONDO:0018237 DOID:0060385 DOID:0060379 acrofacial dysostosis MONDO:0011156 progressive familial intrahepatic cholestasis type 2 MONDO:0015762 DOID:0070222 DOID:0070221 progressive familial intrahepatic cholestasis MONDO:0011159 autosomal dominant nonsyndromic hearing loss 13 MONDO:0019587 DOID:0110545 DOID:0050564 autosomal dominant nonsyndromic hearing loss @@ -5925,7 +5924,6 @@ MONDO:0013029 cerebellar ataxia type 9 MONDO:0020380 DOID:0111747 DOID:1441 auto MONDO:0013033 cerebral palsy, spastic quadriplegic, 2 MONDO:0016215 DOID:0081360 DOID:10970 spastic quadriplegic cerebral palsy MONDO:0013034 keratosis palmoplantaris striata 2 MONDO:0018865 DOID:0081109 DOID:0081105 striate palmoplantar keratoderma MONDO:0013035 orofaciodigital syndrome XI MONDO:0015375 DOID:0060381 DOID:4501 orofaciodigital syndrome -MONDO:0013038 CLOVES syndrome MONDO:0002254 DOID:0080351 DOID:225 syndromic disease MONDO:0013048 hereditary spastic paraplegia 50 MONDO:0019064 DOID:0110802 DOID:2476 hereditary spastic paraplegia MONDO:0013052 retinitis pigmentosa 42 MONDO:0019200 DOID:0110386 DOID:10584 retinitis pigmentosa MONDO:0013058 cystic leukoencephalopathy without megalencephaly MONDO:0019046 DOID:0081007 DOID:10579 leukodystrophy @@ -5978,7 +5976,6 @@ MONDO:0013212 Charcot-Marie-Tooth disease axonal type 2N MONDO:0018993 DOID:0110 MONDO:0013215 autosomal recessive nonsyndromic hearing loss 79 MONDO:0019588 DOID:0110526 DOID:0050565 hearing loss, autosomal recessive MONDO:0013216 Diamond-Blackfan anemia 9 MONDO:0015253 DOID:0111884 DOID:1339 Diamond-Blackfan anemia MONDO:0013217 Diamond-Blackfan anemia 10 MONDO:0015253 DOID:0111888 DOID:1339 Diamond-Blackfan anemia -MONDO:0013218 exudative vitreoretinopathy 5 MONDO:0019516 DOID:0111408 DOID:0050535 exudative vitreoretinopathy MONDO:0013220 hemochromatosis type 2B MONDO:0019257 DOID:0111032 DOID:0111034 hemochromatosis type 2 MONDO:0013221 Miyoshi muscular dystrophy 2 MONDO:0009685 DOID:0070200 DOID:0070198 Miyoshi myopathy MONDO:0013222 Miyoshi muscular dystrophy 3 MONDO:0009685 DOID:0070201 DOID:0070198 Miyoshi myopathy @@ -6330,7 +6327,6 @@ MONDO:0014068 cone-rod dystrophy 17 MONDO:0015993 DOID:0111023 DOID:0050572 cone MONDO:0014070 oculocutaneous albinism type 7 MONDO:0018910 DOID:0070100 DOID:0050632 oculocutaneous albinism MONDO:0014072 D,L-2-hydroxyglutaric aciduria MONDO:0016001 DOID:0111619 DOID:0050573 2-hydroxyglutaric aciduria MONDO:0014076 dyskeratosis congenita, autosomal recessive 5 MONDO:0006025 DOID:0070022 DOID:0050737 autosomal recessive disease -MONDO:0014076 dyskeratosis congenita, autosomal recessive 5 MONDO:0015780 DOID:0070022 DOID:2729 dyskeratosis congenita MONDO:0014078 platelet-type bleeding disorder 15 MONDO:0000009 DOID:0111053 DOID:2218 inherited bleeding disorder, platelet-type MONDO:0014084 ataxia with oculomotor apraxia type 3 MONDO:0015244 DOID:0060557 DOID:0050950 autosomal recessive cerebellar ataxia MONDO:0014087 Smith-McCort dysplasia 2 MONDO:0015799 DOID:0081271 DOID:0060247 Smith-McCort dysplasia @@ -7651,7 +7647,7 @@ MONDO:0033533 combined oxidative phosphorylation deficiency 45 MONDO:0000732 DOI MONDO:0033534 combined oxidative phosphorylation deficiency 46 MONDO:0000732 DOID:0112115 DOID:0060286 combined oxidative phosphorylation deficiency MONDO:0033537 combined oxidative phosphorylation deficiency 47 MONDO:0000732 DOID:0112114 DOID:0060286 combined oxidative phosphorylation deficiency MONDO:0033548 myopathy, congenital, with diaphragmatic defects, respiratory insufficiency, and dysmorphic facies MONDO:0019952 DOID:0081349 DOID:0081337 congenital myopathy -MONDO:0033556 muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type b, 15 MONDO:0000172 DOID:0112376 DOID:0112375 muscular dystrophy-dystroglycanopathy, type B +MONDO:0033556 muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type B, 15 MONDO:0000172 DOID:0112376 DOID:0112375 muscular dystrophy-dystroglycanopathy, type B MONDO:0033563 retinitis pigmentosa 90 MONDO:0019200 DOID:0112147 DOID:10584 retinitis pigmentosa MONDO:0033566 combined oxidative phosphorylation deficiency 48 MONDO:0000732 DOID:0112112 DOID:0060286 combined oxidative phosphorylation deficiency MONDO:0033614 spastic paraplegia 83, autosomal recessive MONDO:0019064 DOID:0112346 DOID:2476 hereditary spastic paraplegia @@ -7775,7 +7771,7 @@ MONDO:0100116 Middle East respiratory syndrome MONDO:0020753 DOID:0080642 DOID:0 MONDO:0100135 Dravet syndrome MONDO:0100062 DOID:0080422 DOID:0112202 developmental and epileptic encephalopathy MONDO:0100164 permanent neonatal diabetes mellitus MONDO:0016391 DOID:0060639 DOID:11717 neonatal diabetes mellitus MONDO:0100211 growth hormone insensitivity with immune dysregulation 1, autosomal recessive MONDO:0006025 DOID:0080836 DOID:0050737 autosomal recessive disease -MONDO:0100213 IFAP syndrome with or without BRESHECK syndrome MONDO:0020605 DOID:0111821 DOID:0080012 X-linked recessive disease +MONDO:0100213 IFAP syndrome 1, with or without BRESHECK syndrome MONDO:0020605 DOID:0111821 DOID:0080012 X-linked recessive disease MONDO:0100216 DICER1-related tumor predisposition MONDO:0002254 DOID:0081063 DOID:225 syndromic disease MONDO:0100218 arthrogryposis multiplex congenita 5 MONDO:0015168 DOID:0080981 DOID:0080954 arthrogryposis multiplex congenita MONDO:0100223 mitochondrial complex I deficiency, nuclear type MONDO:0100133 DOID:0112065 DOID:0060536 mitochondrial complex I deficiency diff --git a/src/scripts/sync_subclassof.py b/src/scripts/sync_subclassof.py index a7a85bdf..047d769b 100644 --- a/src/scripts/sync_subclassof.py +++ b/src/scripts/sync_subclassof.py @@ -308,7 +308,7 @@ def sync_subclassof( # after. It could be that I invalidated the cache somehow without realizing it. Rerunning cache fixed it though. missing_ancestor_rels = rels_indirect_mondo_mondo.union(rels_direct_mondo_mondo).difference(ancestors_mondo_mondo) if missing_ancestor_rels: - rels_for_printing = [rel for rel in missing_ancestor_rels[:5]] + rels_for_printing = [rel for rel in list(missing_ancestor_rels)[:5]] logging.error( 'Detected error in consistency of sets of terms gathered from Mondo.\n' f'\n 1. Mondo SCR ancestors: {len(ancestors_mondo_mondo)}' From c124fd209095ca0376b2e2d3978524f86435e9ec Mon Sep 17 00:00:00 2001 From: Nico Matentzoglu Date: Fri, 26 Jan 2024 14:47:31 +0200 Subject: [PATCH 7/9] Update ORDO sync --- .../ordo.subclass.added-obsolete.robot.tsv | 13539 +++++++++++++++- .../reports/ordo.subclass.added.robot.tsv | 1268 ++ .../reports/ordo.subclass.confirmed.robot.tsv | 56 +- 3 files changed, 14816 insertions(+), 47 deletions(-) diff --git a/src/ontology/reports/ordo.subclass.added-obsolete.robot.tsv b/src/ontology/reports/ordo.subclass.added-obsolete.robot.tsv index 0307a82a..0307754d 100644 --- a/src/ontology/reports/ordo.subclass.added-obsolete.robot.tsv +++ b/src/ontology/reports/ordo.subclass.added-obsolete.robot.tsv @@ -1,61 +1,13590 @@ subject_mondo_id subject_mondo_label object_mondo_id subject_source_id object_source_id object_mondo_label ID AI obo:mondo#excluded_subClassOf >A oboInOwl:source MONDO:0000001 disease MONDO:8000034 Orphanet:377788 Orphanet:557493 obsolete disorder +MONDO:0000023 infantile liver failure MONDO:0015114 Orphanet:464724 Orphanet:101939 obsolete rare parenchymal liver disease +MONDO:0000023 infantile liver failure MONDO:0015508 Orphanet:464724 Orphanet:156604 obsolete hereditary parenchymatous liver disease +MONDO:0000044 hereditary hypophosphatemic rickets MONDO:0019744 Orphanet:437 Orphanet:93603 obsolete rare renal tubular disease +MONDO:0000087 polymicrogyria MONDO:0015572 Orphanet:35981 Orphanet:163209 obsolete cerebral malformation due to abnormal neuronal migration +MONDO:0000087 polymicrogyria MONDO:0035863 Orphanet:35981 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0000088 precocious puberty MONDO:0019590 Orphanet:95708 Orphanet:90692 obsolete rare endocrine growth disease +MONDO:0000107 auriculocondylar syndrome MONDO:0015334 Orphanet:137888 Orphanet:139036 obsolete branchial arch or oral-acral syndrome +MONDO:0000107 auriculocondylar syndrome MONDO:0015482 Orphanet:137888 Orphanet:155896 obsolete otomandibular dysplasia +MONDO:0000107 auriculocondylar syndrome MONDO:0026189 Orphanet:137888 Orphanet:183576 obsolete genetic branchial arch or oral-acral syndrome +MONDO:0000107 auriculocondylar syndrome MONDO:8000032 Orphanet:137888 Orphanet:377789 obsolete malformation syndrome +MONDO:0000110 bifid nose MONDO:0015412 Orphanet:2695 Orphanet:141234 obsolete median facial cleft +MONDO:0000110 bifid nose MONDO:0015503 Orphanet:2695 Orphanet:156246 obsolete nose and cavum anomaly +MONDO:0000110 bifid nose MONDO:0033334 Orphanet:2695 Orphanet:435606 obsolete genetic nose and cavum anomaly +MONDO:0000110 bifid nose MONDO:8000032 Orphanet:2695 Orphanet:377789 obsolete malformation syndrome +MONDO:0000127 geleophysic dysplasia MONDO:8000032 Orphanet:2623 Orphanet:377789 obsolete malformation syndrome +MONDO:0000133 immunodeficiency-centromeric instability-facial anomalies syndrome MONDO:0015707 Orphanet:2268 Orphanet:169346 obsolete DNA repair defect other than combined T-cell and B-cell immunodeficiencies +MONDO:0000133 immunodeficiency-centromeric instability-facial anomalies syndrome MONDO:0035862 Orphanet:2268 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome +MONDO:0000133 immunodeficiency-centromeric instability-facial anomalies syndrome MONDO:8000032 Orphanet:2268 Orphanet:377789 obsolete malformation syndrome +MONDO:0000141 mosaic variegated aneuploidy syndrome MONDO:0015945 Orphanet:1052 Orphanet:183422 obsolete polymalformative genetic syndrome with increased risk of developing cancer +MONDO:0000141 mosaic variegated aneuploidy syndrome MONDO:0020222 Orphanet:1052 Orphanet:98638 obsolete rare disease with glaucoma as a major feature +MONDO:0000141 mosaic variegated aneuploidy syndrome MONDO:0020226 Orphanet:1052 Orphanet:98642 obsolete chromosomal anomaly with cataract +MONDO:0000141 mosaic variegated aneuploidy syndrome MONDO:0035863 Orphanet:1052 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0000141 mosaic variegated aneuploidy syndrome MONDO:8000032 Orphanet:1052 Orphanet:377789 obsolete malformation syndrome +MONDO:0000153 transposition of the great arteries MONDO:0020285 Orphanet:216675 Orphanet:98717 obsolete transposition of the great arteries and conotruncal cardiac anomaly +MONDO:0000170 microphthalmia, isolated, with coloboma MONDO:8000032 Orphanet:98938 Orphanet:377789 obsolete malformation syndrome +MONDO:0000171 muscular dystrophy-dystroglycanopathy, type A MONDO:0016157 Orphanet:899 Orphanet:207122 obsolete qualitative or quantitative defects of fukutin +MONDO:0000171 muscular dystrophy-dystroglycanopathy, type A MONDO:0016182 Orphanet:899 Orphanet:209024 obsolete qualitative or quantitative defects of protein O-mannose beta1, 2N-acetylglucosaminyltransferase +MONDO:0000171 muscular dystrophy-dystroglycanopathy, type A MONDO:0017745 Orphanet:899 Orphanet:309469 obsolete disorder of O-mannosylglycan synthesis +MONDO:0000171 muscular dystrophy-dystroglycanopathy, type A MONDO:0018132 Orphanet:899 Orphanet:352687 obsolete congenital muscular alpha-dystroglycanopathy with brain and eye anomalies +MONDO:0000171 muscular dystrophy-dystroglycanopathy, type A MONDO:0018287 Orphanet:899 Orphanet:371071 obsolete congenital disorder of glycosylation with epilepsy as a major feature +MONDO:0000171 muscular dystrophy-dystroglycanopathy, type A MONDO:0018296 Orphanet:899 Orphanet:371235 obsolete congenital disorder of glycosylation with developmental anomaly +MONDO:0000171 muscular dystrophy-dystroglycanopathy, type A MONDO:0034954 Orphanet:899 Orphanet:519327 obsolete syndromic vitreoretinopathy +MONDO:0000179 Neu-Laxova syndrome MONDO:0017272 Orphanet:2671 Orphanet:281238 obsolete autosomal ichthyosis syndrome with prominent neurologics signs +MONDO:0000179 Neu-Laxova syndrome MONDO:0017273 Orphanet:2671 Orphanet:281241 obsolete autosomal ichthyosis syndrome with fatal disease course +MONDO:0000179 Neu-Laxova syndrome MONDO:0020154 Orphanet:2671 Orphanet:98563 obsolete microblepharon-ablephara syndrome +MONDO:0000179 Neu-Laxova syndrome MONDO:8000032 Orphanet:2671 Orphanet:377789 obsolete malformation syndrome +MONDO:0000193 cortisone reductase deficiency MONDO:0015860 Orphanet:168588 Orphanet:180208 obsolete anomaly of puberty or/and menstrual cycle +MONDO:0000193 cortisone reductase deficiency MONDO:0016072 Orphanet:168588 Orphanet:202940 obsolete anomaly of puberty or/and menstrual cycle of genetic origin +MONDO:0000193 cortisone reductase deficiency MONDO:8000032 Orphanet:168588 Orphanet:377789 obsolete malformation syndrome +MONDO:0000200 Zimmermann-Laband syndrome MONDO:0015336 Orphanet:3473 Orphanet:139042 obsolete malformation syndrome with odontal and/or periodontal component +MONDO:0000200 Zimmermann-Laband syndrome MONDO:0026190 Orphanet:3473 Orphanet:183580 obsolete genetic malformation syndrome with odontal and/or periodontal component +MONDO:0000200 Zimmermann-Laband syndrome MONDO:0035863 Orphanet:3473 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0000200 Zimmermann-Laband syndrome MONDO:8000032 Orphanet:3473 Orphanet:377789 obsolete malformation syndrome +MONDO:0000211 striatal degeneration, autosomal dominant MONDO:0017635 Orphanet:228169 Orphanet:306666 obsolete parkinsonian syndrome due to neurodegenerative disease +MONDO:0000211 striatal degeneration, autosomal dominant MONDO:0017661 Orphanet:228169 Orphanet:307055 obsolete rare parkinsonian syndrome due to genetic neurodegenerative disease +MONDO:0000212 hypercalcemia, infantile MONDO:0015970 Orphanet:300547 Orphanet:183634 obsolete rare genetic parathyroid disease and phosphocalcic metabolism disorder +MONDO:0000212 hypercalcemia, infantile MONDO:0019061 Orphanet:300547 Orphanet:68415 obsolete rare parathyroid disease and phosphocalcic metabolism anomaly +MONDO:0000212 hypercalcemia, infantile MONDO:0019743 Orphanet:300547 Orphanet:93593 obsolete nephropathy secondary to a storage or other metabolic disease +MONDO:0000437 cerebellar ataxia MONDO:0020009 Orphanet:102002 Orphanet:98006 obsolete rare neurologic disease +MONDO:0000447 autosomal dominant polycystic liver disease MONDO:0015116 Orphanet:2924 Orphanet:101941 obsolete rare biliary tract disease +MONDO:0000447 autosomal dominant polycystic liver disease MONDO:0015509 Orphanet:2924 Orphanet:156607 obsolete hereditary biliary tract disease +MONDO:0000447 autosomal dominant polycystic liver disease MONDO:8000032 Orphanet:2924 Orphanet:377789 obsolete malformation syndrome +MONDO:0000453 short QT syndrome MONDO:0015110 Orphanet:51083 Orphanet:101934 obsolete genetic cardiac rhythm disease +MONDO:0000455 cone dystrophy MONDO:0022399 Orphanet:1871 Orphanet:156171 obsolete retinal ciliopathy due to mutation in the RPGR gene +MONDO:0000456 cerebral creatine deficiency syndrome MONDO:0016401 Orphanet:79172 Orphanet:225696 obsolete energy metabolism disorder with epilepsy +MONDO:0000463 Ochoa syndrome MONDO:0019721 Orphanet:2704 Orphanet:93547 obsolete syndromic renal or urinary tract malformation +MONDO:0000463 Ochoa syndrome MONDO:8000032 Orphanet:2704 Orphanet:377789 obsolete malformation syndrome +MONDO:0000507 inclusion body myopathy with Paget disease of bone and frontotemporal dementia MONDO:0020137 Orphanet:52430 Orphanet:98535 obsolete frontotemporal degeneration with dementia +MONDO:0000507 inclusion body myopathy with Paget disease of bone and frontotemporal dementia MONDO:0028868 Orphanet:52430 Orphanet:276061 obsolete genetic frontotemporal degeneration with dementia +MONDO:0000507 inclusion body myopathy with Paget disease of bone and frontotemporal dementia MONDO:0800084 Orphanet:52430 Orphanet:93444 obsolete primary bone dysplasia with increased bone density +MONDO:0000507 inclusion body myopathy with Paget disease of bone and frontotemporal dementia MONDO:0800089 Orphanet:52430 Orphanet:93450 obsolete primary bone dysplasia with disorganized development of skeletal components +MONDO:0000565 infective endocarditis MONDO:0015575 Orphanet:570762 Orphanet:163582 obsolete rare bacterial infectious disease +MONDO:0000645 fallopian tube benign neoplasm MONDO:0015861 Orphanet:180237 Orphanet:180220 obsolete rare uterine adnexal tumor +MONDO:0000754 anal fistula MONDO:0015245 Orphanet:228113 Orphanet:117569 obsolete rare intestinal disease +MONDO:0000754 anal fistula MONDO:0015621 Orphanet:228113 Orphanet:165711 obsolete rare abdominal surgical disease +MONDO:0000754 anal fistula MONDO:0032014 Orphanet:228113 Orphanet:377793 obsolete particular clinical situation in a disease or syndrome +MONDO:0000827 salmonellosis MONDO:0015575 Orphanet:795 Orphanet:163582 obsolete rare bacterial infectious disease +MONDO:0000845 fibrous dysplasia MONDO:0035682 Orphanet:249 Orphanet:595216 obsolete fibrous dysplasia/McCune-Albright syndrome +MONDO:0000845 fibrous dysplasia MONDO:8000032 Orphanet:249 Orphanet:377789 obsolete malformation syndrome +MONDO:0000863 myopathy, lactic acidosis, and sideroblastic anemia MONDO:0018157 Orphanet:2598 Orphanet:35696 obsolete mitochondrial disorder due to a defect in mitochondrial protein synthesis +MONDO:0000863 myopathy, lactic acidosis, and sideroblastic anemia MONDO:0035862 Orphanet:2598 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome +MONDO:0000902 agenesis of the corpus callosum with peripheral neuropathy MONDO:0016055 Orphanet:1496 Orphanet:199639 obsolete syndrome with corpus callosum agenesis /dysgenesis as a major feature +MONDO:0000902 agenesis of the corpus callosum with peripheral neuropathy MONDO:0016131 Orphanet:1496 Orphanet:207012 obsolete spinal muscular atrophy associated with central nervous system anomaly +MONDO:0000902 agenesis of the corpus callosum with peripheral neuropathy MONDO:0017122 Orphanet:1496 Orphanet:269573 obsolete genetic syndrome with corpus callosum agenesis/dysgenesis as a major feature +MONDO:0000902 agenesis of the corpus callosum with peripheral neuropathy MONDO:0035863 Orphanet:1496 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0000903 myoclonus-dystonia syndrome MONDO:0017651 Orphanet:36899 Orphanet:306750 obsolete primary myoclonus +MONDO:0000903 myoclonus-dystonia syndrome MONDO:0018329 Orphanet:36899 Orphanet:391711 obsolete persistent combined dystonia +MONDO:0000914 cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1 MONDO:0018787 Orphanet:136 Orphanet:477754 obsolete genetic cerebral small vessel disease +MONDO:0000914 cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1 MONDO:0020144 Orphanet:136 Orphanet:98549 obsolete cerebrovascular dementia +MONDO:0001309 oculomotor nerve paralysis MONDO:0034965 Orphanet:98685 Orphanet:519349 obsolete rare ophthalmic disorder with cranial nerve involvement +MONDO:0001325 penile cancer MONDO:0015931 Orphanet:398043 Orphanet:182114 obsolete rare urogenital tumor +MONDO:0001444 Chagas disease MONDO:0015577 Orphanet:3386 Orphanet:163588 obsolete rare parasitic disease +MONDO:0001569 acoustic neuroma MONDO:0020035 Orphanet:252175 Orphanet:98061 obsolete rare otorhinolaryngologic tumor +MONDO:0001569 acoustic neuroma MONDO:8000031 Orphanet:252175 Orphanet:557494 obsolete subtype of a disorder +MONDO:0001586 mucopolysaccharidosis type 1 MONDO:0019058 Orphanet:579 Orphanet:68385 obsolete neurometabolic disease +MONDO:0001586 mucopolysaccharidosis type 1 MONDO:0035862 Orphanet:579 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome +MONDO:0001595 choreatic disease MONDO:0017646 Orphanet:1429 Orphanet:306719 obsolete neurodegenerative disease with chorea +MONDO:0001703 color vision disorder MONDO:0015107 Orphanet:98658 Orphanet:101435 obsolete rare genetic eye disease +MONDO:0001703 color vision disorder MONDO:0020004 Orphanet:98658 Orphanet:97966 obsolete rare eye disease +MONDO:0001713 inherited aplastic anemia MONDO:0015972 Orphanet:68383 Orphanet:183651 obsolete rare constitutional anemia +MONDO:0001734 tuberous sclerosis MONDO:0015651 Orphanet:805 Orphanet:166466 obsolete neurocutaneous syndrome with epilepsy +MONDO:0001734 tuberous sclerosis MONDO:0015878 Orphanet:805 Orphanet:180772 obsolete rare disease with autism +MONDO:0001734 tuberous sclerosis MONDO:0015945 Orphanet:805 Orphanet:183422 obsolete polymalformative genetic syndrome with increased risk of developing cancer +MONDO:0001734 tuberous sclerosis MONDO:0015950 Orphanet:805 Orphanet:183487 obsolete inherited skin tumor +MONDO:0001734 tuberous sclerosis MONDO:0016756 Orphanet:805 Orphanet:252190 obsolete inherited nervous system cancer-predisposing syndrome +MONDO:0001734 tuberous sclerosis MONDO:0017891 Orphanet:805 Orphanet:319328 obsolete inherited renal cancer-predisposing syndrome +MONDO:0001734 tuberous sclerosis MONDO:0019300 Orphanet:805 Orphanet:79386 obsolete rare skin tumor or hamartoma +MONDO:0001734 tuberous sclerosis MONDO:0020063 Orphanet:805 Orphanet:98196 obsolete malformation syndrome with hamartosis +MONDO:0001734 tuberous sclerosis MONDO:0022409 Orphanet:805 Orphanet:156162 obsolete nephropathy-associated ciliopathy +MONDO:0001734 tuberous sclerosis MONDO:0035471 Orphanet:805 Orphanet:568047 obsolete disorder with multisystemic involvement and primary lymphedema +MONDO:0001734 tuberous sclerosis MONDO:0035862 Orphanet:805 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome +MONDO:0001734 tuberous sclerosis MONDO:0957001 Orphanet:805 Orphanet:183481 obsolete hereditary mixed dermis disorder +MONDO:0001790 spinal cord lipoma MONDO:0017059 Orphanet:645276 Orphanet:268357 obsolete neural tube closure defect +MONDO:0001881 toxic shock syndrome MONDO:0015575 Orphanet:36234 Orphanet:163582 obsolete rare bacterial infectious disease +MONDO:0001945 postencephalitic Parkinson disease MONDO:0017635 Orphanet:97349 Orphanet:306666 obsolete parkinsonian syndrome due to neurodegenerative disease +MONDO:0001945 postencephalitic Parkinson disease MONDO:0020141 Orphanet:97349 Orphanet:98542 obsolete infectious disease with dementia +MONDO:0001971 farmer's lung disease MONDO:0020537 Orphanet:99906 Orphanet:99909 obsolete occupational allergic alveolitis +MONDO:0002013 lymphangioma MONDO:0016233 Orphanet:2415 Orphanet:211255 obsolete rare lymphatic system malformation +MONDO:0002096 malignant conjunctival melanoma MONDO:0015121 Orphanet:617910 Orphanet:101950 obsolete rare eye tumor +MONDO:0002145 disorder of sexual differentiation MONDO:0015106 Orphanet:90771 Orphanet:101433 obsolete rare urogenital disease +MONDO:0002145 disorder of sexual differentiation MONDO:0020005 Orphanet:90771 Orphanet:97978 obsolete rare endocrine disease +MONDO:0002158 fallopian tube cancer MONDO:0015861 Orphanet:180242 Orphanet:180220 obsolete rare uterine adnexal tumor +MONDO:0002303 central retinal vein occlusion MONDO:0032014 Orphanet:411527 Orphanet:377793 obsolete particular clinical situation in a disease or syndrome +MONDO:0002413 glycogen storage disease I MONDO:0015115 Orphanet:364 Orphanet:101940 obsolete rare genetic metabolic liver disease +MONDO:0002413 glycogen storage disease I MONDO:0019743 Orphanet:364 Orphanet:93593 obsolete nephropathy secondary to a storage or other metabolic disease +MONDO:0002429 idiopathic interstitial pneumonia MONDO:0017027 Orphanet:98300 Orphanet:264740 obsolete primary interstitial lung disease specific to adulthood +MONDO:0002441 Jervell and Lange-Nielsen syndrome MONDO:0019589 Orphanet:90647 Orphanet:90642 obsolete syndromic genetic hearing loss +MONDO:0002457 Treacher-Collins syndrome MONDO:0015334 Orphanet:861 Orphanet:139036 obsolete branchial arch or oral-acral syndrome +MONDO:0002457 Treacher-Collins syndrome MONDO:0019589 Orphanet:861 Orphanet:90642 obsolete syndromic genetic hearing loss +MONDO:0002457 Treacher-Collins syndrome MONDO:0020157 Orphanet:861 Orphanet:98566 obsolete syndromic palpebral coloboma +MONDO:0002457 Treacher-Collins syndrome MONDO:0020167 Orphanet:861 Orphanet:98576 obsolete malposition of external canthus +MONDO:0002457 Treacher-Collins syndrome MONDO:0020169 Orphanet:861 Orphanet:98578 obsolete rare disorder with ptosis +MONDO:0002457 Treacher-Collins syndrome MONDO:0020253 Orphanet:861 Orphanet:98683 obsolete syndrome with a symptomatic strabismus +MONDO:0002457 Treacher-Collins syndrome MONDO:0024148 Orphanet:861 Orphanet:138050 obsolete Pierre Robin syndrome associated with branchial archs anomalies +MONDO:0002457 Treacher-Collins syndrome MONDO:0026189 Orphanet:861 Orphanet:183576 obsolete genetic branchial arch or oral-acral syndrome +MONDO:0002457 Treacher-Collins syndrome MONDO:0043008 Orphanet:861 Orphanet:330206 obsolete genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability +MONDO:0002457 Treacher-Collins syndrome MONDO:8000032 Orphanet:861 Orphanet:377789 obsolete malformation syndrome +MONDO:0002474 primary hyperoxaluria MONDO:0019743 Orphanet:416 Orphanet:93593 obsolete nephropathy secondary to a storage or other metabolic disease +MONDO:0002520 hepatic porphyria MONDO:0015115 Orphanet:95157 Orphanet:101940 obsolete rare genetic metabolic liver disease +MONDO:0002520 hepatic porphyria MONDO:0016133 Orphanet:95157 Orphanet:207018 obsolete rare hereditary metabolic disease with peripheral neuropathy +MONDO:0002571 primary central nervous system lymphoma MONDO:0020036 Orphanet:46135 Orphanet:98062 obsolete rare nervous system tumor +MONDO:0002588 thymoma type A MONDO:8000031 Orphanet:263310 Orphanet:557494 obsolete subtype of a disorder +MONDO:0002687 superior mesenteric artery syndrome MONDO:0015245 Orphanet:622099 Orphanet:117569 obsolete rare intestinal disease +MONDO:0002687 superior mesenteric artery syndrome MONDO:0015621 Orphanet:622099 Orphanet:165711 obsolete rare abdominal surgical disease +MONDO:0002697 ovarian gonadoblastoma MONDO:0018191 Orphanet:206484 Orphanet:363472 obsolete tumor of testis and paratestis +MONDO:0002718 central nervous system teratoma MONDO:0016738 Orphanet:252018 Orphanet:251995 obsolete primary germ cell tumor of central nervous system +MONDO:0002718 central nervous system teratoma MONDO:8000031 Orphanet:252018 Orphanet:557494 obsolete subtype of a disorder +MONDO:0002882 colon neuroendocrine neoplasm MONDO:0018512 Orphanet:100080 Orphanet:423991 obsolete rare epithelial tumor of colon +MONDO:0002882 colon neuroendocrine neoplasm MONDO:0028618 Orphanet:100080 Orphanet:481508 obsolete gastroenteric neuroendocrine neoplasm +MONDO:0002955 vulva basal cell carcinoma MONDO:8000031 Orphanet:494451 Orphanet:557494 obsolete subtype of a disorder +MONDO:0003010 multilocular clear cell renal cell carcinoma MONDO:8000031 Orphanet:319287 Orphanet:557494 obsolete subtype of a disorder +MONDO:0003111 gastric neuroendocrine neoplasm MONDO:0018972 Orphanet:100075 Orphanet:63443 obsolete rare epithelial tumor of stomach +MONDO:0003111 gastric neuroendocrine neoplasm MONDO:0028618 Orphanet:100075 Orphanet:481508 obsolete gastroenteric neuroendocrine neoplasm +MONDO:0003125 testicular sex cord-stromal neoplasm MONDO:0018191 Orphanet:363489 Orphanet:363472 obsolete tumor of testis and paratestis +MONDO:0003198 small intestine adenocarcinoma MONDO:0018508 Orphanet:104075 Orphanet:423957 obsolete rare carcinoma of small intestine +MONDO:0003414 skin pilomatrix carcinoma MONDO:0019300 Orphanet:499182 Orphanet:79386 obsolete rare skin tumor or hamartoma +MONDO:0003582 hereditary breast ovarian cancer syndrome MONDO:0015870 Orphanet:145 Orphanet:180257 obsolete rare malignant breast tumor +MONDO:0003582 hereditary breast ovarian cancer syndrome MONDO:0015980 Orphanet:145 Orphanet:183731 obsolete rare genetic gynecological and obstetrical diseases +MONDO:0003630 pancreatic serous cystadenocarcinoma MONDO:0016314 Orphanet:424073 Orphanet:217074 obsolete rare carcinoma of pancreas +MONDO:0003646 rectum neuroendocrine neoplasm MONDO:0018514 Orphanet:100081 Orphanet:423998 obsolete rare epithelial tumor of rectum +MONDO:0003646 rectum neuroendocrine neoplasm MONDO:0028618 Orphanet:100081 Orphanet:481508 obsolete gastroenteric neuroendocrine neoplasm +MONDO:0003649 esophageal neuroendocrine tumor MONDO:0015881 Orphanet:506136 Orphanet:180821 obsolete gastroesophageal tumor +MONDO:0003649 esophageal neuroendocrine tumor MONDO:0028618 Orphanet:506136 Orphanet:481508 obsolete gastroenteric neuroendocrine neoplasm +MONDO:0003778 inborn error of immunity MONDO:0015984 Orphanet:101997 Orphanet:183770 obsolete rare genetic immune disease +MONDO:0003778 inborn error of immunity MONDO:0020008 Orphanet:101997 Orphanet:98004 obsolete rare immune disease +MONDO:0003789 hereditary papillary renal cell carcinoma MONDO:0017891 Orphanet:47044 Orphanet:319328 obsolete inherited renal cancer-predisposing syndrome +MONDO:0003832 complement deficiency MONDO:0015136 Orphanet:459345 Orphanet:101992 obsolete immunodeficiency due to a genetic complement cascade protein anomaly +MONDO:0004114 urinary bladder small cell neuroendocrine carcinoma MONDO:0015081 Orphanet:284400 Orphanet:100101 obsolete neuroendocrine tumor with other location +MONDO:0004114 urinary bladder small cell neuroendocrine carcinoma MONDO:0020032 Orphanet:284400 Orphanet:98058 obsolete rare urinary tract tumor +MONDO:0004187 nodular fasciitis MONDO:0019099 Orphanet:477742 Orphanet:71209 obsolete rare soft tissue tumor +MONDO:0004216 pineal region germinoma MONDO:0016738 Orphanet:91352 Orphanet:251995 obsolete primary germ cell tumor of central nervous system +MONDO:0004216 pineal region germinoma MONDO:0019833 Orphanet:91352 Orphanet:95503 obsolete pituitary hormone deficiency from tumoral origin +MONDO:0004216 pineal region germinoma MONDO:8000031 Orphanet:91352 Orphanet:557494 obsolete subtype of a disorder +MONDO:0004234 chronic lymphoproliferative disorder of NK-cells MONDO:0034872 Orphanet:512017 Orphanet:512034 obsolete large granular lymphocyte leukemia +MONDO:0004285 pancreatic intraductal papillary-mucinous carcinoma MONDO:0016314 Orphanet:424058 Orphanet:217074 obsolete rare carcinoma of pancreas +MONDO:0004351 intraocular lymphoma MONDO:0015121 Orphanet:279904 Orphanet:101950 obsolete rare eye tumor +MONDO:0004542 cervical adenosquamous carcinoma, glassy cell variant MONDO:0016274 Orphanet:213833 Orphanet:213761 obsolete rare cancer of cervix uteri +MONDO:0004604 Hodgkin's lymphoma, lymphocytic-histiocytic predominance MONDO:8000031 Orphanet:98845 Orphanet:557494 obsolete subtype of a disorder +MONDO:0004620 Hodgkin's lymphoma, lymphocytic depletion MONDO:8000031 Orphanet:98846 Orphanet:557494 obsolete subtype of a disorder +MONDO:0004633 Hodgkin's lymphoma, mixed cellularity MONDO:8000031 Orphanet:98844 Orphanet:557494 obsolete subtype of a disorder +MONDO:0004691 autosomal dominant polycystic kidney disease MONDO:0018396 Orphanet:730 Orphanet:399824 obsolete rare male fertility disorder with obstructive azoospermia +MONDO:0004691 autosomal dominant polycystic kidney disease MONDO:0018409 Orphanet:730 Orphanet:400003 obsolete rare genetic disorder with obstructive azoospermia +MONDO:0004691 autosomal dominant polycystic kidney disease MONDO:0022409 Orphanet:730 Orphanet:156162 obsolete nephropathy-associated ciliopathy +MONDO:0004745 priapism MONDO:0015106 Orphanet:140949 Orphanet:101433 obsolete rare urogenital disease +MONDO:0004745 priapism MONDO:0032014 Orphanet:140949 Orphanet:377793 obsolete particular clinical situation in a disease or syndrome +MONDO:0004933 hypoplastic left heart syndrome MONDO:8000030 Orphanet:2248 Orphanet:377791 obsolete morphological anomaly +MONDO:0004976 amyotrophic lateral sclerosis MONDO:0015918 Orphanet:803 Orphanet:182070 obsolete rare neurodegenerative disease +MONDO:0004994 cardiomyopathy MONDO:0019996 Orphanet:167848 Orphanet:97929 obsolete rare cardiac disease +MONDO:0005006 clear cell sarcoma of kidney MONDO:0015963 Orphanet:457246 Orphanet:183595 obsolete inherited renal tumor +MONDO:0005006 clear cell sarcoma of kidney MONDO:0019749 Orphanet:457246 Orphanet:93619 obsolete rare renal tumor +MONDO:0005029 essential thrombocythemia MONDO:0016637 Orphanet:3318 Orphanet:248404 obsolete thrombotic disorder due to an acquired platelet anomaly +MONDO:0005055 Kaposi's sarcoma MONDO:0016228 Orphanet:33276 Orphanet:211237 obsolete rare vascular tumor +MONDO:0005077 pertussis MONDO:0015575 Orphanet:1489 Orphanet:163582 obsolete rare bacterial infectious disease +MONDO:0005081 preeclampsia MONDO:0015582 Orphanet:275555 Orphanet:163637 obsolete rare disorder related with pregnancy, childbirth and puerperium +MONDO:0005086 renal cell carcinoma MONDO:0019749 Orphanet:217071 Orphanet:93619 obsolete rare renal tumor +MONDO:0005091 severe acute respiratory syndrome MONDO:0015118 Orphanet:140896 Orphanet:101944 obsolete rare pulmonary disease +MONDO:0005091 severe acute respiratory syndrome MONDO:0015576 Orphanet:140896 Orphanet:163585 obsolete rare viral disease +MONDO:0005100 systemic sclerosis MONDO:0015118 Orphanet:90291 Orphanet:101944 obsolete rare pulmonary disease +MONDO:0005100 systemic sclerosis MONDO:0015939 Orphanet:90291 Orphanet:182228 obsolete systemic autoimmune disease +MONDO:0005103 well-differentiated liposarcoma MONDO:8000031 Orphanet:99971 Orphanet:557494 obsolete subtype of a disorder +MONDO:0005116 Whipple disease MONDO:0015245 Orphanet:3452 Orphanet:117569 obsolete rare intestinal disease +MONDO:0005116 Whipple disease MONDO:0015575 Orphanet:3452 Orphanet:163582 obsolete rare bacterial infectious disease +MONDO:0005116 Whipple disease MONDO:0017652 Orphanet:3452 Orphanet:306753 obsolete rare disease with myoclonus as a major feature +MONDO:0005124 leprosy MONDO:0015575 Orphanet:548 Orphanet:163582 obsolete rare bacterial infectious disease +MONDO:0005124 leprosy MONDO:0016104 Orphanet:548 Orphanet:206613 obsolete infectious disease with peripheral neuropathy +MONDO:0005124 leprosy MONDO:0018396 Orphanet:548 Orphanet:399824 obsolete rare male fertility disorder with obstructive azoospermia +MONDO:0005136 malaria MONDO:0015577 Orphanet:673 Orphanet:163588 obsolete rare parasitic disease +MONDO:0005153 cervical adenocarcinoma MONDO:0016274 Orphanet:213772 Orphanet:213761 obsolete rare cancer of cervix uteri +MONDO:0005197 thymus neoplasm MONDO:0020031 Orphanet:100100 Orphanet:98057 obsolete rare tumor +MONDO:0005198 vulvar intraepithelial neoplasia MONDO:0015876 Orphanet:137583 Orphanet:180312 obsolete rare vulvovaginal tumor +MONDO:0005210 uterine corpus sarcoma MONDO:0016253 Orphanet:213620 Orphanet:213569 obsolete rare cancer of corpus uteri +MONDO:0005212 rhabdomyosarcoma MONDO:0016123 Orphanet:780 Orphanet:206982 obsolete muscular tumor +MONDO:0005215 vulvar carcinoma MONDO:0015876 Orphanet:494418 Orphanet:180312 obsolete rare vulvovaginal tumor +MONDO:0005308 ciliopathy MONDO:0021198 Orphanet:363250 Orphanet:98053 obsolete rare genetic disease +MONDO:0005312 pouchitis MONDO:0015245 Orphanet:217067 Orphanet:117569 obsolete rare intestinal disease +MONDO:0005312 pouchitis MONDO:0032014 Orphanet:217067 Orphanet:377793 obsolete particular clinical situation in a disease or syndrome +MONDO:0005313 necrotizing enterocolitis MONDO:0015187 Orphanet:391673 Orphanet:104012 obsolete rare inflammatory bowel disease +MONDO:0005380 osteonecrosis MONDO:0015940 Orphanet:399158 Orphanet:182231 obsolete rare rheumatologic disease +MONDO:0005380 osteonecrosis MONDO:0019684 Orphanet:399158 Orphanet:93419 obsolete rare bone disease +MONDO:0005388 primary biliary cholangitis MONDO:0015116 Orphanet:186 Orphanet:101941 obsolete rare biliary tract disease +MONDO:0005459 human African trypanosomiasis MONDO:0015577 Orphanet:3385 Orphanet:163588 obsolete rare parasitic disease +MONDO:0005486 tooth agenesis MONDO:0015603 Orphanet:99798 Orphanet:164001 obsolete rare odontal or periodontal disorder +MONDO:0005486 tooth agenesis MONDO:0018488 Orphanet:99798 Orphanet:420755 obsolete rare genetic odontal or periodontal disorder +MONDO:0005486 tooth agenesis MONDO:8000030 Orphanet:99798 Orphanet:377791 obsolete morphological anomaly +MONDO:0005498 botulism MONDO:0015575 Orphanet:1267 Orphanet:163582 obsolete rare bacterial infectious disease +MONDO:0005498 botulism MONDO:0020125 Orphanet:1267 Orphanet:98494 obsolete acquired neuromuscular junction disease +MONDO:0005504 diphtheria MONDO:0015575 Orphanet:1679 Orphanet:163582 obsolete rare bacterial infectious disease +MONDO:0005508 hereditary multiple osteochondromas MONDO:0015959 Orphanet:321 Orphanet:183527 obsolete inherited syndrome with bone tumors as a major feature +MONDO:0005508 hereditary multiple osteochondromas MONDO:0017742 Orphanet:321 Orphanet:309450 obsolete disorder of O-xylosylglycan synthesis +MONDO:0005508 hereditary multiple osteochondromas MONDO:0018292 Orphanet:321 Orphanet:371195 obsolete congenital disorder of glycosylation-related bone disorder +MONDO:0005508 hereditary multiple osteochondromas MONDO:0800089 Orphanet:321 Orphanet:93450 obsolete primary bone dysplasia with disorganized development of skeletal components +MONDO:0005512 malignant peritoneal mesothelioma MONDO:0015683 Orphanet:168811 Orphanet:168807 obsolete primary malignant peritoneal tumor +MONDO:0005514 nanophthalmia MONDO:0020216 Orphanet:35612 Orphanet:98631 obsolete secondary dysgenetic glaucoma +MONDO:0005514 nanophthalmia MONDO:0020253 Orphanet:35612 Orphanet:98683 obsolete syndrome with a symptomatic strabismus +MONDO:0005514 nanophthalmia MONDO:8000032 Orphanet:35612 Orphanet:377789 obsolete malformation syndrome +MONDO:0005526 tetanus MONDO:0015575 Orphanet:3299 Orphanet:163582 obsolete rare bacterial infectious disease +MONDO:0005543 autoimmune hepatitis type 1 MONDO:8000031 Orphanet:563576 Orphanet:557494 obsolete subtype of a disorder +MONDO:0005563 nut midline carcinoma MONDO:0020031 Orphanet:443167 Orphanet:98057 obsolete rare tumor +MONDO:0005570 hematologic disorder MONDO:8000033 Orphanet:97992 Orphanet:557492 obsolete group of disorders +MONDO:0005595 laryngeal squamous cell carcinoma MONDO:0020035 Orphanet:494550 Orphanet:98061 obsolete rare otorhinolaryngologic tumor +MONDO:0005615 plasmacytoma MONDO:0016180 Orphanet:86855 Orphanet:209016 obsolete hematological disease associated with an acquired peripheral neuropathy +MONDO:0005620 cerebral amyloid angiopathy MONDO:0018787 Orphanet:85458 Orphanet:477754 obsolete genetic cerebral small vessel disease +MONDO:0005620 cerebral amyloid angiopathy MONDO:0020144 Orphanet:85458 Orphanet:98549 obsolete cerebrovascular dementia +MONDO:0005629 Acanthamoeba keratitis MONDO:0015577 Orphanet:67043 Orphanet:163588 obsolete rare parasitic disease +MONDO:0005631 actinomycosis MONDO:0015575 Orphanet:457095 Orphanet:163582 obsolete rare bacterial infectious disease +MONDO:0005645 ancylostomiasis MONDO:0015577 Orphanet:78 Orphanet:163588 obsolete rare parasitic disease +MONDO:0005657 aspergillosis MONDO:0015578 Orphanet:1163 Orphanet:163591 obsolete rare mycosis +MONDO:0005661 babesiosis MONDO:0015577 Orphanet:108 Orphanet:163588 obsolete rare parasitic disease +MONDO:0005662 balantidiasis MONDO:0015577 Orphanet:1223 Orphanet:163588 obsolete rare parasitic disease +MONDO:0005668 bird fancier's lung MONDO:0020537 Orphanet:99908 Orphanet:99909 obsolete occupational allergic alveolitis +MONDO:0005680 Brill-Zinsser disease MONDO:8000031 Orphanet:99990 Orphanet:557494 obsolete subtype of a disorder +MONDO:0005683 brucellosis MONDO:0015575 Orphanet:1304 Orphanet:163582 obsolete rare bacterial infectious disease +MONDO:0005692 cat-scratch disease MONDO:0015575 Orphanet:50839 Orphanet:163582 obsolete rare bacterial infectious disease +MONDO:0005706 coccidioidomycosis MONDO:0015577 Orphanet:228123 Orphanet:163588 obsolete rare parasitic disease +MONDO:0005708 Colorado tick fever MONDO:0015659 Orphanet:83595 Orphanet:166490 obsolete infectious disease with epilepsy +MONDO:0005711 congenital diaphragmatic hernia MONDO:0015118 Orphanet:2140 Orphanet:101944 obsolete rare pulmonary disease +MONDO:0005711 congenital diaphragmatic hernia MONDO:0015215 Orphanet:2140 Orphanet:108977 obsolete non-syndromic diaphragmatic or abdominal wall malformation +MONDO:0005711 congenital diaphragmatic hernia MONDO:0015879 Orphanet:2140 Orphanet:180776 obsolete non-syndromic diaphragmatic or thoracic malformation +MONDO:0005711 congenital diaphragmatic hernia MONDO:8000030 Orphanet:2140 Orphanet:377791 obsolete morphological anomaly +MONDO:0005715 congenital toxoplasmosis MONDO:0015577 Orphanet:858 Orphanet:163588 obsolete rare parasitic disease +MONDO:0005715 congenital toxoplasmosis MONDO:0015659 Orphanet:858 Orphanet:166490 obsolete infectious disease with epilepsy +MONDO:0005724 cryptococcosis MONDO:0015577 Orphanet:1546 Orphanet:163588 obsolete rare parasitic disease +MONDO:0005725 cyclosporiasis MONDO:0015577 Orphanet:210 Orphanet:163588 obsolete rare parasitic disease +MONDO:0005736 eastern equine encephalitis MONDO:0015659 Orphanet:83594 Orphanet:166490 obsolete infectious disease with epilepsy +MONDO:0005769 geniculate herpes zoster MONDO:0015576 Orphanet:3020 Orphanet:163585 obsolete rare viral disease +MONDO:0005769 geniculate herpes zoster MONDO:0016104 Orphanet:3020 Orphanet:206613 obsolete infectious disease with peripheral neuropathy +MONDO:0005773 Gerstmann syndrome MONDO:0020009 Orphanet:221117 Orphanet:98006 obsolete rare neurologic disease +MONDO:0005789 hepatitis D virus infection MONDO:0015576 Orphanet:402823 Orphanet:163585 obsolete rare viral disease +MONDO:0005789 hepatitis D virus infection MONDO:0018928 Orphanet:402823 Orphanet:57146 obsolete rare hepatic disease +MONDO:0005797 HIV wasting syndrome MONDO:0032014 Orphanet:90081 Orphanet:377793 obsolete particular clinical situation in a disease or syndrome +MONDO:0005802 hymenolepiasis MONDO:0015577 Orphanet:401 Orphanet:163588 obsolete rare parasitic disease +MONDO:0005803 hyperinsulinemic hypoglycemia MONDO:0020005 Orphanet:443095 Orphanet:97978 obsolete rare endocrine disease +MONDO:0005815 pancreatic neuroendocrine neoplasm MONDO:0018520 Orphanet:506052 Orphanet:424033 obsolete rare epithelial tumor of pancreas +MONDO:0005817 Kluver-Bucy syndrome MONDO:0015659 Orphanet:157823 Orphanet:166490 obsolete infectious disease with epilepsy +MONDO:0005817 Kluver-Bucy syndrome MONDO:0032013 Orphanet:157823 Orphanet:377792 obsolete clinical syndrome +MONDO:0005823 legionellosis MONDO:0015575 Orphanet:600832 Orphanet:163582 obsolete rare bacterial infectious disease +MONDO:0005825 leptospirosis MONDO:0015575 Orphanet:509 Orphanet:163582 obsolete rare bacterial infectious disease +MONDO:0005828 listeriosis MONDO:0015575 Orphanet:533 Orphanet:163582 obsolete rare bacterial infectious disease +MONDO:0005846 microsporidiosis MONDO:0015577 Orphanet:2552 Orphanet:163588 obsolete rare parasitic disease +MONDO:0005851 Miller Fisher syndrome MONDO:0016494 Orphanet:98919 Orphanet:231416 obsolete regional variant of Guillain-Barre syndrome +MONDO:0005854 mixed connective tissue disease MONDO:0015928 Orphanet:809 Orphanet:182104 obsolete secondary interstitial lung disease in childhood and adulthood associated with a connective tissue disease +MONDO:0005854 mixed connective tissue disease MONDO:0016177 Orphanet:809 Orphanet:209007 obsolete systemic inflammatory disease associated with an acquired peripheral neuropathy +MONDO:0005894 paracoccidioidomycosis MONDO:0015578 Orphanet:73260 Orphanet:163591 obsolete rare mycosis +MONDO:0005919 placental insufficiency MONDO:0015582 Orphanet:439167 Orphanet:163637 obsolete rare disorder related with pregnancy, childbirth and puerperium +MONDO:0005919 placental insufficiency MONDO:0032013 Orphanet:439167 Orphanet:377792 obsolete clinical syndrome +MONDO:0005933 pulmonary blastoma MONDO:0015119 Orphanet:64741 Orphanet:101945 obsolete bronchopulmonary tumor +MONDO:0005968 sporotrichosis MONDO:0015578 Orphanet:826 Orphanet:163591 obsolete rare mycosis +MONDO:0005969 st. Louis encephalitis MONDO:0015659 Orphanet:83484 Orphanet:166490 obsolete infectious disease with epilepsy +MONDO:0005974 strongyloidiasis MONDO:0015577 Orphanet:76 Orphanet:163588 obsolete rare parasitic disease +MONDO:0005979 thoracic outlet syndrome MONDO:0020002 Orphanet:97330 Orphanet:97962 obsolete rare surgical thoracic disease +MONDO:0005988 toxocariasis MONDO:0015577 Orphanet:3343 Orphanet:163588 obsolete rare parasitic disease +MONDO:0005991 trench fever MONDO:0015575 Orphanet:64694 Orphanet:163582 obsolete rare bacterial infectious disease +MONDO:0006009 viral encephalitis MONDO:0015576 Orphanet:98252 Orphanet:163585 obsolete rare viral disease +MONDO:0006015 Waterhouse-Friderichsen syndrome MONDO:8000031 Orphanet:100067 Orphanet:557494 obsolete subtype of a disorder +MONDO:0006037 hydrolethalus syndrome MONDO:0015335 Orphanet:2189 Orphanet:139039 obsolete Mendelian syndromes with cleft lip/palate +MONDO:0006037 hydrolethalus syndrome MONDO:0017120 Orphanet:2189 Orphanet:269531 obsolete other syndrome with a central nervous system malformation as major feature +MONDO:0006037 hydrolethalus syndrome MONDO:8000032 Orphanet:2189 Orphanet:377789 obsolete malformation syndrome +MONDO:0006043 metaplastic breast carcinoma MONDO:0015870 Orphanet:213531 Orphanet:180257 obsolete rare malignant breast tumor +MONDO:0006079 ameloblastic carcinoma MONDO:0017797 Orphanet:314422 Orphanet:314425 obsolete rare odontologic tumor +MONDO:0006131 cerebellar liponeurocytoma MONDO:0016726 Orphanet:251931 Orphanet:251924 obsolete neuronal tumor +MONDO:0006132 cervical adenoid basal carcinoma MONDO:0016274 Orphanet:213828 Orphanet:213761 obsolete rare cancer of cervix uteri +MONDO:0006133 cervical adenoid cystic carcinoma MONDO:0016274 Orphanet:213823 Orphanet:213761 obsolete rare cancer of cervix uteri +MONDO:0006143 cervical squamous cell carcinoma MONDO:0016274 Orphanet:213767 Orphanet:213761 obsolete rare cancer of cervix uteri +MONDO:0006183 disseminated peritoneal leiomyomatosis MONDO:0015682 Orphanet:71274 Orphanet:168803 obsolete primary peritoneal tumor +MONDO:0006230 gastric squamous cell carcinoma MONDO:0018501 Orphanet:418959 Orphanet:423771 obsolete rare carcinoma of stomach +MONDO:0006248 hydatidiform mole MONDO:0016784 Orphanet:99927 Orphanet:254685 obsolete gestational trophoblastic disease +MONDO:0006277 lung lymphangioleiomyomatosis MONDO:0015510 Orphanet:538 Orphanet:156610 obsolete rare genetic respiratory disease +MONDO:0006277 lung lymphangioleiomyomatosis MONDO:0017027 Orphanet:538 Orphanet:264740 obsolete primary interstitial lung disease specific to adulthood +MONDO:0006292 malignant mesothelioma MONDO:0015119 Orphanet:50251 Orphanet:101945 obsolete bronchopulmonary tumor +MONDO:0006339 ovarian microcystic stromal tumor MONDO:0019965 Orphanet:569248 Orphanet:97293 obsolete rare benign ovarian tumor +MONDO:0006346 pancreatic acinar cell carcinoma MONDO:0016314 Orphanet:424046 Orphanet:217074 obsolete rare carcinoma of pancreas +MONDO:0006359 neoplasm with perivascular epithelioid cell differentiation MONDO:0019099 Orphanet:595133 Orphanet:71209 obsolete rare soft tissue tumor +MONDO:0006363 peritoneal multicystic mesothelioma MONDO:0015683 Orphanet:168816 Orphanet:168807 obsolete primary malignant peritoneal tumor +MONDO:0006369 pineal parenchymal tumor of intermediate differentiation MONDO:0016721 Orphanet:251919 Orphanet:251905 obsolete pineal tumor of neuroepithelial tissue +MONDO:0006373 pituitary gland adenoma MONDO:0019833 Orphanet:99408 Orphanet:95503 obsolete pituitary hormone deficiency from tumoral origin +MONDO:0006383 primary cutaneous diffuse large B-cell lymphoma, Leg type MONDO:0015818 Orphanet:178544 Orphanet:178554 obsolete aggressive primary cutaneous B-cell lymphoma +MONDO:0006479 undifferentiated pancreatic carcinoma with osteoclast-like giant cells MONDO:0016314 Orphanet:424080 Orphanet:217074 obsolete rare carcinoma of pancreas +MONDO:0006486 uveal melanoma MONDO:0015121 Orphanet:39044 Orphanet:101950 obsolete rare eye tumor +MONDO:0006543 epidermolysis bullosa dystrophica MONDO:0015331 Orphanet:303 Orphanet:139027 obsolete malformation syndrome with skin/mucosae involvement +MONDO:0006606 scleredema adultorum MONDO:0019546 Orphanet:352763 Orphanet:90077 obsolete other acquired skin disease +MONDO:0006614 subcorneal pustular dermatosis MONDO:0019546 Orphanet:48377 Orphanet:90077 obsolete other acquired skin disease +MONDO:0006639 adrenal cortex carcinoma MONDO:0017820 Orphanet:1501 Orphanet:314749 obsolete obsolete disease with Cushing syndrome as a major feature +MONDO:0006663 perinatal asphyxia MONDO:0019110 Orphanet:137577 Orphanet:71281 obsolete rare central nervous system or retinal vascular disease +MONDO:0006663 perinatal asphyxia MONDO:0032014 Orphanet:137577 Orphanet:377793 obsolete particular clinical situation in a disease or syndrome +MONDO:0006664 atrial septal defect MONDO:0017131 Orphanet:1478 Orphanet:271853 obsolete hereditary cardiac anomaly +MONDO:0006664 atrial septal defect MONDO:0020294 Orphanet:1478 Orphanet:98727 obsolete atrial defect and interatrial communication +MONDO:0006664 atrial septal defect MONDO:8000030 Orphanet:1478 Orphanet:377791 obsolete morphological anomaly +MONDO:0006687 burning mouth syndrome MONDO:0020011 Orphanet:353253 Orphanet:98022 obsolete rare headache disorder +MONDO:0006702 chronic inflammatory demyelinating polyradiculoneuropathy MONDO:0015916 Orphanet:2932 Orphanet:182064 obsolete rare neuroinflammatory or neuroimmunological disease +MONDO:0006702 chronic inflammatory demyelinating polyradiculoneuropathy MONDO:0016170 Orphanet:2932 Orphanet:208978 obsolete chronic polyradiculoneuropathy +MONDO:0006745 endometrioid stromal sarcoma MONDO:0016253 Orphanet:213711 Orphanet:213569 obsolete rare cancer of corpus uteri +MONDO:0006825 kuru MONDO:0017641 Orphanet:454745 Orphanet:306695 obsolete miscellaneous movement disorder due to neurodegenerative disease +MONDO:0006851 meconium aspiration syndrome MONDO:0015118 Orphanet:70588 Orphanet:101944 obsolete rare pulmonary disease +MONDO:0006913 pneumococcal meningitis MONDO:0015575 Orphanet:55655 Orphanet:163582 obsolete rare bacterial infectious disease +MONDO:0006913 pneumococcal meningitis MONDO:0015659 Orphanet:55655 Orphanet:166490 obsolete infectious disease with epilepsy +MONDO:0006941 rat-bite fever MONDO:0015575 Orphanet:31205 Orphanet:163582 obsolete rare bacterial infectious disease +MONDO:0006956 Rickettsiosis MONDO:0015575 Orphanet:102021 Orphanet:163582 obsolete rare bacterial infectious disease +MONDO:0007029 branchio-oto-renal syndrome MONDO:0015334 Orphanet:107 Orphanet:139036 obsolete branchial arch or oral-acral syndrome +MONDO:0007029 branchio-oto-renal syndrome MONDO:0015495 Orphanet:107 Orphanet:156202 obsolete otomandibular dysplasia associated with monogenic syndromes +MONDO:0007029 branchio-oto-renal syndrome MONDO:0015501 Orphanet:107 Orphanet:156237 obsolete syndrome or malformation associated with head and neck malformations +MONDO:0007029 branchio-oto-renal syndrome MONDO:0019589 Orphanet:107 Orphanet:90642 obsolete syndromic genetic hearing loss +MONDO:0007029 branchio-oto-renal syndrome MONDO:0019721 Orphanet:107 Orphanet:93547 obsolete syndromic renal or urinary tract malformation +MONDO:0007029 branchio-oto-renal syndrome MONDO:0026189 Orphanet:107 Orphanet:183576 obsolete genetic branchial arch or oral-acral syndrome +MONDO:0007029 branchio-oto-renal syndrome MONDO:0043008 Orphanet:107 Orphanet:330206 obsolete genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability +MONDO:0007029 branchio-oto-renal syndrome MONDO:8000032 Orphanet:107 Orphanet:377789 obsolete malformation syndrome +MONDO:0007031 familial abdominal aortic aneurysm MONDO:0016517 Orphanet:86 Orphanet:233655 obsolete rare genetic vascular disease +MONDO:0007032 prune belly syndrome MONDO:8000032 Orphanet:2970 Orphanet:377789 obsolete malformation syndrome +MONDO:0007034 Adams-Oliver syndrome MONDO:0017432 Orphanet:974 Orphanet:294955 obsolete syndrome with limb reduction defects +MONDO:0007034 Adams-Oliver syndrome MONDO:0020018 Orphanet:974 Orphanet:98038 obsolete cranial malformation +MONDO:0007034 Adams-Oliver syndrome MONDO:0020225 Orphanet:974 Orphanet:98641 obsolete syndromic cataract +MONDO:0007034 Adams-Oliver syndrome MONDO:0026182 Orphanet:974 Orphanet:183542 obsolete genetic cranial malformation +MONDO:0007034 Adams-Oliver syndrome MONDO:0035863 Orphanet:974 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0007034 Adams-Oliver syndrome MONDO:0800094 Orphanet:974 Orphanet:498454 obsolete dysostosis with brachydactyly with extraskeletal manifestations +MONDO:0007034 Adams-Oliver syndrome MONDO:0957001 Orphanet:974 Orphanet:183481 obsolete hereditary mixed dermis disorder +MONDO:0007034 Adams-Oliver syndrome MONDO:8000032 Orphanet:974 Orphanet:377789 obsolete malformation syndrome +MONDO:0007037 Achondroplasia MONDO:0018232 Orphanet:15 Orphanet:364536 obsolete primary bone dysplasia with micromelia +MONDO:0007039 neurofibromatosis type 2 MONDO:0019589 Orphanet:637 Orphanet:90642 obsolete syndromic genetic hearing loss +MONDO:0007039 neurofibromatosis type 2 MONDO:0020225 Orphanet:637 Orphanet:98641 obsolete syndromic cataract +MONDO:0007041 Apert syndrome MONDO:0020234 Orphanet:87 Orphanet:98650 obsolete craniofacial anomaly with cataract +MONDO:0007041 Apert syndrome MONDO:0020254 Orphanet:87 Orphanet:98684 obsolete craniostenosis associated with a strabismus +MONDO:0007041 Apert syndrome MONDO:0024149 Orphanet:87 Orphanet:138055 obsolete Pierre Robin syndrome associated with bone disease +MONDO:0007041 Apert syndrome MONDO:0035863 Orphanet:87 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0007041 Apert syndrome MONDO:8000032 Orphanet:87 Orphanet:377789 obsolete malformation syndrome +MONDO:0007042 Saethre-Chotzen syndrome MONDO:0015945 Orphanet:794 Orphanet:183422 obsolete polymalformative genetic syndrome with increased risk of developing cancer +MONDO:0007042 Saethre-Chotzen syndrome MONDO:0020169 Orphanet:794 Orphanet:98578 obsolete rare disorder with ptosis +MONDO:0007042 Saethre-Chotzen syndrome MONDO:0020254 Orphanet:794 Orphanet:98684 obsolete craniostenosis associated with a strabismus +MONDO:0007042 Saethre-Chotzen syndrome MONDO:0035862 Orphanet:794 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome +MONDO:0007042 Saethre-Chotzen syndrome MONDO:8000032 Orphanet:794 Orphanet:377789 obsolete malformation syndrome +MONDO:0007043 Pfeiffer syndrome MONDO:0020254 Orphanet:710 Orphanet:98684 obsolete craniostenosis associated with a strabismus +MONDO:0007043 Pfeiffer syndrome MONDO:8000032 Orphanet:710 Orphanet:377789 obsolete malformation syndrome +MONDO:0007045 acrofacial dysostosis, Catania type MONDO:0015334 Orphanet:1786 Orphanet:139036 obsolete branchial arch or oral-acral syndrome +MONDO:0007045 acrofacial dysostosis, Catania type MONDO:0026189 Orphanet:1786 Orphanet:183576 obsolete genetic branchial arch or oral-acral syndrome +MONDO:0007045 acrofacial dysostosis, Catania type MONDO:0035863 Orphanet:1786 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0007045 acrofacial dysostosis, Catania type MONDO:8000032 Orphanet:1786 Orphanet:377789 obsolete malformation syndrome +MONDO:0007047 punctate palmoplantar keratoderma type III MONDO:0016436 Orphanet:38 Orphanet:228224 obsolete acquired dermis elastic tissue disorder with increased elastic tissue +MONDO:0007047 punctate palmoplantar keratoderma type III MONDO:0017676 Orphanet:38 Orphanet:307995 obsolete marginal papular palmoplantar keratoderma +MONDO:0007047 punctate palmoplantar keratoderma type III MONDO:0019271 Orphanet:38 Orphanet:79356 obsolete acrokeratoderma +MONDO:0007047 punctate palmoplantar keratoderma type III MONDO:0026151 Orphanet:38 Orphanet:183441 obsolete genetic acrokeratoderma +MONDO:0007048 acrokeratosis verruciformis MONDO:0019271 Orphanet:79151 Orphanet:79356 obsolete acrokeratoderma +MONDO:0007048 acrokeratosis verruciformis MONDO:0026151 Orphanet:79151 Orphanet:183441 obsolete genetic acrokeratoderma +MONDO:0007055 Acromicric dysplasia MONDO:8000032 Orphanet:969 Orphanet:377789 obsolete malformation syndrome +MONDO:0007057 Acroosteolysis dominant type MONDO:0015940 Orphanet:955 Orphanet:182231 obsolete rare rheumatologic disease +MONDO:0007057 Acroosteolysis dominant type MONDO:0019721 Orphanet:955 Orphanet:93547 obsolete syndromic renal or urinary tract malformation +MONDO:0007057 Acroosteolysis dominant type MONDO:8000032 Orphanet:955 Orphanet:377789 obsolete malformation syndrome +MONDO:0007058 Acropectorovertebral dysplasia MONDO:0017434 Orphanet:957 Orphanet:294959 obsolete syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy +MONDO:0007058 Acropectorovertebral dysplasia MONDO:8000032 Orphanet:957 Orphanet:377789 obsolete malformation syndrome +MONDO:0007059 acrorenal syndrome MONDO:0019721 Orphanet:971 Orphanet:93547 obsolete syndromic renal or urinary tract malformation +MONDO:0007059 acrorenal syndrome MONDO:0043008 Orphanet:971 Orphanet:330206 obsolete genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability +MONDO:0007059 acrorenal syndrome MONDO:8000032 Orphanet:971 Orphanet:377789 obsolete malformation syndrome +MONDO:0007062 adactylia, unilateral MONDO:0034668 Orphanet:973 Orphanet:498461 obsolete terminal transverse limb defect +MONDO:0007062 adactylia, unilateral MONDO:8000030 Orphanet:973 Orphanet:377791 obsolete morphological anomaly +MONDO:0007068 adenylosuccinate lyase deficiency MONDO:0015878 Orphanet:46 Orphanet:180772 obsolete rare disease with autism +MONDO:0007068 adenylosuccinate lyase deficiency MONDO:0016406 Orphanet:46 Orphanet:225713 obsolete other metabolic disease with epilepsy +MONDO:0007068 adenylosuccinate lyase deficiency MONDO:0035862 Orphanet:46 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome +MONDO:0007072 ADULT syndrome MONDO:0015336 Orphanet:978 Orphanet:139042 obsolete malformation syndrome with odontal and/or periodontal component +MONDO:0007072 ADULT syndrome MONDO:0017432 Orphanet:978 Orphanet:294955 obsolete syndrome with limb reduction defects +MONDO:0007072 ADULT syndrome MONDO:0020197 Orphanet:978 Orphanet:98609 obsolete EEC syndrome and related syndrome +MONDO:0007072 ADULT syndrome MONDO:0026190 Orphanet:978 Orphanet:183580 obsolete genetic malformation syndrome with odontal and/or periodontal component +MONDO:0007072 ADULT syndrome MONDO:0800090 Orphanet:978 Orphanet:498477 obsolete ectrodactyly with and without other manifestations +MONDO:0007072 ADULT syndrome MONDO:8000032 Orphanet:978 Orphanet:377789 obsolete malformation syndrome +MONDO:0007073 Hypoglossia-hypodactyly syndrome MONDO:0015334 Orphanet:989 Orphanet:139036 obsolete branchial arch or oral-acral syndrome +MONDO:0007073 Hypoglossia-hypodactyly syndrome MONDO:0017432 Orphanet:989 Orphanet:294955 obsolete syndrome with limb reduction defects +MONDO:0007073 Hypoglossia-hypodactyly syndrome MONDO:0026189 Orphanet:989 Orphanet:183576 obsolete genetic branchial arch or oral-acral syndrome +MONDO:0007073 Hypoglossia-hypodactyly syndrome MONDO:0035863 Orphanet:989 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0007073 Hypoglossia-hypodactyly syndrome MONDO:8000032 Orphanet:989 Orphanet:377789 obsolete malformation syndrome +MONDO:0007077 Tietz syndrome MONDO:0019589 Orphanet:42665 Orphanet:90642 obsolete syndromic genetic hearing loss +MONDO:0007077 Tietz syndrome MONDO:8000032 Orphanet:42665 Orphanet:377789 obsolete malformation syndrome +MONDO:0007078 pseudohypoparathyroidism type 1A MONDO:0018699 Orphanet:79443 Orphanet:457059 obsolete pseudohypoparathyroidism with Albright hereditary osteodystrophy +MONDO:0007078 pseudohypoparathyroidism type 1A MONDO:0035862 Orphanet:79443 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome +MONDO:0007083 autosomal dominant palmoplantar keratoderma and congenital alopecia MONDO:0020094 Orphanet:1010 Orphanet:98352 obsolete autosomal dominant disease with diffuse palmoplantar keratoderma as a major feature +MONDO:0007085 alopecia-epilepsy-pyorrhea-intellectual disability syndrome MONDO:0021034 Orphanet:1008 Orphanet:481771 obsolete hereditary alopecia +MONDO:0007085 alopecia-epilepsy-pyorrhea-intellectual disability syndrome MONDO:0035862 Orphanet:1008 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome +MONDO:0007086 autosomal dominant Alport syndrome MONDO:8000031 Orphanet:88918 Orphanet:557494 obsolete subtype of a disorder +MONDO:0007093 hypomaturation-hypoplastic amelogenesis imperfecta with taurodontism MONDO:8000031 Orphanet:100034 Orphanet:557494 obsolete subtype of a disorder +MONDO:0007095 ameloonychohypohidrotic syndrome MONDO:8000032 Orphanet:1028 Orphanet:377789 obsolete malformation syndrome +MONDO:0007097 Finnish type amyloidosis MONDO:0016134 Orphanet:85448 Orphanet:207021 obsolete rare hereditary systemic disease with peripheral neuropathy +MONDO:0007097 Finnish type amyloidosis MONDO:0020215 Orphanet:85448 Orphanet:98628 obsolete syndromic corneal dystrophy +MONDO:0007098 ACys amyloidosis MONDO:8000031 Orphanet:100008 Orphanet:557494 obsolete subtype of a disorder +MONDO:0007100 familial amyloid neuropathy MONDO:0016134 Orphanet:85447 Orphanet:207021 obsolete rare hereditary systemic disease with peripheral neuropathy +MONDO:0007100 familial amyloid neuropathy MONDO:0017132 Orphanet:85447 Orphanet:271861 obsolete hereditary ATTR amyloidosis +MONDO:0007101 familial primary localized cutaneous amyloidosis MONDO:0018798 Orphanet:353220 Orphanet:477808 obsolete other genetic dermis disorder +MONDO:0007104 amyotrophic lateral sclerosis-parkinsonism-dementia complex MONDO:0020136 Orphanet:90020 Orphanet:98534 obsolete neurodegenerative disease with dementia +MONDO:0007112 interventricular septum aneurysm MONDO:0018771 Orphanet:99092 Orphanet:474347 obsolete congenital anomaly of ventricular septum +MONDO:0007112 interventricular septum aneurysm MONDO:8000030 Orphanet:99092 Orphanet:377791 obsolete morphological anomaly +MONDO:0007113 Angelman syndrome MONDO:0015652 Orphanet:72 Orphanet:166469 obsolete chromosomal anomaly with epilepsy as a major feature +MONDO:0007113 Angelman syndrome MONDO:0020016 Orphanet:72 Orphanet:98033 obsolete rare neurologic disease with psychiatric involvement +MONDO:0007113 Angelman syndrome MONDO:0035863 Orphanet:72 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0007113 Angelman syndrome MONDO:8000032 Orphanet:72 Orphanet:377789 obsolete malformation syndrome +MONDO:0007114 Angel-shaped phalango-epiphyseal dysplasia MONDO:8000032 Orphanet:63442 Orphanet:377789 obsolete malformation syndrome +MONDO:0007116 hereditary neurocutaneous angioma MONDO:0015145 Orphanet:1062 Orphanet:102006 obsolete neurovascular malformation +MONDO:0007116 hereditary neurocutaneous angioma MONDO:0015658 Orphanet:1062 Orphanet:166487 obsolete cerebral diseases of vascular origin with epilepsy +MONDO:0007116 hereditary neurocutaneous angioma MONDO:0016228 Orphanet:1062 Orphanet:211237 obsolete rare vascular tumor +MONDO:0007116 hereditary neurocutaneous angioma MONDO:0018729 Orphanet:1062 Orphanet:459543 obsolete genetic vascular tumor +MONDO:0007116 hereditary neurocutaneous angioma MONDO:0020063 Orphanet:1062 Orphanet:98196 obsolete malformation syndrome with hamartosis +MONDO:0007116 hereditary neurocutaneous angioma MONDO:0031949 Orphanet:1062 Orphanet:371436 obsolete genetic neurovascular malformation +MONDO:0007118 isolated anhidrosis with normal sweat glands MONDO:0015949 Orphanet:468666 Orphanet:183484 obsolete rare genetic subcutaneous tissue disorder +MONDO:0007118 isolated anhidrosis with normal sweat glands MONDO:0018798 Orphanet:468666 Orphanet:477808 obsolete other genetic dermis disorder +MONDO:0007119 isolated aniridia MONDO:0020225 Orphanet:250923 Orphanet:98641 obsolete syndromic cataract +MONDO:0007119 isolated aniridia MONDO:8000030 Orphanet:250923 Orphanet:377791 obsolete morphological anomaly +MONDO:0007120 aniridia-absent patella syndrome MONDO:0020148 Orphanet:1069 Orphanet:98557 obsolete syndromic aniridia +MONDO:0007120 aniridia-absent patella syndrome MONDO:0020222 Orphanet:1069 Orphanet:98638 obsolete rare disease with glaucoma as a major feature +MONDO:0007120 aniridia-absent patella syndrome MONDO:8000032 Orphanet:1069 Orphanet:377789 obsolete malformation syndrome +MONDO:0007123 ankyloblepharon filiforme adnatum-cleft palate syndrome MONDO:8000031 Orphanet:1072 Orphanet:557494 obsolete subtype of a disorder +MONDO:0007124 ankyloblepharon-ectodermal defects-cleft lip/palate syndrome MONDO:0015501 Orphanet:1071 Orphanet:156237 obsolete syndrome or malformation associated with head and neck malformations +MONDO:0007124 ankyloblepharon-ectodermal defects-cleft lip/palate syndrome MONDO:0017432 Orphanet:1071 Orphanet:294955 obsolete syndrome with limb reduction defects +MONDO:0007124 ankyloblepharon-ectodermal defects-cleft lip/palate syndrome MONDO:0020156 Orphanet:1071 Orphanet:98565 obsolete syndromic ankyloblepharon +MONDO:0007124 ankyloblepharon-ectodermal defects-cleft lip/palate syndrome MONDO:8000032 Orphanet:1071 Orphanet:377789 obsolete malformation syndrome +MONDO:0007127 diffuse idiopathic skeletal hyperostosis MONDO:0019711 Orphanet:2206 Orphanet:93454 obsolete dysostosis with predominant vertebral and costal involvement +MONDO:0007127 diffuse idiopathic skeletal hyperostosis MONDO:8000032 Orphanet:2206 Orphanet:377789 obsolete malformation syndrome +MONDO:0007130 congenital total pulmonary venous return anomaly MONDO:8000030 Orphanet:99125 Orphanet:377791 obsolete morphological anomaly +MONDO:0007131 anonychia with flexural pigmentation MONDO:0019285 Orphanet:69125 Orphanet:79370 obsolete syndromic nail anomaly +MONDO:0007131 anonychia with flexural pigmentation MONDO:8000032 Orphanet:69125 Orphanet:377789 obsolete malformation syndrome +MONDO:0007134 Cooks syndrome MONDO:0019285 Orphanet:1487 Orphanet:79370 obsolete syndromic nail anomaly +MONDO:0007134 Cooks syndrome MONDO:0800093 Orphanet:1487 Orphanet:498451 obsolete dysostosis with brachydactyly without extraskeletal manifestations +MONDO:0007134 Cooks syndrome MONDO:8000032 Orphanet:1487 Orphanet:377789 obsolete malformation syndrome +MONDO:0007137 isolated congenital anosmia MONDO:0020017 Orphanet:88620 Orphanet:98036 obsolete rare otorhinolaryngologic disease +MONDO:0007142 Townes-Brocks syndrome MONDO:0015246 Orphanet:857 Orphanet:117573 obsolete syndromic anorectal malformation +MONDO:0007142 Townes-Brocks syndrome MONDO:0015334 Orphanet:857 Orphanet:139036 obsolete branchial arch or oral-acral syndrome +MONDO:0007142 Townes-Brocks syndrome MONDO:0015495 Orphanet:857 Orphanet:156202 obsolete otomandibular dysplasia associated with monogenic syndromes +MONDO:0007142 Townes-Brocks syndrome MONDO:0017434 Orphanet:857 Orphanet:294959 obsolete syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy +MONDO:0007142 Townes-Brocks syndrome MONDO:0019589 Orphanet:857 Orphanet:90642 obsolete syndromic genetic hearing loss +MONDO:0007142 Townes-Brocks syndrome MONDO:0019721 Orphanet:857 Orphanet:93547 obsolete syndromic renal or urinary tract malformation +MONDO:0007142 Townes-Brocks syndrome MONDO:0026189 Orphanet:857 Orphanet:183576 obsolete genetic branchial arch or oral-acral syndrome +MONDO:0007142 Townes-Brocks syndrome MONDO:0035863 Orphanet:857 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0007142 Townes-Brocks syndrome MONDO:0043008 Orphanet:857 Orphanet:330206 obsolete genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability +MONDO:0007142 Townes-Brocks syndrome MONDO:8000032 Orphanet:857 Orphanet:377789 obsolete malformation syndrome +MONDO:0007143 aortic arch anomaly-facial dysmorphism-intellectual disability syndrome MONDO:0035863 Orphanet:1110 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0007143 aortic arch anomaly-facial dysmorphism-intellectual disability syndrome MONDO:8000032 Orphanet:1110 Orphanet:377789 obsolete malformation syndrome +MONDO:0007145 aplasia cutis congenita MONDO:0020018 Orphanet:1114 Orphanet:98038 obsolete cranial malformation +MONDO:0007145 aplasia cutis congenita MONDO:0026182 Orphanet:1114 Orphanet:183542 obsolete genetic cranial malformation +MONDO:0007145 aplasia cutis congenita MONDO:0957001 Orphanet:1114 Orphanet:183481 obsolete hereditary mixed dermis disorder +MONDO:0007145 aplasia cutis congenita MONDO:8000032 Orphanet:1114 Orphanet:377789 obsolete malformation syndrome +MONDO:0007154 arteriovenous malformations of the brain MONDO:0015145 Orphanet:46724 Orphanet:102006 obsolete neurovascular malformation +MONDO:0007154 arteriovenous malformations of the brain MONDO:0016229 Orphanet:46724 Orphanet:211240 obsolete hereditary vascular anomaly +MONDO:0007154 arteriovenous malformations of the brain MONDO:0016234 Orphanet:46724 Orphanet:211266 obsolete rare arteriovenous malformation +MONDO:0007154 arteriovenous malformations of the brain MONDO:0031949 Orphanet:46724 Orphanet:371436 obsolete genetic neurovascular malformation +MONDO:0007154 arteriovenous malformations of the brain MONDO:8000030 Orphanet:46724 Orphanet:377791 obsolete morphological anomaly +MONDO:0007158 arthrogryposis- oculomotor limitation-electroretinal anomalies syndrome MONDO:8000032 Orphanet:1154 Orphanet:377789 obsolete malformation syndrome +MONDO:0007159 arthrogryposis-like hand anomaly-sensorineural deafness syndrome MONDO:0019589 Orphanet:1144 Orphanet:90642 obsolete syndromic genetic hearing loss +MONDO:0007159 arthrogryposis-like hand anomaly-sensorineural deafness syndrome MONDO:8000032 Orphanet:1144 Orphanet:377789 obsolete malformation syndrome +MONDO:0007160 Stickler syndrome type 1 MONDO:0020232 Orphanet:90653 Orphanet:98648 obsolete musculoskeletal disease with cataract +MONDO:0007160 Stickler syndrome type 1 MONDO:8000031 Orphanet:90653 Orphanet:557494 obsolete subtype of a disorder +MONDO:0007167 atelosteogenesis type I MONDO:0024149 Orphanet:1190 Orphanet:138055 obsolete Pierre Robin syndrome associated with bone disease +MONDO:0007167 atelosteogenesis type I MONDO:0800086 Orphanet:1190 Orphanet:93441 obsolete primary bone dysplasia with multiple joint dislocations +MONDO:0007167 atelosteogenesis type I MONDO:8000032 Orphanet:1190 Orphanet:377789 obsolete malformation syndrome +MONDO:0007168 atelosteogenesis type III MONDO:0024149 Orphanet:56305 Orphanet:138055 obsolete Pierre Robin syndrome associated with bone disease +MONDO:0007168 atelosteogenesis type III MONDO:0035863 Orphanet:56305 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0007168 atelosteogenesis type III MONDO:0800086 Orphanet:56305 Orphanet:93441 obsolete primary bone dysplasia with multiple joint dislocations +MONDO:0007168 atelosteogenesis type III MONDO:8000032 Orphanet:56305 Orphanet:377789 obsolete malformation syndrome +MONDO:0007173 atrial septal defect 7 MONDO:0015110 Orphanet:1479 Orphanet:101934 obsolete genetic cardiac rhythm disease +MONDO:0007173 atrial septal defect 7 MONDO:0015506 Orphanet:1479 Orphanet:156532 obsolete rare syndrome with cardiac malformations +MONDO:0007173 atrial septal defect 7 MONDO:8000032 Orphanet:1479 Orphanet:377789 obsolete malformation syndrome +MONDO:0007174 Lown-Ganong-Levine syndrome MONDO:0015110 Orphanet:844 Orphanet:101934 obsolete genetic cardiac rhythm disease +MONDO:0007177 auriculoosteodysplasia MONDO:0800086 Orphanet:114 Orphanet:93441 obsolete primary bone dysplasia with multiple joint dislocations +MONDO:0007177 auriculoosteodysplasia MONDO:8000032 Orphanet:114 Orphanet:377789 obsolete malformation syndrome +MONDO:0007185 Banki syndrome MONDO:0800095 Orphanet:1228 Orphanet:93459 obsolete syndrome with synostosis or other joint formation defect +MONDO:0007185 Banki syndrome MONDO:8000032 Orphanet:1228 Orphanet:377789 obsolete malformation syndrome +MONDO:0007187 nevoid basal cell carcinoma syndrome MONDO:0015950 Orphanet:377 Orphanet:183487 obsolete inherited skin tumor +MONDO:0007187 nevoid basal cell carcinoma syndrome MONDO:0016756 Orphanet:377 Orphanet:252190 obsolete inherited nervous system cancer-predisposing syndrome +MONDO:0007187 nevoid basal cell carcinoma syndrome MONDO:0019300 Orphanet:377 Orphanet:79386 obsolete rare skin tumor or hamartoma +MONDO:0007187 nevoid basal cell carcinoma syndrome MONDO:0020063 Orphanet:377 Orphanet:98196 obsolete malformation syndrome with hamartosis +MONDO:0007187 nevoid basal cell carcinoma syndrome MONDO:8000032 Orphanet:377 Orphanet:377789 obsolete malformation syndrome +MONDO:0007188 primary basilar invagination MONDO:0015141 Orphanet:2285 Orphanet:102000 obsolete disorder of medulla oblongata +MONDO:0007188 primary basilar invagination MONDO:0026173 Orphanet:2285 Orphanet:183515 obsolete rare genetic medullar disease +MONDO:0007188 primary basilar invagination MONDO:8000030 Orphanet:2285 Orphanet:377791 obsolete morphological anomaly +MONDO:0007191 Behcet disease MONDO:0015488 Orphanet:117 Orphanet:156140 obsolete predominantly large-vessel vasculitis +MONDO:0007191 Behcet disease MONDO:0015657 Orphanet:117 Orphanet:166484 obsolete inflammatory and autoimmune disease with epilepsy +MONDO:0007191 Behcet disease MONDO:0017259 Orphanet:117 Orphanet:280926 obsolete systemic diseases with anterior uveitis +MONDO:0007191 Behcet disease MONDO:0017260 Orphanet:117 Orphanet:280930 obsolete systemic diseases with posterior uveitis +MONDO:0007191 Behcet disease MONDO:0017261 Orphanet:117 Orphanet:280933 obsolete systemic diseases with panuveitis +MONDO:0007191 Behcet disease MONDO:0017370 Orphanet:117 Orphanet:290842 obsolete autoinflammatory syndrome with skin involvement +MONDO:0007191 Behcet disease MONDO:0017957 Orphanet:117 Orphanet:324936 obsolete unclassified autoinflammatory syndrome +MONDO:0007194 familial bicuspid aortic valve MONDO:0017131 Orphanet:402075 Orphanet:271853 obsolete hereditary cardiac anomaly +MONDO:0007194 familial bicuspid aortic valve MONDO:0017311 Orphanet:402075 Orphanet:285014 obsolete rare disease with thoracic aortic aneurysm and aortic dissection +MONDO:0007194 familial bicuspid aortic valve MONDO:0020286 Orphanet:402075 Orphanet:98718 obsolete aortic malformation +MONDO:0007194 familial bicuspid aortic valve MONDO:8000030 Orphanet:402075 Orphanet:377791 obsolete morphological anomaly +MONDO:0007198 Ascher syndrome MONDO:0015331 Orphanet:1253 Orphanet:139027 obsolete malformation syndrome with skin/mucosae involvement +MONDO:0007198 Ascher syndrome MONDO:0020158 Orphanet:1253 Orphanet:98567 obsolete eyelids malposition disorder +MONDO:0007198 Ascher syndrome MONDO:0043008 Orphanet:1253 Orphanet:330206 obsolete genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability +MONDO:0007198 Ascher syndrome MONDO:8000032 Orphanet:1253 Orphanet:377789 obsolete malformation syndrome +MONDO:0007200 blepharonasofacial malformation syndrome MONDO:0015503 Orphanet:1252 Orphanet:156246 obsolete nose and cavum anomaly +MONDO:0007200 blepharonasofacial malformation syndrome MONDO:0033334 Orphanet:1252 Orphanet:435606 obsolete genetic nose and cavum anomaly +MONDO:0007200 blepharonasofacial malformation syndrome MONDO:0035863 Orphanet:1252 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0007200 blepharonasofacial malformation syndrome MONDO:8000032 Orphanet:1252 Orphanet:377789 obsolete malformation syndrome +MONDO:0007201 blepharophimosis, ptosis, and epicanthus inversus syndrome MONDO:0020169 Orphanet:126 Orphanet:98578 obsolete rare disorder with ptosis +MONDO:0007201 blepharophimosis, ptosis, and epicanthus inversus syndrome MONDO:8000032 Orphanet:126 Orphanet:377789 obsolete malformation syndrome +MONDO:0007202 blepharoptosis-myopia-ectopia lentis syndrome MONDO:0020222 Orphanet:1259 Orphanet:98638 obsolete rare disease with glaucoma as a major feature +MONDO:0007202 blepharoptosis-myopia-ectopia lentis syndrome MONDO:0034937 Orphanet:1259 Orphanet:519292 obsolete syndromic ectopia lentis +MONDO:0007203 blue rubber bleb nevus MONDO:0015948 Orphanet:1059 Orphanet:183478 obsolete rare genetic skin vascular disorder +MONDO:0007203 blue rubber bleb nevus MONDO:0016232 Orphanet:1059 Orphanet:211252 obsolete rare venous malformation +MONDO:0007203 blue rubber bleb nevus MONDO:0018730 Orphanet:1059 Orphanet:459548 obsolete rare genetic venous malformation +MONDO:0007203 blue rubber bleb nevus MONDO:8000032 Orphanet:1059 Orphanet:377789 obsolete malformation syndrome +MONDO:0007205 diaphyseal medullary stenosis-bone malignancy syndrome MONDO:0015959 Orphanet:85182 Orphanet:183527 obsolete inherited syndrome with bone tumors as a major feature +MONDO:0007205 diaphyseal medullary stenosis-bone malignancy syndrome MONDO:0800084 Orphanet:85182 Orphanet:93444 obsolete primary bone dysplasia with increased bone density +MONDO:0007207 Böök syndrome MONDO:8000032 Orphanet:1262 Orphanet:377789 obsolete malformation syndrome +MONDO:0007208 Boomerang dysplasia MONDO:0800086 Orphanet:1263 Orphanet:93441 obsolete primary bone dysplasia with multiple joint dislocations +MONDO:0007209 Weismann-Netter syndrome MONDO:8000032 Orphanet:3344 Orphanet:377789 obsolete malformation syndrome +MONDO:0007211 brachydactyly-arterial hypertension syndrome MONDO:0015512 Orphanet:1276 Orphanet:156629 obsolete genetic hypertension +MONDO:0007211 brachydactyly-arterial hypertension syndrome MONDO:0800094 Orphanet:1276 Orphanet:498454 obsolete dysostosis with brachydactyly with extraskeletal manifestations +MONDO:0007211 brachydactyly-arterial hypertension syndrome MONDO:8000032 Orphanet:1276 Orphanet:377789 obsolete malformation syndrome +MONDO:0007212 brachydactyly-long thumb syndrome MONDO:0015110 Orphanet:2946 Orphanet:101934 obsolete genetic cardiac rhythm disease +MONDO:0007212 brachydactyly-long thumb syndrome MONDO:0800094 Orphanet:2946 Orphanet:498454 obsolete dysostosis with brachydactyly with extraskeletal manifestations +MONDO:0007212 brachydactyly-long thumb syndrome MONDO:8000032 Orphanet:2946 Orphanet:377789 obsolete malformation syndrome +MONDO:0007214 brachydactyly-preaxial hallux varus syndrome MONDO:0800094 Orphanet:1278 Orphanet:498454 obsolete dysostosis with brachydactyly with extraskeletal manifestations +MONDO:0007214 brachydactyly-preaxial hallux varus syndrome MONDO:8000032 Orphanet:1278 Orphanet:377789 obsolete malformation syndrome +MONDO:0007215 brachydactyly type A1 MONDO:0800093 Orphanet:93388 Orphanet:498451 obsolete dysostosis with brachydactyly without extraskeletal manifestations +MONDO:0007215 brachydactyly type A1 MONDO:8000032 Orphanet:93388 Orphanet:377789 obsolete malformation syndrome +MONDO:0007216 brachydactyly type A2 MONDO:0800093 Orphanet:93396 Orphanet:498451 obsolete dysostosis with brachydactyly without extraskeletal manifestations +MONDO:0007216 brachydactyly type A2 MONDO:8000032 Orphanet:93396 Orphanet:377789 obsolete malformation syndrome +MONDO:0007218 brachydactyly type A4 MONDO:0800093 Orphanet:93394 Orphanet:498451 obsolete dysostosis with brachydactyly without extraskeletal manifestations +MONDO:0007218 brachydactyly type A4 MONDO:8000032 Orphanet:93394 Orphanet:377789 obsolete malformation syndrome +MONDO:0007219 Osebold-Remondini syndrome MONDO:0800093 Orphanet:93382 Orphanet:498451 obsolete dysostosis with brachydactyly without extraskeletal manifestations +MONDO:0007219 Osebold-Remondini syndrome MONDO:8000032 Orphanet:93382 Orphanet:377789 obsolete malformation syndrome +MONDO:0007220 brachydactyly type B1 MONDO:8000031 Orphanet:572385 Orphanet:557494 obsolete subtype of a disorder +MONDO:0007221 brachydactyly type C MONDO:0800093 Orphanet:93384 Orphanet:498451 obsolete dysostosis with brachydactyly without extraskeletal manifestations +MONDO:0007221 brachydactyly type C MONDO:8000032 Orphanet:93384 Orphanet:377789 obsolete malformation syndrome +MONDO:0007225 fibular aplasia-ectrodactyly syndrome MONDO:0017433 Orphanet:1118 Orphanet:294957 obsolete dysostosis with combined reduction defects of upper and lower limbs +MONDO:0007225 fibular aplasia-ectrodactyly syndrome MONDO:0800090 Orphanet:1118 Orphanet:498477 obsolete ectrodactyly with and without other manifestations +MONDO:0007225 fibular aplasia-ectrodactyly syndrome MONDO:8000032 Orphanet:1118 Orphanet:377789 obsolete malformation syndrome +MONDO:0007226 brachydactyly-nystagmus-cerebellar ataxia syndrome MONDO:0020253 Orphanet:1246 Orphanet:98683 obsolete syndrome with a symptomatic strabismus +MONDO:0007226 brachydactyly-nystagmus-cerebellar ataxia syndrome MONDO:0035863 Orphanet:1246 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0007226 brachydactyly-nystagmus-cerebellar ataxia syndrome MONDO:8000032 Orphanet:1246 Orphanet:377789 obsolete malformation syndrome +MONDO:0007227 Sillence syndrome MONDO:0017434 Orphanet:3168 Orphanet:294959 obsolete syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy +MONDO:0007227 Sillence syndrome MONDO:8000032 Orphanet:3168 Orphanet:377789 obsolete malformation syndrome +MONDO:0007230 Brachymorphism-onychodysplasia-dysphalangism syndrome MONDO:0035863 Orphanet:1292 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0007230 Brachymorphism-onychodysplasia-dysphalangism syndrome MONDO:0800094 Orphanet:1292 Orphanet:498454 obsolete dysostosis with brachydactyly with extraskeletal manifestations +MONDO:0007230 Brachymorphism-onychodysplasia-dysphalangism syndrome MONDO:8000032 Orphanet:1292 Orphanet:377789 obsolete malformation syndrome +MONDO:0007231 brachytelephalangy-dysmorphism-Kallmann syndrome MONDO:0015890 Orphanet:1295 Orphanet:181387 obsolete rare disorder with congenital hypogonadotropic hypogonadism +MONDO:0007231 brachytelephalangy-dysmorphism-Kallmann syndrome MONDO:0043008 Orphanet:1295 Orphanet:330206 obsolete genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability +MONDO:0007231 brachytelephalangy-dysmorphism-Kallmann syndrome MONDO:0800094 Orphanet:1295 Orphanet:498454 obsolete dysostosis with brachydactyly with extraskeletal manifestations +MONDO:0007231 brachytelephalangy-dysmorphism-Kallmann syndrome MONDO:8000032 Orphanet:1295 Orphanet:377789 obsolete malformation syndrome +MONDO:0007232 autosomal dominant brachyolmia MONDO:8000032 Orphanet:93304 Orphanet:377789 obsolete malformation syndrome +MONDO:0007233 second branchial cleft anomaly MONDO:8000030 Orphanet:141022 Orphanet:377791 obsolete morphological anomaly +MONDO:0007235 branchiooculofacial syndrome MONDO:0015335 Orphanet:1297 Orphanet:139039 obsolete Mendelian syndromes with cleft lip/palate +MONDO:0007235 branchiooculofacial syndrome MONDO:0043008 Orphanet:1297 Orphanet:330206 obsolete genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability +MONDO:0007235 branchiooculofacial syndrome MONDO:8000032 Orphanet:1297 Orphanet:377789 obsolete malformation syndrome +MONDO:0007237 familial juvenile hypertrophy of the breast MONDO:0015852 Orphanet:180176 Orphanet:180170 obsolete excess breast volume or number +MONDO:0007237 familial juvenile hypertrophy of the breast MONDO:8000030 Orphanet:180176 Orphanet:377791 obsolete morphological anomaly +MONDO:0007244 Caffey disease MONDO:8000032 Orphanet:1310 Orphanet:377789 obsolete malformation syndrome +MONDO:0007245 cafe au lait spots, multiple MONDO:8000032 Orphanet:2678 Orphanet:377789 obsolete malformation syndrome +MONDO:0007248 hereditary painful callosities MONDO:0017673 Orphanet:79141 Orphanet:307846 obsolete isolated focal palmoplantar keratoderma +MONDO:0007249 camptobrachydactyly MONDO:0800093 Orphanet:1319 Orphanet:498451 obsolete dysostosis with brachydactyly without extraskeletal manifestations +MONDO:0007249 camptobrachydactyly MONDO:8000032 Orphanet:1319 Orphanet:377789 obsolete malformation syndrome +MONDO:0007250 camptodactyly of fingers MONDO:0017428 Orphanet:295016 Orphanet:294947 obsolete congenital deformities of fingers +MONDO:0007250 camptodactyly of fingers MONDO:8000030 Orphanet:295016 Orphanet:377791 obsolete morphological anomaly +MONDO:0007251 campomelic dysplasia MONDO:0017978 Orphanet:140 Orphanet:325638 obsolete syndrome with disorder of sex development of gynecological interest +MONDO:0007251 campomelic dysplasia MONDO:0020042 Orphanet:140 Orphanet:98087 obsolete syndrome with 46,XY disorder of sex development +MONDO:0007251 campomelic dysplasia MONDO:0035863 Orphanet:140 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0007251 campomelic dysplasia MONDO:8000032 Orphanet:140 Orphanet:377789 obsolete malformation syndrome +MONDO:0007252 Gordon syndrome MONDO:0015335 Orphanet:376 Orphanet:139039 obsolete Mendelian syndromes with cleft lip/palate +MONDO:0007252 Gordon syndrome MONDO:0043008 Orphanet:376 Orphanet:330206 obsolete genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability +MONDO:0007252 Gordon syndrome MONDO:8000032 Orphanet:376 Orphanet:377789 obsolete malformation syndrome +MONDO:0007259 craniofaciofrontodigital syndrome MONDO:0035863 Orphanet:363705 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0007259 craniofaciofrontodigital syndrome MONDO:0800085 Orphanet:363705 Orphanet:93453 obsolete dysostosis with predominant craniofacial involvement +MONDO:0007269 dilated cardiomyopathy 1A MONDO:0029810 Orphanet:300751 Orphanet:300755 obsolete laminopathy with striated muscle involvement +MONDO:0007272 hereditary hypercarotenemia and vitamin A deficiency MONDO:0017760 Orphanet:199285 Orphanet:309833 obsolete disorder of other vitamins and cofactors metabolism and transport +MONDO:0007276 cat-eye syndrome MONDO:0015246 Orphanet:195 Orphanet:117573 obsolete syndromic anorectal malformation +MONDO:0007276 cat-eye syndrome MONDO:0016998 Orphanet:195 Orphanet:263708 obsolete complex chromosomal rearrangement +MONDO:0007276 cat-eye syndrome MONDO:0019721 Orphanet:195 Orphanet:93547 obsolete syndromic renal or urinary tract malformation +MONDO:0007276 cat-eye syndrome MONDO:8000032 Orphanet:195 Orphanet:377789 obsolete malformation syndrome +MONDO:0007277 cataract-aberrant oral frenula-growth delay syndrome MONDO:0020225 Orphanet:1373 Orphanet:98641 obsolete syndromic cataract +MONDO:0007277 cataract-aberrant oral frenula-growth delay syndrome MONDO:0043008 Orphanet:1373 Orphanet:330206 obsolete genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability +MONDO:0007277 cataract-aberrant oral frenula-growth delay syndrome MONDO:8000032 Orphanet:1373 Orphanet:377789 obsolete malformation syndrome +MONDO:0007293 leukocyte adhesion deficiency 1 MONDO:8000031 Orphanet:99842 Orphanet:557494 obsolete subtype of a disorder +MONDO:0007294 central core myopathy MONDO:0015765 Orphanet:597 Orphanet:172976 obsolete congenital myopathy with cores +MONDO:0007297 ADan amyloidosis MONDO:8000031 Orphanet:97346 Orphanet:557494 obsolete subtype of a disorder +MONDO:0007301 cerebrocostomandibular syndrome MONDO:0019711 Orphanet:1393 Orphanet:93454 obsolete dysostosis with predominant vertebral and costal involvement +MONDO:0007301 cerebrocostomandibular syndrome MONDO:0035863 Orphanet:1393 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0007301 cerebrocostomandibular syndrome MONDO:8000032 Orphanet:1393 Orphanet:377789 obsolete malformation syndrome +MONDO:0007311 Charcot-Marie-Tooth disease type 1E MONDO:0019589 Orphanet:90658 Orphanet:90642 obsolete syndromic genetic hearing loss +MONDO:0007313 cheilitis glandularis MONDO:0019546 Orphanet:1221 Orphanet:90077 obsolete other acquired skin disease +MONDO:0007315 cherubism MONDO:0017369 Orphanet:184 Orphanet:290839 obsolete autoinflammatory syndrome with immune deficiency +MONDO:0007315 cherubism MONDO:0017957 Orphanet:184 Orphanet:324936 obsolete unclassified autoinflammatory syndrome +MONDO:0007315 cherubism MONDO:0020014 Orphanet:184 Orphanet:98027 obsolete rare disease with odontological manifestation +MONDO:0007315 cherubism MONDO:0043008 Orphanet:184 Orphanet:330206 obsolete genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability +MONDO:0007315 cherubism MONDO:0800089 Orphanet:184 Orphanet:93450 obsolete primary bone dysplasia with disorganized development of skeletal components +MONDO:0007315 cherubism MONDO:8000032 Orphanet:184 Orphanet:377789 obsolete malformation syndrome +MONDO:0007316 Chiari malformation type I MONDO:0017085 Orphanet:268882 Orphanet:268843 obsolete malformation of the neurenteric canal, spinal cord and column +MONDO:0007316 Chiari malformation type I MONDO:8000030 Orphanet:268882 Orphanet:377791 obsolete morphological anomaly +MONDO:0007318 Alagille syndrome MONDO:0015116 Orphanet:52 Orphanet:101941 obsolete rare biliary tract disease +MONDO:0007318 Alagille syndrome MONDO:0015214 Orphanet:52 Orphanet:108973 obsolete syndromic visceral malformation +MONDO:0007318 Alagille syndrome MONDO:0015506 Orphanet:52 Orphanet:156532 obsolete rare syndrome with cardiac malformations +MONDO:0007318 Alagille syndrome MONDO:0015509 Orphanet:52 Orphanet:156607 obsolete hereditary biliary tract disease +MONDO:0007318 Alagille syndrome MONDO:0015945 Orphanet:52 Orphanet:183422 obsolete polymalformative genetic syndrome with increased risk of developing cancer +MONDO:0007318 Alagille syndrome MONDO:0019721 Orphanet:52 Orphanet:93547 obsolete syndromic renal or urinary tract malformation +MONDO:0007318 Alagille syndrome MONDO:0043008 Orphanet:52 Orphanet:330206 obsolete genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability +MONDO:0007318 Alagille syndrome MONDO:8000032 Orphanet:52 Orphanet:377789 obsolete malformation syndrome +MONDO:0007319 chondrocalcinosis 2 MONDO:0015940 Orphanet:1416 Orphanet:182231 obsolete rare rheumatologic disease +MONDO:0007319 chondrocalcinosis 2 MONDO:0019705 Orphanet:1416 Orphanet:93447 obsolete primary bone dysplasia with defective bone mineralization +MONDO:0007319 chondrocalcinosis 2 MONDO:0028795 Orphanet:1416 Orphanet:271870 obsolete rare genetic systemic or rheumatologic disease +MONDO:0007322 chondrodysplasia punctata, tibial-metacarpal type MONDO:8000032 Orphanet:79346 Orphanet:377789 obsolete malformation syndrome +MONDO:0007330 congenital pseudoarthrosis of clavicle MONDO:0018454 Orphanet:66630 Orphanet:404568 obsolete dysostosis of genetic origin +MONDO:0007334 autosomal dominant popliteal pterygium syndrome MONDO:0035863 Orphanet:1300 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0007334 autosomal dominant popliteal pterygium syndrome MONDO:8000032 Orphanet:1300 Orphanet:377789 obsolete malformation syndrome +MONDO:0007337 cleft palate-lateral synechia syndrome MONDO:0015335 Orphanet:2016 Orphanet:139039 obsolete Mendelian syndromes with cleft lip/palate +MONDO:0007337 cleft palate-lateral synechia syndrome MONDO:0043008 Orphanet:2016 Orphanet:330206 obsolete genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability +MONDO:0007337 cleft palate-lateral synechia syndrome MONDO:8000032 Orphanet:2016 Orphanet:377789 obsolete malformation syndrome +MONDO:0007338 cleft soft palate MONDO:8000030 Orphanet:99772 Orphanet:377791 obsolete morphological anomaly +MONDO:0007339 blepharocheilodontic syndrome MONDO:0015335 Orphanet:1997 Orphanet:139039 obsolete Mendelian syndromes with cleft lip/palate +MONDO:0007339 blepharocheilodontic syndrome MONDO:0015336 Orphanet:1997 Orphanet:139042 obsolete malformation syndrome with odontal and/or periodontal component +MONDO:0007339 blepharocheilodontic syndrome MONDO:0026190 Orphanet:1997 Orphanet:183580 obsolete genetic malformation syndrome with odontal and/or periodontal component +MONDO:0007339 blepharocheilodontic syndrome MONDO:0043008 Orphanet:1997 Orphanet:330206 obsolete genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability +MONDO:0007339 blepharocheilodontic syndrome MONDO:8000032 Orphanet:1997 Orphanet:377789 obsolete malformation syndrome +MONDO:0007340 cleidocranial dysplasia 1 MONDO:0015336 Orphanet:1452 Orphanet:139042 obsolete malformation syndrome with odontal and/or periodontal component +MONDO:0007340 cleidocranial dysplasia 1 MONDO:0019709 Orphanet:1452 Orphanet:93451 obsolete cleidocranial dysplasia and isolated cranial ossification defect +MONDO:0007340 cleidocranial dysplasia 1 MONDO:0020018 Orphanet:1452 Orphanet:98038 obsolete cranial malformation +MONDO:0007340 cleidocranial dysplasia 1 MONDO:0026182 Orphanet:1452 Orphanet:183542 obsolete genetic cranial malformation +MONDO:0007340 cleidocranial dysplasia 1 MONDO:8000032 Orphanet:1452 Orphanet:377789 obsolete malformation syndrome +MONDO:0007341 cleidorhizomelic syndrome MONDO:0019697 Orphanet:1453 Orphanet:93438 obsolete mesomelic and rhizo-mesomelic dysplasia +MONDO:0007341 cleidorhizomelic syndrome MONDO:8000032 Orphanet:1453 Orphanet:377789 obsolete malformation syndrome +MONDO:0007343 isolated congenital digital clubbing MONDO:0017429 Orphanet:217059 Orphanet:294949 obsolete joint formation defects +MONDO:0007343 isolated congenital digital clubbing MONDO:8000030 Orphanet:217059 Orphanet:377791 obsolete morphological anomaly +MONDO:0007345 aorta coarctation MONDO:0020286 Orphanet:1457 Orphanet:98718 obsolete aortic malformation +MONDO:0007345 aorta coarctation MONDO:8000030 Orphanet:1457 Orphanet:377791 obsolete morphological anomaly +MONDO:0007346 cochleosaccular degeneration-cataract syndrome MONDO:0019589 Orphanet:3233 Orphanet:90642 obsolete syndromic genetic hearing loss +MONDO:0007346 cochleosaccular degeneration-cataract syndrome MONDO:0020225 Orphanet:3233 Orphanet:98641 obsolete syndromic cataract +MONDO:0007346 cochleosaccular degeneration-cataract syndrome MONDO:8000032 Orphanet:3233 Orphanet:377789 obsolete malformation syndrome +MONDO:0007351 coloboma of macula MONDO:0020145 Orphanet:98945 Orphanet:98553 obsolete developmental defect of the eye +MONDO:0007351 coloboma of macula MONDO:0026186 Orphanet:98945 Orphanet:183557 obsolete genetic developmental defect of the eye +MONDO:0007351 coloboma of macula MONDO:8000030 Orphanet:98945 Orphanet:377791 obsolete morphological anomaly +MONDO:0007352 renal coloboma syndrome MONDO:0019721 Orphanet:1475 Orphanet:93547 obsolete syndromic renal or urinary tract malformation +MONDO:0007352 renal coloboma syndrome MONDO:8000032 Orphanet:1475 Orphanet:377789 obsolete malformation syndrome +MONDO:0007353 coloboma of macula-brachydactyly type B syndrome MONDO:0020145 Orphanet:1471 Orphanet:98553 obsolete developmental defect of the eye +MONDO:0007353 coloboma of macula-brachydactyly type B syndrome MONDO:0026186 Orphanet:1471 Orphanet:183557 obsolete genetic developmental defect of the eye +MONDO:0007353 coloboma of macula-brachydactyly type B syndrome MONDO:8000032 Orphanet:1471 Orphanet:377789 obsolete malformation syndrome +MONDO:0007354 coloboma of optic nerve MONDO:8000030 Orphanet:98947 Orphanet:377791 obsolete morphological anomaly +MONDO:0007355 uveal coloboma-cleft lip and palate-intellectual disability MONDO:0015335 Orphanet:1473 Orphanet:139039 obsolete Mendelian syndromes with cleft lip/palate +MONDO:0007355 uveal coloboma-cleft lip and palate-intellectual disability MONDO:0035863 Orphanet:1473 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0007355 uveal coloboma-cleft lip and palate-intellectual disability MONDO:8000032 Orphanet:1473 Orphanet:377789 obsolete malformation syndrome +MONDO:0007363 congenital contractural arachnodactyly MONDO:0800091 Orphanet:115 Orphanet:498448 obsolete overgrowth or tall stature syndrome with skeletal involvement +MONDO:0007363 congenital contractural arachnodactyly MONDO:8000032 Orphanet:115 Orphanet:377789 obsolete malformation syndrome +MONDO:0007382 Ramos-Arroyo syndrome MONDO:0019589 Orphanet:1051 Orphanet:90642 obsolete syndromic genetic hearing loss +MONDO:0007382 Ramos-Arroyo syndrome MONDO:0034953 Orphanet:1051 Orphanet:519325 obsolete syndromic inherited retinal disorder +MONDO:0007382 Ramos-Arroyo syndrome MONDO:0035863 Orphanet:1051 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0007382 Ramos-Arroyo syndrome MONDO:8000032 Orphanet:1051 Orphanet:377789 obsolete malformation syndrome +MONDO:0007383 Stern-Lubinsky-Durrie syndrome MONDO:0020215 Orphanet:3194 Orphanet:98628 obsolete syndromic corneal dystrophy +MONDO:0007383 Stern-Lubinsky-Durrie syndrome MONDO:8000032 Orphanet:3194 Orphanet:377789 obsolete malformation syndrome +MONDO:0007384 congenital trigeminal anesthesia MONDO:0034965 Orphanet:231013 Orphanet:519349 obsolete rare ophthalmic disorder with cranial nerve involvement +MONDO:0007385 idiopathic spontaneous coronary artery dissection MONDO:0024471 Orphanet:458718 Orphanet:496924 obsolete non-inflammatory vasculopathy +MONDO:0007388 congenitally short costocoracoid ligament MONDO:8000032 Orphanet:2391 Orphanet:377789 obsolete malformation syndrome +MONDO:0007392 coxoauricular syndrome MONDO:0800086 Orphanet:1508 Orphanet:93441 obsolete primary bone dysplasia with multiple joint dislocations +MONDO:0007392 coxoauricular syndrome MONDO:8000032 Orphanet:1508 Orphanet:377789 obsolete malformation syndrome +MONDO:0007395 craniofacial-deafness-hand syndrome MONDO:0019589 Orphanet:1529 Orphanet:90642 obsolete syndromic genetic hearing loss +MONDO:0007395 craniofacial-deafness-hand syndrome MONDO:0043008 Orphanet:1529 Orphanet:330206 obsolete genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability +MONDO:0007395 craniofacial-deafness-hand syndrome MONDO:8000032 Orphanet:1529 Orphanet:377789 obsolete malformation syndrome +MONDO:0007396 dysostosis, Stanescu type MONDO:0800084 Orphanet:1798 Orphanet:93444 obsolete primary bone dysplasia with increased bone density +MONDO:0007396 dysostosis, Stanescu type MONDO:8000032 Orphanet:1798 Orphanet:377789 obsolete malformation syndrome +MONDO:0007398 craniorhiny MONDO:0015503 Orphanet:157832 Orphanet:156246 obsolete nose and cavum anomaly +MONDO:0007398 craniorhiny MONDO:8000032 Orphanet:157832 Orphanet:377789 obsolete malformation syndrome +MONDO:0007400 Jackson-Weiss syndrome MONDO:8000032 Orphanet:1540 Orphanet:377789 obsolete malformation syndrome +MONDO:0007401 craniosynostosis-Dandy-Walker malformation-hydrocephalus syndrome MONDO:0017121 Orphanet:1538 Orphanet:269546 obsolete syndrome with a Dandy-Walker malformation as major feature +MONDO:0007401 craniosynostosis-Dandy-Walker malformation-hydrocephalus syndrome MONDO:8000032 Orphanet:1538 Orphanet:377789 obsolete malformation syndrome +MONDO:0007403 inherited Creutzfeldt-Jakob disease MONDO:0017234 Orphanet:282166 Orphanet:280400 obsolete inherited prion disease +MONDO:0007403 inherited Creutzfeldt-Jakob disease MONDO:0017641 Orphanet:282166 Orphanet:306695 obsolete miscellaneous movement disorder due to neurodegenerative disease +MONDO:0007403 inherited Creutzfeldt-Jakob disease MONDO:0017662 Orphanet:282166 Orphanet:307058 obsolete miscellaneous movement disorder due to genetic neurodegenerative disease +MONDO:0007404 Cri-du-chat syndrome MONDO:0020165 Orphanet:281 Orphanet:98574 obsolete syndromic epicanthus +MONDO:0007404 Cri-du-chat syndrome MONDO:0020226 Orphanet:281 Orphanet:98642 obsolete chromosomal anomaly with cataract +MONDO:0007404 Cri-du-chat syndrome MONDO:8000032 Orphanet:281 Orphanet:377789 obsolete malformation syndrome +MONDO:0007405 Crouzon syndrome MONDO:0020234 Orphanet:207 Orphanet:98650 obsolete craniofacial anomaly with cataract +MONDO:0007405 Crouzon syndrome MONDO:0020254 Orphanet:207 Orphanet:98684 obsolete craniostenosis associated with a strabismus +MONDO:0007405 Crouzon syndrome MONDO:8000032 Orphanet:207 Orphanet:377789 obsolete malformation syndrome +MONDO:0007407 Cryoglobulinemic vasculitis MONDO:0016177 Orphanet:91138 Orphanet:209007 obsolete systemic inflammatory disease associated with an acquired peripheral neuropathy +MONDO:0007407 Cryoglobulinemic vasculitis MONDO:0017038 Orphanet:91138 Orphanet:264973 obsolete secondary interstitial lung disease in childhood and adulthood associated with a systemic vasculitis +MONDO:0007409 cryptomicrotia-brachydactyly-excess fingertip arch syndrome MONDO:0043008 Orphanet:1547 Orphanet:330206 obsolete genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability +MONDO:0007409 cryptomicrotia-brachydactyly-excess fingertip arch syndrome MONDO:8000032 Orphanet:1547 Orphanet:377789 obsolete malformation syndrome +MONDO:0007410 isolated cryptophthalmia MONDO:8000030 Orphanet:91396 Orphanet:377791 obsolete morphological anomaly +MONDO:0007412 Beare-Stevenson cutis gyrata syndrome MONDO:0018798 Orphanet:1555 Orphanet:477808 obsolete other genetic dermis disorder +MONDO:0007412 Beare-Stevenson cutis gyrata syndrome MONDO:0043008 Orphanet:1555 Orphanet:330206 obsolete genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability +MONDO:0007412 Beare-Stevenson cutis gyrata syndrome MONDO:8000032 Orphanet:1555 Orphanet:377789 obsolete malformation syndrome +MONDO:0007413 Cyprus facial-neuromusculoskeletal syndrome MONDO:0020225 Orphanet:2674 Orphanet:98641 obsolete syndromic cataract +MONDO:0007413 Cyprus facial-neuromusculoskeletal syndrome MONDO:0020253 Orphanet:2674 Orphanet:98683 obsolete syndrome with a symptomatic strabismus +MONDO:0007413 Cyprus facial-neuromusculoskeletal syndrome MONDO:0043008 Orphanet:2674 Orphanet:330206 obsolete genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability +MONDO:0007413 Cyprus facial-neuromusculoskeletal syndrome MONDO:8000032 Orphanet:2674 Orphanet:377789 obsolete malformation syndrome +MONDO:0007414 Gorham-Stout disease MONDO:0015940 Orphanet:73 Orphanet:182231 obsolete rare rheumatologic disease +MONDO:0007414 Gorham-Stout disease MONDO:0016524 Orphanet:73 Orphanet:235832 obsolete congenital vascular bone syndrome +MONDO:0007414 Gorham-Stout disease MONDO:0800089 Orphanet:73 Orphanet:93450 obsolete primary bone dysplasia with disorganized development of skeletal components +MONDO:0007414 Gorham-Stout disease MONDO:8000032 Orphanet:73 Orphanet:377789 obsolete malformation syndrome +MONDO:0007417 Darier disease MONDO:0019274 Orphanet:218 Orphanet:79359 obsolete other epidermal disorder +MONDO:0007417 Darier disease MONDO:0019275 Orphanet:218 Orphanet:79360 obsolete other genetic epidermal disease +MONDO:0007420 autosomal dominant deafness - onychodystrophy syndrome MONDO:0017922 Orphanet:79499 Orphanet:3231 obsolete deafness-onychodystrophy syndrome +MONDO:0007420 autosomal dominant deafness - onychodystrophy syndrome MONDO:8000032 Orphanet:79499 Orphanet:377789 obsolete malformation syndrome +MONDO:0007421 deafness-ear malformation-facial palsy syndrome MONDO:0019589 Orphanet:3232 Orphanet:90642 obsolete syndromic genetic hearing loss +MONDO:0007421 deafness-ear malformation-facial palsy syndrome MONDO:8000032 Orphanet:3232 Orphanet:377789 obsolete malformation syndrome +MONDO:0007422 keratoderma hereditarium mutilans MONDO:0017670 Orphanet:494 Orphanet:307773 obsolete autosomal dominant diffuse mutilating palmoplantar keratoderma +MONDO:0007422 keratoderma hereditarium mutilans MONDO:0019589 Orphanet:494 Orphanet:90642 obsolete syndromic genetic hearing loss +MONDO:0007428 deafness-craniofacial syndrome MONDO:0019589 Orphanet:3241 Orphanet:90642 obsolete syndromic genetic hearing loss +MONDO:0007428 deafness-craniofacial syndrome MONDO:0043008 Orphanet:3241 Orphanet:330206 obsolete genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability +MONDO:0007428 deafness-craniofacial syndrome MONDO:8000032 Orphanet:3241 Orphanet:377789 obsolete malformation syndrome +MONDO:0007434 primary failure of tooth eruption MONDO:0015603 Orphanet:412206 Orphanet:164001 obsolete rare odontal or periodontal disorder +MONDO:0007434 primary failure of tooth eruption MONDO:0018488 Orphanet:412206 Orphanet:420755 obsolete rare genetic odontal or periodontal disorder +MONDO:0007436 dentin dysplasia type I MONDO:8000031 Orphanet:99789 Orphanet:557494 obsolete subtype of a disorder +MONDO:0007437 dentin dysplasia type II MONDO:8000031 Orphanet:99791 Orphanet:557494 obsolete subtype of a disorder +MONDO:0007438 dentin dysplasia-sclerotic bones syndrome MONDO:0019183 Orphanet:99792 Orphanet:77830 obsolete inherited odontologic disease +MONDO:0007438 dentin dysplasia-sclerotic bones syndrome MONDO:0020014 Orphanet:99792 Orphanet:98027 obsolete rare disease with odontological manifestation +MONDO:0007441 dentinogenesis imperfecta type 2 MONDO:8000031 Orphanet:166260 Orphanet:557494 obsolete subtype of a disorder +MONDO:0007442 dentinogenesis imperfecta type 3 MONDO:8000031 Orphanet:166265 Orphanet:557494 obsolete subtype of a disorder +MONDO:0007443 congenital unilateral hypoplasia of depressor anguli oris MONDO:0015475 Orphanet:1166 Orphanet:155832 obsolete rare head and neck malformation +MONDO:0007443 congenital unilateral hypoplasia of depressor anguli oris MONDO:8000030 Orphanet:1166 Orphanet:377791 obsolete morphological anomaly +MONDO:0007445 dermatopathia pigmentosa reticularis MONDO:0020094 Orphanet:86920 Orphanet:98352 obsolete autosomal dominant disease with diffuse palmoplantar keratoderma as a major feature +MONDO:0007447 autosomal dominant vibratory urticaria MONDO:0019298 Orphanet:493342 Orphanet:79384 obsolete rare urticaria +MONDO:0007447 autosomal dominant vibratory urticaria MONDO:0026141 Orphanet:493342 Orphanet:182734 obsolete genetic urticaria +MONDO:0007449 dermo-odonto dysplasia MONDO:0015336 Orphanet:1660 Orphanet:139042 obsolete malformation syndrome with odontal and/or periodontal component +MONDO:0007449 dermo-odonto dysplasia MONDO:0026190 Orphanet:1660 Orphanet:183580 obsolete genetic malformation syndrome with odontal and/or periodontal component +MONDO:0007449 dermo-odonto dysplasia MONDO:8000032 Orphanet:1660 Orphanet:377789 obsolete malformation syndrome +MONDO:0007450 neurohypophyseal diabetes insipidus MONDO:8000031 Orphanet:30925 Orphanet:557494 obsolete subtype of a disorder +MONDO:0007461 short stature-valvular heart disease-characteristic facies syndrome MONDO:0043008 Orphanet:2868 Orphanet:330206 obsolete genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability +MONDO:0007461 short stature-valvular heart disease-characteristic facies syndrome MONDO:8000032 Orphanet:2868 Orphanet:377789 obsolete malformation syndrome +MONDO:0007464 obsolete isolated distichiasis MONDO:0020184 Orphanet:99177 Orphanet:98594 obsolete rare eyebrow/eyelashes anomaly +MONDO:0007464 obsolete isolated distichiasis MONDO:8000030 Orphanet:99177 Orphanet:377791 obsolete morphological anomaly +MONDO:0007470 calvarial doughnut lesions-bone fragility syndrome MONDO:0019704 Orphanet:85192 Orphanet:93446 obsolete primary bone dysplasia with decreased bone density +MONDO:0007470 calvarial doughnut lesions-bone fragility syndrome MONDO:8000032 Orphanet:85192 Orphanet:377789 obsolete malformation syndrome +MONDO:0007473 Duane retraction syndrome MONDO:0020132 Orphanet:233 Orphanet:98518 obsolete cranial nerve and nuclear aplasia +MONDO:0007473 Duane retraction syndrome MONDO:0034961 Orphanet:233 Orphanet:519341 obsolete rare brainstem or cerebellar disorder with ophthalmic involvement as a major feature +MONDO:0007473 Duane retraction syndrome MONDO:8000032 Orphanet:233 Orphanet:377789 obsolete malformation syndrome +MONDO:0007477 3-M syndrome MONDO:0015329 Orphanet:2616 Orphanet:139021 obsolete malformation syndrome with short stature +MONDO:0007477 3-M syndrome MONDO:0019699 Orphanet:2616 Orphanet:93440 obsolete slender bone dysplasia +MONDO:0007477 3-M syndrome MONDO:0026187 Orphanet:2616 Orphanet:183570 obsolete genetic malformation syndrome with short stature +MONDO:0007477 3-M syndrome MONDO:0043008 Orphanet:2616 Orphanet:330206 obsolete genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability +MONDO:0007477 3-M syndrome MONDO:8000032 Orphanet:2616 Orphanet:377789 obsolete malformation syndrome +MONDO:0007478 autosomal dominant Kenny-Caffey syndrome MONDO:8000031 Orphanet:93325 Orphanet:557494 obsolete subtype of a disorder +MONDO:0007481 Leri-Weill dyschondrosteosis MONDO:0019697 Orphanet:240 Orphanet:93438 obsolete mesomelic and rhizo-mesomelic dysplasia +MONDO:0007481 Leri-Weill dyschondrosteosis MONDO:8000032 Orphanet:240 Orphanet:377789 obsolete malformation syndrome +MONDO:0007482 dyschondrosteosis-nephritis syndrome MONDO:0019697 Orphanet:1765 Orphanet:93438 obsolete mesomelic and rhizo-mesomelic dysplasia +MONDO:0007482 dyschondrosteosis-nephritis syndrome MONDO:0019721 Orphanet:1765 Orphanet:93547 obsolete syndromic renal or urinary tract malformation +MONDO:0007482 dyschondrosteosis-nephritis syndrome MONDO:8000032 Orphanet:1765 Orphanet:377789 obsolete malformation syndrome +MONDO:0007489 dysplasia epiphysealis hemimelica MONDO:0800089 Orphanet:1822 Orphanet:93450 obsolete primary bone dysplasia with disorganized development of skeletal components +MONDO:0007489 dysplasia epiphysealis hemimelica MONDO:8000032 Orphanet:1822 Orphanet:377789 obsolete malformation syndrome +MONDO:0007490 carpotarsal osteochondromatosis MONDO:0800089 Orphanet:2767 Orphanet:93450 obsolete primary bone dysplasia with disorganized development of skeletal components +MONDO:0007490 carpotarsal osteochondromatosis MONDO:8000032 Orphanet:2767 Orphanet:377789 obsolete malformation syndrome +MONDO:0007495 dystonia 5 MONDO:0035862 Orphanet:98808 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome +MONDO:0007496 dystonia 12 MONDO:0017660 Orphanet:71517 Orphanet:307052 obsolete rare genetic parkinsonian disorder +MONDO:0007496 dystonia 12 MONDO:0018329 Orphanet:71517 Orphanet:391711 obsolete persistent combined dystonia +MONDO:0007496 dystonia 12 MONDO:0019059 Orphanet:71517 Orphanet:68402 obsolete rare parkinsonian disorder +MONDO:0007504 thickened earlobes-conductive deafness syndrome MONDO:0019589 Orphanet:2405 Orphanet:90642 obsolete syndromic genetic hearing loss +MONDO:0007504 thickened earlobes-conductive deafness syndrome MONDO:8000032 Orphanet:2405 Orphanet:377789 obsolete malformation syndrome +MONDO:0007507 absence of fingerprints-congenital milia syndrome MONDO:0019274 Orphanet:1658 Orphanet:79359 obsolete other epidermal disorder +MONDO:0007507 absence of fingerprints-congenital milia syndrome MONDO:0019275 Orphanet:1658 Orphanet:79360 obsolete other genetic epidermal disease +MONDO:0007510 Clouston syndrome MONDO:0020094 Orphanet:189 Orphanet:98352 obsolete autosomal dominant disease with diffuse palmoplantar keratoderma as a major feature +MONDO:0007510 Clouston syndrome MONDO:0020225 Orphanet:189 Orphanet:98641 obsolete syndromic cataract +MONDO:0007511 ectodermal dysplasia, trichoodontoonychial type MONDO:0015336 Orphanet:1818 Orphanet:139042 obsolete malformation syndrome with odontal and/or periodontal component +MONDO:0007511 ectodermal dysplasia, trichoodontoonychial type MONDO:0026190 Orphanet:1818 Orphanet:183580 obsolete genetic malformation syndrome with odontal and/or periodontal component +MONDO:0007511 ectodermal dysplasia, trichoodontoonychial type MONDO:8000032 Orphanet:1818 Orphanet:377789 obsolete malformation syndrome +MONDO:0007519 Edinburgh malformation syndrome MONDO:0018731 Orphanet:1895 Orphanet:459787 obsolete lethal multiple congenital anomalies/dysmorphic syndrome +MONDO:0007519 Edinburgh malformation syndrome MONDO:8000032 Orphanet:1895 Orphanet:377789 obsolete malformation syndrome +MONDO:0007522 Ehlers-Danlos syndrome, classic type MONDO:0015216 Orphanet:287 Orphanet:108979 obsolete syndromic diaphragmatic or abdominal wall malformation +MONDO:0007522 Ehlers-Danlos syndrome, classic type MONDO:0015669 Orphanet:287 Orphanet:167762 obsolete rare disease with dentinogenesis imperfecta +MONDO:0007522 Ehlers-Danlos syndrome, classic type MONDO:0015880 Orphanet:287 Orphanet:180779 obsolete syndromic diaphragmatic or thoracic malformation +MONDO:0007526 Ehlers-Danlos syndrome, spondylodysplastic type MONDO:0017742 Orphanet:75496 Orphanet:309450 obsolete disorder of O-xylosylglycan synthesis +MONDO:0007526 Ehlers-Danlos syndrome, spondylodysplastic type MONDO:0018292 Orphanet:75496 Orphanet:371195 obsolete congenital disorder of glycosylation-related bone disorder +MONDO:0007526 Ehlers-Danlos syndrome, spondylodysplastic type MONDO:0035863 Orphanet:75496 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0007526 Ehlers-Danlos syndrome, spondylodysplastic type MONDO:0800095 Orphanet:75496 Orphanet:93459 obsolete syndrome with synostosis or other joint formation defect +MONDO:0007526 Ehlers-Danlos syndrome, spondylodysplastic type MONDO:8000031 Orphanet:75496 Orphanet:557494 obsolete subtype of a disorder +MONDO:0007527 Ehlers-Danlos syndrome, periodontitis type MONDO:0020014 Orphanet:75392 Orphanet:98027 obsolete rare disease with odontological manifestation +MONDO:0007529 elastosis perforans serpiginosa MONDO:0016436 Orphanet:79148 Orphanet:228224 obsolete acquired dermis elastic tissue disorder with increased elastic tissue +MONDO:0007534 Beckwith-Wiedemann syndrome MONDO:0015501 Orphanet:116 Orphanet:156237 obsolete syndrome or malformation associated with head and neck malformations +MONDO:0007534 Beckwith-Wiedemann syndrome MONDO:0015945 Orphanet:116 Orphanet:183422 obsolete polymalformative genetic syndrome with increased risk of developing cancer +MONDO:0007534 Beckwith-Wiedemann syndrome MONDO:0017891 Orphanet:116 Orphanet:319328 obsolete inherited renal cancer-predisposing syndrome +MONDO:0007534 Beckwith-Wiedemann syndrome MONDO:0019721 Orphanet:116 Orphanet:93547 obsolete syndromic renal or urinary tract malformation +MONDO:0007534 Beckwith-Wiedemann syndrome MONDO:0026989 Orphanet:116 Orphanet:217595 obsolete syndrome associated with hypertrophic cardiomyopathy +MONDO:0007534 Beckwith-Wiedemann syndrome MONDO:8000032 Orphanet:116 Orphanet:377789 obsolete malformation syndrome +MONDO:0007536 congenital lobar emphysema MONDO:0015221 Orphanet:1928 Orphanet:108993 obsolete non-syndromic respiratory or mediastinal malformation +MONDO:0007536 congenital lobar emphysema MONDO:0015930 Orphanet:1928 Orphanet:182111 obsolete respiratory malformation +MONDO:0007536 congenital lobar emphysema MONDO:0026203 Orphanet:1928 Orphanet:183622 obsolete genetic respiratory malformation +MONDO:0007536 congenital lobar emphysema MONDO:8000030 Orphanet:1928 Orphanet:377791 obsolete morphological anomaly +MONDO:0007537 lateral meningocele syndrome MONDO:0017085 Orphanet:2789 Orphanet:268843 obsolete malformation of the neurenteric canal, spinal cord and column +MONDO:0007537 lateral meningocele syndrome MONDO:8000032 Orphanet:2789 Orphanet:377789 obsolete malformation syndrome +MONDO:0007539 encephalopathy, recurrent, of childhood MONDO:8000032 Orphanet:2672 Orphanet:377789 obsolete malformation syndrome +MONDO:0007540 multiple endocrine neoplasia type 1 MONDO:0017820 Orphanet:652 Orphanet:314749 obsolete obsolete disease with Cushing syndrome as a major feature +MONDO:0007540 multiple endocrine neoplasia type 1 MONDO:0018538 Orphanet:652 Orphanet:425003 obsolete inherited digestive cancer-predisposing syndrome +MONDO:0007542 Camurati-Engelmann disease MONDO:0800084 Orphanet:1328 Orphanet:93444 obsolete primary bone dysplasia with increased bone density +MONDO:0007542 Camurati-Engelmann disease MONDO:8000032 Orphanet:1328 Orphanet:377789 obsolete malformation syndrome +MONDO:0007550 epidermolysis bullosa simplex 1A, generalized severe MONDO:0035684 Orphanet:79396 Orphanet:595346 obsolete epidermolysis bullosa simplex without extracutaneous involvement +MONDO:0007551 epidermolysis bullosa simplex 1C, localized MONDO:0035684 Orphanet:79400 Orphanet:595346 obsolete epidermolysis bullosa simplex without extracutaneous involvement +MONDO:0007552 pretibial dystrophic epidermolysis bullosa MONDO:8000031 Orphanet:79410 Orphanet:557494 obsolete subtype of a disorder +MONDO:0007554 epidermolysis bullosa simplex 1B, generalized intermediate MONDO:0035684 Orphanet:79399 Orphanet:595346 obsolete epidermolysis bullosa simplex without extracutaneous involvement +MONDO:0007555 pidermolysis bullosa simplex 5A, Ogna type MONDO:0035684 Orphanet:79401 Orphanet:595346 obsolete epidermolysis bullosa simplex without extracutaneous involvement +MONDO:0007556 epidermolysis bullosa simplex 2F, with mottled pigmentation MONDO:0035684 Orphanet:79397 Orphanet:595346 obsolete epidermolysis bullosa simplex without extracutaneous involvement +MONDO:0007562 multiple epiphyseal dysplasia, Beighton type MONDO:0020225 Orphanet:166011 Orphanet:98641 obsolete syndromic cataract +MONDO:0007564 pilomatrixoma MONDO:0019300 Orphanet:91414 Orphanet:79386 obsolete rare skin tumor or hamartoma +MONDO:0007565 familial cylindromatosis MONDO:8000031 Orphanet:211 Orphanet:557494 obsolete subtype of a disorder +MONDO:0007566 multiple self-healing squamous epithelioma MONDO:0015950 Orphanet:65748 Orphanet:183487 obsolete inherited skin tumor +MONDO:0007566 multiple self-healing squamous epithelioma MONDO:0019300 Orphanet:65748 Orphanet:79386 obsolete rare skin tumor or hamartoma +MONDO:0007570 erythema palmare hereditarium MONDO:0019299 Orphanet:231031 Orphanet:79385 obsolete unclassified genetic skin disorder +MONDO:0007571 primary erythermalgia MONDO:0015365 Orphanet:90026 Orphanet:140474 obsolete autosomal dominant hereditary sensory and autonomic neuropathy +MONDO:0007572 primary familial polycythemia due to EPO receptor mutation MONDO:0027929 Orphanet:90042 Orphanet:250165 obsolete genetic polycythemia +MONDO:0007574 spinocerebellar ataxia type 34 MONDO:0026150 Orphanet:1955 Orphanet:183438 obsolete genetic erythrokeratoderma +MONDO:0007584 exostoses-anetodermia-brachydactyly type E syndrome MONDO:0800089 Orphanet:1962 Orphanet:93450 obsolete primary bone dysplasia with disorganized development of skeletal components +MONDO:0007584 exostoses-anetodermia-brachydactyly type E syndrome MONDO:8000032 Orphanet:1962 Orphanet:377789 obsolete malformation syndrome +MONDO:0007587 external auditory canal atresia-vertical talus-hypertelorism syndrome MONDO:0015502 Orphanet:3023 Orphanet:156243 obsolete pinnae and external auditory canal anomaly +MONDO:0007587 external auditory canal atresia-vertical talus-hypertelorism syndrome MONDO:0018235 Orphanet:3023 Orphanet:364568 obsolete dysostosis with limb anomaly as a major feature +MONDO:0007587 external auditory canal atresia-vertical talus-hypertelorism syndrome MONDO:0018455 Orphanet:3023 Orphanet:404571 obsolete dysostosis of genetic origin with limb anomaly as a major feature +MONDO:0007587 external auditory canal atresia-vertical talus-hypertelorism syndrome MONDO:0043008 Orphanet:3023 Orphanet:330206 obsolete genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability +MONDO:0007587 external auditory canal atresia-vertical talus-hypertelorism syndrome MONDO:8000032 Orphanet:3023 Orphanet:377789 obsolete malformation syndrome +MONDO:0007588 extrasystoles-short stature-hyperpigmentation-microcephaly syndrome MONDO:0015329 Orphanet:1964 Orphanet:139021 obsolete malformation syndrome with short stature +MONDO:0007588 extrasystoles-short stature-hyperpigmentation-microcephaly syndrome MONDO:0026187 Orphanet:1964 Orphanet:183570 obsolete genetic malformation syndrome with short stature +MONDO:0007588 extrasystoles-short stature-hyperpigmentation-microcephaly syndrome MONDO:0035863 Orphanet:1964 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0007588 extrasystoles-short stature-hyperpigmentation-microcephaly syndrome MONDO:8000032 Orphanet:1964 Orphanet:377789 obsolete malformation syndrome +MONDO:0007590 hemifacial hypertrophy MONDO:8000032 Orphanet:141145 Orphanet:377789 obsolete malformation syndrome +MONDO:0007603 Felty syndrome MONDO:0015822 Orphanet:47612 Orphanet:178996 obsolete acquired neutropenia +MONDO:0007603 Felty syndrome MONDO:0015940 Orphanet:47612 Orphanet:182231 obsolete rare rheumatologic disease +MONDO:0007604 femoral-facial syndrome MONDO:0015335 Orphanet:1988 Orphanet:139039 obsolete Mendelian syndromes with cleft lip/palate +MONDO:0007604 femoral-facial syndrome MONDO:0017432 Orphanet:1988 Orphanet:294955 obsolete syndrome with limb reduction defects +MONDO:0007604 femoral-facial syndrome MONDO:0043008 Orphanet:1988 Orphanet:330206 obsolete genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability +MONDO:0007604 femoral-facial syndrome MONDO:8000032 Orphanet:1988 Orphanet:377789 obsolete malformation syndrome +MONDO:0007606 fibrodysplasia ossificans progressiva MONDO:0015949 Orphanet:337 Orphanet:183484 obsolete rare genetic subcutaneous tissue disorder +MONDO:0007606 fibrodysplasia ossificans progressiva MONDO:0018231 Orphanet:337 Orphanet:364531 obsolete primary bone dysplasia with progressive ossification of skin, skeletal muscle, fascia, tendons and ligaments +MONDO:0007606 fibrodysplasia ossificans progressiva MONDO:0035863 Orphanet:337 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0007606 fibrodysplasia ossificans progressiva MONDO:0800089 Orphanet:337 Orphanet:93450 obsolete primary bone dysplasia with disorganized development of skeletal components +MONDO:0007608 desmoid tumor MONDO:0019099 Orphanet:873 Orphanet:71209 obsolete rare soft tissue tumor +MONDO:0007610 gingival fibromatosis-hypertrichosis syndrome MONDO:0015336 Orphanet:2026 Orphanet:139042 obsolete malformation syndrome with odontal and/or periodontal component +MONDO:0007610 gingival fibromatosis-hypertrichosis syndrome MONDO:0026190 Orphanet:2026 Orphanet:183580 obsolete genetic malformation syndrome with odontal and/or periodontal component +MONDO:0007610 gingival fibromatosis-hypertrichosis syndrome MONDO:8000032 Orphanet:2026 Orphanet:377789 obsolete malformation syndrome +MONDO:0007612 gingival fibromatosis-progressive deafness syndrome MONDO:0015336 Orphanet:2027 Orphanet:139042 obsolete malformation syndrome with odontal and/or periodontal component +MONDO:0007612 gingival fibromatosis-progressive deafness syndrome MONDO:0019589 Orphanet:2027 Orphanet:90642 obsolete syndromic genetic hearing loss +MONDO:0007612 gingival fibromatosis-progressive deafness syndrome MONDO:0026190 Orphanet:2027 Orphanet:183580 obsolete genetic malformation syndrome with odontal and/or periodontal component +MONDO:0007612 gingival fibromatosis-progressive deafness syndrome MONDO:8000032 Orphanet:2027 Orphanet:377789 obsolete malformation syndrome +MONDO:0007614 congenital fibrosis of extraocular muscles MONDO:0020169 Orphanet:45358 Orphanet:98578 obsolete rare disorder with ptosis +MONDO:0007614 congenital fibrosis of extraocular muscles MONDO:0020253 Orphanet:45358 Orphanet:98683 obsolete syndrome with a symptomatic strabismus +MONDO:0007615 laurin-Sandrow syndrome MONDO:0017434 Orphanet:2378 Orphanet:294959 obsolete syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy +MONDO:0007615 laurin-Sandrow syndrome MONDO:8000032 Orphanet:2378 Orphanet:377789 obsolete malformation syndrome +MONDO:0007618 Eng-Strom syndrome MONDO:0015329 Orphanet:1937 Orphanet:139021 obsolete malformation syndrome with short stature +MONDO:0007618 Eng-Strom syndrome MONDO:0026187 Orphanet:1937 Orphanet:183570 obsolete genetic malformation syndrome with short stature +MONDO:0007618 Eng-Strom syndrome MONDO:8000032 Orphanet:1937 Orphanet:377789 obsolete malformation syndrome +MONDO:0007619 isolated congenital adermatoglyphia MONDO:0015331 Orphanet:289465 Orphanet:139027 obsolete malformation syndrome with skin/mucosae involvement +MONDO:0007620 fish eye disease MONDO:8000031 Orphanet:79292 Orphanet:557494 obsolete subtype of a disorder +MONDO:0007621 Floating-Harbor syndrome MONDO:0015329 Orphanet:2044 Orphanet:139021 obsolete malformation syndrome with short stature +MONDO:0007621 Floating-Harbor syndrome MONDO:0026187 Orphanet:2044 Orphanet:183570 obsolete genetic malformation syndrome with short stature +MONDO:0007621 Floating-Harbor syndrome MONDO:0035863 Orphanet:2044 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0007621 Floating-Harbor syndrome MONDO:8000032 Orphanet:2044 Orphanet:377789 obsolete malformation syndrome +MONDO:0007624 Flynn-Aird syndrome MONDO:0019117 Orphanet:2047 Orphanet:71859 obsolete genetic nervous system disorder +MONDO:0007624 Flynn-Aird syndrome MONDO:0020009 Orphanet:2047 Orphanet:98006 obsolete rare neurologic disease +MONDO:0007624 Flynn-Aird syndrome MONDO:0020225 Orphanet:2047 Orphanet:98641 obsolete syndromic cataract +MONDO:0007627 focal facial dermal dysplasia type I MONDO:8000031 Orphanet:79133 Orphanet:557494 obsolete subtype of a disorder +MONDO:0007635 Frasier syndrome MONDO:0015945 Orphanet:347 Orphanet:183422 obsolete polymalformative genetic syndrome with increased risk of developing cancer +MONDO:0007635 Frasier syndrome MONDO:0017978 Orphanet:347 Orphanet:325638 obsolete syndrome with disorder of sex development of gynecological interest +MONDO:0007635 Frasier syndrome MONDO:0020042 Orphanet:347 Orphanet:98087 obsolete syndrome with 46,XY disorder of sex development +MONDO:0007636 frontorhiny MONDO:0015412 Orphanet:391474 Orphanet:141234 obsolete median facial cleft +MONDO:0007636 frontorhiny MONDO:0033056 Orphanet:391474 Orphanet:414726 obsolete genetic facial cleft +MONDO:0007636 frontorhiny MONDO:8000032 Orphanet:391474 Orphanet:377789 obsolete malformation syndrome +MONDO:0007642 isolated agenesis of gallbladder MONDO:0015116 Orphanet:440987 Orphanet:101941 obsolete rare biliary tract disease +MONDO:0007642 isolated agenesis of gallbladder MONDO:8000030 Orphanet:440987 Orphanet:377791 obsolete morphological anomaly +MONDO:0007646 Gamstorp-Wohlfart syndrome MONDO:0019601 Orphanet:324442 Orphanet:91024 obsolete autosomal recessive axonal hereditary motor and sensory neuropathy +MONDO:0007648 hereditary diffuse gastric adenocarcinoma MONDO:0015617 Orphanet:26106 Orphanet:165658 obsolete hereditary gastro-esophageal disease +MONDO:0007648 hereditary diffuse gastric adenocarcinoma MONDO:0017128 Orphanet:26106 Orphanet:271835 obsolete inherited digestive tract tumor +MONDO:0007651 gastrocutaneous syndrome MONDO:0015111 Orphanet:2069 Orphanet:101936 obsolete gastroesophageal disease +MONDO:0007651 gastrocutaneous syndrome MONDO:0015617 Orphanet:2069 Orphanet:165658 obsolete hereditary gastro-esophageal disease +MONDO:0007652 gastric mucosal hypertrophy MONDO:0015111 Orphanet:2494 Orphanet:101936 obsolete gastroesophageal disease +MONDO:0007656 Gerstmann-Straussler-Scheinker syndrome MONDO:0017234 Orphanet:356 Orphanet:280400 obsolete inherited prion disease +MONDO:0007660 familial ossifying fibroma MONDO:0015959 Orphanet:435329 Orphanet:183527 obsolete inherited syndrome with bone tumors as a major feature +MONDO:0007666 glaucoma-sleep apnea syndrome MONDO:0019045 Orphanet:2085 Orphanet:68354 obsolete rare sleep disorder +MONDO:0007666 glaucoma-sleep apnea syndrome MONDO:0020222 Orphanet:2085 Orphanet:98638 obsolete rare disease with glaucoma as a major feature +MONDO:0007669 renal cysts and diabetes syndrome MONDO:0015887 Orphanet:93111 Orphanet:181376 obsolete rare diabetes mellitus type 2 +MONDO:0007669 renal cysts and diabetes syndrome MONDO:0019721 Orphanet:93111 Orphanet:93547 obsolete syndromic renal or urinary tract malformation +MONDO:0007669 renal cysts and diabetes syndrome MONDO:8000031 Orphanet:93111 Orphanet:557494 obsolete subtype of a disorder +MONDO:0007670 hypotrichosis-lymphedema-telangiectasia syndrome (grouping) MONDO:0035470 Orphanet:69735 Orphanet:568044 obsolete primary lymphedema with systemic or visceral involvement +MONDO:0007672 glomuvenous malformation MONDO:0015145 Orphanet:83454 Orphanet:102006 obsolete neurovascular malformation +MONDO:0007672 glomuvenous malformation MONDO:0016232 Orphanet:83454 Orphanet:211252 obsolete rare venous malformation +MONDO:0007672 glomuvenous malformation MONDO:0018730 Orphanet:83454 Orphanet:459548 obsolete rare genetic venous malformation +MONDO:0007672 glomuvenous malformation MONDO:0031949 Orphanet:83454 Orphanet:371436 obsolete genetic neurovascular malformation +MONDO:0007672 glomuvenous malformation MONDO:8000032 Orphanet:83454 Orphanet:377789 obsolete malformation syndrome +MONDO:0007679 GMS syndrome MONDO:0035863 Orphanet:2090 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0007679 GMS syndrome MONDO:8000032 Orphanet:2090 Orphanet:377789 obsolete malformation syndrome +MONDO:0007680 multinodular goiter-cystic kidney-polydactyly syndrome MONDO:0043008 Orphanet:2091 Orphanet:330206 obsolete genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability +MONDO:0007680 multinodular goiter-cystic kidney-polydactyly syndrome MONDO:8000032 Orphanet:2091 Orphanet:377789 obsolete malformation syndrome +MONDO:0007681 goiter, multinodular 1, with or without Sertoli-Leydig cell tumors MONDO:0015125 Orphanet:276399 Orphanet:101955 obsolete rare thyroid disease +MONDO:0007681 goiter, multinodular 1, with or without Sertoli-Leydig cell tumors MONDO:0015969 Orphanet:276399 Orphanet:183631 obsolete rare genetic thyroid disease +MONDO:0007683 Grant syndrome MONDO:0019704 Orphanet:2097 Orphanet:93446 obsolete primary bone dysplasia with decreased bone density +MONDO:0007683 Grant syndrome MONDO:8000032 Orphanet:2097 Orphanet:377789 obsolete malformation syndrome +MONDO:0007688 Myhre syndrome MONDO:0035863 Orphanet:2588 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0007688 Myhre syndrome MONDO:8000032 Orphanet:2588 Orphanet:377789 obsolete malformation syndrome +MONDO:0007690 aromatase excess syndrome MONDO:0033331 Orphanet:178345 Orphanet:435564 obsolete genetic precocious puberty in female +MONDO:0007693 hypertrichosis cubiti-short stature syndrome MONDO:8000032 Orphanet:2220 Orphanet:377789 obsolete malformation syndrome +MONDO:0007696 Emery-Nelson syndrome MONDO:0015226 Orphanet:1927 Orphanet:109009 obsolete syndrome with limb malformations as a major feature +MONDO:0007696 Emery-Nelson syndrome MONDO:8000032 Orphanet:1927 Orphanet:377789 obsolete malformation syndrome +MONDO:0007698 hand-foot-genital syndrome MONDO:0015846 Orphanet:2438 Orphanet:180148 obsolete syndromic uterovaginal malformation +MONDO:0007698 hand-foot-genital syndrome MONDO:0043008 Orphanet:2438 Orphanet:330206 obsolete genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability +MONDO:0007698 hand-foot-genital syndrome MONDO:0800094 Orphanet:2438 Orphanet:498454 obsolete dysostosis with brachydactyly with extraskeletal manifestations +MONDO:0007698 hand-foot-genital syndrome MONDO:8000032 Orphanet:2438 Orphanet:377789 obsolete malformation syndrome +MONDO:0007702 heart-hand syndrome type 3 MONDO:0015110 Orphanet:1342 Orphanet:101934 obsolete genetic cardiac rhythm disease +MONDO:0007702 heart-hand syndrome type 3 MONDO:0043008 Orphanet:1342 Orphanet:330206 obsolete genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability +MONDO:0007702 heart-hand syndrome type 3 MONDO:8000032 Orphanet:1342 Orphanet:377789 obsolete malformation syndrome +MONDO:0007708 Kasabach-Merritt syndrome MONDO:0016631 Orphanet:2330 Orphanet:248347 obsolete hemorrhagic disorder due to an acquired platelet anomaly +MONDO:0007708 Kasabach-Merritt syndrome MONDO:0032014 Orphanet:2330 Orphanet:377793 obsolete particular clinical situation in a disease or syndrome +MONDO:0007710 facial hemiatrophy MONDO:0015144 Orphanet:1214 Orphanet:102005 obsolete brain inflammatory disease +MONDO:0007710 facial hemiatrophy MONDO:0015657 Orphanet:1214 Orphanet:166484 obsolete inflammatory and autoimmune disease with epilepsy +MONDO:0007711 Bencze syndrome MONDO:0015335 Orphanet:1241 Orphanet:139039 obsolete Mendelian syndromes with cleft lip/palate +MONDO:0007711 Bencze syndrome MONDO:0043008 Orphanet:1241 Orphanet:330206 obsolete genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability +MONDO:0007711 Bencze syndrome MONDO:8000032 Orphanet:1241 Orphanet:377789 obsolete malformation syndrome +MONDO:0007712 oculoauriculovertebral spectrum with radial defects MONDO:0015334 Orphanet:2549 Orphanet:139036 obsolete branchial arch or oral-acral syndrome +MONDO:0007712 oculoauriculovertebral spectrum with radial defects MONDO:0026189 Orphanet:2549 Orphanet:183576 obsolete genetic branchial arch or oral-acral syndrome +MONDO:0007712 oculoauriculovertebral spectrum with radial defects MONDO:0043008 Orphanet:2549 Orphanet:330206 obsolete genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability +MONDO:0007712 oculoauriculovertebral spectrum with radial defects MONDO:0800085 Orphanet:2549 Orphanet:93453 obsolete dysostosis with predominant craniofacial involvement +MONDO:0007712 oculoauriculovertebral spectrum with radial defects MONDO:8000032 Orphanet:2549 Orphanet:377789 obsolete malformation syndrome +MONDO:0007713 clonic hemifacial spasm MONDO:0017651 Orphanet:221083 Orphanet:306750 obsolete primary myoclonus +MONDO:0007716 alpha thalassemia-intellectual disability syndrome type 1 MONDO:0016513 Orphanet:98791 Orphanet:232288 obsolete alpha-thalassemia-related diseases +MONDO:0007716 alpha thalassemia-intellectual disability syndrome type 1 MONDO:0035862 Orphanet:98791 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome +MONDO:0007716 alpha thalassemia-intellectual disability syndrome type 1 MONDO:8000032 Orphanet:98791 Orphanet:377789 obsolete malformation syndrome +MONDO:0007726 hip dysplasia, Beukes type MONDO:0019692 Orphanet:2114 Orphanet:93429 obsolete multiple epiphyseal dysplasia and pseudoachondroplasia +MONDO:0007727 autosomal dominant familial periodic fever MONDO:0017369 Orphanet:32960 Orphanet:290839 obsolete autoinflammatory syndrome with immune deficiency +MONDO:0007727 autosomal dominant familial periodic fever MONDO:0017370 Orphanet:32960 Orphanet:290842 obsolete autoinflammatory syndrome with skin involvement +MONDO:0007732 Holt-Oram syndrome MONDO:0015110 Orphanet:392 Orphanet:101934 obsolete genetic cardiac rhythm disease +MONDO:0007732 Holt-Oram syndrome MONDO:0015506 Orphanet:392 Orphanet:156532 obsolete rare syndrome with cardiac malformations +MONDO:0007732 Holt-Oram syndrome MONDO:0017432 Orphanet:392 Orphanet:294955 obsolete syndrome with limb reduction defects +MONDO:0007732 Holt-Oram syndrome MONDO:0043008 Orphanet:392 Orphanet:330206 obsolete genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability +MONDO:0007732 Holt-Oram syndrome MONDO:8000032 Orphanet:392 Orphanet:377789 obsolete malformation syndrome +MONDO:0007735 congenital Horner syndrome MONDO:0020169 Orphanet:91413 Orphanet:98578 obsolete rare disorder with ptosis +MONDO:0007737 humeroradial synostosis MONDO:0017429 Orphanet:3265 Orphanet:294949 obsolete joint formation defects +MONDO:0007737 humeroradial synostosis MONDO:8000030 Orphanet:3265 Orphanet:377791 obsolete morphological anomaly +MONDO:0007738 spondyloepiphyseal dysplasia with congenital joint dislocations MONDO:0017742 Orphanet:263463 Orphanet:309450 obsolete disorder of O-xylosylglycan synthesis +MONDO:0007738 spondyloepiphyseal dysplasia with congenital joint dislocations MONDO:0018292 Orphanet:263463 Orphanet:371195 obsolete congenital disorder of glycosylation-related bone disorder +MONDO:0007738 spondyloepiphyseal dysplasia with congenital joint dislocations MONDO:0800086 Orphanet:263463 Orphanet:93441 obsolete primary bone dysplasia with multiple joint dislocations +MONDO:0007739 Huntington disease MONDO:0017646 Orphanet:399 Orphanet:306719 obsolete neurodegenerative disease with chorea +MONDO:0007739 Huntington disease MONDO:0020136 Orphanet:399 Orphanet:98534 obsolete neurodegenerative disease with dementia +MONDO:0007739 Huntington disease MONDO:0021037 Orphanet:399 Orphanet:276058 obsolete genetic neurodegenerative disease with dementia +MONDO:0007740 Wagner disease MONDO:0034943 Orphanet:898 Orphanet:519304 obsolete isolated vitreoretinopathy +MONDO:0007747 isolated hyperchlorhidrosis MONDO:0019277 Orphanet:542657 Orphanet:79362 obsolete epidermal appendage anomaly +MONDO:0007756 hyperkeratosis lenticularis perstans MONDO:0019274 Orphanet:409 Orphanet:79359 obsolete other epidermal disorder +MONDO:0007756 hyperkeratosis lenticularis perstans MONDO:0019275 Orphanet:409 Orphanet:79360 obsolete other genetic epidermal disease +MONDO:0007757 hyperkeratosis-hyperpigmentation syndrome MONDO:0017679 Orphanet:1336 Orphanet:308031 obsolete obsolete autosomal dominant disease associated with punctate palmoplantar keratoderma as a major feature +MONDO:0007758 epidermolytic palmoplantar keratoderma MONDO:0020093 Orphanet:2199 Orphanet:98349 obsolete autosomal dominant isolated diffuse palmoplantar keratoderma +MONDO:0007762 hyperlipoproteinemia type V MONDO:8000031 Orphanet:530849 Orphanet:557494 obsolete subtype of a disorder +MONDO:0007764 autosomal dominant osteosclerosis, Worth type MONDO:0800084 Orphanet:2790 Orphanet:93444 obsolete primary bone dysplasia with increased bone density +MONDO:0007764 autosomal dominant osteosclerosis, Worth type MONDO:8000032 Orphanet:2790 Orphanet:377789 obsolete malformation syndrome +MONDO:0007765 hyperostosis cranialis interna MONDO:0019589 Orphanet:443098 Orphanet:90642 obsolete syndromic genetic hearing loss +MONDO:0007765 hyperostosis cranialis interna MONDO:0800084 Orphanet:443098 Orphanet:93444 obsolete primary bone dysplasia with increased bone density +MONDO:0007766 Morgagni-Stewart-Morel syndrome MONDO:0020018 Orphanet:77296 Orphanet:98038 obsolete cranial malformation +MONDO:0007766 Morgagni-Stewart-Morel syndrome MONDO:0026182 Orphanet:77296 Orphanet:183542 obsolete genetic cranial malformation +MONDO:0007766 Morgagni-Stewart-Morel syndrome MONDO:8000032 Orphanet:77296 Orphanet:377789 obsolete malformation syndrome +MONDO:0007768 hyperparathyroidism 2 with jaw tumors MONDO:0017891 Orphanet:99880 Orphanet:319328 obsolete inherited renal cancer-predisposing syndrome +MONDO:0007772 pseudohypoaldosteronism type 2A MONDO:8000031 Orphanet:88938 Orphanet:557494 obsolete subtype of a disorder +MONDO:0007787 Ambras type hypertrichosis universalis congenita MONDO:8000031 Orphanet:1023 Orphanet:557494 obsolete subtype of a disorder +MONDO:0007790 Charcot-Marie-Tooth disease type 3 MONDO:0015359 Orphanet:64748 Orphanet:140453 obsolete autosomal dominant hereditary demyelinating motor and sensory neuropathy +MONDO:0007790 Charcot-Marie-Tooth disease type 3 MONDO:0015361 Orphanet:64748 Orphanet:140459 obsolete autosomal recessive hereditary demyelinating motor and sensory neuropathy +MONDO:0007791 familial hypocalciuric hypercalcemia 1 MONDO:8000031 Orphanet:93372 Orphanet:557494 obsolete subtype of a disorder +MONDO:0007792 familial hypocalciuric hypercalcemia 2 MONDO:8000031 Orphanet:101049 Orphanet:557494 obsolete subtype of a disorder +MONDO:0007793 hypochondroplasia MONDO:0018232 Orphanet:429 Orphanet:364536 obsolete primary bone dysplasia with micromelia +MONDO:0007795 mullerian duct anomalies-limb anomalies syndrome MONDO:0015620 Orphanet:2491 Orphanet:165707 obsolete syndromic urogenital tract malformation +MONDO:0007795 mullerian duct anomalies-limb anomalies syndrome MONDO:0015846 Orphanet:2491 Orphanet:180148 obsolete syndromic uterovaginal malformation +MONDO:0007795 mullerian duct anomalies-limb anomalies syndrome MONDO:0043008 Orphanet:2491 Orphanet:330206 obsolete genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability +MONDO:0007795 mullerian duct anomalies-limb anomalies syndrome MONDO:8000032 Orphanet:2491 Orphanet:377789 obsolete malformation syndrome +MONDO:0007797 hypoparathyroidism-deafness-renal disease syndrome MONDO:0015895 Orphanet:2237 Orphanet:181402 obsolete syndrome with hypoparathyroidism +MONDO:0007797 hypoparathyroidism-deafness-renal disease syndrome MONDO:0019589 Orphanet:2237 Orphanet:90642 obsolete syndromic genetic hearing loss +MONDO:0007797 hypoparathyroidism-deafness-renal disease syndrome MONDO:0019721 Orphanet:2237 Orphanet:93547 obsolete syndromic renal or urinary tract malformation +MONDO:0007797 hypoparathyroidism-deafness-renal disease syndrome MONDO:8000032 Orphanet:2237 Orphanet:377789 obsolete malformation syndrome +MONDO:0007798 obsolete adult hypophosphatasia MONDO:0018570 Orphanet:247676 Orphanet:436 hypophosphatasia +MONDO:0007798 obsolete adult hypophosphatasia MONDO:0020014 Orphanet:247676 Orphanet:98027 obsolete rare disease with odontological manifestation +MONDO:0007798 obsolete adult hypophosphatasia MONDO:8000031 Orphanet:247676 Orphanet:557494 obsolete subtype of a disorder +MONDO:0007800 chromosome 18p deletion syndrome MONDO:0020226 Orphanet:1598 Orphanet:98642 obsolete chromosomal anomaly with cataract +MONDO:0007803 multiple system atrophy MONDO:0015918 Orphanet:102 Orphanet:182070 obsolete rare neurodegenerative disease +MONDO:0007803 multiple system atrophy MONDO:0017641 Orphanet:102 Orphanet:306695 obsolete miscellaneous movement disorder due to neurodegenerative disease +MONDO:0007804 Pallister-Hall syndrome MONDO:0015246 Orphanet:672 Orphanet:117573 obsolete syndromic anorectal malformation +MONDO:0007804 Pallister-Hall syndrome MONDO:0017434 Orphanet:672 Orphanet:294959 obsolete syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy +MONDO:0007804 Pallister-Hall syndrome MONDO:0019721 Orphanet:672 Orphanet:93547 obsolete syndromic renal or urinary tract malformation +MONDO:0007804 Pallister-Hall syndrome MONDO:0019827 Orphanet:672 Orphanet:95495 obsolete disease associated with non-acquired combined pituitary hormone deficiency +MONDO:0007804 Pallister-Hall syndrome MONDO:0022409 Orphanet:672 Orphanet:156162 obsolete nephropathy-associated ciliopathy +MONDO:0007804 Pallister-Hall syndrome MONDO:0035863 Orphanet:672 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0007804 Pallister-Hall syndrome MONDO:8000032 Orphanet:672 Orphanet:377789 obsolete malformation syndrome +MONDO:0007818 hyper-IgE recurrent infection syndrome 1, autosomal dominant MONDO:0019305 Orphanet:2314 Orphanet:79391 obsolete immune deficiency with skin involvement +MONDO:0007818 hyper-IgE recurrent infection syndrome 1, autosomal dominant MONDO:0026166 Orphanet:2314 Orphanet:183494 obsolete genetic immune deficiency with skin involvement +MONDO:0007820 fused mandibular incisors MONDO:0015603 Orphanet:2287 Orphanet:164001 obsolete rare odontal or periodontal disorder +MONDO:0007820 fused mandibular incisors MONDO:0018488 Orphanet:2287 Orphanet:420755 obsolete rare genetic odontal or periodontal disorder +MONDO:0007820 fused mandibular incisors MONDO:8000030 Orphanet:2287 Orphanet:377791 obsolete morphological anomaly +MONDO:0007836 IVIC syndrome MONDO:0017432 Orphanet:2307 Orphanet:294955 obsolete syndrome with limb reduction defects +MONDO:0007836 IVIC syndrome MONDO:0020253 Orphanet:2307 Orphanet:98683 obsolete syndrome with a symptomatic strabismus +MONDO:0007836 IVIC syndrome MONDO:8000032 Orphanet:2307 Orphanet:377789 obsolete malformation syndrome +MONDO:0007837 Johnson neuroectodermal syndrome MONDO:0035863 Orphanet:2316 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0007837 Johnson neuroectodermal syndrome MONDO:8000032 Orphanet:2316 Orphanet:377789 obsolete malformation syndrome +MONDO:0007838 Jacobsen syndrome MONDO:0020169 Orphanet:2308 Orphanet:98578 obsolete rare disorder with ptosis +MONDO:0007838 Jacobsen syndrome MONDO:8000032 Orphanet:2308 Orphanet:377789 obsolete malformation syndrome +MONDO:0007839 Aase-Smith syndrome MONDO:0015335 Orphanet:916 Orphanet:139039 obsolete Mendelian syndromes with cleft lip/palate +MONDO:0007839 Aase-Smith syndrome MONDO:0017121 Orphanet:916 Orphanet:269546 obsolete syndrome with a Dandy-Walker malformation as major feature +MONDO:0007839 Aase-Smith syndrome MONDO:0043008 Orphanet:916 Orphanet:330206 obsolete genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability +MONDO:0007839 Aase-Smith syndrome MONDO:8000032 Orphanet:916 Orphanet:377789 obsolete malformation syndrome +MONDO:0007841 coxopodopatellar syndrome MONDO:0019712 Orphanet:1509 Orphanet:93455 obsolete patellar dysostosis +MONDO:0007842 joint laxity, familial MONDO:0015331 Orphanet:2295 Orphanet:139027 obsolete malformation syndrome with skin/mucosae involvement +MONDO:0007842 joint laxity, familial MONDO:0015332 Orphanet:2295 Orphanet:139030 obsolete rare developmental defect with connective tissue involvement +MONDO:0007842 joint laxity, familial MONDO:0028795 Orphanet:2295 Orphanet:271870 obsolete rare genetic systemic or rheumatologic disease +MONDO:0007846 KBG syndrome MONDO:0015329 Orphanet:2332 Orphanet:139021 obsolete malformation syndrome with short stature +MONDO:0007846 KBG syndrome MONDO:0015336 Orphanet:2332 Orphanet:139042 obsolete malformation syndrome with odontal and/or periodontal component +MONDO:0007846 KBG syndrome MONDO:0026190 Orphanet:2332 Orphanet:183580 obsolete genetic malformation syndrome with odontal and/or periodontal component +MONDO:0007846 KBG syndrome MONDO:0035863 Orphanet:2332 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0007846 KBG syndrome MONDO:8000032 Orphanet:2332 Orphanet:377789 obsolete malformation syndrome +MONDO:0007852 palmoplantar keratoderma-deafness syndrome MONDO:0019589 Orphanet:2202 Orphanet:90642 obsolete syndromic genetic hearing loss +MONDO:0007852 palmoplantar keratoderma-deafness syndrome MONDO:0020094 Orphanet:2202 Orphanet:98352 obsolete autosomal dominant disease with diffuse palmoplantar keratoderma as a major feature +MONDO:0007853 palmoplantar keratoderma-hereditary motor and sensory neuropathy syndrome MONDO:0015360 Orphanet:538574 Orphanet:140456 obsolete autosomal dominant hereditary axonal motor and sensory neuropathy +MONDO:0007853 palmoplantar keratoderma-hereditary motor and sensory neuropathy syndrome MONDO:0020094 Orphanet:538574 Orphanet:98352 obsolete autosomal dominant disease with diffuse palmoplantar keratoderma as a major feature +MONDO:0007854 keratolytic winter erythema MONDO:0019274 Orphanet:50943 Orphanet:79359 obsolete other epidermal disorder +MONDO:0007854 keratolytic winter erythema MONDO:0019275 Orphanet:50943 Orphanet:79360 obsolete other genetic epidermal disease +MONDO:0007856 palmoplantar keratoderma-esophageal carcinoma syndrome MONDO:0015111 Orphanet:2198 Orphanet:101936 obsolete gastroesophageal disease +MONDO:0007856 palmoplantar keratoderma-esophageal carcinoma syndrome MONDO:0015617 Orphanet:2198 Orphanet:165658 obsolete hereditary gastro-esophageal disease +MONDO:0007856 palmoplantar keratoderma-esophageal carcinoma syndrome MONDO:0020095 Orphanet:2198 Orphanet:98353 obsolete autosomal dominant disease associated with focal palmoplantar keratoderma as a major feature +MONDO:0007857 keratosis palmaris et plantaris-clinodactyly syndrome MONDO:0020094 Orphanet:86919 Orphanet:98352 obsolete autosomal dominant disease with diffuse palmoplantar keratoderma as a major feature +MONDO:0007860 focal palmoplantar and gingival keratoderma MONDO:0020095 Orphanet:2200 Orphanet:98353 obsolete autosomal dominant disease associated with focal palmoplantar keratoderma as a major feature +MONDO:0007862 Waardenburg syndrome type 3 MONDO:8000031 Orphanet:896 Orphanet:557494 obsolete subtype of a disorder +MONDO:0007863 Kleine-Levin syndrome MONDO:0019045 Orphanet:33543 Orphanet:68354 obsolete rare sleep disorder +MONDO:0007864 angioosteohypertrophic syndrome MONDO:0015948 Orphanet:2346 Orphanet:183478 obsolete rare genetic skin vascular disorder +MONDO:0007864 angioosteohypertrophic syndrome MONDO:0016235 Orphanet:2346 Orphanet:211277 obsolete complex vascular malformation with associated anomalies +MONDO:0007864 angioosteohypertrophic syndrome MONDO:0016524 Orphanet:2346 Orphanet:235832 obsolete congenital vascular bone syndrome +MONDO:0007864 angioosteohypertrophic syndrome MONDO:0020063 Orphanet:2346 Orphanet:98196 obsolete malformation syndrome with hamartosis +MONDO:0007864 angioosteohypertrophic syndrome MONDO:0033927 Orphanet:2346 Orphanet:459537 obsolete genetic complex vascular malformation with associated anomalies +MONDO:0007866 Bart-Pumphrey syndrome MONDO:0019589 Orphanet:2698 Orphanet:90642 obsolete syndromic genetic hearing loss +MONDO:0007866 Bart-Pumphrey syndrome MONDO:0020094 Orphanet:2698 Orphanet:98352 obsolete autosomal dominant disease with diffuse palmoplantar keratoderma as a major feature +MONDO:0007871 familial congenital nasolacrimal duct obstruction MONDO:0015503 Orphanet:451612 Orphanet:156246 obsolete nose and cavum anomaly +MONDO:0007871 familial congenital nasolacrimal duct obstruction MONDO:0020195 Orphanet:451612 Orphanet:98605 obsolete excretory apparatus of the lacrimal system anomaly +MONDO:0007871 familial congenital nasolacrimal duct obstruction MONDO:0033334 Orphanet:451612 Orphanet:435606 obsolete genetic nose and cavum anomaly +MONDO:0007871 familial congenital nasolacrimal duct obstruction MONDO:8000030 Orphanet:451612 Orphanet:377791 obsolete morphological anomaly +MONDO:0007872 LADD syndrome MONDO:0015336 Orphanet:2363 Orphanet:139042 obsolete malformation syndrome with odontal and/or periodontal component +MONDO:0007872 LADD syndrome MONDO:0015503 Orphanet:2363 Orphanet:156246 obsolete nose and cavum anomaly +MONDO:0007872 LADD syndrome MONDO:0017434 Orphanet:2363 Orphanet:294959 obsolete syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy +MONDO:0007872 LADD syndrome MONDO:0020197 Orphanet:2363 Orphanet:98609 obsolete EEC syndrome and related syndrome +MONDO:0007872 LADD syndrome MONDO:0026190 Orphanet:2363 Orphanet:183580 obsolete genetic malformation syndrome with odontal and/or periodontal component +MONDO:0007872 LADD syndrome MONDO:0033334 Orphanet:2363 Orphanet:435606 obsolete genetic nose and cavum anomaly +MONDO:0007872 LADD syndrome MONDO:0043008 Orphanet:2363 Orphanet:330206 obsolete genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability +MONDO:0007872 LADD syndrome MONDO:8000032 Orphanet:2363 Orphanet:377789 obsolete malformation syndrome +MONDO:0007874 trichorhinophalangeal syndrome type II MONDO:0035863 Orphanet:502 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0007874 trichorhinophalangeal syndrome type II MONDO:8000032 Orphanet:502 Orphanet:377789 obsolete malformation syndrome +MONDO:0007875 Larsen syndrome MONDO:0015332 Orphanet:503 Orphanet:139030 obsolete rare developmental defect with connective tissue involvement +MONDO:0007875 Larsen syndrome MONDO:0015335 Orphanet:503 Orphanet:139039 obsolete Mendelian syndromes with cleft lip/palate +MONDO:0007875 Larsen syndrome MONDO:0800086 Orphanet:503 Orphanet:93441 obsolete primary bone dysplasia with multiple joint dislocations +MONDO:0007875 Larsen syndrome MONDO:8000032 Orphanet:503 Orphanet:377789 obsolete malformation syndrome +MONDO:0007876 laryngeal abductor paralysis MONDO:0015504 Orphanet:2808 Orphanet:156249 obsolete larynx anomaly +MONDO:0007876 laryngeal abductor paralysis MONDO:0033335 Orphanet:2808 Orphanet:435609 obsolete genetic larynx anomaly +MONDO:0007876 laryngeal abductor paralysis MONDO:8000032 Orphanet:2808 Orphanet:377789 obsolete malformation syndrome +MONDO:0007878 congenital laryngomalacia MONDO:0015504 Orphanet:2373 Orphanet:156249 obsolete larynx anomaly +MONDO:0007878 congenital laryngomalacia MONDO:0033335 Orphanet:2373 Orphanet:435609 obsolete genetic larynx anomaly +MONDO:0007878 congenital laryngomalacia MONDO:8000032 Orphanet:2373 Orphanet:377789 obsolete malformation syndrome +MONDO:0007879 larynx atresia MONDO:0015504 Orphanet:1202 Orphanet:156249 obsolete larynx anomaly +MONDO:0007879 larynx atresia MONDO:0033335 Orphanet:1202 Orphanet:435609 obsolete genetic larynx anomaly +MONDO:0007879 larynx atresia MONDO:8000032 Orphanet:1202 Orphanet:377789 obsolete malformation syndrome +MONDO:0007880 congenital laryngeal web MONDO:0015504 Orphanet:2374 Orphanet:156249 obsolete larynx anomaly +MONDO:0007880 congenital laryngeal web MONDO:0033335 Orphanet:2374 Orphanet:435609 obsolete genetic larynx anomaly +MONDO:0007880 congenital laryngeal web MONDO:8000032 Orphanet:2374 Orphanet:377789 obsolete malformation syndrome +MONDO:0007888 hereditary leiomyomatosis and renal cell cancer MONDO:0015950 Orphanet:523 Orphanet:183487 obsolete inherited skin tumor +MONDO:0007888 hereditary leiomyomatosis and renal cell cancer MONDO:0017891 Orphanet:523 Orphanet:319328 obsolete inherited renal cancer-predisposing syndrome +MONDO:0007888 hereditary leiomyomatosis and renal cell cancer MONDO:0019300 Orphanet:523 Orphanet:79386 obsolete rare skin tumor or hamartoma +MONDO:0007888 hereditary leiomyomatosis and renal cell cancer MONDO:0035645 Orphanet:523 Orphanet:589746 obsolete inherited gynecological cancer-predisposing syndrome +MONDO:0007892 Lenz-Majewski hyperostotic dwarfism MONDO:0035863 Orphanet:2658 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0007892 Lenz-Majewski hyperostotic dwarfism MONDO:0800084 Orphanet:2658 Orphanet:93444 obsolete primary bone dysplasia with increased bone density +MONDO:0007892 Lenz-Majewski hyperostotic dwarfism MONDO:8000032 Orphanet:2658 Orphanet:377789 obsolete malformation syndrome +MONDO:0007893 Noonan syndrome with multiple lentigines MONDO:0015331 Orphanet:500 Orphanet:139027 obsolete malformation syndrome with skin/mucosae involvement +MONDO:0007893 Noonan syndrome with multiple lentigines MONDO:0015945 Orphanet:500 Orphanet:183422 obsolete polymalformative genetic syndrome with increased risk of developing cancer +MONDO:0007893 Noonan syndrome with multiple lentigines MONDO:0019589 Orphanet:500 Orphanet:90642 obsolete syndromic genetic hearing loss +MONDO:0007893 Noonan syndrome with multiple lentigines MONDO:0020063 Orphanet:500 Orphanet:98196 obsolete malformation syndrome with hamartosis +MONDO:0007893 Noonan syndrome with multiple lentigines MONDO:0026989 Orphanet:500 Orphanet:217595 obsolete syndrome associated with hypertrophic cardiomyopathy +MONDO:0007893 Noonan syndrome with multiple lentigines MONDO:0043008 Orphanet:500 Orphanet:330206 obsolete genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability +MONDO:0007893 Noonan syndrome with multiple lentigines MONDO:8000032 Orphanet:500 Orphanet:377789 obsolete malformation syndrome +MONDO:0007894 Leri pleonosteosis MONDO:0800095 Orphanet:2900 Orphanet:93459 obsolete syndrome with synostosis or other joint formation defect +MONDO:0007894 Leri pleonosteosis MONDO:8000032 Orphanet:2900 Orphanet:377789 obsolete malformation syndrome +MONDO:0007895 platyspondylic dysplasia, Torrance type MONDO:8000032 Orphanet:85166 Orphanet:377789 obsolete malformation syndrome +MONDO:0007904 median nodule of the upper lip MONDO:0043008 Orphanet:2699 Orphanet:330206 obsolete genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability +MONDO:0007904 median nodule of the upper lip MONDO:8000032 Orphanet:2699 Orphanet:377789 obsolete malformation syndrome +MONDO:0007906 familial partial lipodystrophy, Dunnigan type MONDO:0029812 Orphanet:2348 Orphanet:300763 obsolete laminopathy with lipodystrophy +MONDO:0007906 familial partial lipodystrophy, Dunnigan type MONDO:0031689 Orphanet:2348 Orphanet:363245 obsolete genetic progeroid syndrome +MONDO:0007908 multiple symmetric lipomatosis MONDO:0015949 Orphanet:2398 Orphanet:183484 obsolete rare genetic subcutaneous tissue disorder +MONDO:0007909 familial multiple lipomatosis MONDO:0015949 Orphanet:199276 Orphanet:183484 obsolete rare genetic subcutaneous tissue disorder +MONDO:0007915 systemic lupus erythematosus MONDO:0015939 Orphanet:536 Orphanet:182228 obsolete systemic autoimmune disease +MONDO:0007916 primary intestinal lymphangiectasia MONDO:0015616 Orphanet:90362 Orphanet:165655 obsolete rare genetic intestinal disease +MONDO:0007917 lymphedema-cerebral arteriovenous anomaly syndrome MONDO:0016235 Orphanet:86914 Orphanet:211277 obsolete complex vascular malformation with associated anomalies +MONDO:0007917 lymphedema-cerebral arteriovenous anomaly syndrome MONDO:8000032 Orphanet:86914 Orphanet:377789 obsolete malformation syndrome +MONDO:0007918 microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability MONDO:0017119 Orphanet:2526 Orphanet:269528 obsolete syndrome with microcephaly as major feature +MONDO:0007918 microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability MONDO:0034953 Orphanet:2526 Orphanet:519325 obsolete syndromic inherited retinal disorder +MONDO:0007918 microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability MONDO:0035862 Orphanet:2526 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome +MONDO:0007918 microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability MONDO:8000032 Orphanet:2526 Orphanet:377789 obsolete malformation syndrome +MONDO:0007921 yellow nail syndrome MONDO:0017017 Orphanet:662 Orphanet:264683 obsolete primary interstitial lung disease specific to childhood due to alveolar vascular disorder +MONDO:0007921 yellow nail syndrome MONDO:0019285 Orphanet:662 Orphanet:79370 obsolete syndromic nail anomaly +MONDO:0007921 yellow nail syndrome MONDO:0035470 Orphanet:662 Orphanet:568044 obsolete primary lymphedema with systemic or visceral involvement +MONDO:0007922 lymphedema-distichiasis syndrome MONDO:0020184 Orphanet:33001 Orphanet:98594 obsolete rare eyebrow/eyelashes anomaly +MONDO:0007922 lymphedema-distichiasis syndrome MONDO:0020225 Orphanet:33001 Orphanet:98641 obsolete syndromic cataract +MONDO:0007922 lymphedema-distichiasis syndrome MONDO:8000032 Orphanet:33001 Orphanet:377789 obsolete malformation syndrome +MONDO:0007924 Bannayan-Riley-Ruvalcaba syndrome MONDO:0016235 Orphanet:109 Orphanet:211277 obsolete complex vascular malformation with associated anomalies +MONDO:0007924 Bannayan-Riley-Ruvalcaba syndrome MONDO:0018188 Orphanet:109 Orphanet:363314 obsolete hereditary intestinal polyposis +MONDO:0007924 Bannayan-Riley-Ruvalcaba syndrome MONDO:0033927 Orphanet:109 Orphanet:459537 obsolete genetic complex vascular malformation with associated anomalies +MONDO:0007924 Bannayan-Riley-Ruvalcaba syndrome MONDO:0035863 Orphanet:109 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0007924 Bannayan-Riley-Ruvalcaba syndrome MONDO:8000032 Orphanet:109 Orphanet:377789 obsolete malformation syndrome +MONDO:0007927 congenital macroglossia MONDO:8000032 Orphanet:2430 Orphanet:377789 obsolete malformation syndrome +MONDO:0007937 renal hypomagnesemia 2 MONDO:0019744 Orphanet:34528 Orphanet:93603 obsolete rare renal tubular disease +MONDO:0007943 Nager acrofacial dysostosis MONDO:0015334 Orphanet:245 Orphanet:139036 obsolete branchial arch or oral-acral syndrome +MONDO:0007943 Nager acrofacial dysostosis MONDO:0020157 Orphanet:245 Orphanet:98566 obsolete syndromic palpebral coloboma +MONDO:0007943 Nager acrofacial dysostosis MONDO:0020167 Orphanet:245 Orphanet:98576 obsolete malposition of external canthus +MONDO:0007943 Nager acrofacial dysostosis MONDO:0024148 Orphanet:245 Orphanet:138050 obsolete Pierre Robin syndrome associated with branchial archs anomalies +MONDO:0007943 Nager acrofacial dysostosis MONDO:0026189 Orphanet:245 Orphanet:183576 obsolete genetic branchial arch or oral-acral syndrome +MONDO:0007943 Nager acrofacial dysostosis MONDO:0043008 Orphanet:245 Orphanet:330206 obsolete genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability +MONDO:0007943 Nager acrofacial dysostosis MONDO:8000032 Orphanet:245 Orphanet:377789 obsolete malformation syndrome +MONDO:0007946 jaw-winking syndrome MONDO:0020169 Orphanet:91412 Orphanet:98578 obsolete rare disorder with ptosis +MONDO:0007947 Marfan syndrome MONDO:0015332 Orphanet:558 Orphanet:139030 obsolete rare developmental defect with connective tissue involvement +MONDO:0007947 Marfan syndrome MONDO:0017311 Orphanet:558 Orphanet:285014 obsolete rare disease with thoracic aortic aneurysm and aortic dissection +MONDO:0007947 Marfan syndrome MONDO:0020211 Orphanet:558 Orphanet:98623 obsolete syndromic keratoconus +MONDO:0007947 Marfan syndrome MONDO:0034937 Orphanet:558 Orphanet:519292 obsolete syndromic ectopia lentis +MONDO:0007947 Marfan syndrome MONDO:0800091 Orphanet:558 Orphanet:498448 obsolete overgrowth or tall stature syndrome with skeletal involvement +MONDO:0007947 Marfan syndrome MONDO:8000031 Orphanet:284963 Orphanet:557494 obsolete subtype of a disorder +MONDO:0007949 Marshall syndrome MONDO:0020222 Orphanet:560 Orphanet:98638 obsolete rare disease with glaucoma as a major feature +MONDO:0007949 Marshall syndrome MONDO:0020225 Orphanet:560 Orphanet:98641 obsolete syndromic cataract +MONDO:0007949 Marshall syndrome MONDO:0034937 Orphanet:560 Orphanet:519292 obsolete syndromic ectopia lentis +MONDO:0007949 Marshall syndrome MONDO:0043008 Orphanet:560 Orphanet:330206 obsolete genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability +MONDO:0007949 Marshall syndrome MONDO:0800087 Orphanet:560 Orphanet:93422 obsolete type 11 collagen-related bone disorder +MONDO:0007949 Marshall syndrome MONDO:8000032 Orphanet:560 Orphanet:377789 obsolete malformation syndrome +MONDO:0007950 mastocytosis MONDO:0019044 Orphanet:98292 Orphanet:68347 obsolete tumor of hematopoietic and lymphoid tissues +MONDO:0007953 Binder syndrome MONDO:0015501 Orphanet:1248 Orphanet:156237 obsolete syndrome or malformation associated with head and neck malformations +MONDO:0007953 Binder syndrome MONDO:0019589 Orphanet:1248 Orphanet:90642 obsolete syndromic genetic hearing loss +MONDO:0007953 Binder syndrome MONDO:0043008 Orphanet:1248 Orphanet:330206 obsolete genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability +MONDO:0007953 Binder syndrome MONDO:8000032 Orphanet:1248 Orphanet:377789 obsolete malformation syndrome +MONDO:0007956 Pai syndrome MONDO:0015335 Orphanet:1993 Orphanet:139039 obsolete Mendelian syndromes with cleft lip/palate +MONDO:0007956 Pai syndrome MONDO:8000032 Orphanet:1993 Orphanet:377789 obsolete malformation syndrome +MONDO:0007958 familial medullary thyroid carcinoma MONDO:0018538 Orphanet:99361 Orphanet:425003 obsolete inherited digestive cancer-predisposing syndrome +MONDO:0007959 medulloblastoma MONDO:0016708 Orphanet:616 Orphanet:251852 obsolete embryonal tumor of neuroepithelial tissue +MONDO:0007967 melanoma and neural system tumor syndrome MONDO:0016756 Orphanet:252206 Orphanet:252190 obsolete inherited nervous system cancer-predisposing syndrome +MONDO:0007969 Melkersson-Rosenthal syndrome MONDO:0019298 Orphanet:2483 Orphanet:79384 obsolete rare urticaria +MONDO:0007969 Melkersson-Rosenthal syndrome MONDO:8000032 Orphanet:2483 Orphanet:377789 obsolete malformation syndrome +MONDO:0007970 melorheostosis MONDO:8000032 Orphanet:2485 Orphanet:377789 obsolete malformation syndrome +MONDO:0007971 delayed membranous cranial ossification MONDO:0019709 Orphanet:3034 Orphanet:93451 obsolete cleidocranial dysplasia and isolated cranial ossification defect +MONDO:0007971 delayed membranous cranial ossification MONDO:0020018 Orphanet:3034 Orphanet:98038 obsolete cranial malformation +MONDO:0007971 delayed membranous cranial ossification MONDO:0026182 Orphanet:3034 Orphanet:183542 obsolete genetic cranial malformation +MONDO:0007971 delayed membranous cranial ossification MONDO:8000032 Orphanet:3034 Orphanet:377789 obsolete malformation syndrome +MONDO:0007977 mesomelic dysplasia, Kantaputra type MONDO:0019697 Orphanet:1836 Orphanet:93438 obsolete mesomelic and rhizo-mesomelic dysplasia +MONDO:0007977 mesomelic dysplasia, Kantaputra type MONDO:8000032 Orphanet:1836 Orphanet:377789 obsolete malformation syndrome +MONDO:0007979 metachondromatosis MONDO:0800089 Orphanet:2499 Orphanet:93450 obsolete primary bone dysplasia with disorganized development of skeletal components +MONDO:0007979 metachondromatosis MONDO:8000032 Orphanet:2499 Orphanet:377789 obsolete malformation syndrome +MONDO:0007982 metaphyseal chondrodysplasia, Jansen type MONDO:0019693 Orphanet:33067 Orphanet:93430 obsolete multiple metaphyseal dysplasia +MONDO:0007983 Schmid metaphyseal chondrodysplasia MONDO:0019693 Orphanet:174 Orphanet:93430 obsolete multiple metaphyseal dysplasia +MONDO:0007984 metaphyseal dysplasia-maxillary hypoplasia-brachydacty syndrome MONDO:0019693 Orphanet:2504 Orphanet:93430 obsolete multiple metaphyseal dysplasia +MONDO:0007984 metaphyseal dysplasia-maxillary hypoplasia-brachydacty syndrome MONDO:8000032 Orphanet:2504 Orphanet:377789 obsolete malformation syndrome +MONDO:0007987 Kniest dysplasia MONDO:0024145 Orphanet:485 Orphanet:138041 obsolete Pierre Robin syndrome associated with collagen disease +MONDO:0007988 autosomal dominant primary microcephaly MONDO:0035863 Orphanet:2514 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0007988 autosomal dominant primary microcephaly MONDO:8000031 Orphanet:2514 Orphanet:557494 obsolete subtype of a disorder +MONDO:0007989 congenital microcoria MONDO:8000032 Orphanet:566 Orphanet:377789 obsolete malformation syndrome +MONDO:0007990 multiple benign circumferential skin creases on limbs MONDO:0019299 Orphanet:2505 Orphanet:79385 obsolete unclassified genetic skin disorder +MONDO:0007990 multiple benign circumferential skin creases on limbs MONDO:0035862 Orphanet:2505 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome +MONDO:0007991 microcephaly-deafness-intellectual disability syndrome MONDO:0019589 Orphanet:2533 Orphanet:90642 obsolete syndromic genetic hearing loss +MONDO:0007991 microcephaly-deafness-intellectual disability syndrome MONDO:0035863 Orphanet:2533 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0007991 microcephaly-deafness-intellectual disability syndrome MONDO:8000032 Orphanet:2533 Orphanet:377789 obsolete malformation syndrome +MONDO:0007992 microcornea-glaucoma-absent frontal sinuses syndrome MONDO:0020222 Orphanet:2536 Orphanet:98638 obsolete rare disease with glaucoma as a major feature +MONDO:0007992 microcornea-glaucoma-absent frontal sinuses syndrome MONDO:8000032 Orphanet:2536 Orphanet:377789 obsolete malformation syndrome +MONDO:0007993 microgastria-limb reduction defect syndrome MONDO:0015210 Orphanet:2538 Orphanet:108965 obsolete syndromic gastroduodenal malformation +MONDO:0007993 microgastria-limb reduction defect syndrome MONDO:8000032 Orphanet:2538 Orphanet:377789 obsolete malformation syndrome +MONDO:0007998 microspherophakia-metaphyseal dysplasia syndrome MONDO:0020225 Orphanet:2551 Orphanet:98641 obsolete syndromic cataract +MONDO:0007998 microspherophakia-metaphyseal dysplasia syndrome MONDO:0034937 Orphanet:2551 Orphanet:519292 obsolete syndromic ectopia lentis +MONDO:0007998 microspherophakia-metaphyseal dysplasia syndrome MONDO:8000032 Orphanet:2551 Orphanet:377789 obsolete malformation syndrome +MONDO:0008003 autosomal dominant progressive external ophthalmoplegia MONDO:0016797 Orphanet:254892 Orphanet:254807 obsolete multiple mitochondrial DNA deletion syndrome +MONDO:0008003 autosomal dominant progressive external ophthalmoplegia MONDO:0019058 Orphanet:254892 Orphanet:68385 obsolete neurometabolic disease +MONDO:0008004 familial mitral valve prolapse MONDO:0017131 Orphanet:741 Orphanet:271853 obsolete hereditary cardiac anomaly +MONDO:0008004 familial mitral valve prolapse MONDO:8000030 Orphanet:741 Orphanet:377791 obsolete morphological anomaly +MONDO:0008005 cardiospondylocarpofacial syndrome MONDO:0019589 Orphanet:3238 Orphanet:90642 obsolete syndromic genetic hearing loss +MONDO:0008005 cardiospondylocarpofacial syndrome MONDO:8000032 Orphanet:3238 Orphanet:377789 obsolete malformation syndrome +MONDO:0008006 Mobius syndrome MONDO:0015334 Orphanet:570 Orphanet:139036 obsolete branchial arch or oral-acral syndrome +MONDO:0008006 Mobius syndrome MONDO:0015499 Orphanet:570 Orphanet:156224 obsolete paralytic facial malformation +MONDO:0008006 Mobius syndrome MONDO:0020132 Orphanet:570 Orphanet:98518 obsolete cranial nerve and nuclear aplasia +MONDO:0008006 Mobius syndrome MONDO:0020253 Orphanet:570 Orphanet:98683 obsolete syndrome with a symptomatic strabismus +MONDO:0008006 Mobius syndrome MONDO:0026189 Orphanet:570 Orphanet:183576 obsolete genetic branchial arch or oral-acral syndrome +MONDO:0008006 Mobius syndrome MONDO:0035863 Orphanet:570 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0008007 tooth ankylosis MONDO:0015603 Orphanet:1077 Orphanet:164001 obsolete rare odontal or periodontal disorder +MONDO:0008007 tooth ankylosis MONDO:0018488 Orphanet:1077 Orphanet:420755 obsolete rare genetic odontal or periodontal disorder +MONDO:0008007 tooth ankylosis MONDO:8000032 Orphanet:1077 Orphanet:377789 obsolete malformation syndrome +MONDO:0008008 MOMO syndrome MONDO:0016565 Orphanet:2563 Orphanet:240371 obsolete syndromic genetic obesity +MONDO:0008008 MOMO syndrome MONDO:8000032 Orphanet:2563 Orphanet:377789 obsolete malformation syndrome +MONDO:0008009 monilethrix MONDO:0019281 Orphanet:573 Orphanet:79366 obsolete isolated genetic hair shaft abnormality +MONDO:0008013 chromosome 9p deletion syndrome MONDO:0016891 Orphanet:261112 Orphanet:261929 obsolete partial deletion of the short arm of chromosome 9 +MONDO:0008013 chromosome 9p deletion syndrome MONDO:8000032 Orphanet:261112 Orphanet:377789 obsolete malformation syndrome +MONDO:0008016 trismus-pseudocamptodactyly syndrome MONDO:8000032 Orphanet:3377 Orphanet:377789 obsolete malformation syndrome +MONDO:0008017 hereditary mucoepithelial dysplasia MONDO:0019305 Orphanet:1839 Orphanet:79391 obsolete immune deficiency with skin involvement +MONDO:0008017 hereditary mucoepithelial dysplasia MONDO:0020225 Orphanet:1839 Orphanet:98641 obsolete syndromic cataract +MONDO:0008017 hereditary mucoepithelial dysplasia MONDO:0026166 Orphanet:1839 Orphanet:183494 obsolete genetic immune deficiency with skin involvement +MONDO:0008017 hereditary mucoepithelial dysplasia MONDO:8000032 Orphanet:1839 Orphanet:377789 obsolete malformation syndrome +MONDO:0008019 mullerian aplasia and hyperandrogenism MONDO:0017965 Orphanet:247768 Orphanet:325109 obsolete syndrome with 46,XX disorder of sex development +MONDO:0008019 mullerian aplasia and hyperandrogenism MONDO:0017978 Orphanet:247768 Orphanet:325638 obsolete syndrome with disorder of sex development of gynecological interest +MONDO:0008019 mullerian aplasia and hyperandrogenism MONDO:8000032 Orphanet:247768 Orphanet:377789 obsolete malformation syndrome +MONDO:0008023 muscular atrophy-ataxia-retinitis pigmentosa-diabetes mellitus syndrome MONDO:0020240 Orphanet:2579 Orphanet:98661 obsolete syndromic retinitis pigmentosa +MONDO:0008026 autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures MONDO:8000031 Orphanet:209341 Orphanet:557494 obsolete subtype of a disorder +MONDO:0008038 ataxia-pancytopenia syndrome MONDO:0015141 Orphanet:2585 Orphanet:102000 obsolete disorder of medulla oblongata +MONDO:0008038 ataxia-pancytopenia syndrome MONDO:0026173 Orphanet:2585 Orphanet:183515 obsolete rare genetic medullar disease +MONDO:0008038 ataxia-pancytopenia syndrome MONDO:8000032 Orphanet:2585 Orphanet:377789 obsolete malformation syndrome +MONDO:0008039 tropical spastic paraparesis MONDO:0015576 Orphanet:289326 Orphanet:163585 obsolete rare viral disease +MONDO:0008043 myoclonus-cerebellar ataxia-deafness syndrome MONDO:0019589 Orphanet:2589 Orphanet:90642 obsolete syndromic genetic hearing loss +MONDO:0008043 myoclonus-cerebellar ataxia-deafness syndrome MONDO:8000032 Orphanet:2589 Orphanet:377789 obsolete malformation syndrome +MONDO:0008046 autosomal dominant myoglobinuria MONDO:0016117 Orphanet:99846 Orphanet:206953 obsolete muscular lipidosis +MONDO:0008046 autosomal dominant myoglobinuria MONDO:0019602 Orphanet:99846 Orphanet:91088 obsolete other inborn metabolic disease +MONDO:0008054 juvenile dermatomyositis MONDO:0017021 Orphanet:93672 Orphanet:264704 obsolete secondary interstitial lung disease specific to childhood associated with a connective tissue disease +MONDO:0008054 juvenile dermatomyositis MONDO:0017368 Orphanet:93672 Orphanet:290836 obsolete systemic disease with skin involvement +MONDO:0008056 myotonic dystrophy type 1 MONDO:0020016 Orphanet:273 Orphanet:98033 obsolete rare neurologic disease with psychiatric involvement +MONDO:0008056 myotonic dystrophy type 1 MONDO:0020169 Orphanet:273 Orphanet:98578 obsolete rare disorder with ptosis +MONDO:0008056 myotonic dystrophy type 1 MONDO:0020232 Orphanet:273 Orphanet:98648 obsolete musculoskeletal disease with cataract +MONDO:0008056 myotonic dystrophy type 1 MONDO:0026989 Orphanet:273 Orphanet:217595 obsolete syndrome associated with hypertrophic cardiomyopathy +MONDO:0008059 Naegeli-Franceschetti-Jadassohn syndrome MONDO:0020094 Orphanet:69087 Orphanet:98352 obsolete autosomal dominant disease with diffuse palmoplantar keratoderma as a major feature +MONDO:0008061 nail-patella syndrome MONDO:0019285 Orphanet:2614 Orphanet:79370 obsolete syndromic nail anomaly +MONDO:0008061 nail-patella syndrome MONDO:0019712 Orphanet:2614 Orphanet:93455 obsolete patellar dysostosis +MONDO:0008061 nail-patella syndrome MONDO:0020222 Orphanet:2614 Orphanet:98638 obsolete rare disease with glaucoma as a major feature +MONDO:0008061 nail-patella syndrome MONDO:8000032 Orphanet:2614 Orphanet:377789 obsolete malformation syndrome +MONDO:0008071 autosomal dominant progressive nephropathy with hypertension MONDO:0015512 Orphanet:88659 Orphanet:156629 obsolete genetic hypertension +MONDO:0008073 familial juvenile hyperuricemic nephropathy type 1 MONDO:0022409 Orphanet:88950 Orphanet:156162 obsolete nephropathy-associated ciliopathy +MONDO:0008073 familial juvenile hyperuricemic nephropathy type 1 MONDO:8000031 Orphanet:88950 Orphanet:557494 obsolete subtype of a disorder +MONDO:0008075 schwannomatosis MONDO:0020063 Orphanet:93921 Orphanet:98196 obsolete malformation syndrome with hamartosis +MONDO:0008082 multiple endocrine neoplasia type 2B MONDO:8000031 Orphanet:247709 Orphanet:557494 obsolete subtype of a disorder +MONDO:0008087 hereditary neuropathy with liability to pressure palsies MONDO:0015359 Orphanet:640 Orphanet:140453 obsolete autosomal dominant hereditary demyelinating motor and sensory neuropathy +MONDO:0008087 hereditary neuropathy with liability to pressure palsies MONDO:8000032 Orphanet:640 Orphanet:377789 obsolete malformation syndrome +MONDO:0008092 hereditary neutrophilia MONDO:0015984 Orphanet:279943 Orphanet:183770 obsolete rare genetic immune disease +MONDO:0008092 hereditary neutrophilia MONDO:0020008 Orphanet:279943 Orphanet:98004 obsolete rare immune disease +MONDO:0008094 familial multiple nevi flammei MONDO:0015948 Orphanet:624 Orphanet:183478 obsolete rare genetic skin vascular disorder +MONDO:0008094 familial multiple nevi flammei MONDO:0018728 Orphanet:624 Orphanet:459526 obsolete rare genetic capillary malformation +MONDO:0008094 familial multiple nevi flammei MONDO:8000030 Orphanet:624 Orphanet:377791 obsolete morphological anomaly +MONDO:0008097 linear nevus sebaceous syndrome MONDO:0017414 Orphanet:2612 Orphanet:294057 obsolete rare nevus +MONDO:0008097 linear nevus sebaceous syndrome MONDO:0020063 Orphanet:2612 Orphanet:98196 obsolete malformation syndrome with hamartosis +MONDO:0008098 mesomelic dwarfism, Nievergelt type MONDO:0019697 Orphanet:2633 Orphanet:93438 obsolete mesomelic and rhizo-mesomelic dysplasia +MONDO:0008098 mesomelic dwarfism, Nievergelt type MONDO:8000032 Orphanet:2633 Orphanet:377789 obsolete malformation syndrome +MONDO:0008101 familial supernumerary nipples MONDO:0015852 Orphanet:2456 Orphanet:180170 obsolete excess breast volume or number +MONDO:0008101 familial supernumerary nipples MONDO:8000030 Orphanet:2456 Orphanet:377791 obsolete morphological anomaly +MONDO:0008108 oculocerebrocutaneous syndrome MONDO:0017120 Orphanet:1647 Orphanet:269531 obsolete other syndrome with a central nervous system malformation as major feature +MONDO:0008108 oculocerebrocutaneous syndrome MONDO:8000032 Orphanet:1647 Orphanet:377789 obsolete malformation syndrome +MONDO:0008111 oculodentodigital dysplasia MONDO:0015336 Orphanet:2710 Orphanet:139042 obsolete malformation syndrome with odontal and/or periodontal component +MONDO:0008111 oculodentodigital dysplasia MONDO:0020225 Orphanet:2710 Orphanet:98641 obsolete syndromic cataract +MONDO:0008111 oculodentodigital dysplasia MONDO:0026190 Orphanet:2710 Orphanet:183580 obsolete genetic malformation syndrome with odontal and/or periodontal component +MONDO:0008111 oculodentodigital dysplasia MONDO:0035471 Orphanet:2710 Orphanet:568047 obsolete disorder with multisystemic involvement and primary lymphedema +MONDO:0008111 oculodentodigital dysplasia MONDO:0035863 Orphanet:2710 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0008111 oculodentodigital dysplasia MONDO:0800084 Orphanet:2710 Orphanet:93444 obsolete primary bone dysplasia with increased bone density +MONDO:0008111 oculodentodigital dysplasia MONDO:8000032 Orphanet:2710 Orphanet:377789 obsolete malformation syndrome +MONDO:0008113 Schilbach-Rott syndrome MONDO:0015620 Orphanet:2353 Orphanet:165707 obsolete syndromic urogenital tract malformation +MONDO:0008113 Schilbach-Rott syndrome MONDO:0043008 Orphanet:2353 Orphanet:330206 obsolete genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability +MONDO:0008113 Schilbach-Rott syndrome MONDO:8000032 Orphanet:2353 Orphanet:377789 obsolete malformation syndrome +MONDO:0008115 Feingold syndrome type 1 MONDO:8000031 Orphanet:391641 Orphanet:557494 obsolete subtype of a disorder +MONDO:0008116 oculopharyngeal muscular dystrophy MONDO:0020169 Orphanet:270 Orphanet:98578 obsolete rare disorder with ptosis +MONDO:0008118 odontomatosis-aortae esophagus stenosis syndrome MONDO:0015336 Orphanet:2724 Orphanet:139042 obsolete malformation syndrome with odontal and/or periodontal component +MONDO:0008118 odontomatosis-aortae esophagus stenosis syndrome MONDO:0026190 Orphanet:2724 Orphanet:183580 obsolete genetic malformation syndrome with odontal and/or periodontal component +MONDO:0008118 odontomatosis-aortae esophagus stenosis syndrome MONDO:8000032 Orphanet:2724 Orphanet:377789 obsolete malformation syndrome +MONDO:0008119 spinocerebellar ataxia type 1 MONDO:0034961 Orphanet:98755 Orphanet:519341 obsolete rare brainstem or cerebellar disorder with ophthalmic involvement as a major feature +MONDO:0008123 autosomal dominant omodysplasia MONDO:8000031 Orphanet:93328 Orphanet:557494 obsolete subtype of a disorder +MONDO:0008127 ophthalmomandibulomelic dysplasia MONDO:0020215 Orphanet:2741 Orphanet:98628 obsolete syndromic corneal dystrophy +MONDO:0008127 ophthalmomandibulomelic dysplasia MONDO:8000032 Orphanet:2741 Orphanet:377789 obsolete malformation syndrome +MONDO:0008130 ophthalmoplegia-intellectual disability-lingua scrotalis syndrome MONDO:0035863 Orphanet:2743 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0008130 ophthalmoplegia-intellectual disability-lingua scrotalis syndrome MONDO:8000032 Orphanet:2743 Orphanet:377789 obsolete malformation syndrome +MONDO:0008133 optic atrophy 3 MONDO:0016799 Orphanet:67036 Orphanet:254822 obsolete mitochondrial oxidative phosphorylation disorder with no known mechanism +MONDO:0008134 autosomal dominant optic atrophy, classic form MONDO:0016799 Orphanet:98673 Orphanet:254822 obsolete mitochondrial oxidative phosphorylation disorder with no known mechanism +MONDO:0008137 orofaciodigital syndrome X MONDO:0035863 Orphanet:2756 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0008137 orofaciodigital syndrome X MONDO:8000032 Orphanet:2756 Orphanet:377789 obsolete malformation syndrome +MONDO:0008138 syndromic orbital border hypoplasia MONDO:8000032 Orphanet:98606 Orphanet:377789 obsolete malformation syndrome +MONDO:0008139 OSLAM syndrome MONDO:0015959 Orphanet:2760 Orphanet:183527 obsolete inherited syndrome with bone tumors as a major feature +MONDO:0008139 OSLAM syndrome MONDO:0800095 Orphanet:2760 Orphanet:93459 obsolete syndrome with synostosis or other joint formation defect +MONDO:0008139 OSLAM syndrome MONDO:8000032 Orphanet:2760 Orphanet:377789 obsolete malformation syndrome +MONDO:0008142 Thiemann disease, familial form MONDO:0018385 Orphanet:3314 Orphanet:399391 obsolete osteochondrosis of genetic origin +MONDO:0008145 Ollier disease MONDO:0015959 Orphanet:296 Orphanet:183527 obsolete inherited syndrome with bone tumors as a major feature +MONDO:0008145 Ollier disease MONDO:0020063 Orphanet:296 Orphanet:98196 obsolete malformation syndrome with hamartosis +MONDO:0008145 Ollier disease MONDO:0800089 Orphanet:296 Orphanet:93450 obsolete primary bone dysplasia with disorganized development of skeletal components +MONDO:0008146 osteogenesis imperfecta type 1 MONDO:8000031 Orphanet:216796 Orphanet:557494 obsolete subtype of a disorder +MONDO:0008147 osteogenesis imperfecta type 2 MONDO:8000031 Orphanet:216804 Orphanet:557494 obsolete subtype of a disorder +MONDO:0008148 osteogenesis imperfecta type 4 MONDO:0015669 Orphanet:216820 Orphanet:167762 obsolete rare disease with dentinogenesis imperfecta +MONDO:0008148 osteogenesis imperfecta type 4 MONDO:8000031 Orphanet:216820 Orphanet:557494 obsolete subtype of a disorder +MONDO:0008150 osteoglophonic dwarfism MONDO:0800089 Orphanet:2645 Orphanet:93450 obsolete primary bone dysplasia with disorganized development of skeletal components +MONDO:0008150 osteoglophonic dwarfism MONDO:8000032 Orphanet:2645 Orphanet:377789 obsolete malformation syndrome +MONDO:0008151 gnathodiaphyseal dysplasia MONDO:0019704 Orphanet:53697 Orphanet:93446 obsolete primary bone dysplasia with decreased bone density +MONDO:0008151 gnathodiaphyseal dysplasia MONDO:0800089 Orphanet:53697 Orphanet:93450 obsolete primary bone dysplasia with disorganized development of skeletal components +MONDO:0008151 gnathodiaphyseal dysplasia MONDO:8000032 Orphanet:53697 Orphanet:377789 obsolete malformation syndrome +MONDO:0008152 multicentric carpo-tarsal osteolysis with or without nephropathy MONDO:0019721 Orphanet:2774 Orphanet:93547 obsolete syndromic renal or urinary tract malformation +MONDO:0008152 multicentric carpo-tarsal osteolysis with or without nephropathy MONDO:8000032 Orphanet:2774 Orphanet:377789 obsolete malformation syndrome +MONDO:0008153 progressive osseous heteroplasia MONDO:0018231 Orphanet:2762 Orphanet:364531 obsolete primary bone dysplasia with progressive ossification of skin, skeletal muscle, fascia, tendons and ligaments +MONDO:0008153 progressive osseous heteroplasia MONDO:0018798 Orphanet:2762 Orphanet:477808 obsolete other genetic dermis disorder +MONDO:0008153 progressive osseous heteroplasia MONDO:0800089 Orphanet:2762 Orphanet:93450 obsolete primary bone dysplasia with disorganized development of skeletal components +MONDO:0008153 progressive osseous heteroplasia MONDO:8000032 Orphanet:2762 Orphanet:377789 obsolete malformation syndrome +MONDO:0008155 osteomesopyknosis MONDO:8000032 Orphanet:2777 Orphanet:377789 obsolete malformation syndrome +MONDO:0008156 autosomal dominant osteopetrosis 2 MONDO:8000032 Orphanet:53 Orphanet:377789 obsolete malformation syndrome +MONDO:0008158 dacryocystitis-osteopoikilosis syndrome MONDO:0800084 Orphanet:1562 Orphanet:93444 obsolete primary bone dysplasia with increased bone density +MONDO:0008158 dacryocystitis-osteopoikilosis syndrome MONDO:8000032 Orphanet:1562 Orphanet:377789 obsolete malformation syndrome +MONDO:0008161 otodental syndrome MONDO:0015336 Orphanet:2791 Orphanet:139042 obsolete malformation syndrome with odontal and/or periodontal component +MONDO:0008161 otodental syndrome MONDO:0026190 Orphanet:2791 Orphanet:183580 obsolete genetic malformation syndrome with odontal and/or periodontal component +MONDO:0008161 otodental syndrome MONDO:8000032 Orphanet:2791 Orphanet:377789 obsolete malformation syndrome +MONDO:0008163 otofaciocervical syndrome MONDO:0015334 Orphanet:2792 Orphanet:139036 obsolete branchial arch or oral-acral syndrome +MONDO:0008163 otofaciocervical syndrome MONDO:0026189 Orphanet:2792 Orphanet:183576 obsolete genetic branchial arch or oral-acral syndrome +MONDO:0008163 otofaciocervical syndrome MONDO:0035863 Orphanet:2792 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0008163 otofaciocervical syndrome MONDO:8000032 Orphanet:2792 Orphanet:377789 obsolete malformation syndrome +MONDO:0008168 ovarian fibroma MONDO:0019965 Orphanet:314473 Orphanet:97293 obsolete rare benign ovarian tumor +MONDO:0008170 ovarian cancer MONDO:0015861 Orphanet:213500 Orphanet:180220 obsolete rare uterine adnexal tumor +MONDO:0008175 pacman dysplasia MONDO:8000032 Orphanet:1952 Orphanet:377789 obsolete malformation syndrome +MONDO:0008177 extramammary Paget disease MONDO:0019300 Orphanet:2800 Orphanet:79386 obsolete rare skin tumor or hamartoma +MONDO:0008177 extramammary Paget disease MONDO:0020037 Orphanet:2800 Orphanet:98063 obsolete rare gynecological tumor +MONDO:0008179 paroxysmal extreme pain disorder MONDO:0019117 Orphanet:46348 Orphanet:71859 obsolete genetic nervous system disorder +MONDO:0008179 paroxysmal extreme pain disorder MONDO:0020009 Orphanet:46348 Orphanet:98006 obsolete rare neurologic disease +MONDO:0008180 congenital velopharyngeal incompetence MONDO:0015504 Orphanet:2291 Orphanet:156249 obsolete larynx anomaly +MONDO:0008180 congenital velopharyngeal incompetence MONDO:0033335 Orphanet:2291 Orphanet:435609 obsolete genetic larynx anomaly +MONDO:0008180 congenital velopharyngeal incompetence MONDO:8000030 Orphanet:2291 Orphanet:377791 obsolete morphological anomaly +MONDO:0008182 nasopalpebral lipoma-coloboma syndrome MONDO:0020157 Orphanet:2399 Orphanet:98566 obsolete syndromic palpebral coloboma +MONDO:0008182 nasopalpebral lipoma-coloboma syndrome MONDO:0043008 Orphanet:2399 Orphanet:330206 obsolete genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability +MONDO:0008182 nasopalpebral lipoma-coloboma syndrome MONDO:8000032 Orphanet:2399 Orphanet:377789 obsolete malformation syndrome +MONDO:0008183 annular pancreas MONDO:0015213 Orphanet:675 Orphanet:108971 obsolete non-syndromic visceral malformation +MONDO:0008183 annular pancreas MONDO:8000030 Orphanet:675 Orphanet:377791 obsolete morphological anomaly +MONDO:0008185 hereditary chronic pancreatitis MONDO:0015112 Orphanet:676 Orphanet:101937 obsolete rare pancreatic disease +MONDO:0008185 hereditary chronic pancreatitis MONDO:0015618 Orphanet:676 Orphanet:165661 obsolete genetic pancreatic disease +MONDO:0008185 hereditary chronic pancreatitis MONDO:0015888 Orphanet:676 Orphanet:181381 obsolete other rare diabetes mellitus +MONDO:0008196 parastremmatic dwarfism MONDO:8000032 Orphanet:2646 Orphanet:377789 obsolete malformation syndrome +MONDO:0008198 parietal foramina with cleidocranial dysplasia MONDO:0019709 Orphanet:251290 Orphanet:93451 obsolete cleidocranial dysplasia and isolated cranial ossification defect +MONDO:0008198 parietal foramina with cleidocranial dysplasia MONDO:0020018 Orphanet:251290 Orphanet:98038 obsolete cranial malformation +MONDO:0008198 parietal foramina with cleidocranial dysplasia MONDO:8000032 Orphanet:251290 Orphanet:377789 obsolete malformation syndrome +MONDO:0008199 late-onset Parkinson disease MONDO:0017635 Orphanet:411602 Orphanet:306666 obsolete parkinsonian syndrome due to neurodegenerative disease +MONDO:0008199 late-onset Parkinson disease MONDO:0017661 Orphanet:411602 Orphanet:307055 obsolete rare parkinsonian syndrome due to genetic neurodegenerative disease +MONDO:0008199 late-onset Parkinson disease MONDO:0020136 Orphanet:411602 Orphanet:98534 obsolete neurodegenerative disease with dementia +MONDO:0008199 late-onset Parkinson disease MONDO:0021037 Orphanet:411602 Orphanet:276058 obsolete genetic neurodegenerative disease with dementia +MONDO:0008201 Perry syndrome MONDO:0017635 Orphanet:178509 Orphanet:306666 obsolete parkinsonian syndrome due to neurodegenerative disease +MONDO:0008201 Perry syndrome MONDO:0017661 Orphanet:178509 Orphanet:307055 obsolete rare parkinsonian syndrome due to genetic neurodegenerative disease +MONDO:0008205 patella aplasia/hypoplasia MONDO:0015227 Orphanet:86789 Orphanet:109011 obsolete non-syndromic limb malformation +MONDO:0008205 patella aplasia/hypoplasia MONDO:0019712 Orphanet:86789 Orphanet:93455 obsolete patellar dysostosis +MONDO:0008205 patella aplasia/hypoplasia MONDO:8000030 Orphanet:86789 Orphanet:377791 obsolete morphological anomaly +MONDO:0008206 benign paroxysmal tonic upgaze of childhood with ataxia MONDO:0017657 Orphanet:1179 Orphanet:306768 obsolete rare paroxysmal movement disorder +MONDO:0008209 Char syndrome MONDO:0020169 Orphanet:46627 Orphanet:98578 obsolete rare disorder with ptosis +MONDO:0008209 Char syndrome MONDO:0035863 Orphanet:46627 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0008209 Char syndrome MONDO:8000032 Orphanet:46627 Orphanet:377789 obsolete malformation syndrome +MONDO:0008211 pseudoleprechaunism syndrome, Patterson type MONDO:0015971 Orphanet:2976 Orphanet:183637 obsolete rare genetic adrenal disease +MONDO:0008211 pseudoleprechaunism syndrome, Patterson type MONDO:0017820 Orphanet:2976 Orphanet:314749 obsolete obsolete disease with Cushing syndrome as a major feature +MONDO:0008211 pseudoleprechaunism syndrome, Patterson type MONDO:8000032 Orphanet:2976 Orphanet:377789 obsolete malformation syndrome +MONDO:0008215 adult-onset autosomal dominant demyelinating leukodystrophy MONDO:0034961 Orphanet:99027 Orphanet:519341 obsolete rare brainstem or cerebellar disorder with ophthalmic involvement as a major feature +MONDO:0008217 pelvis-shoulder dysplasia MONDO:0017432 Orphanet:2839 Orphanet:294955 obsolete syndrome with limb reduction defects +MONDO:0008217 pelvis-shoulder dysplasia MONDO:8000032 Orphanet:2839 Orphanet:377789 obsolete malformation syndrome +MONDO:0008218 Hailey-Hailey disease MONDO:0015946 Orphanet:2841 Orphanet:183426 obsolete rare genetic epidermal disorder +MONDO:0008218 Hailey-Hailey disease MONDO:0019274 Orphanet:2841 Orphanet:79359 obsolete other epidermal disorder +MONDO:0008221 prolidase deficiency MONDO:0019058 Orphanet:742 Orphanet:68385 obsolete neurometabolic disease +MONDO:0008221 prolidase deficiency MONDO:0019301 Orphanet:742 Orphanet:79387 obsolete metabolic disease with skin involvement +MONDO:0008221 prolidase deficiency MONDO:0035471 Orphanet:742 Orphanet:568047 obsolete disorder with multisystemic involvement and primary lymphedema +MONDO:0008221 prolidase deficiency MONDO:0035862 Orphanet:742 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome +MONDO:0008222 Andersen-Tawil syndrome MONDO:0015110 Orphanet:37553 Orphanet:101934 obsolete genetic cardiac rhythm disease +MONDO:0008234 multiple endocrine neoplasia type 2A MONDO:8000031 Orphanet:247698 Orphanet:557494 obsolete subtype of a disorder +MONDO:0008237 phocomelia-ectrodactyly-deafness-sinus arrhythmia syndrome MONDO:0017432 Orphanet:2878 Orphanet:294955 obsolete syndrome with limb reduction defects +MONDO:0008237 phocomelia-ectrodactyly-deafness-sinus arrhythmia syndrome MONDO:0019589 Orphanet:2878 Orphanet:90642 obsolete syndromic genetic hearing loss +MONDO:0008237 phocomelia-ectrodactyly-deafness-sinus arrhythmia syndrome MONDO:0800090 Orphanet:2878 Orphanet:498477 obsolete ectrodactyly with and without other manifestations +MONDO:0008237 phocomelia-ectrodactyly-deafness-sinus arrhythmia syndrome MONDO:8000032 Orphanet:2878 Orphanet:377789 obsolete malformation syndrome +MONDO:0008245 piebald trait-neurologic defects syndrome MONDO:0035862 Orphanet:2885 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome +MONDO:0008245 piebald trait-neurologic defects syndrome MONDO:8000032 Orphanet:2885 Orphanet:377789 obsolete malformation syndrome +MONDO:0008247 Robin sequence-oligodactyly syndrome MONDO:0015335 Orphanet:3104 Orphanet:139039 obsolete Mendelian syndromes with cleft lip/palate +MONDO:0008247 Robin sequence-oligodactyly syndrome MONDO:8000032 Orphanet:3104 Orphanet:377789 obsolete malformation syndrome +MONDO:0008250 isolated growth hormone deficiency type II MONDO:8000031 Orphanet:231679 Orphanet:557494 obsolete subtype of a disorder +MONDO:0008251 familial pityriasis rubra pilaris MONDO:0026150 Orphanet:2897 Orphanet:183438 obsolete genetic erythrokeratoderma +MONDO:0008259 familial spontaneous pneumothorax MONDO:0015118 Orphanet:2903 Orphanet:101944 obsolete rare pulmonary disease +MONDO:0008259 familial spontaneous pneumothorax MONDO:0015510 Orphanet:2903 Orphanet:156610 obsolete rare genetic respiratory disease +MONDO:0008260 Kindler syndrome MONDO:0019304 Orphanet:2908 Orphanet:79390 obsolete rare photodermatosis +MONDO:0008262 Poland syndrome MONDO:0800094 Orphanet:2911 Orphanet:498454 obsolete dysostosis with brachydactyly with extraskeletal manifestations +MONDO:0008262 Poland syndrome MONDO:8000032 Orphanet:2911 Orphanet:377789 obsolete malformation syndrome +MONDO:0008267 orofaciodigital syndrome V MONDO:0035863 Orphanet:2919 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0008267 orofaciodigital syndrome V MONDO:8000032 Orphanet:2919 Orphanet:377789 obsolete malformation syndrome +MONDO:0008268 polydactyly-myopia syndrome MONDO:0017434 Orphanet:2917 Orphanet:294959 obsolete syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy +MONDO:0008268 polydactyly-myopia syndrome MONDO:8000032 Orphanet:2917 Orphanet:377789 obsolete malformation syndrome +MONDO:0008269 polydactyly of a biphalangeal thumb MONDO:0034669 Orphanet:93339 Orphanet:498464 obsolete non-syndromic preaxial polydactyly +MONDO:0008269 polydactyly of a biphalangeal thumb MONDO:8000030 Orphanet:93339 Orphanet:377791 obsolete morphological anomaly +MONDO:0008270 polydactyly of a triphalangeal thumb MONDO:0034669 Orphanet:93336 Orphanet:498464 obsolete non-syndromic preaxial polydactyly +MONDO:0008270 polydactyly of a triphalangeal thumb MONDO:8000030 Orphanet:93336 Orphanet:377791 obsolete morphological anomaly +MONDO:0008271 polydactyly of an index finger MONDO:0034669 Orphanet:93337 Orphanet:498464 obsolete non-syndromic preaxial polydactyly +MONDO:0008271 polydactyly of an index finger MONDO:8000030 Orphanet:93337 Orphanet:377791 obsolete morphological anomaly +MONDO:0008272 polysyndactyly 4 MONDO:0034669 Orphanet:93338 Orphanet:498464 obsolete non-syndromic preaxial polydactyly +MONDO:0008272 polysyndactyly 4 MONDO:8000030 Orphanet:93338 Orphanet:377791 obsolete morphological anomaly +MONDO:0008273 actinic prurigo MONDO:0019304 Orphanet:330061 Orphanet:79390 obsolete rare photodermatosis +MONDO:0008274 polyostotic fibrous dysplasia MONDO:8000031 Orphanet:93276 Orphanet:557494 obsolete subtype of a disorder +MONDO:0008276 generalized juvenile polyposis/juvenile polyposis coli MONDO:8000031 Orphanet:329971 Orphanet:557494 obsolete subtype of a disorder +MONDO:0008280 Peutz-Jeghers syndrome MONDO:0015945 Orphanet:2869 Orphanet:183422 obsolete polymalformative genetic syndrome with increased risk of developing cancer +MONDO:0008280 Peutz-Jeghers syndrome MONDO:0017128 Orphanet:2869 Orphanet:271835 obsolete inherited digestive tract tumor +MONDO:0008280 Peutz-Jeghers syndrome MONDO:0018188 Orphanet:2869 Orphanet:363314 obsolete hereditary intestinal polyposis +MONDO:0008280 Peutz-Jeghers syndrome MONDO:0020063 Orphanet:2869 Orphanet:98196 obsolete malformation syndrome with hamartosis +MONDO:0008280 Peutz-Jeghers syndrome MONDO:0035645 Orphanet:2869 Orphanet:589746 obsolete inherited gynecological cancer-predisposing syndrome +MONDO:0008286 crossed polysyndactyly MONDO:0017434 Orphanet:2935 Orphanet:294959 obsolete syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy +MONDO:0008286 crossed polysyndactyly MONDO:8000032 Orphanet:2935 Orphanet:377789 obsolete malformation syndrome +MONDO:0008287 Greig cephalopolysyndactyly syndrome MONDO:0017434 Orphanet:380 Orphanet:294959 obsolete syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy +MONDO:0008287 Greig cephalopolysyndactyly syndrome MONDO:0043008 Orphanet:380 Orphanet:330206 obsolete genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability +MONDO:0008287 Greig cephalopolysyndactyly syndrome MONDO:8000032 Orphanet:380 Orphanet:377789 obsolete malformation syndrome +MONDO:0008289 brain small vessel disease 1 with or without ocular anomalies MONDO:0018790 Orphanet:36383 Orphanet:477765 obsolete COL4A1 or COL4A2-related cerebral small vessel disease with hemorrhagic tendancy +MONDO:0008291 porokeratosis plantaris palmaris et disseminata MONDO:0016518 Orphanet:737 Orphanet:2338 obsolete isolated punctate palmoplantar keratoderma +MONDO:0008291 porokeratosis plantaris palmaris et disseminata MONDO:0026152 Orphanet:737 Orphanet:183444 obsolete genetic porokeratosis +MONDO:0008292 punctate palmoplantar keratoderma type 2 MONDO:0016518 Orphanet:79502 Orphanet:2338 obsolete isolated punctate palmoplantar keratoderma +MONDO:0008295 sporadic porphyria cutanea tarda MONDO:8000031 Orphanet:443057 Orphanet:557494 obsolete subtype of a disorder +MONDO:0008296 familial porphyria cutanea tarda MONDO:8000031 Orphanet:443062 Orphanet:557494 obsolete subtype of a disorder +MONDO:0008298 postaxial tetramelic oligodactyly MONDO:0017432 Orphanet:2730 Orphanet:294955 obsolete syndrome with limb reduction defects +MONDO:0008298 postaxial tetramelic oligodactyly MONDO:8000032 Orphanet:2730 Orphanet:377789 obsolete malformation syndrome +MONDO:0008300 Prader-Willi syndrome MONDO:0015890 Orphanet:739 Orphanet:181387 obsolete rare disorder with congenital hypogonadotropic hypogonadism +MONDO:0008300 Prader-Willi syndrome MONDO:0016565 Orphanet:739 Orphanet:240371 obsolete syndromic genetic obesity +MONDO:0008300 Prader-Willi syndrome MONDO:0020016 Orphanet:739 Orphanet:98033 obsolete rare neurologic disease with psychiatric involvement +MONDO:0008300 Prader-Willi syndrome MONDO:0032221 Orphanet:739 Orphanet:399846 obsolete rare disorder with female infertility due to a congenital hypogonadotropic hypogonadism +MONDO:0008300 Prader-Willi syndrome MONDO:0035863 Orphanet:739 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0008301 Guttmacher syndrome MONDO:0015620 Orphanet:2957 Orphanet:165707 obsolete syndromic urogenital tract malformation +MONDO:0008301 Guttmacher syndrome MONDO:0017434 Orphanet:2957 Orphanet:294959 obsolete syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy +MONDO:0008301 Guttmacher syndrome MONDO:8000032 Orphanet:2957 Orphanet:377789 obsolete malformation syndrome +MONDO:0008305 Currarino triad MONDO:0015246 Orphanet:1552 Orphanet:117573 obsolete syndromic anorectal malformation +MONDO:0008305 Currarino triad MONDO:0015846 Orphanet:1552 Orphanet:180148 obsolete syndromic uterovaginal malformation +MONDO:0008305 Currarino triad MONDO:0019711 Orphanet:1552 Orphanet:93454 obsolete dysostosis with predominant vertebral and costal involvement +MONDO:0008305 Currarino triad MONDO:8000032 Orphanet:1552 Orphanet:377789 obsolete malformation syndrome +MONDO:0008306 ABri amyloidosis MONDO:8000031 Orphanet:97345 Orphanet:557494 obsolete subtype of a disorder +MONDO:0008310 Hutchinson-Gilford progeria syndrome MONDO:0015331 Orphanet:740 Orphanet:139027 obsolete malformation syndrome with skin/mucosae involvement +MONDO:0008310 Hutchinson-Gilford progeria syndrome MONDO:0029813 Orphanet:740 Orphanet:300766 obsolete laminopathy with premature aging +MONDO:0008310 Hutchinson-Gilford progeria syndrome MONDO:0031689 Orphanet:740 Orphanet:363245 obsolete genetic progeroid syndrome +MONDO:0008311 progeria-short stature-pigmented nevi syndrome MONDO:0015331 Orphanet:2959 Orphanet:139027 obsolete malformation syndrome with skin/mucosae involvement +MONDO:0008311 progeria-short stature-pigmented nevi syndrome MONDO:0031689 Orphanet:2959 Orphanet:363245 obsolete genetic progeroid syndrome +MONDO:0008311 progeria-short stature-pigmented nevi syndrome MONDO:8000032 Orphanet:2959 Orphanet:377789 obsolete malformation syndrome +MONDO:0008312 autosomal dominant prognathism MONDO:0043008 Orphanet:2964 Orphanet:330206 obsolete genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability +MONDO:0008312 autosomal dominant prognathism MONDO:8000032 Orphanet:2964 Orphanet:377789 obsolete malformation syndrome +MONDO:0008318 Proteus syndrome MONDO:0015501 Orphanet:744 Orphanet:156237 obsolete syndrome or malformation associated with head and neck malformations +MONDO:0008318 Proteus syndrome MONDO:0015651 Orphanet:744 Orphanet:166466 obsolete neurocutaneous syndrome with epilepsy +MONDO:0008318 Proteus syndrome MONDO:0016235 Orphanet:744 Orphanet:211277 obsolete complex vascular malformation with associated anomalies +MONDO:0008318 Proteus syndrome MONDO:0017414 Orphanet:744 Orphanet:294057 obsolete rare nevus +MONDO:0008318 Proteus syndrome MONDO:0033927 Orphanet:744 Orphanet:459537 obsolete genetic complex vascular malformation with associated anomalies +MONDO:0008318 Proteus syndrome MONDO:0800091 Orphanet:744 Orphanet:498448 obsolete overgrowth or tall stature syndrome with skeletal involvement +MONDO:0008318 Proteus syndrome MONDO:8000032 Orphanet:744 Orphanet:377789 obsolete malformation syndrome +MONDO:0008322 pseudoachondroplasia MONDO:0019692 Orphanet:750 Orphanet:93429 obsolete multiple epiphyseal dysplasia and pseudoachondroplasia +MONDO:0008323 Liddle syndrome MONDO:0015512 Orphanet:526 Orphanet:156629 obsolete genetic hypertension +MONDO:0008329 autosomal dominant pseudohypoaldosteronism type 1 MONDO:8000031 Orphanet:171871 Orphanet:557494 obsolete subtype of a disorder +MONDO:0008332 platelet-type von Willebrand disease MONDO:0017142 Orphanet:52530 Orphanet:275736 obsolete hemorrhagic disorder due to a qualitative platelet defect +MONDO:0008335 short stature-craniofacial anomalies-genital hypoplasia syndrome MONDO:0043008 Orphanet:2994 Orphanet:330206 obsolete genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability +MONDO:0008335 short stature-craniofacial anomalies-genital hypoplasia syndrome MONDO:8000032 Orphanet:2994 Orphanet:377789 obsolete malformation syndrome +MONDO:0008337 familial pterygium of the conjunctiva MONDO:0020198 Orphanet:2989 Orphanet:98610 obsolete rare conjunctival disease +MONDO:0008337 familial pterygium of the conjunctiva MONDO:8000030 Orphanet:2989 Orphanet:377791 obsolete morphological anomaly +MONDO:0008338 contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A MONDO:8000032 Orphanet:65743 Orphanet:377789 obsolete malformation syndrome +MONDO:0008339 antecubital pterygium syndrome MONDO:0018798 Orphanet:2987 Orphanet:477808 obsolete other genetic dermis disorder +MONDO:0008339 antecubital pterygium syndrome MONDO:8000032 Orphanet:2987 Orphanet:377789 obsolete malformation syndrome +MONDO:0008340 ptosis, hereditary congenital, 1 MONDO:0020169 Orphanet:91411 Orphanet:98578 obsolete rare disorder with ptosis +MONDO:0008341 ptosis-strabismus-ectopic pupils syndrome MONDO:0020169 Orphanet:2999 Orphanet:98578 obsolete rare disorder with ptosis +MONDO:0008341 ptosis-strabismus-ectopic pupils syndrome MONDO:0020253 Orphanet:2999 Orphanet:98683 obsolete syndrome with a symptomatic strabismus +MONDO:0008341 ptosis-strabismus-ectopic pupils syndrome MONDO:8000032 Orphanet:2999 Orphanet:377789 obsolete malformation syndrome +MONDO:0008343 pulmonary atresia with ventricular septal defect MONDO:8000030 Orphanet:1207 Orphanet:377791 obsolete morphological anomaly +MONDO:0008346 pulmonary hemosiderosis MONDO:0017031 Orphanet:99931 Orphanet:264762 obsolete primary interstitial lung disease in childhood and adulthood MONDO:0008347 obsolete idiopathic and/or familial pulmonary arterial hypertension MONDO:0000001 Orphanet:422 Orphanet:377788 disease +MONDO:0008347 obsolete idiopathic and/or familial pulmonary arterial hypertension MONDO:0015510 Orphanet:422 Orphanet:156610 obsolete rare genetic respiratory disease +MONDO:0008347 obsolete idiopathic and/or familial pulmonary arterial hypertension MONDO:0015924 Orphanet:422 Orphanet:182090 pulmonary arterial hypertension +MONDO:0008348 pulmonary nodular lymphoid hyperplasia MONDO:0015118 Orphanet:60026 Orphanet:101944 obsolete rare pulmonary disease +MONDO:0008353 pruritic urticarial papules and plaques of pregnancy MONDO:0015582 Orphanet:64745 Orphanet:163637 obsolete rare disorder related with pregnancy, childbirth and puerperium +MONDO:0008353 pruritic urticarial papules and plaques of pregnancy MONDO:0019298 Orphanet:64745 Orphanet:79384 obsolete rare urticaria +MONDO:0008357 radial hypoplasia-triphalangeal thumbs-hypospadias-maxillary diastema syndrome MONDO:0015620 Orphanet:2252 Orphanet:165707 obsolete syndromic urogenital tract malformation +MONDO:0008357 radial hypoplasia-triphalangeal thumbs-hypospadias-maxillary diastema syndrome MONDO:0043008 Orphanet:2252 Orphanet:330206 obsolete genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability +MONDO:0008357 radial hypoplasia-triphalangeal thumbs-hypospadias-maxillary diastema syndrome MONDO:8000032 Orphanet:2252 Orphanet:377789 obsolete malformation syndrome +MONDO:0008358 radial ray hypoplasia-choanal atresia syndrome MONDO:0015503 Orphanet:3026 Orphanet:156246 obsolete nose and cavum anomaly +MONDO:0008358 radial ray hypoplasia-choanal atresia syndrome MONDO:0020253 Orphanet:3026 Orphanet:98683 obsolete syndrome with a symptomatic strabismus +MONDO:0008358 radial ray hypoplasia-choanal atresia syndrome MONDO:0033334 Orphanet:3026 Orphanet:435606 obsolete genetic nose and cavum anomaly +MONDO:0008358 radial ray hypoplasia-choanal atresia syndrome MONDO:8000032 Orphanet:3026 Orphanet:377789 obsolete malformation syndrome +MONDO:0008359 radio-renal syndrome MONDO:0017432 Orphanet:3015 Orphanet:294955 obsolete syndrome with limb reduction defects +MONDO:0008359 radio-renal syndrome MONDO:8000032 Orphanet:3015 Orphanet:377789 obsolete malformation syndrome +MONDO:0008365 recombinant 8 syndrome MONDO:0016998 Orphanet:96167 Orphanet:263708 obsolete complex chromosomal rearrangement +MONDO:0008365 recombinant 8 syndrome MONDO:8000032 Orphanet:96167 Orphanet:377789 obsolete malformation syndrome +MONDO:0008368 autosomal dominant distal renal tubular acidosis MONDO:8000031 Orphanet:93608 Orphanet:557494 obsolete subtype of a disorder +MONDO:0008369 proximal renal tubular acidosis MONDO:0017828 Orphanet:47159 Orphanet:314822 obsolete primary renal tubular acidosis +MONDO:0008371 Dowling-Degos disease MONDO:0018293 Orphanet:79145 Orphanet:371200 obsolete congenital disorder of glycosylation with skin involvement +MONDO:0008373 retinal arterial tortuosity MONDO:0018790 Orphanet:75326 Orphanet:477765 obsolete COL4A1 or COL4A2-related cerebral small vessel disease with hemorrhagic tendancy +MONDO:0008380 retinoblastoma MONDO:0015121 Orphanet:790 Orphanet:101950 obsolete rare eye tumor +MONDO:0008387 ring dermoid of cornea MONDO:0015121 Orphanet:91481 Orphanet:101950 obsolete rare eye tumor +MONDO:0008387 ring dermoid of cornea MONDO:0015966 Orphanet:91481 Orphanet:183619 obsolete hereditary eye tumor +MONDO:0008388 ringed hair disease MONDO:0019281 Orphanet:169 Orphanet:79366 obsolete isolated genetic hair shaft abnormality +MONDO:0008389 autosomal dominant Robinow syndrome MONDO:8000031 Orphanet:3107 Orphanet:557494 obsolete subtype of a disorder +MONDO:0008390 Rombo syndrome MONDO:0015950 Orphanet:3110 Orphanet:183487 obsolete inherited skin tumor +MONDO:0008390 Rombo syndrome MONDO:0019300 Orphanet:3110 Orphanet:79386 obsolete rare skin tumor or hamartoma +MONDO:0008392 Roussy-Levy syndrome MONDO:0015359 Orphanet:3115 Orphanet:140453 obsolete autosomal dominant hereditary demyelinating motor and sensory neuropathy +MONDO:0008393 Rubinstein-Taybi syndrome due to CREBBP mutations MONDO:8000031 Orphanet:353277 Orphanet:557494 obsolete subtype of a disorder +MONDO:0008394 Silver-Russell syndrome MONDO:0015329 Orphanet:813 Orphanet:139021 obsolete malformation syndrome with short stature +MONDO:0008394 Silver-Russell syndrome MONDO:0015945 Orphanet:813 Orphanet:183422 obsolete polymalformative genetic syndrome with increased risk of developing cancer +MONDO:0008394 Silver-Russell syndrome MONDO:0026187 Orphanet:813 Orphanet:183570 obsolete genetic malformation syndrome with short stature +MONDO:0008394 Silver-Russell syndrome MONDO:0035863 Orphanet:813 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0008395 Ruvalcaba syndrome MONDO:0035863 Orphanet:3121 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0008395 Ruvalcaba syndrome MONDO:8000032 Orphanet:3121 Orphanet:377789 obsolete malformation syndrome +MONDO:0008396 oculodental syndrome, Rutherfurd type MONDO:0015336 Orphanet:2709 Orphanet:139042 obsolete malformation syndrome with odontal and/or periodontal component +MONDO:0008396 oculodental syndrome, Rutherfurd type MONDO:0020215 Orphanet:2709 Orphanet:98628 obsolete syndromic corneal dystrophy +MONDO:0008396 oculodental syndrome, Rutherfurd type MONDO:0026190 Orphanet:2709 Orphanet:183580 obsolete genetic malformation syndrome with odontal and/or periodontal component +MONDO:0008396 oculodental syndrome, Rutherfurd type MONDO:8000032 Orphanet:2709 Orphanet:377789 obsolete malformation syndrome +MONDO:0008397 aplasia of lacrimal and salivary glands MONDO:0020194 Orphanet:86815 Orphanet:98604 obsolete congenital alacrima +MONDO:0008401 pleomorphic adenoma MONDO:8000031 Orphanet:454821 Orphanet:557494 obsolete subtype of a disorder +MONDO:0008402 cleft palate-large ears-small head syndrome MONDO:0015335 Orphanet:2013 Orphanet:139039 obsolete Mendelian syndromes with cleft lip/palate +MONDO:0008402 cleft palate-large ears-small head syndrome MONDO:8000032 Orphanet:2013 Orphanet:377789 obsolete malformation syndrome +MONDO:0008403 scalp defects-postaxial polydactyly syndrome MONDO:0017434 Orphanet:1003 Orphanet:294959 obsolete syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy +MONDO:0008403 scalp defects-postaxial polydactyly syndrome MONDO:0957001 Orphanet:1003 Orphanet:183481 obsolete hereditary mixed dermis disorder +MONDO:0008403 scalp defects-postaxial polydactyly syndrome MONDO:8000032 Orphanet:1003 Orphanet:377789 obsolete malformation syndrome +MONDO:0008404 scalp-ear-nipple syndrome MONDO:0015853 Orphanet:2036 Orphanet:180173 obsolete deficient breast volume or number +MONDO:0008404 scalp-ear-nipple syndrome MONDO:0020225 Orphanet:2036 Orphanet:98641 obsolete syndromic cataract +MONDO:0008404 scalp-ear-nipple syndrome MONDO:0043008 Orphanet:2036 Orphanet:330206 obsolete genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability +MONDO:0008404 scalp-ear-nipple syndrome MONDO:0957001 Orphanet:2036 Orphanet:183481 obsolete hereditary mixed dermis disorder +MONDO:0008404 scalp-ear-nipple syndrome MONDO:8000032 Orphanet:2036 Orphanet:377789 obsolete malformation syndrome +MONDO:0008406 obsolete autosomal recessive Emery-Dreifuss muscular dystrophy MONDO:0016830 Orphanet:98855 Orphanet:261 Emery-Dreifuss muscular dystrophy +MONDO:0008406 obsolete autosomal recessive Emery-Dreifuss muscular dystrophy MONDO:0029810 Orphanet:98855 Orphanet:300755 obsolete laminopathy with striated muscle involvement +MONDO:0008406 obsolete autosomal recessive Emery-Dreifuss muscular dystrophy MONDO:8000031 Orphanet:98855 Orphanet:557494 obsolete subtype of a disorder +MONDO:0008409 congenital myopathy 7A, myosin storage, autosomal dominant MONDO:8000031 Orphanet:636965 Orphanet:557494 obsolete subtype of a disorder +MONDO:0008411 ulnar-mammary syndrome MONDO:0015246 Orphanet:3138 Orphanet:117573 obsolete syndromic anorectal malformation +MONDO:0008411 ulnar-mammary syndrome MONDO:0015853 Orphanet:3138 Orphanet:180173 obsolete deficient breast volume or number +MONDO:0008411 ulnar-mammary syndrome MONDO:0017432 Orphanet:3138 Orphanet:294955 obsolete syndrome with limb reduction defects +MONDO:0008411 ulnar-mammary syndrome MONDO:0035863 Orphanet:3138 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0008411 ulnar-mammary syndrome MONDO:8000032 Orphanet:3138 Orphanet:377789 obsolete malformation syndrome +MONDO:0008416 palmoplantar keratoderma-sclerodactyly syndrome MONDO:0020094 Orphanet:384 Orphanet:98352 obsolete autosomal dominant disease with diffuse palmoplantar keratoderma as a major feature +MONDO:0008421 flat face-microstomia-ear anomaly syndrome MONDO:0043008 Orphanet:1968 Orphanet:330206 obsolete genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability +MONDO:0008421 flat face-microstomia-ear anomaly syndrome MONDO:8000032 Orphanet:1968 Orphanet:377789 obsolete malformation syndrome +MONDO:0008425 omphalocele syndrome, Shprintzen-Goldberg type MONDO:0015216 Orphanet:3164 Orphanet:108979 obsolete syndromic diaphragmatic or abdominal wall malformation +MONDO:0008425 omphalocele syndrome, Shprintzen-Goldberg type MONDO:0035863 Orphanet:3164 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0008425 omphalocele syndrome, Shprintzen-Goldberg type MONDO:8000032 Orphanet:3164 Orphanet:377789 obsolete malformation syndrome +MONDO:0008426 Shprintzen-Goldberg syndrome MONDO:0035863 Orphanet:2462 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0008426 Shprintzen-Goldberg syndrome MONDO:8000032 Orphanet:2462 Orphanet:377789 obsolete malformation syndrome +MONDO:0008428 septooptic dysplasia MONDO:0015310 Orphanet:3157 Orphanet:137905 obsolete syndromic optic nerve hypoplasia +MONDO:0008428 septooptic dysplasia MONDO:0017120 Orphanet:3157 Orphanet:269531 obsolete other syndrome with a central nervous system malformation as major feature +MONDO:0008428 septooptic dysplasia MONDO:0018609 Orphanet:3157 Orphanet:441434 obsolete syndromic hereditary optic neuropathy +MONDO:0008428 septooptic dysplasia MONDO:0019827 Orphanet:3157 Orphanet:95495 obsolete disease associated with non-acquired combined pituitary hormone deficiency +MONDO:0008428 septooptic dysplasia MONDO:0035862 Orphanet:3157 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome +MONDO:0008428 septooptic dysplasia MONDO:8000032 Orphanet:3157 Orphanet:377789 obsolete malformation syndrome +MONDO:0008429 Singleton-Merten dysplasia MONDO:0015710 Orphanet:85191 Orphanet:169361 obsolete immune dysregulation disease with immunodeficiency +MONDO:0008429 Singleton-Merten dysplasia MONDO:0018782 Orphanet:85191 Orphanet:477647 obsolete type 1 interferonopathy +MONDO:0008429 Singleton-Merten dysplasia MONDO:0019704 Orphanet:85191 Orphanet:93446 obsolete primary bone dysplasia with decreased bone density +MONDO:0008429 Singleton-Merten dysplasia MONDO:8000032 Orphanet:85191 Orphanet:377789 obsolete malformation syndrome +MONDO:0008433 small cell lung carcinoma MONDO:0015119 Orphanet:70573 Orphanet:101945 obsolete bronchopulmonary tumor +MONDO:0008434 Smith-Magenis syndrome MONDO:0015878 Orphanet:819 Orphanet:180772 obsolete rare disease with autism +MONDO:0008434 Smith-Magenis syndrome MONDO:0016565 Orphanet:819 Orphanet:240371 obsolete syndromic genetic obesity +MONDO:0008434 Smith-Magenis syndrome MONDO:0035863 Orphanet:819 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0008434 Smith-Magenis syndrome MONDO:8000032 Orphanet:819 Orphanet:377789 obsolete malformation syndrome +MONDO:0008436 Sneddon syndrome MONDO:0015939 Orphanet:820 Orphanet:182228 obsolete systemic autoimmune disease +MONDO:0008436 Sneddon syndrome MONDO:0016517 Orphanet:820 Orphanet:233655 obsolete rare genetic vascular disease +MONDO:0008436 Sneddon syndrome MONDO:0019110 Orphanet:820 Orphanet:71281 obsolete rare central nervous system or retinal vascular disease +MONDO:0008436 Sneddon syndrome MONDO:0019546 Orphanet:820 Orphanet:90077 obsolete other acquired skin disease +MONDO:0008437 hereditary spastic paraplegia 3A MONDO:0017914 Orphanet:100984 Orphanet:320342 obsolete pure or complex autosomal dominant spastic paraplegia +MONDO:0008438 hereditary spastic paraplegia 4 MONDO:0017914 Orphanet:100985 Orphanet:320342 obsolete pure or complex autosomal dominant spastic paraplegia +MONDO:0008440 spastic paraplegia-nephritis-deafness syndrome MONDO:0019589 Orphanet:2820 Orphanet:90642 obsolete syndromic genetic hearing loss +MONDO:0008440 spastic paraplegia-nephritis-deafness syndrome MONDO:0019721 Orphanet:2820 Orphanet:93547 obsolete syndromic renal or urinary tract malformation +MONDO:0008440 spastic paraplegia-nephritis-deafness syndrome MONDO:0032013 Orphanet:2820 Orphanet:377792 obsolete clinical syndrome +MONDO:0008445 delayed speech-facial asymmetry-strabismus-ear lobe creases syndrome MONDO:0020253 Orphanet:3038 Orphanet:98683 obsolete syndrome with a symptomatic strabismus +MONDO:0008445 delayed speech-facial asymmetry-strabismus-ear lobe creases syndrome MONDO:0035863 Orphanet:3038 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0008445 delayed speech-facial asymmetry-strabismus-ear lobe creases syndrome MONDO:8000032 Orphanet:3038 Orphanet:377789 obsolete malformation syndrome +MONDO:0008453 adult-onset proximal spinal muscular atrophy, autosomal dominant MONDO:0016224 Orphanet:209335 Orphanet:211037 obsolete autosomal dominant proximal spinal muscular atrophy +MONDO:0008458 spinocerebellar ataxia type 2 MONDO:0034961 Orphanet:98756 Orphanet:519341 obsolete rare brainstem or cerebellar disorder with ophthalmic involvement as a major feature +MONDO:0008460 splenogonadal fusion-limb defects-micrognathia syndrome MONDO:0015214 Orphanet:2063 Orphanet:108973 obsolete syndromic visceral malformation +MONDO:0008460 splenogonadal fusion-limb defects-micrognathia syndrome MONDO:0015334 Orphanet:2063 Orphanet:139036 obsolete branchial arch or oral-acral syndrome +MONDO:0008460 splenogonadal fusion-limb defects-micrognathia syndrome MONDO:0017432 Orphanet:2063 Orphanet:294955 obsolete syndrome with limb reduction defects +MONDO:0008460 splenogonadal fusion-limb defects-micrognathia syndrome MONDO:0026189 Orphanet:2063 Orphanet:183576 obsolete genetic branchial arch or oral-acral syndrome +MONDO:0008460 splenogonadal fusion-limb defects-micrognathia syndrome MONDO:8000032 Orphanet:2063 Orphanet:377789 obsolete malformation syndrome +MONDO:0008465 Patterson-Stevenson-Fontaine syndrome MONDO:0015334 Orphanet:2439 Orphanet:139036 obsolete branchial arch or oral-acral syndrome +MONDO:0008465 Patterson-Stevenson-Fontaine syndrome MONDO:0026189 Orphanet:2439 Orphanet:183576 obsolete genetic branchial arch or oral-acral syndrome +MONDO:0008465 Patterson-Stevenson-Fontaine syndrome MONDO:0800090 Orphanet:2439 Orphanet:498477 obsolete ectrodactyly with and without other manifestations +MONDO:0008465 Patterson-Stevenson-Fontaine syndrome MONDO:8000032 Orphanet:2439 Orphanet:377789 obsolete malformation syndrome +MONDO:0008466 Karsch-Neugebauer syndrome MONDO:0017432 Orphanet:2329 Orphanet:294955 obsolete syndrome with limb reduction defects +MONDO:0008466 Karsch-Neugebauer syndrome MONDO:8000032 Orphanet:2329 Orphanet:377789 obsolete malformation syndrome +MONDO:0008467 Czeizel-Losonci syndrome MONDO:0015620 Orphanet:2437 Orphanet:165707 obsolete syndromic urogenital tract malformation +MONDO:0008467 Czeizel-Losonci syndrome MONDO:0043008 Orphanet:2437 Orphanet:330206 obsolete genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability +MONDO:0008467 Czeizel-Losonci syndrome MONDO:8000032 Orphanet:2437 Orphanet:377789 obsolete malformation syndrome +MONDO:0008472 spondyloepiphyseal dysplasia, MacDermot type MONDO:0019589 Orphanet:163668 Orphanet:90642 obsolete syndromic genetic hearing loss +MONDO:0008472 spondyloepiphyseal dysplasia, MacDermot type MONDO:8000032 Orphanet:163668 Orphanet:377789 obsolete malformation syndrome +MONDO:0008482 Sprengel deformity MONDO:8000030 Orphanet:3181 Orphanet:377791 obsolete morphological anomaly +MONDO:0008484 stapes ankylosis with broad thumbs and toes MONDO:0019589 Orphanet:140917 Orphanet:90642 obsolete syndromic genetic hearing loss +MONDO:0008484 stapes ankylosis with broad thumbs and toes MONDO:8000032 Orphanet:140917 Orphanet:377789 obsolete malformation syndrome +MONDO:0008485 sebocystomatosis MONDO:0019286 Orphanet:841 Orphanet:79372 obsolete sebaceous gland anomaly +MONDO:0008486 steatocystoma multiplex-natal teeth syndrome MONDO:0015336 Orphanet:3184 Orphanet:139042 obsolete malformation syndrome with odontal and/or periodontal component +MONDO:0008486 steatocystoma multiplex-natal teeth syndrome MONDO:0019286 Orphanet:3184 Orphanet:79372 obsolete sebaceous gland anomaly +MONDO:0008486 steatocystoma multiplex-natal teeth syndrome MONDO:0026190 Orphanet:3184 Orphanet:183580 obsolete genetic malformation syndrome with odontal and/or periodontal component +MONDO:0008486 steatocystoma multiplex-natal teeth syndrome MONDO:8000032 Orphanet:3184 Orphanet:377789 obsolete malformation syndrome +MONDO:0008488 holoprosencephaly-radial heart renal anomalies syndrome MONDO:0019721 Orphanet:3186 Orphanet:93547 obsolete syndromic renal or urinary tract malformation +MONDO:0008488 holoprosencephaly-radial heart renal anomalies syndrome MONDO:0035863 Orphanet:3186 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0008488 holoprosencephaly-radial heart renal anomalies syndrome MONDO:8000032 Orphanet:3186 Orphanet:377789 obsolete malformation syndrome +MONDO:0008490 otospondylomegaepiphyseal dysplasia, autosomal dominant MONDO:0015335 Orphanet:166100 Orphanet:139039 obsolete Mendelian syndromes with cleft lip/palate +MONDO:0008490 otospondylomegaepiphyseal dysplasia, autosomal dominant MONDO:0019589 Orphanet:166100 Orphanet:90642 obsolete syndromic genetic hearing loss +MONDO:0008490 otospondylomegaepiphyseal dysplasia, autosomal dominant MONDO:0024145 Orphanet:166100 Orphanet:138041 obsolete Pierre Robin syndrome associated with collagen disease +MONDO:0008490 otospondylomegaepiphyseal dysplasia, autosomal dominant MONDO:0043008 Orphanet:166100 Orphanet:330206 obsolete genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability +MONDO:0008490 otospondylomegaepiphyseal dysplasia, autosomal dominant MONDO:0800087 Orphanet:166100 Orphanet:93422 obsolete type 11 collagen-related bone disorder +MONDO:0008490 otospondylomegaepiphyseal dysplasia, autosomal dominant MONDO:8000032 Orphanet:166100 Orphanet:377789 obsolete malformation syndrome +MONDO:0008491 stiff-person syndrome MONDO:0015143 Orphanet:3198 Orphanet:102003 obsolete rare movement disorder +MONDO:0008491 stiff-person syndrome MONDO:0015888 Orphanet:3198 Orphanet:181381 obsolete other rare diabetes mellitus +MONDO:0008491 stiff-person syndrome MONDO:0015916 Orphanet:3198 Orphanet:182064 obsolete rare neuroinflammatory or neuroimmunological disease +MONDO:0008492 stiff skin syndrome MONDO:0019299 Orphanet:2833 Orphanet:79385 obsolete unclassified genetic skin disorder +MONDO:0008497 Stormorken syndrome MONDO:0035862 Orphanet:3204 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome +MONDO:0008499 short stature-wormian bones-dextrocardia syndrome MONDO:0035863 Orphanet:2863 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0008499 short stature-wormian bones-dextrocardia syndrome MONDO:8000032 Orphanet:2863 Orphanet:377789 obsolete malformation syndrome +MONDO:0008501 Sturge-Weber syndrome MONDO:0015145 Orphanet:3205 Orphanet:102006 obsolete neurovascular malformation +MONDO:0008501 Sturge-Weber syndrome MONDO:0015501 Orphanet:3205 Orphanet:156237 obsolete syndrome or malformation associated with head and neck malformations +MONDO:0008501 Sturge-Weber syndrome MONDO:0015651 Orphanet:3205 Orphanet:166466 obsolete neurocutaneous syndrome with epilepsy +MONDO:0008501 Sturge-Weber syndrome MONDO:0015658 Orphanet:3205 Orphanet:166487 obsolete cerebral diseases of vascular origin with epilepsy +MONDO:0008501 Sturge-Weber syndrome MONDO:0018719 Orphanet:3205 Orphanet:458830 obsolete obsolete rare capillary malformation with associated anomalies +MONDO:0008501 Sturge-Weber syndrome MONDO:0020063 Orphanet:3205 Orphanet:98196 obsolete malformation syndrome with hamartosis +MONDO:0008501 Sturge-Weber syndrome MONDO:0020222 Orphanet:3205 Orphanet:98638 obsolete rare disease with glaucoma as a major feature +MONDO:0008501 Sturge-Weber syndrome MONDO:0035862 Orphanet:3205 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome +MONDO:0008501 Sturge-Weber syndrome MONDO:8000032 Orphanet:3205 Orphanet:377789 obsolete malformation syndrome +MONDO:0008503 Worster-Drought syndrome MONDO:0020009 Orphanet:3465 Orphanet:98006 obsolete rare neurologic disease +MONDO:0008503 Worster-Drought syndrome MONDO:8000032 Orphanet:3465 Orphanet:377789 obsolete malformation syndrome +MONDO:0008504 supravalvular aortic stenosis MONDO:0017131 Orphanet:3193 Orphanet:271853 obsolete hereditary cardiac anomaly +MONDO:0008504 supravalvular aortic stenosis MONDO:0020286 Orphanet:3193 Orphanet:98718 obsolete aortic malformation +MONDO:0008504 supravalvular aortic stenosis MONDO:8000030 Orphanet:3193 Orphanet:377791 obsolete morphological anomaly +MONDO:0008509 distal symphalangism MONDO:0017429 Orphanet:3248 Orphanet:294949 obsolete joint formation defects +MONDO:0008509 distal symphalangism MONDO:8000030 Orphanet:3248 Orphanet:377791 obsolete morphological anomaly +MONDO:0008510 symphalangism with multiple anomalies of hands and feet MONDO:0017434 Orphanet:3246 Orphanet:294959 obsolete syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy +MONDO:0008510 symphalangism with multiple anomalies of hands and feet MONDO:0800095 Orphanet:3246 Orphanet:93459 obsolete syndrome with synostosis or other joint formation defect +MONDO:0008510 symphalangism with multiple anomalies of hands and feet MONDO:8000032 Orphanet:3246 Orphanet:377789 obsolete malformation syndrome +MONDO:0008511 proximal symphalangism MONDO:0800095 Orphanet:3250 Orphanet:93459 obsolete syndrome with synostosis or other joint formation defect +MONDO:0008511 proximal symphalangism MONDO:8000032 Orphanet:3250 Orphanet:377789 obsolete malformation syndrome +MONDO:0008512 syndactyly type 1 MONDO:8000030 Orphanet:93402 Orphanet:377791 obsolete morphological anomaly +MONDO:0008513 synpolydactyly type 1 MONDO:8000031 Orphanet:295195 Orphanet:557494 obsolete subtype of a disorder +MONDO:0008514 syndactyly type 3 MONDO:8000030 Orphanet:93404 Orphanet:377791 obsolete morphological anomaly +MONDO:0008515 syndactyly type 4 MONDO:8000030 Orphanet:93405 Orphanet:377791 obsolete morphological anomaly +MONDO:0008516 syndactyly type 5 MONDO:8000030 Orphanet:93406 Orphanet:377791 obsolete morphological anomaly +MONDO:0008517 syndactyly-polydactyly-ear lobe syndrome MONDO:0017434 Orphanet:3259 Orphanet:294959 obsolete syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy +MONDO:0008517 syndactyly-polydactyly-ear lobe syndrome MONDO:8000032 Orphanet:3259 Orphanet:377789 obsolete malformation syndrome +MONDO:0008520 brachydactyly-elbow wrist dysplasia syndrome MONDO:0800093 Orphanet:1275 Orphanet:498451 obsolete dysostosis with brachydactyly without extraskeletal manifestations +MONDO:0008520 brachydactyly-elbow wrist dysplasia syndrome MONDO:0800095 Orphanet:1275 Orphanet:93459 obsolete syndrome with synostosis or other joint formation defect +MONDO:0008520 brachydactyly-elbow wrist dysplasia syndrome MONDO:8000032 Orphanet:1275 Orphanet:377789 obsolete malformation syndrome +MONDO:0008521 tarsal-carpal coalition syndrome MONDO:0800095 Orphanet:1412 Orphanet:93459 obsolete syndrome with synostosis or other joint formation defect +MONDO:0008521 tarsal-carpal coalition syndrome MONDO:8000032 Orphanet:1412 Orphanet:377789 obsolete malformation syndrome +MONDO:0008523 Blau syndrome MONDO:0017023 Orphanet:90340 Orphanet:264714 obsolete secondary interstitial lung disease specific to childhood associated with a granulomatous disease +MONDO:0008523 Blau syndrome MONDO:0017259 Orphanet:90340 Orphanet:280926 obsolete systemic diseases with anterior uveitis +MONDO:0008523 Blau syndrome MONDO:0017261 Orphanet:90340 Orphanet:280933 obsolete systemic diseases with panuveitis +MONDO:0008523 Blau syndrome MONDO:0017369 Orphanet:90340 Orphanet:290839 obsolete autoinflammatory syndrome with immune deficiency +MONDO:0008523 Blau syndrome MONDO:0017370 Orphanet:90340 Orphanet:290842 obsolete autoinflammatory syndrome with skin involvement +MONDO:0008523 Blau syndrome MONDO:0017955 Orphanet:90340 Orphanet:324930 obsolete granulomatous autoinflammatory syndrome +MONDO:0008523 Blau syndrome MONDO:0018798 Orphanet:90340 Orphanet:477808 obsolete other genetic dermis disorder +MONDO:0008523 Blau syndrome MONDO:0020225 Orphanet:90340 Orphanet:98641 obsolete syndromic cataract +MONDO:0008537 telecanthus MONDO:0020158 Orphanet:98575 Orphanet:98567 obsolete eyelids malposition disorder +MONDO:0008538 temporal arteritis MONDO:0015488 Orphanet:397 Orphanet:156140 obsolete predominantly large-vessel vasculitis +MONDO:0008540 extensor tendons of finger anomalies MONDO:0015226 Orphanet:3294 Orphanet:109009 obsolete syndrome with limb malformations as a major feature +MONDO:0008540 extensor tendons of finger anomalies MONDO:8000032 Orphanet:3294 Orphanet:377789 obsolete malformation syndrome +MONDO:0008542 tetralogy of fallot MONDO:8000032 Orphanet:3303 Orphanet:377789 obsolete malformation syndrome +MONDO:0008544 tetramelic monodactyly MONDO:0017432 Orphanet:2564 Orphanet:294955 obsolete syndrome with limb reduction defects +MONDO:0008544 tetramelic monodactyly MONDO:8000032 Orphanet:2564 Orphanet:377789 obsolete malformation syndrome +MONDO:0008546 thanatophoric dysplasia type 1 MONDO:8000031 Orphanet:1860 Orphanet:557494 obsolete subtype of a disorder +MONDO:0008547 thanatophoric dysplasia type 2 MONDO:8000031 Orphanet:93274 Orphanet:557494 obsolete subtype of a disorder +MONDO:0008551 thoracolaryngopelvic dysplasia MONDO:0015930 Orphanet:3317 Orphanet:182111 obsolete respiratory malformation +MONDO:0008551 thoracolaryngopelvic dysplasia MONDO:0026203 Orphanet:3317 Orphanet:183622 obsolete genetic respiratory malformation +MONDO:0008551 thoracolaryngopelvic dysplasia MONDO:8000032 Orphanet:3317 Orphanet:377789 obsolete malformation syndrome +MONDO:0008562 thumb deformity-alopecia-pigmentation anomaly syndrome MONDO:0015226 Orphanet:2251 Orphanet:109009 obsolete syndrome with limb malformations as a major feature +MONDO:0008562 thumb deformity-alopecia-pigmentation anomaly syndrome MONDO:8000032 Orphanet:2251 Orphanet:377789 obsolete malformation syndrome +MONDO:0008563 thumb stiffness-brachydactyly-intellectual disability syndrome MONDO:0035863 Orphanet:1078 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0008563 thumb stiffness-brachydactyly-intellectual disability syndrome MONDO:0800094 Orphanet:1078 Orphanet:498454 obsolete dysostosis with brachydactyly with extraskeletal manifestations +MONDO:0008563 thumb stiffness-brachydactyly-intellectual disability syndrome MONDO:8000032 Orphanet:1078 Orphanet:377789 obsolete malformation syndrome +MONDO:0008565 familial thyroglossal duct cyst MONDO:0019859 Orphanet:93953 Orphanet:95718 obsolete congenital thyroid malformation without hypothyroidism +MONDO:0008565 familial thyroglossal duct cyst MONDO:8000030 Orphanet:93953 Orphanet:377791 obsolete morphological anomaly +MONDO:0008572 tibia, hypoplasia or aplasia of, with polydactyly MONDO:0017432 Orphanet:988 Orphanet:294955 obsolete syndrome with limb reduction defects +MONDO:0008572 tibia, hypoplasia or aplasia of, with polydactyly MONDO:8000032 Orphanet:988 Orphanet:377789 obsolete malformation syndrome +MONDO:0008582 tooth and nail syndrome MONDO:0015336 Orphanet:2228 Orphanet:139042 obsolete malformation syndrome with odontal and/or periodontal component +MONDO:0008582 tooth and nail syndrome MONDO:0026190 Orphanet:2228 Orphanet:183580 obsolete genetic malformation syndrome with odontal and/or periodontal component +MONDO:0008582 tooth and nail syndrome MONDO:8000032 Orphanet:2228 Orphanet:377789 obsolete malformation syndrome +MONDO:0008585 HELLP syndrome MONDO:0015582 Orphanet:244242 Orphanet:163637 obsolete rare disorder related with pregnancy, childbirth and puerperium +MONDO:0008585 HELLP syndrome MONDO:0016631 Orphanet:244242 Orphanet:248347 obsolete hemorrhagic disorder due to an acquired platelet anomaly +MONDO:0008586 esophageal atresia/tracheoesophageal fistula MONDO:0015207 Orphanet:1199 Orphanet:108959 obsolete non-syndromic esophageal malformation +MONDO:0008586 esophageal atresia/tracheoesophageal fistula MONDO:8000030 Orphanet:1199 Orphanet:377791 obsolete morphological anomaly +MONDO:0008587 tracheobronchopathia osteochondroplastica MONDO:0015118 Orphanet:3348 Orphanet:101944 obsolete rare pulmonary disease +MONDO:0008588 hereditary geniospasm MONDO:0017644 Orphanet:53372 Orphanet:306712 obsolete rare tremor disorder +MONDO:0008588 hereditary geniospasm MONDO:0017663 Orphanet:53372 Orphanet:307061 obsolete inherited tremor disorder +MONDO:0008591 tremor-nystagmus-duodenal ulcer syndrome MONDO:0017644 Orphanet:3350 Orphanet:306712 obsolete rare tremor disorder +MONDO:0008592 tricho-dento-osseous syndrome MONDO:0015336 Orphanet:3352 Orphanet:139042 obsolete malformation syndrome with odontal and/or periodontal component +MONDO:0008592 tricho-dento-osseous syndrome MONDO:0019282 Orphanet:3352 Orphanet:79367 obsolete syndromic hair shaft abnormality +MONDO:0008592 tricho-dento-osseous syndrome MONDO:0026190 Orphanet:3352 Orphanet:183580 obsolete genetic malformation syndrome with odontal and/or periodontal component +MONDO:0008592 tricho-dento-osseous syndrome MONDO:0800084 Orphanet:3352 Orphanet:93444 obsolete primary bone dysplasia with increased bone density +MONDO:0008592 tricho-dento-osseous syndrome MONDO:8000032 Orphanet:3352 Orphanet:377789 obsolete malformation syndrome +MONDO:0008594 familial multiple discoid fibromas MONDO:0015950 Orphanet:538756 Orphanet:183487 obsolete inherited skin tumor +MONDO:0008594 familial multiple discoid fibromas MONDO:0019300 Orphanet:538756 Orphanet:79386 obsolete rare skin tumor or hamartoma +MONDO:0008598 trichodysplasia-xeroderma syndrome MONDO:0019282 Orphanet:3361 Orphanet:79367 obsolete syndromic hair shaft abnormality +MONDO:0008598 trichodysplasia-xeroderma syndrome MONDO:8000032 Orphanet:3361 Orphanet:377789 obsolete malformation syndrome +MONDO:0008607 triphalangeal thumbs-brachyectrodactyly syndrome MONDO:0017434 Orphanet:2947 Orphanet:294959 obsolete syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy +MONDO:0008607 triphalangeal thumbs-brachyectrodactyly syndrome MONDO:8000032 Orphanet:2947 Orphanet:377789 obsolete malformation syndrome +MONDO:0008608 Down syndrome MONDO:0015246 Orphanet:870 Orphanet:117573 obsolete syndromic anorectal malformation +MONDO:0008608 Down syndrome MONDO:0015506 Orphanet:870 Orphanet:156532 obsolete rare syndrome with cardiac malformations +MONDO:0008608 Down syndrome MONDO:0018792 Orphanet:870 Orphanet:477771 obsolete Moyamoya syndrome +MONDO:0008608 Down syndrome MONDO:0020051 Orphanet:870 Orphanet:98131 obsolete total autosomal trisomy +MONDO:0008608 Down syndrome MONDO:0020162 Orphanet:870 Orphanet:98571 obsolete secondary ectropion +MONDO:0008608 Down syndrome MONDO:0020165 Orphanet:870 Orphanet:98574 obsolete syndromic epicanthus +MONDO:0008608 Down syndrome MONDO:0020167 Orphanet:870 Orphanet:98576 obsolete malposition of external canthus +MONDO:0008608 Down syndrome MONDO:0020211 Orphanet:870 Orphanet:98623 obsolete syndromic keratoconus +MONDO:0008608 Down syndrome MONDO:0020226 Orphanet:870 Orphanet:98642 obsolete chromosomal anomaly with cataract +MONDO:0008608 Down syndrome MONDO:0035863 Orphanet:870 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0008608 Down syndrome MONDO:8000032 Orphanet:870 Orphanet:377789 obsolete malformation syndrome +MONDO:0008611 humerus trochlea aplasia MONDO:0017432 Orphanet:3383 Orphanet:294955 obsolete syndrome with limb reduction defects +MONDO:0008611 humerus trochlea aplasia MONDO:8000032 Orphanet:3383 Orphanet:377789 obsolete malformation syndrome +MONDO:0008618 mesomelic dwarfism, Reinhardt-Pfeiffer type MONDO:0019697 Orphanet:2634 Orphanet:93438 obsolete mesomelic and rhizo-mesomelic dysplasia +MONDO:0008618 mesomelic dwarfism, Reinhardt-Pfeiffer type MONDO:8000032 Orphanet:2634 Orphanet:377789 obsolete malformation syndrome +MONDO:0008619 ulna metaphyseal dysplasia syndrome MONDO:0019693 Orphanet:1837 Orphanet:93430 obsolete multiple metaphyseal dysplasia +MONDO:0008620 upper limb mesomelic dysplasia MONDO:0019697 Orphanet:2497 Orphanet:93438 obsolete mesomelic and rhizo-mesomelic dysplasia +MONDO:0008620 upper limb mesomelic dysplasia MONDO:8000032 Orphanet:2497 Orphanet:377789 obsolete malformation syndrome +MONDO:0008621 uncombable hair syndrome MONDO:0019281 Orphanet:1410 Orphanet:79366 obsolete isolated genetic hair shaft abnormality +MONDO:0008622 tricho-retino-dento-digital syndrome MONDO:0020225 Orphanet:1264 Orphanet:98641 obsolete syndromic cataract +MONDO:0008622 tricho-retino-dento-digital syndrome MONDO:0020240 Orphanet:1264 Orphanet:98661 obsolete syndromic retinitis pigmentosa +MONDO:0008622 tricho-retino-dento-digital syndrome MONDO:8000032 Orphanet:1264 Orphanet:377789 obsolete malformation syndrome +MONDO:0008624 Upington disease MONDO:0800089 Orphanet:3408 Orphanet:93450 obsolete primary bone dysplasia with disorganized development of skeletal components +MONDO:0008624 Upington disease MONDO:8000032 Orphanet:3408 Orphanet:377789 obsolete malformation syndrome +MONDO:0008636 double uterus-hemivagina-renal agenesis syndrome MONDO:0015620 Orphanet:3411 Orphanet:165707 obsolete syndromic urogenital tract malformation +MONDO:0008636 double uterus-hemivagina-renal agenesis syndrome MONDO:0015846 Orphanet:3411 Orphanet:180148 obsolete syndromic uterovaginal malformation +MONDO:0008636 double uterus-hemivagina-renal agenesis syndrome MONDO:0019721 Orphanet:3411 Orphanet:93547 obsolete syndromic renal or urinary tract malformation +MONDO:0008636 double uterus-hemivagina-renal agenesis syndrome MONDO:8000032 Orphanet:3411 Orphanet:377789 obsolete malformation syndrome +MONDO:0008637 bifid uvula MONDO:8000030 Orphanet:99771 Orphanet:377791 obsolete morphological anomaly +MONDO:0008641 retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations MONDO:0015939 Orphanet:247691 Orphanet:182228 obsolete systemic autoimmune disease +MONDO:0008641 retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations MONDO:0018782 Orphanet:247691 Orphanet:477647 obsolete type 1 interferonopathy +MONDO:0008641 retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations MONDO:0018787 Orphanet:247691 Orphanet:477754 obsolete genetic cerebral small vessel disease +MONDO:0008642 VACTERL/vater association MONDO:0015208 Orphanet:887 Orphanet:108961 obsolete syndromic esophageal malformation +MONDO:0008642 VACTERL/vater association MONDO:0015246 Orphanet:887 Orphanet:117573 obsolete syndromic anorectal malformation +MONDO:0008642 VACTERL/vater association MONDO:0019721 Orphanet:887 Orphanet:93547 obsolete syndromic renal or urinary tract malformation +MONDO:0008642 VACTERL/vater association MONDO:8000032 Orphanet:887 Orphanet:377789 obsolete malformation syndrome +MONDO:0008645 ventricular extrasystoles with syncopal episodes-perodactyly-robin sequence syndrome MONDO:0015335 Orphanet:3201 Orphanet:139039 obsolete Mendelian syndromes with cleft lip/palate +MONDO:0008645 ventricular extrasystoles with syncopal episodes-perodactyly-robin sequence syndrome MONDO:0043008 Orphanet:3201 Orphanet:330206 obsolete genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability +MONDO:0008645 ventricular extrasystoles with syncopal episodes-perodactyly-robin sequence syndrome MONDO:8000032 Orphanet:3201 Orphanet:377789 obsolete malformation syndrome +MONDO:0008650 posterior fusion of lumbosacral vertebrae-blepharoptosis syndrome MONDO:0043008 Orphanet:2064 Orphanet:330206 obsolete genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability +MONDO:0008650 posterior fusion of lumbosacral vertebrae-blepharoptosis syndrome MONDO:8000032 Orphanet:2064 Orphanet:377789 obsolete malformation syndrome +MONDO:0008652 congenital vertical talus MONDO:8000030 Orphanet:178382 Orphanet:377791 obsolete morphological anomaly +MONDO:0008662 autosomal dominant vitreoretinochoroidopathy MONDO:0034943 Orphanet:3086 Orphanet:519304 obsolete isolated vitreoretinopathy +MONDO:0008663 snowflake vitreoretinal degeneration MONDO:0034943 Orphanet:91496 Orphanet:519304 obsolete isolated vitreoretinopathy +MONDO:0008663 snowflake vitreoretinal degeneration MONDO:0034953 Orphanet:91496 Orphanet:519325 obsolete syndromic inherited retinal disorder +MONDO:0008665 ptosis-vocal cord paralysis syndrome MONDO:0020169 Orphanet:2997 Orphanet:98578 obsolete rare disorder with ptosis +MONDO:0008665 ptosis-vocal cord paralysis syndrome MONDO:8000032 Orphanet:2997 Orphanet:377789 obsolete malformation syndrome +MONDO:0008667 von Hippel-Lindau disease MONDO:0015953 Orphanet:892 Orphanet:183503 obsolete genetic central nervous system and retinal vascular disease +MONDO:0008667 von Hippel-Lindau disease MONDO:0016756 Orphanet:892 Orphanet:252190 obsolete inherited nervous system cancer-predisposing syndrome +MONDO:0008667 von Hippel-Lindau disease MONDO:0017891 Orphanet:892 Orphanet:319328 obsolete inherited renal cancer-predisposing syndrome +MONDO:0008667 von Hippel-Lindau disease MONDO:0019110 Orphanet:892 Orphanet:71281 obsolete rare central nervous system or retinal vascular disease +MONDO:0008667 von Hippel-Lindau disease MONDO:0020063 Orphanet:892 Orphanet:98196 obsolete malformation syndrome with hamartosis +MONDO:0008667 von Hippel-Lindau disease MONDO:0020222 Orphanet:892 Orphanet:98638 obsolete rare disease with glaucoma as a major feature +MONDO:0008667 von Hippel-Lindau disease MONDO:0022409 Orphanet:892 Orphanet:156162 obsolete nephropathy-associated ciliopathy +MONDO:0008668 von Willebrand disease 1 MONDO:8000031 Orphanet:166078 Orphanet:557494 obsolete subtype of a disorder +MONDO:0008670 Waardenburg syndrome type 1 MONDO:8000031 Orphanet:894 Orphanet:557494 obsolete subtype of a disorder +MONDO:0008673 acrofacial dysostosis, Weyers type MONDO:0015334 Orphanet:952 Orphanet:139036 obsolete branchial arch or oral-acral syndrome +MONDO:0008673 acrofacial dysostosis, Weyers type MONDO:0026189 Orphanet:952 Orphanet:183576 obsolete genetic branchial arch or oral-acral syndrome +MONDO:0008673 acrofacial dysostosis, Weyers type MONDO:0043008 Orphanet:952 Orphanet:330206 obsolete genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability +MONDO:0008673 acrofacial dysostosis, Weyers type MONDO:8000032 Orphanet:952 Orphanet:377789 obsolete malformation syndrome +MONDO:0008675 Freeman-Sheldon syndrome MONDO:0043008 Orphanet:2053 Orphanet:330206 obsolete genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability +MONDO:0008675 Freeman-Sheldon syndrome MONDO:8000032 Orphanet:2053 Orphanet:377789 obsolete malformation syndrome +MONDO:0008678 Williams syndrome MONDO:0015329 Orphanet:904 Orphanet:139021 obsolete malformation syndrome with short stature +MONDO:0008678 Williams syndrome MONDO:0015506 Orphanet:904 Orphanet:156532 obsolete rare syndrome with cardiac malformations +MONDO:0008678 Williams syndrome MONDO:0015512 Orphanet:904 Orphanet:156629 obsolete genetic hypertension +MONDO:0008678 Williams syndrome MONDO:0017656 Orphanet:904 Orphanet:306765 obsolete motor stereotypies +MONDO:0008678 Williams syndrome MONDO:0020016 Orphanet:904 Orphanet:98033 obsolete rare neurologic disease with psychiatric involvement +MONDO:0008678 Williams syndrome MONDO:0020165 Orphanet:904 Orphanet:98574 obsolete syndromic epicanthus +MONDO:0008678 Williams syndrome MONDO:0026187 Orphanet:904 Orphanet:183570 obsolete genetic malformation syndrome with short stature +MONDO:0008678 Williams syndrome MONDO:0035863 Orphanet:904 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0008678 Williams syndrome MONDO:8000032 Orphanet:904 Orphanet:377789 obsolete malformation syndrome +MONDO:0008681 WAGR syndrome MONDO:0015945 Orphanet:893 Orphanet:183422 obsolete polymalformative genetic syndrome with increased risk of developing cancer +MONDO:0008681 WAGR syndrome MONDO:0016565 Orphanet:893 Orphanet:240371 obsolete syndromic genetic obesity +MONDO:0008681 WAGR syndrome MONDO:0017891 Orphanet:893 Orphanet:319328 obsolete inherited renal cancer-predisposing syndrome +MONDO:0008681 WAGR syndrome MONDO:0017978 Orphanet:893 Orphanet:325638 obsolete syndrome with disorder of sex development of gynecological interest +MONDO:0008681 WAGR syndrome MONDO:0019721 Orphanet:893 Orphanet:93547 obsolete syndromic renal or urinary tract malformation +MONDO:0008681 WAGR syndrome MONDO:0020042 Orphanet:893 Orphanet:98087 obsolete syndrome with 46,XY disorder of sex development +MONDO:0008681 WAGR syndrome MONDO:0020148 Orphanet:893 Orphanet:98557 obsolete syndromic aniridia +MONDO:0008681 WAGR syndrome MONDO:0020222 Orphanet:893 Orphanet:98638 obsolete rare disease with glaucoma as a major feature +MONDO:0008681 WAGR syndrome MONDO:0020225 Orphanet:893 Orphanet:98641 obsolete syndromic cataract +MONDO:0008681 WAGR syndrome MONDO:0035863 Orphanet:893 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0008681 WAGR syndrome MONDO:8000032 Orphanet:893 Orphanet:377789 obsolete malformation syndrome +MONDO:0008682 Denys-Drash syndrome MONDO:0015945 Orphanet:220 Orphanet:183422 obsolete polymalformative genetic syndrome with increased risk of developing cancer +MONDO:0008682 Denys-Drash syndrome MONDO:0017978 Orphanet:220 Orphanet:325638 obsolete syndrome with disorder of sex development of gynecological interest +MONDO:0008682 Denys-Drash syndrome MONDO:0020042 Orphanet:220 Orphanet:98087 obsolete syndrome with 46,XY disorder of sex development +MONDO:0008684 Wolf-Hirschhorn syndrome MONDO:0015216 Orphanet:280 Orphanet:108979 obsolete syndromic diaphragmatic or abdominal wall malformation +MONDO:0008684 Wolf-Hirschhorn syndrome MONDO:0015652 Orphanet:280 Orphanet:166469 obsolete chromosomal anomaly with epilepsy as a major feature +MONDO:0008684 Wolf-Hirschhorn syndrome MONDO:0015880 Orphanet:280 Orphanet:180779 obsolete syndromic diaphragmatic or thoracic malformation +MONDO:0008684 Wolf-Hirschhorn syndrome MONDO:0019589 Orphanet:280 Orphanet:90642 obsolete syndromic genetic hearing loss +MONDO:0008684 Wolf-Hirschhorn syndrome MONDO:0020226 Orphanet:280 Orphanet:98642 obsolete chromosomal anomaly with cataract +MONDO:0008684 Wolf-Hirschhorn syndrome MONDO:0035863 Orphanet:280 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0008684 Wolf-Hirschhorn syndrome MONDO:8000032 Orphanet:280 Orphanet:377789 obsolete malformation syndrome +MONDO:0008686 isolated familial wooly hair disorder MONDO:0019281 Orphanet:170 Orphanet:79366 obsolete isolated genetic hair shaft abnormality +MONDO:0008688 WT limb-blood syndrome MONDO:0800095 Orphanet:3466 Orphanet:93459 obsolete syndrome with synostosis or other joint formation defect +MONDO:0008692 abetalipoproteinemia MONDO:0015180 Orphanet:14 Orphanet:104005 obsolete intestinal disease due to fat malabsorption +MONDO:0008692 abetalipoproteinemia MONDO:0016133 Orphanet:14 Orphanet:207018 obsolete rare hereditary metabolic disease with peripheral neuropathy +MONDO:0008692 abetalipoproteinemia MONDO:0019058 Orphanet:14 Orphanet:68385 obsolete neurometabolic disease +MONDO:0008692 abetalipoproteinemia MONDO:0020103 Orphanet:14 Orphanet:98366 obsolete constitutional hemolytic anemia due to acanthocytosis +MONDO:0008692 abetalipoproteinemia MONDO:0020228 Orphanet:14 Orphanet:98644 obsolete cataract associated with a metabolic disease +MONDO:0008692 abetalipoproteinemia MONDO:0020240 Orphanet:14 Orphanet:98661 obsolete syndromic retinitis pigmentosa +MONDO:0008692 abetalipoproteinemia MONDO:0031698 Orphanet:14 Orphanet:363306 obsolete genetic intestinal disease due to fat malabsorption +MONDO:0008693 ablepharon macrostomia syndrome MONDO:0015335 Orphanet:920 Orphanet:139039 obsolete Mendelian syndromes with cleft lip/palate +MONDO:0008693 ablepharon macrostomia syndrome MONDO:0020154 Orphanet:920 Orphanet:98563 obsolete microblepharon-ablephara syndrome +MONDO:0008693 ablepharon macrostomia syndrome MONDO:0035863 Orphanet:920 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0008693 ablepharon macrostomia syndrome MONDO:8000032 Orphanet:920 Orphanet:377789 obsolete malformation syndrome +MONDO:0008694 pseudoprogeria syndrome MONDO:0031689 Orphanet:2985 Orphanet:363245 obsolete genetic progeroid syndrome +MONDO:0008694 pseudoprogeria syndrome MONDO:0035863 Orphanet:2985 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0008694 pseudoprogeria syndrome MONDO:8000032 Orphanet:2985 Orphanet:377789 obsolete malformation syndrome +MONDO:0008695 chorea-acanthocytosis MONDO:0016133 Orphanet:2388 Orphanet:207018 obsolete rare hereditary metabolic disease with peripheral neuropathy +MONDO:0008695 chorea-acanthocytosis MONDO:0016406 Orphanet:2388 Orphanet:225713 obsolete other metabolic disease with epilepsy +MONDO:0008695 chorea-acanthocytosis MONDO:0019058 Orphanet:2388 Orphanet:68385 obsolete neurometabolic disease +MONDO:0008695 chorea-acanthocytosis MONDO:0019274 Orphanet:2388 Orphanet:79359 obsolete other epidermal disorder +MONDO:0008695 chorea-acanthocytosis MONDO:0019275 Orphanet:2388 Orphanet:79360 obsolete other genetic epidermal disease +MONDO:0008696 acanthosis nigricans-insulin resistance-muscle cramps-acral enlargement syndrome MONDO:0015885 Orphanet:90301 Orphanet:181368 obsolete rare insulin-resistance syndrome +MONDO:0008696 acanthosis nigricans-insulin resistance-muscle cramps-acral enlargement syndrome MONDO:0019274 Orphanet:90301 Orphanet:79359 obsolete other epidermal disorder +MONDO:0008696 acanthosis nigricans-insulin resistance-muscle cramps-acral enlargement syndrome MONDO:0019275 Orphanet:90301 Orphanet:79360 obsolete other genetic epidermal disease +MONDO:0008699 achalasia microcephaly syndrome MONDO:0015208 Orphanet:929 Orphanet:108961 obsolete syndromic esophageal malformation +MONDO:0008699 achalasia microcephaly syndrome MONDO:0031952 Orphanet:929 Orphanet:371445 obsolete genetic syndromic esophageal malformation +MONDO:0008699 achalasia microcephaly syndrome MONDO:8000032 Orphanet:929 Orphanet:377789 obsolete malformation syndrome +MONDO:0008700 acheiropody MONDO:0034668 Orphanet:931 Orphanet:498461 obsolete terminal transverse limb defect +MONDO:0008700 acheiropody MONDO:8000030 Orphanet:931 Orphanet:377791 obsolete morphological anomaly +MONDO:0008701 achondrogenesis type IA MONDO:8000031 Orphanet:93299 Orphanet:557494 obsolete subtype of a disorder +MONDO:0008702 achondrogenesis type II MONDO:8000031 Orphanet:93296 Orphanet:557494 obsolete subtype of a disorder +MONDO:0008703 acromesomelic dysplasia 2A MONDO:8000032 Orphanet:2098 Orphanet:377789 obsolete malformation syndrome +MONDO:0008706 Ackerman syndrome MONDO:0015336 Orphanet:2561 Orphanet:139042 obsolete malformation syndrome with odontal and/or periodontal component +MONDO:0008706 Ackerman syndrome MONDO:0026190 Orphanet:2561 Orphanet:183580 obsolete genetic malformation syndrome with odontal and/or periodontal component +MONDO:0008706 Ackerman syndrome MONDO:0043008 Orphanet:2561 Orphanet:330206 obsolete genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability +MONDO:0008706 Ackerman syndrome MONDO:8000032 Orphanet:2561 Orphanet:377789 obsolete malformation syndrome +MONDO:0008707 acro-renal-mandibular syndrome MONDO:0043008 Orphanet:958 Orphanet:330206 obsolete genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability +MONDO:0008707 acro-renal-mandibular syndrome MONDO:8000032 Orphanet:958 Orphanet:377789 obsolete malformation syndrome +MONDO:0008708 acrocallosal syndrome MONDO:0016055 Orphanet:36 Orphanet:199639 obsolete syndrome with corpus callosum agenesis /dysgenesis as a major feature +MONDO:0008708 acrocallosal syndrome MONDO:0017122 Orphanet:36 Orphanet:269573 obsolete genetic syndrome with corpus callosum agenesis/dysgenesis as a major feature +MONDO:0008708 acrocallosal syndrome MONDO:0017434 Orphanet:36 Orphanet:294959 obsolete syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy +MONDO:0008708 acrocallosal syndrome MONDO:0035863 Orphanet:36 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0008708 acrocallosal syndrome MONDO:8000032 Orphanet:36 Orphanet:377789 obsolete malformation syndrome +MONDO:0008709 acrocephalopolydactyly MONDO:8000032 Orphanet:221054 Orphanet:377789 obsolete malformation syndrome +MONDO:0008711 Goodman syndrome MONDO:0043008 Orphanet:65798 Orphanet:330206 obsolete genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability +MONDO:0008711 Goodman syndrome MONDO:8000032 Orphanet:65798 Orphanet:377789 obsolete malformation syndrome +MONDO:0008712 acrocraniofacial dysostosis MONDO:0043008 Orphanet:949 Orphanet:330206 obsolete genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability +MONDO:0008712 acrocraniofacial dysostosis MONDO:8000032 Orphanet:949 Orphanet:377789 obsolete malformation syndrome +MONDO:0008713 acrodermatitis enteropathica MONDO:0015180 Orphanet:37 Orphanet:104005 obsolete intestinal disease due to fat malabsorption +MONDO:0008713 acrodermatitis enteropathica MONDO:0015331 Orphanet:37 Orphanet:139027 obsolete malformation syndrome with skin/mucosae involvement +MONDO:0008713 acrodermatitis enteropathica MONDO:0019252 Orphanet:37 Orphanet:79217 obsolete other metabolic disease with skin involvement +MONDO:0008713 acrodermatitis enteropathica MONDO:0031698 Orphanet:37 Orphanet:363306 obsolete genetic intestinal disease due to fat malabsorption +MONDO:0008714 acrofacial dysostosis Rodriguez type MONDO:0015334 Orphanet:1788 Orphanet:139036 obsolete branchial arch or oral-acral syndrome +MONDO:0008714 acrofacial dysostosis Rodriguez type MONDO:0026189 Orphanet:1788 Orphanet:183576 obsolete genetic branchial arch or oral-acral syndrome +MONDO:0008714 acrofacial dysostosis Rodriguez type MONDO:0035863 Orphanet:1788 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0008714 acrofacial dysostosis Rodriguez type MONDO:8000032 Orphanet:1788 Orphanet:377789 obsolete malformation syndrome +MONDO:0008715 acrofrontofacionasal dysostosis MONDO:8000032 Orphanet:1784 Orphanet:377789 obsolete malformation syndrome +MONDO:0008716 acrogeria MONDO:0035862 Orphanet:2500 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome +MONDO:0008716 acrogeria MONDO:8000032 Orphanet:2500 Orphanet:377789 obsolete malformation syndrome +MONDO:0008717 acromesomelic dysplasia 2C, Hunter-Thompson type MONDO:8000032 Orphanet:968 Orphanet:377789 obsolete malformation syndrome +MONDO:0008718 Morvan syndrome MONDO:0015657 Orphanet:83467 Orphanet:166484 obsolete inflammatory and autoimmune disease with epilepsy +MONDO:0008718 Morvan syndrome MONDO:0016375 Orphanet:83467 Orphanet:221114 obsolete acquired peripheral movement disorder +MONDO:0008718 Morvan syndrome MONDO:0038268 Orphanet:83467 Orphanet:98750 obsolete autoimmune neurological channelopathy +MONDO:0008722 short chain acyl-CoA dehydrogenase deficiency MONDO:0016117 Orphanet:26792 Orphanet:206953 obsolete muscular lipidosis +MONDO:0008723 very long chain acyl-CoA dehydrogenase deficiency MONDO:0016117 Orphanet:26793 Orphanet:206953 obsolete muscular lipidosis +MONDO:0008723 very long chain acyl-CoA dehydrogenase deficiency MONDO:0016328 Orphanet:26793 Orphanet:217591 obsolete fatty acid oxidation and ketogenesis disorder with hypertrophic cardiomyopathy +MONDO:0008724 adducted thumbs-arthrogryposis syndrome, Christian type MONDO:0015501 Orphanet:2952 Orphanet:156237 obsolete syndrome or malformation associated with head and neck malformations +MONDO:0008724 adducted thumbs-arthrogryposis syndrome, Christian type MONDO:8000032 Orphanet:2952 Orphanet:377789 obsolete malformation syndrome +MONDO:0008725 congenital lipoid adrenal hyperplasia due to STAR deficency MONDO:0018400 Orphanet:90790 Orphanet:399849 obsolete rare female infertility due to an adrenal disorder +MONDO:0008725 congenital lipoid adrenal hyperplasia due to STAR deficency MONDO:0018412 Orphanet:90790 Orphanet:400018 obsolete rare female infertility due to adrenal disorder of genetic origin +MONDO:0008725 congenital lipoid adrenal hyperplasia due to STAR deficency MONDO:0019595 Orphanet:90790 Orphanet:90786 obsolete 46,XY disorder of sex development due to adrenal and testicular steroidogenesis defect +MONDO:0008725 congenital lipoid adrenal hyperplasia due to STAR deficency MONDO:0034443 Orphanet:90790 Orphanet:485382 obsolete genetic non-acquired premature ovarian failure +MONDO:0008726 Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis MONDO:0019593 Orphanet:63269 Orphanet:90776 obsolete 46,XX disorder of sex development induced by fetal androgens excess +MONDO:0008726 Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis MONDO:0019595 Orphanet:63269 Orphanet:90786 obsolete 46,XY disorder of sex development due to adrenal and testicular steroidogenesis defect +MONDO:0008726 Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis MONDO:8000031 Orphanet:63269 Orphanet:557494 obsolete subtype of a disorder +MONDO:0008727 congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency MONDO:0019593 Orphanet:90791 Orphanet:90776 obsolete 46,XX disorder of sex development induced by fetal androgens excess +MONDO:0008727 congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency MONDO:0019595 Orphanet:90791 Orphanet:90786 obsolete 46,XY disorder of sex development due to adrenal and testicular steroidogenesis defect +MONDO:0008728 classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency MONDO:0018387 Orphanet:90794 Orphanet:399584 obsolete rare male infertility due to adrenal disorder +MONDO:0008728 classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency MONDO:0018400 Orphanet:90794 Orphanet:399849 obsolete rare female infertility due to an adrenal disorder +MONDO:0008728 classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency MONDO:0018406 Orphanet:90794 Orphanet:399994 obsolete rare male infertility due to adrenal disorder of genetic origin +MONDO:0008728 classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency MONDO:0018412 Orphanet:90794 Orphanet:400018 obsolete rare female infertility due to adrenal disorder of genetic origin +MONDO:0008728 classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency MONDO:0019593 Orphanet:90794 Orphanet:90776 obsolete 46,XX disorder of sex development induced by fetal androgens excess +MONDO:0008729 congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency MONDO:0019593 Orphanet:90795 Orphanet:90776 obsolete 46,XX disorder of sex development induced by fetal androgens excess +MONDO:0008730 congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency MONDO:0018387 Orphanet:90793 Orphanet:399584 obsolete rare male infertility due to adrenal disorder +MONDO:0008730 congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency MONDO:0018400 Orphanet:90793 Orphanet:399849 obsolete rare female infertility due to an adrenal disorder +MONDO:0008730 congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency MONDO:0018406 Orphanet:90793 Orphanet:399994 obsolete rare male infertility due to adrenal disorder of genetic origin +MONDO:0008730 congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency MONDO:0018412 Orphanet:90793 Orphanet:400018 obsolete rare female infertility due to adrenal disorder of genetic origin +MONDO:0008730 congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency MONDO:0019595 Orphanet:90793 Orphanet:90786 obsolete 46,XY disorder of sex development due to adrenal and testicular steroidogenesis defect +MONDO:0008730 congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency MONDO:0034443 Orphanet:90793 Orphanet:485382 obsolete genetic non-acquired premature ovarian failure +MONDO:0008731 familial adrenal hypoplasia with absent pituitary luteinizing hormone MONDO:0015891 Orphanet:95700 Orphanet:181390 obsolete hypogonadotropic hypogonadism associated with other endocrinopathies +MONDO:0008731 familial adrenal hypoplasia with absent pituitary luteinizing hormone MONDO:0020042 Orphanet:95700 Orphanet:98087 obsolete syndrome with 46,XY disorder of sex development +MONDO:0008731 familial adrenal hypoplasia with absent pituitary luteinizing hormone MONDO:0035683 Orphanet:95700 Orphanet:595337 obsolete adrenal hypoplasia congenita +MONDO:0008733 familial glucocorticoid deficiency MONDO:0020999 Orphanet:361 Orphanet:101960 obsolete genetic chronic primary adrenal insufficiency +MONDO:0008733 familial glucocorticoid deficiency MONDO:0035862 Orphanet:361 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome +MONDO:0008737 congenital afibrinogenemia MONDO:8000031 Orphanet:98880 Orphanet:557494 obsolete subtype of a disorder +MONDO:0008740 agnathia-otocephaly complex MONDO:0035863 Orphanet:990 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0008740 agnathia-otocephaly complex MONDO:8000032 Orphanet:990 Orphanet:377789 obsolete malformation syndrome +MONDO:0008741 PAGOD syndrome MONDO:0015846 Orphanet:991 Orphanet:180148 obsolete syndromic uterovaginal malformation +MONDO:0008741 PAGOD syndrome MONDO:0015880 Orphanet:991 Orphanet:180779 obsolete syndromic diaphragmatic or thoracic malformation +MONDO:0008741 PAGOD syndrome MONDO:0017965 Orphanet:991 Orphanet:325109 obsolete syndrome with 46,XX disorder of sex development +MONDO:0008741 PAGOD syndrome MONDO:0017978 Orphanet:991 Orphanet:325638 obsolete syndrome with disorder of sex development of gynecological interest +MONDO:0008741 PAGOD syndrome MONDO:0020042 Orphanet:991 Orphanet:98087 obsolete syndrome with 46,XY disorder of sex development +MONDO:0008741 PAGOD syndrome MONDO:0043008 Orphanet:991 Orphanet:330206 obsolete genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability +MONDO:0008741 PAGOD syndrome MONDO:8000032 Orphanet:991 Orphanet:377789 obsolete malformation syndrome +MONDO:0008743 Stimmler syndrome MONDO:0035863 Orphanet:3199 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0008743 Stimmler syndrome MONDO:8000032 Orphanet:3199 Orphanet:377789 obsolete malformation syndrome +MONDO:0008744 alar cartilages hypoplasia-coloboma-telecanthus syndrome MONDO:0043008 Orphanet:2007 Orphanet:330206 obsolete genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability +MONDO:0008744 alar cartilages hypoplasia-coloboma-telecanthus syndrome MONDO:8000032 Orphanet:2007 Orphanet:377789 obsolete malformation syndrome +MONDO:0008745 oculocutaneous albinism type 1A MONDO:8000031 Orphanet:79431 Orphanet:557494 obsolete subtype of a disorder +MONDO:0008749 pseudohypoparathyroidism type 2 MONDO:0018700 Orphanet:94090 Orphanet:457062 obsolete pseudohypoparathyroidism without Albright hereditary osteodystrophy +MONDO:0008750 microcephaly-albinism-digital anomalies syndrome MONDO:0043008 Orphanet:2513 Orphanet:330206 obsolete genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability +MONDO:0008750 microcephaly-albinism-digital anomalies syndrome MONDO:8000032 Orphanet:2513 Orphanet:377789 obsolete malformation syndrome +MONDO:0008752 Alexander disease MONDO:0015918 Orphanet:58 Orphanet:182070 obsolete rare neurodegenerative disease +MONDO:0008753 alkaptonuria MONDO:0019252 Orphanet:56 Orphanet:79217 obsolete other metabolic disease with skin involvement +MONDO:0008754 alopecia - contractures - dwarfism - intellectual disability syndrome MONDO:0035863 Orphanet:1005 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0008754 alopecia - contractures - dwarfism - intellectual disability syndrome MONDO:8000032 Orphanet:1005 Orphanet:377789 obsolete malformation syndrome +MONDO:0008755 Moynahan syndrome MONDO:0035862 Orphanet:2574 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome +MONDO:0008755 Moynahan syndrome MONDO:8000032 Orphanet:2574 Orphanet:377789 obsolete malformation syndrome +MONDO:0008756 alopecia - intellectual disability syndrome MONDO:0021034 Orphanet:2850 Orphanet:481771 obsolete hereditary alopecia +MONDO:0008756 alopecia - intellectual disability syndrome MONDO:0035862 Orphanet:2850 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome +MONDO:0008757 alopecia universalis congenita MONDO:0021034 Orphanet:701 Orphanet:481771 obsolete hereditary alopecia +MONDO:0008758 mitochondrial DNA depletion syndrome 4a MONDO:0015918 Orphanet:726 Orphanet:182070 obsolete rare neurodegenerative disease +MONDO:0008758 mitochondrial DNA depletion syndrome 4a MONDO:0016402 Orphanet:726 Orphanet:225700 obsolete mitochondrial disease with epilepsy +MONDO:0008758 mitochondrial DNA depletion syndrome 4a MONDO:0016403 Orphanet:726 Orphanet:225703 obsolete mitochondrial disease with peripheral neuropathy +MONDO:0008758 mitochondrial DNA depletion syndrome 4a MONDO:0019058 Orphanet:726 Orphanet:68385 obsolete neurometabolic disease +MONDO:0008758 mitochondrial DNA depletion syndrome 4a MONDO:0035862 Orphanet:726 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome +MONDO:0008759 oxoglutaricaciduria MONDO:0016402 Orphanet:31 Orphanet:225700 obsolete mitochondrial disease with epilepsy +MONDO:0008759 oxoglutaricaciduria MONDO:0016403 Orphanet:31 Orphanet:225703 obsolete mitochondrial disease with peripheral neuropathy +MONDO:0008759 oxoglutaricaciduria MONDO:0019058 Orphanet:31 Orphanet:68385 obsolete neurometabolic disease +MONDO:0008760 beta-ketothiolase deficiency MONDO:0035862 Orphanet:134 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome +MONDO:0008762 autosomal recessive Alport syndrome MONDO:8000031 Orphanet:88919 Orphanet:557494 obsolete subtype of a disorder +MONDO:0008763 Alstrom syndrome MONDO:0015887 Orphanet:64 Orphanet:181376 obsolete rare diabetes mellitus type 2 +MONDO:0008763 Alstrom syndrome MONDO:0016337 Orphanet:64 Orphanet:217619 obsolete syndrome associated with dilated cardiomyopathy +MONDO:0008763 Alstrom syndrome MONDO:0016565 Orphanet:64 Orphanet:240371 obsolete syndromic genetic obesity +MONDO:0008763 Alstrom syndrome MONDO:0019589 Orphanet:64 Orphanet:90642 obsolete syndromic genetic hearing loss +MONDO:0008763 Alstrom syndrome MONDO:0019744 Orphanet:64 Orphanet:93603 obsolete rare renal tubular disease +MONDO:0008763 Alstrom syndrome MONDO:0020225 Orphanet:64 Orphanet:98641 obsolete syndromic cataract +MONDO:0008763 Alstrom syndrome MONDO:0022409 Orphanet:64 Orphanet:156162 obsolete nephropathy-associated ciliopathy +MONDO:0008763 Alstrom syndrome MONDO:0034953 Orphanet:64 Orphanet:519325 obsolete syndromic inherited retinal disorder +MONDO:0008763 Alstrom syndrome MONDO:0035862 Orphanet:64 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome +MONDO:0008766 amaurosis-hypertrichosis syndrome MONDO:0034953 Orphanet:1021 Orphanet:519325 obsolete syndromic inherited retinal disorder +MONDO:0008771 amelogenesis imperfecta type 1G MONDO:0015336 Orphanet:1031 Orphanet:139042 obsolete malformation syndrome with odontal and/or periodontal component +MONDO:0008771 amelogenesis imperfecta type 1G MONDO:0019743 Orphanet:1031 Orphanet:93593 obsolete nephropathy secondary to a storage or other metabolic disease +MONDO:0008771 amelogenesis imperfecta type 1G MONDO:0026190 Orphanet:1031 Orphanet:183580 obsolete genetic malformation syndrome with odontal and/or periodontal component +MONDO:0008771 amelogenesis imperfecta type 1G MONDO:8000032 Orphanet:1031 Orphanet:377789 obsolete malformation syndrome +MONDO:0008783 Tangier disease MONDO:0016133 Orphanet:31150 Orphanet:207018 obsolete rare hereditary metabolic disease with peripheral neuropathy +MONDO:0008783 Tangier disease MONDO:0016134 Orphanet:31150 Orphanet:207021 obsolete rare hereditary systemic disease with peripheral neuropathy +MONDO:0008783 Tangier disease MONDO:0019058 Orphanet:31150 Orphanet:68385 obsolete neurometabolic disease +MONDO:0008787 microcytic anemia with liver iron overload MONDO:0020098 Orphanet:83642 Orphanet:98360 obsolete constitutional anemia due to iron metabolism disorder +MONDO:0008788 IRIDA syndrome MONDO:0020098 Orphanet:209981 Orphanet:98360 obsolete constitutional anemia due to iron metabolism disorder +MONDO:0008791 anencephaly 1 MONDO:0017085 Orphanet:1048 Orphanet:268843 obsolete malformation of the neurenteric canal, spinal cord and column +MONDO:0008791 anencephaly 1 MONDO:8000030 Orphanet:1048 Orphanet:377791 obsolete morphological anomaly +MONDO:0008792 familial angiolipomatosis MONDO:0015949 Orphanet:199279 Orphanet:183484 obsolete rare genetic subcutaneous tissue disorder +MONDO:0008795 aniridia-cerebellar ataxia-intellectual disability syndrome MONDO:0020148 Orphanet:1065 Orphanet:98557 obsolete syndromic aniridia +MONDO:0008795 aniridia-cerebellar ataxia-intellectual disability syndrome MONDO:0035862 Orphanet:1065 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome +MONDO:0008795 aniridia-cerebellar ataxia-intellectual disability syndrome MONDO:8000032 Orphanet:1065 Orphanet:377789 obsolete malformation syndrome +MONDO:0008796 aniridia-renal agenesis-psychomotor retardation syndrome MONDO:0019721 Orphanet:1064 Orphanet:93547 obsolete syndromic renal or urinary tract malformation +MONDO:0008796 aniridia-renal agenesis-psychomotor retardation syndrome MONDO:0020148 Orphanet:1064 Orphanet:98557 obsolete syndromic aniridia +MONDO:0008796 aniridia-renal agenesis-psychomotor retardation syndrome MONDO:0020222 Orphanet:1064 Orphanet:98638 obsolete rare disease with glaucoma as a major feature +MONDO:0008796 aniridia-renal agenesis-psychomotor retardation syndrome MONDO:0020253 Orphanet:1064 Orphanet:98683 obsolete syndrome with a symptomatic strabismus +MONDO:0008796 aniridia-renal agenesis-psychomotor retardation syndrome MONDO:0035863 Orphanet:1064 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0008796 aniridia-renal agenesis-psychomotor retardation syndrome MONDO:8000032 Orphanet:1064 Orphanet:377789 obsolete malformation syndrome +MONDO:0008797 anodontia MONDO:0015603 Orphanet:99797 Orphanet:164001 obsolete rare odontal or periodontal disorder +MONDO:0008797 anodontia MONDO:0018488 Orphanet:99797 Orphanet:420755 obsolete rare genetic odontal or periodontal disorder +MONDO:0008797 anodontia MONDO:8000030 Orphanet:99797 Orphanet:377791 obsolete morphological anomaly +MONDO:0008798 nonsyndromic congenital nail disorder 4 MONDO:8000031 Orphanet:94150 Orphanet:557494 obsolete subtype of a disorder +MONDO:0008799 anophthalmia/microphthalmia-esophageal atresia syndrome MONDO:0015208 Orphanet:77298 Orphanet:108961 obsolete syndromic esophageal malformation +MONDO:0008799 anophthalmia/microphthalmia-esophageal atresia syndrome MONDO:0019827 Orphanet:77298 Orphanet:95495 obsolete disease associated with non-acquired combined pituitary hormone deficiency +MONDO:0008799 anophthalmia/microphthalmia-esophageal atresia syndrome MONDO:0031952 Orphanet:77298 Orphanet:371445 obsolete genetic syndromic esophageal malformation +MONDO:0008799 anophthalmia/microphthalmia-esophageal atresia syndrome MONDO:0035863 Orphanet:77298 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0008799 anophthalmia/microphthalmia-esophageal atresia syndrome MONDO:8000032 Orphanet:77298 Orphanet:377789 obsolete malformation syndrome +MONDO:0008800 microphthalmia with limb anomalies MONDO:0035863 Orphanet:1106 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0008800 microphthalmia with limb anomalies MONDO:8000032 Orphanet:1106 Orphanet:377789 obsolete malformation syndrome +MONDO:0008803 Antley-Bixler syndrome MONDO:0035863 Orphanet:83 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0008803 Antley-Bixler syndrome MONDO:8000032 Orphanet:83 Orphanet:377789 obsolete malformation syndrome +MONDO:0008806 Aphalangy-hemivertebrae-urogenital-intestinal dysgenesis syndrome MONDO:0017432 Orphanet:1112 Orphanet:294955 obsolete syndrome with limb reduction defects +MONDO:0008806 Aphalangy-hemivertebrae-urogenital-intestinal dysgenesis syndrome MONDO:8000032 Orphanet:1112 Orphanet:377789 obsolete malformation syndrome +MONDO:0008808 aplasia cutis congenita-intestinal lymphangiectasia syndrome MONDO:0015245 Orphanet:1116 Orphanet:117569 obsolete rare intestinal disease +MONDO:0008808 aplasia cutis congenita-intestinal lymphangiectasia syndrome MONDO:0015331 Orphanet:1116 Orphanet:139027 obsolete malformation syndrome with skin/mucosae involvement +MONDO:0008808 aplasia cutis congenita-intestinal lymphangiectasia syndrome MONDO:0015616 Orphanet:1116 Orphanet:165655 obsolete rare genetic intestinal disease +MONDO:0008808 aplasia cutis congenita-intestinal lymphangiectasia syndrome MONDO:0035470 Orphanet:1116 Orphanet:568044 obsolete primary lymphedema with systemic or visceral involvement +MONDO:0008808 aplasia cutis congenita-intestinal lymphangiectasia syndrome MONDO:0957001 Orphanet:1116 Orphanet:183481 obsolete hereditary mixed dermis disorder +MONDO:0008809 polyneuropathy-hand defect syndrome MONDO:8000032 Orphanet:2926 Orphanet:377789 obsolete malformation syndrome +MONDO:0008810 familial apolipoprotein C-II deficiency MONDO:8000031 Orphanet:309020 Orphanet:557494 obsolete subtype of a disorder +MONDO:0008811 XK aprosencephaly MONDO:0017118 Orphanet:3469 Orphanet:269523 obsolete syndrome with a cerebellar malformation as major feature +MONDO:0008811 XK aprosencephaly MONDO:8000032 Orphanet:3469 Orphanet:377789 obsolete malformation syndrome +MONDO:0008812 AREDYLD syndrome MONDO:0015888 Orphanet:1133 Orphanet:181381 obsolete other rare diabetes mellitus +MONDO:0008812 AREDYLD syndrome MONDO:0019721 Orphanet:1133 Orphanet:93547 obsolete syndromic renal or urinary tract malformation +MONDO:0008812 AREDYLD syndrome MONDO:8000032 Orphanet:1133 Orphanet:377789 obsolete malformation syndrome +MONDO:0008813 arachnoid cyst MONDO:0017104 Orphanet:2356 Orphanet:269194 obsolete central nervous system cystic malformation +MONDO:0008813 arachnoid cyst MONDO:0019834 Orphanet:2356 Orphanet:95505 obsolete pituitary hormone deficiency from meningeal origin +MONDO:0008813 arachnoid cyst MONDO:8000030 Orphanet:2356 Orphanet:377791 obsolete morphological anomaly +MONDO:0008815 argininosuccinic aciduria MONDO:0035862 Orphanet:23 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome +MONDO:0008818 arterial tortuosity syndrome MONDO:0017311 Orphanet:3342 Orphanet:285014 obsolete rare disease with thoracic aortic aneurysm and aortic dissection +MONDO:0008818 arterial tortuosity syndrome MONDO:8000032 Orphanet:3342 Orphanet:377789 obsolete malformation syndrome +MONDO:0008825 arthrogryposis multiplex congenita-whistling face syndrome MONDO:0015501 Orphanet:1150 Orphanet:156237 obsolete syndrome or malformation associated with head and neck malformations +MONDO:0008825 arthrogryposis multiplex congenita-whistling face syndrome MONDO:8000032 Orphanet:1150 Orphanet:377789 obsolete malformation syndrome +MONDO:0008826 arthrogryposis-hyperkeratosis syndrome, lethal form MONDO:8000032 Orphanet:1485 Orphanet:377789 obsolete malformation syndrome +MONDO:0008827 progressive pseudorheumatoid arthropathy of childhood MONDO:0800092 Orphanet:1159 Orphanet:498445 obsolete hereditary inflammatory or rheumatoid-like osteoarthropathy +MONDO:0008828 camptodactyly-arthropathy-coxa vara-pericarditis syndrome MONDO:0015940 Orphanet:2848 Orphanet:182231 obsolete rare rheumatologic disease +MONDO:0008828 camptodactyly-arthropathy-coxa vara-pericarditis syndrome MONDO:0028795 Orphanet:2848 Orphanet:271870 obsolete rare genetic systemic or rheumatologic disease +MONDO:0008829 chylous ascites MONDO:0015621 Orphanet:1160 Orphanet:165711 obsolete rare abdominal surgical disease +MONDO:0008830 aspartylglucosaminuria MONDO:0016397 Orphanet:93 Orphanet:225681 obsolete lysosomal disease with epilepsy +MONDO:0008830 aspartylglucosaminuria MONDO:0019058 Orphanet:93 Orphanet:68385 obsolete neurometabolic disease +MONDO:0008830 aspartylglucosaminuria MONDO:0035862 Orphanet:93 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome +MONDO:0008832 right atrial isomerism MONDO:0015214 Orphanet:97548 Orphanet:108973 obsolete syndromic visceral malformation +MONDO:0008832 right atrial isomerism MONDO:0017131 Orphanet:97548 Orphanet:271853 obsolete hereditary cardiac anomaly +MONDO:0008832 right atrial isomerism MONDO:8000032 Orphanet:97548 Orphanet:377789 obsolete malformation syndrome +MONDO:0008838 ataxia - deafness - intellectual disability syndrome MONDO:0019589 Orphanet:1188 Orphanet:90642 obsolete syndromic genetic hearing loss +MONDO:0008838 ataxia - deafness - intellectual disability syndrome MONDO:0020253 Orphanet:1188 Orphanet:98683 obsolete syndrome with a symptomatic strabismus +MONDO:0008838 ataxia - deafness - intellectual disability syndrome MONDO:0035862 Orphanet:1188 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome +MONDO:0008838 ataxia - deafness - intellectual disability syndrome MONDO:8000032 Orphanet:1188 Orphanet:377789 obsolete malformation syndrome +MONDO:0008840 ataxia telangiectasia MONDO:0015331 Orphanet:100 Orphanet:139027 obsolete malformation syndrome with skin/mucosae involvement +MONDO:0008840 ataxia telangiectasia MONDO:0015707 Orphanet:100 Orphanet:169346 obsolete DNA repair defect other than combined T-cell and B-cell immunodeficiencies +MONDO:0008840 ataxia telangiectasia MONDO:0015945 Orphanet:100 Orphanet:183422 obsolete polymalformative genetic syndrome with increased risk of developing cancer +MONDO:0008840 ataxia telangiectasia MONDO:0015948 Orphanet:100 Orphanet:183478 obsolete rare genetic skin vascular disorder +MONDO:0008840 ataxia telangiectasia MONDO:0016756 Orphanet:100 Orphanet:252190 obsolete inherited nervous system cancer-predisposing syndrome +MONDO:0008840 ataxia telangiectasia MONDO:0020045 Orphanet:100 Orphanet:98097 obsolete autosomal recessive cerebellar ataxia due to a DNA repair defect +MONDO:0008840 ataxia telangiectasia MONDO:0020253 Orphanet:100 Orphanet:98683 obsolete syndrome with a symptomatic strabismus +MONDO:0008840 ataxia telangiectasia MONDO:0034443 Orphanet:100 Orphanet:485382 obsolete genetic non-acquired premature ovarian failure +MONDO:0008840 ataxia telangiectasia MONDO:0034961 Orphanet:100 Orphanet:519341 obsolete rare brainstem or cerebellar disorder with ophthalmic involvement as a major feature +MONDO:0008840 ataxia telangiectasia MONDO:0035862 Orphanet:100 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome +MONDO:0008842 ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia MONDO:0020045 Orphanet:1168 Orphanet:98097 obsolete autosomal recessive cerebellar ataxia due to a DNA repair defect +MONDO:0008842 ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia MONDO:0034961 Orphanet:1168 Orphanet:519341 obsolete rare brainstem or cerebellar disorder with ophthalmic involvement as a major feature +MONDO:0008843 atherosclerosis-deafness-diabetes-epilepsy-nephropathy syndrome MONDO:0019589 Orphanet:1192 Orphanet:90642 obsolete syndromic genetic hearing loss +MONDO:0008843 atherosclerosis-deafness-diabetes-epilepsy-nephropathy syndrome MONDO:0019721 Orphanet:1192 Orphanet:93547 obsolete syndromic renal or urinary tract malformation +MONDO:0008843 atherosclerosis-deafness-diabetes-epilepsy-nephropathy syndrome MONDO:8000032 Orphanet:1192 Orphanet:377789 obsolete malformation syndrome +MONDO:0008846 atransferrinemia MONDO:0020098 Orphanet:1195 Orphanet:98360 obsolete constitutional anemia due to iron metabolism disorder +MONDO:0008847 atrichia with papular lesions MONDO:0021034 Orphanet:86819 Orphanet:481771 obsolete hereditary alopecia +MONDO:0008850 Cooper-Jabs syndrome MONDO:0035863 Orphanet:1488 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0008850 Cooper-Jabs syndrome MONDO:8000032 Orphanet:1488 Orphanet:377789 obsolete malformation syndrome +MONDO:0008853 Barber-Say syndrome MONDO:0020162 Orphanet:1231 Orphanet:98571 obsolete secondary ectropion +MONDO:0008853 Barber-Say syndrome MONDO:0043008 Orphanet:1231 Orphanet:330206 obsolete genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability +MONDO:0008853 Barber-Say syndrome MONDO:8000032 Orphanet:1231 Orphanet:377789 obsolete malformation syndrome +MONDO:0008857 Beemer-Ertbruggen syndrome MONDO:0043008 Orphanet:1237 Orphanet:330206 obsolete genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability +MONDO:0008857 Beemer-Ertbruggen syndrome MONDO:8000032 Orphanet:1237 Orphanet:377789 obsolete malformation syndrome +MONDO:0008864 Biemond syndrome type 2 MONDO:0015329 Orphanet:141333 Orphanet:139021 obsolete malformation syndrome with short stature +MONDO:0008864 Biemond syndrome type 2 MONDO:0035863 Orphanet:141333 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0008867 biliary atresia MONDO:0015213 Orphanet:30391 Orphanet:108971 obsolete non-syndromic visceral malformation +MONDO:0008867 biliary atresia MONDO:0028737 Orphanet:30391 Orphanet:498345 obsolete biliary atresia disorder +MONDO:0008867 biliary atresia MONDO:8000030 Orphanet:30391 Orphanet:377791 obsolete morphological anomaly +MONDO:0008870 bird headed-dwarfism, Montreal type MONDO:0035863 Orphanet:2617 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0008870 bird headed-dwarfism, Montreal type MONDO:8000032 Orphanet:2617 Orphanet:377789 obsolete malformation syndrome +MONDO:0008872 microcephalic osteodysplastic primordial dwarfism type II MONDO:0016565 Orphanet:2637 Orphanet:240371 obsolete syndromic genetic obesity +MONDO:0008872 microcephalic osteodysplastic primordial dwarfism type II MONDO:0017950 Orphanet:2637 Orphanet:324761 obsolete microcephalic primordial dwarfism +MONDO:0008872 microcephalic osteodysplastic primordial dwarfism type II MONDO:0018792 Orphanet:2637 Orphanet:477771 obsolete Moyamoya syndrome +MONDO:0008872 microcephalic osteodysplastic primordial dwarfism type II MONDO:0019699 Orphanet:2637 Orphanet:93440 obsolete slender bone dysplasia +MONDO:0008872 microcephalic osteodysplastic primordial dwarfism type II MONDO:8000032 Orphanet:2637 Orphanet:377789 obsolete malformation syndrome +MONDO:0008874 Bangstad syndrome MONDO:0026209 Orphanet:1227 Orphanet:183643 obsolete genetic polyendocrinopathy +MONDO:0008874 Bangstad syndrome MONDO:8000032 Orphanet:1227 Orphanet:377789 obsolete malformation syndrome +MONDO:0008875 blepharophimosis-ptosis-esotropia-syndactyly-short stature syndrome MONDO:0020169 Orphanet:2057 Orphanet:98578 obsolete rare disorder with ptosis +MONDO:0008875 blepharophimosis-ptosis-esotropia-syndactyly-short stature syndrome MONDO:0020253 Orphanet:2057 Orphanet:98683 obsolete syndrome with a symptomatic strabismus +MONDO:0008875 blepharophimosis-ptosis-esotropia-syndactyly-short stature syndrome MONDO:0043008 Orphanet:2057 Orphanet:330206 obsolete genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability +MONDO:0008875 blepharophimosis-ptosis-esotropia-syndactyly-short stature syndrome MONDO:8000032 Orphanet:2057 Orphanet:377789 obsolete malformation syndrome +MONDO:0008876 Bloom syndrome MONDO:0015329 Orphanet:125 Orphanet:139021 obsolete malformation syndrome with short stature +MONDO:0008876 Bloom syndrome MONDO:0015707 Orphanet:125 Orphanet:169346 obsolete DNA repair defect other than combined T-cell and B-cell immunodeficiencies +MONDO:0008876 Bloom syndrome MONDO:0015945 Orphanet:125 Orphanet:183422 obsolete polymalformative genetic syndrome with increased risk of developing cancer +MONDO:0008876 Bloom syndrome MONDO:0019044 Orphanet:125 Orphanet:68347 obsolete tumor of hematopoietic and lymphoid tissues +MONDO:0008876 Bloom syndrome MONDO:0019304 Orphanet:125 Orphanet:79390 obsolete rare photodermatosis +MONDO:0008876 Bloom syndrome MONDO:0026187 Orphanet:125 Orphanet:183570 obsolete genetic malformation syndrome with short stature +MONDO:0008876 Bloom syndrome MONDO:0035862 Orphanet:125 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome +MONDO:0008878 bone dysplasia, lethal Holmgren type MONDO:0019718 Orphanet:1842 Orphanet:93465 obsolete lethal chondrodysplasia +MONDO:0008878 bone dysplasia, lethal Holmgren type MONDO:8000032 Orphanet:1842 Orphanet:377789 obsolete malformation syndrome +MONDO:0008879 Bowen-Conradi syndrome MONDO:0017119 Orphanet:1270 Orphanet:269528 obsolete syndrome with microcephaly as major feature +MONDO:0008879 Bowen-Conradi syndrome MONDO:0035863 Orphanet:1270 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0008879 Bowen-Conradi syndrome MONDO:8000032 Orphanet:1270 Orphanet:377789 obsolete malformation syndrome +MONDO:0008881 kyphomelic dysplasia MONDO:8000032 Orphanet:1801 Orphanet:377789 obsolete malformation syndrome +MONDO:0008884 oculoosteocutaneous syndrome MONDO:0020253 Orphanet:2713 Orphanet:98683 obsolete syndrome with a symptomatic strabismus +MONDO:0008884 oculoosteocutaneous syndrome MONDO:8000032 Orphanet:2713 Orphanet:377789 obsolete malformation syndrome +MONDO:0008885 Elsahy-Waters syndrome MONDO:0015620 Orphanet:1299 Orphanet:165707 obsolete syndromic urogenital tract malformation +MONDO:0008885 Elsahy-Waters syndrome MONDO:0035863 Orphanet:1299 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0008885 Elsahy-Waters syndrome MONDO:8000032 Orphanet:1299 Orphanet:377789 obsolete malformation syndrome +MONDO:0008888 Williams-Campbell syndrome MONDO:0015221 Orphanet:411501 Orphanet:108993 obsolete non-syndromic respiratory or mediastinal malformation +MONDO:0008888 Williams-Campbell syndrome MONDO:0015930 Orphanet:411501 Orphanet:182111 obsolete respiratory malformation +MONDO:0008888 Williams-Campbell syndrome MONDO:8000030 Orphanet:411501 Orphanet:377791 obsolete morphological anomaly +MONDO:0008889 thromboangiitis obliterans MONDO:0015489 Orphanet:36258 Orphanet:156143 obsolete predominantly medium-vessel vasculitis +MONDO:0008891 riboflavin transporter deficiency MONDO:0016114 Orphanet:97229 Orphanet:206704 obsolete bulbospinal muscular atrophy of childhood +MONDO:0008891 riboflavin transporter deficiency MONDO:0018609 Orphanet:97229 Orphanet:441434 obsolete syndromic hereditary optic neuropathy +MONDO:0008891 riboflavin transporter deficiency MONDO:0019589 Orphanet:97229 Orphanet:90642 obsolete syndromic genetic hearing loss +MONDO:0008891 riboflavin transporter deficiency MONDO:8000032 Orphanet:97229 Orphanet:377789 obsolete malformation syndrome +MONDO:0008892 progressive familial intrahepatic cholestasis type 1 MONDO:8000031 Orphanet:79306 Orphanet:557494 obsolete subtype of a disorder +MONDO:0008893 C syndrome MONDO:0035863 Orphanet:1308 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0008893 C syndrome MONDO:8000032 Orphanet:1308 Orphanet:377789 obsolete malformation syndrome +MONDO:0008894 cataract-hypertrichosis-intellectual disability syndrome MONDO:0020225 Orphanet:1375 Orphanet:98641 obsolete syndromic cataract +MONDO:0008894 cataract-hypertrichosis-intellectual disability syndrome MONDO:0035862 Orphanet:1375 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome +MONDO:0008894 cataract-hypertrichosis-intellectual disability syndrome MONDO:8000032 Orphanet:1375 Orphanet:377789 obsolete malformation syndrome +MONDO:0008895 hereditary arterial and articular multiple calcification syndrome MONDO:0016517 Orphanet:289601 Orphanet:233655 obsolete rare genetic vascular disease +MONDO:0008896 campomelia, Cumming type MONDO:0035863 Orphanet:1318 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0008896 campomelia, Cumming type MONDO:8000032 Orphanet:1318 Orphanet:377789 obsolete malformation syndrome +MONDO:0008898 camptodactyly syndrome, Guadalajara type 1 MONDO:0043008 Orphanet:1327 Orphanet:330206 obsolete genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability +MONDO:0008898 camptodactyly syndrome, Guadalajara type 1 MONDO:8000032 Orphanet:1327 Orphanet:377789 obsolete malformation syndrome +MONDO:0008899 camptodactyly syndrome, Guadalajara type 2 MONDO:0017432 Orphanet:1326 Orphanet:294955 obsolete syndrome with limb reduction defects +MONDO:0008899 camptodactyly syndrome, Guadalajara type 2 MONDO:0043008 Orphanet:1326 Orphanet:330206 obsolete genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability +MONDO:0008899 camptodactyly syndrome, Guadalajara type 2 MONDO:8000032 Orphanet:1326 Orphanet:377789 obsolete malformation syndrome +MONDO:0008900 camptodactyly with fibrous tissue hyperplasia and skeletal dysplasia MONDO:0018235 Orphanet:1321 Orphanet:364568 obsolete dysostosis with limb anomaly as a major feature +MONDO:0008900 camptodactyly with fibrous tissue hyperplasia and skeletal dysplasia MONDO:0035863 Orphanet:1321 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0008900 camptodactyly with fibrous tissue hyperplasia and skeletal dysplasia MONDO:8000032 Orphanet:1321 Orphanet:377789 obsolete malformation syndrome +MONDO:0008901 Tel Hashomer camptodactyly syndrome MONDO:0018235 Orphanet:3292 Orphanet:364568 obsolete dysostosis with limb anomaly as a major feature +MONDO:0008901 Tel Hashomer camptodactyly syndrome MONDO:8000032 Orphanet:3292 Orphanet:377789 obsolete malformation syndrome +MONDO:0008907 PMM2-congenital disorder of glycosylation MONDO:0018287 Orphanet:79318 Orphanet:371071 obsolete congenital disorder of glycosylation with epilepsy as a major feature +MONDO:0008907 PMM2-congenital disorder of glycosylation MONDO:0018288 Orphanet:79318 Orphanet:371157 obsolete congenital disorder of glycosylation with hepatic involvement +MONDO:0008907 PMM2-congenital disorder of glycosylation MONDO:0018293 Orphanet:79318 Orphanet:371200 obsolete congenital disorder of glycosylation with skin involvement +MONDO:0008907 PMM2-congenital disorder of glycosylation MONDO:0035862 Orphanet:79318 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome +MONDO:0008908 MGAT2-congenital disorder of glycosylation MONDO:0018284 Orphanet:79329 Orphanet:371047 obsolete congenital disorder of glycosylation with neurological involvement +MONDO:0008908 MGAT2-congenital disorder of glycosylation MONDO:0018290 Orphanet:79329 Orphanet:371183 obsolete congenital disorder of glycosylation with cardiac malformation as a major feature +MONDO:0008908 MGAT2-congenital disorder of glycosylation MONDO:0035862 Orphanet:79329 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome +MONDO:0008915 dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome MONDO:0015906 Orphanet:2229 Orphanet:181441 obsolete rare disorder with hypergonadotropic hypogonadism +MONDO:0008915 dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome MONDO:0016337 Orphanet:2229 Orphanet:217619 obsolete syndrome associated with dilated cardiomyopathy +MONDO:0008915 dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome MONDO:0029810 Orphanet:2229 Orphanet:300755 obsolete laminopathy with striated muscle involvement +MONDO:0008915 dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome MONDO:8000032 Orphanet:2229 Orphanet:377789 obsolete malformation syndrome +MONDO:0008917 heart defects-limb shortening syndrome MONDO:0015506 Orphanet:1354 Orphanet:156532 obsolete rare syndrome with cardiac malformations +MONDO:0008917 heart defects-limb shortening syndrome MONDO:0017432 Orphanet:1354 Orphanet:294955 obsolete syndrome with limb reduction defects +MONDO:0008917 heart defects-limb shortening syndrome MONDO:0043008 Orphanet:1354 Orphanet:330206 obsolete genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability +MONDO:0008917 heart defects-limb shortening syndrome MONDO:8000032 Orphanet:1354 Orphanet:377789 obsolete malformation syndrome +MONDO:0008918 carnitine-acylcarnitine translocase deficiency MONDO:0016328 Orphanet:159 Orphanet:217591 obsolete fatty acid oxidation and ketogenesis disorder with hypertrophic cardiomyopathy +MONDO:0008918 carnitine-acylcarnitine translocase deficiency MONDO:0035862 Orphanet:159 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome +MONDO:0008919 systemic primary carnitine deficiency disease MONDO:0016117 Orphanet:158 Orphanet:206953 obsolete muscular lipidosis +MONDO:0008919 systemic primary carnitine deficiency disease MONDO:0016336 Orphanet:158 Orphanet:217616 obsolete fatty acid oxidation and ketogenesis disorder with dilated cardiomyopathy +MONDO:0008921 carnosinemia MONDO:0018652 Orphanet:1361 Orphanet:447874 obsolete biological anomaly without phenotypic characterization +MONDO:0008921 carnosinemia MONDO:0032011 Orphanet:1361 Orphanet:377790 obsolete biological anomaly +MONDO:0008922 Sengers syndrome MONDO:0016327 Orphanet:1369 Orphanet:217587 obsolete mitochondrial disease with hypertrophic cardiomyopathy +MONDO:0008922 Sengers syndrome MONDO:0018120 Orphanet:1369 Orphanet:352312 obsolete disorder of phospholipids, sphingolipids and fatty acids biosynthesis with skeletal muscle predominant involvement +MONDO:0008922 Sengers syndrome MONDO:0020225 Orphanet:1369 Orphanet:98641 obsolete syndromic cataract +MONDO:0008922 Sengers syndrome MONDO:0020253 Orphanet:1369 Orphanet:98683 obsolete syndrome with a symptomatic strabismus +MONDO:0008923 autosomal recessive palmoplantar keratoderma and congenital alopecia MONDO:0017671 Orphanet:1366 Orphanet:307804 obsolete autosomal recessive disease with diffuse palmoplantar keratoderma as a major feature +MONDO:0008923 autosomal recessive palmoplantar keratoderma and congenital alopecia MONDO:0020225 Orphanet:1366 Orphanet:98641 obsolete syndromic cataract +MONDO:0008926 COFS syndrome MONDO:0020233 Orphanet:1466 Orphanet:98649 obsolete dentocutaneous disease with cataract +MONDO:0008926 COFS syndrome MONDO:8000031 Orphanet:1466 Orphanet:557494 obsolete subtype of a disorder +MONDO:0008928 cataract-ataxia-deafness syndrome MONDO:0019589 Orphanet:1368 Orphanet:90642 obsolete syndromic genetic hearing loss +MONDO:0008928 cataract-ataxia-deafness syndrome MONDO:0020225 Orphanet:1368 Orphanet:98641 obsolete syndromic cataract +MONDO:0008931 Cenani-Lenz syndactyly syndrome MONDO:0017434 Orphanet:3258 Orphanet:294959 obsolete syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy +MONDO:0008931 Cenani-Lenz syndactyly syndrome MONDO:8000032 Orphanet:3258 Orphanet:377789 obsolete malformation syndrome +MONDO:0008934 cerebellar ataxia-ectodermal dysplasia syndrome MONDO:8000032 Orphanet:1174 Orphanet:377789 obsolete malformation syndrome +MONDO:0008935 cerebellar ataxia-hypogonadism syndrome MONDO:0015890 Orphanet:1173 Orphanet:181387 obsolete rare disorder with congenital hypogonadotropic hypogonadism +MONDO:0008939 isolated cerebellar hypoplasia/agenesis MONDO:0017114 Orphanet:1398 Orphanet:269224 obsolete global cerebellar malformation +MONDO:0008939 isolated cerebellar hypoplasia/agenesis MONDO:8000030 Orphanet:1398 Orphanet:377791 obsolete morphological anomaly +MONDO:0008941 hepatic fibrosis-renal cysts-intellectual disability syndrome MONDO:0015114 Orphanet:2031 Orphanet:101939 obsolete rare parenchymal liver disease +MONDO:0008941 hepatic fibrosis-renal cysts-intellectual disability syndrome MONDO:0015508 Orphanet:2031 Orphanet:156604 obsolete hereditary parenchymatous liver disease +MONDO:0008941 hepatic fibrosis-renal cysts-intellectual disability syndrome MONDO:0035863 Orphanet:2031 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0008941 hepatic fibrosis-renal cysts-intellectual disability syndrome MONDO:8000032 Orphanet:2031 Orphanet:377789 obsolete malformation syndrome +MONDO:0008943 autosomal recessive spinocerebellar ataxia 2 MONDO:0020225 Orphanet:1170 Orphanet:98641 obsolete syndromic cataract +MONDO:0008943 autosomal recessive spinocerebellar ataxia 2 MONDO:0035862 Orphanet:1170 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome +MONDO:0008947 bilateral striopallidodentate calcinosis MONDO:0017635 Orphanet:1980 Orphanet:306666 obsolete parkinsonian syndrome due to neurodegenerative disease +MONDO:0008947 bilateral striopallidodentate calcinosis MONDO:0017661 Orphanet:1980 Orphanet:307055 obsolete rare parkinsonian syndrome due to genetic neurodegenerative disease +MONDO:0008947 bilateral striopallidodentate calcinosis MONDO:0019515 Orphanet:1980 Orphanet:89043 obsolete rare dementia +MONDO:0008947 bilateral striopallidodentate calcinosis MONDO:0035862 Orphanet:1980 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome +MONDO:0008948 cerebrotendinous xanthomatosis MONDO:0015581 Orphanet:909 Orphanet:163631 obsolete bile acid synthesis defect with cholestasis and malabsorption +MONDO:0008948 cerebrotendinous xanthomatosis MONDO:0015949 Orphanet:909 Orphanet:183484 obsolete rare genetic subcutaneous tissue disorder +MONDO:0008948 cerebrotendinous xanthomatosis MONDO:0016133 Orphanet:909 Orphanet:207018 obsolete rare hereditary metabolic disease with peripheral neuropathy +MONDO:0008948 cerebrotendinous xanthomatosis MONDO:0016405 Orphanet:909 Orphanet:225710 obsolete sterol metabolism disorder with epilepsy +MONDO:0008948 cerebrotendinous xanthomatosis MONDO:0019058 Orphanet:909 Orphanet:68385 obsolete neurometabolic disease +MONDO:0008948 cerebrotendinous xanthomatosis MONDO:0020228 Orphanet:909 Orphanet:98644 obsolete cataract associated with a metabolic disease +MONDO:0008948 cerebrotendinous xanthomatosis MONDO:0035862 Orphanet:909 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome +MONDO:0008959 CHAND syndrome MONDO:0015501 Orphanet:1401 Orphanet:156237 obsolete syndrome or malformation associated with head and neck malformations +MONDO:0008959 CHAND syndrome MONDO:8000032 Orphanet:1401 Orphanet:377789 obsolete malformation syndrome +MONDO:0008960 Charcot-Marie-Tooth disease-hearing loss-intellectual disability syndrome MONDO:0015361 Orphanet:90103 Orphanet:140459 obsolete autosomal recessive hereditary demyelinating motor and sensory neuropathy +MONDO:0008960 Charcot-Marie-Tooth disease-hearing loss-intellectual disability syndrome MONDO:0019589 Orphanet:90103 Orphanet:90642 obsolete syndromic genetic hearing loss +MONDO:0008960 Charcot-Marie-Tooth disease-hearing loss-intellectual disability syndrome MONDO:0035862 Orphanet:90103 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome +MONDO:0008960 Charcot-Marie-Tooth disease-hearing loss-intellectual disability syndrome MONDO:8000032 Orphanet:90103 Orphanet:377789 obsolete malformation syndrome +MONDO:0008962 Griscelli syndrome type 1 MONDO:0015144 Orphanet:79476 Orphanet:102005 obsolete brain inflammatory disease +MONDO:0008962 Griscelli syndrome type 1 MONDO:8000031 Orphanet:79476 Orphanet:557494 obsolete subtype of a disorder +MONDO:0008963 Chediak-Higashi syndrome MONDO:0015918 Orphanet:167 Orphanet:182070 obsolete rare neurodegenerative disease +MONDO:0008963 Chediak-Higashi syndrome MONDO:0016132 Orphanet:167 Orphanet:207015 obsolete rare hereditary disease with peripheral neuropathy +MONDO:0008963 Chediak-Higashi syndrome MONDO:0018042 Orphanet:167 Orphanet:331249 obsolete immunodeficiency syndrome with abnormal pigmentation +MONDO:0008963 Chediak-Higashi syndrome MONDO:0019305 Orphanet:167 Orphanet:79391 obsolete immune deficiency with skin involvement +MONDO:0008963 Chediak-Higashi syndrome MONDO:0020118 Orphanet:167 Orphanet:98456 obsolete dense granule disease +MONDO:0008963 Chediak-Higashi syndrome MONDO:0026166 Orphanet:167 Orphanet:183494 obsolete genetic immune deficiency with skin involvement +MONDO:0008964 congenital secretory chloride diarrhea 1 MONDO:0015178 Orphanet:53689 Orphanet:104003 obsolete congenital intestinal transport defect +MONDO:0008965 CHARGE syndrome MONDO:0015501 Orphanet:138 Orphanet:156237 obsolete syndrome or malformation associated with head and neck malformations +MONDO:0008965 CHARGE syndrome MONDO:0015506 Orphanet:138 Orphanet:156532 obsolete rare syndrome with cardiac malformations +MONDO:0008965 CHARGE syndrome MONDO:0015620 Orphanet:138 Orphanet:165707 obsolete syndromic urogenital tract malformation +MONDO:0008965 CHARGE syndrome MONDO:0015890 Orphanet:138 Orphanet:181387 obsolete rare disorder with congenital hypogonadotropic hypogonadism +MONDO:0008965 CHARGE syndrome MONDO:0018036 Orphanet:138 Orphanet:331220 obsolete immunodeficiency due to absence of thymus +MONDO:0008965 CHARGE syndrome MONDO:0019589 Orphanet:138 Orphanet:90642 obsolete syndromic genetic hearing loss +MONDO:0008965 CHARGE syndrome MONDO:0019721 Orphanet:138 Orphanet:93547 obsolete syndromic renal or urinary tract malformation +MONDO:0008965 CHARGE syndrome MONDO:0020237 Orphanet:138 Orphanet:98655 obsolete lens shape anomaly +MONDO:0008965 CHARGE syndrome MONDO:0032221 Orphanet:138 Orphanet:399846 obsolete rare disorder with female infertility due to a congenital hypogonadotropic hypogonadism +MONDO:0008965 CHARGE syndrome MONDO:0035863 Orphanet:138 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0008965 CHARGE syndrome MONDO:8000032 Orphanet:138 Orphanet:377789 obsolete malformation syndrome +MONDO:0008966 Aagenaes syndrome MONDO:0015507 Orphanet:1414 Orphanet:156601 obsolete rare genetic hepatic disease +MONDO:0008966 Aagenaes syndrome MONDO:0018928 Orphanet:1414 Orphanet:57146 obsolete rare hepatic disease +MONDO:0008967 congenital bile acid synthesis defect 4 MONDO:0016133 Orphanet:79095 Orphanet:207018 obsolete rare hereditary metabolic disease with peripheral neuropathy +MONDO:0008967 congenital bile acid synthesis defect 4 MONDO:0017753 Orphanet:79095 Orphanet:309810 obsolete disorder of peroxisomal alpha-, beta- and omega-oxidation +MONDO:0008970 chondrodysplasia Blomstrand type MONDO:0020225 Orphanet:50945 Orphanet:98641 obsolete syndromic cataract +MONDO:0008970 chondrodysplasia Blomstrand type MONDO:8000032 Orphanet:50945 Orphanet:377789 obsolete malformation syndrome +MONDO:0008972 rhizomelic chondrodysplasia punctata type 1 MONDO:8000031 Orphanet:309789 Orphanet:557494 obsolete subtype of a disorder +MONDO:0008973 chondrodysplasia punctata, Toriello type MONDO:8000032 Orphanet:79347 Orphanet:377789 obsolete malformation syndrome +MONDO:0008975 otospondylomegaepiphyseal dysplasia MONDO:0800087 Orphanet:1427 Orphanet:93422 obsolete type 11 collagen-related bone disorder +MONDO:0008978 chordoma MONDO:0015081 Orphanet:178 Orphanet:100101 obsolete neuroendocrine tumor with other location +MONDO:0008978 chordoma MONDO:0015959 Orphanet:178 Orphanet:183527 obsolete inherited syndrome with bone tumors as a major feature +MONDO:0008978 chordoma MONDO:0019833 Orphanet:178 Orphanet:95503 obsolete pituitary hormone deficiency from tumoral origin +MONDO:0008978 chordoma MONDO:0025511 Orphanet:178 Orphanet:271847 obsolete inherited neuroendocrine tumor +MONDO:0008980 ataxia-hypogonadism-choroidal dystrophy syndrome MONDO:0015890 Orphanet:1180 Orphanet:181387 obsolete rare disorder with congenital hypogonadotropic hypogonadism +MONDO:0008980 ataxia-hypogonadism-choroidal dystrophy syndrome MONDO:0034953 Orphanet:1180 Orphanet:519325 obsolete syndromic inherited retinal disorder +MONDO:0008981 infantile choroidocerebral calcification syndrome MONDO:0020253 Orphanet:1313 Orphanet:98683 obsolete syndrome with a symptomatic strabismus +MONDO:0008981 infantile choroidocerebral calcification syndrome MONDO:0035862 Orphanet:1313 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome +MONDO:0008991 Verloove Vanhorick-Brubakk syndrome MONDO:0015335 Orphanet:3429 Orphanet:139039 obsolete Mendelian syndromes with cleft lip/palate +MONDO:0008991 Verloove Vanhorick-Brubakk syndrome MONDO:0043008 Orphanet:3429 Orphanet:330206 obsolete genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability +MONDO:0008991 Verloove Vanhorick-Brubakk syndrome MONDO:8000032 Orphanet:3429 Orphanet:377789 obsolete malformation syndrome +MONDO:0008992 Juberg-Hayward syndrome MONDO:0015335 Orphanet:2319 Orphanet:139039 obsolete Mendelian syndromes with cleft lip/palate +MONDO:0008992 Juberg-Hayward syndrome MONDO:0043008 Orphanet:2319 Orphanet:330206 obsolete genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability +MONDO:0008992 Juberg-Hayward syndrome MONDO:8000032 Orphanet:2319 Orphanet:377789 obsolete malformation syndrome +MONDO:0008993 cleft palate-stapes fixation-oligodontia syndrome MONDO:0015336 Orphanet:2010 Orphanet:139042 obsolete malformation syndrome with odontal and/or periodontal component +MONDO:0008993 cleft palate-stapes fixation-oligodontia syndrome MONDO:0026190 Orphanet:2010 Orphanet:183580 obsolete genetic malformation syndrome with odontal and/or periodontal component +MONDO:0008993 cleft palate-stapes fixation-oligodontia syndrome MONDO:8000032 Orphanet:2010 Orphanet:377789 obsolete malformation syndrome +MONDO:0008995 Yunis-Varon syndrome MONDO:0019709 Orphanet:3472 Orphanet:93451 obsolete cleidocranial dysplasia and isolated cranial ossification defect +MONDO:0008995 Yunis-Varon syndrome MONDO:0035863 Orphanet:3472 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0008995 Yunis-Varon syndrome MONDO:8000032 Orphanet:3472 Orphanet:377789 obsolete malformation syndrome +MONDO:0008998 Cockayne syndrome type 3 MONDO:8000031 Orphanet:90324 Orphanet:557494 obsolete subtype of a disorder +MONDO:0008999 Cohen syndrome MONDO:0016565 Orphanet:193 Orphanet:240371 obsolete syndromic genetic obesity +MONDO:0008999 Cohen syndrome MONDO:0018032 Orphanet:193 Orphanet:331184 obsolete constitutional neutropenia with extra-hematopoietic manifestations +MONDO:0008999 Cohen syndrome MONDO:0020240 Orphanet:193 Orphanet:98661 obsolete syndromic retinitis pigmentosa +MONDO:0008999 Cohen syndrome MONDO:0035863 Orphanet:193 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0008999 Cohen syndrome MONDO:8000032 Orphanet:193 Orphanet:377789 obsolete malformation syndrome +MONDO:0009001 macular coloboma-cleft palate-hallux valgus syndrome MONDO:0015335 Orphanet:91494 Orphanet:139039 obsolete Mendelian syndromes with cleft lip/palate +MONDO:0009001 macular coloboma-cleft palate-hallux valgus syndrome MONDO:0020145 Orphanet:91494 Orphanet:98553 obsolete developmental defect of the eye +MONDO:0009001 macular coloboma-cleft palate-hallux valgus syndrome MONDO:0026186 Orphanet:91494 Orphanet:183557 obsolete genetic developmental defect of the eye +MONDO:0009001 macular coloboma-cleft palate-hallux valgus syndrome MONDO:8000032 Orphanet:91494 Orphanet:377789 obsolete malformation syndrome +MONDO:0009007 Jalili syndrome MONDO:0015336 Orphanet:1873 Orphanet:139042 obsolete malformation syndrome with odontal and/or periodontal component +MONDO:0009007 Jalili syndrome MONDO:0026190 Orphanet:1873 Orphanet:183580 obsolete genetic malformation syndrome with odontal and/or periodontal component +MONDO:0009007 Jalili syndrome MONDO:0034953 Orphanet:1873 Orphanet:519325 obsolete syndromic inherited retinal disorder +MONDO:0009007 Jalili syndrome MONDO:8000032 Orphanet:1873 Orphanet:377789 obsolete malformation syndrome +MONDO:0009008 heart defect - tongue hamartoma - polysyndactyly syndrome MONDO:0043008 Orphanet:1338 Orphanet:330206 obsolete genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability +MONDO:0009008 heart defect - tongue hamartoma - polysyndactyly syndrome MONDO:8000032 Orphanet:1338 Orphanet:377789 obsolete malformation syndrome +MONDO:0009009 hypoplasminogenemia MONDO:0020198 Orphanet:722 Orphanet:98610 obsolete rare conjunctival disease +MONDO:0009009 hypoplasminogenemia MONDO:0028795 Orphanet:722 Orphanet:271870 obsolete rare genetic systemic or rheumatologic disease +MONDO:0009010 aortic arch interruption MONDO:0020286 Orphanet:2299 Orphanet:98718 obsolete aortic malformation +MONDO:0009010 aortic arch interruption MONDO:8000030 Orphanet:2299 Orphanet:377791 obsolete morphological anomaly +MONDO:0009012 multiple pterygium-malignant hyperthermia syndrome MONDO:0015501 Orphanet:2215 Orphanet:156237 obsolete syndrome or malformation associated with head and neck malformations +MONDO:0009012 multiple pterygium-malignant hyperthermia syndrome MONDO:0018753 Orphanet:2215 Orphanet:466658 obsolete rare disease with malignant hyperthermia +MONDO:0009012 multiple pterygium-malignant hyperthermia syndrome MONDO:8000032 Orphanet:2215 Orphanet:377789 obsolete malformation syndrome +MONDO:0009015 corneal dystrophy-perceptive deafness syndrome MONDO:0019589 Orphanet:1490 Orphanet:90642 obsolete syndromic genetic hearing loss +MONDO:0009015 corneal dystrophy-perceptive deafness syndrome MONDO:0020215 Orphanet:1490 Orphanet:98628 obsolete syndromic corneal dystrophy +MONDO:0009015 corneal dystrophy-perceptive deafness syndrome MONDO:8000032 Orphanet:1490 Orphanet:377789 obsolete malformation syndrome +MONDO:0009021 Toriello-Carey syndrome MONDO:0015335 Orphanet:3338 Orphanet:139039 obsolete Mendelian syndromes with cleft lip/palate +MONDO:0009021 Toriello-Carey syndrome MONDO:0016055 Orphanet:3338 Orphanet:199639 obsolete syndrome with corpus callosum agenesis /dysgenesis as a major feature +MONDO:0009021 Toriello-Carey syndrome MONDO:0017122 Orphanet:3338 Orphanet:269573 obsolete genetic syndrome with corpus callosum agenesis/dysgenesis as a major feature +MONDO:0009021 Toriello-Carey syndrome MONDO:0035863 Orphanet:3338 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0009021 Toriello-Carey syndrome MONDO:8000032 Orphanet:3338 Orphanet:377789 obsolete malformation syndrome +MONDO:0009024 cortical blindness-intellectual disability-polydactyly syndrome MONDO:0034962 Orphanet:1389 Orphanet:519343 obsolete rare ophthalmic disorder with cortical involvement +MONDO:0009024 cortical blindness-intellectual disability-polydactyly syndrome MONDO:0035863 Orphanet:1389 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0009024 cortical blindness-intellectual disability-polydactyly syndrome MONDO:8000032 Orphanet:1389 Orphanet:377789 obsolete malformation syndrome +MONDO:0009025 apparent mineralocorticoid excess MONDO:0015124 Orphanet:320 Orphanet:101954 obsolete rare adrenal disease +MONDO:0009025 apparent mineralocorticoid excess MONDO:0015512 Orphanet:320 Orphanet:156629 obsolete genetic hypertension +MONDO:0009025 apparent mineralocorticoid excess MONDO:0015971 Orphanet:320 Orphanet:183637 obsolete rare genetic adrenal disease +MONDO:0009026 Costello syndrome MONDO:0015331 Orphanet:3071 Orphanet:139027 obsolete malformation syndrome with skin/mucosae involvement +MONDO:0009026 Costello syndrome MONDO:0015945 Orphanet:3071 Orphanet:183422 obsolete polymalformative genetic syndrome with increased risk of developing cancer +MONDO:0009026 Costello syndrome MONDO:0018792 Orphanet:3071 Orphanet:477771 obsolete Moyamoya syndrome +MONDO:0009026 Costello syndrome MONDO:0026989 Orphanet:3071 Orphanet:217595 obsolete syndrome associated with hypertrophic cardiomyopathy +MONDO:0009026 Costello syndrome MONDO:0035863 Orphanet:3071 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0009026 Costello syndrome MONDO:8000032 Orphanet:3071 Orphanet:377789 obsolete malformation syndrome +MONDO:0009028 Crane-Heise syndrome MONDO:0015335 Orphanet:1512 Orphanet:139039 obsolete Mendelian syndromes with cleft lip/palate +MONDO:0009028 Crane-Heise syndrome MONDO:0035863 Orphanet:1512 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0009028 Crane-Heise syndrome MONDO:8000032 Orphanet:1512 Orphanet:377789 obsolete malformation syndrome +MONDO:0009031 craniodiaphyseal dysplasia MONDO:0020018 Orphanet:1513 Orphanet:98038 obsolete cranial malformation +MONDO:0009031 craniodiaphyseal dysplasia MONDO:0026182 Orphanet:1513 Orphanet:183542 obsolete genetic cranial malformation +MONDO:0009031 craniodiaphyseal dysplasia MONDO:0800084 Orphanet:1513 Orphanet:93444 obsolete primary bone dysplasia with increased bone density +MONDO:0009031 craniodiaphyseal dysplasia MONDO:8000032 Orphanet:1513 Orphanet:377789 obsolete malformation syndrome +MONDO:0009032 cranioectodermal dysplasia MONDO:0020240 Orphanet:1515 Orphanet:98661 obsolete syndromic retinitis pigmentosa +MONDO:0009032 cranioectodermal dysplasia MONDO:0022409 Orphanet:1515 Orphanet:156162 obsolete nephropathy-associated ciliopathy +MONDO:0009032 cranioectodermal dysplasia MONDO:8000032 Orphanet:1515 Orphanet:377789 obsolete malformation syndrome +MONDO:0009033 temtamy syndrome MONDO:0016055 Orphanet:1777 Orphanet:199639 obsolete syndrome with corpus callosum agenesis /dysgenesis as a major feature +MONDO:0009033 temtamy syndrome MONDO:0017122 Orphanet:1777 Orphanet:269573 obsolete genetic syndrome with corpus callosum agenesis/dysgenesis as a major feature +MONDO:0009033 temtamy syndrome MONDO:0035863 Orphanet:1777 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0009033 temtamy syndrome MONDO:8000032 Orphanet:1777 Orphanet:377789 obsolete malformation syndrome +MONDO:0009034 craniofacial dyssynostosis MONDO:8000032 Orphanet:1516 Orphanet:377789 obsolete malformation syndrome +MONDO:0009036 cardiocranial syndrome, Pfeiffer type MONDO:0035863 Orphanet:2872 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0009036 cardiocranial syndrome, Pfeiffer type MONDO:8000032 Orphanet:2872 Orphanet:377789 obsolete malformation syndrome +MONDO:0009039 Baller-Gerold syndrome MONDO:0015246 Orphanet:1225 Orphanet:117573 obsolete syndromic anorectal malformation +MONDO:0009039 Baller-Gerold syndrome MONDO:8000032 Orphanet:1225 Orphanet:377789 obsolete malformation syndrome +MONDO:0009042 craniotelencephalic dysplasia MONDO:0015147 Orphanet:1528 Orphanet:102010 obsolete other syndrome with lissencephaly as a major feature +MONDO:0009042 craniotelencephalic dysplasia MONDO:8000032 Orphanet:1528 Orphanet:377789 obsolete malformation syndrome +MONDO:0009044 Crigler-Najjar syndrome MONDO:0015115 Orphanet:205 Orphanet:101940 obsolete rare genetic metabolic liver disease +MONDO:0009045 cataract-nephropathy-encephalopathy syndrome MONDO:0019744 Orphanet:1380 Orphanet:93603 obsolete rare renal tubular disease +MONDO:0009045 cataract-nephropathy-encephalopathy syndrome MONDO:0020225 Orphanet:1380 Orphanet:98641 obsolete syndromic cataract +MONDO:0009045 cataract-nephropathy-encephalopathy syndrome MONDO:8000032 Orphanet:1380 Orphanet:377789 obsolete malformation syndrome +MONDO:0009046 Fraser syndrome MONDO:0015246 Orphanet:2052 Orphanet:117573 obsolete syndromic anorectal malformation +MONDO:0009046 Fraser syndrome MONDO:0019589 Orphanet:2052 Orphanet:90642 obsolete syndromic genetic hearing loss +MONDO:0009046 Fraser syndrome MONDO:0019721 Orphanet:2052 Orphanet:93547 obsolete syndromic renal or urinary tract malformation +MONDO:0009046 Fraser syndrome MONDO:0035863 Orphanet:2052 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0009046 Fraser syndrome MONDO:0043008 Orphanet:2052 Orphanet:330206 obsolete genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability +MONDO:0009046 Fraser syndrome MONDO:8000032 Orphanet:2052 Orphanet:377789 obsolete malformation syndrome +MONDO:0009049 Cushing syndrome due to macronodular adrenal hyperplasia MONDO:0015971 Orphanet:189427 Orphanet:183637 obsolete rare genetic adrenal disease +MONDO:0009049 Cushing syndrome due to macronodular adrenal hyperplasia MONDO:0018387 Orphanet:189427 Orphanet:399584 obsolete rare male infertility due to adrenal disorder +MONDO:0009049 Cushing syndrome due to macronodular adrenal hyperplasia MONDO:0018406 Orphanet:189427 Orphanet:399994 obsolete rare male infertility due to adrenal disorder of genetic origin +MONDO:0009051 cutaneous photosensitivity-lethal colitis syndrome MONDO:0015187 Orphanet:2881 Orphanet:104012 obsolete rare inflammatory bowel disease +MONDO:0009053 ALDH18A1-related de Barsy syndrome MONDO:8000031 Orphanet:35664 Orphanet:557494 obsolete subtype of a disorder +MONDO:0009054 autosomal recessive cutis laxa type 2, classic type MONDO:8000031 Orphanet:357074 Orphanet:557494 obsolete subtype of a disorder +MONDO:0009055 cutis marmorata telangiectatica congenita MONDO:8000032 Orphanet:1556 Orphanet:377789 obsolete malformation syndrome +MONDO:0009061 cystic fibrosis MONDO:0015112 Orphanet:586 Orphanet:101937 obsolete rare pancreatic disease +MONDO:0009061 cystic fibrosis MONDO:0015116 Orphanet:586 Orphanet:101941 obsolete rare biliary tract disease +MONDO:0009061 cystic fibrosis MONDO:0015118 Orphanet:586 Orphanet:101944 obsolete rare pulmonary disease +MONDO:0009061 cystic fibrosis MONDO:0015509 Orphanet:586 Orphanet:156607 obsolete hereditary biliary tract disease +MONDO:0009061 cystic fibrosis MONDO:0015510 Orphanet:586 Orphanet:156610 obsolete rare genetic respiratory disease +MONDO:0009061 cystic fibrosis MONDO:0015618 Orphanet:586 Orphanet:165661 obsolete genetic pancreatic disease +MONDO:0009061 cystic fibrosis MONDO:0018396 Orphanet:586 Orphanet:399824 obsolete rare male fertility disorder with obstructive azoospermia +MONDO:0009061 cystic fibrosis MONDO:0018409 Orphanet:586 Orphanet:400003 obsolete rare genetic disorder with obstructive azoospermia +MONDO:0009062 cystic fibrosis-gastritis-megaloblastic anemia syndrome MONDO:0015111 Orphanet:2575 Orphanet:101936 obsolete gastroesophageal disease +MONDO:0009062 cystic fibrosis-gastritis-megaloblastic anemia syndrome MONDO:0015617 Orphanet:2575 Orphanet:165658 obsolete hereditary gastro-esophageal disease +MONDO:0009063 ventriculomegaly-cystic kidney disease MONDO:0017120 Orphanet:443988 Orphanet:269531 obsolete other syndrome with a central nervous system malformation as major feature +MONDO:0009064 ocular cystinosis MONDO:0020215 Orphanet:411641 Orphanet:98628 obsolete syndromic corneal dystrophy +MONDO:0009064 ocular cystinosis MONDO:8000031 Orphanet:411641 Orphanet:557494 obsolete subtype of a disorder +MONDO:0009066 juvenile nephropathic cystinosis MONDO:0019743 Orphanet:411634 Orphanet:93593 obsolete nephropathy secondary to a storage or other metabolic disease +MONDO:0009066 juvenile nephropathic cystinosis MONDO:8000031 Orphanet:411634 Orphanet:557494 obsolete subtype of a disorder +MONDO:0009067 cystinuria MONDO:0019744 Orphanet:214 Orphanet:93603 obsolete rare renal tubular disease +MONDO:0009068 cytochrome-c oxidase deficiency disease MONDO:0016805 Orphanet:254905 Orphanet:254846 obsolete isolated oxidative phosphorylation complex disorder +MONDO:0009068 cytochrome-c oxidase deficiency disease MONDO:0035862 Orphanet:254905 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome +MONDO:0009069 congenital lactic acidosis, Saguenay-Lac-Saint-Jean type MONDO:0016402 Orphanet:70472 Orphanet:225700 obsolete mitochondrial disease with epilepsy +MONDO:0009069 congenital lactic acidosis, Saguenay-Lac-Saint-Jean type MONDO:0016403 Orphanet:70472 Orphanet:225703 obsolete mitochondrial disease with peripheral neuropathy +MONDO:0009069 congenital lactic acidosis, Saguenay-Lac-Saint-Jean type MONDO:0016578 Orphanet:70472 Orphanet:2443 obsolete mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies +MONDO:0009069 congenital lactic acidosis, Saguenay-Lac-Saint-Jean type MONDO:0019058 Orphanet:70472 Orphanet:68385 obsolete neurometabolic disease +MONDO:0009071 hereditary renal hypouricemia MONDO:0019744 Orphanet:94088 Orphanet:93603 obsolete rare renal tubular disease +MONDO:0009071 hereditary renal hypouricemia MONDO:8000032 Orphanet:94088 Orphanet:377789 obsolete malformation syndrome +MONDO:0009072 Dandy-Walker syndrome MONDO:0020133 Orphanet:217 Orphanet:98519 obsolete posterior fossa malformation +MONDO:0009072 Dandy-Walker syndrome MONDO:0957009 Orphanet:217 Orphanet:269557 obsolete hereditary posterior fossa malformation +MONDO:0009072 Dandy-Walker syndrome MONDO:8000030 Orphanet:217 Orphanet:377791 obsolete morphological anomaly +MONDO:0009074 facial dysmorphism-macrocephaly-myopia-Dandy-Walker malformation syndrome MONDO:0017121 Orphanet:1970 Orphanet:269546 obsolete syndrome with a Dandy-Walker malformation as major feature +MONDO:0009074 facial dysmorphism-macrocephaly-myopia-Dandy-Walker malformation syndrome MONDO:0035863 Orphanet:1970 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0009074 facial dysmorphism-macrocephaly-myopia-Dandy-Walker malformation syndrome MONDO:8000032 Orphanet:1970 Orphanet:377789 obsolete malformation syndrome +MONDO:0009075 Dandy-Walker malformation-postaxial polydactyly syndrome MONDO:0017121 Orphanet:1566 Orphanet:269546 obsolete syndrome with a Dandy-Walker malformation as major feature +MONDO:0009075 Dandy-Walker malformation-postaxial polydactyly syndrome MONDO:0017434 Orphanet:1566 Orphanet:294959 obsolete syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy +MONDO:0009075 Dandy-Walker malformation-postaxial polydactyly syndrome MONDO:8000032 Orphanet:1566 Orphanet:377789 obsolete malformation syndrome +MONDO:0009079 DOORS syndrome MONDO:0017922 Orphanet:79500 Orphanet:3231 obsolete deafness-onychodystrophy syndrome +MONDO:0009079 DOORS syndrome MONDO:8000032 Orphanet:79500 Orphanet:377789 obsolete malformation syndrome +MONDO:0009080 split hand-foot malformation 1 with sensorineural hearing loss MONDO:0017432 Orphanet:71271 Orphanet:294955 obsolete syndrome with limb reduction defects +MONDO:0009080 split hand-foot malformation 1 with sensorineural hearing loss MONDO:0017434 Orphanet:71271 Orphanet:294959 obsolete syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy +MONDO:0009080 split hand-foot malformation 1 with sensorineural hearing loss MONDO:0019589 Orphanet:71271 Orphanet:90642 obsolete syndromic genetic hearing loss +MONDO:0009080 split hand-foot malformation 1 with sensorineural hearing loss MONDO:0043008 Orphanet:71271 Orphanet:330206 obsolete genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability +MONDO:0009080 split hand-foot malformation 1 with sensorineural hearing loss MONDO:8000032 Orphanet:71271 Orphanet:377789 obsolete malformation syndrome +MONDO:0009082 high myopia-sensorineural deafness syndrome MONDO:0019589 Orphanet:363396 Orphanet:90642 obsolete syndromic genetic hearing loss +MONDO:0009083 conductive deafness-malformed external ear syndrome MONDO:0019589 Orphanet:3216 Orphanet:90642 obsolete syndromic genetic hearing loss +MONDO:0009083 conductive deafness-malformed external ear syndrome MONDO:8000032 Orphanet:3216 Orphanet:377789 obsolete malformation syndrome +MONDO:0009084 conductive deafness-ptosis-skeletal anomalies syndrome MONDO:8000032 Orphanet:3236 Orphanet:377789 obsolete malformation syndrome +MONDO:0009085 deafness-vitiligo-achalasia syndrome MONDO:0019589 Orphanet:3239 Orphanet:90642 obsolete syndromic genetic hearing loss +MONDO:0009085 deafness-vitiligo-achalasia syndrome MONDO:8000032 Orphanet:3239 Orphanet:377789 obsolete malformation syndrome +MONDO:0009086 deafness-small bowel diverticulosis-neuropathy syndrome MONDO:0019589 Orphanet:3217 Orphanet:90642 obsolete syndromic genetic hearing loss +MONDO:0009089 deafness-oligodontia syndrome MONDO:0015336 Orphanet:3230 Orphanet:139042 obsolete malformation syndrome with odontal and/or periodontal component +MONDO:0009089 deafness-oligodontia syndrome MONDO:0019589 Orphanet:3230 Orphanet:90642 obsolete syndromic genetic hearing loss +MONDO:0009089 deafness-oligodontia syndrome MONDO:0026190 Orphanet:3230 Orphanet:183580 obsolete genetic malformation syndrome with odontal and/or periodontal component +MONDO:0009089 deafness-oligodontia syndrome MONDO:8000032 Orphanet:3230 Orphanet:377789 obsolete malformation syndrome +MONDO:0009091 non-acquired combined pituitary hormone deficiency with spine abnormalities MONDO:0019589 Orphanet:231720 Orphanet:90642 obsolete syndromic genetic hearing loss +MONDO:0009091 non-acquired combined pituitary hormone deficiency with spine abnormalities MONDO:0019827 Orphanet:231720 Orphanet:95495 obsolete disease associated with non-acquired combined pituitary hormone deficiency +MONDO:0009091 non-acquired combined pituitary hormone deficiency with spine abnormalities MONDO:8000032 Orphanet:231720 Orphanet:377789 obsolete malformation syndrome +MONDO:0009092 polycystic lipomembranous osteodysplasia with sclerosing leukoencephaly MONDO:0020136 Orphanet:2770 Orphanet:98534 obsolete neurodegenerative disease with dementia +MONDO:0009092 polycystic lipomembranous osteodysplasia with sclerosing leukoencephaly MONDO:0021037 Orphanet:2770 Orphanet:276058 obsolete genetic neurodegenerative disease with dementia +MONDO:0009092 polycystic lipomembranous osteodysplasia with sclerosing leukoencephaly MONDO:0800089 Orphanet:2770 Orphanet:93450 obsolete primary bone dysplasia with disorganized development of skeletal components +MONDO:0009092 polycystic lipomembranous osteodysplasia with sclerosing leukoencephaly MONDO:8000032 Orphanet:2770 Orphanet:377789 obsolete malformation syndrome +MONDO:0009094 dermochondrocorneal dystrophy MONDO:0018798 Orphanet:79149 Orphanet:477808 obsolete other genetic dermis disorder +MONDO:0009094 dermochondrocorneal dystrophy MONDO:0020215 Orphanet:79149 Orphanet:98628 obsolete syndromic corneal dystrophy +MONDO:0009095 dermatoosteolysis, Kirghizian type MONDO:8000032 Orphanet:1657 Orphanet:377789 obsolete malformation syndrome +MONDO:0009099 nephrogenic diabetes insipidus-intracranial calcification syndrome MONDO:0019744 Orphanet:3145 Orphanet:93603 obsolete rare renal tubular disease +MONDO:0009104 Donnai-Barrow syndrome MONDO:0015216 Orphanet:2143 Orphanet:108979 obsolete syndromic diaphragmatic or abdominal wall malformation +MONDO:0009104 Donnai-Barrow syndrome MONDO:0015880 Orphanet:2143 Orphanet:180779 obsolete syndromic diaphragmatic or thoracic malformation +MONDO:0009104 Donnai-Barrow syndrome MONDO:0035863 Orphanet:2143 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0009104 Donnai-Barrow syndrome MONDO:8000032 Orphanet:2143 Orphanet:377789 obsolete malformation syndrome +MONDO:0009105 trichohepatoenteric syndrome MONDO:0015114 Orphanet:84064 Orphanet:101939 obsolete rare parenchymal liver disease +MONDO:0009105 trichohepatoenteric syndrome MONDO:0015508 Orphanet:84064 Orphanet:156604 obsolete hereditary parenchymatous liver disease +MONDO:0009105 trichohepatoenteric syndrome MONDO:0015710 Orphanet:84064 Orphanet:169361 obsolete immune dysregulation disease with immunodeficiency +MONDO:0009105 trichohepatoenteric syndrome MONDO:0018782 Orphanet:84064 Orphanet:477647 obsolete type 1 interferonopathy +MONDO:0009105 trichohepatoenteric syndrome MONDO:0019126 Orphanet:84064 Orphanet:73014 obsolete intractable diarrhea of infancy +MONDO:0009105 trichohepatoenteric syndrome MONDO:0031697 Orphanet:84064 Orphanet:363300 obsolete genetic intractable diarrhea of infancy +MONDO:0009106 diastematomyelia MONDO:0035542 Orphanet:1671 Orphanet:573278 obsolete split cord malformation +MONDO:0009106 diastematomyelia MONDO:8000030 Orphanet:1671 Orphanet:377791 obsolete morphological anomaly +MONDO:0009107 diastrophic dysplasia MONDO:0018232 Orphanet:628 Orphanet:364536 obsolete primary bone dysplasia with micromelia +MONDO:0009107 diastrophic dysplasia MONDO:0019688 Orphanet:628 Orphanet:93423 obsolete sulfation-related bone disorder +MONDO:0009112 rhizomelic chondrodysplasia punctata type 2 MONDO:8000031 Orphanet:309796 Orphanet:557494 obsolete subtype of a disorder +MONDO:0009113 hemolytic anemia due to diphosphoglycerate mutase deficiency MONDO:0019602 Orphanet:714 Orphanet:91088 obsolete other inborn metabolic disease +MONDO:0009113 hemolytic anemia due to diphosphoglycerate mutase deficiency MONDO:0020106 Orphanet:714 Orphanet:98372 obsolete hemolytic anemia due to a disorder of glycolytic enzymes +MONDO:0009114 congenital sucrase-isomaltase deficiency MONDO:0015181 Orphanet:35122 Orphanet:104006 obsolete congenital intestinal disease due to an enzymatic defect +MONDO:0009115 congenital lactase deficiency MONDO:0015181 Orphanet:53690 Orphanet:104006 obsolete congenital intestinal disease due to an enzymatic defect +MONDO:0009120 diverticulosis of bowel, hernia, and retinal detachment MONDO:0015212 Orphanet:2464 Orphanet:108969 obsolete syndromic intestinal malformation +MONDO:0009120 diverticulosis of bowel, hernia, and retinal detachment MONDO:8000032 Orphanet:2464 Orphanet:377789 obsolete malformation syndrome +MONDO:0009121 von Voss-Cherstvoy syndrome MONDO:0043008 Orphanet:3439 Orphanet:330206 obsolete genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability +MONDO:0009121 von Voss-Cherstvoy syndrome MONDO:8000032 Orphanet:3439 Orphanet:377789 obsolete malformation syndrome +MONDO:0009123 orthostatic hypotension 1 MONDO:0019058 Orphanet:230 Orphanet:68385 obsolete neurometabolic disease +MONDO:0009123 orthostatic hypotension 1 MONDO:0020169 Orphanet:230 Orphanet:98578 obsolete rare disorder with ptosis +MONDO:0009124 Dubowitz syndrome MONDO:0015329 Orphanet:235 Orphanet:139021 obsolete malformation syndrome with short stature +MONDO:0009124 Dubowitz syndrome MONDO:0020169 Orphanet:235 Orphanet:98578 obsolete rare disorder with ptosis +MONDO:0009124 Dubowitz syndrome MONDO:0026187 Orphanet:235 Orphanet:183570 obsolete genetic malformation syndrome with short stature +MONDO:0009124 Dubowitz syndrome MONDO:0035863 Orphanet:235 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0009124 Dubowitz syndrome MONDO:8000032 Orphanet:235 Orphanet:377789 obsolete malformation syndrome +MONDO:0009126 duodenal atresia MONDO:0015209 Orphanet:1203 Orphanet:108963 obsolete non-syndromic gastroduodenal malformation +MONDO:0009126 duodenal atresia MONDO:0015211 Orphanet:1203 Orphanet:108967 obsolete non-syndromic intestinal malformation +MONDO:0009126 duodenal atresia MONDO:8000030 Orphanet:1203 Orphanet:377791 obsolete morphological anomaly +MONDO:0009130 Dyggve-Melchior-Clausen disease MONDO:0035863 Orphanet:239 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0009131 Riley-Day syndrome MONDO:0015366 Orphanet:1764 Orphanet:140477 obsolete autosomal recessive hereditary sensory and autonomic neuropathy +MONDO:0009131 Riley-Day syndrome MONDO:0018798 Orphanet:1764 Orphanet:477808 obsolete other genetic dermis disorder +MONDO:0009131 Riley-Day syndrome MONDO:0020194 Orphanet:1764 Orphanet:98604 obsolete congenital alacrima +MONDO:0009133 cerebellar ataxia, intellectual disability, and dysequilibrium MONDO:0035862 Orphanet:1766 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome +MONDO:0009138 dysosteosclerosis MONDO:8000032 Orphanet:1782 Orphanet:377789 obsolete malformation syndrome +MONDO:0009140 Silverman-Handmaker type dyssegmental dysplasia MONDO:0019689 Orphanet:1865 Orphanet:93424 obsolete perlecan-related bone disorder +MONDO:0009144 Ebstein anomaly MONDO:0018797 Orphanet:1880 Orphanet:477805 obsolete genetic cardiac malformation +MONDO:0009144 Ebstein anomaly MONDO:8000030 Orphanet:1880 Orphanet:377791 obsolete morphological anomaly +MONDO:0009145 SchC6pf-Schulz-Passarge syndrome MONDO:0015336 Orphanet:50944 Orphanet:139042 obsolete malformation syndrome with odontal and/or periodontal component +MONDO:0009145 SchC6pf-Schulz-Passarge syndrome MONDO:0015945 Orphanet:50944 Orphanet:183422 obsolete polymalformative genetic syndrome with increased risk of developing cancer +MONDO:0009145 SchC6pf-Schulz-Passarge syndrome MONDO:0017671 Orphanet:50944 Orphanet:307804 obsolete autosomal recessive disease with diffuse palmoplantar keratoderma as a major feature +MONDO:0009145 SchC6pf-Schulz-Passarge syndrome MONDO:0026190 Orphanet:50944 Orphanet:183580 obsolete genetic malformation syndrome with odontal and/or periodontal component +MONDO:0009146 ectodermal dysplasia-sensorineural deafness syndrome MONDO:0019589 Orphanet:1883 Orphanet:90642 obsolete syndromic genetic hearing loss +MONDO:0009146 ectodermal dysplasia-sensorineural deafness syndrome MONDO:8000032 Orphanet:1883 Orphanet:377789 obsolete malformation syndrome +MONDO:0009149 ectodermal dysplasia-intellectual disability-central nervous system malformation syndrome MONDO:0035863 Orphanet:1812 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0009149 ectodermal dysplasia-intellectual disability-central nervous system malformation syndrome MONDO:8000032 Orphanet:1812 Orphanet:377789 obsolete malformation syndrome +MONDO:0009150 hypohidrotic ectodermal dysplasia-hypothyroidism-ciliary dyskinesia syndrome MONDO:0015778 Orphanet:1882 Orphanet:177107 obsolete syndromic hypothyroidism +MONDO:0009150 hypohidrotic ectodermal dysplasia-hypothyroidism-ciliary dyskinesia syndrome MONDO:8000032 Orphanet:1882 Orphanet:377789 obsolete malformation syndrome +MONDO:0009151 cleft lip/palate-ectodermal dysplasia syndrome MONDO:0015335 Orphanet:3253 Orphanet:139039 obsolete Mendelian syndromes with cleft lip/palate +MONDO:0009151 cleft lip/palate-ectodermal dysplasia syndrome MONDO:0035862 Orphanet:3253 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome +MONDO:0009151 cleft lip/palate-ectodermal dysplasia syndrome MONDO:8000032 Orphanet:3253 Orphanet:377789 obsolete malformation syndrome +MONDO:0009155 EEM syndrome MONDO:0800090 Orphanet:1897 Orphanet:498477 obsolete ectrodactyly with and without other manifestations +MONDO:0009155 EEM syndrome MONDO:8000032 Orphanet:1897 Orphanet:377789 obsolete malformation syndrome +MONDO:0009156 ectrodactyly-polydactyly syndrome MONDO:0017434 Orphanet:1892 Orphanet:294959 obsolete syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy +MONDO:0009156 ectrodactyly-polydactyly syndrome MONDO:0800090 Orphanet:1892 Orphanet:498477 obsolete ectrodactyly with and without other manifestations +MONDO:0009156 ectrodactyly-polydactyly syndrome MONDO:8000032 Orphanet:1892 Orphanet:377789 obsolete malformation syndrome +MONDO:0009159 Ehlers-Danlos syndrome, cardiac valvular type MONDO:0015506 Orphanet:230851 Orphanet:156532 obsolete rare syndrome with cardiac malformations +MONDO:0009162 Ellis-van Creveld syndrome MONDO:0015506 Orphanet:289 Orphanet:156532 obsolete rare syndrome with cardiac malformations +MONDO:0009162 Ellis-van Creveld syndrome MONDO:0019721 Orphanet:289 Orphanet:93547 obsolete syndromic renal or urinary tract malformation +MONDO:0009162 Ellis-van Creveld syndrome MONDO:0022409 Orphanet:289 Orphanet:156162 obsolete nephropathy-associated ciliopathy +MONDO:0009162 Ellis-van Creveld syndrome MONDO:8000032 Orphanet:289 Orphanet:377789 obsolete malformation syndrome +MONDO:0009166 pontocerebellar hypoplasia type 4 MONDO:8000032 Orphanet:166063 Orphanet:377789 obsolete malformation syndrome +MONDO:0009167 Bonnemann-Meinecke-Reich syndrome MONDO:0035863 Orphanet:1261 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0009167 Bonnemann-Meinecke-Reich syndrome MONDO:8000032 Orphanet:1261 Orphanet:377789 obsolete malformation syndrome +MONDO:0009168 Fowler syndrome MONDO:0017120 Orphanet:221126 Orphanet:269531 obsolete other syndrome with a central nervous system malformation as major feature +MONDO:0009168 Fowler syndrome MONDO:8000032 Orphanet:221126 Orphanet:377789 obsolete malformation syndrome +MONDO:0009173 congenital enteropathy due to enteropeptidase deficiency MONDO:0015181 Orphanet:168601 Orphanet:104006 obsolete congenital intestinal disease due to an enzymatic defect +MONDO:0009174 protein-losing enteropathy MONDO:0015187 Orphanet:566175 Orphanet:104012 obsolete rare inflammatory bowel disease +MONDO:0009174 protein-losing enteropathy MONDO:0015616 Orphanet:566175 Orphanet:165655 obsolete rare genetic intestinal disease +MONDO:0009175 eosinophilic fasciitis MONDO:0019546 Orphanet:3165 Orphanet:90077 obsolete other acquired skin disease +MONDO:0009176 epidermodysplasia verruciformis MONDO:0018033 Orphanet:302 Orphanet:331193 obsolete other immunodeficiency syndromes due to defects in innate immunity +MONDO:0009176 epidermodysplasia verruciformis MONDO:0019305 Orphanet:302 Orphanet:79391 obsolete immune deficiency with skin involvement +MONDO:0009176 epidermodysplasia verruciformis MONDO:0026166 Orphanet:302 Orphanet:183494 obsolete genetic immune deficiency with skin involvement +MONDO:0009177 late-onset localized junctional epidermolysis bullosa-intellectual disability syndrome MONDO:0020014 Orphanet:231556 Orphanet:98027 obsolete rare disease with odontological manifestation +MONDO:0009177 late-onset localized junctional epidermolysis bullosa-intellectual disability syndrome MONDO:0035862 Orphanet:231556 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome +MONDO:0009181 epidermolysis bullosa simplex 5B, with muscular dystrophy MONDO:0015331 Orphanet:257 Orphanet:139027 obsolete malformation syndrome with skin/mucosae involvement +MONDO:0009181 epidermolysis bullosa simplex 5B, with muscular dystrophy MONDO:0035685 Orphanet:257 Orphanet:595351 obsolete epidermolysis bullosa simplex with extracutaneous involvement +MONDO:0009182 junctional epidermolysis bullosa Herlitz type MONDO:0020014 Orphanet:79404 Orphanet:98027 obsolete rare disease with odontological manifestation +MONDO:0009183 junctional epidermolysis bullosa with pyloric atresia MONDO:0020014 Orphanet:79403 Orphanet:98027 obsolete rare disease with odontological manifestation +MONDO:0009185 amelocerebrohypohidrotic syndrome MONDO:0015336 Orphanet:1946 Orphanet:139042 obsolete malformation syndrome with odontal and/or periodontal component +MONDO:0009185 amelocerebrohypohidrotic syndrome MONDO:0026190 Orphanet:1946 Orphanet:183580 obsolete genetic malformation syndrome with odontal and/or periodontal component +MONDO:0009185 amelocerebrohypohidrotic syndrome MONDO:0035862 Orphanet:1946 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome +MONDO:0009185 amelocerebrohypohidrotic syndrome MONDO:8000032 Orphanet:1946 Orphanet:377789 obsolete malformation syndrome +MONDO:0009187 celiac disease-epilepsy-cerebral calcification syndrome MONDO:0015657 Orphanet:1459 Orphanet:166484 obsolete inflammatory and autoimmune disease with epilepsy +MONDO:0009188 epilepsy-telangiectasia syndrome MONDO:0035863 Orphanet:1951 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0009189 multiple epiphyseal dysplasia type 4 MONDO:0019688 Orphanet:93307 Orphanet:93423 obsolete sulfation-related bone disorder +MONDO:0009191 Lowry-Wood syndrome MONDO:0019692 Orphanet:1824 Orphanet:93429 obsolete multiple epiphyseal dysplasia and pseudoachondroplasia +MONDO:0009192 Wolcott-Rallison syndrome MONDO:0015888 Orphanet:1667 Orphanet:181381 obsolete other rare diabetes mellitus +MONDO:0009192 Wolcott-Rallison syndrome MONDO:0035863 Orphanet:1667 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0009194 immunodeficiency 32B MONDO:0015576 Orphanet:2566 Orphanet:163585 obsolete rare viral disease +MONDO:0009196 ermine phenotype MONDO:0019589 Orphanet:999 Orphanet:90642 obsolete syndromic genetic hearing loss +MONDO:0009196 ermine phenotype MONDO:8000032 Orphanet:999 Orphanet:377789 obsolete malformation syndrome +MONDO:0009198 congenital lethal erythroderma MONDO:0019299 Orphanet:1954 Orphanet:79385 obsolete unclassified genetic skin disorder +MONDO:0009200 eyebrow duplication-syndactyly syndrome MONDO:0017434 Orphanet:3172 Orphanet:294959 obsolete syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy +MONDO:0009200 eyebrow duplication-syndactyly syndrome MONDO:8000032 Orphanet:3172 Orphanet:377789 obsolete malformation syndrome +MONDO:0009202 Thakker-Donnai syndrome MONDO:0018731 Orphanet:1780 Orphanet:459787 obsolete lethal multiple congenital anomalies/dysmorphic syndrome +MONDO:0009202 Thakker-Donnai syndrome MONDO:8000032 Orphanet:1780 Orphanet:377789 obsolete malformation syndrome +MONDO:0009203 focal facial dermal dysplasia type III MONDO:8000031 Orphanet:1807 Orphanet:557494 obsolete subtype of a disorder +MONDO:0009204 lethal faciocardiomelic dysplasia MONDO:0017432 Orphanet:1972 Orphanet:294955 obsolete syndrome with limb reduction defects +MONDO:0009204 lethal faciocardiomelic dysplasia MONDO:0018731 Orphanet:1972 Orphanet:459787 obsolete lethal multiple congenital anomalies/dysmorphic syndrome +MONDO:0009204 lethal faciocardiomelic dysplasia MONDO:8000032 Orphanet:1972 Orphanet:377789 obsolete malformation syndrome +MONDO:0009205 faciocardiorenal syndrome MONDO:0019721 Orphanet:1973 Orphanet:93547 obsolete syndromic renal or urinary tract malformation +MONDO:0009205 faciocardiorenal syndrome MONDO:0035863 Orphanet:1973 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0009205 faciocardiorenal syndrome MONDO:8000032 Orphanet:1973 Orphanet:377789 obsolete malformation syndrome +MONDO:0009209 autosomal recessive faciodigitogenital syndrome MONDO:0015329 Orphanet:1974 Orphanet:139021 obsolete malformation syndrome with short stature +MONDO:0009209 autosomal recessive faciodigitogenital syndrome MONDO:0015620 Orphanet:1974 Orphanet:165707 obsolete syndromic urogenital tract malformation +MONDO:0009209 autosomal recessive faciodigitogenital syndrome MONDO:0026187 Orphanet:1974 Orphanet:183570 obsolete genetic malformation syndrome with short stature +MONDO:0009209 autosomal recessive faciodigitogenital syndrome MONDO:0043008 Orphanet:1974 Orphanet:330206 obsolete genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability +MONDO:0009209 autosomal recessive faciodigitogenital syndrome MONDO:8000032 Orphanet:1974 Orphanet:377789 obsolete malformation syndrome +MONDO:0009210 congenital factor V deficiency MONDO:0019039 Orphanet:326 Orphanet:68334 obsolete rare hemorrhagic disorder due to a constitutional coagulation factors defect +MONDO:0009216 glycogen storage disease due to GLUT2 deficiency MONDO:0015115 Orphanet:2088 Orphanet:101940 obsolete rare genetic metabolic liver disease +MONDO:0009216 glycogen storage disease due to GLUT2 deficiency MONDO:0019743 Orphanet:2088 Orphanet:93593 obsolete nephropathy secondary to a storage or other metabolic disease +MONDO:0009218 Farber lipogranulomatosis MONDO:0015949 Orphanet:333 Orphanet:183484 obsolete rare genetic subcutaneous tissue disorder +MONDO:0009218 Farber lipogranulomatosis MONDO:0018299 Orphanet:333 Orphanet:371442 obsolete sphingolipidosis with epilepsy +MONDO:0009218 Farber lipogranulomatosis MONDO:0019058 Orphanet:333 Orphanet:68385 obsolete neurometabolic disease +MONDO:0009218 Farber lipogranulomatosis MONDO:0034953 Orphanet:333 Orphanet:519325 obsolete syndromic inherited retinal disorder +MONDO:0009218 Farber lipogranulomatosis MONDO:0035862 Orphanet:333 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome +MONDO:0009221 femur-fibula-ulna complex MONDO:0017433 Orphanet:2019 Orphanet:294957 obsolete dysostosis with combined reduction defects of upper and lower limbs +MONDO:0009221 femur-fibula-ulna complex MONDO:8000032 Orphanet:2019 Orphanet:377789 obsolete malformation syndrome +MONDO:0009222 Gollop-Wolfgang complex MONDO:0017432 Orphanet:1986 Orphanet:294955 obsolete syndrome with limb reduction defects +MONDO:0009222 Gollop-Wolfgang complex MONDO:0017433 Orphanet:1986 Orphanet:294957 obsolete dysostosis with combined reduction defects of upper and lower limbs +MONDO:0009222 Gollop-Wolfgang complex MONDO:0017434 Orphanet:1986 Orphanet:294959 obsolete syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy +MONDO:0009222 Gollop-Wolfgang complex MONDO:0800090 Orphanet:1986 Orphanet:498477 obsolete ectrodactyly with and without other manifestations +MONDO:0009222 Gollop-Wolfgang complex MONDO:8000032 Orphanet:1986 Orphanet:377789 obsolete malformation syndrome +MONDO:0009223 hypogonadotropic hypogonadism 23 with or without anosmia MONDO:8000031 Orphanet:325448 Orphanet:557494 obsolete subtype of a disorder +MONDO:0009224 fetal iodine syndrome MONDO:0015323 Orphanet:1910 Orphanet:138059 obsolete teratogenic Pierre Robin syndrome +MONDO:0009224 fetal iodine syndrome MONDO:8000032 Orphanet:1910 Orphanet:377789 obsolete malformation syndrome +MONDO:0009228 gingival fibromatosis-facial dysmorphism syndrome MONDO:0015336 Orphanet:2025 Orphanet:139042 obsolete malformation syndrome with odontal and/or periodontal component +MONDO:0009228 gingival fibromatosis-facial dysmorphism syndrome MONDO:0026190 Orphanet:2025 Orphanet:183580 obsolete genetic malformation syndrome with odontal and/or periodontal component +MONDO:0009228 gingival fibromatosis-facial dysmorphism syndrome MONDO:0043008 Orphanet:2025 Orphanet:330206 obsolete genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability +MONDO:0009228 gingival fibromatosis-facial dysmorphism syndrome MONDO:8000032 Orphanet:2025 Orphanet:377789 obsolete malformation syndrome +MONDO:0009229 hyaline fibromatosis syndrome MONDO:0800092 Orphanet:498474 Orphanet:498445 obsolete hereditary inflammatory or rheumatoid-like osteoarthropathy +MONDO:0009231 acromesomelic dysplasia 2B MONDO:0017432 Orphanet:2639 Orphanet:294955 obsolete syndrome with limb reduction defects +MONDO:0009231 acromesomelic dysplasia 2B MONDO:8000032 Orphanet:2639 Orphanet:377789 obsolete malformation syndrome +MONDO:0009232 Fuhrmann syndrome MONDO:0015335 Orphanet:2854 Orphanet:139039 obsolete Mendelian syndromes with cleft lip/palate +MONDO:0009232 Fuhrmann syndrome MONDO:0017432 Orphanet:2854 Orphanet:294955 obsolete syndrome with limb reduction defects +MONDO:0009232 Fuhrmann syndrome MONDO:0017434 Orphanet:2854 Orphanet:294959 obsolete syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy +MONDO:0009232 Fuhrmann syndrome MONDO:8000032 Orphanet:2854 Orphanet:377789 obsolete malformation syndrome +MONDO:0009233 Fibulo-ulnar hypoplasia-renal anomalies syndrome MONDO:0019721 Orphanet:2256 Orphanet:93547 obsolete syndromic renal or urinary tract malformation +MONDO:0009233 Fibulo-ulnar hypoplasia-renal anomalies syndrome MONDO:0043008 Orphanet:2256 Orphanet:330206 obsolete genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability +MONDO:0009233 Fibulo-ulnar hypoplasia-renal anomalies syndrome MONDO:8000032 Orphanet:2256 Orphanet:377789 obsolete malformation syndrome +MONDO:0009234 congenital high-molecular-weight kininogen deficiency MONDO:0019039 Orphanet:483 Orphanet:68334 obsolete rare hemorrhagic disorder due to a constitutional coagulation factors defect +MONDO:0009236 Kandori fleck retina MONDO:8000032 Orphanet:99179 Orphanet:377789 obsolete malformation syndrome +MONDO:0009238 hereditary folate malabsorption MONDO:0015179 Orphanet:90045 Orphanet:104004 obsolete intestinal disease due to vitamin absorption anomaly +MONDO:0009238 hereditary folate malabsorption MONDO:0018035 Orphanet:90045 Orphanet:331217 obsolete syndrome with combined immunodeficiency +MONDO:0009238 hereditary folate malabsorption MONDO:0020111 Orphanet:90045 Orphanet:98408 obsolete constitutional megaloblastic anemia due to folate metabolism disorder +MONDO:0009238 hereditary folate malabsorption MONDO:0035862 Orphanet:90045 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome +MONDO:0009239 hypogonadotropic hypogonadism 24 without anosmia MONDO:0018411 Orphanet:52901 Orphanet:400011 obsolete rare female infertility due to hypothalamic-pituitary-gonadal axis disorder of genetic origin +MONDO:0009240 formiminoglutamic aciduria MONDO:0020111 Orphanet:51208 Orphanet:98408 obsolete constitutional megaloblastic anemia due to folate metabolism disorder +MONDO:0009241 fountain syndrome MONDO:0019589 Orphanet:3219 Orphanet:90642 obsolete syndromic genetic hearing loss +MONDO:0009241 fountain syndrome MONDO:0035863 Orphanet:3219 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0009241 fountain syndrome MONDO:8000032 Orphanet:3219 Orphanet:377789 obsolete malformation syndrome +MONDO:0009242 brittle cornea syndrome MONDO:0020215 Orphanet:90354 Orphanet:98628 obsolete syndromic corneal dystrophy +MONDO:0009247 frontofacionasal dysplasia MONDO:0015334 Orphanet:1791 Orphanet:139036 obsolete branchial arch or oral-acral syndrome +MONDO:0009247 frontofacionasal dysplasia MONDO:0015412 Orphanet:1791 Orphanet:141234 obsolete median facial cleft +MONDO:0009247 frontofacionasal dysplasia MONDO:0020156 Orphanet:1791 Orphanet:98565 obsolete syndromic ankyloblepharon +MONDO:0009247 frontofacionasal dysplasia MONDO:0020157 Orphanet:1791 Orphanet:98566 obsolete syndromic palpebral coloboma +MONDO:0009247 frontofacionasal dysplasia MONDO:0026189 Orphanet:1791 Orphanet:183576 obsolete genetic branchial arch or oral-acral syndrome +MONDO:0009247 frontofacionasal dysplasia MONDO:0043008 Orphanet:1791 Orphanet:330206 obsolete genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability +MONDO:0009247 frontofacionasal dysplasia MONDO:8000032 Orphanet:1791 Orphanet:377789 obsolete malformation syndrome +MONDO:0009249 hereditary fructose intolerance MONDO:0015115 Orphanet:469 Orphanet:101940 obsolete rare genetic metabolic liver disease +MONDO:0009249 hereditary fructose intolerance MONDO:0015178 Orphanet:469 Orphanet:104003 obsolete congenital intestinal transport defect +MONDO:0009249 hereditary fructose intolerance MONDO:0019743 Orphanet:469 Orphanet:93593 obsolete nephropathy secondary to a storage or other metabolic disease +MONDO:0009253 Fryns syndrome MONDO:0015216 Orphanet:2059 Orphanet:108979 obsolete syndromic diaphragmatic or abdominal wall malformation +MONDO:0009253 Fryns syndrome MONDO:0035863 Orphanet:2059 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0009253 Fryns syndrome MONDO:8000032 Orphanet:2059 Orphanet:377789 obsolete malformation syndrome +MONDO:0009254 fucosidosis MONDO:0016326 Orphanet:349 Orphanet:217581 obsolete lysosomal disease with hypertrophic cardiomyopathy +MONDO:0009254 fucosidosis MONDO:0035862 Orphanet:349 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome +MONDO:0009257 galactose epimerase deficiency MONDO:0015115 Orphanet:79238 Orphanet:101940 obsolete rare genetic metabolic liver disease +MONDO:0009258 classic galactosemia MONDO:0015115 Orphanet:79239 Orphanet:101940 obsolete rare genetic metabolic liver disease +MONDO:0009258 classic galactosemia MONDO:0018401 Orphanet:79239 Orphanet:399853 obsolete female infertility due to an anomaly of ovarian function +MONDO:0009258 classic galactosemia MONDO:0018413 Orphanet:79239 Orphanet:400022 obsolete female infertility due to an anomaly of ovarian function of genetic origin +MONDO:0009258 classic galactosemia MONDO:0034443 Orphanet:79239 Orphanet:485382 obsolete genetic non-acquired premature ovarian failure +MONDO:0009258 classic galactosemia MONDO:0035862 Orphanet:79239 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome +MONDO:0009259 gamma-glutamylcysteine synthetase deficiency MONDO:0020105 Orphanet:33574 Orphanet:98370 obsolete hemolytic anemia due to hexose monophosphate shunt and glutathione metabolism anomalies +MONDO:0009260 GM1 gangliosidosis type 1 MONDO:0034953 Orphanet:79255 Orphanet:519325 obsolete syndromic inherited retinal disorder +MONDO:0009260 GM1 gangliosidosis type 1 MONDO:0034961 Orphanet:79255 Orphanet:519341 obsolete rare brainstem or cerebellar disorder with ophthalmic involvement as a major feature +MONDO:0009260 GM1 gangliosidosis type 1 MONDO:8000031 Orphanet:79255 Orphanet:557494 obsolete subtype of a disorder +MONDO:0009261 GM1 gangliosidosis type 2 MONDO:0034961 Orphanet:79256 Orphanet:519341 obsolete rare brainstem or cerebellar disorder with ophthalmic involvement as a major feature +MONDO:0009261 GM1 gangliosidosis type 2 MONDO:8000031 Orphanet:79256 Orphanet:557494 obsolete subtype of a disorder +MONDO:0009262 GM1 gangliosidosis type 3 MONDO:8000031 Orphanet:79257 Orphanet:557494 obsolete subtype of a disorder +MONDO:0009263 GAPO syndrome MONDO:0015336 Orphanet:2067 Orphanet:139042 obsolete malformation syndrome with odontal and/or periodontal component +MONDO:0009263 GAPO syndrome MONDO:0018609 Orphanet:2067 Orphanet:441434 obsolete syndromic hereditary optic neuropathy +MONDO:0009263 GAPO syndrome MONDO:0020211 Orphanet:2067 Orphanet:98623 obsolete syndromic keratoconus +MONDO:0009263 GAPO syndrome MONDO:0026190 Orphanet:2067 Orphanet:183580 obsolete genetic malformation syndrome with odontal and/or periodontal component +MONDO:0009263 GAPO syndrome MONDO:0035863 Orphanet:2067 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0009263 GAPO syndrome MONDO:8000032 Orphanet:2067 Orphanet:377789 obsolete malformation syndrome +MONDO:0009264 gastroschisis MONDO:0015215 Orphanet:2368 Orphanet:108977 obsolete non-syndromic diaphragmatic or abdominal wall malformation +MONDO:0009264 gastroschisis MONDO:0018241 Orphanet:2368 Orphanet:365563 obsolete primary short bowel syndrome +MONDO:0009264 gastroschisis MONDO:8000030 Orphanet:2368 Orphanet:377791 obsolete morphological anomaly +MONDO:0009265 Gaucher disease type I MONDO:0016341 Orphanet:77259 Orphanet:217638 obsolete lysosomal disease with restrictive cardiomyopathy +MONDO:0009265 Gaucher disease type I MONDO:0017037 Orphanet:77259 Orphanet:264968 obsolete secondary interstitial lung disease in childhood and adulthood associated with a metabolic disease +MONDO:0009265 Gaucher disease type I MONDO:0018377 Orphanet:77259 Orphanet:399185 obsolete rare hereditary disease with avascular necrosis +MONDO:0009265 Gaucher disease type I MONDO:0034953 Orphanet:77259 Orphanet:519325 obsolete syndromic inherited retinal disorder +MONDO:0009265 Gaucher disease type I MONDO:8000031 Orphanet:77259 Orphanet:557494 obsolete subtype of a disorder +MONDO:0009266 Gaucher disease type II MONDO:0017024 Orphanet:77260 Orphanet:264719 obsolete secondary interstitial lung disease specific to childhood associated with a metabolic disease +MONDO:0009266 Gaucher disease type II MONDO:0018299 Orphanet:77260 Orphanet:371442 obsolete sphingolipidosis with epilepsy +MONDO:0009266 Gaucher disease type II MONDO:0019058 Orphanet:77260 Orphanet:68385 obsolete neurometabolic disease +MONDO:0009266 Gaucher disease type II MONDO:0020253 Orphanet:77260 Orphanet:98683 obsolete syndrome with a symptomatic strabismus +MONDO:0009266 Gaucher disease type II MONDO:8000031 Orphanet:77260 Orphanet:557494 obsolete subtype of a disorder +MONDO:0009267 Gaucher disease type III MONDO:0017024 Orphanet:77261 Orphanet:264719 obsolete secondary interstitial lung disease specific to childhood associated with a metabolic disease +MONDO:0009267 Gaucher disease type III MONDO:0018299 Orphanet:77261 Orphanet:371442 obsolete sphingolipidosis with epilepsy +MONDO:0009267 Gaucher disease type III MONDO:0018377 Orphanet:77261 Orphanet:399185 obsolete rare hereditary disease with avascular necrosis +MONDO:0009267 Gaucher disease type III MONDO:0019058 Orphanet:77261 Orphanet:68385 obsolete neurometabolic disease +MONDO:0009267 Gaucher disease type III MONDO:0020258 Orphanet:77261 Orphanet:98688 obsolete oculomotor apraxia or related oculomotor disease +MONDO:0009267 Gaucher disease type III MONDO:0034961 Orphanet:77261 Orphanet:519341 obsolete rare brainstem or cerebellar disorder with ophthalmic involvement as a major feature +MONDO:0009267 Gaucher disease type III MONDO:8000031 Orphanet:77261 Orphanet:557494 obsolete subtype of a disorder +MONDO:0009268 Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome MONDO:0020258 Orphanet:2072 Orphanet:98688 obsolete oculomotor apraxia or related oculomotor disease +MONDO:0009268 Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome MONDO:8000031 Orphanet:2072 Orphanet:557494 obsolete subtype of a disorder +MONDO:0009270 genito-palato-cardiac syndrome MONDO:0015335 Orphanet:2075 Orphanet:139039 obsolete Mendelian syndromes with cleft lip/palate +MONDO:0009270 genito-palato-cardiac syndrome MONDO:0020042 Orphanet:2075 Orphanet:98087 obsolete syndrome with 46,XY disorder of sex development +MONDO:0009270 genito-palato-cardiac syndrome MONDO:0043008 Orphanet:2075 Orphanet:330206 obsolete genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability +MONDO:0009270 genito-palato-cardiac syndrome MONDO:8000032 Orphanet:2075 Orphanet:377789 obsolete malformation syndrome +MONDO:0009271 geroderma osteodysplastica MONDO:0019704 Orphanet:2078 Orphanet:93446 obsolete primary bone dysplasia with decreased bone density +MONDO:0009271 geroderma osteodysplastica MONDO:8000032 Orphanet:2078 Orphanet:377789 obsolete malformation syndrome +MONDO:0009272 German syndrome MONDO:0018731 Orphanet:2077 Orphanet:459787 obsolete lethal multiple congenital anomalies/dysmorphic syndrome +MONDO:0009272 German syndrome MONDO:8000032 Orphanet:2077 Orphanet:377789 obsolete malformation syndrome +MONDO:0009274 ghosal hematodiaphyseal dysplasia MONDO:0800084 Orphanet:1802 Orphanet:93444 obsolete primary bone dysplasia with increased bone density +MONDO:0009274 ghosal hematodiaphyseal dysplasia MONDO:8000032 Orphanet:1802 Orphanet:377789 obsolete malformation syndrome +MONDO:0009275 neonatal hemochromatosis MONDO:0015115 Orphanet:446 Orphanet:101940 obsolete rare genetic metabolic liver disease +MONDO:0009276 Bernard-Soulier syndrome MONDO:0016361 Orphanet:274 Orphanet:220452 obsolete isolated hereditary giant platelet disorder +MONDO:0009277 glaucoma 3A MONDO:0015485 Orphanet:98976 Orphanet:156005 obsolete primary hereditary glaucoma +MONDO:0009279 triple-A syndrome MONDO:0015208 Orphanet:869 Orphanet:108961 obsolete syndromic esophageal malformation +MONDO:0009279 triple-A syndrome MONDO:0016132 Orphanet:869 Orphanet:207015 obsolete rare hereditary disease with peripheral neuropathy +MONDO:0009279 triple-A syndrome MONDO:0020194 Orphanet:869 Orphanet:98604 obsolete congenital alacrima +MONDO:0009279 triple-A syndrome MONDO:0020999 Orphanet:869 Orphanet:101960 obsolete genetic chronic primary adrenal insufficiency +MONDO:0009279 triple-A syndrome MONDO:0031952 Orphanet:869 Orphanet:371445 obsolete genetic syndromic esophageal malformation +MONDO:0009279 triple-A syndrome MONDO:0035862 Orphanet:869 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome +MONDO:0009281 glutaryl-CoA dehydrogenase deficiency MONDO:0019058 Orphanet:25 Orphanet:68385 obsolete neurometabolic disease +MONDO:0009281 glutaryl-CoA dehydrogenase deficiency MONDO:0019213 Orphanet:25 Orphanet:79158 obsolete cerebral organic aciduria +MONDO:0009282 multiple acyl-CoA dehydrogenase deficiency MONDO:0016117 Orphanet:26791 Orphanet:206953 obsolete muscular lipidosis +MONDO:0009282 multiple acyl-CoA dehydrogenase deficiency MONDO:0016328 Orphanet:26791 Orphanet:217591 obsolete fatty acid oxidation and ketogenesis disorder with hypertrophic cardiomyopathy +MONDO:0009283 glutaric acidemia type 3 MONDO:0016401 Orphanet:35706 Orphanet:225696 obsolete energy metabolism disorder with epilepsy +MONDO:0009283 glutaric acidemia type 3 MONDO:0017753 Orphanet:35706 Orphanet:309810 obsolete disorder of peroxisomal alpha-, beta- and omega-oxidation +MONDO:0009284 glutathione synthetase deficiency without 5-oxoprolinuria MONDO:8000031 Orphanet:289849 Orphanet:557494 obsolete subtype of a disorder +MONDO:0009287 glycogen storage disease due to glucose-6-phosphatase deficiency type IA MONDO:8000031 Orphanet:79258 Orphanet:557494 obsolete subtype of a disorder +MONDO:0009288 glycogen storage disease Ib MONDO:0018032 Orphanet:79259 Orphanet:331184 obsolete constitutional neutropenia with extra-hematopoietic manifestations +MONDO:0009288 glycogen storage disease Ib MONDO:8000031 Orphanet:79259 Orphanet:557494 obsolete subtype of a disorder +MONDO:0009290 glycogen storage disease II MONDO:0016118 Orphanet:365 Orphanet:206959 obsolete muscular glycogenosis +MONDO:0009290 glycogen storage disease II MONDO:0016325 Orphanet:365 Orphanet:217572 obsolete glycogen storage disease with hypertrophic cardiomyopathy +MONDO:0009290 glycogen storage disease II MONDO:0016326 Orphanet:365 Orphanet:217581 obsolete lysosomal disease with hypertrophic cardiomyopathy +MONDO:0009290 glycogen storage disease II MONDO:0016341 Orphanet:365 Orphanet:217638 obsolete lysosomal disease with restrictive cardiomyopathy +MONDO:0009291 glycogen storage disease III MONDO:0015115 Orphanet:366 Orphanet:101940 obsolete rare genetic metabolic liver disease +MONDO:0009291 glycogen storage disease III MONDO:0016118 Orphanet:366 Orphanet:206959 obsolete muscular glycogenosis +MONDO:0009291 glycogen storage disease III MONDO:0016325 Orphanet:366 Orphanet:217572 obsolete glycogen storage disease with hypertrophic cardiomyopathy +MONDO:0009292 glycogen storage disease due to glycogen branching enzyme deficiency MONDO:0015115 Orphanet:367 Orphanet:101940 obsolete rare genetic metabolic liver disease +MONDO:0009292 glycogen storage disease due to glycogen branching enzyme deficiency MONDO:0016118 Orphanet:367 Orphanet:206959 obsolete muscular glycogenosis +MONDO:0009293 glycogen storage disease V MONDO:0016118 Orphanet:368 Orphanet:206959 obsolete muscular glycogenosis +MONDO:0009294 glycogen storage disease VI MONDO:0015115 Orphanet:369 Orphanet:101940 obsolete rare genetic metabolic liver disease +MONDO:0009295 glycogen storage disease VII MONDO:0016118 Orphanet:371 Orphanet:206959 obsolete muscular glycogenosis +MONDO:0009295 glycogen storage disease VII MONDO:0020106 Orphanet:371 Orphanet:98372 obsolete hemolytic anemia due to a disorder of glycolytic enzymes +MONDO:0009297 familial renal glucosuria MONDO:0019743 Orphanet:69076 Orphanet:93593 obsolete nephropathy secondary to a storage or other metabolic disease +MONDO:0009299 46 XX gonadal dysgenesis MONDO:0017961 Orphanet:243 Orphanet:325055 obsolete 46,XX disorder of gonadal development +MONDO:0009299 46 XX gonadal dysgenesis MONDO:0018402 Orphanet:243 Orphanet:399877 obsolete female infertility due to gonadal dysgenesis +MONDO:0009299 46 XX gonadal dysgenesis MONDO:0020038 Orphanet:243 Orphanet:98074 obsolete gonadal dysgenesis of gynecological interest +MONDO:0009299 46 XX gonadal dysgenesis MONDO:0034443 Orphanet:243 Orphanet:485382 obsolete genetic non-acquired premature ovarian failure +MONDO:0009299 46 XX gonadal dysgenesis MONDO:8000032 Orphanet:243 Orphanet:377789 obsolete malformation syndrome +MONDO:0009300 Perrault syndrome 1 MONDO:8000031 Orphanet:642945 Orphanet:557494 obsolete subtype of a disorder +MONDO:0009302 XY type gonadal dysgenesis-associated anomalies syndrome MONDO:0017978 Orphanet:1770 Orphanet:325638 obsolete syndrome with disorder of sex development of gynecological interest +MONDO:0009302 XY type gonadal dysgenesis-associated anomalies syndrome MONDO:0020042 Orphanet:1770 Orphanet:98087 obsolete syndrome with 46,XY disorder of sex development +MONDO:0009302 XY type gonadal dysgenesis-associated anomalies syndrome MONDO:8000032 Orphanet:1770 Orphanet:377789 obsolete malformation syndrome +MONDO:0009303 anti-glomerular basement membrane disease MONDO:0015490 Orphanet:375 Orphanet:156146 obsolete predominantly small-vessel vasculitis +MONDO:0009303 anti-glomerular basement membrane disease MONDO:0017035 Orphanet:375 Orphanet:264949 obsolete secondary interstitial lung disease in childhood and adulthood associated with a systemic disease +MONDO:0009306 combined immunodeficiency with skin granulomas MONDO:0019305 Orphanet:157949 Orphanet:79391 obsolete immune deficiency with skin involvement +MONDO:0009306 combined immunodeficiency with skin granulomas MONDO:0026166 Orphanet:157949 Orphanet:183494 obsolete genetic immune deficiency with skin involvement +MONDO:0009313 Grubben-de Cock-Borghgraef syndrome MONDO:0035863 Orphanet:2101 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0009313 Grubben-de Cock-Borghgraef syndrome MONDO:8000032 Orphanet:2101 Orphanet:377789 obsolete malformation syndrome +MONDO:0009315 congenital factor XII deficiency MONDO:0016633 Orphanet:330 Orphanet:248361 obsolete thrombotic disorder due to a constitutional coagulation factors defect +MONDO:0009318 Hallermann-Streiff syndrome MONDO:0015329 Orphanet:2108 Orphanet:139021 obsolete malformation syndrome with short stature +MONDO:0009318 Hallermann-Streiff syndrome MONDO:0019699 Orphanet:2108 Orphanet:93440 obsolete slender bone dysplasia +MONDO:0009318 Hallermann-Streiff syndrome MONDO:0020234 Orphanet:2108 Orphanet:98650 obsolete craniofacial anomaly with cataract +MONDO:0009318 Hallermann-Streiff syndrome MONDO:0026187 Orphanet:2108 Orphanet:183570 obsolete genetic malformation syndrome with short stature +MONDO:0009318 Hallermann-Streiff syndrome MONDO:0035863 Orphanet:2108 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0009318 Hallermann-Streiff syndrome MONDO:8000032 Orphanet:2108 Orphanet:377789 obsolete malformation syndrome +MONDO:0009319 pantothenate kinase-associated neurodegeneration MONDO:0017760 Orphanet:157850 Orphanet:309833 obsolete disorder of other vitamins and cofactors metabolism and transport +MONDO:0009319 pantothenate kinase-associated neurodegeneration MONDO:0018118 Orphanet:157850 Orphanet:352306 obsolete disorder of phospholipids, sphingolipids and fatty acids biosynthesis with central nervous system predominant involvement +MONDO:0009319 pantothenate kinase-associated neurodegeneration MONDO:0034953 Orphanet:157850 Orphanet:519325 obsolete syndromic inherited retinal disorder +MONDO:0009320 Hall-Riggs syndrome MONDO:0035863 Orphanet:2107 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0009320 Hall-Riggs syndrome MONDO:8000032 Orphanet:2107 Orphanet:377789 obsolete malformation syndrome +MONDO:0009321 hallux varus-preaxial polysyndactyly syndrome MONDO:0017434 Orphanet:2110 Orphanet:294959 obsolete syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy +MONDO:0009321 hallux varus-preaxial polysyndactyly syndrome MONDO:8000032 Orphanet:2110 Orphanet:377789 obsolete malformation syndrome +MONDO:0009324 Hartnup disease MONDO:0019058 Orphanet:2116 Orphanet:68385 obsolete neurometabolic disease +MONDO:0009324 Hartnup disease MONDO:0019304 Orphanet:2116 Orphanet:79390 obsolete rare photodermatosis +MONDO:0009324 Hartnup disease MONDO:0019743 Orphanet:2116 Orphanet:93593 obsolete nephropathy secondary to a storage or other metabolic disease +MONDO:0009324 Hartnup disease MONDO:0035862 Orphanet:2116 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome +MONDO:0009326 congenital heart block MONDO:0015110 Orphanet:60041 Orphanet:101934 obsolete genetic cardiac rhythm disease +MONDO:0009331 isolated hemihyperplasia MONDO:0015945 Orphanet:2128 Orphanet:183422 obsolete polymalformative genetic syndrome with increased risk of developing cancer +MONDO:0009331 isolated hemihyperplasia MONDO:8000030 Orphanet:2128 Orphanet:377791 obsolete morphological anomaly +MONDO:0009333 mullerian derivatives-lymphangiectasia-polydactyly syndrome MONDO:0015620 Orphanet:1655 Orphanet:165707 obsolete syndromic urogenital tract malformation +MONDO:0009333 mullerian derivatives-lymphangiectasia-polydactyly syndrome MONDO:0035471 Orphanet:1655 Orphanet:568047 obsolete disorder with multisystemic involvement and primary lymphedema +MONDO:0009333 mullerian derivatives-lymphangiectasia-polydactyly syndrome MONDO:0043008 Orphanet:1655 Orphanet:330206 obsolete genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability +MONDO:0009333 mullerian derivatives-lymphangiectasia-polydactyly syndrome MONDO:8000032 Orphanet:1655 Orphanet:377789 obsolete malformation syndrome +MONDO:0009338 hepatic veno-occlusive disease-immunodeficiency syndrome MONDO:0015113 Orphanet:79124 Orphanet:101938 obsolete rare vascular liver disease +MONDO:0009338 hepatic veno-occlusive disease-immunodeficiency syndrome MONDO:0015507 Orphanet:79124 Orphanet:156601 obsolete rare genetic hepatic disease +MONDO:0009338 hepatic veno-occlusive disease-immunodeficiency syndrome MONDO:0018035 Orphanet:79124 Orphanet:331217 obsolete syndrome with combined immunodeficiency +MONDO:0009340 non-spherocytic hemolytic anemia due to hexokinase deficiency MONDO:0020106 Orphanet:90031 Orphanet:98372 obsolete hemolytic anemia due to a disorder of glycolytic enzymes +MONDO:0009341 Mowat-Wilson syndrome MONDO:0035340 Orphanet:2152 Orphanet:557866 obsolete rare disorder with hirschsprung disease as a major feature +MONDO:0009341 Mowat-Wilson syndrome MONDO:0035863 Orphanet:2152 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0009341 Mowat-Wilson syndrome MONDO:8000032 Orphanet:2152 Orphanet:377789 obsolete malformation syndrome +MONDO:0009342 Hirschsprung disease-hearing loss-polydactyly syndrome MONDO:0015184 Orphanet:2155 Orphanet:104009 obsolete rare disease involving intestinal motility +MONDO:0009342 Hirschsprung disease-hearing loss-polydactyly syndrome MONDO:0019589 Orphanet:2155 Orphanet:90642 obsolete syndromic genetic hearing loss +MONDO:0009342 Hirschsprung disease-hearing loss-polydactyly syndrome MONDO:0035340 Orphanet:2155 Orphanet:557866 obsolete rare disorder with hirschsprung disease as a major feature +MONDO:0009342 Hirschsprung disease-hearing loss-polydactyly syndrome MONDO:0043008 Orphanet:2155 Orphanet:330206 obsolete genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability +MONDO:0009342 Hirschsprung disease-hearing loss-polydactyly syndrome MONDO:8000032 Orphanet:2155 Orphanet:377789 obsolete malformation syndrome +MONDO:0009344 Hirschsprung disease-nail hypoplasia-dysmorphism syndrome MONDO:0015184 Orphanet:2153 Orphanet:104009 obsolete rare disease involving intestinal motility +MONDO:0009344 Hirschsprung disease-nail hypoplasia-dysmorphism syndrome MONDO:0019285 Orphanet:2153 Orphanet:79370 obsolete syndromic nail anomaly +MONDO:0009344 Hirschsprung disease-nail hypoplasia-dysmorphism syndrome MONDO:0035340 Orphanet:2153 Orphanet:557866 obsolete rare disorder with hirschsprung disease as a major feature +MONDO:0009344 Hirschsprung disease-nail hypoplasia-dysmorphism syndrome MONDO:8000032 Orphanet:2153 Orphanet:377789 obsolete malformation syndrome +MONDO:0009349 holoprosencephaly 1 MONDO:0016054 Orphanet:268936 Orphanet:199633 obsolete cerebral malformation +MONDO:0009349 holoprosencephaly 1 MONDO:8000030 Orphanet:268936 Orphanet:377791 obsolete morphological anomaly +MONDO:0009350 Holzgreve-Wagner-Rehder syndrome MONDO:0015335 Orphanet:2167 Orphanet:139039 obsolete Mendelian syndromes with cleft lip/palate +MONDO:0009350 Holzgreve-Wagner-Rehder syndrome MONDO:0043008 Orphanet:2167 Orphanet:330206 obsolete genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability +MONDO:0009350 Holzgreve-Wagner-Rehder syndrome MONDO:8000032 Orphanet:2167 Orphanet:377789 obsolete malformation syndrome +MONDO:0009352 classic homocystinuria MONDO:0016399 Orphanet:394 Orphanet:225689 obsolete amino acid or protein metabolism disease with epilepsy +MONDO:0009352 classic homocystinuria MONDO:0019058 Orphanet:394 Orphanet:68385 obsolete neurometabolic disease +MONDO:0009352 classic homocystinuria MONDO:0020222 Orphanet:394 Orphanet:98638 obsolete rare disease with glaucoma as a major feature +MONDO:0009352 classic homocystinuria MONDO:0020228 Orphanet:394 Orphanet:98644 obsolete cataract associated with a metabolic disease +MONDO:0009352 classic homocystinuria MONDO:0034937 Orphanet:394 Orphanet:519292 obsolete syndromic ectopia lentis +MONDO:0009352 classic homocystinuria MONDO:0035862 Orphanet:394 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome +MONDO:0009353 homocystinuria due to methylene tetrahydrofolate reductase deficiency MONDO:0016133 Orphanet:395 Orphanet:207018 obsolete rare hereditary metabolic disease with peripheral neuropathy +MONDO:0009353 homocystinuria due to methylene tetrahydrofolate reductase deficiency MONDO:0016406 Orphanet:395 Orphanet:225713 obsolete other metabolic disease with epilepsy +MONDO:0009354 methylcobalamin deficiency type cblE MONDO:0035862 Orphanet:2169 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome +MONDO:0009354 methylcobalamin deficiency type cblE MONDO:8000031 Orphanet:2169 Orphanet:557494 obsolete subtype of a disorder +MONDO:0009359 multinucleated neurons-anhydramnios-renal dysplasia-cerebellar hypoplasia-hydranencephaly syndrome MONDO:0015620 Orphanet:500135 Orphanet:165707 obsolete syndromic urogenital tract malformation +MONDO:0009359 multinucleated neurons-anhydramnios-renal dysplasia-cerebellar hypoplasia-hydranencephaly syndrome MONDO:0017120 Orphanet:500135 Orphanet:269531 obsolete other syndrome with a central nervous system malformation as major feature +MONDO:0009359 multinucleated neurons-anhydramnios-renal dysplasia-cerebellar hypoplasia-hydranencephaly syndrome MONDO:0018731 Orphanet:500135 Orphanet:459787 obsolete lethal multiple congenital anomalies/dysmorphic syndrome +MONDO:0009359 multinucleated neurons-anhydramnios-renal dysplasia-cerebellar hypoplasia-hydranencephaly syndrome MONDO:0019721 Orphanet:500135 Orphanet:93547 obsolete syndromic renal or urinary tract malformation +MONDO:0009359 multinucleated neurons-anhydramnios-renal dysplasia-cerebellar hypoplasia-hydranencephaly syndrome MONDO:0022409 Orphanet:500135 Orphanet:156162 obsolete nephropathy-associated ciliopathy +MONDO:0009359 multinucleated neurons-anhydramnios-renal dysplasia-cerebellar hypoplasia-hydranencephaly syndrome MONDO:8000032 Orphanet:500135 Orphanet:377789 obsolete malformation syndrome +MONDO:0009362 growth delay-hydrocephaly-lung hypoplasia syndrome MONDO:0015222 Orphanet:3035 Orphanet:108995 obsolete syndromic respiratory or mediastinal malformation +MONDO:0009362 growth delay-hydrocephaly-lung hypoplasia syndrome MONDO:0015930 Orphanet:3035 Orphanet:182111 obsolete respiratory malformation +MONDO:0009362 growth delay-hydrocephaly-lung hypoplasia syndrome MONDO:0026203 Orphanet:3035 Orphanet:183622 obsolete genetic respiratory malformation +MONDO:0009362 growth delay-hydrocephaly-lung hypoplasia syndrome MONDO:8000032 Orphanet:3035 Orphanet:377789 obsolete malformation syndrome +MONDO:0009363 hydrocephaly-tall stature-joint laxity syndrome MONDO:0043008 Orphanet:2181 Orphanet:330206 obsolete genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability +MONDO:0009363 hydrocephaly-tall stature-joint laxity syndrome MONDO:8000032 Orphanet:2181 Orphanet:377789 obsolete malformation syndrome +MONDO:0009367 McKusick-Kaufman syndrome MONDO:0022407 Orphanet:2473 Orphanet:156183 obsolete retinal ciliopathy due to mutation in Bardet-Biedl gene +MONDO:0009367 McKusick-Kaufman syndrome MONDO:0022409 Orphanet:2473 Orphanet:156162 obsolete nephropathy-associated ciliopathy +MONDO:0009367 McKusick-Kaufman syndrome MONDO:0043008 Orphanet:2473 Orphanet:330206 obsolete genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability +MONDO:0009367 McKusick-Kaufman syndrome MONDO:8000032 Orphanet:2473 Orphanet:377789 obsolete malformation syndrome +MONDO:0009369 non-immune hydrops fetalis MONDO:0015960 Orphanet:363999 Orphanet:183530 obsolete rare genetic developmental defect during embryogenesis +MONDO:0009369 non-immune hydrops fetalis MONDO:8000031 Orphanet:363999 Orphanet:557494 obsolete subtype of a disorder +MONDO:0009370 L-2-hydroxyglutaric aciduria MONDO:0035862 Orphanet:79314 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome +MONDO:0009372 encephalopathy due to hydroxykynureninuria MONDO:0019058 Orphanet:79155 Orphanet:68385 obsolete neurometabolic disease +MONDO:0009373 seizures-intellectual disability due to hydroxylysinuria syndrome MONDO:0019058 Orphanet:79156 Orphanet:68385 obsolete neurometabolic disease +MONDO:0009373 seizures-intellectual disability due to hydroxylysinuria syndrome MONDO:0035863 Orphanet:79156 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0009377 hyperammonemia due to N-acetylglutamate synthase deficiency MONDO:0035862 Orphanet:927 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome +MONDO:0009378 hyper-beta-alaninemia MONDO:0016399 Orphanet:309147 Orphanet:225689 obsolete amino acid or protein metabolism disease with epilepsy +MONDO:0009379 Rotor syndrome MONDO:0015115 Orphanet:3111 Orphanet:101940 obsolete rare genetic metabolic liver disease +MONDO:0009380 Dubin-Johnson syndrome MONDO:0015115 Orphanet:234 Orphanet:101940 obsolete rare genetic metabolic liver disease +MONDO:0009383 transient familial neonatal hyperbilirubinemia MONDO:0015507 Orphanet:2312 Orphanet:156601 obsolete rare genetic hepatic disease +MONDO:0009383 transient familial neonatal hyperbilirubinemia MONDO:0018928 Orphanet:2312 Orphanet:57146 obsolete rare hepatic disease +MONDO:0009387 familial lipoprotein lipase deficiency MONDO:8000031 Orphanet:309015 Orphanet:557494 obsolete subtype of a disorder +MONDO:0009393 ornithine translocase deficiency MONDO:0035862 Orphanet:415 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome +MONDO:0009394 juvenile Paget disease MONDO:0800084 Orphanet:2801 Orphanet:93444 obsolete primary bone dysplasia with increased bone density +MONDO:0009394 juvenile Paget disease MONDO:8000032 Orphanet:2801 Orphanet:377789 obsolete malformation syndrome +MONDO:0009395 hyperostosis corticalis generalisata MONDO:0800084 Orphanet:3416 Orphanet:93444 obsolete primary bone dysplasia with increased bone density +MONDO:0009395 hyperostosis corticalis generalisata MONDO:8000032 Orphanet:3416 Orphanet:377789 obsolete malformation syndrome +MONDO:0009397 neonatal severe primary hyperparathyroidism MONDO:0015897 Orphanet:417 Orphanet:181408 obsolete rare hyperparathyroidism +MONDO:0009397 neonatal severe primary hyperparathyroidism MONDO:0019705 Orphanet:417 Orphanet:93447 obsolete primary bone dysplasia with defective bone mineralization +MONDO:0009400 hyperprolinemia type 1 MONDO:0016399 Orphanet:419 Orphanet:225689 obsolete amino acid or protein metabolism disease with epilepsy +MONDO:0009400 hyperprolinemia type 1 MONDO:0019058 Orphanet:419 Orphanet:68385 obsolete neurometabolic disease +MONDO:0009400 hyperprolinemia type 1 MONDO:0035862 Orphanet:419 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome +MONDO:0009401 hyperprolinemia type 2 MONDO:0016399 Orphanet:79101 Orphanet:225689 obsolete amino acid or protein metabolism disease with epilepsy +MONDO:0009401 hyperprolinemia type 2 MONDO:0019058 Orphanet:79101 Orphanet:68385 obsolete neurometabolic disease +MONDO:0009402 acrofrontofacionasal dysostosis 2 MONDO:0015620 Orphanet:2211 Orphanet:165707 obsolete syndromic urogenital tract malformation +MONDO:0009402 acrofrontofacionasal dysostosis 2 MONDO:0043008 Orphanet:2211 Orphanet:330206 obsolete genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability +MONDO:0009402 acrofrontofacionasal dysostosis 2 MONDO:8000032 Orphanet:2211 Orphanet:377789 obsolete malformation syndrome +MONDO:0009404 hypertelorism, microtia, facial clefting syndrome MONDO:0015334 Orphanet:2213 Orphanet:139036 obsolete branchial arch or oral-acral syndrome +MONDO:0009404 hypertelorism, microtia, facial clefting syndrome MONDO:0015335 Orphanet:2213 Orphanet:139039 obsolete Mendelian syndromes with cleft lip/palate +MONDO:0009404 hypertelorism, microtia, facial clefting syndrome MONDO:0026189 Orphanet:2213 Orphanet:183576 obsolete genetic branchial arch or oral-acral syndrome +MONDO:0009404 hypertelorism, microtia, facial clefting syndrome MONDO:0035863 Orphanet:2213 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0009404 hypertelorism, microtia, facial clefting syndrome MONDO:8000032 Orphanet:2213 Orphanet:377789 obsolete malformation syndrome +MONDO:0009405 cervical hypertrichosis-peripheral neuropathy syndrome MONDO:0017121 Orphanet:2218 Orphanet:269546 obsolete syndrome with a Dandy-Walker malformation as major feature +MONDO:0009406 hypertrichotic osteochondrodysplasia Cantu type MONDO:0035863 Orphanet:1517 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0009406 hypertrichotic osteochondrodysplasia Cantu type MONDO:0800085 Orphanet:1517 Orphanet:93453 obsolete dysostosis with predominant craniofacial involvement +MONDO:0009406 hypertrichotic osteochondrodysplasia Cantu type MONDO:8000032 Orphanet:1517 Orphanet:377789 obsolete malformation syndrome +MONDO:0009411 autoimmune polyendocrine syndrome type 1 MONDO:0015709 Orphanet:3453 Orphanet:169355 obsolete immunodeficiency syndrome with autoimmunity +MONDO:0009411 autoimmune polyendocrine syndrome type 1 MONDO:0015896 Orphanet:3453 Orphanet:181405 obsolete rare hypoparathyroidism +MONDO:0009411 autoimmune polyendocrine syndrome type 1 MONDO:0018401 Orphanet:3453 Orphanet:399853 obsolete female infertility due to an anomaly of ovarian function +MONDO:0009411 autoimmune polyendocrine syndrome type 1 MONDO:0020225 Orphanet:3453 Orphanet:98641 obsolete syndromic cataract +MONDO:0009411 autoimmune polyendocrine syndrome type 1 MONDO:0020999 Orphanet:3453 Orphanet:101960 obsolete genetic chronic primary adrenal insufficiency +MONDO:0009411 autoimmune polyendocrine syndrome type 1 MONDO:0026209 Orphanet:3453 Orphanet:183643 obsolete genetic polyendocrinopathy +MONDO:0009414 glycogen storage disorder due to hepatic glycogen synthase deficiency MONDO:0017693 Orphanet:2089 Orphanet:308520 obsolete glycogen storage disease due to glycogen synthase deficiency +MONDO:0009416 hypoinsulinemic hypoglycemia and body hemihypertrophy MONDO:0015513 Orphanet:293964 Orphanet:156638 obsolete rare genetic endocrine disease +MONDO:0009416 hypoinsulinemic hypoglycemia and body hemihypertrophy MONDO:0020005 Orphanet:293964 Orphanet:97978 obsolete rare endocrine disease +MONDO:0009417 hypergonadotropic hypogonadism-cataract syndrome MONDO:0015906 Orphanet:2410 Orphanet:181441 obsolete rare disorder with hypergonadotropic hypogonadism +MONDO:0009417 hypergonadotropic hypogonadism-cataract syndrome MONDO:0020225 Orphanet:2410 Orphanet:98641 obsolete syndromic cataract +MONDO:0009417 hypergonadotropic hypogonadism-cataract syndrome MONDO:8000032 Orphanet:2410 Orphanet:377789 obsolete malformation syndrome +MONDO:0009419 Woodhouse-Sakati syndrome MONDO:0015888 Orphanet:3464 Orphanet:181381 obsolete other rare diabetes mellitus +MONDO:0009419 Woodhouse-Sakati syndrome MONDO:0015890 Orphanet:3464 Orphanet:181387 obsolete rare disorder with congenital hypogonadotropic hypogonadism +MONDO:0009419 Woodhouse-Sakati syndrome MONDO:0015906 Orphanet:3464 Orphanet:181441 obsolete rare disorder with hypergonadotropic hypogonadism +MONDO:0009419 Woodhouse-Sakati syndrome MONDO:0018265 Orphanet:3464 Orphanet:370106 obsolete rare disorder with dystonia and other neurologic or systemic manifestation +MONDO:0009419 Woodhouse-Sakati syndrome MONDO:0035862 Orphanet:3464 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome +MONDO:0009420 primary hypergonadotropic hypogonadism-partial alopecia syndrome MONDO:0015906 Orphanet:2232 Orphanet:181441 obsolete rare disorder with hypergonadotropic hypogonadism +MONDO:0009424 Bartter disease type 2 MONDO:8000031 Orphanet:620220 Orphanet:557494 obsolete subtype of a disorder +MONDO:0009425 hypomandibular faciocranial dysostosis MONDO:0020018 Orphanet:1790 Orphanet:98038 obsolete cranial malformation +MONDO:0009425 hypomandibular faciocranial dysostosis MONDO:0026182 Orphanet:1790 Orphanet:183542 obsolete genetic cranial malformation +MONDO:0009425 hypomandibular faciocranial dysostosis MONDO:0035863 Orphanet:1790 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0009425 hypomandibular faciocranial dysostosis MONDO:8000032 Orphanet:1790 Orphanet:377789 obsolete malformation syndrome +MONDO:0009426 hypoparathyroidism-retardation-dysmorphism syndrome MONDO:0015895 Orphanet:2323 Orphanet:181402 obsolete syndrome with hypoparathyroidism +MONDO:0009426 hypoparathyroidism-retardation-dysmorphism syndrome MONDO:0035863 Orphanet:2323 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0009426 hypoparathyroidism-retardation-dysmorphism syndrome MONDO:8000032 Orphanet:2323 Orphanet:377789 obsolete malformation syndrome +MONDO:0009427 obsolete infantile hypophosphatasia MONDO:0015338 Orphanet:247651 Orphanet:139393 syndromic craniosynostosis +MONDO:0009427 obsolete infantile hypophosphatasia MONDO:0018570 Orphanet:247651 Orphanet:436 hypophosphatasia +MONDO:0009427 obsolete infantile hypophosphatasia MONDO:0020014 Orphanet:247651 Orphanet:98027 obsolete rare disease with odontological manifestation +MONDO:0009427 obsolete infantile hypophosphatasia MONDO:8000031 Orphanet:247651 Orphanet:557494 obsolete subtype of a disorder +MONDO:0009428 obsolete childhood hypophosphatasia MONDO:0015338 Orphanet:247667 Orphanet:139393 syndromic craniosynostosis +MONDO:0009428 obsolete childhood hypophosphatasia MONDO:0018570 Orphanet:247667 Orphanet:436 hypophosphatasia +MONDO:0009428 obsolete childhood hypophosphatasia MONDO:0020014 Orphanet:247667 Orphanet:98027 obsolete rare disease with odontological manifestation +MONDO:0009428 obsolete childhood hypophosphatasia MONDO:8000031 Orphanet:247667 Orphanet:557494 obsolete subtype of a disorder +MONDO:0009435 hypospadias-intellectual disability, Goldblatt type syndrome MONDO:0015620 Orphanet:2261 Orphanet:165707 obsolete syndromic urogenital tract malformation +MONDO:0009435 hypospadias-intellectual disability, Goldblatt type syndrome MONDO:0035863 Orphanet:2261 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0009435 hypospadias-intellectual disability, Goldblatt type syndrome MONDO:8000032 Orphanet:2261 Orphanet:377789 obsolete malformation syndrome +MONDO:0009437 Bamforth-Lazarus syndrome MONDO:0015335 Orphanet:1226 Orphanet:139039 obsolete Mendelian syndromes with cleft lip/palate +MONDO:0009437 Bamforth-Lazarus syndrome MONDO:0015778 Orphanet:1226 Orphanet:177107 obsolete syndromic hypothyroidism +MONDO:0009437 Bamforth-Lazarus syndrome MONDO:8000032 Orphanet:1226 Orphanet:377789 obsolete malformation syndrome +MONDO:0009444 ichthyosis-alopecia-eclabion-ectropion-intellectual disability syndrome MONDO:0017272 Orphanet:2269 Orphanet:281238 obsolete autosomal ichthyosis syndrome with prominent neurologics signs +MONDO:0009444 ichthyosis-alopecia-eclabion-ectropion-intellectual disability syndrome MONDO:0020162 Orphanet:2269 Orphanet:98571 obsolete secondary ectropion +MONDO:0009444 ichthyosis-alopecia-eclabion-ectropion-intellectual disability syndrome MONDO:0035862 Orphanet:2269 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome +MONDO:0009445 ichthyosis-hepatosplenomegaly-cerebellar degeneration syndrome MONDO:0029102 Orphanet:2274 Orphanet:281244 obsolete autosomal ichthyosis syndrome with other associated signs +MONDO:0009446 ichthyosis-intellectual disability-dwarfism-renal impairment syndrome MONDO:0019721 Orphanet:2278 Orphanet:93547 obsolete syndromic renal or urinary tract malformation +MONDO:0009446 ichthyosis-intellectual disability-dwarfism-renal impairment syndrome MONDO:0020225 Orphanet:2278 Orphanet:98641 obsolete syndromic cataract +MONDO:0009446 ichthyosis-intellectual disability-dwarfism-renal impairment syndrome MONDO:0029102 Orphanet:2278 Orphanet:281244 obsolete autosomal ichthyosis syndrome with other associated signs +MONDO:0009446 ichthyosis-intellectual disability-dwarfism-renal impairment syndrome MONDO:0035863 Orphanet:2278 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0009446 ichthyosis-intellectual disability-dwarfism-renal impairment syndrome MONDO:8000032 Orphanet:2278 Orphanet:377789 obsolete malformation syndrome +MONDO:0009451 Nezelof syndrome MONDO:0018036 Orphanet:83471 Orphanet:331220 obsolete immunodeficiency due to absence of thymus +MONDO:0009452 Vici syndrome MONDO:0016055 Orphanet:1493 Orphanet:199639 obsolete syndrome with corpus callosum agenesis /dysgenesis as a major feature +MONDO:0009452 Vici syndrome MONDO:0016337 Orphanet:1493 Orphanet:217619 obsolete syndrome associated with dilated cardiomyopathy +MONDO:0009452 Vici syndrome MONDO:0017118 Orphanet:1493 Orphanet:269523 obsolete syndrome with a cerebellar malformation as major feature +MONDO:0009452 Vici syndrome MONDO:0017122 Orphanet:1493 Orphanet:269573 obsolete genetic syndrome with corpus callosum agenesis/dysgenesis as a major feature +MONDO:0009452 Vici syndrome MONDO:0018035 Orphanet:1493 Orphanet:331217 obsolete syndrome with combined immunodeficiency +MONDO:0009452 Vici syndrome MONDO:0020225 Orphanet:1493 Orphanet:98641 obsolete syndromic cataract +MONDO:0009452 Vici syndrome MONDO:0035863 Orphanet:1493 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0009452 Vici syndrome MONDO:0043008 Orphanet:1493 Orphanet:330206 obsolete genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability +MONDO:0009452 Vici syndrome MONDO:8000032 Orphanet:1493 Orphanet:377789 obsolete malformation syndrome +MONDO:0009458 Schimke immuno-osseous dysplasia MONDO:0015877 Orphanet:1830 Orphanet:180766 obsolete malformative syndrome with dentinogenesis imperfecta +MONDO:0009459 channelopathy-associated congenital insensitivity to pain, autosomal recessive MONDO:0015366 Orphanet:88642 Orphanet:140477 obsolete autosomal recessive hereditary sensory and autonomic neuropathy +MONDO:0009461 spermatogenic failure 5 MONDO:8000031 Orphanet:137893 Orphanet:557494 obsolete subtype of a disorder +MONDO:0009465 multiple intestinal atresia MONDO:0015211 Orphanet:2300 Orphanet:108967 obsolete non-syndromic intestinal malformation +MONDO:0009465 multiple intestinal atresia MONDO:0018035 Orphanet:2300 Orphanet:331217 obsolete syndrome with combined immunodeficiency +MONDO:0009465 multiple intestinal atresia MONDO:8000030 Orphanet:2300 Orphanet:377791 obsolete morphological anomaly +MONDO:0009468 pseudotumor cerebri MONDO:0020009 Orphanet:238624 Orphanet:98006 obsolete rare neurologic disease +MONDO:0009469 benign recurrent intrahepatic cholestasis type 1 MONDO:8000031 Orphanet:99960 Orphanet:557494 obsolete subtype of a disorder +MONDO:0009473 isotretinoin-like syndrome MONDO:0035863 Orphanet:2306 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0009473 isotretinoin-like syndrome MONDO:8000032 Orphanet:2306 Orphanet:377789 obsolete malformation syndrome +MONDO:0009475 isovaleric acidemia MONDO:0035862 Orphanet:33 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome +MONDO:0009476 atresia of small intestine MONDO:0015211 Orphanet:1201 Orphanet:108967 obsolete non-syndromic intestinal malformation +MONDO:0009476 atresia of small intestine MONDO:0018241 Orphanet:1201 Orphanet:365563 obsolete primary short bowel syndrome +MONDO:0009476 atresia of small intestine MONDO:8000030 Orphanet:1201 Orphanet:377791 obsolete morphological anomaly +MONDO:0009477 Stromme syndrome MONDO:0015212 Orphanet:506307 Orphanet:108969 obsolete syndromic intestinal malformation +MONDO:0009477 Stromme syndrome MONDO:0017120 Orphanet:444069 Orphanet:269531 obsolete other syndrome with a central nervous system malformation as major feature +MONDO:0009477 Stromme syndrome MONDO:0018731 Orphanet:444069 Orphanet:459787 obsolete lethal multiple congenital anomalies/dysmorphic syndrome +MONDO:0009477 Stromme syndrome MONDO:0019721 Orphanet:444069 Orphanet:93547 obsolete syndromic renal or urinary tract malformation +MONDO:0009477 Stromme syndrome MONDO:0022409 Orphanet:444069 Orphanet:156162 obsolete nephropathy-associated ciliopathy +MONDO:0009477 Stromme syndrome MONDO:0022409 Orphanet:506307 Orphanet:156162 obsolete nephropathy-associated ciliopathy +MONDO:0009477 Stromme syndrome MONDO:0035863 Orphanet:506307 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0009477 Stromme syndrome MONDO:8000032 Orphanet:444069 Orphanet:377789 obsolete malformation syndrome +MONDO:0009477 Stromme syndrome MONDO:8000032 Orphanet:506307 Orphanet:377789 obsolete malformation syndrome +MONDO:0009479 Johanson-Blizzard syndrome MONDO:0015246 Orphanet:2315 Orphanet:117573 obsolete syndromic anorectal malformation +MONDO:0009479 Johanson-Blizzard syndrome MONDO:0015329 Orphanet:2315 Orphanet:139021 obsolete malformation syndrome with short stature +MONDO:0009479 Johanson-Blizzard syndrome MONDO:0015778 Orphanet:2315 Orphanet:177107 obsolete syndromic hypothyroidism +MONDO:0009479 Johanson-Blizzard syndrome MONDO:0019827 Orphanet:2315 Orphanet:95495 obsolete disease associated with non-acquired combined pituitary hormone deficiency +MONDO:0009479 Johanson-Blizzard syndrome MONDO:0026187 Orphanet:2315 Orphanet:183570 obsolete genetic malformation syndrome with short stature +MONDO:0009479 Johanson-Blizzard syndrome MONDO:0035863 Orphanet:2315 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0009479 Johanson-Blizzard syndrome MONDO:8000032 Orphanet:2315 Orphanet:377789 obsolete malformation syndrome +MONDO:0009480 Joubert syndrome with oculorenal defect MONDO:0017118 Orphanet:2318 Orphanet:269523 obsolete syndrome with a cerebellar malformation as major feature +MONDO:0009480 Joubert syndrome with oculorenal defect MONDO:0022409 Orphanet:2318 Orphanet:156162 obsolete nephropathy-associated ciliopathy +MONDO:0009480 Joubert syndrome with oculorenal defect MONDO:0034953 Orphanet:2318 Orphanet:519325 obsolete syndromic inherited retinal disorder +MONDO:0009480 Joubert syndrome with oculorenal defect MONDO:0035863 Orphanet:2318 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0009480 Joubert syndrome with oculorenal defect MONDO:8000032 Orphanet:2318 Orphanet:377789 obsolete malformation syndrome +MONDO:0009483 Kapur-Toriello syndrome MONDO:0015335 Orphanet:2328 Orphanet:139039 obsolete Mendelian syndromes with cleft lip/palate +MONDO:0009483 Kapur-Toriello syndrome MONDO:0035863 Orphanet:2328 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0009483 Kapur-Toriello syndrome MONDO:8000032 Orphanet:2328 Orphanet:377789 obsolete malformation syndrome +MONDO:0009485 oculocerebrofacial syndrome, Kaufman type MONDO:0035863 Orphanet:2707 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0009485 oculocerebrofacial syndrome, Kaufman type MONDO:8000032 Orphanet:2707 Orphanet:377789 obsolete malformation syndrome +MONDO:0009486 autosomal recessive Kenny-Caffey syndrome MONDO:8000031 Orphanet:93324 Orphanet:557494 obsolete subtype of a disorder +MONDO:0009489 hereditary palmoplantar keratoderma, Gamborg-Nielsen type MONDO:0020096 Orphanet:86923 Orphanet:98356 obsolete autosomal recessive isolated diffuse palmoplantar keratoderma +MONDO:0009490 Papillon-Lefevre disease MONDO:0015336 Orphanet:678 Orphanet:139042 obsolete malformation syndrome with odontal and/or periodontal component +MONDO:0009490 Papillon-Lefevre disease MONDO:0017671 Orphanet:678 Orphanet:307804 obsolete autosomal recessive disease with diffuse palmoplantar keratoderma as a major feature +MONDO:0009490 Papillon-Lefevre disease MONDO:0026190 Orphanet:678 Orphanet:183580 obsolete genetic malformation syndrome with odontal and/or periodontal component +MONDO:0009491 Haim-Munk syndrome MONDO:0015336 Orphanet:2342 Orphanet:139042 obsolete malformation syndrome with odontal and/or periodontal component +MONDO:0009491 Haim-Munk syndrome MONDO:0017671 Orphanet:2342 Orphanet:307804 obsolete autosomal recessive disease with diffuse palmoplantar keratoderma as a major feature +MONDO:0009491 Haim-Munk syndrome MONDO:0026190 Orphanet:2342 Orphanet:183580 obsolete genetic malformation syndrome with odontal and/or periodontal component +MONDO:0009493 Richards-Rundle syndrome MONDO:0019589 Orphanet:1399 Orphanet:90642 obsolete syndromic genetic hearing loss +MONDO:0009493 Richards-Rundle syndrome MONDO:0035863 Orphanet:1399 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0009493 Richards-Rundle syndrome MONDO:8000032 Orphanet:1399 Orphanet:377789 obsolete malformation syndrome +MONDO:0009495 Keutel syndrome MONDO:0035863 Orphanet:85202 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0009495 Keutel syndrome MONDO:8000032 Orphanet:85202 Orphanet:377789 obsolete malformation syndrome +MONDO:0009498 lethal Kniest-like dysplasia MONDO:0019718 Orphanet:2347 Orphanet:93465 obsolete lethal chondrodysplasia +MONDO:0009498 lethal Kniest-like dysplasia MONDO:8000032 Orphanet:2347 Orphanet:377789 obsolete malformation syndrome +MONDO:0009499 Krabbe disease MONDO:0015918 Orphanet:487 Orphanet:182070 obsolete rare neurodegenerative disease +MONDO:0009499 Krabbe disease MONDO:0018299 Orphanet:487 Orphanet:371442 obsolete sphingolipidosis with epilepsy +MONDO:0009499 Krabbe disease MONDO:0018609 Orphanet:487 Orphanet:441434 obsolete syndromic hereditary optic neuropathy +MONDO:0009499 Krabbe disease MONDO:0019058 Orphanet:487 Orphanet:68385 obsolete neurometabolic disease +MONDO:0009502 pyruvate dehydrogenase E2 deficiency MONDO:8000031 Orphanet:79244 Orphanet:557494 obsolete subtype of a disorder +MONDO:0009503 pyruvate dehydrogenase E3-binding protein deficiency MONDO:8000031 Orphanet:255182 Orphanet:557494 obsolete subtype of a disorder +MONDO:0009507 Lambert syndrome MONDO:0015334 Orphanet:1296 Orphanet:139036 obsolete branchial arch or oral-acral syndrome +MONDO:0009507 Lambert syndrome MONDO:0015495 Orphanet:1296 Orphanet:156202 obsolete otomandibular dysplasia associated with monogenic syndromes +MONDO:0009507 Lambert syndrome MONDO:0026189 Orphanet:1296 Orphanet:183576 obsolete genetic branchial arch or oral-acral syndrome +MONDO:0009507 Lambert syndrome MONDO:0035863 Orphanet:1296 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0009507 Lambert syndrome MONDO:8000032 Orphanet:1296 Orphanet:377789 obsolete malformation syndrome +MONDO:0009511 Larsen-like syndrome, B3GAT3 type MONDO:0015332 Orphanet:284139 Orphanet:139030 obsolete rare developmental defect with connective tissue involvement +MONDO:0009511 Larsen-like syndrome, B3GAT3 type MONDO:0017742 Orphanet:284139 Orphanet:309450 obsolete disorder of O-xylosylglycan synthesis +MONDO:0009511 Larsen-like syndrome, B3GAT3 type MONDO:0018290 Orphanet:284139 Orphanet:371183 obsolete congenital disorder of glycosylation with cardiac malformation as a major feature +MONDO:0009511 Larsen-like syndrome, B3GAT3 type MONDO:0018292 Orphanet:284139 Orphanet:371195 obsolete congenital disorder of glycosylation-related bone disorder +MONDO:0009511 Larsen-like syndrome, B3GAT3 type MONDO:0800086 Orphanet:284139 Orphanet:93441 obsolete primary bone dysplasia with multiple joint dislocations +MONDO:0009511 Larsen-like syndrome, B3GAT3 type MONDO:8000032 Orphanet:284139 Orphanet:377789 obsolete malformation syndrome +MONDO:0009512 lethal Larsen-like syndrome MONDO:0015332 Orphanet:2371 Orphanet:139030 obsolete rare developmental defect with connective tissue involvement +MONDO:0009512 lethal Larsen-like syndrome MONDO:0800086 Orphanet:2371 Orphanet:93441 obsolete primary bone dysplasia with multiple joint dislocations +MONDO:0009512 lethal Larsen-like syndrome MONDO:8000032 Orphanet:2371 Orphanet:377789 obsolete malformation syndrome +MONDO:0009513 laryngo-onycho-cutaneous syndrome MONDO:0015221 Orphanet:2407 Orphanet:108993 obsolete non-syndromic respiratory or mediastinal malformation +MONDO:0009513 laryngo-onycho-cutaneous syndrome MONDO:0015222 Orphanet:2407 Orphanet:108995 obsolete syndromic respiratory or mediastinal malformation +MONDO:0009513 laryngo-onycho-cutaneous syndrome MONDO:0015930 Orphanet:2407 Orphanet:182111 obsolete respiratory malformation +MONDO:0009513 laryngo-onycho-cutaneous syndrome MONDO:0020014 Orphanet:2407 Orphanet:98027 obsolete rare disease with odontological manifestation +MONDO:0009513 laryngo-onycho-cutaneous syndrome MONDO:0020198 Orphanet:2407 Orphanet:98610 obsolete rare conjunctival disease +MONDO:0009513 laryngo-onycho-cutaneous syndrome MONDO:0026203 Orphanet:2407 Orphanet:183622 obsolete genetic respiratory malformation +MONDO:0009514 Laurence-Moon syndrome MONDO:0015890 Orphanet:2377 Orphanet:181387 obsolete rare disorder with congenital hypogonadotropic hypogonadism +MONDO:0009514 Laurence-Moon syndrome MONDO:0020240 Orphanet:2377 Orphanet:98661 obsolete syndromic retinitis pigmentosa +MONDO:0009514 Laurence-Moon syndrome MONDO:0022407 Orphanet:2377 Orphanet:156183 obsolete retinal ciliopathy due to mutation in Bardet-Biedl gene +MONDO:0009514 Laurence-Moon syndrome MONDO:0035863 Orphanet:2377 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0009514 Laurence-Moon syndrome MONDO:8000032 Orphanet:2377 Orphanet:377789 obsolete malformation syndrome +MONDO:0009515 Norum disease MONDO:0015910 Orphanet:79293 Orphanet:182043 obsolete rare constitutional hemolytic anemia +MONDO:0009515 Norum disease MONDO:8000031 Orphanet:79293 Orphanet:557494 obsolete subtype of a disorder +MONDO:0009516 absence deformity of leg-cataract syndrome MONDO:0017432 Orphanet:2310 Orphanet:294955 obsolete syndrome with limb reduction defects +MONDO:0009516 absence deformity of leg-cataract syndrome MONDO:0020225 Orphanet:2310 Orphanet:98641 obsolete syndromic cataract +MONDO:0009516 absence deformity of leg-cataract syndrome MONDO:8000032 Orphanet:2310 Orphanet:377789 obsolete malformation syndrome +MONDO:0009517 Donohue syndrome MONDO:0015885 Orphanet:508 Orphanet:181368 obsolete rare insulin-resistance syndrome +MONDO:0009517 Donohue syndrome MONDO:0031689 Orphanet:508 Orphanet:363245 obsolete genetic progeroid syndrome +MONDO:0009517 Donohue syndrome MONDO:0043008 Orphanet:508 Orphanet:330206 obsolete genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability +MONDO:0009517 Donohue syndrome MONDO:8000032 Orphanet:508 Orphanet:377789 obsolete malformation syndrome +MONDO:0009522 Leukomelanoderma-infantilism-intellectual disability-hypodontia-hypotrichosis syndrome MONDO:0035863 Orphanet:1816 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0009522 Leukomelanoderma-infantilism-intellectual disability-hypodontia-hypotrichosis syndrome MONDO:8000032 Orphanet:1816 Orphanet:377789 obsolete malformation syndrome +MONDO:0009523 Lichtenstein syndrome MONDO:0018032 Orphanet:2390 Orphanet:331184 obsolete constitutional neutropenia with extra-hematopoietic manifestations +MONDO:0009524 intellectual disability-spasticity-ectrodactyly syndrome MONDO:0017432 Orphanet:1891 Orphanet:294955 obsolete syndrome with limb reduction defects +MONDO:0009524 intellectual disability-spasticity-ectrodactyly syndrome MONDO:0035863 Orphanet:1891 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0009524 intellectual disability-spasticity-ectrodactyly syndrome MONDO:8000032 Orphanet:1891 Orphanet:377789 obsolete malformation syndrome +MONDO:0009525 split hand-foot malformation 3 MONDO:0035863 Orphanet:1307 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0009525 split hand-foot malformation 3 MONDO:8000032 Orphanet:1307 Orphanet:377789 obsolete malformation syndrome +MONDO:0009527 lipase deficiency, combined MONDO:8000031 Orphanet:535453 Orphanet:557494 obsolete subtype of a disorder +MONDO:0009528 chylomicron retention disease MONDO:0015180 Orphanet:71 Orphanet:104005 obsolete intestinal disease due to fat malabsorption +MONDO:0009528 chylomicron retention disease MONDO:0031698 Orphanet:71 Orphanet:363306 obsolete genetic intestinal disease due to fat malabsorption +MONDO:0009529 pyruvate dehydrogenase E3 deficiency MONDO:8000031 Orphanet:2394 Orphanet:557494 obsolete subtype of a disorder +MONDO:0009530 lipoid proteinosis MONDO:0015331 Orphanet:530 Orphanet:139027 obsolete malformation syndrome with skin/mucosae involvement +MONDO:0009530 lipoid proteinosis MONDO:0018798 Orphanet:530 Orphanet:477808 obsolete other genetic dermis disorder +MONDO:0009530 lipoid proteinosis MONDO:8000032 Orphanet:530 Orphanet:377789 obsolete malformation syndrome +MONDO:0009532 Miller-Dieker lissencephaly syndrome MONDO:0015652 Orphanet:531 Orphanet:166469 obsolete chromosomal anomaly with epilepsy as a major feature +MONDO:0009532 Miller-Dieker lissencephaly syndrome MONDO:8000032 Orphanet:531 Orphanet:377789 obsolete malformation syndrome +MONDO:0009533 Dahlberg-Borer-Newcomer syndrome MONDO:0015895 Orphanet:1563 Orphanet:181402 obsolete syndrome with hypoparathyroidism +MONDO:0009533 Dahlberg-Borer-Newcomer syndrome MONDO:0020225 Orphanet:1563 Orphanet:98641 obsolete syndromic cataract +MONDO:0009533 Dahlberg-Borer-Newcomer syndrome MONDO:0035470 Orphanet:1563 Orphanet:568044 obsolete primary lymphedema with systemic or visceral involvement +MONDO:0009533 Dahlberg-Borer-Newcomer syndrome MONDO:0043008 Orphanet:1563 Orphanet:330206 obsolete genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability +MONDO:0009533 Dahlberg-Borer-Newcomer syndrome MONDO:8000032 Orphanet:1563 Orphanet:377789 obsolete malformation syndrome +MONDO:0009543 prominent glabella-microcephaly-hypogenitalism syndrome MONDO:0035863 Orphanet:2083 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0009543 prominent glabella-microcephaly-hypogenitalism syndrome MONDO:8000032 Orphanet:2083 Orphanet:377789 obsolete malformation syndrome +MONDO:0009547 macrosomia-microphthalmia-cleft palate syndrome MONDO:0015335 Orphanet:2432 Orphanet:139039 obsolete Mendelian syndromes with cleft lip/palate +MONDO:0009547 macrosomia-microphthalmia-cleft palate syndrome MONDO:0018731 Orphanet:2432 Orphanet:459787 obsolete lethal multiple congenital anomalies/dysmorphic syndrome +MONDO:0009547 macrosomia-microphthalmia-cleft palate syndrome MONDO:8000032 Orphanet:2432 Orphanet:377789 obsolete malformation syndrome +MONDO:0009548 renal hypomagnesemia 5 with ocular involvement MONDO:0020240 Orphanet:2196 Orphanet:98661 obsolete syndromic retinitis pigmentosa +MONDO:0009548 renal hypomagnesemia 5 with ocular involvement MONDO:8000031 Orphanet:2196 Orphanet:557494 obsolete subtype of a disorder +MONDO:0009550 renal hypomagnesemia 3 MONDO:8000031 Orphanet:31043 Orphanet:557494 obsolete subtype of a disorder +MONDO:0009552 mal de Meleda MONDO:0020096 Orphanet:87503 Orphanet:98356 obsolete autosomal recessive isolated diffuse palmoplantar keratoderma +MONDO:0009556 malonic aciduria MONDO:0017717 Orphanet:943 Orphanet:309133 obsolete metabolic disease due to other fatty acid oxidation disorder +MONDO:0009557 mandibuloacral dysplasia with type A lipodystrophy MONDO:0029812 Orphanet:90153 Orphanet:300763 obsolete laminopathy with lipodystrophy +MONDO:0009557 mandibuloacral dysplasia with type A lipodystrophy MONDO:8000031 Orphanet:90153 Orphanet:557494 obsolete subtype of a disorder +MONDO:0009560 oculotrichoanal syndrome MONDO:0020157 Orphanet:2717 Orphanet:98566 obsolete syndromic palpebral coloboma +MONDO:0009560 oculotrichoanal syndrome MONDO:0043008 Orphanet:2717 Orphanet:330206 obsolete genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability +MONDO:0009560 oculotrichoanal syndrome MONDO:8000032 Orphanet:2717 Orphanet:377789 obsolete malformation syndrome +MONDO:0009561 alpha-mannosidosis MONDO:0019058 Orphanet:61 Orphanet:68385 obsolete neurometabolic disease +MONDO:0009561 alpha-mannosidosis MONDO:0020228 Orphanet:61 Orphanet:98644 obsolete cataract associated with a metabolic disease +MONDO:0009561 alpha-mannosidosis MONDO:0035862 Orphanet:61 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome +MONDO:0009562 beta-mannosidosis MONDO:0016133 Orphanet:118 Orphanet:207018 obsolete rare hereditary metabolic disease with peripheral neuropathy +MONDO:0009562 beta-mannosidosis MONDO:0016326 Orphanet:118 Orphanet:217581 obsolete lysosomal disease with hypertrophic cardiomyopathy +MONDO:0009562 beta-mannosidosis MONDO:0035862 Orphanet:118 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome +MONDO:0009563 maple syrup urine disease MONDO:0035862 Orphanet:511 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome +MONDO:0009564 Marden-Walker syndrome MONDO:0015501 Orphanet:2461 Orphanet:156237 obsolete syndrome or malformation associated with head and neck malformations +MONDO:0009564 Marden-Walker syndrome MONDO:0035863 Orphanet:2461 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0009564 Marden-Walker syndrome MONDO:8000032 Orphanet:2461 Orphanet:377789 obsolete malformation syndrome +MONDO:0009565 microcephaly-glomerulonephritis-marfanoid habitus syndrome MONDO:0035863 Orphanet:2172 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0009565 microcephaly-glomerulonephritis-marfanoid habitus syndrome MONDO:8000032 Orphanet:2172 Orphanet:377789 obsolete malformation syndrome +MONDO:0009566 marfanoid habitus-autosomal recessive intellectual disability syndrome MONDO:0035863 Orphanet:2463 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0009566 marfanoid habitus-autosomal recessive intellectual disability syndrome MONDO:8000032 Orphanet:2463 Orphanet:377789 obsolete malformation syndrome +MONDO:0009567 Marinesco-Sjogren syndrome MONDO:0016136 Orphanet:559 Orphanet:207028 obsolete cerebellar ataxia with peripheral neuropathy +MONDO:0009567 Marinesco-Sjogren syndrome MONDO:0020165 Orphanet:559 Orphanet:98574 obsolete syndromic epicanthus +MONDO:0009567 Marinesco-Sjogren syndrome MONDO:0020225 Orphanet:559 Orphanet:98641 obsolete syndromic cataract +MONDO:0009567 Marinesco-Sjogren syndrome MONDO:0020253 Orphanet:559 Orphanet:98683 obsolete syndrome with a symptomatic strabismus +MONDO:0009567 Marinesco-Sjogren syndrome MONDO:0035862 Orphanet:559 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome +MONDO:0009568 mast syndrome MONDO:0015089 Orphanet:101001 Orphanet:100981 obsolete autosomal recessive complex spastic paraplegia +MONDO:0009569 Hennekam-Beemer syndrome MONDO:0035863 Orphanet:2135 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0009569 Hennekam-Beemer syndrome MONDO:8000032 Orphanet:2135 Orphanet:377789 obsolete malformation syndrome +MONDO:0009570 McDonough syndrome MONDO:0020253 Orphanet:2471 Orphanet:98683 obsolete syndrome with a symptomatic strabismus +MONDO:0009570 McDonough syndrome MONDO:0035863 Orphanet:2471 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0009570 McDonough syndrome MONDO:8000032 Orphanet:2471 Orphanet:377789 obsolete malformation syndrome +MONDO:0009575 thiamine-responsive megaloblastic anemia syndrome MONDO:0015888 Orphanet:49827 Orphanet:181381 obsolete other rare diabetes mellitus +MONDO:0009575 thiamine-responsive megaloblastic anemia syndrome MONDO:0019589 Orphanet:49827 Orphanet:90642 obsolete syndromic genetic hearing loss +MONDO:0009577 megalocornea-intellectual disability syndrome MONDO:0035863 Orphanet:2479 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0009577 megalocornea-intellectual disability syndrome MONDO:8000032 Orphanet:2479 Orphanet:377789 obsolete malformation syndrome +MONDO:0009578 neurocutaneous melanocytosis MONDO:0016756 Orphanet:2481 Orphanet:252190 obsolete inherited nervous system cancer-predisposing syndrome +MONDO:0009578 neurocutaneous melanocytosis MONDO:0017414 Orphanet:2481 Orphanet:294057 obsolete rare nevus +MONDO:0009581 intellectual disability-dysmorphism-hypogonadism-diabetes mellitus syndrome MONDO:0015886 Orphanet:3044 Orphanet:181371 obsolete rare diabetes mellitus type 1 +MONDO:0009581 intellectual disability-dysmorphism-hypogonadism-diabetes mellitus syndrome MONDO:0015906 Orphanet:3044 Orphanet:181441 obsolete rare disorder with hypergonadotropic hypogonadism +MONDO:0009581 intellectual disability-dysmorphism-hypogonadism-diabetes mellitus syndrome MONDO:0035863 Orphanet:3044 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0009581 intellectual disability-dysmorphism-hypogonadism-diabetes mellitus syndrome MONDO:8000032 Orphanet:3044 Orphanet:377789 obsolete malformation syndrome +MONDO:0009582 Mietens syndrome MONDO:0020215 Orphanet:2557 Orphanet:98628 obsolete syndromic corneal dystrophy +MONDO:0009582 Mietens syndrome MONDO:0020253 Orphanet:2557 Orphanet:98683 obsolete syndrome with a symptomatic strabismus +MONDO:0009582 Mietens syndrome MONDO:0035863 Orphanet:2557 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0009582 Mietens syndrome MONDO:8000032 Orphanet:2557 Orphanet:377789 obsolete malformation syndrome +MONDO:0009583 blepharophimosis - intellectual disability syndrome, Ohdo type MONDO:8000032 Orphanet:2728 Orphanet:377789 obsolete malformation syndrome +MONDO:0009584 intellectual disability, Buenos-Aires type MONDO:0035863 Orphanet:3079 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0009584 intellectual disability, Buenos-Aires type MONDO:8000032 Orphanet:3079 Orphanet:377789 obsolete malformation syndrome +MONDO:0009585 encephalopathy due to beta-mercaptolactate-cysteine disulfiduria MONDO:0018652 Orphanet:1035 Orphanet:447874 obsolete biological anomaly without phenotypic characterization +MONDO:0009585 encephalopathy due to beta-mercaptolactate-cysteine disulfiduria MONDO:0032011 Orphanet:1035 Orphanet:377790 obsolete biological anomaly +MONDO:0009588 Langer mesomelic dysplasia MONDO:0019697 Orphanet:2632 Orphanet:93438 obsolete mesomelic and rhizo-mesomelic dysplasia +MONDO:0009588 Langer mesomelic dysplasia MONDO:8000032 Orphanet:2632 Orphanet:377789 obsolete malformation syndrome +MONDO:0009589 mesomelic dwarfism-cleft palate-camptodactyly syndrome MONDO:0015335 Orphanet:2631 Orphanet:139039 obsolete Mendelian syndromes with cleft lip/palate +MONDO:0009589 mesomelic dwarfism-cleft palate-camptodactyly syndrome MONDO:0019697 Orphanet:2631 Orphanet:93438 obsolete mesomelic and rhizo-mesomelic dysplasia +MONDO:0009589 mesomelic dwarfism-cleft palate-camptodactyly syndrome MONDO:0043008 Orphanet:2631 Orphanet:330206 obsolete genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability +MONDO:0009589 mesomelic dwarfism-cleft palate-camptodactyly syndrome MONDO:8000032 Orphanet:2631 Orphanet:377789 obsolete malformation syndrome +MONDO:0009591 metachromatic leukodystrophy, juvenile form MONDO:8000031 Orphanet:309263 Orphanet:557494 obsolete subtype of a disorder +MONDO:0009592 metaphyseal acroscyphodysplasia MONDO:0019693 Orphanet:1240 Orphanet:93430 obsolete multiple metaphyseal dysplasia +MONDO:0009592 metaphyseal acroscyphodysplasia MONDO:0035863 Orphanet:1240 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0009593 spondylometaphyseal dysplasia, Sedaghatian type MONDO:8000032 Orphanet:93317 Orphanet:377789 obsolete malformation syndrome +MONDO:0009594 metaphyseal chondrodysplasia, Kaitila type MONDO:0019693 Orphanet:166038 Orphanet:93430 obsolete multiple metaphyseal dysplasia +MONDO:0009595 cartilage-hair hypoplasia MONDO:0019693 Orphanet:175 Orphanet:93430 obsolete multiple metaphyseal dysplasia +MONDO:0009595 cartilage-hair hypoplasia MONDO:0020253 Orphanet:175 Orphanet:98683 obsolete syndrome with a symptomatic strabismus +MONDO:0009597 metaphyseal chondrodysplasia, Spahr type MONDO:0019693 Orphanet:2501 Orphanet:93430 obsolete multiple metaphyseal dysplasia +MONDO:0009598 metaphyseal chondrodysplasia-retinitis pigmentosa syndrome MONDO:0020240 Orphanet:166035 Orphanet:98661 obsolete syndromic retinitis pigmentosa +MONDO:0009598 metaphyseal chondrodysplasia-retinitis pigmentosa syndrome MONDO:0035863 Orphanet:166035 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0009598 metaphyseal chondrodysplasia-retinitis pigmentosa syndrome MONDO:0800094 Orphanet:166035 Orphanet:498454 obsolete dysostosis with brachydactyly with extraskeletal manifestations +MONDO:0009598 metaphyseal chondrodysplasia-retinitis pigmentosa syndrome MONDO:8000032 Orphanet:166035 Orphanet:377789 obsolete malformation syndrome +MONDO:0009599 metaphyseal dysostosis-intellectual disability-conductive deafness syndrome MONDO:0019589 Orphanet:2502 Orphanet:90642 obsolete syndromic genetic hearing loss +MONDO:0009599 metaphyseal dysostosis-intellectual disability-conductive deafness syndrome MONDO:0019693 Orphanet:2502 Orphanet:93430 obsolete multiple metaphyseal dysplasia +MONDO:0009599 metaphyseal dysostosis-intellectual disability-conductive deafness syndrome MONDO:0035863 Orphanet:2502 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0009599 metaphyseal dysostosis-intellectual disability-conductive deafness syndrome MONDO:8000032 Orphanet:2502 Orphanet:377789 obsolete malformation syndrome +MONDO:0009603 3-hydroxyisobutyryl-CoA hydrolase deficiency MONDO:0019058 Orphanet:88639 Orphanet:68385 obsolete neurometabolic disease +MONDO:0009603 3-hydroxyisobutyryl-CoA hydrolase deficiency MONDO:0035862 Orphanet:88639 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome +MONDO:0009607 methionine adenosyltransferase deficiency MONDO:0019058 Orphanet:168598 Orphanet:68385 obsolete neurometabolic disease +MONDO:0009607 methionine adenosyltransferase deficiency MONDO:0035862 Orphanet:168598 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome +MONDO:0009609 methylcobalamin deficiency type cblG MONDO:8000031 Orphanet:2170 Orphanet:557494 obsolete subtype of a disorder +MONDO:0009610 3-methylglutaconic aciduria type 1 MONDO:0035862 Orphanet:67046 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome +MONDO:0009611 3-methylglutaconic aciduria type 4 MONDO:0020228 Orphanet:67048 Orphanet:98644 obsolete cataract associated with a metabolic disease +MONDO:0009612 methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency MONDO:0017390 Orphanet:27 Orphanet:293355 obsolete methylmalonic acidemia without homocystinuria +MONDO:0009612 methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency MONDO:0019743 Orphanet:27 Orphanet:93593 obsolete nephropathy secondary to a storage or other metabolic disease +MONDO:0009612 methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency MONDO:0035862 Orphanet:27 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome +MONDO:0009613 methylmalonic aciduria, cblA type MONDO:8000031 Orphanet:79310 Orphanet:557494 obsolete subtype of a disorder +MONDO:0009614 methylmalonic aciduria, cblB type MONDO:8000031 Orphanet:79311 Orphanet:557494 obsolete subtype of a disorder +MONDO:0009615 methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency MONDO:0017390 Orphanet:308425 Orphanet:293355 obsolete methylmalonic acidemia without homocystinuria +MONDO:0009616 microcephalic primordial dwarfism, Toriello type MONDO:0017950 Orphanet:2643 Orphanet:324761 obsolete microcephalic primordial dwarfism +MONDO:0009616 microcephalic primordial dwarfism, Toriello type MONDO:0019699 Orphanet:2643 Orphanet:93440 obsolete slender bone dysplasia +MONDO:0009616 microcephalic primordial dwarfism, Toriello type MONDO:0020225 Orphanet:2643 Orphanet:98641 obsolete syndromic cataract +MONDO:0009616 microcephalic primordial dwarfism, Toriello type MONDO:8000032 Orphanet:2643 Orphanet:377789 obsolete malformation syndrome +MONDO:0009618 microcephaly-cardiomyopathy syndrome MONDO:0016337 Orphanet:2515 Orphanet:217619 obsolete syndrome associated with dilated cardiomyopathy +MONDO:0009618 microcephaly-cardiomyopathy syndrome MONDO:0017119 Orphanet:2515 Orphanet:269528 obsolete syndrome with microcephaly as major feature +MONDO:0009618 microcephaly-cardiomyopathy syndrome MONDO:0035863 Orphanet:2515 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0009618 microcephaly-cardiomyopathy syndrome MONDO:8000032 Orphanet:2515 Orphanet:377789 obsolete malformation syndrome +MONDO:0009619 microcephaly-micromelia syndrome MONDO:8000031 Orphanet:572768 Orphanet:557494 obsolete subtype of a disorder +MONDO:0009620 Say-Barber-Miller syndrome MONDO:0018041 Orphanet:3132 Orphanet:331244 obsolete other immunodeficiency syndrome with predominantly antibody defects +MONDO:0009620 Say-Barber-Miller syndrome MONDO:0035863 Orphanet:3132 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0009620 Say-Barber-Miller syndrome MONDO:8000032 Orphanet:3132 Orphanet:377789 obsolete malformation syndrome +MONDO:0009621 microcephaly-cervical spine fusion anomalies syndrome MONDO:0017119 Orphanet:2522 Orphanet:269528 obsolete syndrome with microcephaly as major feature +MONDO:0009621 microcephaly-cervical spine fusion anomalies syndrome MONDO:0035863 Orphanet:2522 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0009621 microcephaly-cervical spine fusion anomalies syndrome MONDO:8000032 Orphanet:2522 Orphanet:377789 obsolete malformation syndrome +MONDO:0009622 Jawad syndrome MONDO:0017119 Orphanet:313795 Orphanet:269528 obsolete syndrome with microcephaly as major feature +MONDO:0009622 Jawad syndrome MONDO:0035863 Orphanet:313795 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0009622 Jawad syndrome MONDO:8000032 Orphanet:313795 Orphanet:377789 obsolete malformation syndrome +MONDO:0009623 Nijmegen breakage syndrome MONDO:0015707 Orphanet:647 Orphanet:169346 obsolete DNA repair defect other than combined T-cell and B-cell immunodeficiencies +MONDO:0009623 Nijmegen breakage syndrome MONDO:0015945 Orphanet:647 Orphanet:183422 obsolete polymalformative genetic syndrome with increased risk of developing cancer +MONDO:0009623 Nijmegen breakage syndrome MONDO:0035863 Orphanet:647 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0009623 Nijmegen breakage syndrome MONDO:0043008 Orphanet:647 Orphanet:330206 obsolete genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability +MONDO:0009623 Nijmegen breakage syndrome MONDO:8000032 Orphanet:647 Orphanet:377789 obsolete malformation syndrome +MONDO:0009624 microcephaly and chorioretinopathy 1 MONDO:0034953 Orphanet:2518 Orphanet:519325 obsolete syndromic inherited retinal disorder +MONDO:0009624 microcephaly and chorioretinopathy 1 MONDO:0035863 Orphanet:2518 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0009624 microcephaly and chorioretinopathy 1 MONDO:8000032 Orphanet:2518 Orphanet:377789 obsolete malformation syndrome +MONDO:0009626 pseudo-TORCH syndrome MONDO:0035863 Orphanet:1229 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0009626 pseudo-TORCH syndrome MONDO:8000032 Orphanet:1229 Orphanet:377789 obsolete malformation syndrome +MONDO:0009627 Galloway-Mowat syndrome MONDO:0017120 Orphanet:2065 Orphanet:269531 obsolete other syndrome with a central nervous system malformation as major feature +MONDO:0009627 Galloway-Mowat syndrome MONDO:0035863 Orphanet:2065 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0009627 Galloway-Mowat syndrome MONDO:8000032 Orphanet:2065 Orphanet:377789 obsolete malformation syndrome +MONDO:0009635 microvillus inclusion disease MONDO:0015182 Orphanet:2290 Orphanet:104007 obsolete congenital enteropathy involving intestinal mucosa development +MONDO:0009635 microvillus inclusion disease MONDO:0019126 Orphanet:2290 Orphanet:73014 obsolete intractable diarrhea of infancy +MONDO:0009635 microvillus inclusion disease MONDO:0031697 Orphanet:2290 Orphanet:363300 obsolete genetic intractable diarrhea of infancy +MONDO:0009642 orofaciodigital syndrome type II MONDO:0019589 Orphanet:2751 Orphanet:90642 obsolete syndromic genetic hearing loss +MONDO:0009642 orofaciodigital syndrome type II MONDO:0035863 Orphanet:2751 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0009642 orofaciodigital syndrome type II MONDO:8000032 Orphanet:2751 Orphanet:377789 obsolete malformation syndrome +MONDO:0009650 mucolipidosis type II MONDO:0035863 Orphanet:576 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0009652 GNPTG-mucolipidosis MONDO:8000031 Orphanet:423470 Orphanet:557494 obsolete subtype of a disorder +MONDO:0009653 mucolipidosis type IV MONDO:0016397 Orphanet:578 Orphanet:225681 obsolete lysosomal disease with epilepsy +MONDO:0009653 mucolipidosis type IV MONDO:0020253 Orphanet:578 Orphanet:98683 obsolete syndrome with a symptomatic strabismus +MONDO:0009653 mucolipidosis type IV MONDO:0034953 Orphanet:578 Orphanet:519325 obsolete syndromic inherited retinal disorder +MONDO:0009653 mucolipidosis type IV MONDO:0035862 Orphanet:578 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome +MONDO:0009655 mucopolysaccharidosis type 3A MONDO:8000031 Orphanet:79269 Orphanet:557494 obsolete subtype of a disorder +MONDO:0009656 mucopolysaccharidosis type 3B MONDO:8000031 Orphanet:79270 Orphanet:557494 obsolete subtype of a disorder +MONDO:0009657 mucopolysaccharidosis type 3C MONDO:8000031 Orphanet:79271 Orphanet:557494 obsolete subtype of a disorder +MONDO:0009658 mucopolysaccharidosis type 3D MONDO:8000031 Orphanet:79272 Orphanet:557494 obsolete subtype of a disorder +MONDO:0009659 mucopolysaccharidosis type 4A MONDO:8000031 Orphanet:309297 Orphanet:557494 obsolete subtype of a disorder +MONDO:0009660 mucopolysaccharidosis type 4B MONDO:8000031 Orphanet:309310 Orphanet:557494 obsolete subtype of a disorder +MONDO:0009662 mucopolysaccharidosis type 7 MONDO:0035862 Orphanet:584 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome +MONDO:0009664 mulibrey nanism MONDO:0015329 Orphanet:2576 Orphanet:139021 obsolete malformation syndrome with short stature +MONDO:0009664 mulibrey nanism MONDO:0026187 Orphanet:2576 Orphanet:183570 obsolete genetic malformation syndrome with short stature +MONDO:0009664 mulibrey nanism MONDO:8000032 Orphanet:2576 Orphanet:377789 obsolete malformation syndrome +MONDO:0009665 biotinidase deficiency MONDO:0016133 Orphanet:79241 Orphanet:207018 obsolete rare hereditary metabolic disease with peripheral neuropathy +MONDO:0009665 biotinidase deficiency MONDO:0017760 Orphanet:79241 Orphanet:309833 obsolete disorder of other vitamins and cofactors metabolism and transport +MONDO:0009668 lethal multiple pterygium syndrome MONDO:0018731 Orphanet:33108 Orphanet:459787 obsolete lethal multiple congenital anomalies/dysmorphic syndrome +MONDO:0009668 lethal multiple pterygium syndrome MONDO:8000032 Orphanet:33108 Orphanet:377789 obsolete malformation syndrome +MONDO:0009669 spinal muscular atrophy, type 1 MONDO:8000031 Orphanet:83330 Orphanet:557494 obsolete subtype of a disorder +MONDO:0009670 lethal congenital contracture syndrome 1 MONDO:0015221 Orphanet:1486 Orphanet:108993 obsolete non-syndromic respiratory or mediastinal malformation +MONDO:0009670 lethal congenital contracture syndrome 1 MONDO:0015222 Orphanet:1486 Orphanet:108995 obsolete syndromic respiratory or mediastinal malformation +MONDO:0009670 lethal congenital contracture syndrome 1 MONDO:0043008 Orphanet:1486 Orphanet:330206 obsolete genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability +MONDO:0009670 lethal congenital contracture syndrome 1 MONDO:8000032 Orphanet:1486 Orphanet:377789 obsolete malformation syndrome +MONDO:0009671 intellectual disability-myopathy-short stature-endocrine defect syndrome MONDO:0035862 Orphanet:3068 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome +MONDO:0009672 spinal muscular atrophy, type III MONDO:8000031 Orphanet:83419 Orphanet:557494 obsolete subtype of a disorder +MONDO:0009673 spinal muscular atrophy, type II MONDO:8000031 Orphanet:83418 Orphanet:557494 obsolete subtype of a disorder +MONDO:0009675 autosomal recessive limb-girdle muscular dystrophy type 2A MONDO:0016152 Orphanet:267 Orphanet:207104 obsolete qualitative or quantitative defects of calpain +MONDO:0009677 autosomal recessive limb-girdle muscular dystrophy type 2C MONDO:0016334 Orphanet:353 Orphanet:217610 obsolete neuromuscular disease with dilated cardiomyopathy +MONDO:0009678 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 MONDO:0016157 Orphanet:272 Orphanet:207122 obsolete qualitative or quantitative defects of fukutin +MONDO:0009678 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 MONDO:0017745 Orphanet:272 Orphanet:309469 obsolete disorder of O-mannosylglycan synthesis +MONDO:0009678 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 MONDO:0018132 Orphanet:272 Orphanet:352687 obsolete congenital muscular alpha-dystroglycanopathy with brain and eye anomalies +MONDO:0009678 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 MONDO:0018287 Orphanet:272 Orphanet:371071 obsolete congenital disorder of glycosylation with epilepsy as a major feature +MONDO:0009678 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 MONDO:0018296 Orphanet:272 Orphanet:371235 obsolete congenital disorder of glycosylation with developmental anomaly +MONDO:0009678 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 MONDO:0020222 Orphanet:272 Orphanet:98638 obsolete rare disease with glaucoma as a major feature +MONDO:0009678 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 MONDO:0020228 Orphanet:272 Orphanet:98644 obsolete cataract associated with a metabolic disease +MONDO:0009678 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 MONDO:0020253 Orphanet:272 Orphanet:98683 obsolete syndrome with a symptomatic strabismus +MONDO:0009678 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 MONDO:8000032 Orphanet:272 Orphanet:377789 obsolete malformation syndrome +MONDO:0009680 congenital muscular dystrophy-infantile cataract-hypogonadism syndrome MONDO:0020225 Orphanet:1875 Orphanet:98641 obsolete syndromic cataract +MONDO:0009685 Miyoshi myopathy MONDO:0016109 Orphanet:45448 Orphanet:206653 obsolete autosomal recessive distal myopathy +MONDO:0009688 myasthenia gravis MONDO:0018743 Orphanet:589 Orphanet:464764 obsolete immune-mediated acquired neuromuscular junction disease +MONDO:0009693 plasma cell myeloma MONDO:0016180 Orphanet:29073 Orphanet:209016 obsolete hematological disease associated with an acquired peripheral neuropathy +MONDO:0009696 juvenile myoclonic epilepsy MONDO:0017654 Orphanet:307 Orphanet:306759 obsolete non progressive epilepsy and/or ataxia with myoclonus as a major feature +MONDO:0009698 Unverricht-Lundborg syndrome MONDO:0035862 Orphanet:308 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome +MONDO:0009698 Unverricht-Lundborg syndrome MONDO:8000032 Orphanet:308 Orphanet:377789 obsolete malformation syndrome +MONDO:0009704 carnitine palmitoyl transferase II deficiency, myopathic form MONDO:8000031 Orphanet:228302 Orphanet:557494 obsolete subtype of a disorder +MONDO:0009706 hereditary myopathy with lactic acidosis due to ISCU deficiency MONDO:0016804 Orphanet:43115 Orphanet:254843 obsolete exercise intolerance with lactic acidosis +MONDO:0009708 myopathy, myosin storage, autosomal recessive MONDO:8000031 Orphanet:636970 Orphanet:557494 obsolete subtype of a disorder +MONDO:0009710 Thomsen and Becker disease MONDO:0016121 Orphanet:614 Orphanet:206973 obsolete congenital myotonia +MONDO:0009712 congenital multicore myopathy with external ophthalmoplegia MONDO:8000031 Orphanet:98905 Orphanet:557494 obsolete subtype of a disorder +MONDO:0009714 myosclerosis MONDO:0016110 Orphanet:289380 Orphanet:206656 obsolete non-dystrophic myopathy +MONDO:0009716 Richieri Costa-da Silva syndrome MONDO:0016121 Orphanet:3101 Orphanet:206973 obsolete congenital myotonia +MONDO:0009716 Richieri Costa-da Silva syndrome MONDO:0035863 Orphanet:3101 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0009716 Richieri Costa-da Silva syndrome MONDO:8000032 Orphanet:3101 Orphanet:377789 obsolete malformation syndrome +MONDO:0009717 Schwartz-Jampel syndrome MONDO:0016121 Orphanet:800 Orphanet:206973 obsolete congenital myotonia +MONDO:0009717 Schwartz-Jampel syndrome MONDO:0019689 Orphanet:800 Orphanet:93424 obsolete perlecan-related bone disorder +MONDO:0009717 Schwartz-Jampel syndrome MONDO:0020225 Orphanet:800 Orphanet:98641 obsolete syndromic cataract +MONDO:0009719 familial atrial myxoma MONDO:0015673 Orphanet:615 Orphanet:168194 obsolete rare cardiac tumor +MONDO:0009719 familial atrial myxoma MONDO:0017129 Orphanet:615 Orphanet:271841 obsolete inherited cardiac tumor +MONDO:0009720 Keipert syndrome MONDO:0035863 Orphanet:2662 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0009720 Keipert syndrome MONDO:0043008 Orphanet:2662 Orphanet:330206 obsolete genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability +MONDO:0009720 Keipert syndrome MONDO:8000032 Orphanet:2662 Orphanet:377789 obsolete malformation syndrome +MONDO:0009721 Nathalie syndrome MONDO:0016337 Orphanet:2663 Orphanet:217619 obsolete syndrome associated with dilated cardiomyopathy +MONDO:0009721 Nathalie syndrome MONDO:0019589 Orphanet:2663 Orphanet:90642 obsolete syndromic genetic hearing loss +MONDO:0009721 Nathalie syndrome MONDO:0020225 Orphanet:2663 Orphanet:98641 obsolete syndromic cataract +MONDO:0009721 Nathalie syndrome MONDO:8000032 Orphanet:2663 Orphanet:377789 obsolete malformation syndrome +MONDO:0009722 Bailey-Bloch congenital myopathy MONDO:0015335 Orphanet:168572 Orphanet:139039 obsolete Mendelian syndromes with cleft lip/palate +MONDO:0009722 Bailey-Bloch congenital myopathy MONDO:0018753 Orphanet:168572 Orphanet:466658 obsolete rare disease with malignant hyperthermia +MONDO:0009722 Bailey-Bloch congenital myopathy MONDO:8000032 Orphanet:168572 Orphanet:377789 obsolete malformation syndrome +MONDO:0009723 Leigh syndrome MONDO:0016402 Orphanet:506 Orphanet:225700 obsolete mitochondrial disease with epilepsy +MONDO:0009723 Leigh syndrome MONDO:0016403 Orphanet:506 Orphanet:225703 obsolete mitochondrial disease with peripheral neuropathy +MONDO:0009723 Leigh syndrome MONDO:0016578 Orphanet:506 Orphanet:2443 obsolete mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies +MONDO:0009723 Leigh syndrome MONDO:0019058 Orphanet:506 Orphanet:68385 obsolete neurometabolic disease +MONDO:0009726 proteosome-associated autoinflammatory syndrome MONDO:0017370 Orphanet:324977 Orphanet:290842 obsolete autoinflammatory syndrome with skin involvement +MONDO:0009726 proteosome-associated autoinflammatory syndrome MONDO:0018782 Orphanet:324977 Orphanet:477647 obsolete type 1 interferonopathy +MONDO:0009727 atelosteogenesis type II MONDO:0019688 Orphanet:56304 Orphanet:93423 obsolete sulfation-related bone disorder +MONDO:0009727 atelosteogenesis type II MONDO:0019697 Orphanet:56304 Orphanet:93438 obsolete mesomelic and rhizo-mesomelic dysplasia +MONDO:0009727 atelosteogenesis type II MONDO:0024149 Orphanet:56304 Orphanet:138055 obsolete Pierre Robin syndrome associated with bone disease +MONDO:0009727 atelosteogenesis type II MONDO:0035863 Orphanet:56304 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0009727 atelosteogenesis type II MONDO:8000032 Orphanet:56304 Orphanet:377789 obsolete malformation syndrome +MONDO:0009728 nephronophthisis 1 MONDO:8000031 Orphanet:93592 Orphanet:557494 obsolete subtype of a disorder +MONDO:0009729 nephropathy - deafness - hyperparathyroidism syndrome MONDO:0019589 Orphanet:2668 Orphanet:90642 obsolete syndromic genetic hearing loss +MONDO:0009729 nephropathy - deafness - hyperparathyroidism syndrome MONDO:8000032 Orphanet:2668 Orphanet:377789 obsolete malformation syndrome +MONDO:0009731 nephrosis-deafness-urinary tract-digital malformations syndrome MONDO:0015620 Orphanet:2669 Orphanet:165707 obsolete syndromic urogenital tract malformation +MONDO:0009731 nephrosis-deafness-urinary tract-digital malformations syndrome MONDO:0019589 Orphanet:2669 Orphanet:90642 obsolete syndromic genetic hearing loss +MONDO:0009731 nephrosis-deafness-urinary tract-digital malformations syndrome MONDO:0019721 Orphanet:2669 Orphanet:93547 obsolete syndromic renal or urinary tract malformation +MONDO:0009731 nephrosis-deafness-urinary tract-digital malformations syndrome MONDO:0043008 Orphanet:2669 Orphanet:330206 obsolete genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability +MONDO:0009731 nephrosis-deafness-urinary tract-digital malformations syndrome MONDO:8000032 Orphanet:2669 Orphanet:377789 obsolete malformation syndrome +MONDO:0009735 Netherton syndrome MONDO:0017271 Orphanet:634 Orphanet:281222 obsolete autosomal ichthyosis syndrome with prominent hair abnormalities +MONDO:0009736 Neu-Laxova syndrome 1 MONDO:8000031 Orphanet:583607 Orphanet:557494 obsolete subtype of a disorder +MONDO:0009737 galactosialidosis MONDO:0019058 Orphanet:351 Orphanet:68385 obsolete neurometabolic disease +MONDO:0009737 galactosialidosis MONDO:0034953 Orphanet:351 Orphanet:519325 obsolete syndromic inherited retinal disorder +MONDO:0009738 sialidosis type 2 MONDO:0019743 Orphanet:87876 Orphanet:93593 obsolete nephropathy secondary to a storage or other metabolic disease +MONDO:0009738 sialidosis type 2 MONDO:0035863 Orphanet:87876 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0009740 neurofaciodigitorenal syndrome MONDO:0019721 Orphanet:2673 Orphanet:93547 obsolete syndromic renal or urinary tract malformation +MONDO:0009740 neurofaciodigitorenal syndrome MONDO:0035863 Orphanet:2673 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0009740 neurofaciodigitorenal syndrome MONDO:8000032 Orphanet:2673 Orphanet:377789 obsolete malformation syndrome +MONDO:0009742 neuroectodermal melanolysosomal disease MONDO:0015331 Orphanet:33445 Orphanet:139027 obsolete malformation syndrome with skin/mucosae involvement +MONDO:0009742 neuroectodermal melanolysosomal disease MONDO:0015651 Orphanet:33445 Orphanet:166466 obsolete neurocutaneous syndrome with epilepsy +MONDO:0009742 neuroectodermal melanolysosomal disease MONDO:0020253 Orphanet:33445 Orphanet:98683 obsolete syndrome with a symptomatic strabismus +MONDO:0009742 neuroectodermal melanolysosomal disease MONDO:8000032 Orphanet:33445 Orphanet:377789 obsolete malformation syndrome +MONDO:0009746 hereditary sensory and autonomic neuropathy type 4 MONDO:0015366 Orphanet:642 Orphanet:140477 obsolete autosomal recessive hereditary sensory and autonomic neuropathy +MONDO:0009746 hereditary sensory and autonomic neuropathy type 4 MONDO:0035862 Orphanet:642 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome +MONDO:0009748 hereditary sensory and autonomic neuropathy with spastic paraplegia MONDO:0015089 Orphanet:139578 Orphanet:100981 obsolete autosomal recessive complex spastic paraplegia +MONDO:0009748 hereditary sensory and autonomic neuropathy with spastic paraplegia MONDO:0015366 Orphanet:139578 Orphanet:140477 obsolete autosomal recessive hereditary sensory and autonomic neuropathy +MONDO:0009749 giant axonal neuropathy 1 MONDO:0035862 Orphanet:643 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome +MONDO:0009756 Niemann-Pick disease type A MONDO:0018299 Orphanet:77292 Orphanet:371442 obsolete sphingolipidosis with epilepsy +MONDO:0009756 Niemann-Pick disease type A MONDO:0019058 Orphanet:77292 Orphanet:68385 obsolete neurometabolic disease +MONDO:0009756 Niemann-Pick disease type A MONDO:0034953 Orphanet:77292 Orphanet:519325 obsolete syndromic inherited retinal disorder +MONDO:0009756 Niemann-Pick disease type A MONDO:0035862 Orphanet:77292 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome +MONDO:0009760 Norman-Roberts syndrome MONDO:8000031 Orphanet:89844 Orphanet:557494 obsolete subtype of a disorder +MONDO:0009764 ocular motor apraxia, Cogan type MONDO:0020258 Orphanet:1125 Orphanet:98688 obsolete oculomotor apraxia or related oculomotor disease +MONDO:0009766 oculocerebral hypopigmentation syndrome of Preus MONDO:0015336 Orphanet:2720 Orphanet:139042 obsolete malformation syndrome with odontal and/or periodontal component +MONDO:0009766 oculocerebral hypopigmentation syndrome of Preus MONDO:0020225 Orphanet:2720 Orphanet:98641 obsolete syndromic cataract +MONDO:0009766 oculocerebral hypopigmentation syndrome of Preus MONDO:0026190 Orphanet:2720 Orphanet:183580 obsolete genetic malformation syndrome with odontal and/or periodontal component +MONDO:0009766 oculocerebral hypopigmentation syndrome of Preus MONDO:0035863 Orphanet:2720 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0009766 oculocerebral hypopigmentation syndrome of Preus MONDO:8000032 Orphanet:2720 Orphanet:377789 obsolete malformation syndrome +MONDO:0009767 oculocerebral hypopigmentation syndrome, Cross type MONDO:0015336 Orphanet:2719 Orphanet:139042 obsolete malformation syndrome with odontal and/or periodontal component +MONDO:0009767 oculocerebral hypopigmentation syndrome, Cross type MONDO:0020225 Orphanet:2719 Orphanet:98641 obsolete syndromic cataract +MONDO:0009767 oculocerebral hypopigmentation syndrome, Cross type MONDO:0026190 Orphanet:2719 Orphanet:183580 obsolete genetic malformation syndrome with odontal and/or periodontal component +MONDO:0009767 oculocerebral hypopigmentation syndrome, Cross type MONDO:0035863 Orphanet:2719 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0009767 oculocerebral hypopigmentation syndrome, Cross type MONDO:8000032 Orphanet:2719 Orphanet:377789 obsolete malformation syndrome +MONDO:0009769 oculo-palato-cerebral syndrome MONDO:0015329 Orphanet:2714 Orphanet:139021 obsolete malformation syndrome with short stature +MONDO:0009769 oculo-palato-cerebral syndrome MONDO:0015335 Orphanet:2714 Orphanet:139039 obsolete Mendelian syndromes with cleft lip/palate +MONDO:0009769 oculo-palato-cerebral syndrome MONDO:0020225 Orphanet:2714 Orphanet:98641 obsolete syndromic cataract +MONDO:0009769 oculo-palato-cerebral syndrome MONDO:0026187 Orphanet:2714 Orphanet:183570 obsolete genetic malformation syndrome with short stature +MONDO:0009769 oculo-palato-cerebral syndrome MONDO:0035863 Orphanet:2714 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0009769 oculo-palato-cerebral syndrome MONDO:8000032 Orphanet:2714 Orphanet:377789 obsolete malformation syndrome +MONDO:0009771 oculotrichodysplasia MONDO:0020240 Orphanet:2718 Orphanet:98661 obsolete syndromic retinitis pigmentosa +MONDO:0009771 oculotrichodysplasia MONDO:8000032 Orphanet:2718 Orphanet:377789 obsolete malformation syndrome +MONDO:0009772 oculorenocerebellar syndrome MONDO:0020253 Orphanet:2715 Orphanet:98683 obsolete syndrome with a symptomatic strabismus +MONDO:0009772 oculorenocerebellar syndrome MONDO:0034953 Orphanet:2715 Orphanet:519325 obsolete syndromic inherited retinal disorder +MONDO:0009772 oculorenocerebellar syndrome MONDO:0035863 Orphanet:2715 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0009772 oculorenocerebellar syndrome MONDO:8000032 Orphanet:2715 Orphanet:377789 obsolete malformation syndrome +MONDO:0009773 odonto-onycho-dermal dysplasia MONDO:0015336 Orphanet:2721 Orphanet:139042 obsolete malformation syndrome with odontal and/or periodontal component +MONDO:0009773 odonto-onycho-dermal dysplasia MONDO:0017671 Orphanet:2721 Orphanet:307804 obsolete autosomal recessive disease with diffuse palmoplantar keratoderma as a major feature +MONDO:0009773 odonto-onycho-dermal dysplasia MONDO:0026190 Orphanet:2721 Orphanet:183580 obsolete genetic malformation syndrome with odontal and/or periodontal component +MONDO:0009774 cloacal exstrophy MONDO:0015246 Orphanet:93929 Orphanet:117573 obsolete syndromic anorectal malformation +MONDO:0009774 cloacal exstrophy MONDO:8000031 Orphanet:93929 Orphanet:557494 obsolete subtype of a disorder +MONDO:0009777 Oliver syndrome MONDO:0017434 Orphanet:2920 Orphanet:294959 obsolete syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy +MONDO:0009777 Oliver syndrome MONDO:0035863 Orphanet:2920 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0009777 Oliver syndrome MONDO:8000032 Orphanet:2920 Orphanet:377789 obsolete malformation syndrome +MONDO:0009779 autosomal recessive omodysplasia MONDO:8000031 Orphanet:93329 Orphanet:557494 obsolete subtype of a disorder +MONDO:0009780 lethal omphalocele-cleft palate syndrome MONDO:0015216 Orphanet:2736 Orphanet:108979 obsolete syndromic diaphragmatic or abdominal wall malformation +MONDO:0009780 lethal omphalocele-cleft palate syndrome MONDO:0015335 Orphanet:2736 Orphanet:139039 obsolete Mendelian syndromes with cleft lip/palate +MONDO:0009780 lethal omphalocele-cleft palate syndrome MONDO:0035863 Orphanet:2736 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0009780 lethal omphalocele-cleft palate syndrome MONDO:8000032 Orphanet:2736 Orphanet:377789 obsolete malformation syndrome +MONDO:0009787 3-methylglutaconic aciduria type 3 MONDO:0018609 Orphanet:67047 Orphanet:441434 obsolete syndromic hereditary optic neuropathy +MONDO:0009792 ichthyosis-oral and digital anomalies syndrome MONDO:0015331 Orphanet:2272 Orphanet:139027 obsolete malformation syndrome with skin/mucosae involvement +MONDO:0009792 ichthyosis-oral and digital anomalies syndrome MONDO:0029102 Orphanet:2272 Orphanet:281244 obsolete autosomal ichthyosis syndrome with other associated signs +MONDO:0009792 ichthyosis-oral and digital anomalies syndrome MONDO:0043008 Orphanet:2272 Orphanet:330206 obsolete genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability +MONDO:0009792 ichthyosis-oral and digital anomalies syndrome MONDO:8000032 Orphanet:2272 Orphanet:377789 obsolete malformation syndrome +MONDO:0009793 orofaciodigital syndrome III MONDO:0019589 Orphanet:2752 Orphanet:90642 obsolete syndromic genetic hearing loss +MONDO:0009793 orofaciodigital syndrome III MONDO:0035863 Orphanet:2752 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0009793 orofaciodigital syndrome III MONDO:8000032 Orphanet:2752 Orphanet:377789 obsolete malformation syndrome +MONDO:0009794 orofaciodigital syndrome IV MONDO:0019589 Orphanet:2753 Orphanet:90642 obsolete syndromic genetic hearing loss +MONDO:0009794 orofaciodigital syndrome IV MONDO:0035863 Orphanet:2753 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0009794 orofaciodigital syndrome IV MONDO:8000032 Orphanet:2753 Orphanet:377789 obsolete malformation syndrome +MONDO:0009795 orofaciodigital syndrome IX MONDO:0034953 Orphanet:141007 Orphanet:519325 obsolete syndromic inherited retinal disorder +MONDO:0009795 orofaciodigital syndrome IX MONDO:8000032 Orphanet:141007 Orphanet:377789 obsolete malformation syndrome +MONDO:0009796 ornithine aminotransferase deficiency MONDO:0016133 Orphanet:414 Orphanet:207018 obsolete rare hereditary metabolic disease with peripheral neuropathy +MONDO:0009796 ornithine aminotransferase deficiency MONDO:0020228 Orphanet:414 Orphanet:98644 obsolete cataract associated with a metabolic disease +MONDO:0009797 orotic aciduria MONDO:0035862 Orphanet:30 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome +MONDO:0009798 Primrose syndrome MONDO:0020225 Orphanet:3042 Orphanet:98641 obsolete syndromic cataract +MONDO:0009798 Primrose syndrome MONDO:0035863 Orphanet:3042 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0009798 Primrose syndrome MONDO:8000032 Orphanet:3042 Orphanet:377789 obsolete malformation syndrome +MONDO:0009801 familial osteodysplasia, Anderson type MONDO:0800085 Orphanet:2769 Orphanet:93453 obsolete dysostosis with predominant craniofacial involvement +MONDO:0009801 familial osteodysplasia, Anderson type MONDO:8000032 Orphanet:2769 Orphanet:377789 obsolete malformation syndrome +MONDO:0009803 congenital osteogenesis imperfecta-microcephaly-cataracts syndrome MONDO:0019704 Orphanet:2772 Orphanet:93446 obsolete primary bone dysplasia with decreased bone density +MONDO:0009803 congenital osteogenesis imperfecta-microcephaly-cataracts syndrome MONDO:0020225 Orphanet:2772 Orphanet:98641 obsolete syndromic cataract +MONDO:0009803 congenital osteogenesis imperfecta-microcephaly-cataracts syndrome MONDO:8000032 Orphanet:2772 Orphanet:377789 obsolete malformation syndrome +MONDO:0009804 osteogenesis imperfecta type 3 MONDO:0015669 Orphanet:216812 Orphanet:167762 obsolete rare disease with dentinogenesis imperfecta +MONDO:0009804 osteogenesis imperfecta type 3 MONDO:8000031 Orphanet:216812 Orphanet:557494 obsolete subtype of a disorder +MONDO:0009810 autosomal recessive distal osteolysis syndrome MONDO:0035863 Orphanet:2776 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0009810 autosomal recessive distal osteolysis syndrome MONDO:8000032 Orphanet:2776 Orphanet:377789 obsolete malformation syndrome +MONDO:0009813 chronic recurrent multifocal osteomyelitis MONDO:0017370 Orphanet:324964 Orphanet:290842 obsolete autoinflammatory syndrome with skin involvement +MONDO:0009813 chronic recurrent multifocal osteomyelitis MONDO:0017954 Orphanet:324964 Orphanet:324927 obsolete pyogenic autoinflammatory syndrome +MONDO:0009813 chronic recurrent multifocal osteomyelitis MONDO:0957404 Orphanet:324964 Orphanet:324942 obsolete pyogenic autoinflammatory syndrome of childhood +MONDO:0009814 osteopenia-intellectual disability-sparse hair syndrome MONDO:0019704 Orphanet:2324 Orphanet:93446 obsolete primary bone dysplasia with decreased bone density +MONDO:0009814 osteopenia-intellectual disability-sparse hair syndrome MONDO:0035863 Orphanet:2324 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0009814 osteopenia-intellectual disability-sparse hair syndrome MONDO:8000032 Orphanet:2324 Orphanet:377789 obsolete malformation syndrome +MONDO:0009818 autosomal recessive osteopetrosis 3 MONDO:0017828 Orphanet:2785 Orphanet:314822 obsolete primary renal tubular acidosis +MONDO:0009818 autosomal recessive osteopetrosis 3 MONDO:0035862 Orphanet:2785 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome +MONDO:0009820 osteoporosis-pseudoglioma syndrome MONDO:0019704 Orphanet:2788 Orphanet:93446 obsolete primary bone dysplasia with decreased bone density +MONDO:0009820 osteoporosis-pseudoglioma syndrome MONDO:0020225 Orphanet:2788 Orphanet:98641 obsolete syndromic cataract +MONDO:0009820 osteoporosis-pseudoglioma syndrome MONDO:0034954 Orphanet:2788 Orphanet:519327 obsolete syndromic vitreoretinopathy +MONDO:0009820 osteoporosis-pseudoglioma syndrome MONDO:0035863 Orphanet:2788 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0009821 lethal osteosclerotic bone dysplasia MONDO:8000032 Orphanet:1832 Orphanet:377789 obsolete malformation syndrome +MONDO:0009822 otoonychoperoneal syndrome MONDO:0018235 Orphanet:2793 Orphanet:364568 obsolete dysostosis with limb anomaly as a major feature +MONDO:0009822 otoonychoperoneal syndrome MONDO:0018455 Orphanet:2793 Orphanet:404571 obsolete dysostosis of genetic origin with limb anomaly as a major feature +MONDO:0009822 otoonychoperoneal syndrome MONDO:0019285 Orphanet:2793 Orphanet:79370 obsolete syndromic nail anomaly +MONDO:0009822 otoonychoperoneal syndrome MONDO:0043008 Orphanet:2793 Orphanet:330206 obsolete genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability +MONDO:0009822 otoonychoperoneal syndrome MONDO:8000032 Orphanet:2793 Orphanet:377789 obsolete malformation syndrome +MONDO:0009823 primary hyperoxaluria type 1 MONDO:0017753 Orphanet:93598 Orphanet:309810 obsolete disorder of peroxisomal alpha-, beta- and omega-oxidation +MONDO:0009823 primary hyperoxaluria type 1 MONDO:0034953 Orphanet:93598 Orphanet:519325 obsolete syndromic inherited retinal disorder +MONDO:0009823 primary hyperoxaluria type 1 MONDO:8000031 Orphanet:93598 Orphanet:557494 obsolete subtype of a disorder +MONDO:0009824 primary hyperoxaluria type 2 MONDO:8000031 Orphanet:93599 Orphanet:557494 obsolete subtype of a disorder +MONDO:0009830 parkinsonian-pyramidal syndrome MONDO:0017635 Orphanet:171695 Orphanet:306666 obsolete parkinsonian syndrome due to neurodegenerative disease +MONDO:0009830 parkinsonian-pyramidal syndrome MONDO:0017661 Orphanet:171695 Orphanet:307055 obsolete rare parkinsonian syndrome due to genetic neurodegenerative disease +MONDO:0009832 pancreatic agenesis MONDO:0015213 Orphanet:2805 Orphanet:108971 obsolete non-syndromic visceral malformation +MONDO:0009832 pancreatic agenesis MONDO:8000030 Orphanet:2805 Orphanet:377791 obsolete morphological anomaly +MONDO:0009833 Shwachman-Diamond syndrome MONDO:0015112 Orphanet:811 Orphanet:101937 obsolete rare pancreatic disease +MONDO:0009833 Shwachman-Diamond syndrome MONDO:0015618 Orphanet:811 Orphanet:165661 obsolete genetic pancreatic disease +MONDO:0009833 Shwachman-Diamond syndrome MONDO:0015945 Orphanet:811 Orphanet:183422 obsolete polymalformative genetic syndrome with increased risk of developing cancer +MONDO:0009833 Shwachman-Diamond syndrome MONDO:0019693 Orphanet:811 Orphanet:93430 obsolete multiple metaphyseal dysplasia +MONDO:0009833 Shwachman-Diamond syndrome MONDO:0035863 Orphanet:811 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0009835 subacute sclerosing panencephalitis MONDO:0015659 Orphanet:2806 Orphanet:166490 obsolete infectious disease with epilepsy +MONDO:0009835 subacute sclerosing panencephalitis MONDO:0020069 Orphanet:2806 Orphanet:98255 obsolete chronic encephalitis +MONDO:0009838 Parana hard-skin syndrome MONDO:0019299 Orphanet:2812 Orphanet:79385 obsolete unclassified genetic skin disorder +MONDO:0009839 progressive supranuclear palsy-parkinsonism syndrome MONDO:0017635 Orphanet:240085 Orphanet:306666 obsolete parkinsonian syndrome due to neurodegenerative disease +MONDO:0009841 PEHO syndrome MONDO:0015918 Orphanet:2836 Orphanet:182070 obsolete rare neurodegenerative disease +MONDO:0009841 PEHO syndrome MONDO:0018609 Orphanet:2836 Orphanet:441434 obsolete syndromic hereditary optic neuropathy +MONDO:0009841 PEHO syndrome MONDO:0035471 Orphanet:2836 Orphanet:568047 obsolete disorder with multisystemic involvement and primary lymphedema +MONDO:0009843 hypomyelinating leukodystrophy 3 MONDO:8000031 Orphanet:280293 Orphanet:557494 obsolete subtype of a disorder +MONDO:0009845 pelviscapular dysplasia MONDO:0017432 Orphanet:93333 Orphanet:294955 obsolete syndrome with limb reduction defects +MONDO:0009845 pelviscapular dysplasia MONDO:8000032 Orphanet:93333 Orphanet:377789 obsolete malformation syndrome +MONDO:0009849 hyperimmunoglobulinemia D with periodic fever MONDO:0017369 Orphanet:343 Orphanet:290839 obsolete autoinflammatory syndrome with immune deficiency +MONDO:0009849 hyperimmunoglobulinemia D with periodic fever MONDO:8000031 Orphanet:343 Orphanet:557494 obsolete subtype of a disorder +MONDO:0009852 hereditary intrinsic factor deficiency MONDO:0020109 Orphanet:332 Orphanet:98396 obsolete constitutional megaloblastic anemia due to vitamin B12 metabolism disorder +MONDO:0009853 Imerslund-Grasbeck syndrome MONDO:0015179 Orphanet:35858 Orphanet:104004 obsolete intestinal disease due to vitamin absorption anomaly +MONDO:0009853 Imerslund-Grasbeck syndrome MONDO:0019743 Orphanet:35858 Orphanet:93593 obsolete nephropathy secondary to a storage or other metabolic disease +MONDO:0009853 Imerslund-Grasbeck syndrome MONDO:0020109 Orphanet:35858 Orphanet:98396 obsolete constitutional megaloblastic anemia due to vitamin B12 metabolism disorder +MONDO:0009856 Peters plus syndrome MONDO:0018284 Orphanet:709 Orphanet:371047 obsolete congenital disorder of glycosylation with neurological involvement +MONDO:0009856 Peters plus syndrome MONDO:0018290 Orphanet:709 Orphanet:371183 obsolete congenital disorder of glycosylation with cardiac malformation as a major feature +MONDO:0009856 Peters plus syndrome MONDO:0020222 Orphanet:709 Orphanet:98638 obsolete rare disease with glaucoma as a major feature +MONDO:0009856 Peters plus syndrome MONDO:0020228 Orphanet:709 Orphanet:98644 obsolete cataract associated with a metabolic disease +MONDO:0009856 Peters plus syndrome MONDO:0035863 Orphanet:709 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0009856 Peters plus syndrome MONDO:8000032 Orphanet:709 Orphanet:377789 obsolete malformation syndrome +MONDO:0009857 persistent Mullerian duct syndrome MONDO:0017969 Orphanet:2856 Orphanet:325351 obsolete 46,XY disorder of sex development of endocrine origin +MONDO:0009857 persistent Mullerian duct syndrome MONDO:0018396 Orphanet:2856 Orphanet:399824 obsolete rare male fertility disorder with obstructive azoospermia +MONDO:0009857 persistent Mullerian duct syndrome MONDO:0018409 Orphanet:2856 Orphanet:400003 obsolete rare genetic disorder with obstructive azoospermia +MONDO:0009857 persistent Mullerian duct syndrome MONDO:8000032 Orphanet:2856 Orphanet:377789 obsolete malformation syndrome +MONDO:0009858 Pfeiffer-Palm-Teller syndrome MONDO:0035863 Orphanet:2871 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0009858 Pfeiffer-Palm-Teller syndrome MONDO:8000032 Orphanet:2871 Orphanet:377789 obsolete malformation syndrome +MONDO:0009859 PHAVER syndrome MONDO:0043008 Orphanet:2876 Orphanet:330206 obsolete genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability +MONDO:0009859 PHAVER syndrome MONDO:8000032 Orphanet:2876 Orphanet:377789 obsolete malformation syndrome +MONDO:0009861 phenylketonuria MONDO:0016399 Orphanet:716 Orphanet:225689 obsolete amino acid or protein metabolism disease with epilepsy +MONDO:0009861 phenylketonuria MONDO:0019058 Orphanet:716 Orphanet:68385 obsolete neurometabolic disease +MONDO:0009862 dihydropteridine reductase deficiency MONDO:8000031 Orphanet:226 Orphanet:557494 obsolete subtype of a disorder +MONDO:0009863 BH4-deficient hyperphenylalaninemia A MONDO:8000031 Orphanet:13 Orphanet:557494 obsolete subtype of a disorder +MONDO:0009865 glycogen storage disease due to phosphoglycerate mutase deficiency MONDO:0016118 Orphanet:97234 Orphanet:206959 obsolete muscular glycogenosis +MONDO:0009867 lethal congenital glycogen storage disease of heart MONDO:0016325 Orphanet:439854 Orphanet:217572 obsolete glycogen storage disease with hypertrophic cardiomyopathy +MONDO:0009868 glycogen storage disease IXb MONDO:0015115 Orphanet:79240 Orphanet:101940 obsolete rare genetic metabolic liver disease +MONDO:0009868 glycogen storage disease IXb MONDO:0016118 Orphanet:79240 Orphanet:206959 obsolete muscular glycogenosis +MONDO:0009868 glycogen storage disease IXb MONDO:0018251 Orphanet:79240 Orphanet:370 obsolete glycogen storage disease due to phosphorylase kinase deficiency +MONDO:0009869 isolated Pierre-Robin syndrome MONDO:0015501 Orphanet:718 Orphanet:156237 obsolete syndrome or malformation associated with head and neck malformations +MONDO:0009869 isolated Pierre-Robin syndrome MONDO:8000032 Orphanet:718 Orphanet:377789 obsolete malformation syndrome +MONDO:0009870 pili torti MONDO:0019281 Orphanet:2889 Orphanet:79366 obsolete isolated genetic hair shaft abnormality +MONDO:0009871 pili torti-developmental delay-neurological abnormalities syndrome MONDO:0019282 Orphanet:2891 Orphanet:79367 obsolete syndromic hair shaft abnormality +MONDO:0009871 pili torti-developmental delay-neurological abnormalities syndrome MONDO:8000032 Orphanet:2891 Orphanet:377789 obsolete malformation syndrome +MONDO:0009872 Bjornstad syndrome MONDO:0017718 Orphanet:123 Orphanet:309136 obsolete mitochondrial disorder due to a defect in assembly or maturation of the respiratory chain complexes +MONDO:0009872 Bjornstad syndrome MONDO:0019282 Orphanet:123 Orphanet:79367 obsolete syndromic hair shaft abnormality +MONDO:0009872 Bjornstad syndrome MONDO:0035862 Orphanet:123 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome +MONDO:0009873 pilodental dysplasia-refractive errors syndrome MONDO:0015336 Orphanet:2892 Orphanet:139042 obsolete malformation syndrome with odontal and/or periodontal component +MONDO:0009873 pilodental dysplasia-refractive errors syndrome MONDO:0026190 Orphanet:2892 Orphanet:183580 obsolete genetic malformation syndrome with odontal and/or periodontal component +MONDO:0009873 pilodental dysplasia-refractive errors syndrome MONDO:8000032 Orphanet:2892 Orphanet:377789 obsolete malformation syndrome +MONDO:0009874 Rabson-Mendenhall syndrome MONDO:0015885 Orphanet:769 Orphanet:181368 obsolete rare insulin-resistance syndrome +MONDO:0009874 Rabson-Mendenhall syndrome MONDO:8000032 Orphanet:769 Orphanet:377789 obsolete malformation syndrome +MONDO:0009876 isolated growth hormone deficiency type IA MONDO:8000031 Orphanet:231662 Orphanet:557494 obsolete subtype of a disorder +MONDO:0009879 short stature due to growth hormone qualitative anomaly MONDO:8000031 Orphanet:629 Orphanet:557494 obsolete subtype of a disorder +MONDO:0009880 short stature-pituitary and cerebellar defects-small sella turcica syndrome MONDO:0019827 Orphanet:85442 Orphanet:95495 obsolete disease associated with non-acquired combined pituitary hormone deficiency +MONDO:0009883 alpha-2-plasmin inhibitor deficiency MONDO:0019039 Orphanet:79 Orphanet:68334 obsolete rare hemorrhagic disorder due to a constitutional coagulation factors defect +MONDO:0009883 alpha-2-plasmin inhibitor deficiency MONDO:0027751 Orphanet:79 Orphanet:250811 obsolete serpinopathy with loss of serpin function +MONDO:0009885 Scott syndrome MONDO:0017142 Orphanet:806 Orphanet:275736 obsolete hemorrhagic disorder due to a qualitative platelet defect +MONDO:0009889 autosomal recessive polycystic kidney disease MONDO:0015114 Orphanet:731 Orphanet:101939 obsolete rare parenchymal liver disease +MONDO:0009889 autosomal recessive polycystic kidney disease MONDO:0015508 Orphanet:731 Orphanet:156604 obsolete hereditary parenchymatous liver disease +MONDO:0009889 autosomal recessive polycystic kidney disease MONDO:0018396 Orphanet:731 Orphanet:399824 obsolete rare male fertility disorder with obstructive azoospermia +MONDO:0009889 autosomal recessive polycystic kidney disease MONDO:0018409 Orphanet:731 Orphanet:400003 obsolete rare genetic disorder with obstructive azoospermia +MONDO:0009889 autosomal recessive polycystic kidney disease MONDO:0022409 Orphanet:731 Orphanet:156162 obsolete nephropathy-associated ciliopathy +MONDO:0009895 postaxial polydactyly-dental and vertebral anomalies syndrome MONDO:0015336 Orphanet:2916 Orphanet:139042 obsolete malformation syndrome with odontal and/or periodontal component +MONDO:0009895 postaxial polydactyly-dental and vertebral anomalies syndrome MONDO:0026190 Orphanet:2916 Orphanet:183580 obsolete genetic malformation syndrome with odontal and/or periodontal component +MONDO:0009895 postaxial polydactyly-dental and vertebral anomalies syndrome MONDO:8000032 Orphanet:2916 Orphanet:377789 obsolete malformation syndrome +MONDO:0009897 adult polyglucosan body disease MONDO:0016133 Orphanet:206583 Orphanet:207018 obsolete rare hereditary metabolic disease with peripheral neuropathy +MONDO:0009897 adult polyglucosan body disease MONDO:8000031 Orphanet:206583 Orphanet:557494 obsolete subtype of a disorder +MONDO:0009900 polysyndactyly-cardiac malformation syndrome MONDO:0043008 Orphanet:2934 Orphanet:330206 obsolete genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability +MONDO:0009900 polysyndactyly-cardiac malformation syndrome MONDO:8000032 Orphanet:2934 Orphanet:377789 obsolete malformation syndrome +MONDO:0009901 Bartsocas-Papas syndrome 1 MONDO:0018731 Orphanet:1234 Orphanet:459787 obsolete lethal multiple congenital anomalies/dysmorphic syndrome +MONDO:0009901 Bartsocas-Papas syndrome 1 MONDO:0020157 Orphanet:1234 Orphanet:98566 obsolete syndromic palpebral coloboma +MONDO:0009901 Bartsocas-Papas syndrome 1 MONDO:8000032 Orphanet:1234 Orphanet:377789 obsolete malformation syndrome +MONDO:0009902 cutaneous porphyria MONDO:0020104 Orphanet:79277 Orphanet:98369 obsolete rare constitutional hemolytic anemia due to an enzyme disorder +MONDO:0009903 postaxial acrofacial dysostosis MONDO:0015334 Orphanet:246 Orphanet:139036 obsolete branchial arch or oral-acral syndrome +MONDO:0009903 postaxial acrofacial dysostosis MONDO:0015501 Orphanet:246 Orphanet:156237 obsolete syndrome or malformation associated with head and neck malformations +MONDO:0009903 postaxial acrofacial dysostosis MONDO:0020157 Orphanet:246 Orphanet:98566 obsolete syndromic palpebral coloboma +MONDO:0009903 postaxial acrofacial dysostosis MONDO:0020162 Orphanet:246 Orphanet:98571 obsolete secondary ectropion +MONDO:0009903 postaxial acrofacial dysostosis MONDO:0026189 Orphanet:246 Orphanet:183576 obsolete genetic branchial arch or oral-acral syndrome +MONDO:0009903 postaxial acrofacial dysostosis MONDO:0043008 Orphanet:246 Orphanet:330206 obsolete genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability +MONDO:0009903 postaxial acrofacial dysostosis MONDO:8000032 Orphanet:246 Orphanet:377789 obsolete malformation syndrome +MONDO:0009904 Gitelman syndrome MONDO:0019744 Orphanet:358 Orphanet:93603 obsolete rare renal tubular disease +MONDO:0009905 urban-Rogers-Meyer syndrome MONDO:0035863 Orphanet:3409 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0009905 urban-Rogers-Meyer syndrome MONDO:8000032 Orphanet:3409 Orphanet:377789 obsolete malformation syndrome +MONDO:0009908 pterin-4 alpha-carbinolamine dehydratase 1 deficiency MONDO:8000031 Orphanet:1578 Orphanet:557494 obsolete subtype of a disorder +MONDO:0009910 Wiedemann-Rautenstrauch syndrome MONDO:0015331 Orphanet:3455 Orphanet:139027 obsolete malformation syndrome with skin/mucosae involvement +MONDO:0009910 Wiedemann-Rautenstrauch syndrome MONDO:0031689 Orphanet:3455 Orphanet:363245 obsolete genetic progeroid syndrome +MONDO:0009910 Wiedemann-Rautenstrauch syndrome MONDO:0035863 Orphanet:3455 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0009910 Wiedemann-Rautenstrauch syndrome MONDO:8000032 Orphanet:3455 Orphanet:377789 obsolete malformation syndrome +MONDO:0009914 pseudodiastrophic dysplasia MONDO:0015332 Orphanet:85174 Orphanet:139030 obsolete rare developmental defect with connective tissue involvement +MONDO:0009914 pseudodiastrophic dysplasia MONDO:0800086 Orphanet:85174 Orphanet:93441 obsolete primary bone dysplasia with multiple joint dislocations +MONDO:0009914 pseudodiastrophic dysplasia MONDO:8000032 Orphanet:85174 Orphanet:377789 obsolete malformation syndrome +MONDO:0009915 46,XX disorder of sex development-skeletal anomalies syndrome MONDO:0017965 Orphanet:2975 Orphanet:325109 obsolete syndrome with 46,XX disorder of sex development +MONDO:0009915 46,XX disorder of sex development-skeletal anomalies syndrome MONDO:0017978 Orphanet:2975 Orphanet:325638 obsolete syndrome with disorder of sex development of gynecological interest +MONDO:0009915 46,XX disorder of sex development-skeletal anomalies syndrome MONDO:8000032 Orphanet:2975 Orphanet:377789 obsolete malformation syndrome +MONDO:0009916 46,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency MONDO:0018388 Orphanet:752 Orphanet:399685 obsolete rare male infertility due to testicular endocrine disorder +MONDO:0009916 46,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency MONDO:0018400 Orphanet:752 Orphanet:399849 obsolete rare female infertility due to an adrenal disorder +MONDO:0009916 46,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency MONDO:0018412 Orphanet:752 Orphanet:400018 obsolete rare female infertility due to adrenal disorder of genetic origin +MONDO:0009916 46,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency MONDO:0019596 Orphanet:752 Orphanet:90787 obsolete 46,XY disorder of sex development due to testicular steroidogenesis defect +MONDO:0009917 autosomal recessive pseudohypoaldosteronism type 1 MONDO:8000031 Orphanet:171876 Orphanet:557494 obsolete subtype of a disorder +MONDO:0009919 peroxisomal acyl-CoA oxidase deficiency MONDO:0016398 Orphanet:2971 Orphanet:225686 obsolete peroxisomal disease with epilepsy +MONDO:0009919 peroxisomal acyl-CoA oxidase deficiency MONDO:0035862 Orphanet:2971 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome +MONDO:0009920 Acrootoocular syndrome MONDO:0008331 Orphanet:2980 Orphanet:519339 obsolete pseudopapilledema +MONDO:0009920 Acrootoocular syndrome MONDO:0020169 Orphanet:2980 Orphanet:98578 obsolete rare disorder with ptosis +MONDO:0009920 Acrootoocular syndrome MONDO:8000032 Orphanet:2980 Orphanet:377789 obsolete malformation syndrome +MONDO:0009921 holoprosencephaly-postaxial polydactyly syndrome MONDO:0035863 Orphanet:2166 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0009921 holoprosencephaly-postaxial polydactyly syndrome MONDO:8000032 Orphanet:2166 Orphanet:377789 obsolete malformation syndrome +MONDO:0009923 46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency MONDO:0018388 Orphanet:753 Orphanet:399685 obsolete rare male infertility due to testicular endocrine disorder +MONDO:0009923 46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency MONDO:0020041 Orphanet:753 Orphanet:98086 obsolete 46,XY disorder of sex development due to a defect in testosterone metabolism by peripheral tissue +MONDO:0009925 autosomal recessive inherited pseudoxanthoma elasticum MONDO:0015331 Orphanet:758 Orphanet:139027 obsolete malformation syndrome with skin/mucosae involvement +MONDO:0009925 autosomal recessive inherited pseudoxanthoma elasticum MONDO:0015332 Orphanet:758 Orphanet:139030 obsolete rare developmental defect with connective tissue involvement +MONDO:0009925 autosomal recessive inherited pseudoxanthoma elasticum MONDO:0015512 Orphanet:758 Orphanet:156629 obsolete genetic hypertension +MONDO:0009925 autosomal recessive inherited pseudoxanthoma elasticum MONDO:0015953 Orphanet:758 Orphanet:183503 obsolete genetic central nervous system and retinal vascular disease +MONDO:0009925 autosomal recessive inherited pseudoxanthoma elasticum MONDO:0019110 Orphanet:758 Orphanet:71281 obsolete rare central nervous system or retinal vascular disease +MONDO:0009925 autosomal recessive inherited pseudoxanthoma elasticum MONDO:0034953 Orphanet:758 Orphanet:519325 obsolete syndromic inherited retinal disorder +MONDO:0009926 autosomal recessive multiple pterygium syndrome MONDO:0043008 Orphanet:2990 Orphanet:330206 obsolete genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability +MONDO:0009926 autosomal recessive multiple pterygium syndrome MONDO:8000032 Orphanet:2990 Orphanet:377789 obsolete malformation syndrome +MONDO:0009928 pulmonary alveolar microlithiasis MONDO:0015510 Orphanet:60025 Orphanet:156610 obsolete rare genetic respiratory disease +MONDO:0009928 pulmonary alveolar microlithiasis MONDO:0020000 Orphanet:60025 Orphanet:97955 obsolete rare respiratory disease +MONDO:0009929 neonatal acute respiratory distress due to SP-B deficiency MONDO:0015052 Orphanet:217563 Orphanet:100049 obsolete primary interstitial lung disease specific to childhood due to pulmonary surfactant protein anomalies +MONDO:0009930 obsolete pulmonary arteriovenous malformation MONDO:0015221 Orphanet:2038 Orphanet:108993 obsolete non-syndromic respiratory or mediastinal malformation +MONDO:0009930 obsolete pulmonary arteriovenous malformation MONDO:0015930 Orphanet:2038 Orphanet:182111 obsolete respiratory malformation +MONDO:0009930 obsolete pulmonary arteriovenous malformation MONDO:0016234 Orphanet:2038 Orphanet:211266 obsolete rare arteriovenous malformation +MONDO:0009930 obsolete pulmonary arteriovenous malformation MONDO:8000030 Orphanet:2038 Orphanet:377791 obsolete morphological anomaly +MONDO:0009931 pulmonary atresia-intact ventricular septum syndrome MONDO:0020287 Orphanet:1208 Orphanet:98719 obsolete pulmonary artery or pulmonary branch anomaly +MONDO:0009931 pulmonary atresia-intact ventricular septum syndrome MONDO:8000030 Orphanet:1208 Orphanet:377791 obsolete morphological anomaly +MONDO:0009933 congenital pulmonary lymphangiectasia MONDO:0015221 Orphanet:2414 Orphanet:108993 obsolete non-syndromic respiratory or mediastinal malformation +MONDO:0009933 congenital pulmonary lymphangiectasia MONDO:0015930 Orphanet:2414 Orphanet:182111 obsolete respiratory malformation +MONDO:0009933 congenital pulmonary lymphangiectasia MONDO:0017017 Orphanet:2414 Orphanet:264683 obsolete primary interstitial lung disease specific to childhood due to alveolar vascular disorder +MONDO:0009933 congenital pulmonary lymphangiectasia MONDO:0028569 Orphanet:2414 Orphanet:264992 obsolete genetic interstitial lung disease +MONDO:0009934 alveolar capillary dysplasia with misalignment of pulmonary veins MONDO:0017017 Orphanet:210122 Orphanet:264683 obsolete primary interstitial lung disease specific to childhood due to alveolar vascular disorder +MONDO:0009934 alveolar capillary dysplasia with misalignment of pulmonary veins MONDO:0028569 Orphanet:210122 Orphanet:264992 obsolete genetic interstitial lung disease +MONDO:0009936 familial primary pulmonary hypoplasia MONDO:0015221 Orphanet:2257 Orphanet:108993 obsolete non-syndromic respiratory or mediastinal malformation +MONDO:0009936 familial primary pulmonary hypoplasia MONDO:0015930 Orphanet:2257 Orphanet:182111 obsolete respiratory malformation +MONDO:0009936 familial primary pulmonary hypoplasia MONDO:0026203 Orphanet:2257 Orphanet:183622 obsolete genetic respiratory malformation +MONDO:0009936 familial primary pulmonary hypoplasia MONDO:8000030 Orphanet:2257 Orphanet:377791 obsolete morphological anomaly +MONDO:0009942 pyknoachondrogenesis MONDO:0019718 Orphanet:3003 Orphanet:93465 obsolete lethal chondrodysplasia +MONDO:0009942 pyknoachondrogenesis MONDO:8000032 Orphanet:3003 Orphanet:377789 obsolete malformation syndrome +MONDO:0009943 Pyle disease MONDO:0800084 Orphanet:3005 Orphanet:93444 obsolete primary bone dysplasia with increased bone density +MONDO:0009945 pyridoxine-dependent epilepsy MONDO:0016404 Orphanet:3006 Orphanet:225707 obsolete metabolic neurotransmission anomaly with epilepsy +MONDO:0009945 pyridoxine-dependent epilepsy MONDO:0019058 Orphanet:3006 Orphanet:68385 obsolete neurometabolic disease +MONDO:0009945 pyridoxine-dependent epilepsy MONDO:0035862 Orphanet:3006 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome +MONDO:0009946 hemolytic anemia due to pyrimidine 5' nucleotidase deficiency MONDO:0020107 Orphanet:35120 Orphanet:98374 obsolete hemolytic anemia due to an erythrocyte nucleotide metabolism disorder +MONDO:0009947 glutathione synthetase deficiency with 5-oxoprolinuria MONDO:8000031 Orphanet:289846 Orphanet:557494 obsolete subtype of a disorder +MONDO:0009949 pyruvate carboxylase deficiency disease MONDO:0035862 Orphanet:3008 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome +MONDO:0009950 pyruvate kinase deficiency of red cells MONDO:0020106 Orphanet:766 Orphanet:98372 obsolete hemolytic anemia due to a disorder of glycolytic enzymes +MONDO:0009952 radioulnar synostosis-developmental delay-hypotonia syndrome MONDO:0020253 Orphanet:3270 Orphanet:98683 obsolete syndrome with a symptomatic strabismus +MONDO:0009952 radioulnar synostosis-developmental delay-hypotonia syndrome MONDO:0035863 Orphanet:3270 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0009952 radioulnar synostosis-developmental delay-hypotonia syndrome MONDO:0800095 Orphanet:3270 Orphanet:93459 obsolete syndrome with synostosis or other joint formation defect +MONDO:0009952 radioulnar synostosis-developmental delay-hypotonia syndrome MONDO:8000032 Orphanet:3270 Orphanet:377789 obsolete malformation syndrome +MONDO:0009953 leukocyte adhesion deficiency type II MONDO:0018287 Orphanet:99843 Orphanet:371071 obsolete congenital disorder of glycosylation with epilepsy as a major feature +MONDO:0009953 leukocyte adhesion deficiency type II MONDO:0035862 Orphanet:99843 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome +MONDO:0009953 leukocyte adhesion deficiency type II MONDO:8000031 Orphanet:99843 Orphanet:557494 obsolete subtype of a disorder +MONDO:0009954 Ramon syndrome MONDO:0015336 Orphanet:3019 Orphanet:139042 obsolete malformation syndrome with odontal and/or periodontal component +MONDO:0009954 Ramon syndrome MONDO:0026190 Orphanet:3019 Orphanet:183580 obsolete genetic malformation syndrome with odontal and/or periodontal component +MONDO:0009954 Ramon syndrome MONDO:0035863 Orphanet:3019 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0009954 Ramon syndrome MONDO:0800089 Orphanet:3019 Orphanet:93450 obsolete primary bone dysplasia with disorganized development of skeletal components +MONDO:0009954 Ramon syndrome MONDO:8000032 Orphanet:3019 Orphanet:377789 obsolete malformation syndrome +MONDO:0009955 rapadilino syndrome MONDO:0015335 Orphanet:3021 Orphanet:139039 obsolete Mendelian syndromes with cleft lip/palate +MONDO:0009955 rapadilino syndrome MONDO:0017432 Orphanet:3021 Orphanet:294955 obsolete syndrome with limb reduction defects +MONDO:0009955 rapadilino syndrome MONDO:0043008 Orphanet:3021 Orphanet:330206 obsolete genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability +MONDO:0009955 rapadilino syndrome MONDO:8000032 Orphanet:3021 Orphanet:377789 obsolete malformation syndrome +MONDO:0009958 adult Refsum disease MONDO:0016133 Orphanet:773 Orphanet:207018 obsolete rare hereditary metabolic disease with peripheral neuropathy +MONDO:0009958 adult Refsum disease MONDO:0017272 Orphanet:773 Orphanet:281238 obsolete autosomal ichthyosis syndrome with prominent neurologics signs +MONDO:0009958 adult Refsum disease MONDO:0017753 Orphanet:773 Orphanet:309810 obsolete disorder of peroxisomal alpha-, beta- and omega-oxidation +MONDO:0009958 adult Refsum disease MONDO:0019058 Orphanet:773 Orphanet:68385 obsolete neurometabolic disease +MONDO:0009958 adult Refsum disease MONDO:0020228 Orphanet:773 Orphanet:98644 obsolete cataract associated with a metabolic disease +MONDO:0009958 adult Refsum disease MONDO:0020240 Orphanet:773 Orphanet:98661 obsolete syndromic retinitis pigmentosa +MONDO:0009958 adult Refsum disease MONDO:0035862 Orphanet:773 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome +MONDO:0009963 Ulbright-Hodes syndrome MONDO:0019721 Orphanet:3404 Orphanet:93547 obsolete syndromic renal or urinary tract malformation +MONDO:0009963 Ulbright-Hodes syndrome MONDO:0035863 Orphanet:3404 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0009963 Ulbright-Hodes syndrome MONDO:8000032 Orphanet:3404 Orphanet:377789 obsolete malformation syndrome +MONDO:0009964 short-rib thoracic dysplasia 9 with or without polydactyly MONDO:0020240 Orphanet:140969 Orphanet:98661 obsolete syndromic retinitis pigmentosa +MONDO:0009964 short-rib thoracic dysplasia 9 with or without polydactyly MONDO:0022409 Orphanet:140969 Orphanet:156162 obsolete nephropathy-associated ciliopathy +MONDO:0009965 Perlman syndrome MONDO:0015945 Orphanet:2849 Orphanet:183422 obsolete polymalformative genetic syndrome with increased risk of developing cancer +MONDO:0009965 Perlman syndrome MONDO:0017891 Orphanet:2849 Orphanet:319328 obsolete inherited renal cancer-predisposing syndrome +MONDO:0009965 Perlman syndrome MONDO:8000032 Orphanet:2849 Orphanet:377789 obsolete malformation syndrome +MONDO:0009966 NPHP3-related Meckel-like syndrome MONDO:0015114 Orphanet:3032 Orphanet:101939 obsolete rare parenchymal liver disease +MONDO:0009966 NPHP3-related Meckel-like syndrome MONDO:0015508 Orphanet:3032 Orphanet:156604 obsolete hereditary parenchymatous liver disease +MONDO:0009966 NPHP3-related Meckel-like syndrome MONDO:0017121 Orphanet:3032 Orphanet:269546 obsolete syndrome with a Dandy-Walker malformation as major feature +MONDO:0009966 NPHP3-related Meckel-like syndrome MONDO:0019721 Orphanet:3032 Orphanet:93547 obsolete syndromic renal or urinary tract malformation +MONDO:0009966 NPHP3-related Meckel-like syndrome MONDO:0022405 Orphanet:3032 Orphanet:156180 obsolete retinal ciliopathy due to mutation in nephronophthisis gene +MONDO:0009966 NPHP3-related Meckel-like syndrome MONDO:8000032 Orphanet:3032 Orphanet:377789 obsolete malformation syndrome +MONDO:0009970 renal tubular dysgenesis of genetic origin MONDO:8000031 Orphanet:97369 Orphanet:557494 obsolete subtype of a disorder +MONDO:0009971 respiratory distress syndrome in premature infants MONDO:0017016 Orphanet:70587 Orphanet:264670 obsolete primary interstitial lung disease specific to childhood due to alveolar structure disorder +MONDO:0009978 retinal degeneration-nanophthalmos-glaucoma syndrome MONDO:0020240 Orphanet:1574 Orphanet:98661 obsolete syndromic retinitis pigmentosa +MONDO:0009978 retinal degeneration-nanophthalmos-glaucoma syndrome MONDO:8000032 Orphanet:1574 Orphanet:377789 obsolete malformation syndrome +MONDO:0009983 retinitis pigmentosa-intellectual disability-deafness-hypogenitalism syndrome MONDO:0019589 Orphanet:3085 Orphanet:90642 obsolete syndromic genetic hearing loss +MONDO:0009983 retinitis pigmentosa-intellectual disability-deafness-hypogenitalism syndrome MONDO:0020225 Orphanet:3085 Orphanet:98641 obsolete syndromic cataract +MONDO:0009983 retinitis pigmentosa-intellectual disability-deafness-hypogenitalism syndrome MONDO:0020240 Orphanet:3085 Orphanet:98661 obsolete syndromic retinitis pigmentosa +MONDO:0009983 retinitis pigmentosa-intellectual disability-deafness-hypogenitalism syndrome MONDO:0035863 Orphanet:3085 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0009983 retinitis pigmentosa-intellectual disability-deafness-hypogenitalism syndrome MONDO:8000032 Orphanet:3085 Orphanet:377789 obsolete malformation syndrome +MONDO:0009990 Revesz syndrome MONDO:0034953 Orphanet:3088 Orphanet:519325 obsolete syndromic inherited retinal disorder +MONDO:0009990 Revesz syndrome MONDO:8000032 Orphanet:3088 Orphanet:377789 obsolete malformation syndrome +MONDO:0009993 embryonal rhabdomyosarcoma MONDO:8000031 Orphanet:99757 Orphanet:557494 obsolete subtype of a disorder +MONDO:0009994 alveolar rhabdomyosarcoma MONDO:8000031 Orphanet:99756 Orphanet:557494 obsolete subtype of a disorder +MONDO:0009996 rhizomelic syndrome, Urbach type MONDO:0019697 Orphanet:3098 Orphanet:93438 obsolete mesomelic and rhizo-mesomelic dysplasia +MONDO:0009996 rhizomelic syndrome, Urbach type MONDO:8000032 Orphanet:3098 Orphanet:377789 obsolete malformation syndrome +MONDO:0009998 Richieri Costa-Pereira syndrome MONDO:0015335 Orphanet:3102 Orphanet:139039 obsolete Mendelian syndromes with cleft lip/palate +MONDO:0009998 Richieri Costa-Pereira syndrome MONDO:0043008 Orphanet:3102 Orphanet:330206 obsolete genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability +MONDO:0009998 Richieri Costa-Pereira syndrome MONDO:8000032 Orphanet:3102 Orphanet:377789 obsolete malformation syndrome +MONDO:0009999 autosomal recessive Robinow syndrome MONDO:8000031 Orphanet:1507 Orphanet:557494 obsolete subtype of a disorder +MONDO:0010001 ectodermal dysplasia-blindness syndrome MONDO:8000032 Orphanet:1806 Orphanet:377789 obsolete malformation syndrome +MONDO:0010002 Rothmund-Thomson syndrome MONDO:0019304 Orphanet:2909 Orphanet:79390 obsolete rare photodermatosis +MONDO:0010002 Rothmund-Thomson syndrome MONDO:0020233 Orphanet:2909 Orphanet:98649 obsolete dentocutaneous disease with cataract +MONDO:0010002 Rothmund-Thomson syndrome MONDO:0031689 Orphanet:2909 Orphanet:363245 obsolete genetic progeroid syndrome +MONDO:0010004 EEC syndrome MONDO:0015501 Orphanet:1896 Orphanet:156237 obsolete syndrome or malformation associated with head and neck malformations +MONDO:0010004 EEC syndrome MONDO:0019721 Orphanet:1896 Orphanet:93547 obsolete syndromic renal or urinary tract malformation +MONDO:0010004 EEC syndrome MONDO:0020197 Orphanet:1896 Orphanet:98609 obsolete EEC syndrome and related syndrome +MONDO:0010004 EEC syndrome MONDO:0800090 Orphanet:1896 Orphanet:498477 obsolete ectrodactyly with and without other manifestations +MONDO:0010004 EEC syndrome MONDO:8000032 Orphanet:1896 Orphanet:377789 obsolete malformation syndrome +MONDO:0010006 Sandhoff disease MONDO:0016133 Orphanet:796 Orphanet:207018 obsolete rare hereditary metabolic disease with peripheral neuropathy +MONDO:0010006 Sandhoff disease MONDO:0034953 Orphanet:796 Orphanet:519325 obsolete syndromic inherited retinal disorder +MONDO:0010007 microbrachycephaly-ptosis-cleft lip syndrome MONDO:0015335 Orphanet:2511 Orphanet:139039 obsolete Mendelian syndromes with cleft lip/palate +MONDO:0010007 microbrachycephaly-ptosis-cleft lip syndrome MONDO:0020253 Orphanet:2511 Orphanet:98683 obsolete syndrome with a symptomatic strabismus +MONDO:0010007 microbrachycephaly-ptosis-cleft lip syndrome MONDO:0035863 Orphanet:2511 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0010007 microbrachycephaly-ptosis-cleft lip syndrome MONDO:8000032 Orphanet:2511 Orphanet:377789 obsolete malformation syndrome +MONDO:0010010 Schinzel-Giedion syndrome MONDO:0015945 Orphanet:798 Orphanet:183422 obsolete polymalformative genetic syndrome with increased risk of developing cancer +MONDO:0010010 Schinzel-Giedion syndrome MONDO:0019721 Orphanet:798 Orphanet:93547 obsolete syndromic renal or urinary tract malformation +MONDO:0010010 Schinzel-Giedion syndrome MONDO:0035863 Orphanet:798 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0010010 Schinzel-Giedion syndrome MONDO:8000032 Orphanet:798 Orphanet:377789 obsolete malformation syndrome +MONDO:0010011 schizencephaly MONDO:0015655 Orphanet:799 Orphanet:166478 obsolete cerebral malformation with epilepsy +MONDO:0010011 schizencephaly MONDO:0020253 Orphanet:799 Orphanet:98683 obsolete syndrome with a symptomatic strabismus +MONDO:0010012 autoimmune polyendocrinopathy type 2 MONDO:0015130 Orphanet:3143 Orphanet:101963 obsolete acquired chronic primary adrenal insufficiency +MONDO:0010012 autoimmune polyendocrinopathy type 2 MONDO:0018401 Orphanet:3143 Orphanet:399853 obsolete female infertility due to an anomaly of ovarian function +MONDO:0010013 schneckenbecken dysplasia MONDO:0017744 Orphanet:3144 Orphanet:309463 obsolete disorder of O-xylosyl/N-acetylgalactosaminylglycan synthesis +MONDO:0010013 schneckenbecken dysplasia MONDO:0018292 Orphanet:3144 Orphanet:371195 obsolete congenital disorder of glycosylation-related bone disorder +MONDO:0010013 schneckenbecken dysplasia MONDO:8000032 Orphanet:3144 Orphanet:377789 obsolete malformation syndrome +MONDO:0010014 craniometadiaphyseal dysplasia, wormian bone type MONDO:0800084 Orphanet:85184 Orphanet:93444 obsolete primary bone dysplasia with increased bone density +MONDO:0010014 craniometadiaphyseal dysplasia, wormian bone type MONDO:8000032 Orphanet:85184 Orphanet:377789 obsolete malformation syndrome +MONDO:0010015 anterior segment dysgenesis 7 MONDO:0020225 Orphanet:289499 Orphanet:98641 obsolete syndromic cataract +MONDO:0010015 anterior segment dysgenesis 7 MONDO:8000032 Orphanet:289499 Orphanet:377789 obsolete malformation syndrome +MONDO:0010017 sea-blue histiocyte syndrome MONDO:0028795 Orphanet:158029 Orphanet:271870 obsolete rare genetic systemic or rheumatologic disease +MONDO:0010024 Beemer-Langer syndrome MONDO:8000032 Orphanet:93268 Orphanet:377789 obsolete malformation syndrome +MONDO:0010026 SHORT syndrome MONDO:0015329 Orphanet:3163 Orphanet:139021 obsolete malformation syndrome with short stature +MONDO:0010026 SHORT syndrome MONDO:0015885 Orphanet:3163 Orphanet:181368 obsolete rare insulin-resistance syndrome +MONDO:0010026 SHORT syndrome MONDO:0020210 Orphanet:3163 Orphanet:98622 obsolete syndromic hyperopia +MONDO:0010026 SHORT syndrome MONDO:0020222 Orphanet:3163 Orphanet:98638 obsolete rare disease with glaucoma as a major feature +MONDO:0010026 SHORT syndrome MONDO:0026187 Orphanet:3163 Orphanet:183570 obsolete genetic malformation syndrome with short stature +MONDO:0010026 SHORT syndrome MONDO:0031689 Orphanet:3163 Orphanet:363245 obsolete genetic progeroid syndrome +MONDO:0010026 SHORT syndrome MONDO:0035863 Orphanet:3163 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0010026 SHORT syndrome MONDO:8000032 Orphanet:3163 Orphanet:377789 obsolete malformation syndrome +MONDO:0010027 free sialic acid storage disease, infantile form MONDO:8000031 Orphanet:309324 Orphanet:557494 obsolete subtype of a disorder +MONDO:0010029 situs inversus MONDO:0015213 Orphanet:101063 Orphanet:108971 obsolete non-syndromic visceral malformation +MONDO:0010029 situs inversus MONDO:0017131 Orphanet:101063 Orphanet:271853 obsolete hereditary cardiac anomaly +MONDO:0010029 situs inversus MONDO:8000030 Orphanet:101063 Orphanet:377791 obsolete morphological anomaly +MONDO:0010030 Sjogren syndrome MONDO:0015118 Orphanet:289390 Orphanet:101944 obsolete rare pulmonary disease +MONDO:0010030 Sjogren syndrome MONDO:0015939 Orphanet:289390 Orphanet:182228 obsolete systemic autoimmune disease +MONDO:0010031 Sjogren-Larsson syndrome MONDO:0017272 Orphanet:816 Orphanet:281238 obsolete autosomal ichthyosis syndrome with prominent neurologics signs +MONDO:0010031 Sjogren-Larsson syndrome MONDO:0018118 Orphanet:816 Orphanet:352306 obsolete disorder of phospholipids, sphingolipids and fatty acids biosynthesis with central nervous system predominant involvement +MONDO:0010031 Sjogren-Larsson syndrome MONDO:0019058 Orphanet:816 Orphanet:68385 obsolete neurometabolic disease +MONDO:0010031 Sjogren-Larsson syndrome MONDO:0034953 Orphanet:816 Orphanet:519325 obsolete syndromic inherited retinal disorder +MONDO:0010031 Sjogren-Larsson syndrome MONDO:0035862 Orphanet:816 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome +MONDO:0010035 Smith-Lemli-Opitz syndrome MONDO:0015329 Orphanet:818 Orphanet:139021 obsolete malformation syndrome with short stature +MONDO:0010035 Smith-Lemli-Opitz syndrome MONDO:0017434 Orphanet:818 Orphanet:294959 obsolete syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy +MONDO:0010035 Smith-Lemli-Opitz syndrome MONDO:0017971 Orphanet:818 Orphanet:325511 obsolete 46,XY disorder of sex development due to a cholesterol synthesis defect +MONDO:0010035 Smith-Lemli-Opitz syndrome MONDO:0019721 Orphanet:818 Orphanet:93547 obsolete syndromic renal or urinary tract malformation +MONDO:0010035 Smith-Lemli-Opitz syndrome MONDO:0020165 Orphanet:818 Orphanet:98574 obsolete syndromic epicanthus +MONDO:0010035 Smith-Lemli-Opitz syndrome MONDO:0020169 Orphanet:818 Orphanet:98578 obsolete rare disorder with ptosis +MONDO:0010035 Smith-Lemli-Opitz syndrome MONDO:0020234 Orphanet:818 Orphanet:98650 obsolete craniofacial anomaly with cataract +MONDO:0010035 Smith-Lemli-Opitz syndrome MONDO:0026187 Orphanet:818 Orphanet:183570 obsolete genetic malformation syndrome with short stature +MONDO:0010035 Smith-Lemli-Opitz syndrome MONDO:0035863 Orphanet:818 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0010035 Smith-Lemli-Opitz syndrome MONDO:8000032 Orphanet:818 Orphanet:377789 obsolete malformation syndrome +MONDO:0010038 growth delay due to insulin-like growth factor I resistance MONDO:0035862 Orphanet:73273 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome +MONDO:0010039 congenital heart defect-round face-developmental delay syndrome MONDO:0035863 Orphanet:1355 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0010039 congenital heart defect-round face-developmental delay syndrome MONDO:8000032 Orphanet:1355 Orphanet:377789 obsolete malformation syndrome +MONDO:0010044 hereditary spastic paraplegia 15 MONDO:0015089 Orphanet:100996 Orphanet:100981 obsolete autosomal recessive complex spastic paraplegia +MONDO:0010044 hereditary spastic paraplegia 15 MONDO:0035862 Orphanet:100996 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome +MONDO:0010046 hereditary spastic paraplegia 23 MONDO:0015089 Orphanet:101003 Orphanet:100981 obsolete autosomal recessive complex spastic paraplegia +MONDO:0010047 hereditary spastic paraplegia 5A MONDO:0017915 Orphanet:100986 Orphanet:320346 obsolete pure or complex autosomal recessive spastic paraplegia +MONDO:0010049 spastic paraplegia-glaucoma-intellectual disability syndrome MONDO:0015089 Orphanet:2818 Orphanet:100981 obsolete autosomal recessive complex spastic paraplegia +MONDO:0010049 spastic paraplegia-glaucoma-intellectual disability syndrome MONDO:0020222 Orphanet:2818 Orphanet:98638 obsolete rare disease with glaucoma as a major feature +MONDO:0010049 spastic paraplegia-glaucoma-intellectual disability syndrome MONDO:0035862 Orphanet:2818 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome +MONDO:0010051 spastic tetraplegia-retinitis pigmentosa-intellectual disability syndrome MONDO:0020240 Orphanet:3011 Orphanet:98661 obsolete syndromic retinitis pigmentosa +MONDO:0010051 spastic tetraplegia-retinitis pigmentosa-intellectual disability syndrome MONDO:0035862 Orphanet:3011 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome +MONDO:0010056 spinal muscular atrophy, type IV MONDO:8000031 Orphanet:83420 Orphanet:557494 obsolete subtype of a disorder +MONDO:0010061 autosomal recessive cerebellar ataxia-blindness-deafness syndrome MONDO:0019058 Orphanet:95433 Orphanet:68385 obsolete neurometabolic disease +MONDO:0010063 corneal-cerebellar syndrome MONDO:0020215 Orphanet:3177 Orphanet:98628 obsolete syndromic corneal dystrophy +MONDO:0010063 corneal-cerebellar syndrome MONDO:0035863 Orphanet:3177 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0010063 corneal-cerebellar syndrome MONDO:8000032 Orphanet:3177 Orphanet:377789 obsolete malformation syndrome +MONDO:0010064 spastic ataxia-corneal dystrophy syndrome MONDO:0020215 Orphanet:2572 Orphanet:98628 obsolete syndromic corneal dystrophy +MONDO:0010064 spastic ataxia-corneal dystrophy syndrome MONDO:0020225 Orphanet:2572 Orphanet:98641 obsolete syndromic cataract +MONDO:0010066 familial isolated congenital asplenia MONDO:0015213 Orphanet:101351 Orphanet:108971 obsolete non-syndromic visceral malformation +MONDO:0010066 familial isolated congenital asplenia MONDO:0018033 Orphanet:101351 Orphanet:331193 obsolete other immunodeficiency syndromes due to defects in innate immunity +MONDO:0010066 familial isolated congenital asplenia MONDO:8000030 Orphanet:101351 Orphanet:377791 obsolete morphological anomaly +MONDO:0010073 spondyloepiphyseal dysplasia tarda, Kohn type MONDO:0035863 Orphanet:163665 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0010075 spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures MONDO:0800086 Orphanet:642099 Orphanet:93441 obsolete primary bone dysplasia with multiple joint dislocations +MONDO:0010079 Canavan disease MONDO:0015918 Orphanet:141 Orphanet:182070 obsolete rare neurodegenerative disease +MONDO:0010079 Canavan disease MONDO:0016399 Orphanet:141 Orphanet:225689 obsolete amino acid or protein metabolism disease with epilepsy +MONDO:0010079 Canavan disease MONDO:0019058 Orphanet:141 Orphanet:68385 obsolete neurometabolic disease +MONDO:0010082 subaortic stenosis-short stature syndrome MONDO:0015329 Orphanet:3191 Orphanet:139021 obsolete malformation syndrome with short stature +MONDO:0010082 subaortic stenosis-short stature syndrome MONDO:0015506 Orphanet:3191 Orphanet:156532 obsolete rare syndrome with cardiac malformations +MONDO:0010082 subaortic stenosis-short stature syndrome MONDO:0026187 Orphanet:3191 Orphanet:183570 obsolete genetic malformation syndrome with short stature +MONDO:0010082 subaortic stenosis-short stature syndrome MONDO:0043008 Orphanet:3191 Orphanet:330206 obsolete genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability +MONDO:0010082 subaortic stenosis-short stature syndrome MONDO:8000032 Orphanet:3191 Orphanet:377789 obsolete malformation syndrome +MONDO:0010083 succinic semialdehyde dehydrogenase deficiency MONDO:0016404 Orphanet:22 Orphanet:225707 obsolete metabolic neurotransmission anomaly with epilepsy +MONDO:0010083 succinic semialdehyde dehydrogenase deficiency MONDO:0019058 Orphanet:22 Orphanet:68385 obsolete neurometabolic disease +MONDO:0010083 succinic semialdehyde dehydrogenase deficiency MONDO:0019224 Orphanet:22 Orphanet:79175 obsolete inborn disorder of gamma-aminobutyric acid metabolism +MONDO:0010083 succinic semialdehyde dehydrogenase deficiency MONDO:0035862 Orphanet:22 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome +MONDO:0010085 Schilder disease MONDO:0016428 Orphanet:59298 Orphanet:228145 obsolete multiple sclerosis variant +MONDO:0010087 Sugarman brachydactyly MONDO:0800093 Orphanet:498602 Orphanet:498451 obsolete dysostosis with brachydactyly without extraskeletal manifestations +MONDO:0010087 Sugarman brachydactyly MONDO:8000030 Orphanet:498602 Orphanet:377791 obsolete morphological anomaly +MONDO:0010088 mucosulfatidosis MONDO:0017273 Orphanet:585 Orphanet:281241 obsolete autosomal ichthyosis syndrome with fatal disease course +MONDO:0010088 mucosulfatidosis MONDO:0018299 Orphanet:585 Orphanet:371442 obsolete sphingolipidosis with epilepsy +MONDO:0010088 mucosulfatidosis MONDO:0019058 Orphanet:585 Orphanet:68385 obsolete neurometabolic disease +MONDO:0010088 mucosulfatidosis MONDO:0020228 Orphanet:585 Orphanet:98644 obsolete cataract associated with a metabolic disease +MONDO:0010089 isolated sulfite oxidase deficiency MONDO:8000031 Orphanet:99731 Orphanet:557494 obsolete subtype of a disorder +MONDO:0010090 Summitt syndrome MONDO:8000032 Orphanet:3210 Orphanet:377789 obsolete malformation syndrome +MONDO:0010091 Cold-induced sweating syndrome 1 MONDO:8000032 Orphanet:1545 Orphanet:377789 obsolete malformation syndrome +MONDO:0010092 Filippi syndrome MONDO:0017434 Orphanet:3255 Orphanet:294959 obsolete syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy +MONDO:0010092 Filippi syndrome MONDO:0035863 Orphanet:3255 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0010092 Filippi syndrome MONDO:8000032 Orphanet:3255 Orphanet:377789 obsolete malformation syndrome +MONDO:0010094 spondylocarpotarsal synostosis syndrome MONDO:8000032 Orphanet:3275 Orphanet:377789 obsolete malformation syndrome +MONDO:0010100 Tay-Sachs disease MONDO:0016133 Orphanet:845 Orphanet:207018 obsolete rare hereditary metabolic disease with peripheral neuropathy +MONDO:0010100 Tay-Sachs disease MONDO:0034953 Orphanet:845 Orphanet:519325 obsolete syndromic inherited retinal disorder +MONDO:0010101 Teebi-Shaltout syndrome MONDO:0800085 Orphanet:3291 Orphanet:93453 obsolete dysostosis with predominant craniofacial involvement +MONDO:0010101 Teebi-Shaltout syndrome MONDO:8000032 Orphanet:3291 Orphanet:377789 obsolete malformation syndrome +MONDO:0010104 non-eruption of teeth-maxillary hypoplasia-genu valgum syndrome MONDO:0015336 Orphanet:2972 Orphanet:139042 obsolete malformation syndrome with odontal and/or periodontal component +MONDO:0010104 non-eruption of teeth-maxillary hypoplasia-genu valgum syndrome MONDO:0026190 Orphanet:2972 Orphanet:183580 obsolete genetic malformation syndrome with odontal and/or periodontal component +MONDO:0010104 non-eruption of teeth-maxillary hypoplasia-genu valgum syndrome MONDO:8000032 Orphanet:2972 Orphanet:377789 obsolete malformation syndrome +MONDO:0010108 testicular germ cell tumor MONDO:0018191 Orphanet:363504 Orphanet:363472 obsolete tumor of testis and paratestis +MONDO:0010110 tetraamelia-multiple malformations syndrome MONDO:0017432 Orphanet:3301 Orphanet:294955 obsolete syndrome with limb reduction defects +MONDO:0010110 tetraamelia-multiple malformations syndrome MONDO:0020225 Orphanet:3301 Orphanet:98641 obsolete syndromic cataract +MONDO:0010110 tetraamelia-multiple malformations syndrome MONDO:0043008 Orphanet:3301 Orphanet:330206 obsolete genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability +MONDO:0010110 tetraamelia-multiple malformations syndrome MONDO:8000032 Orphanet:3301 Orphanet:377789 obsolete malformation syndrome +MONDO:0010111 odontotrichomelic syndrome MONDO:0015335 Orphanet:2723 Orphanet:139039 obsolete Mendelian syndromes with cleft lip/palate +MONDO:0010111 odontotrichomelic syndrome MONDO:0015336 Orphanet:2723 Orphanet:139042 obsolete malformation syndrome with odontal and/or periodontal component +MONDO:0010111 odontotrichomelic syndrome MONDO:0026190 Orphanet:2723 Orphanet:183580 obsolete genetic malformation syndrome with odontal and/or periodontal component +MONDO:0010111 odontotrichomelic syndrome MONDO:8000032 Orphanet:2723 Orphanet:377789 obsolete malformation syndrome +MONDO:0010115 thoracic dysplasia-hydrocephalus syndrome MONDO:0017120 Orphanet:1861 Orphanet:269531 obsolete other syndrome with a central nervous system malformation as major feature +MONDO:0010115 thoracic dysplasia-hydrocephalus syndrome MONDO:8000032 Orphanet:1861 Orphanet:377789 obsolete malformation syndrome +MONDO:0010121 thrombocytopenia-absent radius syndrome MONDO:0017432 Orphanet:3320 Orphanet:294955 obsolete syndrome with limb reduction defects +MONDO:0010121 thrombocytopenia-absent radius syndrome MONDO:8000032 Orphanet:3320 Orphanet:377789 obsolete malformation syndrome +MONDO:0010122 congenital thrombotic thrombocytopenic purpura MONDO:0026193 Orphanet:93583 Orphanet:183589 obsolete genetic thrombotic microangiopathy +MONDO:0010122 congenital thrombotic thrombocytopenic purpura MONDO:8000031 Orphanet:93583 Orphanet:557494 obsolete subtype of a disorder +MONDO:0010123 obsolete absent thumb-short stature-immunodeficiency syndrome MONDO:0018035 Orphanet:2951 Orphanet:331217 obsolete syndrome with combined immunodeficiency +MONDO:0010123 obsolete absent thumb-short stature-immunodeficiency syndrome MONDO:8000032 Orphanet:2951 Orphanet:377789 obsolete malformation syndrome +MONDO:0010125 upper limb defect-eye and ear abnormalities syndrome MONDO:0020225 Orphanet:2489 Orphanet:98641 obsolete syndromic cataract +MONDO:0010125 upper limb defect-eye and ear abnormalities syndrome MONDO:0035863 Orphanet:2489 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0010125 upper limb defect-eye and ear abnormalities syndrome MONDO:8000032 Orphanet:2489 Orphanet:377789 obsolete malformation syndrome +MONDO:0010128 thyrocerebrorenal syndrome MONDO:0019721 Orphanet:3327 Orphanet:93547 obsolete syndromic renal or urinary tract malformation +MONDO:0010128 thyrocerebrorenal syndrome MONDO:8000032 Orphanet:3327 Orphanet:377789 obsolete malformation syndrome +MONDO:0010129 thymic-renal-anal-lung dysplasia MONDO:0019721 Orphanet:3326 Orphanet:93547 obsolete syndromic renal or urinary tract malformation +MONDO:0010129 thymic-renal-anal-lung dysplasia MONDO:0043008 Orphanet:3326 Orphanet:330206 obsolete genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability +MONDO:0010129 thymic-renal-anal-lung dysplasia MONDO:8000032 Orphanet:3326 Orphanet:377789 obsolete malformation syndrome +MONDO:0010132 familial thyroid dyshormonogenesis MONDO:0019856 Orphanet:95716 Orphanet:95714 obsolete primary congenital hypothyroidism without thyroid developmental anomaly +MONDO:0010132 familial thyroid dyshormonogenesis MONDO:0035862 Orphanet:95716 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome +MONDO:0010134 Pendred syndrome MONDO:0015778 Orphanet:705 Orphanet:177107 obsolete syndromic hypothyroidism +MONDO:0010134 Pendred syndrome MONDO:0019589 Orphanet:705 Orphanet:90642 obsolete syndromic genetic hearing loss +MONDO:0010134 Pendred syndrome MONDO:8000032 Orphanet:705 Orphanet:377789 obsolete malformation syndrome +MONDO:0010142 hypothyroidism due to TSH receptor mutations MONDO:0019856 Orphanet:90673 Orphanet:95714 obsolete primary congenital hypothyroidism without thyroid developmental anomaly +MONDO:0010144 tibial hemimelia MONDO:8000030 Orphanet:93322 Orphanet:377791 obsolete morphological anomaly +MONDO:0010146 Kerion celsi MONDO:0019546 Orphanet:499 Orphanet:90077 obsolete other acquired skin disease +MONDO:0010148 Mounier-Kuhn syndrome MONDO:0020000 Orphanet:3347 Orphanet:97955 obsolete rare respiratory disease +MONDO:0010148 Mounier-Kuhn syndrome MONDO:0032013 Orphanet:3347 Orphanet:377792 obsolete clinical syndrome +MONDO:0010149 transcobalamin II deficiency MONDO:0018035 Orphanet:859 Orphanet:331217 obsolete syndrome with combined immunodeficiency +MONDO:0010149 transcobalamin II deficiency MONDO:0020109 Orphanet:859 Orphanet:98396 obsolete constitutional megaloblastic anemia due to vitamin B12 metabolism disorder +MONDO:0010152 trichomegaly-retina pigmentary degeneration-dwarfism syndrome MONDO:0020240 Orphanet:3363 Orphanet:98661 obsolete syndromic retinitis pigmentosa +MONDO:0010152 trichomegaly-retina pigmentary degeneration-dwarfism syndrome MONDO:0035863 Orphanet:3363 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0010152 trichomegaly-retina pigmentary degeneration-dwarfism syndrome MONDO:8000032 Orphanet:3363 Orphanet:377789 obsolete malformation syndrome +MONDO:0010153 trichoodontoonychial dysplasia MONDO:0015336 Orphanet:3355 Orphanet:139042 obsolete malformation syndrome with odontal and/or periodontal component +MONDO:0010153 trichoodontoonychial dysplasia MONDO:0026190 Orphanet:3355 Orphanet:183580 obsolete genetic malformation syndrome with odontal and/or periodontal component +MONDO:0010153 trichoodontoonychial dysplasia MONDO:8000032 Orphanet:3355 Orphanet:377789 obsolete malformation syndrome +MONDO:0010154 trigonocephaly-bifid nose-acral anomalies syndrome MONDO:0043008 Orphanet:3368 Orphanet:330206 obsolete genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability +MONDO:0010154 trigonocephaly-bifid nose-acral anomalies syndrome MONDO:8000032 Orphanet:3368 Orphanet:377789 obsolete malformation syndrome +MONDO:0010155 Dorfman-Chanarin disease MONDO:0020228 Orphanet:98907 Orphanet:98644 obsolete cataract associated with a metabolic disease +MONDO:0010155 Dorfman-Chanarin disease MONDO:0029102 Orphanet:98907 Orphanet:281244 obsolete autosomal ichthyosis syndrome with other associated signs +MONDO:0010155 Dorfman-Chanarin disease MONDO:0035862 Orphanet:98907 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome +MONDO:0010156 Troyer syndrome MONDO:0015089 Orphanet:101000 Orphanet:100981 obsolete autosomal recessive complex spastic paraplegia +MONDO:0010156 Troyer syndrome MONDO:0035862 Orphanet:101000 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome +MONDO:0010160 tyrosinemia type II MONDO:0020097 Orphanet:28378 Orphanet:98357 obsolete autosomal recessive disease with focal palmoplantar keratoderma as a major feature +MONDO:0010160 tyrosinemia type II MONDO:0035862 Orphanet:28378 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome +MONDO:0010161 tyrosinemia type I MONDO:0015115 Orphanet:882 Orphanet:101940 obsolete rare genetic metabolic liver disease +MONDO:0010161 tyrosinemia type I MONDO:0015945 Orphanet:882 Orphanet:183422 obsolete polymalformative genetic syndrome with increased risk of developing cancer +MONDO:0010161 tyrosinemia type I MONDO:0016133 Orphanet:882 Orphanet:207018 obsolete rare hereditary metabolic disease with peripheral neuropathy +MONDO:0010161 tyrosinemia type I MONDO:0019743 Orphanet:882 Orphanet:93593 obsolete nephropathy secondary to a storage or other metabolic disease +MONDO:0010164 phocomelia, Schinzel type MONDO:0017432 Orphanet:2879 Orphanet:294955 obsolete syndrome with limb reduction defects +MONDO:0010164 phocomelia, Schinzel type MONDO:8000032 Orphanet:2879 Orphanet:377789 obsolete malformation syndrome +MONDO:0010165 ulna hypoplasia-intellectual disability syndrome MONDO:0017432 Orphanet:2249 Orphanet:294955 obsolete syndrome with limb reduction defects +MONDO:0010165 ulna hypoplasia-intellectual disability syndrome MONDO:0035863 Orphanet:2249 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0010165 ulna hypoplasia-intellectual disability syndrome MONDO:8000032 Orphanet:2249 Orphanet:377789 obsolete malformation syndrome +MONDO:0010167 urocanic aciduria MONDO:0019058 Orphanet:210128 Orphanet:68385 obsolete neurometabolic disease +MONDO:0010168 Usher syndrome type 1 MONDO:8000031 Orphanet:231169 Orphanet:557494 obsolete subtype of a disorder +MONDO:0010172 VACTERL with hydrocephalus MONDO:0015246 Orphanet:3412 Orphanet:117573 obsolete syndromic anorectal malformation +MONDO:0010172 VACTERL with hydrocephalus MONDO:0035863 Orphanet:3412 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0010172 VACTERL with hydrocephalus MONDO:8000032 Orphanet:3412 Orphanet:377789 obsolete malformation syndrome +MONDO:0010173 Mayer-Rokitansky-Kuster-Hauser syndrome type 1 MONDO:8000031 Orphanet:247775 Orphanet:557494 obsolete subtype of a disorder +MONDO:0010176 orofaciodigital syndrome type 6 MONDO:0017118 Orphanet:2754 Orphanet:269523 obsolete syndrome with a cerebellar malformation as major feature +MONDO:0010176 orofaciodigital syndrome type 6 MONDO:0019589 Orphanet:2754 Orphanet:90642 obsolete syndromic genetic hearing loss +MONDO:0010176 orofaciodigital syndrome type 6 MONDO:0035863 Orphanet:2754 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0010176 orofaciodigital syndrome type 6 MONDO:8000032 Orphanet:2754 Orphanet:377789 obsolete malformation syndrome +MONDO:0010177 vascular hyalinosis MONDO:8000032 Orphanet:3018 Orphanet:377789 obsolete malformation syndrome +MONDO:0010179 isolated right ventricular hypoplasia MONDO:8000030 Orphanet:439 Orphanet:377791 obsolete morphological anomaly +MONDO:0010180 autosomal recessive spondylocostal dysostosis MONDO:0018292 Orphanet:2311 Orphanet:371195 obsolete congenital disorder of glycosylation-related bone disorder +MONDO:0010180 autosomal recessive spondylocostal dysostosis MONDO:0019711 Orphanet:2311 Orphanet:93454 obsolete dysostosis with predominant vertebral and costal involvement +MONDO:0010180 autosomal recessive spondylocostal dysostosis MONDO:8000032 Orphanet:2311 Orphanet:377789 obsolete malformation syndrome +MONDO:0010181 oculogastrointestinal muscular dystrophy MONDO:0015184 Orphanet:1876 Orphanet:104009 obsolete rare disease involving intestinal motility +MONDO:0010181 oculogastrointestinal muscular dystrophy MONDO:0020169 Orphanet:1876 Orphanet:98578 obsolete rare disorder with ptosis +MONDO:0010183 methylmalonic aciduria and homocystinuria type cblF MONDO:8000031 Orphanet:79284 Orphanet:557494 obsolete subtype of a disorder +MONDO:0010184 methylmalonic aciduria and homocystinuria type cblC MONDO:0016133 Orphanet:79282 Orphanet:207018 obsolete rare hereditary metabolic disease with peripheral neuropathy +MONDO:0010184 methylmalonic aciduria and homocystinuria type cblC MONDO:0020240 Orphanet:79282 Orphanet:98661 obsolete syndromic retinitis pigmentosa +MONDO:0010184 methylmalonic aciduria and homocystinuria type cblC MONDO:8000031 Orphanet:79282 Orphanet:557494 obsolete subtype of a disorder +MONDO:0010185 methylmalonic aciduria and homocystinuria type cblD MONDO:8000031 Orphanet:79283 Orphanet:557494 obsolete subtype of a disorder +MONDO:0010188 familial isolated deficiency of vitamin E MONDO:0016133 Orphanet:96 Orphanet:207018 obsolete rare hereditary metabolic disease with peripheral neuropathy +MONDO:0010188 familial isolated deficiency of vitamin E MONDO:0017760 Orphanet:96 Orphanet:309833 obsolete disorder of other vitamins and cofactors metabolism and transport +MONDO:0010188 familial isolated deficiency of vitamin E MONDO:0019058 Orphanet:96 Orphanet:68385 obsolete neurometabolic disease +MONDO:0010188 familial isolated deficiency of vitamin E MONDO:0020240 Orphanet:96 Orphanet:98661 obsolete syndromic retinitis pigmentosa +MONDO:0010191 von Willebrand disease 3 MONDO:8000031 Orphanet:166096 Orphanet:557494 obsolete subtype of a disorder +MONDO:0010193 Weaver syndrome MONDO:0035863 Orphanet:3447 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0010193 Weaver syndrome MONDO:0800091 Orphanet:3447 Orphanet:498448 obsolete overgrowth or tall stature syndrome with skeletal involvement +MONDO:0010193 Weaver syndrome MONDO:8000032 Orphanet:3447 Orphanet:377789 obsolete malformation syndrome +MONDO:0010196 Werner syndrome MONDO:0015329 Orphanet:902 Orphanet:139021 obsolete malformation syndrome with short stature +MONDO:0010196 Werner syndrome MONDO:0015331 Orphanet:902 Orphanet:139027 obsolete malformation syndrome with skin/mucosae involvement +MONDO:0010196 Werner syndrome MONDO:0015945 Orphanet:902 Orphanet:183422 obsolete polymalformative genetic syndrome with increased risk of developing cancer +MONDO:0010196 Werner syndrome MONDO:0020225 Orphanet:902 Orphanet:98641 obsolete syndromic cataract +MONDO:0010196 Werner syndrome MONDO:0026187 Orphanet:902 Orphanet:183570 obsolete genetic malformation syndrome with short stature +MONDO:0010196 Werner syndrome MONDO:0031689 Orphanet:902 Orphanet:363245 obsolete genetic progeroid syndrome +MONDO:0010199 white forelock with malformations MONDO:0015506 Orphanet:2475 Orphanet:156532 obsolete rare syndrome with cardiac malformations +MONDO:0010199 white forelock with malformations MONDO:0043008 Orphanet:2475 Orphanet:330206 obsolete genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability +MONDO:0010199 white forelock with malformations MONDO:8000032 Orphanet:2475 Orphanet:377789 obsolete malformation syndrome +MONDO:0010200 Wilson disease MONDO:0015115 Orphanet:905 Orphanet:101940 obsolete rare genetic metabolic liver disease +MONDO:0010200 Wilson disease MONDO:0016133 Orphanet:905 Orphanet:207018 obsolete rare hereditary metabolic disease with peripheral neuropathy +MONDO:0010200 Wilson disease MONDO:0016400 Orphanet:905 Orphanet:225692 obsolete metal transport or utilization disorder with epilepsy +MONDO:0010200 Wilson disease MONDO:0017644 Orphanet:905 Orphanet:306712 obsolete rare tremor disorder +MONDO:0010200 Wilson disease MONDO:0017663 Orphanet:905 Orphanet:307061 obsolete inherited tremor disorder +MONDO:0010200 Wilson disease MONDO:0018265 Orphanet:905 Orphanet:370106 obsolete rare disorder with dystonia and other neurologic or systemic manifestation +MONDO:0010200 Wilson disease MONDO:0019058 Orphanet:905 Orphanet:68385 obsolete neurometabolic disease +MONDO:0010200 Wilson disease MONDO:0019743 Orphanet:905 Orphanet:93593 obsolete nephropathy secondary to a storage or other metabolic disease +MONDO:0010200 Wilson disease MONDO:0020016 Orphanet:905 Orphanet:98033 obsolete rare neurologic disease with psychiatric involvement +MONDO:0010203 intellectual disability, Wolff type MONDO:0035863 Orphanet:3080 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0010203 intellectual disability, Wolff type MONDO:8000032 Orphanet:3080 Orphanet:377789 obsolete malformation syndrome +MONDO:0010208 wrinkly skin syndrome MONDO:8000031 Orphanet:2834 Orphanet:557494 obsolete subtype of a disorder +MONDO:0010209 xanthinuria type I MONDO:8000031 Orphanet:93601 Orphanet:557494 obsolete subtype of a disorder +MONDO:0010214 xeroderma pigmentosum variant type MONDO:0015331 Orphanet:90342 Orphanet:139027 obsolete malformation syndrome with skin/mucosae involvement +MONDO:0010214 xeroderma pigmentosum variant type MONDO:0015945 Orphanet:90342 Orphanet:183422 obsolete polymalformative genetic syndrome with increased risk of developing cancer +MONDO:0010214 xeroderma pigmentosum variant type MONDO:0019304 Orphanet:90342 Orphanet:79390 obsolete rare photodermatosis +MONDO:0010214 xeroderma pigmentosum variant type MONDO:0020162 Orphanet:90342 Orphanet:98571 obsolete secondary ectropion +MONDO:0010214 xeroderma pigmentosum variant type MONDO:0031689 Orphanet:90342 Orphanet:363245 obsolete genetic progeroid syndrome +MONDO:0010214 xeroderma pigmentosum variant type MONDO:0034926 Orphanet:90342 Orphanet:519270 obsolete rare disorder with entropion +MONDO:0010220 Young syndrome MONDO:0015118 Orphanet:3471 Orphanet:101944 obsolete rare pulmonary disease +MONDO:0010220 Young syndrome MONDO:0015510 Orphanet:3471 Orphanet:156610 obsolete rare genetic respiratory disease +MONDO:0010220 Young syndrome MONDO:0018396 Orphanet:3471 Orphanet:399824 obsolete rare male fertility disorder with obstructive azoospermia +MONDO:0010220 Young syndrome MONDO:0018409 Orphanet:3471 Orphanet:400003 obsolete rare genetic disorder with obstructive azoospermia +MONDO:0010221 CHIME syndrome MONDO:0018287 Orphanet:3474 Orphanet:371071 obsolete congenital disorder of glycosylation with epilepsy as a major feature +MONDO:0010221 CHIME syndrome MONDO:0018290 Orphanet:3474 Orphanet:371183 obsolete congenital disorder of glycosylation with cardiac malformation as a major feature +MONDO:0010221 CHIME syndrome MONDO:0018293 Orphanet:3474 Orphanet:371200 obsolete congenital disorder of glycosylation with skin involvement +MONDO:0010221 CHIME syndrome MONDO:0018295 Orphanet:3474 Orphanet:371212 obsolete congenital disorder of glycosylation with deafness as a major feature +MONDO:0010221 CHIME syndrome MONDO:0020253 Orphanet:3474 Orphanet:98683 obsolete syndrome with a symptomatic strabismus +MONDO:0010221 CHIME syndrome MONDO:0035863 Orphanet:3474 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0010221 CHIME syndrome MONDO:8000032 Orphanet:3474 Orphanet:377789 obsolete malformation syndrome +MONDO:0010224 corpus callosum agenesis-abnormal genitalia syndrome MONDO:0018496 Orphanet:2508 Orphanet:423655 obsolete ARX-related encephalopathy-brain malformation spectrum +MONDO:0010224 corpus callosum agenesis-abnormal genitalia syndrome MONDO:8000032 Orphanet:2508 Orphanet:377789 obsolete malformation syndrome +MONDO:0010225 Dent disease type 1 MONDO:8000031 Orphanet:93622 Orphanet:557494 obsolete subtype of a disorder +MONDO:0010235 X-linked intellectual disability-psychosis-macroorchidism syndrome MONDO:0035862 Orphanet:3077 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome +MONDO:0010235 X-linked intellectual disability-psychosis-macroorchidism syndrome MONDO:8000032 Orphanet:3077 Orphanet:377789 obsolete malformation syndrome +MONDO:0010237 X-linked intellectual disability-plagiocephaly syndrome MONDO:0035863 Orphanet:2898 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0010237 X-linked intellectual disability-plagiocephaly syndrome MONDO:8000032 Orphanet:2898 Orphanet:377789 obsolete malformation syndrome +MONDO:0010243 X-linked immunoneurologic disorder MONDO:0018038 Orphanet:2571 Orphanet:331232 obsolete immunodeficiency with isotype or light chain deficiencies with normal number of B-cells +MONDO:0010247 X-linked cerebral adrenoleukodystrophy MONDO:0035862 Orphanet:139396 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome +MONDO:0010247 X-linked cerebral adrenoleukodystrophy MONDO:8000031 Orphanet:139396 Orphanet:557494 obsolete subtype of a disorder +MONDO:0010250 intellectual disability, X-linked 49 MONDO:0035862 Orphanet:485350 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome +MONDO:0010258 MEHMO syndrome MONDO:0016402 Orphanet:85282 Orphanet:225700 obsolete mitochondrial disease with epilepsy +MONDO:0010258 MEHMO syndrome MONDO:0016403 Orphanet:85282 Orphanet:225703 obsolete mitochondrial disease with peripheral neuropathy +MONDO:0010258 MEHMO syndrome MONDO:0016565 Orphanet:85282 Orphanet:240371 obsolete syndromic genetic obesity +MONDO:0010258 MEHMO syndrome MONDO:0035863 Orphanet:85282 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0010258 MEHMO syndrome MONDO:8000032 Orphanet:85282 Orphanet:377789 obsolete malformation syndrome +MONDO:0010261 microphthalmia, syndromic 2 MONDO:0015336 Orphanet:2712 Orphanet:139042 obsolete malformation syndrome with odontal and/or periodontal component +MONDO:0010261 microphthalmia, syndromic 2 MONDO:0020222 Orphanet:2712 Orphanet:98638 obsolete rare disease with glaucoma as a major feature +MONDO:0010261 microphthalmia, syndromic 2 MONDO:0020225 Orphanet:2712 Orphanet:98641 obsolete syndromic cataract +MONDO:0010261 microphthalmia, syndromic 2 MONDO:0026190 Orphanet:2712 Orphanet:183580 obsolete genetic malformation syndrome with odontal and/or periodontal component +MONDO:0010261 microphthalmia, syndromic 2 MONDO:0035863 Orphanet:2712 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0010261 microphthalmia, syndromic 2 MONDO:8000032 Orphanet:2712 Orphanet:377789 obsolete malformation syndrome +MONDO:0010263 Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome MONDO:0015910 Orphanet:86818 Orphanet:182043 obsolete rare constitutional hemolytic anemia +MONDO:0010263 Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome MONDO:0035863 Orphanet:86818 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0010264 X-linked adrenal hypoplasia congenita MONDO:0015891 Orphanet:95702 Orphanet:181390 obsolete hypogonadotropic hypogonadism associated with other endocrinopathies +MONDO:0010264 X-linked adrenal hypoplasia congenita MONDO:0035683 Orphanet:95702 Orphanet:595337 obsolete adrenal hypoplasia congenita +MONDO:0010268 X-linked lissencephaly with abnormal genitalia MONDO:0015147 Orphanet:452 Orphanet:102010 obsolete other syndrome with lissencephaly as a major feature +MONDO:0010268 X-linked lissencephaly with abnormal genitalia MONDO:0018496 Orphanet:452 Orphanet:423655 obsolete ARX-related encephalopathy-brain malformation spectrum +MONDO:0010268 X-linked lissencephaly with abnormal genitalia MONDO:0020042 Orphanet:452 Orphanet:98087 obsolete syndrome with 46,XY disorder of sex development +MONDO:0010268 X-linked lissencephaly with abnormal genitalia MONDO:8000032 Orphanet:452 Orphanet:377789 obsolete malformation syndrome +MONDO:0010269 Coats disease MONDO:0015953 Orphanet:190 Orphanet:183503 obsolete genetic central nervous system and retinal vascular disease +MONDO:0010269 Coats disease MONDO:0019110 Orphanet:190 Orphanet:71281 obsolete rare central nervous system or retinal vascular disease +MONDO:0010269 Coats disease MONDO:0020216 Orphanet:190 Orphanet:98631 obsolete secondary dysgenetic glaucoma +MONDO:0010269 Coats disease MONDO:0020253 Orphanet:190 Orphanet:98683 obsolete syndrome with a symptomatic strabismus +MONDO:0010269 Coats disease MONDO:0034943 Orphanet:190 Orphanet:519304 obsolete isolated vitreoretinopathy +MONDO:0010270 syndromic X-linked intellectual disability 7 MONDO:0035863 Orphanet:85274 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0010270 syndromic X-linked intellectual disability 7 MONDO:8000032 Orphanet:85274 Orphanet:377789 obsolete malformation syndrome +MONDO:0010271 X-linked myotubular myopathy-abnormal genitalia syndrome MONDO:0016154 Orphanet:456328 Orphanet:207110 obsolete qualitative or quantitative defects of myotubularin +MONDO:0010271 X-linked myotubular myopathy-abnormal genitalia syndrome MONDO:0020042 Orphanet:456328 Orphanet:98087 obsolete syndrome with 46,XY disorder of sex development +MONDO:0010271 X-linked myotubular myopathy-abnormal genitalia syndrome MONDO:0035862 Orphanet:456328 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome +MONDO:0010275 spondyloepimetaphyseal dysplasia, Bieganski type MONDO:0015918 Orphanet:83629 Orphanet:182070 obsolete rare neurodegenerative disease +MONDO:0010277 syndromic X-linked intellectual disability Shashi type MONDO:0035863 Orphanet:85286 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0010277 syndromic X-linked intellectual disability Shashi type MONDO:8000032 Orphanet:85286 Orphanet:377789 obsolete malformation syndrome +MONDO:0010278 Christianson syndrome MONDO:0015655 Orphanet:85278 Orphanet:166478 obsolete cerebral malformation with epilepsy +MONDO:0010278 Christianson syndrome MONDO:0020253 Orphanet:85278 Orphanet:98683 obsolete syndrome with a symptomatic strabismus +MONDO:0010278 Christianson syndrome MONDO:0035863 Orphanet:85278 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0010278 Christianson syndrome MONDO:8000032 Orphanet:85278 Orphanet:377789 obsolete malformation syndrome +MONDO:0010279 terminal osseous dysplasia-pigmentary defects syndrome MONDO:8000032 Orphanet:88630 Orphanet:377789 obsolete malformation syndrome +MONDO:0010281 Danon disease MONDO:0016118 Orphanet:34587 Orphanet:206959 obsolete muscular glycogenosis +MONDO:0010281 Danon disease MONDO:0016325 Orphanet:34587 Orphanet:217572 obsolete glycogen storage disease with hypertrophic cardiomyopathy +MONDO:0010281 Danon disease MONDO:0035862 Orphanet:34587 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome +MONDO:0010283 syndromic X-linked intellectual disability Lubs type MONDO:0035863 Orphanet:1762 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0010283 syndromic X-linked intellectual disability Lubs type MONDO:8000032 Orphanet:1762 Orphanet:377789 obsolete malformation syndrome +MONDO:0010284 Armfield syndrome MONDO:0020225 Orphanet:85276 Orphanet:98641 obsolete syndromic cataract +MONDO:0010284 Armfield syndrome MONDO:0035863 Orphanet:85276 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0010284 Armfield syndrome MONDO:8000032 Orphanet:85276 Orphanet:377789 obsolete malformation syndrome +MONDO:0010285 syndromic X-linked intellectual disability Abidi type MONDO:0035863 Orphanet:85273 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0010285 syndromic X-linked intellectual disability Abidi type MONDO:8000032 Orphanet:85273 Orphanet:377789 obsolete malformation syndrome +MONDO:0010286 syndromic X-linked intellectual disability Siderius type MONDO:0035863 Orphanet:85287 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0010286 syndromic X-linked intellectual disability Siderius type MONDO:8000032 Orphanet:85287 Orphanet:377789 obsolete malformation syndrome +MONDO:0010287 hereditary spastic paraplegia 16 MONDO:0017916 Orphanet:100997 Orphanet:320350 obsolete pure or complex X-linked spastic paraplegia +MONDO:0010288 adrenomyodystrophy MONDO:0020999 Orphanet:977 Orphanet:101960 obsolete genetic chronic primary adrenal insufficiency +MONDO:0010293 ectodermal dysplasia and immune deficiency MONDO:0018035 Orphanet:98813 Orphanet:331217 obsolete syndrome with combined immunodeficiency +MONDO:0010293 ectodermal dysplasia and immune deficiency MONDO:0020014 Orphanet:98813 Orphanet:98027 obsolete rare disease with odontological manifestation +MONDO:0010293 ectodermal dysplasia and immune deficiency MONDO:0020194 Orphanet:98813 Orphanet:98604 obsolete congenital alacrima +MONDO:0010295 anhidrotic ectodermal dysplasia-immunodeficiency-osteopetrosis-lymphedema syndrome MONDO:0018035 Orphanet:69088 Orphanet:331217 obsolete syndrome with combined immunodeficiency +MONDO:0010295 anhidrotic ectodermal dysplasia-immunodeficiency-osteopetrosis-lymphedema syndrome MONDO:0035471 Orphanet:69088 Orphanet:568047 obsolete disorder with multisystemic involvement and primary lymphedema +MONDO:0010305 creatine transporter deficiency MONDO:0019058 Orphanet:52503 Orphanet:68385 obsolete neurometabolic disease +MONDO:0010305 creatine transporter deficiency MONDO:0035863 Orphanet:52503 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0010306 X-linked intellectual disability, Cabezas type MONDO:0035863 Orphanet:85293 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0010306 X-linked intellectual disability, Cabezas type MONDO:8000032 Orphanet:85293 Orphanet:377789 obsolete malformation syndrome +MONDO:0010310 osteopathia striata with cranial sclerosis MONDO:0020018 Orphanet:2780 Orphanet:98038 obsolete cranial malformation +MONDO:0010310 osteopathia striata with cranial sclerosis MONDO:0026182 Orphanet:2780 Orphanet:183542 obsolete genetic cranial malformation +MONDO:0010310 osteopathia striata with cranial sclerosis MONDO:0035862 Orphanet:2780 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome +MONDO:0010310 osteopathia striata with cranial sclerosis MONDO:8000032 Orphanet:2780 Orphanet:377789 obsolete malformation syndrome +MONDO:0010311 Becker muscular dystrophy MONDO:0016899 Orphanet:98895 Orphanet:262 obsolete Duchenne and Becker muscular dystrophy +MONDO:0010323 Atkin-Flaitz syndrome MONDO:0035863 Orphanet:1193 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0010323 Atkin-Flaitz syndrome MONDO:8000032 Orphanet:1193 Orphanet:377789 obsolete malformation syndrome +MONDO:0010325 X-linked intellectual disability, Stocco dos Santos type MONDO:0035863 Orphanet:85288 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0010325 X-linked intellectual disability, Stocco dos Santos type MONDO:8000032 Orphanet:85288 Orphanet:377789 obsolete malformation syndrome +MONDO:0010327 HSD10 mitochondrial disease MONDO:0019058 Orphanet:391417 Orphanet:68385 obsolete neurometabolic disease +MONDO:0010327 HSD10 mitochondrial disease MONDO:0019213 Orphanet:391417 Orphanet:79158 obsolete cerebral organic aciduria +MONDO:0010327 HSD10 mitochondrial disease MONDO:0035862 Orphanet:391417 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome +MONDO:0010328 alpha-thalassemia-myelodysplastic syndrome MONDO:0016513 Orphanet:231401 Orphanet:232288 obsolete alpha-thalassemia-related diseases MONDO:0010330 obsolete primary ciliary dyskinesia-retinitis pigmentosa syndrome MONDO:0000001 Orphanet:247522 Orphanet:377788 disease +MONDO:0010330 obsolete primary ciliary dyskinesia-retinitis pigmentosa syndrome MONDO:0015118 Orphanet:247522 Orphanet:101944 obsolete rare pulmonary disease +MONDO:0010330 obsolete primary ciliary dyskinesia-retinitis pigmentosa syndrome MONDO:0015510 Orphanet:247522 Orphanet:156610 obsolete rare genetic respiratory disease +MONDO:0010330 obsolete primary ciliary dyskinesia-retinitis pigmentosa syndrome MONDO:0020240 Orphanet:247522 Orphanet:98661 obsolete syndromic retinitis pigmentosa +MONDO:0010332 X-linked intellectual disability-cubitus valgus-dysmorphism syndrome MONDO:0035863 Orphanet:85280 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0010332 X-linked intellectual disability-cubitus valgus-dysmorphism syndrome MONDO:8000032 Orphanet:85280 Orphanet:377789 obsolete malformation syndrome +MONDO:0010333 corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome MONDO:0016055 Orphanet:52055 Orphanet:199639 obsolete syndrome with corpus callosum agenesis /dysgenesis as a major feature +MONDO:0010333 corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome MONDO:0017122 Orphanet:52055 Orphanet:269573 obsolete genetic syndrome with corpus callosum agenesis/dysgenesis as a major feature +MONDO:0010333 corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome MONDO:0035863 Orphanet:52055 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0010333 corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome MONDO:8000032 Orphanet:52055 Orphanet:377789 obsolete malformation syndrome +MONDO:0010334 severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome MONDO:0018265 Orphanet:369939 Orphanet:370106 obsolete rare disorder with dystonia and other neurologic or systemic manifestation +MONDO:0010334 severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome MONDO:0019589 Orphanet:369939 Orphanet:90642 obsolete syndromic genetic hearing loss +MONDO:0010334 severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome MONDO:0035863 Orphanet:369939 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0010334 severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome MONDO:8000032 Orphanet:369939 Orphanet:377789 obsolete malformation syndrome +MONDO:0010336 orofaciodigital syndrome VIII MONDO:0019589 Orphanet:2755 Orphanet:90642 obsolete syndromic genetic hearing loss +MONDO:0010336 orofaciodigital syndrome VIII MONDO:8000032 Orphanet:2755 Orphanet:377789 obsolete malformation syndrome +MONDO:0010337 X-linked intellectual disability-cerebellar hypoplasia syndrome MONDO:0015655 Orphanet:137831 Orphanet:166478 obsolete cerebral malformation with epilepsy +MONDO:0010337 X-linked intellectual disability-cerebellar hypoplasia syndrome MONDO:0017118 Orphanet:137831 Orphanet:269523 obsolete syndrome with a cerebellar malformation as major feature +MONDO:0010337 X-linked intellectual disability-cerebellar hypoplasia syndrome MONDO:0035863 Orphanet:137831 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0010338 X-linked distal spinal muscular atrophy type 3 MONDO:0018451 Orphanet:139557 Orphanet:404538 obsolete X-linked distal hereditary motor neuropathy +MONDO:0010339 epilepsy, X-linked 1, with variable learning disabilities and behavior disorders MONDO:0035862 Orphanet:85294 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome +MONDO:0010353 deafness-intellectual disability, Martin-Probst type syndrome MONDO:0019589 Orphanet:85321 Orphanet:90642 obsolete syndromic genetic hearing loss +MONDO:0010353 deafness-intellectual disability, Martin-Probst type syndrome MONDO:0020225 Orphanet:85321 Orphanet:98641 obsolete syndromic cataract +MONDO:0010353 deafness-intellectual disability, Martin-Probst type syndrome MONDO:0035863 Orphanet:85321 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0010353 deafness-intellectual disability, Martin-Probst type syndrome MONDO:8000032 Orphanet:85321 Orphanet:377789 obsolete malformation syndrome +MONDO:0010354 Allan-Herndon-Dudley syndrome MONDO:0017916 Orphanet:59 Orphanet:320350 obsolete pure or complex X-linked spastic paraplegia +MONDO:0010354 Allan-Herndon-Dudley syndrome MONDO:0035689 Orphanet:59 Orphanet:596426 obsolete syndrome of reduced sensitivity to thyroid hormone +MONDO:0010354 Allan-Herndon-Dudley syndrome MONDO:0035862 Orphanet:59 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome +MONDO:0010355 syndromic X-linked intellectual disability Claes-Jensen type MONDO:0035863 Orphanet:85279 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0010355 syndromic X-linked intellectual disability Claes-Jensen type MONDO:8000032 Orphanet:85279 Orphanet:377789 obsolete malformation syndrome +MONDO:0010356 nephrogenic syndrome of inappropriate antidiuresis MONDO:0019744 Orphanet:93606 Orphanet:93603 obsolete rare renal tubular disease +MONDO:0010359 Dent disease type 2 MONDO:8000031 Orphanet:93623 Orphanet:557494 obsolete subtype of a disorder +MONDO:0010362 glycogen storage disease IXd MONDO:0016118 Orphanet:715 Orphanet:206959 obsolete muscular glycogenosis +MONDO:0010362 glycogen storage disease IXd MONDO:0018251 Orphanet:715 Orphanet:370 obsolete glycogen storage disease due to phosphorylase kinase deficiency +MONDO:0010364 X-linked intellectual disability-retinitis pigmentosa syndrome MONDO:0020240 Orphanet:85332 Orphanet:98661 obsolete syndromic retinitis pigmentosa +MONDO:0010364 X-linked intellectual disability-retinitis pigmentosa syndrome MONDO:0035862 Orphanet:85332 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome +MONDO:0010367 SHOX-related short stature MONDO:0019697 Orphanet:314795 Orphanet:93438 obsolete mesomelic and rhizo-mesomelic dysplasia +MONDO:0010375 developmental and epileptic encephalopathy, 8 MONDO:0015957 Orphanet:163985 Orphanet:183521 obsolete rare genetic movement disorder +MONDO:0010379 Brunner syndrome MONDO:0019058 Orphanet:3057 Orphanet:68385 obsolete neurometabolic disease +MONDO:0010379 Brunner syndrome MONDO:0035862 Orphanet:3057 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome +MONDO:0010382 fragile X-associated tremor/ataxia syndrome MONDO:0017644 Orphanet:93256 Orphanet:306712 obsolete rare tremor disorder +MONDO:0010382 fragile X-associated tremor/ataxia syndrome MONDO:0017663 Orphanet:93256 Orphanet:307061 obsolete inherited tremor disorder +MONDO:0010382 fragile X-associated tremor/ataxia syndrome MONDO:8000032 Orphanet:93256 Orphanet:377789 obsolete malformation syndrome +MONDO:0010383 fragile X syndrome MONDO:0015652 Orphanet:908 Orphanet:166469 obsolete chromosomal anomaly with epilepsy as a major feature +MONDO:0010383 fragile X syndrome MONDO:0015878 Orphanet:908 Orphanet:180772 obsolete rare disease with autism +MONDO:0010383 fragile X syndrome MONDO:0016565 Orphanet:908 Orphanet:240371 obsolete syndromic genetic obesity +MONDO:0010383 fragile X syndrome MONDO:0017656 Orphanet:908 Orphanet:306765 obsolete motor stereotypies +MONDO:0010383 fragile X syndrome MONDO:0020253 Orphanet:908 Orphanet:98683 obsolete syndrome with a symptomatic strabismus +MONDO:0010383 fragile X syndrome MONDO:0035863 Orphanet:908 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0010383 fragile X syndrome MONDO:8000032 Orphanet:908 Orphanet:377789 obsolete malformation syndrome +MONDO:0010385 X-linked lymphoproliferative disease due to XIAP deficiency MONDO:0015187 Orphanet:538934 Orphanet:104012 obsolete rare inflammatory bowel disease +MONDO:0010385 X-linked lymphoproliferative disease due to XIAP deficiency MONDO:0015616 Orphanet:538934 Orphanet:165655 obsolete rare genetic intestinal disease +MONDO:0010386 immunodeficiency 33 MONDO:8000031 Orphanet:319612 Orphanet:557494 obsolete subtype of a disorder +MONDO:0010389 X-linked Mendelian susceptibility to mycobacterial diseases due to CYBB deficiency MONDO:8000031 Orphanet:319623 Orphanet:557494 obsolete subtype of a disorder +MONDO:0010390 ocular albinism with late-onset sensorineural deafness MONDO:0019589 Orphanet:1000 Orphanet:90642 obsolete syndromic genetic hearing loss +MONDO:0010392 glycogen storage disease due to phosphoglycerate kinase 1 deficiency MONDO:0016118 Orphanet:713 Orphanet:206959 obsolete muscular glycogenosis +MONDO:0010392 glycogen storage disease due to phosphoglycerate kinase 1 deficiency MONDO:0020106 Orphanet:713 Orphanet:98372 obsolete hemolytic anemia due to a disorder of glycolytic enzymes +MONDO:0010392 glycogen storage disease due to phosphoglycerate kinase 1 deficiency MONDO:0035862 Orphanet:713 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome +MONDO:0010395 phosphoribosylpyrophosphate synthetase superactivity MONDO:0019743 Orphanet:3222 Orphanet:93593 obsolete nephropathy secondary to a storage or other metabolic disease +MONDO:0010395 phosphoribosylpyrophosphate synthetase superactivity MONDO:0035862 Orphanet:3222 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome +MONDO:0010396 developmental and epileptic encephalopathy, 2 MONDO:0015680 Orphanet:505652 Orphanet:168778 obsolete rare pervasive developmental disorder +MONDO:0010396 developmental and epileptic encephalopathy, 2 MONDO:0017656 Orphanet:505652 Orphanet:306765 obsolete motor stereotypies +MONDO:0010396 developmental and epileptic encephalopathy, 2 MONDO:0035862 Orphanet:505652 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome +MONDO:0010399 chromosome Xp21 deletion syndrome MONDO:0035683 Orphanet:261476 Orphanet:595337 obsolete adrenal hypoplasia congenita +MONDO:0010400 X-linked scapuloperoneal muscular dystrophy MONDO:0018549 Orphanet:431272 Orphanet:431263 obsolete late-onset scapuloperoneal muscular dystrophy with hyaline bodies +MONDO:0010403 albinism-hearing loss syndrome MONDO:0019589 Orphanet:998 Orphanet:90642 obsolete syndromic genetic hearing loss +MONDO:0010403 albinism-hearing loss syndrome MONDO:8000032 Orphanet:998 Orphanet:377789 obsolete malformation syndrome +MONDO:0010408 syndactyly-telecanthus-anogenital and renal malformations syndrome MONDO:0015246 Orphanet:140952 Orphanet:117573 obsolete syndromic anorectal malformation +MONDO:0010408 syndactyly-telecanthus-anogenital and renal malformations syndrome MONDO:0017434 Orphanet:140952 Orphanet:294959 obsolete syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy +MONDO:0010408 syndactyly-telecanthus-anogenital and renal malformations syndrome MONDO:0043008 Orphanet:140952 Orphanet:330206 obsolete genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability +MONDO:0010408 syndactyly-telecanthus-anogenital and renal malformations syndrome MONDO:8000032 Orphanet:140952 Orphanet:377789 obsolete malformation syndrome +MONDO:0010409 syndromic X-linked intellectual disability Shrimpton type MONDO:0035863 Orphanet:85324 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0010409 syndromic X-linked intellectual disability Shrimpton type MONDO:8000032 Orphanet:85324 Orphanet:377789 obsolete malformation syndrome +MONDO:0010412 X-linked intellectual disability-craniofacioskeletal syndrome MONDO:0035863 Orphanet:163979 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0010417 syndromic X-linked intellectual disability Najm type MONDO:0017118 Orphanet:163937 Orphanet:269523 obsolete syndrome with a cerebellar malformation as major feature +MONDO:0010417 syndromic X-linked intellectual disability Najm type MONDO:0020225 Orphanet:163937 Orphanet:98641 obsolete syndromic cataract +MONDO:0010417 syndromic X-linked intellectual disability Najm type MONDO:0035863 Orphanet:163937 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0010418 hereditary spastic paraplegia 34 MONDO:0017912 Orphanet:171607 Orphanet:320332 obsolete X-linked pure spastic paraplegia +MONDO:0010420 X-linked erythropoietic protoporphyria MONDO:0015115 Orphanet:443197 Orphanet:101940 obsolete rare genetic metabolic liver disease +MONDO:0010421 Bruton-type agammaglobulinemia MONDO:8000031 Orphanet:47 Orphanet:557494 obsolete subtype of a disorder +MONDO:0010428 chromosome Xp11.23-p11.22 duplication syndrome MONDO:0015652 Orphanet:217377 Orphanet:166469 obsolete chromosomal anomaly with epilepsy as a major feature +MONDO:0010428 chromosome Xp11.23-p11.22 duplication syndrome MONDO:0035863 Orphanet:217377 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0010428 chromosome Xp11.23-p11.22 duplication syndrome MONDO:8000032 Orphanet:217377 Orphanet:377789 obsolete malformation syndrome +MONDO:0010437 severe X-linked mitochondrial encephalomyopathy MONDO:0018157 Orphanet:238329 Orphanet:35696 obsolete mitochondrial disorder due to a defect in mitochondrial protein synthesis +MONDO:0010437 severe X-linked mitochondrial encephalomyopathy MONDO:0019058 Orphanet:238329 Orphanet:68385 obsolete neurometabolic disease +MONDO:0010437 severe X-linked mitochondrial encephalomyopathy MONDO:0035862 Orphanet:238329 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome +MONDO:0010441 CK syndrome MONDO:0017120 Orphanet:251383 Orphanet:269531 obsolete other syndrome with a central nervous system malformation as major feature +MONDO:0010441 CK syndrome MONDO:0035862 Orphanet:251383 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome +MONDO:0010441 CK syndrome MONDO:8000032 Orphanet:251383 Orphanet:377789 obsolete malformation syndrome +MONDO:0010444 X-linked dyserythropoetic anemia with abnormal platelets and neutropenia MONDO:0016361 Orphanet:363727 Orphanet:220452 obsolete isolated hereditary giant platelet disorder +MONDO:0010448 moyamoya angiopathy-short stature-facial dysmorphism-hypergonadotropic hypogonadism syndrome MONDO:0015906 Orphanet:280679 Orphanet:181441 obsolete rare disorder with hypergonadotropic hypogonadism +MONDO:0010448 moyamoya angiopathy-short stature-facial dysmorphism-hypergonadotropic hypogonadism syndrome MONDO:0018792 Orphanet:280679 Orphanet:477771 obsolete Moyamoya syndrome +MONDO:0010448 moyamoya angiopathy-short stature-facial dysmorphism-hypergonadotropic hypogonadism syndrome MONDO:0035863 Orphanet:280679 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0010457 Ogden syndrome MONDO:0031689 Orphanet:276432 Orphanet:363245 obsolete genetic progeroid syndrome +MONDO:0010457 Ogden syndrome MONDO:0035863 Orphanet:276432 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0010457 Ogden syndrome MONDO:8000032 Orphanet:276432 Orphanet:377789 obsolete malformation syndrome +MONDO:0010460 syndromic X-linked intellectual disability 17 MONDO:0020194 Orphanet:289483 Orphanet:98604 obsolete congenital alacrima +MONDO:0010460 syndromic X-linked intellectual disability 17 MONDO:0035862 Orphanet:289483 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome +MONDO:0010461 syndromic X-linked intellectual disability Nascimento type MONDO:0035863 Orphanet:163956 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0010463 X-linked dominant chondrodysplasia, Chassaing-Lacombe type MONDO:0019697 Orphanet:163966 Orphanet:93438 obsolete mesomelic and rhizo-mesomelic dysplasia +MONDO:0010463 X-linked dominant chondrodysplasia, Chassaing-Lacombe type MONDO:0035863 Orphanet:163966 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0010464 X-linked cerebral-cerebellar-coloboma syndrome syndrome MONDO:0017118 Orphanet:163961 Orphanet:269523 obsolete syndrome with a cerebellar malformation as major feature +MONDO:0010464 X-linked cerebral-cerebellar-coloboma syndrome syndrome MONDO:0035863 Orphanet:163961 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0010466 multiple congenital anomalies-hypotonia-seizures syndrome 2 MONDO:0018287 Orphanet:300496 Orphanet:371071 obsolete congenital disorder of glycosylation with epilepsy as a major feature +MONDO:0010466 multiple congenital anomalies-hypotonia-seizures syndrome 2 MONDO:0018296 Orphanet:300496 Orphanet:371235 obsolete congenital disorder of glycosylation with developmental anomaly +MONDO:0010466 multiple congenital anomalies-hypotonia-seizures syndrome 2 MONDO:0035863 Orphanet:300496 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0010466 multiple congenital anomalies-hypotonia-seizures syndrome 2 MONDO:8000032 Orphanet:300496 Orphanet:377789 obsolete malformation syndrome +MONDO:0010467 Xq27.3q28 duplication syndrome MONDO:8000032 Orphanet:261483 Orphanet:377789 obsolete malformation syndrome +MONDO:0010472 developmental and epileptic encephalopathy, 36 MONDO:0018287 Orphanet:324422 Orphanet:371071 obsolete congenital disorder of glycosylation with epilepsy as a major feature +MONDO:0010472 developmental and epileptic encephalopathy, 36 MONDO:0018288 Orphanet:324422 Orphanet:371157 obsolete congenital disorder of glycosylation with hepatic involvement +MONDO:0010472 developmental and epileptic encephalopathy, 36 MONDO:0035862 Orphanet:324422 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome +MONDO:0010473 X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome MONDO:0015110 Orphanet:324410 Orphanet:101934 obsolete genetic cardiac rhythm disease +MONDO:0010473 X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome MONDO:0035862 Orphanet:324410 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome +MONDO:0010476 neurodegeneration with brain iron accumulation 5 MONDO:0035862 Orphanet:329284 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome +MONDO:0010477 blepharophimosis - intellectual disability syndrome, MKB type MONDO:8000032 Orphanet:293707 Orphanet:377789 obsolete malformation syndrome +MONDO:0010478 SLC35A2-congenital disorder of glycosylation MONDO:0017120 Orphanet:356961 Orphanet:269531 obsolete other syndrome with a central nervous system malformation as major feature +MONDO:0010478 SLC35A2-congenital disorder of glycosylation MONDO:0018287 Orphanet:356961 Orphanet:371071 obsolete congenital disorder of glycosylation with epilepsy as a major feature +MONDO:0010478 SLC35A2-congenital disorder of glycosylation MONDO:0018296 Orphanet:356961 Orphanet:371235 obsolete congenital disorder of glycosylation with developmental anomaly +MONDO:0010478 SLC35A2-congenital disorder of glycosylation MONDO:0035862 Orphanet:356961 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome +MONDO:0010480 anemia, nonspherocytic hemolytic, due to G6PD deficiency MONDO:0020106 Orphanet:466026 Orphanet:98372 obsolete hemolytic anemia due to a disorder of glycolytic enzymes +MONDO:0010482 X-linked parkinsonism-spasticity syndrome MONDO:0017635 Orphanet:363654 Orphanet:306666 obsolete parkinsonian syndrome due to neurodegenerative disease +MONDO:0010482 X-linked parkinsonism-spasticity syndrome MONDO:0017661 Orphanet:363654 Orphanet:307055 obsolete rare parkinsonian syndrome due to genetic neurodegenerative disease +MONDO:0010483 X-linked intellectual disability, Cantagrel type MONDO:0035862 Orphanet:85277 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome +MONDO:0010483 X-linked intellectual disability, Cantagrel type MONDO:8000032 Orphanet:85277 Orphanet:377789 obsolete malformation syndrome +MONDO:0010485 X-linked colobomatous microphthalmia-microcephaly-intellectual disability-short stature syndrome MONDO:0015329 Orphanet:431140 Orphanet:139021 obsolete malformation syndrome with short stature +MONDO:0010485 X-linked colobomatous microphthalmia-microcephaly-intellectual disability-short stature syndrome MONDO:0026187 Orphanet:431140 Orphanet:183570 obsolete genetic malformation syndrome with short stature +MONDO:0010485 X-linked colobomatous microphthalmia-microcephaly-intellectual disability-short stature syndrome MONDO:0035863 Orphanet:431140 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0010485 X-linked colobomatous microphthalmia-microcephaly-intellectual disability-short stature syndrome MONDO:8000032 Orphanet:431140 Orphanet:377789 obsolete malformation syndrome +MONDO:0010490 SSR4-congenital disorder of glycosylation MONDO:0018287 Orphanet:370927 Orphanet:371071 obsolete congenital disorder of glycosylation with epilepsy as a major feature +MONDO:0010490 SSR4-congenital disorder of glycosylation MONDO:0035863 Orphanet:370927 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0010496 X-linked intellectual disability-short stature-overweight syndrome MONDO:0015329 Orphanet:457240 Orphanet:139021 obsolete malformation syndrome with short stature +MONDO:0010496 X-linked intellectual disability-short stature-overweight syndrome MONDO:0026187 Orphanet:457240 Orphanet:183570 obsolete genetic malformation syndrome with short stature +MONDO:0010496 X-linked intellectual disability-short stature-overweight syndrome MONDO:0035863 Orphanet:457240 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0010496 X-linked intellectual disability-short stature-overweight syndrome MONDO:8000032 Orphanet:457240 Orphanet:377789 obsolete malformation syndrome +MONDO:0010498 MEND syndrome MONDO:0035863 Orphanet:401973 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0010498 MEND syndrome MONDO:8000032 Orphanet:401973 Orphanet:377789 obsolete malformation syndrome +MONDO:0010501 syndromic X-linked intellectual disability 34 MONDO:0035863 Orphanet:466791 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0010501 syndromic X-linked intellectual disability 34 MONDO:8000032 Orphanet:466791 Orphanet:377789 obsolete malformation syndrome +MONDO:0010503 Bartter disease type 5 MONDO:8000031 Orphanet:570371 Orphanet:557494 obsolete subtype of a disorder +MONDO:0010505 intellectual disability-balding-patella luxation-acromicria syndrome MONDO:0035863 Orphanet:3041 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0010505 intellectual disability-balding-patella luxation-acromicria syndrome MONDO:8000032 Orphanet:3041 Orphanet:377789 obsolete malformation syndrome +MONDO:0010507 Xq25 microduplication syndrome MONDO:0035863 Orphanet:521258 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0010507 Xq25 microduplication syndrome MONDO:8000032 Orphanet:521258 Orphanet:377789 obsolete malformation syndrome +MONDO:0010518 Wiskott-Aldrich syndrome MONDO:0015945 Orphanet:906 Orphanet:183422 obsolete polymalformative genetic syndrome with increased risk of developing cancer +MONDO:0010518 Wiskott-Aldrich syndrome MONDO:0018035 Orphanet:906 Orphanet:331217 obsolete syndrome with combined immunodeficiency +MONDO:0010518 Wiskott-Aldrich syndrome MONDO:0019305 Orphanet:906 Orphanet:79391 obsolete immune deficiency with skin involvement +MONDO:0010518 Wiskott-Aldrich syndrome MONDO:0020118 Orphanet:906 Orphanet:98456 obsolete dense granule disease +MONDO:0010518 Wiskott-Aldrich syndrome MONDO:0026166 Orphanet:906 Orphanet:183494 obsolete genetic immune deficiency with skin involvement +MONDO:0010519 alpha thalassemia-X-linked intellectual disability syndrome MONDO:0016513 Orphanet:847 Orphanet:232288 obsolete alpha-thalassemia-related diseases +MONDO:0010519 alpha thalassemia-X-linked intellectual disability syndrome MONDO:0017978 Orphanet:847 Orphanet:325638 obsolete syndrome with disorder of sex development of gynecological interest +MONDO:0010519 alpha thalassemia-X-linked intellectual disability syndrome MONDO:0020042 Orphanet:847 Orphanet:98087 obsolete syndrome with 46,XY disorder of sex development +MONDO:0010519 alpha thalassemia-X-linked intellectual disability syndrome MONDO:0035863 Orphanet:847 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0010519 alpha thalassemia-X-linked intellectual disability syndrome MONDO:8000032 Orphanet:847 Orphanet:377789 obsolete malformation syndrome +MONDO:0010520 X-linked Alport syndrome MONDO:8000031 Orphanet:88917 Orphanet:557494 obsolete subtype of a disorder +MONDO:0010523 X-linked reticulate pigmentary disorder MONDO:0015710 Orphanet:85453 Orphanet:169361 obsolete immune dysregulation disease with immunodeficiency +MONDO:0010523 X-linked reticulate pigmentary disorder MONDO:0018782 Orphanet:85453 Orphanet:477647 obsolete type 1 interferonopathy +MONDO:0010523 X-linked reticulate pigmentary disorder MONDO:0020215 Orphanet:85453 Orphanet:98628 obsolete syndromic corneal dystrophy +MONDO:0010524 X-linked sideroblastic anemia with ataxia MONDO:0016803 Orphanet:2802 Orphanet:254837 obsolete unspecified inborn mitochondrial disorder +MONDO:0010526 Fabry disease MONDO:0015948 Orphanet:324 Orphanet:183478 obsolete rare genetic skin vascular disorder +MONDO:0010526 Fabry disease MONDO:0016133 Orphanet:324 Orphanet:207018 obsolete rare hereditary metabolic disease with peripheral neuropathy +MONDO:0010526 Fabry disease MONDO:0016326 Orphanet:324 Orphanet:217581 obsolete lysosomal disease with hypertrophic cardiomyopathy +MONDO:0010526 Fabry disease MONDO:0016341 Orphanet:324 Orphanet:217638 obsolete lysosomal disease with restrictive cardiomyopathy +MONDO:0010526 Fabry disease MONDO:0018299 Orphanet:324 Orphanet:371442 obsolete sphingolipidosis with epilepsy +MONDO:0010526 Fabry disease MONDO:0019743 Orphanet:324 Orphanet:93593 obsolete nephropathy secondary to a storage or other metabolic disease +MONDO:0010526 Fabry disease MONDO:0020228 Orphanet:324 Orphanet:98644 obsolete cataract associated with a metabolic disease +MONDO:0010526 Fabry disease MONDO:0035471 Orphanet:324 Orphanet:568047 obsolete disorder with multisystemic involvement and primary lymphedema +MONDO:0010529 X-linked spinocerebellar ataxia type 3 MONDO:0035863 Orphanet:85297 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0010529 X-linked spinocerebellar ataxia type 3 MONDO:8000032 Orphanet:85297 Orphanet:377789 obsolete malformation syndrome +MONDO:0010531 contractures-ectodermal dysplasia-cleft lip/palate syndrome MONDO:0015335 Orphanet:1484 Orphanet:139039 obsolete Mendelian syndromes with cleft lip/palate +MONDO:0010531 contractures-ectodermal dysplasia-cleft lip/palate syndrome MONDO:0035863 Orphanet:1484 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0010531 contractures-ectodermal dysplasia-cleft lip/palate syndrome MONDO:8000032 Orphanet:1484 Orphanet:377789 obsolete malformation syndrome +MONDO:0010532 infantile-onset X-linked spinal muscular atrophy MONDO:0018451 Orphanet:1145 Orphanet:404538 obsolete X-linked distal hereditary motor neuropathy +MONDO:0010533 Arts syndrome MONDO:0019589 Orphanet:1187 Orphanet:90642 obsolete syndromic genetic hearing loss +MONDO:0010533 Arts syndrome MONDO:0035862 Orphanet:1187 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome +MONDO:0010534 X-linked spinocerebellar ataxia type 4 MONDO:0019515 Orphanet:85292 Orphanet:89043 obsolete rare dementia +MONDO:0010534 X-linked spinocerebellar ataxia type 4 MONDO:0035862 Orphanet:85292 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome +MONDO:0010535 Bazex-Dupre-Christol syndrome MONDO:0015331 Orphanet:113 Orphanet:139027 obsolete malformation syndrome with skin/mucosae involvement +MONDO:0010535 Bazex-Dupre-Christol syndrome MONDO:0015945 Orphanet:166113 Orphanet:183422 obsolete polymalformative genetic syndrome with increased risk of developing cancer +MONDO:0010535 Bazex-Dupre-Christol syndrome MONDO:0015950 Orphanet:113 Orphanet:183487 obsolete inherited skin tumor +MONDO:0010535 Bazex-Dupre-Christol syndrome MONDO:0019300 Orphanet:113 Orphanet:79386 obsolete rare skin tumor or hamartoma +MONDO:0010535 Bazex-Dupre-Christol syndrome MONDO:0019546 Orphanet:166113 Orphanet:90077 obsolete other acquired skin disease +MONDO:0010537 Borjeson-Forssman-Lehmann syndrome MONDO:0016565 Orphanet:127 Orphanet:240371 obsolete syndromic genetic obesity +MONDO:0010537 Borjeson-Forssman-Lehmann syndrome MONDO:0020169 Orphanet:127 Orphanet:98578 obsolete rare disorder with ptosis +MONDO:0010537 Borjeson-Forssman-Lehmann syndrome MONDO:0035863 Orphanet:127 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0010537 Borjeson-Forssman-Lehmann syndrome MONDO:8000032 Orphanet:127 Orphanet:377789 obsolete malformation syndrome +MONDO:0010538 Mononen-Karnes-Senac syndrome MONDO:0800093 Orphanet:2565 Orphanet:498451 obsolete dysostosis with brachydactyly without extraskeletal manifestations +MONDO:0010538 Mononen-Karnes-Senac syndrome MONDO:8000032 Orphanet:2565 Orphanet:377789 obsolete malformation syndrome +MONDO:0010539 X-linked mandibulofacial dysostosis MONDO:0015334 Orphanet:1131 Orphanet:139036 obsolete branchial arch or oral-acral syndrome +MONDO:0010539 X-linked mandibulofacial dysostosis MONDO:0026189 Orphanet:1131 Orphanet:183576 obsolete genetic branchial arch or oral-acral syndrome +MONDO:0010539 X-linked mandibulofacial dysostosis MONDO:0035863 Orphanet:1131 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0010539 X-linked mandibulofacial dysostosis MONDO:8000032 Orphanet:1131 Orphanet:377789 obsolete malformation syndrome +MONDO:0010540 bullous dystrophy, macular type MONDO:0019274 Orphanet:1867 Orphanet:79359 obsolete other epidermal disorder +MONDO:0010540 bullous dystrophy, macular type MONDO:0019275 Orphanet:1867 Orphanet:79360 obsolete other genetic epidermal disease +MONDO:0010540 bullous dystrophy, macular type MONDO:0035862 Orphanet:1867 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome +MONDO:0010541 X-linked calvarial hyperostosis MONDO:0800084 Orphanet:391327 Orphanet:93444 obsolete primary bone dysplasia with increased bone density +MONDO:0010543 Barth syndrome MONDO:0016335 Orphanet:111 Orphanet:217613 obsolete mitochondrial disease with dilated cardiomyopathy +MONDO:0010543 Barth syndrome MONDO:0018032 Orphanet:111 Orphanet:331184 obsolete constitutional neutropenia with extra-hematopoietic manifestations +MONDO:0010543 Barth syndrome MONDO:0018120 Orphanet:111 Orphanet:352312 obsolete disorder of phospholipids, sphingolipids and fatty acids biosynthesis with skeletal muscle predominant involvement +MONDO:0010545 Nance-Horan syndrome MONDO:0015336 Orphanet:627 Orphanet:139042 obsolete malformation syndrome with odontal and/or periodontal component +MONDO:0010545 Nance-Horan syndrome MONDO:0020233 Orphanet:627 Orphanet:98649 obsolete dentocutaneous disease with cataract +MONDO:0010545 Nance-Horan syndrome MONDO:0026190 Orphanet:627 Orphanet:183580 obsolete genetic malformation syndrome with odontal and/or periodontal component +MONDO:0010545 Nance-Horan syndrome MONDO:0035863 Orphanet:627 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0010545 Nance-Horan syndrome MONDO:8000032 Orphanet:627 Orphanet:377789 obsolete malformation syndrome +MONDO:0010547 X-linked progressive cerebellar ataxia MONDO:0035862 Orphanet:1175 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome +MONDO:0010554 Abruzzo-Erickson syndrome MONDO:0015335 Orphanet:921 Orphanet:139039 obsolete Mendelian syndromes with cleft lip/palate +MONDO:0010554 Abruzzo-Erickson syndrome MONDO:0015620 Orphanet:921 Orphanet:165707 obsolete syndromic urogenital tract malformation +MONDO:0010554 Abruzzo-Erickson syndrome MONDO:0043008 Orphanet:921 Orphanet:330206 obsolete genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability +MONDO:0010554 Abruzzo-Erickson syndrome MONDO:8000032 Orphanet:921 Orphanet:377789 obsolete malformation syndrome +MONDO:0010555 X-linked chondrodysplasia punctata 1 MONDO:0019602 Orphanet:79345 Orphanet:91088 obsolete other inborn metabolic disease +MONDO:0010555 X-linked chondrodysplasia punctata 1 MONDO:8000032 Orphanet:79345 Orphanet:377789 obsolete malformation syndrome +MONDO:0010558 choroideremia-deafness-obesity syndrome MONDO:0016565 Orphanet:1435 Orphanet:240371 obsolete syndromic genetic obesity +MONDO:0010558 choroideremia-deafness-obesity syndrome MONDO:0019589 Orphanet:1435 Orphanet:90642 obsolete syndromic genetic hearing loss +MONDO:0010558 choroideremia-deafness-obesity syndrome MONDO:8000032 Orphanet:1435 Orphanet:377789 obsolete malformation syndrome +MONDO:0010559 MASA syndrome MONDO:0020339 Orphanet:2466 Orphanet:98888 obsolete X-linked complex spastic paraplegia +MONDO:0010559 MASA syndrome MONDO:8000031 Orphanet:2466 Orphanet:557494 obsolete subtype of a disorder +MONDO:0010560 cleft palate with or without ankyloglossia, X-linked MONDO:0015335 Orphanet:324601 Orphanet:139039 obsolete Mendelian syndromes with cleft lip/palate +MONDO:0010560 cleft palate with or without ankyloglossia, X-linked MONDO:8000032 Orphanet:324601 Orphanet:377789 obsolete malformation syndrome +MONDO:0010561 Coffin-Lowry syndrome MONDO:0016565 Orphanet:192 Orphanet:240371 obsolete syndromic genetic obesity +MONDO:0010561 Coffin-Lowry syndrome MONDO:0035863 Orphanet:192 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0010561 Coffin-Lowry syndrome MONDO:8000032 Orphanet:192 Orphanet:377789 obsolete malformation syndrome +MONDO:0010562 colonic atresia MONDO:0015211 Orphanet:1198 Orphanet:108967 obsolete non-syndromic intestinal malformation +MONDO:0010562 colonic atresia MONDO:8000030 Orphanet:1198 Orphanet:377791 obsolete morphological anomaly +MONDO:0010568 Aicardi syndrome MONDO:0015655 Orphanet:50 Orphanet:166478 obsolete cerebral malformation with epilepsy +MONDO:0010568 Aicardi syndrome MONDO:0015945 Orphanet:50 Orphanet:183422 obsolete polymalformative genetic syndrome with increased risk of developing cancer +MONDO:0010568 Aicardi syndrome MONDO:0016055 Orphanet:50 Orphanet:199639 obsolete syndrome with corpus callosum agenesis /dysgenesis as a major feature +MONDO:0010568 Aicardi syndrome MONDO:0017122 Orphanet:50 Orphanet:269573 obsolete genetic syndrome with corpus callosum agenesis/dysgenesis as a major feature +MONDO:0010568 Aicardi syndrome MONDO:0034953 Orphanet:50 Orphanet:519325 obsolete syndromic inherited retinal disorder +MONDO:0010568 Aicardi syndrome MONDO:0035862 Orphanet:50 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome +MONDO:0010569 X-linked complicated corpus callosum dysgenesis MONDO:8000031 Orphanet:1497 Orphanet:557494 obsolete subtype of a disorder +MONDO:0010570 craniofrontonasal syndrome MONDO:0035863 Orphanet:1520 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0010570 craniofrontonasal syndrome MONDO:8000032 Orphanet:1520 Orphanet:377789 obsolete malformation syndrome +MONDO:0010571 otopalatodigital syndrome type 2 MONDO:0015334 Orphanet:90652 Orphanet:139036 obsolete branchial arch or oral-acral syndrome +MONDO:0010571 otopalatodigital syndrome type 2 MONDO:0015336 Orphanet:90652 Orphanet:139042 obsolete malformation syndrome with odontal and/or periodontal component +MONDO:0010571 otopalatodigital syndrome type 2 MONDO:0015501 Orphanet:90652 Orphanet:156237 obsolete syndrome or malformation associated with head and neck malformations +MONDO:0010571 otopalatodigital syndrome type 2 MONDO:0019589 Orphanet:90652 Orphanet:90642 obsolete syndromic genetic hearing loss +MONDO:0010571 otopalatodigital syndrome type 2 MONDO:0026189 Orphanet:90652 Orphanet:183576 obsolete genetic branchial arch or oral-acral syndrome +MONDO:0010571 otopalatodigital syndrome type 2 MONDO:0035863 Orphanet:90652 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0010571 otopalatodigital syndrome type 2 MONDO:8000032 Orphanet:90652 Orphanet:377789 obsolete malformation syndrome +MONDO:0010572 occipital horn syndrome MONDO:0035863 Orphanet:198 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0010574 syndromic X-linked intellectual disability 5 MONDO:0017121 Orphanet:1568 Orphanet:269546 obsolete syndrome with a Dandy-Walker malformation as major feature +MONDO:0010574 syndromic X-linked intellectual disability 5 MONDO:0020253 Orphanet:1568 Orphanet:98683 obsolete syndrome with a symptomatic strabismus +MONDO:0010574 syndromic X-linked intellectual disability 5 MONDO:0035863 Orphanet:1568 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0010574 syndromic X-linked intellectual disability 5 MONDO:0035863 Orphanet:85329 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0010574 syndromic X-linked intellectual disability 5 MONDO:8000032 Orphanet:1568 Orphanet:377789 obsolete malformation syndrome +MONDO:0010574 syndromic X-linked intellectual disability 5 MONDO:8000032 Orphanet:85329 Orphanet:377789 obsolete malformation syndrome +MONDO:0010575 deafness-hypogonadism syndrome MONDO:0015906 Orphanet:90646 Orphanet:181441 obsolete rare disorder with hypergonadotropic hypogonadism +MONDO:0010575 deafness-hypogonadism syndrome MONDO:0019589 Orphanet:90646 Orphanet:90642 obsolete syndromic genetic hearing loss +MONDO:0010575 deafness-hypogonadism syndrome MONDO:8000032 Orphanet:90646 Orphanet:377789 obsolete malformation syndrome +MONDO:0010578 deafness dystonia syndrome MONDO:0015918 Orphanet:52368 Orphanet:182070 obsolete rare neurodegenerative disease +MONDO:0010578 deafness dystonia syndrome MONDO:0018609 Orphanet:52368 Orphanet:441434 obsolete syndromic hereditary optic neuropathy +MONDO:0010578 deafness dystonia syndrome MONDO:0019589 Orphanet:52368 Orphanet:90642 obsolete syndromic genetic hearing loss +MONDO:0010578 deafness dystonia syndrome MONDO:0035862 Orphanet:52368 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome +MONDO:0010579 X-linked corneal dermoid MONDO:0020215 Orphanet:1661 Orphanet:98628 obsolete syndromic corneal dystrophy +MONDO:0010580 immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome MONDO:0015709 Orphanet:37042 Orphanet:169355 obsolete immunodeficiency syndrome with autoimmunity +MONDO:0010580 immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome MONDO:0026209 Orphanet:37042 Orphanet:183643 obsolete genetic polyendocrinopathy +MONDO:0010585 X-linked hypohidrotic ectodermal dysplasia MONDO:8000031 Orphanet:181 Orphanet:557494 obsolete subtype of a disorder +MONDO:0010590 FG syndrome 1 MONDO:0015246 Orphanet:93932 Orphanet:117573 obsolete syndromic anorectal malformation +MONDO:0010590 FG syndrome 1 MONDO:0017120 Orphanet:93932 Orphanet:269531 obsolete other syndrome with a central nervous system malformation as major feature +MONDO:0010590 FG syndrome 1 MONDO:0035863 Orphanet:93932 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0010592 focal dermal hypoplasia MONDO:0020063 Orphanet:2092 Orphanet:98196 obsolete malformation syndrome with hamartosis +MONDO:0010592 focal dermal hypoplasia MONDO:0020237 Orphanet:2092 Orphanet:98655 obsolete lens shape anomaly +MONDO:0010592 focal dermal hypoplasia MONDO:0034937 Orphanet:2092 Orphanet:519292 obsolete syndromic ectopia lentis +MONDO:0010592 focal dermal hypoplasia MONDO:0035863 Orphanet:2092 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0010592 focal dermal hypoplasia MONDO:0957001 Orphanet:2092 Orphanet:183481 obsolete hereditary mixed dermis disorder +MONDO:0010592 focal dermal hypoplasia MONDO:8000032 Orphanet:2092 Orphanet:377789 obsolete malformation syndrome +MONDO:0010610 holoprosencephaly-hypokinesia-congenital contractures syndrome MONDO:0017120 Orphanet:2570 Orphanet:269531 obsolete other syndrome with a central nervous system malformation as major feature +MONDO:0010610 holoprosencephaly-hypokinesia-congenital contractures syndrome MONDO:0018731 Orphanet:2570 Orphanet:459787 obsolete lethal multiple congenital anomalies/dysmorphic syndrome +MONDO:0010610 holoprosencephaly-hypokinesia-congenital contractures syndrome MONDO:8000032 Orphanet:2570 Orphanet:377789 obsolete malformation syndrome +MONDO:0010611 X-linked hydrocephalus with stenosis of the aqueduct of Sylvius MONDO:8000031 Orphanet:2182 Orphanet:557494 obsolete subtype of a disorder +MONDO:0010612 hydrocephaly-cerebellar agenesis syndrome MONDO:0017114 Orphanet:1397 Orphanet:269224 obsolete global cerebellar malformation +MONDO:0010612 hydrocephaly-cerebellar agenesis syndrome MONDO:8000032 Orphanet:1397 Orphanet:377789 obsolete malformation syndrome +MONDO:0010613 inborn glycerol kinase deficiency MONDO:0019227 Orphanet:308993 Orphanet:79179 obsolete inborn disorder of glycerol metabolism +MONDO:0010614 X-linked congenital generalized hypertrichosis MONDO:8000031 Orphanet:79495 Orphanet:557494 obsolete subtype of a disorder +MONDO:0010615 isolated growth hormone deficiency type III MONDO:8000031 Orphanet:231692 Orphanet:557494 obsolete subtype of a disorder +MONDO:0010617 male hypergonadotropic hypogonadism-intellectual disability-skeletal anomalies syndrome MONDO:0015906 Orphanet:2234 Orphanet:181441 obsolete rare disorder with hypergonadotropic hypogonadism +MONDO:0010617 male hypergonadotropic hypogonadism-intellectual disability-skeletal anomalies syndrome MONDO:0035863 Orphanet:2234 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0010617 male hypergonadotropic hypogonadism-intellectual disability-skeletal anomalies syndrome MONDO:8000032 Orphanet:2234 Orphanet:377789 obsolete malformation syndrome +MONDO:0010618 familial isolated hypoparathyroidism due to agenesis of parathyroid gland MONDO:8000031 Orphanet:2239 Orphanet:557494 obsolete subtype of a disorder +MONDO:0010621 CHILD syndrome MONDO:0015331 Orphanet:139 Orphanet:139027 obsolete malformation syndrome with skin/mucosae involvement +MONDO:0010621 CHILD syndrome MONDO:0017414 Orphanet:139 Orphanet:294057 obsolete rare nevus +MONDO:0010621 CHILD syndrome MONDO:0043008 Orphanet:139 Orphanet:330206 obsolete genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability +MONDO:0010622 recessive X-linked ichthyosis MONDO:0017262 Orphanet:461 Orphanet:281082 obsolete inherited non-syndromic ichthyosis +MONDO:0010622 recessive X-linked ichthyosis MONDO:0020215 Orphanet:461 Orphanet:98628 obsolete syndromic corneal dystrophy +MONDO:0010626 hyper-IgM syndrome type 1 MONDO:0015975 Orphanet:101088 Orphanet:183663 obsolete hyper-IgM syndrome with susceptibility to opportunistic infections +MONDO:0010626 hyper-IgM syndrome type 1 MONDO:8000031 Orphanet:101088 Orphanet:557494 obsolete subtype of a disorder +MONDO:0010631 incontinentia pigmenti MONDO:0015651 Orphanet:464 Orphanet:166466 obsolete neurocutaneous syndrome with epilepsy +MONDO:0010631 incontinentia pigmenti MONDO:0020014 Orphanet:464 Orphanet:98027 obsolete rare disease with odontological manifestation +MONDO:0010631 incontinentia pigmenti MONDO:0034954 Orphanet:464 Orphanet:519327 obsolete syndromic vitreoretinopathy +MONDO:0010631 incontinentia pigmenti MONDO:0035862 Orphanet:464 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome +MONDO:0010631 incontinentia pigmenti MONDO:8000032 Orphanet:464 Orphanet:377789 obsolete malformation syndrome +MONDO:0010638 keratosis follicularis-dwarfism-cerebral atrophy syndrome MONDO:0019274 Orphanet:2339 Orphanet:79359 obsolete other epidermal disorder +MONDO:0010638 keratosis follicularis-dwarfism-cerebral atrophy syndrome MONDO:0019275 Orphanet:2339 Orphanet:79360 obsolete other genetic epidermal disease +MONDO:0010638 keratosis follicularis-dwarfism-cerebral atrophy syndrome MONDO:0035863 Orphanet:2339 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0010638 keratosis follicularis-dwarfism-cerebral atrophy syndrome MONDO:8000032 Orphanet:2339 Orphanet:377789 obsolete malformation syndrome +MONDO:0010639 laryngeal abductor paralysis-intellectual disability syndrome MONDO:0035862 Orphanet:2375 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome +MONDO:0010639 laryngeal abductor paralysis-intellectual disability syndrome MONDO:8000032 Orphanet:2375 Orphanet:377789 obsolete malformation syndrome +MONDO:0010641 X-linked diffuse leiomyomatosis-Alport syndrome MONDO:8000031 Orphanet:1018 Orphanet:557494 obsolete subtype of a disorder +MONDO:0010645 oculocerebrorenal syndrome MONDO:0019744 Orphanet:534 Orphanet:93603 obsolete rare renal tubular disease +MONDO:0010645 oculocerebrorenal syndrome MONDO:0020222 Orphanet:534 Orphanet:98638 obsolete rare disease with glaucoma as a major feature +MONDO:0010645 oculocerebrorenal syndrome MONDO:0020230 Orphanet:534 Orphanet:98646 obsolete renal disease with cataract +MONDO:0010645 oculocerebrorenal syndrome MONDO:0022409 Orphanet:534 Orphanet:156162 obsolete nephropathy-associated ciliopathy +MONDO:0010645 oculocerebrorenal syndrome MONDO:0035862 Orphanet:534 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome +MONDO:0010645 oculocerebrorenal syndrome MONDO:8000032 Orphanet:534 Orphanet:377789 obsolete malformation syndrome +MONDO:0010649 isolated congenital megalocornea MONDO:0020219 Orphanet:91489 Orphanet:98635 obsolete corneogoniodysgenesis +MONDO:0010649 isolated congenital megalocornea MONDO:8000030 Orphanet:91489 Orphanet:377791 obsolete morphological anomaly +MONDO:0010650 Melnick-Needles syndrome MONDO:0043008 Orphanet:2484 Orphanet:330206 obsolete genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability +MONDO:0010650 Melnick-Needles syndrome MONDO:8000032 Orphanet:2484 Orphanet:377789 obsolete malformation syndrome +MONDO:0010651 Menkes disease MONDO:0016400 Orphanet:565 Orphanet:225692 obsolete metal transport or utilization disorder with epilepsy +MONDO:0010651 Menkes disease MONDO:0019058 Orphanet:565 Orphanet:68385 obsolete neurometabolic disease +MONDO:0010651 Menkes disease MONDO:0019282 Orphanet:565 Orphanet:79367 obsolete syndromic hair shaft abnormality +MONDO:0010651 Menkes disease MONDO:0035862 Orphanet:565 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome +MONDO:0010652 X-linked intellectual disability-seizures-psoriasis syndrome MONDO:0020253 Orphanet:3052 Orphanet:98683 obsolete syndrome with a symptomatic strabismus +MONDO:0010652 X-linked intellectual disability-seizures-psoriasis syndrome MONDO:0035863 Orphanet:3052 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0010653 Renpenning syndrome MONDO:0035863 Orphanet:3242 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0010653 Renpenning syndrome MONDO:8000032 Orphanet:3242 Orphanet:377789 obsolete malformation syndrome +MONDO:0010654 Partington syndrome MONDO:0015921 Orphanet:94083 Orphanet:182079 obsolete ARX-related epileptic encephalopathy +MONDO:0010654 Partington syndrome MONDO:0035862 Orphanet:94083 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome +MONDO:0010654 Partington syndrome MONDO:8000032 Orphanet:94083 Orphanet:377789 obsolete malformation syndrome +MONDO:0010655 X-linked intellectual disability with marfanoid habitus MONDO:0035863 Orphanet:776 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0010655 X-linked intellectual disability with marfanoid habitus MONDO:8000032 Orphanet:776 Orphanet:377789 obsolete malformation syndrome +MONDO:0010657 methylmalonic acidemia with homocystinuria, type cblX MONDO:8000031 Orphanet:369962 Orphanet:557494 obsolete subtype of a disorder +MONDO:0010658 syndromic X-linked intellectual disability 12 MONDO:0035862 Orphanet:85290 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome +MONDO:0010658 syndromic X-linked intellectual disability 12 MONDO:8000032 Orphanet:85290 Orphanet:377789 obsolete malformation syndrome +MONDO:0010659 FRAXE intellectual disability MONDO:0035862 Orphanet:100973 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome +MONDO:0010661 severe X-linked intellectual disability, Gustavson type MONDO:0018609 Orphanet:3078 Orphanet:441434 obsolete syndromic hereditary optic neuropathy +MONDO:0010661 severe X-linked intellectual disability, Gustavson type MONDO:0035863 Orphanet:3078 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0010661 severe X-linked intellectual disability, Gustavson type MONDO:8000032 Orphanet:3078 Orphanet:377789 obsolete malformation syndrome +MONDO:0010662 paraplegia-intellectual disability-hyperkeratosis syndrome MONDO:0035863 Orphanet:2824 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0010662 paraplegia-intellectual disability-hyperkeratosis syndrome MONDO:8000032 Orphanet:2824 Orphanet:377789 obsolete malformation syndrome +MONDO:0010664 syndromic X-linked intellectual disability Snyder type MONDO:0035863 Orphanet:3063 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0010665 Wilson-Turner syndrome MONDO:0016565 Orphanet:3459 Orphanet:240371 obsolete syndromic genetic obesity +MONDO:0010665 Wilson-Turner syndrome MONDO:0035863 Orphanet:3459 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0010665 Wilson-Turner syndrome MONDO:8000032 Orphanet:3459 Orphanet:377789 obsolete malformation syndrome +MONDO:0010667 Prieto syndrome MONDO:0035863 Orphanet:2958 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0010667 Prieto syndrome MONDO:8000032 Orphanet:2958 Orphanet:377789 obsolete malformation syndrome +MONDO:0010668 skeletal dysplasia-intellectual disability syndrome MONDO:0015246 Orphanet:1436 Orphanet:117573 obsolete syndromic anorectal malformation +MONDO:0010668 skeletal dysplasia-intellectual disability syndrome MONDO:0035863 Orphanet:1436 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0010668 skeletal dysplasia-intellectual disability syndrome MONDO:8000032 Orphanet:1436 Orphanet:377789 obsolete malformation syndrome +MONDO:0010669 syndactyly type 8 MONDO:8000030 Orphanet:2498 Orphanet:377791 obsolete morphological anomaly +MONDO:0010671 microphthalmia, syndromic 1 MONDO:0020156 Orphanet:85275 Orphanet:98565 obsolete syndromic ankyloblepharon +MONDO:0010671 microphthalmia, syndromic 1 MONDO:0035863 Orphanet:85275 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0010671 microphthalmia, syndromic 1 MONDO:8000032 Orphanet:85275 Orphanet:377789 obsolete malformation syndrome +MONDO:0010672 linear skin defects with multiple congenital anomalies MONDO:0015246 Orphanet:2556 Orphanet:117573 obsolete syndromic anorectal malformation +MONDO:0010672 linear skin defects with multiple congenital anomalies MONDO:0015331 Orphanet:2556 Orphanet:139027 obsolete malformation syndrome with skin/mucosae involvement +MONDO:0010672 linear skin defects with multiple congenital anomalies MONDO:0020222 Orphanet:2556 Orphanet:98638 obsolete rare disease with glaucoma as a major feature +MONDO:0010672 linear skin defects with multiple congenital anomalies MONDO:0035863 Orphanet:2556 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0010672 linear skin defects with multiple congenital anomalies MONDO:0957001 Orphanet:2556 Orphanet:183481 obsolete hereditary mixed dermis disorder +MONDO:0010672 linear skin defects with multiple congenital anomalies MONDO:8000032 Orphanet:2556 Orphanet:377789 obsolete malformation syndrome +MONDO:0010674 mucopolysaccharidosis type 2 MONDO:0016326 Orphanet:580 Orphanet:217581 obsolete lysosomal disease with hypertrophic cardiomyopathy +MONDO:0010674 mucopolysaccharidosis type 2 MONDO:0019058 Orphanet:580 Orphanet:68385 obsolete neurometabolic disease +MONDO:0010674 mucopolysaccharidosis type 2 MONDO:0019301 Orphanet:79388 Orphanet:79387 obsolete metabolic disease with skin involvement +MONDO:0010674 mucopolysaccharidosis type 2 MONDO:0020169 Orphanet:580 Orphanet:98578 obsolete rare disorder with ptosis +MONDO:0010674 mucopolysaccharidosis type 2 MONDO:0035862 Orphanet:580 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome +MONDO:0010679 Duchenne muscular dystrophy MONDO:0016899 Orphanet:98896 Orphanet:262 obsolete Duchenne and Becker muscular dystrophy +MONDO:0010679 Duchenne muscular dystrophy MONDO:0035862 Orphanet:98896 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome +MONDO:0010680 X-linked Emery-Dreifuss muscular dystrophy MONDO:0016196 Orphanet:98863 Orphanet:209188 obsolete qualitative or quantitative defects of emerin +MONDO:0010680 X-linked Emery-Dreifuss muscular dystrophy MONDO:8000031 Orphanet:98863 Orphanet:557494 obsolete subtype of a disorder +MONDO:0010683 X-linked myotubular myopathy MONDO:0016154 Orphanet:596 Orphanet:207110 obsolete qualitative or quantitative defects of myotubularin +MONDO:0010683 X-linked myotubular myopathy MONDO:0020169 Orphanet:596 Orphanet:98578 obsolete rare disorder with ptosis +MONDO:0010683 X-linked myotubular myopathy MONDO:0035862 Orphanet:596 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome +MONDO:0010686 N syndrome MONDO:0015945 Orphanet:2608 Orphanet:183422 obsolete polymalformative genetic syndrome with increased risk of developing cancer +MONDO:0010686 N syndrome MONDO:0019589 Orphanet:2608 Orphanet:90642 obsolete syndromic genetic hearing loss +MONDO:0010686 N syndrome MONDO:0035863 Orphanet:2608 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0010686 N syndrome MONDO:8000032 Orphanet:2608 Orphanet:377789 obsolete malformation syndrome +MONDO:0010691 Norrie disease MONDO:0019589 Orphanet:649 Orphanet:90642 obsolete syndromic genetic hearing loss +MONDO:0010691 Norrie disease MONDO:0020225 Orphanet:649 Orphanet:98641 obsolete syndromic cataract +MONDO:0010691 Norrie disease MONDO:0034954 Orphanet:649 Orphanet:519327 obsolete syndromic vitreoretinopathy +MONDO:0010691 Norrie disease MONDO:0035862 Orphanet:649 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome +MONDO:0010691 Norrie disease MONDO:8000032 Orphanet:649 Orphanet:377789 obsolete malformation syndrome +MONDO:0010698 optic atrophy 2 MONDO:0018609 Orphanet:98890 Orphanet:441434 obsolete syndromic hereditary optic neuropathy +MONDO:0010698 optic atrophy 2 MONDO:0035862 Orphanet:98890 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome +MONDO:0010699 Charcot-Marie-Tooth disease X-linked recessive 5 MONDO:0018609 Orphanet:99014 Orphanet:441434 obsolete syndromic hereditary optic neuropathy +MONDO:0010702 orofaciodigital syndrome I MONDO:0019286 Orphanet:2750 Orphanet:79372 obsolete sebaceous gland anomaly +MONDO:0010702 orofaciodigital syndrome I MONDO:0019589 Orphanet:2750 Orphanet:90642 obsolete syndromic genetic hearing loss +MONDO:0010702 orofaciodigital syndrome I MONDO:0019721 Orphanet:2750 Orphanet:93547 obsolete syndromic renal or urinary tract malformation +MONDO:0010702 orofaciodigital syndrome I MONDO:0035863 Orphanet:2750 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0010702 orofaciodigital syndrome I MONDO:8000032 Orphanet:2750 Orphanet:377789 obsolete malformation syndrome +MONDO:0010703 ornithine carbamoyltransferase deficiency MONDO:0035862 Orphanet:664 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome +MONDO:0010704 otopalatodigital syndrome type 1 MONDO:0015334 Orphanet:90650 Orphanet:139036 obsolete branchial arch or oral-acral syndrome +MONDO:0010704 otopalatodigital syndrome type 1 MONDO:0015336 Orphanet:90650 Orphanet:139042 obsolete malformation syndrome with odontal and/or periodontal component +MONDO:0010704 otopalatodigital syndrome type 1 MONDO:0015501 Orphanet:90650 Orphanet:156237 obsolete syndrome or malformation associated with head and neck malformations +MONDO:0010704 otopalatodigital syndrome type 1 MONDO:0019589 Orphanet:90650 Orphanet:90642 obsolete syndromic genetic hearing loss +MONDO:0010704 otopalatodigital syndrome type 1 MONDO:0026189 Orphanet:90650 Orphanet:183576 obsolete genetic branchial arch or oral-acral syndrome +MONDO:0010704 otopalatodigital syndrome type 1 MONDO:0035863 Orphanet:90650 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0010704 otopalatodigital syndrome type 1 MONDO:8000032 Orphanet:90650 Orphanet:377789 obsolete malformation syndrome +MONDO:0010706 premature ovarian failure 1 MONDO:0034443 Orphanet:642691 Orphanet:485382 obsolete genetic non-acquired premature ovarian failure +MONDO:0010708 Pallister-W syndrome MONDO:0015335 Orphanet:2804 Orphanet:139039 obsolete Mendelian syndromes with cleft lip/palate +MONDO:0010708 Pallister-W syndrome MONDO:0020253 Orphanet:2804 Orphanet:98683 obsolete syndrome with a symptomatic strabismus +MONDO:0010708 Pallister-W syndrome MONDO:0035863 Orphanet:2804 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0010708 Pallister-W syndrome MONDO:8000032 Orphanet:2804 Orphanet:377789 obsolete malformation syndrome +MONDO:0010709 early-onset parkinsonism-intellectual disability syndrome MONDO:0017635 Orphanet:2379 Orphanet:306666 obsolete parkinsonian syndrome due to neurodegenerative disease +MONDO:0010709 early-onset parkinsonism-intellectual disability syndrome MONDO:0017661 Orphanet:2379 Orphanet:307055 obsolete rare parkinsonian syndrome due to genetic neurodegenerative disease +MONDO:0010709 early-onset parkinsonism-intellectual disability syndrome MONDO:0035862 Orphanet:2379 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome +MONDO:0010710 Pierre Robin syndrome-faciodigital anomaly syndrome MONDO:0015335 Orphanet:2888 Orphanet:139039 obsolete Mendelian syndromes with cleft lip/palate +MONDO:0010710 Pierre Robin syndrome-faciodigital anomaly syndrome MONDO:8000032 Orphanet:2888 Orphanet:377789 obsolete malformation syndrome +MONDO:0010711 TARP syndrome MONDO:0015319 Orphanet:2886 Orphanet:138044 obsolete rare disease with Pierre Robin syndrome +MONDO:0010711 TARP syndrome MONDO:0015506 Orphanet:2886 Orphanet:156532 obsolete rare syndrome with cardiac malformations +MONDO:0010711 TARP syndrome MONDO:0018187 Orphanet:2886 Orphanet:363294 obsolete hereditary syndromic Pierre Robin syndrome +MONDO:0010711 TARP syndrome MONDO:0035863 Orphanet:2886 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0010711 TARP syndrome MONDO:8000032 Orphanet:2886 Orphanet:377789 obsolete malformation syndrome +MONDO:0010713 properdin deficiency, X-linked MONDO:0018727 Orphanet:2966 Orphanet:459348 obsolete immunodeficiency due to a complement regulatory deficiency +MONDO:0010714 Pelizeaus-Merzbacher spectrum disorder MONDO:0015918 Orphanet:702 Orphanet:182070 obsolete rare neurodegenerative disease +MONDO:0010714 Pelizeaus-Merzbacher spectrum disorder MONDO:0018609 Orphanet:702 Orphanet:441434 obsolete syndromic hereditary optic neuropathy +MONDO:0010714 Pelizeaus-Merzbacher spectrum disorder MONDO:0034961 Orphanet:702 Orphanet:519341 obsolete rare brainstem or cerebellar disorder with ophthalmic involvement as a major feature +MONDO:0010714 Pelizeaus-Merzbacher spectrum disorder MONDO:0035862 Orphanet:702 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome +MONDO:0010716 X-linked lethal multiple pterygium syndrome MONDO:8000032 Orphanet:79447 Orphanet:377789 obsolete malformation syndrome +MONDO:0010717 pyruvate dehydrogenase E1-alpha deficiency MONDO:8000031 Orphanet:79243 Orphanet:557494 obsolete subtype of a disorder +MONDO:0010718 absent radius-anogenital anomalies syndrome MONDO:0017432 Orphanet:3016 Orphanet:294955 obsolete syndrome with limb reduction defects +MONDO:0010718 absent radius-anogenital anomalies syndrome MONDO:8000032 Orphanet:3016 Orphanet:377789 obsolete malformation syndrome +MONDO:0010725 X-linked retinoschisis MONDO:0020216 Orphanet:792 Orphanet:98631 obsolete secondary dysgenetic glaucoma +MONDO:0010725 X-linked retinoschisis MONDO:0020225 Orphanet:792 Orphanet:98641 obsolete syndromic cataract +MONDO:0010725 X-linked retinoschisis MONDO:8000032 Orphanet:792 Orphanet:377789 obsolete malformation syndrome +MONDO:0010726 Rett syndrome MONDO:0015680 Orphanet:778 Orphanet:168778 obsolete rare pervasive developmental disorder +MONDO:0010726 Rett syndrome MONDO:0017656 Orphanet:778 Orphanet:306765 obsolete motor stereotypies +MONDO:0010726 Rett syndrome MONDO:0035862 Orphanet:778 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome +MONDO:0010728 SCARF syndrome MONDO:0035863 Orphanet:3134 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0010728 SCARF syndrome MONDO:8000032 Orphanet:3134 Orphanet:377789 obsolete malformation syndrome +MONDO:0010729 X-linked intellectual disability, Schimke type MONDO:0035863 Orphanet:85285 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0010729 X-linked intellectual disability, Schimke type MONDO:8000032 Orphanet:85285 Orphanet:377789 obsolete malformation syndrome +MONDO:0010731 Simpson-Golabi-Behmel syndrome MONDO:0015216 Orphanet:373 Orphanet:108979 obsolete syndromic diaphragmatic or abdominal wall malformation +MONDO:0010731 Simpson-Golabi-Behmel syndrome MONDO:0015501 Orphanet:373 Orphanet:156237 obsolete syndrome or malformation associated with head and neck malformations +MONDO:0010731 Simpson-Golabi-Behmel syndrome MONDO:0015880 Orphanet:373 Orphanet:180779 obsolete syndromic diaphragmatic or thoracic malformation +MONDO:0010731 Simpson-Golabi-Behmel syndrome MONDO:0015945 Orphanet:373 Orphanet:183422 obsolete polymalformative genetic syndrome with increased risk of developing cancer +MONDO:0010731 Simpson-Golabi-Behmel syndrome MONDO:0019721 Orphanet:373 Orphanet:93547 obsolete syndromic renal or urinary tract malformation +MONDO:0010731 Simpson-Golabi-Behmel syndrome MONDO:0035863 Orphanet:373 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0010731 Simpson-Golabi-Behmel syndrome MONDO:8000032 Orphanet:373 Orphanet:377789 obsolete malformation syndrome +MONDO:0010732 spastic paraparesis-deafness syndrome MONDO:0019589 Orphanet:2815 Orphanet:90642 obsolete syndromic genetic hearing loss +MONDO:0010732 spastic paraparesis-deafness syndrome MONDO:8000032 Orphanet:2815 Orphanet:377789 obsolete malformation syndrome +MONDO:0010733 hereditary spastic paraplegia 2 MONDO:0017916 Orphanet:99015 Orphanet:320350 obsolete pure or complex X-linked spastic paraplegia +MONDO:0010733 hereditary spastic paraplegia 2 MONDO:0018609 Orphanet:99015 Orphanet:441434 obsolete syndromic hereditary optic neuropathy +MONDO:0010735 Kennedy disease MONDO:0015918 Orphanet:481 Orphanet:182070 obsolete rare neurodegenerative disease +MONDO:0010735 Kennedy disease MONDO:0016115 Orphanet:481 Orphanet:206707 obsolete bulbospinal muscular atrophy of adulthood +MONDO:0010735 Kennedy disease MONDO:0018388 Orphanet:481 Orphanet:399685 obsolete rare male infertility due to testicular endocrine disorder +MONDO:0010742 pentalogy of Cantrell MONDO:0015216 Orphanet:1335 Orphanet:108979 obsolete syndromic diaphragmatic or abdominal wall malformation +MONDO:0010742 pentalogy of Cantrell MONDO:0015880 Orphanet:1335 Orphanet:180779 obsolete syndromic diaphragmatic or thoracic malformation +MONDO:0010742 pentalogy of Cantrell MONDO:0043008 Orphanet:1335 Orphanet:330206 obsolete genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability +MONDO:0010742 pentalogy of Cantrell MONDO:8000032 Orphanet:1335 Orphanet:377789 obsolete malformation syndrome +MONDO:0010743 thrombocytopenia 1 MONDO:0017057 Orphanet:852 Orphanet:268322 obsolete hereditary thrombocytopenia with normal platelets +MONDO:0010743 thrombocytopenia 1 MONDO:8000031 Orphanet:852 Orphanet:557494 obsolete subtype of a disorder +MONDO:0010745 beta-thalassemia-X-linked thrombocytopenia syndrome MONDO:0016492 Orphanet:231393 Orphanet:231386 obsolete beta-thalassemia with other manifestations +MONDO:0010747 X-linked dystonia-parkinsonism MONDO:0017635 Orphanet:53351 Orphanet:306666 obsolete parkinsonian syndrome due to neurodegenerative disease +MONDO:0010747 X-linked dystonia-parkinsonism MONDO:0017661 Orphanet:53351 Orphanet:307055 obsolete rare parkinsonian syndrome due to genetic neurodegenerative disease +MONDO:0010747 X-linked dystonia-parkinsonism MONDO:0018329 Orphanet:53351 Orphanet:391711 obsolete persistent combined dystonia +MONDO:0010748 torticollis-keloids-cryptorchidism-renal dysplasia syndrome MONDO:0015620 Orphanet:3341 Orphanet:165707 obsolete syndromic urogenital tract malformation +MONDO:0010748 torticollis-keloids-cryptorchidism-renal dysplasia syndrome MONDO:8000032 Orphanet:3341 Orphanet:377789 obsolete malformation syndrome +MONDO:0010749 trigonocephaly-short stature-developmental delay syndrome MONDO:0035863 Orphanet:3369 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0010749 trigonocephaly-short stature-developmental delay syndrome MONDO:8000032 Orphanet:3369 Orphanet:377789 obsolete malformation syndrome +MONDO:0010750 ulnar hypoplasia-split foot syndrome MONDO:0017433 Orphanet:1122 Orphanet:294957 obsolete dysostosis with combined reduction defects of upper and lower limbs +MONDO:0010750 ulnar hypoplasia-split foot syndrome MONDO:8000032 Orphanet:1122 Orphanet:377789 obsolete malformation syndrome +MONDO:0010753 cardiac valvular dysplasia, X-linked MONDO:0018797 Orphanet:555877 Orphanet:477805 obsolete genetic cardiac malformation +MONDO:0010753 cardiac valvular dysplasia, X-linked MONDO:0020288 Orphanet:555877 Orphanet:98720 obsolete atrioventricular valve anomaly +MONDO:0010753 cardiac valvular dysplasia, X-linked MONDO:8000030 Orphanet:555877 Orphanet:377791 obsolete morphological anomaly +MONDO:0010754 van den Bosch syndrome MONDO:0019271 Orphanet:3417 Orphanet:79356 obsolete acrokeratoderma +MONDO:0010754 van den Bosch syndrome MONDO:0026151 Orphanet:3417 Orphanet:183441 obsolete genetic acrokeratoderma +MONDO:0010754 van den Bosch syndrome MONDO:0035863 Orphanet:3417 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0010754 van den Bosch syndrome MONDO:8000032 Orphanet:3417 Orphanet:377789 obsolete malformation syndrome +MONDO:0010758 Wieacker-Wolff syndrome MONDO:0020253 Orphanet:85283 Orphanet:98683 obsolete syndrome with a symptomatic strabismus +MONDO:0010758 Wieacker-Wolff syndrome MONDO:0035863 Orphanet:3454 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0010758 Wieacker-Wolff syndrome MONDO:0035863 Orphanet:85283 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0010758 Wieacker-Wolff syndrome MONDO:8000032 Orphanet:3454 Orphanet:377789 obsolete malformation syndrome +MONDO:0010758 Wieacker-Wolff syndrome MONDO:8000032 Orphanet:85283 Orphanet:377789 obsolete malformation syndrome +MONDO:0010759 Wildervanck syndrome MONDO:0015334 Orphanet:3456 Orphanet:139036 obsolete branchial arch or oral-acral syndrome +MONDO:0010759 Wildervanck syndrome MONDO:0019711 Orphanet:3456 Orphanet:93454 obsolete dysostosis with predominant vertebral and costal involvement +MONDO:0010759 Wildervanck syndrome MONDO:0026189 Orphanet:3456 Orphanet:183576 obsolete genetic branchial arch or oral-acral syndrome +MONDO:0010759 Wildervanck syndrome MONDO:8000032 Orphanet:3456 Orphanet:377789 obsolete malformation syndrome +MONDO:0010765 46,XY complete gonadal dysgenesis MONDO:0017966 Orphanet:242 Orphanet:325118 obsolete 46,XY disorder of gonadal development +MONDO:0010765 46,XY complete gonadal dysgenesis MONDO:0020038 Orphanet:242 Orphanet:98074 obsolete gonadal dysgenesis of gynecological interest +MONDO:0010765 46,XY complete gonadal dysgenesis MONDO:8000032 Orphanet:242 Orphanet:377789 obsolete malformation syndrome +MONDO:0010771 histiocytoid cardiomyopathy MONDO:0015110 Orphanet:137675 Orphanet:101934 obsolete genetic cardiac rhythm disease +MONDO:0010771 histiocytoid cardiomyopathy MONDO:0016335 Orphanet:137675 Orphanet:217613 obsolete mitochondrial disease with dilated cardiomyopathy +MONDO:0010771 histiocytoid cardiomyopathy MONDO:0016803 Orphanet:137675 Orphanet:254837 obsolete unspecified inborn mitochondrial disorder +MONDO:0010773 mitochondrial myopathy with diabetes MONDO:0015888 Orphanet:2596 Orphanet:181381 obsolete other rare diabetes mellitus +MONDO:0010773 mitochondrial myopathy with diabetes MONDO:0016117 Orphanet:2596 Orphanet:206953 obsolete muscular lipidosis +MONDO:0010773 mitochondrial myopathy with diabetes MONDO:0016794 Orphanet:2596 Orphanet:254788 obsolete maternally-inherited mitochondrial myopathy +MONDO:0010779 mitochondrial non-syndromic sensorineural hearing loss MONDO:0016793 Orphanet:90641 Orphanet:254776 obsolete mitochondrial oxidative phosphorylation disorder due to a point mutation of mitochondrial DNA +MONDO:0010779 mitochondrial non-syndromic sensorineural hearing loss MONDO:8000031 Orphanet:90641 Orphanet:557494 obsolete subtype of a disorder +MONDO:0010780 mitochondrial myopathy with reversible cytochrome C oxidase deficiency MONDO:0016794 Orphanet:254864 Orphanet:254788 obsolete maternally-inherited mitochondrial myopathy +MONDO:0010785 maternally-inherited diabetes and deafness MONDO:0015888 Orphanet:225 Orphanet:181381 obsolete other rare diabetes mellitus +MONDO:0010785 maternally-inherited diabetes and deafness MONDO:0016793 Orphanet:225 Orphanet:254776 obsolete mitochondrial oxidative phosphorylation disorder due to a point mutation of mitochondrial DNA +MONDO:0010785 maternally-inherited diabetes and deafness MONDO:0019589 Orphanet:225 Orphanet:90642 obsolete syndromic genetic hearing loss +MONDO:0010785 maternally-inherited diabetes and deafness MONDO:0034953 Orphanet:225 Orphanet:519325 obsolete syndromic inherited retinal disorder +MONDO:0010786 chronic diarrhea with villous atrophy MONDO:0016792 Orphanet:1670 Orphanet:254767 obsolete mitochondrial oxidative phosphorylation disorder due to a large-scale single deletion of mitochondrial DNA +MONDO:0010786 chronic diarrhea with villous atrophy MONDO:0019126 Orphanet:1670 Orphanet:73014 obsolete intractable diarrhea of infancy +MONDO:0010786 chronic diarrhea with villous atrophy MONDO:0031697 Orphanet:1670 Orphanet:363300 obsolete genetic intractable diarrhea of infancy +MONDO:0010787 Kearns-Sayre syndrome MONDO:0015895 Orphanet:480 Orphanet:181402 obsolete syndrome with hypoparathyroidism +MONDO:0010787 Kearns-Sayre syndrome MONDO:0016335 Orphanet:480 Orphanet:217613 obsolete mitochondrial disease with dilated cardiomyopathy +MONDO:0010787 Kearns-Sayre syndrome MONDO:0016402 Orphanet:480 Orphanet:225700 obsolete mitochondrial disease with epilepsy +MONDO:0010787 Kearns-Sayre syndrome MONDO:0016403 Orphanet:480 Orphanet:225703 obsolete mitochondrial disease with peripheral neuropathy +MONDO:0010787 Kearns-Sayre syndrome MONDO:0016792 Orphanet:480 Orphanet:254767 obsolete mitochondrial oxidative phosphorylation disorder due to a large-scale single deletion of mitochondrial DNA +MONDO:0010787 Kearns-Sayre syndrome MONDO:0019058 Orphanet:480 Orphanet:68385 obsolete neurometabolic disease +MONDO:0010787 Kearns-Sayre syndrome MONDO:0019589 Orphanet:480 Orphanet:90642 obsolete syndromic genetic hearing loss +MONDO:0010787 Kearns-Sayre syndrome MONDO:0020240 Orphanet:480 Orphanet:98661 obsolete syndromic retinitis pigmentosa +MONDO:0010788 Leber hereditary optic neuropathy MONDO:0016793 Orphanet:104 Orphanet:254776 obsolete mitochondrial oxidative phosphorylation disorder due to a point mutation of mitochondrial DNA +MONDO:0010789 MELAS syndrome MONDO:0016327 Orphanet:550 Orphanet:217587 obsolete mitochondrial disease with hypertrophic cardiomyopathy +MONDO:0010789 MELAS syndrome MONDO:0016335 Orphanet:550 Orphanet:217613 obsolete mitochondrial disease with dilated cardiomyopathy +MONDO:0010789 MELAS syndrome MONDO:0016402 Orphanet:550 Orphanet:225700 obsolete mitochondrial disease with epilepsy +MONDO:0010789 MELAS syndrome MONDO:0016403 Orphanet:550 Orphanet:225703 obsolete mitochondrial disease with peripheral neuropathy +MONDO:0010789 MELAS syndrome MONDO:0016793 Orphanet:550 Orphanet:254776 obsolete mitochondrial oxidative phosphorylation disorder due to a point mutation of mitochondrial DNA +MONDO:0010789 MELAS syndrome MONDO:0019058 Orphanet:550 Orphanet:68385 obsolete neurometabolic disease +MONDO:0010789 MELAS syndrome MONDO:0019589 Orphanet:550 Orphanet:90642 obsolete syndromic genetic hearing loss +MONDO:0010789 MELAS syndrome MONDO:0034962 Orphanet:550 Orphanet:519343 obsolete rare ophthalmic disorder with cortical involvement +MONDO:0010789 MELAS syndrome MONDO:0035862 Orphanet:550 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome +MONDO:0010790 MERRF syndrome MONDO:0016327 Orphanet:551 Orphanet:217587 obsolete mitochondrial disease with hypertrophic cardiomyopathy +MONDO:0010790 MERRF syndrome MONDO:0016335 Orphanet:551 Orphanet:217613 obsolete mitochondrial disease with dilated cardiomyopathy +MONDO:0010790 MERRF syndrome MONDO:0016402 Orphanet:551 Orphanet:225700 obsolete mitochondrial disease with epilepsy +MONDO:0010790 MERRF syndrome MONDO:0016403 Orphanet:551 Orphanet:225703 obsolete mitochondrial disease with peripheral neuropathy +MONDO:0010790 MERRF syndrome MONDO:0016793 Orphanet:551 Orphanet:254776 obsolete mitochondrial oxidative phosphorylation disorder due to a point mutation of mitochondrial DNA +MONDO:0010790 MERRF syndrome MONDO:0018609 Orphanet:551 Orphanet:441434 obsolete syndromic hereditary optic neuropathy +MONDO:0010790 MERRF syndrome MONDO:0019058 Orphanet:551 Orphanet:68385 obsolete neurometabolic disease +MONDO:0010792 lethal infantile mitochondrial myopathy MONDO:0016794 Orphanet:254857 Orphanet:254788 obsolete maternally-inherited mitochondrial myopathy +MONDO:0010794 NARP syndrome MONDO:0016402 Orphanet:644 Orphanet:225700 obsolete mitochondrial disease with epilepsy +MONDO:0010794 NARP syndrome MONDO:0016403 Orphanet:644 Orphanet:225703 obsolete mitochondrial disease with peripheral neuropathy +MONDO:0010794 NARP syndrome MONDO:0016793 Orphanet:644 Orphanet:254776 obsolete mitochondrial oxidative phosphorylation disorder due to a point mutation of mitochondrial DNA +MONDO:0010794 NARP syndrome MONDO:0019058 Orphanet:644 Orphanet:68385 obsolete neurometabolic disease +MONDO:0010794 NARP syndrome MONDO:0020240 Orphanet:644 Orphanet:98661 obsolete syndromic retinitis pigmentosa +MONDO:0010794 NARP syndrome MONDO:0035862 Orphanet:644 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome +MONDO:0010797 Pearson syndrome MONDO:0015188 Orphanet:699 Orphanet:104013 obsolete metabolic disorder with intestinal involvement +MONDO:0010797 Pearson syndrome MONDO:0015895 Orphanet:699 Orphanet:181402 obsolete syndrome with hypoparathyroidism +MONDO:0010797 Pearson syndrome MONDO:0016792 Orphanet:699 Orphanet:254767 obsolete mitochondrial oxidative phosphorylation disorder due to a large-scale single deletion of mitochondrial DNA +MONDO:0010797 Pearson syndrome MONDO:0018032 Orphanet:699 Orphanet:331184 obsolete constitutional neutropenia with extra-hematopoietic manifestations +MONDO:0010801 spondylocamptodactyly syndrome MONDO:8000032 Orphanet:3180 Orphanet:377789 obsolete malformation syndrome +MONDO:0010802 pancreatic hypoplasia-diabetes-congenital heart disease syndrome MONDO:0015888 Orphanet:2255 Orphanet:181381 obsolete other rare diabetes mellitus +MONDO:0010802 pancreatic hypoplasia-diabetes-congenital heart disease syndrome MONDO:0035862 Orphanet:2255 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome +MONDO:0010803 Eiken syndrome MONDO:0019693 Orphanet:79106 Orphanet:93430 obsolete multiple metaphyseal dysplasia +MONDO:0010803 Eiken syndrome MONDO:0019705 Orphanet:79106 Orphanet:93447 obsolete primary bone dysplasia with defective bone mineralization +MONDO:0010803 Eiken syndrome MONDO:8000032 Orphanet:79106 Orphanet:377789 obsolete malformation syndrome +MONDO:0010805 bladder exstrophy MONDO:8000031 Orphanet:93930 Orphanet:557494 obsolete subtype of a disorder +MONDO:0010808 fatal familial insomnia MONDO:0017234 Orphanet:466 Orphanet:280400 obsolete inherited prion disease +MONDO:0010814 chondrodysplasia-pseudohermaphroditism syndrome MONDO:0017978 Orphanet:1422 Orphanet:325638 obsolete syndrome with disorder of sex development of gynecological interest +MONDO:0010814 chondrodysplasia-pseudohermaphroditism syndrome MONDO:0018232 Orphanet:1422 Orphanet:364536 obsolete primary bone dysplasia with micromelia +MONDO:0010814 chondrodysplasia-pseudohermaphroditism syndrome MONDO:0020042 Orphanet:1422 Orphanet:98087 obsolete syndrome with 46,XY disorder of sex development +MONDO:0010814 chondrodysplasia-pseudohermaphroditism syndrome MONDO:8000032 Orphanet:1422 Orphanet:377789 obsolete malformation syndrome +MONDO:0010816 Qazi Markouizos syndrome MONDO:0020253 Orphanet:3010 Orphanet:98683 obsolete syndrome with a symptomatic strabismus +MONDO:0010816 Qazi Markouizos syndrome MONDO:0035863 Orphanet:3010 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0010821 familial developmental dysphasia MONDO:0032013 Orphanet:1799 Orphanet:377792 obsolete clinical syndrome +MONDO:0010823 rhizomelic chondrodysplasia punctata type 3 MONDO:8000031 Orphanet:309803 Orphanet:557494 obsolete subtype of a disorder +MONDO:0010824 disorder of sex development-intellectual disability syndrome MONDO:0017978 Orphanet:2983 Orphanet:325638 obsolete syndrome with disorder of sex development of gynecological interest +MONDO:0010824 disorder of sex development-intellectual disability syndrome MONDO:0020042 Orphanet:2983 Orphanet:98087 obsolete syndrome with 46,XY disorder of sex development +MONDO:0010824 disorder of sex development-intellectual disability syndrome MONDO:0035863 Orphanet:2983 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0010825 atrioventricular defect-blepharophimosis-radial and anal defect syndrome MONDO:0015506 Orphanet:1352 Orphanet:156532 obsolete rare syndrome with cardiac malformations +MONDO:0010825 atrioventricular defect-blepharophimosis-radial and anal defect syndrome MONDO:0020169 Orphanet:1352 Orphanet:98578 obsolete rare disorder with ptosis +MONDO:0010825 atrioventricular defect-blepharophimosis-radial and anal defect syndrome MONDO:0043008 Orphanet:1352 Orphanet:330206 obsolete genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability +MONDO:0010825 atrioventricular defect-blepharophimosis-radial and anal defect syndrome MONDO:8000032 Orphanet:1352 Orphanet:377789 obsolete malformation syndrome +MONDO:0010829 CARASIL syndrome MONDO:0018831 Orphanet:199354 Orphanet:482072 obsolete HTRA1-related cerebral small vessel disease +MONDO:0010831 familial caudal dysgenesis MONDO:0017120 Orphanet:1768 Orphanet:269531 obsolete other syndrome with a central nervous system malformation as major feature +MONDO:0010831 familial caudal dysgenesis MONDO:8000032 Orphanet:1768 Orphanet:377789 obsolete malformation syndrome +MONDO:0010835 pterygium colli-intellectual disability-digital anomalies syndrome MONDO:0035863 Orphanet:2988 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0010835 pterygium colli-intellectual disability-digital anomalies syndrome MONDO:8000032 Orphanet:2988 Orphanet:377789 obsolete malformation syndrome +MONDO:0010840 pachygyria-intellectual disability-epilepsy syndrome MONDO:0015572 Orphanet:2798 Orphanet:163209 obsolete cerebral malformation due to abnormal neuronal migration +MONDO:0010840 pachygyria-intellectual disability-epilepsy syndrome MONDO:0035863 Orphanet:2798 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0010840 pachygyria-intellectual disability-epilepsy syndrome MONDO:8000032 Orphanet:2798 Orphanet:377789 obsolete malformation syndrome +MONDO:0010842 multiple cutaneous and mucosal venous malformations MONDO:0016232 Orphanet:2451 Orphanet:211252 obsolete rare venous malformation +MONDO:0010842 multiple cutaneous and mucosal venous malformations MONDO:0018730 Orphanet:2451 Orphanet:459548 obsolete rare genetic venous malformation +MONDO:0010842 multiple cutaneous and mucosal venous malformations MONDO:8000032 Orphanet:2451 Orphanet:377789 obsolete malformation syndrome +MONDO:0010849 palmoplantar keratoderma, Bothnian type MONDO:0020093 Orphanet:2337 Orphanet:98349 obsolete autosomal dominant isolated diffuse palmoplantar keratoderma +MONDO:0010850 Tessier number 4 facial cleft MONDO:0015415 Orphanet:141258 Orphanet:141253 obsolete oblique facial cleft +MONDO:0010850 Tessier number 4 facial cleft MONDO:0033056 Orphanet:141258 Orphanet:414726 obsolete genetic facial cleft +MONDO:0010850 Tessier number 4 facial cleft MONDO:8000030 Orphanet:141258 Orphanet:377791 obsolete morphological anomaly +MONDO:0010851 Lowry-MacLean syndrome MONDO:0020222 Orphanet:2409 Orphanet:98638 obsolete rare disease with glaucoma as a major feature +MONDO:0010851 Lowry-MacLean syndrome MONDO:0035863 Orphanet:2409 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0010851 Lowry-MacLean syndrome MONDO:8000032 Orphanet:2409 Orphanet:377789 obsolete malformation syndrome +MONDO:0010854 Toriello-Lacassie-Droste syndrome MONDO:8000032 Orphanet:3339 Orphanet:377789 obsolete malformation syndrome +MONDO:0010855 short tarsus-absence of lower eyelashes syndrome MONDO:0043008 Orphanet:2832 Orphanet:330206 obsolete genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability +MONDO:0010855 short tarsus-absence of lower eyelashes syndrome MONDO:8000032 Orphanet:2832 Orphanet:377789 obsolete malformation syndrome +MONDO:0010856 autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis MONDO:0022409 Orphanet:88924 Orphanet:156162 obsolete nephropathy-associated ciliopathy +MONDO:0010858 macrocephaly-spastic paraplegia-dysmorphism syndrome MONDO:0017915 Orphanet:2429 Orphanet:320346 obsolete pure or complex autosomal recessive spastic paraplegia +MONDO:0010858 macrocephaly-spastic paraplegia-dysmorphism syndrome MONDO:0035863 Orphanet:2429 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0010858 macrocephaly-spastic paraplegia-dysmorphism syndrome MONDO:8000032 Orphanet:2429 Orphanet:377789 obsolete malformation syndrome +MONDO:0010865 pseudoaminopterin syndrome MONDO:0035863 Orphanet:221120 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0010865 pseudoaminopterin syndrome MONDO:8000032 Orphanet:221120 Orphanet:377789 obsolete malformation syndrome +MONDO:0010866 infantile osteopetrosis with neuroaxonal dysplasia MONDO:8000032 Orphanet:85179 Orphanet:377789 obsolete malformation syndrome +MONDO:0010867 PARC syndrome MONDO:0015335 Orphanet:2825 Orphanet:139039 obsolete Mendelian syndromes with cleft lip/palate +MONDO:0010867 PARC syndrome MONDO:0043008 Orphanet:2825 Orphanet:330206 obsolete genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability +MONDO:0010867 PARC syndrome MONDO:8000032 Orphanet:2825 Orphanet:377789 obsolete malformation syndrome +MONDO:0010877 Charcot-Marie-Tooth disease type 5 MONDO:0015360 Orphanet:64751 Orphanet:140456 obsolete autosomal dominant hereditary axonal motor and sensory neuropathy +MONDO:0010878 hereditary spastic paraplegia 6 MONDO:0017914 Orphanet:100988 Orphanet:320342 obsolete pure or complex autosomal dominant spastic paraplegia +MONDO:0010879 CODAS syndrome MONDO:0020225 Orphanet:1458 Orphanet:98641 obsolete syndromic cataract +MONDO:0010879 CODAS syndrome MONDO:0035863 Orphanet:1458 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0010879 CODAS syndrome MONDO:0043008 Orphanet:1458 Orphanet:330206 obsolete genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability +MONDO:0010879 CODAS syndrome MONDO:8000032 Orphanet:1458 Orphanet:377789 obsolete malformation syndrome +MONDO:0010881 mesomelia-synostoses syndrome MONDO:8000032 Orphanet:2496 Orphanet:377789 obsolete malformation syndrome +MONDO:0010882 aphalangy-syndactyly-microcephaly syndrome MONDO:0017432 Orphanet:1113 Orphanet:294955 obsolete syndrome with limb reduction defects +MONDO:0010882 aphalangy-syndactyly-microcephaly syndrome MONDO:0017434 Orphanet:1113 Orphanet:294959 obsolete syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy +MONDO:0010882 aphalangy-syndactyly-microcephaly syndrome MONDO:8000032 Orphanet:1113 Orphanet:377789 obsolete malformation syndrome +MONDO:0010883 pectus excavatum-macrocephaly-dysplastic nails syndrome MONDO:0019285 Orphanet:2835 Orphanet:79370 obsolete syndromic nail anomaly +MONDO:0010883 pectus excavatum-macrocephaly-dysplastic nails syndrome MONDO:0043008 Orphanet:2835 Orphanet:330206 obsolete genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability +MONDO:0010883 pectus excavatum-macrocephaly-dysplastic nails syndrome MONDO:8000032 Orphanet:2835 Orphanet:377789 obsolete malformation syndrome +MONDO:0010886 2q37 microdeletion syndrome MONDO:0035863 Orphanet:1001 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0010886 2q37 microdeletion syndrome MONDO:0800094 Orphanet:1001 Orphanet:498454 obsolete dysostosis with brachydactyly with extraskeletal manifestations +MONDO:0010886 2q37 microdeletion syndrome MONDO:8000032 Orphanet:1001 Orphanet:377789 obsolete malformation syndrome +MONDO:0010889 arterial dissection-lentiginosis syndrome MONDO:0024471 Orphanet:1682 Orphanet:496924 obsolete non-inflammatory vasculopathy +MONDO:0010889 arterial dissection-lentiginosis syndrome MONDO:8000032 Orphanet:1682 Orphanet:377789 obsolete malformation syndrome +MONDO:0010890 acrocardiofacial syndrome MONDO:0015335 Orphanet:2008 Orphanet:139039 obsolete Mendelian syndromes with cleft lip/palate +MONDO:0010890 acrocardiofacial syndrome MONDO:0035863 Orphanet:2008 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0010890 acrocardiofacial syndrome MONDO:8000032 Orphanet:2008 Orphanet:377789 obsolete malformation syndrome +MONDO:0010891 lethal hemolytic anemia-genital anomalies syndrome MONDO:0015620 Orphanet:1046 Orphanet:165707 obsolete syndromic urogenital tract malformation +MONDO:0010891 lethal hemolytic anemia-genital anomalies syndrome MONDO:0015910 Orphanet:1046 Orphanet:182043 obsolete rare constitutional hemolytic anemia +MONDO:0010891 lethal hemolytic anemia-genital anomalies syndrome MONDO:8000032 Orphanet:1046 Orphanet:377789 obsolete malformation syndrome +MONDO:0010901 HEC syndrome MONDO:0017952 Orphanet:2119 Orphanet:324767 obsolete non-familial rare disease with dilated cardiomyopathy +MONDO:0010901 HEC syndrome MONDO:8000032 Orphanet:2119 Orphanet:377789 obsolete malformation syndrome +MONDO:0010908 loose anagen syndrome MONDO:0021034 Orphanet:168 Orphanet:481771 obsolete hereditary alopecia +MONDO:0010911 prolactin-producing pituitary gland adenoma MONDO:0018386 Orphanet:2965 Orphanet:399572 obsolete rare male infertility due to hypothalamic-pituitary-gonadal axis disorder +MONDO:0010911 prolactin-producing pituitary gland adenoma MONDO:0018397 Orphanet:2965 Orphanet:399831 obsolete female infertility due to hypothalamic-pituitary-gonadal axis disorder +MONDO:0010913 Caroli disease MONDO:0015116 Orphanet:53035 Orphanet:101941 obsolete rare biliary tract disease +MONDO:0010913 Caroli disease MONDO:0015213 Orphanet:53035 Orphanet:108971 obsolete non-syndromic visceral malformation +MONDO:0010913 Caroli disease MONDO:0015509 Orphanet:53035 Orphanet:156607 obsolete hereditary biliary tract disease +MONDO:0010913 Caroli disease MONDO:8000032 Orphanet:53035 Orphanet:377789 obsolete malformation syndrome +MONDO:0010914 carnitine palmitoyl transferase II deficiency, severe infantile form MONDO:8000031 Orphanet:228305 Orphanet:557494 obsolete subtype of a disorder +MONDO:0010920 microtia MONDO:0015502 Orphanet:83463 Orphanet:156243 obsolete pinnae and external auditory canal anomaly +MONDO:0010920 microtia MONDO:8000030 Orphanet:83463 Orphanet:377791 obsolete morphological anomaly +MONDO:0010921 nasal dermoid cyst MONDO:8000030 Orphanet:141103 Orphanet:377791 obsolete morphological anomaly +MONDO:0010922 Satoyoshi syndrome MONDO:0015245 Orphanet:3130 Orphanet:117569 obsolete rare intestinal disease +MONDO:0010922 Satoyoshi syndrome MONDO:0015939 Orphanet:3130 Orphanet:182228 obsolete systemic autoimmune disease +MONDO:0010923 proximal myopathy with focal depletion of mitochondria MONDO:0016110 Orphanet:521305 Orphanet:206656 obsolete non-dystrophic myopathy +MONDO:0010925 velo-facial-skeletal syndrome MONDO:0015335 Orphanet:3424 Orphanet:139039 obsolete Mendelian syndromes with cleft lip/palate +MONDO:0010925 velo-facial-skeletal syndrome MONDO:0043008 Orphanet:3424 Orphanet:330206 obsolete genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability +MONDO:0010925 velo-facial-skeletal syndrome MONDO:8000032 Orphanet:3424 Orphanet:377789 obsolete malformation syndrome +MONDO:0010926 familial hypocalciuric hypercalcemia 3 MONDO:8000031 Orphanet:101050 Orphanet:557494 obsolete subtype of a disorder +MONDO:0010930 anophthalmia plus syndrome MONDO:0043008 Orphanet:1104 Orphanet:330206 obsolete genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability +MONDO:0010930 anophthalmia plus syndrome MONDO:8000032 Orphanet:1104 Orphanet:377789 obsolete malformation syndrome +MONDO:0010939 low phospholipid associated cholelithiasis MONDO:0015116 Orphanet:69663 Orphanet:101941 obsolete rare biliary tract disease +MONDO:0010939 low phospholipid associated cholelithiasis MONDO:0015509 Orphanet:69663 Orphanet:156607 obsolete hereditary biliary tract disease +MONDO:0010947 Budd-Chiari syndrome MONDO:0015113 Orphanet:131 Orphanet:101938 obsolete rare vascular liver disease +MONDO:0010952 hereditary hyperferritinemia with congenital cataracts MONDO:0020225 Orphanet:163 Orphanet:98641 obsolete syndromic cataract +MONDO:0010959 van den Ende-Gupta syndrome MONDO:0015501 Orphanet:2460 Orphanet:156237 obsolete syndrome or malformation associated with head and neck malformations +MONDO:0010959 van den Ende-Gupta syndrome MONDO:0043008 Orphanet:2460 Orphanet:330206 obsolete genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability +MONDO:0010959 van den Ende-Gupta syndrome MONDO:8000032 Orphanet:2460 Orphanet:377789 obsolete malformation syndrome +MONDO:0010961 obesity due to prohormone convertase I deficiency MONDO:0015825 Orphanet:71528 Orphanet:179490 obsolete obesity due to congenital leptin resistance +MONDO:0010961 obesity due to prohormone convertase I deficiency MONDO:0015891 Orphanet:71528 Orphanet:181390 obsolete hypogonadotropic hypogonadism associated with other endocrinopathies +MONDO:0010962 diffuse nonepidermolytic palmoplantar keratoderma MONDO:0020093 Orphanet:530838 Orphanet:98349 obsolete autosomal dominant isolated diffuse palmoplantar keratoderma +MONDO:0010966 achondrogenesis type IB MONDO:0019688 Orphanet:93298 Orphanet:93423 obsolete sulfation-related bone disorder +MONDO:0010966 achondrogenesis type IB MONDO:8000031 Orphanet:93298 Orphanet:557494 obsolete subtype of a disorder +MONDO:0010972 hydrocephalus-costovertebral dysplasia-Sprengel anomaly syndrome MONDO:0035863 Orphanet:2180 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0010972 hydrocephalus-costovertebral dysplasia-Sprengel anomaly syndrome MONDO:8000032 Orphanet:2180 Orphanet:377789 obsolete malformation syndrome +MONDO:0010976 epidermolysis bullosa simplex 1D, generalized, intermediate or severe, autosomal recessive MONDO:0035684 Orphanet:89838 Orphanet:595346 obsolete epidermolysis bullosa simplex without extracutaneous involvement +MONDO:0010977 Brody myopathy MONDO:0016110 Orphanet:53347 Orphanet:206656 obsolete non-dystrophic myopathy +MONDO:0010979 Timothy syndrome MONDO:0015878 Orphanet:65283 Orphanet:180772 obsolete rare disease with autism +MONDO:0010979 Timothy syndrome MONDO:0035862 Orphanet:65283 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome +MONDO:0010979 Timothy syndrome MONDO:8000032 Orphanet:65283 Orphanet:377789 obsolete malformation syndrome +MONDO:0010981 absent tibia-polydactyly-arachnoid cyst syndrome MONDO:0017432 Orphanet:3328 Orphanet:294955 obsolete syndrome with limb reduction defects +MONDO:0010981 absent tibia-polydactyly-arachnoid cyst syndrome MONDO:0017434 Orphanet:3328 Orphanet:294959 obsolete syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy +MONDO:0010981 absent tibia-polydactyly-arachnoid cyst syndrome MONDO:0043008 Orphanet:3328 Orphanet:330206 obsolete genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability +MONDO:0010981 absent tibia-polydactyly-arachnoid cyst syndrome MONDO:8000032 Orphanet:3328 Orphanet:377789 obsolete malformation syndrome +MONDO:0010988 aplasia cutis-myopia syndrome MONDO:0015331 Orphanet:1117 Orphanet:139027 obsolete malformation syndrome with skin/mucosae involvement +MONDO:0010988 aplasia cutis-myopia syndrome MONDO:0034953 Orphanet:1117 Orphanet:519325 obsolete syndromic inherited retinal disorder +MONDO:0010988 aplasia cutis-myopia syndrome MONDO:0957001 Orphanet:1117 Orphanet:183481 obsolete hereditary mixed dermis disorder +MONDO:0010989 Mayer-Rokitansky-Küster-Hauser syndrome type 2 MONDO:0015246 Orphanet:2578 Orphanet:117573 obsolete syndromic anorectal malformation +MONDO:0010989 Mayer-Rokitansky-Küster-Hauser syndrome type 2 MONDO:8000031 Orphanet:2578 Orphanet:557494 obsolete subtype of a disorder +MONDO:0010993 Harrod syndrome MONDO:0020225 Orphanet:2115 Orphanet:98641 obsolete syndromic cataract +MONDO:0010993 Harrod syndrome MONDO:0035863 Orphanet:2115 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0010993 Harrod syndrome MONDO:8000032 Orphanet:2115 Orphanet:377789 obsolete malformation syndrome +MONDO:0010997 supranuclear palsy, progressive, 1 MONDO:8000031 Orphanet:240071 Orphanet:557494 obsolete subtype of a disorder +MONDO:0010998 ALG3-congenital disorder of glycosylation MONDO:0018287 Orphanet:79321 Orphanet:371071 obsolete congenital disorder of glycosylation with epilepsy as a major feature +MONDO:0010998 ALG3-congenital disorder of glycosylation MONDO:0035862 Orphanet:79321 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome +MONDO:0010999 fallot complex-intellectual disability-growth delay syndrome MONDO:0035863 Orphanet:3304 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0010999 fallot complex-intellectual disability-growth delay syndrome MONDO:8000032 Orphanet:3304 Orphanet:377789 obsolete malformation syndrome +MONDO:0011004 lissencephaly type 3-metacarpal bone dysplasia syndrome MONDO:8000032 Orphanet:86822 Orphanet:377789 obsolete malformation syndrome +MONDO:0011006 hereditary spastic paraplegia 9A MONDO:0020225 Orphanet:447753 Orphanet:98641 obsolete syndromic cataract +MONDO:0011007 diaphragmatic defect-limb deficiency-skull defect syndrome MONDO:0015216 Orphanet:2141 Orphanet:108979 obsolete syndromic diaphragmatic or abdominal wall malformation +MONDO:0011007 diaphragmatic defect-limb deficiency-skull defect syndrome MONDO:0015880 Orphanet:2141 Orphanet:180779 obsolete syndromic diaphragmatic or thoracic malformation +MONDO:0011007 diaphragmatic defect-limb deficiency-skull defect syndrome MONDO:0043008 Orphanet:2141 Orphanet:330206 obsolete genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability +MONDO:0011007 diaphragmatic defect-limb deficiency-skull defect syndrome MONDO:8000032 Orphanet:2141 Orphanet:377789 obsolete malformation syndrome +MONDO:0011008 cleft lip/palate-intestinal malrotation-cardiopathy syndrome MONDO:0015335 Orphanet:2001 Orphanet:139039 obsolete Mendelian syndromes with cleft lip/palate +MONDO:0011008 cleft lip/palate-intestinal malrotation-cardiopathy syndrome MONDO:0043008 Orphanet:2001 Orphanet:330206 obsolete genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability +MONDO:0011008 cleft lip/palate-intestinal malrotation-cardiopathy syndrome MONDO:8000032 Orphanet:2001 Orphanet:377789 obsolete malformation syndrome +MONDO:0011010 Matthew-Wood syndrome MONDO:0015216 Orphanet:2470 Orphanet:108979 obsolete syndromic diaphragmatic or abdominal wall malformation +MONDO:0011010 Matthew-Wood syndrome MONDO:0015221 Orphanet:2470 Orphanet:108993 obsolete non-syndromic respiratory or mediastinal malformation +MONDO:0011010 Matthew-Wood syndrome MONDO:0015222 Orphanet:2470 Orphanet:108995 obsolete syndromic respiratory or mediastinal malformation +MONDO:0011010 Matthew-Wood syndrome MONDO:0015880 Orphanet:2470 Orphanet:180779 obsolete syndromic diaphragmatic or thoracic malformation +MONDO:0011010 Matthew-Wood syndrome MONDO:0015930 Orphanet:2470 Orphanet:182111 obsolete respiratory malformation +MONDO:0011010 Matthew-Wood syndrome MONDO:0026203 Orphanet:2470 Orphanet:183622 obsolete genetic respiratory malformation +MONDO:0011010 Matthew-Wood syndrome MONDO:0035863 Orphanet:2470 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0011010 Matthew-Wood syndrome MONDO:0043008 Orphanet:2470 Orphanet:330206 obsolete genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability +MONDO:0011010 Matthew-Wood syndrome MONDO:8000032 Orphanet:2470 Orphanet:377789 obsolete malformation syndrome +MONDO:0011011 skeletal dysplasia-epilepsy-short stature syndrome MONDO:0035863 Orphanet:1858 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0011011 skeletal dysplasia-epilepsy-short stature syndrome MONDO:0800094 Orphanet:1858 Orphanet:498454 obsolete dysostosis with brachydactyly with extraskeletal manifestations +MONDO:0011011 skeletal dysplasia-epilepsy-short stature syndrome MONDO:8000032 Orphanet:1858 Orphanet:377789 obsolete malformation syndrome +MONDO:0011012 African iron overload MONDO:0015115 Orphanet:139507 Orphanet:101940 obsolete rare genetic metabolic liver disease +MONDO:0011014 pleuropulmonary blastoma MONDO:0015119 Orphanet:64742 Orphanet:101945 obsolete bronchopulmonary tumor +MONDO:0011017 Naxos disease MONDO:0017671 Orphanet:34217 Orphanet:307804 obsolete autosomal recessive disease with diffuse palmoplantar keratoderma as a major feature +MONDO:0011017 Naxos disease MONDO:0018558 Orphanet:34217 Orphanet:434809 obsolete syndrome with wooly hair +MONDO:0011018 brachyolmia-amelogenesis imperfecta syndrome MONDO:0015336 Orphanet:2899 Orphanet:139042 obsolete malformation syndrome with odontal and/or periodontal component +MONDO:0011018 brachyolmia-amelogenesis imperfecta syndrome MONDO:0026190 Orphanet:2899 Orphanet:183580 obsolete genetic malformation syndrome with odontal and/or periodontal component +MONDO:0011018 brachyolmia-amelogenesis imperfecta syndrome MONDO:8000032 Orphanet:2899 Orphanet:377789 obsolete malformation syndrome +MONDO:0011019 alopecia-intellectual disability-hypergonadotropic hypogonadism syndrome MONDO:0021034 Orphanet:1014 Orphanet:481771 obsolete hereditary alopecia +MONDO:0011019 alopecia-intellectual disability-hypergonadotropic hypogonadism syndrome MONDO:0035863 Orphanet:1014 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0011020 osteoporosis-oculocutaneous hypopigmentation syndrome MONDO:0019704 Orphanet:2786 Orphanet:93446 obsolete primary bone dysplasia with decreased bone density +MONDO:0011020 osteoporosis-oculocutaneous hypopigmentation syndrome MONDO:8000032 Orphanet:2786 Orphanet:377789 obsolete malformation syndrome +MONDO:0011022 Potocki-Shaffer syndrome MONDO:0035863 Orphanet:52022 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0011022 Potocki-Shaffer syndrome MONDO:8000032 Orphanet:52022 Orphanet:377789 obsolete malformation syndrome +MONDO:0011023 hereditary mixed polyposis syndrome MONDO:0018188 Orphanet:157794 Orphanet:363314 obsolete hereditary intestinal polyposis +MONDO:0011025 Cayman type cerebellar ataxia MONDO:0035862 Orphanet:94122 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome +MONDO:0011028 autosomal recessive limb-girdle muscular dystrophy type 2F MONDO:0016334 Orphanet:219 Orphanet:217610 obsolete neuromuscular disease with dilated cardiomyopathy +MONDO:0011034 odontomicronychial dysplasia MONDO:0015336 Orphanet:1811 Orphanet:139042 obsolete malformation syndrome with odontal and/or periodontal component +MONDO:0011034 odontomicronychial dysplasia MONDO:0019285 Orphanet:1811 Orphanet:79370 obsolete syndromic nail anomaly +MONDO:0011034 odontomicronychial dysplasia MONDO:8000032 Orphanet:1811 Orphanet:377789 obsolete malformation syndrome +MONDO:0011035 neurofibromatosis-Noonan syndrome MONDO:0015950 Orphanet:638 Orphanet:183487 obsolete inherited skin tumor +MONDO:0011035 neurofibromatosis-Noonan syndrome MONDO:0019300 Orphanet:638 Orphanet:79386 obsolete rare skin tumor or hamartoma +MONDO:0011035 neurofibromatosis-Noonan syndrome MONDO:0020063 Orphanet:638 Orphanet:98196 obsolete malformation syndrome with hamartosis +MONDO:0011035 neurofibromatosis-Noonan syndrome MONDO:8000032 Orphanet:638 Orphanet:377789 obsolete malformation syndrome +MONDO:0011036 porencephaly-cerebellar hypoplasia-internal malformations syndrome MONDO:0017118 Orphanet:2941 Orphanet:269523 obsolete syndrome with a cerebellar malformation as major feature +MONDO:0011036 porencephaly-cerebellar hypoplasia-internal malformations syndrome MONDO:8000032 Orphanet:2941 Orphanet:377789 obsolete malformation syndrome +MONDO:0011038 cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome MONDO:0018609 Orphanet:1171 Orphanet:441434 obsolete syndromic hereditary optic neuropathy +MONDO:0011038 cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome MONDO:0019589 Orphanet:1171 Orphanet:90642 obsolete syndromic genetic hearing loss +MONDO:0011041 ectodermal dysplasia with natal teeth, Turnpenny type MONDO:0015336 Orphanet:69083 Orphanet:139042 obsolete malformation syndrome with odontal and/or periodontal component +MONDO:0011041 ectodermal dysplasia with natal teeth, Turnpenny type MONDO:0026190 Orphanet:69083 Orphanet:183580 obsolete genetic malformation syndrome with odontal and/or periodontal component +MONDO:0011041 ectodermal dysplasia with natal teeth, Turnpenny type MONDO:8000032 Orphanet:69083 Orphanet:377789 obsolete malformation syndrome +MONDO:0011045 MMEP syndrome MONDO:0035863 Orphanet:3434 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0011045 MMEP syndrome MONDO:8000032 Orphanet:3434 Orphanet:377789 obsolete malformation syndrome +MONDO:0011046 short stature, Brussels type MONDO:0800089 Orphanet:2867 Orphanet:93450 obsolete primary bone dysplasia with disorganized development of skeletal components +MONDO:0011046 short stature, Brussels type MONDO:8000032 Orphanet:2867 Orphanet:377789 obsolete malformation syndrome +MONDO:0011047 deafness-epiphyseal dysplasia-short stature syndrome MONDO:0019589 Orphanet:3218 Orphanet:90642 obsolete syndromic genetic hearing loss +MONDO:0011047 deafness-epiphyseal dysplasia-short stature syndrome MONDO:8000032 Orphanet:3218 Orphanet:377789 obsolete malformation syndrome +MONDO:0011048 epilepsy-microcephaly-skeletal dysplasia syndrome MONDO:0035863 Orphanet:1948 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0011048 epilepsy-microcephaly-skeletal dysplasia syndrome MONDO:8000032 Orphanet:1948 Orphanet:377789 obsolete malformation syndrome +MONDO:0011049 Fine-Lubinsky syndrome MONDO:0020225 Orphanet:1272 Orphanet:98641 obsolete syndromic cataract +MONDO:0011049 Fine-Lubinsky syndrome MONDO:0035863 Orphanet:1272 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0011049 Fine-Lubinsky syndrome MONDO:8000032 Orphanet:1272 Orphanet:377789 obsolete malformation syndrome +MONDO:0011050 microcephaly-cardiac defect-lung malsegmentation syndrome MONDO:0015506 Orphanet:2516 Orphanet:156532 obsolete rare syndrome with cardiac malformations +MONDO:0011050 microcephaly-cardiac defect-lung malsegmentation syndrome MONDO:0043008 Orphanet:2516 Orphanet:330206 obsolete genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability +MONDO:0011050 microcephaly-cardiac defect-lung malsegmentation syndrome MONDO:8000032 Orphanet:2516 Orphanet:377789 obsolete malformation syndrome +MONDO:0011051 lethal short-limb skeletal dysplasia, Al Gazali type MONDO:8000031 Orphanet:646136 Orphanet:557494 obsolete subtype of a disorder +MONDO:0011053 intellectual disability-sparse hair-brachydactyly syndrome MONDO:0035863 Orphanet:3051 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0011053 intellectual disability-sparse hair-brachydactyly syndrome MONDO:8000032 Orphanet:3051 Orphanet:377789 obsolete malformation syndrome +MONDO:0011054 autosomal recessive amelia MONDO:0017433 Orphanet:1027 Orphanet:294957 obsolete dysostosis with combined reduction defects of upper and lower limbs +MONDO:0011054 autosomal recessive amelia MONDO:8000032 Orphanet:1027 Orphanet:377789 obsolete malformation syndrome +MONDO:0011055 distal monosomy 10p MONDO:8000032 Orphanet:1580 Orphanet:377789 obsolete malformation syndrome +MONDO:0011059 holoprosencephaly-craniosynostosis syndrome MONDO:0017120 Orphanet:2163 Orphanet:269531 obsolete other syndrome with a central nervous system malformation as major feature +MONDO:0011059 holoprosencephaly-craniosynostosis syndrome MONDO:0020253 Orphanet:2163 Orphanet:98683 obsolete syndrome with a symptomatic strabismus +MONDO:0011059 holoprosencephaly-craniosynostosis syndrome MONDO:8000032 Orphanet:2163 Orphanet:377789 obsolete malformation syndrome +MONDO:0011060 early-onset non-syndromic cataract MONDO:0020145 Orphanet:91492 Orphanet:98553 obsolete developmental defect of the eye +MONDO:0011060 early-onset non-syndromic cataract MONDO:0020224 Orphanet:91492 Orphanet:98640 obsolete rare cataract +MONDO:0011060 early-onset non-syndromic cataract MONDO:0026186 Orphanet:91492 Orphanet:183557 obsolete genetic developmental defect of the eye +MONDO:0011062 aprosencephaly cerebellar dysgenesis MONDO:0017090 Orphanet:1126 Orphanet:268926 obsolete midline cerebral malformation +MONDO:0011062 aprosencephaly cerebellar dysgenesis MONDO:8000032 Orphanet:1126 Orphanet:377789 obsolete malformation syndrome +MONDO:0011063 hidrotic ectodermal dysplasia, Christianson-Fourie type MONDO:8000032 Orphanet:1808 Orphanet:377789 obsolete malformation syndrome +MONDO:0011065 Hunter-McAlpine craniosynostosis MONDO:0020018 Orphanet:97340 Orphanet:98038 obsolete cranial malformation +MONDO:0011065 Hunter-McAlpine craniosynostosis MONDO:8000032 Orphanet:97340 Orphanet:377789 obsolete malformation syndrome +MONDO:0011071 hereditary thrombocytopenia and hematologic cancer predisposition syndrome MONDO:0018796 Orphanet:71290 Orphanet:477797 obsolete isolated constitutional thrombocytopenia +MONDO:0011071 hereditary thrombocytopenia and hematologic cancer predisposition syndrome MONDO:0020118 Orphanet:71290 Orphanet:98456 obsolete dense granule disease +MONDO:0011076 myofibrillar myopathy 1 MONDO:0016334 Orphanet:98909 Orphanet:217610 obsolete neuromuscular disease with dilated cardiomyopathy +MONDO:0011076 myofibrillar myopathy 1 MONDO:0026989 Orphanet:98909 Orphanet:217595 obsolete syndrome associated with hypertrophic cardiomyopathy +MONDO:0011078 anterior chamber cleavage disorder, cerebellar hypoplasia, hypothyroidism, and tracheal stenosis MONDO:0015778 Orphanet:2321 Orphanet:177107 obsolete syndromic hypothyroidism +MONDO:0011078 anterior chamber cleavage disorder, cerebellar hypoplasia, hypothyroidism, and tracheal stenosis MONDO:8000032 Orphanet:2321 Orphanet:377789 obsolete malformation syndrome +MONDO:0011079 rhizomelic dysplasia, Patterson-Lowry type MONDO:0019697 Orphanet:2831 Orphanet:93438 obsolete mesomelic and rhizo-mesomelic dysplasia +MONDO:0011079 rhizomelic dysplasia, Patterson-Lowry type MONDO:8000032 Orphanet:2831 Orphanet:377789 obsolete malformation syndrome +MONDO:0011080 progressive deafness with stapes fixation MONDO:0019589 Orphanet:3235 Orphanet:90642 obsolete syndromic genetic hearing loss +MONDO:0011080 progressive deafness with stapes fixation MONDO:8000032 Orphanet:3235 Orphanet:377789 obsolete malformation syndrome +MONDO:0011081 dislocation of the hip-dysmorphism syndrome MONDO:0043008 Orphanet:2412 Orphanet:330206 obsolete genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability +MONDO:0011081 dislocation of the hip-dysmorphism syndrome MONDO:8000032 Orphanet:2412 Orphanet:377789 obsolete malformation syndrome +MONDO:0011082 oculoauriculofrontonasal syndrome MONDO:8000032 Orphanet:398156 Orphanet:377789 obsolete malformation syndrome +MONDO:0011083 trichodental syndrome MONDO:0015336 Orphanet:3351 Orphanet:139042 obsolete malformation syndrome with odontal and/or periodontal component +MONDO:0011083 trichodental syndrome MONDO:0019282 Orphanet:3351 Orphanet:79367 obsolete syndromic hair shaft abnormality +MONDO:0011083 trichodental syndrome MONDO:0026190 Orphanet:3351 Orphanet:183580 obsolete genetic malformation syndrome with odontal and/or periodontal component +MONDO:0011083 trichodental syndrome MONDO:8000032 Orphanet:3351 Orphanet:377789 obsolete malformation syndrome +MONDO:0011090 isolated hereditary congenital facial paralysis MONDO:0015499 Orphanet:306527 Orphanet:156224 obsolete paralytic facial malformation +MONDO:0011090 isolated hereditary congenital facial paralysis MONDO:0020132 Orphanet:306527 Orphanet:98518 obsolete cranial nerve and nuclear aplasia +MONDO:0011090 isolated hereditary congenital facial paralysis MONDO:8000030 Orphanet:306527 Orphanet:377791 obsolete morphological anomaly +MONDO:0011096 autosomal agammaglobulinemia MONDO:8000031 Orphanet:33110 Orphanet:557494 obsolete subtype of a disorder +MONDO:0011099 human HOXA1 syndromes MONDO:0019117 Orphanet:69739 Orphanet:71859 obsolete genetic nervous system disorder +MONDO:0011099 human HOXA1 syndromes MONDO:0019589 Orphanet:69739 Orphanet:90642 obsolete syndromic genetic hearing loss +MONDO:0011099 human HOXA1 syndromes MONDO:0020009 Orphanet:69739 Orphanet:98006 obsolete rare neurologic disease +MONDO:0011106 facial dysmorphism-lens dislocation-anterior segment abnormalities-spontaneous filtering blebs syndrome MONDO:0034937 Orphanet:412022 Orphanet:519292 obsolete syndromic ectopia lentis +MONDO:0011106 facial dysmorphism-lens dislocation-anterior segment abnormalities-spontaneous filtering blebs syndrome MONDO:8000032 Orphanet:412022 Orphanet:377789 obsolete malformation syndrome +MONDO:0011107 congenital hypotrichosis with juvenile macular dystrophy MONDO:0034953 Orphanet:1573 Orphanet:519325 obsolete syndromic inherited retinal disorder +MONDO:0011107 congenital hypotrichosis with juvenile macular dystrophy MONDO:8000032 Orphanet:1573 Orphanet:377789 obsolete malformation syndrome +MONDO:0011114 familial multiple trichoepithelioma MONDO:8000031 Orphanet:867 Orphanet:557494 obsolete subtype of a disorder +MONDO:0011116 lung agenesis-heart defect-thumb anomalies syndrome MONDO:0015221 Orphanet:1120 Orphanet:108993 obsolete non-syndromic respiratory or mediastinal malformation +MONDO:0011116 lung agenesis-heart defect-thumb anomalies syndrome MONDO:0015222 Orphanet:1120 Orphanet:108995 obsolete syndromic respiratory or mediastinal malformation +MONDO:0011116 lung agenesis-heart defect-thumb anomalies syndrome MONDO:0015930 Orphanet:1120 Orphanet:182111 obsolete respiratory malformation +MONDO:0011116 lung agenesis-heart defect-thumb anomalies syndrome MONDO:0026203 Orphanet:1120 Orphanet:183622 obsolete genetic respiratory malformation +MONDO:0011116 lung agenesis-heart defect-thumb anomalies syndrome MONDO:8000032 Orphanet:1120 Orphanet:377789 obsolete malformation syndrome +MONDO:0011119 iridogoniodysgenesis MONDO:0020216 Orphanet:98634 Orphanet:98631 obsolete secondary dysgenetic glaucoma +MONDO:0011128 Sheldon-hall syndrome MONDO:8000032 Orphanet:1147 Orphanet:377789 obsolete malformation syndrome +MONDO:0011132 T-cell immunodeficiency, congenital alopecia, and nail dystrophy MONDO:0018035 Orphanet:169095 Orphanet:331217 obsolete syndrome with combined immunodeficiency +MONDO:0011133 deaf blind hypopigmentation syndrome, Yemenite type MONDO:0019589 Orphanet:3214 Orphanet:90642 obsolete syndromic genetic hearing loss +MONDO:0011133 deaf blind hypopigmentation syndrome, Yemenite type MONDO:0020253 Orphanet:3214 Orphanet:98683 obsolete syndrome with a symptomatic strabismus +MONDO:0011133 deaf blind hypopigmentation syndrome, Yemenite type MONDO:8000032 Orphanet:3214 Orphanet:377789 obsolete malformation syndrome +MONDO:0011134 Curry-Jones syndrome MONDO:0016055 Orphanet:1553 Orphanet:199639 obsolete syndrome with corpus callosum agenesis /dysgenesis as a major feature +MONDO:0011134 Curry-Jones syndrome MONDO:0035863 Orphanet:1553 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0011134 Curry-Jones syndrome MONDO:8000032 Orphanet:1553 Orphanet:377789 obsolete malformation syndrome +MONDO:0011142 Ehlers-Danlos syndrome, musculocontractural type MONDO:0017742 Orphanet:2953 Orphanet:309450 obsolete disorder of O-xylosylglycan synthesis +MONDO:0011142 Ehlers-Danlos syndrome, musculocontractural type MONDO:0018284 Orphanet:2953 Orphanet:371047 obsolete congenital disorder of glycosylation with neurological involvement +MONDO:0011142 Ehlers-Danlos syndrome, musculocontractural type MONDO:0018290 Orphanet:2953 Orphanet:371183 obsolete congenital disorder of glycosylation with cardiac malformation as a major feature +MONDO:0011142 Ehlers-Danlos syndrome, musculocontractural type MONDO:0018293 Orphanet:2953 Orphanet:371200 obsolete congenital disorder of glycosylation with skin involvement +MONDO:0011142 Ehlers-Danlos syndrome, musculocontractural type MONDO:0018294 Orphanet:2953 Orphanet:371207 obsolete congenital disorder of glycosylation with nephropathy as a major feature +MONDO:0011145 colobomatous microphthalmia - obesity - hypogenitalism - intellectual disability syndrome MONDO:0016565 Orphanet:363741 Orphanet:240371 obsolete syndromic genetic obesity +MONDO:0011145 colobomatous microphthalmia - obesity - hypogenitalism - intellectual disability syndrome MONDO:0035863 Orphanet:363741 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0011146 tetrasomy 12p MONDO:0015216 Orphanet:884 Orphanet:108979 obsolete syndromic diaphragmatic or abdominal wall malformation +MONDO:0011146 tetrasomy 12p MONDO:0015246 Orphanet:884 Orphanet:117573 obsolete syndromic anorectal malformation +MONDO:0011146 tetrasomy 12p MONDO:0015652 Orphanet:884 Orphanet:166469 obsolete chromosomal anomaly with epilepsy as a major feature +MONDO:0011146 tetrasomy 12p MONDO:0015880 Orphanet:884 Orphanet:180779 obsolete syndromic diaphragmatic or thoracic malformation +MONDO:0011146 tetrasomy 12p MONDO:0019717 Orphanet:884 Orphanet:93461 obsolete chromosomal disease with overgrowth +MONDO:0011146 tetrasomy 12p MONDO:8000032 Orphanet:884 Orphanet:377789 obsolete malformation syndrome +MONDO:0011147 chromosome 18q deletion syndrome MONDO:0015501 Orphanet:1600 Orphanet:156237 obsolete syndrome or malformation associated with head and neck malformations +MONDO:0011147 chromosome 18q deletion syndrome MONDO:0020226 Orphanet:1600 Orphanet:98642 obsolete chromosomal anomaly with cataract +MONDO:0011147 chromosome 18q deletion syndrome MONDO:8000032 Orphanet:1600 Orphanet:377789 obsolete malformation syndrome +MONDO:0011150 acroosteolysis-keloid-like lesions-premature aging syndrome MONDO:0031689 Orphanet:363665 Orphanet:363245 obsolete genetic progeroid syndrome +MONDO:0011152 PHGDH deficiency MONDO:8000031 Orphanet:79351 Orphanet:557494 obsolete subtype of a disorder +MONDO:0011154 acrofacial dysostosis, Palagonia type MONDO:0015334 Orphanet:1787 Orphanet:139036 obsolete branchial arch or oral-acral syndrome +MONDO:0011154 acrofacial dysostosis, Palagonia type MONDO:0026189 Orphanet:1787 Orphanet:183576 obsolete genetic branchial arch or oral-acral syndrome +MONDO:0011154 acrofacial dysostosis, Palagonia type MONDO:8000032 Orphanet:1787 Orphanet:377789 obsolete malformation syndrome +MONDO:0011156 progressive familial intrahepatic cholestasis type 2 MONDO:8000031 Orphanet:79304 Orphanet:557494 obsolete subtype of a disorder +MONDO:0011157 Gomez-Lopez-Hernandez syndrome MONDO:0017118 Orphanet:1532 Orphanet:269523 obsolete syndrome with a cerebellar malformation as major feature +MONDO:0011157 Gomez-Lopez-Hernandez syndrome MONDO:8000032 Orphanet:1532 Orphanet:377789 obsolete malformation syndrome +MONDO:0011166 lymphedema-atrial septal defects-facial changes syndrome MONDO:0035470 Orphanet:86915 Orphanet:568044 obsolete primary lymphedema with systemic or visceral involvement +MONDO:0011166 lymphedema-atrial septal defects-facial changes syndrome MONDO:8000032 Orphanet:86915 Orphanet:377789 obsolete malformation syndrome +MONDO:0011169 keratosis linearis-ichthyosis congenita-sclerosing keratoderma syndrome MONDO:0017262 Orphanet:281201 Orphanet:281082 obsolete inherited non-syndromic ichthyosis +MONDO:0011169 keratosis linearis-ichthyosis congenita-sclerosing keratoderma syndrome MONDO:0017670 Orphanet:281201 Orphanet:307773 obsolete autosomal dominant diffuse mutilating palmoplantar keratoderma +MONDO:0011171 odonto-tricho-ungual-digito-palmar syndrome MONDO:0015336 Orphanet:69082 Orphanet:139042 obsolete malformation syndrome with odontal and/or periodontal component +MONDO:0011171 odonto-tricho-ungual-digito-palmar syndrome MONDO:0026190 Orphanet:69082 Orphanet:183580 obsolete genetic malformation syndrome with odontal and/or periodontal component +MONDO:0011171 odonto-tricho-ungual-digito-palmar syndrome MONDO:8000032 Orphanet:69082 Orphanet:377789 obsolete malformation syndrome +MONDO:0011176 intestinal hypomagnesemia 1 MONDO:0019744 Orphanet:30924 Orphanet:93603 obsolete rare renal tubular disease +MONDO:0011184 childhood apraxia of speech MONDO:0019117 Orphanet:209908 Orphanet:71859 obsolete genetic nervous system disorder +MONDO:0011190 nephronophthisis 2 MONDO:8000031 Orphanet:93591 Orphanet:557494 obsolete subtype of a disorder +MONDO:0011197 hereditary thermosensitive neuropathy MONDO:0015359 Orphanet:84093 Orphanet:140453 obsolete autosomal dominant hereditary demyelinating motor and sensory neuropathy +MONDO:0011202 RHYNS syndrome MONDO:0020240 Orphanet:140976 Orphanet:98661 obsolete syndromic retinitis pigmentosa +MONDO:0011202 RHYNS syndrome MONDO:0022409 Orphanet:140976 Orphanet:156162 obsolete nephropathy-associated ciliopathy +MONDO:0011208 malignant atrophic papulosis MONDO:0028795 Orphanet:679 Orphanet:271870 obsolete rare genetic systemic or rheumatologic disease +MONDO:0011208 malignant atrophic papulosis MONDO:8000031 Orphanet:679 Orphanet:557494 obsolete subtype of a disorder +MONDO:0011211 axial spondylometaphyseal dysplasia MONDO:0020240 Orphanet:168549 Orphanet:98661 obsolete syndromic retinitis pigmentosa +MONDO:0011213 Pierpont syndrome MONDO:0035863 Orphanet:487825 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0011213 Pierpont syndrome MONDO:8000032 Orphanet:487825 Orphanet:377789 obsolete malformation syndrome +MONDO:0011214 progressive familial intrahepatic cholestasis type 3 MONDO:8000031 Orphanet:79305 Orphanet:557494 obsolete subtype of a disorder +MONDO:0011215 osteocraniostenosis MONDO:0019699 Orphanet:2763 Orphanet:93440 obsolete slender bone dysplasia +MONDO:0011215 osteocraniostenosis MONDO:0020018 Orphanet:2763 Orphanet:98038 obsolete cranial malformation +MONDO:0011215 osteocraniostenosis MONDO:0026182 Orphanet:2763 Orphanet:183542 obsolete genetic cranial malformation +MONDO:0011215 osteocraniostenosis MONDO:8000032 Orphanet:2763 Orphanet:377789 obsolete malformation syndrome +MONDO:0011217 desmosterolosis MONDO:0035863 Orphanet:35107 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0011218 autosomal recessive congenital ichthyosis 11 MONDO:0017271 Orphanet:91132 Orphanet:281222 obsolete autosomal ichthyosis syndrome with prominent hair abnormalities +MONDO:0011218 autosomal recessive congenital ichthyosis 11 MONDO:0021034 Orphanet:91132 Orphanet:481771 obsolete hereditary alopecia +MONDO:0011219 Fried's tooth and nail syndrome MONDO:8000032 Orphanet:99672 Orphanet:377789 obsolete malformation syndrome +MONDO:0011223 amyotrophic lateral sclerosis type 4 MONDO:0015918 Orphanet:357043 Orphanet:182070 obsolete rare neurodegenerative disease +MONDO:0011227 short stature-auditory canal atresia-mandibular hypoplasia-skeletal anomalies syndrome MONDO:0015329 Orphanet:397623 Orphanet:139021 obsolete malformation syndrome with short stature +MONDO:0011227 short stature-auditory canal atresia-mandibular hypoplasia-skeletal anomalies syndrome MONDO:0015502 Orphanet:397623 Orphanet:156243 obsolete pinnae and external auditory canal anomaly +MONDO:0011227 short stature-auditory canal atresia-mandibular hypoplasia-skeletal anomalies syndrome MONDO:0019589 Orphanet:397623 Orphanet:90642 obsolete syndromic genetic hearing loss +MONDO:0011227 short stature-auditory canal atresia-mandibular hypoplasia-skeletal anomalies syndrome MONDO:0019697 Orphanet:397623 Orphanet:93438 obsolete mesomelic and rhizo-mesomelic dysplasia +MONDO:0011227 short stature-auditory canal atresia-mandibular hypoplasia-skeletal anomalies syndrome MONDO:0026187 Orphanet:397623 Orphanet:183570 obsolete genetic malformation syndrome with short stature +MONDO:0011227 short stature-auditory canal atresia-mandibular hypoplasia-skeletal anomalies syndrome MONDO:0043008 Orphanet:397623 Orphanet:330206 obsolete genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability +MONDO:0011227 short stature-auditory canal atresia-mandibular hypoplasia-skeletal anomalies syndrome MONDO:8000032 Orphanet:397623 Orphanet:377789 obsolete malformation syndrome +MONDO:0011229 ethylmalonic encephalopathy MONDO:0016803 Orphanet:51188 Orphanet:254837 obsolete unspecified inborn mitochondrial disorder +MONDO:0011229 ethylmalonic encephalopathy MONDO:0035862 Orphanet:51188 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome +MONDO:0011235 pelvic dysplasia-arthrogryposis of lower limbs syndrome MONDO:0019711 Orphanet:2840 Orphanet:93454 obsolete dysostosis with predominant vertebral and costal involvement +MONDO:0011235 pelvic dysplasia-arthrogryposis of lower limbs syndrome MONDO:8000032 Orphanet:2840 Orphanet:377789 obsolete malformation syndrome +MONDO:0011240 megalencephaly-capillary malformation-polymicrogyria syndrome MONDO:0015945 Orphanet:60040 Orphanet:183422 obsolete polymalformative genetic syndrome with increased risk of developing cancer +MONDO:0011240 megalencephaly-capillary malformation-polymicrogyria syndrome MONDO:0015948 Orphanet:60040 Orphanet:183478 obsolete rare genetic skin vascular disorder +MONDO:0011240 megalencephaly-capillary malformation-polymicrogyria syndrome MONDO:0018719 Orphanet:60040 Orphanet:458830 obsolete obsolete rare capillary malformation with associated anomalies +MONDO:0011240 megalencephaly-capillary malformation-polymicrogyria syndrome MONDO:0035162 Orphanet:60040 Orphanet:530313 obsolete PIK3CA-related overgrowth syndrome +MONDO:0011240 megalencephaly-capillary malformation-polymicrogyria syndrome MONDO:0035863 Orphanet:60040 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0011240 megalencephaly-capillary malformation-polymicrogyria syndrome MONDO:8000032 Orphanet:60040 Orphanet:377789 obsolete malformation syndrome +MONDO:0011243 grange syndrome MONDO:0015332 Orphanet:79094 Orphanet:139030 obsolete rare developmental defect with connective tissue involvement +MONDO:0011243 grange syndrome MONDO:0035863 Orphanet:79094 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0011243 grange syndrome MONDO:0043008 Orphanet:79094 Orphanet:330206 obsolete genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability +MONDO:0011243 grange syndrome MONDO:8000032 Orphanet:79094 Orphanet:377789 obsolete malformation syndrome +MONDO:0011244 Marshall-Smith syndrome MONDO:0035863 Orphanet:561 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0011244 Marshall-Smith syndrome MONDO:0800091 Orphanet:561 Orphanet:498448 obsolete overgrowth or tall stature syndrome with skeletal involvement +MONDO:0011244 Marshall-Smith syndrome MONDO:8000032 Orphanet:561 Orphanet:377789 obsolete malformation syndrome +MONDO:0011246 megaconial type congenital muscular dystrophy MONDO:0018120 Orphanet:280671 Orphanet:352312 obsolete disorder of phospholipids, sphingolipids and fatty acids biosynthesis with skeletal muscle predominant involvement +MONDO:0011248 distal monosomy 13q MONDO:0015246 Orphanet:1590 Orphanet:117573 obsolete syndromic anorectal malformation +MONDO:0011248 distal monosomy 13q MONDO:0020226 Orphanet:1590 Orphanet:98642 obsolete chromosomal anomaly with cataract +MONDO:0011248 distal monosomy 13q MONDO:8000032 Orphanet:1590 Orphanet:377789 obsolete malformation syndrome +MONDO:0011253 craniomicromelic syndrome MONDO:8000032 Orphanet:1524 Orphanet:377789 obsolete malformation syndrome +MONDO:0011255 mandibulofacial dysostosis-macroblepharon-macrostomia syndrome MONDO:0015334 Orphanet:357158 Orphanet:139036 obsolete branchial arch or oral-acral syndrome +MONDO:0011255 mandibulofacial dysostosis-macroblepharon-macrostomia syndrome MONDO:0026189 Orphanet:357158 Orphanet:183576 obsolete genetic branchial arch or oral-acral syndrome +MONDO:0011257 MPI-congenital disorder of glycosylation MONDO:0018288 Orphanet:79319 Orphanet:371157 obsolete congenital disorder of glycosylation with hepatic involvement +MONDO:0011257 MPI-congenital disorder of glycosylation MONDO:0018291 Orphanet:79319 Orphanet:371188 obsolete congenital disorder of glycosylation with intestinal involvement +MONDO:0011257 MPI-congenital disorder of glycosylation MONDO:0035862 Orphanet:79319 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome +MONDO:0011261 spondyloepiphyseal dysplasia with coronal craniosynostosis, cataracts, cleft palate, and intellectual disability MONDO:0015335 Orphanet:163649 Orphanet:139039 obsolete Mendelian syndromes with cleft lip/palate +MONDO:0011261 spondyloepiphyseal dysplasia with coronal craniosynostosis, cataracts, cleft palate, and intellectual disability MONDO:0035863 Orphanet:163649 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0011262 camptodactyly, myopia, and fibrosis of the medial rectus muscle of eye MONDO:0018235 Orphanet:1323 Orphanet:364568 obsolete dysostosis with limb anomaly as a major feature +MONDO:0011262 camptodactyly, myopia, and fibrosis of the medial rectus muscle of eye MONDO:0020169 Orphanet:1323 Orphanet:98578 obsolete rare disorder with ptosis +MONDO:0011262 camptodactyly, myopia, and fibrosis of the medial rectus muscle of eye MONDO:0043008 Orphanet:1323 Orphanet:330206 obsolete genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability +MONDO:0011262 camptodactyly, myopia, and fibrosis of the medial rectus muscle of eye MONDO:8000032 Orphanet:1323 Orphanet:377789 obsolete malformation syndrome +MONDO:0011266 myotonic dystrophy type 2 MONDO:0015906 Orphanet:606 Orphanet:181441 obsolete rare disorder with hypergonadotropic hypogonadism +MONDO:0011266 myotonic dystrophy type 2 MONDO:0020169 Orphanet:606 Orphanet:98578 obsolete rare disorder with ptosis +MONDO:0011266 myotonic dystrophy type 2 MONDO:0020225 Orphanet:606 Orphanet:98641 obsolete syndromic cataract +MONDO:0011273 H syndrome MONDO:0015886 Orphanet:168569 Orphanet:181371 obsolete rare diabetes mellitus type 1 +MONDO:0011273 H syndrome MONDO:0019589 Orphanet:168569 Orphanet:90642 obsolete syndromic genetic hearing loss +MONDO:0011273 H syndrome MONDO:8000032 Orphanet:168569 Orphanet:377789 obsolete malformation syndrome +MONDO:0011274 Muenke syndrome MONDO:0035863 Orphanet:53271 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0011274 Muenke syndrome MONDO:8000032 Orphanet:53271 Orphanet:377789 obsolete malformation syndrome +MONDO:0011275 acromesomelic dysplasia 1, Maroteaux type MONDO:8000032 Orphanet:40 Orphanet:377789 obsolete malformation syndrome +MONDO:0011287 craniosynostosis-anal anomalies-porokeratosis syndrome MONDO:0019709 Orphanet:85199 Orphanet:93451 obsolete cleidocranial dysplasia and isolated cranial ossification defect +MONDO:0011287 craniosynostosis-anal anomalies-porokeratosis syndrome MONDO:8000032 Orphanet:85199 Orphanet:377789 obsolete malformation syndrome +MONDO:0011291 ALG6-congenital disorder of glycosylation 1C MONDO:0018287 Orphanet:79320 Orphanet:371071 obsolete congenital disorder of glycosylation with epilepsy as a major feature +MONDO:0011291 ALG6-congenital disorder of glycosylation 1C MONDO:0018291 Orphanet:79320 Orphanet:371188 obsolete congenital disorder of glycosylation with intestinal involvement +MONDO:0011291 ALG6-congenital disorder of glycosylation 1C MONDO:0035862 Orphanet:79320 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome +MONDO:0011299 Huntington disease-like 1 MONDO:0017234 Orphanet:157941 Orphanet:280400 obsolete inherited prion disease +MONDO:0011299 Huntington disease-like 1 MONDO:0017646 Orphanet:157941 Orphanet:306719 obsolete neurodegenerative disease with chorea +MONDO:0011301 pseudohypoparathyroidism type 1B MONDO:0018700 Orphanet:94089 Orphanet:457062 obsolete pseudohypoparathyroidism without Albright hereditary osteodystrophy +MONDO:0011308 GRACILE syndrome MONDO:0015115 Orphanet:53693 Orphanet:101940 obsolete rare genetic metabolic liver disease +MONDO:0011308 GRACILE syndrome MONDO:0017718 Orphanet:53693 Orphanet:309136 obsolete mitochondrial disorder due to a defect in assembly or maturation of the respiratory chain complexes +MONDO:0011309 familial gestational hyperthyroidism MONDO:0015582 Orphanet:99819 Orphanet:163637 obsolete rare disorder related with pregnancy, childbirth and puerperium +MONDO:0011309 familial gestational hyperthyroidism MONDO:0015894 Orphanet:99819 Orphanet:181399 obsolete rare hyperthyroidism +MONDO:0011320 radioulnar synostosis-microcephaly-scoliosis syndrome MONDO:0800095 Orphanet:3268 Orphanet:93459 obsolete syndrome with synostosis or other joint formation defect +MONDO:0011320 radioulnar synostosis-microcephaly-scoliosis syndrome MONDO:8000032 Orphanet:3268 Orphanet:377789 obsolete malformation syndrome +MONDO:0011327 neuronal intranuclear inclusion disease MONDO:0015918 Orphanet:2289 Orphanet:182070 obsolete rare neurodegenerative disease +MONDO:0011327 neuronal intranuclear inclusion disease MONDO:0017641 Orphanet:2289 Orphanet:306695 obsolete miscellaneous movement disorder due to neurodegenerative disease +MONDO:0011327 neuronal intranuclear inclusion disease MONDO:0017662 Orphanet:2289 Orphanet:307058 obsolete miscellaneous movement disorder due to genetic neurodegenerative disease +MONDO:0011327 neuronal intranuclear inclusion disease MONDO:0019515 Orphanet:2289 Orphanet:89043 obsolete rare dementia +MONDO:0011331 congenital chylothorax MONDO:0017017 Orphanet:264688 Orphanet:264683 obsolete primary interstitial lung disease specific to childhood due to alveolar vascular disorder +MONDO:0011334 limb-mammary syndrome MONDO:0015853 Orphanet:69085 Orphanet:180173 obsolete deficient breast volume or number +MONDO:0011334 limb-mammary syndrome MONDO:0020197 Orphanet:69085 Orphanet:98609 obsolete EEC syndrome and related syndrome +MONDO:0011334 limb-mammary syndrome MONDO:0800090 Orphanet:69085 Orphanet:498477 obsolete ectrodactyly with and without other manifestations +MONDO:0011334 limb-mammary syndrome MONDO:8000032 Orphanet:69085 Orphanet:377789 obsolete malformation syndrome +MONDO:0011335 spondyloepimetaphyseal dysplasia with multiple dislocations MONDO:0800086 Orphanet:93360 Orphanet:93441 obsolete primary bone dysplasia with multiple joint dislocations +MONDO:0011339 hereditary spastic paraplegia 8 MONDO:0017914 Orphanet:100989 Orphanet:320342 obsolete pure or complex autosomal dominant spastic paraplegia +MONDO:0011340 congenital tracheal stenosis MONDO:0015505 Orphanet:141127 Orphanet:156252 obsolete tracheal anomaly +MONDO:0011340 congenital tracheal stenosis MONDO:0033336 Orphanet:141127 Orphanet:435612 obsolete genetic tracheal anomaly +MONDO:0011340 congenital tracheal stenosis MONDO:8000030 Orphanet:141127 Orphanet:377791 obsolete morphological anomaly +MONDO:0011342 SLC35A1-congenital disorder of glycosylation MONDO:0018287 Orphanet:238459 Orphanet:371071 obsolete congenital disorder of glycosylation with epilepsy as a major feature +MONDO:0011342 SLC35A1-congenital disorder of glycosylation MONDO:0018294 Orphanet:238459 Orphanet:371207 obsolete congenital disorder of glycosylation with nephropathy as a major feature +MONDO:0011342 SLC35A1-congenital disorder of glycosylation MONDO:0035862 Orphanet:238459 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome +MONDO:0011346 xanthinuria type II MONDO:8000031 Orphanet:93602 Orphanet:557494 obsolete subtype of a disorder +MONDO:0011348 non-syndromic polydactyly MONDO:0019714 Orphanet:2913 Orphanet:93458 obsolete non-syndromic polydactyly, syndactyly and/or hyperphalangy +MONDO:0011359 acromelic frontonasal dysostosis MONDO:0035863 Orphanet:1827 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0011359 acromelic frontonasal dysostosis MONDO:8000032 Orphanet:1827 Orphanet:377789 obsolete malformation syndrome +MONDO:0011365 blepharophimosis - intellectual disability syndrome, SBBYS type MONDO:0015778 Orphanet:3047 Orphanet:177107 obsolete syndromic hypothyroidism +MONDO:0011365 blepharophimosis - intellectual disability syndrome, SBBYS type MONDO:8000032 Orphanet:3047 Orphanet:377789 obsolete malformation syndrome +MONDO:0011381 dominant beta-thalassemia MONDO:8000031 Orphanet:231226 Orphanet:557494 obsolete subtype of a disorder +MONDO:0011382 sickle cell anemia MONDO:0017146 Orphanet:232 Orphanet:275752 obsolete sickle cell disease and related diseases +MONDO:0011382 sickle cell anemia MONDO:0018377 Orphanet:232 Orphanet:399185 obsolete rare hereditary disease with avascular necrosis +MONDO:0011382 sickle cell anemia MONDO:0018792 Orphanet:232 Orphanet:477771 obsolete Moyamoya syndrome +MONDO:0011382 sickle cell anemia MONDO:0019747 Orphanet:232 Orphanet:93614 obsolete hematological disorder with renal involvement +MONDO:0011396 loricrin keratoderma MONDO:0017262 Orphanet:79395 Orphanet:281082 obsolete inherited non-syndromic ichthyosis +MONDO:0011396 loricrin keratoderma MONDO:0017670 Orphanet:79395 Orphanet:307773 obsolete autosomal dominant diffuse mutilating palmoplantar keratoderma +MONDO:0011397 autosomal dominant cerebellar ataxia, deafness and narcolepsy MONDO:0019045 Orphanet:314404 Orphanet:68354 obsolete rare sleep disorder +MONDO:0011397 autosomal dominant cerebellar ataxia, deafness and narcolepsy MONDO:0019589 Orphanet:314404 Orphanet:90642 obsolete syndromic genetic hearing loss +MONDO:0011399 alpha thalassemia MONDO:0017144 Orphanet:846 Orphanet:275745 obsolete alpha-thalassemia and related diseases +MONDO:0011399 alpha thalassemia MONDO:0019747 Orphanet:846 Orphanet:93614 obsolete hematological disorder with renal involvement +MONDO:0011402 congenital cataracts-facial dysmorphism-neuropathy syndrome MONDO:0015361 Orphanet:48431 Orphanet:140459 obsolete autosomal recessive hereditary demyelinating motor and sensory neuropathy +MONDO:0011402 congenital cataracts-facial dysmorphism-neuropathy syndrome MONDO:0016136 Orphanet:48431 Orphanet:207028 obsolete cerebellar ataxia with peripheral neuropathy +MONDO:0011402 congenital cataracts-facial dysmorphism-neuropathy syndrome MONDO:0020165 Orphanet:48431 Orphanet:98574 obsolete syndromic epicanthus +MONDO:0011402 congenital cataracts-facial dysmorphism-neuropathy syndrome MONDO:0020225 Orphanet:48431 Orphanet:98641 obsolete syndromic cataract +MONDO:0011402 congenital cataracts-facial dysmorphism-neuropathy syndrome MONDO:0035863 Orphanet:48431 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0011402 congenital cataracts-facial dysmorphism-neuropathy syndrome MONDO:8000032 Orphanet:48431 Orphanet:377789 obsolete malformation syndrome +MONDO:0011405 poikiloderma with neutropenia MONDO:0018032 Orphanet:221046 Orphanet:331184 obsolete constitutional neutropenia with extra-hematopoietic manifestations +MONDO:0011408 hereditary spastic paraplegia 10 MONDO:0017914 Orphanet:100991 Orphanet:320342 obsolete pure or complex autosomal dominant spastic paraplegia +MONDO:0011408 hereditary spastic paraplegia 10 MONDO:0035862 Orphanet:100991 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome +MONDO:0011411 Chudley-McCullough syndrome MONDO:0017118 Orphanet:314597 Orphanet:269523 obsolete syndrome with a cerebellar malformation as major feature +MONDO:0011411 Chudley-McCullough syndrome MONDO:0017120 Orphanet:314597 Orphanet:269531 obsolete other syndrome with a central nervous system malformation as major feature +MONDO:0011411 Chudley-McCullough syndrome MONDO:0019589 Orphanet:314597 Orphanet:90642 obsolete syndromic genetic hearing loss +MONDO:0011411 Chudley-McCullough syndrome MONDO:8000032 Orphanet:314597 Orphanet:377789 obsolete malformation syndrome +MONDO:0011412 familial encephalopathy with neuroserpin inclusion bodies MONDO:0027750 Orphanet:85110 Orphanet:250808 obsolete serpinopathy with toxic serpin polymerization +MONDO:0011414 Peters anomaly MONDO:8000030 Orphanet:708 Orphanet:377791 obsolete morphological anomaly +MONDO:0011422 autosomal recessive proximal renal tubular acidosis MONDO:0035862 Orphanet:93607 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome +MONDO:0011422 autosomal recessive proximal renal tubular acidosis MONDO:8000031 Orphanet:93607 Orphanet:557494 obsolete subtype of a disorder +MONDO:0011423 autosomal recessive limb-girdle muscular dystrophy type 2E MONDO:0016334 Orphanet:119 Orphanet:217610 obsolete neuromuscular disease with dilated cardiomyopathy +MONDO:0011426 aceruloplasminemia MONDO:0020098 Orphanet:48818 Orphanet:98360 obsolete constitutional anemia due to iron metabolism disorder +MONDO:0011426 aceruloplasminemia MONDO:0034953 Orphanet:48818 Orphanet:519325 obsolete syndromic inherited retinal disorder +MONDO:0011429 juvenile idiopathic arthritis MONDO:0015940 Orphanet:92 Orphanet:182231 obsolete rare rheumatologic disease +MONDO:0011429 juvenile idiopathic arthritis MONDO:0017021 Orphanet:92 Orphanet:264704 obsolete secondary interstitial lung disease specific to childhood associated with a connective tissue disease +MONDO:0011432 blepharophimosis - intellectual disability syndrome, Verloes type MONDO:8000032 Orphanet:293725 Orphanet:377789 obsolete malformation syndrome +MONDO:0011441 complex regional pain syndrome type 1 MONDO:8000031 Orphanet:99995 Orphanet:557494 obsolete subtype of a disorder +MONDO:0011445 hereditary spastic paraplegia 11 MONDO:0017915 Orphanet:2822 Orphanet:320346 obsolete pure or complex autosomal recessive spastic paraplegia +MONDO:0011445 hereditary spastic paraplegia 11 MONDO:0035862 Orphanet:2822 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome +MONDO:0011449 Salla disease MONDO:8000031 Orphanet:309334 Orphanet:557494 obsolete subtype of a disorder +MONDO:0011454 patent ductus arteriosus-bicuspid aortic valve-hand anomalies syndrome MONDO:0015506 Orphanet:228190 Orphanet:156532 obsolete rare syndrome with cardiac malformations +MONDO:0011454 patent ductus arteriosus-bicuspid aortic valve-hand anomalies syndrome MONDO:8000032 Orphanet:228190 Orphanet:377789 obsolete malformation syndrome +MONDO:0011462 pyogenic arthritis-pyoderma gangrenosum-acne syndrome MONDO:0957404 Orphanet:69126 Orphanet:324942 obsolete pyogenic autoinflammatory syndrome of childhood +MONDO:0011463 polyneuropathy, lethal neonatal, axonal sensorimotor, autosomal recessive MONDO:0019601 Orphanet:538096 Orphanet:91024 obsolete autosomal recessive axonal hereditary motor and sensory neuropathy +MONDO:0011468 hereditary motor and sensory neuropathy, Okinawa type MONDO:0015360 Orphanet:90117 Orphanet:140456 obsolete autosomal dominant hereditary axonal motor and sensory neuropathy +MONDO:0011469 congenital amegakaryocytic thrombocytopenia MONDO:0018796 Orphanet:3319 Orphanet:477797 obsolete isolated constitutional thrombocytopenia +MONDO:0011479 postural orthostatic tachycardia syndrome MONDO:0035013 Orphanet:443236 Orphanet:521232 obsolete genetic primary orthostatic disorder +MONDO:0011479 postural orthostatic tachycardia syndrome MONDO:0035014 Orphanet:443236 Orphanet:521236 obsolete primary orthostatic disorder +MONDO:0011481 craniosynostosis 2 MONDO:8000032 Orphanet:1541 Orphanet:377789 obsolete malformation syndrome +MONDO:0011487 Huntington disease-like 3 MONDO:0015918 Orphanet:157946 Orphanet:182070 obsolete rare neurodegenerative disease +MONDO:0011487 Huntington disease-like 3 MONDO:0017641 Orphanet:157946 Orphanet:306695 obsolete miscellaneous movement disorder due to neurodegenerative disease +MONDO:0011487 Huntington disease-like 3 MONDO:0017662 Orphanet:157946 Orphanet:307058 obsolete miscellaneous movement disorder due to genetic neurodegenerative disease +MONDO:0011489 hereditary spastic paraplegia 12 MONDO:0015088 Orphanet:100993 Orphanet:100980 obsolete autosomal dominant pure spastic paraplegia +MONDO:0011490 diffuse panbronchiolitis MONDO:0015118 Orphanet:171700 Orphanet:101944 obsolete rare pulmonary disease +MONDO:0011493 Stickler syndrome type 2 MONDO:0020232 Orphanet:90654 Orphanet:98648 obsolete musculoskeletal disease with cataract +MONDO:0011493 Stickler syndrome type 2 MONDO:0800087 Orphanet:90654 Orphanet:93422 obsolete type 11 collagen-related bone disorder +MONDO:0011493 Stickler syndrome type 2 MONDO:8000031 Orphanet:90654 Orphanet:557494 obsolete subtype of a disorder +MONDO:0011497 hereditary North American Indian childhood cirrhosis MONDO:8000031 Orphanet:168583 Orphanet:557494 obsolete subtype of a disorder +MONDO:0011500 Becker nevus syndrome MONDO:0015853 Orphanet:64755 Orphanet:180173 obsolete deficient breast volume or number +MONDO:0011500 Becker nevus syndrome MONDO:0017414 Orphanet:64755 Orphanet:294057 obsolete rare nevus +MONDO:0011500 Becker nevus syndrome MONDO:0020063 Orphanet:64755 Orphanet:98196 obsolete malformation syndrome with hamartosis +MONDO:0011501 wormian bone-multiple fractures-dentinogenesis imperfecta-skeletal dysplasia MONDO:0015877 Orphanet:166277 Orphanet:180766 obsolete malformative syndrome with dentinogenesis imperfecta +MONDO:0011501 wormian bone-multiple fractures-dentinogenesis imperfecta-skeletal dysplasia MONDO:0019704 Orphanet:166277 Orphanet:93446 obsolete primary bone dysplasia with decreased bone density +MONDO:0011501 wormian bone-multiple fractures-dentinogenesis imperfecta-skeletal dysplasia MONDO:0026190 Orphanet:166277 Orphanet:183580 obsolete genetic malformation syndrome with odontal and/or periodontal component +MONDO:0011501 wormian bone-multiple fractures-dentinogenesis imperfecta-skeletal dysplasia MONDO:8000032 Orphanet:166277 Orphanet:377789 obsolete malformation syndrome +MONDO:0011504 NDE1-related microhydranencephaly MONDO:0017118 Orphanet:443162 Orphanet:269523 obsolete syndrome with a cerebellar malformation as major feature +MONDO:0011504 NDE1-related microhydranencephaly MONDO:0017119 Orphanet:443162 Orphanet:269528 obsolete syndrome with microcephaly as major feature +MONDO:0011504 NDE1-related microhydranencephaly MONDO:0017120 Orphanet:443162 Orphanet:269531 obsolete other syndrome with a central nervous system malformation as major feature +MONDO:0011504 NDE1-related microhydranencephaly MONDO:8000032 Orphanet:443162 Orphanet:377789 obsolete malformation syndrome +MONDO:0011506 familial infantile myoclonic epilepsy MONDO:0035862 Orphanet:352582 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome +MONDO:0011510 Bohring-Opitz syndrome MONDO:0035863 Orphanet:97297 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0011510 Bohring-Opitz syndrome MONDO:8000032 Orphanet:97297 Orphanet:377789 obsolete malformation syndrome +MONDO:0011512 Brooke-Spiegler syndrome MONDO:0015950 Orphanet:79493 Orphanet:183487 obsolete inherited skin tumor +MONDO:0011512 Brooke-Spiegler syndrome MONDO:0019300 Orphanet:79493 Orphanet:79386 obsolete rare skin tumor or hamartoma +MONDO:0011514 tricuspid atresia MONDO:8000030 Orphanet:1209 Orphanet:377791 obsolete morphological anomaly +MONDO:0011517 pseudohyperaldosteronism type 2 MONDO:0015512 Orphanet:88660 Orphanet:156629 obsolete genetic hypertension +MONDO:0011517 pseudohyperaldosteronism type 2 MONDO:0015582 Orphanet:88660 Orphanet:163637 obsolete rare disorder related with pregnancy, childbirth and puerperium +MONDO:0011518 Wiedemann-Steiner syndrome MONDO:0035863 Orphanet:319182 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0011518 Wiedemann-Steiner syndrome MONDO:8000032 Orphanet:319182 Orphanet:377789 obsolete malformation syndrome +MONDO:0011522 hereditary spastic paraplegia 14 MONDO:0017915 Orphanet:100995 Orphanet:320346 obsolete pure or complex autosomal recessive spastic paraplegia +MONDO:0011528 hyper-IgM syndrome type 2 MONDO:0015976 Orphanet:101089 Orphanet:183666 obsolete hyper-IgM syndrome without susceptibility to opportunistic infections +MONDO:0011528 hyper-IgM syndrome type 2 MONDO:8000031 Orphanet:101089 Orphanet:557494 obsolete subtype of a disorder +MONDO:0011530 mesomelic dysplasia, Savarirayan type MONDO:0019697 Orphanet:85170 Orphanet:93438 obsolete mesomelic and rhizo-mesomelic dysplasia +MONDO:0011530 mesomelic dysplasia, Savarirayan type MONDO:8000032 Orphanet:85170 Orphanet:377789 obsolete malformation syndrome +MONDO:0011532 hereditary spastic paraplegia 13 MONDO:0017914 Orphanet:100994 Orphanet:320342 obsolete pure or complex autosomal dominant spastic paraplegia +MONDO:0011533 temtamy preaxial brachydactyly syndrome MONDO:0015336 Orphanet:363417 Orphanet:139042 obsolete malformation syndrome with odontal and/or periodontal component +MONDO:0011533 temtamy preaxial brachydactyly syndrome MONDO:0017742 Orphanet:363417 Orphanet:309450 obsolete disorder of O-xylosylglycan synthesis +MONDO:0011533 temtamy preaxial brachydactyly syndrome MONDO:0018284 Orphanet:363417 Orphanet:371047 obsolete congenital disorder of glycosylation with neurological involvement +MONDO:0011533 temtamy preaxial brachydactyly syndrome MONDO:0018292 Orphanet:363417 Orphanet:371195 obsolete congenital disorder of glycosylation-related bone disorder +MONDO:0011533 temtamy preaxial brachydactyly syndrome MONDO:0018295 Orphanet:363417 Orphanet:371212 obsolete congenital disorder of glycosylation with deafness as a major feature +MONDO:0011533 temtamy preaxial brachydactyly syndrome MONDO:0035862 Orphanet:363417 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome +MONDO:0011533 temtamy preaxial brachydactyly syndrome MONDO:0800094 Orphanet:363417 Orphanet:498454 obsolete dysostosis with brachydactyly with extraskeletal manifestations +MONDO:0011533 temtamy preaxial brachydactyly syndrome MONDO:8000032 Orphanet:363417 Orphanet:377789 obsolete malformation syndrome +MONDO:0011537 macrocephaly-autism syndrome MONDO:0015878 Orphanet:210548 Orphanet:180772 obsolete rare disease with autism +MONDO:0011537 macrocephaly-autism syndrome MONDO:0017120 Orphanet:210548 Orphanet:269531 obsolete other syndrome with a central nervous system malformation as major feature +MONDO:0011537 macrocephaly-autism syndrome MONDO:0035863 Orphanet:210548 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0011539 nemaline myopathy 5 MONDO:0017302 Orphanet:98902 Orphanet:284786 obsolete qualitative or quantitative defects of troponin +MONDO:0011539 nemaline myopathy 5 MONDO:0018701 Orphanet:98902 Orphanet:457074 obsolete congenital nemaline myopathy +MONDO:0011540 spinocerebellar ataxia type 14 MONDO:0035862 Orphanet:98763 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome +MONDO:0011541 dilated cardiomyopathy 1J MONDO:0016337 Orphanet:217622 Orphanet:217619 obsolete syndrome associated with dilated cardiomyopathy +MONDO:0011551 TH-deficient dopa-responsive dystonia MONDO:0035862 Orphanet:101150 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome +MONDO:0011555 radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome MONDO:0800095 Orphanet:71289 Orphanet:93459 obsolete syndrome with synostosis or other joint formation defect +MONDO:0011555 radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome MONDO:8000032 Orphanet:71289 Orphanet:377789 obsolete malformation syndrome +MONDO:0011559 benign recurrent intrahepatic cholestasis type 2 MONDO:8000031 Orphanet:99961 Orphanet:557494 obsolete subtype of a disorder +MONDO:0011569 Charcot-Marie-Tooth disease type 2B1 MONDO:0019601 Orphanet:98856 Orphanet:91024 obsolete autosomal recessive axonal hereditary motor and sensory neuropathy +MONDO:0011569 Charcot-Marie-Tooth disease type 2B1 MONDO:0029811 Orphanet:98856 Orphanet:300758 obsolete laminopathy with peripheral neuropathy +MONDO:0011570 Charcot-Marie-Tooth disease type 2B2 MONDO:0019601 Orphanet:101101 Orphanet:91024 obsolete autosomal recessive axonal hereditary motor and sensory neuropathy +MONDO:0011575 cerebrooculonasal syndrome MONDO:0017120 Orphanet:66625 Orphanet:269531 obsolete other syndrome with a central nervous system malformation as major feature +MONDO:0011575 cerebrooculonasal syndrome MONDO:0035863 Orphanet:66625 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0011575 cerebrooculonasal syndrome MONDO:8000032 Orphanet:66625 Orphanet:377789 obsolete malformation syndrome +MONDO:0011576 familial hyperaldosteronism type II MONDO:0025511 Orphanet:404 Orphanet:271847 obsolete inherited neuroendocrine tumor +MONDO:0011578 familial papillary thyroid carcinoma with renal papillary neoplasia MONDO:0017891 Orphanet:97290 Orphanet:319328 obsolete inherited renal cancer-predisposing syndrome +MONDO:0011581 arrhythmogenic cardiomyopathy with wooly hair and keratoderma MONDO:0016337 Orphanet:65282 Orphanet:217619 obsolete syndrome associated with dilated cardiomyopathy +MONDO:0011581 arrhythmogenic cardiomyopathy with wooly hair and keratoderma MONDO:0018558 Orphanet:65282 Orphanet:434809 obsolete syndrome with wooly hair +MONDO:0011581 arrhythmogenic cardiomyopathy with wooly hair and keratoderma MONDO:0020014 Orphanet:65282 Orphanet:98027 obsolete rare disease with odontological manifestation +MONDO:0011581 arrhythmogenic cardiomyopathy with wooly hair and keratoderma MONDO:0020097 Orphanet:65282 Orphanet:98357 obsolete autosomal recessive disease with focal palmoplantar keratoderma as a major feature +MONDO:0011584 Fanconi anemia complementation group D1 MONDO:0017891 Orphanet:319462 Orphanet:319328 obsolete inherited renal cancer-predisposing syndrome +MONDO:0011599 birdshot chorioretinopathy MONDO:0019541 Orphanet:179 Orphanet:90061 obsolete non-infectious posterior uveitis +MONDO:0011603 GNE myopathy MONDO:0016109 Orphanet:602 Orphanet:206653 obsolete autosomal recessive distal myopathy +MONDO:0011603 GNE myopathy MONDO:0016200 Orphanet:602 Orphanet:209203 obsolete qualitative or quantitative defects of glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase +MONDO:0011603 GNE myopathy MONDO:0018284 Orphanet:602 Orphanet:371047 obsolete congenital disorder of glycosylation with neurological involvement +MONDO:0011604 spondylo-ocular syndrome MONDO:0019704 Orphanet:85194 Orphanet:93446 obsolete primary bone dysplasia with decreased bone density +MONDO:0011604 spondylo-ocular syndrome MONDO:0020225 Orphanet:85194 Orphanet:98641 obsolete syndromic cataract +MONDO:0011604 spondylo-ocular syndrome MONDO:0034954 Orphanet:85194 Orphanet:519327 obsolete syndromic vitreoretinopathy +MONDO:0011604 spondylo-ocular syndrome MONDO:0035863 Orphanet:85194 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0011604 spondylo-ocular syndrome MONDO:8000032 Orphanet:85194 Orphanet:377789 obsolete malformation syndrome +MONDO:0011605 generalized basaloid follicular hamartoma syndrome MONDO:0015950 Orphanet:168632 Orphanet:183487 obsolete inherited skin tumor +MONDO:0011605 generalized basaloid follicular hamartoma syndrome MONDO:0019300 Orphanet:168632 Orphanet:79386 obsolete rare skin tumor or hamartoma +MONDO:0011612 glycine encephalopathy MONDO:0016399 Orphanet:407 Orphanet:225689 obsolete amino acid or protein metabolism disease with epilepsy +MONDO:0011612 glycine encephalopathy MONDO:0019058 Orphanet:407 Orphanet:68385 obsolete neurometabolic disease +MONDO:0011612 glycine encephalopathy MONDO:0035862 Orphanet:407 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome +MONDO:0011615 East Texas bleeding disorder MONDO:8000031 Orphanet:391320 Orphanet:557494 obsolete subtype of a disorder +MONDO:0011620 metaphyseal dysplasia, Braun-Tinschert type MONDO:0800084 Orphanet:85188 Orphanet:93444 obsolete primary bone dysplasia with increased bone density +MONDO:0011620 metaphyseal dysplasia, Braun-Tinschert type MONDO:8000032 Orphanet:85188 Orphanet:377789 obsolete malformation syndrome +MONDO:0011621 acropectoral syndrome MONDO:0017434 Orphanet:85203 Orphanet:294959 obsolete syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy +MONDO:0011621 acropectoral syndrome MONDO:8000032 Orphanet:85203 Orphanet:377789 obsolete malformation syndrome +MONDO:0011629 MOGS-congenital disorder of glycosylation MONDO:0018287 Orphanet:79330 Orphanet:371071 obsolete congenital disorder of glycosylation with epilepsy as a major feature +MONDO:0011629 MOGS-congenital disorder of glycosylation MONDO:0018288 Orphanet:79330 Orphanet:371157 obsolete congenital disorder of glycosylation with hepatic involvement +MONDO:0011629 MOGS-congenital disorder of glycosylation MONDO:0035862 Orphanet:79330 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome +MONDO:0011631 hemochromatosis type 4 MONDO:0015115 Orphanet:648562 Orphanet:101940 obsolete rare genetic metabolic liver disease +MONDO:0011640 genitopatellar syndrome MONDO:8000032 Orphanet:85201 Orphanet:377789 obsolete malformation syndrome +MONDO:0011652 Phelan-McDermid syndrome MONDO:0035471 Orphanet:48652 Orphanet:568047 obsolete disorder with multisystemic involvement and primary lymphedema +MONDO:0011652 Phelan-McDermid syndrome MONDO:0035863 Orphanet:48652 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0011652 Phelan-McDermid syndrome MONDO:8000032 Orphanet:48652 Orphanet:377789 obsolete malformation syndrome +MONDO:0011664 immunodeficiency due to CD25 deficiency MONDO:0015709 Orphanet:169100 Orphanet:169355 obsolete immunodeficiency syndrome with autoimmunity +MONDO:0011669 hypotonia-cystinuria syndrome MONDO:0018246 Orphanet:238517 Orphanet:369886 obsolete homozygous 2p21 microdeletion syndrome +MONDO:0011669 hypotonia-cystinuria syndrome MONDO:0019744 Orphanet:238517 Orphanet:93603 obsolete rare renal tubular disease +MONDO:0011670 Ehlers-Danlos syndrome due to tenascin-X deficiency MONDO:0015216 Orphanet:230839 Orphanet:108979 obsolete syndromic diaphragmatic or abdominal wall malformation +MONDO:0011670 Ehlers-Danlos syndrome due to tenascin-X deficiency MONDO:0015669 Orphanet:230839 Orphanet:167762 obsolete rare disease with dentinogenesis imperfecta +MONDO:0011670 Ehlers-Danlos syndrome due to tenascin-X deficiency MONDO:0015880 Orphanet:230839 Orphanet:180779 obsolete syndromic diaphragmatic or thoracic malformation +MONDO:0011676 PHACE syndrome MONDO:0015145 Orphanet:42775 Orphanet:102006 obsolete neurovascular malformation +MONDO:0011676 PHACE syndrome MONDO:0015506 Orphanet:42775 Orphanet:156532 obsolete rare syndrome with cardiac malformations +MONDO:0011676 PHACE syndrome MONDO:0017118 Orphanet:42775 Orphanet:269523 obsolete syndrome with a cerebellar malformation as major feature +MONDO:0011676 PHACE syndrome MONDO:0018718 Orphanet:42775 Orphanet:458827 obsolete vascular tumor with associated anomalies +MONDO:0011676 PHACE syndrome MONDO:0018729 Orphanet:42775 Orphanet:459543 obsolete genetic vascular tumor +MONDO:0011676 PHACE syndrome MONDO:0018792 Orphanet:42775 Orphanet:477771 obsolete Moyamoya syndrome +MONDO:0011676 PHACE syndrome MONDO:0031949 Orphanet:42775 Orphanet:371436 obsolete genetic neurovascular malformation +MONDO:0011676 PHACE syndrome MONDO:0035863 Orphanet:42775 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0011676 PHACE syndrome MONDO:8000032 Orphanet:42775 Orphanet:377789 obsolete malformation syndrome +MONDO:0011683 oculocutaneous albinism type 4 MONDO:0020253 Orphanet:79435 Orphanet:98683 obsolete syndrome with a symptomatic strabismus +MONDO:0011686 DNA ligase IV deficiency MONDO:0015945 Orphanet:99812 Orphanet:183422 obsolete polymalformative genetic syndrome with increased risk of developing cancer +MONDO:0011686 DNA ligase IV deficiency MONDO:0035863 Orphanet:99812 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0011706 Kufor-Rakeb syndrome MONDO:0034901 Orphanet:306674 Orphanet:514980 obsolete ATP13A2-related parkinsonism +MONDO:0011719 gastrointestinal stromal tumor MONDO:0017128 Orphanet:44890 Orphanet:271835 obsolete inherited digestive tract tumor +MONDO:0011721 distal myopathy with anterior tibial onset MONDO:0016109 Orphanet:178400 Orphanet:206653 obsolete autosomal recessive distal myopathy +MONDO:0011722 intellectual disability-obesity-prognathism-eye and skin anomalies syndrome MONDO:0016565 Orphanet:397973 Orphanet:240371 obsolete syndromic genetic obesity +MONDO:0011722 intellectual disability-obesity-prognathism-eye and skin anomalies syndrome MONDO:0035863 Orphanet:397973 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0011723 hemifacial myohyperplasia MONDO:8000032 Orphanet:141148 Orphanet:377789 obsolete malformation syndrome +MONDO:0011724 encephalopathy due to GLUT1 deficiency MONDO:0016406 Orphanet:71277 Orphanet:225713 obsolete other metabolic disease with epilepsy +MONDO:0011724 encephalopathy due to GLUT1 deficiency MONDO:0019058 Orphanet:71277 Orphanet:68385 obsolete neurometabolic disease +MONDO:0011725 Crigler-Najjar syndrome type 2 MONDO:8000031 Orphanet:79235 Orphanet:557494 obsolete subtype of a disorder +MONDO:0011730 fumaric aciduria MONDO:0016402 Orphanet:24 Orphanet:225700 obsolete mitochondrial disease with epilepsy +MONDO:0011730 fumaric aciduria MONDO:0016403 Orphanet:24 Orphanet:225703 obsolete mitochondrial disease with peripheral neuropathy +MONDO:0011730 fumaric aciduria MONDO:0019058 Orphanet:24 Orphanet:68385 obsolete neurometabolic disease +MONDO:0011731 glucose-galactose malabsorption MONDO:0015178 Orphanet:35710 Orphanet:104003 obsolete congenital intestinal transport defect +MONDO:0011732 familial digital arthropathy-brachydactyly MONDO:0800093 Orphanet:85169 Orphanet:498451 obsolete dysostosis with brachydactyly without extraskeletal manifestations +MONDO:0011732 familial digital arthropathy-brachydactyly MONDO:8000032 Orphanet:85169 Orphanet:377789 obsolete malformation syndrome +MONDO:0011735 hyper-IgM syndrome type 3 MONDO:0015975 Orphanet:101090 Orphanet:183663 obsolete hyper-IgM syndrome with susceptibility to opportunistic infections +MONDO:0011735 hyper-IgM syndrome type 3 MONDO:8000031 Orphanet:101090 Orphanet:557494 obsolete subtype of a disorder +MONDO:0011738 bilateral frontoparietal polymicrogyria MONDO:8000031 Orphanet:101070 Orphanet:557494 obsolete subtype of a disorder +MONDO:0011744 primary intraosseous venous malformation MONDO:0016524 Orphanet:140436 Orphanet:235832 obsolete congenital vascular bone syndrome +MONDO:0011749 oculocutaneous albinism type 1B MONDO:0020253 Orphanet:79434 Orphanet:98683 obsolete syndrome with a symptomatic strabismus +MONDO:0011749 oculocutaneous albinism type 1B MONDO:8000031 Orphanet:79434 Orphanet:557494 obsolete subtype of a disorder +MONDO:0011758 Hurler syndrome MONDO:0016326 Orphanet:93473 Orphanet:217581 obsolete lysosomal disease with hypertrophic cardiomyopathy +MONDO:0011758 Hurler syndrome MONDO:0016341 Orphanet:93473 Orphanet:217638 obsolete lysosomal disease with restrictive cardiomyopathy +MONDO:0011758 Hurler syndrome MONDO:0035863 Orphanet:93473 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0011758 Hurler syndrome MONDO:8000031 Orphanet:93473 Orphanet:557494 obsolete subtype of a disorder +MONDO:0011759 Hurler-Scheie syndrome MONDO:0016326 Orphanet:93476 Orphanet:217581 obsolete lysosomal disease with hypertrophic cardiomyopathy +MONDO:0011759 Hurler-Scheie syndrome MONDO:8000031 Orphanet:93476 Orphanet:557494 obsolete subtype of a disorder +MONDO:0011760 Scheie syndrome MONDO:8000031 Orphanet:93474 Orphanet:557494 obsolete subtype of a disorder +MONDO:0011766 46,XY gonadal dysgenesis-motor and sensory neuropathy syndrome MONDO:0017978 Orphanet:168563 Orphanet:325638 obsolete syndrome with disorder of sex development of gynecological interest +MONDO:0011766 46,XY gonadal dysgenesis-motor and sensory neuropathy syndrome MONDO:0020042 Orphanet:168563 Orphanet:98087 obsolete syndrome with 46,XY disorder of sex development +MONDO:0011766 46,XY gonadal dysgenesis-motor and sensory neuropathy syndrome MONDO:8000032 Orphanet:168563 Orphanet:377789 obsolete malformation syndrome +MONDO:0011772 B4GALT1-congenital disorder of glycosylation MONDO:0017121 Orphanet:79332 Orphanet:269546 obsolete syndrome with a Dandy-Walker malformation as major feature +MONDO:0011772 B4GALT1-congenital disorder of glycosylation MONDO:0018284 Orphanet:79332 Orphanet:371047 obsolete congenital disorder of glycosylation with neurological involvement +MONDO:0011772 B4GALT1-congenital disorder of glycosylation MONDO:0018288 Orphanet:79332 Orphanet:371157 obsolete congenital disorder of glycosylation with hepatic involvement +MONDO:0011772 B4GALT1-congenital disorder of glycosylation MONDO:0018296 Orphanet:79332 Orphanet:371235 obsolete congenital disorder of glycosylation with developmental anomaly +MONDO:0011776 CINCA syndrome MONDO:0017259 Orphanet:1451 Orphanet:280926 obsolete systemic diseases with anterior uveitis +MONDO:0011776 CINCA syndrome MONDO:0035862 Orphanet:1451 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome +MONDO:0011776 CINCA syndrome MONDO:0800092 Orphanet:1451 Orphanet:498445 obsolete hereditary inflammatory or rheumatoid-like osteoarthropathy +MONDO:0011781 spinocerebellar ataxia type 17 MONDO:0017641 Orphanet:98759 Orphanet:306695 obsolete miscellaneous movement disorder due to neurodegenerative disease +MONDO:0011781 spinocerebellar ataxia type 17 MONDO:0017662 Orphanet:98759 Orphanet:307058 obsolete miscellaneous movement disorder due to genetic neurodegenerative disease +MONDO:0011783 ALG12-congenital disorder of glycosylation MONDO:0018284 Orphanet:79324 Orphanet:371047 obsolete congenital disorder of glycosylation with neurological involvement +MONDO:0011783 ALG12-congenital disorder of glycosylation MONDO:0035862 Orphanet:79324 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome +MONDO:0011785 hereditary spastic paraplegia 19 MONDO:0015088 Orphanet:100999 Orphanet:100980 obsolete autosomal dominant pure spastic paraplegia +MONDO:0011787 autosomal recessive limb-girdle muscular dystrophy type 2I MONDO:0017745 Orphanet:34515 Orphanet:309469 obsolete disorder of O-mannosylglycan synthesis +MONDO:0011787 autosomal recessive limb-girdle muscular dystrophy type 2I MONDO:0018284 Orphanet:34515 Orphanet:371047 obsolete congenital disorder of glycosylation with neurological involvement +MONDO:0011788 cloverleaf skull-multiple congenital anomalies syndrome MONDO:0020225 Orphanet:93267 Orphanet:98641 obsolete syndromic cataract +MONDO:0011788 cloverleaf skull-multiple congenital anomalies syndrome MONDO:8000032 Orphanet:93267 Orphanet:377789 obsolete malformation syndrome +MONDO:0011790 Amish lethal microcephaly MONDO:0017119 Orphanet:99742 Orphanet:269528 obsolete syndrome with microcephaly as major feature +MONDO:0011790 Amish lethal microcephaly MONDO:8000032 Orphanet:99742 Orphanet:377789 obsolete malformation syndrome MONDO:0011794 obsolete Dravet syndrome MONDO:0000001 Orphanet:33069 Orphanet:377788 disease +MONDO:0011794 obsolete Dravet syndrome MONDO:0015922 Orphanet:33069 Orphanet:182083 obsolete channelopathy with epilepsy +MONDO:0011794 obsolete Dravet syndrome MONDO:0020071 Orphanet:33069 Orphanet:98258 infantile epilepsy syndrome +MONDO:0011794 obsolete Dravet syndrome MONDO:0035862 Orphanet:33069 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome +MONDO:0011795 anonychia-microcephaly syndrome MONDO:0043008 Orphanet:1094 Orphanet:330206 obsolete genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability +MONDO:0011795 anonychia-microcephaly syndrome MONDO:8000032 Orphanet:1094 Orphanet:377789 obsolete malformation syndrome +MONDO:0011801 spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1 MONDO:0020045 Orphanet:94124 Orphanet:98097 obsolete autosomal recessive cerebellar ataxia due to a DNA repair defect +MONDO:0011803 hereditary spastic paraplegia 7 MONDO:0017914 Orphanet:99013 Orphanet:320342 obsolete pure or complex autosomal dominant spastic paraplegia +MONDO:0011803 hereditary spastic paraplegia 7 MONDO:0017915 Orphanet:99013 Orphanet:320346 obsolete pure or complex autosomal recessive spastic paraplegia +MONDO:0011803 hereditary spastic paraplegia 7 MONDO:0018157 Orphanet:99013 Orphanet:35696 obsolete mitochondrial disorder due to a defect in mitochondrial protein synthesis +MONDO:0011803 hereditary spastic paraplegia 7 MONDO:0018609 Orphanet:99013 Orphanet:441434 obsolete syndromic hereditary optic neuropathy +MONDO:0011804 autoimmune lymphoproliferative syndrome type 2B MONDO:0015709 Orphanet:275517 Orphanet:169355 obsolete immunodeficiency syndrome with autoimmunity +MONDO:0011810 horizontal gaze palsy with progressive scoliosis MONDO:0017120 Orphanet:2744 Orphanet:269531 obsolete other syndrome with a central nervous system malformation as major feature +MONDO:0011810 horizontal gaze palsy with progressive scoliosis MONDO:0020253 Orphanet:2744 Orphanet:98683 obsolete syndrome with a symptomatic strabismus +MONDO:0011812 Duane-radial ray syndrome MONDO:0015246 Orphanet:93293 Orphanet:117573 obsolete syndromic anorectal malformation +MONDO:0011812 Duane-radial ray syndrome MONDO:0017432 Orphanet:93293 Orphanet:294955 obsolete syndrome with limb reduction defects +MONDO:0011812 Duane-radial ray syndrome MONDO:0020253 Orphanet:93293 Orphanet:98683 obsolete syndrome with a symptomatic strabismus +MONDO:0011812 Duane-radial ray syndrome MONDO:0043008 Orphanet:959 Orphanet:330206 obsolete genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability +MONDO:0011812 Duane-radial ray syndrome MONDO:8000032 Orphanet:93293 Orphanet:377789 obsolete malformation syndrome +MONDO:0011812 Duane-radial ray syndrome MONDO:8000032 Orphanet:959 Orphanet:377789 obsolete malformation syndrome +MONDO:0011816 lathosterolosis MONDO:0020228 Orphanet:46059 Orphanet:98644 obsolete cataract associated with a metabolic disease +MONDO:0011816 lathosterolosis MONDO:0035863 Orphanet:46059 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0011818 isolated focal cortical dysplasia type II MONDO:8000031 Orphanet:268994 Orphanet:557494 obsolete subtype of a disorder +MONDO:0011822 Bartter disease type 3 MONDO:8000031 Orphanet:93605 Orphanet:557494 obsolete subtype of a disorder +MONDO:0011823 developmental malformations-deafness-dystonia syndrome MONDO:0018265 Orphanet:79107 Orphanet:370106 obsolete rare disorder with dystonia and other neurologic or systemic manifestation +MONDO:0011823 developmental malformations-deafness-dystonia syndrome MONDO:0019589 Orphanet:79107 Orphanet:90642 obsolete syndromic genetic hearing loss +MONDO:0011823 developmental malformations-deafness-dystonia syndrome MONDO:0020225 Orphanet:79107 Orphanet:98641 obsolete syndromic cataract +MONDO:0011823 developmental malformations-deafness-dystonia syndrome MONDO:0043008 Orphanet:79107 Orphanet:330206 obsolete genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability +MONDO:0011823 developmental malformations-deafness-dystonia syndrome MONDO:8000032 Orphanet:79107 Orphanet:377789 obsolete malformation syndrome +MONDO:0011833 spinocerebellar ataxia type 21 MONDO:0035862 Orphanet:98773 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome +MONDO:0011835 sensory ataxic neuropathy, dysarthria, and ophthalmoparesis MONDO:0016402 Orphanet:70595 Orphanet:225700 obsolete mitochondrial disease with epilepsy +MONDO:0011835 sensory ataxic neuropathy, dysarthria, and ophthalmoparesis MONDO:0016403 Orphanet:70595 Orphanet:225703 obsolete mitochondrial disease with peripheral neuropathy +MONDO:0011841 biotin-responsive basal ganglia disease MONDO:0019058 Orphanet:65284 Orphanet:68385 obsolete neurometabolic disease +MONDO:0011862 hereditary spastic paraplegia 24 MONDO:0015090 Orphanet:101004 Orphanet:100982 obsolete autosomal recessive pure spastic paraplegia +MONDO:0011868 lethal congenital contracture syndrome 2 MONDO:0043008 Orphanet:137776 Orphanet:330206 obsolete genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability +MONDO:0011868 lethal congenital contracture syndrome 2 MONDO:8000032 Orphanet:137776 Orphanet:377789 obsolete malformation syndrome +MONDO:0011871 Niemann-Pick disease type B MONDO:0016133 Orphanet:77293 Orphanet:207018 obsolete rare hereditary metabolic disease with peripheral neuropathy +MONDO:0011871 Niemann-Pick disease type B MONDO:0018799 Orphanet:77293 Orphanet:477811 obsolete rare hypercholesterolemia +MONDO:0011871 Niemann-Pick disease type B MONDO:0035862 Orphanet:77293 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome +MONDO:0011872 Griscelli syndrome type 2 MONDO:0018032 Orphanet:79477 Orphanet:331184 obsolete constitutional neutropenia with extra-hematopoietic manifestations +MONDO:0011872 Griscelli syndrome type 2 MONDO:0018042 Orphanet:79477 Orphanet:331249 obsolete immunodeficiency syndrome with abnormal pigmentation +MONDO:0011872 Griscelli syndrome type 2 MONDO:0019305 Orphanet:79477 Orphanet:79391 obsolete immune deficiency with skin involvement +MONDO:0011872 Griscelli syndrome type 2 MONDO:0026166 Orphanet:79477 Orphanet:183494 obsolete genetic immune deficiency with skin involvement +MONDO:0011872 Griscelli syndrome type 2 MONDO:8000031 Orphanet:79477 Orphanet:557494 obsolete subtype of a disorder +MONDO:0011874 neonatal ichthyosis-sclerosing cholangitis syndrome MONDO:0015509 Orphanet:59303 Orphanet:156607 obsolete hereditary biliary tract disease +MONDO:0011874 neonatal ichthyosis-sclerosing cholangitis syndrome MONDO:0017271 Orphanet:59303 Orphanet:281222 obsolete autosomal ichthyosis syndrome with prominent hair abnormalities +MONDO:0011877 autosomal dominant osteopetrosis 1 MONDO:8000032 Orphanet:2783 Orphanet:377789 obsolete malformation syndrome +MONDO:0011882 skin fragility-woolly hair-palmoplantar keratoderma syndrome MONDO:0017671 Orphanet:293165 Orphanet:307804 obsolete autosomal recessive disease with diffuse palmoplantar keratoderma as a major feature +MONDO:0011882 skin fragility-woolly hair-palmoplantar keratoderma syndrome MONDO:0018558 Orphanet:293165 Orphanet:434809 obsolete syndrome with wooly hair +MONDO:0011883 Curly hair - acral keratoderma - caries syndrome MONDO:0015336 Orphanet:307766 Orphanet:139042 obsolete malformation syndrome with odontal and/or periodontal component +MONDO:0011883 Curly hair - acral keratoderma - caries syndrome MONDO:0020094 Orphanet:307766 Orphanet:98352 obsolete autosomal dominant disease with diffuse palmoplantar keratoderma as a major feature +MONDO:0011884 hypotrichosis-osteolysis-periodontitis-palmoplantar keratoderma syndrome MONDO:0015336 Orphanet:307936 Orphanet:139042 obsolete malformation syndrome with odontal and/or periodontal component +MONDO:0011884 hypotrichosis-osteolysis-periodontitis-palmoplantar keratoderma syndrome MONDO:0020095 Orphanet:307936 Orphanet:98353 obsolete autosomal dominant disease associated with focal palmoplantar keratoderma as a major feature +MONDO:0011885 tubulointerstitial nephritis and uveitis syndrome MONDO:0017259 Orphanet:91500 Orphanet:280926 obsolete systemic diseases with anterior uveitis +MONDO:0011885 tubulointerstitial nephritis and uveitis syndrome MONDO:0019744 Orphanet:91500 Orphanet:93603 obsolete rare renal tubular disease +MONDO:0011897 leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome MONDO:0017333 Orphanet:137639 Orphanet:289494 obsolete hypomyelinating leukodystrophy with or without oligondontia and/or hypogonadism +MONDO:0011897 leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome MONDO:8000031 Orphanet:137639 Orphanet:557494 obsolete subtype of a disorder +MONDO:0011899 Noonan syndrome-like disorder with loose anagen hair MONDO:0020167 Orphanet:2701 Orphanet:98576 obsolete malposition of external canthus +MONDO:0011899 Noonan syndrome-like disorder with loose anagen hair MONDO:0021034 Orphanet:2701 Orphanet:481771 obsolete hereditary alopecia +MONDO:0011899 Noonan syndrome-like disorder with loose anagen hair MONDO:0026989 Orphanet:2701 Orphanet:217595 obsolete syndrome associated with hypertrophic cardiomyopathy +MONDO:0011899 Noonan syndrome-like disorder with loose anagen hair MONDO:0035863 Orphanet:2701 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0011899 Noonan syndrome-like disorder with loose anagen hair MONDO:8000032 Orphanet:2701 Orphanet:377789 obsolete malformation syndrome +MONDO:0011901 Charcot-Marie-Tooth disease axonal type 2H MONDO:0019601 Orphanet:101102 Orphanet:91024 obsolete autosomal recessive axonal hereditary motor and sensory neuropathy +MONDO:0011904 seizures, benign familial infantile, 3 MONDO:0015654 Orphanet:140927 Orphanet:166475 obsolete idiopathic or cryptogenic familial epilepsy syndrome with identified loci/genes +MONDO:0011907 acrocapitofemoral dysplasia MONDO:8000032 Orphanet:63446 Orphanet:377789 obsolete malformation syndrome +MONDO:0011911 craniolenticulosutural dysplasia MONDO:0020225 Orphanet:50814 Orphanet:98641 obsolete syndromic cataract +MONDO:0011911 craniolenticulosutural dysplasia MONDO:0043008 Orphanet:50814 Orphanet:330206 obsolete genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability +MONDO:0011911 craniolenticulosutural dysplasia MONDO:8000032 Orphanet:50814 Orphanet:377789 obsolete malformation syndrome +MONDO:0011916 Charcot-Marie-Tooth disease axonal type 2K MONDO:0019601 Orphanet:101097 Orphanet:91024 obsolete autosomal recessive axonal hereditary motor and sensory neuropathy +MONDO:0011922 nonimmune chronic idiopathic neutropenia of adults MONDO:0015822 Orphanet:2688 Orphanet:178996 obsolete acquired neutropenia +MONDO:0011925 congenital merosin-deficient muscular dystrophy 1A MONDO:0016149 Orphanet:258 Orphanet:207094 obsolete qualitative or quantitative defects of merosin +MONDO:0011925 congenital merosin-deficient muscular dystrophy 1A MONDO:0035862 Orphanet:258 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome +MONDO:0011925 congenital merosin-deficient muscular dystrophy 1A MONDO:8000032 Orphanet:258 Orphanet:377789 obsolete malformation syndrome +MONDO:0011927 tufted angioma MONDO:0016228 Orphanet:1063 Orphanet:211237 obsolete rare vascular tumor +MONDO:0011927 tufted angioma MONDO:0018729 Orphanet:1063 Orphanet:459543 obsolete genetic vascular tumor +MONDO:0011928 caudal duplication MONDO:0015246 Orphanet:1756 Orphanet:117573 obsolete syndromic anorectal malformation +MONDO:0011928 caudal duplication MONDO:0017120 Orphanet:1756 Orphanet:269531 obsolete other syndrome with a central nervous system malformation as major feature +MONDO:0011928 caudal duplication MONDO:8000032 Orphanet:1756 Orphanet:377789 obsolete malformation syndrome +MONDO:0011929 chromosome 1p36 deletion syndrome MONDO:0015652 Orphanet:1606 Orphanet:166469 obsolete chromosomal anomaly with epilepsy as a major feature +MONDO:0011929 chromosome 1p36 deletion syndrome MONDO:0016337 Orphanet:1606 Orphanet:217619 obsolete syndrome associated with dilated cardiomyopathy +MONDO:0011929 chromosome 1p36 deletion syndrome MONDO:8000032 Orphanet:1606 Orphanet:377789 obsolete malformation syndrome +MONDO:0011933 ALG2-congenital disorder of glycosylation MONDO:0018287 Orphanet:79326 Orphanet:371071 obsolete congenital disorder of glycosylation with epilepsy as a major feature +MONDO:0011933 ALG2-congenital disorder of glycosylation MONDO:0018288 Orphanet:79326 Orphanet:371157 obsolete congenital disorder of glycosylation with hepatic involvement +MONDO:0011933 ALG2-congenital disorder of glycosylation MONDO:0020228 Orphanet:79326 Orphanet:98644 obsolete cataract associated with a metabolic disease +MONDO:0011933 ALG2-congenital disorder of glycosylation MONDO:0035862 Orphanet:79326 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome +MONDO:0011934 dermatofibrosarcoma protuberans MONDO:0015950 Orphanet:31112 Orphanet:183487 obsolete inherited skin tumor +MONDO:0011934 dermatofibrosarcoma protuberans MONDO:0017127 Orphanet:31112 Orphanet:271832 obsolete inherited soft tissue tumor +MONDO:0011934 dermatofibrosarcoma protuberans MONDO:0019300 Orphanet:31112 Orphanet:79386 obsolete rare skin tumor or hamartoma +MONDO:0011936 microphthalmia with brain and digit anomalies MONDO:0020225 Orphanet:139471 Orphanet:98641 obsolete syndromic cataract +MONDO:0011936 microphthalmia with brain and digit anomalies MONDO:0035863 Orphanet:139471 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0011936 microphthalmia with brain and digit anomalies MONDO:8000032 Orphanet:139471 Orphanet:377789 obsolete malformation syndrome +MONDO:0011939 Spondyloenchondrodysplasia with immune dysregulation MONDO:0015709 Orphanet:1855 Orphanet:169355 obsolete immunodeficiency syndrome with autoimmunity +MONDO:0011939 Spondyloenchondrodysplasia with immune dysregulation MONDO:0018782 Orphanet:1855 Orphanet:477647 obsolete type 1 interferonopathy +MONDO:0011939 Spondyloenchondrodysplasia with immune dysregulation MONDO:8000032 Orphanet:1855 Orphanet:377789 obsolete malformation syndrome +MONDO:0011945 Gaucher disease perinatal lethal MONDO:0017273 Orphanet:85212 Orphanet:281241 obsolete autosomal ichthyosis syndrome with fatal disease course +MONDO:0011945 Gaucher disease perinatal lethal MONDO:8000031 Orphanet:85212 Orphanet:557494 obsolete subtype of a disorder +MONDO:0011946 diaphanospondylodysostosis MONDO:0019711 Orphanet:66637 Orphanet:93454 obsolete dysostosis with predominant vertebral and costal involvement +MONDO:0011946 diaphanospondylodysostosis MONDO:8000032 Orphanet:66637 Orphanet:377789 obsolete malformation syndrome +MONDO:0011948 pontocerebellar hypoplasia type 3 MONDO:0018609 Orphanet:97249 Orphanet:441434 obsolete syndromic hereditary optic neuropathy +MONDO:0011948 pontocerebellar hypoplasia type 3 MONDO:8000032 Orphanet:97249 Orphanet:377789 obsolete malformation syndrome +MONDO:0011953 familial acute necrotizing encephalopathy MONDO:0035862 Orphanet:88619 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome +MONDO:0011959 sweet syndrome MONDO:0017370 Orphanet:3243 Orphanet:290842 obsolete autoinflammatory syndrome with skin involvement +MONDO:0011959 sweet syndrome MONDO:0017954 Orphanet:3243 Orphanet:324927 obsolete pyogenic autoinflammatory syndrome +MONDO:0011961 hereditary sensory and autonomic neuropathy type 1B MONDO:0015365 Orphanet:139564 Orphanet:140474 obsolete autosomal dominant hereditary sensory and autonomic neuropathy +MONDO:0011964 DPAGT1-congenital disorder of glycosylation MONDO:0018287 Orphanet:86309 Orphanet:371071 obsolete congenital disorder of glycosylation with epilepsy as a major feature +MONDO:0011964 DPAGT1-congenital disorder of glycosylation MONDO:0035862 Orphanet:86309 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome +MONDO:0011968 autosomal recessive limb-girdle muscular dystrophy type 2D MONDO:0016334 Orphanet:62 Orphanet:217610 obsolete neuromuscular disease with dilated cardiomyopathy +MONDO:0011969 ALG8-congenital disorder of glycosylation MONDO:0018284 Orphanet:79325 Orphanet:371047 obsolete congenital disorder of glycosylation with neurological involvement +MONDO:0011969 ALG8-congenital disorder of glycosylation MONDO:0018288 Orphanet:79325 Orphanet:371157 obsolete congenital disorder of glycosylation with hepatic involvement +MONDO:0011969 ALG8-congenital disorder of glycosylation MONDO:0018291 Orphanet:79325 Orphanet:371188 obsolete congenital disorder of glycosylation with intestinal involvement +MONDO:0011969 ALG8-congenital disorder of glycosylation MONDO:0018294 Orphanet:79325 Orphanet:371207 obsolete congenital disorder of glycosylation with nephropathy as a major feature +MONDO:0011969 ALG8-congenital disorder of glycosylation MONDO:0020228 Orphanet:79325 Orphanet:98644 obsolete cataract associated with a metabolic disease +MONDO:0011969 ALG8-congenital disorder of glycosylation MONDO:0035862 Orphanet:79325 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome +MONDO:0011971 hyper-IgM syndrome type 5 MONDO:0015976 Orphanet:101092 Orphanet:183666 obsolete hyper-IgM syndrome without susceptibility to opportunistic infections +MONDO:0011971 hyper-IgM syndrome type 5 MONDO:8000031 Orphanet:101092 Orphanet:557494 obsolete subtype of a disorder +MONDO:0011972 ovarian hyperstimulation syndrome MONDO:0015875 Orphanet:64739 Orphanet:180303 obsolete rare non-malformative uterine adnexal disease +MONDO:0011972 ovarian hyperstimulation syndrome MONDO:0015980 Orphanet:64739 Orphanet:183731 obsolete rare genetic gynecological and obstetrical diseases +MONDO:0011975 paternal uniparental disomy of chromosome 14 MONDO:0020057 Orphanet:96334 Orphanet:98154 obsolete uniparental disomy of paternal origin +MONDO:0011975 paternal uniparental disomy of chromosome 14 MONDO:8000031 Orphanet:96334 Orphanet:557494 obsolete subtype of a disorder +MONDO:0011976 lipodystrophy-intellectual disability-deafness syndrome MONDO:0019589 Orphanet:50811 Orphanet:90642 obsolete syndromic genetic hearing loss +MONDO:0011976 lipodystrophy-intellectual disability-deafness syndrome MONDO:0019699 Orphanet:50811 Orphanet:93440 obsolete slender bone dysplasia +MONDO:0011976 lipodystrophy-intellectual disability-deafness syndrome MONDO:0019705 Orphanet:50811 Orphanet:93447 obsolete primary bone dysplasia with defective bone mineralization +MONDO:0011976 lipodystrophy-intellectual disability-deafness syndrome MONDO:0031689 Orphanet:50811 Orphanet:363245 obsolete genetic progeroid syndrome +MONDO:0011976 lipodystrophy-intellectual disability-deafness syndrome MONDO:0035863 Orphanet:50811 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0011977 8q22.1 microdeletion syndrome MONDO:0043008 Orphanet:178303 Orphanet:330206 obsolete genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability +MONDO:0011977 8q22.1 microdeletion syndrome MONDO:8000032 Orphanet:178303 Orphanet:377789 obsolete malformation syndrome +MONDO:0011984 synpolydactyly type 2 MONDO:8000031 Orphanet:295197 Orphanet:557494 obsolete subtype of a disorder +MONDO:0011985 hyper-IgM syndrome type 4 MONDO:0015976 Orphanet:101091 Orphanet:183666 obsolete hyper-IgM syndrome without susceptibility to opportunistic infections +MONDO:0011985 hyper-IgM syndrome type 4 MONDO:8000031 Orphanet:101091 Orphanet:557494 obsolete subtype of a disorder +MONDO:0011986 tropical pancreatitis MONDO:0015112 Orphanet:103918 Orphanet:101937 obsolete rare pancreatic disease +MONDO:0011989 leishmaniasis MONDO:0015577 Orphanet:507 Orphanet:163588 obsolete rare parasitic disease +MONDO:0011992 hereditary spastic paraplegia 25 MONDO:0015089 Orphanet:101005 Orphanet:100981 obsolete autosomal recessive complex spastic paraplegia +MONDO:0011995 cataract - congenital heart disease - neural tube defect syndrome MONDO:0017120 Orphanet:314993 Orphanet:269531 obsolete other syndrome with a central nervous system malformation as major feature +MONDO:0011995 cataract - congenital heart disease - neural tube defect syndrome MONDO:0020225 Orphanet:314993 Orphanet:98641 obsolete syndromic cataract +MONDO:0011995 cataract - congenital heart disease - neural tube defect syndrome MONDO:8000032 Orphanet:314993 Orphanet:377789 obsolete malformation syndrome +MONDO:0011997 Hermansky-Pudlak syndrome 2 MONDO:0018032 Orphanet:183678 Orphanet:331184 obsolete constitutional neutropenia with extra-hematopoietic manifestations +MONDO:0011997 Hermansky-Pudlak syndrome 2 MONDO:0018042 Orphanet:183678 Orphanet:331249 obsolete immunodeficiency syndrome with abnormal pigmentation +MONDO:0011997 Hermansky-Pudlak syndrome 2 MONDO:8000031 Orphanet:183678 Orphanet:557494 obsolete subtype of a disorder +MONDO:0011998 autosomal dominant slowed nerve conduction velocity MONDO:0015359 Orphanet:140481 Orphanet:140453 obsolete autosomal dominant hereditary demyelinating motor and sensory neuropathy +MONDO:0012004 parathyroid gland carcinoma MONDO:0015076 Orphanet:143 Orphanet:100090 obsolete rare parathyroid tumor +MONDO:0012004 parathyroid gland carcinoma MONDO:0015897 Orphanet:143 Orphanet:181408 obsolete rare hyperparathyroidism +MONDO:0012008 Lelis syndrome MONDO:8000032 Orphanet:140936 Orphanet:377789 obsolete malformation syndrome +MONDO:0012013 Weill-Marchesani syndrome 2, dominant MONDO:0034937 Orphanet:2084 Orphanet:519292 obsolete syndromic ectopia lentis +MONDO:0012013 Weill-Marchesani syndrome 2, dominant MONDO:8000032 Orphanet:2084 Orphanet:377789 obsolete malformation syndrome +MONDO:0012016 capillary malformation-arteriovenous malformation syndrome MONDO:0016229 Orphanet:137667 Orphanet:211240 obsolete hereditary vascular anomaly +MONDO:0012016 capillary malformation-arteriovenous malformation syndrome MONDO:8000032 Orphanet:137667 Orphanet:377789 obsolete malformation syndrome +MONDO:0012019 spondyloepiphyseal dysplasia, Kimberley type MONDO:0018239 Orphanet:93283 Orphanet:364817 obsolete aggrecan-related bone disorder +MONDO:0012020 chromosome 22q11.2 microduplication syndrome MONDO:8000032 Orphanet:1727 Orphanet:377789 obsolete malformation syndrome +MONDO:0012032 Braddock syndrome MONDO:0017159 Orphanet:52047 Orphanet:275853 obsolete syndrome with pulmonary hypertension as a major feature +MONDO:0012032 Braddock syndrome MONDO:0043008 Orphanet:52047 Orphanet:330206 obsolete genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability +MONDO:0012032 Braddock syndrome MONDO:8000032 Orphanet:52047 Orphanet:377789 obsolete malformation syndrome +MONDO:0012035 craniosynostosis-intracranial calcifications syndrome MONDO:8000032 Orphanet:52054 Orphanet:377789 obsolete malformation syndrome +MONDO:0012041 familial adenomatous polyposis 2 MONDO:8000031 Orphanet:247798 Orphanet:557494 obsolete subtype of a disorder +MONDO:0012052 ALG1-congenital disorder of glycosylation MONDO:0018287 Orphanet:79327 Orphanet:371071 obsolete congenital disorder of glycosylation with epilepsy as a major feature +MONDO:0012052 ALG1-congenital disorder of glycosylation MONDO:0035862 Orphanet:79327 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome +MONDO:0012055 Larsen-like osseous dysplasia-short stature syndrome MONDO:0800086 Orphanet:2370 Orphanet:93441 obsolete primary bone dysplasia with multiple joint dislocations +MONDO:0012055 Larsen-like osseous dysplasia-short stature syndrome MONDO:8000032 Orphanet:2370 Orphanet:377789 obsolete malformation syndrome +MONDO:0012061 familial sick sinus syndrome MONDO:0015110 Orphanet:166282 Orphanet:101934 obsolete genetic cardiac rhythm disease +MONDO:0012063 ulnar/fibula ray defect-brachydactyly syndrome MONDO:0800094 Orphanet:52056 Orphanet:498454 obsolete dysostosis with brachydactyly with extraskeletal manifestations +MONDO:0012063 ulnar/fibula ray defect-brachydactyly syndrome MONDO:8000032 Orphanet:52056 Orphanet:377789 obsolete malformation syndrome +MONDO:0012064 choanal atresia-hearing loss-cardiac defects-craniofacial dysmorphism syndrome MONDO:0015503 Orphanet:1200 Orphanet:156246 obsolete nose and cavum anomaly +MONDO:0012064 choanal atresia-hearing loss-cardiac defects-craniofacial dysmorphism syndrome MONDO:0019589 Orphanet:1200 Orphanet:90642 obsolete syndromic genetic hearing loss +MONDO:0012064 choanal atresia-hearing loss-cardiac defects-craniofacial dysmorphism syndrome MONDO:0033334 Orphanet:1200 Orphanet:435606 obsolete genetic nose and cavum anomaly +MONDO:0012064 choanal atresia-hearing loss-cardiac defects-craniofacial dysmorphism syndrome MONDO:0043008 Orphanet:1200 Orphanet:330206 obsolete genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability +MONDO:0012064 choanal atresia-hearing loss-cardiac defects-craniofacial dysmorphism syndrome MONDO:8000032 Orphanet:1200 Orphanet:377789 obsolete malformation syndrome +MONDO:0012072 familial partial lipodystrophy, Kobberling type MONDO:0029812 Orphanet:79084 Orphanet:300763 obsolete laminopathy with lipodystrophy +MONDO:0012074 mandibuloacral dysplasia with type B lipodystrophy MONDO:8000031 Orphanet:90154 Orphanet:557494 obsolete subtype of a disorder +MONDO:0012075 oligodontia-cancer predisposition syndrome MONDO:0015336 Orphanet:300576 Orphanet:139042 obsolete malformation syndrome with odontal and/or periodontal component +MONDO:0012075 oligodontia-cancer predisposition syndrome MONDO:0015945 Orphanet:300576 Orphanet:183422 obsolete polymalformative genetic syndrome with increased risk of developing cancer +MONDO:0012081 15q11q13 microduplication syndrome MONDO:8000032 Orphanet:238446 Orphanet:377789 obsolete malformation syndrome +MONDO:0012084 aromatic L-amino acid decarboxylase deficiency MONDO:0019058 Orphanet:35708 Orphanet:68385 obsolete neurometabolic disease +MONDO:0012089 ichthyosis prematurity syndrome MONDO:0029102 Orphanet:88621 Orphanet:281244 obsolete autosomal ichthyosis syndrome with other associated signs +MONDO:0012092 hereditary sensory and autonomic neuropathy type 5 MONDO:0015366 Orphanet:64752 Orphanet:140477 obsolete autosomal recessive hereditary sensory and autonomic neuropathy +MONDO:0012095 intellectual disability-brachydactyly-Pierre Robin syndrome MONDO:0015319 Orphanet:364577 Orphanet:138044 obsolete rare disease with Pierre Robin syndrome +MONDO:0012095 intellectual disability-brachydactyly-Pierre Robin syndrome MONDO:0018187 Orphanet:364577 Orphanet:363294 obsolete hereditary syndromic Pierre Robin syndrome +MONDO:0012095 intellectual disability-brachydactyly-Pierre Robin syndrome MONDO:0035863 Orphanet:364577 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0012095 intellectual disability-brachydactyly-Pierre Robin syndrome MONDO:0800094 Orphanet:364577 Orphanet:498454 obsolete dysostosis with brachydactyly with extraskeletal manifestations +MONDO:0012095 intellectual disability-brachydactyly-Pierre Robin syndrome MONDO:8000032 Orphanet:364577 Orphanet:377789 obsolete malformation syndrome +MONDO:0012099 AICA-ribosiduria MONDO:0034953 Orphanet:250977 Orphanet:519325 obsolete syndromic inherited retinal disorder +MONDO:0012099 AICA-ribosiduria MONDO:0035862 Orphanet:250977 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome +MONDO:0012105 granulomatosis with polyangiitis MONDO:0015657 Orphanet:900 Orphanet:166484 obsolete inflammatory and autoimmune disease with epilepsy +MONDO:0012105 granulomatosis with polyangiitis MONDO:0016177 Orphanet:900 Orphanet:209007 obsolete systemic inflammatory disease associated with an acquired peripheral neuropathy +MONDO:0012110 growth delay due to insulin-like growth factor type 1 deficiency MONDO:0035862 Orphanet:73272 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome +MONDO:0012117 ALG9-congenital disorder of glycosylation MONDO:0018287 Orphanet:79328 Orphanet:371071 obsolete congenital disorder of glycosylation with epilepsy as a major feature +MONDO:0012117 ALG9-congenital disorder of glycosylation MONDO:0018288 Orphanet:79328 Orphanet:371157 obsolete congenital disorder of glycosylation with hepatic involvement +MONDO:0012117 ALG9-congenital disorder of glycosylation MONDO:0035862 Orphanet:79328 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome +MONDO:0012118 COG7-congenital disorder of glycosylation MONDO:0018287 Orphanet:79333 Orphanet:371071 obsolete congenital disorder of glycosylation with epilepsy as a major feature +MONDO:0012118 COG7-congenital disorder of glycosylation MONDO:0018290 Orphanet:79333 Orphanet:371183 obsolete congenital disorder of glycosylation with cardiac malformation as a major feature +MONDO:0012118 COG7-congenital disorder of glycosylation MONDO:0018293 Orphanet:79333 Orphanet:371200 obsolete congenital disorder of glycosylation with skin involvement +MONDO:0012118 COG7-congenital disorder of glycosylation MONDO:0035863 Orphanet:79333 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0012120 pyruvate dehydrogenase phosphatase deficiency MONDO:8000031 Orphanet:79246 Orphanet:557494 obsolete subtype of a disorder +MONDO:0012123 congenital disorder of glycosylation type 1E MONDO:0018287 Orphanet:79322 Orphanet:371071 obsolete congenital disorder of glycosylation with epilepsy as a major feature +MONDO:0012123 congenital disorder of glycosylation type 1E MONDO:0035862 Orphanet:79322 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome +MONDO:0012124 sudden infant death-dysgenesis of the testes syndrome MONDO:0015118 Orphanet:168593 Orphanet:101944 obsolete rare pulmonary disease +MONDO:0012124 sudden infant death-dysgenesis of the testes syndrome MONDO:0015510 Orphanet:168593 Orphanet:156610 obsolete rare genetic respiratory disease +MONDO:0012124 sudden infant death-dysgenesis of the testes syndrome MONDO:0020042 Orphanet:168593 Orphanet:98087 obsolete syndrome with 46,XY disorder of sex development +MONDO:0012124 sudden infant death-dysgenesis of the testes syndrome MONDO:8000032 Orphanet:168593 Orphanet:377789 obsolete malformation syndrome +MONDO:0012125 hypomyelinating leukodystrophy 2 MONDO:8000031 Orphanet:280282 Orphanet:557494 obsolete subtype of a disorder +MONDO:0012126 familial avascular necrosis of femoral head MONDO:0018384 Orphanet:86820 Orphanet:399388 obsolete avascular necrosis of genetic origin +MONDO:0012130 myofibrillar myopathy 2 MONDO:0020343 Orphanet:399058 Orphanet:98910 obsolete alpha-crystallinopathy +MONDO:0012130 myofibrillar myopathy 2 MONDO:0026989 Orphanet:399058 Orphanet:217595 obsolete syndrome associated with hypertrophic cardiomyopathy +MONDO:0012131 metaphyseal undermodeling, spondylar dysplasia, and overgrowth MONDO:0800091 Orphanet:498485 Orphanet:498448 obsolete overgrowth or tall stature syndrome with skeletal involvement +MONDO:0012131 metaphyseal undermodeling, spondylar dysplasia, and overgrowth MONDO:8000032 Orphanet:498485 Orphanet:377789 obsolete malformation syndrome +MONDO:0012136 carnitine palmitoyl transferase II deficiency, neonatal form MONDO:8000031 Orphanet:228308 Orphanet:557494 obsolete subtype of a disorder +MONDO:0012137 Carney complex - trismus - pseudocamptodactyly syndrome MONDO:0015673 Orphanet:319340 Orphanet:168194 obsolete rare cardiac tumor +MONDO:0012137 Carney complex - trismus - pseudocamptodactyly syndrome MONDO:0017129 Orphanet:319340 Orphanet:271841 obsolete inherited cardiac tumor +MONDO:0012143 hereditary cryohydrocytosis with reduced stomatin MONDO:0035862 Orphanet:168577 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome +MONDO:0012155 choanal atresia MONDO:0015503 Orphanet:137914 Orphanet:156246 obsolete nose and cavum anomaly +MONDO:0012155 choanal atresia MONDO:8000030 Orphanet:137914 Orphanet:377791 obsolete morphological anomaly +MONDO:0012160 spondylometaphyseal dysplasia-cone-rod dystrophy syndrome MONDO:0034953 Orphanet:85167 Orphanet:519325 obsolete syndromic inherited retinal disorder +MONDO:0012164 Meacham syndrome MONDO:0015846 Orphanet:3097 Orphanet:180148 obsolete syndromic uterovaginal malformation +MONDO:0012164 Meacham syndrome MONDO:0017978 Orphanet:3097 Orphanet:325638 obsolete syndrome with disorder of sex development of gynecological interest +MONDO:0012164 Meacham syndrome MONDO:0020042 Orphanet:3097 Orphanet:98087 obsolete syndrome with 46,XY disorder of sex development +MONDO:0012164 Meacham syndrome MONDO:8000032 Orphanet:3097 Orphanet:377789 obsolete malformation syndrome +MONDO:0012165 BNAR syndrome MONDO:0015246 Orphanet:217266 Orphanet:117573 obsolete syndromic anorectal malformation +MONDO:0012165 BNAR syndrome MONDO:0015503 Orphanet:217266 Orphanet:156246 obsolete nose and cavum anomaly +MONDO:0012165 BNAR syndrome MONDO:0019721 Orphanet:217266 Orphanet:93547 obsolete syndromic renal or urinary tract malformation +MONDO:0012165 BNAR syndrome MONDO:0033334 Orphanet:217266 Orphanet:435606 obsolete genetic nose and cavum anomaly +MONDO:0012165 BNAR syndrome MONDO:0043008 Orphanet:217266 Orphanet:330206 obsolete genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability +MONDO:0012165 BNAR syndrome MONDO:8000032 Orphanet:217266 Orphanet:377789 obsolete malformation syndrome +MONDO:0012172 mitochondrial trifunctional protein deficiency MONDO:0016133 Orphanet:746 Orphanet:207018 obsolete rare hereditary metabolic disease with peripheral neuropathy +MONDO:0012172 mitochondrial trifunctional protein deficiency MONDO:0016328 Orphanet:746 Orphanet:217591 obsolete fatty acid oxidation and ketogenesis disorder with hypertrophic cardiomyopathy +MONDO:0012173 long chain 3-hydroxyacyl-CoA dehydrogenase deficiency MONDO:0015895 Orphanet:5 Orphanet:181402 obsolete syndrome with hypoparathyroidism +MONDO:0012173 long chain 3-hydroxyacyl-CoA dehydrogenase deficiency MONDO:0016133 Orphanet:5 Orphanet:207018 obsolete rare hereditary metabolic disease with peripheral neuropathy +MONDO:0012173 long chain 3-hydroxyacyl-CoA dehydrogenase deficiency MONDO:0016328 Orphanet:5 Orphanet:217591 obsolete fatty acid oxidation and ketogenesis disorder with hypertrophic cardiomyopathy +MONDO:0012173 long chain 3-hydroxyacyl-CoA dehydrogenase deficiency MONDO:0020240 Orphanet:5 Orphanet:98661 obsolete syndromic retinitis pigmentosa +MONDO:0012176 Emanuel syndrome MONDO:0015216 Orphanet:96170 Orphanet:108979 obsolete syndromic diaphragmatic or abdominal wall malformation +MONDO:0012176 Emanuel syndrome MONDO:0015880 Orphanet:96170 Orphanet:180779 obsolete syndromic diaphragmatic or thoracic malformation +MONDO:0012176 Emanuel syndrome MONDO:0016998 Orphanet:96170 Orphanet:263708 obsolete complex chromosomal rearrangement +MONDO:0012176 Emanuel syndrome MONDO:8000032 Orphanet:96170 Orphanet:377789 obsolete malformation syndrome +MONDO:0012177 posterior column ataxia-retinitis pigmentosa syndrome MONDO:0035862 Orphanet:88628 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome +MONDO:0012181 hereditary spastic paraplegia 27 MONDO:0017915 Orphanet:101007 Orphanet:320346 obsolete pure or complex autosomal recessive spastic paraplegia +MONDO:0012184 Pierson syndrome MONDO:8000032 Orphanet:2670 Orphanet:377789 obsolete malformation syndrome +MONDO:0012190 epidermolysis bullosa simplex 7, with nephropathy and deafness MONDO:0019589 Orphanet:300333 Orphanet:90642 obsolete syndromic genetic hearing loss +MONDO:0012190 epidermolysis bullosa simplex 7, with nephropathy and deafness MONDO:0035685 Orphanet:300333 Orphanet:595351 obsolete epidermolysis bullosa simplex with extracutaneous involvement +MONDO:0012191 hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 MONDO:0015115 Orphanet:137681 Orphanet:101940 obsolete rare genetic metabolic liver disease +MONDO:0012191 hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 MONDO:0018157 Orphanet:137681 Orphanet:35696 obsolete mitochondrial disorder due to a defect in mitochondrial protein synthesis +MONDO:0012192 permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome MONDO:0017118 Orphanet:65288 Orphanet:269523 obsolete syndrome with a cerebellar malformation as major feature +MONDO:0012192 permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome MONDO:8000032 Orphanet:65288 Orphanet:377789 obsolete malformation syndrome +MONDO:0012195 arthrogryposis-severe scoliosis syndrome MONDO:8000032 Orphanet:65720 Orphanet:377789 obsolete malformation syndrome +MONDO:0012198 PCWH syndrome MONDO:0015184 Orphanet:163746 Orphanet:104009 obsolete rare disease involving intestinal motility +MONDO:0012198 PCWH syndrome MONDO:0019589 Orphanet:163746 Orphanet:90642 obsolete syndromic genetic hearing loss +MONDO:0012198 PCWH syndrome MONDO:0035340 Orphanet:163746 Orphanet:557866 obsolete rare disorder with hirschsprung disease as a major feature +MONDO:0012198 PCWH syndrome MONDO:0035862 Orphanet:163746 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome +MONDO:0012203 familial hyperthyroidism due to mutations in TSH receptor MONDO:0015512 Orphanet:424 Orphanet:156629 obsolete genetic hypertension +MONDO:0012203 familial hyperthyroidism due to mutations in TSH receptor MONDO:0015894 Orphanet:424 Orphanet:181399 obsolete rare hyperthyroidism +MONDO:0012209 branchiogenic deafness syndrome MONDO:0019589 Orphanet:50815 Orphanet:90642 obsolete syndromic genetic hearing loss +MONDO:0012209 branchiogenic deafness syndrome MONDO:0020253 Orphanet:50815 Orphanet:98683 obsolete syndrome with a symptomatic strabismus +MONDO:0012209 branchiogenic deafness syndrome MONDO:0035863 Orphanet:50815 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0012209 branchiogenic deafness syndrome MONDO:8000032 Orphanet:50815 Orphanet:377789 obsolete malformation syndrome +MONDO:0012211 MPDU1-congenital disorder of glycosylation MONDO:0018287 Orphanet:79323 Orphanet:371071 obsolete congenital disorder of glycosylation with epilepsy as a major feature +MONDO:0012211 MPDU1-congenital disorder of glycosylation MONDO:0018293 Orphanet:79323 Orphanet:371200 obsolete congenital disorder of glycosylation with skin involvement +MONDO:0012211 MPDU1-congenital disorder of glycosylation MONDO:0035862 Orphanet:79323 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome +MONDO:0012213 hereditary spastic paraplegia 26 MONDO:0015089 Orphanet:101006 Orphanet:100981 obsolete autosomal recessive complex spastic paraplegia +MONDO:0012213 hereditary spastic paraplegia 26 MONDO:0035862 Orphanet:101006 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome +MONDO:0012215 myofibrillar myopathy 3 MONDO:0016201 Orphanet:266 Orphanet:209224 obsolete qualitative or quantitative defects of myotilin +MONDO:0012215 myofibrillar myopathy 3 MONDO:0016201 Orphanet:268129 Orphanet:209224 obsolete qualitative or quantitative defects of myotilin +MONDO:0012215 myofibrillar myopathy 3 MONDO:0016201 Orphanet:98911 Orphanet:209224 obsolete qualitative or quantitative defects of myotilin +MONDO:0012216 foveal hypoplasia - optic nerve decussation defect - anterior segment dysgenesis syndrome MONDO:0034965 Orphanet:397618 Orphanet:519349 obsolete rare ophthalmic disorder with cranial nerve involvement +MONDO:0012220 Griscelli syndrome type 3 MONDO:8000031 Orphanet:79478 Orphanet:557494 obsolete subtype of a disorder +MONDO:0012221 alpha-N-acetylgalactosaminidase deficiency type 1 MONDO:8000031 Orphanet:79279 Orphanet:557494 obsolete subtype of a disorder +MONDO:0012222 alpha-N-acetylgalactosaminidase deficiency type 2 MONDO:8000031 Orphanet:79280 Orphanet:557494 obsolete subtype of a disorder +MONDO:0012248 autosomal recessive limb-girdle muscular dystrophy type 2K MONDO:0017745 Orphanet:86812 Orphanet:309469 obsolete disorder of O-mannosylglycan synthesis +MONDO:0012248 autosomal recessive limb-girdle muscular dystrophy type 2K MONDO:0018284 Orphanet:86812 Orphanet:371047 obsolete congenital disorder of glycosylation with neurological involvement +MONDO:0012248 autosomal recessive limb-girdle muscular dystrophy type 2K MONDO:0035862 Orphanet:86812 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome +MONDO:0012251 MEDNIK syndrome MONDO:0017272 Orphanet:171851 Orphanet:281238 obsolete autosomal ichthyosis syndrome with prominent neurologics signs +MONDO:0012251 MEDNIK syndrome MONDO:0019589 Orphanet:171851 Orphanet:90642 obsolete syndromic genetic hearing loss +MONDO:0012251 MEDNIK syndrome MONDO:0026150 Orphanet:171851 Orphanet:183438 obsolete genetic erythrokeratoderma +MONDO:0012251 MEDNIK syndrome MONDO:0035862 Orphanet:171851 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome +MONDO:0012256 hereditary spastic paraplegia 28 MONDO:0015090 Orphanet:101008 Orphanet:100982 obsolete autosomal recessive pure spastic paraplegia +MONDO:0012258 epidermolysis bullosa simplex 2E, with migratory circinate erythema MONDO:0035684 Orphanet:158681 Orphanet:595346 obsolete epidermolysis bullosa simplex without extracutaneous involvement +MONDO:0012269 chromosome 3q29 microdeletion syndrome MONDO:8000032 Orphanet:65286 Orphanet:377789 obsolete malformation syndrome +MONDO:0012271 mesoaxial synostotic syndactyly with phalangeal reduction MONDO:8000030 Orphanet:157801 Orphanet:377791 obsolete morphological anomaly +MONDO:0012275 fetal valproate syndrome MONDO:0015323 Orphanet:1906 Orphanet:138059 obsolete teratogenic Pierre Robin syndrome +MONDO:0012275 fetal valproate syndrome MONDO:0018262 Orphanet:1906 Orphanet:370068 obsolete fetal anticonvulsant syndrome +MONDO:0012275 fetal valproate syndrome MONDO:8000032 Orphanet:1906 Orphanet:377789 obsolete malformation syndrome +MONDO:0012280 Goldberg-Shprintzen megacolon syndrome MONDO:0015184 Orphanet:66629 Orphanet:104009 obsolete rare disease involving intestinal motility +MONDO:0012280 Goldberg-Shprintzen megacolon syndrome MONDO:0015335 Orphanet:66629 Orphanet:139039 obsolete Mendelian syndromes with cleft lip/palate +MONDO:0012280 Goldberg-Shprintzen megacolon syndrome MONDO:0020169 Orphanet:66629 Orphanet:98578 obsolete rare disorder with ptosis +MONDO:0012280 Goldberg-Shprintzen megacolon syndrome MONDO:0035340 Orphanet:66629 Orphanet:557866 obsolete rare disorder with hirschsprung disease as a major feature +MONDO:0012280 Goldberg-Shprintzen megacolon syndrome MONDO:0035863 Orphanet:66629 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0012280 Goldberg-Shprintzen megacolon syndrome MONDO:8000032 Orphanet:66629 Orphanet:377789 obsolete malformation syndrome +MONDO:0012290 CEDNIK syndrome MONDO:0017273 Orphanet:66631 Orphanet:281241 obsolete autosomal ichthyosis syndrome with fatal disease course +MONDO:0012290 CEDNIK syndrome MONDO:0017671 Orphanet:66631 Orphanet:307804 obsolete autosomal recessive disease with diffuse palmoplantar keratoderma as a major feature +MONDO:0012290 CEDNIK syndrome MONDO:0035862 Orphanet:66631 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome +MONDO:0012297 SPOAN syndrome MONDO:0018550 Orphanet:320406 Orphanet:431320 obsolete spastic paraplegia-optic atrophy-neuropathy and spastic paraplegia-optic atrophy-neuropathy-related disorder +MONDO:0012301 mitochondrial DNA depletion syndrome, myopathic form MONDO:0019058 Orphanet:254875 Orphanet:68385 obsolete neurometabolic disease +MONDO:0012307 familial scaphocephaly syndrome, McGillivray type MONDO:0035863 Orphanet:168624 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0012307 familial scaphocephaly syndrome, McGillivray type MONDO:8000032 Orphanet:168624 Orphanet:377789 obsolete malformation syndrome +MONDO:0012308 Joubert syndrome with renal defect MONDO:0017118 Orphanet:220497 Orphanet:269523 obsolete syndrome with a cerebellar malformation as major feature +MONDO:0012308 Joubert syndrome with renal defect MONDO:0022405 Orphanet:220497 Orphanet:156180 obsolete retinal ciliopathy due to mutation in nephronophthisis gene +MONDO:0012308 Joubert syndrome with renal defect MONDO:0022409 Orphanet:220497 Orphanet:156162 obsolete nephropathy-associated ciliopathy +MONDO:0012308 Joubert syndrome with renal defect MONDO:0035863 Orphanet:220497 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0012308 Joubert syndrome with renal defect MONDO:8000032 Orphanet:220497 Orphanet:377789 obsolete malformation syndrome +MONDO:0012315 distal 10q deletion syndrome MONDO:8000032 Orphanet:96148 Orphanet:377789 obsolete malformation syndrome +MONDO:0012316 Majeed syndrome MONDO:0017369 Orphanet:77297 Orphanet:290839 obsolete autoinflammatory syndrome with immune deficiency +MONDO:0012316 Majeed syndrome MONDO:0017370 Orphanet:77297 Orphanet:290842 obsolete autoinflammatory syndrome with skin involvement +MONDO:0012316 Majeed syndrome MONDO:0017397 Orphanet:77297 Orphanet:293830 obsolete constitutional dyserythropoietic anemia +MONDO:0012316 Majeed syndrome MONDO:0017954 Orphanet:77297 Orphanet:324927 obsolete pyogenic autoinflammatory syndrome +MONDO:0012316 Majeed syndrome MONDO:0800092 Orphanet:77297 Orphanet:498445 obsolete hereditary inflammatory or rheumatoid-like osteoarthropathy +MONDO:0012316 Majeed syndrome MONDO:0957404 Orphanet:77297 Orphanet:324942 obsolete pyogenic autoinflammatory syndrome of childhood +MONDO:0012323 lethal acantholytic epidermolysis bullosa MONDO:0019274 Orphanet:158687 Orphanet:79359 obsolete other epidermal disorder +MONDO:0012323 lethal acantholytic epidermolysis bullosa MONDO:0019275 Orphanet:158687 Orphanet:79360 obsolete other genetic epidermal disease +MONDO:0012324 Frias syndrome MONDO:0043008 Orphanet:264200 Orphanet:330206 obsolete genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability +MONDO:0012324 Frias syndrome MONDO:8000032 Orphanet:264200 Orphanet:377789 obsolete malformation syndrome +MONDO:0012330 talo-patello-scaphoid osteolysis MONDO:8000032 Orphanet:50809 Orphanet:377789 obsolete malformation syndrome +MONDO:0012335 obesity due to pro-opiomelanocortin deficiency MONDO:0015825 Orphanet:71526 Orphanet:179490 obsolete obesity due to congenital leptin resistance +MONDO:0012342 7q11.23 microduplication syndrome MONDO:8000032 Orphanet:96121 Orphanet:377789 obsolete malformation syndrome +MONDO:0012351 zygodactyly type 1 MONDO:8000031 Orphanet:295187 Orphanet:557494 obsolete subtype of a disorder +MONDO:0012354 platelet-type bleeding disorder 8 MONDO:0017142 Orphanet:36355 Orphanet:275736 obsolete hemorrhagic disorder due to a qualitative platelet defect +MONDO:0012368 aminoacylase 1 deficiency MONDO:0019058 Orphanet:137754 Orphanet:68385 obsolete neurometabolic disease +MONDO:0012368 aminoacylase 1 deficiency MONDO:0035862 Orphanet:137754 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome +MONDO:0012382 hyperinsulinemic hypoglycemia, familial, 4 MONDO:0016401 Orphanet:71212 Orphanet:225696 obsolete energy metabolism disorder with epilepsy +MONDO:0012382 hyperinsulinemic hypoglycemia, familial, 4 MONDO:0019058 Orphanet:71212 Orphanet:68385 obsolete neurometabolic disease +MONDO:0012383 primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency MONDO:0015707 Orphanet:75391 Orphanet:169346 obsolete DNA repair defect other than combined T-cell and B-cell immunodeficiencies +MONDO:0012387 osteosclerosis-ichthyosis-premature ovarian failure syndrome MONDO:0018401 Orphanet:75325 Orphanet:399853 obsolete female infertility due to an anomaly of ovarian function +MONDO:0012387 osteosclerosis-ichthyosis-premature ovarian failure syndrome MONDO:0018413 Orphanet:75325 Orphanet:400022 obsolete female infertility due to an anomaly of ovarian function of genetic origin +MONDO:0012387 osteosclerosis-ichthyosis-premature ovarian failure syndrome MONDO:0029102 Orphanet:75325 Orphanet:281244 obsolete autosomal ichthyosis syndrome with other associated signs +MONDO:0012387 osteosclerosis-ichthyosis-premature ovarian failure syndrome MONDO:0034443 Orphanet:75325 Orphanet:485382 obsolete genetic non-acquired premature ovarian failure +MONDO:0012387 osteosclerosis-ichthyosis-premature ovarian failure syndrome MONDO:0800084 Orphanet:75325 Orphanet:93444 obsolete primary bone dysplasia with increased bone density +MONDO:0012391 neuronal ceroid lipofuscinosis 8 northern epilepsy variant MONDO:0035863 Orphanet:1947 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0012392 2-methylbutyryl-CoA dehydrogenase deficiency MONDO:0016399 Orphanet:79157 Orphanet:225689 obsolete amino acid or protein metabolism disease with epilepsy +MONDO:0012392 2-methylbutyryl-CoA dehydrogenase deficiency MONDO:0019058 Orphanet:79157 Orphanet:68385 obsolete neurometabolic disease +MONDO:0012393 congenital brain dysgenesis due to glutamine synthetase deficiency MONDO:0019058 Orphanet:71278 Orphanet:68385 obsolete neurometabolic disease +MONDO:0012393 congenital brain dysgenesis due to glutamine synthetase deficiency MONDO:0035862 Orphanet:71278 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome +MONDO:0012399 complex cortical dysplasia with other brain malformations 7 MONDO:0017118 Orphanet:300573 Orphanet:269523 obsolete syndrome with a cerebellar malformation as major feature +MONDO:0012399 complex cortical dysplasia with other brain malformations 7 MONDO:0017120 Orphanet:300573 Orphanet:269531 obsolete other syndrome with a central nervous system malformation as major feature +MONDO:0012399 complex cortical dysplasia with other brain malformations 7 MONDO:0035863 Orphanet:300573 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0012399 complex cortical dysplasia with other brain malformations 7 MONDO:8000032 Orphanet:300573 Orphanet:377789 obsolete malformation syndrome +MONDO:0012400 cortical dysplasia-focal epilepsy syndrome MONDO:0035862 Orphanet:163681 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome +MONDO:0012407 pyridoxal phosphate-responsive seizures MONDO:0016404 Orphanet:79096 Orphanet:225707 obsolete metabolic neurotransmission anomaly with epilepsy +MONDO:0012407 pyridoxal phosphate-responsive seizures MONDO:0017760 Orphanet:79096 Orphanet:309833 obsolete disorder of other vitamins and cofactors metabolism and transport +MONDO:0012407 pyridoxal phosphate-responsive seizures MONDO:0019058 Orphanet:79096 Orphanet:68385 obsolete neurometabolic disease +MONDO:0012407 pyridoxal phosphate-responsive seizures MONDO:0035862 Orphanet:79096 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome +MONDO:0012413 syndromic microphthalmia type 5 MONDO:8000032 Orphanet:178364 Orphanet:377789 obsolete malformation syndrome +MONDO:0012417 heart-hand syndrome, Slovenian type MONDO:0015110 Orphanet:168796 Orphanet:101934 obsolete genetic cardiac rhythm disease +MONDO:0012417 heart-hand syndrome, Slovenian type MONDO:0016337 Orphanet:168796 Orphanet:217619 obsolete syndrome associated with dilated cardiomyopathy +MONDO:0012417 heart-hand syndrome, Slovenian type MONDO:0029810 Orphanet:168796 Orphanet:300755 obsolete laminopathy with striated muscle involvement +MONDO:0012417 heart-hand syndrome, Slovenian type MONDO:8000032 Orphanet:168796 Orphanet:377789 obsolete malformation syndrome +MONDO:0012423 MORM syndrome MONDO:0016565 Orphanet:75858 Orphanet:240371 obsolete syndromic genetic obesity +MONDO:0012423 MORM syndrome MONDO:0034953 Orphanet:75858 Orphanet:519325 obsolete syndromic inherited retinal disorder +MONDO:0012423 MORM syndrome MONDO:0035862 Orphanet:75858 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome +MONDO:0012435 3-methylglutaconic aciduria type 5 MONDO:0016337 Orphanet:66634 Orphanet:217619 obsolete syndrome associated with dilated cardiomyopathy +MONDO:0012435 3-methylglutaconic aciduria type 5 MONDO:0035862 Orphanet:66634 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome +MONDO:0012439 Alagille syndrome due to a NOTCH2 point mutation MONDO:8000031 Orphanet:261629 Orphanet:557494 obsolete subtype of a disorder +MONDO:0012446 seborrhea-like dermatitis with psoriasiform elements MONDO:0015946 Orphanet:168606 Orphanet:183426 obsolete rare genetic epidermal disorder +MONDO:0012446 seborrhea-like dermatitis with psoriasiform elements MONDO:0019274 Orphanet:168606 Orphanet:79359 obsolete other epidermal disorder +MONDO:0012447 synpolydactyly type 3 MONDO:8000031 Orphanet:295199 Orphanet:557494 obsolete subtype of a disorder +MONDO:0012450 spinocerebellar ataxia type 28 MONDO:0018157 Orphanet:101109 Orphanet:35696 obsolete mitochondrial disorder due to a defect in mitochondrial protein synthesis +MONDO:0012453 hereditary spastic paraplegia 31 MONDO:0017914 Orphanet:101011 Orphanet:320342 obsolete pure or complex autosomal dominant spastic paraplegia +MONDO:0012455 Kleefstra syndrome MONDO:0035863 Orphanet:261494 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0012455 Kleefstra syndrome MONDO:8000032 Orphanet:261494 Orphanet:377789 obsolete malformation syndrome +MONDO:0012456 congenital primary aphakia MONDO:0020145 Orphanet:83461 Orphanet:98553 obsolete developmental defect of the eye +MONDO:0012456 congenital primary aphakia MONDO:0020223 Orphanet:83461 Orphanet:98639 obsolete lens and zonula anomaly +MONDO:0012456 congenital primary aphakia MONDO:0026186 Orphanet:83461 Orphanet:183557 obsolete genetic developmental defect of the eye +MONDO:0012456 congenital primary aphakia MONDO:8000032 Orphanet:83461 Orphanet:377789 obsolete malformation syndrome +MONDO:0012462 autosomal recessive frontotemporal pachygyria MONDO:0015572 Orphanet:329329 Orphanet:163209 obsolete cerebral malformation due to abnormal neuronal migration +MONDO:0012462 autosomal recessive frontotemporal pachygyria MONDO:8000032 Orphanet:329329 Orphanet:377789 obsolete malformation syndrome +MONDO:0012465 hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency MONDO:0016633 Orphanet:83639 Orphanet:248361 obsolete thrombotic disorder due to a constitutional coagulation factors defect +MONDO:0012465 hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency MONDO:0018287 Orphanet:83639 Orphanet:371071 obsolete congenital disorder of glycosylation with epilepsy as a major feature +MONDO:0012476 hereditary spastic paraplegia 30 MONDO:0017914 Orphanet:101010 Orphanet:320342 obsolete pure or complex autosomal dominant spastic paraplegia +MONDO:0012476 hereditary spastic paraplegia 30 MONDO:0017915 Orphanet:101010 Orphanet:320346 obsolete pure or complex autosomal recessive spastic paraplegia +MONDO:0012479 congenital malabsorptive diarrhea 4 MONDO:0015182 Orphanet:83620 Orphanet:104007 obsolete congenital enteropathy involving intestinal mucosa development +MONDO:0012481 mevalonic aciduria MONDO:0020228 Orphanet:29 Orphanet:98644 obsolete cataract associated with a metabolic disease +MONDO:0012481 mevalonic aciduria MONDO:0035862 Orphanet:29 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome +MONDO:0012481 mevalonic aciduria MONDO:8000031 Orphanet:29 Orphanet:557494 obsolete subtype of a disorder +MONDO:0012496 Koolen-de Vries syndrome MONDO:0035863 Orphanet:96169 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0012496 Koolen-de Vries syndrome MONDO:8000032 Orphanet:96169 Orphanet:377789 obsolete malformation syndrome +MONDO:0012502 normophosphatemic familial tumoral calcinosis MONDO:8000031 Orphanet:306658 Orphanet:557494 obsolete subtype of a disorder +MONDO:0012504 camptodactyly-tall stature-scoliosis-hearing loss syndrome MONDO:0019711 Orphanet:85164 Orphanet:93454 obsolete dysostosis with predominant vertebral and costal involvement +MONDO:0012508 agammaglobulinemia-microcephaly-craniosynostosis-severe dermatitis syndrome MONDO:0019305 Orphanet:83617 Orphanet:79391 obsolete immune deficiency with skin involvement +MONDO:0012508 agammaglobulinemia-microcephaly-craniosynostosis-severe dermatitis syndrome MONDO:0026166 Orphanet:83617 Orphanet:183494 obsolete genetic immune deficiency with skin involvement +MONDO:0012508 agammaglobulinemia-microcephaly-craniosynostosis-severe dermatitis syndrome MONDO:0035863 Orphanet:83617 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0012508 agammaglobulinemia-microcephaly-craniosynostosis-severe dermatitis syndrome MONDO:8000032 Orphanet:83617 Orphanet:377789 obsolete malformation syndrome +MONDO:0012510 combined oxidative phosphorylation defect type 2 MONDO:0018157 Orphanet:254920 Orphanet:35696 obsolete mitochondrial disorder due to a defect in mitochondrial protein synthesis +MONDO:0012512 fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3 MONDO:0018157 Orphanet:168566 Orphanet:35696 obsolete mitochondrial disorder due to a defect in mitochondrial protein synthesis +MONDO:0012512 fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3 MONDO:0035862 Orphanet:168566 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome +MONDO:0012514 hypomyelinating leukodystrophy 5 MONDO:0020225 Orphanet:85163 Orphanet:98641 obsolete syndromic cataract +MONDO:0012514 hypomyelinating leukodystrophy 5 MONDO:0035862 Orphanet:85163 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome +MONDO:0012514 hypomyelinating leukodystrophy 5 MONDO:8000032 Orphanet:85163 Orphanet:377789 obsolete malformation syndrome +MONDO:0012516 mandibulofacial dysostosis-microcephaly syndrome MONDO:0015334 Orphanet:79113 Orphanet:139036 obsolete branchial arch or oral-acral syndrome +MONDO:0012516 mandibulofacial dysostosis-microcephaly syndrome MONDO:0015335 Orphanet:79113 Orphanet:139039 obsolete Mendelian syndromes with cleft lip/palate +MONDO:0012516 mandibulofacial dysostosis-microcephaly syndrome MONDO:0026189 Orphanet:79113 Orphanet:183576 obsolete genetic branchial arch or oral-acral syndrome +MONDO:0012516 mandibulofacial dysostosis-microcephaly syndrome MONDO:0035863 Orphanet:79113 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0012516 mandibulofacial dysostosis-microcephaly syndrome MONDO:8000032 Orphanet:79113 Orphanet:377789 obsolete malformation syndrome +MONDO:0012517 Gaucher disease due to saposin C deficiency MONDO:8000031 Orphanet:309252 Orphanet:557494 obsolete subtype of a disorder +MONDO:0012519 Rubinstein-Taybi syndrome due to 16p13.3 microdeletion MONDO:8000031 Orphanet:353281 Orphanet:557494 obsolete subtype of a disorder +MONDO:0012520 insulin-resistance syndrome type A MONDO:0015885 Orphanet:2297 Orphanet:181368 obsolete rare insulin-resistance syndrome +MONDO:0012520 insulin-resistance syndrome type A MONDO:0018401 Orphanet:2297 Orphanet:399853 obsolete female infertility due to an anomaly of ovarian function +MONDO:0012520 insulin-resistance syndrome type A MONDO:0018413 Orphanet:2297 Orphanet:400022 obsolete female infertility due to an anomaly of ovarian function of genetic origin +MONDO:0012521 herpes simplex encephalitis MONDO:0015659 Orphanet:1930 Orphanet:166490 obsolete infectious disease with epilepsy +MONDO:0012521 herpes simplex encephalitis MONDO:0020141 Orphanet:1930 Orphanet:98542 obsolete infectious disease with dementia +MONDO:0012526 hereditary angioedema type 3 MONDO:0033947 Orphanet:100054 Orphanet:528647 obsolete hereditary angioedema with normal C1Inh +MONDO:0012526 hereditary angioedema type 3 MONDO:8000031 Orphanet:100054 Orphanet:557494 obsolete subtype of a disorder +MONDO:0012530 palmoplantar keratoderma-XX sex reversal-predisposition to squamous cell carcinoma syndrome MONDO:0017671 Orphanet:85112 Orphanet:307804 obsolete autosomal recessive disease with diffuse palmoplantar keratoderma as a major feature +MONDO:0012530 palmoplantar keratoderma-XX sex reversal-predisposition to squamous cell carcinoma syndrome MONDO:0017965 Orphanet:85112 Orphanet:325109 obsolete syndrome with 46,XX disorder of sex development +MONDO:0012530 palmoplantar keratoderma-XX sex reversal-predisposition to squamous cell carcinoma syndrome MONDO:0017978 Orphanet:85112 Orphanet:325638 obsolete syndrome with disorder of sex development of gynecological interest +MONDO:0012534 combined oxidative phosphorylation defect type 4 MONDO:0018157 Orphanet:254925 Orphanet:35696 obsolete mitochondrial disorder due to a defect in mitochondrial protein synthesis +MONDO:0012541 deafness with labyrinthine aplasia, microtia, and microdontia MONDO:0019589 Orphanet:90024 Orphanet:90642 obsolete syndromic genetic hearing loss +MONDO:0012541 deafness with labyrinthine aplasia, microtia, and microdontia MONDO:8000032 Orphanet:90024 Orphanet:377789 obsolete malformation syndrome +MONDO:0012544 brachydactyly-syndactyly syndrome MONDO:0017434 Orphanet:93409 Orphanet:294959 obsolete syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy +MONDO:0012544 brachydactyly-syndactyly syndrome MONDO:8000032 Orphanet:93409 Orphanet:377789 obsolete malformation syndrome +MONDO:0012549 autosomal recessive ataxia, Beauce type MONDO:0035862 Orphanet:88644 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome +MONDO:0012556 DK1-congenital disorder of glycosylation MONDO:0018289 Orphanet:91131 Orphanet:371176 obsolete congenital disorder of glycosylation with dilated cardiomyopathy +MONDO:0012556 DK1-congenital disorder of glycosylation MONDO:0018293 Orphanet:91131 Orphanet:371200 obsolete congenital disorder of glycosylation with skin involvement +MONDO:0012556 DK1-congenital disorder of glycosylation MONDO:0029102 Orphanet:91131 Orphanet:281244 obsolete autosomal ichthyosis syndrome with other associated signs +MONDO:0012557 cardiomyopathy-hypotonia-lactic acidosis syndrome MONDO:0026989 Orphanet:91130 Orphanet:217595 obsolete syndrome associated with hypertrophic cardiomyopathy +MONDO:0012559 primary immunodeficiency syndrome due to p14 deficiency MONDO:0018032 Orphanet:90023 Orphanet:331184 obsolete constitutional neutropenia with extra-hematopoietic manifestations +MONDO:0012574 Potocki-Lupski syndrome MONDO:0035863 Orphanet:1713 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0012574 Potocki-Lupski syndrome MONDO:8000032 Orphanet:1713 Orphanet:377789 obsolete malformation syndrome +MONDO:0012579 autoimmune pulmonary alveolar proteinosis MONDO:0017027 Orphanet:747 Orphanet:264740 obsolete primary interstitial lung disease specific to adulthood +MONDO:0012580 hereditary pulmonary alveolar proteinosis MONDO:0015052 Orphanet:264675 Orphanet:100049 obsolete primary interstitial lung disease specific to childhood due to pulmonary surfactant protein anomalies +MONDO:0012580 hereditary pulmonary alveolar proteinosis MONDO:0015133 Orphanet:264675 Orphanet:101985 obsolete quantitative and/or qualitative congenital phagocyte defect +MONDO:0012582 interstitial lung disease due to ABCA3 deficiency MONDO:0015052 Orphanet:440402 Orphanet:100049 obsolete primary interstitial lung disease specific to childhood due to pulmonary surfactant protein anomalies +MONDO:0012589 Pitt-Hopkins syndrome MONDO:0035863 Orphanet:2896 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0012589 Pitt-Hopkins syndrome MONDO:8000032 Orphanet:2896 Orphanet:377789 obsolete malformation syndrome +MONDO:0012591 osteogenesis imperfecta type 5 MONDO:8000031 Orphanet:216828 Orphanet:557494 obsolete subtype of a disorder +MONDO:0012593 brain-lung-thyroid syndrome MONDO:0015052 Orphanet:209905 Orphanet:100049 obsolete primary interstitial lung disease specific to childhood due to pulmonary surfactant protein anomalies +MONDO:0012593 brain-lung-thyroid syndrome MONDO:0015778 Orphanet:209905 Orphanet:177107 obsolete syndromic hypothyroidism +MONDO:0012593 brain-lung-thyroid syndrome MONDO:0017646 Orphanet:209905 Orphanet:306719 obsolete neurodegenerative disease with chorea +MONDO:0012593 brain-lung-thyroid syndrome MONDO:0035862 Orphanet:209905 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome +MONDO:0012594 complement factor I deficiency MONDO:0018727 Orphanet:200418 Orphanet:459348 obsolete immunodeficiency due to a complement regulatory deficiency +MONDO:0012596 PSAT deficiency MONDO:8000031 Orphanet:284417 Orphanet:557494 obsolete subtype of a disorder +MONDO:0012608 neuronopathy, distal hereditary motor, autosomal recessive 4 MONDO:0016116 Orphanet:206580 Orphanet:206710 obsolete generalized bulbospinal muscular atrophy +MONDO:0012611 polyhydramnios, megalencephaly, and symptomatic epilepsy MONDO:0035863 Orphanet:500533 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0012621 deafness-infertility syndrome MONDO:0018395 Orphanet:94064 Orphanet:399813 obsolete male infertility due to sperm motility disorder +MONDO:0012621 deafness-infertility syndrome MONDO:0019589 Orphanet:94064 Orphanet:90642 obsolete syndromic genetic hearing loss +MONDO:0012621 deafness-infertility syndrome MONDO:8000032 Orphanet:94064 Orphanet:377789 obsolete malformation syndrome +MONDO:0012622 leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome MONDO:0018157 Orphanet:137898 Orphanet:35696 obsolete mitochondrial disorder due to a defect in mitochondrial protein synthesis +MONDO:0012622 leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome MONDO:0035862 Orphanet:137898 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome +MONDO:0012624 acyl-CoA dehydrogenase 9 deficiency MONDO:0016328 Orphanet:99901 Orphanet:217591 obsolete fatty acid oxidation and ketogenesis disorder with hypertrophic cardiomyopathy +MONDO:0012624 acyl-CoA dehydrogenase 9 deficiency MONDO:0016336 Orphanet:99901 Orphanet:217616 obsolete fatty acid oxidation and ketogenesis disorder with dilated cardiomyopathy +MONDO:0012624 acyl-CoA dehydrogenase 9 deficiency MONDO:0016804 Orphanet:99901 Orphanet:254843 obsolete exercise intolerance with lactic acidosis +MONDO:0012634 craniofacial dysplasia - osteopenia syndrome MONDO:0015336 Orphanet:314555 Orphanet:139042 obsolete malformation syndrome with odontal and/or periodontal component +MONDO:0012634 craniofacial dysplasia - osteopenia syndrome MONDO:0018488 Orphanet:314555 Orphanet:420755 obsolete rare genetic odontal or periodontal disorder +MONDO:0012634 craniofacial dysplasia - osteopenia syndrome MONDO:0035863 Orphanet:314555 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0012634 craniofacial dysplasia - osteopenia syndrome MONDO:0800085 Orphanet:314555 Orphanet:93453 obsolete dysostosis with predominant craniofacial involvement +MONDO:0012634 craniofacial dysplasia - osteopenia syndrome MONDO:8000032 Orphanet:314555 Orphanet:377789 obsolete malformation syndrome +MONDO:0012635 COG8-congenital disorder of glycosylation MONDO:0018287 Orphanet:95428 Orphanet:371071 obsolete congenital disorder of glycosylation with epilepsy as a major feature +MONDO:0012635 COG8-congenital disorder of glycosylation MONDO:0035862 Orphanet:95428 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome +MONDO:0012637 COG1-congenital disorder of glycosylation MONDO:0018284 Orphanet:263508 Orphanet:371047 obsolete congenital disorder of glycosylation with neurological involvement +MONDO:0012637 COG1-congenital disorder of glycosylation MONDO:0018290 Orphanet:263508 Orphanet:371183 obsolete congenital disorder of glycosylation with cardiac malformation as a major feature +MONDO:0012637 COG1-congenital disorder of glycosylation MONDO:0018292 Orphanet:263508 Orphanet:371195 obsolete congenital disorder of glycosylation-related bone disorder +MONDO:0012637 COG1-congenital disorder of glycosylation MONDO:0018295 Orphanet:263508 Orphanet:371212 obsolete congenital disorder of glycosylation with deafness as a major feature +MONDO:0012637 COG1-congenital disorder of glycosylation MONDO:0019711 Orphanet:263508 Orphanet:93454 obsolete dysostosis with predominant vertebral and costal involvement +MONDO:0012637 COG1-congenital disorder of glycosylation MONDO:0035862 Orphanet:263508 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome +MONDO:0012638 microphthalmia-brain atrophy syndrome MONDO:0015918 Orphanet:77299 Orphanet:182070 obsolete rare neurodegenerative disease +MONDO:0012638 microphthalmia-brain atrophy syndrome MONDO:0035863 Orphanet:77299 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0012638 microphthalmia-brain atrophy syndrome MONDO:8000032 Orphanet:77299 Orphanet:377789 obsolete malformation syndrome +MONDO:0012639 hereditary spastic paraplegia 18 MONDO:0017914 Orphanet:209951 Orphanet:320342 obsolete pure or complex autosomal dominant spastic paraplegia +MONDO:0012639 hereditary spastic paraplegia 18 MONDO:0035862 Orphanet:209951 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome +MONDO:0012643 hereditary spastic paraplegia 32 MONDO:0015089 Orphanet:171622 Orphanet:100981 obsolete autosomal recessive complex spastic paraplegia +MONDO:0012648 isobutyryl-CoA dehydrogenase deficiency MONDO:0016337 Orphanet:79159 Orphanet:217619 obsolete syndrome associated with dilated cardiomyopathy +MONDO:0012650 Cernunnos-XLF deficiency MONDO:0015945 Orphanet:169079 Orphanet:183422 obsolete polymalformative genetic syndrome with increased risk of developing cancer +MONDO:0012651 spastic ataxia 2 MONDO:0015089 Orphanet:397946 Orphanet:100981 obsolete autosomal recessive complex spastic paraplegia +MONDO:0012652 autosomal recessive limb-girdle muscular dystrophy type 2L MONDO:0016157 Orphanet:206549 Orphanet:207122 obsolete qualitative or quantitative defects of fukutin +MONDO:0012656 lethal congenital contracture syndrome 3 MONDO:0043008 Orphanet:137783 Orphanet:330206 obsolete genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability +MONDO:0012656 lethal congenital contracture syndrome 3 MONDO:8000032 Orphanet:137783 Orphanet:377789 obsolete malformation syndrome +MONDO:0012658 brachydactyly type B2 MONDO:8000031 Orphanet:140908 Orphanet:557494 obsolete subtype of a disorder +MONDO:0012664 spastic ataxia 3 MONDO:0018157 Orphanet:314603 Orphanet:35696 obsolete mitochondrial disorder due to a defect in mitochondrial protein synthesis +MONDO:0012664 spastic ataxia 3 MONDO:0035862 Orphanet:314603 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome +MONDO:0012669 Legius syndrome MONDO:0035862 Orphanet:137605 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome +MONDO:0012669 Legius syndrome MONDO:8000032 Orphanet:137605 Orphanet:377789 obsolete malformation syndrome +MONDO:0012675 corticosteroid-binding globulin deficiency MONDO:0015124 Orphanet:199247 Orphanet:101954 obsolete rare adrenal disease +MONDO:0012675 corticosteroid-binding globulin deficiency MONDO:0015971 Orphanet:199247 Orphanet:183637 obsolete rare genetic adrenal disease +MONDO:0012675 corticosteroid-binding globulin deficiency MONDO:0027751 Orphanet:199247 Orphanet:250811 obsolete serpinopathy with loss of serpin function +MONDO:0012679 autosomal recessive osteopetrosis 6 MONDO:8000032 Orphanet:210110 Orphanet:377789 obsolete malformation syndrome +MONDO:0012682 immunodeficiency 35 MONDO:0017898 Orphanet:331226 Orphanet:319539 obsolete autosomal recessive mendelian susceptibility to mycobacterial diseases due to a partial deficiency +MONDO:0012683 pontocerebellar hypoplasia type 6 MONDO:0018157 Orphanet:166073 Orphanet:35696 obsolete mitochondrial disorder due to a defect in mitochondrial protein synthesis +MONDO:0012683 pontocerebellar hypoplasia type 6 MONDO:8000032 Orphanet:166073 Orphanet:377789 obsolete malformation syndrome +MONDO:0012687 familial cavitary optic disk anomaly MONDO:8000030 Orphanet:464760 Orphanet:377791 obsolete morphological anomaly +MONDO:0012693 glycogen storage disease due to muscle and heart glycogen synthase deficiency MONDO:0016325 Orphanet:137625 Orphanet:217572 obsolete glycogen storage disease with hypertrophic cardiomyopathy +MONDO:0012693 glycogen storage disease due to muscle and heart glycogen synthase deficiency MONDO:0017693 Orphanet:137625 Orphanet:308520 obsolete glycogen storage disease due to glycogen synthase deficiency +MONDO:0012699 autosomal recessive limb-girdle muscular dystrophy type 2M MONDO:0016157 Orphanet:206554 Orphanet:207122 obsolete qualitative or quantitative defects of fukutin +MONDO:0012699 autosomal recessive limb-girdle muscular dystrophy type 2M MONDO:0016334 Orphanet:206554 Orphanet:217610 obsolete neuromuscular disease with dilated cardiomyopathy +MONDO:0012699 autosomal recessive limb-girdle muscular dystrophy type 2M MONDO:0017745 Orphanet:206554 Orphanet:309469 obsolete disorder of O-mannosylglycan synthesis +MONDO:0012699 autosomal recessive limb-girdle muscular dystrophy type 2M MONDO:0018284 Orphanet:206554 Orphanet:371047 obsolete congenital disorder of glycosylation with neurological involvement +MONDO:0012699 autosomal recessive limb-girdle muscular dystrophy type 2M MONDO:0018289 Orphanet:206554 Orphanet:371176 obsolete congenital disorder of glycosylation with dilated cardiomyopathy +MONDO:0012700 renal tubular acidosis, distal, 4, with hemolytic anemia MONDO:0020101 Orphanet:93610 Orphanet:98364 obsolete constitutional hemolytic anemia due to membrane defect +MONDO:0012700 renal tubular acidosis, distal, 4, with hemolytic anemia MONDO:8000031 Orphanet:93610 Orphanet:557494 obsolete subtype of a disorder +MONDO:0012703 lissencephaly due to TUBA1A mutation MONDO:8000032 Orphanet:171680 Orphanet:377789 obsolete malformation syndrome +MONDO:0012714 early-onset myopathy with fatal cardiomyopathy MONDO:0016110 Orphanet:289377 Orphanet:206656 obsolete non-dystrophic myopathy +MONDO:0012714 early-onset myopathy with fatal cardiomyopathy MONDO:0016334 Orphanet:289377 Orphanet:217610 obsolete neuromuscular disease with dilated cardiomyopathy +MONDO:0012718 hypotonia with lactic acidemia and hyperammonemia MONDO:0018157 Orphanet:137908 Orphanet:35696 obsolete mitochondrial disorder due to a defect in mitochondrial protein synthesis +MONDO:0012719 combined PSAP deficiency MONDO:0018299 Orphanet:139406 Orphanet:371442 obsolete sphingolipidosis with epilepsy +MONDO:0012719 combined PSAP deficiency MONDO:0019058 Orphanet:139406 Orphanet:68385 obsolete neurometabolic disease +MONDO:0012721 progressive myoclonic epilepsy type 3 MONDO:0018284 Orphanet:263516 Orphanet:371047 obsolete congenital disorder of glycosylation with neurological involvement +MONDO:0012721 progressive myoclonic epilepsy type 3 MONDO:0035862 Orphanet:263516 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome +MONDO:0012721 progressive myoclonic epilepsy type 3 MONDO:8000031 Orphanet:263516 Orphanet:557494 obsolete subtype of a disorder +MONDO:0012724 familial cold autoinflammatory syndrome 2 MONDO:0017370 Orphanet:247868 Orphanet:290842 obsolete autoinflammatory syndrome with skin involvement +MONDO:0012726 autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome MONDO:0018790 Orphanet:73229 Orphanet:477765 obsolete COL4A1 or COL4A2-related cerebral small vessel disease with hemorrhagic tendancy +MONDO:0012727 mucocutaneous lymph node syndrome MONDO:0015489 Orphanet:2331 Orphanet:156143 obsolete predominantly medium-vessel vasculitis +MONDO:0012734 SERKAL syndrome MONDO:0017965 Orphanet:139466 Orphanet:325109 obsolete syndrome with 46,XX disorder of sex development +MONDO:0012734 SERKAL syndrome MONDO:8000032 Orphanet:139466 Orphanet:377789 obsolete malformation syndrome +MONDO:0012735 Temple-Baraitser syndrome MONDO:0019285 Orphanet:420561 Orphanet:79370 obsolete syndromic nail anomaly +MONDO:0012735 Temple-Baraitser syndrome MONDO:0035863 Orphanet:420561 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0012739 microtia-eye coloboma-imperforation of the nasolacrimal duct syndrome MONDO:8000032 Orphanet:139450 Orphanet:377789 obsolete malformation syndrome +MONDO:0012740 chromosome 22q11.2 deletion syndrome, distal MONDO:8000032 Orphanet:261330 Orphanet:377789 obsolete malformation syndrome +MONDO:0012747 glycogen storage disease due to aldolase A deficiency MONDO:0020106 Orphanet:57 Orphanet:98372 obsolete hemolytic anemia due to a disorder of glycolytic enzymes +MONDO:0012750 lethal arthrogryposis-anterior horn cell disease syndrome MONDO:8000032 Orphanet:53696 Orphanet:377789 obsolete malformation syndrome +MONDO:0012756 proximal 16p11.2 microdeletion syndrome MONDO:8000032 Orphanet:261197 Orphanet:377789 obsolete malformation syndrome +MONDO:0012757 lung fibrosis-immunodeficiency-46,XX gonadal dysgenesis syndrome MONDO:0017965 Orphanet:137631 Orphanet:325109 obsolete syndrome with 46,XX disorder of sex development +MONDO:0012757 lung fibrosis-immunodeficiency-46,XX gonadal dysgenesis syndrome MONDO:0017978 Orphanet:137631 Orphanet:325638 obsolete syndrome with disorder of sex development of gynecological interest +MONDO:0012757 lung fibrosis-immunodeficiency-46,XX gonadal dysgenesis syndrome MONDO:0028569 Orphanet:137631 Orphanet:264992 obsolete genetic interstitial lung disease +MONDO:0012759 camptodactyly syndrome, Guadalajara type 3 MONDO:0018235 Orphanet:488434 Orphanet:364568 obsolete dysostosis with limb anomaly as a major feature +MONDO:0012759 camptodactyly syndrome, Guadalajara type 3 MONDO:0018455 Orphanet:488434 Orphanet:404571 obsolete dysostosis of genetic origin with limb anomaly as a major feature +MONDO:0012759 camptodactyly syndrome, Guadalajara type 3 MONDO:0035863 Orphanet:488434 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0012759 camptodactyly syndrome, Guadalajara type 3 MONDO:8000032 Orphanet:488434 Orphanet:377789 obsolete malformation syndrome +MONDO:0012761 chromosome 3q29 microduplication syndrome MONDO:8000032 Orphanet:251038 Orphanet:377789 obsolete malformation syndrome +MONDO:0012764 RIDDLE syndrome MONDO:0015707 Orphanet:420741 Orphanet:169346 obsolete DNA repair defect other than combined T-cell and B-cell immunodeficiencies +MONDO:0012764 RIDDLE syndrome MONDO:0020045 Orphanet:420741 Orphanet:98097 obsolete autosomal recessive cerebellar ataxia due to a DNA repair defect +MONDO:0012764 RIDDLE syndrome MONDO:0035862 Orphanet:420741 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome +MONDO:0012764 RIDDLE syndrome MONDO:8000032 Orphanet:420741 Orphanet:377789 obsolete malformation syndrome +MONDO:0012766 hereditary spastic paraplegia 37 MONDO:0015088 Orphanet:171612 Orphanet:100980 obsolete autosomal dominant pure spastic paraplegia +MONDO:0012774 chromosome 15q13.3 microdeletion syndrome MONDO:0015652 Orphanet:199318 Orphanet:166469 obsolete chromosomal anomaly with epilepsy as a major feature +MONDO:0012774 chromosome 15q13.3 microdeletion syndrome MONDO:0020016 Orphanet:199318 Orphanet:98033 obsolete rare neurologic disease with psychiatric involvement +MONDO:0012774 chromosome 15q13.3 microdeletion syndrome MONDO:0035863 Orphanet:199318 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0012774 chromosome 15q13.3 microdeletion syndrome MONDO:8000032 Orphanet:199318 Orphanet:377789 obsolete malformation syndrome +MONDO:0012783 RFT1-congenital disorder of glycosylation MONDO:0018287 Orphanet:244310 Orphanet:371071 obsolete congenital disorder of glycosylation with epilepsy as a major feature +MONDO:0012783 RFT1-congenital disorder of glycosylation MONDO:0018288 Orphanet:244310 Orphanet:371157 obsolete congenital disorder of glycosylation with hepatic involvement +MONDO:0012783 RFT1-congenital disorder of glycosylation MONDO:0018295 Orphanet:244310 Orphanet:371212 obsolete congenital disorder of glycosylation with deafness as a major feature +MONDO:0012783 RFT1-congenital disorder of glycosylation MONDO:0035862 Orphanet:244310 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome +MONDO:0012784 autosomal recessive ataxia due to ubiquinone deficiency MONDO:0035862 Orphanet:139485 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome +MONDO:0012786 juvenile cataract-microcornea-renal glucosuria syndrome MONDO:0019743 Orphanet:247794 Orphanet:93593 obsolete nephropathy secondary to a storage or other metabolic disease +MONDO:0012786 juvenile cataract-microcornea-renal glucosuria syndrome MONDO:0020225 Orphanet:247794 Orphanet:98641 obsolete syndromic cataract +MONDO:0012787 hereditary spastic paraplegia 39 MONDO:0015089 Orphanet:139480 Orphanet:100981 obsolete autosomal recessive complex spastic paraplegia +MONDO:0012787 hereditary spastic paraplegia 39 MONDO:0018118 Orphanet:139480 Orphanet:352306 obsolete disorder of phospholipids, sphingolipids and fatty acids biosynthesis with central nervous system predominant involvement +MONDO:0012789 dystonia 16 MONDO:0017635 Orphanet:210571 Orphanet:306666 obsolete parkinsonian syndrome due to neurodegenerative disease +MONDO:0012789 dystonia 16 MONDO:0017661 Orphanet:210571 Orphanet:307055 obsolete rare parkinsonian syndrome due to genetic neurodegenerative disease +MONDO:0012789 dystonia 16 MONDO:0018329 Orphanet:210571 Orphanet:391711 obsolete persistent combined dystonia +MONDO:0012791 mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria MONDO:0035862 Orphanet:1933 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome +MONDO:0012792 mitochondrial DNA depletion syndrome 8a MONDO:0035862 Orphanet:255235 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome +MONDO:0012794 ANE syndrome MONDO:0015890 Orphanet:157954 Orphanet:181387 obsolete rare disorder with congenital hypogonadotropic hypogonadism +MONDO:0012794 ANE syndrome MONDO:0019827 Orphanet:157954 Orphanet:95495 obsolete disease associated with non-acquired combined pituitary hormone deficiency +MONDO:0012794 ANE syndrome MONDO:0021034 Orphanet:157954 Orphanet:481771 obsolete hereditary alopecia +MONDO:0012794 ANE syndrome MONDO:0035862 Orphanet:157954 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome +MONDO:0012802 oculoauricular syndrome MONDO:8000032 Orphanet:157962 Orphanet:377789 obsolete malformation syndrome +MONDO:0012803 diarrhea-vomiting due to trehalase deficiency MONDO:0015181 Orphanet:103909 Orphanet:104006 obsolete congenital intestinal disease due to an enzymatic defect +MONDO:0012805 childhood onset GLUT1 deficiency syndrome 2 MONDO:0035862 Orphanet:98811 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome +MONDO:0012807 epidermolysis bullosa simplex 5C, with pyloric atresia MONDO:0035685 Orphanet:158684 Orphanet:595351 obsolete epidermolysis bullosa simplex with extracutaneous involvement +MONDO:0012809 histiocytoma, Angiomatoid fibrous MONDO:0019300 Orphanet:569164 Orphanet:79386 obsolete rare skin tumor or hamartoma +MONDO:0012812 developmental and epileptic encephalopathy, 4 MONDO:0035862 Orphanet:599373 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome +MONDO:0012815 Coats plus syndrome MONDO:0018787 Orphanet:313838 Orphanet:477754 obsolete genetic cerebral small vessel disease +MONDO:0012815 Coats plus syndrome MONDO:0034954 Orphanet:313838 Orphanet:519327 obsolete syndromic vitreoretinopathy +MONDO:0012824 hypomyelinating leukodystrophy 4 MONDO:8000031 Orphanet:280288 Orphanet:557494 obsolete subtype of a disorder +MONDO:0012830 chromosome 10q23 deletion syndrome MONDO:8000032 Orphanet:276413 Orphanet:377789 obsolete malformation syndrome +MONDO:0012833 Crouzon syndrome-acanthosis nigricans syndrome MONDO:0020254 Orphanet:93262 Orphanet:98684 obsolete craniostenosis associated with a strabismus +MONDO:0012833 Crouzon syndrome-acanthosis nigricans syndrome MONDO:8000032 Orphanet:93262 Orphanet:377789 obsolete malformation syndrome +MONDO:0012853 Fontaine progeroid syndrome MONDO:0020253 Orphanet:2963 Orphanet:98683 obsolete syndrome with a symptomatic strabismus +MONDO:0012853 Fontaine progeroid syndrome MONDO:0043008 Orphanet:2095 Orphanet:330206 obsolete genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability +MONDO:0012853 Fontaine progeroid syndrome MONDO:8000032 Orphanet:2095 Orphanet:377789 obsolete malformation syndrome +MONDO:0012853 Fontaine progeroid syndrome MONDO:8000032 Orphanet:2963 Orphanet:377789 obsolete malformation syndrome +MONDO:0012854 bilateral microtia-deafness-cleft palate syndrome MONDO:0015335 Orphanet:140963 Orphanet:139039 obsolete Mendelian syndromes with cleft lip/palate +MONDO:0012854 bilateral microtia-deafness-cleft palate syndrome MONDO:0019589 Orphanet:140963 Orphanet:90642 obsolete syndromic genetic hearing loss +MONDO:0012854 bilateral microtia-deafness-cleft palate syndrome MONDO:8000032 Orphanet:140963 Orphanet:377789 obsolete malformation syndrome +MONDO:0012856 Birk-Barel syndrome MONDO:0035862 Orphanet:166108 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome +MONDO:0012858 primary CD59 deficiency MONDO:0018727 Orphanet:169464 Orphanet:459348 obsolete immunodeficiency due to a complement regulatory deficiency +MONDO:0012858 primary CD59 deficiency MONDO:0020101 Orphanet:169464 Orphanet:98364 obsolete constitutional hemolytic anemia due to membrane defect +MONDO:0012859 autosomal recessive osteopetrosis 7 MONDO:0018041 Orphanet:178389 Orphanet:331244 obsolete other immunodeficiency syndrome with predominantly antibody defects +MONDO:0012864 chromosome 2q32-q33 deletion syndrome MONDO:0035863 Orphanet:251019 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0012864 chromosome 2q32-q33 deletion syndrome MONDO:8000031 Orphanet:576283 Orphanet:557494 obsolete subtype of a disorder +MONDO:0012864 chromosome 2q32-q33 deletion syndrome MONDO:8000032 Orphanet:251019 Orphanet:377789 obsolete malformation syndrome +MONDO:0012866 hereditary spastic paraplegia 35 MONDO:0015089 Orphanet:171629 Orphanet:100981 obsolete autosomal recessive complex spastic paraplegia +MONDO:0012868 thrombophilia due to protein S deficiency, autosomal dominant MONDO:0016634 Orphanet:26349 Orphanet:248365 obsolete thrombotic disorder due to an acquired coagulation factors defect +MONDO:0012873 Ehlers-Danlos syndrome, spondylocheirodysplastic type MONDO:8000031 Orphanet:157965 Orphanet:557494 obsolete subtype of a disorder +MONDO:0012883 acute promyelocytic leukemia MONDO:0020078 Orphanet:520 Orphanet:98277 obsolete acute myeloid leukemia with recurrent genetic anomaly +MONDO:0012885 SRD5A3-congenital disorder of glycosylation MONDO:0018284 Orphanet:324737 Orphanet:371047 obsolete congenital disorder of glycosylation with neurological involvement +MONDO:0012885 SRD5A3-congenital disorder of glycosylation MONDO:0018293 Orphanet:324737 Orphanet:371200 obsolete congenital disorder of glycosylation with skin involvement +MONDO:0012885 SRD5A3-congenital disorder of glycosylation MONDO:0035862 Orphanet:324737 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome +MONDO:0012892 bone fragility with contractures, arterial rupture, and deafness MONDO:0015332 Orphanet:300284 Orphanet:139030 obsolete rare developmental defect with connective tissue involvement +MONDO:0012892 bone fragility with contractures, arterial rupture, and deafness MONDO:0019589 Orphanet:300284 Orphanet:90642 obsolete syndromic genetic hearing loss +MONDO:0012897 congenital factor XI deficiency MONDO:0019039 Orphanet:329 Orphanet:68334 obsolete rare hemorrhagic disorder due to a constitutional coagulation factors defect +MONDO:0012901 inherited prekallikrein deficiency MONDO:0019039 Orphanet:749 Orphanet:68334 obsolete rare hemorrhagic disorder due to a constitutional coagulation factors defect +MONDO:0012907 blindness - scoliosis - arachnodactyly syndrome MONDO:0015332 Orphanet:171844 Orphanet:139030 obsolete rare developmental defect with connective tissue involvement +MONDO:0012907 blindness - scoliosis - arachnodactyly syndrome MONDO:0034937 Orphanet:171844 Orphanet:519292 obsolete syndromic ectopia lentis +MONDO:0012907 blindness - scoliosis - arachnodactyly syndrome MONDO:0034953 Orphanet:171844 Orphanet:519325 obsolete syndromic inherited retinal disorder +MONDO:0012907 blindness - scoliosis - arachnodactyly syndrome MONDO:8000032 Orphanet:171844 Orphanet:377789 obsolete malformation syndrome +MONDO:0012911 pseudohypoparathyroidism type 1C MONDO:0018699 Orphanet:79444 Orphanet:457059 obsolete pseudohypoparathyroidism with Albright hereditary osteodystrophy +MONDO:0012912 pseudopseudohypoparathyroidism MONDO:0018699 Orphanet:79445 Orphanet:457059 obsolete pseudohypoparathyroidism with Albright hereditary osteodystrophy +MONDO:0012914 chromosome 1q21.1 deletion syndrome MONDO:8000032 Orphanet:250989 Orphanet:377789 obsolete malformation syndrome +MONDO:0012915 chromosome 1q21.1 duplication syndrome MONDO:8000032 Orphanet:250994 Orphanet:377789 obsolete malformation syndrome +MONDO:0012916 chromosome 2p16.1-p15 deletion syndrome MONDO:8000032 Orphanet:261349 Orphanet:377789 obsolete malformation syndrome +MONDO:0012927 chromosome 1q41-q42 deletion syndrome MONDO:8000032 Orphanet:250999 Orphanet:377789 obsolete malformation syndrome +MONDO:0012928 hereditary spastic paraplegia 42 MONDO:0015088 Orphanet:171863 Orphanet:100980 obsolete autosomal dominant pure spastic paraplegia +MONDO:0012948 chromosome 6pter-p24 deletion syndrome MONDO:0020222 Orphanet:96125 Orphanet:98638 obsolete rare disease with glaucoma as a major feature +MONDO:0012948 chromosome 6pter-p24 deletion syndrome MONDO:0035863 Orphanet:96125 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0012948 chromosome 6pter-p24 deletion syndrome MONDO:8000032 Orphanet:96125 Orphanet:377789 obsolete malformation syndrome +MONDO:0012964 chromosome 15q26-qter deletion syndrome MONDO:8000032 Orphanet:1596 Orphanet:377789 obsolete malformation syndrome +MONDO:0012967 hemolytic anemia due to adenylate kinase deficiency MONDO:0020107 Orphanet:86817 Orphanet:98374 obsolete hemolytic anemia due to an erythrocyte nucleotide metabolism disorder +MONDO:0012980 endocrine-cerebro-osteodysplasia syndrome MONDO:0018236 Orphanet:199332 Orphanet:364571 obsolete dysostosis with limb and face anomalies as a major feature +MONDO:0012980 endocrine-cerebro-osteodysplasia syndrome MONDO:0018731 Orphanet:199332 Orphanet:459787 obsolete lethal multiple congenital anomalies/dysmorphic syndrome +MONDO:0012980 endocrine-cerebro-osteodysplasia syndrome MONDO:0020999 Orphanet:199332 Orphanet:101960 obsolete genetic chronic primary adrenal insufficiency +MONDO:0012980 endocrine-cerebro-osteodysplasia syndrome MONDO:8000032 Orphanet:199332 Orphanet:377789 obsolete malformation syndrome +MONDO:0012984 PHARC syndrome MONDO:0016132 Orphanet:171848 Orphanet:207015 obsolete rare hereditary disease with peripheral neuropathy +MONDO:0012984 PHARC syndrome MONDO:0018119 Orphanet:171848 Orphanet:352309 obsolete disorder of phospholipids, sphingolipids and fatty acids biosynthesis with peripheral nerves predominant involvement +MONDO:0012984 PHARC syndrome MONDO:0019589 Orphanet:171848 Orphanet:90642 obsolete syndromic genetic hearing loss +MONDO:0012984 PHARC syndrome MONDO:0020240 Orphanet:171848 Orphanet:98661 obsolete syndromic retinitis pigmentosa +MONDO:0012986 bilateral parasagittal parieto-occipital polymicrogyria MONDO:8000031 Orphanet:208441 Orphanet:557494 obsolete subtype of a disorder +MONDO:0012992 pancreatic insufficiency-anemia-hyperostosis syndrome MONDO:0015112 Orphanet:199337 Orphanet:101937 obsolete rare pancreatic disease +MONDO:0012992 pancreatic insufficiency-anemia-hyperostosis syndrome MONDO:0015618 Orphanet:199337 Orphanet:165661 obsolete genetic pancreatic disease +MONDO:0012992 pancreatic insufficiency-anemia-hyperostosis syndrome MONDO:0016578 Orphanet:199337 Orphanet:2443 obsolete mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies +MONDO:0012992 pancreatic insufficiency-anemia-hyperostosis syndrome MONDO:0017397 Orphanet:199337 Orphanet:293830 obsolete constitutional dyserythropoietic anemia +MONDO:0012994 dopa-responsive dystonia due to sepiapterin reductase deficiency MONDO:0035862 Orphanet:70594 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome +MONDO:0012996 AGAT deficiency MONDO:0019058 Orphanet:35704 Orphanet:68385 obsolete neurometabolic disease +MONDO:0012997 cholestasis-pigmentary retinopathy-cleft palate syndrome MONDO:0015335 Orphanet:1415 Orphanet:139039 obsolete Mendelian syndromes with cleft lip/palate +MONDO:0012997 cholestasis-pigmentary retinopathy-cleft palate syndrome MONDO:0020240 Orphanet:1415 Orphanet:98661 obsolete syndromic retinitis pigmentosa +MONDO:0012997 cholestasis-pigmentary retinopathy-cleft palate syndrome MONDO:8000032 Orphanet:1415 Orphanet:377789 obsolete malformation syndrome +MONDO:0012999 guanidinoacetate methyltransferase deficiency MONDO:0019058 Orphanet:382 Orphanet:68385 obsolete neurometabolic disease +MONDO:0012999 guanidinoacetate methyltransferase deficiency MONDO:0035862 Orphanet:382 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome +MONDO:0013003 isolated congenital hypoglossia/aglossia MONDO:0015497 Orphanet:141152 Orphanet:156212 obsolete hypoglossia/aglossia +MONDO:0013003 isolated congenital hypoglossia/aglossia MONDO:8000030 Orphanet:141152 Orphanet:377791 obsolete morphological anomaly +MONDO:0013005 EAST syndrome MONDO:0015922 Orphanet:199343 Orphanet:182083 obsolete channelopathy with epilepsy +MONDO:0013005 EAST syndrome MONDO:0019589 Orphanet:199343 Orphanet:90642 obsolete syndromic genetic hearing loss +MONDO:0013005 EAST syndrome MONDO:0019744 Orphanet:199343 Orphanet:93603 obsolete rare renal tubular disease +MONDO:0013005 EAST syndrome MONDO:0035862 Orphanet:199343 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome +MONDO:0013006 isolated growth hormone deficiency type IB MONDO:8000031 Orphanet:231671 Orphanet:557494 obsolete subtype of a disorder +MONDO:0013007 combined immunodeficiency due to ORAI1 deficiency MONDO:8000031 Orphanet:317428 Orphanet:557494 obsolete subtype of a disorder +MONDO:0013008 combined immunodeficiency due to STIM1 deficiency MONDO:8000031 Orphanet:317430 Orphanet:557494 obsolete subtype of a disorder +MONDO:0013014 spondyloepimetaphyseal dysplasia, aggrecan type MONDO:0018239 Orphanet:171866 Orphanet:364817 obsolete aggrecan-related bone disorder +MONDO:0013016 leukocyte adhesion deficiency 3 MONDO:8000031 Orphanet:99844 Orphanet:557494 obsolete subtype of a disorder +MONDO:0013021 sterile multifocal osteomyelitis with periostitis and pustulosis MONDO:0017369 Orphanet:210115 Orphanet:290839 obsolete autoinflammatory syndrome with immune deficiency +MONDO:0013021 sterile multifocal osteomyelitis with periostitis and pustulosis MONDO:0017370 Orphanet:210115 Orphanet:290842 obsolete autoinflammatory syndrome with skin involvement +MONDO:0013021 sterile multifocal osteomyelitis with periostitis and pustulosis MONDO:0017954 Orphanet:210115 Orphanet:324927 obsolete pyogenic autoinflammatory syndrome +MONDO:0013021 sterile multifocal osteomyelitis with periostitis and pustulosis MONDO:0800092 Orphanet:210115 Orphanet:498445 obsolete hereditary inflammatory or rheumatoid-like osteoarthropathy +MONDO:0013021 sterile multifocal osteomyelitis with periostitis and pustulosis MONDO:0957404 Orphanet:210115 Orphanet:324942 obsolete pyogenic autoinflammatory syndrome of childhood +MONDO:0013024 chronic thromboembolic pulmonary hypertension MONDO:0019096 Orphanet:70591 Orphanet:71198 obsolete rare pulmonary hypertension +MONDO:0013025 chromosome 6q24-q25 deletion syndrome MONDO:8000032 Orphanet:251056 Orphanet:377789 obsolete malformation syndrome +MONDO:0013028 adenosine monophosphate deaminase deficiency MONDO:0019058 Orphanet:45 Orphanet:68385 obsolete neurometabolic disease +MONDO:0013035 orofaciodigital syndrome XI MONDO:8000032 Orphanet:141000 Orphanet:377789 obsolete malformation syndrome +MONDO:0013036 Zechi-Ceide syndrome MONDO:0035863 Orphanet:217017 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0013036 Zechi-Ceide syndrome MONDO:8000032 Orphanet:217017 Orphanet:377789 obsolete malformation syndrome +MONDO:0013038 CLOVES syndrome MONDO:0015949 Orphanet:140944 Orphanet:183484 obsolete rare genetic subcutaneous tissue disorder +MONDO:0013038 CLOVES syndrome MONDO:0016235 Orphanet:140944 Orphanet:211277 obsolete complex vascular malformation with associated anomalies +MONDO:0013038 CLOVES syndrome MONDO:0017414 Orphanet:140944 Orphanet:294057 obsolete rare nevus +MONDO:0013038 CLOVES syndrome MONDO:0033927 Orphanet:140944 Orphanet:459537 obsolete genetic complex vascular malformation with associated anomalies +MONDO:0013038 CLOVES syndrome MONDO:0035162 Orphanet:140944 Orphanet:530313 obsolete PIK3CA-related overgrowth syndrome +MONDO:0013038 CLOVES syndrome MONDO:0800091 Orphanet:140944 Orphanet:498448 obsolete overgrowth or tall stature syndrome with skeletal involvement +MONDO:0013038 CLOVES syndrome MONDO:8000032 Orphanet:140944 Orphanet:377789 obsolete malformation syndrome +MONDO:0013046 glycogen storage disease due to muscle beta-enolase deficiency MONDO:0016118 Orphanet:99849 Orphanet:206959 obsolete muscular glycogenosis +MONDO:0013047 glycogen storage disease due to lactate dehydrogenase M-subunit deficiency MONDO:0016118 Orphanet:284426 Orphanet:206959 obsolete muscular glycogenosis +MONDO:0013047 glycogen storage disease due to lactate dehydrogenase M-subunit deficiency MONDO:8000031 Orphanet:284426 Orphanet:557494 obsolete subtype of a disorder +MONDO:0013049 DPM3-congenital disorder of glycosylation MONDO:0018284 Orphanet:263494 Orphanet:371047 obsolete congenital disorder of glycosylation with neurological involvement +MONDO:0013049 DPM3-congenital disorder of glycosylation MONDO:0018289 Orphanet:263494 Orphanet:371176 obsolete congenital disorder of glycosylation with dilated cardiomyopathy +MONDO:0013049 DPM3-congenital disorder of glycosylation MONDO:0035862 Orphanet:263494 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome +MONDO:0013050 lethal polymalformative syndrome, Boissel type MONDO:0018731 Orphanet:210144 Orphanet:459787 obsolete lethal multiple congenital anomalies/dysmorphic syndrome +MONDO:0013050 lethal polymalformative syndrome, Boissel type MONDO:8000032 Orphanet:210144 Orphanet:377789 obsolete malformation syndrome +MONDO:0013053 microcephaly-facio-cardio-skeletal syndrome, Hadziselimovic type MONDO:0015329 Orphanet:217026 Orphanet:139021 obsolete malformation syndrome with short stature +MONDO:0013053 microcephaly-facio-cardio-skeletal syndrome, Hadziselimovic type MONDO:0015506 Orphanet:217026 Orphanet:156532 obsolete rare syndrome with cardiac malformations +MONDO:0013053 microcephaly-facio-cardio-skeletal syndrome, Hadziselimovic type MONDO:0026187 Orphanet:217026 Orphanet:183570 obsolete genetic malformation syndrome with short stature +MONDO:0013053 microcephaly-facio-cardio-skeletal syndrome, Hadziselimovic type MONDO:0043008 Orphanet:217026 Orphanet:330206 obsolete genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability +MONDO:0013053 microcephaly-facio-cardio-skeletal syndrome, Hadziselimovic type MONDO:8000032 Orphanet:217026 Orphanet:377789 obsolete malformation syndrome +MONDO:0013060 autosomal recessive Parkinson disease 14 MONDO:0017635 Orphanet:199351 Orphanet:306666 obsolete parkinsonian syndrome due to neurodegenerative disease +MONDO:0013060 autosomal recessive Parkinson disease 14 MONDO:0017661 Orphanet:199351 Orphanet:307055 obsolete rare parkinsonian syndrome due to genetic neurodegenerative disease +MONDO:0013060 autosomal recessive Parkinson disease 14 MONDO:0018329 Orphanet:199351 Orphanet:391711 obsolete persistent combined dystonia +MONDO:0013069 autosomal recessive optic atrophy, OPA7 type MONDO:0016799 Orphanet:227976 Orphanet:254822 obsolete mitochondrial oxidative phosphorylation disorder with no known mechanism +MONDO:0013069 autosomal recessive optic atrophy, OPA7 type MONDO:0018609 Orphanet:227976 Orphanet:441434 obsolete syndromic hereditary optic neuropathy +MONDO:0013074 encephalocraniocutaneous lipomatosis MONDO:0015949 Orphanet:2396 Orphanet:183484 obsolete rare genetic subcutaneous tissue disorder +MONDO:0013074 encephalocraniocutaneous lipomatosis MONDO:0015950 Orphanet:2396 Orphanet:183487 obsolete inherited skin tumor +MONDO:0013082 Hirschsprung disease-ganglioneuroblastoma syndrome MONDO:0015184 Orphanet:2151 Orphanet:104009 obsolete rare disease involving intestinal motility +MONDO:0013082 Hirschsprung disease-ganglioneuroblastoma syndrome MONDO:8000032 Orphanet:2151 Orphanet:377789 obsolete malformation syndrome +MONDO:0013090 chromosome 19q13.11 deletion syndrome MONDO:0035863 Orphanet:217346 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0013090 chromosome 19q13.11 deletion syndrome MONDO:8000032 Orphanet:217346 Orphanet:377789 obsolete malformation syndrome +MONDO:0013099 combined pituitary hormone deficiencies, genetic form MONDO:0015789 Orphanet:95494 Orphanet:178025 obsolete non-acquired combined pituitary hormone deficiencies without extra-pituitary malformations +MONDO:0013099 combined pituitary hormone deficiencies, genetic form MONDO:0015891 Orphanet:95494 Orphanet:181390 obsolete hypogonadotropic hypogonadism associated with other endocrinopathies +MONDO:0013110 neurodegenerative syndrome due to cerebral folate transport deficiency MONDO:0015918 Orphanet:217382 Orphanet:182070 obsolete rare neurodegenerative disease +MONDO:0013110 neurodegenerative syndrome due to cerebral folate transport deficiency MONDO:0016406 Orphanet:217382 Orphanet:225713 obsolete other metabolic disease with epilepsy +MONDO:0013110 neurodegenerative syndrome due to cerebral folate transport deficiency MONDO:0019058 Orphanet:217382 Orphanet:68385 obsolete neurometabolic disease +MONDO:0013111 acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins MONDO:0015114 Orphanet:217371 Orphanet:101939 obsolete rare parenchymal liver disease +MONDO:0013111 acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins MONDO:0015115 Orphanet:217371 Orphanet:101940 obsolete rare genetic metabolic liver disease +MONDO:0013111 acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins MONDO:0015508 Orphanet:217371 Orphanet:156604 obsolete hereditary parenchymatous liver disease +MONDO:0013111 acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins MONDO:0018157 Orphanet:217371 Orphanet:35696 obsolete mitochondrial disorder due to a defect in mitochondrial protein synthesis +MONDO:0013115 RIN2 syndrome MONDO:0035863 Orphanet:217335 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0013115 RIN2 syndrome MONDO:8000032 Orphanet:217335 Orphanet:377789 obsolete malformation syndrome +MONDO:0013116 congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome MONDO:0016578 Orphanet:330054 Orphanet:2443 obsolete mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies +MONDO:0013116 congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome MONDO:0019589 Orphanet:330054 Orphanet:90642 obsolete syndromic genetic hearing loss +MONDO:0013116 congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome MONDO:0020225 Orphanet:330054 Orphanet:98641 obsolete syndromic cataract +MONDO:0013116 congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome MONDO:0035862 Orphanet:330054 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome +MONDO:0013118 Nijmegen breakage syndrome-like disorder MONDO:0015707 Orphanet:240760 Orphanet:169346 obsolete DNA repair defect other than combined T-cell and B-cell immunodeficiencies +MONDO:0013118 Nijmegen breakage syndrome-like disorder MONDO:0015945 Orphanet:240760 Orphanet:183422 obsolete polymalformative genetic syndrome with increased risk of developing cancer +MONDO:0013118 Nijmegen breakage syndrome-like disorder MONDO:0043008 Orphanet:240760 Orphanet:330206 obsolete genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability +MONDO:0013118 Nijmegen breakage syndrome-like disorder MONDO:8000032 Orphanet:240760 Orphanet:377789 obsolete malformation syndrome +MONDO:0013125 CLAPO syndrome MONDO:0016235 Orphanet:168984 Orphanet:211277 obsolete complex vascular malformation with associated anomalies +MONDO:0013125 CLAPO syndrome MONDO:0035162 Orphanet:168984 Orphanet:530313 obsolete PIK3CA-related overgrowth syndrome +MONDO:0013125 CLAPO syndrome MONDO:8000032 Orphanet:168984 Orphanet:377789 obsolete malformation syndrome +MONDO:0013127 asphyxiating thoracic dystrophy 3 MONDO:0015246 Orphanet:93270 Orphanet:117573 obsolete syndromic anorectal malformation +MONDO:0013127 asphyxiating thoracic dystrophy 3 MONDO:0015246 Orphanet:93271 Orphanet:117573 obsolete syndromic anorectal malformation +MONDO:0013127 asphyxiating thoracic dystrophy 3 MONDO:8000032 Orphanet:93270 Orphanet:377789 obsolete malformation syndrome +MONDO:0013127 asphyxiating thoracic dystrophy 3 MONDO:8000032 Orphanet:93271 Orphanet:377789 obsolete malformation syndrome +MONDO:0013128 familial juvenile hyperuricemic nephropathy type 2 MONDO:8000031 Orphanet:217330 Orphanet:557494 obsolete subtype of a disorder +MONDO:0013136 hereditary hypotrichosis with recurrent skin vesicles MONDO:0021034 Orphanet:217407 Orphanet:481771 obsolete hereditary alopecia +MONDO:0013143 hereditary thrombophilia due to congenital histidine-rich (poly-L) glycoprotein deficiency MONDO:0016320 Orphanet:217467 Orphanet:217454 obsolete rare hereditary thrombophilia +MONDO:0013144 hereditary antithrombin deficiency MONDO:0016320 Orphanet:82 Orphanet:217454 obsolete rare hereditary thrombophilia +MONDO:0013144 hereditary antithrombin deficiency MONDO:0027751 Orphanet:82 Orphanet:250811 obsolete serpinopathy with loss of serpin function +MONDO:0013150 parkinsonism-dystonia, infantile MONDO:0017635 Orphanet:238455 Orphanet:306666 obsolete parkinsonian syndrome due to neurodegenerative disease +MONDO:0013150 parkinsonism-dystonia, infantile MONDO:0017661 Orphanet:238455 Orphanet:307055 obsolete rare parkinsonian syndrome due to genetic neurodegenerative disease +MONDO:0013150 parkinsonism-dystonia, infantile MONDO:0018329 Orphanet:238455 Orphanet:391711 obsolete persistent combined dystonia +MONDO:0013150 parkinsonism-dystonia, infantile MONDO:0035862 Orphanet:238455 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome +MONDO:0013161 autosomal recessive limb-girdle muscular dystrophy type 2O MONDO:0016182 Orphanet:206564 Orphanet:209024 obsolete qualitative or quantitative defects of protein O-mannose beta1, 2N-acetylglucosaminyltransferase +MONDO:0013161 autosomal recessive limb-girdle muscular dystrophy type 2O MONDO:0017745 Orphanet:206564 Orphanet:309469 obsolete disorder of O-mannosylglycan synthesis +MONDO:0013161 autosomal recessive limb-girdle muscular dystrophy type 2O MONDO:0018284 Orphanet:206564 Orphanet:371047 obsolete congenital disorder of glycosylation with neurological involvement +MONDO:0013162 autosomal recessive limb-girdle muscular dystrophy type 2N MONDO:0017745 Orphanet:206559 Orphanet:309469 obsolete disorder of O-mannosylglycan synthesis +MONDO:0013162 autosomal recessive limb-girdle muscular dystrophy type 2N MONDO:0018284 Orphanet:206559 Orphanet:371047 obsolete congenital disorder of glycosylation with neurological involvement +MONDO:0013162 autosomal recessive limb-girdle muscular dystrophy type 2N MONDO:0035862 Orphanet:206559 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome +MONDO:0013164 beta-ureidopropionase deficiency MONDO:0016404 Orphanet:65287 Orphanet:225707 obsolete metabolic neurotransmission anomaly with epilepsy +MONDO:0013164 beta-ureidopropionase deficiency MONDO:0019058 Orphanet:65287 Orphanet:68385 obsolete neurometabolic disease +MONDO:0013165 hereditary spastic paraplegia 45 MONDO:0017915 Orphanet:320396 Orphanet:320346 obsolete pure or complex autosomal recessive spastic paraplegia +MONDO:0013165 hereditary spastic paraplegia 45 MONDO:0035862 Orphanet:320396 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome +MONDO:0013166 GABA aminotransaminase deficiency MONDO:0016404 Orphanet:2066 Orphanet:225707 obsolete metabolic neurotransmission anomaly with epilepsy +MONDO:0013166 GABA aminotransaminase deficiency MONDO:0019058 Orphanet:2066 Orphanet:68385 obsolete neurometabolic disease +MONDO:0013166 GABA aminotransaminase deficiency MONDO:0019224 Orphanet:2066 Orphanet:79175 obsolete inborn disorder of gamma-aminobutyric acid metabolism +MONDO:0013169 chromosome 5p13 duplication syndrome MONDO:0035863 Orphanet:329802 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0013169 chromosome 5p13 duplication syndrome MONDO:8000032 Orphanet:329802 Orphanet:377789 obsolete malformation syndrome +MONDO:0013170 cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies MONDO:8000032 Orphanet:221145 Orphanet:377789 obsolete malformation syndrome +MONDO:0013171 purine nucleoside phosphorylase deficiency MONDO:0035862 Orphanet:760 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome +MONDO:0013172 polymicrogyria with optic nerve hypoplasia MONDO:0015310 Orphanet:250972 Orphanet:137905 obsolete syndromic optic nerve hypoplasia +MONDO:0013172 polymicrogyria with optic nerve hypoplasia MONDO:0015655 Orphanet:250972 Orphanet:166478 obsolete cerebral malformation with epilepsy +MONDO:0013172 polymicrogyria with optic nerve hypoplasia MONDO:0017120 Orphanet:250972 Orphanet:269531 obsolete other syndrome with a central nervous system malformation as major feature +MONDO:0013172 polymicrogyria with optic nerve hypoplasia MONDO:0035863 Orphanet:250972 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0013172 polymicrogyria with optic nerve hypoplasia MONDO:8000032 Orphanet:250972 Orphanet:377789 obsolete malformation syndrome +MONDO:0013176 Weill-Marchesani 4 syndrome, recessive MONDO:0015331 Orphanet:363992 Orphanet:139027 obsolete malformation syndrome with skin/mucosae involvement +MONDO:0013176 Weill-Marchesani 4 syndrome, recessive MONDO:0029102 Orphanet:363992 Orphanet:281244 obsolete autosomal ichthyosis syndrome with other associated signs +MONDO:0013177 congenital muscular dystrophy due to integrin alpha-7 deficiency MONDO:0016150 Orphanet:34520 Orphanet:207098 obsolete qualitative or quantitative defects of integrin alpha-7 +MONDO:0013178 congenital muscular dystrophy due to LMNA mutation MONDO:0029810 Orphanet:157973 Orphanet:300755 obsolete laminopathy with striated muscle involvement +MONDO:0013179 hereditary spastic paraplegia 44 MONDO:0015089 Orphanet:320401 Orphanet:100981 obsolete autosomal recessive complex spastic paraplegia +MONDO:0013182 chromosome 17p13.3 duplication syndrome MONDO:0035863 Orphanet:217385 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0013182 chromosome 17p13.3 duplication syndrome MONDO:8000032 Orphanet:217385 Orphanet:377789 obsolete malformation syndrome +MONDO:0013184 congenital diarrhea 5 with tufting enteropathy MONDO:0015182 Orphanet:92050 Orphanet:104007 obsolete congenital enteropathy involving intestinal mucosa development +MONDO:0013184 congenital diarrhea 5 with tufting enteropathy MONDO:0019126 Orphanet:92050 Orphanet:73014 obsolete intractable diarrhea of infancy +MONDO:0013184 congenital diarrhea 5 with tufting enteropathy MONDO:0031697 Orphanet:92050 Orphanet:363300 obsolete genetic intractable diarrhea of infancy +MONDO:0013208 cirrhosis - dystonia - polycythemia - hypermanganesemia syndrome MONDO:0015115 Orphanet:309854 Orphanet:101940 obsolete rare genetic metabolic liver disease +MONDO:0013208 cirrhosis - dystonia - polycythemia - hypermanganesemia syndrome MONDO:0017635 Orphanet:309854 Orphanet:306666 obsolete parkinsonian syndrome due to neurodegenerative disease +MONDO:0013208 cirrhosis - dystonia - polycythemia - hypermanganesemia syndrome MONDO:0017661 Orphanet:309854 Orphanet:307055 obsolete rare parkinsonian syndrome due to genetic neurodegenerative disease +MONDO:0013222 Miyoshi muscular dystrophy 3 MONDO:0016109 Orphanet:399096 Orphanet:206653 obsolete autosomal recessive distal myopathy +MONDO:0013223 autosomal recessive spondylometaphyseal dysplasia, Megarbane type MONDO:8000032 Orphanet:401979 Orphanet:377789 obsolete malformation syndrome +MONDO:0013226 combined immunodeficiency with faciooculoskeletal anomalies MONDO:0017432 Orphanet:221139 Orphanet:294955 obsolete syndrome with limb reduction defects +MONDO:0013226 combined immunodeficiency with faciooculoskeletal anomalies MONDO:0035863 Orphanet:221139 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0013227 congenital plasminogen activator inhibitor type 1 deficiency MONDO:0019039 Orphanet:465 Orphanet:68334 obsolete rare hemorrhagic disorder due to a constitutional coagulation factors defect +MONDO:0013227 congenital plasminogen activator inhibitor type 1 deficiency MONDO:0027750 Orphanet:465 Orphanet:250808 obsolete serpinopathy with toxic serpin polymerization +MONDO:0013238 chromosome 17q23.1-q23.2 deletion syndrome MONDO:8000032 Orphanet:261279 Orphanet:377789 obsolete malformation syndrome +MONDO:0013239 hereditary spastic paraplegia 41 MONDO:0015088 Orphanet:320355 Orphanet:100980 obsolete autosomal dominant pure spastic paraplegia +MONDO:0013245 syndromic multisystem autoimmune disease due to ITCH deficiency MONDO:0015118 Orphanet:228426 Orphanet:101944 obsolete rare pulmonary disease +MONDO:0013245 syndromic multisystem autoimmune disease due to ITCH deficiency MONDO:0015510 Orphanet:228426 Orphanet:156610 obsolete rare genetic respiratory disease +MONDO:0013245 syndromic multisystem autoimmune disease due to ITCH deficiency MONDO:0015709 Orphanet:228426 Orphanet:169355 obsolete immunodeficiency syndrome with autoimmunity +MONDO:0013245 syndromic multisystem autoimmune disease due to ITCH deficiency MONDO:0015939 Orphanet:228426 Orphanet:182228 obsolete systemic autoimmune disease +MONDO:0013245 syndromic multisystem autoimmune disease due to ITCH deficiency MONDO:0035863 Orphanet:228426 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0013252 Warsaw breakage syndrome MONDO:0015945 Orphanet:280558 Orphanet:183422 obsolete polymalformative genetic syndrome with increased risk of developing cancer +MONDO:0013252 Warsaw breakage syndrome MONDO:0043008 Orphanet:280558 Orphanet:330206 obsolete genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability +MONDO:0013252 Warsaw breakage syndrome MONDO:8000032 Orphanet:280558 Orphanet:377789 obsolete malformation syndrome +MONDO:0013256 chromosome 15q24 deletion syndrome MONDO:8000031 Orphanet:94065 Orphanet:557494 obsolete subtype of a disorder +MONDO:0013267 distal 16p11.2 microdeletion syndrome MONDO:0016565 Orphanet:261222 Orphanet:240371 obsolete syndromic genetic obesity +MONDO:0013267 distal 16p11.2 microdeletion syndrome MONDO:8000032 Orphanet:261222 Orphanet:377789 obsolete malformation syndrome +MONDO:0013268 frontonasal dysplasia with alopecia and genital anomaly MONDO:0020253 Orphanet:228390 Orphanet:98683 obsolete syndrome with a symptomatic strabismus +MONDO:0013268 frontonasal dysplasia with alopecia and genital anomaly MONDO:0021034 Orphanet:228390 Orphanet:481771 obsolete hereditary alopecia +MONDO:0013268 frontonasal dysplasia with alopecia and genital anomaly MONDO:0035863 Orphanet:228390 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0013268 frontonasal dysplasia with alopecia and genital anomaly MONDO:8000032 Orphanet:228390 Orphanet:377789 obsolete malformation syndrome +MONDO:0013271 frontonasal dysplasia - severe microphthalmia - severe facial clefting syndrome MONDO:0015334 Orphanet:306542 Orphanet:139036 obsolete branchial arch or oral-acral syndrome +MONDO:0013271 frontonasal dysplasia - severe microphthalmia - severe facial clefting syndrome MONDO:0015335 Orphanet:306542 Orphanet:139039 obsolete Mendelian syndromes with cleft lip/palate +MONDO:0013271 frontonasal dysplasia - severe microphthalmia - severe facial clefting syndrome MONDO:0026189 Orphanet:306542 Orphanet:183576 obsolete genetic branchial arch or oral-acral syndrome +MONDO:0013271 frontonasal dysplasia - severe microphthalmia - severe facial clefting syndrome MONDO:8000032 Orphanet:306542 Orphanet:377789 obsolete malformation syndrome +MONDO:0013272 chromosome 14q11-q22 deletion syndrome MONDO:8000032 Orphanet:261120 Orphanet:377789 obsolete malformation syndrome +MONDO:0013273 chromosome 16p13.3 duplication syndrome MONDO:8000032 Orphanet:96078 Orphanet:377789 obsolete malformation syndrome +MONDO:0013275 hemolytic anemia due to glucophosphate isomerase deficiency MONDO:0020106 Orphanet:712 Orphanet:98372 obsolete hemolytic anemia due to a disorder of glycolytic enzymes +MONDO:0013276 Reynolds syndrome MONDO:0015116 Orphanet:779 Orphanet:101941 obsolete rare biliary tract disease +MONDO:0013276 Reynolds syndrome MONDO:0015939 Orphanet:779 Orphanet:182228 obsolete systemic autoimmune disease +MONDO:0013276 Reynolds syndrome MONDO:0017368 Orphanet:779 Orphanet:290836 obsolete systemic disease with skin involvement +MONDO:0013281 COG4-congenital disorder of glycosylation MONDO:0018287 Orphanet:263501 Orphanet:371071 obsolete congenital disorder of glycosylation with epilepsy as a major feature +MONDO:0013281 COG4-congenital disorder of glycosylation MONDO:0018288 Orphanet:263501 Orphanet:371157 obsolete congenital disorder of glycosylation with hepatic involvement +MONDO:0013281 COG4-congenital disorder of glycosylation MONDO:0035862 Orphanet:263501 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome +MONDO:0013282 alpha 1-antitrypsin deficiency MONDO:0015115 Orphanet:60 Orphanet:101940 obsolete rare genetic metabolic liver disease +MONDO:0013282 alpha 1-antitrypsin deficiency MONDO:0015118 Orphanet:60 Orphanet:101944 obsolete rare pulmonary disease +MONDO:0013282 alpha 1-antitrypsin deficiency MONDO:0015510 Orphanet:60 Orphanet:156610 obsolete rare genetic respiratory disease +MONDO:0013282 alpha 1-antitrypsin deficiency MONDO:0019602 Orphanet:60 Orphanet:91088 obsolete other inborn metabolic disease +MONDO:0013282 alpha 1-antitrypsin deficiency MONDO:0019743 Orphanet:60 Orphanet:93593 obsolete nephropathy secondary to a storage or other metabolic disease +MONDO:0013282 alpha 1-antitrypsin deficiency MONDO:0027750 Orphanet:60 Orphanet:250808 obsolete serpinopathy with toxic serpin polymerization +MONDO:0013291 glycogen storage disease XV MONDO:0016118 Orphanet:263297 Orphanet:206959 obsolete muscular glycogenosis +MONDO:0013292 chromosome 4q21 deletion syndrome MONDO:8000032 Orphanet:238750 Orphanet:377789 obsolete malformation syndrome +MONDO:0013298 chromosome 17q21.31 duplication syndrome MONDO:0035863 Orphanet:217340 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0013298 chromosome 17q21.31 duplication syndrome MONDO:8000032 Orphanet:217340 Orphanet:377789 obsolete malformation syndrome +MONDO:0013300 commissural facial cleft MONDO:0015418 Orphanet:141276 Orphanet:141269 obsolete lateral facial cleft +MONDO:0013300 commissural facial cleft MONDO:8000030 Orphanet:141276 Orphanet:377791 obsolete morphological anomaly +MONDO:0013301 aromatase deficiency MONDO:0015582 Orphanet:91 Orphanet:163637 obsolete rare disorder related with pregnancy, childbirth and puerperium +MONDO:0013301 aromatase deficiency MONDO:0017962 Orphanet:91 Orphanet:325061 obsolete 46,XX disorder of sex development induced by fetoplacental androgens excess +MONDO:0013301 aromatase deficiency MONDO:0018386 Orphanet:91 Orphanet:399572 obsolete rare male infertility due to hypothalamic-pituitary-gonadal axis disorder +MONDO:0013301 aromatase deficiency MONDO:0018397 Orphanet:91 Orphanet:399831 obsolete female infertility due to hypothalamic-pituitary-gonadal axis disorder +MONDO:0013301 aromatase deficiency MONDO:0018405 Orphanet:91 Orphanet:399983 obsolete rare male infertility due to hypothalamic-pituitary-gonadal axis disorder of genetic origin +MONDO:0013301 aromatase deficiency MONDO:0018411 Orphanet:91 Orphanet:400011 obsolete rare female infertility due to hypothalamic-pituitary-gonadal axis disorder of genetic origin +MONDO:0013301 aromatase deficiency MONDO:0034443 Orphanet:91 Orphanet:485382 obsolete genetic non-acquired premature ovarian failure +MONDO:0013304 von Willebrand disease 2 MONDO:8000031 Orphanet:166081 Orphanet:557494 obsolete subtype of a disorder +MONDO:0013306 combined oxidative phosphorylation defect type 7 MONDO:0044655 Orphanet:254930 Orphanet:497623 obsolete c12orf65-related combined oxidative phosphorylation defect +MONDO:0013308 CBL-related disorder MONDO:0015945 Orphanet:363972 Orphanet:183422 obsolete polymalformative genetic syndrome with increased risk of developing cancer +MONDO:0013308 CBL-related disorder MONDO:0018792 Orphanet:363972 Orphanet:477771 obsolete Moyamoya syndrome +MONDO:0013308 CBL-related disorder MONDO:0026989 Orphanet:363972 Orphanet:217595 obsolete syndrome associated with hypertrophic cardiomyopathy +MONDO:0013308 CBL-related disorder MONDO:8000032 Orphanet:363972 Orphanet:377789 obsolete malformation syndrome +MONDO:0013310 congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency MONDO:0019593 Orphanet:95699 Orphanet:90776 obsolete 46,XX disorder of sex development induced by fetal androgens excess +MONDO:0013310 congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency MONDO:0019595 Orphanet:95699 Orphanet:90786 obsolete 46,XY disorder of sex development due to adrenal and testicular steroidogenesis defect +MONDO:0013311 ectodermal dysplasia-syndactyly syndrome MONDO:8000032 Orphanet:247820 Orphanet:377789 obsolete malformation syndrome +MONDO:0013313 ectodermal dysplasia-cutaneous syndactyly syndrome MONDO:8000032 Orphanet:247827 Orphanet:377789 obsolete malformation syndrome +MONDO:0013317 torsade-de-pointes syndrome with short coupling interval MONDO:0015110 Orphanet:51084 Orphanet:101934 obsolete genetic cardiac rhythm disease +MONDO:0013320 chromosome 16p12.2-p11.2 deletion syndrome MONDO:8000032 Orphanet:261211 Orphanet:377789 obsolete malformation syndrome +MONDO:0013324 lymphedema-posterior choanal atresia syndrome MONDO:0015503 Orphanet:99141 Orphanet:156246 obsolete nose and cavum anomaly +MONDO:0013324 lymphedema-posterior choanal atresia syndrome MONDO:0033334 Orphanet:99141 Orphanet:435606 obsolete genetic nose and cavum anomaly +MONDO:0013324 lymphedema-posterior choanal atresia syndrome MONDO:8000032 Orphanet:99141 Orphanet:377789 obsolete malformation syndrome +MONDO:0013325 COG5-congenital disorder of glycosylation MONDO:0018284 Orphanet:263487 Orphanet:371047 obsolete congenital disorder of glycosylation with neurological involvement +MONDO:0013325 COG5-congenital disorder of glycosylation MONDO:0035862 Orphanet:263487 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome +MONDO:0013327 primary hyperoxaluria type 3 MONDO:8000031 Orphanet:93600 Orphanet:557494 obsolete subtype of a disorder +MONDO:0013329 familial clubfoot due to 17q23.1q23.2 microduplication MONDO:8000031 Orphanet:238578 Orphanet:557494 obsolete subtype of a disorder +MONDO:0013334 cocoon syndrome MONDO:0015226 Orphanet:465824 Orphanet:109009 obsolete syndrome with limb malformations as a major feature +MONDO:0013334 cocoon syndrome MONDO:8000032 Orphanet:465824 Orphanet:377789 obsolete malformation syndrome +MONDO:0013336 chromosome 19p13.13 deletion syndrome MONDO:0035863 Orphanet:357001 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0013336 chromosome 19p13.13 deletion syndrome MONDO:8000032 Orphanet:357001 Orphanet:377789 obsolete malformation syndrome +MONDO:0013341 methylmalonic acidemia due to transcobalamin receptor defect MONDO:0032011 Orphanet:280183 Orphanet:377790 obsolete biological anomaly +MONDO:0013342 hereditary spastic paraplegia 48 MONDO:0017915 Orphanet:306511 Orphanet:320346 obsolete pure or complex autosomal recessive spastic paraplegia +MONDO:0013342 hereditary spastic paraplegia 48 MONDO:0019058 Orphanet:306511 Orphanet:68385 obsolete neurometabolic disease +MONDO:0013349 ALG11-congenital disorder of glycosylation MONDO:0018287 Orphanet:280071 Orphanet:371071 obsolete congenital disorder of glycosylation with epilepsy as a major feature +MONDO:0013349 ALG11-congenital disorder of glycosylation MONDO:0035862 Orphanet:280071 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome +MONDO:0013351 infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly MONDO:0017119 Orphanet:402364 Orphanet:269528 obsolete syndrome with microcephaly as major feature +MONDO:0013351 infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly MONDO:8000032 Orphanet:402364 Orphanet:377789 obsolete malformation syndrome +MONDO:0013352 intellectual disability-severe speech delay-mild dysmorphism syndrome MONDO:0035863 Orphanet:391372 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0013352 intellectual disability-severe speech delay-mild dysmorphism syndrome MONDO:8000032 Orphanet:391372 Orphanet:377789 obsolete malformation syndrome +MONDO:0013353 intellectual disability, anterior maxillary protrusion, and strabismus MONDO:0015336 Orphanet:562559 Orphanet:139042 obsolete malformation syndrome with odontal and/or periodontal component +MONDO:0013353 intellectual disability, anterior maxillary protrusion, and strabismus MONDO:0019183 Orphanet:562559 Orphanet:77830 obsolete inherited odontologic disease +MONDO:0013353 intellectual disability, anterior maxillary protrusion, and strabismus MONDO:0020253 Orphanet:562559 Orphanet:98683 obsolete syndrome with a symptomatic strabismus +MONDO:0013353 intellectual disability, anterior maxillary protrusion, and strabismus MONDO:0035863 Orphanet:562559 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0013353 intellectual disability, anterior maxillary protrusion, and strabismus MONDO:8000032 Orphanet:562559 Orphanet:377789 obsolete malformation syndrome +MONDO:0013354 spastic ataxia 4 MONDO:0018157 Orphanet:254343 Orphanet:35696 obsolete mitochondrial disorder due to a defect in mitochondrial protein synthesis +MONDO:0013357 chromosome 17q11.2 deletion syndrome, 1.4Mb MONDO:0035863 Orphanet:137634 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0013357 chromosome 17q11.2 deletion syndrome, 1.4Mb MONDO:8000031 Orphanet:97685 Orphanet:557494 obsolete subtype of a disorder +MONDO:0013357 chromosome 17q11.2 deletion syndrome, 1.4Mb MONDO:8000032 Orphanet:137634 Orphanet:377789 obsolete malformation syndrome +MONDO:0013360 brachyolmia, Maroteaux type MONDO:8000032 Orphanet:93302 Orphanet:377789 obsolete malformation syndrome +MONDO:0013362 THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome MONDO:0035863 Orphanet:363444 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0013362 THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome MONDO:8000032 Orphanet:363444 Orphanet:377789 obsolete malformation syndrome +MONDO:0013363 chromosome 2q31.1 duplication syndrome MONDO:8000032 Orphanet:294026 Orphanet:377789 obsolete malformation syndrome +MONDO:0013364 Rubinstein-Taybi syndrome due to EP300 haploinsufficiency MONDO:8000031 Orphanet:353284 Orphanet:557494 obsolete subtype of a disorder +MONDO:0013368 mammary-digital-nail syndrome MONDO:0015852 Orphanet:238744 Orphanet:180170 obsolete excess breast volume or number +MONDO:0013368 mammary-digital-nail syndrome MONDO:0015980 Orphanet:238744 Orphanet:183731 obsolete rare genetic gynecological and obstetrical diseases +MONDO:0013368 mammary-digital-nail syndrome MONDO:0017432 Orphanet:238744 Orphanet:294955 obsolete syndrome with limb reduction defects +MONDO:0013368 mammary-digital-nail syndrome MONDO:8000032 Orphanet:238744 Orphanet:377789 obsolete malformation syndrome +MONDO:0013382 progressive demyelinating neuropathy with bilateral striatal necrosis MONDO:0019058 Orphanet:217396 Orphanet:68385 obsolete neurometabolic disease +MONDO:0013387 developmental and epileptic encephalopathy, 7 MONDO:0035862 Orphanet:439218 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome +MONDO:0013392 autosomal recessive spinocerebellar ataxia 10 MONDO:0035862 Orphanet:284289 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome +MONDO:0013393 distal 7q11.23 microdeletion syndrome MONDO:8000032 Orphanet:254351 Orphanet:377789 obsolete malformation syndrome +MONDO:0013394 porencephaly-microcephaly-bilateral congenital cataract syndrome MONDO:0017120 Orphanet:306547 Orphanet:269531 obsolete other syndrome with a central nervous system malformation as major feature +MONDO:0013394 porencephaly-microcephaly-bilateral congenital cataract syndrome MONDO:8000032 Orphanet:306547 Orphanet:377789 obsolete malformation syndrome +MONDO:0013396 chromosome 1p32-p31 deletion syndrome MONDO:0035863 Orphanet:401986 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0013396 chromosome 1p32-p31 deletion syndrome MONDO:8000032 Orphanet:401986 Orphanet:377789 obsolete malformation syndrome +MONDO:0013400 Congenital adrenal insuffiency with 46, XY sex reversal OR 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency MONDO:0019595 Orphanet:168558 Orphanet:90786 obsolete 46,XY disorder of sex development due to adrenal and testicular steroidogenesis defect +MONDO:0013400 Congenital adrenal insuffiency with 46, XY sex reversal OR 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency MONDO:0020999 Orphanet:168558 Orphanet:101960 obsolete genetic chronic primary adrenal insufficiency +MONDO:0013404 hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase MONDO:0035863 Orphanet:88618 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0013408 FADD-related immunodeficiency MONDO:0015709 Orphanet:306550 Orphanet:169355 obsolete immunodeficiency syndrome with autoimmunity +MONDO:0013424 3p- syndrome MONDO:8000032 Orphanet:1620 Orphanet:377789 obsolete malformation syndrome +MONDO:0013426 aneurysm-osteoarthritis syndrome MONDO:0017311 Orphanet:284984 Orphanet:285014 obsolete rare disease with thoracic aortic aneurysm and aortic dissection +MONDO:0013440 autosomal recessive limb-girdle muscular dystrophy type 2P MONDO:0018283 Orphanet:280333 Orphanet:371040 obsolete primary qualitative or quantitative defects of alpha-dystroglycan +MONDO:0013440 autosomal recessive limb-girdle muscular dystrophy type 2P MONDO:0018284 Orphanet:280333 Orphanet:371047 obsolete congenital disorder of glycosylation with neurological involvement +MONDO:0013440 autosomal recessive limb-girdle muscular dystrophy type 2P MONDO:0035862 Orphanet:280333 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome +MONDO:0013452 multisystemic smooth muscle dysfunction syndrome MONDO:0015106 Orphanet:404463 Orphanet:101433 obsolete rare urogenital disease +MONDO:0013452 multisystemic smooth muscle dysfunction syndrome MONDO:0015184 Orphanet:404463 Orphanet:104009 obsolete rare disease involving intestinal motility +MONDO:0013452 multisystemic smooth muscle dysfunction syndrome MONDO:0015511 Orphanet:404463 Orphanet:156619 obsolete rare genetic urogenital disease +MONDO:0013452 multisystemic smooth muscle dysfunction syndrome MONDO:0015953 Orphanet:404463 Orphanet:183503 obsolete genetic central nervous system and retinal vascular disease +MONDO:0013452 multisystemic smooth muscle dysfunction syndrome MONDO:0017159 Orphanet:404463 Orphanet:275853 obsolete syndrome with pulmonary hypertension as a major feature +MONDO:0013452 multisystemic smooth muscle dysfunction syndrome MONDO:0017311 Orphanet:404463 Orphanet:285014 obsolete rare disease with thoracic aortic aneurysm and aortic dissection +MONDO:0013452 multisystemic smooth muscle dysfunction syndrome MONDO:0019110 Orphanet:404463 Orphanet:71281 obsolete rare central nervous system or retinal vascular disease +MONDO:0013456 constitutional megaloblastic anemia with severe neurologic disease MONDO:0016406 Orphanet:319651 Orphanet:225713 obsolete other metabolic disease with epilepsy +MONDO:0013456 constitutional megaloblastic anemia with severe neurologic disease MONDO:0020111 Orphanet:319651 Orphanet:98408 obsolete constitutional megaloblastic anemia due to folate metabolism disorder +MONDO:0013458 hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome MONDO:0017159 Orphanet:363694 Orphanet:275853 obsolete syndrome with pulmonary hypertension as a major feature +MONDO:0013458 hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome MONDO:0018157 Orphanet:363694 Orphanet:35696 obsolete mitochondrial disorder due to a defect in mitochondrial protein synthesis +MONDO:0013458 hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome MONDO:0019744 Orphanet:363694 Orphanet:93603 obsolete rare renal tubular disease +MONDO:0013472 fatal infantile hypertonic myofibrillar myopathy MONDO:0018779 Orphanet:280553 Orphanet:476403 obsolete hypercontractile muscle stiffness syndrome +MONDO:0013472 fatal infantile hypertonic myofibrillar myopathy MONDO:0020343 Orphanet:280553 Orphanet:98910 obsolete alpha-crystallinopathy +MONDO:0013478 PLIN1-related familial partial lipodystrophy MONDO:0015885 Orphanet:280356 Orphanet:181368 obsolete rare insulin-resistance syndrome +MONDO:0013481 chromosome 13q14 deletion syndrome MONDO:0020165 Orphanet:1587 Orphanet:98574 obsolete syndromic epicanthus +MONDO:0013481 chromosome 13q14 deletion syndrome MONDO:0020226 Orphanet:1587 Orphanet:98642 obsolete chromosomal anomaly with cataract +MONDO:0013481 chromosome 13q14 deletion syndrome MONDO:8000032 Orphanet:1587 Orphanet:377789 obsolete malformation syndrome +MONDO:0013486 spinocerebellar ataxia type 32 MONDO:0035862 Orphanet:276183 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome +MONDO:0013487 recurrent Neisseria infections due to factor D deficiency MONDO:0018727 Orphanet:169467 Orphanet:459348 obsolete immunodeficiency due to a complement regulatory deficiency +MONDO:0013512 hemoglobin H disease MONDO:0019844 Orphanet:93616 Orphanet:95618 obsolete pituitary hormone deficiency secondary to storage disease +MONDO:0013512 hemoglobin H disease MONDO:8000031 Orphanet:93616 Orphanet:557494 obsolete subtype of a disorder +MONDO:0013523 Nestor-Guillermo progeria syndrome MONDO:0031689 Orphanet:280576 Orphanet:363245 obsolete genetic progeroid syndrome +MONDO:0013523 Nestor-Guillermo progeria syndrome MONDO:8000032 Orphanet:280576 Orphanet:377789 obsolete malformation syndrome +MONDO:0013531 PSPH deficiency MONDO:8000031 Orphanet:79350 Orphanet:557494 obsolete subtype of a disorder +MONDO:0013539 hypotonia-failure to thrive-microcephaly syndrome MONDO:0019602 Orphanet:79507 Orphanet:91088 obsolete other inborn metabolic disease +MONDO:0013540 deafness-lymphedema-leukemia syndrome MONDO:0019044 Orphanet:3226 Orphanet:68347 obsolete tumor of hematopoietic and lymphoid tissues +MONDO:0013540 deafness-lymphedema-leukemia syndrome MONDO:0019589 Orphanet:3226 Orphanet:90642 obsolete syndromic genetic hearing loss +MONDO:0013540 deafness-lymphedema-leukemia syndrome MONDO:8000032 Orphanet:3226 Orphanet:377789 obsolete malformation syndrome +MONDO:0013541 complex cortical dysplasia with other brain malformations 1 MONDO:0015572 Orphanet:300570 Orphanet:163209 obsolete cerebral malformation due to abnormal neuronal migration +MONDO:0013541 complex cortical dysplasia with other brain malformations 1 MONDO:0035863 Orphanet:300570 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0013546 mitochondrial complex V (ATP synthase) deficiency nuclear type 2 MONDO:0017718 Orphanet:1194 Orphanet:309136 obsolete mitochondrial disorder due to a defect in assembly or maturation of the respiratory chain complexes +MONDO:0013546 mitochondrial complex V (ATP synthase) deficiency nuclear type 2 MONDO:0035862 Orphanet:1194 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome +MONDO:0013559 Hermansky-Pudlak syndrome 7 MONDO:8000031 Orphanet:231531 Orphanet:557494 obsolete subtype of a disorder +MONDO:0013561 chondrodysplasia with joint dislocations, gPAPP type MONDO:0800086 Orphanet:280586 Orphanet:93441 obsolete primary bone dysplasia with multiple joint dislocations +MONDO:0013561 chondrodysplasia with joint dislocations, gPAPP type MONDO:8000032 Orphanet:280586 Orphanet:377789 obsolete malformation syndrome +MONDO:0013563 multiple congenital anomalies-hypotonia-seizures syndrome 1 MONDO:0018287 Orphanet:280633 Orphanet:371071 obsolete congenital disorder of glycosylation with epilepsy as a major feature +MONDO:0013563 multiple congenital anomalies-hypotonia-seizures syndrome 1 MONDO:0018296 Orphanet:280633 Orphanet:371235 obsolete congenital disorder of glycosylation with developmental anomaly +MONDO:0013563 multiple congenital anomalies-hypotonia-seizures syndrome 1 MONDO:0035863 Orphanet:280633 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0013563 multiple congenital anomalies-hypotonia-seizures syndrome 1 MONDO:8000032 Orphanet:280633 Orphanet:377789 obsolete malformation syndrome +MONDO:0013569 short-rib thoracic dysplasia 7 with or without polydactyly MONDO:8000032 Orphanet:498497 Orphanet:377789 obsolete malformation syndrome +MONDO:0013570 combined oxidative phosphorylation defect type 8 MONDO:0018157 Orphanet:319504 Orphanet:35696 obsolete mitochondrial disorder due to a defect in mitochondrial protein synthesis +MONDO:0013571 acatalasia MONDO:0017753 Orphanet:926 Orphanet:309810 obsolete disorder of peroxisomal alpha-, beta- and omega-oxidation +MONDO:0013572 Keppen-Lubinsky syndrome MONDO:0035863 Orphanet:435628 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0013572 Keppen-Lubinsky syndrome MONDO:8000032 Orphanet:435628 Orphanet:377789 obsolete malformation syndrome +MONDO:0013574 cutis laxa - Marfanoid syndrome MONDO:0015332 Orphanet:171719 Orphanet:139030 obsolete rare developmental defect with connective tissue involvement +MONDO:0013574 cutis laxa - Marfanoid syndrome MONDO:8000032 Orphanet:171719 Orphanet:377789 obsolete malformation syndrome +MONDO:0013576 recurrent infections associated with rare immunoglobulin isotypes deficiency MONDO:0018038 Orphanet:183675 Orphanet:331232 obsolete immunodeficiency with isotype or light chain deficiencies with normal number of B-cells +MONDO:0013578 DYRK1A-related intellectual disability syndrome MONDO:0035863 Orphanet:464306 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0013578 DYRK1A-related intellectual disability syndrome MONDO:8000032 Orphanet:464306 Orphanet:377789 obsolete malformation syndrome +MONDO:0013580 pyruvate dehydrogenase E1-beta deficiency MONDO:8000031 Orphanet:255138 Orphanet:557494 obsolete subtype of a disorder +MONDO:0013583 occipital pachygyria and polymicrogyria MONDO:0015572 Orphanet:280640 Orphanet:163209 obsolete cerebral malformation due to abnormal neuronal migration +MONDO:0013583 occipital pachygyria and polymicrogyria MONDO:8000032 Orphanet:280640 Orphanet:377789 obsolete malformation syndrome +MONDO:0013584 hereditary sensory neuropathy-deafness-dementia syndrome MONDO:0015365 Orphanet:456318 Orphanet:140474 obsolete autosomal dominant hereditary sensory and autonomic neuropathy +MONDO:0013584 hereditary sensory neuropathy-deafness-dementia syndrome MONDO:0019589 Orphanet:456318 Orphanet:90642 obsolete syndromic genetic hearing loss +MONDO:0013584 hereditary sensory neuropathy-deafness-dementia syndrome MONDO:0020136 Orphanet:456318 Orphanet:98534 obsolete neurodegenerative disease with dementia +MONDO:0013584 hereditary sensory neuropathy-deafness-dementia syndrome MONDO:0021037 Orphanet:456318 Orphanet:276058 obsolete genetic neurodegenerative disease with dementia +MONDO:0013587 glycogen storage disease due to lactate dehydrogenase H-subunit deficiency MONDO:8000031 Orphanet:284435 Orphanet:557494 obsolete subtype of a disorder +MONDO:0013595 hyperbiliverdinemia MONDO:0015507 Orphanet:276405 Orphanet:156601 obsolete rare genetic hepatic disease +MONDO:0013595 hyperbiliverdinemia MONDO:0018928 Orphanet:276405 Orphanet:57146 obsolete rare hepatic disease +MONDO:0013599 autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome MONDO:0015709 Orphanet:391487 Orphanet:169355 obsolete immunodeficiency syndrome with autoimmunity +MONDO:0013599 autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome MONDO:0026209 Orphanet:391487 Orphanet:183643 obsolete genetic polyendocrinopathy +MONDO:0013607 monocytopenia with susceptibility to infections MONDO:0015133 Orphanet:228423 Orphanet:101985 obsolete quantitative and/or qualitative congenital phagocyte defect +MONDO:0013614 hypertelorism-preauricular sinus-punctual pits-deafness syndrome MONDO:0019589 Orphanet:293958 Orphanet:90642 obsolete syndromic genetic hearing loss +MONDO:0013614 hypertelorism-preauricular sinus-punctual pits-deafness syndrome MONDO:8000032 Orphanet:293958 Orphanet:377789 obsolete malformation syndrome +MONDO:0013615 craniosynostosis and dental anomalies MONDO:0015336 Orphanet:284149 Orphanet:139042 obsolete malformation syndrome with odontal and/or periodontal component +MONDO:0013615 craniosynostosis and dental anomalies MONDO:0026190 Orphanet:284149 Orphanet:183580 obsolete genetic malformation syndrome with odontal and/or periodontal component +MONDO:0013615 craniosynostosis and dental anomalies MONDO:8000032 Orphanet:284149 Orphanet:377789 obsolete malformation syndrome +MONDO:0013622 platelet-type bleeding disorder 9 MONDO:0019138 Orphanet:98886 Orphanet:73271 obsolete bleeding diathesis due to a collagen receptor defect +MONDO:0013622 platelet-type bleeding disorder 9 MONDO:8000031 Orphanet:98886 Orphanet:557494 obsolete subtype of a disorder +MONDO:0013623 platelet-type bleeding disorder 11 MONDO:0019138 Orphanet:98885 Orphanet:73271 obsolete bleeding diathesis due to a collagen receptor defect +MONDO:0013623 platelet-type bleeding disorder 11 MONDO:8000031 Orphanet:98885 Orphanet:557494 obsolete subtype of a disorder +MONDO:0013626 psoriasis 14, pustular MONDO:0017369 Orphanet:404546 Orphanet:290839 obsolete autoinflammatory syndrome with immune deficiency +MONDO:0013626 psoriasis 14, pustular MONDO:0017370 Orphanet:404546 Orphanet:290842 obsolete autoinflammatory syndrome with skin involvement +MONDO:0013626 psoriasis 14, pustular MONDO:0017954 Orphanet:404546 Orphanet:324927 obsolete pyogenic autoinflammatory syndrome +MONDO:0013626 psoriasis 14, pustular MONDO:0019274 Orphanet:163931 Orphanet:79359 obsolete other epidermal disorder +MONDO:0013626 psoriasis 14, pustular MONDO:0019274 Orphanet:247353 Orphanet:79359 obsolete other epidermal disorder +MONDO:0013626 psoriasis 14, pustular MONDO:0019275 Orphanet:163931 Orphanet:79360 obsolete other genetic epidermal disease +MONDO:0013626 psoriasis 14, pustular MONDO:0019275 Orphanet:247353 Orphanet:79360 obsolete other genetic epidermal disease +MONDO:0013626 psoriasis 14, pustular MONDO:0957404 Orphanet:404546 Orphanet:324942 obsolete pyogenic autoinflammatory syndrome of childhood +MONDO:0013640 familial retinal arterial macroaneurysm MONDO:0015506 Orphanet:284247 Orphanet:156532 obsolete rare syndrome with cardiac malformations +MONDO:0013640 familial retinal arterial macroaneurysm MONDO:0015953 Orphanet:284247 Orphanet:183503 obsolete genetic central nervous system and retinal vascular disease +MONDO:0013640 familial retinal arterial macroaneurysm MONDO:0019110 Orphanet:284247 Orphanet:71281 obsolete rare central nervous system or retinal vascular disease +MONDO:0013640 familial retinal arterial macroaneurysm MONDO:8000032 Orphanet:284247 Orphanet:377789 obsolete malformation syndrome +MONDO:0013645 autosomal recessive spinocerebellar ataxia 11 MONDO:0035862 Orphanet:284271 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome +MONDO:0013646 chromosome 8q21.11 deletion syndrome MONDO:0035863 Orphanet:284160 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0013646 chromosome 8q21.11 deletion syndrome MONDO:8000032 Orphanet:284160 Orphanet:377789 obsolete malformation syndrome +MONDO:0013659 microcephaly-capillary malformation syndrome MONDO:0017119 Orphanet:294016 Orphanet:269528 obsolete syndrome with microcephaly as major feature +MONDO:0013659 microcephaly-capillary malformation syndrome MONDO:0018719 Orphanet:294016 Orphanet:458830 obsolete obsolete rare capillary malformation with associated anomalies +MONDO:0013659 microcephaly-capillary malformation syndrome MONDO:8000032 Orphanet:294016 Orphanet:377789 obsolete malformation syndrome +MONDO:0013661 combined malonic and methylmalonic acidemia MONDO:0035862 Orphanet:289504 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome +MONDO:0013664 46,XY disorder of sex development due to testicular 17,20-desmolase deficiency MONDO:0018618 Orphanet:443087 Orphanet:443090 obsolete 46,XY disorder of sexual development due to dihydrotestosterone backdoor pathway biosynthesis defect +MONDO:0013668 tetrasomy 18p MONDO:8000032 Orphanet:3307 Orphanet:377789 obsolete malformation syndrome +MONDO:0013673 Wolfram-like syndrome MONDO:0015886 Orphanet:411590 Orphanet:181371 obsolete rare diabetes mellitus type 1 +MONDO:0013673 Wolfram-like syndrome MONDO:0018609 Orphanet:411590 Orphanet:441434 obsolete syndromic hereditary optic neuropathy +MONDO:0013673 Wolfram-like syndrome MONDO:0019589 Orphanet:411590 Orphanet:90642 obsolete syndromic genetic hearing loss +MONDO:0013674 neurodegeneration with brain iron accumulation 4 MONDO:0018609 Orphanet:289560 Orphanet:441434 obsolete syndromic hereditary optic neuropathy +MONDO:0013678 EDICT syndrome MONDO:0020211 Orphanet:293936 Orphanet:98623 obsolete syndromic keratoconus +MONDO:0013691 Feingold syndrome type 2 MONDO:8000031 Orphanet:391646 Orphanet:557494 obsolete subtype of a disorder +MONDO:0013700 pancreatic triacylglycerol lipase deficiency MONDO:0017709 Orphanet:309031 Orphanet:309028 obsolete disorder of lipid absorption and transport +MONDO:0013711 peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome MONDO:0019589 Orphanet:397744 Orphanet:90642 obsolete syndromic genetic hearing loss +MONDO:0013722 hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism MONDO:0017118 Orphanet:85186 Orphanet:269523 obsolete syndrome with a cerebellar malformation as major feature +MONDO:0013722 hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism MONDO:0800084 Orphanet:85186 Orphanet:93444 obsolete primary bone dysplasia with increased bone density +MONDO:0013722 hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism MONDO:8000032 Orphanet:85186 Orphanet:377789 obsolete malformation syndrome +MONDO:0013726 encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1 MONDO:8000031 Orphanet:330050 Orphanet:557494 obsolete subtype of a disorder +MONDO:0013730 graft versus host disease MONDO:0020008 Orphanet:39812 Orphanet:98004 obsolete rare immune disease +MONDO:0013730 graft versus host disease MONDO:0035426 Orphanet:39812 Orphanet:565779 obsolete rare disorder potentially indicated for transplant or complication after transplantation +MONDO:0013735 microcephaly-cerebellar hypoplasia-cardiac conduction defect syndrome MONDO:0017119 Orphanet:329332 Orphanet:269528 obsolete syndrome with microcephaly as major feature +MONDO:0013735 microcephaly-cerebellar hypoplasia-cardiac conduction defect syndrome MONDO:0035863 Orphanet:329332 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0013735 microcephaly-cerebellar hypoplasia-cardiac conduction defect syndrome MONDO:8000032 Orphanet:329332 Orphanet:377789 obsolete malformation syndrome +MONDO:0013737 hereditary spastic paraplegia 46 MONDO:0015089 Orphanet:320391 Orphanet:100981 obsolete autosomal recessive complex spastic paraplegia +MONDO:0013737 hereditary spastic paraplegia 46 MONDO:0035862 Orphanet:320391 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome +MONDO:0013740 lethal occipital encephalocele-skeletal dysplasia syndrome MONDO:8000032 Orphanet:293925 Orphanet:377789 obsolete malformation syndrome MONDO:0013742 obsolete familial mesial temporal lobe epilepsy with febrile seizures MONDO:0000001 Orphanet:165805 Orphanet:377788 disease +MONDO:0013742 obsolete familial mesial temporal lobe epilepsy with febrile seizures MONDO:0017704 Orphanet:165805 Orphanet:309 familial partial epilepsy +MONDO:0013743 autosomal systemic lupus erythematosus type 16 MONDO:0015939 Orphanet:300345 Orphanet:182228 obsolete systemic autoimmune disease +MONDO:0013743 autosomal systemic lupus erythematosus type 16 MONDO:0018782 Orphanet:300345 Orphanet:477647 obsolete type 1 interferonopathy +MONDO:0013753 Charcot-Marie-Tooth disease axonal type 2P MONDO:0019601 Orphanet:300319 Orphanet:91024 obsolete autosomal recessive axonal hereditary motor and sensory neuropathy +MONDO:0013755 PYCR1-related de Barsy syndrome MONDO:8000031 Orphanet:293633 Orphanet:557494 obsolete subtype of a disorder +MONDO:0013760 congenital ichthyosis-intellectual disability-spastic quadriplegia syndrome MONDO:0017272 Orphanet:352333 Orphanet:281238 obsolete autosomal ichthyosis syndrome with prominent neurologics signs +MONDO:0013760 congenital ichthyosis-intellectual disability-spastic quadriplegia syndrome MONDO:0018118 Orphanet:352333 Orphanet:352306 obsolete disorder of phospholipids, sphingolipids and fatty acids biosynthesis with central nervous system predominant involvement +MONDO:0013760 congenital ichthyosis-intellectual disability-spastic quadriplegia syndrome MONDO:0019058 Orphanet:352333 Orphanet:68385 obsolete neurometabolic disease +MONDO:0013760 congenital ichthyosis-intellectual disability-spastic quadriplegia syndrome MONDO:0035862 Orphanet:352333 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome +MONDO:0013762 lipoic acid synthetase deficiency MONDO:0016402 Orphanet:401859 Orphanet:225700 obsolete mitochondrial disease with epilepsy +MONDO:0013762 lipoic acid synthetase deficiency MONDO:0019058 Orphanet:401859 Orphanet:68385 obsolete neurometabolic disease +MONDO:0013766 familial cold autoinflammatory syndrome 3 MONDO:0015939 Orphanet:300359 Orphanet:182228 obsolete systemic autoimmune disease +MONDO:0013766 familial cold autoinflammatory syndrome 3 MONDO:0017369 Orphanet:300359 Orphanet:290839 obsolete autoinflammatory syndrome with immune deficiency +MONDO:0013766 familial cold autoinflammatory syndrome 3 MONDO:0017956 Orphanet:300359 Orphanet:324933 obsolete mixed autoinflammatory and autoimmune syndrome +MONDO:0013766 familial cold autoinflammatory syndrome 3 MONDO:0019305 Orphanet:300359 Orphanet:79391 obsolete immune deficiency with skin involvement +MONDO:0013767 autoimmune lymphoproliferative syndrome type 4 MONDO:0015709 Orphanet:268114 Orphanet:169355 obsolete immunodeficiency syndrome with autoimmunity +MONDO:0013771 transient infantile hypertriglyceridemia and hepatosteatosis MONDO:0015114 Orphanet:300293 Orphanet:101939 obsolete rare parenchymal liver disease +MONDO:0013771 transient infantile hypertriglyceridemia and hepatosteatosis MONDO:0015508 Orphanet:300293 Orphanet:156604 obsolete hereditary parenchymatous liver disease +MONDO:0013772 Huppke-Brendel syndrome MONDO:0019058 Orphanet:300313 Orphanet:68385 obsolete neurometabolic disease +MONDO:0013772 Huppke-Brendel syndrome MONDO:0020225 Orphanet:300313 Orphanet:98641 obsolete syndromic cataract +MONDO:0013775 thrombomodulin-related bleeding disorder MONDO:0019039 Orphanet:436169 Orphanet:68334 obsolete rare hemorrhagic disorder due to a constitutional coagulation factors defect +MONDO:0013777 pseudohypoaldosteronism type 2B MONDO:8000031 Orphanet:88939 Orphanet:557494 obsolete subtype of a disorder +MONDO:0013778 pseudohypoaldosteronism type 2C MONDO:8000031 Orphanet:88940 Orphanet:557494 obsolete subtype of a disorder +MONDO:0013781 pseudohypoaldosteronism type 2D MONDO:8000031 Orphanet:300525 Orphanet:557494 obsolete subtype of a disorder +MONDO:0013782 pseudohypoaldosteronism type 2E MONDO:8000031 Orphanet:300530 Orphanet:557494 obsolete subtype of a disorder +MONDO:0013784 neonatal-onset encephalopathy with rigidity and seizures MONDO:8000032 Orphanet:435845 Orphanet:377789 obsolete malformation syndrome +MONDO:0013789 DDOST-congenital disorder of glycosylation MONDO:0018284 Orphanet:300536 Orphanet:371047 obsolete congenital disorder of glycosylation with neurological involvement +MONDO:0013789 DDOST-congenital disorder of glycosylation MONDO:0018288 Orphanet:300536 Orphanet:371157 obsolete congenital disorder of glycosylation with hepatic involvement +MONDO:0013789 DDOST-congenital disorder of glycosylation MONDO:0035862 Orphanet:300536 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome +MONDO:0013796 chromosome 17q12 duplication syndrome MONDO:8000032 Orphanet:261272 Orphanet:377789 obsolete malformation syndrome +MONDO:0013797 chromosome 17q12 deletion syndrome MONDO:8000032 Orphanet:261265 Orphanet:377789 obsolete malformation syndrome +MONDO:0013800 Ehlers-Danlos syndrome, kyphoscoliotic and deafness type MONDO:0034024 Orphanet:300179 Orphanet:536545 obsolete kyphoscoliotic Ehlers-Danlos syndrome +MONDO:0013800 Ehlers-Danlos syndrome, kyphoscoliotic and deafness type MONDO:8000031 Orphanet:300179 Orphanet:557494 obsolete subtype of a disorder +MONDO:0013802 infantile cerebellar-retinal degeneration MONDO:0015918 Orphanet:313850 Orphanet:182070 obsolete rare neurodegenerative disease +MONDO:0013802 infantile cerebellar-retinal degeneration MONDO:0018609 Orphanet:313850 Orphanet:441434 obsolete syndromic hereditary optic neuropathy +MONDO:0013802 infantile cerebellar-retinal degeneration MONDO:0019058 Orphanet:313850 Orphanet:68385 obsolete neurometabolic disease +MONDO:0013802 infantile cerebellar-retinal degeneration MONDO:0034953 Orphanet:313850 Orphanet:519325 obsolete syndromic inherited retinal disorder +MONDO:0013803 leukoencephalopathy with calcifications and cysts MONDO:0018787 Orphanet:542310 Orphanet:477754 obsolete genetic cerebral small vessel disease +MONDO:0013806 familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome MONDO:0015948 Orphanet:313846 Orphanet:183478 obsolete rare genetic skin vascular disorder +MONDO:0013808 Maffucci syndrome MONDO:0015948 Orphanet:163634 Orphanet:183478 obsolete rare genetic skin vascular disorder +MONDO:0013808 Maffucci syndrome MONDO:0015959 Orphanet:163634 Orphanet:183527 obsolete inherited syndrome with bone tumors as a major feature +MONDO:0013808 Maffucci syndrome MONDO:0016235 Orphanet:163634 Orphanet:211277 obsolete complex vascular malformation with associated anomalies +MONDO:0013808 Maffucci syndrome MONDO:0020063 Orphanet:163634 Orphanet:98196 obsolete malformation syndrome with hamartosis +MONDO:0013808 Maffucci syndrome MONDO:0033927 Orphanet:163634 Orphanet:459537 obsolete genetic complex vascular malformation with associated anomalies +MONDO:0013808 Maffucci syndrome MONDO:0800089 Orphanet:163634 Orphanet:93450 obsolete primary bone dysplasia with disorganized development of skeletal components +MONDO:0013810 COG6-ongenital disorder of glycosylation MONDO:0018284 Orphanet:464443 Orphanet:371047 obsolete congenital disorder of glycosylation with neurological involvement +MONDO:0013811 combined oxidative phosphorylation defect type 9 MONDO:0018157 Orphanet:319509 Orphanet:35696 obsolete mitochondrial disorder due to a defect in mitochondrial protein synthesis +MONDO:0013825 congenital diarrhea 6 MONDO:0015184 Orphanet:314373 Orphanet:104009 obsolete rare disease involving intestinal motility +MONDO:0013836 familial steroid-resistant nephrotic syndrome with sensorineural deafness MONDO:0019589 Orphanet:280406 Orphanet:90642 obsolete syndromic genetic hearing loss +MONDO:0013839 hereditary sensory and autonomic neuropathy type 6 MONDO:0015366 Orphanet:314381 Orphanet:140477 obsolete autosomal recessive hereditary sensory and autonomic neuropathy +MONDO:0013840 encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome MONDO:0016327 Orphanet:319678 Orphanet:217587 obsolete mitochondrial disease with hypertrophic cardiomyopathy +MONDO:0013843 intestinal obstruction in the newborn due to guanylate cyclase 2C deficiency MONDO:0015184 Orphanet:314376 Orphanet:104009 obsolete rare disease involving intestinal motility +MONDO:0013847 chromosome 16p11.2 duplication syndrome MONDO:0035862 Orphanet:370079 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome +MONDO:0013847 chromosome 16p11.2 duplication syndrome MONDO:8000032 Orphanet:370079 Orphanet:377789 obsolete malformation syndrome +MONDO:0013858 pontine tegmental cap dysplasia MONDO:0020133 Orphanet:269229 Orphanet:98519 obsolete posterior fossa malformation +MONDO:0013858 pontine tegmental cap dysplasia MONDO:8000030 Orphanet:269229 Orphanet:377791 obsolete morphological anomaly +MONDO:0013863 combined immunodeficiency due to LRBA deficiency MONDO:0026209 Orphanet:445018 Orphanet:183643 obsolete genetic polyendocrinopathy +MONDO:0013865 mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency MONDO:0016327 Orphanet:314637 Orphanet:217587 obsolete mitochondrial disease with hypertrophic cardiomyopathy +MONDO:0013865 mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency MONDO:0018157 Orphanet:314637 Orphanet:35696 obsolete mitochondrial disorder due to a defect in mitochondrial protein synthesis +MONDO:0013867 brown-Vialetto-van Laere syndrome 2 MONDO:8000031 Orphanet:572550 Orphanet:557494 obsolete subtype of a disorder +MONDO:0013869 adenine phosphoribosyltransferase deficiency MONDO:0019743 Orphanet:976 Orphanet:93593 obsolete nephropathy secondary to a storage or other metabolic disease +MONDO:0013870 TMEM165-congenital disorder of glycosylation MONDO:0018284 Orphanet:314667 Orphanet:371047 obsolete congenital disorder of glycosylation with neurological involvement +MONDO:0013870 TMEM165-congenital disorder of glycosylation MONDO:0018288 Orphanet:314667 Orphanet:371157 obsolete congenital disorder of glycosylation with hepatic involvement +MONDO:0013870 TMEM165-congenital disorder of glycosylation MONDO:0018292 Orphanet:314667 Orphanet:371195 obsolete congenital disorder of glycosylation-related bone disorder +MONDO:0013870 TMEM165-congenital disorder of glycosylation MONDO:0019704 Orphanet:314667 Orphanet:93446 obsolete primary bone dysplasia with decreased bone density +MONDO:0013873 IMAGe syndrome MONDO:0015620 Orphanet:85173 Orphanet:165707 obsolete syndromic urogenital tract malformation +MONDO:0013873 IMAGe syndrome MONDO:0019590 Orphanet:85173 Orphanet:90692 obsolete rare endocrine growth disease +MONDO:0013873 IMAGe syndrome MONDO:0019699 Orphanet:85173 Orphanet:93440 obsolete slender bone dysplasia +MONDO:0013873 IMAGe syndrome MONDO:0035683 Orphanet:85173 Orphanet:595337 obsolete adrenal hypoplasia congenita +MONDO:0013873 IMAGe syndrome MONDO:8000032 Orphanet:85173 Orphanet:377789 obsolete malformation syndrome +MONDO:0013875 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome MONDO:0017718 Orphanet:352328 Orphanet:309136 obsolete mitochondrial disorder due to a defect in assembly or maturation of the respiratory chain complexes +MONDO:0013875 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome MONDO:0018118 Orphanet:352328 Orphanet:352306 obsolete disorder of phospholipids, sphingolipids and fatty acids biosynthesis with central nervous system predominant involvement +MONDO:0013875 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome MONDO:0019058 Orphanet:352328 Orphanet:68385 obsolete neurometabolic disease +MONDO:0013875 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome MONDO:0019589 Orphanet:352328 Orphanet:90642 obsolete syndromic genetic hearing loss +MONDO:0013877 mitochondrial pyruvate carrier deficiency MONDO:0019058 Orphanet:447784 Orphanet:68385 obsolete neurometabolic disease +MONDO:0013881 pidermolysis bullosa, junctional 7, with interstitial lung disease and nephrotic syndrome MONDO:0017016 Orphanet:306504 Orphanet:264670 obsolete primary interstitial lung disease specific to childhood due to alveolar structure disorder +MONDO:0013881 pidermolysis bullosa, junctional 7, with interstitial lung disease and nephrotic syndrome MONDO:0028569 Orphanet:306504 Orphanet:264992 obsolete genetic interstitial lung disease +MONDO:0013885 Malan overgrowth syndrome MONDO:0035863 Orphanet:420179 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0013885 Malan overgrowth syndrome MONDO:8000032 Orphanet:420179 Orphanet:377789 obsolete malformation syndrome +MONDO:0013886 cerebellar dysfunction with variable cognitive and behavioral abnormalities MONDO:0035862 Orphanet:314647 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome +MONDO:0013889 short stature-optic atrophy-Pelger-HuC+t anomaly syndrome MONDO:0015329 Orphanet:391677 Orphanet:139021 obsolete malformation syndrome with short stature +MONDO:0013889 short stature-optic atrophy-Pelger-HuC+t anomaly syndrome MONDO:0018609 Orphanet:391677 Orphanet:441434 obsolete syndromic hereditary optic neuropathy +MONDO:0013889 short stature-optic atrophy-Pelger-HuC+t anomaly syndrome MONDO:0026187 Orphanet:391677 Orphanet:183570 obsolete genetic malformation syndrome with short stature +MONDO:0013889 short stature-optic atrophy-Pelger-HuC+t anomaly syndrome MONDO:8000032 Orphanet:391677 Orphanet:377789 obsolete malformation syndrome +MONDO:0013890 congenital myopathy with internal nuclei and atypical cores MONDO:0015765 Orphanet:319160 Orphanet:172976 obsolete congenital myopathy with cores +MONDO:0013894 short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome MONDO:0019699 Orphanet:314394 Orphanet:93440 obsolete slender bone dysplasia +MONDO:0013905 autosomal recessive spinocerebellar ataxia 13 MONDO:0035862 Orphanet:324262 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome +MONDO:0013905 autosomal recessive spinocerebellar ataxia 13 MONDO:8000031 Orphanet:324262 Orphanet:557494 obsolete subtype of a disorder +MONDO:0013907 bilateral generalized polymicrogyria MONDO:8000031 Orphanet:208447 Orphanet:557494 obsolete subtype of a disorder +MONDO:0013918 distal tetrasomy 15q MONDO:8000031 Orphanet:314588 Orphanet:557494 obsolete subtype of a disorder +MONDO:0013922 Seckel syndrome 7 MONDO:0017950 Orphanet:319675 Orphanet:324761 obsolete microcephalic primordial dwarfism +MONDO:0013922 Seckel syndrome 7 MONDO:8000032 Orphanet:319675 Orphanet:377789 obsolete malformation syndrome +MONDO:0013925 methylmalonic acidemia with homocystinuria, type cblJ MONDO:8000031 Orphanet:369955 Orphanet:557494 obsolete subtype of a disorder +MONDO:0013941 metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria MONDO:0800089 Orphanet:99646 Orphanet:93450 obsolete primary bone dysplasia with disorganized development of skeletal components +MONDO:0013944 autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation MONDO:0017956 Orphanet:324530 Orphanet:324933 obsolete mixed autoinflammatory and autoimmune syndrome +MONDO:0013954 Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency MONDO:0017897 Orphanet:319558 Orphanet:319535 obsolete autosomal recessive mendelian susceptibility to mycobacterial diseases due to a complete deficiency +MONDO:0013955 Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency MONDO:0017897 Orphanet:319552 Orphanet:319535 obsolete autosomal recessive mendelian susceptibility to mycobacterial diseases due to a complete deficiency +MONDO:0013956 Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency MONDO:0017899 Orphanet:319595 Orphanet:319543 obsolete autosomal dominant mendelian susceptibility to mycobacterial diseases due to a partial deficiency +MONDO:0013957 Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency MONDO:0017899 Orphanet:319600 Orphanet:319543 obsolete autosomal dominant mendelian susceptibility to mycobacterial diseases due to a partial deficiency +MONDO:0013960 sinoatrial node dysfunction and deafness MONDO:0015110 Orphanet:324321 Orphanet:101934 obsolete genetic cardiac rhythm disease +MONDO:0013960 sinoatrial node dysfunction and deafness MONDO:0019589 Orphanet:324321 Orphanet:90642 obsolete syndromic genetic hearing loss +MONDO:0013962 hereditary spastic paraplegia 53 MONDO:0015089 Orphanet:319199 Orphanet:100981 obsolete autosomal recessive complex spastic paraplegia +MONDO:0013962 hereditary spastic paraplegia 53 MONDO:0035862 Orphanet:319199 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome +MONDO:0013968 PGM1-congenital disorder of glycosylation MONDO:0018288 Orphanet:319646 Orphanet:371157 obsolete congenital disorder of glycosylation with hepatic involvement +MONDO:0013968 PGM1-congenital disorder of glycosylation MONDO:0018289 Orphanet:319646 Orphanet:371176 obsolete congenital disorder of glycosylation with dilated cardiomyopathy +MONDO:0013969 combined oxidative phosphorylation defect type 11 MONDO:0018157 Orphanet:324535 Orphanet:35696 obsolete mitochondrial disorder due to a defect in mitochondrial protein synthesis +MONDO:0013969 combined oxidative phosphorylation defect type 11 MONDO:0019058 Orphanet:324535 Orphanet:68385 obsolete neurometabolic disease +MONDO:0013970 branched-chain keto acid dehydrogenase kinase deficiency MONDO:0016399 Orphanet:308410 Orphanet:225689 obsolete amino acid or protein metabolism disease with epilepsy +MONDO:0013971 leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome MONDO:0018157 Orphanet:314051 Orphanet:35696 obsolete mitochondrial disorder due to a defect in mitochondrial protein synthesis +MONDO:0013972 Perrault syndrome 2 MONDO:8000031 Orphanet:642976 Orphanet:557494 obsolete subtype of a disorder +MONDO:0013977 combined oxidative phosphorylation defect type 13 MONDO:0018157 Orphanet:319514 Orphanet:35696 obsolete mitochondrial disorder due to a defect in mitochondrial protein synthesis +MONDO:0013981 myoclonus, familial MONDO:0017651 Orphanet:319189 Orphanet:306750 obsolete primary myoclonus +MONDO:0013986 combined oxidative phosphorylation defect type 14 MONDO:0018157 Orphanet:319519 Orphanet:35696 obsolete mitochondrial disorder due to a defect in mitochondrial protein synthesis +MONDO:0013987 combined oxidative phosphorylation defect type 15 MONDO:0018157 Orphanet:319524 Orphanet:35696 obsolete mitochondrial disorder due to a defect in mitochondrial protein synthesis +MONDO:0013990 pontocerebellar hypoplasia type 8 MONDO:8000032 Orphanet:324569 Orphanet:377789 obsolete malformation syndrome +MONDO:0013991 obesity due to congenital leptin deficiency MONDO:0015891 Orphanet:66628 Orphanet:181390 obsolete hypogonadotropic hypogonadism associated with other endocrinopathies +MONDO:0013991 obesity due to congenital leptin deficiency MONDO:0020075 Orphanet:66628 Orphanet:98267 obsolete hereditary non-syndromic obesity +MONDO:0013991 obesity due to congenital leptin deficiency MONDO:8000031 Orphanet:66628 Orphanet:557494 obsolete subtype of a disorder +MONDO:0013992 obesity due to leptin receptor gene deficiency MONDO:0015825 Orphanet:179494 Orphanet:179490 obsolete obesity due to congenital leptin resistance +MONDO:0013992 obesity due to leptin receptor gene deficiency MONDO:0015891 Orphanet:179494 Orphanet:181390 obsolete hypogonadotropic hypogonadism associated with other endocrinopathies +MONDO:0013993 pontocerebellar hypoplasia type 7 MONDO:0035863 Orphanet:284339 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0013993 pontocerebellar hypoplasia type 7 MONDO:8000032 Orphanet:284339 Orphanet:377789 obsolete malformation syndrome +MONDO:0013996 focal facial dermal dysplasia type II MONDO:8000031 Orphanet:398173 Orphanet:557494 obsolete subtype of a disorder +MONDO:0013997 focal facial dermal dysplasia type IV MONDO:8000031 Orphanet:398189 Orphanet:557494 obsolete subtype of a disorder +MONDO:0013999 retinal dystrophy, optic nerve edema, splenomegaly, anhidrosis, and migraine headache syndrome MONDO:0008331 Orphanet:313800 Orphanet:519339 obsolete pseudopapilledema +MONDO:0013999 retinal dystrophy, optic nerve edema, splenomegaly, anhidrosis, and migraine headache syndrome MONDO:0015621 Orphanet:313800 Orphanet:165711 obsolete rare abdominal surgical disease +MONDO:0013999 retinal dystrophy, optic nerve edema, splenomegaly, anhidrosis, and migraine headache syndrome MONDO:0034953 Orphanet:313800 Orphanet:519325 obsolete syndromic inherited retinal disorder +MONDO:0014005 immunoglobulin-mediated membranoproliferative glomerulonephritis MONDO:8000031 Orphanet:329903 Orphanet:557494 obsolete subtype of a disorder +MONDO:0014006 Schuurs-Hoeijmakers syndrome MONDO:0035863 Orphanet:329224 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0014006 Schuurs-Hoeijmakers syndrome MONDO:8000032 Orphanet:329224 Orphanet:377789 obsolete malformation syndrome +MONDO:0014013 maternal riboflavin deficiency MONDO:0017760 Orphanet:411712 Orphanet:309833 obsolete disorder of other vitamins and cofactors metabolism and transport +MONDO:0014014 epidermolysis bullosa simplex 4, localized or generalized intermediate, autosomal recessive MONDO:0035684 Orphanet:412189 Orphanet:595346 obsolete epidermolysis bullosa simplex without extracutaneous involvement +MONDO:0014015 hereditary spastic paraplegia 56 MONDO:0017915 Orphanet:320411 Orphanet:320346 obsolete pure or complex autosomal recessive spastic paraplegia +MONDO:0014015 hereditary spastic paraplegia 56 MONDO:0035862 Orphanet:320411 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome +MONDO:0014016 hereditary spastic paraplegia 49 MONDO:0015089 Orphanet:320385 Orphanet:100981 obsolete autosomal recessive complex spastic paraplegia +MONDO:0014016 hereditary spastic paraplegia 49 MONDO:0015366 Orphanet:320385 Orphanet:140477 obsolete autosomal recessive hereditary sensory and autonomic neuropathy +MONDO:0014016 hereditary spastic paraplegia 49 MONDO:0035862 Orphanet:320385 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome +MONDO:0014017 intellectual developmental disorder with autism and macrocephaly MONDO:0035863 Orphanet:642675 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0014018 hereditary spastic paraplegia 54 MONDO:0015089 Orphanet:320380 Orphanet:100981 obsolete autosomal recessive complex spastic paraplegia +MONDO:0014018 hereditary spastic paraplegia 54 MONDO:0035862 Orphanet:320380 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome +MONDO:0014020 hereditary spastic paraplegia 55 MONDO:0018550 Orphanet:320375 Orphanet:431320 obsolete spastic paraplegia-optic atrophy-neuropathy and spastic paraplegia-optic atrophy-neuropathy-related disorder +MONDO:0014020 hereditary spastic paraplegia 55 MONDO:0044655 Orphanet:320375 Orphanet:497623 obsolete c12orf65-related combined oxidative phosphorylation defect +MONDO:0014021 familial episodic pain syndrome with predominantly upper body involvement MONDO:8000031 Orphanet:391389 Orphanet:557494 obsolete subtype of a disorder +MONDO:0014023 congenital muscular dystrophy with intellectual disability and severe epilepsy MONDO:0018287 Orphanet:329178 Orphanet:371071 obsolete congenital disorder of glycosylation with epilepsy as a major feature +MONDO:0014023 congenital muscular dystrophy with intellectual disability and severe epilepsy MONDO:0018288 Orphanet:329178 Orphanet:371157 obsolete congenital disorder of glycosylation with hepatic involvement +MONDO:0014023 congenital muscular dystrophy with intellectual disability and severe epilepsy MONDO:0035862 Orphanet:329178 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome +MONDO:0014024 hereditary spastic paraplegia 43 MONDO:0015089 Orphanet:320370 Orphanet:100981 obsolete autosomal recessive complex spastic paraplegia +MONDO:0014025 lower motor neuron syndrome with late-adult onset MONDO:0016224 Orphanet:276435 Orphanet:211037 obsolete autosomal dominant proximal spinal muscular atrophy +MONDO:0014031 microcephalic primordial dwarfism, Alazami type MONDO:0017950 Orphanet:319671 Orphanet:324761 obsolete microcephalic primordial dwarfism +MONDO:0014031 microcephalic primordial dwarfism, Alazami type MONDO:8000032 Orphanet:319671 Orphanet:377789 obsolete malformation syndrome +MONDO:0014034 severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome MONDO:0035863 Orphanet:363686 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0014035 severe intellectual disability-progressive spastic diplegia syndrome MONDO:0035863 Orphanet:404473 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0014035 severe intellectual disability-progressive spastic diplegia syndrome MONDO:8000032 Orphanet:404473 Orphanet:377789 obsolete malformation syndrome +MONDO:0014039 mitochondrial DNA depletion syndrome 11 MONDO:0019058 Orphanet:352447 Orphanet:68385 obsolete neurometabolic disease +MONDO:0014039 mitochondrial DNA depletion syndrome 11 MONDO:0035862 Orphanet:352447 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome +MONDO:0014043 microcephalic primordial dwarfism due to ZNF335 deficiency MONDO:0017950 Orphanet:329228 Orphanet:324761 obsolete microcephalic primordial dwarfism +MONDO:0014043 microcephalic primordial dwarfism due to ZNF335 deficiency MONDO:8000032 Orphanet:329228 Orphanet:377789 obsolete malformation syndrome +MONDO:0014044 dysmorphism-conductive hearing loss-heart defect syndrome MONDO:0019589 Orphanet:289553 Orphanet:90642 obsolete syndromic genetic hearing loss +MONDO:0014044 dysmorphism-conductive hearing loss-heart defect syndrome MONDO:0035863 Orphanet:289553 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0014044 dysmorphism-conductive hearing loss-heart defect syndrome MONDO:8000032 Orphanet:289553 Orphanet:377789 obsolete malformation syndrome +MONDO:0014058 facial dysmorphism-immunodeficiency-livedo-short stature syndrome MONDO:0015329 Orphanet:352712 Orphanet:139021 obsolete malformation syndrome with short stature +MONDO:0014058 facial dysmorphism-immunodeficiency-livedo-short stature syndrome MONDO:0015331 Orphanet:352712 Orphanet:139027 obsolete malformation syndrome with skin/mucosae involvement +MONDO:0014058 facial dysmorphism-immunodeficiency-livedo-short stature syndrome MONDO:0018035 Orphanet:352712 Orphanet:331217 obsolete syndrome with combined immunodeficiency +MONDO:0014058 facial dysmorphism-immunodeficiency-livedo-short stature syndrome MONDO:0026187 Orphanet:352712 Orphanet:183570 obsolete genetic malformation syndrome with short stature +MONDO:0014060 progressive retinal dystrophy due to retinol transport defect MONDO:0017760 Orphanet:352718 Orphanet:309833 obsolete disorder of other vitamins and cofactors metabolism and transport +MONDO:0014060 progressive retinal dystrophy due to retinol transport defect MONDO:0034953 Orphanet:352718 Orphanet:519325 obsolete syndromic inherited retinal disorder +MONDO:0014061 Steel syndrome MONDO:0800086 Orphanet:438117 Orphanet:93441 obsolete primary bone dysplasia with multiple joint dislocations +MONDO:0014062 mitochondrial DNA deletion syndrome with progressive myopathy MONDO:0016797 Orphanet:352470 Orphanet:254807 obsolete multiple mitochondrial DNA deletion syndrome +MONDO:0014067 short ulna-dysmorphism-hypotonia-intellectual disability syndrome MONDO:0035863 Orphanet:357175 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0014067 short ulna-dysmorphism-hypotonia-intellectual disability syndrome MONDO:8000032 Orphanet:357175 Orphanet:377789 obsolete malformation syndrome +MONDO:0014069 syndactyly-camptodactyly and clinodactyly of fifth fingers-bifid toes syndrome MONDO:0017434 Orphanet:357332 Orphanet:294959 obsolete syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy +MONDO:0014069 syndactyly-camptodactyly and clinodactyly of fifth fingers-bifid toes syndrome MONDO:8000032 Orphanet:357332 Orphanet:377789 obsolete malformation syndrome +MONDO:0014080 osteosclerotic metaphyseal dysplasia MONDO:8000032 Orphanet:500548 Orphanet:377789 obsolete malformation syndrome +MONDO:0014089 corneal intraepithelial dyskeratosis-palmoplantar hyperkeratosis-laryngeal dyskeratosis syndrome MONDO:0020094 Orphanet:352662 Orphanet:98352 obsolete autosomal dominant disease with diffuse palmoplantar keratoderma as a major feature +MONDO:0014094 severe congenital hypochromic anemia with ringed sideroblasts MONDO:0020098 Orphanet:300298 Orphanet:98360 obsolete constitutional anemia due to iron metabolism disorder +MONDO:0014097 congenital short bowel syndrome MONDO:0015211 Orphanet:2301 Orphanet:108967 obsolete non-syndromic intestinal malformation +MONDO:0014097 congenital short bowel syndrome MONDO:0018241 Orphanet:2301 Orphanet:365563 obsolete primary short bowel syndrome +MONDO:0014097 congenital short bowel syndrome MONDO:8000030 Orphanet:2301 Orphanet:377791 obsolete morphological anomaly +MONDO:0014118 congenital neutropenia-myelofibrosis-nephromegaly syndrome MONDO:0018032 Orphanet:369852 Orphanet:331184 obsolete constitutional neutropenia with extra-hematopoietic manifestations +MONDO:0014119 intellectual disability-strabismus syndrome MONDO:0020253 Orphanet:363528 Orphanet:98683 obsolete syndrome with a symptomatic strabismus +MONDO:0014119 intellectual disability-strabismus syndrome MONDO:0035863 Orphanet:363528 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0014121 autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures MONDO:8000031 Orphanet:363454 Orphanet:557494 obsolete subtype of a disorder +MONDO:0014131 hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome MONDO:0017671 Orphanet:363523 Orphanet:307804 obsolete autosomal recessive disease with diffuse palmoplantar keratoderma as a major feature +MONDO:0014131 hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome MONDO:0020014 Orphanet:363523 Orphanet:98027 obsolete rare disease with odontological manifestation +MONDO:0014131 hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome MONDO:0035862 Orphanet:363523 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome +MONDO:0014139 Ehlers-Danlos syndrome, spondylodysplastic type, 2 MONDO:0017742 Orphanet:536467 Orphanet:309450 obsolete disorder of O-xylosylglycan synthesis +MONDO:0014139 Ehlers-Danlos syndrome, spondylodysplastic type, 2 MONDO:0018292 Orphanet:536467 Orphanet:371195 obsolete congenital disorder of glycosylation-related bone disorder +MONDO:0014139 Ehlers-Danlos syndrome, spondylodysplastic type, 2 MONDO:0019704 Orphanet:536467 Orphanet:93446 obsolete primary bone dysplasia with decreased bone density +MONDO:0014139 Ehlers-Danlos syndrome, spondylodysplastic type, 2 MONDO:0035862 Orphanet:536467 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome +MONDO:0014139 Ehlers-Danlos syndrome, spondylodysplastic type, 2 MONDO:8000031 Orphanet:536467 Orphanet:557494 obsolete subtype of a disorder +MONDO:0014142 autosomal recessive limb-girdle muscular dystrophy type 2T MONDO:0017745 Orphanet:363623 Orphanet:309469 obsolete disorder of O-mannosylglycan synthesis +MONDO:0014142 autosomal recessive limb-girdle muscular dystrophy type 2T MONDO:0018284 Orphanet:363623 Orphanet:371047 obsolete congenital disorder of glycosylation with neurological involvement +MONDO:0014142 autosomal recessive limb-girdle muscular dystrophy type 2T MONDO:0035862 Orphanet:363623 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome +MONDO:0014148 estrogen resistance syndrome MONDO:0015513 Orphanet:785 Orphanet:156638 obsolete rare genetic endocrine disease +MONDO:0014148 estrogen resistance syndrome MONDO:0015860 Orphanet:785 Orphanet:180208 obsolete anomaly of puberty or/and menstrual cycle +MONDO:0014148 estrogen resistance syndrome MONDO:0016072 Orphanet:785 Orphanet:202940 obsolete anomaly of puberty or/and menstrual cycle of genetic origin +MONDO:0014148 estrogen resistance syndrome MONDO:0018397 Orphanet:785 Orphanet:399831 obsolete female infertility due to hypothalamic-pituitary-gonadal axis disorder +MONDO:0014148 estrogen resistance syndrome MONDO:0018411 Orphanet:785 Orphanet:400011 obsolete rare female infertility due to hypothalamic-pituitary-gonadal axis disorder of genetic origin +MONDO:0014148 estrogen resistance syndrome MONDO:0020005 Orphanet:785 Orphanet:97978 obsolete rare endocrine disease +MONDO:0014157 mandibular hypoplasia-deafness-progeroid syndrome MONDO:0019589 Orphanet:363649 Orphanet:90642 obsolete syndromic genetic hearing loss +MONDO:0014157 mandibular hypoplasia-deafness-progeroid syndrome MONDO:0031689 Orphanet:363649 Orphanet:363245 obsolete genetic progeroid syndrome +MONDO:0014159 autosomal recessive spinocerebellar ataxia 14 MONDO:0035862 Orphanet:352403 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome +MONDO:0014162 infantile hypertrophic cardiomyopathy due to MRPL44 deficiency MONDO:0016327 Orphanet:352563 Orphanet:217587 obsolete mitochondrial disease with hypertrophic cardiomyopathy +MONDO:0014162 infantile hypertrophic cardiomyopathy due to MRPL44 deficiency MONDO:0018157 Orphanet:352563 Orphanet:35696 obsolete mitochondrial disorder due to a defect in mitochondrial protein synthesis +MONDO:0014165 multiple congenital anomalies-hypotonia-seizures syndrome 3 MONDO:0018292 Orphanet:369837 Orphanet:371195 obsolete congenital disorder of glycosylation-related bone disorder +MONDO:0014165 multiple congenital anomalies-hypotonia-seizures syndrome 3 MONDO:0035863 Orphanet:369837 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0014165 multiple congenital anomalies-hypotonia-seizures syndrome 3 MONDO:8000032 Orphanet:369837 Orphanet:377789 obsolete malformation syndrome +MONDO:0014176 hypotonia, infantile, with psychomotor retardation and characteristic facies MONDO:0015918 Orphanet:371364 Orphanet:182070 obsolete rare neurodegenerative disease +MONDO:0014176 hypotonia, infantile, with psychomotor retardation and characteristic facies MONDO:0035863 Orphanet:371364 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0014180 epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency MONDO:0035684 Orphanet:412181 Orphanet:595346 obsolete epidermolysis bullosa simplex without extracutaneous involvement +MONDO:0014185 chromosome 3q13.31 deletion syndrome MONDO:8000032 Orphanet:1621 Orphanet:377789 obsolete malformation syndrome +MONDO:0014190 combined oxidative phosphorylation defect type 17 MONDO:0016327 Orphanet:369913 Orphanet:217587 obsolete mitochondrial disease with hypertrophic cardiomyopathy +MONDO:0014190 combined oxidative phosphorylation defect type 17 MONDO:0018157 Orphanet:369913 Orphanet:35696 obsolete mitochondrial disorder due to a defect in mitochondrial protein synthesis +MONDO:0014196 Hartsfield-Bixler-Demyer syndrome MONDO:0015335 Orphanet:2117 Orphanet:139039 obsolete Mendelian syndromes with cleft lip/palate +MONDO:0014196 Hartsfield-Bixler-Demyer syndrome MONDO:0017120 Orphanet:2117 Orphanet:269531 obsolete other syndrome with a central nervous system malformation as major feature +MONDO:0014196 Hartsfield-Bixler-Demyer syndrome MONDO:0035863 Orphanet:2117 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0014196 Hartsfield-Bixler-Demyer syndrome MONDO:0800090 Orphanet:2117 Orphanet:498477 obsolete ectrodactyly with and without other manifestations +MONDO:0014196 Hartsfield-Bixler-Demyer syndrome MONDO:8000032 Orphanet:2117 Orphanet:377789 obsolete malformation syndrome +MONDO:0014200 aldosterone-producing adenoma with seizures and neurological abnormalities MONDO:0016507 Orphanet:369929 Orphanet:231637 obsolete rare surgically correctable form of primary aldosteronism +MONDO:0014205 severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome MONDO:0035863 Orphanet:352577 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0014206 severe early-onset pulmonary alveolar proteinosis due to MARS deficiency MONDO:0015052 Orphanet:440427 Orphanet:100049 obsolete primary interstitial lung disease specific to childhood due to pulmonary surfactant protein anomalies +MONDO:0014206 severe early-onset pulmonary alveolar proteinosis due to MARS deficiency MONDO:0015114 Orphanet:440427 Orphanet:101939 obsolete rare parenchymal liver disease +MONDO:0014206 severe early-onset pulmonary alveolar proteinosis due to MARS deficiency MONDO:0015508 Orphanet:440427 Orphanet:156604 obsolete hereditary parenchymatous liver disease +MONDO:0014208 Charcot-Marie-Tooth disease type 2R MONDO:0019601 Orphanet:397968 Orphanet:91024 obsolete autosomal recessive axonal hereditary motor and sensory neuropathy +MONDO:0014209 early-onset progressive neurodegeneration-blindness-ataxia-spasticity syndrome MONDO:0015918 Orphanet:352654 Orphanet:182070 obsolete rare neurodegenerative disease +MONDO:0014209 early-onset progressive neurodegeneration-blindness-ataxia-spasticity syndrome MONDO:0018609 Orphanet:352654 Orphanet:441434 obsolete syndromic hereditary optic neuropathy +MONDO:0014210 intellectual disability-hypotonia-spasticity-sleep disorder syndrome MONDO:0035862 Orphanet:356996 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome +MONDO:0014213 intellectual disability-feeding difficulties-developmental delay-microcephaly syndrome MONDO:0035863 Orphanet:363611 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0014218 severe dermatitis-multiple allergies-metabolic wasting syndrome MONDO:0019274 Orphanet:369992 Orphanet:79359 obsolete other epidermal disorder +MONDO:0014218 severe dermatitis-multiple allergies-metabolic wasting syndrome MONDO:0019275 Orphanet:369992 Orphanet:79360 obsolete other genetic epidermal disease +MONDO:0014218 severe dermatitis-multiple allergies-metabolic wasting syndrome MONDO:0020027 Orphanet:369992 Orphanet:98050 obsolete rare allergic disease +MONDO:0014221 triosephosphate isomerase deficiency MONDO:0016401 Orphanet:868 Orphanet:225696 obsolete energy metabolism disorder with epilepsy +MONDO:0014221 triosephosphate isomerase deficiency MONDO:0019058 Orphanet:868 Orphanet:68385 obsolete neurometabolic disease +MONDO:0014221 triosephosphate isomerase deficiency MONDO:0020106 Orphanet:868 Orphanet:98372 obsolete hemolytic anemia due to a disorder of glycolytic enzymes +MONDO:0014224 developmental delay with autism spectrum disorder and gait instability MONDO:0015878 Orphanet:329195 Orphanet:180772 obsolete rare disease with autism +MONDO:0014225 hemochromatosis type 5 MONDO:0015115 Orphanet:247790 Orphanet:101940 obsolete rare genetic metabolic liver disease +MONDO:0014226 idiopathic CD4 lymphocytopenia MONDO:0032011 Orphanet:228000 Orphanet:377790 obsolete biological anomaly +MONDO:0014227 hypopigmentation-punctate palmoplantar keratoderma syndrome MONDO:0017679 Orphanet:324561 Orphanet:308031 obsolete obsolete autosomal dominant disease associated with punctate palmoplantar keratoderma as a major feature +MONDO:0014238 severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome MONDO:0035863 Orphanet:391307 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0014238 severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome MONDO:8000032 Orphanet:391307 Orphanet:377789 obsolete malformation syndrome +MONDO:0014244 hereditary sensory and autonomic neuropathy type 7 MONDO:0015365 Orphanet:391397 Orphanet:140474 obsolete autosomal dominant hereditary sensory and autonomic neuropathy +MONDO:0014247 familial episodic pain syndrome with predominantly lower limb involvement MONDO:8000031 Orphanet:391392 Orphanet:557494 obsolete subtype of a disorder +MONDO:0014248 autism spectrum disorder - epilepsy - arthrogryposis syndrome MONDO:0015878 Orphanet:370943 Orphanet:180772 obsolete rare disease with autism +MONDO:0014248 autism spectrum disorder - epilepsy - arthrogryposis syndrome MONDO:0018287 Orphanet:370943 Orphanet:371071 obsolete congenital disorder of glycosylation with epilepsy as a major feature +MONDO:0014248 autism spectrum disorder - epilepsy - arthrogryposis syndrome MONDO:0018296 Orphanet:370943 Orphanet:371235 obsolete congenital disorder of glycosylation with developmental anomaly +MONDO:0014248 autism spectrum disorder - epilepsy - arthrogryposis syndrome MONDO:0035862 Orphanet:370943 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome +MONDO:0014250 familial hyperprolactinemia MONDO:0015889 Orphanet:397685 Orphanet:181384 obsolete rare hypothalamic or pituitary disease +MONDO:0014250 familial hyperprolactinemia MONDO:0015968 Orphanet:397685 Orphanet:183628 obsolete rare genetic hypothalamic or pituitary disease +MONDO:0014250 familial hyperprolactinemia MONDO:0018386 Orphanet:397685 Orphanet:399572 obsolete rare male infertility due to hypothalamic-pituitary-gonadal axis disorder +MONDO:0014250 familial hyperprolactinemia MONDO:0018397 Orphanet:397685 Orphanet:399831 obsolete female infertility due to hypothalamic-pituitary-gonadal axis disorder +MONDO:0014250 familial hyperprolactinemia MONDO:0018405 Orphanet:397685 Orphanet:399983 obsolete rare male infertility due to hypothalamic-pituitary-gonadal axis disorder of genetic origin +MONDO:0014250 familial hyperprolactinemia MONDO:0018411 Orphanet:397685 Orphanet:400011 obsolete rare female infertility due to hypothalamic-pituitary-gonadal axis disorder of genetic origin +MONDO:0014258 congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome MONDO:0018318 Orphanet:391376 Orphanet:391381 obsolete disorder of asparagine metabolism +MONDO:0014258 congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome MONDO:0019058 Orphanet:391376 Orphanet:68385 obsolete neurometabolic disease +MONDO:0014261 growth and developmental delay-hypotonia-vision impairment-lactic acidosis syndrome MONDO:0016799 Orphanet:391348 Orphanet:254822 obsolete mitochondrial oxidative phosphorylation disorder with no known mechanism +MONDO:0014261 growth and developmental delay-hypotonia-vision impairment-lactic acidosis syndrome MONDO:0019058 Orphanet:391348 Orphanet:68385 obsolete neurometabolic disease +MONDO:0014263 8q24.3 microdeletion syndrome MONDO:0015329 Orphanet:508488 Orphanet:139021 obsolete malformation syndrome with short stature +MONDO:0014263 8q24.3 microdeletion syndrome MONDO:0015506 Orphanet:508488 Orphanet:156532 obsolete rare syndrome with cardiac malformations +MONDO:0014263 8q24.3 microdeletion syndrome MONDO:0019721 Orphanet:508488 Orphanet:93547 obsolete syndromic renal or urinary tract malformation +MONDO:0014263 8q24.3 microdeletion syndrome MONDO:0026187 Orphanet:508488 Orphanet:183570 obsolete genetic malformation syndrome with short stature +MONDO:0014263 8q24.3 microdeletion syndrome MONDO:0035863 Orphanet:508488 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0014263 8q24.3 microdeletion syndrome MONDO:8000032 Orphanet:508488 Orphanet:377789 obsolete malformation syndrome +MONDO:0014270 STT3A-congenital disorder of glycosylation MONDO:0018287 Orphanet:370921 Orphanet:371071 obsolete congenital disorder of glycosylation with epilepsy as a major feature +MONDO:0014270 STT3A-congenital disorder of glycosylation MONDO:0035862 Orphanet:370921 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome +MONDO:0014271 STT3B-congenital disorder of glycosylation MONDO:0018287 Orphanet:370924 Orphanet:371071 obsolete congenital disorder of glycosylation with epilepsy as a major feature +MONDO:0014271 STT3B-congenital disorder of glycosylation MONDO:0035862 Orphanet:370924 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome +MONDO:0014272 palmoplantar keratoderma, Nagashima type MONDO:0020096 Orphanet:140966 Orphanet:98356 obsolete autosomal recessive isolated diffuse palmoplantar keratoderma +MONDO:0014272 palmoplantar keratoderma, Nagashima type MONDO:0027751 Orphanet:140966 Orphanet:250811 obsolete serpinopathy with loss of serpin function +MONDO:0014273 microcephaly-thin corpus callosum-intellectual disability syndrome MONDO:0035863 Orphanet:397951 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0014274 L-ferritin deficiency MONDO:0015549 Orphanet:440731 Orphanet:158300 obsolete rare genetic hematologic disease +MONDO:0014274 L-ferritin deficiency MONDO:0032011 Orphanet:440731 Orphanet:377790 obsolete biological anomaly +MONDO:0014282 hereditary spastic paraplegia 72 MONDO:0015088 Orphanet:401849 Orphanet:100980 obsolete autosomal dominant pure spastic paraplegia +MONDO:0014282 hereditary spastic paraplegia 72 MONDO:0015090 Orphanet:401849 Orphanet:100982 obsolete autosomal recessive pure spastic paraplegia +MONDO:0014289 macrocephaly-developmental delay syndrome MONDO:0035863 Orphanet:397612 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0014289 macrocephaly-developmental delay syndrome MONDO:8000032 Orphanet:397612 Orphanet:377789 obsolete malformation syndrome +MONDO:0014290 neurodegeneration with brain iron accumulation 6 MONDO:0035862 Orphanet:397725 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome +MONDO:0014294 chromosome 15q11.2 deletion syndrome MONDO:8000032 Orphanet:261183 Orphanet:377789 obsolete malformation syndrome +MONDO:0014295 hereditary spastic paraplegia 57 MONDO:0018550 Orphanet:431329 Orphanet:431320 obsolete spastic paraplegia-optic atrophy-neuropathy and spastic paraplegia-optic atrophy-neuropathy-related disorder +MONDO:0014298 chromosome 5q12 deletion syndrome MONDO:0035863 Orphanet:439822 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0014298 chromosome 5q12 deletion syndrome MONDO:8000032 Orphanet:439822 Orphanet:377789 obsolete malformation syndrome +MONDO:0014300 proximal myopathy with extrapyramidal signs MONDO:0015918 Orphanet:401768 Orphanet:182070 obsolete rare neurodegenerative disease +MONDO:0014300 proximal myopathy with extrapyramidal signs MONDO:0016110 Orphanet:401768 Orphanet:206656 obsolete non-dystrophic myopathy +MONDO:0014300 proximal myopathy with extrapyramidal signs MONDO:0017641 Orphanet:401768 Orphanet:306695 obsolete miscellaneous movement disorder due to neurodegenerative disease +MONDO:0014300 proximal myopathy with extrapyramidal signs MONDO:0017662 Orphanet:401768 Orphanet:307058 obsolete miscellaneous movement disorder due to genetic neurodegenerative disease +MONDO:0014300 proximal myopathy with extrapyramidal signs MONDO:0035862 Orphanet:401768 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome +MONDO:0014302 hereditary spastic paraplegia 62 MONDO:0015090 Orphanet:401785 Orphanet:100982 obsolete autosomal recessive pure spastic paraplegia +MONDO:0014303 hereditary spastic paraplegia 64 MONDO:0015089 Orphanet:401810 Orphanet:100981 obsolete autosomal recessive complex spastic paraplegia +MONDO:0014303 hereditary spastic paraplegia 64 MONDO:0035862 Orphanet:401810 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome +MONDO:0014304 hereditary spastic paraplegia 61 MONDO:0015089 Orphanet:401780 Orphanet:100981 obsolete autosomal recessive complex spastic paraplegia +MONDO:0014305 hereditary spastic paraplegia 63 MONDO:0015089 Orphanet:401805 Orphanet:100981 obsolete autosomal recessive complex spastic paraplegia +MONDO:0014306 vasculitis due to ADA2 deficiency MONDO:0015489 Orphanet:404553 Orphanet:156143 obsolete predominantly medium-vessel vasculitis +MONDO:0014306 vasculitis due to ADA2 deficiency MONDO:0015710 Orphanet:404553 Orphanet:169361 obsolete immune dysregulation disease with immunodeficiency +MONDO:0014306 vasculitis due to ADA2 deficiency MONDO:0016517 Orphanet:404553 Orphanet:233655 obsolete rare genetic vascular disease +MONDO:0014306 vasculitis due to ADA2 deficiency MONDO:0018782 Orphanet:404553 Orphanet:477647 obsolete type 1 interferonopathy +MONDO:0014309 obesity due to CEP19 deficiency MONDO:0020075 Orphanet:397615 Orphanet:98267 obsolete hereditary non-syndromic obesity +MONDO:0014309 obesity due to CEP19 deficiency MONDO:8000031 Orphanet:397615 Orphanet:557494 obsolete subtype of a disorder +MONDO:0014310 hereditary sclerosing poikiloderma with tendon and pulmonary involvement MONDO:0016110 Orphanet:221043 Orphanet:206656 obsolete non-dystrophic myopathy +MONDO:0014310 hereditary sclerosing poikiloderma with tendon and pulmonary involvement MONDO:0017027 Orphanet:221043 Orphanet:264740 obsolete primary interstitial lung disease specific to adulthood +MONDO:0014310 hereditary sclerosing poikiloderma with tendon and pulmonary involvement MONDO:0028569 Orphanet:221043 Orphanet:264992 obsolete genetic interstitial lung disease +MONDO:0014313 autosomal recessive primary immunodeficiency with defective spontaneous natural killer cell cytotoxicity MONDO:0018545 Orphanet:437552 Orphanet:431156 obsolete primary immunodeficiency with predisposition to severe viral infection +MONDO:0014314 sacral agenesis-abnormal ossification of the vertebral bodies-persistent notochordal canal syndrome MONDO:0017085 Orphanet:397927 Orphanet:268843 obsolete malformation of the neurenteric canal, spinal cord and column +MONDO:0014314 sacral agenesis-abnormal ossification of the vertebral bodies-persistent notochordal canal syndrome MONDO:8000032 Orphanet:397927 Orphanet:377789 obsolete malformation syndrome +MONDO:0014320 Bosch-Boonstra-Schaaf optic atrophy syndrome MONDO:0018609 Orphanet:401777 Orphanet:441434 obsolete syndromic hereditary optic neuropathy +MONDO:0014320 Bosch-Boonstra-Schaaf optic atrophy syndrome MONDO:0035862 Orphanet:401777 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome +MONDO:0014327 palmoplantar keratoderma, nonepidermolytic, focal or diffuse MONDO:0017673 Orphanet:402003 Orphanet:307846 obsolete isolated focal palmoplantar keratoderma +MONDO:0014331 Moyamoya disease with early-onset achalasia MONDO:0015111 Orphanet:401945 Orphanet:101936 obsolete gastroesophageal disease +MONDO:0014331 Moyamoya disease with early-onset achalasia MONDO:0015617 Orphanet:401945 Orphanet:165658 obsolete hereditary gastro-esophageal disease +MONDO:0014331 Moyamoya disease with early-onset achalasia MONDO:0018792 Orphanet:401945 Orphanet:477771 obsolete Moyamoya syndrome +MONDO:0014335 diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome MONDO:0015655 Orphanet:404437 Orphanet:166478 obsolete cerebral malformation with epilepsy +MONDO:0014335 diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome MONDO:0017119 Orphanet:404437 Orphanet:269528 obsolete syndrome with microcephaly as major feature +MONDO:0014335 diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome MONDO:8000032 Orphanet:404437 Orphanet:377789 obsolete malformation syndrome +MONDO:0014336 intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency MONDO:0035863 Orphanet:404440 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0014336 intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency MONDO:8000032 Orphanet:404440 Orphanet:377789 obsolete malformation syndrome +MONDO:0014338 IL21-related infantile inflammatory bowel disease MONDO:0015187 Orphanet:477661 Orphanet:104012 obsolete rare inflammatory bowel disease +MONDO:0014338 IL21-related infantile inflammatory bowel disease MONDO:0015616 Orphanet:477661 Orphanet:165655 obsolete rare genetic intestinal disease +MONDO:0014339 autosomal recessive spinocerebellar ataxia 16 MONDO:0035862 Orphanet:412057 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome +MONDO:0014342 female infertility due to zona pellucida defect MONDO:0018444 Orphanet:404466 Orphanet:404469 obsolete female infertility due to fertilization defect +MONDO:0014349 pontocerebellar hypoplasia type 10 MONDO:0035863 Orphanet:411493 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0014349 pontocerebellar hypoplasia type 10 MONDO:8000032 Orphanet:411493 Orphanet:377789 obsolete malformation syndrome +MONDO:0014351 pontocerebellar hypoplasia type 9 MONDO:8000032 Orphanet:369920 Orphanet:377789 obsolete malformation syndrome +MONDO:0014353 immunodeficiency 23 MONDO:0035862 Orphanet:443811 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome +MONDO:0014358 AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome MONDO:0035862 Orphanet:412069 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome +MONDO:0014358 AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome MONDO:8000032 Orphanet:412069 Orphanet:377789 obsolete malformation syndrome +MONDO:0014361 autism spectrum disorder due to AUTS2 deficiency MONDO:0015878 Orphanet:352490 Orphanet:180772 obsolete rare disease with autism +MONDO:0014361 autism spectrum disorder due to AUTS2 deficiency MONDO:0035863 Orphanet:352490 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0014369 postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome MONDO:0017434 Orphanet:420584 Orphanet:294959 obsolete syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy +MONDO:0014369 postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome MONDO:0019827 Orphanet:420584 Orphanet:95495 obsolete disease associated with non-acquired combined pituitary hormone deficiency +MONDO:0014369 postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome MONDO:8000032 Orphanet:420584 Orphanet:377789 obsolete malformation syndrome +MONDO:0014371 developmental and epileptic encephalopathy, 23 MONDO:0034962 Orphanet:411986 Orphanet:519343 obsolete rare ophthalmic disorder with cortical involvement +MONDO:0014371 developmental and epileptic encephalopathy, 23 MONDO:0035863 Orphanet:411986 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0014371 developmental and epileptic encephalopathy, 23 MONDO:8000032 Orphanet:411986 Orphanet:377789 obsolete malformation syndrome +MONDO:0014375 congenital diarrhea 7 with exudative enteropathy MONDO:0019126 Orphanet:329242 Orphanet:73014 obsolete intractable diarrhea of infancy +MONDO:0014375 congenital diarrhea 7 with exudative enteropathy MONDO:0031697 Orphanet:329242 Orphanet:363300 obsolete genetic intractable diarrhea of infancy +MONDO:0014379 ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder MONDO:0035863 Orphanet:404448 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0014379 ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder MONDO:8000032 Orphanet:404448 Orphanet:377789 obsolete malformation syndrome +MONDO:0014380 colobomatous microphthalmia-rhizomelic dysplasia syndrome MONDO:0015329 Orphanet:424099 Orphanet:139021 obsolete malformation syndrome with short stature +MONDO:0014380 colobomatous microphthalmia-rhizomelic dysplasia syndrome MONDO:0019697 Orphanet:424099 Orphanet:93438 obsolete mesomelic and rhizo-mesomelic dysplasia +MONDO:0014380 colobomatous microphthalmia-rhizomelic dysplasia syndrome MONDO:0026187 Orphanet:424099 Orphanet:183570 obsolete genetic malformation syndrome with short stature +MONDO:0014380 colobomatous microphthalmia-rhizomelic dysplasia syndrome MONDO:8000032 Orphanet:424099 Orphanet:377789 obsolete malformation syndrome +MONDO:0014381 cholestasis, progressive familial intrahepatic, 4 MONDO:8000031 Orphanet:480483 Orphanet:557494 obsolete subtype of a disorder +MONDO:0014382 Tatton-Brown-Rahman overgrowth syndrome MONDO:0035863 Orphanet:404443 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0014382 Tatton-Brown-Rahman overgrowth syndrome MONDO:8000032 Orphanet:404443 Orphanet:377789 obsolete malformation syndrome +MONDO:0014386 platelet-type bleeding disorder 18 MONDO:0017142 Orphanet:420566 Orphanet:275736 obsolete hemorrhagic disorder due to a qualitative platelet defect +MONDO:0014388 familial median cleft of the upper and lower lips MONDO:0015412 Orphanet:401942 Orphanet:141234 obsolete median facial cleft +MONDO:0014388 familial median cleft of the upper and lower lips MONDO:0033056 Orphanet:401942 Orphanet:414726 obsolete genetic facial cleft +MONDO:0014388 familial median cleft of the upper and lower lips MONDO:8000032 Orphanet:401942 Orphanet:377789 obsolete malformation syndrome +MONDO:0014389 polyglucosan body myopathy 1 with or without immunodeficiency MONDO:0016118 Orphanet:397937 Orphanet:206959 obsolete muscular glycogenosis +MONDO:0014389 polyglucosan body myopathy 1 with or without immunodeficiency MONDO:0016334 Orphanet:397937 Orphanet:217610 obsolete neuromuscular disease with dilated cardiomyopathy +MONDO:0014389 polyglucosan body myopathy 1 with or without immunodeficiency MONDO:0019058 Orphanet:397937 Orphanet:68385 obsolete neurometabolic disease +MONDO:0014397 combined oxidative phosphorylation defect type 20 MONDO:0018157 Orphanet:420728 Orphanet:35696 obsolete mitochondrial disorder due to a defect in mitochondrial protein synthesis +MONDO:0014397 combined oxidative phosphorylation defect type 20 MONDO:0019058 Orphanet:420728 Orphanet:68385 obsolete neurometabolic disease +MONDO:0014398 combined oxidative phosphorylation defect type 21 MONDO:0018157 Orphanet:420733 Orphanet:35696 obsolete mitochondrial disorder due to a defect in mitochondrial protein synthesis +MONDO:0014398 combined oxidative phosphorylation defect type 21 MONDO:0019058 Orphanet:420733 Orphanet:68385 obsolete neurometabolic disease +MONDO:0014399 ataxia-telangiectasia-like disorder 2 MONDO:0015331 Orphanet:438134 Orphanet:139027 obsolete malformation syndrome with skin/mucosae involvement +MONDO:0014399 ataxia-telangiectasia-like disorder 2 MONDO:0015918 Orphanet:438134 Orphanet:182070 obsolete rare neurodegenerative disease +MONDO:0014399 ataxia-telangiectasia-like disorder 2 MONDO:0015945 Orphanet:438134 Orphanet:183422 obsolete polymalformative genetic syndrome with increased risk of developing cancer +MONDO:0014399 ataxia-telangiectasia-like disorder 2 MONDO:0019589 Orphanet:438134 Orphanet:90642 obsolete syndromic genetic hearing loss +MONDO:0014399 ataxia-telangiectasia-like disorder 2 MONDO:0031689 Orphanet:438134 Orphanet:363245 obsolete genetic progeroid syndrome +MONDO:0014399 ataxia-telangiectasia-like disorder 2 MONDO:0035862 Orphanet:438134 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome +MONDO:0014401 tall stature-scoliosis-macrodactyly of the great toes syndrome MONDO:0019711 Orphanet:329191 Orphanet:93454 obsolete dysostosis with predominant vertebral and costal involvement +MONDO:0014401 tall stature-scoliosis-macrodactyly of the great toes syndrome MONDO:0800091 Orphanet:329191 Orphanet:498448 obsolete overgrowth or tall stature syndrome with skeletal involvement +MONDO:0014402 severe neurodegenerative syndrome with lipodystrophy MONDO:0015918 Orphanet:363400 Orphanet:182070 obsolete rare neurodegenerative disease +MONDO:0014405 STING-associated vasculopathy with onset in infancy MONDO:0015118 Orphanet:425120 Orphanet:101944 obsolete rare pulmonary disease +MONDO:0014405 STING-associated vasculopathy with onset in infancy MONDO:0015490 Orphanet:425120 Orphanet:156146 obsolete predominantly small-vessel vasculitis +MONDO:0014405 STING-associated vasculopathy with onset in infancy MONDO:0015510 Orphanet:425120 Orphanet:156610 obsolete rare genetic respiratory disease +MONDO:0014405 STING-associated vasculopathy with onset in infancy MONDO:0015710 Orphanet:425120 Orphanet:169361 obsolete immune dysregulation disease with immunodeficiency +MONDO:0014405 STING-associated vasculopathy with onset in infancy MONDO:0016517 Orphanet:425120 Orphanet:233655 obsolete rare genetic vascular disease +MONDO:0014405 STING-associated vasculopathy with onset in infancy MONDO:0017370 Orphanet:425120 Orphanet:290842 obsolete autoinflammatory syndrome with skin involvement +MONDO:0014405 STING-associated vasculopathy with onset in infancy MONDO:0018782 Orphanet:425120 Orphanet:477647 obsolete type 1 interferonopathy +MONDO:0014412 hyperlipoproteinemia, type 1D MONDO:8000031 Orphanet:535458 Orphanet:557494 obsolete subtype of a disorder +MONDO:0014413 orofaciodigital syndrome type 14 MONDO:0017119 Orphanet:434179 Orphanet:269528 obsolete syndrome with microcephaly as major feature +MONDO:0014413 orofaciodigital syndrome type 14 MONDO:0035863 Orphanet:434179 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0014413 orofaciodigital syndrome type 14 MONDO:8000032 Orphanet:434179 Orphanet:377789 obsolete malformation syndrome +MONDO:0014414 STAT3-related early-onset multisystem autoimmune disease MONDO:0015939 Orphanet:438159 Orphanet:182228 obsolete systemic autoimmune disease +MONDO:0014417 spinocerebellar ataxia type 38 MONDO:0018118 Orphanet:423296 Orphanet:352306 obsolete disorder of phospholipids, sphingolipids and fatty acids biosynthesis with central nervous system predominant involvement +MONDO:0014419 ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome MONDO:0017118 Orphanet:370022 Orphanet:269523 obsolete syndrome with a cerebellar malformation as major feature +MONDO:0014419 ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome MONDO:0020258 Orphanet:370022 Orphanet:98688 obsolete oculomotor apraxia or related oculomotor disease +MONDO:0014419 ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome MONDO:0035862 Orphanet:370022 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome +MONDO:0014421 glucocorticoid resistance MONDO:0019593 Orphanet:786 Orphanet:90776 obsolete 46,XX disorder of sex development induced by fetal androgens excess +MONDO:0014424 obsolete congenital deficiency in alpha-fetoprotein MONDO:0018652 Orphanet:168612 Orphanet:447874 obsolete biological anomaly without phenotypic characterization +MONDO:0014424 obsolete congenital deficiency in alpha-fetoprotein MONDO:0032011 Orphanet:168612 Orphanet:377790 obsolete biological anomaly +MONDO:0014425 obsolete hereditary persistence of alpha-fetoprotein MONDO:0018652 Orphanet:168615 Orphanet:447874 obsolete biological anomaly without phenotypic characterization +MONDO:0014425 obsolete hereditary persistence of alpha-fetoprotein MONDO:0032011 Orphanet:168615 Orphanet:377790 obsolete biological anomaly +MONDO:0014429 autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency MONDO:0017899 Orphanet:319581 Orphanet:319543 obsolete autosomal dominant mendelian susceptibility to mycobacterial diseases due to a partial deficiency +MONDO:0014449 congenital analbuminemia MONDO:0015549 Orphanet:86816 Orphanet:158300 obsolete rare genetic hematologic disease +MONDO:0014452 familial dysfibrinogenemia MONDO:8000031 Orphanet:98881 Orphanet:557494 obsolete subtype of a disorder +MONDO:0014455 cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome MONDO:0016133 Orphanet:436174 Orphanet:207018 obsolete rare hereditary metabolic disease with peripheral neuropathy +MONDO:0014455 cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome MONDO:0018157 Orphanet:436174 Orphanet:35696 obsolete mitochondrial disorder due to a defect in mitochondrial protein synthesis +MONDO:0014455 cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome MONDO:0019058 Orphanet:436174 Orphanet:68385 obsolete neurometabolic disease +MONDO:0014455 cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome MONDO:0019589 Orphanet:436174 Orphanet:90642 obsolete syndromic genetic hearing loss +MONDO:0014455 cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome MONDO:0019590 Orphanet:436174 Orphanet:90692 obsolete rare endocrine growth disease +MONDO:0014455 cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome MONDO:0020225 Orphanet:436174 Orphanet:98641 obsolete syndromic cataract +MONDO:0014460 nail and teeth abnormalities-marginal palmoplantar keratoderma-oral hyperpigmentation syndrome MONDO:0020097 Orphanet:423454 Orphanet:98357 obsolete autosomal recessive disease with focal palmoplantar keratoderma as a major feature +MONDO:0014464 progressive encephalopathy with leukodystrophy due to DECR deficiency MONDO:0018118 Orphanet:431361 Orphanet:352306 obsolete disorder of phospholipids, sphingolipids and fatty acids biosynthesis with central nervous system predominant involvement +MONDO:0014464 progressive encephalopathy with leukodystrophy due to DECR deficiency MONDO:0019058 Orphanet:431361 Orphanet:68385 obsolete neurometabolic disease +MONDO:0014466 Neu-Laxova syndrome 2 MONDO:8000031 Orphanet:583602 Orphanet:557494 obsolete subtype of a disorder +MONDO:0014467 Charcot-Marie-Tooth disease recessive intermediate D MONDO:0016578 Orphanet:435998 Orphanet:2443 obsolete mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies +MONDO:0014471 mitochondrial proton-transporting ATP synthase complex deficiency MONDO:0016805 Orphanet:254913 Orphanet:254846 obsolete isolated oxidative phosphorylation complex disorder +MONDO:0014472 periodic fever-infantile enterocolitis-autoinflammatory syndrome MONDO:0015245 Orphanet:436166 Orphanet:117569 obsolete rare intestinal disease +MONDO:0014472 periodic fever-infantile enterocolitis-autoinflammatory syndrome MONDO:0017370 Orphanet:436166 Orphanet:290842 obsolete autoinflammatory syndrome with skin involvement +MONDO:0014474 autosomal recessive limb-girdle muscular dystrophy type 2U MONDO:0017745 Orphanet:352479 Orphanet:309469 obsolete disorder of O-mannosylglycan synthesis +MONDO:0014474 autosomal recessive limb-girdle muscular dystrophy type 2U MONDO:0018284 Orphanet:352479 Orphanet:371047 obsolete congenital disorder of glycosylation with neurological involvement +MONDO:0014474 autosomal recessive limb-girdle muscular dystrophy type 2U MONDO:0035862 Orphanet:352479 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome +MONDO:0014483 retinal dystrophy with inner retinal dysfunction and ganglion cell anomalies MONDO:0034953 Orphanet:397758 Orphanet:519325 obsolete syndromic inherited retinal disorder +MONDO:0014487 congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome MONDO:0018041 Orphanet:369861 Orphanet:331244 obsolete other immunodeficiency syndrome with predominantly antibody defects +MONDO:0014489 limb-girdle muscular dystrophy due to POMK deficiency MONDO:0017745 Orphanet:445110 Orphanet:309469 obsolete disorder of O-mannosylglycan synthesis +MONDO:0014489 limb-girdle muscular dystrophy due to POMK deficiency MONDO:0019058 Orphanet:445110 Orphanet:68385 obsolete neurometabolic disease +MONDO:0014490 ketoacidosis due to monocarboxylate transporter-1 deficiency MONDO:0018579 Orphanet:438075 Orphanet:438072 obsolete disorder of ketone body transport +MONDO:0014492 wooly hair-palmoplantar keratoderma syndrome MONDO:0018558 Orphanet:420686 Orphanet:434809 obsolete syndrome with wooly hair +MONDO:0014492 wooly hair-palmoplantar keratoderma syndrome MONDO:0020097 Orphanet:420686 Orphanet:98357 obsolete autosomal recessive disease with focal palmoplantar keratoderma as a major feature +MONDO:0014495 retinitis pigmentosa-juvenile cataract-short stature-intellectual disability syndrome MONDO:0020240 Orphanet:436245 Orphanet:98661 obsolete syndromic retinitis pigmentosa +MONDO:0014495 retinitis pigmentosa-juvenile cataract-short stature-intellectual disability syndrome MONDO:0035863 Orphanet:436245 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0014497 polyendocrine-polyneuropathy syndrome MONDO:0015361 Orphanet:453533 Orphanet:140459 obsolete autosomal recessive hereditary demyelinating motor and sensory neuropathy +MONDO:0014497 polyendocrine-polyneuropathy syndrome MONDO:0015778 Orphanet:453533 Orphanet:177107 obsolete syndromic hypothyroidism +MONDO:0014497 polyendocrine-polyneuropathy syndrome MONDO:0015888 Orphanet:453533 Orphanet:181381 obsolete other rare diabetes mellitus +MONDO:0014497 polyendocrine-polyneuropathy syndrome MONDO:0015890 Orphanet:453533 Orphanet:181387 obsolete rare disorder with congenital hypogonadotropic hypogonadism +MONDO:0014497 polyendocrine-polyneuropathy syndrome MONDO:0035862 Orphanet:453533 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome +MONDO:0014498 familial cold autoinflammatory syndrome 4 MONDO:0017370 Orphanet:576349 Orphanet:290842 obsolete autoinflammatory syndrome with skin involvement +MONDO:0014500 atrial conduction disease MONDO:0015110 Orphanet:436242 Orphanet:101934 obsolete genetic cardiac rhythm disease +MONDO:0014502 Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency MONDO:0017897 Orphanet:319563 Orphanet:319535 obsolete autosomal recessive mendelian susceptibility to mycobacterial diseases due to a complete deficiency +MONDO:0014502 Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency MONDO:0018782 Orphanet:319563 Orphanet:477647 obsolete type 1 interferonopathy +MONDO:0014503 autosomal recessive spinocerebellar ataxia 17 MONDO:0035862 Orphanet:453521 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome +MONDO:0014506 hypomyelinating leukodystrophy 9 MONDO:0035862 Orphanet:438114 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome +MONDO:0014507 Catel-Manzke syndrome MONDO:0015335 Orphanet:1388 Orphanet:139039 obsolete Mendelian syndromes with cleft lip/palate +MONDO:0014507 Catel-Manzke syndrome MONDO:0017434 Orphanet:1388 Orphanet:294959 obsolete syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy +MONDO:0014507 Catel-Manzke syndrome MONDO:0035863 Orphanet:1388 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0014507 Catel-Manzke syndrome MONDO:8000032 Orphanet:1388 Orphanet:377789 obsolete malformation syndrome +MONDO:0014510 fatty acyl-CoA reductase 1 deficiency MONDO:0016398 Orphanet:438178 Orphanet:225686 obsolete peroxisomal disease with epilepsy +MONDO:0014510 fatty acyl-CoA reductase 1 deficiency MONDO:0019058 Orphanet:438178 Orphanet:68385 obsolete neurometabolic disease +MONDO:0014510 fatty acyl-CoA reductase 1 deficiency MONDO:0020228 Orphanet:438178 Orphanet:98644 obsolete cataract associated with a metabolic disease +MONDO:0014510 fatty acyl-CoA reductase 1 deficiency MONDO:0035862 Orphanet:438178 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome +MONDO:0014511 Charcot-Marie-Tooth disease axonal type 2S MONDO:0019601 Orphanet:443073 Orphanet:91024 obsolete autosomal recessive axonal hereditary motor and sensory neuropathy +MONDO:0014512 PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation MONDO:0018580 Orphanet:438216 Orphanet:438213 obsolete PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome +MONDO:0014512 PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation MONDO:8000031 Orphanet:438216 Orphanet:557494 obsolete subtype of a disorder +MONDO:0014518 platelet-type bleeding disorder 19 MONDO:0016361 Orphanet:438207 Orphanet:220452 obsolete isolated hereditary giant platelet disorder +MONDO:0014520 46,XX ovarian dysgenesis-short stature syndrome MONDO:0017961 Orphanet:444048 Orphanet:325055 obsolete 46,XX disorder of gonadal development +MONDO:0014520 46,XX ovarian dysgenesis-short stature syndrome MONDO:0018402 Orphanet:444048 Orphanet:399877 obsolete female infertility due to gonadal dysgenesis +MONDO:0014520 46,XX ovarian dysgenesis-short stature syndrome MONDO:0020038 Orphanet:444048 Orphanet:98074 obsolete gonadal dysgenesis of gynecological interest +MONDO:0014520 46,XX ovarian dysgenesis-short stature syndrome MONDO:0034443 Orphanet:444048 Orphanet:485382 obsolete genetic non-acquired premature ovarian failure +MONDO:0014523 juvenile-onset diabetes mellitus-central and peripheral neurodegeneration syndrome MONDO:0015888 Orphanet:445062 Orphanet:181381 obsolete other rare diabetes mellitus +MONDO:0014523 juvenile-onset diabetes mellitus-central and peripheral neurodegeneration syndrome MONDO:0019589 Orphanet:445062 Orphanet:90642 obsolete syndromic genetic hearing loss +MONDO:0014525 combined oxidative phosphorylation defect type 23 MONDO:0016327 Orphanet:444013 Orphanet:217587 obsolete mitochondrial disease with hypertrophic cardiomyopathy +MONDO:0014525 combined oxidative phosphorylation defect type 23 MONDO:0018157 Orphanet:444013 Orphanet:35696 obsolete mitochondrial disorder due to a defect in mitochondrial protein synthesis +MONDO:0014525 combined oxidative phosphorylation defect type 23 MONDO:0019058 Orphanet:444013 Orphanet:68385 obsolete neurometabolic disease +MONDO:0014525 combined oxidative phosphorylation defect type 23 MONDO:0035862 Orphanet:444013 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome +MONDO:0014526 polyglucosan body myopathy type 2 MONDO:0016118 Orphanet:456369 Orphanet:206959 obsolete muscular glycogenosis +MONDO:0014526 polyglucosan body myopathy type 2 MONDO:0019058 Orphanet:456369 Orphanet:68385 obsolete neurometabolic disease +MONDO:0014527 progeroid features-hepatocellular carcinoma predisposition syndrome MONDO:0031689 Orphanet:435953 Orphanet:363245 obsolete genetic progeroid syndrome +MONDO:0014528 chronic atrial and intestinal dysrhythmia MONDO:0015110 Orphanet:435988 Orphanet:101934 obsolete genetic cardiac rhythm disease +MONDO:0014528 chronic atrial and intestinal dysrhythmia MONDO:0015245 Orphanet:435988 Orphanet:117569 obsolete rare intestinal disease +MONDO:0014528 chronic atrial and intestinal dysrhythmia MONDO:0015616 Orphanet:435988 Orphanet:165655 obsolete rare genetic intestinal disease +MONDO:0014529 cerebellar-facial-dental syndrome MONDO:0015603 Orphanet:444072 Orphanet:164001 obsolete rare odontal or periodontal disorder +MONDO:0014529 cerebellar-facial-dental syndrome MONDO:0017118 Orphanet:444072 Orphanet:269523 obsolete syndrome with a cerebellar malformation as major feature +MONDO:0014529 cerebellar-facial-dental syndrome MONDO:0018488 Orphanet:444072 Orphanet:420755 obsolete rare genetic odontal or periodontal disorder +MONDO:0014529 cerebellar-facial-dental syndrome MONDO:0035863 Orphanet:444072 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0014529 cerebellar-facial-dental syndrome MONDO:8000032 Orphanet:444072 Orphanet:377789 obsolete malformation syndrome +MONDO:0014530 autosomal recessive spinocerebellar ataxia 18 MONDO:0035862 Orphanet:363432 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome +MONDO:0014530 autosomal recessive spinocerebellar ataxia 18 MONDO:8000031 Orphanet:363432 Orphanet:557494 obsolete subtype of a disorder +MONDO:0014532 autosomal dominant mitochondrial myopathy with exercise intolerance MONDO:0016799 Orphanet:457050 Orphanet:254822 obsolete mitochondrial oxidative phosphorylation disorder with no known mechanism +MONDO:0014532 autosomal dominant mitochondrial myopathy with exercise intolerance MONDO:0019058 Orphanet:457050 Orphanet:68385 obsolete neurometabolic disease +MONDO:0014541 motor developmental delay due to 14q32.2 paternally expressed gene defect MONDO:0016565 Orphanet:254516 Orphanet:240371 obsolete syndromic genetic obesity +MONDO:0014541 motor developmental delay due to 14q32.2 paternally expressed gene defect MONDO:0035863 Orphanet:254516 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0014541 motor developmental delay due to 14q32.2 paternally expressed gene defect MONDO:8000032 Orphanet:254516 Orphanet:377789 obsolete malformation syndrome +MONDO:0014545 progressive myoclonic epilepsy type 8 MONDO:0018118 Orphanet:424027 Orphanet:352306 obsolete disorder of phospholipids, sphingolipids and fatty acids biosynthesis with central nervous system predominant involvement +MONDO:0014547 combined oxidative phosphorylation defect type 24 MONDO:0018157 Orphanet:444458 Orphanet:35696 obsolete mitochondrial disorder due to a defect in mitochondrial protein synthesis +MONDO:0014552 lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome MONDO:0015620 Orphanet:439897 Orphanet:165707 obsolete syndromic urogenital tract malformation +MONDO:0014552 lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome MONDO:0017118 Orphanet:439897 Orphanet:269523 obsolete syndrome with a cerebellar malformation as major feature +MONDO:0014552 lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome MONDO:0017119 Orphanet:439897 Orphanet:269528 obsolete syndrome with microcephaly as major feature +MONDO:0014552 lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome MONDO:0019721 Orphanet:439897 Orphanet:93547 obsolete syndromic renal or urinary tract malformation +MONDO:0014552 lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome MONDO:0022409 Orphanet:439897 Orphanet:156162 obsolete nephropathy-associated ciliopathy +MONDO:0014552 lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome MONDO:8000032 Orphanet:439897 Orphanet:377789 obsolete malformation syndrome +MONDO:0014555 peeling skin syndrome type A MONDO:8000031 Orphanet:263548 Orphanet:557494 obsolete subtype of a disorder +MONDO:0014556 congenital contractures of the limbs and face, hypotonia, and developmental delay MONDO:0035863 Orphanet:562528 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0014556 congenital contractures of the limbs and face, hypotonia, and developmental delay MONDO:8000032 Orphanet:562528 Orphanet:377789 obsolete malformation syndrome +MONDO:0014557 ataxia - oculomotor apraxia type 4 MONDO:0018265 Orphanet:459033 Orphanet:370106 obsolete rare disorder with dystonia and other neurologic or systemic manifestation +MONDO:0014557 ataxia - oculomotor apraxia type 4 MONDO:0020258 Orphanet:459033 Orphanet:98688 obsolete oculomotor apraxia or related oculomotor disease +MONDO:0014558 autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome MONDO:0015506 Orphanet:457193 Orphanet:156532 obsolete rare syndrome with cardiac malformations +MONDO:0014558 autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome MONDO:0035863 Orphanet:457193 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0014558 autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome MONDO:8000032 Orphanet:457193 Orphanet:377789 obsolete malformation syndrome +MONDO:0014559 progressive essential tremor-speech impairment-facial dysmorphism-intellectual disability-abnormal behavior syndrome MONDO:0017644 Orphanet:457212 Orphanet:306712 obsolete rare tremor disorder +MONDO:0014559 progressive essential tremor-speech impairment-facial dysmorphism-intellectual disability-abnormal behavior syndrome MONDO:0017663 Orphanet:457212 Orphanet:307061 obsolete inherited tremor disorder +MONDO:0014559 progressive essential tremor-speech impairment-facial dysmorphism-intellectual disability-abnormal behavior syndrome MONDO:0035863 Orphanet:457212 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0014561 3-methylglutaconic aciduria, type VIIB MONDO:0019058 Orphanet:445038 Orphanet:68385 obsolete neurometabolic disease +MONDO:0014561 3-methylglutaconic aciduria, type VIIB MONDO:0020228 Orphanet:445038 Orphanet:98644 obsolete cataract associated with a metabolic disease +MONDO:0014561 3-methylglutaconic aciduria, type VIIB MONDO:0035862 Orphanet:445038 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome +MONDO:0014562 neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome MONDO:0016327 Orphanet:457185 Orphanet:217587 obsolete mitochondrial disease with hypertrophic cardiomyopathy +MONDO:0014567 glutamate pyruvate transaminase 2 deficiency MONDO:0015089 Orphanet:477673 Orphanet:100981 obsolete autosomal recessive complex spastic paraplegia +MONDO:0014567 glutamate pyruvate transaminase 2 deficiency MONDO:0035862 Orphanet:477673 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome +MONDO:0014568 hereditary spastic paraplegia 73 MONDO:0015088 Orphanet:444099 Orphanet:100980 obsolete autosomal dominant pure spastic paraplegia +MONDO:0014572 Lichtenstein-Knorr syndrome MONDO:0019589 Orphanet:448251 Orphanet:90642 obsolete syndromic genetic hearing loss +MONDO:0014574 peeling skin-leukonuchia-acral punctate keratoses-cheilitis-knuckle pads syndrome MONDO:0016518 Orphanet:444138 Orphanet:2338 obsolete isolated punctate palmoplantar keratoderma +MONDO:0014574 peeling skin-leukonuchia-acral punctate keratoses-cheilitis-knuckle pads syndrome MONDO:0017262 Orphanet:444138 Orphanet:281082 obsolete inherited non-syndromic ichthyosis +MONDO:0014601 autosomal recessive spinocerebellar ataxia 20 MONDO:0017118 Orphanet:397709 Orphanet:269523 obsolete syndrome with a cerebellar malformation as major feature +MONDO:0014601 autosomal recessive spinocerebellar ataxia 20 MONDO:0035863 Orphanet:397709 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0014601 autosomal recessive spinocerebellar ataxia 20 MONDO:8000032 Orphanet:397709 Orphanet:377789 obsolete malformation syndrome +MONDO:0014602 intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome MONDO:0035863 Orphanet:457279 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0014602 intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome MONDO:8000032 Orphanet:457279 Orphanet:377789 obsolete malformation syndrome +MONDO:0014605 microcephaly-corpus callosum hypoplasia-intellectual disability-facial dysmorphism syndrome MONDO:0016055 Orphanet:457284 Orphanet:199639 obsolete syndrome with corpus callosum agenesis /dysgenesis as a major feature +MONDO:0014605 microcephaly-corpus callosum hypoplasia-intellectual disability-facial dysmorphism syndrome MONDO:0035863 Orphanet:457284 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0014605 microcephaly-corpus callosum hypoplasia-intellectual disability-facial dysmorphism syndrome MONDO:8000032 Orphanet:457284 Orphanet:377789 obsolete malformation syndrome +MONDO:0014606 intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome MONDO:0035863 Orphanet:468678 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0014608 mandibulofacial dysostosis with alopecia MONDO:0019589 Orphanet:443995 Orphanet:90642 obsolete syndromic genetic hearing loss +MONDO:0014608 mandibulofacial dysostosis with alopecia MONDO:0021034 Orphanet:443995 Orphanet:481771 obsolete hereditary alopecia +MONDO:0014608 mandibulofacial dysostosis with alopecia MONDO:8000032 Orphanet:443995 Orphanet:377789 obsolete malformation syndrome +MONDO:0014609 cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome MONDO:0015329 Orphanet:444077 Orphanet:139021 obsolete malformation syndrome with short stature +MONDO:0014609 cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome MONDO:0015506 Orphanet:444077 Orphanet:156532 obsolete rare syndrome with cardiac malformations +MONDO:0014609 cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome MONDO:0016565 Orphanet:444077 Orphanet:240371 obsolete syndromic genetic obesity +MONDO:0014609 cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome MONDO:0026187 Orphanet:444077 Orphanet:183570 obsolete genetic malformation syndrome with short stature +MONDO:0014609 cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome MONDO:0035863 Orphanet:444077 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0014609 cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome MONDO:0800094 Orphanet:444077 Orphanet:498454 obsolete dysostosis with brachydactyly with extraskeletal manifestations +MONDO:0014609 cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome MONDO:8000032 Orphanet:444077 Orphanet:377789 obsolete malformation syndrome +MONDO:0014611 multiple mitochondrial dysfunctions syndrome 4 MONDO:0015918 Orphanet:457406 Orphanet:182070 obsolete rare neurodegenerative disease +MONDO:0014611 multiple mitochondrial dysfunctions syndrome 4 MONDO:0018609 Orphanet:457406 Orphanet:441434 obsolete syndromic hereditary optic neuropathy +MONDO:0014622 isolated focal non-epidermolytic palmoplantar keratoderma MONDO:0017673 Orphanet:448264 Orphanet:307846 obsolete isolated focal palmoplantar keratoderma +MONDO:0014629 autoimmune interstitial lung disease-arthritis syndrome MONDO:0015939 Orphanet:444092 Orphanet:182228 obsolete systemic autoimmune disease +MONDO:0014629 autoimmune interstitial lung disease-arthritis syndrome MONDO:0017020 Orphanet:444092 Orphanet:264699 obsolete secondary interstitial lung disease specific to childhood associated with a systemic disease +MONDO:0014629 autoimmune interstitial lung disease-arthritis syndrome MONDO:0028569 Orphanet:444092 Orphanet:264992 obsolete genetic interstitial lung disease +MONDO:0014629 autoimmune interstitial lung disease-arthritis syndrome MONDO:0028795 Orphanet:444092 Orphanet:271870 obsolete rare genetic systemic or rheumatologic disease +MONDO:0014630 familial adenomatous polyposis 3 MONDO:8000031 Orphanet:454840 Orphanet:557494 obsolete subtype of a disorder +MONDO:0014636 combined oxidative phosphorylation defect type 25 MONDO:0018157 Orphanet:447954 Orphanet:35696 obsolete mitochondrial disorder due to a defect in mitochondrial protein synthesis +MONDO:0014636 combined oxidative phosphorylation defect type 25 MONDO:0019058 Orphanet:447954 Orphanet:68385 obsolete neurometabolic disease +MONDO:0014636 combined oxidative phosphorylation defect type 25 MONDO:0019589 Orphanet:447954 Orphanet:90642 obsolete syndromic genetic hearing loss +MONDO:0014643 congenital cataract-microcephaly-nevus flammeus simplex-severe intellectual disability syndrome MONDO:0020225 Orphanet:464738 Orphanet:98641 obsolete syndromic cataract +MONDO:0014643 congenital cataract-microcephaly-nevus flammeus simplex-severe intellectual disability syndrome MONDO:0035863 Orphanet:464738 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0014643 congenital cataract-microcephaly-nevus flammeus simplex-severe intellectual disability syndrome MONDO:8000032 Orphanet:464738 Orphanet:377789 obsolete malformation syndrome +MONDO:0014644 hereditary spastic paraplegia 74 MONDO:0018550 Orphanet:468661 Orphanet:431320 obsolete spastic paraplegia-optic atrophy-neuropathy and spastic paraplegia-optic atrophy-neuropathy-related disorder +MONDO:0014658 severe achondroplasia-developmental delay-acanthosis nigricans syndrome MONDO:0018232 Orphanet:85165 Orphanet:364536 obsolete primary bone dysplasia with micromelia +MONDO:0014658 severe achondroplasia-developmental delay-acanthosis nigricans syndrome MONDO:0019274 Orphanet:85165 Orphanet:79359 obsolete other epidermal disorder +MONDO:0014658 severe achondroplasia-developmental delay-acanthosis nigricans syndrome MONDO:0019275 Orphanet:85165 Orphanet:79360 obsolete other genetic epidermal disease +MONDO:0014662 congenital insensitivity to pain-hypohidrosis syndrome MONDO:0015366 Orphanet:478664 Orphanet:140477 obsolete autosomal recessive hereditary sensory and autonomic neuropathy +MONDO:0014684 combined oxidative phosphorylation defect type 26 MONDO:0018157 Orphanet:477684 Orphanet:35696 obsolete mitochondrial disorder due to a defect in mitochondrial protein synthesis +MONDO:0014689 Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome MONDO:0019711 Orphanet:447974 Orphanet:93454 obsolete dysostosis with predominant vertebral and costal involvement +MONDO:0014689 Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome MONDO:8000032 Orphanet:447974 Orphanet:377789 obsolete malformation syndrome +MONDO:0014698 microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome MONDO:0019589 Orphanet:457351 Orphanet:90642 obsolete syndromic genetic hearing loss +MONDO:0014698 microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome MONDO:0034962 Orphanet:457351 Orphanet:519343 obsolete rare ophthalmic disorder with cortical involvement +MONDO:0014698 microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome MONDO:0035862 Orphanet:457351 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome +MONDO:0014698 microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome MONDO:8000032 Orphanet:457351 Orphanet:377789 obsolete malformation syndrome +MONDO:0014700 Au-Kline syndrome MONDO:8000031 Orphanet:453504 Orphanet:557494 obsolete subtype of a disorder +MONDO:0014702 autosomal recessive complex spastic paraplegia type 9B MONDO:0015089 Orphanet:447760 Orphanet:100981 obsolete autosomal recessive complex spastic paraplegia +MONDO:0014702 autosomal recessive complex spastic paraplegia type 9B MONDO:0035862 Orphanet:447760 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome +MONDO:0014704 skeletal overgrowth-craniofacial dysmorphism-hyperelastic skin-white matter lesions syndrome MONDO:0800091 Orphanet:477831 Orphanet:498448 obsolete overgrowth or tall stature syndrome with skeletal involvement +MONDO:0014704 skeletal overgrowth-craniofacial dysmorphism-hyperelastic skin-white matter lesions syndrome MONDO:8000032 Orphanet:477831 Orphanet:377789 obsolete malformation syndrome +MONDO:0014708 ring chromosome 14 MONDO:0015652 Orphanet:1440 Orphanet:166469 obsolete chromosomal anomaly with epilepsy as a major feature +MONDO:0014708 ring chromosome 14 MONDO:0018186 Orphanet:1440 Orphanet:363203 obsolete ring chromosome +MONDO:0014708 ring chromosome 14 MONDO:8000032 Orphanet:1440 Orphanet:377789 obsolete malformation syndrome +MONDO:0014710 autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency MONDO:0017897 Orphanet:477857 Orphanet:319535 obsolete autosomal recessive mendelian susceptibility to mycobacterial diseases due to a complete deficiency +MONDO:0014714 progressive microcephaly-seizures-cortical blindness-developmental delay syndrome MONDO:0017119 Orphanet:477814 Orphanet:269528 obsolete syndrome with microcephaly as major feature +MONDO:0014714 progressive microcephaly-seizures-cortical blindness-developmental delay syndrome MONDO:0034962 Orphanet:477814 Orphanet:519343 obsolete rare ophthalmic disorder with cortical involvement +MONDO:0014714 progressive microcephaly-seizures-cortical blindness-developmental delay syndrome MONDO:0035862 Orphanet:477814 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome +MONDO:0014714 progressive microcephaly-seizures-cortical blindness-developmental delay syndrome MONDO:8000032 Orphanet:477814 Orphanet:377789 obsolete malformation syndrome +MONDO:0014715 primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection MONDO:0018545 Orphanet:431166 Orphanet:431156 obsolete primary immunodeficiency with predisposition to severe viral infection +MONDO:0014716 macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome MONDO:0035863 Orphanet:457485 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0014716 macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome MONDO:8000032 Orphanet:457485 Orphanet:377789 obsolete malformation syndrome +MONDO:0014719 developmental and epileptic encephalopathy, 35 MONDO:0015918 Orphanet:457375 Orphanet:182070 obsolete rare neurodegenerative disease +MONDO:0014719 developmental and epileptic encephalopathy, 35 MONDO:0016406 Orphanet:457375 Orphanet:225713 obsolete other metabolic disease with epilepsy +MONDO:0014719 developmental and epileptic encephalopathy, 35 MONDO:0019058 Orphanet:457375 Orphanet:68385 obsolete neurometabolic disease +MONDO:0014720 autosomal dominant optic atrophy plus syndrome MONDO:0015360 Orphanet:1215 Orphanet:140456 obsolete autosomal dominant hereditary axonal motor and sensory neuropathy +MONDO:0014720 autosomal dominant optic atrophy plus syndrome MONDO:0016797 Orphanet:1215 Orphanet:254807 obsolete multiple mitochondrial DNA deletion syndrome +MONDO:0014722 Roifman syndrome MONDO:0035863 Orphanet:353298 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0014723 PMP22-RAI1 contiguous gene duplication syndrome MONDO:0015359 Orphanet:477817 Orphanet:140453 obsolete autosomal dominant hereditary demyelinating motor and sensory neuropathy +MONDO:0014723 PMP22-RAI1 contiguous gene duplication syndrome MONDO:0035863 Orphanet:477817 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0014723 PMP22-RAI1 contiguous gene duplication syndrome MONDO:8000032 Orphanet:477817 Orphanet:377789 obsolete malformation syndrome +MONDO:0014725 spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome MONDO:0035862 Orphanet:447997 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome +MONDO:0014726 Charcot-Marie-Tooth disease axonal type 2X MONDO:0019601 Orphanet:466775 Orphanet:91024 obsolete autosomal recessive axonal hereditary motor and sensory neuropathy +MONDO:0014728 combined oxidative phosphorylation defect type 27 MONDO:0018157 Orphanet:477774 Orphanet:35696 obsolete mitochondrial disorder due to a defect in mitochondrial protein synthesis +MONDO:0014728 combined oxidative phosphorylation defect type 27 MONDO:0019058 Orphanet:477774 Orphanet:68385 obsolete neurometabolic disease +MONDO:0014728 combined oxidative phosphorylation defect type 27 MONDO:0035862 Orphanet:477774 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome +MONDO:0014729 hereditary spastic paraplegia 75 MONDO:0015089 Orphanet:459056 Orphanet:100981 obsolete autosomal recessive complex spastic paraplegia +MONDO:0014729 hereditary spastic paraplegia 75 MONDO:0035862 Orphanet:459056 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome +MONDO:0014731 seizures-scoliosis-macrocephaly syndrome MONDO:0017742 Orphanet:466926 Orphanet:309450 obsolete disorder of O-xylosylglycan synthesis +MONDO:0014731 seizures-scoliosis-macrocephaly syndrome MONDO:0018287 Orphanet:466926 Orphanet:371071 obsolete congenital disorder of glycosylation with epilepsy as a major feature +MONDO:0014731 seizures-scoliosis-macrocephaly syndrome MONDO:0035862 Orphanet:466926 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome +MONDO:0014732 hypomyelinating leukodystrophy 12 MONDO:0035862 Orphanet:466934 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome +MONDO:0014733 Charcot-Marie-Tooth disease type 4K MONDO:0016578 Orphanet:391351 Orphanet:2443 obsolete mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies +MONDO:0014741 DeSanto-Shinawi syndrome due to WAC point mutation MONDO:8000031 Orphanet:466950 Orphanet:557494 obsolete subtype of a disorder +MONDO:0014743 rhizomelic chondrodysplasia punctata type 5 MONDO:8000031 Orphanet:468717 Orphanet:557494 obsolete subtype of a disorder +MONDO:0014744 acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome MONDO:0015114 Orphanet:466794 Orphanet:101939 obsolete rare parenchymal liver disease +MONDO:0014744 acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome MONDO:0015508 Orphanet:466794 Orphanet:156604 obsolete hereditary parenchymatous liver disease +MONDO:0014744 acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome MONDO:0019601 Orphanet:466794 Orphanet:91024 obsolete autosomal recessive axonal hereditary motor and sensory neuropathy +MONDO:0014744 acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome MONDO:0035862 Orphanet:466794 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome +MONDO:0014746 SLC39A8-CDG MONDO:0017118 Orphanet:468699 Orphanet:269523 obsolete syndrome with a cerebellar malformation as major feature +MONDO:0014746 SLC39A8-CDG MONDO:0035863 Orphanet:468699 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0014748 progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome MONDO:0015329 Orphanet:457395 Orphanet:139021 obsolete malformation syndrome with short stature +MONDO:0014748 progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome MONDO:0026187 Orphanet:457395 Orphanet:183570 obsolete genetic malformation syndrome with short stature +MONDO:0014748 progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome MONDO:0035863 Orphanet:457395 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0014748 progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome MONDO:8000032 Orphanet:457395 Orphanet:377789 obsolete malformation syndrome +MONDO:0014751 palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome MONDO:0015335 Orphanet:477993 Orphanet:139039 obsolete Mendelian syndromes with cleft lip/palate +MONDO:0014751 palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome MONDO:0026190 Orphanet:477993 Orphanet:183580 obsolete genetic malformation syndrome with odontal and/or periodontal component +MONDO:0014751 palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome MONDO:0035863 Orphanet:477993 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0014751 palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome MONDO:8000032 Orphanet:477993 Orphanet:377789 obsolete malformation syndrome MONDO:0014753 obsolete autosomal recessive optic atrophy MONDO:0000001 Orphanet:98676 Orphanet:377788 disease +MONDO:0014753 obsolete autosomal recessive optic atrophy MONDO:0020249 Orphanet:98676 Orphanet:98671 hereditary optic neuropathy +MONDO:0014757 macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome MONDO:0035471 Orphanet:487796 Orphanet:568047 obsolete disorder with multisystemic involvement and primary lymphedema +MONDO:0014757 macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome MONDO:0035863 Orphanet:487796 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0014757 macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome MONDO:8000032 Orphanet:487796 Orphanet:377789 obsolete malformation syndrome +MONDO:0014764 spastic paraplegia-severe developmental delay-epilepsy syndrome MONDO:0015089 Orphanet:464282 Orphanet:100981 obsolete autosomal recessive complex spastic paraplegia +MONDO:0014764 spastic paraplegia-severe developmental delay-epilepsy syndrome MONDO:0035863 Orphanet:464282 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0014773 cardiac anomalies - developmental delay - facial dysmorphism syndrome MONDO:0015506 Orphanet:369891 Orphanet:156532 obsolete rare syndrome with cardiac malformations +MONDO:0014773 cardiac anomalies - developmental delay - facial dysmorphism syndrome MONDO:0017131 Orphanet:369891 Orphanet:271853 obsolete hereditary cardiac anomaly +MONDO:0014773 cardiac anomalies - developmental delay - facial dysmorphism syndrome MONDO:0035863 Orphanet:369891 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0014773 cardiac anomalies - developmental delay - facial dysmorphism syndrome MONDO:8000032 Orphanet:369891 Orphanet:377789 obsolete malformation syndrome +MONDO:0014775 combined oxidative phosphorylation deficiency 28 MONDO:0018157 Orphanet:466784 Orphanet:35696 obsolete mitochondrial disorder due to a defect in mitochondrial protein synthesis +MONDO:0014778 Lamb-Shaffer syndrome MONDO:0035863 Orphanet:530983 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0014781 combined oxidative phosphorylation deficiency 29 MONDO:0015918 Orphanet:478029 Orphanet:182070 obsolete rare neurodegenerative disease +MONDO:0014781 combined oxidative phosphorylation deficiency 29 MONDO:0018157 Orphanet:478029 Orphanet:35696 obsolete mitochondrial disorder due to a defect in mitochondrial protein synthesis +MONDO:0014782 autosomal recessive limb-girdle muscular dystrophy type 2X MONDO:0015110 Orphanet:476084 Orphanet:101934 obsolete genetic cardiac rhythm disease +MONDO:0014784 severe hypotonia-psychomotor developmental delay-strabismus-cardiac septal defect syndrome MONDO:0015506 Orphanet:467176 Orphanet:156532 obsolete rare syndrome with cardiac malformations +MONDO:0014784 severe hypotonia-psychomotor developmental delay-strabismus-cardiac septal defect syndrome MONDO:0020253 Orphanet:467176 Orphanet:98683 obsolete syndrome with a symptomatic strabismus +MONDO:0014787 severe intellectual disability-corpus callosum agenesis-facial dysmorphism-cerebellar ataxia syndrome MONDO:0016055 Orphanet:466688 Orphanet:199639 obsolete syndrome with corpus callosum agenesis /dysgenesis as a major feature +MONDO:0014787 severe intellectual disability-corpus callosum agenesis-facial dysmorphism-cerebellar ataxia syndrome MONDO:0017118 Orphanet:466688 Orphanet:269523 obsolete syndrome with a cerebellar malformation as major feature +MONDO:0014787 severe intellectual disability-corpus callosum agenesis-facial dysmorphism-cerebellar ataxia syndrome MONDO:0017122 Orphanet:466688 Orphanet:269573 obsolete genetic syndrome with corpus callosum agenesis/dysgenesis as a major feature +MONDO:0014787 severe intellectual disability-corpus callosum agenesis-facial dysmorphism-cerebellar ataxia syndrome MONDO:0035863 Orphanet:466688 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0014787 severe intellectual disability-corpus callosum agenesis-facial dysmorphism-cerebellar ataxia syndrome MONDO:8000032 Orphanet:466688 Orphanet:377789 obsolete malformation syndrome +MONDO:0014789 CCDC115-CDG MONDO:0018799 Orphanet:468684 Orphanet:477811 obsolete rare hypercholesterolemia +MONDO:0014790 TMEM199-CDG MONDO:0018799 Orphanet:466703 Orphanet:477811 obsolete rare hypercholesterolemia +MONDO:0014791 Luscan-Lumish syndrome MONDO:0035863 Orphanet:597738 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0014791 Luscan-Lumish syndrome MONDO:0800091 Orphanet:597738 Orphanet:498448 obsolete overgrowth or tall stature syndrome with skeletal involvement +MONDO:0014791 Luscan-Lumish syndrome MONDO:8000032 Orphanet:597738 Orphanet:377789 obsolete malformation syndrome +MONDO:0014793 microcephaly-congenital cataract-psoriasiform dermatitis syndrome MONDO:0015946 Orphanet:488168 Orphanet:183426 obsolete rare genetic epidermal disorder +MONDO:0014793 microcephaly-congenital cataract-psoriasiform dermatitis syndrome MONDO:0019274 Orphanet:488168 Orphanet:79359 obsolete other epidermal disorder +MONDO:0014793 microcephaly-congenital cataract-psoriasiform dermatitis syndrome MONDO:0020225 Orphanet:488168 Orphanet:98641 obsolete syndromic cataract +MONDO:0014793 microcephaly-congenital cataract-psoriasiform dermatitis syndrome MONDO:8000032 Orphanet:488168 Orphanet:377789 obsolete malformation syndrome +MONDO:0014801 even-plus syndrome MONDO:0015246 Orphanet:496751 Orphanet:117573 obsolete syndromic anorectal malformation +MONDO:0014801 even-plus syndrome MONDO:0043008 Orphanet:496751 Orphanet:330206 obsolete genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability +MONDO:0014801 even-plus syndrome MONDO:8000032 Orphanet:496751 Orphanet:377789 obsolete malformation syndrome +MONDO:0014803 spasticity-ataxia-gait anomalies syndrome MONDO:0019058 Orphanet:401866 Orphanet:68385 obsolete neurometabolic disease +MONDO:0014805 Hao-Fountain syndrome MONDO:0035862 Orphanet:643549 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome +MONDO:0014810 pancytopenia due to IKZF1 mutations MONDO:0018035 Orphanet:317473 Orphanet:331217 obsolete syndrome with combined immunodeficiency +MONDO:0014816 split-foot malformation-mesoaxial polydactyly syndrome MONDO:0017432 Orphanet:488232 Orphanet:294955 obsolete syndrome with limb reduction defects +MONDO:0014816 split-foot malformation-mesoaxial polydactyly syndrome MONDO:0017434 Orphanet:488232 Orphanet:294959 obsolete syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy +MONDO:0014816 split-foot malformation-mesoaxial polydactyly syndrome MONDO:0019285 Orphanet:488232 Orphanet:79370 obsolete syndromic nail anomaly +MONDO:0014816 split-foot malformation-mesoaxial polydactyly syndrome MONDO:0019589 Orphanet:488232 Orphanet:90642 obsolete syndromic genetic hearing loss +MONDO:0014816 split-foot malformation-mesoaxial polydactyly syndrome MONDO:0043008 Orphanet:488232 Orphanet:330206 obsolete genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability +MONDO:0014816 split-foot malformation-mesoaxial polydactyly syndrome MONDO:8000032 Orphanet:488232 Orphanet:377789 obsolete malformation syndrome +MONDO:0014821 complex lethal osteochondrodysplasia MONDO:0019704 Orphanet:457378 Orphanet:93446 obsolete primary bone dysplasia with decreased bone density +MONDO:0014821 complex lethal osteochondrodysplasia MONDO:8000032 Orphanet:457378 Orphanet:377789 obsolete malformation syndrome +MONDO:0014822 15q14 microdeletion syndrome MONDO:8000031 Orphanet:261190 Orphanet:557494 obsolete subtype of a disorder +MONDO:0014823 hypotonia, infantile, with psychomotor retardation and characteristic facies 3 MONDO:0035863 Orphanet:488632 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0014823 hypotonia, infantile, with psychomotor retardation and characteristic facies 3 MONDO:8000032 Orphanet:488632 Orphanet:377789 obsolete malformation syndrome +MONDO:0014827 autosomal recessive spastic paraplegia type 76 MONDO:0015089 Orphanet:488594 Orphanet:100981 obsolete autosomal recessive complex spastic paraplegia +MONDO:0014830 platelet-type bleeding disorder 20 MONDO:0018796 Orphanet:466806 Orphanet:477797 obsolete isolated constitutional thrombocytopenia +MONDO:0014831 progeroid and marfanoid aspect-lipodystrophy syndrome MONDO:0028795 Orphanet:300382 Orphanet:271870 obsolete rare genetic systemic or rheumatologic disease +MONDO:0014832 intellectual disability, autosomal recessive 53 MONDO:0018287 Orphanet:488635 Orphanet:371071 obsolete congenital disorder of glycosylation with epilepsy as a major feature +MONDO:0014832 intellectual disability, autosomal recessive 53 MONDO:0035862 Orphanet:488635 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome +MONDO:0014848 TELO2-related intellectual disability-neurodevelopmental disorder MONDO:0034962 Orphanet:488642 Orphanet:519343 obsolete rare ophthalmic disorder with cortical involvement +MONDO:0014848 TELO2-related intellectual disability-neurodevelopmental disorder MONDO:0035863 Orphanet:488642 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0014848 TELO2-related intellectual disability-neurodevelopmental disorder MONDO:8000032 Orphanet:488642 Orphanet:377789 obsolete malformation syndrome +MONDO:0014856 combined oxidative phosphorylation defect type 30 MONDO:0018157 Orphanet:478042 Orphanet:35696 obsolete mitochondrial disorder due to a defect in mitochondrial protein synthesis +MONDO:0014856 combined oxidative phosphorylation defect type 30 MONDO:0019058 Orphanet:478042 Orphanet:68385 obsolete neurometabolic disease +MONDO:0014857 neurodevelopmental disorder with or without anomalies of the brain, eye, or heart MONDO:0035863 Orphanet:494344 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0014857 neurodevelopmental disorder with or without anomalies of the brain, eye, or heart MONDO:8000032 Orphanet:494344 Orphanet:377789 obsolete malformation syndrome +MONDO:0014864 hypermanganesemia with dystonia 2 MONDO:0018329 Orphanet:521406 Orphanet:391711 obsolete persistent combined dystonia +MONDO:0014864 hypermanganesemia with dystonia 2 MONDO:0035862 Orphanet:521406 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome +MONDO:0014866 Charcot-Marie-Tooth disease axonal type 2T MONDO:0019601 Orphanet:443950 Orphanet:91024 obsolete autosomal recessive axonal hereditary motor and sensory neuropathy +MONDO:0014869 hydrops-lactic acidosis-sideroblastic anemia-multisystemic failure syndrome MONDO:0018157 Orphanet:528091 Orphanet:35696 obsolete mitochondrial disorder due to a defect in mitochondrial protein synthesis +MONDO:0014870 NEK9-related lethal skeletal dysplasia MONDO:8000032 Orphanet:464366 Orphanet:377789 obsolete malformation syndrome +MONDO:0014873 nevus comedonicus syndrome MONDO:0017414 Orphanet:64754 Orphanet:294057 obsolete rare nevus +MONDO:0014877 myopathy, distal, 5 MONDO:0016109 Orphanet:482601 Orphanet:206653 obsolete autosomal recessive distal myopathy +MONDO:0014881 transketolase deficiency MONDO:0015329 Orphanet:488618 Orphanet:139021 obsolete malformation syndrome with short stature +MONDO:0014881 transketolase deficiency MONDO:0015506 Orphanet:488618 Orphanet:156532 obsolete rare syndrome with cardiac malformations +MONDO:0014881 transketolase deficiency MONDO:0026187 Orphanet:488618 Orphanet:183570 obsolete genetic malformation syndrome with short stature +MONDO:0014881 transketolase deficiency MONDO:0035863 Orphanet:488618 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0014881 transketolase deficiency MONDO:8000032 Orphanet:488618 Orphanet:377789 obsolete malformation syndrome +MONDO:0014882 hereditary spastic paraplegia 77 MONDO:0017915 Orphanet:466722 Orphanet:320346 obsolete pure or complex autosomal recessive spastic paraplegia +MONDO:0014882 hereditary spastic paraplegia 77 MONDO:0018157 Orphanet:466722 Orphanet:35696 obsolete mitochondrial disorder due to a defect in mitochondrial protein synthesis +MONDO:0014882 hereditary spastic paraplegia 77 MONDO:0019058 Orphanet:466722 Orphanet:68385 obsolete neurometabolic disease +MONDO:0014884 cholestasis, progressive familial intrahepatic, 5 MONDO:8000031 Orphanet:480476 Orphanet:557494 obsolete subtype of a disorder +MONDO:0014886 severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome MONDO:0035863 Orphanet:488627 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0014886 severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome MONDO:8000032 Orphanet:488627 Orphanet:377789 obsolete malformation syndrome +MONDO:0014888 MIRAGE syndrome MONDO:0019590 Orphanet:494433 Orphanet:90692 obsolete rare endocrine growth disease +MONDO:0014888 MIRAGE syndrome MONDO:0020042 Orphanet:494433 Orphanet:98087 obsolete syndrome with 46,XY disorder of sex development +MONDO:0014888 MIRAGE syndrome MONDO:0035683 Orphanet:494433 Orphanet:595337 obsolete adrenal hypoplasia congenita +MONDO:0014888 MIRAGE syndrome MONDO:0035862 Orphanet:494433 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome +MONDO:0014889 striatonigral degeneration, childhood-onset MONDO:0015918 Orphanet:497906 Orphanet:182070 obsolete rare neurodegenerative disease +MONDO:0014889 striatonigral degeneration, childhood-onset MONDO:0018265 Orphanet:497906 Orphanet:370106 obsolete rare disorder with dystonia and other neurologic or systemic manifestation +MONDO:0014890 PERCHING syndrome MONDO:0034953 Orphanet:603684 Orphanet:519325 obsolete syndromic inherited retinal disorder +MONDO:0014890 PERCHING syndrome MONDO:0035863 Orphanet:603684 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0014890 PERCHING syndrome MONDO:8000032 Orphanet:603684 Orphanet:377789 obsolete malformation syndrome +MONDO:0014892 micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome MONDO:0035863 Orphanet:476126 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0014892 micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome MONDO:8000032 Orphanet:476126 Orphanet:377789 obsolete malformation syndrome +MONDO:0014896 congenital muscular dystrophy-respiratory failure-skin abnormalities-joint hyperlaxity syndrome MONDO:0035862 Orphanet:486815 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome +MONDO:0014899 progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4 MONDO:0016797 Orphanet:329314 Orphanet:254807 obsolete multiple mitochondrial DNA deletion syndrome +MONDO:0014900 autosomal recessive limb-girdle muscular dystrophy type 2Y MONDO:0018529 Orphanet:424261 Orphanet:424925 obsolete qualitative or quantitative defects of Torsin-1A-interacting protein 1 +MONDO:0014905 encephalopathy due to defective mitochondrial and peroxisomal fission 2 MONDO:8000031 Orphanet:485421 Orphanet:557494 obsolete subtype of a disorder +MONDO:0014911 growth retardation, intellectual developmental disorder, hypotonia, and hepatopathy MONDO:0015114 Orphanet:541423 Orphanet:101939 obsolete rare parenchymal liver disease +MONDO:0014911 growth retardation, intellectual developmental disorder, hypotonia, and hepatopathy MONDO:0015508 Orphanet:541423 Orphanet:156604 obsolete hereditary parenchymatous liver disease +MONDO:0014911 growth retardation, intellectual developmental disorder, hypotonia, and hepatopathy MONDO:0035862 Orphanet:541423 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome +MONDO:0014918 tall stature-intellectual disability-renal anomalies syndrome MONDO:0019721 Orphanet:500095 Orphanet:93547 obsolete syndromic renal or urinary tract malformation +MONDO:0014918 tall stature-intellectual disability-renal anomalies syndrome MONDO:0035863 Orphanet:500095 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0014918 tall stature-intellectual disability-renal anomalies syndrome MONDO:8000032 Orphanet:500095 Orphanet:377789 obsolete malformation syndrome +MONDO:0014920 patterned macular dystrophy 3 MONDO:0034953 Orphanet:466718 Orphanet:519325 obsolete syndromic inherited retinal disorder +MONDO:0014936 ZTTK syndrome MONDO:0017120 Orphanet:500150 Orphanet:269531 obsolete other syndrome with a central nervous system malformation as major feature +MONDO:0014936 ZTTK syndrome MONDO:0035863 Orphanet:500150 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0014936 ZTTK syndrome MONDO:8000032 Orphanet:500150 Orphanet:377789 obsolete malformation syndrome +MONDO:0014944 short stature-brachydactyly-obesity-global developmental delay syndrome MONDO:0016565 Orphanet:464288 Orphanet:240371 obsolete syndromic genetic obesity +MONDO:0014944 short stature-brachydactyly-obesity-global developmental delay syndrome MONDO:0035863 Orphanet:464288 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0014944 short stature-brachydactyly-obesity-global developmental delay syndrome MONDO:8000032 Orphanet:464288 Orphanet:377789 obsolete malformation syndrome +MONDO:0014952 intellectual disability-epilepsy-extrapyramidal syndrome MONDO:0035862 Orphanet:468620 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome +MONDO:0014953 gnb5-related intellectual disability-cardiac arrhythmia syndrome MONDO:0015110 Orphanet:542306 Orphanet:101934 obsolete genetic cardiac rhythm disease +MONDO:0014953 gnb5-related intellectual disability-cardiac arrhythmia syndrome MONDO:0035862 Orphanet:542306 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome +MONDO:0014958 Harel-Yoon syndrome MONDO:0016133 Orphanet:496790 Orphanet:207018 obsolete rare hereditary metabolic disease with peripheral neuropathy +MONDO:0014958 Harel-Yoon syndrome MONDO:0016327 Orphanet:496790 Orphanet:217587 obsolete mitochondrial disease with hypertrophic cardiomyopathy +MONDO:0014958 Harel-Yoon syndrome MONDO:0016803 Orphanet:496790 Orphanet:254837 obsolete unspecified inborn mitochondrial disorder +MONDO:0014958 Harel-Yoon syndrome MONDO:0018609 Orphanet:496790 Orphanet:441434 obsolete syndromic hereditary optic neuropathy +MONDO:0014958 Harel-Yoon syndrome MONDO:0035862 Orphanet:496790 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome +MONDO:0014975 autosomal recessive spastic paraplegia type 78 MONDO:0015089 Orphanet:513436 Orphanet:100981 obsolete autosomal recessive complex spastic paraplegia +MONDO:0014976 lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome MONDO:0016343 Orphanet:478049 Orphanet:217678 obsolete unclassified cardiomyopathy +MONDO:0014976 lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome MONDO:0016578 Orphanet:478049 Orphanet:2443 obsolete mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies +MONDO:0014976 lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome MONDO:0019058 Orphanet:478049 Orphanet:68385 obsolete neurometabolic disease +MONDO:0014976 lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome MONDO:0020029 Orphanet:478049 Orphanet:98054 obsolete rare genetic cardiac disease +MONDO:0014976 lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome MONDO:0020225 Orphanet:478049 Orphanet:98641 obsolete syndromic cataract +MONDO:0014977 autosomal recessive limb-girdle muscular dystrophy type 2R1 MONDO:0017742 Orphanet:480682 Orphanet:309450 obsolete disorder of O-xylosylglycan synthesis +MONDO:0015003 dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities MONDO:0015918 Orphanet:508093 Orphanet:182070 obsolete rare neurodegenerative disease +MONDO:0015003 dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities MONDO:0018329 Orphanet:508093 Orphanet:391711 obsolete persistent combined dystonia +MONDO:0015003 dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities MONDO:0018609 Orphanet:508093 Orphanet:441434 obsolete syndromic hereditary optic neuropathy +MONDO:0015003 dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities MONDO:0019058 Orphanet:508093 Orphanet:68385 obsolete neurometabolic disease +MONDO:0015003 dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities MONDO:8000032 Orphanet:508093 Orphanet:377789 obsolete malformation syndrome +MONDO:0015004 dystonia 28, childhood-onset MONDO:0018329 Orphanet:589618 Orphanet:391711 obsolete persistent combined dystonia +MONDO:0015004 dystonia 28, childhood-onset MONDO:0035862 Orphanet:589618 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome +MONDO:0015006 epidermolysis bullosa simplex 6, generalized, with scarring and hair loss MONDO:0035685 Orphanet:508529 Orphanet:595351 obsolete epidermolysis bullosa simplex with extracutaneous involvement +MONDO:0015007 spastic paraplegia, intellectual disability, nystagmus, and obesity MONDO:0016565 Orphanet:521390 Orphanet:240371 obsolete syndromic genetic obesity +MONDO:0015007 spastic paraplegia, intellectual disability, nystagmus, and obesity MONDO:0035862 Orphanet:521390 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome +MONDO:0015007 spastic paraplegia, intellectual disability, nystagmus, and obesity MONDO:8000032 Orphanet:521390 Orphanet:377789 obsolete malformation syndrome +MONDO:0015010 atypical glycine encephalopathy MONDO:8000031 Orphanet:289863 Orphanet:557494 obsolete subtype of a disorder +MONDO:0015012 mucopolysaccharidosis-plus syndrome MONDO:0015118 Orphanet:505248 Orphanet:101944 obsolete rare pulmonary disease +MONDO:0015012 mucopolysaccharidosis-plus syndrome MONDO:0015510 Orphanet:505248 Orphanet:156610 obsolete rare genetic respiratory disease +MONDO:0015012 mucopolysaccharidosis-plus syndrome MONDO:0019711 Orphanet:505248 Orphanet:93454 obsolete dysostosis with predominant vertebral and costal involvement +MONDO:0015012 mucopolysaccharidosis-plus syndrome MONDO:0035863 Orphanet:505248 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0015012 mucopolysaccharidosis-plus syndrome MONDO:8000032 Orphanet:505248 Orphanet:377789 obsolete malformation syndrome +MONDO:0015014 coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, and deafness MONDO:0015310 Orphanet:603494 Orphanet:137905 obsolete syndromic optic nerve hypoplasia +MONDO:0015014 coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, and deafness MONDO:0019589 Orphanet:603494 Orphanet:90642 obsolete syndromic genetic hearing loss +MONDO:0015014 coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, and deafness MONDO:8000032 Orphanet:603494 Orphanet:377789 obsolete malformation syndrome +MONDO:0015017 anterior segment dysgenesis 8 MONDO:8000032 Orphanet:519388 Orphanet:377789 obsolete malformation syndrome +MONDO:0015028 48,XXYY syndrome MONDO:0015620 Orphanet:10 Orphanet:165707 obsolete syndromic urogenital tract malformation +MONDO:0015028 48,XXYY syndrome MONDO:0017006 Orphanet:10 Orphanet:263749 obsolete X and Y chromosomal anomaly +MONDO:0015028 48,XXYY syndrome MONDO:0035863 Orphanet:10 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0015028 48,XXYY syndrome MONDO:8000032 Orphanet:10 Orphanet:377789 obsolete malformation syndrome +MONDO:0015029 reticular perineurioma MONDO:8000031 Orphanet:100000 Orphanet:557494 obsolete subtype of a disorder +MONDO:0015030 sclerosing perineurioma MONDO:8000031 Orphanet:100001 Orphanet:557494 obsolete subtype of a disorder +MONDO:0015033 ABeta amyloidosis, dutch type MONDO:8000031 Orphanet:100006 Orphanet:557494 obsolete subtype of a disorder +MONDO:0015034 lissencephaly with cerebellar hypoplasia type A MONDO:8000032 Orphanet:100011 Orphanet:377789 obsolete malformation syndrome +MONDO:0015035 lissencephaly with cerebellar hypoplasia type B MONDO:8000032 Orphanet:100012 Orphanet:377789 obsolete malformation syndrome +MONDO:0015036 lissencephaly with cerebellar hypoplasia type C MONDO:8000032 Orphanet:100013 Orphanet:377789 obsolete malformation syndrome +MONDO:0015037 lissencephaly with cerebellar hypoplasia type D MONDO:8000032 Orphanet:100014 Orphanet:377789 obsolete malformation syndrome +MONDO:0015038 lissencephaly with cerebellar hypoplasia type E MONDO:8000032 Orphanet:100015 Orphanet:377789 obsolete malformation syndrome +MONDO:0015039 lissencephaly with cerebellar hypoplasia type F MONDO:8000032 Orphanet:100016 Orphanet:377789 obsolete malformation syndrome +MONDO:0015040 myelodysplastic syndrome with excess blasts-1 MONDO:8000031 Orphanet:100019 Orphanet:557494 obsolete subtype of a disorder +MONDO:0015041 myelodysplastic syndrome with excess blasts-2 MONDO:8000031 Orphanet:100020 Orphanet:557494 obsolete subtype of a disorder +MONDO:0015042 primary plasmacytoma of the bone MONDO:8000031 Orphanet:100021 Orphanet:557494 obsolete subtype of a disorder +MONDO:0015043 extramedullary soft tissue plasmacytoma MONDO:8000031 Orphanet:100022 Orphanet:557494 obsolete subtype of a disorder +MONDO:0015044 mu-heavy chain disease MONDO:8000031 Orphanet:100024 Orphanet:557494 obsolete subtype of a disorder +MONDO:0015045 alpha-heavy chain disease MONDO:8000031 Orphanet:100025 Orphanet:557494 obsolete subtype of a disorder +MONDO:0015046 gamma-heavy chain disease MONDO:8000031 Orphanet:100026 Orphanet:557494 obsolete subtype of a disorder +MONDO:0015047 amelogenesis imperfecta type 1 MONDO:8000031 Orphanet:100031 Orphanet:557494 obsolete subtype of a disorder +MONDO:0015048 amelogenesis imperfecta type 2 MONDO:8000031 Orphanet:100033 Orphanet:557494 obsolete subtype of a disorder +MONDO:0015049 solitary necrotic nodule of the liver MONDO:0017632 Orphanet:100035 Orphanet:306636 obsolete rare tumor of liver and intrahepatic biliary tract +MONDO:0015050 esophageal duplication cyst MONDO:0019619 Orphanet:100047 Orphanet:91357 obsolete duplication of the esophagus +MONDO:0015050 esophageal duplication cyst MONDO:8000030 Orphanet:100047 Orphanet:377791 obsolete morphological anomaly +MONDO:0015051 tubular duplication of the esophagus MONDO:0019619 Orphanet:100048 Orphanet:91357 obsolete duplication of the esophagus +MONDO:0015051 tubular duplication of the esophagus MONDO:8000030 Orphanet:100048 Orphanet:377791 obsolete morphological anomaly +MONDO:0015052 obsolete primary interstitial lung disease specific to childhood due to pulmonary surfactant protein anomalies MONDO:0017016 Orphanet:100049 Orphanet:264670 obsolete primary interstitial lung disease specific to childhood due to alveolar structure disorder +MONDO:0015052 obsolete primary interstitial lung disease specific to childhood due to pulmonary surfactant protein anomalies MONDO:0028569 Orphanet:100049 Orphanet:264992 obsolete genetic interstitial lung disease +MONDO:0015053 hereditary angioedema type 1 MONDO:8000031 Orphanet:100050 Orphanet:557494 obsolete subtype of a disorder +MONDO:0015054 hereditary angioedema type 2 MONDO:8000031 Orphanet:100051 Orphanet:557494 obsolete subtype of a disorder +MONDO:0015055 acquired angioedema type 2 MONDO:8000031 Orphanet:100055 Orphanet:557494 obsolete subtype of a disorder +MONDO:0015056 acquired angioedema type 1 MONDO:8000031 Orphanet:100056 Orphanet:557494 obsolete subtype of a disorder +MONDO:0015059 progressive non-fluent aphasia MONDO:0017643 Orphanet:100070 Orphanet:306708 obsolete frontotemporal neurodegeneration with movement disorder +MONDO:0015060 mosaic trisomy 3 MONDO:0020051 Orphanet:100071 Orphanet:98131 obsolete total autosomal trisomy +MONDO:0015060 mosaic trisomy 3 MONDO:8000032 Orphanet:100071 Orphanet:377789 obsolete malformation syndrome +MONDO:0015061 neurogenic thoracic outlet syndrome MONDO:8000031 Orphanet:100073 Orphanet:557494 obsolete subtype of a disorder +MONDO:0015066 neuroendocrine tumor of the appendix, well differentiated, low or intermediate grade MONDO:0028618 Orphanet:100079 Orphanet:481508 obsolete gastroenteric neuroendocrine neoplasm +MONDO:0015069 neuroendocrine tumor of the anal canal MONDO:0028618 Orphanet:100082 Orphanet:481508 obsolete gastroenteric neuroendocrine neoplasm +MONDO:0015070 laryngeal neuroendocrine neoplasm MONDO:0015081 Orphanet:100083 Orphanet:100101 obsolete neuroendocrine tumor with other location +MONDO:0015070 laryngeal neuroendocrine neoplasm MONDO:0020035 Orphanet:100083 Orphanet:98061 obsolete rare otorhinolaryngologic tumor +MONDO:0015071 middle ear neuroendocrine tumor MONDO:0015081 Orphanet:100084 Orphanet:100101 obsolete neuroendocrine tumor with other location +MONDO:0015071 middle ear neuroendocrine tumor MONDO:0020035 Orphanet:100084 Orphanet:98061 obsolete rare otorhinolaryngologic tumor +MONDO:0015072 liver neuroendocrine carcinoma MONDO:0015081 Orphanet:100085 Orphanet:100101 obsolete neuroendocrine tumor with other location +MONDO:0015072 liver neuroendocrine carcinoma MONDO:0018530 Orphanet:100085 Orphanet:424933 obsolete rare epithelial tumor of liver and intrahepatic biliary tract +MONDO:0015073 gallbladder neuroendocrine tumor, grade 1/2 MONDO:0015081 Orphanet:100086 Orphanet:100101 obsolete neuroendocrine tumor with other location +MONDO:0015073 gallbladder neuroendocrine tumor, grade 1/2 MONDO:0017631 Orphanet:100086 Orphanet:306633 obsolete rare tumor of gallbladder and extrahepatic biliary tract +MONDO:0015074 thyroid tumor MONDO:0015125 Orphanet:100087 Orphanet:101955 obsolete rare thyroid disease +MONDO:0015074 thyroid tumor MONDO:0015936 Orphanet:100087 Orphanet:182130 obsolete rare tumor of endocrine glands +MONDO:0015076 obsolete rare parathyroid tumor MONDO:0015936 Orphanet:100090 Orphanet:182130 obsolete rare tumor of endocrine glands +MONDO:0015076 obsolete rare parathyroid tumor MONDO:0019061 Orphanet:100090 Orphanet:68415 obsolete rare parathyroid disease and phosphocalcic metabolism anomaly +MONDO:0015079 multiple polyglandular tumor MONDO:0015936 Orphanet:100094 Orphanet:182130 obsolete rare tumor of endocrine glands +MONDO:0015079 multiple polyglandular tumor MONDO:0025511 Orphanet:100094 Orphanet:271847 obsolete inherited neuroendocrine tumor +MONDO:0015079 multiple polyglandular tumor MONDO:0026209 Orphanet:100094 Orphanet:183643 obsolete genetic polyendocrinopathy +MONDO:0015081 obsolete neuroendocrine tumor with other location MONDO:0019496 Orphanet:100101 Orphanet:877 neuroendocrine neoplasm +MONDO:0015082 alopecia antibody deficiency MONDO:0018041 Orphanet:1006 Orphanet:331244 obsolete other immunodeficiency syndrome with predominantly antibody defects +MONDO:0015084 FRAXF syndrome MONDO:0021198 Orphanet:100974 Orphanet:98053 obsolete rare genetic disease +MONDO:0015086 cloverleaf skull-asphyxiating thoracic dysplasia syndrome MONDO:8000032 Orphanet:100978 Orphanet:377789 obsolete malformation syndrome +MONDO:0015088 obsolete autosomal dominant pure spastic paraplegia MONDO:0015149 Orphanet:100980 Orphanet:102012 pure hereditary spastic paraplegia +MONDO:0015089 obsolete autosomal recessive complex spastic paraplegia MONDO:0015150 Orphanet:100981 Orphanet:102013 complex hereditary spastic paraplegia +MONDO:0015090 obsolete autosomal recessive pure spastic paraplegia MONDO:0015149 Orphanet:100982 Orphanet:102012 pure hereditary spastic paraplegia +MONDO:0015092 cleft hard palate MONDO:8000030 Orphanet:101023 Orphanet:377791 obsolete morphological anomaly +MONDO:0015093 sub-cortical nodular heterotopia MONDO:8000031 Orphanet:101029 Orphanet:557494 obsolete subtype of a disorder +MONDO:0015094 subependymal nodular heterotopia MONDO:8000031 Orphanet:101030 Orphanet:557494 obsolete subtype of a disorder +MONDO:0015096 familial hypofibrinogenemia MONDO:8000031 Orphanet:101041 Orphanet:557494 obsolete subtype of a disorder +MONDO:0015097 aortic valve dysplasia MONDO:8000031 Orphanet:101043 Orphanet:557494 obsolete subtype of a disorder +MONDO:0015099 unilateral hemispheric polymicrogyria MONDO:8000031 Orphanet:101071 Orphanet:557494 obsolete subtype of a disorder +MONDO:0015101 Marin-Amat syndrome MONDO:8000031 Orphanet:101104 Orphanet:557494 obsolete subtype of a disorder +MONDO:0015103 pulmonary valve agenesis-tetralogy of fallot-absence of ductus arteriosus syndrome MONDO:8000032 Orphanet:101206 Orphanet:377789 obsolete malformation syndrome +MONDO:0015104 porphyria cutanea tarda MONDO:0019800 Orphanet:101330 Orphanet:95161 obsolete chronic hepatic porphyria +MONDO:0015106 obsolete rare urogenital disease MONDO:8000033 Orphanet:101433 Orphanet:557492 obsolete group of disorders +MONDO:0015107 obsolete rare genetic eye disease MONDO:0021198 Orphanet:101435 Orphanet:98053 obsolete rare genetic disease MONDO:0015108 obsolete rare non-syndromic intellectual disability MONDO:0000001 Orphanet:101685 Orphanet:377788 disease +MONDO:0015108 obsolete rare non-syndromic intellectual disability MONDO:0015653 Orphanet:101685 Orphanet:166472 monogenic epilepsy +MONDO:0015108 obsolete rare non-syndromic intellectual disability MONDO:0015982 Orphanet:101685 Orphanet:183757 obsolete rare genetic intellectual disability +MONDO:0015108 obsolete rare non-syndromic intellectual disability MONDO:0019491 Orphanet:101685 Orphanet:87277 obsolete rare intellectual disability +MONDO:0015109 congenital anomaly of the mitral subvalvular apparatus MONDO:8000030 Orphanet:101932 Orphanet:377791 obsolete morphological anomaly +MONDO:0015110 obsolete genetic cardiac rhythm disease MONDO:0016347 Orphanet:101934 Orphanet:218436 obsolete rare cardiac rhythm disease +MONDO:0015110 obsolete genetic cardiac rhythm disease MONDO:0020029 Orphanet:101934 Orphanet:98054 obsolete rare genetic cardiac disease +MONDO:0015111 obsolete gastroesophageal disease MONDO:0019997 Orphanet:101936 Orphanet:97935 obsolete rare gastroenterologic disease +MONDO:0015112 obsolete rare pancreatic disease MONDO:0019997 Orphanet:101937 Orphanet:97935 obsolete rare gastroenterologic disease +MONDO:0015113 obsolete rare vascular liver disease MONDO:0018928 Orphanet:101938 Orphanet:57146 obsolete rare hepatic disease +MONDO:0015114 obsolete rare parenchymal liver disease MONDO:0018928 Orphanet:101939 Orphanet:57146 obsolete rare hepatic disease +MONDO:0015115 obsolete rare genetic metabolic liver disease MONDO:0015507 Orphanet:101940 Orphanet:156601 obsolete rare genetic hepatic disease +MONDO:0015115 obsolete rare genetic metabolic liver disease MONDO:0018928 Orphanet:101940 Orphanet:57146 obsolete rare hepatic disease +MONDO:0015116 obsolete rare biliary tract disease MONDO:0018928 Orphanet:101941 Orphanet:57146 obsolete rare hepatic disease +MONDO:0015117 obsolete rare hepatic and biliary tract tumor MONDO:0018928 Orphanet:101943 Orphanet:57146 obsolete rare hepatic disease +MONDO:0015117 obsolete rare hepatic and biliary tract tumor MONDO:0020033 Orphanet:101943 Orphanet:98059 obsolete rare digestive tumor +MONDO:0015118 obsolete rare pulmonary disease MONDO:0020000 Orphanet:101944 Orphanet:97955 obsolete rare respiratory disease +MONDO:0015119 obsolete bronchopulmonary tumor MONDO:0020034 Orphanet:101945 Orphanet:98060 obsolete rare respiratory tract neoplasm +MONDO:0015121 obsolete rare eye tumor MONDO:0020004 Orphanet:101950 Orphanet:97966 obsolete rare eye disease +MONDO:0015121 obsolete rare eye tumor MONDO:0020031 Orphanet:101950 Orphanet:98057 obsolete rare tumor +MONDO:0015122 obsolete rare diabetes mellitus MONDO:0020005 Orphanet:101952 Orphanet:97978 obsolete rare endocrine disease +MONDO:0015123 obsolete rare inherited dyslipidemia MONDO:0002525 Orphanet:101953 Orphanet:309005 inherited lipid metabolism disorder +MONDO:0015123 obsolete rare inherited dyslipidemia MONDO:0015513 Orphanet:101953 Orphanet:156638 obsolete rare genetic endocrine disease +MONDO:0015123 obsolete rare inherited dyslipidemia MONDO:0020005 Orphanet:101953 Orphanet:97978 obsolete rare endocrine disease +MONDO:0015124 obsolete rare adrenal disease MONDO:0020005 Orphanet:101954 Orphanet:97978 obsolete rare endocrine disease +MONDO:0015125 obsolete rare thyroid disease MONDO:0020005 Orphanet:101955 Orphanet:97978 obsolete rare endocrine disease +MONDO:0015126 polyendocrinopathy MONDO:0020005 Orphanet:101956 Orphanet:97978 obsolete rare endocrine disease +MONDO:0015127 pituitary deficiency MONDO:0015889 Orphanet:101957 Orphanet:181384 obsolete rare hypothalamic or pituitary disease +MONDO:0015127 pituitary deficiency MONDO:0015968 Orphanet:101957 Orphanet:183628 obsolete rare genetic hypothalamic or pituitary disease +MONDO:0015128 primary adrenal insufficiency MONDO:0015124 Orphanet:101958 Orphanet:101954 obsolete rare adrenal disease +MONDO:0015130 obsolete acquired chronic primary adrenal insufficiency MONDO:0015129 Orphanet:101963 Orphanet:101959 chronic primary adrenal insufficiency +MONDO:0015131 combined immunodeficiency MONDO:0015823 Orphanet:101972 Orphanet:179006 obsolete primary immunodeficiency due to a defect in adaptive immunity +MONDO:0015132 obsolete immunodeficiency predominantly affecting antibody production MONDO:0015823 Orphanet:101977 Orphanet:179006 obsolete primary immunodeficiency due to a defect in adaptive immunity +MONDO:0015133 obsolete quantitative and/or qualitative congenital phagocyte defect MONDO:0015135 Orphanet:101985 Orphanet:101988 obsolete primary immunodeficiency due to a genetic defect in innate immunity +MONDO:0015134 constitutional neutropenia MONDO:0015133 Orphanet:101987 Orphanet:101985 obsolete quantitative and/or qualitative congenital phagocyte defect +MONDO:0015135 obsolete primary immunodeficiency due to a genetic defect in innate immunity MONDO:0003778 Orphanet:101988 Orphanet:101997 inborn error of immunity +MONDO:0015136 obsolete immunodeficiency due to a genetic complement cascade protein anomaly MONDO:0015135 Orphanet:101992 Orphanet:101988 obsolete primary immunodeficiency due to a genetic defect in innate immunity +MONDO:0015139 obsolete rare epilepsy MONDO:0020009 Orphanet:101998 Orphanet:98006 obsolete rare neurologic disease +MONDO:0015140 early-onset autosomal dominant Alzheimer disease MONDO:0020136 Orphanet:1020 Orphanet:98534 obsolete neurodegenerative disease with dementia +MONDO:0015140 early-onset autosomal dominant Alzheimer disease MONDO:0021037 Orphanet:1020 Orphanet:276058 obsolete genetic neurodegenerative disease with dementia +MONDO:0015141 obsolete disorder of medulla oblongata MONDO:0020009 Orphanet:102000 Orphanet:98006 obsolete rare neurologic disease +MONDO:0015143 obsolete rare movement disorder MONDO:0020009 Orphanet:102003 Orphanet:98006 obsolete rare neurologic disease +MONDO:0015144 obsolete brain inflammatory disease MONDO:0015916 Orphanet:102005 Orphanet:182064 obsolete rare neuroinflammatory or neuroimmunological disease +MONDO:0015145 obsolete neurovascular malformation MONDO:0019110 Orphanet:102006 Orphanet:71281 obsolete rare central nervous system or retinal vascular disease +MONDO:0015147 obsolete other syndrome with lissencephaly as a major feature MONDO:0018838 Orphanet:102010 Orphanet:48471 lissencephaly spectrum disorders +MONDO:0015153 obsolete autosomal monosomy MONDO:0020049 Orphanet:102020 Orphanet:98127 autosomal anomaly +MONDO:0015159 multiple congenital anomalies/dysmorphic syndrome-intellectual disability MONDO:0015162 Orphanet:102283 Orphanet:102369 obsolete rare syndromic intellectual disability +MONDO:0015162 obsolete rare syndromic intellectual disability MONDO:0019491 Orphanet:102369 Orphanet:87277 obsolete rare intellectual disability +MONDO:0015166 acute myeloid leukemia with t(8;21)(q22;q22) translocation MONDO:0020078 Orphanet:102724 Orphanet:98277 obsolete acute myeloid leukemia with recurrent genetic anomaly +MONDO:0015167 amniotic band syndrome MONDO:0034668 Orphanet:295000 Orphanet:498461 obsolete terminal transverse limb defect +MONDO:0015167 amniotic band syndrome MONDO:8000032 Orphanet:295000 Orphanet:377789 obsolete malformation syndrome +MONDO:0015169 chronic diarrhea due to glucoamylase deficiency MONDO:0015181 Orphanet:103907 Orphanet:104006 obsolete congenital intestinal disease due to an enzymatic defect +MONDO:0015170 congenital sodium diarrhea MONDO:0015178 Orphanet:103908 Orphanet:104003 obsolete congenital intestinal transport defect +MONDO:0015170 congenital sodium diarrhea MONDO:0019126 Orphanet:103908 Orphanet:73014 obsolete intractable diarrhea of infancy +MONDO:0015170 congenital sodium diarrhea MONDO:0031697 Orphanet:103908 Orphanet:363300 obsolete genetic intractable diarrhea of infancy +MONDO:0015171 congenital enterocyte heparan sulfate deficiency MONDO:0015182 Orphanet:103910 Orphanet:104007 obsolete congenital enteropathy involving intestinal mucosa development +MONDO:0015175 autoimmune pancreatitis MONDO:0015112 Orphanet:103919 Orphanet:101937 obsolete rare pancreatic disease +MONDO:0015176 undetermined colitis MONDO:0015187 Orphanet:103920 Orphanet:104012 obsolete rare inflammatory bowel disease +MONDO:0015177 metaphyseal anadysplasia MONDO:0019693 Orphanet:1040 Orphanet:93430 obsolete multiple metaphyseal dysplasia +MONDO:0015178 obsolete congenital intestinal transport defect MONDO:0015245 Orphanet:104003 Orphanet:117569 obsolete rare intestinal disease +MONDO:0015178 obsolete congenital intestinal transport defect MONDO:0015616 Orphanet:104003 Orphanet:165655 obsolete rare genetic intestinal disease +MONDO:0015179 obsolete intestinal disease due to vitamin absorption anomaly MONDO:0015245 Orphanet:104004 Orphanet:117569 obsolete rare intestinal disease +MONDO:0015179 obsolete intestinal disease due to vitamin absorption anomaly MONDO:0015616 Orphanet:104004 Orphanet:165655 obsolete rare genetic intestinal disease +MONDO:0015180 obsolete intestinal disease due to fat malabsorption MONDO:0015245 Orphanet:104005 Orphanet:117569 obsolete rare intestinal disease +MONDO:0015181 obsolete congenital intestinal disease due to an enzymatic defect MONDO:0015245 Orphanet:104006 Orphanet:117569 obsolete rare intestinal disease +MONDO:0015181 obsolete congenital intestinal disease due to an enzymatic defect MONDO:0015616 Orphanet:104006 Orphanet:165655 obsolete rare genetic intestinal disease +MONDO:0015182 obsolete congenital enteropathy involving intestinal mucosa development MONDO:0015245 Orphanet:104007 Orphanet:117569 obsolete rare intestinal disease +MONDO:0015182 obsolete congenital enteropathy involving intestinal mucosa development MONDO:0015616 Orphanet:104007 Orphanet:165655 obsolete rare genetic intestinal disease +MONDO:0015183 short bowel syndrome MONDO:0015245 Orphanet:104008 Orphanet:117569 obsolete rare intestinal disease +MONDO:0015184 obsolete rare disease involving intestinal motility MONDO:0015245 Orphanet:104009 Orphanet:117569 obsolete rare intestinal disease +MONDO:0015184 obsolete rare disease involving intestinal motility MONDO:0015616 Orphanet:104009 Orphanet:165655 obsolete rare genetic intestinal disease +MONDO:0015185 intestinal polyposis syndrome MONDO:0018538 Orphanet:104010 Orphanet:425003 obsolete inherited digestive cancer-predisposing syndrome +MONDO:0015186 obsolete rare tumor of intestine MONDO:0015245 Orphanet:104011 Orphanet:117569 obsolete rare intestinal disease +MONDO:0015186 obsolete rare tumor of intestine MONDO:0020033 Orphanet:104011 Orphanet:98059 obsolete rare digestive tumor +MONDO:0015187 obsolete rare inflammatory bowel disease MONDO:0015245 Orphanet:104012 Orphanet:117569 obsolete rare intestinal disease +MONDO:0015188 obsolete metabolic disorder with intestinal involvement MONDO:0015245 Orphanet:104013 Orphanet:117569 obsolete rare intestinal disease +MONDO:0015188 obsolete metabolic disorder with intestinal involvement MONDO:0015616 Orphanet:104013 Orphanet:165655 obsolete rare genetic intestinal disease +MONDO:0015191 myopathic intestinal pseudoobstruction MONDO:8000031 Orphanet:104077 Orphanet:557494 obsolete subtype of a disorder +MONDO:0015192 obsolete unclassified intestinal pseudoobstruction MONDO:0017574 Orphanet:104078 Orphanet:2978 chronic intestinal pseudoobstruction +MONDO:0015192 obsolete unclassified intestinal pseudoobstruction MONDO:8000031 Orphanet:104078 Orphanet:557494 obsolete subtype of a disorder +MONDO:0015193 hydrops fetalis MONDO:8000032 Orphanet:1041 Orphanet:377789 obsolete malformation syndrome +MONDO:0015194 sideroblastic anemia MONDO:0015223 Orphanet:1047 Orphanet:108997 obsolete rare anemia +MONDO:0015195 atresia of urethra MONDO:8000030 Orphanet:105 Orphanet:377791 obsolete morphological anomaly +MONDO:0015196 vein of Galen aneurysm MONDO:0015145 Orphanet:1053 Orphanet:102006 obsolete neurovascular malformation +MONDO:0015196 vein of Galen aneurysm MONDO:0016229 Orphanet:1053 Orphanet:211240 obsolete hereditary vascular anomaly +MONDO:0015196 vein of Galen aneurysm MONDO:0016234 Orphanet:1053 Orphanet:211266 obsolete rare arteriovenous malformation +MONDO:0015196 vein of Galen aneurysm MONDO:0031949 Orphanet:1053 Orphanet:371436 obsolete genetic neurovascular malformation +MONDO:0015196 vein of Galen aneurysm MONDO:8000030 Orphanet:1053 Orphanet:377791 obsolete morphological anomaly +MONDO:0015197 aneurysm of sinus of Valsalva MONDO:0020293 Orphanet:1054 Orphanet:98725 obsolete ascending aorta anomaly +MONDO:0015197 aneurysm of sinus of Valsalva MONDO:8000030 Orphanet:1054 Orphanet:377791 obsolete morphological anomaly +MONDO:0015198 aniridia-ptosis-intellectual disability-familial obesity syndrome MONDO:0020148 Orphanet:1067 Orphanet:98557 obsolete syndromic aniridia +MONDO:0015198 aniridia-ptosis-intellectual disability-familial obesity syndrome MONDO:0035863 Orphanet:1067 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0015198 aniridia-ptosis-intellectual disability-familial obesity syndrome MONDO:8000032 Orphanet:1067 Orphanet:377789 obsolete malformation syndrome +MONDO:0015199 aniridia - intellectual disability syndrome MONDO:0020148 Orphanet:1068 Orphanet:98557 obsolete syndromic aniridia +MONDO:0015199 aniridia - intellectual disability syndrome MONDO:0020225 Orphanet:1068 Orphanet:98641 obsolete syndromic cataract +MONDO:0015199 aniridia - intellectual disability syndrome MONDO:0034937 Orphanet:1068 Orphanet:519292 obsolete syndromic ectopia lentis +MONDO:0015199 aniridia - intellectual disability syndrome MONDO:0035863 Orphanet:1068 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0015199 aniridia - intellectual disability syndrome MONDO:8000032 Orphanet:1068 Orphanet:377789 obsolete malformation syndrome +MONDO:0015200 anisakiasis MONDO:0015577 Orphanet:1070 Orphanet:163588 obsolete rare parasitic disease +MONDO:0015201 ankyloblepharon filiforme-imperforate anus syndrome MONDO:8000031 Orphanet:1074 Orphanet:557494 obsolete subtype of a disorder +MONDO:0015204 microlissencephaly MONDO:0016055 Orphanet:1083 Orphanet:199639 obsolete syndrome with corpus callosum agenesis /dysgenesis as a major feature +MONDO:0015204 microlissencephaly MONDO:0017122 Orphanet:1083 Orphanet:269573 obsolete genetic syndrome with corpus callosum agenesis/dysgenesis as a major feature +MONDO:0015204 microlissencephaly MONDO:8000030 Orphanet:1083 Orphanet:377791 obsolete morphological anomaly +MONDO:0015207 obsolete non-syndromic esophageal malformation MONDO:0019513 Orphanet:108959 Orphanet:88993 obsolete esophageal malformation +MONDO:0015208 obsolete syndromic esophageal malformation MONDO:0019513 Orphanet:108961 Orphanet:88993 obsolete esophageal malformation +MONDO:0015209 obsolete non-syndromic gastroduodenal malformation MONDO:0019998 Orphanet:108963 Orphanet:97944 obsolete gastroduodenal malformation +MONDO:0015210 obsolete syndromic gastroduodenal malformation MONDO:0019998 Orphanet:108965 Orphanet:97944 obsolete gastroduodenal malformation +MONDO:0015211 obsolete non-syndromic intestinal malformation MONDO:0019999 Orphanet:108967 Orphanet:97945 obsolete intestinal malformation +MONDO:0015212 obsolete syndromic intestinal malformation MONDO:0019999 Orphanet:108969 Orphanet:97945 obsolete intestinal malformation +MONDO:0015213 obsolete non-syndromic visceral malformation MONDO:0020020 Orphanet:108971 Orphanet:98041 obsolete visceral malformation of the liver, biliary tract, pancreas or spleen +MONDO:0015213 obsolete non-syndromic visceral malformation MONDO:0026184 Orphanet:108971 Orphanet:183548 obsolete genetic visceral malformation of the liver, biliary tract, pancreas or spleen +MONDO:0015214 obsolete syndromic visceral malformation MONDO:0020020 Orphanet:108973 Orphanet:98041 obsolete visceral malformation of the liver, biliary tract, pancreas or spleen +MONDO:0015214 obsolete syndromic visceral malformation MONDO:0026184 Orphanet:108973 Orphanet:183548 obsolete genetic visceral malformation of the liver, biliary tract, pancreas or spleen +MONDO:0015215 obsolete non-syndromic diaphragmatic or abdominal wall malformation MONDO:0020021 Orphanet:108977 Orphanet:98043 obsolete diaphragmatic or abdominal wall malformation +MONDO:0015216 obsolete syndromic diaphragmatic or abdominal wall malformation MONDO:0020021 Orphanet:108979 Orphanet:98043 obsolete diaphragmatic or abdominal wall malformation +MONDO:0015219 obsolete non-syndromic central nervous system malformation MONDO:0020022 Orphanet:108989 Orphanet:98044 central nervous system malformation +MONDO:0015220 obsolete syndrome with a central nervous system malformation as major feature MONDO:0020022 Orphanet:108991 Orphanet:98044 central nervous system malformation +MONDO:0015221 obsolete non-syndromic respiratory or mediastinal malformation MONDO:0020002 Orphanet:108993 Orphanet:97962 obsolete rare surgical thoracic disease +MONDO:0015221 obsolete non-syndromic respiratory or mediastinal malformation MONDO:0020023 Orphanet:108993 Orphanet:98045 obsolete respiratory or mediastinal malformation +MONDO:0015221 obsolete non-syndromic respiratory or mediastinal malformation MONDO:0026185 Orphanet:108993 Orphanet:183554 obsolete genetic respiratory or mediastinal malformation +MONDO:0015222 obsolete syndromic respiratory or mediastinal malformation MONDO:0020002 Orphanet:108995 Orphanet:97962 obsolete rare surgical thoracic disease +MONDO:0015222 obsolete syndromic respiratory or mediastinal malformation MONDO:0020023 Orphanet:108995 Orphanet:98045 obsolete respiratory or mediastinal malformation +MONDO:0015223 obsolete rare anemia MONDO:0005570 Orphanet:108997 Orphanet:97992 hematologic disorder +MONDO:0015224 obsolete rare intoxication MONDO:8000033 Orphanet:108999 Orphanet:557492 obsolete group of disorders +MONDO:0015225 arthrogryposis syndrome MONDO:0015226 Orphanet:109007 Orphanet:109009 obsolete syndrome with limb malformations as a major feature +MONDO:0015226 obsolete syndrome with limb malformations as a major feature MONDO:0019054 Orphanet:109009 Orphanet:68378 congenital limb malformation +MONDO:0015227 obsolete non-syndromic limb malformation MONDO:0019054 Orphanet:109011 Orphanet:68378 congenital limb malformation +MONDO:0015227 obsolete non-syndromic limb malformation MONDO:0026180 Orphanet:109011 Orphanet:183536 obsolete genetic congenital limb malformation +MONDO:0015228 pentasomy X MONDO:0017002 Orphanet:11 Orphanet:263723 obsolete polysomy of X chromosome +MONDO:0015228 pentasomy X MONDO:8000032 Orphanet:11 Orphanet:377789 obsolete malformation syndrome +MONDO:0015229 Bardet-Biedl syndrome MONDO:0015184 Orphanet:110 Orphanet:104009 obsolete rare disease involving intestinal motility +MONDO:0015229 Bardet-Biedl syndrome MONDO:0015890 Orphanet:110 Orphanet:181387 obsolete rare disorder with congenital hypogonadotropic hypogonadism +MONDO:0015229 Bardet-Biedl syndrome MONDO:0016565 Orphanet:110 Orphanet:240371 obsolete syndromic genetic obesity +MONDO:0015229 Bardet-Biedl syndrome MONDO:0020240 Orphanet:110 Orphanet:98661 obsolete syndromic retinitis pigmentosa +MONDO:0015229 Bardet-Biedl syndrome MONDO:0022405 Orphanet:110 Orphanet:156180 obsolete retinal ciliopathy due to mutation in nephronophthisis gene +MONDO:0015229 Bardet-Biedl syndrome MONDO:0022407 Orphanet:110 Orphanet:156183 obsolete retinal ciliopathy due to mutation in Bardet-Biedl gene +MONDO:0015229 Bardet-Biedl syndrome MONDO:0022409 Orphanet:110 Orphanet:156162 obsolete nephropathy-associated ciliopathy +MONDO:0015229 Bardet-Biedl syndrome MONDO:0032221 Orphanet:110 Orphanet:399846 obsolete rare disorder with female infertility due to a congenital hypogonadotropic hypogonadism +MONDO:0015229 Bardet-Biedl syndrome MONDO:0035340 Orphanet:110 Orphanet:557866 obsolete rare disorder with hirschsprung disease as a major feature +MONDO:0015229 Bardet-Biedl syndrome MONDO:0035863 Orphanet:110 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0015230 anophthalmia-megalocornea-cardiopathy-skeletal anomalies syndrome MONDO:0043008 Orphanet:1101 Orphanet:330206 obsolete genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability +MONDO:0015230 anophthalmia-megalocornea-cardiopathy-skeletal anomalies syndrome MONDO:8000032 Orphanet:1101 Orphanet:377789 obsolete malformation syndrome +MONDO:0015231 Bartter syndrome MONDO:0019744 Orphanet:112 Orphanet:93603 obsolete rare renal tubular disease +MONDO:0015232 radial deficiency-tibial hypoplasia syndrome MONDO:0017433 Orphanet:1121 Orphanet:294957 obsolete dysostosis with combined reduction defects of upper and lower limbs +MONDO:0015232 radial deficiency-tibial hypoplasia syndrome MONDO:8000032 Orphanet:1121 Orphanet:377789 obsolete malformation syndrome +MONDO:0015233 caudal appendage-deafness syndrome MONDO:0019589 Orphanet:1123 Orphanet:90642 obsolete syndromic genetic hearing loss +MONDO:0015233 caudal appendage-deafness syndrome MONDO:0035863 Orphanet:1123 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0015233 caudal appendage-deafness syndrome MONDO:8000032 Orphanet:1123 Orphanet:377789 obsolete malformation syndrome +MONDO:0015234 arachnodactyly-abnormal ossification-intellectual disability syndrome MONDO:0020253 Orphanet:1129 Orphanet:98683 obsolete syndrome with a symptomatic strabismus +MONDO:0015234 arachnodactyly-abnormal ossification-intellectual disability syndrome MONDO:0035863 Orphanet:1129 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0015234 arachnodactyly-abnormal ossification-intellectual disability syndrome MONDO:8000032 Orphanet:1129 Orphanet:377789 obsolete malformation syndrome +MONDO:0015235 arachnodactyly-intellectual disability-dysmorphism syndrome MONDO:0035863 Orphanet:1130 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0015235 arachnodactyly-intellectual disability-dysmorphism syndrome MONDO:8000032 Orphanet:1130 Orphanet:377789 obsolete malformation syndrome +MONDO:0015236 aortic arch defects MONDO:0015222 Orphanet:1132 Orphanet:108995 obsolete syndromic respiratory or mediastinal malformation +MONDO:0015236 aortic arch defects MONDO:0015930 Orphanet:1132 Orphanet:182111 obsolete respiratory malformation +MONDO:0015237 arrhinia MONDO:0015503 Orphanet:1134 Orphanet:156246 obsolete nose and cavum anomaly +MONDO:0015237 arrhinia MONDO:8000032 Orphanet:1134 Orphanet:377789 obsolete malformation syndrome +MONDO:0015238 arrhinia-choanal atresia-microphthalmia syndrome MONDO:0015503 Orphanet:1135 Orphanet:156246 obsolete nose and cavum anomaly +MONDO:0015238 arrhinia-choanal atresia-microphthalmia syndrome MONDO:0033334 Orphanet:1135 Orphanet:435606 obsolete genetic nose and cavum anomaly +MONDO:0015238 arrhinia-choanal atresia-microphthalmia syndrome MONDO:0043008 Orphanet:1135 Orphanet:330206 obsolete genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability +MONDO:0015238 arrhinia-choanal atresia-microphthalmia syndrome MONDO:8000032 Orphanet:1135 Orphanet:377789 obsolete malformation syndrome +MONDO:0015240 digitotalar dysmorphism MONDO:0043008 Orphanet:1146 Orphanet:330206 obsolete genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability +MONDO:0015240 digitotalar dysmorphism MONDO:8000032 Orphanet:1146 Orphanet:377789 obsolete malformation syndrome +MONDO:0015241 arthrogryposis-like syndrome MONDO:8000032 Orphanet:1149 Orphanet:377789 obsolete malformation syndrome +MONDO:0015243 allergic bronchopulmonary aspergillosis MONDO:0015118 Orphanet:1164 Orphanet:101944 obsolete rare pulmonary disease +MONDO:0015243 allergic bronchopulmonary aspergillosis MONDO:0020028 Orphanet:1164 Orphanet:98052 obsolete rare allergic respiratory disease +MONDO:0015244 autosomal recessive cerebellar ataxia MONDO:0020139 Orphanet:1172 Orphanet:98539 obsolete early-onset ataxia with dementia +MONDO:0015245 obsolete rare intestinal disease MONDO:0019997 Orphanet:117569 Orphanet:97935 obsolete rare gastroenterologic disease +MONDO:0015246 obsolete syndromic anorectal malformation MONDO:0019938 Orphanet:117573 Orphanet:96346 anorectal malformation +MONDO:0015247 opsoclonus-myoclonus syndrome MONDO:0015144 Orphanet:1183 Orphanet:102005 obsolete brain inflammatory disease +MONDO:0015247 opsoclonus-myoclonus syndrome MONDO:0017652 Orphanet:1183 Orphanet:306753 obsolete rare disease with myoclonus as a major feature +MONDO:0015247 opsoclonus-myoclonus syndrome MONDO:0034961 Orphanet:1183 Orphanet:519341 obsolete rare brainstem or cerebellar disorder with ophthalmic involvement as a major feature +MONDO:0015248 ataxia-photosensitivity-short stature syndrome MONDO:0035863 Orphanet:1184 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0015248 ataxia-photosensitivity-short stature syndrome MONDO:8000032 Orphanet:1184 Orphanet:377789 obsolete malformation syndrome +MONDO:0015249 mitral atresia disorder MONDO:8000030 Orphanet:1205 Orphanet:377791 obsolete morphological anomaly +MONDO:0015250 spinal atrophy-ophthalmoplegia-pyramidal syndrome MONDO:0016116 Orphanet:1217 Orphanet:206710 obsolete generalized bulbospinal muscular atrophy +MONDO:0015252 severe microbrachycephaly-intellectual disability-athetoid cerebral palsy syndrome MONDO:0035863 Orphanet:1236 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0015252 severe microbrachycephaly-intellectual disability-athetoid cerebral palsy syndrome MONDO:8000032 Orphanet:1236 Orphanet:377789 obsolete malformation syndrome +MONDO:0015253 Diamond-Blackfan anemia MONDO:0015335 Orphanet:124 Orphanet:139039 obsolete Mendelian syndromes with cleft lip/palate +MONDO:0015253 Diamond-Blackfan anemia MONDO:0015945 Orphanet:124 Orphanet:183422 obsolete polymalformative genetic syndrome with increased risk of developing cancer +MONDO:0015253 Diamond-Blackfan anemia MONDO:0035862 Orphanet:124 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome +MONDO:0015254 schistosomiasis MONDO:0015577 Orphanet:1247 Orphanet:163588 obsolete rare parasitic disease +MONDO:0015259 brachydactyly-mesomelia-intellectual disability-heart defects syndrome MONDO:0035863 Orphanet:1277 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0015259 brachydactyly-mesomelia-intellectual disability-heart defects syndrome MONDO:8000032 Orphanet:1277 Orphanet:377789 obsolete malformation syndrome +MONDO:0015260 diphyllobothriasis MONDO:0015577 Orphanet:128 Orphanet:163588 obsolete rare parasitic disease +MONDO:0015263 Brugada syndrome MONDO:0015110 Orphanet:130 Orphanet:101934 obsolete genetic cardiac rhythm disease +MONDO:0015265 bronchiolitis obliterans syndrome MONDO:0015118 Orphanet:1303 Orphanet:101944 obsolete rare pulmonary disease +MONDO:0015267 Feingold syndrome MONDO:0015208 Orphanet:1305 Orphanet:108961 obsolete syndromic esophageal malformation +MONDO:0015267 Feingold syndrome MONDO:0015210 Orphanet:1305 Orphanet:108965 obsolete syndromic gastroduodenal malformation +MONDO:0015267 Feingold syndrome MONDO:0015221 Orphanet:1305 Orphanet:108993 obsolete non-syndromic respiratory or mediastinal malformation +MONDO:0015267 Feingold syndrome MONDO:0015246 Orphanet:1305 Orphanet:117573 obsolete syndromic anorectal malformation +MONDO:0015267 Feingold syndrome MONDO:0031952 Orphanet:1305 Orphanet:371445 obsolete genetic syndromic esophageal malformation +MONDO:0015267 Feingold syndrome MONDO:0035863 Orphanet:1305 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0015267 Feingold syndrome MONDO:0800094 Orphanet:1305 Orphanet:498454 obsolete dysostosis with brachydactyly with extraskeletal manifestations +MONDO:0015267 Feingold syndrome MONDO:8000032 Orphanet:1305 Orphanet:377789 obsolete malformation syndrome +MONDO:0015268 medullary sponge kidney MONDO:0019720 Orphanet:1309 Orphanet:93546 obsolete non-syndromic renal or urinary tract malformation +MONDO:0015268 medullary sponge kidney MONDO:8000030 Orphanet:1309 Orphanet:377791 obsolete morphological anomaly +MONDO:0015269 symmetrical thalamic calcifications MONDO:0020009 Orphanet:1314 Orphanet:98006 obsolete rare neurologic disease +MONDO:0015271 idiopathic camptocormia MONDO:8000030 Orphanet:1320 Orphanet:377791 obsolete morphological anomaly +MONDO:0015272 camptodactyly-taurinuria syndrome MONDO:0015226 Orphanet:1325 Orphanet:109009 obsolete syndrome with limb malformations as a major feature +MONDO:0015272 camptodactyly-taurinuria syndrome MONDO:8000032 Orphanet:1325 Orphanet:377789 obsolete malformation syndrome +MONDO:0015273 complete atrioventricular canal MONDO:8000030 Orphanet:1329 Orphanet:377791 obsolete morphological anomaly +MONDO:0015275 partial atrioventricular canal MONDO:8000030 Orphanet:1330 Orphanet:377791 obsolete morphological anomaly +MONDO:0015278 familial pancreatic carcinoma MONDO:0015618 Orphanet:1333 Orphanet:165661 obsolete genetic pancreatic disease +MONDO:0015278 familial pancreatic carcinoma MONDO:0016314 Orphanet:1333 Orphanet:217074 obsolete rare carcinoma of pancreas +MONDO:0015279 chronic mucocutaneous candidiasis MONDO:0019305 Orphanet:1334 Orphanet:79391 obsolete immune deficiency with skin involvement +MONDO:0015279 chronic mucocutaneous candidiasis MONDO:0026166 Orphanet:1334 Orphanet:183494 obsolete genetic immune deficiency with skin involvement +MONDO:0015280 cardiofaciocutaneous syndrome MONDO:0026989 Orphanet:1340 Orphanet:217595 obsolete syndrome associated with hypertrophic cardiomyopathy +MONDO:0015280 cardiofaciocutaneous syndrome MONDO:0035471 Orphanet:1340 Orphanet:568047 obsolete disorder with multisystemic involvement and primary lymphedema +MONDO:0015280 cardiofaciocutaneous syndrome MONDO:0035863 Orphanet:1340 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0015280 cardiofaciocutaneous syndrome MONDO:8000032 Orphanet:1340 Orphanet:377789 obsolete malformation syndrome +MONDO:0015281 atrial standstill MONDO:0015110 Orphanet:1344 Orphanet:101934 obsolete genetic cardiac rhythm disease +MONDO:0015282 cardiomyopathy-cataract-hip spine disease syndrome MONDO:0016337 Orphanet:1345 Orphanet:217619 obsolete syndrome associated with dilated cardiomyopathy +MONDO:0015282 cardiomyopathy-cataract-hip spine disease syndrome MONDO:0020225 Orphanet:1345 Orphanet:98641 obsolete syndromic cataract +MONDO:0015283 maternally-inherited cardiomyopathy and hearing loss MONDO:0016327 Orphanet:1349 Orphanet:217587 obsolete mitochondrial disease with hypertrophic cardiomyopathy +MONDO:0015283 maternally-inherited cardiomyopathy and hearing loss MONDO:0016793 Orphanet:1349 Orphanet:254776 obsolete mitochondrial oxidative phosphorylation disorder due to a point mutation of mitochondrial DNA +MONDO:0015283 maternally-inherited cardiomyopathy and hearing loss MONDO:8000032 Orphanet:1349 Orphanet:377789 obsolete malformation syndrome +MONDO:0015284 heart-hand syndrome type 2 MONDO:0015110 Orphanet:1350 Orphanet:101934 obsolete genetic cardiac rhythm disease +MONDO:0015284 heart-hand syndrome type 2 MONDO:0043008 Orphanet:1350 Orphanet:330206 obsolete genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability +MONDO:0015284 heart-hand syndrome type 2 MONDO:8000032 Orphanet:1350 Orphanet:377789 obsolete malformation syndrome +MONDO:0015285 Carney complex MONDO:0015673 Orphanet:1359 Orphanet:168194 obsolete rare cardiac tumor +MONDO:0015285 Carney complex MONDO:0017129 Orphanet:1359 Orphanet:271841 obsolete inherited cardiac tumor +MONDO:0015285 Carney complex MONDO:0017820 Orphanet:1359 Orphanet:314749 obsolete obsolete disease with Cushing syndrome as a major feature +MONDO:0015293 segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndrome MONDO:0016235 Orphanet:137608 Orphanet:211277 obsolete complex vascular malformation with associated anomalies +MONDO:0015293 segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndrome MONDO:0017414 Orphanet:137608 Orphanet:294057 obsolete rare nevus +MONDO:0015293 segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndrome MONDO:0033927 Orphanet:137608 Orphanet:459537 obsolete genetic complex vascular malformation with associated anomalies +MONDO:0015293 segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndrome MONDO:8000032 Orphanet:137608 Orphanet:377789 obsolete malformation syndrome +MONDO:0015294 nephrogenic systemic fibrosis MONDO:0019546 Orphanet:137617 Orphanet:90077 obsolete other acquired skin disease +MONDO:0015295 intractable diarrhea-choanal atresia-eye anomalies syndrome MONDO:0015503 Orphanet:137622 Orphanet:156246 obsolete nose and cavum anomaly +MONDO:0015295 intractable diarrhea-choanal atresia-eye anomalies syndrome MONDO:0019126 Orphanet:137622 Orphanet:73014 obsolete intractable diarrhea of infancy +MONDO:0015295 intractable diarrhea-choanal atresia-eye anomalies syndrome MONDO:0031697 Orphanet:137622 Orphanet:363300 obsolete genetic intractable diarrhea of infancy +MONDO:0015295 intractable diarrhea-choanal atresia-eye anomalies syndrome MONDO:0033334 Orphanet:137622 Orphanet:435606 obsolete genetic nose and cavum anomaly +MONDO:0015295 intractable diarrhea-choanal atresia-eye anomalies syndrome MONDO:8000032 Orphanet:137622 Orphanet:377789 obsolete malformation syndrome +MONDO:0015296 cardiac anomalies-heterotaxy syndrome MONDO:0015506 Orphanet:137628 Orphanet:156532 obsolete rare syndrome with cardiac malformations +MONDO:0015296 cardiac anomalies-heterotaxy syndrome MONDO:8000032 Orphanet:137628 Orphanet:377789 obsolete malformation syndrome +MONDO:0015299 Asherman syndrome MONDO:0015859 Orphanet:137686 Orphanet:180205 obsolete rare non-malformative uterovaginal or vulvovaginal disease +MONDO:0015300 cataract - microcornea syndrome MONDO:0020225 Orphanet:1377 Orphanet:98641 obsolete syndromic cataract +MONDO:0015300 cataract - microcornea syndrome MONDO:8000032 Orphanet:1377 Orphanet:377789 obsolete malformation syndrome +MONDO:0015304 arachnoiditis MONDO:0020009 Orphanet:137817 Orphanet:98006 obsolete rare neurologic disease MONDO:0015305 obsolete rare endometriosis MONDO:0000001 Orphanet:137820 Orphanet:377788 disease +MONDO:0015305 obsolete rare endometriosis MONDO:0015857 Orphanet:137820 Orphanet:180199 obsolete rare non-malformative gynecologic or obstetric disease +MONDO:0015306 Lemierre syndrome MONDO:0015575 Orphanet:137839 Orphanet:163582 obsolete rare bacterial infectious disease +MONDO:0015310 obsolete syndromic optic nerve hypoplasia MONDO:0020145 Orphanet:137905 Orphanet:98553 obsolete developmental defect of the eye +MONDO:0015310 obsolete syndromic optic nerve hypoplasia MONDO:0026186 Orphanet:137905 Orphanet:183557 obsolete genetic developmental defect of the eye +MONDO:0015312 choanal atresia, unilateral MONDO:8000031 Orphanet:137917 Orphanet:557494 obsolete subtype of a disorder +MONDO:0015313 choanal atresia, bilateral MONDO:8000031 Orphanet:137920 Orphanet:557494 obsolete subtype of a disorder +MONDO:0015314 primary laryngeal lymphangioma MONDO:0015504 Orphanet:137926 Orphanet:156249 obsolete larynx anomaly +MONDO:0015314 primary laryngeal lymphangioma MONDO:8000032 Orphanet:137926 Orphanet:377789 obsolete malformation syndrome +MONDO:0015315 neonatal brainstem dysfunction MONDO:0020009 Orphanet:137929 Orphanet:98006 obsolete rare neurologic disease +MONDO:0015316 congenital laryngeal palsy MONDO:0015504 Orphanet:137932 Orphanet:156249 obsolete larynx anomaly +MONDO:0015316 congenital laryngeal palsy MONDO:8000032 Orphanet:137932 Orphanet:377789 obsolete malformation syndrome +MONDO:0015317 laryngotracheal angioma MONDO:0015504 Orphanet:137935 Orphanet:156249 obsolete larynx anomaly +MONDO:0015319 obsolete rare disease with Pierre Robin syndrome MONDO:0015501 Orphanet:138044 Orphanet:156237 obsolete syndrome or malformation associated with head and neck malformations +MONDO:0015323 obsolete teratogenic Pierre Robin syndrome MONDO:0015319 Orphanet:138059 Orphanet:138044 obsolete rare disease with Pierre Robin syndrome +MONDO:0015324 cataract-intellectual disability-anal atresia-urinary defects syndrome MONDO:0015246 Orphanet:1381 Orphanet:117573 obsolete syndromic anorectal malformation +MONDO:0015324 cataract-intellectual disability-anal atresia-urinary defects syndrome MONDO:0020225 Orphanet:1381 Orphanet:98641 obsolete syndromic cataract +MONDO:0015324 cataract-intellectual disability-anal atresia-urinary defects syndrome MONDO:0020253 Orphanet:1381 Orphanet:98683 obsolete syndrome with a symptomatic strabismus +MONDO:0015324 cataract-intellectual disability-anal atresia-urinary defects syndrome MONDO:0035863 Orphanet:1381 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0015324 cataract-intellectual disability-anal atresia-urinary defects syndrome MONDO:8000032 Orphanet:1381 Orphanet:377789 obsolete malformation syndrome +MONDO:0015325 cataract-deafness-hypogonadism syndrome MONDO:0019589 Orphanet:1383 Orphanet:90642 obsolete syndromic genetic hearing loss +MONDO:0015325 cataract-deafness-hypogonadism syndrome MONDO:0020225 Orphanet:1383 Orphanet:98641 obsolete syndromic cataract +MONDO:0015325 cataract-deafness-hypogonadism syndrome MONDO:0035863 Orphanet:1383 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0015325 cataract-deafness-hypogonadism syndrome MONDO:8000032 Orphanet:1383 Orphanet:377789 obsolete malformation syndrome +MONDO:0015326 night blindness-skeletal anomalies-dysmorphism syndrome MONDO:0043008 Orphanet:1390 Orphanet:330206 obsolete genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability +MONDO:0015326 night blindness-skeletal anomalies-dysmorphism syndrome MONDO:8000032 Orphanet:1390 Orphanet:377789 obsolete malformation syndrome +MONDO:0015327 developmental anomaly of metabolic origin MONDO:0015960 Orphanet:139009 Orphanet:183530 obsolete rare genetic developmental defect during embryogenesis +MONDO:0015328 obsolete rare bone development disorder MONDO:0019755 Orphanet:139012 Orphanet:93890 developmental defect during embryogenesis +MONDO:0015329 obsolete malformation syndrome with short stature MONDO:0019755 Orphanet:139021 Orphanet:93890 developmental defect during embryogenesis +MONDO:0015330 obsolete overgrowth/obesity syndrome MONDO:0019755 Orphanet:139024 Orphanet:93890 developmental defect during embryogenesis +MONDO:0015331 obsolete malformation syndrome with skin/mucosae involvement MONDO:0015960 Orphanet:139027 Orphanet:183530 obsolete rare genetic developmental defect during embryogenesis +MONDO:0015331 obsolete malformation syndrome with skin/mucosae involvement MONDO:0019755 Orphanet:139027 Orphanet:93890 developmental defect during embryogenesis +MONDO:0015332 obsolete rare developmental defect with connective tissue involvement MONDO:0015960 Orphanet:139030 Orphanet:183530 obsolete rare genetic developmental defect during embryogenesis +MONDO:0015332 obsolete rare developmental defect with connective tissue involvement MONDO:0019755 Orphanet:139030 Orphanet:93890 developmental defect during embryogenesis +MONDO:0015334 obsolete branchial arch or oral-acral syndrome MONDO:0019755 Orphanet:139036 Orphanet:93890 developmental defect during embryogenesis +MONDO:0015335 obsolete Mendelian syndromes with cleft lip/palate MONDO:0015501 Orphanet:139039 Orphanet:156237 obsolete syndrome or malformation associated with head and neck malformations +MONDO:0015336 obsolete malformation syndrome with odontal and/or periodontal component MONDO:0019755 Orphanet:139042 Orphanet:93890 developmental defect during embryogenesis +MONDO:0015336 obsolete malformation syndrome with odontal and/or periodontal component MONDO:0020013 Orphanet:139042 Orphanet:98026 obsolete rare odontologic disease +MONDO:0015339 adrenomyeloneuropathy MONDO:0016133 Orphanet:139399 Orphanet:207018 obsolete rare hereditary metabolic disease with peripheral neuropathy +MONDO:0015339 adrenomyeloneuropathy MONDO:8000031 Orphanet:139399 Orphanet:557494 obsolete subtype of a disorder +MONDO:0015341 congenital panfollicular nevus MONDO:0017414 Orphanet:139414 Orphanet:294057 obsolete rare nevus +MONDO:0015342 acute transverse myelitis MONDO:0015141 Orphanet:139417 Orphanet:102000 obsolete disorder of medulla oblongata +MONDO:0015344 idiopathic acute transverse myelitis MONDO:8000031 Orphanet:139423 Orphanet:557494 obsolete subtype of a disorder +MONDO:0015350 17q11.2 microduplication syndrome MONDO:0035863 Orphanet:139474 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0015350 17q11.2 microduplication syndrome MONDO:8000032 Orphanet:139474 Orphanet:377789 obsolete malformation syndrome +MONDO:0015351 neuropathy with hearing impairment MONDO:0015359 Orphanet:139512 Orphanet:140453 obsolete autosomal dominant hereditary demyelinating motor and sensory neuropathy +MONDO:0015351 neuropathy with hearing impairment MONDO:0019589 Orphanet:139512 Orphanet:90642 obsolete syndromic genetic hearing loss +MONDO:0015354 hereditary sensory and autonomic neuropathy with deafness and global delay MONDO:0015366 Orphanet:139573 Orphanet:140477 obsolete autosomal recessive hereditary sensory and autonomic neuropathy +MONDO:0015356 hereditary neoplastic syndrome MONDO:0016645 Orphanet:140162 Orphanet:250908 obsolete rare neoplastic disease +MONDO:0015356 hereditary neoplastic syndrome MONDO:0021198 Orphanet:140162 Orphanet:98053 obsolete rare genetic disease +MONDO:0015357 secondary hypoparathyroidism due to impaired parathormon secretion MONDO:0015896 Orphanet:140286 Orphanet:181405 obsolete rare hypoparathyroidism +MONDO:0015359 obsolete autosomal dominant hereditary demyelinating motor and sensory neuropathy MONDO:0018776 Orphanet:140453 Orphanet:476116 demyelinating hereditary motor and sensory neuropathy +MONDO:0015360 obsolete autosomal dominant hereditary axonal motor and sensory neuropathy MONDO:0018775 Orphanet:140456 Orphanet:476109 obsolete axonal hereditary motor and sensory neuropathy +MONDO:0015361 obsolete autosomal recessive hereditary demyelinating motor and sensory neuropathy MONDO:0018776 Orphanet:140459 Orphanet:476116 demyelinating hereditary motor and sensory neuropathy +MONDO:0015365 obsolete autosomal dominant hereditary sensory and autonomic neuropathy MONDO:0015364 Orphanet:140474 Orphanet:140471 hereditary sensory and autonomic neuropathy +MONDO:0015366 obsolete autosomal recessive hereditary sensory and autonomic neuropathy MONDO:0015364 Orphanet:140477 Orphanet:140471 hereditary sensory and autonomic neuropathy +MONDO:0015367 Charlie M syndrome MONDO:0015334 Orphanet:1406 Orphanet:139036 obsolete branchial arch or oral-acral syndrome +MONDO:0015367 Charlie M syndrome MONDO:0026189 Orphanet:1406 Orphanet:183576 obsolete genetic branchial arch or oral-acral syndrome +MONDO:0015367 Charlie M syndrome MONDO:0043008 Orphanet:1406 Orphanet:330206 obsolete genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability +MONDO:0015367 Charlie M syndrome MONDO:0800090 Orphanet:1406 Orphanet:498477 obsolete ectrodactyly with and without other manifestations +MONDO:0015367 Charlie M syndrome MONDO:8000032 Orphanet:1406 Orphanet:377789 obsolete malformation syndrome +MONDO:0015368 obsolete neuro-ophthalmological disease MONDO:0035001 Orphanet:140653 Orphanet:520814 obsolete rare disorder of the visual organs +MONDO:0015369 Joubert syndrome and related disorders MONDO:0034961 Orphanet:140874 Orphanet:519341 obsolete rare brainstem or cerebellar disorder with ophthalmic involvement as a major feature +MONDO:0015371 linear atrophoderma of Moulin MONDO:0018798 Orphanet:140933 Orphanet:477808 obsolete other genetic dermis disorder +MONDO:0015372 autosomal dominant macrothrombocytopenia MONDO:0016361 Orphanet:140957 Orphanet:220452 obsolete isolated hereditary giant platelet disorder +MONDO:0015374 primary central nervous system vasculitis MONDO:0015489 Orphanet:140989 Orphanet:156143 obsolete predominantly medium-vessel vasculitis +MONDO:0015374 primary central nervous system vasculitis MONDO:0015490 Orphanet:140989 Orphanet:156146 obsolete predominantly small-vessel vasculitis +MONDO:0015374 primary central nervous system vasculitis MONDO:0015953 Orphanet:140989 Orphanet:183503 obsolete genetic central nervous system and retinal vascular disease +MONDO:0015374 primary central nervous system vasculitis MONDO:0019110 Orphanet:140989 Orphanet:71281 obsolete rare central nervous system or retinal vascular disease +MONDO:0015375 orofaciodigital syndrome MONDO:0015334 Orphanet:140997 Orphanet:139036 obsolete branchial arch or oral-acral syndrome +MONDO:0015375 orofaciodigital syndrome MONDO:0015501 Orphanet:140997 Orphanet:156237 obsolete syndrome or malformation associated with head and neck malformations +MONDO:0015375 orofaciodigital syndrome MONDO:0017434 Orphanet:140997 Orphanet:294959 obsolete syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy +MONDO:0015375 orofaciodigital syndrome MONDO:0026189 Orphanet:140997 Orphanet:183576 obsolete genetic branchial arch or oral-acral syndrome +MONDO:0015375 orofaciodigital syndrome MONDO:0800085 Orphanet:140997 Orphanet:93453 obsolete dysostosis with predominant craniofacial involvement +MONDO:0015376 first branchial cleft anomaly MONDO:8000030 Orphanet:141013 Orphanet:377791 obsolete morphological anomaly +MONDO:0015377 third branchial cleft anomaly MONDO:8000030 Orphanet:141030 Orphanet:377791 obsolete morphological anomaly +MONDO:0015378 fourth branchial cleft anomaly MONDO:8000030 Orphanet:141037 Orphanet:377791 obsolete morphological anomaly +MONDO:0015379 cervical dermoid cyst MONDO:8000030 Orphanet:141046 Orphanet:377791 obsolete morphological anomaly +MONDO:0015380 facial dermoid cyst MONDO:8000030 Orphanet:141051 Orphanet:377791 obsolete morphological anomaly +MONDO:0015381 commissural lip fistula MONDO:8000030 Orphanet:141061 Orphanet:377791 obsolete morphological anomaly +MONDO:0015382 lower lip fistula MONDO:8000030 Orphanet:141064 Orphanet:377791 obsolete morphological anomaly +MONDO:0015383 cervicofacial fibrochondroma MONDO:8000030 Orphanet:141067 Orphanet:377791 obsolete morphological anomaly +MONDO:0015384 digestive duplication cyst of the tongue MONDO:8000030 Orphanet:141071 Orphanet:377791 obsolete morphological anomaly +MONDO:0015385 obsolete external auditory canal aplasia/hypoplasia MONDO:0015502 Orphanet:141074 Orphanet:156243 obsolete pinnae and external auditory canal anomaly +MONDO:0015385 obsolete external auditory canal aplasia/hypoplasia MONDO:8000030 Orphanet:141074 Orphanet:377791 obsolete morphological anomaly +MONDO:0015386 epignathus MONDO:0020035 Orphanet:141077 Orphanet:98061 obsolete rare otorhinolaryngologic tumor +MONDO:0015386 epignathus MONDO:8000031 Orphanet:141077 Orphanet:557494 obsolete subtype of a disorder +MONDO:0015387 nasolacrimal duct cyst MONDO:0015503 Orphanet:141083 Orphanet:156246 obsolete nose and cavum anomaly +MONDO:0015387 nasolacrimal duct cyst MONDO:0020195 Orphanet:141083 Orphanet:98605 obsolete excretory apparatus of the lacrimal system anomaly +MONDO:0015387 nasolacrimal duct cyst MONDO:8000030 Orphanet:141083 Orphanet:377791 obsolete morphological anomaly +MONDO:0015388 polyrrhinia MONDO:0015503 Orphanet:141091 Orphanet:156246 obsolete nose and cavum anomaly +MONDO:0015388 polyrrhinia MONDO:8000032 Orphanet:141091 Orphanet:377789 obsolete malformation syndrome +MONDO:0015389 supernumerary nostril MONDO:0015503 Orphanet:141096 Orphanet:156246 obsolete nose and cavum anomaly +MONDO:0015389 supernumerary nostril MONDO:8000032 Orphanet:141096 Orphanet:377789 obsolete malformation syndrome +MONDO:0015390 proboscis lateralis MONDO:0015503 Orphanet:141099 Orphanet:156246 obsolete nose and cavum anomaly +MONDO:0015390 proboscis lateralis MONDO:8000032 Orphanet:141099 Orphanet:377789 obsolete malformation syndrome +MONDO:0015391 nasopharyngeal teratoma MONDO:0020035 Orphanet:141107 Orphanet:98061 obsolete rare otorhinolaryngologic tumor +MONDO:0015391 nasopharyngeal teratoma MONDO:8000031 Orphanet:141107 Orphanet:557494 obsolete subtype of a disorder +MONDO:0015392 nasal glial heterotopia MONDO:0015503 Orphanet:141112 Orphanet:156246 obsolete nose and cavum anomaly +MONDO:0015392 nasal glial heterotopia MONDO:0020035 Orphanet:141112 Orphanet:98061 obsolete rare otorhinolaryngologic tumor +MONDO:0015393 nasal ganglioglioma MONDO:0020035 Orphanet:141115 Orphanet:98061 obsolete rare otorhinolaryngologic tumor +MONDO:0015393 nasal ganglioglioma MONDO:8000031 Orphanet:141115 Orphanet:557494 obsolete subtype of a disorder +MONDO:0015394 nasal encephalocele MONDO:0015503 Orphanet:141118 Orphanet:156246 obsolete nose and cavum anomaly +MONDO:0015394 nasal encephalocele MONDO:8000031 Orphanet:141118 Orphanet:557494 obsolete subtype of a disorder +MONDO:0015395 congenital subglottic stenosis MONDO:0015504 Orphanet:141121 Orphanet:156249 obsolete larynx anomaly +MONDO:0015395 congenital subglottic stenosis MONDO:8000032 Orphanet:141121 Orphanet:377789 obsolete malformation syndrome +MONDO:0015396 congenital laryngeal cyst MONDO:0015504 Orphanet:141124 Orphanet:156249 obsolete larynx anomaly +MONDO:0015396 congenital laryngeal cyst MONDO:8000030 Orphanet:141124 Orphanet:377791 obsolete morphological anomaly +MONDO:0015397 craniofacial microsomia 1 MONDO:0015334 Orphanet:141132 Orphanet:139036 obsolete branchial arch or oral-acral syndrome +MONDO:0015397 craniofacial microsomia 1 MONDO:0015482 Orphanet:141132 Orphanet:155896 obsolete otomandibular dysplasia +MONDO:0015397 craniofacial microsomia 1 MONDO:0026189 Orphanet:141132 Orphanet:183576 obsolete genetic branchial arch or oral-acral syndrome +MONDO:0015397 craniofacial microsomia 1 MONDO:0043008 Orphanet:141132 Orphanet:330206 obsolete genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability +MONDO:0015397 craniofacial microsomia 1 MONDO:8000032 Orphanet:141132 Orphanet:377789 obsolete malformation syndrome +MONDO:0015399 glossopalatine ankylosis MONDO:8000032 Orphanet:141163 Orphanet:377789 obsolete malformation syndrome +MONDO:0015400 frontonasal arteriovenous malformation MONDO:8000032 Orphanet:141168 Orphanet:377789 obsolete malformation syndrome +MONDO:0015401 maxillary arteriovenous malformation MONDO:8000032 Orphanet:141171 Orphanet:377789 obsolete malformation syndrome +MONDO:0015402 mandibular arteriovenous malformation MONDO:8000032 Orphanet:141174 Orphanet:377789 obsolete malformation syndrome +MONDO:0015405 cerebrofacial arteriovenous metameric syndrome MONDO:0015145 Orphanet:141189 Orphanet:102006 obsolete neurovascular malformation +MONDO:0015405 cerebrofacial arteriovenous metameric syndrome MONDO:0016234 Orphanet:141189 Orphanet:211266 obsolete rare arteriovenous malformation +MONDO:0015406 cerebrofacial arteriovenous metameric syndrome type 1 MONDO:8000032 Orphanet:141194 Orphanet:377789 obsolete malformation syndrome +MONDO:0015407 cerebrofacial arteriovenous metameric syndrome type 3 MONDO:8000032 Orphanet:141199 Orphanet:377789 obsolete malformation syndrome +MONDO:0015408 diffuse lymphatic malformation MONDO:8000032 Orphanet:141209 Orphanet:377789 obsolete malformation syndrome +MONDO:0015409 isolated congenital syngnathia MONDO:0015501 Orphanet:141214 Orphanet:156237 obsolete syndrome or malformation associated with head and neck malformations +MONDO:0015409 isolated congenital syngnathia MONDO:8000032 Orphanet:141214 Orphanet:377789 obsolete malformation syndrome +MONDO:0015410 nasal dorsum fistula/cyst MONDO:8000030 Orphanet:141219 Orphanet:377791 obsolete morphological anomaly +MONDO:0015411 facial cleft MONDO:0015475 Orphanet:141229 Orphanet:155832 obsolete rare head and neck malformation +MONDO:0015411 facial cleft MONDO:0019038 Orphanet:141229 Orphanet:68329 obsolete rare maxillo-facial surgical disease +MONDO:0015412 obsolete median facial cleft MONDO:0015411 Orphanet:141234 Orphanet:141229 facial cleft +MONDO:0015413 median cleft of the upper lip and maxilla MONDO:0015412 Orphanet:141239 Orphanet:141234 obsolete median facial cleft +MONDO:0015413 median cleft of the upper lip and maxilla MONDO:8000030 Orphanet:141239 Orphanet:377791 obsolete morphological anomaly +MONDO:0015414 paramedian nasal cleft MONDO:0015478 Orphanet:141242 Orphanet:155867 obsolete paramedian facial cleft +MONDO:0015414 paramedian nasal cleft MONDO:8000030 Orphanet:141242 Orphanet:377791 obsolete morphological anomaly +MONDO:0015415 obsolete oblique facial cleft MONDO:0015411 Orphanet:141253 Orphanet:141229 facial cleft +MONDO:0015416 Tessier number 5 facial cleft MONDO:0015415 Orphanet:141261 Orphanet:141253 obsolete oblique facial cleft +MONDO:0015416 Tessier number 5 facial cleft MONDO:8000030 Orphanet:141261 Orphanet:377791 obsolete morphological anomaly +MONDO:0015417 Tessier number 6 facial cleft MONDO:0015415 Orphanet:141265 Orphanet:141253 obsolete oblique facial cleft +MONDO:0015417 Tessier number 6 facial cleft MONDO:8000030 Orphanet:141265 Orphanet:377791 obsolete morphological anomaly +MONDO:0015418 obsolete lateral facial cleft MONDO:0015411 Orphanet:141269 Orphanet:141229 facial cleft +MONDO:0015418 obsolete lateral facial cleft MONDO:0033056 Orphanet:141269 Orphanet:414726 obsolete genetic facial cleft +MONDO:0015419 midline cervical cleft MONDO:0015412 Orphanet:141288 Orphanet:141234 obsolete median facial cleft +MONDO:0015419 midline cervical cleft MONDO:8000030 Orphanet:141288 Orphanet:377791 obsolete morphological anomaly +MONDO:0015420 cleft lip and alveolus MONDO:0016034 Orphanet:141291 Orphanet:1991 obsolete cleft lip with or without cleft palate +MONDO:0015420 cleft lip and alveolus MONDO:8000030 Orphanet:141291 Orphanet:377791 obsolete morphological anomaly +MONDO:0015421 orofaciodigital syndrome type 12 MONDO:8000032 Orphanet:141327 Orphanet:377789 obsolete malformation syndrome +MONDO:0015422 orofaciodigital syndrome type 13 MONDO:8000032 Orphanet:141330 Orphanet:377789 obsolete malformation syndrome +MONDO:0015425 lethal recessive chondrodysplasia MONDO:0019718 Orphanet:1423 Orphanet:93465 obsolete lethal chondrodysplasia +MONDO:0015425 lethal recessive chondrodysplasia MONDO:8000032 Orphanet:1423 Orphanet:377789 obsolete malformation syndrome +MONDO:0015426 Desbuquois dysplasia MONDO:0015332 Orphanet:1425 Orphanet:139030 obsolete rare developmental defect with connective tissue involvement +MONDO:0015426 Desbuquois dysplasia MONDO:0020222 Orphanet:1425 Orphanet:98638 obsolete rare disease with glaucoma as a major feature +MONDO:0015426 Desbuquois dysplasia MONDO:0800086 Orphanet:1425 Orphanet:93441 obsolete primary bone dysplasia with multiple joint dislocations +MONDO:0015426 Desbuquois dysplasia MONDO:8000032 Orphanet:1425 Orphanet:377789 obsolete malformation syndrome +MONDO:0015428 choroidal atrophy-alopecia syndrome MONDO:8000032 Orphanet:1433 Orphanet:377789 obsolete malformation syndrome +MONDO:0015430 ring chromosome 1 MONDO:0018186 Orphanet:1437 Orphanet:363203 obsolete ring chromosome +MONDO:0015430 ring chromosome 1 MONDO:8000032 Orphanet:1437 Orphanet:377789 obsolete malformation syndrome +MONDO:0015431 ring chromosome 10 MONDO:0018186 Orphanet:1438 Orphanet:363203 obsolete ring chromosome +MONDO:0015431 ring chromosome 10 MONDO:0035863 Orphanet:1438 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0015431 ring chromosome 10 MONDO:8000032 Orphanet:1438 Orphanet:377789 obsolete malformation syndrome +MONDO:0015432 ring chromosome 12 MONDO:0018186 Orphanet:1439 Orphanet:363203 obsolete ring chromosome +MONDO:0015432 ring chromosome 12 MONDO:8000032 Orphanet:1439 Orphanet:377789 obsolete malformation syndrome +MONDO:0015433 ring chromosome 17 MONDO:0018186 Orphanet:1441 Orphanet:363203 obsolete ring chromosome +MONDO:0015433 ring chromosome 17 MONDO:8000032 Orphanet:1441 Orphanet:377789 obsolete malformation syndrome +MONDO:0015434 ring chromosome 18 MONDO:0018186 Orphanet:1442 Orphanet:363203 obsolete ring chromosome +MONDO:0015434 ring chromosome 18 MONDO:8000032 Orphanet:1442 Orphanet:377789 obsolete malformation syndrome +MONDO:0015435 ring chromosome 19 MONDO:0018186 Orphanet:1443 Orphanet:363203 obsolete ring chromosome +MONDO:0015435 ring chromosome 19 MONDO:8000032 Orphanet:1443 Orphanet:377789 obsolete malformation syndrome +MONDO:0015436 ring chromosome 20 MONDO:0015652 Orphanet:1444 Orphanet:166469 obsolete chromosomal anomaly with epilepsy as a major feature +MONDO:0015436 ring chromosome 20 MONDO:0018186 Orphanet:1444 Orphanet:363203 obsolete ring chromosome +MONDO:0015436 ring chromosome 20 MONDO:8000032 Orphanet:1444 Orphanet:377789 obsolete malformation syndrome +MONDO:0015437 ring chromosome 21 MONDO:0018186 Orphanet:1445 Orphanet:363203 obsolete ring chromosome +MONDO:0015437 ring chromosome 21 MONDO:8000032 Orphanet:1445 Orphanet:377789 obsolete malformation syndrome +MONDO:0015438 ring chromosome 22 MONDO:0018186 Orphanet:1446 Orphanet:363203 obsolete ring chromosome +MONDO:0015438 ring chromosome 22 MONDO:8000032 Orphanet:1446 Orphanet:377789 obsolete malformation syndrome +MONDO:0015439 ring chromosome 4 MONDO:0018186 Orphanet:1447 Orphanet:363203 obsolete ring chromosome +MONDO:0015439 ring chromosome 4 MONDO:8000032 Orphanet:1447 Orphanet:377789 obsolete malformation syndrome +MONDO:0015440 ring chromosome 6 MONDO:0018186 Orphanet:1448 Orphanet:363203 obsolete ring chromosome +MONDO:0015440 ring chromosome 6 MONDO:8000032 Orphanet:1448 Orphanet:377789 obsolete malformation syndrome +MONDO:0015441 ring chromosome 7 MONDO:0018186 Orphanet:1449 Orphanet:363203 obsolete ring chromosome +MONDO:0015441 ring chromosome 7 MONDO:8000032 Orphanet:1449 Orphanet:377789 obsolete malformation syndrome +MONDO:0015443 chromosome 8-derived supernumerary ring/marker MONDO:0018186 Orphanet:1450 Orphanet:363203 obsolete ring chromosome +MONDO:0015443 chromosome 8-derived supernumerary ring/marker MONDO:8000032 Orphanet:1450 Orphanet:377789 obsolete malformation syndrome +MONDO:0015445 autosomal dominant coarctation of aorta MONDO:8000031 Orphanet:1455 Orphanet:557494 obsolete subtype of a disorder +MONDO:0015446 atypical coarctation of aorta MONDO:8000031 Orphanet:1456 Orphanet:557494 obsolete subtype of a disorder +MONDO:0015448 mitochondrial complex III deficiency MONDO:0016805 Orphanet:1460 Orphanet:254846 obsolete isolated oxidative phosphorylation complex disorder +MONDO:0015448 mitochondrial complex III deficiency MONDO:0035862 Orphanet:1460 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome +MONDO:0015449 criss-cross heart MONDO:8000030 Orphanet:1461 Orphanet:377791 obsolete morphological anomaly +MONDO:0015450 triatrial heart MONDO:0020294 Orphanet:1463 Orphanet:98727 obsolete atrial defect and interatrial communication +MONDO:0015451 univentricular heart MONDO:8000030 Orphanet:1464 Orphanet:377791 obsolete morphological anomaly +MONDO:0015452 Coffin-Siris syndrome MONDO:0035863 Orphanet:1465 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0015452 Coffin-Siris syndrome MONDO:0800094 Orphanet:1465 Orphanet:498454 obsolete dysostosis with brachydactyly with extraskeletal manifestations +MONDO:0015452 Coffin-Siris syndrome MONDO:8000032 Orphanet:1465 Orphanet:377789 obsolete malformation syndrome +MONDO:0015453 Cogan syndrome MONDO:0015488 Orphanet:1467 Orphanet:156140 obsolete predominantly large-vessel vasculitis +MONDO:0015453 Cogan syndrome MONDO:0020017 Orphanet:1467 Orphanet:98036 obsolete rare otorhinolaryngologic disease +MONDO:0015454 multiple carboxylase deficiency MONDO:0019252 Orphanet:148 Orphanet:79217 obsolete other metabolic disease with skin involvement +MONDO:0015455 gonococcal conjunctivitis MONDO:0034931 Orphanet:1482 Orphanet:519280 obsolete rare conjunctivitis +MONDO:0015458 intellectual disability-hypoplastic corpus callosum-preauricular tag syndrome MONDO:0016055 Orphanet:1495 Orphanet:199639 obsolete syndrome with corpus callosum agenesis /dysgenesis as a major feature +MONDO:0015458 intellectual disability-hypoplastic corpus callosum-preauricular tag syndrome MONDO:0017122 Orphanet:1495 Orphanet:269573 obsolete genetic syndrome with corpus callosum agenesis/dysgenesis as a major feature +MONDO:0015458 intellectual disability-hypoplastic corpus callosum-preauricular tag syndrome MONDO:0035863 Orphanet:1495 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0015458 intellectual disability-hypoplastic corpus callosum-preauricular tag syndrome MONDO:8000032 Orphanet:1495 Orphanet:377789 obsolete malformation syndrome +MONDO:0015459 nasopharyngeal carcinoma MONDO:0020034 Orphanet:150 Orphanet:98060 obsolete rare respiratory tract neoplasm +MONDO:0015459 nasopharyngeal carcinoma MONDO:0020035 Orphanet:150 Orphanet:98061 obsolete rare otorhinolaryngologic tumor +MONDO:0015462 thin ribs-tubular bones-dysmorphism syndrome MONDO:0019699 Orphanet:1506 Orphanet:93440 obsolete slender bone dysplasia +MONDO:0015462 thin ribs-tubular bones-dysmorphism syndrome MONDO:8000032 Orphanet:1506 Orphanet:377789 obsolete malformation syndrome +MONDO:0015463 craniodigital syndrome-intellectual disability syndrome MONDO:0035863 Orphanet:1514 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0015463 craniodigital syndrome-intellectual disability syndrome MONDO:8000032 Orphanet:1514 Orphanet:377789 obsolete malformation syndrome +MONDO:0015464 craniofrontonasal dysplasia-Poland anomaly syndrome MONDO:8000032 Orphanet:1521 Orphanet:377789 obsolete malformation syndrome +MONDO:0015465 craniometaphyseal dysplasia MONDO:0020018 Orphanet:1522 Orphanet:98038 obsolete cranial malformation +MONDO:0015465 craniometaphyseal dysplasia MONDO:0026182 Orphanet:1522 Orphanet:183542 obsolete genetic cranial malformation +MONDO:0015465 craniometaphyseal dysplasia MONDO:0800084 Orphanet:1522 Orphanet:93444 obsolete primary bone dysplasia with increased bone density +MONDO:0015465 craniometaphyseal dysplasia MONDO:8000032 Orphanet:1522 Orphanet:377789 obsolete malformation syndrome +MONDO:0015466 cranio-osteoarthropathy MONDO:8000032 Orphanet:1525 Orphanet:377789 obsolete malformation syndrome +MONDO:0015467 craniosynostosis, Philadelphia type MONDO:0017434 Orphanet:1527 Orphanet:294959 obsolete syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy +MONDO:0015467 craniosynostosis, Philadelphia type MONDO:8000032 Orphanet:1527 Orphanet:377789 obsolete malformation syndrome +MONDO:0015469 craniosynostosis MONDO:0018454 Orphanet:1531 Orphanet:404568 obsolete dysostosis of genetic origin +MONDO:0015469 craniosynostosis MONDO:0020018 Orphanet:1531 Orphanet:98038 obsolete cranial malformation +MONDO:0015469 craniosynostosis MONDO:0026182 Orphanet:1531 Orphanet:183542 obsolete genetic cranial malformation MONDO:0015470 obsolete familial isolated dilated cardiomyopathy MONDO:0000001 Orphanet:154 Orphanet:377788 disease +MONDO:0015470 obsolete familial isolated dilated cardiomyopathy MONDO:0016147 Orphanet:154 Orphanet:207085 qualitative or quantitative defects of dystrophin +MONDO:0015470 obsolete familial isolated dilated cardiomyopathy MONDO:0016333 Orphanet:154 Orphanet:217607 familial dilated cardiomyopathy +MONDO:0015473 cryptorchidism-arachnodactyly-intellectual disability syndrome MONDO:0020253 Orphanet:1548 Orphanet:98683 obsolete syndrome with a symptomatic strabismus +MONDO:0015473 cryptorchidism-arachnodactyly-intellectual disability syndrome MONDO:0035863 Orphanet:1548 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0015473 cryptorchidism-arachnodactyly-intellectual disability syndrome MONDO:8000032 Orphanet:1548 Orphanet:377789 obsolete malformation syndrome +MONDO:0015475 obsolete rare head and neck malformation MONDO:0019755 Orphanet:155832 Orphanet:93890 developmental defect during embryogenesis +MONDO:0015476 cysts and fistulae of the face and oral cavity MONDO:0019936 Orphanet:155835 Orphanet:96333 obsolete rare otorhinolaryngological malformation +MONDO:0015477 pinnae fistula or cyst MONDO:8000030 Orphanet:155838 Orphanet:377791 obsolete morphological anomaly +MONDO:0015478 obsolete paramedian facial cleft MONDO:0015411 Orphanet:155867 Orphanet:141229 facial cleft +MONDO:0015479 submucosal cleft palate MONDO:8000030 Orphanet:155878 Orphanet:377791 obsolete morphological anomaly +MONDO:0015480 coloboma of superior eyelid MONDO:0015415 Orphanet:155884 Orphanet:141253 obsolete oblique facial cleft +MONDO:0015480 coloboma of superior eyelid MONDO:8000030 Orphanet:155884 Orphanet:377791 obsolete morphological anomaly +MONDO:0015481 coloboma of inferior eyelid MONDO:0015415 Orphanet:155889 Orphanet:141253 obsolete oblique facial cleft +MONDO:0015481 coloboma of inferior eyelid MONDO:8000030 Orphanet:155889 Orphanet:377791 obsolete morphological anomaly +MONDO:0015482 obsolete otomandibular dysplasia MONDO:0015961 Orphanet:155896 Orphanet:183583 obsolete hereditary head and neck malformation +MONDO:0015482 obsolete otomandibular dysplasia MONDO:0019038 Orphanet:155896 Orphanet:68329 obsolete rare maxillo-facial surgical disease +MONDO:0015482 obsolete otomandibular dysplasia MONDO:0019936 Orphanet:155896 Orphanet:96333 obsolete rare otorhinolaryngological malformation +MONDO:0015482 obsolete otomandibular dysplasia MONDO:0800085 Orphanet:155896 Orphanet:93453 obsolete dysostosis with predominant craniofacial involvement +MONDO:0015483 mandibulofacial dysostosis MONDO:0015482 Orphanet:155899 Orphanet:155896 obsolete otomandibular dysplasia +MONDO:0015484 cysticercosis MONDO:0015577 Orphanet:1560 Orphanet:163588 obsolete rare parasitic disease +MONDO:0015485 obsolete primary hereditary glaucoma MONDO:0018174 Orphanet:156005 Orphanet:359 hereditary glaucoma +MONDO:0015485 obsolete primary hereditary glaucoma MONDO:0020145 Orphanet:156005 Orphanet:98553 obsolete developmental defect of the eye +MONDO:0015485 obsolete primary hereditary glaucoma MONDO:0026186 Orphanet:156005 Orphanet:183557 obsolete genetic developmental defect of the eye +MONDO:0015487 fatal infantile encephalocardiomyopathy MONDO:0016578 Orphanet:1561 Orphanet:2443 obsolete mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies +MONDO:0015487 fatal infantile encephalocardiomyopathy MONDO:0035862 Orphanet:1561 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome +MONDO:0015488 obsolete predominantly large-vessel vasculitis MONDO:0018882 Orphanet:156140 Orphanet:52759 vasculitis +MONDO:0015489 obsolete predominantly medium-vessel vasculitis MONDO:0018882 Orphanet:156143 Orphanet:52759 vasculitis +MONDO:0015490 obsolete predominantly small-vessel vasculitis MONDO:0018882 Orphanet:156146 Orphanet:52759 vasculitis +MONDO:0015491 immune complex mediated vasculitis MONDO:0015490 Orphanet:156149 Orphanet:156146 obsolete predominantly small-vessel vasculitis +MONDO:0015492 anti-neutrophil cytoplasmic antibody-associated vasculitis MONDO:0015490 Orphanet:156152 Orphanet:156146 obsolete predominantly small-vessel vasculitis +MONDO:0015492 anti-neutrophil cytoplasmic antibody-associated vasculitis MONDO:0017038 Orphanet:156152 Orphanet:264973 obsolete secondary interstitial lung disease in childhood and adulthood associated with a systemic vasculitis +MONDO:0015494 isolated dystonia MONDO:0019049 Orphanet:156159 Orphanet:68363 obsolete rare dystonia +MONDO:0015495 obsolete otomandibular dysplasia associated with monogenic syndromes MONDO:0015482 Orphanet:156202 Orphanet:155896 obsolete otomandibular dysplasia +MONDO:0015496 macroglossia MONDO:0015475 Orphanet:156207 Orphanet:155832 obsolete rare head and neck malformation +MONDO:0015496 macroglossia MONDO:0015961 Orphanet:156207 Orphanet:183583 obsolete hereditary head and neck malformation +MONDO:0015496 macroglossia MONDO:0019038 Orphanet:156207 Orphanet:68329 obsolete rare maxillo-facial surgical disease +MONDO:0015497 obsolete hypoglossia/aglossia MONDO:0015475 Orphanet:156212 Orphanet:155832 obsolete rare head and neck malformation +MONDO:0015497 obsolete hypoglossia/aglossia MONDO:0015961 Orphanet:156212 Orphanet:183583 obsolete hereditary head and neck malformation +MONDO:0015497 obsolete hypoglossia/aglossia MONDO:0019038 Orphanet:156212 Orphanet:68329 obsolete rare maxillo-facial surgical disease +MONDO:0015498 oromandibular-limb anomalies syndrome MONDO:0015497 Orphanet:156215 Orphanet:156212 obsolete hypoglossia/aglossia +MONDO:0015499 obsolete paralytic facial malformation MONDO:0015475 Orphanet:156224 Orphanet:155832 obsolete rare head and neck malformation +MONDO:0015499 obsolete paralytic facial malformation MONDO:0015961 Orphanet:156224 Orphanet:183583 obsolete hereditary head and neck malformation +MONDO:0015499 obsolete paralytic facial malformation MONDO:0019038 Orphanet:156224 Orphanet:68329 obsolete rare maxillo-facial surgical disease +MONDO:0015500 facial arteriovenous malformation MONDO:0016234 Orphanet:156230 Orphanet:211266 obsolete rare arteriovenous malformation +MONDO:0015501 obsolete syndrome or malformation associated with head and neck malformations MONDO:0015475 Orphanet:156237 Orphanet:155832 obsolete rare head and neck malformation +MONDO:0015501 obsolete syndrome or malformation associated with head and neck malformations MONDO:0015961 Orphanet:156237 Orphanet:183583 obsolete hereditary head and neck malformation +MONDO:0015501 obsolete syndrome or malformation associated with head and neck malformations MONDO:0019038 Orphanet:156237 Orphanet:68329 obsolete rare maxillo-facial surgical disease +MONDO:0015501 obsolete syndrome or malformation associated with head and neck malformations MONDO:0020017 Orphanet:156237 Orphanet:98036 obsolete rare otorhinolaryngologic disease +MONDO:0015502 obsolete pinnae and external auditory canal anomaly MONDO:0018562 Orphanet:156243 Orphanet:435603 obsolete hereditary otorhinolaryngological malformation +MONDO:0015502 obsolete pinnae and external auditory canal anomaly MONDO:0019936 Orphanet:156243 Orphanet:96333 obsolete rare otorhinolaryngological malformation +MONDO:0015503 obsolete nose and cavum anomaly MONDO:0019936 Orphanet:156246 Orphanet:96333 obsolete rare otorhinolaryngological malformation +MONDO:0015504 obsolete larynx anomaly MONDO:0019936 Orphanet:156249 Orphanet:96333 obsolete rare otorhinolaryngological malformation +MONDO:0015505 obsolete tracheal anomaly MONDO:0019936 Orphanet:156252 Orphanet:96333 obsolete rare otorhinolaryngological malformation +MONDO:0015506 obsolete rare syndrome with cardiac malformations MONDO:0020003 Orphanet:156532 Orphanet:97965 obsolete rare surgical cardiac disease +MONDO:0015506 obsolete rare syndrome with cardiac malformations MONDO:0020029 Orphanet:156532 Orphanet:98054 obsolete rare genetic cardiac disease +MONDO:0015507 obsolete rare genetic hepatic disease MONDO:0021198 Orphanet:156601 Orphanet:98053 obsolete rare genetic disease +MONDO:0015508 obsolete hereditary parenchymatous liver disease MONDO:0015507 Orphanet:156604 Orphanet:156601 obsolete rare genetic hepatic disease +MONDO:0015509 obsolete hereditary biliary tract disease MONDO:0015507 Orphanet:156607 Orphanet:156601 obsolete rare genetic hepatic disease +MONDO:0015510 obsolete rare genetic respiratory disease MONDO:0021198 Orphanet:156610 Orphanet:98053 obsolete rare genetic disease +MONDO:0015511 obsolete rare genetic urogenital disease MONDO:0021198 Orphanet:156619 Orphanet:98053 obsolete rare genetic disease +MONDO:0015512 obsolete genetic hypertension MONDO:0019748 Orphanet:156629 Orphanet:93618 obsolete rare cause of hypertension +MONDO:0015512 obsolete genetic hypertension MONDO:0020030 Orphanet:156629 Orphanet:98056 obsolete rare genetic renal disease +MONDO:0015513 obsolete rare genetic endocrine disease MONDO:0021198 Orphanet:156638 Orphanet:98053 obsolete rare genetic disease +MONDO:0015514 hereditary endocrine growth disease MONDO:0015513 Orphanet:156643 Orphanet:156638 obsolete rare genetic endocrine disease +MONDO:0015515 carnitine palmitoyltransferase II deficiency MONDO:0016117 Orphanet:157 Orphanet:206953 obsolete muscular lipidosis +MONDO:0015516 symbrachydactyly of hands and feet MONDO:0800093 Orphanet:1570 Orphanet:498451 obsolete dysostosis with brachydactyly without extraskeletal manifestations +MONDO:0015516 symbrachydactyly of hands and feet MONDO:8000032 Orphanet:1570 Orphanet:377789 obsolete malformation syndrome +MONDO:0015517 common variable immunodeficiency MONDO:0015132 Orphanet:1572 Orphanet:101977 obsolete immunodeficiency predominantly affecting antibody production +MONDO:0015518 infantile bilateral striatal necrosis MONDO:0015918 Orphanet:1576 Orphanet:182070 obsolete rare neurodegenerative disease +MONDO:0015518 infantile bilateral striatal necrosis MONDO:0017641 Orphanet:1576 Orphanet:306695 obsolete miscellaneous movement disorder due to neurodegenerative disease +MONDO:0015518 infantile bilateral striatal necrosis MONDO:0017662 Orphanet:1576 Orphanet:307058 obsolete miscellaneous movement disorder due to genetic neurodegenerative disease +MONDO:0015518 infantile bilateral striatal necrosis MONDO:0035862 Orphanet:1576 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome +MONDO:0015519 congenital or early infantile CACH syndrome MONDO:8000031 Orphanet:157713 Orphanet:557494 obsolete subtype of a disorder +MONDO:0015520 late infantile CACH syndrome MONDO:8000031 Orphanet:157716 Orphanet:557494 obsolete subtype of a disorder +MONDO:0015521 juvenile or adult CACH syndrome MONDO:8000031 Orphanet:157719 Orphanet:557494 obsolete subtype of a disorder +MONDO:0015523 epithelioid hemangioendothelioma MONDO:0016228 Orphanet:157791 Orphanet:211237 obsolete rare vascular tumor +MONDO:0015523 epithelioid hemangioendothelioma MONDO:0018729 Orphanet:157791 Orphanet:459543 obsolete genetic vascular tumor +MONDO:0015524 hyperplastic polyposis syndrome MONDO:0018188 Orphanet:157798 Orphanet:363314 obsolete hereditary intestinal polyposis +MONDO:0015525 congenital pseudoarthrosis of the limbs MONDO:0015227 Orphanet:157808 Orphanet:109011 obsolete non-syndromic limb malformation +MONDO:0015525 congenital pseudoarthrosis of the limbs MONDO:0018235 Orphanet:157808 Orphanet:364568 obsolete dysostosis with limb anomaly as a major feature +MONDO:0015525 congenital pseudoarthrosis of the limbs MONDO:0018455 Orphanet:157808 Orphanet:404571 obsolete dysostosis of genetic origin with limb anomaly as a major feature +MONDO:0015525 congenital pseudoarthrosis of the limbs MONDO:8000030 Orphanet:157808 Orphanet:377791 obsolete morphological anomaly +MONDO:0015528 congenital epulis MONDO:0019099 Orphanet:157826 Orphanet:71209 obsolete rare soft tissue tumor +MONDO:0015530 trigeminal autonomic cephalalgia MONDO:0020011 Orphanet:157843 Orphanet:98022 obsolete rare headache disorder +MONDO:0015531 non-Langerhans cell histiocytosis MONDO:0017368 Orphanet:157987 Orphanet:290836 obsolete systemic disease with skin involvement +MONDO:0015540 hemophagocytic syndrome MONDO:0020008 Orphanet:158032 Orphanet:98004 obsolete rare immune disease +MONDO:0015541 hereditary hemophagocytic lymphohistiocytosis MONDO:0015144 Orphanet:540 Orphanet:102005 obsolete brain inflammatory disease +MONDO:0015541 hereditary hemophagocytic lymphohistiocytosis MONDO:0015710 Orphanet:158038 Orphanet:169361 obsolete immune dysregulation disease with immunodeficiency +MONDO:0015544 acquired hemophagocytic lymphohistiocytosis associated with malignant disease MONDO:0032014 Orphanet:158057 Orphanet:377793 obsolete particular clinical situation in a disease or syndrome +MONDO:0015545 macrophage activation syndrome MONDO:0032013 Orphanet:158061 Orphanet:377792 obsolete clinical syndrome +MONDO:0015546 non-distal monosomy 10q MONDO:0020253 Orphanet:1581 Orphanet:98683 obsolete syndrome with a symptomatic strabismus +MONDO:0015546 non-distal monosomy 10q MONDO:8000032 Orphanet:1581 Orphanet:377789 obsolete malformation syndrome +MONDO:0015547 hereditary dementia MONDO:0019117 Orphanet:158124 Orphanet:71859 obsolete genetic nervous system disorder +MONDO:0015548 Huntington disease-like syndrome MONDO:0019515 Orphanet:158266 Orphanet:89043 obsolete rare dementia +MONDO:0015549 obsolete rare genetic hematologic disease MONDO:0021198 Orphanet:158300 Orphanet:98053 obsolete rare genetic disease +MONDO:0015552 acral dystrophic epidermolysis bullosa MONDO:8000031 Orphanet:158673 Orphanet:557494 obsolete subtype of a disorder +MONDO:0015553 dystrophic epidermolysis bullosa, nails only MONDO:8000031 Orphanet:158676 Orphanet:557494 obsolete subtype of a disorder +MONDO:0015554 typical urticaria pigmentosa MONDO:8000031 Orphanet:158766 Orphanet:557494 obsolete subtype of a disorder +MONDO:0015555 plaque-form urticaria pigmentosa MONDO:8000031 Orphanet:158769 Orphanet:557494 obsolete subtype of a disorder +MONDO:0015556 nodular urticaria pigmentosa MONDO:8000031 Orphanet:158772 Orphanet:557494 obsolete subtype of a disorder +MONDO:0015562 distal monosomy 17q MONDO:8000032 Orphanet:1597 Orphanet:377789 obsolete malformation syndrome +MONDO:0015565 cap polyposis MONDO:0015187 Orphanet:160148 Orphanet:104012 obsolete rare inflammatory bowel disease +MONDO:0015566 2q24 microdeletion syndrome MONDO:0020226 Orphanet:1617 Orphanet:98642 obsolete chromosomal anomaly with cataract +MONDO:0015566 2q24 microdeletion syndrome MONDO:8000032 Orphanet:1617 Orphanet:377789 obsolete malformation syndrome +MONDO:0015567 cataract-glaucoma syndrome MONDO:0020225 Orphanet:162 Orphanet:98641 obsolete syndromic cataract +MONDO:0015567 cataract-glaucoma syndrome MONDO:8000032 Orphanet:162 Orphanet:377789 obsolete malformation syndrome +MONDO:0015568 isolated congenital nasal pyriform aperture stenosis MONDO:0015503 Orphanet:162516 Orphanet:156246 obsolete nose and cavum anomaly +MONDO:0015568 isolated congenital nasal pyriform aperture stenosis MONDO:8000032 Orphanet:162516 Orphanet:377789 obsolete malformation syndrome +MONDO:0015570 isolated congenital auditory ossicle malformation MONDO:8000030 Orphanet:162526 Orphanet:377791 obsolete morphological anomaly +MONDO:0015571 deletion 5q35 MONDO:8000032 Orphanet:1627 Orphanet:377789 obsolete malformation syndrome +MONDO:0015572 obsolete cerebral malformation due to abnormal neuronal migration MONDO:0015655 Orphanet:163209 Orphanet:166478 obsolete cerebral malformation with epilepsy +MONDO:0015572 obsolete cerebral malformation due to abnormal neuronal migration MONDO:0016054 Orphanet:163209 Orphanet:199633 obsolete cerebral malformation +MONDO:0015572 obsolete cerebral malformation due to abnormal neuronal migration MONDO:0957008 Orphanet:163209 Orphanet:269553 hereditary cerebral malformation +MONDO:0015573 subacute cutaneous lupus erythematosus MONDO:0018887 Orphanet:163525 Orphanet:535 obsolete rare cutaneous lupus erythematosus +MONDO:0015574 chronic cutaneous lupus erythematosus MONDO:0018887 Orphanet:163531 Orphanet:535 obsolete rare cutaneous lupus erythematosus +MONDO:0015575 obsolete rare bacterial infectious disease MONDO:0019062 Orphanet:163582 Orphanet:68416 obsolete rare infectious disease +MONDO:0015576 obsolete rare viral disease MONDO:0019062 Orphanet:163585 Orphanet:68416 obsolete rare infectious disease +MONDO:0015577 obsolete rare parasitic disease MONDO:0019062 Orphanet:163588 Orphanet:68416 obsolete rare infectious disease +MONDO:0015578 obsolete rare mycosis MONDO:0019062 Orphanet:163591 Orphanet:68416 obsolete rare infectious disease +MONDO:0015579 Hb Bart's hydrops fetalis MONDO:8000031 Orphanet:163596 Orphanet:557494 obsolete subtype of a disorder +MONDO:0015580 distal monosomy 7q36 MONDO:8000032 Orphanet:1636 Orphanet:377789 obsolete malformation syndrome +MONDO:0015581 obsolete bile acid synthesis defect with cholestasis and malabsorption MONDO:0017290 Orphanet:163631 Orphanet:284385 familial intrahepatic cholestasis +MONDO:0015581 obsolete bile acid synthesis defect with cholestasis and malabsorption MONDO:0019218 Orphanet:163631 Orphanet:79168 inborn disorder of bile acid synthesis +MONDO:0015582 obsolete rare disorder related with pregnancy, childbirth and puerperium MONDO:0019937 Orphanet:163637 Orphanet:96344 obsolete rare gynecologic or obstetric disease +MONDO:0015584 febrile infection-related epilepsy syndrome MONDO:0018200 Orphanet:163703 Orphanet:363567 obsolete acute encephalopathy with inflammation-mediated status epilepticus MONDO:0015586 obsolete benign familial mesial temporal lobe epilepsy MONDO:0000001 Orphanet:163717 Orphanet:377788 disease +MONDO:0015586 obsolete benign familial mesial temporal lobe epilepsy MONDO:0017704 Orphanet:163717 Orphanet:309 familial partial epilepsy +MONDO:0015587 rolandic epilepsy-speech dyspraxia syndrome MONDO:0035862 Orphanet:163721 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome +MONDO:0015595 posttransplant acute limbic encephalitis MONDO:0032014 Orphanet:163921 Orphanet:377793 obsolete particular clinical situation in a disease or syndrome +MONDO:0015595 posttransplant acute limbic encephalitis MONDO:0035426 Orphanet:163921 Orphanet:565779 obsolete rare disorder potentially indicated for transplant or complication after transplantation +MONDO:0015597 pustulosis palmaris et plantaris MONDO:0019274 Orphanet:163927 Orphanet:79359 obsolete other epidermal disorder +MONDO:0015597 pustulosis palmaris et plantaris MONDO:0019275 Orphanet:163927 Orphanet:79360 obsolete other genetic epidermal disease +MONDO:0015599 atopic keratoconjunctivitis MONDO:0034931 Orphanet:163934 Orphanet:519280 obsolete rare conjunctivitis +MONDO:0015600 X-linked intellectual disability, Cilliers type MONDO:0015906 Orphanet:163971 Orphanet:181441 obsolete rare disorder with hypergonadotropic hypogonadism +MONDO:0015600 X-linked intellectual disability, Cilliers type MONDO:0035863 Orphanet:163971 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0015601 X-linked intellectual disability, van Esch type MONDO:0015906 Orphanet:163976 Orphanet:181441 obsolete rare disorder with hypergonadotropic hypogonadism +MONDO:0015601 X-linked intellectual disability, van Esch type MONDO:0035863 Orphanet:163976 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0015601 X-linked intellectual disability, van Esch type MONDO:8000032 Orphanet:163976 Orphanet:377789 obsolete malformation syndrome +MONDO:0015603 obsolete rare odontal or periodontal disorder MONDO:0020013 Orphanet:164001 Orphanet:98026 obsolete rare odontologic disease +MONDO:0015604 middle ear anomaly MONDO:0019936 Orphanet:164004 Orphanet:96333 obsolete rare otorhinolaryngological malformation +MONDO:0015605 distal monosomy 9p MONDO:0016891 Orphanet:1642 Orphanet:261929 obsolete partial deletion of the short arm of chromosome 9 +MONDO:0015605 distal monosomy 9p MONDO:0017978 Orphanet:1642 Orphanet:325638 obsolete syndrome with disorder of sex development of gynecological interest +MONDO:0015605 distal monosomy 9p MONDO:0020042 Orphanet:1642 Orphanet:98087 obsolete syndrome with 46,XY disorder of sex development +MONDO:0015605 distal monosomy 9p MONDO:8000032 Orphanet:1642 Orphanet:377789 obsolete malformation syndrome +MONDO:0015606 Xp22.3 microdeletion syndrome MONDO:8000032 Orphanet:1643 Orphanet:377789 obsolete malformation syndrome +MONDO:0015607 partial chromosome Y deletion MONDO:0018391 Orphanet:1646 Orphanet:399775 obsolete male infertility with spermatogenesis disorder +MONDO:0015607 partial chromosome Y deletion MONDO:0020061 Orphanet:1646 Orphanet:98158 obsolete chromosome Y structural anomaly +MONDO:0015607 partial chromosome Y deletion MONDO:8000032 Orphanet:1646 Orphanet:377789 obsolete malformation syndrome +MONDO:0015609 advanced sleep phase syndrome MONDO:0019045 Orphanet:164736 Orphanet:68354 obsolete rare sleep disorder +MONDO:0015609 advanced sleep phase syndrome MONDO:0019117 Orphanet:164736 Orphanet:71859 obsolete genetic nervous system disorder +MONDO:0015611 neutral lipid storage disease MONDO:0016117 Orphanet:165 Orphanet:206953 obsolete muscular lipidosis +MONDO:0015611 neutral lipid storage disease MONDO:0018120 Orphanet:165 Orphanet:352312 obsolete disorder of phospholipids, sphingolipids and fatty acids biosynthesis with skeletal muscle predominant involvement +MONDO:0015613 dentin dysplasia MONDO:0015668 Orphanet:1653 Orphanet:167759 obsolete hereditary dentin defect +MONDO:0015615 obsolete rare genetic gastroenterological disease MONDO:0021198 Orphanet:165652 Orphanet:98053 obsolete rare genetic disease +MONDO:0015616 obsolete rare genetic intestinal disease MONDO:0015615 Orphanet:165655 Orphanet:165652 obsolete rare genetic gastroenterological disease +MONDO:0015617 obsolete hereditary gastro-esophageal disease MONDO:0015615 Orphanet:165658 Orphanet:165652 obsolete rare genetic gastroenterological disease +MONDO:0015618 obsolete genetic pancreatic disease MONDO:0015615 Orphanet:165661 Orphanet:165652 obsolete rare genetic gastroenterological disease +MONDO:0015619 obsolete non-syndromic urogenital tract malformation MONDO:0019356 Orphanet:165704 Orphanet:83001 urogenital tract malformation +MONDO:0015620 obsolete syndromic urogenital tract malformation MONDO:0019356 Orphanet:165707 Orphanet:83001 urogenital tract malformation +MONDO:0015620 obsolete syndromic urogenital tract malformation MONDO:0024987 Orphanet:165707 Orphanet:156622 obsolete genetic urogenital tract malformation +MONDO:0015621 obsolete rare abdominal surgical disease MONDO:8000033 Orphanet:165711 Orphanet:557492 obsolete group of disorders +MONDO:0015632 FASTKD2-related infantile mitochondrial encephalomyopathy MONDO:0016799 Orphanet:166105 Orphanet:254822 obsolete mitochondrial oxidative phosphorylation disorder with no known mechanism +MONDO:0015632 FASTKD2-related infantile mitochondrial encephalomyopathy MONDO:0019058 Orphanet:166105 Orphanet:68385 obsolete neurometabolic disease +MONDO:0015635 porokeratotic eccrine ostial and dermal duct nevus MONDO:0017414 Orphanet:166286 Orphanet:294057 obsolete rare nevus +MONDO:0015650 epilepsy syndrome MONDO:0015139 Orphanet:166463 Orphanet:101998 obsolete rare epilepsy +MONDO:0015650 epilepsy syndrome MONDO:0015955 Orphanet:166463 Orphanet:183512 obsolete rare genetic epilepsy +MONDO:0015651 obsolete neurocutaneous syndrome with epilepsy MONDO:0015139 Orphanet:166466 Orphanet:101998 obsolete rare epilepsy +MONDO:0015651 obsolete neurocutaneous syndrome with epilepsy MONDO:0015955 Orphanet:166466 Orphanet:183512 obsolete rare genetic epilepsy +MONDO:0015652 obsolete chromosomal anomaly with epilepsy as a major feature MONDO:0015139 Orphanet:166469 Orphanet:101998 obsolete rare epilepsy +MONDO:0015652 obsolete chromosomal anomaly with epilepsy as a major feature MONDO:0015955 Orphanet:166469 Orphanet:183512 obsolete rare genetic epilepsy +MONDO:0015653 monogenic epilepsy MONDO:0015139 Orphanet:166472 Orphanet:101998 obsolete rare epilepsy +MONDO:0015653 monogenic epilepsy MONDO:0015955 Orphanet:166472 Orphanet:183512 obsolete rare genetic epilepsy +MONDO:0015654 obsolete idiopathic or cryptogenic familial epilepsy syndrome with identified loci/genes MONDO:0015139 Orphanet:166475 Orphanet:101998 obsolete rare epilepsy +MONDO:0015654 obsolete idiopathic or cryptogenic familial epilepsy syndrome with identified loci/genes MONDO:0015955 Orphanet:166475 Orphanet:183512 obsolete rare genetic epilepsy +MONDO:0015655 obsolete cerebral malformation with epilepsy MONDO:0015139 Orphanet:166478 Orphanet:101998 obsolete rare epilepsy +MONDO:0015655 obsolete cerebral malformation with epilepsy MONDO:0015955 Orphanet:166478 Orphanet:183512 obsolete rare genetic epilepsy +MONDO:0015656 obsolete metabolic disease with epilepsy MONDO:0015139 Orphanet:166481 Orphanet:101998 obsolete rare epilepsy +MONDO:0015656 obsolete metabolic disease with epilepsy MONDO:0015955 Orphanet:166481 Orphanet:183512 obsolete rare genetic epilepsy +MONDO:0015657 obsolete inflammatory and autoimmune disease with epilepsy MONDO:0015139 Orphanet:166484 Orphanet:101998 obsolete rare epilepsy +MONDO:0015658 obsolete cerebral diseases of vascular origin with epilepsy MONDO:0015139 Orphanet:166487 Orphanet:101998 obsolete rare epilepsy +MONDO:0015658 obsolete cerebral diseases of vascular origin with epilepsy MONDO:0015955 Orphanet:166487 Orphanet:183512 obsolete rare genetic epilepsy +MONDO:0015659 obsolete infectious disease with epilepsy MONDO:0015139 Orphanet:166490 Orphanet:101998 obsolete rare epilepsy +MONDO:0015660 sporadic fetal brain disruption sequence MONDO:0016054 Orphanet:1665 Orphanet:199633 obsolete cerebral malformation +MONDO:0015660 sporadic fetal brain disruption sequence MONDO:8000032 Orphanet:1665 Orphanet:377789 obsolete malformation syndrome +MONDO:0015661 dextrocardia MONDO:8000030 Orphanet:1666 Orphanet:377791 obsolete morphological anomaly +MONDO:0015662 obsolete hemorrhagic disorder due to an acquired coagulation factor defect MONDO:0016628 Orphanet:166775 Orphanet:248315 obsolete hemorrhagic disorder due to a coagulation factors defect +MONDO:0015663 diencephalic syndrome MONDO:0015889 Orphanet:1672 Orphanet:181384 obsolete rare hypothalamic or pituitary disease +MONDO:0015664 idiopathic pulmonary artery dilatation MONDO:0020287 Orphanet:1676 Orphanet:98719 obsolete pulmonary artery or pulmonary branch anomaly +MONDO:0015666 familial idiopathic dilatation of the right atrium MONDO:0018797 Orphanet:1677 Orphanet:477805 obsolete genetic cardiac malformation +MONDO:0015666 familial idiopathic dilatation of the right atrium MONDO:0020294 Orphanet:1677 Orphanet:98727 obsolete atrial defect and interatrial communication +MONDO:0015666 familial idiopathic dilatation of the right atrium MONDO:8000030 Orphanet:1677 Orphanet:377791 obsolete morphological anomaly +MONDO:0015668 obsolete hereditary dentin defect MONDO:0015603 Orphanet:167759 Orphanet:164001 obsolete rare odontal or periodontal disorder +MONDO:0015668 obsolete hereditary dentin defect MONDO:0018488 Orphanet:167759 Orphanet:420755 obsolete rare genetic odontal or periodontal disorder +MONDO:0015669 obsolete rare disease with dentinogenesis imperfecta MONDO:0019183 Orphanet:167762 Orphanet:77830 obsolete inherited odontologic disease +MONDO:0015669 obsolete rare disease with dentinogenesis imperfecta MONDO:0020014 Orphanet:167762 Orphanet:98027 obsolete rare disease with odontological manifestation +MONDO:0015672 diprosopus MONDO:0018731 Orphanet:1681 Orphanet:459787 obsolete lethal multiple congenital anomalies/dysmorphic syndrome +MONDO:0015672 diprosopus MONDO:8000030 Orphanet:1681 Orphanet:377791 obsolete morphological anomaly +MONDO:0015673 obsolete rare cardiac tumor MONDO:0019996 Orphanet:168194 Orphanet:97929 obsolete rare cardiac disease +MONDO:0015673 obsolete rare cardiac tumor MONDO:0020031 Orphanet:168194 Orphanet:98057 obsolete rare tumor +MONDO:0015674 late infantile neuronal ceroid lipofuscinosis MONDO:0034953 Orphanet:168491 Orphanet:519325 obsolete syndromic inherited retinal disorder +MONDO:0015675 distomatosis MONDO:0015577 Orphanet:1685 Orphanet:163588 obsolete rare parasitic disease +MONDO:0015677 cardiac diverticulum MONDO:8000030 Orphanet:1686 Orphanet:377791 obsolete morphological anomaly +MONDO:0015678 dysplasia of head of femur, Meyer type MONDO:0019692 Orphanet:168621 Orphanet:93429 obsolete multiple epiphyseal dysplasia and pseudoachondroplasia +MONDO:0015679 obsolete autosomal thrombocytopenia with normal platelets MONDO:0017057 Orphanet:168629 Orphanet:268322 obsolete hereditary thrombocytopenia with normal platelets +MONDO:0015679 obsolete autosomal thrombocytopenia with normal platelets MONDO:8000031 Orphanet:168629 Orphanet:557494 obsolete subtype of a disorder +MONDO:0015680 obsolete rare pervasive developmental disorder MONDO:0019117 Orphanet:168778 Orphanet:71859 obsolete genetic nervous system disorder +MONDO:0015680 obsolete rare pervasive developmental disorder MONDO:0020016 Orphanet:168778 Orphanet:98033 obsolete rare neurologic disease with psychiatric involvement +MONDO:0015681 childhood disintegrative disorder MONDO:0015680 Orphanet:168782 Orphanet:168778 obsolete rare pervasive developmental disorder +MONDO:0015682 obsolete primary peritoneal tumor MONDO:0015621 Orphanet:168803 Orphanet:165711 obsolete rare abdominal surgical disease +MONDO:0015682 obsolete primary peritoneal tumor MONDO:0020031 Orphanet:168803 Orphanet:98057 obsolete rare tumor +MONDO:0015683 obsolete primary malignant peritoneal tumor MONDO:0015682 Orphanet:168807 Orphanet:168803 obsolete primary peritoneal tumor +MONDO:0015686 primary peritoneal carcinoma MONDO:0015683 Orphanet:168829 Orphanet:168807 obsolete primary malignant peritoneal tumor +MONDO:0015694 malignant melanoma of the mucosa MONDO:0019300 Orphanet:168999 Orphanet:79386 obsolete rare skin tumor or hamartoma +MONDO:0015695 combined immunodeficiency due to CRAC channel dysfunction MONDO:0018035 Orphanet:169090 Orphanet:331217 obsolete syndrome with combined immunodeficiency +MONDO:0015697 immunoglobulin heavy chain deficiency MONDO:0018038 Orphanet:169110 Orphanet:331232 obsolete immunodeficiency with isotype or light chain deficiencies with normal number of B-cells +MONDO:0015698 transient hypogammaglobulinemia of infancy MONDO:0015132 Orphanet:169139 Orphanet:101977 obsolete immunodeficiency predominantly affecting antibody production +MONDO:0015706 mosaic trisomy 1 MONDO:0020051 Orphanet:1692 Orphanet:98131 obsolete total autosomal trisomy +MONDO:0015706 mosaic trisomy 1 MONDO:8000032 Orphanet:1692 Orphanet:377789 obsolete malformation syndrome +MONDO:0015707 obsolete DNA repair defect other than combined T-cell and B-cell immunodeficiencies MONDO:0018035 Orphanet:169346 Orphanet:331217 obsolete syndrome with combined immunodeficiency +MONDO:0015708 immuno-osseous dysplasia MONDO:0018035 Orphanet:169349 Orphanet:331217 obsolete syndrome with combined immunodeficiency +MONDO:0015709 obsolete immunodeficiency syndrome with autoimmunity MONDO:0015710 Orphanet:169355 Orphanet:169361 obsolete immune dysregulation disease with immunodeficiency +MONDO:0015710 obsolete immune dysregulation disease with immunodeficiency MONDO:0015823 Orphanet:169361 Orphanet:179006 obsolete primary immunodeficiency due to a defect in adaptive immunity +MONDO:0015711 obsolete specific antibody deficiency with normal immunoglobulin concentrations and normal numbers of B cells MONDO:0015132 Orphanet:169443 Orphanet:101977 obsolete immunodeficiency predominantly affecting antibody production +MONDO:0015712 non-distal trisomy 10q MONDO:0020226 Orphanet:1695 Orphanet:98642 obsolete chromosomal anomaly with cataract +MONDO:0015712 non-distal trisomy 10q MONDO:8000032 Orphanet:1695 Orphanet:377789 obsolete malformation syndrome +MONDO:0015715 severe hemophilia B MONDO:8000031 Orphanet:169793 Orphanet:557494 obsolete subtype of a disorder +MONDO:0015716 moderately severe hemophilia B MONDO:8000031 Orphanet:169796 Orphanet:557494 obsolete subtype of a disorder +MONDO:0015717 mild hemophilia B MONDO:8000031 Orphanet:169799 Orphanet:557494 obsolete subtype of a disorder +MONDO:0015718 mosaic trisomy 12 MONDO:0020051 Orphanet:1698 Orphanet:98131 obsolete total autosomal trisomy +MONDO:0015718 mosaic trisomy 12 MONDO:8000032 Orphanet:1698 Orphanet:377789 obsolete malformation syndrome +MONDO:0015719 severe hemophilia A MONDO:8000031 Orphanet:169802 Orphanet:557494 obsolete subtype of a disorder +MONDO:0015720 moderately severe hemophilia A MONDO:8000031 Orphanet:169805 Orphanet:557494 obsolete subtype of a disorder +MONDO:0015721 mild hemophilia A MONDO:8000031 Orphanet:169808 Orphanet:557494 obsolete subtype of a disorder +MONDO:0015722 congenital vitamin K-dependent coagulation factors deficiency MONDO:0017760 Orphanet:98434 Orphanet:309833 obsolete disorder of other vitamins and cofactors metabolism and transport +MONDO:0015722 congenital vitamin K-dependent coagulation factors deficiency MONDO:0019039 Orphanet:169826 Orphanet:68334 obsolete rare hemorrhagic disorder due to a constitutional coagulation factors defect +MONDO:0015723 trisomy 12p MONDO:8000032 Orphanet:1699 Orphanet:377789 obsolete malformation syndrome +MONDO:0015724 non-distal trisomy 13q MONDO:8000032 Orphanet:1702 Orphanet:377789 obsolete malformation syndrome +MONDO:0015725 mosaic trisomy 14 MONDO:0020051 Orphanet:1703 Orphanet:98131 obsolete total autosomal trisomy +MONDO:0015725 mosaic trisomy 14 MONDO:8000032 Orphanet:1703 Orphanet:377789 obsolete malformation syndrome +MONDO:0015726 distal trisomy 14q MONDO:0020165 Orphanet:1705 Orphanet:98574 obsolete syndromic epicanthus +MONDO:0015726 distal trisomy 14q MONDO:8000032 Orphanet:1705 Orphanet:377789 obsolete malformation syndrome +MONDO:0015727 mosaic trisomy 15 MONDO:0020051 Orphanet:1706 Orphanet:98131 obsolete total autosomal trisomy +MONDO:0015727 mosaic trisomy 15 MONDO:8000032 Orphanet:1706 Orphanet:377789 obsolete malformation syndrome +MONDO:0015728 distal trisomy 15q MONDO:8000031 Orphanet:1707 Orphanet:557494 obsolete subtype of a disorder +MONDO:0015729 mosaic trisomy 16 MONDO:0020051 Orphanet:1708 Orphanet:98131 obsolete total autosomal trisomy +MONDO:0015729 mosaic trisomy 16 MONDO:8000032 Orphanet:1708 Orphanet:377789 obsolete malformation syndrome +MONDO:0015730 mosaic trisomy 17 MONDO:0020051 Orphanet:1711 Orphanet:98131 obsolete total autosomal trisomy +MONDO:0015730 mosaic trisomy 17 MONDO:8000032 Orphanet:1711 Orphanet:377789 obsolete malformation syndrome +MONDO:0015734 rectal duplication MONDO:0019999 Orphanet:171220 Orphanet:97945 obsolete intestinal malformation +MONDO:0015734 rectal duplication MONDO:8000030 Orphanet:171220 Orphanet:377791 obsolete morphological anomaly +MONDO:0015735 severe congenital nemaline myopathy MONDO:0018701 Orphanet:171430 Orphanet:457074 obsolete congenital nemaline myopathy +MONDO:0015736 intermediate nemaline myopathy MONDO:0018701 Orphanet:171433 Orphanet:457074 obsolete congenital nemaline myopathy +MONDO:0015737 typical nemaline myopathy MONDO:0018701 Orphanet:171436 Orphanet:457074 obsolete congenital nemaline myopathy +MONDO:0015740 trisomy 18p MONDO:8000032 Orphanet:1715 Orphanet:377789 obsolete malformation syndrome +MONDO:0015741 distal trisomy 18q MONDO:8000032 Orphanet:1716 Orphanet:377789 obsolete malformation syndrome +MONDO:0015743 idiopathic bilateral vestibulopathy MONDO:0020017 Orphanet:171684 Orphanet:98036 obsolete rare otorhinolaryngologic disease +MONDO:0015744 distal trisomy 19q MONDO:8000032 Orphanet:1717 Orphanet:377789 obsolete malformation syndrome +MONDO:0015745 microcephaly-polymicrogyria-corpus callosum agenesis syndrome MONDO:0016055 Orphanet:171703 Orphanet:199639 obsolete syndrome with corpus callosum agenesis /dysgenesis as a major feature +MONDO:0015745 microcephaly-polymicrogyria-corpus callosum agenesis syndrome MONDO:0017122 Orphanet:171703 Orphanet:269573 obsolete genetic syndrome with corpus callosum agenesis/dysgenesis as a major feature +MONDO:0015745 microcephaly-polymicrogyria-corpus callosum agenesis syndrome MONDO:0035863 Orphanet:171703 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0015745 microcephaly-polymicrogyria-corpus callosum agenesis syndrome MONDO:8000032 Orphanet:171703 Orphanet:377789 obsolete malformation syndrome +MONDO:0015746 male infertility due to globozoospermia MONDO:8000031 Orphanet:171709 Orphanet:557494 obsolete subtype of a disorder +MONDO:0015748 hereditary mucosal leukokeratosis MONDO:0017414 Orphanet:171723 Orphanet:294057 obsolete rare nevus +MONDO:0015751 craniosynostosis-hydrocephalus-Arnold-Chiari malformation type I-radioulnar synostosis syndrome MONDO:0017120 Orphanet:171839 Orphanet:269531 obsolete other syndrome with a central nervous system malformation as major feature +MONDO:0015751 craniosynostosis-hydrocephalus-Arnold-Chiari malformation type I-radioulnar synostosis syndrome MONDO:8000032 Orphanet:171839 Orphanet:377789 obsolete malformation syndrome +MONDO:0015756 myeloid hemopathy MONDO:0019044 Orphanet:171895 Orphanet:68347 obsolete tumor of hematopoietic and lymphoid tissues +MONDO:0015757 lymphoid hemopathy MONDO:0019044 Orphanet:171898 Orphanet:68347 obsolete tumor of hematopoietic and lymphoid tissues +MONDO:0015761 trisomy 10p MONDO:8000032 Orphanet:171929 Orphanet:377789 obsolete malformation syndrome +MONDO:0015763 mosaic trisomy 2 MONDO:0020051 Orphanet:1723 Orphanet:98131 obsolete total autosomal trisomy +MONDO:0015763 mosaic trisomy 2 MONDO:8000032 Orphanet:1723 Orphanet:377789 obsolete malformation syndrome +MONDO:0015764 mosaic trisomy 20 MONDO:0020051 Orphanet:1724 Orphanet:98131 obsolete total autosomal trisomy +MONDO:0015764 mosaic trisomy 20 MONDO:8000032 Orphanet:1724 Orphanet:377789 obsolete malformation syndrome +MONDO:0015765 obsolete congenital myopathy with cores MONDO:0019952 Orphanet:172976 Orphanet:97245 congenital myopathy +MONDO:0015766 cholera MONDO:0015575 Orphanet:173 Orphanet:163582 obsolete rare bacterial infectious disease +MONDO:0015767 trisomy 4p MONDO:8000032 Orphanet:1738 Orphanet:377789 obsolete malformation syndrome +MONDO:0015768 trisomy 5p MONDO:0019717 Orphanet:1742 Orphanet:93461 obsolete chromosomal disease with overgrowth +MONDO:0015768 trisomy 5p MONDO:0020226 Orphanet:1742 Orphanet:98642 obsolete chromosomal anomaly with cataract +MONDO:0015768 trisomy 5p MONDO:8000032 Orphanet:1742 Orphanet:377789 obsolete malformation syndrome +MONDO:0015769 distal trisomy 6p MONDO:8000032 Orphanet:1745 Orphanet:377789 obsolete malformation syndrome +MONDO:0015770 congenital hypogonadotropic hypogonadism MONDO:0015860 Orphanet:174590 Orphanet:180208 obsolete anomaly of puberty or/and menstrual cycle +MONDO:0015770 congenital hypogonadotropic hypogonadism MONDO:0016072 Orphanet:174590 Orphanet:202940 obsolete anomaly of puberty or/and menstrual cycle of genetic origin +MONDO:0015770 congenital hypogonadotropic hypogonadism MONDO:0018386 Orphanet:174590 Orphanet:399572 obsolete rare male infertility due to hypothalamic-pituitary-gonadal axis disorder +MONDO:0015770 congenital hypogonadotropic hypogonadism MONDO:0018405 Orphanet:174590 Orphanet:399983 obsolete rare male infertility due to hypothalamic-pituitary-gonadal axis disorder of genetic origin +MONDO:0015771 mosaic trisomy 7 MONDO:0020051 Orphanet:1747 Orphanet:98131 obsolete total autosomal trisomy +MONDO:0015771 mosaic trisomy 7 MONDO:8000032 Orphanet:1747 Orphanet:377789 obsolete malformation syndrome +MONDO:0015772 trisomy 8q MONDO:8000032 Orphanet:1752 Orphanet:377789 obsolete malformation syndrome +MONDO:0015773 fibular dimelia-diplopodia syndrome MONDO:0017434 Orphanet:1757 Orphanet:294959 obsolete syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy +MONDO:0015773 fibular dimelia-diplopodia syndrome MONDO:8000032 Orphanet:1757 Orphanet:377789 obsolete malformation syndrome +MONDO:0015774 thoraco-abdominal enteric duplication MONDO:0015212 Orphanet:1759 Orphanet:108969 obsolete syndromic intestinal malformation +MONDO:0015774 thoraco-abdominal enteric duplication MONDO:8000032 Orphanet:1759 Orphanet:377789 obsolete malformation syndrome +MONDO:0015776 rhizomelic chondrodysplasia punctata MONDO:0016398 Orphanet:177 Orphanet:225686 obsolete peroxisomal disease with epilepsy +MONDO:0015776 rhizomelic chondrodysplasia punctata MONDO:0019058 Orphanet:177 Orphanet:68385 obsolete neurometabolic disease +MONDO:0015776 rhizomelic chondrodysplasia punctata MONDO:0020232 Orphanet:177 Orphanet:98648 obsolete musculoskeletal disease with cataract +MONDO:0015776 rhizomelic chondrodysplasia punctata MONDO:0035862 Orphanet:177 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome +MONDO:0015777 obsolete adult hypothyroidism MONDO:0015893 Orphanet:177101 Orphanet:181396 obsolete rare hypothyroidism +MONDO:0015778 obsolete syndromic hypothyroidism MONDO:0016408 Orphanet:177107 Orphanet:226292 permanent congenital hypothyroidism +MONDO:0015779 45,X/46,XY mixed gonadal dysgenesis MONDO:0017005 Orphanet:1772 Orphanet:263746 obsolete Y chromosome number anomaly +MONDO:0015779 45,X/46,XY mixed gonadal dysgenesis MONDO:0020038 Orphanet:1772 Orphanet:98074 obsolete gonadal dysgenesis of gynecological interest +MONDO:0015779 45,X/46,XY mixed gonadal dysgenesis MONDO:0020090 Orphanet:1772 Orphanet:98313 obsolete male infertility due to gonadal dysgenesis +MONDO:0015779 45,X/46,XY mixed gonadal dysgenesis MONDO:8000032 Orphanet:1772 Orphanet:377789 obsolete malformation syndrome +MONDO:0015780 dyskeratosis congenita MONDO:0018035 Orphanet:1775 Orphanet:331217 obsolete syndrome with combined immunodeficiency +MONDO:0015780 dyskeratosis congenita MONDO:0020063 Orphanet:1775 Orphanet:98196 obsolete malformation syndrome with hamartosis +MONDO:0015780 dyskeratosis congenita MONDO:0035862 Orphanet:1775 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome +MONDO:0015781 facial dysmorphism-shawl scrotum-joint laxity syndrome MONDO:0035863 Orphanet:1778 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0015781 facial dysmorphism-shawl scrotum-joint laxity syndrome MONDO:8000032 Orphanet:1778 Orphanet:377789 obsolete malformation syndrome +MONDO:0015782 dysmorphism-cleft palate-loose skin syndrome MONDO:0015335 Orphanet:1779 Orphanet:139039 obsolete Mendelian syndromes with cleft lip/palate +MONDO:0015782 dysmorphism-cleft palate-loose skin syndrome MONDO:8000032 Orphanet:1779 Orphanet:377789 obsolete malformation syndrome +MONDO:0015785 Prader-Willi syndrome due to translocation MONDO:8000031 Orphanet:177907 Orphanet:557494 obsolete subtype of a disorder +MONDO:0015786 Prader-Willi syndrome due to imprinting mutation MONDO:8000031 Orphanet:177910 Orphanet:557494 obsolete subtype of a disorder +MONDO:0015787 symptomatic form of hemophilia A in female carriers MONDO:8000031 Orphanet:177926 Orphanet:557494 obsolete subtype of a disorder +MONDO:0015788 symptomatic form of hemophilia B in female carriers MONDO:8000031 Orphanet:177929 Orphanet:557494 obsolete subtype of a disorder +MONDO:0015789 obsolete non-acquired combined pituitary hormone deficiencies without extra-pituitary malformations MONDO:0018762 Orphanet:178025 Orphanet:467 non-acquired combined pituitary hormone deficiency +MONDO:0015791 peripheral precocious puberty MONDO:0033329 Orphanet:178040 Orphanet:435554 obsolete genetic precocious puberty +MONDO:0015793 moderate multiminicore disease with hand involvement MONDO:8000031 Orphanet:178145 Orphanet:557494 obsolete subtype of a disorder +MONDO:0015794 antenatal multiminicore disease with arthrogryposis multiplex congenita MONDO:8000031 Orphanet:178148 Orphanet:557494 obsolete subtype of a disorder +MONDO:0015795 undifferentiated embryonal sarcoma of the liver MONDO:0017632 Orphanet:178315 Orphanet:306636 obsolete rare tumor of liver and intrahepatic biliary tract +MONDO:0015796 acute lung injury MONDO:0015118 Orphanet:178320 Orphanet:101944 obsolete rare pulmonary disease +MONDO:0015796 acute lung injury MONDO:0032014 Orphanet:178320 Orphanet:377793 obsolete particular clinical situation in a disease or syndrome +MONDO:0015797 UV-sensitive syndrome MONDO:0019304 Orphanet:178338 Orphanet:79390 obsolete rare photodermatosis +MONDO:0015798 inflammatory myofibroblastic tumor MONDO:0019099 Orphanet:178342 Orphanet:71209 obsolete rare soft tissue tumor +MONDO:0015800 osteosclerosis-developmental delay-craniosynostosis syndrome MONDO:8000032 Orphanet:178377 Orphanet:377789 obsolete malformation syndrome +MONDO:0015801 hemorrhagic disease due to alpha-1-antitrypsin Pittsburgh mutation MONDO:0019039 Orphanet:178396 Orphanet:68334 obsolete rare hemorrhagic disorder due to a constitutional coagulation factors defect +MONDO:0015801 hemorrhagic disease due to alpha-1-antitrypsin Pittsburgh mutation MONDO:0027750 Orphanet:178396 Orphanet:250808 obsolete serpinopathy with toxic serpin polymerization +MONDO:0015802 autosomal dominant non-syndromic intellectual disability MONDO:0015108 Orphanet:178469 Orphanet:101685 obsolete rare non-syndromic intellectual disability +MONDO:0015802 autosomal dominant non-syndromic intellectual disability MONDO:8000031 Orphanet:178469 Orphanet:557494 obsolete subtype of a disorder +MONDO:0015811 primary cutaneous aggressive epidermotropic CD8+ T-cell lymphoma MONDO:0015817 Orphanet:178528 Orphanet:178551 obsolete aggressive primary cutaneous T-cell lymphoma +MONDO:0015812 primary cutaneous gamma/delta-positive T-cell lymphoma MONDO:0015817 Orphanet:178533 Orphanet:178551 obsolete aggressive primary cutaneous T-cell lymphoma +MONDO:0015817 obsolete aggressive primary cutaneous T-cell lymphoma MONDO:0015758 Orphanet:178551 Orphanet:171901 primary cutaneous T-cell lymphoma +MONDO:0015818 obsolete aggressive primary cutaneous B-cell lymphoma MONDO:0015820 Orphanet:178554 Orphanet:178563 primary cutaneous B-cell lymphoma +MONDO:0015818 obsolete aggressive primary cutaneous B-cell lymphoma MONDO:0017595 Orphanet:178554 Orphanet:300846 aggressive B-cell non-Hodgkin lymphoma +MONDO:0015822 obsolete acquired neutropenia MONDO:0017769 Orphanet:178996 Orphanet:310050 acquired immunodeficiency +MONDO:0015823 obsolete primary immunodeficiency due to a defect in adaptive immunity MONDO:0003778 Orphanet:179006 Orphanet:101997 inborn error of immunity +MONDO:0015824 oculomaxillofacial dysostosis MONDO:0015335 Orphanet:1794 Orphanet:139039 obsolete Mendelian syndromes with cleft lip/palate +MONDO:0015824 oculomaxillofacial dysostosis MONDO:0800085 Orphanet:1794 Orphanet:93453 obsolete dysostosis with predominant craniofacial involvement +MONDO:0015824 oculomaxillofacial dysostosis MONDO:8000032 Orphanet:1794 Orphanet:377789 obsolete malformation syndrome +MONDO:0015825 obsolete obesity due to congenital leptin resistance MONDO:0020075 Orphanet:179490 Orphanet:98267 obsolete hereditary non-syndromic obesity +MONDO:0015825 obsolete obesity due to congenital leptin resistance MONDO:8000031 Orphanet:179490 Orphanet:557494 obsolete subtype of a disorder +MONDO:0015826 autosomal dominant spondylocostal dysostosis MONDO:0019711 Orphanet:1797 Orphanet:93454 obsolete dysostosis with predominant vertebral and costal involvement +MONDO:0015826 autosomal dominant spondylocostal dysostosis MONDO:8000032 Orphanet:1797 Orphanet:377789 obsolete malformation syndrome +MONDO:0015827 distal renal tubular acidosis MONDO:0017828 Orphanet:18 Orphanet:314822 obsolete primary renal tubular acidosis +MONDO:0015828 obsolete uterovaginal malformation MONDO:0019937 Orphanet:180062 Orphanet:96344 obsolete rare gynecologic or obstetric disease +MONDO:0015829 obsolete non-syndromic uterovaginal malformation MONDO:0015828 Orphanet:180065 Orphanet:180062 obsolete uterovaginal malformation +MONDO:0015829 obsolete non-syndromic uterovaginal malformation MONDO:0015932 Orphanet:180065 Orphanet:182117 obsolete non-syndromic urogenital tract malformation of female +MONDO:0015832 true unicornuate uterus MONDO:8000030 Orphanet:180074 Orphanet:377791 obsolete morphological anomaly +MONDO:0015833 pseudounicornuate uterus MONDO:8000030 Orphanet:180079 Orphanet:377791 obsolete morphological anomaly +MONDO:0015834 didelphys uterus MONDO:8000030 Orphanet:180086 Orphanet:377791 obsolete morphological anomaly +MONDO:0015835 Bicervical bicornuate uterus and blind hemivagina MONDO:8000031 Orphanet:180106 Orphanet:557494 obsolete subtype of a disorder +MONDO:0015836 Bicervical bicornuate uterus with patent cervix and vagina MONDO:8000031 Orphanet:180111 Orphanet:557494 obsolete subtype of a disorder +MONDO:0015837 obsolete Unicervical bicornuate uterus MONDO:0015842 Orphanet:180114 Orphanet:180134 bicornuate uterus +MONDO:0015837 obsolete Unicervical bicornuate uterus MONDO:8000030 Orphanet:180114 Orphanet:377791 obsolete morphological anomaly +MONDO:0015839 septate uterus MONDO:0015829 Orphanet:180122 Orphanet:180065 obsolete non-syndromic uterovaginal malformation +MONDO:0015839 septate uterus MONDO:0018403 Orphanet:180122 Orphanet:399882 obsolete female infertility due to an implantation defect +MONDO:0015840 complete septate uterus MONDO:8000030 Orphanet:180126 Orphanet:377791 obsolete morphological anomaly +MONDO:0015841 partial septate uterus MONDO:8000030 Orphanet:180129 Orphanet:377791 obsolete morphological anomaly +MONDO:0015842 bicornuate uterus MONDO:0015829 Orphanet:180134 Orphanet:180065 obsolete non-syndromic uterovaginal malformation +MONDO:0015843 uterine hypoplasia MONDO:0015829 Orphanet:180139 Orphanet:180065 obsolete non-syndromic uterovaginal malformation +MONDO:0015843 uterine hypoplasia MONDO:8000030 Orphanet:180139 Orphanet:377791 obsolete morphological anomaly +MONDO:0015844 agenesis and aplasia of uterine body MONDO:0015829 Orphanet:180142 Orphanet:180065 obsolete non-syndromic uterovaginal malformation +MONDO:0015844 agenesis and aplasia of uterine body MONDO:0018403 Orphanet:180142 Orphanet:399882 obsolete female infertility due to an implantation defect +MONDO:0015844 agenesis and aplasia of uterine body MONDO:8000030 Orphanet:180142 Orphanet:377791 obsolete morphological anomaly +MONDO:0015845 uterine cervical aplasia and agenesis MONDO:0015829 Orphanet:180145 Orphanet:180065 obsolete non-syndromic uterovaginal malformation +MONDO:0015845 uterine cervical aplasia and agenesis MONDO:0018403 Orphanet:180145 Orphanet:399882 obsolete female infertility due to an implantation defect +MONDO:0015845 uterine cervical aplasia and agenesis MONDO:8000030 Orphanet:180145 Orphanet:377791 obsolete morphological anomaly +MONDO:0015846 obsolete syndromic uterovaginal malformation MONDO:0015828 Orphanet:180148 Orphanet:180062 obsolete uterovaginal malformation +MONDO:0015847 obsolete rare vaginal malformation MONDO:0015932 Orphanet:180151 Orphanet:182117 obsolete non-syndromic urogenital tract malformation of female +MONDO:0015847 obsolete rare vaginal malformation MONDO:0019937 Orphanet:180151 Orphanet:96344 obsolete rare gynecologic or obstetric disease +MONDO:0015847 obsolete rare vaginal malformation MONDO:0020026 Orphanet:180151 Orphanet:98049 obsolete rare female infertility +MONDO:0015848 obsolete septate vagina MONDO:0015847 Orphanet:180154 Orphanet:180151 obsolete rare vaginal malformation +MONDO:0015848 obsolete septate vagina MONDO:8000030 Orphanet:180154 Orphanet:377791 obsolete morphological anomaly +MONDO:0015849 longitudinal vaginal septum MONDO:0015848 Orphanet:180157 Orphanet:180154 obsolete septate vagina +MONDO:0015849 longitudinal vaginal septum MONDO:8000031 Orphanet:180157 Orphanet:557494 obsolete subtype of a disorder +MONDO:0015850 transverse vaginal septum MONDO:0015848 Orphanet:180160 Orphanet:180154 obsolete septate vagina +MONDO:0015850 transverse vaginal septum MONDO:8000031 Orphanet:180160 Orphanet:557494 obsolete subtype of a disorder +MONDO:0015851 obsolete rare breast malformation MONDO:0019937 Orphanet:180163 Orphanet:96344 obsolete rare gynecologic or obstetric disease +MONDO:0015852 obsolete excess breast volume or number MONDO:0015851 Orphanet:180170 Orphanet:180163 obsolete rare breast malformation +MONDO:0015853 obsolete deficient breast volume or number MONDO:0015851 Orphanet:180173 Orphanet:180163 obsolete rare breast malformation +MONDO:0015854 supernumerary breasts MONDO:0015852 Orphanet:180182 Orphanet:180170 obsolete excess breast volume or number +MONDO:0015854 supernumerary breasts MONDO:8000030 Orphanet:180182 Orphanet:377791 obsolete morphological anomaly +MONDO:0015855 isolated congenital breast hypoplasia/aplasia MONDO:0015853 Orphanet:180188 Orphanet:180173 obsolete deficient breast volume or number +MONDO:0015855 isolated congenital breast hypoplasia/aplasia MONDO:0015980 Orphanet:180188 Orphanet:183731 obsolete rare genetic gynecological and obstetrical diseases +MONDO:0015855 isolated congenital breast hypoplasia/aplasia MONDO:8000030 Orphanet:180188 Orphanet:377791 obsolete morphological anomaly +MONDO:0015856 syndromic breast hypoplasia/aplasia MONDO:0015853 Orphanet:180193 Orphanet:180173 obsolete deficient breast volume or number +MONDO:0015857 obsolete rare non-malformative gynecologic or obstetric disease MONDO:0019937 Orphanet:180199 Orphanet:96344 obsolete rare gynecologic or obstetric disease +MONDO:0015858 obsolete rare non-malformative breast disease MONDO:0015857 Orphanet:180202 Orphanet:180199 obsolete rare non-malformative gynecologic or obstetric disease +MONDO:0015859 obsolete rare non-malformative uterovaginal or vulvovaginal disease MONDO:0015857 Orphanet:180205 Orphanet:180199 obsolete rare non-malformative gynecologic or obstetric disease +MONDO:0015860 obsolete anomaly of puberty or/and menstrual cycle MONDO:0019937 Orphanet:180208 Orphanet:96344 obsolete rare gynecologic or obstetric disease +MONDO:0015861 obsolete rare uterine adnexal tumor MONDO:0020037 Orphanet:180220 Orphanet:98063 obsolete rare gynecological tumor +MONDO:0015867 vaginal carcinoma MONDO:0015876 Orphanet:180247 Orphanet:180312 obsolete rare vulvovaginal tumor +MONDO:0015868 obsolete rare breast tumor MONDO:0020037 Orphanet:180250 Orphanet:98063 obsolete rare gynecological tumor +MONDO:0015869 obsolete rare benign breast tumor MONDO:0015868 Orphanet:180253 Orphanet:180250 obsolete rare breast tumor +MONDO:0015870 obsolete rare malignant breast tumor MONDO:0015868 Orphanet:180257 Orphanet:180250 obsolete rare breast tumor +MONDO:0015871 benign breast phyllodes tumor MONDO:0015869 Orphanet:180261 Orphanet:180253 obsolete rare benign breast tumor +MONDO:0015871 benign breast phyllodes tumor MONDO:0015870 Orphanet:180261 Orphanet:180257 obsolete rare malignant breast tumor +MONDO:0015872 giant adenofibroma of the breast MONDO:0015869 Orphanet:180267 Orphanet:180253 obsolete rare benign breast tumor +MONDO:0015873 Paget disease of the nipple MONDO:0015870 Orphanet:180275 Orphanet:180257 obsolete rare malignant breast tumor +MONDO:0015875 obsolete rare non-malformative uterine adnexal disease MONDO:0015857 Orphanet:180303 Orphanet:180199 obsolete rare non-malformative gynecologic or obstetric disease +MONDO:0015876 obsolete rare vulvovaginal tumor MONDO:0020037 Orphanet:180312 Orphanet:98063 obsolete rare gynecological tumor +MONDO:0015877 obsolete malformative syndrome with dentinogenesis imperfecta MONDO:0015336 Orphanet:180766 Orphanet:139042 obsolete malformation syndrome with odontal and/or periodontal component +MONDO:0015877 obsolete malformative syndrome with dentinogenesis imperfecta MONDO:0019183 Orphanet:180766 Orphanet:77830 obsolete inherited odontologic disease +MONDO:0015878 obsolete rare disease with autism MONDO:0015680 Orphanet:180772 Orphanet:168778 obsolete rare pervasive developmental disorder +MONDO:0015879 obsolete non-syndromic diaphragmatic or thoracic malformation MONDO:0020002 Orphanet:180776 Orphanet:97962 obsolete rare surgical thoracic disease +MONDO:0015880 obsolete syndromic diaphragmatic or thoracic malformation MONDO:0020002 Orphanet:180779 Orphanet:97962 obsolete rare surgical thoracic disease +MONDO:0015881 obsolete gastroesophageal tumor MONDO:0015111 Orphanet:180821 Orphanet:101936 obsolete gastroesophageal disease +MONDO:0015881 obsolete gastroesophageal tumor MONDO:0020033 Orphanet:180821 Orphanet:98059 obsolete rare digestive tumor +MONDO:0015882 obsolete rare tumor of pancreas MONDO:0015112 Orphanet:180824 Orphanet:101937 obsolete rare pancreatic disease +MONDO:0015882 obsolete rare tumor of pancreas MONDO:0020033 Orphanet:180824 Orphanet:98059 obsolete rare digestive tumor +MONDO:0015883 hidrotic ectodermal dysplasia, Halal type MONDO:0035863 Orphanet:1809 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0015883 hidrotic ectodermal dysplasia, Halal type MONDO:8000032 Orphanet:1809 Orphanet:377789 obsolete malformation syndrome +MONDO:0015884 autosomal dominant hypohidrotic ectodermal dysplasia MONDO:8000031 Orphanet:1810 Orphanet:557494 obsolete subtype of a disorder +MONDO:0015885 obsolete rare insulin-resistance syndrome MONDO:0015122 Orphanet:181368 Orphanet:101952 obsolete rare diabetes mellitus +MONDO:0015885 obsolete rare insulin-resistance syndrome MONDO:0015967 Orphanet:181368 Orphanet:183625 monogenic diabetes +MONDO:0015886 obsolete rare diabetes mellitus type 1 MONDO:0015122 Orphanet:181371 Orphanet:101952 obsolete rare diabetes mellitus +MONDO:0015887 obsolete rare diabetes mellitus type 2 MONDO:0015122 Orphanet:181376 Orphanet:101952 obsolete rare diabetes mellitus +MONDO:0015888 obsolete other rare diabetes mellitus MONDO:0015122 Orphanet:181381 Orphanet:101952 obsolete rare diabetes mellitus +MONDO:0015889 obsolete rare hypothalamic or pituitary disease MONDO:0020005 Orphanet:181384 Orphanet:97978 obsolete rare endocrine disease +MONDO:0015890 obsolete rare disorder with congenital hypogonadotropic hypogonadism MONDO:0015770 Orphanet:181387 Orphanet:174590 congenital hypogonadotropic hypogonadism +MONDO:0015891 obsolete hypogonadotropic hypogonadism associated with other endocrinopathies MONDO:0015770 Orphanet:181390 Orphanet:174590 congenital hypogonadotropic hypogonadism +MONDO:0015891 obsolete hypogonadotropic hypogonadism associated with other endocrinopathies MONDO:0018398 Orphanet:181390 Orphanet:399839 obsolete female infertility due to a congenital hypogonadotropic hypogonadism +MONDO:0015892 growth hormone insensitivity syndrome MONDO:0015968 Orphanet:181393 Orphanet:183628 obsolete rare genetic hypothalamic or pituitary disease +MONDO:0015892 growth hormone insensitivity syndrome MONDO:0019590 Orphanet:181393 Orphanet:90692 obsolete rare endocrine growth disease +MONDO:0015893 obsolete rare hypothyroidism MONDO:0015125 Orphanet:181396 Orphanet:101955 obsolete rare thyroid disease +MONDO:0015893 obsolete rare hypothyroidism MONDO:0015969 Orphanet:181396 Orphanet:183631 obsolete rare genetic thyroid disease +MONDO:0015894 obsolete rare hyperthyroidism MONDO:0015125 Orphanet:181399 Orphanet:101955 obsolete rare thyroid disease +MONDO:0015894 obsolete rare hyperthyroidism MONDO:0015969 Orphanet:181399 Orphanet:183631 obsolete rare genetic thyroid disease +MONDO:0015895 obsolete syndrome with hypoparathyroidism MONDO:0015896 Orphanet:181402 Orphanet:181405 obsolete rare hypoparathyroidism +MONDO:0015895 obsolete syndrome with hypoparathyroidism MONDO:0016165 Orphanet:181402 Orphanet:208593 hereditary hypoparathyroidism +MONDO:0015896 obsolete rare hypoparathyroidism MONDO:0019061 Orphanet:181405 Orphanet:68415 obsolete rare parathyroid disease and phosphocalcic metabolism anomaly +MONDO:0015897 obsolete rare hyperparathyroidism MONDO:0019061 Orphanet:181408 Orphanet:68415 obsolete rare parathyroid disease and phosphocalcic metabolism anomaly +MONDO:0015898 adrenogenital syndrome MONDO:0015124 Orphanet:181412 Orphanet:101954 obsolete rare adrenal disease +MONDO:0015898 adrenogenital syndrome MONDO:0015971 Orphanet:181412 Orphanet:183637 obsolete rare genetic adrenal disease +MONDO:0015899 obsolete rare primary hyperaldosteronism MONDO:0015124 Orphanet:181415 Orphanet:101954 obsolete rare adrenal disease +MONDO:0015900 hypoaldosteronism disease MONDO:0015124 Orphanet:181419 Orphanet:101954 obsolete rare adrenal disease +MONDO:0015901 obsolete rare inherited hyperlipidemia MONDO:0015123 Orphanet:181422 Orphanet:101953 obsolete rare inherited dyslipidemia +MONDO:0015903 hyperalphalipoproteinemia MONDO:0015901 Orphanet:181428 Orphanet:181422 obsolete rare inherited hyperlipidemia +MONDO:0015904 obsolete rare hypolipidemia MONDO:0015123 Orphanet:181431 Orphanet:101953 obsolete rare inherited dyslipidemia +MONDO:0015905 syndromic dyslipidemia MONDO:0015123 Orphanet:181437 Orphanet:101953 obsolete rare inherited dyslipidemia +MONDO:0015906 obsolete rare disorder with hypergonadotropic hypogonadism MONDO:0015513 Orphanet:181441 Orphanet:156638 obsolete rare genetic endocrine disease +MONDO:0015906 obsolete rare disorder with hypergonadotropic hypogonadism MONDO:0018388 Orphanet:181441 Orphanet:399685 obsolete rare male infertility due to testicular endocrine disorder +MONDO:0015906 obsolete rare disorder with hypergonadotropic hypogonadism MONDO:0020005 Orphanet:181441 Orphanet:97978 obsolete rare endocrine disease +MONDO:0015908 chromomycosis MONDO:0015578 Orphanet:182 Orphanet:163591 obsolete rare mycosis +MONDO:0015909 aplastic anemia MONDO:0015223 Orphanet:182040 Orphanet:108997 obsolete rare anemia +MONDO:0015910 obsolete rare constitutional hemolytic anemia MONDO:0015972 Orphanet:182043 Orphanet:183651 obsolete rare constitutional anemia +MONDO:0015910 obsolete rare constitutional hemolytic anemia MONDO:0020100 Orphanet:182043 Orphanet:98363 obsolete rare hemolytic anemia +MONDO:0015911 obsolete rare acquired hemolytic anemia MONDO:0020100 Orphanet:182047 Orphanet:98363 obsolete rare hemolytic anemia +MONDO:0015912 macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss MONDO:0019589 Orphanet:182050 Orphanet:90642 obsolete syndromic genetic hearing loss +MONDO:0015913 obsolete rare thrombotic disease of hematologic origin MONDO:0020116 Orphanet:182054 Orphanet:98429 obsolete rare blood coagulation disease +MONDO:0015914 primary orthostatic hypotension MONDO:0035014 Orphanet:182058 Orphanet:521236 obsolete primary orthostatic disorder +MONDO:0015915 obsolete cerebellar malformation MONDO:0020133 Orphanet:182061 Orphanet:98519 obsolete posterior fossa malformation +MONDO:0015916 obsolete rare neuroinflammatory or neuroimmunological disease MONDO:0020009 Orphanet:182064 Orphanet:98006 obsolete rare neurologic disease +MONDO:0015918 obsolete rare neurodegenerative disease MONDO:0020009 Orphanet:182070 Orphanet:98006 obsolete rare neurologic disease +MONDO:0015921 obsolete ARX-related epileptic encephalopathy MONDO:0015653 Orphanet:182079 Orphanet:166472 monogenic epilepsy +MONDO:0015922 obsolete channelopathy with epilepsy MONDO:0015653 Orphanet:182083 Orphanet:166472 monogenic epilepsy +MONDO:0015923 acquired peripheral neuropathy MONDO:0020126 Orphanet:182086 Orphanet:98496 obsolete rare peripheral neuropathy +MONDO:0015924 pulmonary arterial hypertension MONDO:0019096 Orphanet:182090 Orphanet:71198 obsolete rare pulmonary hypertension +MONDO:0015925 interstitial lung disease MONDO:0015118 Orphanet:182095 Orphanet:101944 obsolete rare pulmonary disease +MONDO:0015926 pneumoconiosis MONDO:0017027 Orphanet:182098 Orphanet:264740 obsolete primary interstitial lung disease specific to adulthood +MONDO:0015927 idiopathic eosinophilic pneumonia MONDO:0017033 Orphanet:182101 Orphanet:264935 obsolete primary interstitial lung disease in childhood and adulthood due to alveolar vascular disorder +MONDO:0015928 obsolete secondary interstitial lung disease in childhood and adulthood associated with a connective tissue disease MONDO:0017035 Orphanet:182104 Orphanet:264949 obsolete secondary interstitial lung disease in childhood and adulthood associated with a systemic disease +MONDO:0015930 obsolete respiratory malformation MONDO:0020001 Orphanet:182111 Orphanet:97957 respiratory or thoracic malformation +MONDO:0015931 obsolete rare urogenital tumor MONDO:0015106 Orphanet:182114 Orphanet:101433 obsolete rare urogenital disease +MONDO:0015931 obsolete rare urogenital tumor MONDO:0020031 Orphanet:182114 Orphanet:98057 obsolete rare tumor +MONDO:0015932 obsolete non-syndromic urogenital tract malformation of female MONDO:0015619 Orphanet:182117 Orphanet:165704 obsolete non-syndromic urogenital tract malformation +MONDO:0015933 obsolete non-syndromic urogenital tract malformation of male MONDO:0015619 Orphanet:182121 Orphanet:165704 obsolete non-syndromic urogenital tract malformation +MONDO:0015934 obsolete non-syndromic urogenital tract malformation of male and female MONDO:0015619 Orphanet:182124 Orphanet:165704 obsolete non-syndromic urogenital tract malformation +MONDO:0015936 obsolete rare tumor of endocrine glands MONDO:0020031 Orphanet:182130 Orphanet:98057 obsolete rare tumor +MONDO:0015940 obsolete rare rheumatologic disease MONDO:0037860 Orphanet:182231 Orphanet:98023 obsolete rare systemic or rheumatologic disease +MONDO:0015941 epiphyseal dysplasia-hearing loss-dysmorphism syndrome MONDO:0035863 Orphanet:1825 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0015941 epiphyseal dysplasia-hearing loss-dysmorphism syndrome MONDO:8000032 Orphanet:1825 Orphanet:377789 obsolete malformation syndrome +MONDO:0015942 frontometaphyseal dysplasia MONDO:0020018 Orphanet:1826 Orphanet:98038 obsolete cranial malformation +MONDO:0015942 frontometaphyseal dysplasia MONDO:0026182 Orphanet:1826 Orphanet:183542 obsolete genetic cranial malformation +MONDO:0015942 frontometaphyseal dysplasia MONDO:0035863 Orphanet:1826 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0015943 eosinophilic granulomatosis with polyangiitis MONDO:0016177 Orphanet:183 Orphanet:209007 obsolete systemic inflammatory disease associated with an acquired peripheral neuropathy +MONDO:0015943 eosinophilic granulomatosis with polyangiitis MONDO:0017952 Orphanet:183 Orphanet:324767 obsolete non-familial rare disease with dilated cardiomyopathy +MONDO:0015944 axial mesodermal dysplasia spectrum MONDO:0015246 Orphanet:1834 Orphanet:117573 obsolete syndromic anorectal malformation +MONDO:0015944 axial mesodermal dysplasia spectrum MONDO:0019721 Orphanet:1834 Orphanet:93547 obsolete syndromic renal or urinary tract malformation +MONDO:0015944 axial mesodermal dysplasia spectrum MONDO:8000032 Orphanet:1834 Orphanet:377789 obsolete malformation syndrome +MONDO:0015945 obsolete polymalformative genetic syndrome with increased risk of developing cancer MONDO:0015356 Orphanet:183422 Orphanet:140162 hereditary neoplastic syndrome +MONDO:0015946 obsolete rare genetic epidermal disorder MONDO:0019043 Orphanet:183426 Orphanet:68346 obsolete rare genetic skin disease +MONDO:0015947 inherited ichthyosis MONDO:0015946 Orphanet:183435 Orphanet:183426 obsolete rare genetic epidermal disorder +MONDO:0015948 obsolete rare genetic skin vascular disorder MONDO:0026160 Orphanet:183478 Orphanet:183472 obsolete genetic dermis disorder +MONDO:0015949 obsolete rare genetic subcutaneous tissue disorder MONDO:0019043 Orphanet:183484 Orphanet:68346 obsolete rare genetic skin disease +MONDO:0015950 obsolete inherited skin tumor MONDO:0019041 Orphanet:183487 Orphanet:68336 obsolete rare genetic inherited tumor +MONDO:0015950 obsolete inherited skin tumor MONDO:0019043 Orphanet:183487 Orphanet:68346 obsolete rare genetic skin disease +MONDO:0015951 hereditary photodermatosis MONDO:0019043 Orphanet:183490 Orphanet:68346 obsolete rare genetic skin disease +MONDO:0015953 obsolete genetic central nervous system and retinal vascular disease MONDO:0019117 Orphanet:183503 Orphanet:71859 obsolete genetic nervous system disorder +MONDO:0015954 obsolete rare genetic headache disorder MONDO:0019117 Orphanet:183509 Orphanet:71859 obsolete genetic nervous system disorder +MONDO:0015955 obsolete rare genetic epilepsy MONDO:0019117 Orphanet:183512 Orphanet:71859 obsolete genetic nervous system disorder +MONDO:0015957 obsolete rare genetic movement disorder MONDO:0019117 Orphanet:183521 Orphanet:71859 obsolete genetic nervous system disorder +MONDO:0015958 obsolete rare genetic bone disease MONDO:0021198 Orphanet:183524 Orphanet:98053 obsolete rare genetic disease +MONDO:0015959 obsolete inherited syndrome with bone tumors as a major feature MONDO:0019041 Orphanet:183527 Orphanet:68336 obsolete rare genetic inherited tumor +MONDO:0015960 obsolete rare genetic developmental defect during embryogenesis MONDO:0021198 Orphanet:183530 Orphanet:98053 obsolete rare genetic disease +MONDO:0015961 obsolete hereditary head and neck malformation MONDO:0015960 Orphanet:183583 Orphanet:183530 obsolete rare genetic developmental defect during embryogenesis +MONDO:0015962 inherited renal tubular disease MONDO:0020030 Orphanet:183592 Orphanet:98056 obsolete rare genetic renal disease +MONDO:0015963 obsolete inherited renal tumor MONDO:0019041 Orphanet:183595 Orphanet:68336 obsolete rare genetic inherited tumor +MONDO:0015966 obsolete hereditary eye tumor MONDO:0015107 Orphanet:183619 Orphanet:101435 obsolete rare genetic eye disease +MONDO:0015966 obsolete hereditary eye tumor MONDO:0019041 Orphanet:183619 Orphanet:68336 obsolete rare genetic inherited tumor +MONDO:0015967 monogenic diabetes MONDO:0015513 Orphanet:183625 Orphanet:156638 obsolete rare genetic endocrine disease +MONDO:0015968 obsolete rare genetic hypothalamic or pituitary disease MONDO:0015513 Orphanet:183628 Orphanet:156638 obsolete rare genetic endocrine disease +MONDO:0015969 obsolete rare genetic thyroid disease MONDO:0015513 Orphanet:183631 Orphanet:156638 obsolete rare genetic endocrine disease +MONDO:0015970 obsolete rare genetic parathyroid disease and phosphocalcic metabolism disorder MONDO:0015513 Orphanet:183634 Orphanet:156638 obsolete rare genetic endocrine disease +MONDO:0015971 obsolete rare genetic adrenal disease MONDO:0015513 Orphanet:183637 Orphanet:156638 obsolete rare genetic endocrine disease +MONDO:0015972 obsolete rare constitutional anemia MONDO:0015549 Orphanet:183651 Orphanet:158300 obsolete rare genetic hematologic disease MONDO:0015975 obsolete hyper-IgM syndrome with susceptibility to opportunistic infections MONDO:0000001 Orphanet:183663 Orphanet:377788 disease +MONDO:0015975 obsolete hyper-IgM syndrome with susceptibility to opportunistic infections MONDO:0018814 Orphanet:183663 Orphanet:480549 non-SCID combined immunodeficiency MONDO:0015976 obsolete hyper-IgM syndrome without susceptibility to opportunistic infections MONDO:0000001 Orphanet:183666 Orphanet:377788 disease +MONDO:0015976 obsolete hyper-IgM syndrome without susceptibility to opportunistic infections MONDO:0018040 Orphanet:183666 Orphanet:331240 obsolete immunodeficiency with severe reduction in serum IgG and IgA with normal/elevated IgM and normal number of B-cells +MONDO:0015977 agammaglobulinemia MONDO:0015132 Orphanet:183669 Orphanet:101977 obsolete immunodeficiency predominantly affecting antibody production +MONDO:0015978 functional neutrophil defect MONDO:0015133 Orphanet:183681 Orphanet:101985 obsolete quantitative and/or qualitative congenital phagocyte defect +MONDO:0015979 hereditary predisposition to infections MONDO:0015135 Orphanet:183710 Orphanet:101988 obsolete primary immunodeficiency due to a genetic defect in innate immunity +MONDO:0015980 obsolete rare genetic gynecological and obstetrical diseases MONDO:0021198 Orphanet:183731 Orphanet:98053 obsolete rare genetic disease +MONDO:0015981 obsolete inherited gynecological tumor MONDO:0019041 Orphanet:183734 Orphanet:68336 obsolete rare genetic inherited tumor +MONDO:0015982 obsolete rare genetic intellectual disability MONDO:0019117 Orphanet:183757 Orphanet:71859 obsolete genetic nervous system disorder +MONDO:0015983 obsolete rare genetic syndromic intellectual disability MONDO:0015982 Orphanet:183763 Orphanet:183757 obsolete rare genetic intellectual disability +MONDO:0015984 obsolete rare genetic immune disease MONDO:0021198 Orphanet:183770 Orphanet:98053 obsolete rare genetic disease +MONDO:0015986 bilateral renal agenesis MONDO:8000031 Orphanet:1848 Orphanet:557494 obsolete subtype of a disorder +MONDO:0015987 scimitar syndrome MONDO:0015930 Orphanet:185 Orphanet:182111 obsolete respiratory malformation +MONDO:0015987 scimitar syndrome MONDO:8000032 Orphanet:185 Orphanet:377789 obsolete malformation syndrome +MONDO:0015988 multicystic dysplastic kidney MONDO:0019720 Orphanet:1851 Orphanet:93546 obsolete non-syndromic renal or urinary tract malformation +MONDO:0015988 multicystic dysplastic kidney MONDO:8000030 Orphanet:1851 Orphanet:377791 obsolete morphological anomaly +MONDO:0015993 cone-rod dystrophy MONDO:0022399 Orphanet:1872 Orphanet:156171 obsolete retinal ciliopathy due to mutation in the RPGR gene +MONDO:0015993 cone-rod dystrophy MONDO:0022400 Orphanet:1872 Orphanet:156174 obsolete retinal ciliopathy due to mutation in the RPGRIP gene +MONDO:0015995 melorheostosis with osteopoikilosis MONDO:8000032 Orphanet:1879 Orphanet:377789 obsolete malformation syndrome +MONDO:0015997 ectopia lentis-chorioretinal dystrophy-myopia syndrome MONDO:0020225 Orphanet:1884 Orphanet:98641 obsolete syndromic cataract +MONDO:0015998 isolated ectopia lentis MONDO:0020236 Orphanet:1885 Orphanet:98653 obsolete lens position anomaly +MONDO:0015998 isolated ectopia lentis MONDO:8000032 Orphanet:1885 Orphanet:377789 obsolete malformation syndrome +MONDO:0016000 familial isolated hypoparathyroidism due to impaired PTH secretion MONDO:8000031 Orphanet:189466 Orphanet:557494 obsolete subtype of a disorder +MONDO:0016001 2-hydroxyglutaric aciduria MONDO:0016399 Orphanet:19 Orphanet:225689 obsolete amino acid or protein metabolism disease with epilepsy +MONDO:0016001 2-hydroxyglutaric aciduria MONDO:0019058 Orphanet:19 Orphanet:68385 obsolete neurometabolic disease +MONDO:0016001 2-hydroxyglutaric aciduria MONDO:0019213 Orphanet:19 Orphanet:79158 obsolete cerebral organic aciduria +MONDO:0016002 Ehlers-Danlos syndrome, kyphoscoliotic type 1 MONDO:0034024 Orphanet:1900 Orphanet:536545 obsolete kyphoscoliotic Ehlers-Danlos syndrome +MONDO:0016002 Ehlers-Danlos syndrome, kyphoscoliotic type 1 MONDO:8000031 Orphanet:1900 Orphanet:557494 obsolete subtype of a disorder +MONDO:0016004 aminopterin/methotrexate embryofetopathy MONDO:0015323 Orphanet:1908 Orphanet:138059 obsolete teratogenic Pierre Robin syndrome +MONDO:0016004 aminopterin/methotrexate embryofetopathy MONDO:8000032 Orphanet:1908 Orphanet:377789 obsolete malformation syndrome +MONDO:0016005 indomethacin embryofetopathy MONDO:0015323 Orphanet:1909 Orphanet:138059 obsolete teratogenic Pierre Robin syndrome +MONDO:0016005 indomethacin embryofetopathy MONDO:8000032 Orphanet:1909 Orphanet:377789 obsolete malformation syndrome +MONDO:0016006 Cockayne syndrome MONDO:0015331 Orphanet:191 Orphanet:139027 obsolete malformation syndrome with skin/mucosae involvement +MONDO:0016006 Cockayne syndrome MONDO:0015918 Orphanet:191 Orphanet:182070 obsolete rare neurodegenerative disease +MONDO:0016006 Cockayne syndrome MONDO:0015945 Orphanet:191 Orphanet:183422 obsolete polymalformative genetic syndrome with increased risk of developing cancer +MONDO:0016006 Cockayne syndrome MONDO:0019589 Orphanet:191 Orphanet:90642 obsolete syndromic genetic hearing loss +MONDO:0016006 Cockayne syndrome MONDO:0020240 Orphanet:191 Orphanet:98661 obsolete syndromic retinitis pigmentosa +MONDO:0016006 Cockayne syndrome MONDO:0031689 Orphanet:191 Orphanet:363245 obsolete genetic progeroid syndrome +MONDO:0016006 Cockayne syndrome MONDO:0035863 Orphanet:191 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0016007 cocaine embryofetopathy MONDO:0015323 Orphanet:1911 Orphanet:138059 obsolete teratogenic Pierre Robin syndrome +MONDO:0016007 cocaine embryofetopathy MONDO:8000032 Orphanet:1911 Orphanet:377789 obsolete malformation syndrome +MONDO:0016008 fetal hydantoin syndrome MONDO:0015323 Orphanet:1912 Orphanet:138059 obsolete teratogenic Pierre Robin syndrome +MONDO:0016008 fetal hydantoin syndrome MONDO:0018262 Orphanet:1912 Orphanet:370068 obsolete fetal anticonvulsant syndrome +MONDO:0016008 fetal hydantoin syndrome MONDO:8000032 Orphanet:1912 Orphanet:377789 obsolete malformation syndrome +MONDO:0016009 fetal trimethadione syndrome MONDO:0015323 Orphanet:1913 Orphanet:138059 obsolete teratogenic Pierre Robin syndrome +MONDO:0016009 fetal trimethadione syndrome MONDO:0018262 Orphanet:1913 Orphanet:370068 obsolete fetal anticonvulsant syndrome +MONDO:0016009 fetal trimethadione syndrome MONDO:8000032 Orphanet:1913 Orphanet:377789 obsolete malformation syndrome +MONDO:0016010 vitamin K-antagonist embryofetopathy MONDO:0015323 Orphanet:1914 Orphanet:138059 obsolete teratogenic Pierre Robin syndrome +MONDO:0016010 vitamin K-antagonist embryofetopathy MONDO:8000032 Orphanet:1914 Orphanet:377789 obsolete malformation syndrome +MONDO:0016011 fetal alcohol syndrome MONDO:0015323 Orphanet:1915 Orphanet:138059 obsolete teratogenic Pierre Robin syndrome +MONDO:0016011 fetal alcohol syndrome MONDO:8000032 Orphanet:1915 Orphanet:377789 obsolete malformation syndrome +MONDO:0016012 diethylstilbestrol syndrome MONDO:0015829 Orphanet:1916 Orphanet:180065 obsolete non-syndromic uterovaginal malformation +MONDO:0016012 diethylstilbestrol syndrome MONDO:0018403 Orphanet:1916 Orphanet:399882 obsolete female infertility due to an implantation defect +MONDO:0016012 diethylstilbestrol syndrome MONDO:8000032 Orphanet:1916 Orphanet:377789 obsolete malformation syndrome +MONDO:0016013 fetal methylmercury syndrome MONDO:0015323 Orphanet:1917 Orphanet:138059 obsolete teratogenic Pierre Robin syndrome +MONDO:0016013 fetal methylmercury syndrome MONDO:8000032 Orphanet:1917 Orphanet:377789 obsolete malformation syndrome +MONDO:0016014 fetal minoxidil syndrome MONDO:0015323 Orphanet:1918 Orphanet:138059 obsolete teratogenic Pierre Robin syndrome +MONDO:0016014 fetal minoxidil syndrome MONDO:8000032 Orphanet:1918 Orphanet:377789 obsolete malformation syndrome +MONDO:0016015 phenobarbital embryopathy MONDO:0015323 Orphanet:1919 Orphanet:138059 obsolete teratogenic Pierre Robin syndrome +MONDO:0016015 phenobarbital embryopathy MONDO:0018262 Orphanet:1919 Orphanet:370068 obsolete fetal anticonvulsant syndrome +MONDO:0016015 phenobarbital embryopathy MONDO:8000032 Orphanet:1919 Orphanet:377789 obsolete malformation syndrome +MONDO:0016016 toluene embryopathy MONDO:0015323 Orphanet:1920 Orphanet:138059 obsolete teratogenic Pierre Robin syndrome +MONDO:0016016 toluene embryopathy MONDO:8000032 Orphanet:1920 Orphanet:377789 obsolete malformation syndrome +MONDO:0016017 methimazole embryofetopathy MONDO:0015323 Orphanet:1923 Orphanet:138059 obsolete teratogenic Pierre Robin syndrome +MONDO:0016017 methimazole embryofetopathy MONDO:8000032 Orphanet:1923 Orphanet:377789 obsolete malformation syndrome +MONDO:0016018 diabetic embryopathy MONDO:0015323 Orphanet:1926 Orphanet:138059 obsolete teratogenic Pierre Robin syndrome +MONDO:0016018 diabetic embryopathy MONDO:0016678 Orphanet:1926 Orphanet:251535 obsolete maternal disease-related embryofetopathy +MONDO:0016018 diabetic embryopathy MONDO:8000032 Orphanet:1926 Orphanet:377789 obsolete malformation syndrome +MONDO:0016019 Rasmussen subacute encephalitis MONDO:0015657 Orphanet:1929 Orphanet:166484 obsolete inflammatory and autoimmune disease with epilepsy +MONDO:0016019 Rasmussen subacute encephalitis MONDO:0020069 Orphanet:1929 Orphanet:98255 obsolete chronic encephalitis +MONDO:0016020 frontal encephalocele MONDO:8000031 Orphanet:1931 Orphanet:557494 obsolete subtype of a disorder +MONDO:0016022 early myoclonic encephalopathy MONDO:0032013 Orphanet:1935 Orphanet:377792 obsolete clinical syndrome +MONDO:0016025 myoclonic-astatic epilepsy MONDO:0035862 Orphanet:1942 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome +MONDO:0016031 facial dysmorphism-anorexia-cachexia-eye and skin anomalies syndrome MONDO:0043008 Orphanet:1969 Orphanet:330206 obsolete genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability +MONDO:0016031 facial dysmorphism-anorexia-cachexia-eye and skin anomalies syndrome MONDO:8000032 Orphanet:1969 Orphanet:377789 obsolete malformation syndrome +MONDO:0016032 femoral agenesis/hypoplasia MONDO:0017420 Orphanet:1987 Orphanet:294927 obsolete intercalary limb defects +MONDO:0016032 femoral agenesis/hypoplasia MONDO:8000032 Orphanet:1987 Orphanet:377789 obsolete malformation syndrome +MONDO:0016033 Cornelia de Lange syndrome MONDO:0015216 Orphanet:199 Orphanet:108979 obsolete syndromic diaphragmatic or abdominal wall malformation +MONDO:0016033 Cornelia de Lange syndrome MONDO:0015329 Orphanet:199 Orphanet:139021 obsolete malformation syndrome with short stature +MONDO:0016033 Cornelia de Lange syndrome MONDO:0015880 Orphanet:199 Orphanet:180779 obsolete syndromic diaphragmatic or thoracic malformation +MONDO:0016033 Cornelia de Lange syndrome MONDO:0017432 Orphanet:199 Orphanet:294955 obsolete syndrome with limb reduction defects +MONDO:0016033 Cornelia de Lange syndrome MONDO:0020169 Orphanet:199 Orphanet:98578 obsolete rare disorder with ptosis +MONDO:0016033 Cornelia de Lange syndrome MONDO:0024149 Orphanet:199 Orphanet:138055 obsolete Pierre Robin syndrome associated with bone disease +MONDO:0016033 Cornelia de Lange syndrome MONDO:0026187 Orphanet:199 Orphanet:183570 obsolete genetic malformation syndrome with short stature +MONDO:0016033 Cornelia de Lange syndrome MONDO:0035863 Orphanet:199 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0016033 Cornelia de Lange syndrome MONDO:8000032 Orphanet:199 Orphanet:377789 obsolete malformation syndrome +MONDO:0016034 obsolete cleft lip with or without cleft palate MONDO:0015475 Orphanet:1991 Orphanet:155832 obsolete rare head and neck malformation +MONDO:0016034 obsolete cleft lip with or without cleft palate MONDO:0019038 Orphanet:1991 Orphanet:68329 obsolete rare maxillo-facial surgical disease +MONDO:0016035 Nelson syndrome MONDO:0032013 Orphanet:199244 Orphanet:377792 obsolete clinical syndrome +MONDO:0016037 superficial Fibromatosis MONDO:0019300 Orphanet:199257 Orphanet:79386 obsolete rare skin tumor or hamartoma +MONDO:0016040 harlequin syndrome MONDO:0018497 Orphanet:199282 Orphanet:423662 obsolete rare autonomic nervous system disorder +MONDO:0016040 harlequin syndrome MONDO:0018557 Orphanet:199282 Orphanet:434786 obsolete rare genetic autonomic nervous system disorder +MONDO:0016041 congenital microgastria MONDO:0015209 Orphanet:199293 Orphanet:108963 obsolete non-syndromic gastroduodenal malformation +MONDO:0016041 congenital microgastria MONDO:8000030 Orphanet:199293 Orphanet:377791 obsolete morphological anomaly +MONDO:0016043 isolated cleft lip MONDO:0016034 Orphanet:199302 Orphanet:1991 obsolete cleft lip with or without cleft palate +MONDO:0016043 isolated cleft lip MONDO:8000030 Orphanet:199302 Orphanet:377791 obsolete morphological anomaly +MONDO:0016044 cleft lip/palate MONDO:0016034 Orphanet:199306 Orphanet:1991 obsolete cleft lip with or without cleft palate +MONDO:0016044 cleft lip/palate MONDO:8000030 Orphanet:199306 Orphanet:377791 obsolete morphological anomaly +MONDO:0016045 tetragametic chimerism MONDO:0017006 Orphanet:199310 Orphanet:263749 obsolete X and Y chromosomal anomaly +MONDO:0016045 tetragametic chimerism MONDO:0017978 Orphanet:199310 Orphanet:325638 obsolete syndrome with disorder of sex development of gynecological interest +MONDO:0016045 tetragametic chimerism MONDO:8000032 Orphanet:199310 Orphanet:377789 obsolete malformation syndrome +MONDO:0016046 familial clubfoot with or without associated lower limb anomalies MONDO:0015226 Orphanet:199315 Orphanet:109009 obsolete syndrome with limb malformations as a major feature +MONDO:0016046 familial clubfoot with or without associated lower limb anomalies MONDO:0018235 Orphanet:199315 Orphanet:364568 obsolete dysostosis with limb anomaly as a major feature +MONDO:0016046 familial clubfoot with or without associated lower limb anomalies MONDO:0018455 Orphanet:199315 Orphanet:404571 obsolete dysostosis of genetic origin with limb anomaly as a major feature +MONDO:0016046 familial clubfoot with or without associated lower limb anomalies MONDO:8000032 Orphanet:199315 Orphanet:377789 obsolete malformation syndrome +MONDO:0016048 isolated autosomal dominant hypomagnesemia, Glaudemans type MONDO:0019744 Orphanet:199326 Orphanet:93603 obsolete rare renal tubular disease +MONDO:0016051 cleft lip-retinopathy syndrome MONDO:0015335 Orphanet:1995 Orphanet:139039 obsolete Mendelian syndromes with cleft lip/palate +MONDO:0016051 cleft lip-retinopathy syndrome MONDO:0034953 Orphanet:1995 Orphanet:519325 obsolete syndromic inherited retinal disorder +MONDO:0016051 cleft lip-retinopathy syndrome MONDO:0043008 Orphanet:1995 Orphanet:330206 obsolete genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability +MONDO:0016051 cleft lip-retinopathy syndrome MONDO:8000032 Orphanet:1995 Orphanet:377789 obsolete malformation syndrome +MONDO:0016052 atypical autism MONDO:0015680 Orphanet:199627 Orphanet:168778 obsolete rare pervasive developmental disorder +MONDO:0016053 isolated cerebellar vermis hypoplasia MONDO:0020130 Orphanet:199630 Orphanet:98514 obsolete malformation of the cerebellar vermis +MONDO:0016053 isolated cerebellar vermis hypoplasia MONDO:8000030 Orphanet:199630 Orphanet:377791 obsolete morphological anomaly +MONDO:0016054 obsolete cerebral malformation MONDO:0015219 Orphanet:199633 Orphanet:108989 obsolete non-syndromic central nervous system malformation +MONDO:0016055 obsolete syndrome with corpus callosum agenesis /dysgenesis as a major feature MONDO:0015220 Orphanet:199639 Orphanet:108991 obsolete syndrome with a central nervous system malformation as major feature +MONDO:0016056 isolated congenital microcephaly MONDO:0016054 Orphanet:199642 Orphanet:199633 obsolete cerebral malformation +MONDO:0016056 isolated congenital microcephaly MONDO:8000032 Orphanet:199642 Orphanet:377789 obsolete malformation syndrome +MONDO:0016057 isolated encephalocele MONDO:8000030 Orphanet:199647 Orphanet:377791 obsolete morphological anomaly +MONDO:0016058 paroxysmal dystonia MONDO:0017657 Orphanet:200037 Orphanet:306768 obsolete rare paroxysmal movement disorder +MONDO:0016059 cleft lip/palate-deafness-sacral lipoma syndrome MONDO:0015335 Orphanet:2003 Orphanet:139039 obsolete Mendelian syndromes with cleft lip/palate +MONDO:0016059 cleft lip/palate-deafness-sacral lipoma syndrome MONDO:0019589 Orphanet:2003 Orphanet:90642 obsolete syndromic genetic hearing loss +MONDO:0016059 cleft lip/palate-deafness-sacral lipoma syndrome MONDO:8000032 Orphanet:2003 Orphanet:377789 obsolete malformation syndrome +MONDO:0016060 laryngotracheoesophageal cleft MONDO:0015207 Orphanet:2004 Orphanet:108959 obsolete non-syndromic esophageal malformation +MONDO:0016060 laryngotracheoesophageal cleft MONDO:0015221 Orphanet:2004 Orphanet:108993 obsolete non-syndromic respiratory or mediastinal malformation +MONDO:0016060 laryngotracheoesophageal cleft MONDO:0015504 Orphanet:2004 Orphanet:156249 obsolete larynx anomaly +MONDO:0016060 laryngotracheoesophageal cleft MONDO:0015930 Orphanet:2004 Orphanet:182111 obsolete respiratory malformation +MONDO:0016060 laryngotracheoesophageal cleft MONDO:8000030 Orphanet:2004 Orphanet:377791 obsolete morphological anomaly +MONDO:0016061 immunodeficiency with factor H anomaly MONDO:0018727 Orphanet:200421 Orphanet:459348 obsolete immunodeficiency due to a complement regulatory deficiency +MONDO:0016062 median cleft lip/mandibule MONDO:0015412 Orphanet:2006 Orphanet:141234 obsolete median facial cleft +MONDO:0016062 median cleft lip/mandibule MONDO:8000030 Orphanet:2006 Orphanet:377791 obsolete morphological anomaly +MONDO:0016063 Cowden disease MONDO:0017128 Orphanet:201 Orphanet:271835 obsolete inherited digestive tract tumor +MONDO:0016063 Cowden disease MONDO:0017414 Orphanet:201 Orphanet:294057 obsolete rare nevus +MONDO:0016063 Cowden disease MONDO:0035645 Orphanet:201 Orphanet:589746 obsolete inherited gynecological cancer-predisposing syndrome +MONDO:0016064 cleft palate MONDO:0015475 Orphanet:2014 Orphanet:155832 obsolete rare head and neck malformation +MONDO:0016064 cleft palate MONDO:0019038 Orphanet:2014 Orphanet:68329 obsolete rare maxillo-facial surgical disease +MONDO:0016065 cleft palate-short stature-vertebral anomalies syndrome MONDO:0015335 Orphanet:2015 Orphanet:139039 obsolete Mendelian syndromes with cleft lip/palate +MONDO:0016065 cleft palate-short stature-vertebral anomalies syndrome MONDO:0035863 Orphanet:2015 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0016065 cleft palate-short stature-vertebral anomalies syndrome MONDO:8000032 Orphanet:2015 Orphanet:377789 obsolete malformation syndrome +MONDO:0016066 sternal cleft MONDO:0015879 Orphanet:2017 Orphanet:180776 obsolete non-syndromic diaphragmatic or thoracic malformation +MONDO:0016066 sternal cleft MONDO:8000030 Orphanet:2017 Orphanet:377791 obsolete morphological anomaly +MONDO:0016067 Crandall syndrome MONDO:0019282 Orphanet:202 Orphanet:79367 obsolete syndromic hair shaft abnormality +MONDO:0016068 fibrochondrogenesis MONDO:0019697 Orphanet:2021 Orphanet:93438 obsolete mesomelic and rhizo-mesomelic dysplasia +MONDO:0016068 fibrochondrogenesis MONDO:0800087 Orphanet:2021 Orphanet:93422 obsolete type 11 collagen-related bone disorder +MONDO:0016070 hereditary gingival fibromatosis MONDO:0015603 Orphanet:2024 Orphanet:164001 obsolete rare odontal or periodontal disorder +MONDO:0016070 hereditary gingival fibromatosis MONDO:0018488 Orphanet:2024 Orphanet:420755 obsolete rare genetic odontal or periodontal disorder +MONDO:0016070 hereditary gingival fibromatosis MONDO:0026190 Orphanet:2024 Orphanet:183580 obsolete genetic malformation syndrome with odontal and/or periodontal component +MONDO:0016070 hereditary gingival fibromatosis MONDO:8000032 Orphanet:2024 Orphanet:377789 obsolete malformation syndrome +MONDO:0016071 juvenile hyaline fibromatosis MONDO:0015336 Orphanet:2028 Orphanet:139042 obsolete malformation syndrome with odontal and/or periodontal component +MONDO:0016071 juvenile hyaline fibromatosis MONDO:0018798 Orphanet:2028 Orphanet:477808 obsolete other genetic dermis disorder +MONDO:0016071 juvenile hyaline fibromatosis MONDO:0019099 Orphanet:2028 Orphanet:71209 obsolete rare soft tissue tumor +MONDO:0016071 juvenile hyaline fibromatosis MONDO:0026190 Orphanet:2028 Orphanet:183580 obsolete genetic malformation syndrome with odontal and/or periodontal component +MONDO:0016071 juvenile hyaline fibromatosis MONDO:8000031 Orphanet:2028 Orphanet:557494 obsolete subtype of a disorder +MONDO:0016072 obsolete anomaly of puberty or/and menstrual cycle of genetic origin MONDO:0015980 Orphanet:202940 Orphanet:183731 obsolete rare genetic gynecological and obstetrical diseases +MONDO:0016073 syndromic microphthalmia MONDO:0020147 Orphanet:202948 Orphanet:98555 obsolete anophthalmia-microphthalmia syndrome +MONDO:0016075 filariasis MONDO:0015577 Orphanet:2034 Orphanet:163588 obsolete rare parasitic disease +MONDO:0016077 congenital aortopulmonary window MONDO:8000030 Orphanet:2037 Orphanet:377791 obsolete morphological anomaly +MONDO:0016078 congenital systemic arteriovenous fistula MONDO:8000030 Orphanet:2039 Orphanet:377791 obsolete morphological anomaly +MONDO:0016079 sporadic Creutzfeldt-Jakob disease MONDO:0017641 Orphanet:204 Orphanet:306695 obsolete miscellaneous movement disorder due to neurodegenerative disease +MONDO:0016079 sporadic Creutzfeldt-Jakob disease MONDO:0035561 Orphanet:204 Orphanet:576356 obsolete sporadic human prion disease +MONDO:0016080 congenital bronchobiliary fistula MONDO:0015116 Orphanet:2040 Orphanet:101941 obsolete rare biliary tract disease +MONDO:0016080 congenital bronchobiliary fistula MONDO:0015213 Orphanet:2040 Orphanet:108971 obsolete non-syndromic visceral malformation +MONDO:0016080 congenital bronchobiliary fistula MONDO:0015221 Orphanet:2040 Orphanet:108993 obsolete non-syndromic respiratory or mediastinal malformation +MONDO:0016080 congenital bronchobiliary fistula MONDO:0015930 Orphanet:2040 Orphanet:182111 obsolete respiratory malformation +MONDO:0016080 congenital bronchobiliary fistula MONDO:8000030 Orphanet:2040 Orphanet:377791 obsolete morphological anomaly +MONDO:0016081 coronary arterial fistulas MONDO:8000030 Orphanet:2041 Orphanet:377791 obsolete morphological anomaly +MONDO:0016083 FLOTCH syndrome MONDO:0019285 Orphanet:2045 Orphanet:79370 obsolete syndromic nail anomaly +MONDO:0016085 Cole-Carpenter syndrome MONDO:0019704 Orphanet:2050 Orphanet:93446 obsolete primary bone dysplasia with decreased bone density +MONDO:0016085 Cole-Carpenter syndrome MONDO:0020018 Orphanet:2050 Orphanet:98038 obsolete cranial malformation +MONDO:0016085 Cole-Carpenter syndrome MONDO:0026182 Orphanet:2050 Orphanet:183542 obsolete genetic cranial malformation +MONDO:0016085 Cole-Carpenter syndrome MONDO:0043008 Orphanet:2050 Orphanet:330206 obsolete genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability +MONDO:0016085 Cole-Carpenter syndrome MONDO:8000032 Orphanet:2050 Orphanet:377789 obsolete malformation syndrome +MONDO:0016087 progressive non-infectious anterior vertebral fusion MONDO:0019711 Orphanet:2062 Orphanet:93454 obsolete dysostosis with predominant vertebral and costal involvement +MONDO:0016087 progressive non-infectious anterior vertebral fusion MONDO:8000032 Orphanet:2062 Orphanet:377789 obsolete malformation syndrome +MONDO:0016088 hypoxanthine-guanine phosphoribosyltransferase deficiency MONDO:0019058 Orphanet:206428 Orphanet:68385 obsolete neurometabolic disease +MONDO:0016088 hypoxanthine-guanine phosphoribosyltransferase deficiency MONDO:0019743 Orphanet:206428 Orphanet:93593 obsolete nephropathy secondary to a storage or other metabolic disease +MONDO:0016088 hypoxanthine-guanine phosphoribosyltransferase deficiency MONDO:0035862 Orphanet:206428 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome +MONDO:0016089 infantile Krabbe disease MONDO:8000031 Orphanet:206436 Orphanet:557494 obsolete subtype of a disorder +MONDO:0016090 late-infantile/juvenile Krabbe disease MONDO:8000031 Orphanet:206443 Orphanet:557494 obsolete subtype of a disorder +MONDO:0016091 adult Krabbe disease MONDO:8000031 Orphanet:206448 Orphanet:557494 obsolete subtype of a disorder +MONDO:0016092 serous or mucinous cystadenoma of childhood MONDO:0019965 Orphanet:206470 Orphanet:97293 obsolete rare benign ovarian tumor +MONDO:0016094 vaginal germ cell malignant tumor MONDO:0015876 Orphanet:206489 Orphanet:180312 obsolete rare vulvovaginal tumor +MONDO:0016095 vaginal rhabdomyosarcoma MONDO:0015876 Orphanet:206492 Orphanet:180312 obsolete rare vulvovaginal tumor +MONDO:0016097 symptomatic form of muscular dystrophy of Duchenne and Becker in female carriers MONDO:0016899 Orphanet:206546 Orphanet:262 obsolete Duchenne and Becker muscular dystrophy +MONDO:0016100 rippling muscle disease with myasthenia gravis MONDO:0018743 Orphanet:206575 Orphanet:464764 obsolete immune-mediated acquired neuromuscular junction disease +MONDO:0016101 neurolymphomatosis MONDO:0016138 Orphanet:206586 Orphanet:207046 obsolete malignant lymphoma with peripheral neuropathy +MONDO:0016102 subacute inflammatory demyelinating polyneuropathy MONDO:0016137 Orphanet:206594 Orphanet:207038 obsolete acute and subacute inflammatory demyelinating polyneuropathy +MONDO:0016103 isolated asymptomatic elevation of creatine phosphokinase MONDO:0032011 Orphanet:206599 Orphanet:377790 obsolete biological anomaly +MONDO:0016104 obsolete infectious disease with peripheral neuropathy MONDO:0015923 Orphanet:206613 Orphanet:182086 acquired peripheral neuropathy +MONDO:0016109 obsolete autosomal recessive distal myopathy MONDO:0018949 Orphanet:206653 Orphanet:599 distal myopathy +MONDO:0016112 hereditary inclusion-body myopathy MONDO:0016110 Orphanet:206662 Orphanet:206656 obsolete non-dystrophic myopathy +MONDO:0016114 obsolete bulbospinal muscular atrophy of childhood MONDO:0016113 Orphanet:206704 Orphanet:206701 bulbospinal muscular atrophy +MONDO:0016115 obsolete bulbospinal muscular atrophy of adulthood MONDO:0016113 Orphanet:206707 Orphanet:206701 bulbospinal muscular atrophy +MONDO:0016116 obsolete generalized bulbospinal muscular atrophy MONDO:0016113 Orphanet:206710 Orphanet:206701 bulbospinal muscular atrophy +MONDO:0016117 obsolete muscular lipidosis MONDO:0020123 Orphanet:206953 Orphanet:98486 metabolic myopathy +MONDO:0016118 obsolete muscular glycogenosis MONDO:0020123 Orphanet:206959 Orphanet:98486 metabolic myopathy +MONDO:0016121 obsolete congenital myotonia MONDO:0016120 Orphanet:206973 Orphanet:206970 myotonic syndrome +MONDO:0016123 obsolete muscular tumor MONDO:0016105 Orphanet:206982 Orphanet:206638 acquired skeletal muscle disease +MONDO:0016125 obsolete infectious, fungal or parasitic myopathy MONDO:0016105 Orphanet:206988 Orphanet:206638 acquired skeletal muscle disease +MONDO:0016126 viral myositis MONDO:0016125 Orphanet:206991 Orphanet:206988 obsolete infectious, fungal or parasitic myopathy +MONDO:0016127 bacterial myositis MONDO:0016125 Orphanet:206994 Orphanet:206988 obsolete infectious, fungal or parasitic myopathy +MONDO:0016128 parasitic myositis MONDO:0016125 Orphanet:206997 Orphanet:206988 obsolete infectious, fungal or parasitic myopathy +MONDO:0016129 eosinophilic gastroenteritis MONDO:0015111 Orphanet:2070 Orphanet:101936 obsolete gastroesophageal disease +MONDO:0016130 fungal myositis MONDO:0016125 Orphanet:207000 Orphanet:206988 obsolete infectious, fungal or parasitic myopathy +MONDO:0016131 obsolete spinal muscular atrophy associated with central nervous system anomaly MONDO:0016113 Orphanet:207012 Orphanet:206701 bulbospinal muscular atrophy +MONDO:0016132 obsolete rare hereditary disease with peripheral neuropathy MONDO:0020127 Orphanet:207015 Orphanet:98497 hereditary peripheral neuropathy +MONDO:0016133 obsolete rare hereditary metabolic disease with peripheral neuropathy MONDO:0016132 Orphanet:207018 Orphanet:207015 obsolete rare hereditary disease with peripheral neuropathy +MONDO:0016134 obsolete rare hereditary systemic disease with peripheral neuropathy MONDO:0016132 Orphanet:207021 Orphanet:207015 obsolete rare hereditary disease with peripheral neuropathy +MONDO:0016135 obsolete rare hereditary neurologic disease with peripheral neuropathy MONDO:0016132 Orphanet:207025 Orphanet:207015 obsolete rare hereditary disease with peripheral neuropathy +MONDO:0016136 obsolete cerebellar ataxia with peripheral neuropathy MONDO:0016135 Orphanet:207028 Orphanet:207025 obsolete rare hereditary neurologic disease with peripheral neuropathy +MONDO:0016137 obsolete acute and subacute inflammatory demyelinating polyneuropathy MONDO:0015923 Orphanet:207038 Orphanet:182086 acquired peripheral neuropathy +MONDO:0016138 obsolete malignant lymphoma with peripheral neuropathy MONDO:0016180 Orphanet:207046 Orphanet:209016 obsolete hematological disease associated with an acquired peripheral neuropathy +MONDO:0016139 qualitative or quantitative protein defects in neuromuscular diseases MONDO:0026167 Orphanet:207049 Orphanet:183497 obsolete genetic neuromuscular disease +MONDO:0016149 obsolete qualitative or quantitative defects of merosin MONDO:0016139 Orphanet:207094 Orphanet:207049 qualitative or quantitative protein defects in neuromuscular diseases +MONDO:0016150 obsolete qualitative or quantitative defects of integrin alpha-7 MONDO:0016139 Orphanet:207098 Orphanet:207049 qualitative or quantitative protein defects in neuromuscular diseases +MONDO:0016152 obsolete qualitative or quantitative defects of calpain MONDO:0016139 Orphanet:207104 Orphanet:207049 qualitative or quantitative protein defects in neuromuscular diseases +MONDO:0016154 obsolete qualitative or quantitative defects of myotubularin MONDO:0016139 Orphanet:207110 Orphanet:207049 qualitative or quantitative protein defects in neuromuscular diseases +MONDO:0016157 obsolete qualitative or quantitative defects of fukutin MONDO:0016155 Orphanet:207122 Orphanet:207113 qualitative or quantitative defects of protein involved in O-glycosylation of alpha-dystroglycan +MONDO:0016159 Gemignani syndrome MONDO:0019589 Orphanet:2074 Orphanet:90642 obsolete syndromic genetic hearing loss +MONDO:0016159 Gemignani syndrome MONDO:8000032 Orphanet:2074 Orphanet:377789 obsolete malformation syndrome +MONDO:0016160 X-linked intellectual disability-epilepsy syndrome MONDO:0035862 Orphanet:2076 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome +MONDO:0016162 bilateral frontal polymicrogyria MONDO:8000031 Orphanet:208444 Orphanet:557494 obsolete subtype of a disorder +MONDO:0016164 herpetiform pemphigus MONDO:0018745 Orphanet:208524 Orphanet:46485 obsolete superficial pemphigus +MONDO:0016165 hereditary hypoparathyroidism MONDO:0015970 Orphanet:208593 Orphanet:183634 obsolete rare genetic parathyroid disease and phosphocalcic metabolism disorder +MONDO:0016166 hereditary hyperparathyroidism MONDO:0015970 Orphanet:208596 Orphanet:183634 obsolete rare genetic parathyroid disease and phosphocalcic metabolism disorder +MONDO:0016167 optic pathway glioma MONDO:0019833 Orphanet:2086 Orphanet:95503 obsolete pituitary hormone deficiency from tumoral origin +MONDO:0016168 cryopyrin-associated periodic syndrome MONDO:0017369 Orphanet:208650 Orphanet:290839 obsolete autoinflammatory syndrome with immune deficiency +MONDO:0016168 cryopyrin-associated periodic syndrome MONDO:0017370 Orphanet:208650 Orphanet:290842 obsolete autoinflammatory syndrome with skin involvement +MONDO:0016169 obsolete chronic acquired demyelinating polyneuropathy MONDO:0015923 Orphanet:208974 Orphanet:182086 acquired peripheral neuropathy +MONDO:0016170 obsolete chronic polyradiculoneuropathy MONDO:0016169 Orphanet:208978 Orphanet:208974 obsolete chronic acquired demyelinating polyneuropathy +MONDO:0016172 obsolete acquired sensory ganglionopathy MONDO:0015923 Orphanet:208984 Orphanet:182086 acquired peripheral neuropathy +MONDO:0016173 obsolete non-paraneoplastic sensory ganglionopathy MONDO:0000001 Orphanet:208989 Orphanet:377788 disease +MONDO:0016173 obsolete non-paraneoplastic sensory ganglionopathy MONDO:0016172 Orphanet:208989 Orphanet:208984 obsolete acquired sensory ganglionopathy +MONDO:0016174 obsolete paraneoplastic sensory ganglionopathy MONDO:0000001 Orphanet:208999 Orphanet:377788 disease +MONDO:0016174 obsolete paraneoplastic sensory ganglionopathy MONDO:0016172 Orphanet:208999 Orphanet:208984 obsolete acquired sensory ganglionopathy +MONDO:0016174 obsolete paraneoplastic sensory ganglionopathy MONDO:0018215 Orphanet:208999 Orphanet:36388 paraneoplastic neurologic syndrome +MONDO:0016175 cutis laxa MONDO:0015216 Orphanet:209 Orphanet:108979 obsolete syndromic diaphragmatic or abdominal wall malformation +MONDO:0016175 cutis laxa MONDO:0015331 Orphanet:209 Orphanet:139027 obsolete malformation syndrome with skin/mucosae involvement +MONDO:0016175 cutis laxa MONDO:0015332 Orphanet:209 Orphanet:139030 obsolete rare developmental defect with connective tissue involvement +MONDO:0016175 cutis laxa MONDO:0015880 Orphanet:209 Orphanet:180779 obsolete syndromic diaphragmatic or thoracic malformation +MONDO:0016176 axonal polyneuropathy associated with IgG/IgM/IgA monoclonal gammopathy MONDO:0016178 Orphanet:209004 Orphanet:209010 obsolete peripheral neuropathy associated with monoclonal gammopathy +MONDO:0016177 obsolete systemic inflammatory disease associated with an acquired peripheral neuropathy MONDO:0015923 Orphanet:209007 Orphanet:182086 acquired peripheral neuropathy +MONDO:0016178 obsolete peripheral neuropathy associated with monoclonal gammopathy MONDO:0015923 Orphanet:209010 Orphanet:182086 acquired peripheral neuropathy +MONDO:0016179 obsolete acquired amyloid peripheral neuropathy MONDO:0015923 Orphanet:209013 Orphanet:182086 acquired peripheral neuropathy +MONDO:0016180 obsolete hematological disease associated with an acquired peripheral neuropathy MONDO:0015923 Orphanet:209016 Orphanet:182086 acquired peripheral neuropathy +MONDO:0016181 obsolete solid tumor associated with an acquired peripheral neuropathy MONDO:0015923 Orphanet:209019 Orphanet:182086 acquired peripheral neuropathy +MONDO:0016182 obsolete qualitative or quantitative defects of protein O-mannose beta1, 2N-acetylglucosaminyltransferase MONDO:0016155 Orphanet:209024 Orphanet:207113 qualitative or quantitative defects of protein involved in O-glycosylation of alpha-dystroglycan +MONDO:0016183 obsolete qualitative or quantitative defects of protein glycosyltransferase-like MONDO:0016155 Orphanet:209027 Orphanet:207113 qualitative or quantitative defects of protein involved in O-glycosylation of alpha-dystroglycan +MONDO:0016196 obsolete qualitative or quantitative defects of emerin MONDO:0016139 Orphanet:209188 Orphanet:207049 qualitative or quantitative protein defects in neuromuscular diseases +MONDO:0016200 obsolete qualitative or quantitative defects of glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase MONDO:0016139 Orphanet:209203 Orphanet:207049 qualitative or quantitative protein defects in neuromuscular diseases +MONDO:0016201 obsolete qualitative or quantitative defects of myotilin MONDO:0016139 Orphanet:209224 Orphanet:207049 qualitative or quantitative protein defects in neuromuscular diseases +MONDO:0016201 obsolete qualitative or quantitative defects of myotilin MONDO:0018943 Orphanet:209224 Orphanet:593 myofibrillar myopathy +MONDO:0016203 hypercholesterolemia due to cholesterol 7alpha-hydroxylase deficiency MONDO:0018799 Orphanet:209902 Orphanet:477811 obsolete rare hypercholesterolemia +MONDO:0016204 idiopathic copper-associated cirrhosis MONDO:0015114 Orphanet:209919 Orphanet:101939 obsolete rare parenchymal liver disease +MONDO:0016205 IRVAN syndrome MONDO:0019110 Orphanet:209943 Orphanet:71281 obsolete rare central nervous system or retinal vascular disease +MONDO:0016208 solitary rectal ulcer syndrome MONDO:0015245 Orphanet:209964 Orphanet:117569 obsolete rare intestinal disease +MONDO:0016210 alternating hemiplegia MONDO:0019117 Orphanet:209978 Orphanet:71859 obsolete genetic nervous system disorder +MONDO:0016210 alternating hemiplegia MONDO:0020009 Orphanet:209978 Orphanet:98006 obsolete rare neurologic disease +MONDO:0016211 non-papillary transitional cell carcinoma of the bladder MONDO:0020032 Orphanet:209989 Orphanet:98058 obsolete rare urinary tract tumor +MONDO:0016213 leukonychia totalis-acanthosis-nigricans-like lesions-abnormal hair syndrome MONDO:0019285 Orphanet:210133 Orphanet:79370 obsolete syndromic nail anomaly +MONDO:0016214 pulmonary fibrosis-hepatic hyperplasia-bone marrow hypoplasia syndrome MONDO:0015114 Orphanet:210136 Orphanet:101939 obsolete rare parenchymal liver disease +MONDO:0016214 pulmonary fibrosis-hepatic hyperplasia-bone marrow hypoplasia syndrome MONDO:0017027 Orphanet:210136 Orphanet:264740 obsolete primary interstitial lung disease specific to adulthood +MONDO:0016215 spastic quadriplegic cerebral palsy MONDO:0019117 Orphanet:210141 Orphanet:71859 obsolete genetic nervous system disorder +MONDO:0016215 spastic quadriplegic cerebral palsy MONDO:0020009 Orphanet:210141 Orphanet:98006 obsolete rare neurologic disease +MONDO:0016217 mal de Debarquement MONDO:0020017 Orphanet:210272 Orphanet:98036 obsolete rare otorhinolaryngologic disease +MONDO:0016217 mal de Debarquement MONDO:0032013 Orphanet:210272 Orphanet:377792 obsolete clinical syndrome +MONDO:0016218 Guillain-Barre syndrome MONDO:0015916 Orphanet:2103 Orphanet:182064 obsolete rare neuroinflammatory or neuroimmunological disease +MONDO:0016218 Guillain-Barre syndrome MONDO:0016137 Orphanet:2103 Orphanet:207038 obsolete acute and subacute inflammatory demyelinating polyneuropathy +MONDO:0016219 dysmorphism-pectus carinatum-joint laxity syndrome MONDO:0043008 Orphanet:2104 Orphanet:330206 obsolete genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability +MONDO:0016219 dysmorphism-pectus carinatum-joint laxity syndrome MONDO:8000032 Orphanet:2104 Orphanet:377789 obsolete malformation syndrome +MONDO:0016220 congenital temporomandibular joint ankylosis MONDO:0016221 Orphanet:210576 Orphanet:210581 obsolete temporomandibular joint anomaly +MONDO:0016221 obsolete temporomandibular joint anomaly MONDO:0019038 Orphanet:210581 Orphanet:68329 obsolete rare maxillo-facial surgical disease +MONDO:0016222 spindle cell hemangioma MONDO:0016228 Orphanet:210584 Orphanet:211237 obsolete rare vascular tumor +MONDO:0016223 infantile hemangioma of rare localization MONDO:0016228 Orphanet:210589 Orphanet:211237 obsolete rare vascular tumor +MONDO:0016224 obsolete autosomal dominant proximal spinal muscular atrophy MONDO:0024257 Orphanet:211037 Orphanet:98505 hereditary motor neuron disease +MONDO:0016225 specific learning disability MONDO:0020009 Orphanet:211047 Orphanet:98006 obsolete rare neurologic disease +MONDO:0016228 obsolete rare vascular tumor MONDO:0019063 Orphanet:211237 Orphanet:68419 obsolete vascular anomaly +MONDO:0016228 obsolete rare vascular tumor MONDO:0020031 Orphanet:211237 Orphanet:98057 obsolete rare tumor +MONDO:0016229 obsolete hereditary vascular anomaly MONDO:0015960 Orphanet:211240 Orphanet:183530 obsolete rare genetic developmental defect during embryogenesis +MONDO:0016230 obsolete simple vascular malformation MONDO:0019063 Orphanet:211243 Orphanet:68419 obsolete vascular anomaly +MONDO:0016231 capillary malformation MONDO:0016230 Orphanet:211247 Orphanet:211243 obsolete simple vascular malformation +MONDO:0016232 obsolete rare venous malformation MONDO:0016230 Orphanet:211252 Orphanet:211243 obsolete simple vascular malformation +MONDO:0016233 obsolete rare lymphatic system malformation MONDO:0016230 Orphanet:211255 Orphanet:211243 obsolete simple vascular malformation +MONDO:0016234 obsolete rare arteriovenous malformation MONDO:0016230 Orphanet:211266 Orphanet:211243 obsolete simple vascular malformation +MONDO:0016235 obsolete complex vascular malformation with associated anomalies MONDO:0019063 Orphanet:211277 Orphanet:68419 obsolete vascular anomaly +MONDO:0016236 kaposiform hemangioendothelioma MONDO:0016228 Orphanet:2122 Orphanet:211237 obsolete rare vascular tumor +MONDO:0016236 kaposiform hemangioendothelioma MONDO:0019099 Orphanet:2122 Orphanet:71209 obsolete rare soft tissue tumor +MONDO:0016237 diffuse neonatal hemangiomatosis MONDO:0016228 Orphanet:2123 Orphanet:211237 obsolete rare vascular tumor +MONDO:0016237 diffuse neonatal hemangiomatosis MONDO:8000032 Orphanet:2123 Orphanet:377789 obsolete malformation syndrome +MONDO:0016240 hemimelia MONDO:0034667 Orphanet:2130 Orphanet:498457 obsolete longitudinal limb defect +MONDO:0016242 hemoglobin C disease MONDO:0034039 Orphanet:2132 Orphanet:466066 obsolete genetic hemoglobinopathy +MONDO:0016243 hemoglobin E disease MONDO:0034039 Orphanet:2133 Orphanet:466066 obsolete genetic hemoglobinopathy MONDO:0016250 obsolete rare adenocarcinoma of the breast MONDO:0000001 Orphanet:213528 Orphanet:377788 disease -MONDO:0016254 obsolete rare variants of adenocarcinoma of the corpus uteri MONDO:0000001 Orphanet:213574 Orphanet:377788 disease +MONDO:0016250 obsolete rare adenocarcinoma of the breast MONDO:0015870 Orphanet:213528 Orphanet:180257 obsolete rare malignant breast tumor +MONDO:0016252 obsolete rare uterine cancer MONDO:0020037 Orphanet:213564 Orphanet:98063 obsolete rare gynecological tumor +MONDO:0016253 obsolete rare cancer of corpus uteri MONDO:0016252 Orphanet:213569 Orphanet:213564 obsolete rare uterine cancer +MONDO:0016255 uterine corpus mixed epithelial and mesenchymal neoplasm MONDO:0016253 Orphanet:213589 Orphanet:213569 obsolete rare cancer of corpus uteri +MONDO:0016256 Hennekam syndrome MONDO:0018035 Orphanet:2136 Orphanet:331217 obsolete syndrome with combined immunodeficiency +MONDO:0016256 Hennekam syndrome MONDO:0035470 Orphanet:2136 Orphanet:568044 obsolete primary lymphedema with systemic or visceral involvement +MONDO:0016256 Hennekam syndrome MONDO:0035863 Orphanet:2136 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0016256 Hennekam syndrome MONDO:8000032 Orphanet:2136 Orphanet:377789 obsolete malformation syndrome +MONDO:0016264 autoimmune hepatitis MONDO:0015114 Orphanet:2137 Orphanet:101939 obsolete rare parenchymal liver disease +MONDO:0016266 squamous cell carcinoma of the corpus uteri MONDO:0016253 Orphanet:213716 Orphanet:213569 obsolete rare cancer of corpus uteri +MONDO:0016267 undifferentiated carcinoma of the corpus uteri MONDO:0016253 Orphanet:213721 Orphanet:213569 obsolete rare cancer of corpus uteri +MONDO:0016268 papillary carcinoma of the corpus uteri MONDO:0016253 Orphanet:213726 Orphanet:213569 obsolete rare cancer of corpus uteri +MONDO:0016269 high-grade neuroendocrine carcinoma of the corpus uteri MONDO:0015081 Orphanet:213731 Orphanet:100101 obsolete neuroendocrine tumor with other location +MONDO:0016269 high-grade neuroendocrine carcinoma of the corpus uteri MONDO:0016253 Orphanet:213731 Orphanet:213569 obsolete rare cancer of corpus uteri +MONDO:0016270 low-grade neuroendocrine tumor of the corpus uteri MONDO:0016253 Orphanet:213736 Orphanet:213569 obsolete rare cancer of corpus uteri +MONDO:0016272 transitional cell carcinoma of the corpus uteri MONDO:0016253 Orphanet:213746 Orphanet:213569 obsolete rare cancer of corpus uteri +MONDO:0016273 malignant germ cell tumor of corpus uteri MONDO:0016253 Orphanet:213751 Orphanet:213569 obsolete rare cancer of corpus uteri +MONDO:0016274 obsolete rare cancer of cervix uteri MONDO:0016252 Orphanet:213761 Orphanet:213564 obsolete rare uterine cancer +MONDO:0016276 high-grade neuroendocrine carcinoma of the cervix uteri MONDO:0015081 Orphanet:213777 Orphanet:100101 obsolete neuroendocrine tumor with other location +MONDO:0016276 high-grade neuroendocrine carcinoma of the cervix uteri MONDO:0016274 Orphanet:213777 Orphanet:213761 obsolete rare cancer of cervix uteri +MONDO:0016277 malignant mixed epithelial and mesenchymal tumor of cervix uteri MONDO:0016274 Orphanet:213782 Orphanet:213761 obsolete rare cancer of cervix uteri +MONDO:0016280 sarcoma of cervix uteri MONDO:0016274 Orphanet:213797 Orphanet:213761 obsolete rare cancer of cervix uteri +MONDO:0016281 46,XX ovotesticular disorder of sex development MONDO:0017961 Orphanet:2138 Orphanet:325055 obsolete 46,XX disorder of gonadal development +MONDO:0016281 46,XX ovotesticular disorder of sex development MONDO:0018402 Orphanet:2138 Orphanet:399877 obsolete female infertility due to gonadal dysgenesis +MONDO:0016281 46,XX ovotesticular disorder of sex development MONDO:0020038 Orphanet:2138 Orphanet:98074 obsolete gonadal dysgenesis of gynecological interest +MONDO:0016281 46,XX ovotesticular disorder of sex development MONDO:8000032 Orphanet:2138 Orphanet:377789 obsolete malformation syndrome +MONDO:0016289 malignant germ cell tumor of cervix uteri MONDO:0016274 Orphanet:213837 Orphanet:213761 obsolete rare cancer of cervix uteri +MONDO:0016290 Hernández-Aguirre Negrete syndrome MONDO:0035863 Orphanet:2139 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0016290 Hernández-Aguirre Negrete syndrome MONDO:8000032 Orphanet:2139 Orphanet:377789 obsolete malformation syndrome +MONDO:0016291 craniosynostosis, Herrmann-Opitz type MONDO:8000032 Orphanet:2145 Orphanet:377789 obsolete malformation syndrome +MONDO:0016292 nodular neuronal heterotopia MONDO:0015572 Orphanet:2149 Orphanet:163209 obsolete cerebral malformation due to abnormal neuronal migration +MONDO:0016292 nodular neuronal heterotopia MONDO:0035863 Orphanet:2149 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0016292 nodular neuronal heterotopia MONDO:8000030 Orphanet:2149 Orphanet:377791 obsolete morphological anomaly +MONDO:0016294 Hirschsprung disease-type D brachydactyly syndrome MONDO:0015184 Orphanet:2150 Orphanet:104009 obsolete rare disease involving intestinal motility +MONDO:0016294 Hirschsprung disease-type D brachydactyly syndrome MONDO:0035340 Orphanet:2150 Orphanet:557866 obsolete rare disorder with hirschsprung disease as a major feature +MONDO:0016294 Hirschsprung disease-type D brachydactyly syndrome MONDO:0043008 Orphanet:2150 Orphanet:330206 obsolete genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability +MONDO:0016294 Hirschsprung disease-type D brachydactyly syndrome MONDO:8000032 Orphanet:2150 Orphanet:377789 obsolete malformation syndrome +MONDO:0016295 neuronal ceroid lipofuscinosis MONDO:0015918 Orphanet:216 Orphanet:182070 obsolete rare neurodegenerative disease +MONDO:0016295 neuronal ceroid lipofuscinosis MONDO:0016397 Orphanet:216 Orphanet:225681 obsolete lysosomal disease with epilepsy +MONDO:0016295 neuronal ceroid lipofuscinosis MONDO:0019058 Orphanet:216 Orphanet:68385 obsolete neurometabolic disease +MONDO:0016295 neuronal ceroid lipofuscinosis MONDO:0020142 Orphanet:216 Orphanet:98543 obsolete metabolic disease with dementia +MONDO:0016296 holoprosencephaly MONDO:0015655 Orphanet:2162 Orphanet:166478 obsolete cerebral malformation with epilepsy +MONDO:0016296 holoprosencephaly MONDO:0017090 Orphanet:2162 Orphanet:268926 obsolete midline cerebral malformation +MONDO:0016296 holoprosencephaly MONDO:0019827 Orphanet:2162 Orphanet:95495 obsolete disease associated with non-acquired combined pituitary hormone deficiency +MONDO:0016296 holoprosencephaly MONDO:0035863 Orphanet:2162 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0016296 holoprosencephaly MONDO:8000032 Orphanet:2162 Orphanet:377789 obsolete malformation syndrome +MONDO:0016299 holoprosencephaly-caudal dysgenesis syndrome MONDO:0017120 Orphanet:2165 Orphanet:269531 obsolete other syndrome with a central nervous system malformation as major feature +MONDO:0016299 holoprosencephaly-caudal dysgenesis syndrome MONDO:8000032 Orphanet:2165 Orphanet:377789 obsolete malformation syndrome +MONDO:0016301 congenitally corrected transposition of the great arteries MONDO:8000030 Orphanet:216694 Orphanet:377791 obsolete morphological anomaly +MONDO:0016302 isolated congenitally uncorrected transposition of the great arteries MONDO:8000031 Orphanet:216718 Orphanet:557494 obsolete subtype of a disorder +MONDO:0016303 congenitally uncorrected transposition of the great arteries with cardiac malformation MONDO:8000031 Orphanet:216729 Orphanet:557494 obsolete subtype of a disorder +MONDO:0016304 classic pantothenate kinase-associated neurodegeneration MONDO:8000031 Orphanet:216866 Orphanet:557494 obsolete subtype of a disorder +MONDO:0016305 atypical pantothenate kinase-associated neurodegeneration MONDO:8000031 Orphanet:216873 Orphanet:557494 obsolete subtype of a disorder +MONDO:0016306 Niemann-Pick disease type C, severe perinatal form MONDO:8000031 Orphanet:216972 Orphanet:557494 obsolete subtype of a disorder +MONDO:0016307 Niemann-Pick disease type C, severe early infantile neurologic onset MONDO:8000031 Orphanet:216975 Orphanet:557494 obsolete subtype of a disorder +MONDO:0016308 Niemann-Pick disease type C, late infantile neurologic onset MONDO:8000031 Orphanet:216978 Orphanet:557494 obsolete subtype of a disorder +MONDO:0016309 Niemann-Pick disease type C, juvenile neurologic onset MONDO:8000031 Orphanet:216981 Orphanet:557494 obsolete subtype of a disorder +MONDO:0016310 Niemann-Pick disease type C, adult neurologic onset MONDO:8000031 Orphanet:216986 Orphanet:557494 obsolete subtype of a disorder +MONDO:0016311 Bockenheimer syndrome MONDO:0016232 Orphanet:217008 Orphanet:211252 obsolete rare venous malformation +MONDO:0016311 Bockenheimer syndrome MONDO:8000032 Orphanet:217008 Orphanet:377789 obsolete malformation syndrome +MONDO:0016312 5-fluorouracil poisoning MONDO:0017633 Orphanet:217064 Orphanet:306640 obsolete rare intoxication due to medical products +MONDO:0016312 5-fluorouracil poisoning MONDO:0032014 Orphanet:217064 Orphanet:377793 obsolete particular clinical situation in a disease or syndrome +MONDO:0016314 obsolete rare carcinoma of pancreas MONDO:0018520 Orphanet:217074 Orphanet:424033 obsolete rare epithelial tumor of pancreas +MONDO:0016315 mucopolysaccharidosis type 2, severe form MONDO:8000031 Orphanet:217085 Orphanet:557494 obsolete subtype of a disorder +MONDO:0016316 mucopolysaccharidosis type 2, attenuated form MONDO:8000031 Orphanet:217093 Orphanet:557494 obsolete subtype of a disorder +MONDO:0016320 obsolete rare hereditary thrombophilia MONDO:0016633 Orphanet:217454 Orphanet:248361 obsolete thrombotic disorder due to a constitutional coagulation factors defect +MONDO:0016320 obsolete rare hereditary thrombophilia MONDO:0018377 Orphanet:217454 Orphanet:399185 obsolete rare hereditary disease with avascular necrosis +MONDO:0016323 chronic respiratory distress with surfactant metabolism deficiency MONDO:0017032 Orphanet:217566 Orphanet:264930 obsolete primary interstitial lung disease in childhood and adulthood due to alveolar structure disorder +MONDO:0016323 chronic respiratory distress with surfactant metabolism deficiency MONDO:0028569 Orphanet:217566 Orphanet:264992 obsolete genetic interstitial lung disease +MONDO:0016325 obsolete glycogen storage disease with hypertrophic cardiomyopathy MONDO:0020484 Orphanet:217572 Orphanet:99739 obsolete rare familial disorder with hypertrophic cardiomyopathy +MONDO:0016326 obsolete lysosomal disease with hypertrophic cardiomyopathy MONDO:0020484 Orphanet:217581 Orphanet:99739 obsolete rare familial disorder with hypertrophic cardiomyopathy +MONDO:0016327 obsolete mitochondrial disease with hypertrophic cardiomyopathy MONDO:0020484 Orphanet:217587 Orphanet:99739 obsolete rare familial disorder with hypertrophic cardiomyopathy +MONDO:0016328 obsolete fatty acid oxidation and ketogenesis disorder with hypertrophic cardiomyopathy MONDO:0020484 Orphanet:217591 Orphanet:99739 obsolete rare familial disorder with hypertrophic cardiomyopathy +MONDO:0016331 infantile systemic hyalinosis MONDO:0015331 Orphanet:2176 Orphanet:139027 obsolete malformation syndrome with skin/mucosae involvement +MONDO:0016331 infantile systemic hyalinosis MONDO:8000031 Orphanet:2176 Orphanet:557494 obsolete subtype of a disorder +MONDO:0016333 familial dilated cardiomyopathy MONDO:0020029 Orphanet:217607 Orphanet:98054 obsolete rare genetic cardiac disease +MONDO:0016334 obsolete neuromuscular disease with dilated cardiomyopathy MONDO:0016333 Orphanet:217610 Orphanet:217607 familial dilated cardiomyopathy +MONDO:0016335 obsolete mitochondrial disease with dilated cardiomyopathy MONDO:0016333 Orphanet:217613 Orphanet:217607 familial dilated cardiomyopathy +MONDO:0016336 obsolete fatty acid oxidation and ketogenesis disorder with dilated cardiomyopathy MONDO:0016333 Orphanet:217616 Orphanet:217607 familial dilated cardiomyopathy +MONDO:0016337 obsolete syndrome associated with dilated cardiomyopathy MONDO:0016333 Orphanet:217619 Orphanet:217607 familial dilated cardiomyopathy +MONDO:0016340 familial restrictive cardiomyopathy MONDO:0020029 Orphanet:217635 Orphanet:98054 obsolete rare genetic cardiac disease +MONDO:0016341 obsolete lysosomal disease with restrictive cardiomyopathy MONDO:0016340 Orphanet:217638 Orphanet:217635 familial restrictive cardiomyopathy +MONDO:0016342 familial isolated arrhythmogenic right ventricular dysplasia MONDO:0029810 Orphanet:217656 Orphanet:300755 obsolete laminopathy with striated muscle involvement +MONDO:0016343 obsolete unclassified cardiomyopathy MONDO:0004994 Orphanet:217678 Orphanet:167848 cardiomyopathy +MONDO:0016344 hydranencephaly MONDO:8000032 Orphanet:2177 Orphanet:377789 obsolete malformation syndrome +MONDO:0016346 hydrocephalus-obesity-hypogonadism syndrome MONDO:0015329 Orphanet:2183 Orphanet:139021 obsolete malformation syndrome with short stature +MONDO:0016346 hydrocephalus-obesity-hypogonadism syndrome MONDO:0015906 Orphanet:2183 Orphanet:181441 obsolete rare disorder with hypergonadotropic hypogonadism +MONDO:0016346 hydrocephalus-obesity-hypogonadism syndrome MONDO:0016565 Orphanet:2183 Orphanet:240371 obsolete syndromic genetic obesity +MONDO:0016346 hydrocephalus-obesity-hypogonadism syndrome MONDO:0026187 Orphanet:2183 Orphanet:183570 obsolete genetic malformation syndrome with short stature +MONDO:0016346 hydrocephalus-obesity-hypogonadism syndrome MONDO:8000032 Orphanet:2183 Orphanet:377789 obsolete malformation syndrome +MONDO:0016347 obsolete rare cardiac rhythm disease MONDO:0019996 Orphanet:218436 Orphanet:97929 obsolete rare cardiac disease +MONDO:0016348 obsolete non-genetic cardiac rhythm disease MONDO:0016347 Orphanet:218439 Orphanet:218436 obsolete rare cardiac rhythm disease +MONDO:0016349 congenital hydrocephalus MONDO:0015219 Orphanet:2185 Orphanet:108989 obsolete non-syndromic central nervous system malformation +MONDO:0016349 congenital hydrocephalus MONDO:8000032 Orphanet:2185 Orphanet:377789 obsolete malformation syndrome +MONDO:0016350 hydrocephalus-blue sclerae-nephropathy syndrome MONDO:0019721 Orphanet:2186 Orphanet:93547 obsolete syndromic renal or urinary tract malformation +MONDO:0016350 hydrocephalus-blue sclerae-nephropathy syndrome MONDO:8000032 Orphanet:2186 Orphanet:377789 obsolete malformation syndrome MONDO:0016352 obsolete idiopathic inherited hypercalciuria MONDO:0000001 Orphanet:2197 Orphanet:377788 disease +MONDO:0016352 obsolete idiopathic inherited hypercalciuria MONDO:0015962 Orphanet:2197 Orphanet:183592 inherited renal tubular disease +MONDO:0016352 obsolete idiopathic inherited hypercalciuria MONDO:0019744 Orphanet:2197 Orphanet:93603 obsolete rare renal tubular disease +MONDO:0016353 palmoplantar keratoderma-spastic paralysis syndrome MONDO:0017679 Orphanet:2201 Orphanet:308031 obsolete obsolete autosomal dominant disease associated with punctate palmoplantar keratoderma as a major feature +MONDO:0016354 xeroderma pigmentosum-Cockayne syndrome complex MONDO:0015331 Orphanet:220295 Orphanet:139027 obsolete malformation syndrome with skin/mucosae involvement +MONDO:0016354 xeroderma pigmentosum-Cockayne syndrome complex MONDO:0015945 Orphanet:220295 Orphanet:183422 obsolete polymalformative genetic syndrome with increased risk of developing cancer +MONDO:0016354 xeroderma pigmentosum-Cockayne syndrome complex MONDO:0019304 Orphanet:220295 Orphanet:79390 obsolete rare photodermatosis +MONDO:0016354 xeroderma pigmentosum-Cockayne syndrome complex MONDO:0019589 Orphanet:220295 Orphanet:90642 obsolete syndromic genetic hearing loss +MONDO:0016354 xeroderma pigmentosum-Cockayne syndrome complex MONDO:0020045 Orphanet:220295 Orphanet:98097 obsolete autosomal recessive cerebellar ataxia due to a DNA repair defect +MONDO:0016354 xeroderma pigmentosum-Cockayne syndrome complex MONDO:0020162 Orphanet:220295 Orphanet:98571 obsolete secondary ectropion +MONDO:0016354 xeroderma pigmentosum-Cockayne syndrome complex MONDO:0020240 Orphanet:220295 Orphanet:98661 obsolete syndromic retinitis pigmentosa +MONDO:0016354 xeroderma pigmentosum-Cockayne syndrome complex MONDO:0031689 Orphanet:220295 Orphanet:363245 obsolete genetic progeroid syndrome +MONDO:0016354 xeroderma pigmentosum-Cockayne syndrome complex MONDO:0034926 Orphanet:220295 Orphanet:519270 obsolete rare disorder with entropion +MONDO:0016354 xeroderma pigmentosum-Cockayne syndrome complex MONDO:0035862 Orphanet:220295 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome +MONDO:0016355 obsolete semilobar holoprosencephaly MONDO:0016296 Orphanet:220386 Orphanet:2162 holoprosencephaly +MONDO:0016355 obsolete semilobar holoprosencephaly MONDO:8000031 Orphanet:220386 Orphanet:557494 obsolete subtype of a disorder +MONDO:0016356 diffuse cutaneous systemic sclerosis MONDO:8000031 Orphanet:220393 Orphanet:557494 obsolete subtype of a disorder +MONDO:0016357 dysplastic cortical hyperostosis MONDO:0800084 Orphanet:646139 Orphanet:93444 obsolete primary bone dysplasia with increased bone density +MONDO:0016357 dysplastic cortical hyperostosis MONDO:8000032 Orphanet:646139 Orphanet:377789 obsolete malformation syndrome +MONDO:0016358 limited cutaneous systemic sclerosis MONDO:8000031 Orphanet:220402 Orphanet:557494 obsolete subtype of a disorder +MONDO:0016359 limited systemic sclerosis MONDO:8000031 Orphanet:220407 Orphanet:557494 obsolete subtype of a disorder +MONDO:0016361 obsolete isolated hereditary giant platelet disorder MONDO:0018796 Orphanet:220452 Orphanet:477797 obsolete isolated constitutional thrombocytopenia +MONDO:0016362 attenuated familial adenomatous polyposis MONDO:0017128 Orphanet:220460 Orphanet:271835 obsolete inherited digestive tract tumor +MONDO:0016362 attenuated familial adenomatous polyposis MONDO:0018188 Orphanet:220460 Orphanet:363314 obsolete hereditary intestinal polyposis +MONDO:0016363 obsolete rare hereditary hemochromatosis MONDO:0015115 Orphanet:220489 Orphanet:101940 obsolete rare genetic metabolic liver disease +MONDO:0016363 obsolete rare hereditary hemochromatosis MONDO:0017763 Orphanet:220489 Orphanet:309842 disorder of iron metabolism and transport +MONDO:0016364 Joubert syndrome with ocular defect MONDO:0017118 Orphanet:220493 Orphanet:269523 obsolete syndrome with a cerebellar malformation as major feature +MONDO:0016364 Joubert syndrome with ocular defect MONDO:0034953 Orphanet:220493 Orphanet:519325 obsolete syndromic inherited retinal disorder +MONDO:0016364 Joubert syndrome with ocular defect MONDO:0035863 Orphanet:220493 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0016364 Joubert syndrome with ocular defect MONDO:8000032 Orphanet:220493 Orphanet:377789 obsolete malformation syndrome +MONDO:0016365 familial primary hyperparathyroidism MONDO:0015076 Orphanet:2207 Orphanet:100090 obsolete rare parathyroid tumor +MONDO:0016365 familial primary hyperparathyroidism MONDO:0015897 Orphanet:2207 Orphanet:181408 obsolete rare hyperparathyroidism +MONDO:0016366 maternal phenylketonuria MONDO:0015323 Orphanet:2209 Orphanet:138059 obsolete teratogenic Pierre Robin syndrome +MONDO:0016366 maternal phenylketonuria MONDO:0016678 Orphanet:2209 Orphanet:251535 obsolete maternal disease-related embryofetopathy +MONDO:0016366 maternal phenylketonuria MONDO:0035863 Orphanet:2209 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0016366 maternal phenylketonuria MONDO:8000032 Orphanet:2209 Orphanet:377789 obsolete malformation syndrome +MONDO:0016367 dermatomyositis MONDO:0017368 Orphanet:221 Orphanet:290836 obsolete systemic disease with skin involvement +MONDO:0016368 Rothmund-Thomson syndrome type 1 MONDO:8000031 Orphanet:221008 Orphanet:557494 obsolete subtype of a disorder +MONDO:0016369 Rothmund-Thomson syndrome type 2 MONDO:0015945 Orphanet:221016 Orphanet:183422 obsolete polymalformative genetic syndrome with increased risk of developing cancer +MONDO:0016369 Rothmund-Thomson syndrome type 2 MONDO:8000031 Orphanet:221016 Orphanet:557494 obsolete subtype of a disorder +MONDO:0016370 Marchiafava-Bignami disease MONDO:0015918 Orphanet:221074 Orphanet:182070 obsolete rare neurodegenerative disease +MONDO:0016375 obsolete acquired peripheral movement disorder MONDO:0015923 Orphanet:221114 Orphanet:182086 acquired peripheral neuropathy +MONDO:0016376 confetti-like macular atrophy MONDO:0016435 Orphanet:221142 Orphanet:228221 obsolete acquired dermis elastic tissue disorder with decreased elastic tissue +MONDO:0016378 maternal hyperthermia induced birth defects MONDO:0015323 Orphanet:2216 Orphanet:138059 obsolete teratogenic Pierre Robin syndrome +MONDO:0016378 maternal hyperthermia induced birth defects MONDO:0016678 Orphanet:2216 Orphanet:251535 obsolete maternal disease-related embryofetopathy +MONDO:0016378 maternal hyperthermia induced birth defects MONDO:8000032 Orphanet:2216 Orphanet:377789 obsolete malformation syndrome +MONDO:0016379 erosive pustular dermatosis of the scalp MONDO:0019546 Orphanet:222 Orphanet:90077 obsolete other acquired skin disease +MONDO:0016382 hereditary poikiloderma MONDO:0015946 Orphanet:222628 Orphanet:183426 obsolete rare genetic epidermal disorder +MONDO:0016383 nephrogenic diabetes insipidus MONDO:0019744 Orphanet:223 Orphanet:93603 obsolete rare renal tubular disease +MONDO:0016384 hypogonadotropic hypogonadism-frontoparietal alopecia syndrome MONDO:0015890 Orphanet:2230 Orphanet:181387 obsolete rare disorder with congenital hypogonadotropic hypogonadism +MONDO:0016385 hypogonadism-mitral valve prolapse-intellectual disability syndrome MONDO:0015906 Orphanet:2233 Orphanet:181441 obsolete rare disorder with hypergonadotropic hypogonadism +MONDO:0016385 hypogonadism-mitral valve prolapse-intellectual disability syndrome MONDO:0035863 Orphanet:2233 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0016386 hypogonadotropic hypogonadism-retinitis pigmentosa syndrome MONDO:0015890 Orphanet:2235 Orphanet:181387 obsolete rare disorder with congenital hypogonadotropic hypogonadism +MONDO:0016386 hypogonadotropic hypogonadism-retinitis pigmentosa syndrome MONDO:0020240 Orphanet:2235 Orphanet:98661 obsolete syndromic retinitis pigmentosa +MONDO:0016390 familial hypoparathyroidism MONDO:0015896 Orphanet:2238 Orphanet:181405 obsolete rare hypoparathyroidism +MONDO:0016390 familial hypoparathyroidism MONDO:0020225 Orphanet:2238 Orphanet:98641 obsolete syndromic cataract +MONDO:0016391 neonatal diabetes mellitus MONDO:0015122 Orphanet:224 Orphanet:101952 obsolete rare diabetes mellitus +MONDO:0016392 cerebellar hypoplasia-tapetoretinal degeneration syndrome MONDO:0017118 Orphanet:2246 Orphanet:269523 obsolete syndrome with a cerebellar malformation as major feature +MONDO:0016392 cerebellar hypoplasia-tapetoretinal degeneration syndrome MONDO:0034953 Orphanet:2246 Orphanet:519325 obsolete syndromic inherited retinal disorder +MONDO:0016392 cerebellar hypoplasia-tapetoretinal degeneration syndrome MONDO:8000032 Orphanet:2246 Orphanet:377789 obsolete malformation syndrome +MONDO:0016393 hyposmia-nasal and ocular hypoplasia-hypogonadotropic hypogonadism syndrome MONDO:0015890 Orphanet:2250 Orphanet:181387 obsolete rare disorder with congenital hypogonadotropic hypogonadism +MONDO:0016393 hyposmia-nasal and ocular hypoplasia-hypogonadotropic hypogonadism syndrome MONDO:0020225 Orphanet:2250 Orphanet:98641 obsolete syndromic cataract +MONDO:0016395 foveal hypoplasia-presenile cataract syndrome MONDO:0020225 Orphanet:2253 Orphanet:98641 obsolete syndromic cataract +MONDO:0016396 pontocerebellar hypoplasia type 1 MONDO:0016131 Orphanet:2254 Orphanet:207012 obsolete spinal muscular atrophy associated with central nervous system anomaly +MONDO:0016396 pontocerebellar hypoplasia type 1 MONDO:8000032 Orphanet:2254 Orphanet:377789 obsolete malformation syndrome +MONDO:0016397 obsolete lysosomal disease with epilepsy MONDO:0015656 Orphanet:225681 Orphanet:166481 obsolete metabolic disease with epilepsy +MONDO:0016398 obsolete peroxisomal disease with epilepsy MONDO:0015656 Orphanet:225686 Orphanet:166481 obsolete metabolic disease with epilepsy +MONDO:0016399 obsolete amino acid or protein metabolism disease with epilepsy MONDO:0015656 Orphanet:225689 Orphanet:166481 obsolete metabolic disease with epilepsy +MONDO:0016400 obsolete metal transport or utilization disorder with epilepsy MONDO:0015656 Orphanet:225692 Orphanet:166481 obsolete metabolic disease with epilepsy +MONDO:0016401 obsolete energy metabolism disorder with epilepsy MONDO:0015656 Orphanet:225696 Orphanet:166481 obsolete metabolic disease with epilepsy +MONDO:0016402 obsolete mitochondrial disease with epilepsy MONDO:0016401 Orphanet:225700 Orphanet:225696 obsolete energy metabolism disorder with epilepsy +MONDO:0016403 obsolete mitochondrial disease with peripheral neuropathy MONDO:0016133 Orphanet:225703 Orphanet:207018 obsolete rare hereditary metabolic disease with peripheral neuropathy +MONDO:0016404 obsolete metabolic neurotransmission anomaly with epilepsy MONDO:0015656 Orphanet:225707 Orphanet:166481 obsolete metabolic disease with epilepsy +MONDO:0016405 obsolete sterol metabolism disorder with epilepsy MONDO:0015656 Orphanet:225710 Orphanet:166481 obsolete metabolic disease with epilepsy +MONDO:0016406 obsolete other metabolic disease with epilepsy MONDO:0015656 Orphanet:225713 Orphanet:166481 obsolete metabolic disease with epilepsy +MONDO:0016407 oligomeganephronia MONDO:0019720 Orphanet:2260 Orphanet:93546 obsolete non-syndromic renal or urinary tract malformation +MONDO:0016407 oligomeganephronia MONDO:8000030 Orphanet:2260 Orphanet:377791 obsolete morphological anomaly +MONDO:0016409 obsolete primary congenital hypothyroidism MONDO:0016408 Orphanet:226295 Orphanet:226292 permanent congenital hypothyroidism +MONDO:0016414 hypotrichosis-intellectual disability, Lopes type MONDO:0035863 Orphanet:2266 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0016416 diphallia MONDO:0015933 Orphanet:227 Orphanet:182121 obsolete non-syndromic urogenital tract malformation of male +MONDO:0016416 diphallia MONDO:8000030 Orphanet:227 Orphanet:377791 obsolete morphological anomaly +MONDO:0016417 congenital ichthyosis-microcephalus-tetraplegia syndrome MONDO:0017272 Orphanet:2271 Orphanet:281238 obsolete autosomal ichthyosis syndrome with prominent neurologics signs +MONDO:0016418 multiple system atrophy, cerebellar type MONDO:0016592 Orphanet:227510 Orphanet:247239 obsolete non-hereditary degenerative ataxia +MONDO:0016418 multiple system atrophy, cerebellar type MONDO:8000031 Orphanet:227510 Orphanet:557494 obsolete subtype of a disorder +MONDO:0016419 hereditary breast carcinoma MONDO:0015870 Orphanet:227535 Orphanet:180257 obsolete rare malignant breast tumor +MONDO:0016419 hereditary breast carcinoma MONDO:0015981 Orphanet:227535 Orphanet:183734 obsolete inherited gynecological tumor +MONDO:0016421 toxic oil syndrome MONDO:0035328 Orphanet:227972 Orphanet:556508 obsolete rare disorder due to poisoning +MONDO:0016422 autoimmune polyendocrinopathy type 3 MONDO:0015777 Orphanet:227982 Orphanet:177101 obsolete adult hypothyroidism +MONDO:0016422 autoimmune polyendocrinopathy type 3 MONDO:0015886 Orphanet:227982 Orphanet:181371 obsolete rare diabetes mellitus type 1 +MONDO:0016424 progressive sensorineural hearing loss-hypertrophic cardiomyopathy syndrome MONDO:0015110 Orphanet:228012 Orphanet:101934 obsolete genetic cardiac rhythm disease +MONDO:0016424 progressive sensorineural hearing loss-hypertrophic cardiomyopathy syndrome MONDO:0019589 Orphanet:228012 Orphanet:90642 obsolete syndromic genetic hearing loss +MONDO:0016424 progressive sensorineural hearing loss-hypertrophic cardiomyopathy syndrome MONDO:0026989 Orphanet:228012 Orphanet:217595 obsolete syndrome associated with hypertrophic cardiomyopathy +MONDO:0016425 Hughes-Stovin syndrome MONDO:0015488 Orphanet:228116 Orphanet:156140 obsolete predominantly large-vessel vasculitis +MONDO:0016426 fusariosis MONDO:0015578 Orphanet:228119 Orphanet:163591 obsolete rare mycosis +MONDO:0016428 obsolete multiple sclerosis variant MONDO:0015916 Orphanet:228145 Orphanet:182064 obsolete rare neuroinflammatory or neuroimmunological disease +MONDO:0016429 Marburg acute multiple sclerosis MONDO:0016428 Orphanet:228157 Orphanet:228145 obsolete multiple sclerosis variant +MONDO:0016430 Balo concentric sclerosis MONDO:0016428 Orphanet:228165 Orphanet:228145 obsolete multiple sclerosis variant +MONDO:0016432 heart-hand syndrome MONDO:0015226 Orphanet:228184 Orphanet:109009 obsolete syndrome with limb malformations as a major feature +MONDO:0016432 heart-hand syndrome MONDO:0018235 Orphanet:228184 Orphanet:364568 obsolete dysostosis with limb anomaly as a major feature +MONDO:0016432 heart-hand syndrome MONDO:0018455 Orphanet:228184 Orphanet:404571 obsolete dysostosis of genetic origin with limb anomaly as a major feature +MONDO:0016433 dysmorphism-short stature-deafness-disorder of sex development syndrome MONDO:0017978 Orphanet:2282 Orphanet:325638 obsolete syndrome with disorder of sex development of gynecological interest +MONDO:0016433 dysmorphism-short stature-deafness-disorder of sex development syndrome MONDO:0020042 Orphanet:2282 Orphanet:98087 obsolete syndrome with 46,XY disorder of sex development +MONDO:0016433 dysmorphism-short stature-deafness-disorder of sex development syndrome MONDO:0035863 Orphanet:2282 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0016433 dysmorphism-short stature-deafness-disorder of sex development syndrome MONDO:8000032 Orphanet:2282 Orphanet:377789 obsolete malformation syndrome +MONDO:0016434 obsolete acquired dermis elastic tissue disorder MONDO:0019292 Orphanet:228218 Orphanet:79378 obsolete dermis elastic tissue disorder +MONDO:0016435 obsolete acquired dermis elastic tissue disorder with decreased elastic tissue MONDO:0016434 Orphanet:228221 Orphanet:228218 obsolete acquired dermis elastic tissue disorder +MONDO:0016436 obsolete acquired dermis elastic tissue disorder with increased elastic tissue MONDO:0016434 Orphanet:228224 Orphanet:228218 obsolete acquired dermis elastic tissue disorder +MONDO:0016437 late-onset focal dermal elastosis MONDO:0016436 Orphanet:228227 Orphanet:228224 obsolete acquired dermis elastic tissue disorder with increased elastic tissue +MONDO:0016438 linear focal dermal elastosis MONDO:0016436 Orphanet:228236 Orphanet:228224 obsolete acquired dermis elastic tissue disorder with increased elastic tissue +MONDO:0016439 elastoderma MONDO:0016436 Orphanet:228240 Orphanet:228224 obsolete acquired dermis elastic tissue disorder with increased elastic tissue +MONDO:0016440 elastofibroma dorsi MONDO:0016436 Orphanet:228243 Orphanet:228224 obsolete acquired dermis elastic tissue disorder with increased elastic tissue +MONDO:0016441 acquired pseudoxanthoma elasticum MONDO:0016436 Orphanet:228247 Orphanet:228224 obsolete acquired dermis elastic tissue disorder with increased elastic tissue +MONDO:0016442 elastoma MONDO:0016436 Orphanet:228254 Orphanet:228224 obsolete acquired dermis elastic tissue disorder with increased elastic tissue +MONDO:0016443 papular elastorrhexis MONDO:0016435 Orphanet:228264 Orphanet:228221 obsolete acquired dermis elastic tissue disorder with decreased elastic tissue +MONDO:0016444 primary anetoderma MONDO:0016435 Orphanet:228272 Orphanet:228221 obsolete acquired dermis elastic tissue disorder with decreased elastic tissue +MONDO:0016446 acquired cutis laxa MONDO:0016435 Orphanet:228285 Orphanet:228221 obsolete acquired dermis elastic tissue disorder with decreased elastic tissue +MONDO:0016447 white fibrous papulosis of the neck MONDO:0016435 Orphanet:228290 Orphanet:228221 obsolete acquired dermis elastic tissue disorder with decreased elastic tissue +MONDO:0016448 pseudoxanthoma elasticum-like papillary dermal elastolysis MONDO:0016435 Orphanet:228293 Orphanet:228221 obsolete acquired dermis elastic tissue disorder with decreased elastic tissue +MONDO:0016449 mid-dermal elastolysis MONDO:0016435 Orphanet:228299 Orphanet:228221 obsolete acquired dermis elastic tissue disorder with decreased elastic tissue +MONDO:0016453 foodborne botulism MONDO:8000031 Orphanet:228371 Orphanet:557494 obsolete subtype of a disorder +MONDO:0016454 Charcot-Marie-Tooth disease type 2B5 MONDO:0019601 Orphanet:228374 Orphanet:91024 obsolete autosomal recessive axonal hereditary motor and sensory neuropathy +MONDO:0016455 virus-associated trichodysplasia spinulosa MONDO:0015576 Orphanet:228379 Orphanet:163585 obsolete rare viral disease +MONDO:0016455 virus-associated trichodysplasia spinulosa MONDO:0019546 Orphanet:228379 Orphanet:90077 obsolete other acquired skin disease +MONDO:0016456 5q14.3 microdeletion syndrome MONDO:0015652 Orphanet:228384 Orphanet:166469 obsolete chromosomal anomaly with epilepsy as a major feature +MONDO:0016456 5q14.3 microdeletion syndrome MONDO:0035863 Orphanet:228384 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0016456 5q14.3 microdeletion syndrome MONDO:8000032 Orphanet:228384 Orphanet:377789 obsolete malformation syndrome +MONDO:0016457 ptosis-upper ocular movement limitation-absence of lacrimal punctum syndrome MONDO:0020169 Orphanet:228396 Orphanet:98578 obsolete rare disorder with ptosis +MONDO:0016457 ptosis-upper ocular movement limitation-absence of lacrimal punctum syndrome MONDO:8000032 Orphanet:228396 Orphanet:377789 obsolete malformation syndrome +MONDO:0016458 8q12 microduplication syndrome MONDO:0020253 Orphanet:228399 Orphanet:98683 obsolete syndrome with a symptomatic strabismus +MONDO:0016458 8q12 microduplication syndrome MONDO:8000032 Orphanet:228399 Orphanet:377789 obsolete malformation syndrome +MONDO:0016459 2q23.1 microdeletion syndrome MONDO:0015652 Orphanet:228402 Orphanet:166469 obsolete chromosomal anomaly with epilepsy as a major feature +MONDO:0016459 2q23.1 microdeletion syndrome MONDO:0035863 Orphanet:228402 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0016459 2q23.1 microdeletion syndrome MONDO:8000032 Orphanet:228402 Orphanet:377789 obsolete malformation syndrome +MONDO:0016460 polyvalvular heart disease syndrome MONDO:0015332 Orphanet:228410 Orphanet:139030 obsolete rare developmental defect with connective tissue involvement +MONDO:0016460 polyvalvular heart disease syndrome MONDO:0015506 Orphanet:228410 Orphanet:156532 obsolete rare syndrome with cardiac malformations +MONDO:0016460 polyvalvular heart disease syndrome MONDO:0035863 Orphanet:228410 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0016460 polyvalvular heart disease syndrome MONDO:8000032 Orphanet:228410 Orphanet:377789 obsolete malformation syndrome +MONDO:0016461 5q35 microduplication syndrome MONDO:8000032 Orphanet:228415 Orphanet:377789 obsolete malformation syndrome +MONDO:0016464 insulin-resistance syndrome type B MONDO:0015885 Orphanet:2298 Orphanet:181368 obsolete rare insulin-resistance syndrome +MONDO:0016467 isotretinoin syndrome MONDO:0015323 Orphanet:2305 Orphanet:138059 obsolete teratogenic Pierre Robin syndrome +MONDO:0016467 isotretinoin syndrome MONDO:8000032 Orphanet:2305 Orphanet:377789 obsolete malformation syndrome +MONDO:0016468 toxin-mediated infectious botulism MONDO:8000031 Orphanet:230800 Orphanet:557494 obsolete subtype of a disorder +MONDO:0016470 Ehlers-Danlos/osteogenesis imperfecta syndrome MONDO:0015331 Orphanet:230857 Orphanet:139027 obsolete malformation syndrome with skin/mucosae involvement +MONDO:0016470 Ehlers-Danlos/osteogenesis imperfecta syndrome MONDO:0015332 Orphanet:230857 Orphanet:139030 obsolete rare developmental defect with connective tissue involvement +MONDO:0016470 Ehlers-Danlos/osteogenesis imperfecta syndrome MONDO:0019704 Orphanet:230857 Orphanet:93446 obsolete primary bone dysplasia with decreased bone density +MONDO:0016471 pachyonychia congenita MONDO:0015331 Orphanet:2309 Orphanet:139027 obsolete malformation syndrome with skin/mucosae involvement +MONDO:0016471 pachyonychia congenita MONDO:0019285 Orphanet:2309 Orphanet:79370 obsolete syndromic nail anomaly +MONDO:0016471 pachyonychia congenita MONDO:0020095 Orphanet:2309 Orphanet:98353 obsolete autosomal dominant disease associated with focal palmoplantar keratoderma as a major feature +MONDO:0016474 drug-induced lupus erythematosus MONDO:0017368 Orphanet:231111 Orphanet:290836 obsolete systemic disease with skin involvement +MONDO:0016475 Beckwith-Wiedemann syndrome due to imprinting defect of 11p15 MONDO:8000031 Orphanet:231117 Orphanet:557494 obsolete subtype of a disorder +MONDO:0016476 Beckwith-Wiedemann syndrome due to CDKN1C mutation MONDO:8000031 Orphanet:231120 Orphanet:557494 obsolete subtype of a disorder +MONDO:0016477 Beckwith-Wiedemann syndrome due to 11p15 microdeletion MONDO:8000031 Orphanet:231127 Orphanet:557494 obsolete subtype of a disorder +MONDO:0016478 Beckwith-Wiedemann syndrome due to 11p15 translocation/inversion MONDO:0016998 Orphanet:231130 Orphanet:263708 obsolete complex chromosomal rearrangement +MONDO:0016478 Beckwith-Wiedemann syndrome due to 11p15 translocation/inversion MONDO:8000031 Orphanet:231130 Orphanet:557494 obsolete subtype of a disorder +MONDO:0016479 silver-Russell syndrome due to 7p11.2p13 microduplication MONDO:8000031 Orphanet:231137 Orphanet:557494 obsolete subtype of a disorder +MONDO:0016480 silver-Russell syndrome due to an imprinting defect of 11p15 MONDO:8000031 Orphanet:231140 Orphanet:557494 obsolete subtype of a disorder +MONDO:0016481 silver-Russell syndrome due to 11p15 microduplication MONDO:8000031 Orphanet:231144 Orphanet:557494 obsolete subtype of a disorder +MONDO:0016482 silver-Russell syndrome due to maternal uniparental disomy of chromosome 11 MONDO:0020056 Orphanet:231147 Orphanet:98153 obsolete uniparental disomy of maternal origin +MONDO:0016482 silver-Russell syndrome due to maternal uniparental disomy of chromosome 11 MONDO:8000031 Orphanet:231147 Orphanet:557494 obsolete subtype of a disorder +MONDO:0016483 intracranial berry aneurysm MONDO:0015145 Orphanet:231160 Orphanet:102006 obsolete neurovascular malformation +MONDO:0016483 intracranial berry aneurysm MONDO:0031949 Orphanet:231160 Orphanet:371436 obsolete genetic neurovascular malformation +MONDO:0016484 Usher syndrome type 2 MONDO:8000031 Orphanet:231178 Orphanet:557494 obsolete subtype of a disorder +MONDO:0016485 Usher syndrome type 3 MONDO:8000031 Orphanet:231183 Orphanet:557494 obsolete subtype of a disorder +MONDO:0016486 beta-thalassemia major MONDO:8000031 Orphanet:231214 Orphanet:557494 obsolete subtype of a disorder +MONDO:0016487 beta-thalassemia intermedia MONDO:8000031 Orphanet:231222 Orphanet:557494 obsolete subtype of a disorder +MONDO:0016488 obsolete beta-thalassemia associated with another hemoglobin anomaly MONDO:0017145 Orphanet:231230 Orphanet:275749 beta-thalassemia and related diseases +MONDO:0016489 delta-beta-thalassemia MONDO:0016488 Orphanet:231237 Orphanet:231230 obsolete beta-thalassemia associated with another hemoglobin anomaly +MONDO:0016490 hemoglobin C-beta-thalassemia syndrome MONDO:0016488 Orphanet:231242 Orphanet:231230 obsolete beta-thalassemia associated with another hemoglobin anomaly +MONDO:0016491 hemoglobin E-beta-thalassemia syndrome MONDO:0016488 Orphanet:231249 Orphanet:231230 obsolete beta-thalassemia associated with another hemoglobin anomaly +MONDO:0016492 obsolete beta-thalassemia with other manifestations MONDO:0017145 Orphanet:231386 Orphanet:275749 beta-thalassemia and related diseases +MONDO:0016493 obsolete variant of Guillain-Barre syndrome MONDO:0016218 Orphanet:231413 Orphanet:2103 Guillain-Barre syndrome +MONDO:0016494 obsolete regional variant of Guillain-Barre syndrome MONDO:0016493 Orphanet:231416 Orphanet:231413 obsolete variant of Guillain-Barre syndrome +MONDO:0016495 obsolete functional variant of Guillain-Barre syndrome MONDO:0016493 Orphanet:231419 Orphanet:231413 obsolete variant of Guillain-Barre syndrome +MONDO:0016496 pharyngeal-cervical-brachial variant of Guillain-Barre syndrome MONDO:0016494 Orphanet:231426 Orphanet:231416 obsolete regional variant of Guillain-Barre syndrome +MONDO:0016497 paraparetic variant of Guillain-Barre syndrome MONDO:0016495 Orphanet:231445 Orphanet:231419 obsolete functional variant of Guillain-Barre syndrome +MONDO:0016498 acute pure sensory neuropathy MONDO:0016495 Orphanet:231450 Orphanet:231419 obsolete functional variant of Guillain-Barre syndrome +MONDO:0016499 acute pandysautonomia MONDO:0016495 Orphanet:231457 Orphanet:231419 obsolete functional variant of Guillain-Barre syndrome +MONDO:0016500 acute sensory ataxic neuropathy MONDO:0016495 Orphanet:231466 Orphanet:231419 obsolete functional variant of Guillain-Barre syndrome +MONDO:0016501 Hermansky-Pudlak syndrome with pulmonary fibrosis MONDO:0017024 Orphanet:231500 Orphanet:264719 obsolete secondary interstitial lung disease specific to childhood associated with a metabolic disease +MONDO:0016501 Hermansky-Pudlak syndrome with pulmonary fibrosis MONDO:8000031 Orphanet:231500 Orphanet:557494 obsolete subtype of a disorder +MONDO:0016502 Hermansky-Pudlak syndrome without pulmonary fibrosis MONDO:8000031 Orphanet:231512 Orphanet:557494 obsolete subtype of a disorder +MONDO:0016503 congenital erosive and vesicular dermatosis MONDO:0019274 Orphanet:231573 Orphanet:79359 obsolete other epidermal disorder +MONDO:0016504 primary unilateral adrenal hyperplasia MONDO:0016507 Orphanet:231580 Orphanet:231637 obsolete rare surgically correctable form of primary aldosteronism +MONDO:0016505 aldosterone-producing adrenal cortex adenoma MONDO:0016507 Orphanet:231625 Orphanet:231637 obsolete rare surgically correctable form of primary aldosteronism +MONDO:0016506 ectopic aldosterone-producing tumor MONDO:0016508 Orphanet:231632 Orphanet:231641 obsolete rare non surgically correctable form of primary aldosteronism +MONDO:0016507 obsolete rare surgically correctable form of primary aldosteronism MONDO:0015899 Orphanet:231637 Orphanet:181415 obsolete rare primary hyperaldosteronism +MONDO:0016508 obsolete rare non surgically correctable form of primary aldosteronism MONDO:0015899 Orphanet:231641 Orphanet:181415 obsolete rare primary hyperaldosteronism +MONDO:0016509 microcornea-posterior megalolenticonus-persistent fetal vasculature-coloboma syndrome MONDO:0034937 Orphanet:231736 Orphanet:519292 obsolete syndromic ectopia lentis +MONDO:0016509 microcornea-posterior megalolenticonus-persistent fetal vasculature-coloboma syndrome MONDO:8000032 Orphanet:231736 Orphanet:377789 obsolete malformation syndrome +MONDO:0016510 epibulbar lipodermoid-preauricular appendage-polythelia syndrome MONDO:0015334 Orphanet:231742 Orphanet:139036 obsolete branchial arch or oral-acral syndrome +MONDO:0016510 epibulbar lipodermoid-preauricular appendage-polythelia syndrome MONDO:0026189 Orphanet:231742 Orphanet:183576 obsolete genetic branchial arch or oral-acral syndrome +MONDO:0016510 epibulbar lipodermoid-preauricular appendage-polythelia syndrome MONDO:8000032 Orphanet:231742 Orphanet:377789 obsolete malformation syndrome +MONDO:0016511 infectious embryofetopathy MONDO:0018880 Orphanet:232035 Orphanet:52662 obsolete rare teratologic disease +MONDO:0016511 infectious embryofetopathy MONDO:0019062 Orphanet:232035 Orphanet:68416 obsolete rare infectious disease +MONDO:0016512 Kabuki syndrome MONDO:0015216 Orphanet:2322 Orphanet:108979 obsolete syndromic diaphragmatic or abdominal wall malformation +MONDO:0016512 Kabuki syndrome MONDO:0015246 Orphanet:2322 Orphanet:117573 obsolete syndromic anorectal malformation +MONDO:0016512 Kabuki syndrome MONDO:0015329 Orphanet:2322 Orphanet:139021 obsolete malformation syndrome with short stature +MONDO:0016512 Kabuki syndrome MONDO:0015880 Orphanet:2322 Orphanet:180779 obsolete syndromic diaphragmatic or thoracic malformation +MONDO:0016512 Kabuki syndrome MONDO:0026187 Orphanet:2322 Orphanet:183570 obsolete genetic malformation syndrome with short stature +MONDO:0016512 Kabuki syndrome MONDO:0035863 Orphanet:2322 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0016512 Kabuki syndrome MONDO:8000032 Orphanet:2322 Orphanet:377789 obsolete malformation syndrome +MONDO:0016513 obsolete alpha-thalassemia-related diseases MONDO:0017144 Orphanet:232288 Orphanet:275745 obsolete alpha-thalassemia and related diseases +MONDO:0016514 epidermolysis bullosa simplex with anodontia/hypodontia MONDO:0020014 Orphanet:2325 Orphanet:98027 obsolete rare disease with odontological manifestation +MONDO:0016514 epidermolysis bullosa simplex with anodontia/hypodontia MONDO:0034937 Orphanet:2325 Orphanet:519292 obsolete syndromic ectopia lentis +MONDO:0016514 epidermolysis bullosa simplex with anodontia/hypodontia MONDO:0035685 Orphanet:2325 Orphanet:595351 obsolete epidermolysis bullosa simplex with extracutaneous involvement +MONDO:0016514 epidermolysis bullosa simplex with anodontia/hypodontia MONDO:8000032 Orphanet:2325 Orphanet:377789 obsolete malformation syndrome +MONDO:0016515 Kallmann syndrome-heart disease syndrome MONDO:0015890 Orphanet:2326 Orphanet:181387 obsolete rare disorder with congenital hypogonadotropic hypogonadism +MONDO:0016515 Kallmann syndrome-heart disease syndrome MONDO:0035863 Orphanet:2326 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0016515 Kallmann syndrome-heart disease syndrome MONDO:8000032 Orphanet:2326 Orphanet:377789 obsolete malformation syndrome +MONDO:0016516 Kenny-Caffey syndrome MONDO:0015329 Orphanet:2333 Orphanet:139021 obsolete malformation syndrome with short stature +MONDO:0016516 Kenny-Caffey syndrome MONDO:0015895 Orphanet:2333 Orphanet:181402 obsolete syndrome with hypoparathyroidism +MONDO:0016516 Kenny-Caffey syndrome MONDO:0019699 Orphanet:2333 Orphanet:93440 obsolete slender bone dysplasia +MONDO:0016516 Kenny-Caffey syndrome MONDO:0026187 Orphanet:2333 Orphanet:183570 obsolete genetic malformation syndrome with short stature +MONDO:0016516 Kenny-Caffey syndrome MONDO:8000032 Orphanet:2333 Orphanet:377789 obsolete malformation syndrome +MONDO:0016517 obsolete rare genetic vascular disease MONDO:0021198 Orphanet:233655 Orphanet:98053 obsolete rare genetic disease +MONDO:0016517 obsolete rare genetic vascular disease MONDO:0024471 Orphanet:233655 Orphanet:496924 obsolete non-inflammatory vasculopathy +MONDO:0016518 obsolete isolated punctate palmoplantar keratoderma MONDO:0017675 Orphanet:2338 Orphanet:307967 punctate palmoplantar keratoderma +MONDO:0016520 obsolete isolated Klippel-Feil syndrome MONDO:0015246 Orphanet:2345 Orphanet:117573 obsolete syndromic anorectal malformation +MONDO:0016520 obsolete isolated Klippel-Feil syndrome MONDO:0019711 Orphanet:2345 Orphanet:93454 obsolete dysostosis with predominant vertebral and costal involvement +MONDO:0016520 obsolete isolated Klippel-Feil syndrome MONDO:8000032 Orphanet:2345 Orphanet:377789 obsolete malformation syndrome +MONDO:0016521 muscular pseudohypertrophy-hypothyroidism syndrome MONDO:0015778 Orphanet:2349 Orphanet:177107 obsolete syndromic hypothyroidism +MONDO:0016522 Kousseff syndrome MONDO:0017120 Orphanet:2351 Orphanet:269531 obsolete other syndrome with a central nervous system malformation as major feature +MONDO:0016522 Kousseff syndrome MONDO:8000032 Orphanet:2351 Orphanet:377789 obsolete malformation syndrome +MONDO:0016523 bronchogenic cyst MONDO:8000030 Orphanet:2357 Orphanet:377791 obsolete morphological anomaly +MONDO:0016524 obsolete congenital vascular bone syndrome MONDO:0015958 Orphanet:235832 Orphanet:183524 obsolete rare genetic bone disease +MONDO:0016524 obsolete congenital vascular bone syndrome MONDO:0019684 Orphanet:235832 Orphanet:93419 obsolete rare bone disease +MONDO:0016525 familial hyperaldosteronism MONDO:0015512 Orphanet:235936 Orphanet:156629 obsolete genetic hypertension +MONDO:0016525 familial hyperaldosteronism MONDO:0015971 Orphanet:371861 Orphanet:183637 obsolete rare genetic adrenal disease +MONDO:0016525 familial hyperaldosteronism MONDO:0016508 Orphanet:235936 Orphanet:231641 obsolete rare non surgically correctable form of primary aldosteronism +MONDO:0016526 trisomy 9p MONDO:0020226 Orphanet:236 Orphanet:98642 obsolete chromosomal anomaly with cataract +MONDO:0016526 trisomy 9p MONDO:8000032 Orphanet:236 Orphanet:377789 obsolete malformation syndrome +MONDO:0016528 limb body wall complex MONDO:0015216 Orphanet:2369 Orphanet:108979 obsolete syndromic diaphragmatic or abdominal wall malformation +MONDO:0016528 limb body wall complex MONDO:8000032 Orphanet:2369 Orphanet:377789 obsolete malformation syndrome +MONDO:0016529 duplication of urethra MONDO:0015934 Orphanet:237 Orphanet:182124 obsolete non-syndromic urogenital tract malformation of male and female +MONDO:0016529 duplication of urethra MONDO:0019720 Orphanet:237 Orphanet:93546 obsolete non-syndromic renal or urinary tract malformation +MONDO:0016529 duplication of urethra MONDO:8000030 Orphanet:237 Orphanet:377791 obsolete morphological anomaly +MONDO:0016530 laryngocele MONDO:0015504 Orphanet:2372 Orphanet:156249 obsolete larynx anomaly +MONDO:0016530 laryngocele MONDO:8000032 Orphanet:2372 Orphanet:377789 obsolete malformation syndrome +MONDO:0016531 digestive duplication MONDO:0015211 Orphanet:238 Orphanet:108967 obsolete non-syndromic intestinal malformation +MONDO:0016531 digestive duplication MONDO:8000030 Orphanet:238 Orphanet:377791 obsolete morphological anomaly +MONDO:0016532 Lennox-Gastaut syndrome MONDO:0035862 Orphanet:2382 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome +MONDO:0016533 apolipoprotein A-II amyloidosis MONDO:8000031 Orphanet:238269 Orphanet:557494 obsolete subtype of a disorder +MONDO:0016535 hypohidrotic ectodermal dysplasia MONDO:0020014 Orphanet:238468 Orphanet:98027 obsolete rare disease with odontological manifestation +MONDO:0016535 hypohidrotic ectodermal dysplasia MONDO:0020194 Orphanet:238468 Orphanet:98604 obsolete congenital alacrima MONDO:0016536 obsolete autosomal recessive lymphoproliferative disease MONDO:0000001 Orphanet:238505 Orphanet:377788 disease +MONDO:0016536 obsolete autosomal recessive lymphoproliferative disease MONDO:0016537 Orphanet:238505 Orphanet:238510 lymphoproliferative syndrome +MONDO:0016537 lymphoproliferative syndrome MONDO:0015710 Orphanet:238510 Orphanet:169361 obsolete immune dysregulation disease with immunodeficiency +MONDO:0016542 immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections syndrome MONDO:0015940 Orphanet:238569 Orphanet:182231 obsolete rare rheumatologic disease +MONDO:0016542 immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections syndrome MONDO:0033967 Orphanet:238569 Orphanet:529974 obsolete immune dysregulation with inflammatory bowel disease +MONDO:0016543 hyperphenylalaninemia due to tetrahydrobiopterin deficiency MONDO:0017756 Orphanet:238583 Orphanet:309819 obsolete disorder of pterin metabolism +MONDO:0016544 IgG4-related mesenteritis MONDO:0015621 Orphanet:238593 Orphanet:165711 obsolete rare abdominal surgical disease +MONDO:0016544 IgG4-related mesenteritis MONDO:8000031 Orphanet:238593 Orphanet:557494 obsolete subtype of a disorder +MONDO:0016545 leukoencephalopathy-palmoplantar keratoderma syndrome MONDO:0017680 Orphanet:2386 Orphanet:308041 obsolete autosomal recessive disease associated with punctate palmoplantar keratoderma as a major feature +MONDO:0016546 primary orthostatic tremor MONDO:0017644 Orphanet:238606 Orphanet:306712 obsolete rare tremor disorder +MONDO:0016547 Beckwith-Wiedemann syndrome due to NSD1 mutation MONDO:8000031 Orphanet:238613 Orphanet:557494 obsolete subtype of a disorder +MONDO:0016548 megacystis-megaureter syndrome MONDO:0019720 Orphanet:238637 Orphanet:93546 obsolete non-syndromic renal or urinary tract malformation +MONDO:0016549 primary megaureter, adult-onset form MONDO:8000031 Orphanet:238642 Orphanet:557494 obsolete subtype of a disorder +MONDO:0016550 congenital primary megaureter, obstructed form MONDO:8000031 Orphanet:238646 Orphanet:557494 obsolete subtype of a disorder +MONDO:0016551 congenital primary megaureter, refluxing form MONDO:8000031 Orphanet:238650 Orphanet:557494 obsolete subtype of a disorder +MONDO:0016552 congenital primary megaureter, nonrefluxing and unobstructed form MONDO:8000031 Orphanet:238654 Orphanet:557494 obsolete subtype of a disorder +MONDO:0016553 isolated congenital hypogonadotropic hypogonadism MONDO:0018398 Orphanet:238666 Orphanet:399839 obsolete female infertility due to a congenital hypogonadotropic hypogonadism +MONDO:0016558 familial congenital mirror movements MONDO:0015143 Orphanet:238722 Orphanet:102003 obsolete rare movement disorder +MONDO:0016558 familial congenital mirror movements MONDO:0015957 Orphanet:238722 Orphanet:183521 obsolete rare genetic movement disorder +MONDO:0016558 familial congenital mirror movements MONDO:0035862 Orphanet:238722 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome +MONDO:0016559 glaucoma secondary to spherophakia/ectopia lentis and megalocornea MONDO:0020216 Orphanet:238763 Orphanet:98631 obsolete secondary dysgenetic glaucoma +MONDO:0016559 glaucoma secondary to spherophakia/ectopia lentis and megalocornea MONDO:8000032 Orphanet:238763 Orphanet:377789 obsolete malformation syndrome +MONDO:0016561 1q44 microdeletion syndrome MONDO:8000032 Orphanet:238769 Orphanet:377789 obsolete malformation syndrome +MONDO:0016565 obsolete syndromic genetic obesity MONDO:0015330 Orphanet:240371 Orphanet:139024 obsolete overgrowth/obesity syndrome +MONDO:0016565 obsolete syndromic genetic obesity MONDO:0019182 Orphanet:240371 Orphanet:77828 inherited obesity +MONDO:0016567 locked-in syndrome MONDO:0020009 Orphanet:2406 Orphanet:98006 obsolete rare neurologic disease +MONDO:0016568 Lowe-Kohn-Cohen syndrome MONDO:0015246 Orphanet:2408 Orphanet:117573 obsolete syndromic anorectal malformation +MONDO:0016568 Lowe-Kohn-Cohen syndrome MONDO:0019589 Orphanet:2408 Orphanet:90642 obsolete syndromic genetic hearing loss +MONDO:0016568 Lowe-Kohn-Cohen syndrome MONDO:8000032 Orphanet:2408 Orphanet:377789 obsolete malformation syndrome +MONDO:0016570 primary pulmonary lymphoma MONDO:0015119 Orphanet:2420 Orphanet:101945 obsolete bronchopulmonary tumor +MONDO:0016571 macrocephaly-short stature-paraplegia syndrome MONDO:0017121 Orphanet:2427 Orphanet:269546 obsolete syndrome with a Dandy-Walker malformation as major feature +MONDO:0016571 macrocephaly-short stature-paraplegia syndrome MONDO:0035863 Orphanet:2427 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0016571 macrocephaly-short stature-paraplegia syndrome MONDO:8000032 Orphanet:2427 Orphanet:377789 obsolete malformation syndrome +MONDO:0016573 acute fatty liver of pregnancy MONDO:0015114 Orphanet:243367 Orphanet:101939 obsolete rare parenchymal liver disease +MONDO:0016573 acute fatty liver of pregnancy MONDO:0015582 Orphanet:243367 Orphanet:163637 obsolete rare disorder related with pregnancy, childbirth and puerperium +MONDO:0016574 hypo- and hypermelanotic cutaneous macules-retarded growth-intellectual disability syndrome MONDO:0026157 Orphanet:2435 Orphanet:183463 obsolete genetic pigmentation anomaly of the skin +MONDO:0016574 hypo- and hypermelanotic cutaneous macules-retarded growth-intellectual disability syndrome MONDO:0035862 Orphanet:2435 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome +MONDO:0016575 primary ciliary dyskinesia MONDO:0015118 Orphanet:244 Orphanet:101944 obsolete rare pulmonary disease +MONDO:0016575 primary ciliary dyskinesia MONDO:0015510 Orphanet:244 Orphanet:156610 obsolete rare genetic respiratory disease +MONDO:0016575 primary ciliary dyskinesia MONDO:0018395 Orphanet:244 Orphanet:399813 obsolete male infertility due to sperm motility disorder +MONDO:0016575 primary ciliary dyskinesia MONDO:0022399 Orphanet:244 Orphanet:156171 obsolete retinal ciliopathy due to mutation in the RPGR gene +MONDO:0016576 split hand-foot malformation MONDO:0800090 Orphanet:2440 Orphanet:498477 obsolete ectrodactyly with and without other manifestations +MONDO:0016576 split hand-foot malformation MONDO:8000032 Orphanet:2440 Orphanet:377789 obsolete malformation syndrome +MONDO:0016577 biliary atresia with splenic malformation syndrome MONDO:0015214 Orphanet:244283 Orphanet:108973 obsolete syndromic visceral malformation +MONDO:0016577 biliary atresia with splenic malformation syndrome MONDO:0034661 Orphanet:244283 Orphanet:498350 obsolete syndromic biliary atresia +MONDO:0016577 biliary atresia with splenic malformation syndrome MONDO:8000032 Orphanet:244283 Orphanet:377789 obsolete malformation syndrome +MONDO:0016578 obsolete mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies MONDO:0016387 Orphanet:2443 Orphanet:223713 mitochondrial oxidative phosphorylation disorder MONDO:0016579 obsolete dominant hypophosphatemia with nephrolithiasis or osteoporosis MONDO:0000001 Orphanet:244305 Orphanet:377788 disease +MONDO:0016579 obsolete dominant hypophosphatemia with nephrolithiasis or osteoporosis MONDO:0000044 Orphanet:244305 Orphanet:437 hereditary hypophosphatemic rickets +MONDO:0016580 congenital pulmonary airway malformation MONDO:0015221 Orphanet:2444 Orphanet:108993 obsolete non-syndromic respiratory or mediastinal malformation +MONDO:0016580 congenital pulmonary airway malformation MONDO:0015930 Orphanet:2444 Orphanet:182111 obsolete respiratory malformation +MONDO:0016580 congenital pulmonary airway malformation MONDO:8000032 Orphanet:2444 Orphanet:377789 obsolete malformation syndrome +MONDO:0016581 conotruncal heart malformations MONDO:0020285 Orphanet:2445 Orphanet:98717 obsolete transposition of the great arteries and conotruncal cardiac anomaly +MONDO:0016582 congenital mitral malformation MONDO:0020288 Orphanet:2447 Orphanet:98720 obsolete atrioventricular valve anomaly +MONDO:0016584 mandibuloacral dysplasia MONDO:0020225 Orphanet:2457 Orphanet:98641 obsolete syndromic cataract +MONDO:0016584 mandibuloacral dysplasia MONDO:0031689 Orphanet:2457 Orphanet:363245 obsolete genetic progeroid syndrome +MONDO:0016584 mandibuloacral dysplasia MONDO:0043008 Orphanet:2457 Orphanet:330206 obsolete genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability +MONDO:0016584 mandibuloacral dysplasia MONDO:8000032 Orphanet:2457 Orphanet:377789 obsolete malformation syndrome +MONDO:0016587 arrhythmogenic right ventricular cardiomyopathy MONDO:0020029 Orphanet:247 Orphanet:98054 obsolete rare genetic cardiac disease +MONDO:0016588 infantile mercury poisoning MONDO:0035328 Orphanet:247165 Orphanet:556508 obsolete rare disorder due to poisoning MONDO:0016589 obsolete progressive cerebello-cerebral atrophy MONDO:0000001 Orphanet:247198 Orphanet:377788 disease +MONDO:0016589 obsolete progressive cerebello-cerebral atrophy MONDO:0017120 Orphanet:247198 Orphanet:269531 obsolete other syndrome with a central nervous system malformation as major feature +MONDO:0016591 sporadic adult-onset ataxia of unknown etiology MONDO:0016592 Orphanet:247234 Orphanet:247239 obsolete non-hereditary degenerative ataxia +MONDO:0016592 obsolete non-hereditary degenerative ataxia MONDO:0000437 Orphanet:247239 Orphanet:102002 cerebellar ataxia +MONDO:0016595 inhalational anthrax MONDO:0015575 Orphanet:247257 Orphanet:163582 obsolete rare bacterial infectious disease +MONDO:0016596 hyperphosphatasia-intellectual disability syndrome MONDO:0018292 Orphanet:247262 Orphanet:371195 obsolete congenital disorder of glycosylation-related bone disorder +MONDO:0016596 hyperphosphatasia-intellectual disability syndrome MONDO:0035863 Orphanet:247262 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0016596 hyperphosphatasia-intellectual disability syndrome MONDO:0800094 Orphanet:247262 Orphanet:498454 obsolete dysostosis with brachydactyly with extraskeletal manifestations MONDO:0016599 obsolete autosomal dominant secondary polycythemia MONDO:0000001 Orphanet:247511 Orphanet:377788 disease +MONDO:0016599 obsolete autosomal dominant secondary polycythemia MONDO:0016540 Orphanet:247511 Orphanet:238536 congenital secondary polycythemia +MONDO:0016600 acute neonatal citrullinemia type I MONDO:8000031 Orphanet:247546 Orphanet:557494 obsolete subtype of a disorder +MONDO:0016601 adult-onset citrullinemia type I MONDO:8000031 Orphanet:247573 Orphanet:557494 obsolete subtype of a disorder +MONDO:0016603 citrullinemia type II MONDO:0015115 Orphanet:247585 Orphanet:101940 obsolete rare genetic metabolic liver disease +MONDO:0016604 dysraphism-cleft lip/palate-limb reduction defects syndrome MONDO:0015335 Orphanet:2476 Orphanet:139039 obsolete Mendelian syndromes with cleft lip/palate +MONDO:0016604 dysraphism-cleft lip/palate-limb reduction defects syndrome MONDO:8000032 Orphanet:2476 Orphanet:377789 obsolete malformation syndrome +MONDO:0016605 perinatal lethal hypophosphatasia MONDO:8000031 Orphanet:247623 Orphanet:557494 obsolete subtype of a disorder +MONDO:0016606 obsolete prenatal benign hypophosphatasia MONDO:0015338 Orphanet:247638 Orphanet:139393 syndromic craniosynostosis +MONDO:0016606 obsolete prenatal benign hypophosphatasia MONDO:0018570 Orphanet:247638 Orphanet:436 hypophosphatasia +MONDO:0016606 obsolete prenatal benign hypophosphatasia MONDO:8000031 Orphanet:247638 Orphanet:557494 obsolete subtype of a disorder +MONDO:0016607 odontohypophosphatasia MONDO:0020014 Orphanet:247685 Orphanet:98027 obsolete rare disease with odontological manifestation +MONDO:0016607 odontohypophosphatasia MONDO:8000031 Orphanet:247685 Orphanet:557494 obsolete subtype of a disorder +MONDO:0016608 megalencephaly MONDO:0016054 Orphanet:2477 Orphanet:199633 obsolete cerebral malformation +MONDO:0016608 megalencephaly MONDO:8000032 Orphanet:2477 Orphanet:377789 obsolete malformation syndrome +MONDO:0016611 lipoblastoma MONDO:0019099 Orphanet:247762 Orphanet:71209 obsolete rare soft tissue tumor +MONDO:0016613 APC-related attenuated familial adenomatous polyposis MONDO:8000031 Orphanet:247806 Orphanet:557494 obsolete subtype of a disorder +MONDO:0016614 autosomal recessive ataxia due to PEX10 deficiency MONDO:0019058 Orphanet:247815 Orphanet:68385 obsolete neurometabolic disease +MONDO:0016619 autosomal recessive hypohidrotic ectodermal dysplasia MONDO:8000031 Orphanet:248 Orphanet:557494 obsolete subtype of a disorder +MONDO:0016620 primary hypertrophic osteoarthropathy MONDO:0018798 Orphanet:2796 Orphanet:477808 obsolete other genetic dermis disorder +MONDO:0016620 primary hypertrophic osteoarthropathy MONDO:0800084 Orphanet:248095 Orphanet:93444 obsolete primary bone dysplasia with increased bone density +MONDO:0016620 primary hypertrophic osteoarthropathy MONDO:8000032 Orphanet:2796 Orphanet:377789 obsolete malformation syndrome +MONDO:0016621 juvenile Huntington disease MONDO:0017646 Orphanet:248111 Orphanet:306719 obsolete neurodegenerative disease with chorea +MONDO:0016621 juvenile Huntington disease MONDO:0020136 Orphanet:248111 Orphanet:98534 obsolete neurodegenerative disease with dementia +MONDO:0016621 juvenile Huntington disease MONDO:0021037 Orphanet:248111 Orphanet:276058 obsolete genetic neurodegenerative disease with dementia +MONDO:0016622 Melhem-Fahl syndrome MONDO:0019711 Orphanet:2482 Orphanet:93454 obsolete dysostosis with predominant vertebral and costal involvement +MONDO:0016622 Melhem-Fahl syndrome MONDO:8000032 Orphanet:2482 Orphanet:377789 obsolete malformation syndrome +MONDO:0016623 obsolete rare deficiency anemia MONDO:0015223 Orphanet:248293 Orphanet:108997 obsolete rare anemia +MONDO:0016624 inherited deficiency anemia MONDO:0015972 Orphanet:248296 Orphanet:183651 obsolete rare constitutional anemia +MONDO:0016624 inherited deficiency anemia MONDO:0016623 Orphanet:248296 Orphanet:248293 obsolete rare deficiency anemia +MONDO:0016625 acquired deficiency anemia MONDO:0016623 Orphanet:248302 Orphanet:248293 obsolete rare deficiency anemia +MONDO:0016627 obsolete rare hemorrhagic disorder MONDO:0020116 Orphanet:248308 Orphanet:98429 obsolete rare blood coagulation disease +MONDO:0016628 obsolete hemorrhagic disorder due to a coagulation factors defect MONDO:0016627 Orphanet:248315 Orphanet:248308 obsolete rare hemorrhagic disorder +MONDO:0016629 obsolete hemorrhagic disorder due to a platelet anomaly MONDO:0016627 Orphanet:248326 Orphanet:248308 obsolete rare hemorrhagic disorder +MONDO:0016630 isolated delta-storage pool disease MONDO:0018796 Orphanet:248340 Orphanet:477797 obsolete isolated constitutional thrombocytopenia +MONDO:0016631 obsolete hemorrhagic disorder due to an acquired platelet anomaly MONDO:0016629 Orphanet:248347 Orphanet:248326 obsolete hemorrhagic disorder due to a platelet anomaly +MONDO:0016632 obsolete thrombotic disorder due to a coagulation factors defect MONDO:0015913 Orphanet:248358 Orphanet:182054 obsolete rare thrombotic disease of hematologic origin +MONDO:0016633 obsolete thrombotic disorder due to a constitutional coagulation factors defect MONDO:0016632 Orphanet:248361 Orphanet:248358 obsolete thrombotic disorder due to a coagulation factors defect +MONDO:0016633 obsolete thrombotic disorder due to a constitutional coagulation factors defect MONDO:0021181 Orphanet:248361 Orphanet:183654 inherited blood coagulation disorder +MONDO:0016634 obsolete thrombotic disorder due to an acquired coagulation factors defect MONDO:0016632 Orphanet:248365 Orphanet:248358 obsolete thrombotic disorder due to a coagulation factors defect +MONDO:0016635 obsolete thrombotic disorder due to a platelet anomaly MONDO:0015913 Orphanet:248368 Orphanet:182054 obsolete rare thrombotic disease of hematologic origin +MONDO:0016636 obsolete thrombotic disorder due to a constitutional platelet anomaly MONDO:0016635 Orphanet:248401 Orphanet:248368 obsolete thrombotic disorder due to a platelet anomaly +MONDO:0016636 obsolete thrombotic disorder due to a constitutional platelet anomaly MONDO:0021181 Orphanet:248401 Orphanet:183654 inherited blood coagulation disorder +MONDO:0016637 obsolete thrombotic disorder due to an acquired platelet anomaly MONDO:0016635 Orphanet:248404 Orphanet:248368 obsolete thrombotic disorder due to a platelet anomaly +MONDO:0016638 familial hypodysfibrinogenemia MONDO:8000031 Orphanet:248408 Orphanet:557494 obsolete subtype of a disorder +MONDO:0016639 lower limb deficiency-hypospadias syndrome MONDO:0015620 Orphanet:2487 Orphanet:165707 obsolete syndromic urogenital tract malformation +MONDO:0016639 lower limb deficiency-hypospadias syndrome MONDO:8000032 Orphanet:2487 Orphanet:377789 obsolete malformation syndrome +MONDO:0016641 limb transversal defect-cardiac anomaly syndrome MONDO:0017432 Orphanet:2492 Orphanet:294955 obsolete syndrome with limb reduction defects +MONDO:0016641 limb transversal defect-cardiac anomaly syndrome MONDO:0017434 Orphanet:2492 Orphanet:294959 obsolete syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy +MONDO:0016641 limb transversal defect-cardiac anomaly syndrome MONDO:8000032 Orphanet:2492 Orphanet:377789 obsolete malformation syndrome +MONDO:0016642 meningioma MONDO:0019833 Orphanet:2495 Orphanet:95503 obsolete pituitary hormone deficiency from tumoral origin +MONDO:0016643 frontonasal dysplasia MONDO:0800085 Orphanet:250 Orphanet:93453 obsolete dysostosis with predominant craniofacial involvement +MONDO:0016645 obsolete rare neoplastic disease MONDO:8000033 Orphanet:250908 Orphanet:557492 obsolete group of disorders +MONDO:0016646 autosomal dominant optic atrophy and peripheral neuropathy MONDO:0016799 Orphanet:250932 Orphanet:254822 obsolete mitochondrial oxidative phosphorylation disorder with no known mechanism +MONDO:0016647 obsolete autosomal recessive Stickler syndrome MONDO:0019354 Orphanet:250984 Orphanet:828 Stickler syndrome +MONDO:0016647 obsolete autosomal recessive Stickler syndrome MONDO:0019692 Orphanet:250984 Orphanet:93429 obsolete multiple epiphyseal dysplasia and pseudoachondroplasia +MONDO:0016647 obsolete autosomal recessive Stickler syndrome MONDO:8000031 Orphanet:250984 Orphanet:557494 obsolete subtype of a disorder +MONDO:0016648 multiple epiphyseal dysplasia MONDO:0019692 Orphanet:251 Orphanet:93429 obsolete multiple epiphyseal dysplasia and pseudoachondroplasia +MONDO:0016649 Warburg micro syndrome MONDO:0015147 Orphanet:2510 Orphanet:102010 obsolete other syndrome with lissencephaly as a major feature +MONDO:0016649 Warburg micro syndrome MONDO:0016055 Orphanet:2510 Orphanet:199639 obsolete syndrome with corpus callosum agenesis /dysgenesis as a major feature +MONDO:0016649 Warburg micro syndrome MONDO:0017119 Orphanet:2510 Orphanet:269528 obsolete syndrome with microcephaly as major feature +MONDO:0016649 Warburg micro syndrome MONDO:0017122 Orphanet:2510 Orphanet:269573 obsolete genetic syndrome with corpus callosum agenesis/dysgenesis as a major feature +MONDO:0016649 Warburg micro syndrome MONDO:0020225 Orphanet:2510 Orphanet:98641 obsolete syndromic cataract +MONDO:0016649 Warburg micro syndrome MONDO:8000032 Orphanet:2510 Orphanet:377789 obsolete malformation syndrome +MONDO:0016650 paternal uniparental disomy of chromosome 1 MONDO:0020057 Orphanet:251004 Orphanet:98154 obsolete uniparental disomy of paternal origin +MONDO:0016650 paternal uniparental disomy of chromosome 1 MONDO:8000032 Orphanet:251004 Orphanet:377789 obsolete malformation syndrome +MONDO:0016651 maternal uniparental disomy of chromosome 1 MONDO:0020056 Orphanet:251009 Orphanet:98153 obsolete uniparental disomy of maternal origin +MONDO:0016651 maternal uniparental disomy of chromosome 1 MONDO:8000032 Orphanet:251009 Orphanet:377789 obsolete malformation syndrome +MONDO:0016652 2q31.1 microdeletion syndrome MONDO:8000032 Orphanet:251014 Orphanet:377789 obsolete malformation syndrome +MONDO:0016653 2q33.1 microdeletion syndrome MONDO:8000031 Orphanet:251028 Orphanet:557494 obsolete subtype of a disorder +MONDO:0016654 ring chromosome 5 MONDO:0018186 Orphanet:251043 Orphanet:363203 obsolete ring chromosome +MONDO:0016654 ring chromosome 5 MONDO:8000032 Orphanet:251043 Orphanet:377789 obsolete malformation syndrome +MONDO:0016655 6p22 microdeletion syndrome MONDO:8000032 Orphanet:251046 Orphanet:377789 obsolete malformation syndrome +MONDO:0016656 7q31 microdeletion syndrome MONDO:8000032 Orphanet:251061 Orphanet:377789 obsolete malformation syndrome +MONDO:0016657 8p11.2 deletion syndrome MONDO:8000032 Orphanet:251066 Orphanet:377789 obsolete malformation syndrome +MONDO:0016658 8p23.1 microdeletion syndrome MONDO:0015620 Orphanet:251071 Orphanet:165707 obsolete syndromic urogenital tract malformation +MONDO:0016658 8p23.1 microdeletion syndrome MONDO:8000032 Orphanet:251071 Orphanet:377789 obsolete malformation syndrome +MONDO:0016659 8p23.1 duplication syndrome MONDO:8000032 Orphanet:251076 Orphanet:377789 obsolete malformation syndrome +MONDO:0016660 autosomal recessive primary microcephaly MONDO:0034962 Orphanet:2512 Orphanet:519343 obsolete rare ophthalmic disorder with cortical involvement +MONDO:0016660 autosomal recessive primary microcephaly MONDO:0035863 Orphanet:2512 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0016660 autosomal recessive primary microcephaly MONDO:8000031 Orphanet:2512 Orphanet:557494 obsolete subtype of a disorder +MONDO:0016661 infantile onset panniculitis with uveitis and systemic granulomatosis MONDO:0017370 Orphanet:251304 Orphanet:290842 obsolete autoinflammatory syndrome with skin involvement +MONDO:0016661 infantile onset panniculitis with uveitis and systemic granulomatosis MONDO:0017955 Orphanet:251304 Orphanet:324930 obsolete granulomatous autoinflammatory syndrome +MONDO:0016662 idiopathic recurrent pericarditis MONDO:0017957 Orphanet:251307 Orphanet:324936 obsolete unclassified autoinflammatory syndrome +MONDO:0016663 overlapping connective tissue disease MONDO:0015939 Orphanet:251312 Orphanet:182228 obsolete systemic autoimmune disease MONDO:0016665 obsolete unclassified vasculitis MONDO:0000001 Orphanet:251328 Orphanet:377788 disease -MONDO:0016815 obsolete Leigh syndrome with leukodystrophy MONDO:0000001 Orphanet:255241 Orphanet:377788 disease -MONDO:0016816 obsolete Leigh syndrome with nephrotic syndrome MONDO:0000001 Orphanet:255249 Orphanet:377788 disease +MONDO:0016665 obsolete unclassified vasculitis MONDO:0018882 Orphanet:251328 Orphanet:52759 vasculitis +MONDO:0016667 obsolete sickle cell disease associated with an other hemoglobin anomaly MONDO:0017146 Orphanet:251355 Orphanet:275752 obsolete sickle cell disease and related diseases +MONDO:0016668 sickle cell-beta-thalassemia disease syndrome MONDO:0016667 Orphanet:251359 Orphanet:251355 obsolete sickle cell disease associated with an other hemoglobin anomaly +MONDO:0016669 sickle cell-hemoglobin c disease syndrome MONDO:0016667 Orphanet:251365 Orphanet:251355 obsolete sickle cell disease associated with an other hemoglobin anomaly +MONDO:0016670 sickle cell-hemoglobin d disease syndrome MONDO:0016667 Orphanet:251370 Orphanet:251355 obsolete sickle cell disease associated with an other hemoglobin anomaly +MONDO:0016671 sickle cell-hemoglobin E disease syndrome MONDO:0016667 Orphanet:251375 Orphanet:251355 obsolete sickle cell disease associated with an other hemoglobin anomaly +MONDO:0016672 hereditary persistence of fetal hemoglobin-sickle cell disease syndrome MONDO:0016667 Orphanet:251380 Orphanet:251355 obsolete sickle cell disease associated with an other hemoglobin anomaly +MONDO:0016673 localized junctional epidermolysis bullosa, non-Herlitz type MONDO:0020014 Orphanet:251393 Orphanet:98027 obsolete rare disease with odontological manifestation +MONDO:0016674 46,XY partial gonadal dysgenesis MONDO:0017966 Orphanet:251510 Orphanet:325118 obsolete 46,XY disorder of gonadal development +MONDO:0016674 46,XY partial gonadal dysgenesis MONDO:0018402 Orphanet:251510 Orphanet:399877 obsolete female infertility due to gonadal dysgenesis +MONDO:0016674 46,XY partial gonadal dysgenesis MONDO:0020038 Orphanet:251510 Orphanet:98074 obsolete gonadal dysgenesis of gynecological interest +MONDO:0016674 46,XY partial gonadal dysgenesis MONDO:0020090 Orphanet:251510 Orphanet:98313 obsolete male infertility due to gonadal dysgenesis +MONDO:0016674 46,XY partial gonadal dysgenesis MONDO:8000032 Orphanet:251510 Orphanet:377789 obsolete malformation syndrome +MONDO:0016675 distal arthrogryposis type 10 MONDO:8000032 Orphanet:251515 Orphanet:377789 obsolete malformation syndrome +MONDO:0016676 recurrent infections-inflammatory syndrome due to zinc metabolism disorder syndrome MONDO:0017370 Orphanet:251523 Orphanet:290842 obsolete autoinflammatory syndrome with skin involvement +MONDO:0016676 recurrent infections-inflammatory syndrome due to zinc metabolism disorder syndrome MONDO:0017954 Orphanet:251523 Orphanet:324927 obsolete pyogenic autoinflammatory syndrome +MONDO:0016676 recurrent infections-inflammatory syndrome due to zinc metabolism disorder syndrome MONDO:0019301 Orphanet:251523 Orphanet:79387 obsolete metabolic disease with skin involvement +MONDO:0016676 recurrent infections-inflammatory syndrome due to zinc metabolism disorder syndrome MONDO:0957404 Orphanet:251523 Orphanet:324942 obsolete pyogenic autoinflammatory syndrome of childhood +MONDO:0016677 toxic or drug-related embryofetopathy MONDO:0015224 Orphanet:251529 Orphanet:108999 obsolete rare intoxication +MONDO:0016677 toxic or drug-related embryofetopathy MONDO:0018880 Orphanet:251529 Orphanet:52662 obsolete rare teratologic disease +MONDO:0016678 obsolete maternal disease-related embryofetopathy MONDO:0018880 Orphanet:251535 Orphanet:52662 obsolete rare teratologic disease +MONDO:0016679 obsolete rare tumor of neuroepithelial tissue MONDO:0020036 Orphanet:251558 Orphanet:98062 obsolete rare nervous system tumor +MONDO:0016681 gliosarcoma MONDO:8000031 Orphanet:251576 Orphanet:557494 obsolete subtype of a disorder +MONDO:0016682 giant cell glioblastoma MONDO:8000031 Orphanet:251579 Orphanet:557494 obsolete subtype of a disorder +MONDO:0016687 protoplasmic astrocytoma MONDO:8000031 Orphanet:251598 Orphanet:557494 obsolete subtype of a disorder +MONDO:0016688 fibrillary astrocytoma MONDO:8000031 Orphanet:251601 Orphanet:557494 obsolete subtype of a disorder +MONDO:0016689 gemistocytic astrocytoma MONDO:8000031 Orphanet:251604 Orphanet:557494 obsolete subtype of a disorder +MONDO:0016692 pilomyxoid astrocytoma MONDO:8000031 Orphanet:251615 Orphanet:557494 obsolete subtype of a disorder +MONDO:0016701 obsolete oligoastrocytic tumor MONDO:0021042 Orphanet:251651 Orphanet:182067 glioma +MONDO:0016702 oligoastrocytoma MONDO:0016701 Orphanet:251656 Orphanet:251651 obsolete oligoastrocytic tumor +MONDO:0016703 anaplastic oligoastrocytoma MONDO:0016701 Orphanet:251663 Orphanet:251651 obsolete oligoastrocytic tumor +MONDO:0016704 obsolete glial tumor of neuroepithelial tissue with unknown origin MONDO:0021042 Orphanet:251668 Orphanet:182067 glioma +MONDO:0016705 angiocentric glioma MONDO:0016704 Orphanet:251671 Orphanet:251668 obsolete glial tumor of neuroepithelial tissue with unknown origin +MONDO:0016706 chordoid glioma of the third ventricle MONDO:0016704 Orphanet:251674 Orphanet:251668 obsolete glial tumor of neuroepithelial tissue with unknown origin +MONDO:0016707 astroblastoma MONDO:0016704 Orphanet:251679 Orphanet:251668 obsolete glial tumor of neuroepithelial tissue with unknown origin +MONDO:0016708 obsolete embryonal tumor of neuroepithelial tissue MONDO:0016679 Orphanet:251852 Orphanet:251558 obsolete rare tumor of neuroepithelial tissue +MONDO:0016709 anaplastic/large cell medulloblastoma MONDO:8000031 Orphanet:251855 Orphanet:557494 obsolete subtype of a disorder +MONDO:0016710 medulloblastoma with extensive nodularity MONDO:8000031 Orphanet:251858 Orphanet:557494 obsolete subtype of a disorder +MONDO:0016711 desmoplastic/nodular medulloblastoma MONDO:8000031 Orphanet:251863 Orphanet:557494 obsolete subtype of a disorder +MONDO:0016712 classic medulloblastoma MONDO:8000031 Orphanet:251867 Orphanet:557494 obsolete subtype of a disorder +MONDO:0016713 central nervous system Ewing sarcoma/peripheral primitive neuroectodermal tumor MONDO:0016708 Orphanet:251870 Orphanet:251852 obsolete embryonal tumor of neuroepithelial tissue +MONDO:0016717 choroid plexus neoplasm MONDO:0016679 Orphanet:251896 Orphanet:251558 obsolete rare tumor of neuroepithelial tissue +MONDO:0016719 microcephaly-seizures-intellectual disability-heart disease syndrome MONDO:0015506 Orphanet:2519 Orphanet:156532 obsolete rare syndrome with cardiac malformations +MONDO:0016719 microcephaly-seizures-intellectual disability-heart disease syndrome MONDO:0035863 Orphanet:2519 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0016719 microcephaly-seizures-intellectual disability-heart disease syndrome MONDO:8000032 Orphanet:2519 Orphanet:377789 obsolete malformation syndrome +MONDO:0016721 obsolete pineal tumor of neuroepithelial tissue MONDO:0016679 Orphanet:251905 Orphanet:251558 obsolete rare tumor of neuroepithelial tissue +MONDO:0016722 pineoblastoma MONDO:0016721 Orphanet:251909 Orphanet:251905 obsolete pineal tumor of neuroepithelial tissue +MONDO:0016723 pineocytoma MONDO:0016721 Orphanet:251912 Orphanet:251905 obsolete pineal tumor of neuroepithelial tissue +MONDO:0016724 papillary tumor of the pineal region MONDO:0016721 Orphanet:251915 Orphanet:251905 obsolete pineal tumor of neuroepithelial tissue +MONDO:0016726 obsolete neuronal tumor MONDO:0016679 Orphanet:251924 Orphanet:251558 obsolete rare tumor of neuroepithelial tissue +MONDO:0016727 extraventricular neurocytoma MONDO:0016726 Orphanet:251927 Orphanet:251924 obsolete neuronal tumor +MONDO:0016729 mixed neuronal-glial tumor MONDO:0016679 Orphanet:251934 Orphanet:251558 obsolete rare tumor of neuroepithelial tissue +MONDO:0016738 obsolete primary germ cell tumor of central nervous system MONDO:0018201 Orphanet:251995 Orphanet:363579 extragonadal germ cell tumor +MONDO:0016738 obsolete primary germ cell tumor of central nervous system MONDO:0020036 Orphanet:251995 Orphanet:98062 obsolete rare nervous system tumor +MONDO:0016739 yolk sac tumor of central nervous system MONDO:0016738 Orphanet:252006 Orphanet:251995 obsolete primary germ cell tumor of central nervous system +MONDO:0016739 yolk sac tumor of central nervous system MONDO:8000031 Orphanet:252006 Orphanet:557494 obsolete subtype of a disorder +MONDO:0016740 choriocarcinoma of the central nervous system MONDO:0016738 Orphanet:252015 Orphanet:251995 obsolete primary germ cell tumor of central nervous system +MONDO:0016742 mixed germ cell tumor of central nervous system MONDO:0016738 Orphanet:252021 Orphanet:251995 obsolete primary germ cell tumor of central nervous system +MONDO:0016742 mixed germ cell tumor of central nervous system MONDO:8000031 Orphanet:252021 Orphanet:557494 obsolete subtype of a disorder +MONDO:0016743 tumor of meninges MONDO:0020036 Orphanet:252025 Orphanet:98062 obsolete rare nervous system tumor +MONDO:0016744 obsolete primary melanocytic tumor of central nervous system MONDO:0016743 Orphanet:252028 Orphanet:252025 tumor of meninges +MONDO:0016745 diffuse leptomeningeal melanocytosis MONDO:0016744 Orphanet:252031 Orphanet:252028 obsolete primary melanocytic tumor of central nervous system +MONDO:0016746 meningeal melanocytoma MONDO:0016744 Orphanet:252046 Orphanet:252028 obsolete primary melanocytic tumor of central nervous system +MONDO:0016747 primary melanoma of the central nervous system MONDO:0016744 Orphanet:252050 Orphanet:252028 obsolete primary melanocytic tumor of central nervous system +MONDO:0016748 hemangioblastoma MONDO:0020036 Orphanet:252054 Orphanet:98062 obsolete rare nervous system tumor +MONDO:0016749 tumor of cranial and spinal nerves MONDO:0020036 Orphanet:252057 Orphanet:98062 obsolete rare nervous system tumor +MONDO:0016750 microcephaly-cleft palate syndrome MONDO:0015335 Orphanet:2521 Orphanet:139039 obsolete Mendelian syndromes with cleft lip/palate +MONDO:0016750 microcephaly-cleft palate syndrome MONDO:0035863 Orphanet:2521 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0016750 microcephaly-cleft palate syndrome MONDO:8000032 Orphanet:2521 Orphanet:377789 obsolete malformation syndrome +MONDO:0016751 malignant perineurioma MONDO:8000031 Orphanet:252128 Orphanet:557494 obsolete subtype of a disorder +MONDO:0016756 obsolete inherited nervous system cancer-predisposing syndrome MONDO:0020009 Orphanet:252190 Orphanet:98006 obsolete rare neurologic disease +MONDO:0016757 malignant triton tumor MONDO:8000031 Orphanet:252212 Orphanet:557494 obsolete subtype of a disorder +MONDO:0016758 microcephaly-brain defect-spasticity-hypernatremia syndrome MONDO:0017119 Orphanet:2523 Orphanet:269528 obsolete syndrome with microcephaly as major feature +MONDO:0016758 microcephaly-brain defect-spasticity-hypernatremia syndrome MONDO:0035863 Orphanet:2523 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0016758 microcephaly-brain defect-spasticity-hypernatremia syndrome MONDO:8000032 Orphanet:2523 Orphanet:377789 obsolete malformation syndrome +MONDO:0016759 pontocerebellar hypoplasia type 2 MONDO:0016131 Orphanet:2524 Orphanet:207012 obsolete spinal muscular atrophy associated with central nervous system anomaly +MONDO:0016759 pontocerebellar hypoplasia type 2 MONDO:8000032 Orphanet:2524 Orphanet:377789 obsolete malformation syndrome +MONDO:0016760 microcephaly-microcornea syndrome, Seemanova type MONDO:0017119 Orphanet:2528 Orphanet:269528 obsolete syndrome with microcephaly as major feature +MONDO:0016760 microcephaly-microcornea syndrome, Seemanova type MONDO:0020225 Orphanet:2528 Orphanet:98641 obsolete syndromic cataract +MONDO:0016760 microcephaly-microcornea syndrome, Seemanova type MONDO:0035863 Orphanet:2528 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0016760 microcephaly-microcornea syndrome, Seemanova type MONDO:8000032 Orphanet:2528 Orphanet:377789 obsolete malformation syndrome +MONDO:0016764 isolated anophthalmia-microphthalmia syndrome MONDO:0020147 Orphanet:2542 Orphanet:98555 obsolete anophthalmia-microphthalmia syndrome +MONDO:0016765 19p13.12 microdeletion syndrome MONDO:8000032 Orphanet:254346 Orphanet:377789 obsolete malformation syndrome +MONDO:0016766 obsolete rare lichen planus MONDO:0019268 Orphanet:254367 Orphanet:79353 epidermal disease +MONDO:0016767 obsolete cutaneous lichen planus MONDO:0016766 Orphanet:254370 Orphanet:254367 obsolete rare lichen planus +MONDO:0016768 obsolete rare mucosal lichen planus MONDO:0016766 Orphanet:254373 Orphanet:254367 obsolete rare lichen planus +MONDO:0016769 linear lichen planus MONDO:0016767 Orphanet:254379 Orphanet:254370 obsolete cutaneous lichen planus +MONDO:0016770 actinic lichen planus MONDO:0016767 Orphanet:254395 Orphanet:254370 obsolete cutaneous lichen planus +MONDO:0016771 annular atrophic lichen planus MONDO:0016767 Orphanet:254411 Orphanet:254370 obsolete cutaneous lichen planus +MONDO:0016772 annular lichen planus MONDO:0016767 Orphanet:254424 Orphanet:254370 obsolete cutaneous lichen planus +MONDO:0016773 atrophic lichen planus MONDO:0016767 Orphanet:254449 Orphanet:254370 obsolete cutaneous lichen planus +MONDO:0016774 lichen planus pigmentosus MONDO:0016767 Orphanet:254463 Orphanet:254370 obsolete cutaneous lichen planus +MONDO:0016775 lichen planus pemphigoides MONDO:0016767 Orphanet:254478 Orphanet:254370 obsolete cutaneous lichen planus +MONDO:0016776 frontal fibrosing alopecia MONDO:0016767 Orphanet:254492 Orphanet:254370 obsolete cutaneous lichen planus +MONDO:0016777 inhalational botulism MONDO:8000031 Orphanet:254504 Orphanet:557494 obsolete subtype of a disorder +MONDO:0016778 iatrogenic botulism MONDO:8000031 Orphanet:254509 Orphanet:557494 obsolete subtype of a disorder +MONDO:0016779 multiple congenital anomalies due to 14q32.2 maternally expressed gene defect MONDO:0035863 Orphanet:254519 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0016779 multiple congenital anomalies due to 14q32.2 maternally expressed gene defect MONDO:8000032 Orphanet:254519 Orphanet:377789 obsolete malformation syndrome +MONDO:0016780 paternal 14q32.2 microdeletion syndrome MONDO:8000031 Orphanet:254525 Orphanet:557494 obsolete subtype of a disorder +MONDO:0016781 maternal 14q32.2 microdeletion syndrome MONDO:8000031 Orphanet:254528 Orphanet:557494 obsolete subtype of a disorder +MONDO:0016782 paternal 14q32.2 hypomethylation syndrome MONDO:8000031 Orphanet:254531 Orphanet:557494 obsolete subtype of a disorder +MONDO:0016783 maternal 14q32.2 hypermethylation syndrome MONDO:8000031 Orphanet:254534 Orphanet:557494 obsolete subtype of a disorder +MONDO:0016784 obsolete gestational trophoblastic disease MONDO:0020037 Orphanet:254685 Orphanet:98063 obsolete rare gynecological tumor +MONDO:0016785 complete hydatidiform mole MONDO:8000031 Orphanet:254688 Orphanet:557494 obsolete subtype of a disorder +MONDO:0016786 partial hydatidiform mole MONDO:8000031 Orphanet:254693 Orphanet:557494 obsolete subtype of a disorder +MONDO:0016788 obsolete genetic hyperferritinemia without iron overload MONDO:0018652 Orphanet:254704 Orphanet:447874 obsolete biological anomaly without phenotypic characterization +MONDO:0016788 obsolete genetic hyperferritinemia without iron overload MONDO:0032011 Orphanet:254704 Orphanet:377790 obsolete biological anomaly +MONDO:0016791 obsolete mitochondrial oxidative phosphorylation disorder due to mitochondrial DNA anomalies MONDO:0016387 Orphanet:254758 Orphanet:223713 mitochondrial oxidative phosphorylation disorder +MONDO:0016792 obsolete mitochondrial oxidative phosphorylation disorder due to a large-scale single deletion of mitochondrial DNA MONDO:0016791 Orphanet:254767 Orphanet:254758 obsolete mitochondrial oxidative phosphorylation disorder due to mitochondrial DNA anomalies +MONDO:0016793 obsolete mitochondrial oxidative phosphorylation disorder due to a point mutation of mitochondrial DNA MONDO:0016791 Orphanet:254776 Orphanet:254758 obsolete mitochondrial oxidative phosphorylation disorder due to mitochondrial DNA anomalies +MONDO:0016794 obsolete maternally-inherited mitochondrial myopathy MONDO:0016793 Orphanet:254788 Orphanet:254776 obsolete mitochondrial oxidative phosphorylation disorder due to a point mutation of mitochondrial DNA +MONDO:0016796 mitochondrial DNA depletion syndrome, encephalomyopathic form MONDO:0019058 Orphanet:254803 Orphanet:68385 obsolete neurometabolic disease +MONDO:0016797 obsolete multiple mitochondrial DNA deletion syndrome MONDO:0018121 Orphanet:254807 Orphanet:352456 mitochondrial DNA maintenance syndrome +MONDO:0016798 ataxia neuropathy spectrum MONDO:0016797 Orphanet:254818 Orphanet:254807 obsolete multiple mitochondrial DNA deletion syndrome +MONDO:0016799 obsolete mitochondrial oxidative phosphorylation disorder with no known mechanism MONDO:0016578 Orphanet:254822 Orphanet:2443 obsolete mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies +MONDO:0016803 obsolete unspecified inborn mitochondrial disorder MONDO:0004069 Orphanet:254837 Orphanet:68380 inborn mitochondrial metabolism disorder +MONDO:0016804 obsolete exercise intolerance with lactic acidosis MONDO:0017718 Orphanet:254843 Orphanet:309136 obsolete mitochondrial disorder due to a defect in assembly or maturation of the respiratory chain complexes +MONDO:0016805 obsolete isolated oxidative phosphorylation complex disorder MONDO:0016387 Orphanet:254846 Orphanet:223713 mitochondrial oxidative phosphorylation disorder +MONDO:0016806 maternally-inherited mitochondrial dystonia MONDO:0016793 Orphanet:254851 Orphanet:254776 obsolete mitochondrial oxidative phosphorylation disorder due to a point mutation of mitochondrial DNA +MONDO:0016807 pure mitochondrial myopathy MONDO:0016794 Orphanet:254854 Orphanet:254788 obsolete maternally-inherited mitochondrial myopathy +MONDO:0016810 autosomal recessive progressive external ophthalmoplegia MONDO:0016797 Orphanet:254886 Orphanet:254807 obsolete multiple mitochondrial DNA deletion syndrome +MONDO:0016810 autosomal recessive progressive external ophthalmoplegia MONDO:0019058 Orphanet:254886 Orphanet:68385 obsolete neurometabolic disease +MONDO:0016811 renal tubulopathy-encephalopathy-liver failure syndrome MONDO:0015115 Orphanet:254902 Orphanet:101940 obsolete rare genetic metabolic liver disease +MONDO:0016811 renal tubulopathy-encephalopathy-liver failure syndrome MONDO:0017718 Orphanet:254902 Orphanet:309136 obsolete mitochondrial disorder due to a defect in assembly or maturation of the respiratory chain complexes +MONDO:0016812 dopa-responsive dystonia MONDO:0017756 Orphanet:255 Orphanet:309819 obsolete disorder of pterin metabolism +MONDO:0016812 dopa-responsive dystonia MONDO:0018329 Orphanet:255 Orphanet:391711 obsolete persistent combined dystonia +MONDO:0016814 maternally-inherited Leigh syndrome MONDO:0016793 Orphanet:255210 Orphanet:254776 obsolete mitochondrial oxidative phosphorylation disorder due to a point mutation of mitochondrial DNA +MONDO:0016814 maternally-inherited Leigh syndrome MONDO:0019058 Orphanet:255210 Orphanet:68385 obsolete neurometabolic disease +MONDO:0016817 Meier-Gorlin syndrome MONDO:0015334 Orphanet:2554 Orphanet:139036 obsolete branchial arch or oral-acral syndrome +MONDO:0016817 Meier-Gorlin syndrome MONDO:0017950 Orphanet:2554 Orphanet:324761 obsolete microcephalic primordial dwarfism +MONDO:0016817 Meier-Gorlin syndrome MONDO:0019699 Orphanet:2554 Orphanet:93440 obsolete slender bone dysplasia +MONDO:0016817 Meier-Gorlin syndrome MONDO:0019712 Orphanet:2554 Orphanet:93455 obsolete patellar dysostosis +MONDO:0016817 Meier-Gorlin syndrome MONDO:0026189 Orphanet:2554 Orphanet:183576 obsolete genetic branchial arch or oral-acral syndrome +MONDO:0016817 Meier-Gorlin syndrome MONDO:8000032 Orphanet:2554 Orphanet:377789 obsolete malformation syndrome +MONDO:0016818 Mikati-Najjar-Sahli syndrome MONDO:0015906 Orphanet:2558 Orphanet:181441 obsolete rare disorder with hypergonadotropic hypogonadism +MONDO:0016818 Mikati-Najjar-Sahli syndrome MONDO:8000032 Orphanet:2558 Orphanet:377789 obsolete malformation syndrome +MONDO:0016819 Moebius syndrome-axonal neuropathy-hypogonadotropic hypogonadism syndrome MONDO:0015890 Orphanet:2560 Orphanet:181387 obsolete rare disorder with congenital hypogonadotropic hypogonadism +MONDO:0016819 Moebius syndrome-axonal neuropathy-hypogonadotropic hypogonadism syndrome MONDO:8000032 Orphanet:2560 Orphanet:377789 obsolete malformation syndrome +MONDO:0016820 Moyamoya disease MONDO:0018791 Orphanet:2573 Orphanet:477768 obsolete Moyomoya angiopathy +MONDO:0016820 Moyamoya disease MONDO:0035862 Orphanet:2573 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome +MONDO:0016822 myalgia-eosinophilia syndrome associated with tryptophan MONDO:8000032 Orphanet:2582 Orphanet:377789 obsolete malformation syndrome +MONDO:0016823 mycetoma MONDO:0015575 Orphanet:2583 Orphanet:163582 obsolete rare bacterial infectious disease +MONDO:0016823 mycetoma MONDO:0015578 Orphanet:2583 Orphanet:163591 obsolete rare mycosis +MONDO:0016824 infantile myofibromatosis MONDO:0015950 Orphanet:2591 Orphanet:183487 obsolete inherited skin tumor +MONDO:0016824 infantile myofibromatosis MONDO:0016123 Orphanet:2591 Orphanet:206982 obsolete muscular tumor +MONDO:0016824 infantile myofibromatosis MONDO:0017127 Orphanet:2591 Orphanet:271832 obsolete inherited soft tissue tumor +MONDO:0016824 infantile myofibromatosis MONDO:0019099 Orphanet:2591 Orphanet:71209 obsolete rare soft tissue tumor +MONDO:0016824 infantile myofibromatosis MONDO:0019300 Orphanet:2591 Orphanet:79386 obsolete rare skin tumor or hamartoma +MONDO:0016825 mitochondrial myopathy-lactic acidosis-deafness syndrome MONDO:0016803 Orphanet:2597 Orphanet:254837 obsolete unspecified inborn mitochondrial disorder +MONDO:0016825 mitochondrial myopathy-lactic acidosis-deafness syndrome MONDO:0019589 Orphanet:2597 Orphanet:90642 obsolete syndromic genetic hearing loss +MONDO:0016826 methylmalonic aciduria and homocystinuria MONDO:0020109 Orphanet:26 Orphanet:98396 obsolete constitutional megaloblastic anemia due to vitamin B12 metabolism disorder +MONDO:0016826 methylmalonic aciduria and homocystinuria MONDO:0035862 Orphanet:26 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome +MONDO:0016829 familial visceral myopathy MONDO:0015184 Orphanet:2604 Orphanet:104009 obsolete rare disease involving intestinal motility +MONDO:0016830 Emery-Dreifuss muscular dystrophy MONDO:0016334 Orphanet:261 Orphanet:217610 obsolete neuromuscular disease with dilated cardiomyopathy +MONDO:0016830 Emery-Dreifuss muscular dystrophy MONDO:0035862 Orphanet:261 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome +MONDO:0016831 linear verrucous nevus syndrome MONDO:0017414 Orphanet:2611 Orphanet:294057 obsolete rare nevus +MONDO:0016832 distal 7q11.23 microduplication syndrome MONDO:8000032 Orphanet:261102 Orphanet:377789 obsolete malformation syndrome +MONDO:0016833 14q12 microdeletion syndrome MONDO:8000031 Orphanet:261144 Orphanet:557494 obsolete subtype of a disorder +MONDO:0016834 16p11.2p12.2 microduplication syndrome MONDO:8000032 Orphanet:261204 Orphanet:377789 obsolete malformation syndrome +MONDO:0016835 14q11.2 microduplication syndrome MONDO:8000032 Orphanet:261229 Orphanet:377789 obsolete malformation syndrome +MONDO:0016836 16p13.11 microdeletion syndrome MONDO:8000032 Orphanet:261236 Orphanet:377789 obsolete malformation syndrome +MONDO:0016837 16p13.11 microduplication syndrome MONDO:8000032 Orphanet:261243 Orphanet:377789 obsolete malformation syndrome +MONDO:0016838 16q24.3 microdeletion syndrome MONDO:8000032 Orphanet:261250 Orphanet:377789 obsolete malformation syndrome +MONDO:0016839 distal 17p13.3 microdeletion syndrome MONDO:8000032 Orphanet:261257 Orphanet:377789 obsolete malformation syndrome +MONDO:0016840 trisomy 17p MONDO:8000032 Orphanet:261290 Orphanet:377789 obsolete malformation syndrome +MONDO:0016841 20p12.3 microdeletion syndrome MONDO:8000032 Orphanet:261295 Orphanet:377789 obsolete malformation syndrome +MONDO:0016842 paternal 20q13.2q13.3 microdeletion syndrome MONDO:8000032 Orphanet:261304 Orphanet:377789 obsolete malformation syndrome +MONDO:0016843 20q13.33 microdeletion syndrome MONDO:8000032 Orphanet:261311 Orphanet:377789 obsolete malformation syndrome +MONDO:0016844 trisomy 20p MONDO:8000032 Orphanet:261318 Orphanet:377789 obsolete malformation syndrome +MONDO:0016845 21q22.11q22.12 microdeletion syndrome MONDO:0024147 Orphanet:261323 Orphanet:138047 obsolete Pierre Robin syndrome associated with a chromosomal anomaly +MONDO:0016845 21q22.11q22.12 microdeletion syndrome MONDO:0035863 Orphanet:261323 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0016845 21q22.11q22.12 microdeletion syndrome MONDO:8000032 Orphanet:261323 Orphanet:377789 obsolete malformation syndrome +MONDO:0016846 distal 22q11.2 microduplication syndrome MONDO:8000032 Orphanet:261337 Orphanet:377789 obsolete malformation syndrome +MONDO:0016847 trisomy 1q MONDO:8000032 Orphanet:261344 Orphanet:377789 obsolete malformation syndrome +MONDO:0016848 juvenile temporal arteritis MONDO:0015488 Orphanet:26137 Orphanet:156140 obsolete predominantly large-vessel vasculitis +MONDO:0016850 atypical Norrie disease due to monosomy Xp11.3 MONDO:8000032 Orphanet:261501 Orphanet:377789 obsolete malformation syndrome +MONDO:0016851 maternal uniparental disomy of chromosome X MONDO:0017011 Orphanet:261519 Orphanet:263793 obsolete uniparental disomy of chromosome X +MONDO:0016851 maternal uniparental disomy of chromosome X MONDO:8000032 Orphanet:261519 Orphanet:377789 obsolete malformation syndrome +MONDO:0016852 paternal uniparental disomy of chromosome X MONDO:0017011 Orphanet:261524 Orphanet:263793 obsolete uniparental disomy of chromosome X +MONDO:0016852 paternal uniparental disomy of chromosome X MONDO:8000032 Orphanet:261524 Orphanet:377789 obsolete malformation syndrome +MONDO:0016853 ring chromosome Y MONDO:0020061 Orphanet:261529 Orphanet:98158 obsolete chromosome Y structural anomaly +MONDO:0016853 ring chromosome Y MONDO:8000032 Orphanet:261529 Orphanet:377789 obsolete malformation syndrome +MONDO:0016854 49,XXXYY syndrome MONDO:0017006 Orphanet:261534 Orphanet:263749 obsolete X and Y chromosomal anomaly +MONDO:0016854 49,XXXYY syndrome MONDO:8000032 Orphanet:261534 Orphanet:377789 obsolete malformation syndrome +MONDO:0016855 Mowat-Wilson syndrome due to monosomy 2q22 MONDO:0015652 Orphanet:261537 Orphanet:166469 obsolete chromosomal anomaly with epilepsy as a major feature +MONDO:0016855 Mowat-Wilson syndrome due to monosomy 2q22 MONDO:8000031 Orphanet:261537 Orphanet:557494 obsolete subtype of a disorder +MONDO:0016856 Mowat-Wilson syndrome due to a ZEB2 point mutation MONDO:8000031 Orphanet:261552 Orphanet:557494 obsolete subtype of a disorder +MONDO:0016860 familial adenomatous polyposis due to 5q22.2 microdeletion MONDO:8000031 Orphanet:261584 Orphanet:557494 obsolete subtype of a disorder +MONDO:0016861 Alagille syndrome due to 20p12 microdeletion MONDO:8000031 Orphanet:261600 Orphanet:557494 obsolete subtype of a disorder +MONDO:0016862 Alagille syndrome due to a JAG1 point mutation MONDO:8000031 Orphanet:261619 Orphanet:557494 obsolete subtype of a disorder +MONDO:0016863 Okihiro syndrome due to 20q13 microdeletion MONDO:8000031 Orphanet:261638 Orphanet:557494 obsolete subtype of a disorder +MONDO:0016864 Okihiro syndrome due to a point mutation MONDO:8000031 Orphanet:261647 Orphanet:557494 obsolete subtype of a disorder +MONDO:0016865 Kleefstra syndrome due to a point mutation MONDO:8000031 Orphanet:261652 Orphanet:557494 obsolete subtype of a disorder +MONDO:0016866 partial deletion of chromosome 1 MONDO:0020054 Orphanet:261766 Orphanet:98142 obsolete partial autosomal monosomy +MONDO:0016867 partial deletion of chromosome 2 MONDO:0020054 Orphanet:261771 Orphanet:98142 obsolete partial autosomal monosomy +MONDO:0016868 partial deletion of chromosome 3 MONDO:0020054 Orphanet:261776 Orphanet:98142 obsolete partial autosomal monosomy +MONDO:0016869 partial deletion of chromosome 4 MONDO:0020054 Orphanet:261781 Orphanet:98142 obsolete partial autosomal monosomy +MONDO:0016870 partial deletion of chromosome 5 MONDO:0020054 Orphanet:261786 Orphanet:98142 obsolete partial autosomal monosomy +MONDO:0016871 partial deletion of chromosome 6 MONDO:0020054 Orphanet:261791 Orphanet:98142 obsolete partial autosomal monosomy +MONDO:0016872 partial deletion of chromosome 7 MONDO:0020054 Orphanet:261796 Orphanet:98142 obsolete partial autosomal monosomy +MONDO:0016873 partial deletion of chromosome 8 MONDO:0020054 Orphanet:261801 Orphanet:98142 obsolete partial autosomal monosomy +MONDO:0016874 partial deletion of chromosome 9 MONDO:0020054 Orphanet:261806 Orphanet:98142 obsolete partial autosomal monosomy +MONDO:0016875 partial deletion of chromosome 10 MONDO:0020054 Orphanet:261811 Orphanet:98142 obsolete partial autosomal monosomy +MONDO:0016876 partial deletion of chromosome 11 MONDO:0020054 Orphanet:261816 Orphanet:98142 obsolete partial autosomal monosomy +MONDO:0016878 partial deletion of chromosome 16 MONDO:0020054 Orphanet:261826 Orphanet:98142 obsolete partial autosomal monosomy +MONDO:0016879 partial deletion of chromosome 17 MONDO:0020054 Orphanet:261831 Orphanet:98142 obsolete partial autosomal monosomy +MONDO:0016880 partial deletion of chromosome 18 MONDO:0020054 Orphanet:261836 Orphanet:98142 obsolete partial autosomal monosomy +MONDO:0016881 partial deletion of chromosome 19 MONDO:0020054 Orphanet:261841 Orphanet:98142 obsolete partial autosomal monosomy +MONDO:0016882 partial deletion of chromosome 20 MONDO:0020054 Orphanet:261846 Orphanet:98142 obsolete partial autosomal monosomy +MONDO:0016891 obsolete partial deletion of the short arm of chromosome 9 MONDO:0016874 Orphanet:261929 Orphanet:261806 partial deletion of chromosome 9 +MONDO:0016899 obsolete Duchenne and Becker muscular dystrophy MONDO:0016106 Orphanet:262 Orphanet:206644 progressive muscular dystrophy +MONDO:0016899 obsolete Duchenne and Becker muscular dystrophy MONDO:0016334 Orphanet:262 Orphanet:217610 obsolete neuromuscular disease with dilated cardiomyopathy +MONDO:0016911 partial deletion of the long arm of chromosome 13 MONDO:0020054 Orphanet:262101 Orphanet:98142 obsolete partial autosomal monosomy +MONDO:0016912 partial deletion of the long arm of chromosome 14 MONDO:0020054 Orphanet:262110 Orphanet:98142 obsolete partial autosomal monosomy +MONDO:0016913 partial deletion of the long arm of chromosome 15 MONDO:0020054 Orphanet:262119 Orphanet:98142 obsolete partial autosomal monosomy +MONDO:0016919 partial deletion of the long arm of chromosome 21 MONDO:0020054 Orphanet:262173 Orphanet:98142 obsolete partial autosomal monosomy +MONDO:0016921 partial duplication of chromosome 1 MONDO:0020052 Orphanet:262191 Orphanet:98132 obsolete partial autosomal trisomy/tetrasomy +MONDO:0016922 partial duplication of chromosome 2 MONDO:0020052 Orphanet:262196 Orphanet:98132 obsolete partial autosomal trisomy/tetrasomy +MONDO:0016923 partial duplication of chromosome 3 MONDO:0020052 Orphanet:262201 Orphanet:98132 obsolete partial autosomal trisomy/tetrasomy +MONDO:0016924 partial duplication of chromosome 4 MONDO:0020052 Orphanet:262206 Orphanet:98132 obsolete partial autosomal trisomy/tetrasomy +MONDO:0016925 partial trisomy/tetrasomy of chromosome 5 MONDO:0020052 Orphanet:262211 Orphanet:98132 obsolete partial autosomal trisomy/tetrasomy +MONDO:0016927 partial duplication of chromosome 6 MONDO:0020052 Orphanet:262628 Orphanet:98132 obsolete partial autosomal trisomy/tetrasomy +MONDO:0016928 partial duplication of chromosome 7 MONDO:0020052 Orphanet:262633 Orphanet:98132 obsolete partial autosomal trisomy/tetrasomy +MONDO:0016929 partial duplication of chromosome 8 MONDO:0020052 Orphanet:262638 Orphanet:98132 obsolete partial autosomal trisomy/tetrasomy +MONDO:0016930 partial trisomy/tetrasomy of chromosome 9 MONDO:0020052 Orphanet:262643 Orphanet:98132 obsolete partial autosomal trisomy/tetrasomy +MONDO:0016931 partial duplication of chromosome 10 MONDO:0020052 Orphanet:262648 Orphanet:98132 obsolete partial autosomal trisomy/tetrasomy +MONDO:0016932 partial duplication of chromosome 11 MONDO:0020052 Orphanet:262653 Orphanet:98132 obsolete partial autosomal trisomy/tetrasomy +MONDO:0016933 partial trisomy/tetrasomy of the short arm of chromosome 12 MONDO:0020052 Orphanet:262658 Orphanet:98132 obsolete partial autosomal trisomy/tetrasomy +MONDO:0016934 partial duplication of chromosome 16 MONDO:0020052 Orphanet:262672 Orphanet:98132 obsolete partial autosomal trisomy/tetrasomy +MONDO:0016935 partial duplication of chromosome 17 MONDO:0020052 Orphanet:262677 Orphanet:98132 obsolete partial autosomal trisomy/tetrasomy +MONDO:0016936 partial trisomy/tetrasomy of chromosome 18 MONDO:0020052 Orphanet:262682 Orphanet:98132 obsolete partial autosomal trisomy/tetrasomy +MONDO:0016937 partial duplication of chromosome 19 MONDO:0020052 Orphanet:262687 Orphanet:98132 obsolete partial autosomal trisomy/tetrasomy +MONDO:0016938 partial trisomy of chromosome 20 MONDO:0020052 Orphanet:262692 Orphanet:98132 obsolete partial autosomal trisomy/tetrasomy +MONDO:0016964 partial duplication of the long arm of chromosome 14 MONDO:0020052 Orphanet:262941 Orphanet:98132 obsolete partial autosomal trisomy/tetrasomy +MONDO:0016965 partial duplication of the long arm of chromosome 15 MONDO:0020052 Orphanet:262950 Orphanet:98132 obsolete partial autosomal trisomy/tetrasomy +MONDO:0016972 partial duplication of the long arm of chromosome 22 MONDO:0020052 Orphanet:263004 Orphanet:98132 obsolete partial autosomal trisomy/tetrasomy +MONDO:0016974 thymoma type B MONDO:8000031 Orphanet:263317 Orphanet:557494 obsolete subtype of a disorder +MONDO:0016975 thymoma type AB MONDO:8000031 Orphanet:263324 Orphanet:557494 obsolete subtype of a disorder +MONDO:0016976 well-differentiated thymic neuroendocrine carcinoma MONDO:8000031 Orphanet:263331 Orphanet:557494 obsolete subtype of a disorder +MONDO:0016977 moderately-differentiated thymic neuroendocrine carcinoma MONDO:8000031 Orphanet:263335 Orphanet:557494 obsolete subtype of a disorder +MONDO:0016978 poorly differentiated thymic neuroendocrine carcinoma MONDO:8000031 Orphanet:263339 Orphanet:557494 obsolete subtype of a disorder +MONDO:0016979 MRCS syndrome MONDO:0020225 Orphanet:263347 Orphanet:98641 obsolete syndromic cataract +MONDO:0016979 MRCS syndrome MONDO:0020240 Orphanet:263347 Orphanet:98661 obsolete syndromic retinitis pigmentosa +MONDO:0016981 infantile spams-psychomotor retardation-progressive brain atrophy-basal ganglia disease syndrome MONDO:0035862 Orphanet:263410 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome +MONDO:0016982 angiosarcoma MONDO:0016228 Orphanet:263413 Orphanet:211237 obsolete rare vascular tumor +MONDO:0016984 nevus of Ota MONDO:0017414 Orphanet:263425 Orphanet:294057 obsolete rare nevus +MONDO:0016985 nevus of Ito MONDO:0017414 Orphanet:263432 Orphanet:294057 obsolete rare nevus +MONDO:0016986 congenital smooth muscle hamartoma MONDO:0019300 Orphanet:263435 Orphanet:79386 obsolete rare skin tumor or hamartoma +MONDO:0016987 neuroacanthocytosis MONDO:0017641 Orphanet:263440 Orphanet:306695 obsolete miscellaneous movement disorder due to neurodegenerative disease +MONDO:0016987 neuroacanthocytosis MONDO:0017662 Orphanet:263440 Orphanet:307058 obsolete miscellaneous movement disorder due to genetic neurodegenerative disease +MONDO:0016987 neuroacanthocytosis MONDO:0020136 Orphanet:263440 Orphanet:98534 obsolete neurodegenerative disease with dementia +MONDO:0016987 neuroacanthocytosis MONDO:0021037 Orphanet:263440 Orphanet:276058 obsolete genetic neurodegenerative disease with dementia +MONDO:0016990 acquired prothrombin deficiency MONDO:0015662 Orphanet:26348 Orphanet:166775 obsolete hemorrhagic disorder due to an acquired coagulation factor defect +MONDO:0016994 microcephalic osteodysplastic primordial dwarfism types I and III MONDO:0017950 Orphanet:2636 Orphanet:324761 obsolete microcephalic primordial dwarfism +MONDO:0016994 microcephalic osteodysplastic primordial dwarfism types I and III MONDO:0019699 Orphanet:2636 Orphanet:93440 obsolete slender bone dysplasia +MONDO:0016994 microcephalic osteodysplastic primordial dwarfism types I and III MONDO:0020222 Orphanet:2636 Orphanet:98638 obsolete rare disease with glaucoma as a major feature +MONDO:0016994 microcephalic osteodysplastic primordial dwarfism types I and III MONDO:8000032 Orphanet:2636 Orphanet:377789 obsolete malformation syndrome +MONDO:0016996 NK-cell enteropathy MONDO:0019997 Orphanet:263665 Orphanet:97935 obsolete rare gastroenterologic disease +MONDO:0016998 obsolete complex chromosomal rearrangement MONDO:0020049 Orphanet:263708 Orphanet:98127 autosomal anomaly +MONDO:0016999 obsolete X chromosome number anomaly MONDO:0020059 Orphanet:263714 Orphanet:98156 obsolete gonosome number anomaly +MONDO:0017000 obsolete X chromosome number anomaly with female phenotype MONDO:0016999 Orphanet:263717 Orphanet:263714 obsolete X chromosome number anomaly +MONDO:0017001 obsolete X chromosome number anomaly with male phenotype MONDO:0016999 Orphanet:263720 Orphanet:263714 obsolete X chromosome number anomaly +MONDO:0017002 obsolete polysomy of X chromosome MONDO:0017000 Orphanet:263723 Orphanet:263717 obsolete X chromosome number anomaly with female phenotype +MONDO:0017003 partial deletion of chromosome X MONDO:0020062 Orphanet:263726 Orphanet:98159 obsolete chromosome X structural anomaly +MONDO:0017005 obsolete Y chromosome number anomaly MONDO:0020059 Orphanet:263746 Orphanet:98156 obsolete gonosome number anomaly +MONDO:0017006 obsolete X and Y chromosomal anomaly MONDO:0020059 Orphanet:263749 Orphanet:98156 obsolete gonosome number anomaly +MONDO:0017008 partial duplication of chromosome X MONDO:0020062 Orphanet:263768 Orphanet:98159 obsolete chromosome X structural anomaly +MONDO:0017011 obsolete uniparental disomy of chromosome X MONDO:0020062 Orphanet:263793 Orphanet:98159 obsolete chromosome X structural anomaly +MONDO:0017013 trisomy 8p MONDO:8000032 Orphanet:264450 Orphanet:377789 obsolete malformation syndrome +MONDO:0017016 obsolete primary interstitial lung disease specific to childhood due to alveolar structure disorder MONDO:0017015 Orphanet:264670 Orphanet:264665 primary interstitial lung disease specific to childhood +MONDO:0017017 obsolete primary interstitial lung disease specific to childhood due to alveolar vascular disorder MONDO:0017015 Orphanet:264683 Orphanet:264665 primary interstitial lung disease specific to childhood +MONDO:0017018 isolated pulmonary capillaritis MONDO:0017017 Orphanet:264691 Orphanet:264683 obsolete primary interstitial lung disease specific to childhood due to alveolar vascular disorder +MONDO:0017020 obsolete secondary interstitial lung disease specific to childhood associated with a systemic disease MONDO:0017014 Orphanet:264699 Orphanet:264656 interstitial lung disease specific to childhood +MONDO:0017021 obsolete secondary interstitial lung disease specific to childhood associated with a connective tissue disease MONDO:0017020 Orphanet:264704 Orphanet:264699 obsolete secondary interstitial lung disease specific to childhood associated with a systemic disease +MONDO:0017022 obsolete secondary interstitial lung disease specific to childhood associated with a systemic vasculitis MONDO:0017020 Orphanet:264709 Orphanet:264699 obsolete secondary interstitial lung disease specific to childhood associated with a systemic disease +MONDO:0017023 obsolete secondary interstitial lung disease specific to childhood associated with a granulomatous disease MONDO:0017020 Orphanet:264714 Orphanet:264699 obsolete secondary interstitial lung disease specific to childhood associated with a systemic disease +MONDO:0017024 obsolete secondary interstitial lung disease specific to childhood associated with a metabolic disease MONDO:0017020 Orphanet:264719 Orphanet:264699 obsolete secondary interstitial lung disease specific to childhood associated with a systemic disease +MONDO:0017027 obsolete primary interstitial lung disease specific to adulthood MONDO:0017026 Orphanet:264740 Orphanet:264735 interstitial lung disease specific to adulthood +MONDO:0017028 obsolete secondary interstitial lung disease specific to adulthood associated with a systemic disease MONDO:0017026 Orphanet:264745 Orphanet:264735 interstitial lung disease specific to adulthood +MONDO:0017030 obsolete interstitial lung disease in childhood and adulthood MONDO:0015925 Orphanet:264757 Orphanet:182095 interstitial lung disease +MONDO:0017031 obsolete primary interstitial lung disease in childhood and adulthood MONDO:0017030 Orphanet:264762 Orphanet:264757 obsolete interstitial lung disease in childhood and adulthood +MONDO:0017032 obsolete primary interstitial lung disease in childhood and adulthood due to alveolar structure disorder MONDO:0017031 Orphanet:264930 Orphanet:264762 obsolete primary interstitial lung disease in childhood and adulthood +MONDO:0017033 obsolete primary interstitial lung disease in childhood and adulthood due to alveolar vascular disorder MONDO:0017031 Orphanet:264935 Orphanet:264762 obsolete primary interstitial lung disease in childhood and adulthood +MONDO:0017034 obsolete secondary interstitial lung disease in childhood and adulthood MONDO:0017030 Orphanet:264944 Orphanet:264757 obsolete interstitial lung disease in childhood and adulthood +MONDO:0017035 obsolete secondary interstitial lung disease in childhood and adulthood associated with a systemic disease MONDO:0017034 Orphanet:264949 Orphanet:264944 obsolete secondary interstitial lung disease in childhood and adulthood +MONDO:0017037 obsolete secondary interstitial lung disease in childhood and adulthood associated with a metabolic disease MONDO:0017035 Orphanet:264968 Orphanet:264949 obsolete secondary interstitial lung disease in childhood and adulthood associated with a systemic disease +MONDO:0017038 obsolete secondary interstitial lung disease in childhood and adulthood associated with a systemic vasculitis MONDO:0017035 Orphanet:264973 Orphanet:264949 obsolete secondary interstitial lung disease in childhood and adulthood associated with a systemic disease +MONDO:0017039 drug or radiation exposure-related interstitial lung disease MONDO:0017040 Orphanet:264978 Orphanet:264984 obsolete exposure-related interstitial lung disease +MONDO:0017039 drug or radiation exposure-related interstitial lung disease MONDO:0032014 Orphanet:264978 Orphanet:377793 obsolete particular clinical situation in a disease or syndrome +MONDO:0017040 obsolete exposure-related interstitial lung disease MONDO:0017034 Orphanet:264984 Orphanet:264944 obsolete secondary interstitial lung disease in childhood and adulthood +MONDO:0017041 osteochondrodysplatic nanism-deafness-retinitis pigmentosa syndrome MONDO:0019589 Orphanet:2653 Orphanet:90642 obsolete syndromic genetic hearing loss +MONDO:0017041 osteochondrodysplatic nanism-deafness-retinitis pigmentosa syndrome MONDO:0020240 Orphanet:2653 Orphanet:98661 obsolete syndromic retinitis pigmentosa +MONDO:0017041 osteochondrodysplatic nanism-deafness-retinitis pigmentosa syndrome MONDO:8000032 Orphanet:2653 Orphanet:377789 obsolete malformation syndrome +MONDO:0017042 thanatophoric dysplasia MONDO:0018232 Orphanet:2655 Orphanet:364536 obsolete primary bone dysplasia with micromelia +MONDO:0017043 congenital mesoblastic nephroma MONDO:0019749 Orphanet:2665 Orphanet:93619 obsolete rare renal tumor +MONDO:0017044 adult familial nephronophthisis-spastic quadriparesia syndrome MONDO:0022409 Orphanet:2666 Orphanet:156162 obsolete nephropathy-associated ciliopathy +MONDO:0017048 pseudomyxoma peritonei MONDO:0015682 Orphanet:26790 Orphanet:168803 obsolete primary peritoneal tumor +MONDO:0017049 obsolete hypomyelination neuropathy-arthrogryposis syndrome MONDO:0015168 Orphanet:2680 Orphanet:1037 arthrogryposis multiplex congenita +MONDO:0017049 obsolete hypomyelination neuropathy-arthrogryposis syndrome MONDO:8000032 Orphanet:2680 Orphanet:377789 obsolete malformation syndrome +MONDO:0017050 intraocular medulloepithelioma MONDO:0015121 Orphanet:268139 Orphanet:101950 obsolete rare eye tumor +MONDO:0017051 classic maple syrup urine disease MONDO:8000031 Orphanet:268145 Orphanet:557494 obsolete subtype of a disorder +MONDO:0017052 intermediate maple syrup urine disease MONDO:8000031 Orphanet:268162 Orphanet:557494 obsolete subtype of a disorder +MONDO:0017053 intermittent maple syrup urine disease MONDO:8000031 Orphanet:268173 Orphanet:557494 obsolete subtype of a disorder +MONDO:0017054 thiamine-responsive maple syrup urine disease MONDO:8000031 Orphanet:268184 Orphanet:557494 obsolete subtype of a disorder +MONDO:0017055 mycophenolate mofetil embryopathy MONDO:8000032 Orphanet:268249 Orphanet:377789 obsolete malformation syndrome +MONDO:0017056 DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion MONDO:8000031 Orphanet:268261 Orphanet:557494 obsolete subtype of a disorder MONDO:0017057 obsolete hereditary thrombocytopenia with normal platelets MONDO:0000001 Orphanet:268322 Orphanet:377788 disease +MONDO:0017057 obsolete hereditary thrombocytopenia with normal platelets MONDO:0018796 Orphanet:268322 Orphanet:477797 obsolete isolated constitutional thrombocytopenia +MONDO:0017059 obsolete neural tube closure defect MONDO:0018075 Orphanet:268357 Orphanet:3388 neural tube defect +MONDO:0017060 open iniencephaly MONDO:8000031 Orphanet:268363 Orphanet:557494 obsolete subtype of a disorder +MONDO:0017061 closed iniencephaly MONDO:8000031 Orphanet:268366 Orphanet:557494 obsolete subtype of a disorder +MONDO:0017076 posterior meningocele MONDO:8000030 Orphanet:268810 Orphanet:377791 obsolete morphological anomaly +MONDO:0017078 cephalocele MONDO:0017085 Orphanet:268817 Orphanet:268843 obsolete malformation of the neurenteric canal, spinal cord and column +MONDO:0017079 meningoencephalocele MONDO:8000030 Orphanet:268820 Orphanet:377791 obsolete morphological anomaly +MONDO:0017080 occipital encephalocele MONDO:8000031 Orphanet:268823 Orphanet:557494 obsolete subtype of a disorder +MONDO:0017081 parietal encephalocele MONDO:8000031 Orphanet:268826 Orphanet:557494 obsolete subtype of a disorder +MONDO:0017082 basal encephalocele MONDO:8000031 Orphanet:268829 Orphanet:557494 obsolete subtype of a disorder +MONDO:0017085 obsolete malformation of the neurenteric canal, spinal cord and column MONDO:0018075 Orphanet:268843 Orphanet:3388 neural tube defect +MONDO:0017086 primary tethered cord syndrome MONDO:0017085 Orphanet:268861 Orphanet:268843 obsolete malformation of the neurenteric canal, spinal cord and column +MONDO:0017086 primary tethered cord syndrome MONDO:8000030 Orphanet:268861 Orphanet:377791 obsolete morphological anomaly +MONDO:0017087 neurenteric cyst MONDO:0017085 Orphanet:268865 Orphanet:268843 obsolete malformation of the neurenteric canal, spinal cord and column +MONDO:0017087 neurenteric cyst MONDO:8000030 Orphanet:268865 Orphanet:377791 obsolete morphological anomaly +MONDO:0017088 isolated amyelia MONDO:0017085 Orphanet:268868 Orphanet:268843 obsolete malformation of the neurenteric canal, spinal cord and column +MONDO:0017088 isolated amyelia MONDO:8000030 Orphanet:268868 Orphanet:377791 obsolete morphological anomaly +MONDO:0017089 isolated megalencephaly MONDO:8000031 Orphanet:268920 Orphanet:557494 obsolete subtype of a disorder +MONDO:0017090 obsolete midline cerebral malformation MONDO:0016054 Orphanet:268926 Orphanet:199633 obsolete cerebral malformation +MONDO:0017090 obsolete midline cerebral malformation MONDO:0957008 Orphanet:268926 Orphanet:269553 hereditary cerebral malformation +MONDO:0017091 bilateral polymicrogyria MONDO:8000030 Orphanet:268940 Orphanet:377791 obsolete morphological anomaly +MONDO:0017092 unilateral polymicrogyria MONDO:8000030 Orphanet:268943 Orphanet:377791 obsolete morphological anomaly +MONDO:0017093 unilateral focal polymicrogyria MONDO:8000031 Orphanet:268947 Orphanet:557494 obsolete subtype of a disorder +MONDO:0017094 cerebral cortical dysplasia MONDO:0015572 Orphanet:268950 Orphanet:163209 obsolete cerebral malformation due to abnormal neuronal migration +MONDO:0017095 isolated focal cortical dysplasia type I MONDO:8000031 Orphanet:268961 Orphanet:557494 obsolete subtype of a disorder +MONDO:0017100 neutropenia-monocytopenia-deafness syndrome MONDO:0018032 Orphanet:2690 Orphanet:331184 obsolete constitutional neutropenia with extra-hematopoietic manifestations +MONDO:0017100 neutropenia-monocytopenia-deafness syndrome MONDO:0019589 Orphanet:2690 Orphanet:90642 obsolete syndromic genetic hearing loss +MONDO:0017103 encephaloclastic disorder MONDO:0016054 Orphanet:269190 Orphanet:199633 obsolete cerebral malformation +MONDO:0017104 obsolete central nervous system cystic malformation MONDO:0015219 Orphanet:269194 Orphanet:108989 obsolete non-syndromic central nervous system malformation +MONDO:0017105 glioependymal/ependymal cyst MONDO:0017104 Orphanet:269197 Orphanet:269194 obsolete central nervous system cystic malformation +MONDO:0017105 glioependymal/ependymal cyst MONDO:8000030 Orphanet:269197 Orphanet:377791 obsolete morphological anomaly +MONDO:0017107 isolated cerebellar vermis agenesis MONDO:0020130 Orphanet:269203 Orphanet:98514 obsolete malformation of the cerebellar vermis +MONDO:0017107 isolated cerebellar vermis agenesis MONDO:8000030 Orphanet:269203 Orphanet:377791 obsolete morphological anomaly +MONDO:0017108 isolated total cerebellar vermis agenesis MONDO:8000031 Orphanet:269206 Orphanet:557494 obsolete subtype of a disorder +MONDO:0017109 isolated partial cerebellar vermis agenesis MONDO:8000031 Orphanet:269209 Orphanet:557494 obsolete subtype of a disorder +MONDO:0017110 isolated Dandy-Walker malformation with hydrocephalus MONDO:8000031 Orphanet:269212 Orphanet:557494 obsolete subtype of a disorder +MONDO:0017111 isolated Dandy-Walker malformation without hydrocephalus MONDO:8000031 Orphanet:269215 Orphanet:557494 obsolete subtype of a disorder +MONDO:0017112 isolated unilateral hemispheric cerebellar hypoplasia MONDO:0020131 Orphanet:269218 Orphanet:98516 obsolete malformation of the cerebellar hemispheres +MONDO:0017112 isolated unilateral hemispheric cerebellar hypoplasia MONDO:8000030 Orphanet:269218 Orphanet:377791 obsolete morphological anomaly +MONDO:0017113 isolated bilateral hemispheric cerebellar hypoplasia MONDO:0020131 Orphanet:269221 Orphanet:98516 obsolete malformation of the cerebellar hemispheres +MONDO:0017113 isolated bilateral hemispheric cerebellar hypoplasia MONDO:8000030 Orphanet:269221 Orphanet:377791 obsolete morphological anomaly +MONDO:0017114 obsolete global cerebellar malformation MONDO:0015915 Orphanet:269224 Orphanet:182061 obsolete cerebellar malformation +MONDO:0017116 congenital communicating hydrocephalus MONDO:8000031 Orphanet:269505 Orphanet:557494 obsolete subtype of a disorder +MONDO:0017117 congenital non-communicating hydrocephalus MONDO:8000031 Orphanet:269510 Orphanet:557494 obsolete subtype of a disorder +MONDO:0017118 obsolete syndrome with a cerebellar malformation as major feature MONDO:0015220 Orphanet:269523 Orphanet:108991 obsolete syndrome with a central nervous system malformation as major feature +MONDO:0017119 obsolete syndrome with microcephaly as major feature MONDO:0015220 Orphanet:269528 Orphanet:108991 obsolete syndrome with a central nervous system malformation as major feature +MONDO:0017120 obsolete other syndrome with a central nervous system malformation as major feature MONDO:0015220 Orphanet:269531 Orphanet:108991 obsolete syndrome with a central nervous system malformation as major feature +MONDO:0017121 obsolete syndrome with a Dandy-Walker malformation as major feature MONDO:0017118 Orphanet:269546 Orphanet:269523 obsolete syndrome with a cerebellar malformation as major feature +MONDO:0017123 arthrogryposis-renal dysfunction-cholestasis syndrome MONDO:0015116 Orphanet:2697 Orphanet:101941 obsolete rare biliary tract disease +MONDO:0017123 arthrogryposis-renal dysfunction-cholestasis syndrome MONDO:0015509 Orphanet:2697 Orphanet:156607 obsolete hereditary biliary tract disease +MONDO:0017123 arthrogryposis-renal dysfunction-cholestasis syndrome MONDO:0017273 Orphanet:2697 Orphanet:281241 obsolete autosomal ichthyosis syndrome with fatal disease course +MONDO:0017123 arthrogryposis-renal dysfunction-cholestasis syndrome MONDO:0019721 Orphanet:2697 Orphanet:93547 obsolete syndromic renal or urinary tract malformation +MONDO:0017123 arthrogryposis-renal dysfunction-cholestasis syndrome MONDO:8000032 Orphanet:2697 Orphanet:377789 obsolete malformation syndrome +MONDO:0017124 noma MONDO:0015575 Orphanet:2700 Orphanet:163582 obsolete rare bacterial infectious disease +MONDO:0017127 obsolete inherited soft tissue tumor MONDO:0019041 Orphanet:271832 Orphanet:68336 obsolete rare genetic inherited tumor +MONDO:0017128 obsolete inherited digestive tract tumor MONDO:0019041 Orphanet:271835 Orphanet:68336 obsolete rare genetic inherited tumor +MONDO:0017129 obsolete inherited cardiac tumor MONDO:0019041 Orphanet:271841 Orphanet:68336 obsolete rare genetic inherited tumor +MONDO:0017130 obsolete genetic urogenital tumor MONDO:0019041 Orphanet:271844 Orphanet:68336 obsolete rare genetic inherited tumor +MONDO:0017131 obsolete hereditary cardiac anomaly MONDO:0015960 Orphanet:271853 Orphanet:183530 obsolete rare genetic developmental defect during embryogenesis +MONDO:0017132 obsolete hereditary ATTR amyloidosis MONDO:0016340 Orphanet:271861 Orphanet:217635 familial restrictive cardiomyopathy +MONDO:0017132 obsolete hereditary ATTR amyloidosis MONDO:0018634 Orphanet:271861 Orphanet:444116 hereditary amyloidosis +MONDO:0017132 obsolete hereditary ATTR amyloidosis MONDO:0019065 Orphanet:271861 Orphanet:69 amyloidosis +MONDO:0017134 odonto-onycho dysplasia-alopecia syndrome MONDO:0015336 Orphanet:2722 Orphanet:139042 obsolete malformation syndrome with odontal and/or periodontal component +MONDO:0017134 odonto-onycho dysplasia-alopecia syndrome MONDO:0026190 Orphanet:2722 Orphanet:183580 obsolete genetic malformation syndrome with odontal and/or periodontal component +MONDO:0017134 odonto-onycho dysplasia-alopecia syndrome MONDO:8000032 Orphanet:2722 Orphanet:377789 obsolete malformation syndrome +MONDO:0017135 olivopontocerebellar atrophy-deafness syndrome MONDO:0019589 Orphanet:2732 Orphanet:90642 obsolete syndromic genetic hearing loss +MONDO:0017135 olivopontocerebellar atrophy-deafness syndrome MONDO:8000032 Orphanet:2732 Orphanet:377789 obsolete malformation syndrome +MONDO:0017136 omodysplasia MONDO:0019697 Orphanet:2733 Orphanet:93438 obsolete mesomelic and rhizo-mesomelic dysplasia +MONDO:0017136 omodysplasia MONDO:8000032 Orphanet:2733 Orphanet:377789 obsolete malformation syndrome +MONDO:0017138 Opitz G/BBB syndrome MONDO:0015222 Orphanet:2745 Orphanet:108995 obsolete syndromic respiratory or mediastinal malformation +MONDO:0017138 Opitz G/BBB syndrome MONDO:0015246 Orphanet:2745 Orphanet:117573 obsolete syndromic anorectal malformation +MONDO:0017138 Opitz G/BBB syndrome MONDO:0015620 Orphanet:2745 Orphanet:165707 obsolete syndromic urogenital tract malformation +MONDO:0017138 Opitz G/BBB syndrome MONDO:0035863 Orphanet:2745 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0017138 Opitz G/BBB syndrome MONDO:8000032 Orphanet:2745 Orphanet:377789 obsolete malformation syndrome +MONDO:0017139 oromandibular-limb hypogenesis syndrome MONDO:0018236 Orphanet:2749 Orphanet:364571 obsolete dysostosis with limb and face anomalies as a major feature +MONDO:0017140 L1 syndrome MONDO:0016055 Orphanet:275543 Orphanet:199639 obsolete syndrome with corpus callosum agenesis /dysgenesis as a major feature +MONDO:0017140 L1 syndrome MONDO:0017122 Orphanet:275543 Orphanet:269573 obsolete genetic syndrome with corpus callosum agenesis/dysgenesis as a major feature +MONDO:0017140 L1 syndrome MONDO:0035862 Orphanet:275543 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome +MONDO:0017140 L1 syndrome MONDO:8000032 Orphanet:275543 Orphanet:377789 obsolete malformation syndrome +MONDO:0017141 obsolete hemorrhagic disorder due to a constitutional thrombocytopenia MONDO:0019097 Orphanet:275729 Orphanet:71202 obsolete hemorrhagic disorder due to a constitutional platelet anomaly +MONDO:0017142 obsolete hemorrhagic disorder due to a qualitative platelet defect MONDO:0019097 Orphanet:275736 Orphanet:71202 obsolete hemorrhagic disorder due to a constitutional platelet anomaly +MONDO:0017143 obsolete genetic infertility MONDO:0021198 Orphanet:275742 Orphanet:98053 obsolete rare genetic disease +MONDO:0017144 obsolete alpha-thalassemia and related diseases MONDO:0019050 Orphanet:275745 Orphanet:68364 inherited hemoglobinopathy +MONDO:0017144 obsolete alpha-thalassemia and related diseases MONDO:0034039 Orphanet:275745 Orphanet:466066 obsolete genetic hemoglobinopathy +MONDO:0017145 beta-thalassemia and related diseases MONDO:0034039 Orphanet:275749 Orphanet:466066 obsolete genetic hemoglobinopathy +MONDO:0017146 obsolete sickle cell disease and related diseases MONDO:0019050 Orphanet:275752 Orphanet:68364 inherited hemoglobinopathy +MONDO:0017146 obsolete sickle cell disease and related diseases MONDO:0034039 Orphanet:275752 Orphanet:466066 obsolete genetic hemoglobinopathy +MONDO:0017147 idiopathic pulmonary arterial hypertension MONDO:0008347 Orphanet:275766 Orphanet:422 obsolete idiopathic and/or familial pulmonary arterial hypertension +MONDO:0017147 idiopathic pulmonary arterial hypertension MONDO:8000031 Orphanet:275766 Orphanet:557494 obsolete subtype of a disorder +MONDO:0017148 heritable pulmonary arterial hypertension MONDO:0008347 Orphanet:275777 Orphanet:422 obsolete idiopathic and/or familial pulmonary arterial hypertension +MONDO:0017148 heritable pulmonary arterial hypertension MONDO:8000031 Orphanet:275777 Orphanet:557494 obsolete subtype of a disorder +MONDO:0017150 obsolete pulmonary arterial hypertension associated with another disease MONDO:0015924 Orphanet:275791 Orphanet:182090 pulmonary arterial hypertension +MONDO:0017151 obsolete pulmonary arterial hypertension associated with connective tissue disease MONDO:0017150 Orphanet:275798 Orphanet:275791 obsolete pulmonary arterial hypertension associated with another disease +MONDO:0017152 obsolete pulmonary arterial hypertension associated with congenital heart disease MONDO:0017150 Orphanet:275803 Orphanet:275791 obsolete pulmonary arterial hypertension associated with another disease +MONDO:0017153 obsolete pulmonary arterial hypertension associated with HIV infection MONDO:0017150 Orphanet:275808 Orphanet:275791 obsolete pulmonary arterial hypertension associated with another disease +MONDO:0017154 obsolete pulmonary arterial hypertension associated with portal hypertension MONDO:0017150 Orphanet:275813 Orphanet:275791 obsolete pulmonary arterial hypertension associated with another disease +MONDO:0017155 obsolete pulmonary arterial hypertension associated with schistosomiasis MONDO:0017150 Orphanet:275823 Orphanet:275791 obsolete pulmonary arterial hypertension associated with another disease +MONDO:0017156 obsolete pulmonary arterial hypertension associated with chronic hemolytic anemia MONDO:0017150 Orphanet:275828 Orphanet:275791 obsolete pulmonary arterial hypertension associated with another disease +MONDO:0017157 pulmonary hypertension owing to lung disease and/or hypoxia MONDO:0019096 Orphanet:275837 Orphanet:71198 obsolete rare pulmonary hypertension +MONDO:0017158 obsolete pulmonary hypertension with unclear multifactorial mechanism MONDO:0019096 Orphanet:275844 Orphanet:71198 obsolete rare pulmonary hypertension +MONDO:0017159 obsolete syndrome with pulmonary hypertension as a major feature MONDO:0019096 Orphanet:275853 Orphanet:71198 obsolete rare pulmonary hypertension +MONDO:0017160 behavioral variant of frontotemporal dementia MONDO:0017643 Orphanet:275864 Orphanet:306708 obsolete frontotemporal neurodegeneration with movement disorder +MONDO:0017161 frontotemporal dementia with motor neuron disease MONDO:0017643 Orphanet:275872 Orphanet:306708 obsolete frontotemporal neurodegeneration with movement disorder +MONDO:0017161 frontotemporal dementia with motor neuron disease MONDO:0020137 Orphanet:275872 Orphanet:98535 obsolete frontotemporal degeneration with dementia +MONDO:0017161 frontotemporal dementia with motor neuron disease MONDO:0028868 Orphanet:275872 Orphanet:276061 obsolete genetic frontotemporal degeneration with dementia +MONDO:0017162 imperforate oropharynx-costo vetebral anomalies syndrome MONDO:0019711 Orphanet:2759 Orphanet:93454 obsolete dysostosis with predominant vertebral and costal involvement +MONDO:0017162 imperforate oropharynx-costo vetebral anomalies syndrome MONDO:8000032 Orphanet:2759 Orphanet:377789 obsolete malformation syndrome +MONDO:0017163 obsolete hemolytic disease due to fetomaternal alloimmunization MONDO:0015911 Orphanet:275938 Orphanet:182047 obsolete rare acquired hemolytic anemia +MONDO:0017164 hemolytic disease of the newborn with Kell alloimmunization MONDO:0017163 Orphanet:275944 Orphanet:275938 obsolete hemolytic disease due to fetomaternal alloimmunization +MONDO:0017165 bile acid CoA ligase deficiency and defective amidation MONDO:0015581 Orphanet:276066 Orphanet:163631 obsolete bile acid synthesis defect with cholestasis and malabsorption +MONDO:0017166 obsolete rare tumor of salivary glands MONDO:0017371 Orphanet:276142 Orphanet:290849 obsolete rare head and neck tumor +MONDO:0017166 obsolete rare tumor of salivary glands MONDO:0019997 Orphanet:276142 Orphanet:97935 obsolete rare gastroenterologic disease +MONDO:0017166 obsolete rare tumor of salivary glands MONDO:0020033 Orphanet:276142 Orphanet:98059 obsolete rare digestive tumor +MONDO:0017167 malignant epithelial tumor of salivary glands MONDO:0017166 Orphanet:276145 Orphanet:276142 obsolete rare tumor of salivary glands +MONDO:0017168 benign epithelial tumor of salivary glands MONDO:0017166 Orphanet:276148 Orphanet:276142 obsolete rare tumor of salivary glands +MONDO:0017170 idiopathic recurrent stupor MONDO:0020009 Orphanet:276174 Orphanet:98006 obsolete rare neurologic disease +MONDO:0017171 mucopolysaccharidosis type 6, rapidly progressing MONDO:8000031 Orphanet:276212 Orphanet:557494 obsolete subtype of a disorder +MONDO:0017172 mucopolysaccharidosis type 6, slowly progressing MONDO:8000031 Orphanet:276223 Orphanet:557494 obsolete subtype of a disorder MONDO:0017173 obsolete non-syndromic male infertility due to sperm motility disorder MONDO:0000001 Orphanet:276234 Orphanet:377788 disease -MONDO:0017240 obsolete acrodysostosis with multiple hormone resistance MONDO:0000001 Orphanet:280651 Orphanet:377788 disease +MONDO:0017173 obsolete non-syndromic male infertility due to sperm motility disorder MONDO:0018395 Orphanet:276234 Orphanet:399813 obsolete male infertility due to sperm motility disorder +MONDO:0017174 Machado-Joseph disease type 1 MONDO:8000031 Orphanet:276238 Orphanet:557494 obsolete subtype of a disorder +MONDO:0017175 Machado-Joseph disease type 2 MONDO:8000031 Orphanet:276241 Orphanet:557494 obsolete subtype of a disorder +MONDO:0017176 Machado-Joseph disease type 3 MONDO:8000031 Orphanet:276244 Orphanet:557494 obsolete subtype of a disorder +MONDO:0017177 hemihyperplasia-multiple lipomatosis syndrome MONDO:0015501 Orphanet:276280 Orphanet:156237 obsolete syndrome or malformation associated with head and neck malformations +MONDO:0017177 hemihyperplasia-multiple lipomatosis syndrome MONDO:0015950 Orphanet:276280 Orphanet:183487 obsolete inherited skin tumor +MONDO:0017177 hemihyperplasia-multiple lipomatosis syndrome MONDO:0018719 Orphanet:276280 Orphanet:458830 obsolete obsolete rare capillary malformation with associated anomalies +MONDO:0017177 hemihyperplasia-multiple lipomatosis syndrome MONDO:0019300 Orphanet:276280 Orphanet:79386 obsolete rare skin tumor or hamartoma +MONDO:0017177 hemihyperplasia-multiple lipomatosis syndrome MONDO:0020063 Orphanet:276280 Orphanet:98196 obsolete malformation syndrome with hamartosis +MONDO:0017177 hemihyperplasia-multiple lipomatosis syndrome MONDO:0035162 Orphanet:276280 Orphanet:530313 obsolete PIK3CA-related overgrowth syndrome +MONDO:0017177 hemihyperplasia-multiple lipomatosis syndrome MONDO:8000032 Orphanet:276280 Orphanet:377789 obsolete malformation syndrome +MONDO:0017180 10q22.3q23.3 microduplication syndrome MONDO:8000032 Orphanet:276422 Orphanet:377789 obsolete malformation syndrome +MONDO:0017181 hypnic headache MONDO:0020011 Orphanet:276429 Orphanet:98022 obsolete rare headache disorder +MONDO:0017182 familial hyperinsulinism MONDO:0015513 Orphanet:276525 Orphanet:156638 obsolete rare genetic endocrine disease +MONDO:0017193 symptomatic form of Coffin-Lowry syndrome in female carriers MONDO:0016565 Orphanet:276630 Orphanet:240371 obsolete syndromic genetic obesity +MONDO:0017193 symptomatic form of Coffin-Lowry syndrome in female carriers MONDO:0035863 Orphanet:276630 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0017193 symptomatic form of Coffin-Lowry syndrome in female carriers MONDO:8000032 Orphanet:276630 Orphanet:377789 obsolete malformation syndrome +MONDO:0017194 Blount disease MONDO:8000032 Orphanet:2768 Orphanet:377789 obsolete malformation syndrome +MONDO:0017195 Bruck syndrome MONDO:0015669 Orphanet:2771 Orphanet:167762 obsolete rare disease with dentinogenesis imperfecta +MONDO:0017195 Bruck syndrome MONDO:0019704 Orphanet:2771 Orphanet:93446 obsolete primary bone dysplasia with decreased bone density +MONDO:0017195 Bruck syndrome MONDO:8000032 Orphanet:2771 Orphanet:377789 obsolete malformation syndrome +MONDO:0017196 osteogenesis imperfecta-retinopathy-seizures-intellectual disability syndrome MONDO:0019704 Orphanet:2773 Orphanet:93446 obsolete primary bone dysplasia with decreased bone density +MONDO:0017196 osteogenesis imperfecta-retinopathy-seizures-intellectual disability syndrome MONDO:0035863 Orphanet:2773 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0017196 osteogenesis imperfecta-retinopathy-seizures-intellectual disability syndrome MONDO:8000032 Orphanet:2773 Orphanet:377789 obsolete malformation syndrome +MONDO:0017197 osteopathia striata-pigmentary dermopathy-white forelock syndrome MONDO:0800084 Orphanet:2779 Orphanet:93444 obsolete primary bone dysplasia with increased bone density +MONDO:0017197 osteopathia striata-pigmentary dermopathy-white forelock syndrome MONDO:8000032 Orphanet:2779 Orphanet:377789 obsolete malformation syndrome +MONDO:0017198 osteopetrosis MONDO:0800084 Orphanet:2781 Orphanet:93444 obsolete primary bone dysplasia with increased bone density +MONDO:0017199 osteoporosis-macrocephaly-blindness-joint hyperlaxity syndrome MONDO:0019704 Orphanet:2787 Orphanet:93446 obsolete primary bone dysplasia with decreased bone density +MONDO:0017199 osteoporosis-macrocephaly-blindness-joint hyperlaxity syndrome MONDO:8000032 Orphanet:2787 Orphanet:377789 obsolete malformation syndrome +MONDO:0017200 polycystic ovaries-urethral sphincter dysfunction syndrome MONDO:0015106 Orphanet:2795 Orphanet:101433 obsolete rare urogenital disease +MONDO:0017201 Spasmus nutans MONDO:0032013 Orphanet:279882 Orphanet:377792 obsolete clinical syndrome +MONDO:0017201 Spasmus nutans MONDO:0034961 Orphanet:279882 Orphanet:519341 obsolete rare brainstem or cerebellar disorder with ophthalmic involvement as a major feature +MONDO:0017202 acute endophthalmitis MONDO:8000031 Orphanet:279888 Orphanet:557494 obsolete subtype of a disorder +MONDO:0017203 chronic endophthalmitis MONDO:8000031 Orphanet:279891 Orphanet:557494 obsolete subtype of a disorder +MONDO:0017205 primary oculocerebral lymphoma MONDO:0015121 Orphanet:279897 Orphanet:101950 obsolete rare eye tumor +MONDO:0017205 primary oculocerebral lymphoma MONDO:0020036 Orphanet:279897 Orphanet:98062 obsolete rare nervous system tumor +MONDO:0017212 paraneoplastic uveitis MONDO:0019541 Orphanet:279928 Orphanet:90061 obsolete non-infectious posterior uveitis +MONDO:0017213 postorgasmic illness syndrome MONDO:0032013 Orphanet:279947 Orphanet:377792 obsolete clinical syndrome +MONDO:0017214 vitamin B12-responsive methylmalonic acidemia MONDO:0017390 Orphanet:28 Orphanet:293355 obsolete methylmalonic acidemia without homocystinuria +MONDO:0017214 vitamin B12-responsive methylmalonic acidemia MONDO:0019743 Orphanet:28 Orphanet:93593 obsolete nephropathy secondary to a storage or other metabolic disease +MONDO:0017215 calciphylaxis MONDO:0024471 Orphanet:280062 Orphanet:496924 obsolete non-inflammatory vasculopathy +MONDO:0017216 calciphylaxis cutis MONDO:8000031 Orphanet:280065 Orphanet:557494 obsolete subtype of a disorder +MONDO:0017217 visceral calciphylaxis MONDO:8000031 Orphanet:280068 Orphanet:557494 obsolete subtype of a disorder +MONDO:0017218 obsolete septopreoptic holoprosencephaly MONDO:0016296 Orphanet:280195 Orphanet:2162 holoprosencephaly +MONDO:0017218 obsolete septopreoptic holoprosencephaly MONDO:8000031 Orphanet:280195 Orphanet:557494 obsolete subtype of a disorder +MONDO:0017219 microform holoprosencephaly MONDO:0017090 Orphanet:280200 Orphanet:268926 obsolete midline cerebral malformation +MONDO:0017219 microform holoprosencephaly MONDO:8000032 Orphanet:280200 Orphanet:377789 obsolete malformation syndrome +MONDO:0017220 laryngotracheoesophageal cleft type 0 MONDO:8000031 Orphanet:280205 Orphanet:557494 obsolete subtype of a disorder +MONDO:0017221 Pelizaeus-Merzbacher disease, connatal form MONDO:8000031 Orphanet:280210 Orphanet:557494 obsolete subtype of a disorder +MONDO:0017222 Pelizaeus-Merzbacher disease, classic form MONDO:8000031 Orphanet:280219 Orphanet:557494 obsolete subtype of a disorder +MONDO:0017223 Pelizaeus-Merzbacher disease, transitional form MONDO:8000031 Orphanet:280224 Orphanet:557494 obsolete subtype of a disorder +MONDO:0017224 Pelizaeus-Merzbacher disease in female carriers MONDO:8000031 Orphanet:280229 Orphanet:557494 obsolete subtype of a disorder +MONDO:0017225 null syndrome MONDO:8000031 Orphanet:280234 Orphanet:557494 obsolete subtype of a disorder +MONDO:0017227 autoimmune pancreatitis type 1 MONDO:8000031 Orphanet:280302 Orphanet:557494 obsolete subtype of a disorder +MONDO:0017229 distal monosomy 12p MONDO:8000032 Orphanet:280325 Orphanet:377789 obsolete malformation syndrome +MONDO:0017230 autosomal semi-dominant severe lipodystrophic laminopathy MONDO:0015885 Orphanet:280365 Orphanet:181368 obsolete rare insulin-resistance syndrome +MONDO:0017230 autosomal semi-dominant severe lipodystrophic laminopathy MONDO:0029812 Orphanet:280365 Orphanet:300763 obsolete laminopathy with lipodystrophy +MONDO:0017232 recessive intellectual disability-motor dysfunction-multiple joint contractures syndrome MONDO:0035862 Orphanet:280384 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome +MONDO:0017233 familial Alzheimer-like prion disease MONDO:0017234 Orphanet:280397 Orphanet:280400 obsolete inherited prion disease +MONDO:0017234 obsolete inherited prion disease MONDO:0018926 Orphanet:280400 Orphanet:56970 human prion disease +MONDO:0017234 obsolete inherited prion disease MONDO:0021037 Orphanet:280400 Orphanet:276058 obsolete genetic neurodegenerative disease with dementia +MONDO:0017235 familial omphalocele syndrome with facial dysmorphism MONDO:0015216 Orphanet:280403 Orphanet:108979 obsolete syndromic diaphragmatic or abdominal wall malformation +MONDO:0017235 familial omphalocele syndrome with facial dysmorphism MONDO:0015960 Orphanet:280403 Orphanet:183530 obsolete rare genetic developmental defect during embryogenesis +MONDO:0017235 familial omphalocele syndrome with facial dysmorphism MONDO:8000032 Orphanet:280403 Orphanet:377789 obsolete malformation syndrome +MONDO:0017237 hereditary sensorimotor neuropathy with hyperelastic skin MONDO:0015359 Orphanet:280598 Orphanet:140453 obsolete autosomal dominant hereditary demyelinating motor and sensory neuropathy +MONDO:0017238 hemoglobinopathy Toms River MONDO:0034039 Orphanet:280615 Orphanet:466066 obsolete genetic hemoglobinopathy +MONDO:0017239 familial progressive hyper- and hypopigmentation MONDO:0026157 Orphanet:280628 Orphanet:183463 obsolete genetic pigmentation anomaly of the skin MONDO:0017241 obsolete AP4-related intellectual disability and spastic paraplegia MONDO:0000001 Orphanet:280763 Orphanet:377788 disease +MONDO:0017241 obsolete AP4-related intellectual disability and spastic paraplegia MONDO:0015089 Orphanet:280763 Orphanet:100981 obsolete autosomal recessive complex spastic paraplegia +MONDO:0017241 obsolete AP4-related intellectual disability and spastic paraplegia MONDO:0035862 Orphanet:280763 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome +MONDO:0017243 bullous diffuse cutaneous mastocytosis MONDO:8000031 Orphanet:280785 Orphanet:557494 obsolete subtype of a disorder +MONDO:0017244 pseudoxanthomatous diffuse cutaneous mastocytosis MONDO:8000031 Orphanet:280794 Orphanet:557494 obsolete subtype of a disorder +MONDO:0017245 intralobar congenital pulmonary sequestration MONDO:8000031 Orphanet:280802 Orphanet:557494 obsolete subtype of a disorder +MONDO:0017246 extralobar congenital pulmonary sequestration MONDO:8000031 Orphanet:280811 Orphanet:557494 obsolete subtype of a disorder +MONDO:0017247 communicating congenital bronchopulmonary-foregut malformation MONDO:8000031 Orphanet:280821 Orphanet:557494 obsolete subtype of a disorder +MONDO:0017248 congenital pulmonary airway malformation type 0 MONDO:8000031 Orphanet:280827 Orphanet:557494 obsolete subtype of a disorder +MONDO:0017249 congenital pulmonary airway malformation type 1 MONDO:8000031 Orphanet:280832 Orphanet:557494 obsolete subtype of a disorder +MONDO:0017250 congenital pulmonary airway malformation type 2 MONDO:8000031 Orphanet:280840 Orphanet:557494 obsolete subtype of a disorder +MONDO:0017251 congenital pulmonary airway malformation type 3 MONDO:8000031 Orphanet:280847 Orphanet:557494 obsolete subtype of a disorder +MONDO:0017252 congenital pulmonary airway malformation type 4 MONDO:8000031 Orphanet:280854 Orphanet:557494 obsolete subtype of a disorder +MONDO:0017257 idiopathic posterior uveitis MONDO:0019541 Orphanet:280917 Orphanet:90061 obsolete non-infectious posterior uveitis +MONDO:0017259 obsolete systemic diseases with anterior uveitis MONDO:0006651 Orphanet:280926 Orphanet:280886 anterior uveitis +MONDO:0017260 obsolete systemic diseases with posterior uveitis MONDO:0001280 Orphanet:280930 Orphanet:280892 choroiditis +MONDO:0017261 obsolete systemic diseases with panuveitis MONDO:0017255 Orphanet:280933 Orphanet:280898 panuveitis +MONDO:0017262 obsolete inherited non-syndromic ichthyosis MONDO:0015947 Orphanet:281082 Orphanet:183435 inherited ichthyosis +MONDO:0017263 obsolete inherited ichthyosis syndromic form MONDO:0015947 Orphanet:281085 Orphanet:183435 inherited ichthyosis +MONDO:0017265 autosomal recessive congenital ichthyosis MONDO:0017262 Orphanet:281097 Orphanet:281082 obsolete inherited non-syndromic ichthyosis +MONDO:0017265 autosomal recessive congenital ichthyosis MONDO:0020162 Orphanet:281097 Orphanet:98571 obsolete secondary ectropion +MONDO:0017266 keratinopathic ichthyosis MONDO:0017262 Orphanet:281103 Orphanet:281082 obsolete inherited non-syndromic ichthyosis +MONDO:0017269 X-linked ichthyosis syndrome MONDO:0017263 Orphanet:281210 Orphanet:281085 obsolete inherited ichthyosis syndromic form +MONDO:0017270 obsolete autosomal ichthyosis syndrome MONDO:0017263 Orphanet:281217 Orphanet:281085 obsolete inherited ichthyosis syndromic form +MONDO:0017271 obsolete autosomal ichthyosis syndrome with prominent hair abnormalities MONDO:0017270 Orphanet:281222 Orphanet:281217 obsolete autosomal ichthyosis syndrome +MONDO:0017272 obsolete autosomal ichthyosis syndrome with prominent neurologics signs MONDO:0017270 Orphanet:281238 Orphanet:281217 obsolete autosomal ichthyosis syndrome +MONDO:0017273 obsolete autosomal ichthyosis syndrome with fatal disease course MONDO:0017270 Orphanet:281241 Orphanet:281217 obsolete autosomal ichthyosis syndrome +MONDO:0017275 spastic paraplegia-facial-cutaneous lesions syndrome MONDO:8000032 Orphanet:2819 Orphanet:377789 obsolete malformation syndrome +MONDO:0017276 frontotemporal dementia MONDO:0020137 Orphanet:282 Orphanet:98535 obsolete frontotemporal degeneration with dementia +MONDO:0017276 frontotemporal dementia MONDO:0028868 Orphanet:282 Orphanet:276061 obsolete genetic frontotemporal degeneration with dementia +MONDO:0017277 partial deletion of chromosome 12 MONDO:0020054 Orphanet:282124 Orphanet:98142 obsolete partial autosomal monosomy +MONDO:0017279 young-onset Parkinson disease MONDO:0017635 Orphanet:2828 Orphanet:306666 obsolete parkinsonian syndrome due to neurodegenerative disease +MONDO:0017279 young-onset Parkinson disease MONDO:0017661 Orphanet:2828 Orphanet:307055 obsolete rare parkinsonian syndrome due to genetic neurodegenerative disease +MONDO:0017280 demodicidosis MONDO:0015577 Orphanet:283 Orphanet:163588 obsolete rare parasitic disease +MONDO:0017281 renal caliceal diverticuli-deafness syndrome MONDO:0019589 Orphanet:2838 Orphanet:90642 obsolete syndromic genetic hearing loss +MONDO:0017281 renal caliceal diverticuli-deafness syndrome MONDO:0019721 Orphanet:2838 Orphanet:93547 obsolete syndromic renal or urinary tract malformation +MONDO:0017281 renal caliceal diverticuli-deafness syndrome MONDO:8000032 Orphanet:2838 Orphanet:377789 obsolete malformation syndrome +MONDO:0017282 alveolar echinococcosis MONDO:0015577 Orphanet:284 Orphanet:163588 obsolete rare parasitic disease +MONDO:0017283 DeSanto-Shinawi Syndrome due to 10p11.21p12.31 microdeletion MONDO:8000031 Orphanet:284169 Orphanet:557494 obsolete subtype of a disorder +MONDO:0017284 Xp22.13p22.2 duplication syndrome MONDO:0035863 Orphanet:284180 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0017284 Xp22.13p22.2 duplication syndrome MONDO:8000032 Orphanet:284180 Orphanet:377789 obsolete malformation syndrome +MONDO:0017285 penoscrotal transposition MONDO:0015933 Orphanet:2842 Orphanet:182121 obsolete non-syndromic urogenital tract malformation of male +MONDO:0017285 penoscrotal transposition MONDO:8000030 Orphanet:2842 Orphanet:377791 obsolete morphological anomaly +MONDO:0017286 tempi syndrome MONDO:0032013 Orphanet:284227 Orphanet:377792 obsolete clinical syndrome +MONDO:0017287 IgG4-related disease MONDO:0015939 Orphanet:284264 Orphanet:182228 obsolete systemic autoimmune disease +MONDO:0017289 fetal lung interstitial tumor MONDO:8000031 Orphanet:284362 Orphanet:557494 obsolete subtype of a disorder +MONDO:0017290 familial intrahepatic cholestasis MONDO:0015115 Orphanet:284385 Orphanet:101940 obsolete rare genetic metabolic liver disease +MONDO:0017291 reversible cerebral vasoconstriction syndrome MONDO:0020011 Orphanet:284388 Orphanet:98022 obsolete rare headache disorder +MONDO:0017291 reversible cerebral vasoconstriction syndrome MONDO:0032013 Orphanet:284388 Orphanet:377792 obsolete clinical syndrome +MONDO:0017292 well-differentiated fetal adenocarcinoma of the lung MONDO:0015119 Orphanet:284395 Orphanet:101945 obsolete bronchopulmonary tumor +MONDO:0017295 glycerol kinase deficiency, juvenile form MONDO:8000031 Orphanet:284411 Orphanet:557494 obsolete subtype of a disorder +MONDO:0017296 glycerol kinase deficiency, adult form MONDO:8000031 Orphanet:284414 Orphanet:557494 obsolete subtype of a disorder +MONDO:0017297 chronic lymphocytic inflammation with pontine perivascular enhancement responsive to steroids MONDO:0015916 Orphanet:284448 Orphanet:182064 obsolete rare neuroinflammatory or neuroimmunological disease +MONDO:0017301 pericardial and diaphragmatic defect MONDO:0015216 Orphanet:2847 Orphanet:108979 obsolete syndromic diaphragmatic or abdominal wall malformation +MONDO:0017301 pericardial and diaphragmatic defect MONDO:0015960 Orphanet:2847 Orphanet:183530 obsolete rare genetic developmental defect during embryogenesis +MONDO:0017301 pericardial and diaphragmatic defect MONDO:8000032 Orphanet:2847 Orphanet:377789 obsolete malformation syndrome +MONDO:0017302 obsolete qualitative or quantitative defects of troponin MONDO:0016139 Orphanet:284786 Orphanet:207049 qualitative or quantitative protein defects in neuromuscular diseases +MONDO:0017304 ocular albinism MONDO:0020275 Orphanet:284804 Orphanet:98706 obsolete oculocutaneous or ocular albinism +MONDO:0017305 syndromic oculocutaneous albinism MONDO:0020275 Orphanet:284811 Orphanet:98706 obsolete oculocutaneous or ocular albinism +MONDO:0017308 obsolete Marfan syndrome type 2 MONDO:0007947 Orphanet:284973 Orphanet:558 Marfan syndrome +MONDO:0017308 obsolete Marfan syndrome type 2 MONDO:8000031 Orphanet:284973 Orphanet:557494 obsolete subtype of a disorder +MONDO:0017309 neonatal Marfan syndrome MONDO:0017311 Orphanet:284979 Orphanet:285014 obsolete rare disease with thoracic aortic aneurysm and aortic dissection +MONDO:0017311 obsolete rare disease with thoracic aortic aneurysm and aortic dissection MONDO:0016517 Orphanet:285014 Orphanet:233655 obsolete rare genetic vascular disease +MONDO:0017311 obsolete rare disease with thoracic aortic aneurysm and aortic dissection MONDO:0020002 Orphanet:285014 Orphanet:97962 obsolete rare surgical thoracic disease +MONDO:0017312 Perrault syndrome MONDO:0017965 Orphanet:2855 Orphanet:325109 obsolete syndrome with 46,XX disorder of sex development +MONDO:0017312 Perrault syndrome MONDO:0017978 Orphanet:2855 Orphanet:325638 obsolete syndrome with disorder of sex development of gynecological interest +MONDO:0017312 Perrault syndrome MONDO:0018157 Orphanet:2855 Orphanet:35696 obsolete mitochondrial disorder due to a defect in mitochondrial protein synthesis +MONDO:0017312 Perrault syndrome MONDO:0018402 Orphanet:2855 Orphanet:399877 obsolete female infertility due to gonadal dysgenesis +MONDO:0017312 Perrault syndrome MONDO:0019589 Orphanet:2855 Orphanet:90642 obsolete syndromic genetic hearing loss +MONDO:0017312 Perrault syndrome MONDO:0034443 Orphanet:2855 Orphanet:485382 obsolete genetic non-acquired premature ovarian failure +MONDO:0017314 Ehlers-Danlos syndrome, vascular type MONDO:0017311 Orphanet:286 Orphanet:285014 obsolete rare disease with thoracic aortic aneurysm and aortic dissection +MONDO:0017315 short stature-webbed neck-heart disease syndrome MONDO:0035863 Orphanet:2865 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0017315 short stature-webbed neck-heart disease syndrome MONDO:8000032 Orphanet:2865 Orphanet:377789 obsolete malformation syndrome +MONDO:0017316 short stature-deafness-neutrophil dysfunction-dysmorphism syndrome MONDO:0019589 Orphanet:2866 Orphanet:90642 obsolete syndromic genetic hearing loss +MONDO:0017316 short stature-deafness-neutrophil dysfunction-dysmorphism syndrome MONDO:8000032 Orphanet:2866 Orphanet:377789 obsolete malformation syndrome +MONDO:0017317 phakomatosis pigmentokeratotica MONDO:0017414 Orphanet:2874 Orphanet:294057 obsolete rare nevus +MONDO:0017317 phakomatosis pigmentokeratotica MONDO:0020063 Orphanet:2874 Orphanet:98196 obsolete malformation syndrome with hamartosis +MONDO:0017317 phakomatosis pigmentokeratotica MONDO:8000032 Orphanet:2874 Orphanet:377789 obsolete malformation syndrome +MONDO:0017318 phakomatosis pigmentovascularis MONDO:0020063 Orphanet:2875 Orphanet:98196 obsolete malformation syndrome with hamartosis +MONDO:0017318 phakomatosis pigmentovascularis MONDO:0020222 Orphanet:2875 Orphanet:98638 obsolete rare disease with glaucoma as a major feature +MONDO:0017319 hereditary elliptocytosis MONDO:0020101 Orphanet:288 Orphanet:98364 obsolete constitutional hemolytic anemia due to membrane defect +MONDO:0017321 pili torti-onychodysplasia syndrome MONDO:8000032 Orphanet:2890 Orphanet:377789 obsolete malformation syndrome +MONDO:0017322 disorders of vitamin D metabolism MONDO:0015970 Orphanet:289098 Orphanet:183634 obsolete rare genetic parathyroid disease and phosphocalcic metabolism disorder +MONDO:0017322 disorders of vitamin D metabolism MONDO:0019061 Orphanet:289098 Orphanet:68415 obsolete rare parathyroid disease and phosphocalcic metabolism anomaly +MONDO:0017322 disorders of vitamin D metabolism MONDO:0019705 Orphanet:289098 Orphanet:93447 obsolete primary bone dysplasia with defective bone mineralization +MONDO:0017325 early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation MONDO:0035862 Orphanet:289266 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome +MONDO:0017326 infective dermatitis associated with HTLV-1 MONDO:0015576 Orphanet:289347 Orphanet:163585 obsolete rare viral disease +MONDO:0017326 infective dermatitis associated with HTLV-1 MONDO:0019546 Orphanet:289347 Orphanet:90077 obsolete other acquired skin disease +MONDO:0017328 non-central nervous system-localized embryonal carcinoma MONDO:8000031 Orphanet:289362 Orphanet:557494 obsolete subtype of a disorder +MONDO:0017329 familial vesicoureteral reflux MONDO:0015934 Orphanet:289365 Orphanet:182124 obsolete non-syndromic urogenital tract malformation of male and female +MONDO:0017329 familial vesicoureteral reflux MONDO:0019720 Orphanet:289365 Orphanet:93546 obsolete non-syndromic renal or urinary tract malformation +MONDO:0017329 familial vesicoureteral reflux MONDO:0024987 Orphanet:289365 Orphanet:156622 obsolete genetic urogenital tract malformation +MONDO:0017329 familial vesicoureteral reflux MONDO:8000032 Orphanet:289365 Orphanet:377789 obsolete malformation syndrome +MONDO:0017330 malignancy diagnosed during pregnancy MONDO:0015582 Orphanet:289385 Orphanet:163637 obsolete rare disorder related with pregnancy, childbirth and puerperium +MONDO:0017330 malignancy diagnosed during pregnancy MONDO:0032014 Orphanet:289385 Orphanet:377793 obsolete particular clinical situation in a disease or syndrome MONDO:0017333 obsolete hypomyelinating leukodystrophy with or without oligondontia and/or hypogonadism MONDO:0000001 Orphanet:289494 Orphanet:377788 disease +MONDO:0017333 obsolete hypomyelinating leukodystrophy with or without oligondontia and/or hypogonadism MONDO:0019046 Orphanet:289494 Orphanet:68356 leukodystrophy +MONDO:0017334 12q15q21.1 microdeletion syndrome MONDO:8000032 Orphanet:289513 Orphanet:377789 obsolete malformation syndrome +MONDO:0017335 microtriplication 11q24.1 MONDO:0035863 Orphanet:289522 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0017335 microtriplication 11q24.1 MONDO:8000032 Orphanet:289522 Orphanet:377789 obsolete malformation syndrome +MONDO:0017337 inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency MONDO:0020999 Orphanet:289548 Orphanet:101960 obsolete genetic chronic primary adrenal insufficiency +MONDO:0017338 fatal multiple mitochondrial dysfunctions syndrome MONDO:0017718 Orphanet:289573 Orphanet:309136 obsolete mitochondrial disorder due to a defect in assembly or maturation of the respiratory chain complexes +MONDO:0017338 fatal multiple mitochondrial dysfunctions syndrome MONDO:0019058 Orphanet:289573 Orphanet:68385 obsolete neurometabolic disease +MONDO:0017339 exfoliative ichthyosis MONDO:0027751 Orphanet:289586 Orphanet:250811 obsolete serpinopathy with loss of serpin function +MONDO:0017340 juvenile nasopharyngeal angiofibroma MONDO:0020035 Orphanet:289596 Orphanet:98061 obsolete rare otorhinolaryngologic tumor +MONDO:0017341 virus associated tumor MONDO:0020031 Orphanet:289635 Orphanet:98057 obsolete rare tumor +MONDO:0017349 myopericytoma MONDO:0019099 Orphanet:289685 Orphanet:71209 obsolete rare soft tissue tumor +MONDO:0017353 neonatal glycine encephalopathy MONDO:8000031 Orphanet:289857 Orphanet:557494 obsolete subtype of a disorder +MONDO:0017354 infantile glycine encephalopathy MONDO:8000031 Orphanet:289860 Orphanet:557494 obsolete subtype of a disorder +MONDO:0017357 transient hyperammonemia of the newborn MONDO:0019058 Orphanet:289877 Orphanet:68385 obsolete neurometabolic disease +MONDO:0017357 transient hyperammonemia of the newborn MONDO:0020000 Orphanet:289877 Orphanet:97955 obsolete rare respiratory disease +MONDO:0017357 transient hyperammonemia of the newborn MONDO:0032014 Orphanet:289877 Orphanet:377793 obsolete particular clinical situation in a disease or syndrome +MONDO:0017360 vitamin B12-unresponsive methylmalonic acidemia type mut0 MONDO:8000031 Orphanet:289916 Orphanet:557494 obsolete subtype of a disorder +MONDO:0017361 congenital rubella syndrome MONDO:0015659 Orphanet:290 Orphanet:166490 obsolete infectious disease with epilepsy +MONDO:0017361 congenital rubella syndrome MONDO:0020225 Orphanet:290 Orphanet:98641 obsolete syndromic cataract +MONDO:0017363 idiopathic chronic eosinophilic pneumonia MONDO:0020028 Orphanet:2902 Orphanet:98052 obsolete rare allergic respiratory disease +MONDO:0017364 POEMS syndrome MONDO:0016169 Orphanet:2905 Orphanet:208974 obsolete chronic acquired demyelinating polyneuropathy +MONDO:0017364 POEMS syndrome MONDO:0016178 Orphanet:2905 Orphanet:209010 obsolete peripheral neuropathy associated with monoclonal gammopathy +MONDO:0017364 POEMS syndrome MONDO:0016180 Orphanet:2905 Orphanet:209016 obsolete hematological disease associated with an acquired peripheral neuropathy +MONDO:0017366 hereditary pheochromocytoma-paraganglioma MONDO:0015971 Orphanet:29072 Orphanet:183637 obsolete rare genetic adrenal disease +MONDO:0017366 hereditary pheochromocytoma-paraganglioma MONDO:0025511 Orphanet:29072 Orphanet:271847 obsolete inherited neuroendocrine tumor +MONDO:0017368 obsolete systemic disease with skin involvement MONDO:0019519 Orphanet:290836 Orphanet:89826 obsolete rare skin disease +MONDO:0017369 obsolete autoinflammatory syndrome with immune deficiency MONDO:0015135 Orphanet:290839 Orphanet:101988 obsolete primary immunodeficiency due to a genetic defect in innate immunity +MONDO:0017370 obsolete autoinflammatory syndrome with skin involvement MONDO:0017368 Orphanet:290842 Orphanet:290836 obsolete systemic disease with skin involvement +MONDO:0017371 obsolete rare head and neck tumor MONDO:0020031 Orphanet:290849 Orphanet:98057 obsolete rare tumor +MONDO:0017372 congenital varicella syndrome MONDO:0020225 Orphanet:291 Orphanet:98641 obsolete syndromic cataract +MONDO:0017376 reactive arthritis MONDO:0015940 Orphanet:29207 Orphanet:182231 obsolete rare rheumatologic disease +MONDO:0017377 preaxial polydactyly-colobomata-intellectual disability syndrome MONDO:0035863 Orphanet:2921 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0017377 preaxial polydactyly-colobomata-intellectual disability syndrome MONDO:8000032 Orphanet:2921 Orphanet:377789 obsolete malformation syndrome +MONDO:0017379 polyneuropathy-intellectual disability-acromicria-premature menopause syndrome MONDO:0035863 Orphanet:2928 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0017379 polyneuropathy-intellectual disability-acromicria-premature menopause syndrome MONDO:8000032 Orphanet:2928 Orphanet:377789 obsolete malformation syndrome +MONDO:0017380 juvenile polyposis syndrome MONDO:0018188 Orphanet:2929 Orphanet:363314 obsolete hereditary intestinal polyposis +MONDO:0017381 congenital herpes simplex virus infection MONDO:0015576 Orphanet:293 Orphanet:163585 obsolete rare viral disease +MONDO:0017382 familial clubfoot due to 5q31 microdeletion MONDO:8000031 Orphanet:293144 Orphanet:557494 obsolete subtype of a disorder +MONDO:0017383 familial clubfoot due to PITX1 point mutation MONDO:0019712 Orphanet:293150 Orphanet:93455 obsolete patellar dysostosis +MONDO:0017383 familial clubfoot due to PITX1 point mutation MONDO:8000031 Orphanet:293150 Orphanet:557494 obsolete subtype of a disorder +MONDO:0017385 malignant migrating partial seizures of infancy MONDO:0015922 Orphanet:293181 Orphanet:182083 obsolete channelopathy with epilepsy +MONDO:0017386 pleomorphic rhabdomyosarcoma MONDO:8000031 Orphanet:293199 Orphanet:557494 obsolete subtype of a disorder +MONDO:0017388 celiac trunk compression syndrome MONDO:0015621 Orphanet:293208 Orphanet:165711 obsolete rare abdominal surgical disease +MONDO:0017389 tetrahydrobiopterin-responsive hyperphenylalaninemia/phenylketonuria MONDO:8000031 Orphanet:293284 Orphanet:557494 obsolete subtype of a disorder +MONDO:0017390 obsolete methylmalonic acidemia without homocystinuria MONDO:0019215 Orphanet:293355 Orphanet:79163 classic organic aciduria +MONDO:0017393 blepharophimosis - intellectual disability syndrome MONDO:0020169 Orphanet:293642 Orphanet:98578 obsolete rare disorder with ptosis +MONDO:0017393 blepharophimosis - intellectual disability syndrome MONDO:0035863 Orphanet:293642 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0017394 ketamine-induced biliary dilatation MONDO:0017633 Orphanet:293807 Orphanet:306640 obsolete rare intoxication due to medical products +MONDO:0017396 toxic dermatosis MONDO:0019519 Orphanet:293815 Orphanet:89826 obsolete rare skin disease +MONDO:0017397 obsolete constitutional dyserythropoietic anemia MONDO:0015223 Orphanet:293830 Orphanet:108997 obsolete rare anemia +MONDO:0017397 obsolete constitutional dyserythropoietic anemia MONDO:0015972 Orphanet:293830 Orphanet:183651 obsolete rare constitutional anemia +MONDO:0017398 3MC syndrome MONDO:0035863 Orphanet:293843 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0017398 3MC syndrome MONDO:8000032 Orphanet:293843 Orphanet:377789 obsolete malformation syndrome +MONDO:0017400 hypoplastic pancreas-intestinal atresia-hypoplastic gallbalder syndrome MONDO:0015212 Orphanet:293864 Orphanet:108969 obsolete syndromic intestinal malformation +MONDO:0017400 hypoplastic pancreas-intestinal atresia-hypoplastic gallbalder syndrome MONDO:0015214 Orphanet:293864 Orphanet:108973 obsolete syndromic visceral malformation +MONDO:0017400 hypoplastic pancreas-intestinal atresia-hypoplastic gallbalder syndrome MONDO:0034661 Orphanet:293864 Orphanet:498350 obsolete syndromic biliary atresia +MONDO:0017400 hypoplastic pancreas-intestinal atresia-hypoplastic gallbalder syndrome MONDO:8000032 Orphanet:293864 Orphanet:377789 obsolete malformation syndrome +MONDO:0017401 familial isolated arrhythmogenic ventricular dysplasia, left dominant form MONDO:8000031 Orphanet:293888 Orphanet:557494 obsolete subtype of a disorder +MONDO:0017402 familial isolated arrhythmogenic ventricular dysplasia, biventricular form MONDO:8000031 Orphanet:293899 Orphanet:557494 obsolete subtype of a disorder +MONDO:0017403 familial isolated arrhythmogenic ventricular dysplasia, right dominant form MONDO:8000031 Orphanet:293910 Orphanet:557494 obsolete subtype of a disorder +MONDO:0017404 distal Xq28 microduplication syndrome MONDO:0035862 Orphanet:293939 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome +MONDO:0017404 distal Xq28 microduplication syndrome MONDO:8000032 Orphanet:293939 Orphanet:377789 obsolete malformation syndrome +MONDO:0017405 1p21.3 microdeletion syndrome MONDO:0015878 Orphanet:293948 Orphanet:180772 obsolete rare disease with autism +MONDO:0017405 1p21.3 microdeletion syndrome MONDO:0035862 Orphanet:293948 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome +MONDO:0017405 1p21.3 microdeletion syndrome MONDO:8000032 Orphanet:293948 Orphanet:377789 obsolete malformation syndrome +MONDO:0017406 hypogonadotropic hypogonadism-severe microcephaly-sensorineural hearing loss-dysmorphism syndrome MONDO:0015890 Orphanet:293967 Orphanet:181387 obsolete rare disorder with congenital hypogonadotropic hypogonadism +MONDO:0017406 hypogonadotropic hypogonadism-severe microcephaly-sensorineural hearing loss-dysmorphism syndrome MONDO:0017119 Orphanet:293967 Orphanet:269528 obsolete syndrome with microcephaly as major feature +MONDO:0017406 hypogonadotropic hypogonadism-severe microcephaly-sensorineural hearing loss-dysmorphism syndrome MONDO:0019589 Orphanet:293967 Orphanet:90642 obsolete syndromic genetic hearing loss +MONDO:0017406 hypogonadotropic hypogonadism-severe microcephaly-sensorineural hearing loss-dysmorphism syndrome MONDO:8000032 Orphanet:293967 Orphanet:377789 obsolete malformation syndrome +MONDO:0017407 deficiency in anterior pituitary function - variable immunodeficiency syndrome MONDO:0018041 Orphanet:293978 Orphanet:331244 obsolete other immunodeficiency syndrome with predominantly antibody defects +MONDO:0017407 deficiency in anterior pituitary function - variable immunodeficiency syndrome MONDO:0019827 Orphanet:293978 Orphanet:95495 obsolete disease associated with non-acquired combined pituitary hormone deficiency +MONDO:0017408 rapid-onset childhood obesity-hypothalamic dysfunction-hypoventilation-autonomic dysregulation syndrome MONDO:0015118 Orphanet:293987 Orphanet:101944 obsolete rare pulmonary disease +MONDO:0017408 rapid-onset childhood obesity-hypothalamic dysfunction-hypoventilation-autonomic dysregulation syndrome MONDO:0015510 Orphanet:293987 Orphanet:156610 obsolete rare genetic respiratory disease +MONDO:0017408 rapid-onset childhood obesity-hypothalamic dysfunction-hypoventilation-autonomic dysregulation syndrome MONDO:0016565 Orphanet:293987 Orphanet:240371 obsolete syndromic genetic obesity +MONDO:0017409 fetal cytomegalovirus syndrome MONDO:0015659 Orphanet:294 Orphanet:166490 obsolete infectious disease with epilepsy +MONDO:0017410 porencephaly MONDO:0015655 Orphanet:2940 Orphanet:166478 obsolete cerebral malformation with epilepsy +MONDO:0017411 neonatal inflammatory skin and bowel disease MONDO:0015187 Orphanet:294023 Orphanet:104012 obsolete rare inflammatory bowel disease +MONDO:0017411 neonatal inflammatory skin and bowel disease MONDO:0015616 Orphanet:294023 Orphanet:165655 obsolete rare genetic intestinal disease +MONDO:0017411 neonatal inflammatory skin and bowel disease MONDO:0017369 Orphanet:294023 Orphanet:290839 obsolete autoinflammatory syndrome with immune deficiency +MONDO:0017411 neonatal inflammatory skin and bowel disease MONDO:0017370 Orphanet:294023 Orphanet:290842 obsolete autoinflammatory syndrome with skin involvement +MONDO:0017411 neonatal inflammatory skin and bowel disease MONDO:0017954 Orphanet:294023 Orphanet:324927 obsolete pyogenic autoinflammatory syndrome +MONDO:0017411 neonatal inflammatory skin and bowel disease MONDO:0019274 Orphanet:294023 Orphanet:79359 obsolete other epidermal disorder +MONDO:0017411 neonatal inflammatory skin and bowel disease MONDO:0019275 Orphanet:294023 Orphanet:79360 obsolete other genetic epidermal disease +MONDO:0017411 neonatal inflammatory skin and bowel disease MONDO:0035862 Orphanet:294023 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome +MONDO:0017411 neonatal inflammatory skin and bowel disease MONDO:0957404 Orphanet:294023 Orphanet:324942 obsolete pyogenic autoinflammatory syndrome of childhood +MONDO:0017414 obsolete rare nevus MONDO:0019300 Orphanet:294057 Orphanet:79386 obsolete rare skin tumor or hamartoma +MONDO:0017417 renal-hepatic-pancreatic dysplasia MONDO:0015114 Orphanet:294415 Orphanet:101939 obsolete rare parenchymal liver disease +MONDO:0017417 renal-hepatic-pancreatic dysplasia MONDO:0015214 Orphanet:294415 Orphanet:108973 obsolete syndromic visceral malformation +MONDO:0017417 renal-hepatic-pancreatic dysplasia MONDO:0015508 Orphanet:294415 Orphanet:156604 obsolete hereditary parenchymatous liver disease +MONDO:0017417 renal-hepatic-pancreatic dysplasia MONDO:0022405 Orphanet:294415 Orphanet:156180 obsolete retinal ciliopathy due to mutation in nephronophthisis gene +MONDO:0017417 renal-hepatic-pancreatic dysplasia MONDO:0022409 Orphanet:294415 Orphanet:156162 obsolete nephropathy-associated ciliopathy +MONDO:0017417 renal-hepatic-pancreatic dysplasia MONDO:8000032 Orphanet:294415 Orphanet:377789 obsolete malformation syndrome +MONDO:0017418 chronic intestinal failure MONDO:0015245 Orphanet:294422 Orphanet:117569 obsolete rare intestinal disease +MONDO:0017418 chronic intestinal failure MONDO:0032013 Orphanet:294422 Orphanet:377792 obsolete clinical syndrome +MONDO:0017419 non-syndromic amelia MONDO:0034668 Orphanet:294925 Orphanet:498461 obsolete terminal transverse limb defect +MONDO:0017420 obsolete intercalary limb defects MONDO:0019713 Orphanet:294927 Orphanet:93457 non-syndromic limb reduction defect +MONDO:0017427 congenital deformities of limbs MONDO:0015227 Orphanet:294944 Orphanet:109011 obsolete non-syndromic limb malformation +MONDO:0017428 obsolete congenital deformities of fingers MONDO:0017427 Orphanet:294947 Orphanet:294944 congenital deformities of limbs +MONDO:0017429 obsolete joint formation defects MONDO:0015227 Orphanet:294949 Orphanet:109011 obsolete non-syndromic limb malformation +MONDO:0017429 obsolete joint formation defects MONDO:0018235 Orphanet:294949 Orphanet:364568 obsolete dysostosis with limb anomaly as a major feature +MONDO:0017429 obsolete joint formation defects MONDO:0018455 Orphanet:294949 Orphanet:404571 obsolete dysostosis of genetic origin with limb anomaly as a major feature +MONDO:0017430 obsolete non-syndromic congenital joint dislocations MONDO:0015227 Orphanet:294951 Orphanet:109011 obsolete non-syndromic limb malformation +MONDO:0017431 obsolete non-syndromic limb overgrowth MONDO:0015227 Orphanet:294953 Orphanet:109011 obsolete non-syndromic limb malformation +MONDO:0017432 obsolete syndrome with limb reduction defects MONDO:0015226 Orphanet:294955 Orphanet:109009 obsolete syndrome with limb malformations as a major feature +MONDO:0017432 obsolete syndrome with limb reduction defects MONDO:0018235 Orphanet:294955 Orphanet:364568 obsolete dysostosis with limb anomaly as a major feature +MONDO:0017433 obsolete dysostosis with combined reduction defects of upper and lower limbs MONDO:0015226 Orphanet:294957 Orphanet:109009 obsolete syndrome with limb malformations as a major feature +MONDO:0017433 obsolete dysostosis with combined reduction defects of upper and lower limbs MONDO:0018235 Orphanet:294957 Orphanet:364568 obsolete dysostosis with limb anomaly as a major feature +MONDO:0017433 obsolete dysostosis with combined reduction defects of upper and lower limbs MONDO:0018455 Orphanet:294957 Orphanet:404571 obsolete dysostosis of genetic origin with limb anomaly as a major feature +MONDO:0017434 obsolete syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy MONDO:0015226 Orphanet:294959 Orphanet:109009 obsolete syndrome with limb malformations as a major feature +MONDO:0017434 obsolete syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy MONDO:0018235 Orphanet:294959 Orphanet:364568 obsolete dysostosis with limb anomaly as a major feature +MONDO:0017434 obsolete syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy MONDO:0018455 Orphanet:294959 Orphanet:404571 obsolete dysostosis of genetic origin with limb anomaly as a major feature +MONDO:0017435 popliteal pterygium syndrome MONDO:0015501 Orphanet:294963 Orphanet:156237 obsolete syndrome or malformation associated with head and neck malformations +MONDO:0017435 popliteal pterygium syndrome MONDO:0020156 Orphanet:294963 Orphanet:98565 obsolete syndromic ankyloblepharon +MONDO:0017437 amelia of upper limb MONDO:8000030 Orphanet:294967 Orphanet:377791 obsolete morphological anomaly +MONDO:0017438 amelia of lower limb MONDO:8000030 Orphanet:294969 Orphanet:377791 obsolete morphological anomaly +MONDO:0017439 tetra-amelia MONDO:8000030 Orphanet:294971 Orphanet:377791 obsolete morphological anomaly +MONDO:0017440 humeral agenesis/hypoplasia MONDO:0017420 Orphanet:294973 Orphanet:294927 obsolete intercalary limb defects +MONDO:0017440 humeral agenesis/hypoplasia MONDO:8000030 Orphanet:294973 Orphanet:377791 obsolete morphological anomaly +MONDO:0017441 congenital absence of upper arm and forearm with hand present MONDO:0017420 Orphanet:294975 Orphanet:294927 obsolete intercalary limb defects +MONDO:0017441 congenital absence of upper arm and forearm with hand present MONDO:8000030 Orphanet:294975 Orphanet:377791 obsolete morphological anomaly +MONDO:0017442 congenital absence of thigh and lower leg with foot present MONDO:0017420 Orphanet:294977 Orphanet:294927 obsolete intercalary limb defects +MONDO:0017442 congenital absence of thigh and lower leg with foot present MONDO:8000030 Orphanet:294977 Orphanet:377791 obsolete morphological anomaly +MONDO:0017443 congenital absence of both forearm and hand MONDO:8000030 Orphanet:294979 Orphanet:377791 obsolete morphological anomaly +MONDO:0017444 congenital absence of both lower leg and foot MONDO:8000030 Orphanet:294981 Orphanet:377791 obsolete morphological anomaly +MONDO:0017445 acheiria MONDO:0034668 Orphanet:294983 Orphanet:498461 obsolete terminal transverse limb defect +MONDO:0017445 acheiria MONDO:8000030 Orphanet:294983 Orphanet:377791 obsolete morphological anomaly +MONDO:0017446 apodia MONDO:0034668 Orphanet:294986 Orphanet:498461 obsolete terminal transverse limb defect +MONDO:0017446 apodia MONDO:8000030 Orphanet:294986 Orphanet:377791 obsolete morphological anomaly +MONDO:0017447 obsolete congenital absence/hypoplasia of thumb MONDO:0034667 Orphanet:294988 Orphanet:498457 obsolete longitudinal limb defect +MONDO:0017447 obsolete congenital absence/hypoplasia of thumb MONDO:8000030 Orphanet:294988 Orphanet:377791 obsolete morphological anomaly +MONDO:0017453 fetal parvovirus syndrome MONDO:0015323 Orphanet:295 Orphanet:138059 obsolete teratogenic Pierre Robin syndrome +MONDO:0017453 fetal parvovirus syndrome MONDO:8000032 Orphanet:295 Orphanet:377789 obsolete malformation syndrome +MONDO:0017455 hyperphalangy MONDO:0019714 Orphanet:295002 Orphanet:93458 obsolete non-syndromic polydactyly, syndactyly and/or hyperphalangy +MONDO:0017455 hyperphalangy MONDO:8000030 Orphanet:295002 Orphanet:377791 obsolete morphological anomaly +MONDO:0017456 central polydactyly of fingers MONDO:0034671 Orphanet:295004 Orphanet:498470 obsolete non-syndromic complex polydactyly +MONDO:0017456 central polydactyly of fingers MONDO:8000030 Orphanet:295004 Orphanet:377791 obsolete morphological anomaly +MONDO:0017460 syndactyly type 6 MONDO:8000030 Orphanet:295012 Orphanet:377791 obsolete morphological anomaly +MONDO:0017461 familial isolated clinodactyly of fingers MONDO:0017428 Orphanet:295014 Orphanet:294947 obsolete congenital deformities of fingers +MONDO:0017461 familial isolated clinodactyly of fingers MONDO:8000030 Orphanet:295014 Orphanet:377791 obsolete morphological anomaly +MONDO:0017462 congenital pseudoarthrosis of the tibia MONDO:8000031 Orphanet:295018 Orphanet:557494 obsolete subtype of a disorder +MONDO:0017463 congenital pseudoarthrosis of the femur MONDO:8000031 Orphanet:295020 Orphanet:557494 obsolete subtype of a disorder +MONDO:0017464 congenital pseudoarthrosis of the fibula MONDO:8000031 Orphanet:295022 Orphanet:557494 obsolete subtype of a disorder +MONDO:0017465 congenital pseudoarthrosis of the radius MONDO:8000031 Orphanet:295024 Orphanet:557494 obsolete subtype of a disorder +MONDO:0017466 congenital pseudoarthrosis of the ulna MONDO:8000031 Orphanet:295026 Orphanet:557494 obsolete subtype of a disorder +MONDO:0017467 tibio-fibular synostosis MONDO:0017429 Orphanet:295028 Orphanet:294949 obsolete joint formation defects +MONDO:0017467 tibio-fibular synostosis MONDO:8000030 Orphanet:295028 Orphanet:377791 obsolete morphological anomaly +MONDO:0017468 congenital shoulder dislocation MONDO:0017430 Orphanet:295030 Orphanet:294951 obsolete non-syndromic congenital joint dislocations +MONDO:0017468 congenital shoulder dislocation MONDO:8000030 Orphanet:295030 Orphanet:377791 obsolete morphological anomaly +MONDO:0017469 congenital elbow dislocation MONDO:0017430 Orphanet:295032 Orphanet:294951 obsolete non-syndromic congenital joint dislocations +MONDO:0017469 congenital elbow dislocation MONDO:8000030 Orphanet:295032 Orphanet:377791 obsolete morphological anomaly +MONDO:0017470 congenital knee dislocation MONDO:0017430 Orphanet:295034 Orphanet:294951 obsolete non-syndromic congenital joint dislocations +MONDO:0017470 congenital knee dislocation MONDO:8000030 Orphanet:295034 Orphanet:377791 obsolete morphological anomaly +MONDO:0017471 congenital patella dislocation MONDO:0017430 Orphanet:295036 Orphanet:294951 obsolete non-syndromic congenital joint dislocations +MONDO:0017471 congenital patella dislocation MONDO:8000030 Orphanet:295036 Orphanet:377791 obsolete morphological anomaly +MONDO:0017474 macrodactyly of fingers MONDO:0017431 Orphanet:295044 Orphanet:294953 obsolete non-syndromic limb overgrowth +MONDO:0017474 macrodactyly of fingers MONDO:8000030 Orphanet:295044 Orphanet:377791 obsolete morphological anomaly +MONDO:0017475 macrodactyly of toes MONDO:0017431 Orphanet:295047 Orphanet:294953 obsolete non-syndromic limb overgrowth +MONDO:0017475 macrodactyly of toes MONDO:8000030 Orphanet:295047 Orphanet:377791 obsolete morphological anomaly +MONDO:0017476 upper limb hypertrophy MONDO:0017431 Orphanet:295049 Orphanet:294953 obsolete non-syndromic limb overgrowth +MONDO:0017476 upper limb hypertrophy MONDO:8000030 Orphanet:295049 Orphanet:377791 obsolete morphological anomaly +MONDO:0017477 lower limb hypertrophy MONDO:0017431 Orphanet:295051 Orphanet:294953 obsolete non-syndromic limb overgrowth +MONDO:0017477 lower limb hypertrophy MONDO:8000030 Orphanet:295051 Orphanet:377791 obsolete morphological anomaly +MONDO:0017543 zygodactyly type 2 MONDO:8000031 Orphanet:295189 Orphanet:557494 obsolete subtype of a disorder +MONDO:0017544 zygodactyly type 3 MONDO:8000031 Orphanet:295191 Orphanet:557494 obsolete subtype of a disorder +MONDO:0017545 zygodactyly type 4 MONDO:8000031 Orphanet:295193 Orphanet:557494 obsolete subtype of a disorder +MONDO:0017546 congenital vertical talus, unilateral MONDO:8000031 Orphanet:295201 Orphanet:557494 obsolete subtype of a disorder +MONDO:0017547 congenital vertical talus, bilateral MONDO:8000031 Orphanet:295203 Orphanet:557494 obsolete subtype of a disorder +MONDO:0017552 humero-ulnar synostosis, unilateral MONDO:8000031 Orphanet:295213 Orphanet:557494 obsolete subtype of a disorder +MONDO:0017553 humero-ulnar synostosis, bilateral MONDO:8000031 Orphanet:295215 Orphanet:557494 obsolete subtype of a disorder +MONDO:0017554 radio-ulnar synostosis, unilateral MONDO:8000031 Orphanet:295217 Orphanet:557494 obsolete subtype of a disorder +MONDO:0017555 radio-ulnar synostosis, bilateral MONDO:8000031 Orphanet:295219 Orphanet:557494 obsolete subtype of a disorder +MONDO:0017558 congenital elbow dislocation, unilateral MONDO:8000031 Orphanet:295225 Orphanet:557494 obsolete subtype of a disorder +MONDO:0017559 congenital elbow dislocation, bilateral MONDO:8000031 Orphanet:295227 Orphanet:557494 obsolete subtype of a disorder +MONDO:0017560 congenital genu recurvatum MONDO:8000031 Orphanet:295229 Orphanet:557494 obsolete subtype of a disorder +MONDO:0017561 congenital genu flexum MONDO:8000031 Orphanet:295232 Orphanet:557494 obsolete subtype of a disorder +MONDO:0017564 macrodactyly of fingers, unilateral MONDO:0035162 Orphanet:295239 Orphanet:530313 obsolete PIK3CA-related overgrowth syndrome +MONDO:0017564 macrodactyly of fingers, unilateral MONDO:8000031 Orphanet:295239 Orphanet:557494 obsolete subtype of a disorder +MONDO:0017565 macrodactyly of fingers, bilateral MONDO:8000031 Orphanet:295241 Orphanet:557494 obsolete subtype of a disorder +MONDO:0017566 macrodactyly of toes, unilateral MONDO:0035162 Orphanet:295243 Orphanet:530313 obsolete PIK3CA-related overgrowth syndrome +MONDO:0017566 macrodactyly of toes, unilateral MONDO:8000031 Orphanet:295243 Orphanet:557494 obsolete subtype of a disorder +MONDO:0017567 macrodactyly of toes, bilateral MONDO:8000031 Orphanet:295245 Orphanet:557494 obsolete subtype of a disorder +MONDO:0017568 Prata-Liberal-Goncalves syndrome MONDO:0800094 Orphanet:2956 Orphanet:498454 obsolete dysostosis with brachydactyly with extraskeletal manifestations +MONDO:0017568 Prata-Liberal-Goncalves syndrome MONDO:8000032 Orphanet:2956 Orphanet:377789 obsolete malformation syndrome +MONDO:0017569 de Barsy syndrome MONDO:0016133 Orphanet:2962 Orphanet:207018 obsolete rare hereditary metabolic disease with peripheral neuropathy +MONDO:0017569 de Barsy syndrome MONDO:0019058 Orphanet:2962 Orphanet:68385 obsolete neurometabolic disease +MONDO:0017569 de Barsy syndrome MONDO:0020215 Orphanet:2962 Orphanet:98628 obsolete syndromic corneal dystrophy +MONDO:0017569 de Barsy syndrome MONDO:0020228 Orphanet:2962 Orphanet:98644 obsolete cataract associated with a metabolic disease +MONDO:0017569 de Barsy syndrome MONDO:0035863 Orphanet:2962 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0017570 leukocyte adhesion deficiency MONDO:0020253 Orphanet:2968 Orphanet:98683 obsolete syndrome with a symptomatic strabismus +MONDO:0017571 Proteus-like syndrome MONDO:0017414 Orphanet:2969 Orphanet:294057 obsolete rare nevus +MONDO:0017571 Proteus-like syndrome MONDO:0020225 Orphanet:2969 Orphanet:98641 obsolete syndromic cataract +MONDO:0017572 tick-borne encephalitis MONDO:0015659 Orphanet:297 Orphanet:166490 obsolete infectious disease with epilepsy +MONDO:0017573 46,XX disorder of sex development-anorectal anomalies syndrome MONDO:0015246 Orphanet:2973 Orphanet:117573 obsolete syndromic anorectal malformation +MONDO:0017573 46,XX disorder of sex development-anorectal anomalies syndrome MONDO:0015846 Orphanet:2973 Orphanet:180148 obsolete syndromic uterovaginal malformation +MONDO:0017573 46,XX disorder of sex development-anorectal anomalies syndrome MONDO:0017965 Orphanet:2973 Orphanet:325109 obsolete syndrome with 46,XX disorder of sex development +MONDO:0017573 46,XX disorder of sex development-anorectal anomalies syndrome MONDO:8000032 Orphanet:2973 Orphanet:377789 obsolete malformation syndrome +MONDO:0017574 chronic intestinal pseudoobstruction MONDO:0015184 Orphanet:2978 Orphanet:104009 obsolete rare disease involving intestinal motility +MONDO:0017574 chronic intestinal pseudoobstruction MONDO:0032013 Orphanet:2978 Orphanet:377792 obsolete clinical syndrome +MONDO:0017575 mitochondrial neurogastrointestinal encephalomyopathy MONDO:0015188 Orphanet:298 Orphanet:104013 obsolete metabolic disorder with intestinal involvement +MONDO:0017575 mitochondrial neurogastrointestinal encephalomyopathy MONDO:0016402 Orphanet:298 Orphanet:225700 obsolete mitochondrial disease with epilepsy +MONDO:0017575 mitochondrial neurogastrointestinal encephalomyopathy MONDO:0016403 Orphanet:298 Orphanet:225703 obsolete mitochondrial disease with peripheral neuropathy +MONDO:0017575 mitochondrial neurogastrointestinal encephalomyopathy MONDO:0020169 Orphanet:298 Orphanet:98578 obsolete rare disorder with ptosis +MONDO:0017575 mitochondrial neurogastrointestinal encephalomyopathy MONDO:0035862 Orphanet:298 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome +MONDO:0017577 spontaneous periodic hypothermia MONDO:0020009 Orphanet:29822 Orphanet:98006 obsolete rare neurologic disease +MONDO:0017579 Baraitser-Winter cerebrofrontofacial syndrome MONDO:0015147 Orphanet:2995 Orphanet:102010 obsolete other syndrome with lissencephaly as a major feature +MONDO:0017579 Baraitser-Winter cerebrofrontofacial syndrome MONDO:0020169 Orphanet:2995 Orphanet:98578 obsolete rare disorder with ptosis +MONDO:0017579 Baraitser-Winter cerebrofrontofacial syndrome MONDO:8000032 Orphanet:2995 Orphanet:377789 obsolete malformation syndrome +MONDO:0017580 11p15.4 microduplication syndrome MONDO:0035863 Orphanet:300305 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0017580 11p15.4 microduplication syndrome MONDO:8000032 Orphanet:300305 Orphanet:377789 obsolete malformation syndrome MONDO:0017581 obsolete familial infantile gigantism MONDO:0000001 Orphanet:300373 Orphanet:377788 disease +MONDO:0017581 obsolete familial infantile gigantism MONDO:0015889 Orphanet:300373 Orphanet:181384 obsolete rare hypothalamic or pituitary disease +MONDO:0017581 obsolete familial infantile gigantism MONDO:0015968 Orphanet:300373 Orphanet:183628 obsolete rare genetic hypothalamic or pituitary disease +MONDO:0017583 mirror polydactyly-vertebral segmentation-limbs defects syndrome MONDO:0017434 Orphanet:3004 Orphanet:294959 obsolete syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy +MONDO:0017583 mirror polydactyly-vertebral segmentation-limbs defects syndrome MONDO:8000032 Orphanet:3004 Orphanet:377789 obsolete malformation syndrome +MONDO:0017584 Sagliker syndrome MONDO:0019684 Orphanet:300493 Orphanet:93419 obsolete rare bone disease +MONDO:0017584 Sagliker syndrome MONDO:0032014 Orphanet:300493 Orphanet:377793 obsolete particular clinical situation in a disease or syndrome +MONDO:0017585 painful orbital and systemic neurofibromas-marfanoid habitus syndrome MONDO:8000032 Orphanet:300501 Orphanet:377789 obsolete malformation syndrome +MONDO:0017588 nail tumor MONDO:0019300 Orphanet:300515 Orphanet:79386 obsolete rare skin tumor or hamartoma +MONDO:0017589 follicular cholangitis and pancreatitis MONDO:0015112 Orphanet:300552 Orphanet:101937 obsolete rare pancreatic disease +MONDO:0017589 follicular cholangitis and pancreatitis MONDO:0015116 Orphanet:300552 Orphanet:101941 obsolete rare biliary tract disease +MONDO:0017590 carcinoma of the ampulla of vater MONDO:0019997 Orphanet:300557 Orphanet:97935 obsolete rare gastroenterologic disease +MONDO:0017590 carcinoma of the ampulla of vater MONDO:0020033 Orphanet:300557 Orphanet:98059 obsolete rare digestive tumor +MONDO:0017592 staphylococcal toxemia MONDO:0015575 Orphanet:300579 Orphanet:163582 obsolete rare bacterial infectious disease +MONDO:0017602 ALK-positive anaplastic large cell lymphoma MONDO:8000031 Orphanet:300895 Orphanet:557494 obsolete subtype of a disorder +MONDO:0017603 ALK-negative anaplastic large cell lymphoma MONDO:8000031 Orphanet:300903 Orphanet:557494 obsolete subtype of a disorder +MONDO:0017607 caudal regression sequence MONDO:0017085 Orphanet:3027 Orphanet:268843 obsolete malformation of the neurenteric canal, spinal cord and column +MONDO:0017607 caudal regression sequence MONDO:0019721 Orphanet:3027 Orphanet:93547 obsolete syndromic renal or urinary tract malformation +MONDO:0017607 caudal regression sequence MONDO:8000032 Orphanet:3027 Orphanet:377789 obsolete malformation syndrome +MONDO:0017609 renal tubular dysgenesis MONDO:0019720 Orphanet:3033 Orphanet:93546 obsolete non-syndromic renal or urinary tract malformation +MONDO:0017609 renal tubular dysgenesis MONDO:8000032 Orphanet:3033 Orphanet:377789 obsolete malformation syndrome +MONDO:0017611 pituitary tumor MONDO:0015936 Orphanet:304055 Orphanet:182130 obsolete rare tumor of endocrine glands +MONDO:0017612 junctional epidermolysis bullosa MONDO:0015331 Orphanet:305 Orphanet:139027 obsolete malformation syndrome with skin/mucosae involvement +MONDO:0017614 X-linked intellectual disability-hypogonadism-ichthyosis-obesity-short stature syndrome MONDO:0020253 Orphanet:3055 Orphanet:98683 obsolete syndrome with a symptomatic strabismus +MONDO:0017614 X-linked intellectual disability-hypogonadism-ichthyosis-obesity-short stature syndrome MONDO:0029102 Orphanet:3055 Orphanet:281244 obsolete autosomal ichthyosis syndrome with other associated signs +MONDO:0017614 X-linked intellectual disability-hypogonadism-ichthyosis-obesity-short stature syndrome MONDO:0035863 Orphanet:3055 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0017614 X-linked intellectual disability-hypogonadism-ichthyosis-obesity-short stature syndrome MONDO:8000032 Orphanet:3055 Orphanet:377789 obsolete malformation syndrome +MONDO:0017615 benign familial infantile epilepsy MONDO:0015654 Orphanet:306 Orphanet:166475 obsolete idiopathic or cryptogenic familial epilepsy syndrome with identified loci/genes +MONDO:0017623 PTEN hamartoma tumor syndrome MONDO:0015945 Orphanet:306498 Orphanet:183422 obsolete polymalformative genetic syndrome with increased risk of developing cancer +MONDO:0017623 PTEN hamartoma tumor syndrome MONDO:0015950 Orphanet:306498 Orphanet:183487 obsolete inherited skin tumor +MONDO:0017623 PTEN hamartoma tumor syndrome MONDO:0019300 Orphanet:306498 Orphanet:79386 obsolete rare skin tumor or hamartoma +MONDO:0017623 PTEN hamartoma tumor syndrome MONDO:0020063 Orphanet:306498 Orphanet:98196 obsolete malformation syndrome with hamartosis +MONDO:0017624 familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis MONDO:0019744 Orphanet:306516 Orphanet:93603 obsolete rare renal tubular disease +MONDO:0017627 congenital hereditary facial paralysis-variable hearing loss syndrome MONDO:0015499 Orphanet:306530 Orphanet:156224 obsolete paralytic facial malformation +MONDO:0017627 congenital hereditary facial paralysis-variable hearing loss syndrome MONDO:0020132 Orphanet:306530 Orphanet:98518 obsolete cranial nerve and nuclear aplasia +MONDO:0017627 congenital hereditary facial paralysis-variable hearing loss syndrome MONDO:8000030 Orphanet:306530 Orphanet:377791 obsolete morphological anomaly +MONDO:0017628 myospherulosis MONDO:0015621 Orphanet:306553 Orphanet:165711 obsolete rare abdominal surgical disease +MONDO:0017628 myospherulosis MONDO:0019038 Orphanet:306553 Orphanet:68329 obsolete rare maxillo-facial surgical disease MONDO:0017629 obsolete sodium channelopathy-related small fiber neuropathy MONDO:0000001 Orphanet:306577 Orphanet:377788 disease +MONDO:0017629 obsolete sodium channelopathy-related small fiber neuropathy MONDO:0020127 Orphanet:306577 Orphanet:98497 hereditary peripheral neuropathy +MONDO:0017630 X-linked complicated spastic paraplegia type 1 MONDO:8000031 Orphanet:306617 Orphanet:557494 obsolete subtype of a disorder +MONDO:0017631 obsolete rare tumor of gallbladder and extrahepatic biliary tract MONDO:0015117 Orphanet:306633 Orphanet:101943 obsolete rare hepatic and biliary tract tumor +MONDO:0017632 obsolete rare tumor of liver and intrahepatic biliary tract MONDO:0015117 Orphanet:306636 Orphanet:101943 obsolete rare hepatic and biliary tract tumor +MONDO:0017633 obsolete rare intoxication due to medical products MONDO:0015224 Orphanet:306640 Orphanet:108999 obsolete rare intoxication +MONDO:0017635 obsolete parkinsonian syndrome due to neurodegenerative disease MONDO:0019059 Orphanet:306666 Orphanet:68402 obsolete rare parkinsonian disorder +MONDO:0017636 hemiparkinsonism-hemiatrophy syndrome MONDO:0017635 Orphanet:306669 Orphanet:306666 obsolete parkinsonian syndrome due to neurodegenerative disease +MONDO:0017636 hemiparkinsonism-hemiatrophy syndrome MONDO:0017661 Orphanet:306669 Orphanet:307055 obsolete rare parkinsonian syndrome due to genetic neurodegenerative disease +MONDO:0017637 obsolete rare parkinsonian syndrome due to intoxication MONDO:0019059 Orphanet:306679 Orphanet:68402 obsolete rare parkinsonian disorder +MONDO:0017638 manganese poisoning MONDO:0017637 Orphanet:306682 Orphanet:306679 obsolete rare parkinsonian syndrome due to intoxication +MONDO:0017638 manganese poisoning MONDO:0035328 Orphanet:306682 Orphanet:556508 obsolete rare disorder due to poisoning +MONDO:0017639 carbon monoxide-induced parkinsonism MONDO:0017637 Orphanet:306686 Orphanet:306679 obsolete rare parkinsonian syndrome due to intoxication +MONDO:0017639 carbon monoxide-induced parkinsonism MONDO:0035328 Orphanet:306686 Orphanet:556508 obsolete rare disorder due to poisoning +MONDO:0017640 cyanide-induced parkinsonism MONDO:0017637 Orphanet:306692 Orphanet:306679 obsolete rare parkinsonian syndrome due to intoxication +MONDO:0017640 cyanide-induced parkinsonism MONDO:0035328 Orphanet:306692 Orphanet:556508 obsolete rare disorder due to poisoning +MONDO:0017641 obsolete miscellaneous movement disorder due to neurodegenerative disease MONDO:0015143 Orphanet:306695 Orphanet:102003 obsolete rare movement disorder +MONDO:0017643 obsolete frontotemporal neurodegeneration with movement disorder MONDO:0017641 Orphanet:306708 Orphanet:306695 obsolete miscellaneous movement disorder due to neurodegenerative disease +MONDO:0017643 obsolete frontotemporal neurodegeneration with movement disorder MONDO:0017662 Orphanet:306708 Orphanet:307058 obsolete miscellaneous movement disorder due to genetic neurodegenerative disease +MONDO:0017644 obsolete rare tremor disorder MONDO:0044636 Orphanet:306712 Orphanet:494457 obsolete rare hyperkinetic movement disorder +MONDO:0017645 obsolete rare choreic movement disorder MONDO:0044636 Orphanet:306715 Orphanet:494457 obsolete rare hyperkinetic movement disorder +MONDO:0017646 obsolete neurodegenerative disease with chorea MONDO:0017645 Orphanet:306719 Orphanet:306715 obsolete rare choreic movement disorder +MONDO:0017646 obsolete neurodegenerative disease with chorea MONDO:0034641 Orphanet:306719 Orphanet:496916 obsolete rare genetic hyperkinetic movement disorder +MONDO:0017647 obsolete postinfectious autoimmune disease with chorea MONDO:0017645 Orphanet:306727 Orphanet:306715 obsolete rare choreic movement disorder +MONDO:0017648 Sydenham chorea MONDO:0017647 Orphanet:306731 Orphanet:306727 obsolete postinfectious autoimmune disease with chorea +MONDO:0017648 Sydenham chorea MONDO:0032014 Orphanet:306731 Orphanet:377793 obsolete particular clinical situation in a disease or syndrome +MONDO:0017649 hemidystonia-hemiatrophy syndrome MONDO:0019049 Orphanet:306741 Orphanet:68363 obsolete rare dystonia +MONDO:0017650 obsolete rare myoclonus MONDO:0044636 Orphanet:306747 Orphanet:494457 obsolete rare hyperkinetic movement disorder +MONDO:0017651 obsolete primary myoclonus MONDO:0017650 Orphanet:306750 Orphanet:306747 obsolete rare myoclonus +MONDO:0017651 obsolete primary myoclonus MONDO:0017663 Orphanet:306750 Orphanet:307064 obsolete inherited tremor disorder +MONDO:0017652 obsolete rare disease with myoclonus as a major feature MONDO:0017650 Orphanet:306753 Orphanet:306747 obsolete rare myoclonus +MONDO:0017653 obsolete epilepsy and/or ataxia with myoclonus as major feature MONDO:0017652 Orphanet:306756 Orphanet:306753 obsolete rare disease with myoclonus as a major feature +MONDO:0017653 obsolete epilepsy and/or ataxia with myoclonus as major feature MONDO:0017665 Orphanet:306756 Orphanet:307067 obsolete rare genetic disease with myoclonus as a major feature +MONDO:0017654 obsolete non progressive epilepsy and/or ataxia with myoclonus as a major feature MONDO:0017653 Orphanet:306759 Orphanet:306756 obsolete epilepsy and/or ataxia with myoclonus as major feature +MONDO:0017656 obsolete motor stereotypies MONDO:0034641 Orphanet:306765 Orphanet:496916 obsolete rare genetic hyperkinetic movement disorder +MONDO:0017656 obsolete motor stereotypies MONDO:0044636 Orphanet:306765 Orphanet:494457 obsolete rare hyperkinetic movement disorder +MONDO:0017657 obsolete rare paroxysmal movement disorder MONDO:0015143 Orphanet:306768 Orphanet:102003 obsolete rare movement disorder +MONDO:0017657 obsolete rare paroxysmal movement disorder MONDO:0015957 Orphanet:306768 Orphanet:183521 obsolete rare genetic movement disorder +MONDO:0017658 hyperekplexia MONDO:0015143 Orphanet:306773 Orphanet:102003 obsolete rare movement disorder +MONDO:0017660 obsolete rare genetic parkinsonian disorder MONDO:0015957 Orphanet:307052 Orphanet:183521 obsolete rare genetic movement disorder +MONDO:0017661 obsolete rare parkinsonian syndrome due to genetic neurodegenerative disease MONDO:0017660 Orphanet:307055 Orphanet:307052 obsolete rare genetic parkinsonian disorder +MONDO:0017662 obsolete miscellaneous movement disorder due to genetic neurodegenerative disease MONDO:0015957 Orphanet:307058 Orphanet:183521 obsolete rare genetic movement disorder +MONDO:0017663 obsolete inherited tremor disorder MONDO:0034641 Orphanet:307061 Orphanet:496916 obsolete rare genetic hyperkinetic movement disorder +MONDO:0017663 obsolete inherited tremor disorder MONDO:0034641 Orphanet:307064 Orphanet:496916 obsolete rare genetic hyperkinetic movement disorder +MONDO:0017665 obsolete rare genetic disease with myoclonus as a major feature MONDO:0017663 Orphanet:307067 Orphanet:307064 obsolete inherited tremor disorder +MONDO:0017667 obsolete isolated diffuse palmoplantar keratoderma MONDO:0017666 Orphanet:307148 Orphanet:307141 diffuse palmoplantar keratoderma +MONDO:0017668 intellectual disability-short stature-hypertelorism syndrome MONDO:0035863 Orphanet:3074 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0017668 intellectual disability-short stature-hypertelorism syndrome MONDO:8000032 Orphanet:3074 Orphanet:377789 obsolete malformation syndrome +MONDO:0017669 obsolete disease with diffuse palmoplantar keratoderma as a major feature MONDO:0017666 Orphanet:307711 Orphanet:307141 diffuse palmoplantar keratoderma +MONDO:0017670 obsolete autosomal dominant diffuse mutilating palmoplantar keratoderma MONDO:0020094 Orphanet:307773 Orphanet:98352 obsolete autosomal dominant disease with diffuse palmoplantar keratoderma as a major feature +MONDO:0017671 obsolete autosomal recessive disease with diffuse palmoplantar keratoderma as a major feature MONDO:0017669 Orphanet:307804 Orphanet:307711 obsolete disease with diffuse palmoplantar keratoderma as a major feature +MONDO:0017673 obsolete isolated focal palmoplantar keratoderma MONDO:0017672 Orphanet:307846 Orphanet:307837 focal palmoplantar keratoderma +MONDO:0017674 obsolete disease with focal palmoplantar keratoderma as a major feature MONDO:0017672 Orphanet:307871 Orphanet:307837 focal palmoplantar keratoderma +MONDO:0017676 obsolete marginal papular palmoplantar keratoderma MONDO:0016518 Orphanet:307995 Orphanet:2338 obsolete isolated punctate palmoplantar keratoderma +MONDO:0017677 focal acral hyperkeratosis MONDO:0017676 Orphanet:308013 Orphanet:307995 obsolete marginal papular palmoplantar keratoderma +MONDO:0017678 obsolete obsolete disease with punctate palmoplantar keratoderma as a major feature MONDO:0017675 Orphanet:308023 Orphanet:307967 punctate palmoplantar keratoderma +MONDO:0017679 obsolete obsolete autosomal dominant disease associated with punctate palmoplantar keratoderma as a major feature MONDO:0017678 Orphanet:308031 Orphanet:308023 obsolete obsolete disease with punctate palmoplantar keratoderma as a major feature +MONDO:0017680 obsolete autosomal recessive disease associated with punctate palmoplantar keratoderma as a major feature MONDO:0017678 Orphanet:308041 Orphanet:308023 obsolete obsolete disease with punctate palmoplantar keratoderma as a major feature +MONDO:0017681 erythrokeratoderma variabilis progressiva MONDO:0026150 Orphanet:308166 Orphanet:183438 obsolete genetic erythrokeratoderma +MONDO:0017682 intellectual disability-polydactyly-uncombable hair syndrome MONDO:0035863 Orphanet:3082 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0017682 intellectual disability-polydactyly-uncombable hair syndrome MONDO:8000032 Orphanet:3082 Orphanet:377789 obsolete malformation syndrome +MONDO:0017683 methylcobalamin deficiency type cblDv1 MONDO:8000031 Orphanet:308380 Orphanet:557494 obsolete subtype of a disorder +MONDO:0017685 vitamin B12-responsive methylmalonic acidemia, type cblDv2 MONDO:8000031 Orphanet:308442 Orphanet:557494 obsolete subtype of a disorder +MONDO:0017686 inborn aminoacylase deficiency MONDO:0019213 Orphanet:308448 Orphanet:79158 obsolete cerebral organic aciduria +MONDO:0017691 erythrocyte galactose epimerase deficiency MONDO:8000031 Orphanet:308473 Orphanet:557494 obsolete subtype of a disorder +MONDO:0017692 generalized galactose epimerase deficiency MONDO:8000031 Orphanet:308487 Orphanet:557494 obsolete subtype of a disorder +MONDO:0017693 obsolete glycogen storage disease due to glycogen synthase deficiency MONDO:0002412 Orphanet:308520 Orphanet:79201 disorder of glycogen metabolism +MONDO:0017694 glycogen storage disease due to acid maltase deficiency, infantile onset MONDO:8000031 Orphanet:308552 Orphanet:557494 obsolete subtype of a disorder +MONDO:0017695 glycogen storage disease due to glycogen branching enzyme deficiency, progressive hepatic form MONDO:8000031 Orphanet:308621 Orphanet:557494 obsolete subtype of a disorder +MONDO:0017696 glycogen storage disease due to glycogen branching enzyme deficiency, non progressive hepatic form MONDO:8000031 Orphanet:308638 Orphanet:557494 obsolete subtype of a disorder +MONDO:0017697 glycogen storage disease due to glycogen branching enzyme deficiency, fatal perinatal neuromuscular form MONDO:8000031 Orphanet:308655 Orphanet:557494 obsolete subtype of a disorder +MONDO:0017698 glycogen storage disease due to glycogen branching enzyme deficiency, congenital neuromuscular form MONDO:8000031 Orphanet:308670 Orphanet:557494 obsolete subtype of a disorder +MONDO:0017699 glycogen storage disease due to glycogen branching enzyme deficiency, childhood combined hepatic and myopathic form MONDO:8000031 Orphanet:308684 Orphanet:557494 obsolete subtype of a disorder +MONDO:0017700 glycogen storage disease due to glycogen branching enzyme deficiency, childhood neuromuscular form MONDO:8000031 Orphanet:308698 Orphanet:557494 obsolete subtype of a disorder +MONDO:0017701 glycogen storage disease due to glycogen branching enzyme deficiency, adult neuromuscular form MONDO:8000031 Orphanet:308712 Orphanet:557494 obsolete subtype of a disorder +MONDO:0017704 familial partial epilepsy MONDO:0015654 Orphanet:309 Orphanet:166475 obsolete idiopathic or cryptogenic familial epilepsy syndrome with identified loci/genes +MONDO:0017704 familial partial epilepsy MONDO:0015922 Orphanet:309 Orphanet:182083 obsolete channelopathy with epilepsy +MONDO:0017708 mevalonate kinase deficiency MONDO:0017370 Orphanet:309025 Orphanet:290842 obsolete autoinflammatory syndrome with skin involvement +MONDO:0017709 obsolete disorder of lipid absorption and transport MONDO:0002525 Orphanet:309028 Orphanet:309005 inherited lipid metabolism disorder +MONDO:0017709 obsolete disorder of lipid absorption and transport MONDO:0015112 Orphanet:309028 Orphanet:101937 obsolete rare pancreatic disease +MONDO:0017709 obsolete disorder of lipid absorption and transport MONDO:0015618 Orphanet:309028 Orphanet:165661 obsolete genetic pancreatic disease +MONDO:0017710 obsolete congenital systemic veins anomaly MONDO:0018185 Orphanet:3091 Orphanet:363189 obsolete congenital anomaly of the great veins +MONDO:0017711 pancreatic colipase deficiency MONDO:0017709 Orphanet:309108 Orphanet:309028 obsolete disorder of lipid absorption and transport +MONDO:0017712 combined pancreatic lipase-colipase deficiency MONDO:0017709 Orphanet:309111 Orphanet:309028 obsolete disorder of lipid absorption and transport +MONDO:0017717 obsolete metabolic disease due to other fatty acid oxidation disorder MONDO:0019223 Orphanet:309133 Orphanet:79174 disorder of fatty acid and ketone body metabolism +MONDO:0017718 obsolete mitochondrial disorder due to a defect in assembly or maturation of the respiratory chain complexes MONDO:0016578 Orphanet:309136 Orphanet:2443 obsolete mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies +MONDO:0017719 gangliosidosis MONDO:0018299 Orphanet:309144 Orphanet:371442 obsolete sphingolipidosis with epilepsy +MONDO:0017720 GM2 gangliosidosis MONDO:0015918 Orphanet:309152 Orphanet:182070 obsolete rare neurodegenerative disease +MONDO:0017720 GM2 gangliosidosis MONDO:0019058 Orphanet:309152 Orphanet:68385 obsolete neurometabolic disease +MONDO:0017721 Sandhoff disease, infantile form MONDO:8000031 Orphanet:309155 Orphanet:557494 obsolete subtype of a disorder +MONDO:0017722 Sandhoff disease, juvenile form MONDO:8000031 Orphanet:309162 Orphanet:557494 obsolete subtype of a disorder +MONDO:0017723 Sandhoff disease, adult form MONDO:8000031 Orphanet:309169 Orphanet:557494 obsolete subtype of a disorder +MONDO:0017724 Tay-Sachs disease, b variant, infantile form MONDO:8000031 Orphanet:309178 Orphanet:557494 obsolete subtype of a disorder +MONDO:0017725 Tay-Sachs disease, b variant, juvenile form MONDO:8000031 Orphanet:309185 Orphanet:557494 obsolete subtype of a disorder +MONDO:0017726 Tay-Sachs disease, B variant, adult form MONDO:8000031 Orphanet:309192 Orphanet:557494 obsolete subtype of a disorder +MONDO:0017727 fixed subaortic stenosis MONDO:0020286 Orphanet:3092 Orphanet:98718 obsolete aortic malformation +MONDO:0017727 fixed subaortic stenosis MONDO:8000030 Orphanet:3092 Orphanet:377791 obsolete morphological anomaly +MONDO:0017729 metachromatic leukodystrophy, late infantile form MONDO:8000031 Orphanet:309256 Orphanet:557494 obsolete subtype of a disorder +MONDO:0017730 metachromatic leukodystrophy, adult form MONDO:8000031 Orphanet:309271 Orphanet:557494 obsolete subtype of a disorder +MONDO:0017732 alpha-mannosidosis, infantile form MONDO:8000031 Orphanet:309282 Orphanet:557494 obsolete subtype of a disorder +MONDO:0017733 alpha-mannosidosis, adult form MONDO:8000031 Orphanet:309288 Orphanet:557494 obsolete subtype of a disorder +MONDO:0017734 sialidosis MONDO:0034953 Orphanet:309294 Orphanet:519325 obsolete syndromic inherited retinal disorder +MONDO:0017735 congenital aortic valve stenosis MONDO:0020286 Orphanet:3093 Orphanet:98718 obsolete aortic malformation +MONDO:0017735 congenital aortic valve stenosis MONDO:0020293 Orphanet:3093 Orphanet:98725 obsolete ascending aorta anomaly +MONDO:0017735 congenital aortic valve stenosis MONDO:8000030 Orphanet:3093 Orphanet:377791 obsolete morphological anomaly +MONDO:0017737 intermediate severe Salla disease MONDO:8000031 Orphanet:309331 Orphanet:557494 obsolete subtype of a disorder +MONDO:0017742 obsolete disorder of O-xylosylglycan synthesis MONDO:0017741 Orphanet:309450 Orphanet:309447 disorder of protein O-glycosylation +MONDO:0017743 obsolete disorder of O-N-acetylgalactosaminylglycan synthesis MONDO:0017741 Orphanet:309458 Orphanet:309447 disorder of protein O-glycosylation +MONDO:0017744 obsolete disorder of O-xylosyl/N-acetylgalactosaminylglycan synthesis MONDO:0017741 Orphanet:309463 Orphanet:309447 disorder of protein O-glycosylation +MONDO:0017745 obsolete disorder of O-mannosylglycan synthesis MONDO:0017741 Orphanet:309469 Orphanet:309447 disorder of protein O-glycosylation +MONDO:0017746 atypical Rett syndrome MONDO:0015680 Orphanet:3095 Orphanet:168778 obsolete rare pervasive developmental disorder +MONDO:0017746 atypical Rett syndrome MONDO:0017656 Orphanet:3095 Orphanet:306765 obsolete motor stereotypies +MONDO:0017746 atypical Rett syndrome MONDO:0035862 Orphanet:3095 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome +MONDO:0017753 obsolete disorder of peroxisomal alpha-, beta- and omega-oxidation MONDO:0019053 Orphanet:309810 Orphanet:68373 peroxisomal disease +MONDO:0017756 obsolete disorder of pterin metabolism MONDO:0019058 Orphanet:309819 Orphanet:68385 obsolete neurometabolic disease +MONDO:0017756 obsolete disorder of pterin metabolism MONDO:0019219 Orphanet:309819 Orphanet:79169 inborn disorder of neurotransmitter metabolism and transport +MONDO:0017760 obsolete disorder of other vitamins and cofactors metabolism and transport MONDO:0017758 Orphanet:309833 Orphanet:309827 disorder of vitamin and non-protein cofactor absorption and transport +MONDO:0017769 acquired immunodeficiency MONDO:0020008 Orphanet:310050 Orphanet:98004 obsolete rare immune disease +MONDO:0017771 Mayer-Rokitansky-Kuster-Hauser syndrome MONDO:0018403 Orphanet:3109 Orphanet:399882 obsolete female infertility due to an implantation defect +MONDO:0017771 Mayer-Rokitansky-Kuster-Hauser syndrome MONDO:0018414 Orphanet:3109 Orphanet:400025 obsolete female infertility due to an implantation defect of genetic origin +MONDO:0017771 Mayer-Rokitansky-Kuster-Hauser syndrome MONDO:0019721 Orphanet:3109 Orphanet:93547 obsolete syndromic renal or urinary tract malformation +MONDO:0017771 Mayer-Rokitansky-Kuster-Hauser syndrome MONDO:8000032 Orphanet:3109 Orphanet:377789 obsolete malformation syndrome +MONDO:0017773 hypoalphalipoproteinemia MONDO:0015904 Orphanet:31153 Orphanet:181431 obsolete rare hypolipidemia +MONDO:0017774 hypobetalipoproteinemia MONDO:0015904 Orphanet:31154 Orphanet:181431 obsolete rare hypolipidemia +MONDO:0017775 melioidosis MONDO:0015575 Orphanet:31202 Orphanet:163582 obsolete rare bacterial infectious disease +MONDO:0017776 nocardiosis MONDO:0015575 Orphanet:31204 Orphanet:163582 obsolete rare bacterial infectious disease +MONDO:0017779 alpha-N-acetylgalactosaminidase deficiency MONDO:0016397 Orphanet:3137 Orphanet:225681 obsolete lysosomal disease with epilepsy +MONDO:0017779 alpha-N-acetylgalactosaminidase deficiency MONDO:0019058 Orphanet:3137 Orphanet:68385 obsolete neurometabolic disease +MONDO:0017779 alpha-N-acetylgalactosaminidase deficiency MONDO:0020225 Orphanet:3137 Orphanet:98641 obsolete syndromic cataract +MONDO:0017779 alpha-N-acetylgalactosaminidase deficiency MONDO:0035862 Orphanet:3137 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome +MONDO:0017780 20p13 microdeletion syndrome MONDO:0035863 Orphanet:313781 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0017780 20p13 microdeletion syndrome MONDO:8000032 Orphanet:313781 Orphanet:377789 obsolete malformation syndrome +MONDO:0017781 12p12.1 microdeletion syndrome MONDO:8000031 Orphanet:313884 Orphanet:557494 obsolete subtype of a disorder +MONDO:0017782 developmental and speech delay due to SOX5 deficiency MONDO:8000031 Orphanet:313892 Orphanet:557494 obsolete subtype of a disorder +MONDO:0017783 congenital pancreatic cyst MONDO:0015112 Orphanet:313906 Orphanet:101937 obsolete rare pancreatic disease +MONDO:0017783 congenital pancreatic cyst MONDO:8000030 Orphanet:313906 Orphanet:377791 obsolete morphological anomaly +MONDO:0017784 Epstein-Barr virus-associated gastric carcinoma MONDO:0018501 Orphanet:313920 Orphanet:423771 obsolete rare carcinoma of stomach +MONDO:0017785 PENS syndrome MONDO:0017414 Orphanet:313936 Orphanet:294057 obsolete rare nevus +MONDO:0017786 2q23.1 microduplication syndrome MONDO:0035863 Orphanet:313947 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0017786 2q23.1 microduplication syndrome MONDO:8000032 Orphanet:313947 Orphanet:377789 obsolete malformation syndrome +MONDO:0017787 erythroderma desquamativum MONDO:0019305 Orphanet:314 Orphanet:79391 obsolete immune deficiency with skin involvement +MONDO:0017787 erythroderma desquamativum MONDO:0026166 Orphanet:314 Orphanet:183494 obsolete genetic immune deficiency with skin involvement +MONDO:0017788 contractures - webbed neck - micrognathia - hypoplastic nipples syndrome MONDO:0043008 Orphanet:314002 Orphanet:330206 obsolete genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability +MONDO:0017788 contractures - webbed neck - micrognathia - hypoplastic nipples syndrome MONDO:8000032 Orphanet:314002 Orphanet:377789 obsolete malformation syndrome +MONDO:0017791 high bone mass osteogenesis imperfecta MONDO:0800084 Orphanet:314029 Orphanet:93444 obsolete primary bone dysplasia with increased bone density +MONDO:0017792 7p22.1 microduplication syndrome MONDO:0035863 Orphanet:314034 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0017792 7p22.1 microduplication syndrome MONDO:8000032 Orphanet:314034 Orphanet:377789 obsolete malformation syndrome +MONDO:0017793 marfanoid habitus-inguinal hernia-advanced bone age syndrome MONDO:0015332 Orphanet:314041 Orphanet:139030 obsolete rare developmental defect with connective tissue involvement +MONDO:0017793 marfanoid habitus-inguinal hernia-advanced bone age syndrome MONDO:8000032 Orphanet:314041 Orphanet:377789 obsolete malformation syndrome +MONDO:0017794 Xq12-q13.3 duplication syndrome MONDO:0015878 Orphanet:314389 Orphanet:180772 obsolete rare disease with autism +MONDO:0017794 Xq12-q13.3 duplication syndrome MONDO:8000032 Orphanet:314389 Orphanet:377789 obsolete malformation syndrome +MONDO:0017795 ameloblastoma MONDO:0017797 Orphanet:314419 Orphanet:314425 obsolete rare odontologic tumor +MONDO:0017797 obsolete rare odontologic tumor MONDO:0017371 Orphanet:314425 Orphanet:290849 obsolete rare head and neck tumor +MONDO:0017797 obsolete rare odontologic tumor MONDO:0020013 Orphanet:314425 Orphanet:98026 obsolete rare odontologic disease +MONDO:0017798 Spigelian hernia-cryptorchidism syndrome MONDO:0015216 Orphanet:314432 Orphanet:108979 obsolete syndromic diaphragmatic or abdominal wall malformation +MONDO:0017798 Spigelian hernia-cryptorchidism syndrome MONDO:8000032 Orphanet:314432 Orphanet:377789 obsolete malformation syndrome +MONDO:0017799 Meigs syndrome MONDO:0019965 Orphanet:314451 Orphanet:97293 obsolete rare benign ovarian tumor +MONDO:0017799 Meigs syndrome MONDO:0032013 Orphanet:314451 Orphanet:377792 obsolete clinical syndrome +MONDO:0017800 pseudo-Meigs syndrome MONDO:0019965 Orphanet:314459 Orphanet:97293 obsolete rare benign ovarian tumor +MONDO:0017800 pseudo-Meigs syndrome MONDO:0032013 Orphanet:314459 Orphanet:377792 obsolete clinical syndrome +MONDO:0017801 atypical Meigs syndrome MONDO:0019965 Orphanet:314466 Orphanet:97293 obsolete rare benign ovarian tumor +MONDO:0017801 atypical Meigs syndrome MONDO:0032013 Orphanet:314466 Orphanet:377792 obsolete clinical syndrome +MONDO:0017802 ovarian fibrothecoma MONDO:0019965 Orphanet:314478 Orphanet:97293 obsolete rare benign ovarian tumor +MONDO:0017803 primary progressive apraxia of speech MONDO:0015918 Orphanet:314566 Orphanet:182070 obsolete rare neurodegenerative disease +MONDO:0017804 autosomal recessive leukoencephalopathy-ischemic stroke-retinitis pigmentosa syndrome MONDO:0018787 Orphanet:314572 Orphanet:477754 obsolete genetic cerebral small vessel disease +MONDO:0017804 autosomal recessive leukoencephalopathy-ischemic stroke-retinitis pigmentosa syndrome MONDO:0020240 Orphanet:314572 Orphanet:98661 obsolete syndromic retinitis pigmentosa +MONDO:0017805 intellectual disability-hypotonia-brachycephaly-pyloric stenosis-cryptorchidism syndrome MONDO:0035863 Orphanet:314575 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0017805 intellectual disability-hypotonia-brachycephaly-pyloric stenosis-cryptorchidism syndrome MONDO:8000032 Orphanet:314575 Orphanet:377789 obsolete malformation syndrome +MONDO:0017806 15q overgrowth syndrome MONDO:0019717 Orphanet:314585 Orphanet:93461 obsolete chromosomal disease with overgrowth +MONDO:0017806 15q overgrowth syndrome MONDO:0020226 Orphanet:314585 Orphanet:98642 obsolete chromosomal anomaly with cataract +MONDO:0017806 15q overgrowth syndrome MONDO:0035863 Orphanet:314585 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0017806 15q overgrowth syndrome MONDO:8000032 Orphanet:314585 Orphanet:377789 obsolete malformation syndrome +MONDO:0017807 growing teratoma syndrome MONDO:0032014 Orphanet:314613 Orphanet:377793 obsolete particular clinical situation in a disease or syndrome +MONDO:0017808 duplication of the pituitary gland MONDO:0015889 Orphanet:314621 Orphanet:181384 obsolete rare hypothalamic or pituitary disease +MONDO:0017808 duplication of the pituitary gland MONDO:0017090 Orphanet:314621 Orphanet:268926 obsolete midline cerebral malformation +MONDO:0017808 duplication of the pituitary gland MONDO:8000030 Orphanet:314621 Orphanet:377791 obsolete morphological anomaly +MONDO:0017809 parkinsonism due to ATP13A2 deficiency MONDO:0034901 Orphanet:314632 Orphanet:514980 obsolete ATP13A2-related parkinsonism +MONDO:0017811 severe neonatal hypotonia-seizures-encephalopathy syndrome due to 5q31.3 microdeletion MONDO:0018580 Orphanet:314655 Orphanet:438213 obsolete PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome +MONDO:0017811 severe neonatal hypotonia-seizures-encephalopathy syndrome due to 5q31.3 microdeletion MONDO:8000031 Orphanet:314655 Orphanet:557494 obsolete subtype of a disorder +MONDO:0017812 segmental progressive overgrowth syndrome with fibroadipose hyperplasia MONDO:0035162 Orphanet:314662 Orphanet:530313 obsolete PIK3CA-related overgrowth syndrome +MONDO:0017813 van Maldergem syndrome MONDO:0035863 Orphanet:314679 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0017813 van Maldergem syndrome MONDO:8000032 Orphanet:314679 Orphanet:377789 obsolete malformation syndrome +MONDO:0017815 acquired porencephaly MONDO:8000031 Orphanet:314697 Orphanet:557494 obsolete subtype of a disorder +MONDO:0017816 primary systemic amyloidosis MONDO:8000031 Orphanet:314701 Orphanet:557494 obsolete subtype of a disorder +MONDO:0017817 primary localized amyloidosis MONDO:8000031 Orphanet:314709 Orphanet:557494 obsolete subtype of a disorder +MONDO:0017818 lethal arteriopathy syndrome due to fibulin-4 deficiency MONDO:0016517 Orphanet:314718 Orphanet:233655 obsolete rare genetic vascular disease +MONDO:0017819 atypical dentin dysplasia due to SMOC2 deficiency MONDO:8000031 Orphanet:314721 Orphanet:557494 obsolete subtype of a disorder +MONDO:0017825 silent pituitary adenoma MONDO:8000031 Orphanet:314786 Orphanet:557494 obsolete subtype of a disorder +MONDO:0017826 null pituitary adenoma MONDO:8000031 Orphanet:314790 Orphanet:557494 obsolete subtype of a disorder +MONDO:0017828 obsolete primary renal tubular acidosis MONDO:0015962 Orphanet:314822 Orphanet:183592 inherited renal tubular disease +MONDO:0017828 obsolete primary renal tubular acidosis MONDO:0019744 Orphanet:314822 Orphanet:93603 obsolete rare renal tubular disease +MONDO:0017829 autosomal dominant proximal renal tubular acidosis MONDO:8000031 Orphanet:314889 Orphanet:557494 obsolete subtype of a disorder +MONDO:0017830 severe Canavan disease MONDO:8000031 Orphanet:314911 Orphanet:557494 obsolete subtype of a disorder +MONDO:0017831 mild Canavan disease MONDO:8000031 Orphanet:314918 Orphanet:557494 obsolete subtype of a disorder +MONDO:0017835 lymphocytic hypereosinophilic syndrome MONDO:8000031 Orphanet:314970 Orphanet:557494 obsolete subtype of a disorder +MONDO:0017836 erythrokeratoderma en cocardes MONDO:0026150 Orphanet:315 Orphanet:183438 obsolete genetic erythrokeratoderma +MONDO:0017837 multiple sclerosis-ichthyosis-factor VIII deficiency syndrome MONDO:0019039 Orphanet:3151 Orphanet:68334 obsolete rare hemorrhagic disorder due to a constitutional coagulation factors defect +MONDO:0017837 multiple sclerosis-ichthyosis-factor VIII deficiency syndrome MONDO:0029102 Orphanet:3151 Orphanet:281244 obsolete autosomal ichthyosis syndrome with other associated signs +MONDO:0017838 sclerosteosis MONDO:0800084 Orphanet:3152 Orphanet:93444 obsolete primary bone dysplasia with increased bone density +MONDO:0017838 sclerosteosis MONDO:8000032 Orphanet:3152 Orphanet:377789 obsolete malformation syndrome +MONDO:0017839 classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, salt wasting form MONDO:8000031 Orphanet:315306 Orphanet:557494 obsolete subtype of a disorder +MONDO:0017840 classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, simple virilizing form MONDO:8000031 Orphanet:315311 Orphanet:557494 obsolete subtype of a disorder +MONDO:0017841 obsolete autoimmune disease with skin involvement MONDO:0019519 Orphanet:315350 Orphanet:89826 obsolete rare skin disease +MONDO:0017842 Senior-Loken syndrome MONDO:0020240 Orphanet:3156 Orphanet:98661 obsolete syndromic retinitis pigmentosa +MONDO:0017842 Senior-Loken syndrome MONDO:0022405 Orphanet:3156 Orphanet:156180 obsolete retinal ciliopathy due to mutation in nephronophthisis gene +MONDO:0017842 Senior-Loken syndrome MONDO:0022409 Orphanet:3156 Orphanet:156162 obsolete nephropathy-associated ciliopathy +MONDO:0017843 congenital pulmonary sequestration MONDO:0015221 Orphanet:3161 Orphanet:108993 obsolete non-syndromic respiratory or mediastinal malformation +MONDO:0017843 congenital pulmonary sequestration MONDO:0015930 Orphanet:3161 Orphanet:182111 obsolete respiratory malformation +MONDO:0017843 congenital pulmonary sequestration MONDO:8000032 Orphanet:3161 Orphanet:377789 obsolete malformation syndrome +MONDO:0017844 Sezary syndrome MONDO:0015817 Orphanet:3162 Orphanet:178551 obsolete aggressive primary cutaneous T-cell lymphoma +MONDO:0017849 Siegler-Brewer-Carey syndrome MONDO:0015118 Orphanet:3167 Orphanet:101944 obsolete rare pulmonary disease +MONDO:0017849 Siegler-Brewer-Carey syndrome MONDO:0015510 Orphanet:3167 Orphanet:156610 obsolete rare genetic respiratory disease +MONDO:0017849 Siegler-Brewer-Carey syndrome MONDO:0020225 Orphanet:3167 Orphanet:98641 obsolete syndromic cataract +MONDO:0017849 Siegler-Brewer-Carey syndrome MONDO:8000032 Orphanet:3167 Orphanet:377789 obsolete malformation syndrome +MONDO:0017850 sirenomelia MONDO:8000032 Orphanet:3169 Orphanet:377789 obsolete malformation syndrome +MONDO:0017851 erythrokeratodermia variabilis MONDO:0017262 Orphanet:317 Orphanet:281082 obsolete inherited non-syndromic ichthyosis +MONDO:0017851 erythrokeratodermia variabilis MONDO:0020094 Orphanet:316 Orphanet:98352 obsolete autosomal dominant disease with diffuse palmoplantar keratoderma as a major feature +MONDO:0017851 erythrokeratodermia variabilis MONDO:0020225 Orphanet:317 Orphanet:98641 obsolete syndromic cataract +MONDO:0017852 infantile spasms-broad thumbs syndrome MONDO:0020225 Orphanet:3173 Orphanet:98641 obsolete syndromic cataract +MONDO:0017853 hypersensitivity pneumonitis MONDO:0017040 Orphanet:31740 Orphanet:264984 obsolete exposure-related interstitial lung disease +MONDO:0017853 hypersensitivity pneumonitis MONDO:0020028 Orphanet:31740 Orphanet:98052 obsolete rare allergic respiratory disease +MONDO:0017856 X-linked spasticity-intellectual disability-epilepsy syndrome MONDO:0015921 Orphanet:3175 Orphanet:182079 obsolete ARX-related epileptic encephalopathy +MONDO:0017856 X-linked spasticity-intellectual disability-epilepsy syndrome MONDO:0035862 Orphanet:3175 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome +MONDO:0017857 spina bifida-hypospadias syndrome MONDO:0015620 Orphanet:3176 Orphanet:165707 obsolete syndromic urogenital tract malformation +MONDO:0017857 spina bifida-hypospadias syndrome MONDO:0017120 Orphanet:3176 Orphanet:269531 obsolete other syndrome with a central nervous system malformation as major feature +MONDO:0017857 spina bifida-hypospadias syndrome MONDO:8000032 Orphanet:3176 Orphanet:377789 obsolete malformation syndrome +MONDO:0017859 colchicine poisoning MONDO:0017633 Orphanet:31824 Orphanet:306640 obsolete rare intoxication due to medical products +MONDO:0017859 colchicine poisoning MONDO:0032014 Orphanet:31824 Orphanet:377793 obsolete particular clinical situation in a disease or syndrome +MONDO:0017860 methanol poisoning MONDO:0035328 Orphanet:31825 Orphanet:556508 obsolete rare disorder due to poisoning +MONDO:0017861 ethylene glycol poisoning MONDO:0035328 Orphanet:31826 Orphanet:556508 obsolete rare disorder due to poisoning +MONDO:0017862 paraquat poisoning MONDO:0035328 Orphanet:31827 Orphanet:556508 obsolete rare disorder due to poisoning +MONDO:0017863 digitalis poisoning MONDO:0017633 Orphanet:31828 Orphanet:306640 obsolete rare intoxication due to medical products +MONDO:0017863 digitalis poisoning MONDO:0032014 Orphanet:31828 Orphanet:377793 obsolete particular clinical situation in a disease or syndrome +MONDO:0017864 congenital pulmonary veins atresia or stenosis MONDO:0015930 Orphanet:3188 Orphanet:182111 obsolete respiratory malformation +MONDO:0017865 congenital pulmonary valve stenosis MONDO:0020287 Orphanet:3189 Orphanet:98719 obsolete pulmonary artery or pulmonary branch anomaly +MONDO:0017865 congenital pulmonary valve stenosis MONDO:8000030 Orphanet:3189 Orphanet:377791 obsolete morphological anomaly +MONDO:0017866 subpulmonary stenosis MONDO:8000031 Orphanet:3190 Orphanet:557494 obsolete subtype of a disorder +MONDO:0017867 distal 17p13.1 microdeletion syndrome MONDO:0035863 Orphanet:319171 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0017867 distal 17p13.1 microdeletion syndrome MONDO:8000032 Orphanet:319171 Orphanet:377789 obsolete malformation syndrome +MONDO:0017868 diencephalic-mesencephalic junction dysplasia MONDO:0016054 Orphanet:319192 Orphanet:199633 obsolete cerebral malformation +MONDO:0017868 diencephalic-mesencephalic junction dysplasia MONDO:8000030 Orphanet:319192 Orphanet:377791 obsolete morphological anomaly +MONDO:0017869 chondroectodermal dysplasia with night blindness MONDO:0019704 Orphanet:319195 Orphanet:93446 obsolete primary bone dysplasia with decreased bone density +MONDO:0017870 supravalvular pulmonary stenosis MONDO:8000031 Orphanet:3192 Orphanet:557494 obsolete subtype of a disorder +MONDO:0017871 bilateral massive adrenal hemorrhage MONDO:8000031 Orphanet:319205 Orphanet:557494 obsolete subtype of a disorder +MONDO:0017891 obsolete inherited renal cancer-predisposing syndrome MONDO:0015356 Orphanet:319328 Orphanet:140162 hereditary neoplastic syndrome +MONDO:0017891 obsolete inherited renal cancer-predisposing syndrome MONDO:0019750 Orphanet:319328 Orphanet:93626 obsolete rare renal disease +MONDO:0017893 inherited acute myeloid leukemia MONDO:0030767 Orphanet:319465 Orphanet:322126 obsolete genetic tumor of hematopoietic and lymphoid tissues +MONDO:0017894 acute myeloid leukemia with CEBPA somatic mutations MONDO:0020078 Orphanet:319480 Orphanet:98277 obsolete acute myeloid leukemia with recurrent genetic anomaly +MONDO:0017894 acute myeloid leukemia with CEBPA somatic mutations MONDO:0030767 Orphanet:319480 Orphanet:322126 obsolete genetic tumor of hematopoietic and lymphoid tissues +MONDO:0017896 familial nonmedullary thyroid carcinoma MONDO:0025511 Orphanet:319494 Orphanet:271847 obsolete inherited neuroendocrine tumor +MONDO:0017897 obsolete autosomal recessive mendelian susceptibility to mycobacterial diseases due to a complete deficiency MONDO:0019146 Orphanet:319535 Orphanet:748 inherited susceptibility to mycobacterial diseases +MONDO:0017898 obsolete autosomal recessive mendelian susceptibility to mycobacterial diseases due to a partial deficiency MONDO:0019146 Orphanet:319539 Orphanet:748 inherited susceptibility to mycobacterial diseases +MONDO:0017899 obsolete autosomal dominant mendelian susceptibility to mycobacterial diseases due to a partial deficiency MONDO:0019146 Orphanet:319543 Orphanet:748 inherited susceptibility to mycobacterial diseases +MONDO:0017900 autosomal recessive Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR2 deficiency MONDO:0017897 Orphanet:319547 Orphanet:319535 obsolete autosomal recessive mendelian susceptibility to mycobacterial diseases due to a complete deficiency +MONDO:0017901 autosomal recessive Mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency MONDO:0017898 Orphanet:319569 Orphanet:319539 obsolete autosomal recessive mendelian susceptibility to mycobacterial diseases due to a partial deficiency +MONDO:0017902 autosomal recessive Mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR2 deficiency MONDO:0017898 Orphanet:319574 Orphanet:319539 obsolete autosomal recessive mendelian susceptibility to mycobacterial diseases due to a partial deficiency +MONDO:0017903 autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR2 deficiency MONDO:0017899 Orphanet:319589 Orphanet:319543 obsolete autosomal dominant mendelian susceptibility to mycobacterial diseases due to a partial deficiency +MONDO:0017904 steroid dehydrogenase deficiency-dental anomalies syndrome MONDO:0015115 Orphanet:3196 Orphanet:101940 obsolete rare genetic metabolic liver disease +MONDO:0017904 steroid dehydrogenase deficiency-dental anomalies syndrome MONDO:0015336 Orphanet:3196 Orphanet:139042 obsolete malformation syndrome with odontal and/or periodontal component +MONDO:0017904 steroid dehydrogenase deficiency-dental anomalies syndrome MONDO:0026190 Orphanet:3196 Orphanet:183580 obsolete genetic malformation syndrome with odontal and/or periodontal component +MONDO:0017909 inherited glutathione synthetase deficiency MONDO:0020105 Orphanet:32 Orphanet:98370 obsolete hemolytic anemia due to hexose monophosphate shunt and glutathione metabolism anomalies +MONDO:0017909 inherited glutathione synthetase deficiency MONDO:0035862 Orphanet:32 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome +MONDO:0017912 obsolete X-linked pure spastic paraplegia MONDO:0015149 Orphanet:320332 Orphanet:102012 pure hereditary spastic paraplegia +MONDO:0017914 obsolete pure or complex autosomal dominant spastic paraplegia MONDO:0017913 Orphanet:320342 Orphanet:320335 pure or complex hereditary spastic paraplegia +MONDO:0017915 obsolete pure or complex autosomal recessive spastic paraplegia MONDO:0017913 Orphanet:320346 Orphanet:320335 pure or complex hereditary spastic paraplegia +MONDO:0017916 obsolete pure or complex X-linked spastic paraplegia MONDO:0017913 Orphanet:320350 Orphanet:320335 pure or complex hereditary spastic paraplegia +MONDO:0017918 white matter hypoplasia-corpus callosum agenesis-intellectual disability syndrome MONDO:0016055 Orphanet:3207 Orphanet:199639 obsolete syndrome with corpus callosum agenesis /dysgenesis as a major feature +MONDO:0017918 white matter hypoplasia-corpus callosum agenesis-intellectual disability syndrome MONDO:0035863 Orphanet:3207 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0017918 white matter hypoplasia-corpus callosum agenesis-intellectual disability syndrome MONDO:8000032 Orphanet:3207 Orphanet:377789 obsolete malformation syndrome +MONDO:0017919 exstrophy-epispadias complex MONDO:0015215 Orphanet:322 Orphanet:108977 obsolete non-syndromic diaphragmatic or abdominal wall malformation +MONDO:0017919 exstrophy-epispadias complex MONDO:0015934 Orphanet:322 Orphanet:182124 obsolete non-syndromic urogenital tract malformation of male and female +MONDO:0017919 exstrophy-epispadias complex MONDO:0019720 Orphanet:322 Orphanet:93546 obsolete non-syndromic renal or urinary tract malformation +MONDO:0017919 exstrophy-epispadias complex MONDO:8000032 Orphanet:322 Orphanet:377789 obsolete malformation syndrome +MONDO:0017920 deafness-genital anomalies-metacarpal and metatarsal synostosis syndrome MONDO:0015620 Orphanet:3224 Orphanet:165707 obsolete syndromic urogenital tract malformation +MONDO:0017920 deafness-genital anomalies-metacarpal and metatarsal synostosis syndrome MONDO:0019589 Orphanet:3224 Orphanet:90642 obsolete syndromic genetic hearing loss +MONDO:0017920 deafness-genital anomalies-metacarpal and metatarsal synostosis syndrome MONDO:0035863 Orphanet:3224 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0017920 deafness-genital anomalies-metacarpal and metatarsal synostosis syndrome MONDO:8000032 Orphanet:3224 Orphanet:377789 obsolete malformation syndrome +MONDO:0017921 hearing loss-familial salivary gland insensitivity to aldosterone syndrome MONDO:0019589 Orphanet:3225 Orphanet:90642 obsolete syndromic genetic hearing loss +MONDO:0017921 hearing loss-familial salivary gland insensitivity to aldosterone syndrome MONDO:8000032 Orphanet:3225 Orphanet:377789 obsolete malformation syndrome +MONDO:0017922 obsolete deafness-onychodystrophy syndrome MONDO:0015159 Orphanet:3231 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0017922 obsolete deafness-onychodystrophy syndrome MONDO:0019285 Orphanet:3231 Orphanet:79370 obsolete syndromic nail anomaly +MONDO:0017922 obsolete deafness-onychodystrophy syndrome MONDO:0019287 Orphanet:3231 Orphanet:79373 ectodermal dysplasia syndrome +MONDO:0017922 obsolete deafness-onychodystrophy syndrome MONDO:0019589 Orphanet:3231 Orphanet:90642 obsolete syndromic genetic hearing loss +MONDO:0017922 obsolete deafness-onychodystrophy syndrome MONDO:0020225 Orphanet:3231 Orphanet:98641 obsolete syndromic cataract +MONDO:0017922 obsolete deafness-onychodystrophy syndrome MONDO:0035863 Orphanet:3231 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0017923 multiple synostoses syndrome MONDO:0019589 Orphanet:3237 Orphanet:90642 obsolete syndromic genetic hearing loss +MONDO:0017923 multiple synostoses syndrome MONDO:0800095 Orphanet:3237 Orphanet:93459 obsolete syndrome with synostosis or other joint formation defect +MONDO:0017923 multiple synostoses syndrome MONDO:8000032 Orphanet:3237 Orphanet:377789 obsolete malformation syndrome +MONDO:0017924 central nervous system calcification-deafness-tubular acidosis-anemia syndrome MONDO:0017828 Orphanet:3240 Orphanet:314822 obsolete primary renal tubular acidosis +MONDO:0017924 central nervous system calcification-deafness-tubular acidosis-anemia syndrome MONDO:0019589 Orphanet:3240 Orphanet:90642 obsolete syndromic genetic hearing loss +MONDO:0017924 central nervous system calcification-deafness-tubular acidosis-anemia syndrome MONDO:0035862 Orphanet:3240 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome +MONDO:0017925 T-cell immunodeficiency with epidermodysplasia verruciformis MONDO:0018033 Orphanet:324294 Orphanet:331193 obsolete other immunodeficiency syndromes due to defects in innate immunity +MONDO:0017926 multiple paragangliomas associated with polycythemia MONDO:0015971 Orphanet:324299 Orphanet:183637 obsolete rare genetic adrenal disease +MONDO:0017926 multiple paragangliomas associated with polycythemia MONDO:0025511 Orphanet:324299 Orphanet:271847 obsolete inherited neuroendocrine tumor +MONDO:0017926 multiple paragangliomas associated with polycythemia MONDO:0027929 Orphanet:324299 Orphanet:250165 obsolete genetic polycythemia +MONDO:0017927 severe lateral tibial bowing with short stature MONDO:8000032 Orphanet:324307 Orphanet:377789 obsolete malformation syndrome +MONDO:0017928 9p13 microdeletion syndrome MONDO:0016891 Orphanet:324313 Orphanet:261929 obsolete partial deletion of the short arm of chromosome 9 +MONDO:0017928 9p13 microdeletion syndrome MONDO:0035863 Orphanet:324313 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0017928 9p13 microdeletion syndrome MONDO:8000032 Orphanet:324313 Orphanet:377789 obsolete malformation syndrome +MONDO:0017929 congenital achiasma MONDO:0020132 Orphanet:324353 Orphanet:98518 obsolete cranial nerve and nuclear aplasia +MONDO:0017929 congenital achiasma MONDO:8000030 Orphanet:324353 Orphanet:377791 obsolete morphological anomaly +MONDO:0017930 mixed sclerosing bone dystrophy with extra-skeletal manifestations MONDO:0800084 Orphanet:324364 Orphanet:93444 obsolete primary bone dysplasia with increased bone density +MONDO:0017932 muscular hypertrophy-hepatomegaly-polyhydramnios syndrome MONDO:0035863 Orphanet:324416 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0017932 muscular hypertrophy-hepatomegaly-polyhydramnios syndrome MONDO:8000032 Orphanet:324416 Orphanet:377789 obsolete malformation syndrome +MONDO:0017933 hypertrophic cardiomyopathy and renal tubular disease due to mitochondrial DNA mutation MONDO:0016327 Orphanet:324525 Orphanet:217587 obsolete mitochondrial disease with hypertrophic cardiomyopathy +MONDO:0017933 hypertrophic cardiomyopathy and renal tubular disease due to mitochondrial DNA mutation MONDO:0016793 Orphanet:324525 Orphanet:254776 obsolete mitochondrial oxidative phosphorylation disorder due to a point mutation of mitochondrial DNA +MONDO:0017933 hypertrophic cardiomyopathy and renal tubular disease due to mitochondrial DNA mutation MONDO:0019743 Orphanet:324525 Orphanet:93593 obsolete nephropathy secondary to a storage or other metabolic disease +MONDO:0017933 hypertrophic cardiomyopathy and renal tubular disease due to mitochondrial DNA mutation MONDO:0019744 Orphanet:324525 Orphanet:93603 obsolete rare renal tubular disease +MONDO:0017934 aphonia-deafness-retinal dystrophy-bifid halluces-intellectual disability syndrome MONDO:0035863 Orphanet:324540 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0017934 aphonia-deafness-retinal dystrophy-bifid halluces-intellectual disability syndrome MONDO:8000032 Orphanet:324540 Orphanet:377789 obsolete malformation syndrome +MONDO:0017939 classic multiminicore myopathy MONDO:8000031 Orphanet:324604 Orphanet:557494 obsolete subtype of a disorder +MONDO:0017943 autoerythrocyte sensitization syndrome MONDO:0017841 Orphanet:324636 Orphanet:315350 obsolete autoimmune disease with skin involvement +MONDO:0017945 ABetaL34V amyloidosis MONDO:8000031 Orphanet:324703 Orphanet:557494 obsolete subtype of a disorder +MONDO:0017946 ABeta amyloidosis, Iowa type MONDO:8000031 Orphanet:324708 Orphanet:557494 obsolete subtype of a disorder +MONDO:0017947 ABeta amyloidosis, Italian type MONDO:8000031 Orphanet:324713 Orphanet:557494 obsolete subtype of a disorder +MONDO:0017948 ABetaA21G amyloidosis MONDO:8000031 Orphanet:324718 Orphanet:557494 obsolete subtype of a disorder +MONDO:0017949 ABeta amyloidosis, Arctic type MONDO:8000031 Orphanet:324723 Orphanet:557494 obsolete subtype of a disorder +MONDO:0017950 obsolete microcephalic primordial dwarfism MONDO:0015159 Orphanet:324761 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0017950 obsolete microcephalic primordial dwarfism MONDO:0017119 Orphanet:324761 Orphanet:269528 obsolete syndrome with microcephaly as major feature +MONDO:0017950 obsolete microcephalic primordial dwarfism MONDO:0035863 Orphanet:324761 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0017952 obsolete non-familial rare disease with dilated cardiomyopathy MONDO:0016338 Orphanet:324767 Orphanet:217629 non-familial dilated cardiomyopathy +MONDO:0017954 obsolete pyogenic autoinflammatory syndrome MONDO:0019751 Orphanet:324927 Orphanet:93665 autoinflammatory syndrome +MONDO:0017955 obsolete granulomatous autoinflammatory syndrome MONDO:0019751 Orphanet:324930 Orphanet:93665 autoinflammatory syndrome +MONDO:0017956 obsolete mixed autoinflammatory and autoimmune syndrome MONDO:0019751 Orphanet:324933 Orphanet:93665 autoinflammatory syndrome +MONDO:0017956 obsolete mixed autoinflammatory and autoimmune syndrome MONDO:0957018 Orphanet:324933 Orphanet:319719 autoinflammatory syndrome of childhood +MONDO:0017957 obsolete unclassified autoinflammatory syndrome MONDO:0019751 Orphanet:324936 Orphanet:93665 autoinflammatory syndrome +MONDO:0017958 magic syndrome MONDO:0017957 Orphanet:324972 Orphanet:324936 obsolete unclassified autoinflammatory syndrome +MONDO:0017961 obsolete 46,XX disorder of gonadal development MONDO:0017576 Orphanet:325055 Orphanet:2982 46,XX disorder of sex development +MONDO:0017961 obsolete 46,XX disorder of gonadal development MONDO:0957024 Orphanet:325055 Orphanet:325697 obsolete hereditary 46,XX disorder of sex development +MONDO:0017962 obsolete 46,XX disorder of sex development induced by fetoplacental androgens excess MONDO:0020039 Orphanet:325061 Orphanet:98078 obsolete 46,XX disorder of sex development induced by androgens excess +MONDO:0017962 obsolete 46,XX disorder of sex development induced by fetoplacental androgens excess MONDO:0031004 Orphanet:325061 Orphanet:325665 obsolete genetic disorder of sex development of gynecological interest +MONDO:0017962 obsolete 46,XX disorder of sex development induced by fetoplacental androgens excess MONDO:0957024 Orphanet:325061 Orphanet:325697 obsolete hereditary 46,XX disorder of sex development +MONDO:0017963 obsolete 46,XX disorder of sex development induced by endogenous maternal-derived androgen MONDO:0019608 Orphanet:325093 Orphanet:91144 obsolete 46,XX disorder of sex development induced by maternal-derived androgen +MONDO:0017964 obsolete 46,XX disorder of sex development induced by exogenous maternal-derived androgen MONDO:0019608 Orphanet:325099 Orphanet:91144 obsolete 46,XX disorder of sex development induced by maternal-derived androgen +MONDO:0017965 obsolete syndrome with 46,XX disorder of sex development MONDO:0017576 Orphanet:325109 Orphanet:2982 46,XX disorder of sex development +MONDO:0017965 obsolete syndrome with 46,XX disorder of sex development MONDO:0957024 Orphanet:325109 Orphanet:325697 obsolete hereditary 46,XX disorder of sex development +MONDO:0017966 obsolete 46,XY disorder of gonadal development MONDO:0020040 Orphanet:325118 Orphanet:98085 46,XY disorder of sex development +MONDO:0017966 obsolete 46,XY disorder of gonadal development MONDO:0957025 Orphanet:325118 Orphanet:325706 obsolete hereditary 46,XY disorder of sex development +MONDO:0017967 testicular agenesis MONDO:0017966 Orphanet:325124 Orphanet:325118 obsolete 46,XY disorder of gonadal development +MONDO:0017967 testicular agenesis MONDO:0020090 Orphanet:325124 Orphanet:98313 obsolete male infertility due to gonadal dysgenesis +MONDO:0017967 testicular agenesis MONDO:8000030 Orphanet:325124 Orphanet:377791 obsolete morphological anomaly +MONDO:0017968 46,XY ovotesticular disorder of sex development MONDO:0017966 Orphanet:325345 Orphanet:325118 obsolete 46,XY disorder of gonadal development +MONDO:0017968 46,XY ovotesticular disorder of sex development MONDO:0020038 Orphanet:325345 Orphanet:98074 obsolete gonadal dysgenesis of gynecological interest +MONDO:0017969 obsolete 46,XY disorder of sex development of endocrine origin MONDO:0020040 Orphanet:325351 Orphanet:98085 46,XY disorder of sex development +MONDO:0017970 obsolete 46,XY disorder of sex development due to impaired androgen production MONDO:0017969 Orphanet:325357 Orphanet:325351 obsolete 46,XY disorder of sex development of endocrine origin +MONDO:0017971 obsolete 46,XY disorder of sex development due to a cholesterol synthesis defect MONDO:0019594 Orphanet:325511 Orphanet:90783 obsolete 46,XY disorder of sex development due to a testosterone synthesis defect +MONDO:0017972 classic congenital lipoid adrenal hyperplasia due to STAR deficency MONDO:8000031 Orphanet:325524 Orphanet:557494 obsolete subtype of a disorder +MONDO:0017973 non-classic congenital lipoid adrenal hyperplasia due to STAR deficency MONDO:0018387 Orphanet:325529 Orphanet:399584 obsolete rare male infertility due to adrenal disorder +MONDO:0017973 non-classic congenital lipoid adrenal hyperplasia due to STAR deficency MONDO:0018406 Orphanet:325529 Orphanet:399994 obsolete rare male infertility due to adrenal disorder of genetic origin +MONDO:0017973 non-classic congenital lipoid adrenal hyperplasia due to STAR deficency MONDO:8000031 Orphanet:325529 Orphanet:557494 obsolete subtype of a disorder +MONDO:0017974 obsolete 46,XY disorder of sex development induced by maternal-exposure to endocrine disruptors MONDO:0017969 Orphanet:325537 Orphanet:325351 obsolete 46,XY disorder of sex development of endocrine origin +MONDO:0017975 sex chromosome disorder of sex development MONDO:0031016 Orphanet:325546 Orphanet:325690 obsolete genetic disorder of sex development +MONDO:0017976 obsolete disorder of sex development of gynecological interest MONDO:0019937 Orphanet:325620 Orphanet:96344 obsolete rare gynecologic or obstetric disease +MONDO:0017977 obsolete 46,XY disorder of sex development of gynecological interest MONDO:0017976 Orphanet:325632 Orphanet:325620 obsolete disorder of sex development of gynecological interest +MONDO:0017977 obsolete 46,XY disorder of sex development of gynecological interest MONDO:0031004 Orphanet:325632 Orphanet:325665 obsolete genetic disorder of sex development of gynecological interest +MONDO:0017978 obsolete syndrome with disorder of sex development of gynecological interest MONDO:0017976 Orphanet:325638 Orphanet:325620 obsolete disorder of sex development of gynecological interest +MONDO:0017978 obsolete syndrome with disorder of sex development of gynecological interest MONDO:0031004 Orphanet:325638 Orphanet:325665 obsolete genetic disorder of sex development of gynecological interest +MONDO:0017979 autoimmune lymphoproliferative syndrome MONDO:0015709 Orphanet:3261 Orphanet:169355 obsolete immunodeficiency syndrome with autoimmunity +MONDO:0017980 syngnathia multiple anomalies MONDO:0800085 Orphanet:3262 Orphanet:93453 obsolete dysostosis with predominant craniofacial involvement +MONDO:0017980 syngnathia multiple anomalies MONDO:8000032 Orphanet:3262 Orphanet:377789 obsolete malformation syndrome +MONDO:0017981 syngnathia-cleft palate syndrome MONDO:0015335 Orphanet:3263 Orphanet:139039 obsolete Mendelian syndromes with cleft lip/palate +MONDO:0017981 syngnathia-cleft palate syndrome MONDO:8000032 Orphanet:3263 Orphanet:377789 obsolete malformation syndrome +MONDO:0017983 humero-radio-ulnar synostosis MONDO:0017429 Orphanet:3266 Orphanet:294949 obsolete joint formation defects +MONDO:0017983 humero-radio-ulnar synostosis MONDO:8000030 Orphanet:3266 Orphanet:377791 obsolete morphological anomaly +MONDO:0017985 congenital radioulnar synostosis MONDO:0017429 Orphanet:3269 Orphanet:294949 obsolete joint formation defects +MONDO:0017985 congenital radioulnar synostosis MONDO:8000030 Orphanet:3269 Orphanet:377791 obsolete morphological anomaly +MONDO:0017987 syringomyelia MONDO:0015141 Orphanet:3280 Orphanet:102000 obsolete disorder of medulla oblongata +MONDO:0017988 multifocal atrial tachycardia MONDO:0016348 Orphanet:3282 Orphanet:218439 obsolete non-genetic cardiac rhythm disease +MONDO:0017989 His bundle tachycardia MONDO:0015110 Orphanet:3283 Orphanet:101934 obsolete genetic cardiac rhythm disease +MONDO:0017990 catecholaminergic polymorphic ventricular tachycardia MONDO:0015110 Orphanet:3286 Orphanet:101934 obsolete genetic cardiac rhythm disease +MONDO:0017991 Takayasu arteritis MONDO:0015488 Orphanet:3287 Orphanet:156140 obsolete predominantly large-vessel vasculitis +MONDO:0017991 Takayasu arteritis MONDO:8000030 Orphanet:99079 Orphanet:377791 obsolete morphological anomaly +MONDO:0017992 autoinflammatory syndrome with pyogenic bacterial infection and amylopectinosis MONDO:0017956 Orphanet:329173 Orphanet:324933 obsolete mixed autoinflammatory and autoimmune syndrome +MONDO:0017992 autoinflammatory syndrome with pyogenic bacterial infection and amylopectinosis MONDO:0018035 Orphanet:329173 Orphanet:331217 obsolete syndrome with combined immunodeficiency +MONDO:0017993 cerebral sinovenous thrombosis MONDO:0019110 Orphanet:329217 Orphanet:71281 obsolete rare central nervous system or retinal vascular disease +MONDO:0017994 severe early-onset obesity-insulin resistance syndrome due to SH2B1 deficiency MONDO:0020075 Orphanet:329249 Orphanet:98267 obsolete hereditary non-syndromic obesity +MONDO:0017994 severe early-onset obesity-insulin resistance syndrome due to SH2B1 deficiency MONDO:8000031 Orphanet:329249 Orphanet:557494 obsolete subtype of a disorder +MONDO:0017997 telecanthus-hypertelorism-strabismus-pes cavus syndrome MONDO:0020253 Orphanet:3293 Orphanet:98683 obsolete syndrome with a symptomatic strabismus +MONDO:0017997 telecanthus-hypertelorism-strabismus-pes cavus syndrome MONDO:0035863 Orphanet:3293 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0017997 telecanthus-hypertelorism-strabismus-pes cavus syndrome MONDO:8000032 Orphanet:3293 Orphanet:377789 obsolete malformation syndrome +MONDO:0017998 PLA2G6-associated neurodegeneration MONDO:0018118 Orphanet:329303 Orphanet:352306 obsolete disorder of phospholipids, sphingolipids and fatty acids biosynthesis with central nervous system predominant involvement +MONDO:0017999 fatty acid hydroxylase-associated neurodegeneration MONDO:0015089 Orphanet:329308 Orphanet:100981 obsolete autosomal recessive complex spastic paraplegia +MONDO:0017999 fatty acid hydroxylase-associated neurodegeneration MONDO:0018118 Orphanet:329308 Orphanet:352306 obsolete disorder of phospholipids, sphingolipids and fatty acids biosynthesis with central nervous system predominant involvement +MONDO:0017999 fatty acid hydroxylase-associated neurodegeneration MONDO:0018609 Orphanet:329308 Orphanet:441434 obsolete syndromic hereditary optic neuropathy +MONDO:0018000 hereditary thrombocytosis with transverse limb defect MONDO:0016636 Orphanet:329319 Orphanet:248401 obsolete thrombotic disorder due to a constitutional platelet anomaly +MONDO:0018000 hereditary thrombocytosis with transverse limb defect MONDO:0017432 Orphanet:329319 Orphanet:294955 obsolete syndrome with limb reduction defects +MONDO:0018001 inverse Klippel-Trenaunay syndrome MONDO:0016524 Orphanet:329324 Orphanet:235832 obsolete congenital vascular bone syndrome +MONDO:0018001 inverse Klippel-Trenaunay syndrome MONDO:0018718 Orphanet:329324 Orphanet:458827 obsolete vascular tumor with associated anomalies +MONDO:0018002 adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy MONDO:0016792 Orphanet:329336 Orphanet:254767 obsolete mitochondrial oxidative phosphorylation disorder due to a large-scale single deletion of mitochondrial DNA +MONDO:0018002 adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy MONDO:0019058 Orphanet:329336 Orphanet:68385 obsolete neurometabolic disease +MONDO:0018002 adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy MONDO:0019589 Orphanet:329336 Orphanet:90642 obsolete syndromic genetic hearing loss +MONDO:0018004 acute megakaryoblastic leukemia without down syndrome MONDO:8000031 Orphanet:329469 Orphanet:557494 obsolete subtype of a disorder +MONDO:0018005 spastic paraplegia-Paget disease of bone syndrome MONDO:0800084 Orphanet:329475 Orphanet:93444 obsolete primary bone dysplasia with increased bone density +MONDO:0018005 spastic paraplegia-Paget disease of bone syndrome MONDO:0800089 Orphanet:329475 Orphanet:93450 obsolete primary bone dysplasia with disorganized development of skeletal components +MONDO:0018007 mosaic genome-wide paternal uniparental disomy MONDO:0020055 Orphanet:329813 Orphanet:98152 obsolete autosomal uniparental disomy +MONDO:0018007 mosaic genome-wide paternal uniparental disomy MONDO:8000032 Orphanet:329813 Orphanet:377789 obsolete malformation syndrome +MONDO:0018009 non-hypoproteinemic hypertrophic gastropathy MONDO:0015111 Orphanet:329883 Orphanet:101936 obsolete gastroesophageal disease +MONDO:0018013 non-immunoglobulin-mediated membranoproliferative glomerulonephritis MONDO:8000031 Orphanet:329918 Orphanet:557494 obsolete subtype of a disorder +MONDO:0018015 intermittent hydrarthrosis MONDO:0015940 Orphanet:329967 Orphanet:182231 obsolete rare rheumatologic disease +MONDO:0018015 intermittent hydrarthrosis MONDO:0028795 Orphanet:329967 Orphanet:271870 obsolete rare genetic systemic or rheumatologic disease +MONDO:0018016 classic neuroendocrine tumor of appendix MONDO:8000031 Orphanet:329977 Orphanet:557494 obsolete subtype of a disorder +MONDO:0018017 goblet cell carcinoma MONDO:8000031 Orphanet:329984 Orphanet:557494 obsolete subtype of a disorder +MONDO:0018019 lead poisoning MONDO:0035328 Orphanet:330015 Orphanet:556508 obsolete rare disorder due to poisoning +MONDO:0018020 mercury poisoning MONDO:0035328 Orphanet:330021 Orphanet:556508 obsolete rare disorder due to poisoning +MONDO:0018021 hypotrichosis-deafness syndrome MONDO:0019285 Orphanet:330029 Orphanet:79370 obsolete syndromic nail anomaly +MONDO:0018021 hypotrichosis-deafness syndrome MONDO:0019589 Orphanet:330029 Orphanet:90642 obsolete syndromic genetic hearing loss +MONDO:0018021 hypotrichosis-deafness syndrome MONDO:0021034 Orphanet:330029 Orphanet:481771 obsolete hereditary alopecia +MONDO:0018022 hemoglobin Lepore-beta-thalassemia syndrome MONDO:0016488 Orphanet:330032 Orphanet:231230 obsolete beta-thalassemia associated with another hemoglobin anomaly +MONDO:0018023 hemoglobin M disease MONDO:0034039 Orphanet:330041 Orphanet:466066 obsolete genetic hemoglobinopathy +MONDO:0018024 hydroa vacciniforme MONDO:0019304 Orphanet:330058 Orphanet:79390 obsolete rare photodermatosis +MONDO:0018025 chronic actinic dermatitis MONDO:0019304 Orphanet:330064 Orphanet:79390 obsolete rare photodermatosis +MONDO:0018026 tetraploidy syndrome MONDO:8000032 Orphanet:3305 Orphanet:377789 obsolete malformation syndrome +MONDO:0018027 duplication/inversion 15q11 MONDO:0015652 Orphanet:3306 Orphanet:166469 obsolete chromosomal anomaly with epilepsy as a major feature +MONDO:0018027 duplication/inversion 15q11 MONDO:0015878 Orphanet:3306 Orphanet:180772 obsolete rare disease with autism +MONDO:0018027 duplication/inversion 15q11 MONDO:0016998 Orphanet:3306 Orphanet:263708 obsolete complex chromosomal rearrangement +MONDO:0018027 duplication/inversion 15q11 MONDO:8000032 Orphanet:3306 Orphanet:377789 obsolete malformation syndrome +MONDO:0018028 tetrasomy 5p MONDO:0020226 Orphanet:3309 Orphanet:98642 obsolete chromosomal anomaly with cataract +MONDO:0018028 tetrasomy 5p MONDO:8000032 Orphanet:3309 Orphanet:377789 obsolete malformation syndrome +MONDO:0018029 congenital factor XIII deficiency MONDO:0019039 Orphanet:331 Orphanet:68334 obsolete rare hemorrhagic disorder due to a constitutional coagulation factors defect +MONDO:0018030 tetrasomy 9p MONDO:8000032 Orphanet:3310 Orphanet:377789 obsolete malformation syndrome +MONDO:0018032 obsolete constitutional neutropenia with extra-hematopoietic manifestations MONDO:0015134 Orphanet:331184 Orphanet:101987 constitutional neutropenia +MONDO:0018033 obsolete other immunodeficiency syndromes due to defects in innate immunity MONDO:0015135 Orphanet:331193 Orphanet:101988 obsolete primary immunodeficiency due to a genetic defect in innate immunity +MONDO:0018034 thalidomide embryopathy MONDO:0017432 Orphanet:3312 Orphanet:294955 obsolete syndrome with limb reduction defects +MONDO:0018034 thalidomide embryopathy MONDO:8000032 Orphanet:3312 Orphanet:377789 obsolete malformation syndrome +MONDO:0018035 obsolete syndrome with combined immunodeficiency MONDO:0015823 Orphanet:331217 Orphanet:179006 obsolete primary immunodeficiency due to a defect in adaptive immunity +MONDO:0018036 obsolete immunodeficiency due to absence of thymus MONDO:0018035 Orphanet:331220 Orphanet:331217 obsolete syndrome with combined immunodeficiency +MONDO:0018037 hyper-IgE syndrome MONDO:0018035 Orphanet:331223 Orphanet:331217 obsolete syndrome with combined immunodeficiency +MONDO:0018038 obsolete immunodeficiency with isotype or light chain deficiencies with normal number of B-cells MONDO:0015132 Orphanet:331232 Orphanet:101977 obsolete immunodeficiency predominantly affecting antibody production +MONDO:0018039 selective IgM deficiency MONDO:0018038 Orphanet:331235 Orphanet:331232 obsolete immunodeficiency with isotype or light chain deficiencies with normal number of B-cells +MONDO:0018040 obsolete immunodeficiency with severe reduction in serum IgG and IgA with normal/elevated IgM and normal number of B-cells MONDO:0015132 Orphanet:331240 Orphanet:101977 obsolete immunodeficiency predominantly affecting antibody production +MONDO:0018041 obsolete other immunodeficiency syndrome with predominantly antibody defects MONDO:0015132 Orphanet:331244 Orphanet:101977 obsolete immunodeficiency predominantly affecting antibody production +MONDO:0018042 obsolete immunodeficiency syndrome with abnormal pigmentation MONDO:0015541 Orphanet:331249 Orphanet:158038 hereditary hemophagocytic lymphohistiocytosis +MONDO:0018043 Thomas syndrome MONDO:0015335 Orphanet:3316 Orphanet:139039 obsolete Mendelian syndromes with cleft lip/palate +MONDO:0018043 Thomas syndrome MONDO:0015506 Orphanet:3316 Orphanet:156532 obsolete rare syndrome with cardiac malformations +MONDO:0018043 Thomas syndrome MONDO:0019721 Orphanet:3316 Orphanet:93547 obsolete syndromic renal or urinary tract malformation +MONDO:0018043 Thomas syndrome MONDO:0043008 Orphanet:3316 Orphanet:330206 obsolete genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability +MONDO:0018043 Thomas syndrome MONDO:8000032 Orphanet:3316 Orphanet:377789 obsolete malformation syndrome +MONDO:0018044 idiopathic hypersomnia MONDO:0019045 Orphanet:33208 Orphanet:68354 obsolete rare sleep disorder +MONDO:0018045 Hoyeraal-Hreidarsson syndrome MONDO:0017118 Orphanet:3322 Orphanet:269523 obsolete syndrome with a cerebellar malformation as major feature +MONDO:0018045 Hoyeraal-Hreidarsson syndrome MONDO:0018035 Orphanet:3322 Orphanet:331217 obsolete syndrome with combined immunodeficiency +MONDO:0018045 Hoyeraal-Hreidarsson syndrome MONDO:0035862 Orphanet:3322 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome +MONDO:0018047 familial thrombomodulin anomalies MONDO:0016633 Orphanet:3324 Orphanet:248361 obsolete thrombotic disorder due to a constitutional coagulation factors defect +MONDO:0018048 heparin-induced thrombocytopenia MONDO:0016634 Orphanet:3325 Orphanet:248365 obsolete thrombotic disorder due to an acquired coagulation factors defect +MONDO:0018050 tibial aplasia-ectrodactyly syndrome MONDO:0015335 Orphanet:3329 Orphanet:139039 obsolete Mendelian syndromes with cleft lip/palate +MONDO:0018050 tibial aplasia-ectrodactyly syndrome MONDO:0017432 Orphanet:3329 Orphanet:294955 obsolete syndrome with limb reduction defects +MONDO:0018050 tibial aplasia-ectrodactyly syndrome MONDO:0017433 Orphanet:3329 Orphanet:294957 obsolete dysostosis with combined reduction defects of upper and lower limbs +MONDO:0018050 tibial aplasia-ectrodactyly syndrome MONDO:0800090 Orphanet:3329 Orphanet:498477 obsolete ectrodactyly with and without other manifestations +MONDO:0018050 tibial aplasia-ectrodactyly syndrome MONDO:8000032 Orphanet:3329 Orphanet:377789 obsolete malformation syndrome +MONDO:0018051 Jessner lymphocytic infiltration of the skin MONDO:0019546 Orphanet:33314 Orphanet:90077 obsolete other acquired skin disease +MONDO:0018053 trichothiodystrophy MONDO:0017271 Orphanet:33364 Orphanet:281222 obsolete autosomal ichthyosis syndrome with prominent hair abnormalities +MONDO:0018053 trichothiodystrophy MONDO:0018390 Orphanet:33364 Orphanet:399771 obsolete male infertility due to sperm disorder +MONDO:0018053 trichothiodystrophy MONDO:0019282 Orphanet:33364 Orphanet:79367 obsolete syndromic hair shaft abnormality +MONDO:0018053 trichothiodystrophy MONDO:0020225 Orphanet:33364 Orphanet:98641 obsolete syndromic cataract +MONDO:0018053 trichothiodystrophy MONDO:0035862 Orphanet:33364 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome +MONDO:0018054 familial atrial fibrillation MONDO:0015110 Orphanet:334 Orphanet:101934 obsolete genetic cardiac rhythm disease +MONDO:0018056 bullous lichen planus MONDO:0016767 Orphanet:33408 Orphanet:254370 obsolete cutaneous lichen planus +MONDO:0018058 tracheal agenesis MONDO:0015221 Orphanet:3346 Orphanet:108993 obsolete non-syndromic respiratory or mediastinal malformation +MONDO:0018058 tracheal agenesis MONDO:0015505 Orphanet:3346 Orphanet:156252 obsolete tracheal anomaly +MONDO:0018058 tracheal agenesis MONDO:0015930 Orphanet:3346 Orphanet:182111 obsolete respiratory malformation +MONDO:0018058 tracheal agenesis MONDO:8000030 Orphanet:3346 Orphanet:377791 obsolete morphological anomaly +MONDO:0018059 meningococcal meningitis MONDO:0015659 Orphanet:33475 Orphanet:166490 obsolete infectious disease with epilepsy +MONDO:0018060 congenital fibrinogen deficiency MONDO:0019039 Orphanet:335 Orphanet:68334 obsolete rare hemorrhagic disorder due to a constitutional coagulation factors defect +MONDO:0018061 trichodermodysplasia-dental alterations syndrome MONDO:0015336 Orphanet:3353 Orphanet:139042 obsolete malformation syndrome with odontal and/or periodontal component +MONDO:0018061 trichodermodysplasia-dental alterations syndrome MONDO:0026190 Orphanet:3353 Orphanet:183580 obsolete genetic malformation syndrome with odontal and/or periodontal component +MONDO:0018061 trichodermodysplasia-dental alterations syndrome MONDO:8000032 Orphanet:3353 Orphanet:377789 obsolete malformation syndrome +MONDO:0018064 trigonocephaly-broad thumbs syndrome MONDO:8000032 Orphanet:3365 Orphanet:377789 obsolete malformation syndrome +MONDO:0018065 isolated trigonocephaly MONDO:0020254 Orphanet:3366 Orphanet:98684 obsolete craniostenosis associated with a strabismus +MONDO:0018065 isolated trigonocephaly MONDO:8000030 Orphanet:3366 Orphanet:377791 obsolete morphological anomaly +MONDO:0018066 trisomy X MONDO:0017002 Orphanet:3375 Orphanet:263723 obsolete polysomy of X chromosome +MONDO:0018066 trisomy X MONDO:0018401 Orphanet:3375 Orphanet:399853 obsolete female infertility due to an anomaly of ovarian function +MONDO:0018066 trisomy X MONDO:0018413 Orphanet:3375 Orphanet:400022 obsolete female infertility due to an anomaly of ovarian function of genetic origin +MONDO:0018066 trisomy X MONDO:0034443 Orphanet:3375 Orphanet:485382 obsolete genetic non-acquired premature ovarian failure +MONDO:0018066 trisomy X MONDO:8000032 Orphanet:3375 Orphanet:377789 obsolete malformation syndrome +MONDO:0018067 triploidy MONDO:0018731 Orphanet:3376 Orphanet:459787 obsolete lethal multiple congenital anomalies/dysmorphic syndrome +MONDO:0018067 triploidy MONDO:0020226 Orphanet:3376 Orphanet:98642 obsolete chromosomal anomaly with cataract +MONDO:0018067 triploidy MONDO:8000032 Orphanet:3376 Orphanet:377789 obsolete malformation syndrome +MONDO:0018068 trisomy 13 MONDO:0015216 Orphanet:3378 Orphanet:108979 obsolete syndromic diaphragmatic or abdominal wall malformation +MONDO:0018068 trisomy 13 MONDO:0015246 Orphanet:3378 Orphanet:117573 obsolete syndromic anorectal malformation +MONDO:0018068 trisomy 13 MONDO:0019721 Orphanet:3378 Orphanet:93547 obsolete syndromic renal or urinary tract malformation +MONDO:0018068 trisomy 13 MONDO:0020051 Orphanet:3378 Orphanet:98131 obsolete total autosomal trisomy +MONDO:0018068 trisomy 13 MONDO:0020226 Orphanet:3378 Orphanet:98642 obsolete chromosomal anomaly with cataract +MONDO:0018068 trisomy 13 MONDO:0034954 Orphanet:3378 Orphanet:519327 obsolete syndromic vitreoretinopathy +MONDO:0018068 trisomy 13 MONDO:8000032 Orphanet:3378 Orphanet:377789 obsolete malformation syndrome +MONDO:0018069 distal trisomy 17q MONDO:8000032 Orphanet:3379 Orphanet:377789 obsolete malformation syndrome +MONDO:0018071 trisomy 18 MONDO:0015216 Orphanet:3380 Orphanet:108979 obsolete syndromic diaphragmatic or abdominal wall malformation +MONDO:0018071 trisomy 18 MONDO:0015246 Orphanet:3380 Orphanet:117573 obsolete syndromic anorectal malformation +MONDO:0018071 trisomy 18 MONDO:0019721 Orphanet:3380 Orphanet:93547 obsolete syndromic renal or urinary tract malformation +MONDO:0018071 trisomy 18 MONDO:0020051 Orphanet:3380 Orphanet:98131 obsolete total autosomal trisomy +MONDO:0018071 trisomy 18 MONDO:0020226 Orphanet:3380 Orphanet:98642 obsolete chromosomal anomaly with cataract +MONDO:0018071 trisomy 18 MONDO:8000032 Orphanet:3380 Orphanet:377789 obsolete malformation syndrome +MONDO:0018072 persistent truncus arteriosus MONDO:0018797 Orphanet:3384 Orphanet:477805 obsolete genetic cardiac malformation +MONDO:0018072 persistent truncus arteriosus MONDO:8000030 Orphanet:3384 Orphanet:377791 obsolete morphological anomaly +MONDO:0018075 neural tube defect MONDO:0015219 Orphanet:3388 Orphanet:108989 obsolete non-syndromic central nervous system malformation +MONDO:0018076 tuberculosis MONDO:0015575 Orphanet:3389 Orphanet:163582 obsolete rare bacterial infectious disease +MONDO:0018077 tularemia MONDO:0015575 Orphanet:3392 Orphanet:163582 obsolete rare bacterial infectious disease +MONDO:0018078 soft tissue sarcoma MONDO:0019099 Orphanet:3394 Orphanet:71209 obsolete rare soft tissue tumor +MONDO:0018080 obsolete rare germ cell tumor MONDO:0020031 Orphanet:3399 Orphanet:98057 obsolete rare tumor +MONDO:0018082 aorto-ventricular tunnel MONDO:0020293 Orphanet:3400 Orphanet:98725 obsolete ascending aorta anomaly +MONDO:0018082 aorto-ventricular tunnel MONDO:8000030 Orphanet:3400 Orphanet:377791 obsolete morphological anomaly +MONDO:0018084 Uhl anomaly MONDO:0016343 Orphanet:3403 Orphanet:217678 obsolete unclassified cardiomyopathy +MONDO:0018084 Uhl anomaly MONDO:8000030 Orphanet:3403 Orphanet:377791 obsolete morphological anomaly +MONDO:0018085 umbilical cord ulceration-intestinal atresia syndrome MONDO:0015212 Orphanet:3405 Orphanet:108969 obsolete syndromic intestinal malformation +MONDO:0018085 umbilical cord ulceration-intestinal atresia syndrome MONDO:8000032 Orphanet:3405 Orphanet:377789 obsolete malformation syndrome +MONDO:0018087 viral hemorrhagic fever MONDO:0015576 Orphanet:341 Orphanet:163585 obsolete rare viral disease +MONDO:0018088 familial Mediterranean fever MONDO:0017369 Orphanet:342 Orphanet:290839 obsolete autoinflammatory syndrome with immune deficiency +MONDO:0018089 double outlet right ventricle MONDO:0017131 Orphanet:3426 Orphanet:271853 obsolete hereditary cardiac anomaly +MONDO:0018089 double outlet right ventricle MONDO:8000030 Orphanet:3426 Orphanet:377791 obsolete morphological anomaly +MONDO:0018090 double outlet left ventricle MONDO:8000030 Orphanet:3427 Orphanet:377791 obsolete morphological anomaly +MONDO:0018091 microcephaly-brachydactyly-kyphoscoliosis syndrome MONDO:0020225 Orphanet:3433 Orphanet:98641 obsolete syndromic cataract +MONDO:0018091 microcephaly-brachydactyly-kyphoscoliosis syndrome MONDO:0035863 Orphanet:3433 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0018091 microcephaly-brachydactyly-kyphoscoliosis syndrome MONDO:0800094 Orphanet:3433 Orphanet:498454 obsolete dysostosis with brachydactyly with extraskeletal manifestations +MONDO:0018091 microcephaly-brachydactyly-kyphoscoliosis syndrome MONDO:8000032 Orphanet:3433 Orphanet:377789 obsolete malformation syndrome +MONDO:0018092 Vogt-Koyanagi-Harada disease MONDO:0015916 Orphanet:3437 Orphanet:182064 obsolete rare neuroinflammatory or neuroimmunological disease +MONDO:0018092 Vogt-Koyanagi-Harada disease MONDO:0020225 Orphanet:3437 Orphanet:98641 obsolete syndromic cataract +MONDO:0018093 arbovirus fever MONDO:0015576 Orphanet:344 Orphanet:163585 obsolete rare viral disease +MONDO:0018094 Waardenburg syndrome MONDO:0015331 Orphanet:3440 Orphanet:139027 obsolete malformation syndrome with skin/mucosae involvement +MONDO:0018094 Waardenburg syndrome MONDO:0019589 Orphanet:3440 Orphanet:90642 obsolete syndromic genetic hearing loss +MONDO:0018094 Waardenburg syndrome MONDO:0043008 Orphanet:3440 Orphanet:330206 obsolete genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability +MONDO:0018095 Weaver-Williams syndrome MONDO:0015335 Orphanet:3448 Orphanet:139039 obsolete Mendelian syndromes with cleft lip/palate +MONDO:0018095 Weaver-Williams syndrome MONDO:0035863 Orphanet:3448 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0018095 Weaver-Williams syndrome MONDO:8000032 Orphanet:3448 Orphanet:377789 obsolete malformation syndrome +MONDO:0018096 Weill-Marchesani syndrome MONDO:0020222 Orphanet:3449 Orphanet:98638 obsolete rare disease with glaucoma as a major feature +MONDO:0018096 Weill-Marchesani syndrome MONDO:0034937 Orphanet:3449 Orphanet:519292 obsolete syndromic ectopia lentis +MONDO:0018096 Weill-Marchesani syndrome MONDO:0043008 Orphanet:3449 Orphanet:330206 obsolete genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability +MONDO:0018096 Weill-Marchesani syndrome MONDO:8000032 Orphanet:3449 Orphanet:377789 obsolete malformation syndrome +MONDO:0018097 West syndrome MONDO:0015921 Orphanet:3451 Orphanet:182079 obsolete ARX-related epileptic encephalopathy +MONDO:0018097 West syndrome MONDO:0032013 Orphanet:3451 Orphanet:377792 obsolete clinical syndrome +MONDO:0018097 West syndrome MONDO:0035862 Orphanet:3451 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome +MONDO:0018105 Wolfram syndrome MONDO:0015886 Orphanet:3463 Orphanet:181371 obsolete rare diabetes mellitus type 1 +MONDO:0018105 Wolfram syndrome MONDO:0018609 Orphanet:3463 Orphanet:441434 obsolete syndromic hereditary optic neuropathy +MONDO:0018105 Wolfram syndrome MONDO:0019589 Orphanet:3463 Orphanet:90642 obsolete syndromic genetic hearing loss +MONDO:0018106 hereditary xanthinuria MONDO:0019743 Orphanet:3467 Orphanet:93593 obsolete nephropathy secondary to a storage or other metabolic disease +MONDO:0018108 idiopathic disseminated cytomegalovirus infection MONDO:0015576 Orphanet:35062 Orphanet:163585 obsolete rare viral disease +MONDO:0018109 fulminant viral hepatitis MONDO:0015114 Orphanet:35063 Orphanet:101939 obsolete rare parenchymal liver disease +MONDO:0018112 obsolete isolated scaphocephaly MONDO:0020254 Orphanet:35093 Orphanet:98684 obsolete craniostenosis associated with a strabismus +MONDO:0018112 obsolete isolated scaphocephaly MONDO:0850072 Orphanet:35093 Orphanet:620096 non-syndromic unisutural craniosynostosis +MONDO:0018112 obsolete isolated scaphocephaly MONDO:8000030 Orphanet:35093 Orphanet:377791 obsolete morphological anomaly +MONDO:0018114 obsolete isolated brachycephaly MONDO:0020254 Orphanet:35099 Orphanet:98684 obsolete craniostenosis associated with a strabismus +MONDO:0018114 obsolete isolated brachycephaly MONDO:0035862 Orphanet:35099 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome +MONDO:0018114 obsolete isolated brachycephaly MONDO:0850077 Orphanet:35099 Orphanet:620152 non-syndromic multisutural craniosynostosis +MONDO:0018114 obsolete isolated brachycephaly MONDO:8000030 Orphanet:35099 Orphanet:377791 obsolete morphological anomaly +MONDO:0018115 epidermal nevus syndrome MONDO:0017414 Orphanet:35125 Orphanet:294057 obsolete rare nevus +MONDO:0018115 epidermal nevus syndrome MONDO:0020225 Orphanet:35125 Orphanet:98641 obsolete syndromic cataract +MONDO:0018116 galactosemia MONDO:0019743 Orphanet:352 Orphanet:93593 obsolete nephropathy secondary to a storage or other metabolic disease +MONDO:0018116 galactosemia MONDO:0020228 Orphanet:352 Orphanet:98644 obsolete cataract associated with a metabolic disease +MONDO:0018118 obsolete disorder of phospholipids, sphingolipids and fatty acids biosynthesis with central nervous system predominant involvement MONDO:0018117 Orphanet:352306 Orphanet:352301 disorder of phospholipids, sphingolipids and fatty acids biosynthesis +MONDO:0018119 obsolete disorder of phospholipids, sphingolipids and fatty acids biosynthesis with peripheral nerves predominant involvement MONDO:0018117 Orphanet:352309 Orphanet:352301 disorder of phospholipids, sphingolipids and fatty acids biosynthesis +MONDO:0018120 obsolete disorder of phospholipids, sphingolipids and fatty acids biosynthesis with skeletal muscle predominant involvement MONDO:0018117 Orphanet:352312 Orphanet:352301 disorder of phospholipids, sphingolipids and fatty acids biosynthesis +MONDO:0018121 mitochondrial DNA maintenance syndrome MONDO:0016578 Orphanet:352456 Orphanet:2443 obsolete mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies +MONDO:0018123 intellectual disability-obesity-brain malformations-facial dysmorphism syndrome MONDO:0016565 Orphanet:352530 Orphanet:240371 obsolete syndromic genetic obesity +MONDO:0018123 intellectual disability-obesity-brain malformations-facial dysmorphism syndrome MONDO:0035863 Orphanet:352530 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0018124 Oncogenic osteomalacia MONDO:0019061 Orphanet:352540 Orphanet:68415 obsolete rare parathyroid disease and phosphocalcic metabolism anomaly +MONDO:0018124 Oncogenic osteomalacia MONDO:0019684 Orphanet:352540 Orphanet:93419 obsolete rare bone disease +MONDO:0018124 Oncogenic osteomalacia MONDO:0019744 Orphanet:352540 Orphanet:93603 obsolete rare renal tubular disease +MONDO:0018124 Oncogenic osteomalacia MONDO:0022409 Orphanet:352540 Orphanet:156162 obsolete nephropathy-associated ciliopathy +MONDO:0018125 focal epilepsy-intellectual disability-cerebro-cerebellar malformation MONDO:0015655 Orphanet:352587 Orphanet:166478 obsolete cerebral malformation with epilepsy +MONDO:0018125 focal epilepsy-intellectual disability-cerebro-cerebellar malformation MONDO:0035863 Orphanet:352587 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0018127 16q24.1 microdeletion syndrome MONDO:0017017 Orphanet:352629 Orphanet:264683 obsolete primary interstitial lung disease specific to childhood due to alveolar vascular disorder +MONDO:0018127 16q24.1 microdeletion syndrome MONDO:0028569 Orphanet:352629 Orphanet:264992 obsolete genetic interstitial lung disease +MONDO:0018130 brain dopamine-serotonin vesicular transport disease MONDO:0018329 Orphanet:352649 Orphanet:391711 obsolete persistent combined dystonia +MONDO:0018130 brain dopamine-serotonin vesicular transport disease MONDO:0035862 Orphanet:352649 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome +MONDO:0018131 neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-hip dysplasia syndrome due to 9q21 microdeletion MONDO:8000031 Orphanet:352665 Orphanet:557494 obsolete subtype of a disorder +MONDO:0018132 obsolete congenital muscular alpha-dystroglycanopathy with brain and eye anomalies MONDO:0018276 Orphanet:352687 Orphanet:370953 muscular dystrophy-dystroglycanopathy +MONDO:0018132 obsolete congenital muscular alpha-dystroglycanopathy with brain and eye anomalies MONDO:0018869 Orphanet:352687 Orphanet:51577 cobblestone lissencephaly +MONDO:0018133 attenuated Chédiak-Higashi syndrome MONDO:0015918 Orphanet:352723 Orphanet:182070 obsolete rare neurodegenerative disease +MONDO:0018133 attenuated Chédiak-Higashi syndrome MONDO:0016132 Orphanet:352723 Orphanet:207015 obsolete rare hereditary disease with peripheral neuropathy +MONDO:0018136 minimal pigment oculocutaneous albinism type 1 MONDO:8000031 Orphanet:352734 Orphanet:557494 obsolete subtype of a disorder +MONDO:0018137 temperature-sensitive oculocutaneous albinism type 1 MONDO:8000031 Orphanet:352737 Orphanet:557494 obsolete subtype of a disorder +MONDO:0018141 pyruvate carboxylase deficiency, infantile form MONDO:8000031 Orphanet:353308 Orphanet:557494 obsolete subtype of a disorder +MONDO:0018142 pyruvate carboxylase deficiency, severe neonatal type MONDO:8000031 Orphanet:353314 Orphanet:557494 obsolete subtype of a disorder +MONDO:0018143 pyruvate carboxylase deficiency, benign type MONDO:8000031 Orphanet:353320 Orphanet:557494 obsolete subtype of a disorder +MONDO:0018144 obsolete congenital myasthenic syndromes with glycosylation defect MONDO:0017740 Orphanet:353327 Orphanet:309347 disorder of protein N-glycosylation +MONDO:0018144 obsolete congenital myasthenic syndromes with glycosylation defect MONDO:0018284 Orphanet:353327 Orphanet:371047 obsolete congenital disorder of glycosylation with neurological involvement +MONDO:0018144 obsolete congenital myasthenic syndromes with glycosylation defect MONDO:0018940 Orphanet:353327 Orphanet:590 congenital myasthenic syndrome +MONDO:0018144 obsolete congenital myasthenic syndromes with glycosylation defect MONDO:8000031 Orphanet:353327 Orphanet:557494 obsolete subtype of a disorder +MONDO:0018145 congenital retinal arteriovenous communication MONDO:0015145 Orphanet:353334 Orphanet:102006 obsolete neurovascular malformation +MONDO:0018145 congenital retinal arteriovenous communication MONDO:8000030 Orphanet:353334 Orphanet:377791 obsolete morphological anomaly +MONDO:0018146 idiopathic macular telangiectasia type 1 MONDO:0018833 Orphanet:353344 Orphanet:482092 obsolete rare idiopathic macular telangiectasia +MONDO:0018147 idiopathic macular telangiectasia type 3 MONDO:0018833 Orphanet:353351 Orphanet:482092 obsolete rare idiopathic macular telangiectasia +MONDO:0018148 vasoproliferative tumor of retina MONDO:0015121 Orphanet:353356 Orphanet:101950 obsolete rare eye tumor +MONDO:0018148 vasoproliferative tumor of retina MONDO:0019110 Orphanet:353356 Orphanet:71281 obsolete rare central nervous system or retinal vascular disease +MONDO:0018149 GM1 gangliosidosis MONDO:0019058 Orphanet:354 Orphanet:68385 obsolete neurometabolic disease +MONDO:0018149 GM1 gangliosidosis MONDO:0035862 Orphanet:354 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome +MONDO:0018151 coenzyme Q10 deficiency MONDO:0016402 Orphanet:35656 Orphanet:225700 obsolete mitochondrial disease with epilepsy +MONDO:0018151 coenzyme Q10 deficiency MONDO:0016403 Orphanet:35656 Orphanet:225703 obsolete mitochondrial disease with peripheral neuropathy +MONDO:0018151 coenzyme Q10 deficiency MONDO:0016578 Orphanet:35656 Orphanet:2443 obsolete mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies +MONDO:0018151 coenzyme Q10 deficiency MONDO:0019058 Orphanet:35656 Orphanet:68385 obsolete neurometabolic disease +MONDO:0018152 serpiginous choroiditis MONDO:0019541 Orphanet:35686 Orphanet:90061 obsolete non-infectious posterior uveitis +MONDO:0018153 Erdheim-Chester disease MONDO:0017955 Orphanet:35687 Orphanet:324930 obsolete granulomatous autoinflammatory syndrome +MONDO:0018155 lateral sclerosis MONDO:0015918 Orphanet:35689 Orphanet:182070 obsolete rare neurodegenerative disease +MONDO:0018156 3q26q27 microdeletion syndrome MONDO:8000032 Orphanet:356947 Orphanet:377789 obsolete malformation syndrome +MONDO:0018157 obsolete mitochondrial disorder due to a defect in mitochondrial protein synthesis MONDO:0016578 Orphanet:35696 Orphanet:2443 obsolete mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies +MONDO:0018158 mitochondrial DNA depletion syndrome MONDO:0015188 Orphanet:35698 Orphanet:104013 obsolete metabolic disorder with intestinal involvement +MONDO:0018160 hereditary retinoblastoma MONDO:0015966 Orphanet:357027 Orphanet:183619 obsolete hereditary eye tumor +MONDO:0018160 hereditary retinoblastoma MONDO:8000031 Orphanet:357027 Orphanet:557494 obsolete subtype of a disorder +MONDO:0018161 non-hereditary retinoblastoma MONDO:8000031 Orphanet:357034 Orphanet:557494 obsolete subtype of a disorder +MONDO:0018162 neurometabolic disorder due to serine deficiency MONDO:0019058 Orphanet:35705 Orphanet:68385 obsolete neurometabolic disease +MONDO:0018163 autosomal recessive cutis laxa type 2A MONDO:0018287 Orphanet:357058 Orphanet:371071 obsolete congenital disorder of glycosylation with epilepsy as a major feature +MONDO:0018163 autosomal recessive cutis laxa type 2A MONDO:0018292 Orphanet:357058 Orphanet:371195 obsolete congenital disorder of glycosylation-related bone disorder +MONDO:0018163 autosomal recessive cutis laxa type 2A MONDO:0018293 Orphanet:357058 Orphanet:371200 obsolete congenital disorder of glycosylation with skin involvement +MONDO:0018163 autosomal recessive cutis laxa type 2A MONDO:0035862 Orphanet:357058 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome +MONDO:0018164 arterial thoracic outlet syndrome MONDO:8000031 Orphanet:357107 Orphanet:557494 obsolete subtype of a disorder +MONDO:0018165 venous thoracic outlet syndrome MONDO:8000031 Orphanet:357131 Orphanet:557494 obsolete subtype of a disorder +MONDO:0018166 oral submucous fibrosis MONDO:0019038 Orphanet:357154 Orphanet:68329 obsolete rare maxillo-facial surgical disease +MONDO:0018168 primary non-essential cutis verticis gyrata MONDO:0018798 Orphanet:357225 Orphanet:477808 obsolete other genetic dermis disorder +MONDO:0018168 primary non-essential cutis verticis gyrata MONDO:0035862 Orphanet:357225 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome +MONDO:0018169 morning glory syndrome MONDO:0020253 Orphanet:35737 Orphanet:98683 obsolete syndrome with a symptomatic strabismus +MONDO:0018169 morning glory syndrome MONDO:8000030 Orphanet:35737 Orphanet:377791 obsolete morphological anomaly +MONDO:0018170 idiopathic nephrotic syndrome MONDO:0035466 Orphanet:357502 Orphanet:567564 obsolete nephrotic syndrome without extrarenal manifestations +MONDO:0018173 acute opioid poisoning MONDO:0035328 Orphanet:35889 Orphanet:556508 obsolete rare disorder due to poisoning +MONDO:0018175 combined deficiency of factor V and factor VIII MONDO:0019039 Orphanet:35909 Orphanet:68334 obsolete rare hemorrhagic disorder due to a constitutional coagulation factors defect +MONDO:0018178 intestinal lymphangiectasia MONDO:0015245 Orphanet:36204 Orphanet:117569 obsolete rare intestinal disease +MONDO:0018182 bullous impetigo MONDO:0019546 Orphanet:36237 Orphanet:90077 obsolete other acquired skin disease +MONDO:0018183 staphylococcal necrotizing pneumonia MONDO:0015118 Orphanet:36238 Orphanet:101944 obsolete rare pulmonary disease +MONDO:0018184 gastric linitis plastica MONDO:0018501 Orphanet:36273 Orphanet:423771 obsolete rare carcinoma of stomach +MONDO:0018185 obsolete congenital anomaly of the great veins MONDO:0018723 Orphanet:363189 Orphanet:458844 obsolete rare vascular malformation of major vessels +MONDO:0018185 obsolete congenital anomaly of the great veins MONDO:0019512 Orphanet:363189 Orphanet:88991 congenital heart malformation +MONDO:0018186 obsolete ring chromosome MONDO:0020049 Orphanet:363203 Orphanet:98127 autosomal anomaly +MONDO:0018187 obsolete hereditary syndromic Pierre Robin syndrome MONDO:0015501 Orphanet:363294 Orphanet:156237 obsolete syndrome or malformation associated with head and neck malformations +MONDO:0018188 obsolete hereditary intestinal polyposis MONDO:0015616 Orphanet:363314 Orphanet:165655 obsolete rare genetic intestinal disease +MONDO:0018190 autosomal dominant childhood-onset proximal spinal muscular atrophy MONDO:0016224 Orphanet:363447 Orphanet:211037 obsolete autosomal dominant proximal spinal muscular atrophy +MONDO:0018191 obsolete tumor of testis and paratestis MONDO:0015931 Orphanet:363472 Orphanet:182114 obsolete rare urogenital tumor +MONDO:0018192 paratesticular adenocarcinoma MONDO:0018191 Orphanet:363478 Orphanet:363472 obsolete tumor of testis and paratestis +MONDO:0018193 testicular teratoma MONDO:0018191 Orphanet:363483 Orphanet:363472 obsolete tumor of testis and paratestis +MONDO:0018197 mitochondrial DNA depletion syndrome, hepatocerebrorenal form MONDO:0019058 Orphanet:363534 Orphanet:68385 obsolete neurometabolic disease +MONDO:0018197 mitochondrial DNA depletion syndrome, hepatocerebrorenal form MONDO:0019744 Orphanet:363534 Orphanet:93603 obsolete rare renal tubular disease +MONDO:0018198 acute encephalopathy with biphasic seizures and late reduced diffusion MONDO:0018200 Orphanet:363549 Orphanet:363567 obsolete acute encephalopathy with inflammation-mediated status epilepticus +MONDO:0018199 new-onset refractory status epilepticus MONDO:0018200 Orphanet:363558 Orphanet:363567 obsolete acute encephalopathy with inflammation-mediated status epilepticus +MONDO:0018200 obsolete acute encephalopathy with inflammation-mediated status epilepticus MONDO:0015657 Orphanet:363567 Orphanet:166484 obsolete inflammatory and autoimmune disease with epilepsy +MONDO:0018200 obsolete acute encephalopathy with inflammation-mediated status epilepticus MONDO:0020072 Orphanet:363567 Orphanet:98259 childhood-onset epilepsy syndrome +MONDO:0018201 extragonadal germ cell tumor MONDO:0018080 Orphanet:363579 Orphanet:3399 obsolete rare germ cell tumor +MONDO:0018202 gonadal germ cell tumor MONDO:0018080 Orphanet:363582 Orphanet:3399 obsolete rare germ cell tumor +MONDO:0018203 LMNA-related cardiocutaneous progeria syndrome MONDO:0019996 Orphanet:363618 Orphanet:97929 obsolete rare cardiac disease +MONDO:0018203 LMNA-related cardiocutaneous progeria syndrome MONDO:0020029 Orphanet:363618 Orphanet:98054 obsolete rare genetic cardiac disease +MONDO:0018203 LMNA-related cardiocutaneous progeria syndrome MONDO:0029813 Orphanet:363618 Orphanet:300766 obsolete laminopathy with premature aging +MONDO:0018204 20q11.2 microduplication syndrome MONDO:0035863 Orphanet:363659 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0018204 20q11.2 microduplication syndrome MONDO:8000032 Orphanet:363659 Orphanet:377789 obsolete malformation syndrome +MONDO:0018205 distal monosomy 1q MONDO:0035863 Orphanet:36367 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0018205 distal monosomy 1q MONDO:8000032 Orphanet:36367 Orphanet:377789 obsolete malformation syndrome +MONDO:0018207 2p13.2 microdeletion syndrome MONDO:0035863 Orphanet:363680 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0018207 2p13.2 microdeletion syndrome MONDO:8000032 Orphanet:363680 Orphanet:377789 obsolete malformation syndrome +MONDO:0018208 neurofibromatosis type 1 due to NF1 mutation or intragenic deletion MONDO:8000031 Orphanet:363700 Orphanet:557494 obsolete subtype of a disorder +MONDO:0018209 Alexander disease type I MONDO:8000031 Orphanet:363717 Orphanet:557494 obsolete subtype of a disorder +MONDO:0018210 Alexander disease type II MONDO:0034962 Orphanet:363722 Orphanet:519343 obsolete rare ophthalmic disorder with cortical involvement +MONDO:0018210 Alexander disease type II MONDO:8000031 Orphanet:363722 Orphanet:557494 obsolete subtype of a disorder +MONDO:0018211 Balint syndrome MONDO:0020009 Orphanet:363746 Orphanet:98006 obsolete rare neurologic disease +MONDO:0018212 familial cervical artery dissection MONDO:0015953 Orphanet:36382 Orphanet:183503 obsolete genetic central nervous system and retinal vascular disease +MONDO:0018212 familial cervical artery dissection MONDO:0019110 Orphanet:36382 Orphanet:71281 obsolete rare central nervous system or retinal vascular disease +MONDO:0018213 hereditary sensory and autonomic neuropathy type 1 MONDO:0015365 Orphanet:36386 Orphanet:140474 obsolete autosomal dominant hereditary sensory and autonomic neuropathy +MONDO:0018213 hereditary sensory and autonomic neuropathy type 1 MONDO:0018119 Orphanet:36386 Orphanet:352309 obsolete disorder of phospholipids, sphingolipids and fatty acids biosynthesis with peripheral nerves predominant involvement +MONDO:0018214 generalized epilepsy with febrile seizures plus MONDO:0035862 Orphanet:36387 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome +MONDO:0018215 paraneoplastic neurologic syndrome MONDO:0020009 Orphanet:36388 Orphanet:98006 obsolete rare neurologic disease +MONDO:0018216 Koolen-de Vries syndrome due to 17q21.31 microdeletion syndrome MONDO:8000031 Orphanet:363958 Orphanet:557494 obsolete subtype of a disorder +MONDO:0018217 Koolen-de Vries syndrome due to a point mutation MONDO:8000031 Orphanet:363965 Orphanet:557494 obsolete subtype of a disorder +MONDO:0018218 autosomal recessive cerebral atrophy MONDO:0015918 Orphanet:363969 Orphanet:182070 obsolete rare neurodegenerative disease +MONDO:0018221 immune hydrops fetalis MONDO:8000031 Orphanet:364013 Orphanet:557494 obsolete subtype of a disorder MONDO:0018222 obsolete X-linked intellectual disability due to GRIA3 anomalies MONDO:0000001 Orphanet:364028 Orphanet:377788 disease +MONDO:0018222 obsolete X-linked intellectual disability due to GRIA3 anomalies MONDO:0015159 Orphanet:364028 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0018222 obsolete X-linked intellectual disability due to GRIA3 anomalies MONDO:0035863 Orphanet:364028 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0018226 infantile epileptic-dyskinetic encephalopathy MONDO:0015921 Orphanet:364063 Orphanet:182079 obsolete ARX-related epileptic encephalopathy +MONDO:0018226 infantile epileptic-dyskinetic encephalopathy MONDO:0018329 Orphanet:364063 Orphanet:391711 obsolete persistent combined dystonia +MONDO:0018228 bipartite talus MONDO:0015227 Orphanet:364198 Orphanet:109011 obsolete non-syndromic limb malformation +MONDO:0018228 bipartite talus MONDO:0018235 Orphanet:364198 Orphanet:364568 obsolete dysostosis with limb anomaly as a major feature +MONDO:0018228 bipartite talus MONDO:0018455 Orphanet:364198 Orphanet:404571 obsolete dysostosis of genetic origin with limb anomaly as a major feature +MONDO:0018228 bipartite talus MONDO:8000030 Orphanet:364198 Orphanet:377791 obsolete morphological anomaly +MONDO:0018229 Stevens-Johnson syndrome MONDO:8000031 Orphanet:36426 Orphanet:557494 obsolete subtype of a disorder +MONDO:0018230 skeletal dysplasia MONDO:0015328 Orphanet:364526 Orphanet:139012 obsolete rare bone development disorder +MONDO:0018230 skeletal dysplasia MONDO:0015958 Orphanet:364526 Orphanet:183524 obsolete rare genetic bone disease +MONDO:0018230 skeletal dysplasia MONDO:0018457 Orphanet:364526 Orphanet:404584 obsolete rare genetic bone development disorder +MONDO:0018230 skeletal dysplasia MONDO:0019684 Orphanet:364526 Orphanet:93419 obsolete rare bone disease +MONDO:0018231 obsolete primary bone dysplasia with progressive ossification of skin, skeletal muscle, fascia, tendons and ligaments MONDO:0018230 Orphanet:364531 Orphanet:364526 skeletal dysplasia +MONDO:0018232 obsolete primary bone dysplasia with micromelia MONDO:0018230 Orphanet:364536 Orphanet:364526 skeletal dysplasia +MONDO:0018234 dysostosis MONDO:0015328 Orphanet:364559 Orphanet:139012 obsolete rare bone development disorder +MONDO:0018234 dysostosis MONDO:0019684 Orphanet:364559 Orphanet:93419 obsolete rare bone disease +MONDO:0018235 obsolete dysostosis with limb anomaly as a major feature MONDO:0018234 Orphanet:364568 Orphanet:364559 dysostosis +MONDO:0018236 obsolete dysostosis with limb and face anomalies as a major feature MONDO:0018235 Orphanet:364571 Orphanet:364568 obsolete dysostosis with limb anomaly as a major feature +MONDO:0018236 obsolete dysostosis with limb and face anomalies as a major feature MONDO:0018455 Orphanet:364571 Orphanet:404571 obsolete dysostosis of genetic origin with limb anomaly as a major feature +MONDO:0018237 acrofacial dysostosis MONDO:0018236 Orphanet:364574 Orphanet:364571 obsolete dysostosis with limb and face anomalies as a major feature +MONDO:0018239 obsolete aggrecan-related bone disorder MONDO:0031799 Orphanet:364817 Orphanet:364803 obsolete rare bone disease related to a common gene or pathway defect +MONDO:0018240 TRPV4-related bone disorder MONDO:0031799 Orphanet:364820 Orphanet:364803 obsolete rare bone disease related to a common gene or pathway defect +MONDO:0018241 obsolete primary short bowel syndrome MONDO:0015183 Orphanet:365563 Orphanet:104008 short bowel syndrome +MONDO:0018241 obsolete primary short bowel syndrome MONDO:0015616 Orphanet:365563 Orphanet:165655 obsolete rare genetic intestinal disease +MONDO:0018242 autoimmune hypoparathyroidism MONDO:0015896 Orphanet:36913 Orphanet:181405 obsolete rare hypoparathyroidism +MONDO:0018243 intellectual disability-hyperkinetic movement-truncal ataxia syndrome MONDO:0015957 Orphanet:369847 Orphanet:183521 obsolete rare genetic movement disorder +MONDO:0018243 intellectual disability-hyperkinetic movement-truncal ataxia syndrome MONDO:0017645 Orphanet:369847 Orphanet:306715 obsolete rare choreic movement disorder +MONDO:0018243 intellectual disability-hyperkinetic movement-truncal ataxia syndrome MONDO:0035862 Orphanet:369847 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome +MONDO:0018244 obesity due to SIM1 deficiency MONDO:0020075 Orphanet:369873 Orphanet:98267 obsolete hereditary non-syndromic obesity +MONDO:0018244 obesity due to SIM1 deficiency MONDO:8000031 Orphanet:369873 Orphanet:557494 obsolete subtype of a disorder +MONDO:0018245 2p21 microdeletion syndrome without cystinuria MONDO:0018246 Orphanet:369881 Orphanet:369886 obsolete homozygous 2p21 microdeletion syndrome +MONDO:0018245 2p21 microdeletion syndrome without cystinuria MONDO:8000032 Orphanet:369881 Orphanet:377789 obsolete malformation syndrome +MONDO:0018246 obsolete homozygous 2p21 microdeletion syndrome MONDO:0016884 Orphanet:369886 Orphanet:261866 partial deletion of the short arm of chromosome 2 +MONDO:0018247 CADDS MONDO:0015115 Orphanet:369942 Orphanet:101940 obsolete rare genetic metabolic liver disease +MONDO:0018247 CADDS MONDO:0019058 Orphanet:369942 Orphanet:68385 obsolete neurometabolic disease +MONDO:0018248 intellectual disability-seizures-macrocephaly-obesity syndrome MONDO:0016565 Orphanet:369950 Orphanet:240371 obsolete syndromic genetic obesity +MONDO:0018248 intellectual disability-seizures-macrocephaly-obesity syndrome MONDO:0016998 Orphanet:369950 Orphanet:263708 obsolete complex chromosomal rearrangement +MONDO:0018248 intellectual disability-seizures-macrocephaly-obesity syndrome MONDO:0035863 Orphanet:369950 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0018249 finger hyperphalangy - toe anomalies - severe pectus excavatum syndrome MONDO:0017434 Orphanet:369979 Orphanet:294959 obsolete syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy +MONDO:0018249 finger hyperphalangy - toe anomalies - severe pectus excavatum syndrome MONDO:8000032 Orphanet:369979 Orphanet:377789 obsolete malformation syndrome +MONDO:0018250 diffuse palmoplantar keratoderma with painful fissures MONDO:0020093 Orphanet:369999 Orphanet:98349 obsolete autosomal dominant isolated diffuse palmoplantar keratoderma +MONDO:0018251 obsolete glycogen storage disease due to phosphorylase kinase deficiency MONDO:0002412 Orphanet:370 Orphanet:79201 disorder of glycogen metabolism +MONDO:0018252 focal palmoplantar keratoderma with joint keratoses MONDO:0017673 Orphanet:370002 Orphanet:307846 obsolete isolated focal palmoplantar keratoderma +MONDO:0018253 intellectual disability-facial dysmorphism-hand anomalies syndrome MONDO:0035863 Orphanet:370010 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0018253 intellectual disability-facial dysmorphism-hand anomalies syndrome MONDO:8000032 Orphanet:370010 Orphanet:377789 obsolete malformation syndrome +MONDO:0018256 acute myeloid leukemia with t(8;16)(p11;p13) translocation MONDO:0020078 Orphanet:370026 Orphanet:98277 obsolete acute myeloid leukemia with recurrent genetic anomaly +MONDO:0018257 familial syringomyelia MONDO:0026173 Orphanet:370034 Orphanet:183515 obsolete rare genetic medullar disease +MONDO:0018257 familial syringomyelia MONDO:8000031 Orphanet:370034 Orphanet:557494 obsolete subtype of a disorder +MONDO:0018258 Angora hair nevus MONDO:0017414 Orphanet:370039 Orphanet:294057 obsolete rare nevus +MONDO:0018259 didymosis aplasticosebacea MONDO:0017414 Orphanet:370046 Orphanet:294057 obsolete rare nevus +MONDO:0018260 scalp syndrome MONDO:0017414 Orphanet:370052 Orphanet:294057 obsolete rare nevus +MONDO:0018261 Nevada syndrome MONDO:0017414 Orphanet:370059 Orphanet:294057 obsolete rare nevus +MONDO:0018262 obsolete fetal anticonvulsant syndrome MONDO:0016677 Orphanet:370068 Orphanet:251529 toxic or drug-related embryofetopathy +MONDO:0018263 fetal carbamazepine syndrome MONDO:0018262 Orphanet:370076 Orphanet:370068 obsolete fetal anticonvulsant syndrome +MONDO:0018263 fetal carbamazepine syndrome MONDO:8000032 Orphanet:370076 Orphanet:377789 obsolete malformation syndrome +MONDO:0018265 obsolete rare disorder with dystonia and other neurologic or systemic manifestation MONDO:0019049 Orphanet:370106 Orphanet:68363 obsolete rare dystonia +MONDO:0018265 obsolete rare disorder with dystonia and other neurologic or systemic manifestation MONDO:0044807 Orphanet:370106 Orphanet:391799 inherited dystonia +MONDO:0018266 ataxia - telangiectasia variant MONDO:0018329 Orphanet:370109 Orphanet:391711 obsolete persistent combined dystonia +MONDO:0018273 XYLT1-congenital disorder of glycosylation MONDO:0017742 Orphanet:370930 Orphanet:309450 obsolete disorder of O-xylosylglycan synthesis +MONDO:0018273 XYLT1-congenital disorder of glycosylation MONDO:0018284 Orphanet:370930 Orphanet:371047 obsolete congenital disorder of glycosylation with neurological involvement +MONDO:0018273 XYLT1-congenital disorder of glycosylation MONDO:0018296 Orphanet:370930 Orphanet:371235 obsolete congenital disorder of glycosylation with developmental anomaly +MONDO:0018273 XYLT1-congenital disorder of glycosylation MONDO:0035863 Orphanet:370930 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0018274 GM3 synthase deficiency MONDO:0018118 Orphanet:370933 Orphanet:352306 obsolete disorder of phospholipids, sphingolipids and fatty acids biosynthesis with central nervous system predominant involvement +MONDO:0018274 GM3 synthase deficiency MONDO:0018287 Orphanet:370933 Orphanet:371071 obsolete congenital disorder of glycosylation with epilepsy as a major feature +MONDO:0018274 GM3 synthase deficiency MONDO:0018293 Orphanet:370933 Orphanet:371200 obsolete congenital disorder of glycosylation with skin involvement +MONDO:0018274 GM3 synthase deficiency MONDO:0035862 Orphanet:370933 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome MONDO:0018277 obsolete congenital muscular dystrophy with cerebellar involvement MONDO:0000001 Orphanet:370959 Orphanet:377788 disease +MONDO:0018277 obsolete congenital muscular dystrophy with cerebellar involvement MONDO:0017745 Orphanet:370959 Orphanet:309469 obsolete disorder of O-mannosylglycan synthesis +MONDO:0018277 obsolete congenital muscular dystrophy with cerebellar involvement MONDO:0018276 Orphanet:370959 Orphanet:370953 muscular dystrophy-dystroglycanopathy +MONDO:0018277 obsolete congenital muscular dystrophy with cerebellar involvement MONDO:0018284 Orphanet:370959 Orphanet:371047 obsolete congenital disorder of glycosylation with neurological involvement +MONDO:0018277 obsolete congenital muscular dystrophy with cerebellar involvement MONDO:0035862 Orphanet:370959 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome +MONDO:0018278 congenital muscular dystrophy with intellectual disability MONDO:0017745 Orphanet:370968 Orphanet:309469 obsolete disorder of O-mannosylglycan synthesis +MONDO:0018278 congenital muscular dystrophy with intellectual disability MONDO:0018284 Orphanet:370968 Orphanet:371047 obsolete congenital disorder of glycosylation with neurological involvement +MONDO:0018278 congenital muscular dystrophy with intellectual disability MONDO:0035862 Orphanet:370968 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome MONDO:0018279 obsolete congenital muscular dystrophy without intellectual disability MONDO:0000001 Orphanet:370980 Orphanet:377788 disease +MONDO:0018279 obsolete congenital muscular dystrophy without intellectual disability MONDO:0017745 Orphanet:370980 Orphanet:309469 obsolete disorder of O-mannosylglycan synthesis +MONDO:0018279 obsolete congenital muscular dystrophy without intellectual disability MONDO:0018276 Orphanet:370980 Orphanet:370953 muscular dystrophy-dystroglycanopathy +MONDO:0018279 obsolete congenital muscular dystrophy without intellectual disability MONDO:0018284 Orphanet:370980 Orphanet:371047 obsolete congenital disorder of glycosylation with neurological involvement +MONDO:0018280 muscle-eye-brain disease with bilateral multicystic leucodystrophy MONDO:0018132 Orphanet:370997 Orphanet:352687 obsolete congenital muscular alpha-dystroglycanopathy with brain and eye anomalies +MONDO:0018280 muscle-eye-brain disease with bilateral multicystic leucodystrophy MONDO:0018283 Orphanet:370997 Orphanet:371040 obsolete primary qualitative or quantitative defects of alpha-dystroglycan +MONDO:0018283 obsolete primary qualitative or quantitative defects of alpha-dystroglycan MONDO:0018282 Orphanet:371040 Orphanet:371024 qualitative or quantitative defects of alpha-dystroglycan +MONDO:0018284 obsolete congenital disorder of glycosylation with neurological involvement MONDO:0019058 Orphanet:371047 Orphanet:68385 obsolete neurometabolic disease +MONDO:0018287 obsolete congenital disorder of glycosylation with epilepsy as a major feature MONDO:0015656 Orphanet:371071 Orphanet:166481 obsolete metabolic disease with epilepsy +MONDO:0018287 obsolete congenital disorder of glycosylation with epilepsy as a major feature MONDO:0018284 Orphanet:371071 Orphanet:371047 obsolete congenital disorder of glycosylation with neurological involvement +MONDO:0018288 obsolete congenital disorder of glycosylation with hepatic involvement MONDO:0015115 Orphanet:371157 Orphanet:101940 obsolete rare genetic metabolic liver disease +MONDO:0018289 obsolete congenital disorder of glycosylation with dilated cardiomyopathy MONDO:0016333 Orphanet:371176 Orphanet:217607 familial dilated cardiomyopathy +MONDO:0018290 obsolete congenital disorder of glycosylation with cardiac malformation as a major feature MONDO:0015506 Orphanet:371183 Orphanet:156532 obsolete rare syndrome with cardiac malformations +MONDO:0018290 obsolete congenital disorder of glycosylation with cardiac malformation as a major feature MONDO:0018296 Orphanet:371183 Orphanet:371235 obsolete congenital disorder of glycosylation with developmental anomaly +MONDO:0018291 obsolete congenital disorder of glycosylation with intestinal involvement MONDO:0015188 Orphanet:371188 Orphanet:104013 obsolete metabolic disorder with intestinal involvement +MONDO:0018292 obsolete congenital disorder of glycosylation-related bone disorder MONDO:0018296 Orphanet:371195 Orphanet:371235 obsolete congenital disorder of glycosylation with developmental anomaly +MONDO:0018292 obsolete congenital disorder of glycosylation-related bone disorder MONDO:0031799 Orphanet:371195 Orphanet:364803 obsolete rare bone disease related to a common gene or pathway defect +MONDO:0018293 obsolete congenital disorder of glycosylation with skin involvement MONDO:0019301 Orphanet:371200 Orphanet:79387 obsolete metabolic disease with skin involvement +MONDO:0018294 obsolete congenital disorder of glycosylation with nephropathy as a major feature MONDO:0019743 Orphanet:371207 Orphanet:93593 obsolete nephropathy secondary to a storage or other metabolic disease +MONDO:0018295 obsolete congenital disorder of glycosylation with deafness as a major feature MONDO:0018296 Orphanet:371212 Orphanet:371235 obsolete congenital disorder of glycosylation with developmental anomaly +MONDO:0018295 obsolete congenital disorder of glycosylation with deafness as a major feature MONDO:0019589 Orphanet:371212 Orphanet:90642 obsolete syndromic genetic hearing loss +MONDO:0018296 obsolete congenital disorder of glycosylation with developmental anomaly MONDO:0015327 Orphanet:371235 Orphanet:139009 developmental anomaly of metabolic origin +MONDO:0018299 obsolete sphingolipidosis with epilepsy MONDO:0016397 Orphanet:371442 Orphanet:225681 obsolete lysosomal disease with epilepsy +MONDO:0018301 interstitial cystitis MONDO:0015106 Orphanet:37202 Orphanet:101433 obsolete rare urogenital disease +MONDO:0018302 acquired kinky hair syndrome MONDO:0019546 Orphanet:37559 Orphanet:90077 obsolete other acquired skin disease +MONDO:0018304 Schnitzler syndrome MONDO:8000032 Orphanet:37748 Orphanet:377789 obsolete malformation syndrome +MONDO:0018305 chronic granulomatous disease MONDO:0015187 Orphanet:379 Orphanet:104012 obsolete rare inflammatory bowel disease +MONDO:0018305 chronic granulomatous disease MONDO:0017023 Orphanet:379 Orphanet:264714 obsolete secondary interstitial lung disease specific to childhood associated with a granulomatous disease +MONDO:0018305 chronic granulomatous disease MONDO:0017259 Orphanet:379 Orphanet:280926 obsolete systemic diseases with anterior uveitis +MONDO:0018305 chronic granulomatous disease MONDO:0017260 Orphanet:379 Orphanet:280930 obsolete systemic diseases with posterior uveitis +MONDO:0018305 chronic granulomatous disease MONDO:0017261 Orphanet:379 Orphanet:280933 obsolete systemic diseases with panuveitis +MONDO:0018305 chronic granulomatous disease MONDO:0019305 Orphanet:379 Orphanet:79391 obsolete immune deficiency with skin involvement +MONDO:0018305 chronic granulomatous disease MONDO:0026166 Orphanet:379 Orphanet:183494 obsolete genetic immune deficiency with skin involvement +MONDO:0018305 chronic granulomatous disease MONDO:0035037 Orphanet:379 Orphanet:522504 obsolete rare genetic disorder of the visual organs +MONDO:0018306 Griscelli syndrome MONDO:0035862 Orphanet:381 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome +MONDO:0018307 neurodegeneration with brain iron accumulation MONDO:0017641 Orphanet:385 Orphanet:306695 obsolete miscellaneous movement disorder due to neurodegenerative disease +MONDO:0018307 neurodegeneration with brain iron accumulation MONDO:0017662 Orphanet:385 Orphanet:307058 obsolete miscellaneous movement disorder due to genetic neurodegenerative disease +MONDO:0018307 neurodegeneration with brain iron accumulation MONDO:0019058 Orphanet:385 Orphanet:68385 obsolete neurometabolic disease +MONDO:0018307 neurodegeneration with brain iron accumulation MONDO:0020136 Orphanet:385 Orphanet:98534 obsolete neurodegenerative disease with dementia +MONDO:0018307 neurodegeneration with brain iron accumulation MONDO:0021037 Orphanet:385 Orphanet:276058 obsolete genetic neurodegenerative disease with dementia +MONDO:0018308 liver mesenchymal hamartoma MONDO:0017632 Orphanet:386 Orphanet:306636 obsolete rare tumor of liver and intrahepatic biliary tract +MONDO:0018309 Hirschsprung disease MONDO:0015184 Orphanet:388 Orphanet:104009 obsolete rare disease involving intestinal motility +MONDO:0018310 Langerhans cell histiocytosis MONDO:0015118 Orphanet:389 Orphanet:101944 obsolete rare pulmonary disease +MONDO:0018312 histoplasmosis MONDO:0015578 Orphanet:390 Orphanet:163591 obsolete rare mycosis +MONDO:0018315 X-linked osteoporosis with fractures MONDO:0019704 Orphanet:391330 Orphanet:93446 obsolete primary bone dysplasia with decreased bone density +MONDO:0018316 fatal post-viral neurodegenerative disorder MONDO:0015144 Orphanet:391343 Orphanet:102005 obsolete brain inflammatory disease +MONDO:0018316 fatal post-viral neurodegenerative disorder MONDO:0015918 Orphanet:391343 Orphanet:182070 obsolete rare neurodegenerative disease +MONDO:0018317 growth retardation-mild developmental delay-chronic hepatitis syndrome MONDO:0015114 Orphanet:391366 Orphanet:101939 obsolete rare parenchymal liver disease +MONDO:0018317 growth retardation-mild developmental delay-chronic hepatitis syndrome MONDO:0015508 Orphanet:391366 Orphanet:156604 obsolete hereditary parenchymatous liver disease +MONDO:0018318 obsolete disorder of asparagine metabolism MONDO:0019189 Orphanet:391381 Orphanet:79062 inborn disorder of amino acid and other organic acid metabolism +MONDO:0018320 primary microcephaly-mild intellectual disability-young-onset diabetes syndrome MONDO:0015887 Orphanet:391408 Orphanet:181376 obsolete rare diabetes mellitus type 2 +MONDO:0018320 primary microcephaly-mild intellectual disability-young-onset diabetes syndrome MONDO:0017119 Orphanet:391408 Orphanet:269528 obsolete syndrome with microcephaly as major feature +MONDO:0018320 primary microcephaly-mild intellectual disability-young-onset diabetes syndrome MONDO:0035863 Orphanet:391408 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0018321 atypical juvenile parkinsonism MONDO:0017635 Orphanet:391411 Orphanet:306666 obsolete parkinsonian syndrome due to neurodegenerative disease +MONDO:0018321 atypical juvenile parkinsonism MONDO:0017661 Orphanet:391411 Orphanet:307055 obsolete rare parkinsonian syndrome due to genetic neurodegenerative disease +MONDO:0018322 HSD10 disease, infantile type MONDO:8000031 Orphanet:391428 Orphanet:557494 obsolete subtype of a disorder +MONDO:0018323 HSD10 disease, neonatal type MONDO:8000031 Orphanet:391457 Orphanet:557494 obsolete subtype of a disorder +MONDO:0018324 adult-onset myasthenia gravis MONDO:8000031 Orphanet:391490 Orphanet:557494 obsolete subtype of a disorder +MONDO:0018325 juvenile myasthenia gravis MONDO:8000031 Orphanet:391497 Orphanet:557494 obsolete subtype of a disorder +MONDO:0018326 transient neonatal myasthenia gravis MONDO:8000031 Orphanet:391504 Orphanet:557494 obsolete subtype of a disorder +MONDO:0018327 glomus tumor MONDO:0019099 Orphanet:391651 Orphanet:71209 obsolete rare soft tissue tumor +MONDO:0018328 homozygous familial hypercholesterolemia MONDO:0018799 Orphanet:391665 Orphanet:477811 obsolete rare hypercholesterolemia +MONDO:0018329 obsolete persistent combined dystonia MONDO:0020065 Orphanet:391711 Orphanet:98203 combined dystonia +MONDO:0018332 multiple acyl-CoA dehydrogenase deficiency, severe neonatal type MONDO:8000031 Orphanet:394529 Orphanet:557494 obsolete subtype of a disorder +MONDO:0018333 multiple acyl-CoA dehydrogenase deficiency, mild type MONDO:8000031 Orphanet:394532 Orphanet:557494 obsolete subtype of a disorder +MONDO:0018334 chronic hiccup MONDO:0018497 Orphanet:396 Orphanet:423662 obsolete rare autonomic nervous system disorder +MONDO:0018336 obsolete Silver-Russell syndrome due to a point mutation MONDO:0008394 Orphanet:397590 Orphanet:813 Silver-Russell syndrome +MONDO:0018336 obsolete Silver-Russell syndrome due to a point mutation MONDO:8000031 Orphanet:397590 Orphanet:557494 obsolete subtype of a disorder MONDO:0018337 obsolete severe neonatal lactic acidosis due to NFS1-ISD11 complex deficiency MONDO:0000001 Orphanet:397593 Orphanet:377788 disease +MONDO:0018337 obsolete severe neonatal lactic acidosis due to NFS1-ISD11 complex deficiency MONDO:0017718 Orphanet:397593 Orphanet:309136 obsolete mitochondrial disorder due to a defect in assembly or maturation of the respiratory chain complexes +MONDO:0018339 PrP systemic amyloidosis MONDO:0015245 Orphanet:397606 Orphanet:117569 obsolete rare intestinal disease +MONDO:0018339 PrP systemic amyloidosis MONDO:0015365 Orphanet:397606 Orphanet:140474 obsolete autosomal dominant hereditary sensory and autonomic neuropathy +MONDO:0018339 PrP systemic amyloidosis MONDO:0017234 Orphanet:397606 Orphanet:280400 obsolete inherited prion disease MONDO:0018340 obsolete hereditary isolated aplastic anemia MONDO:0000001 Orphanet:397692 Orphanet:377788 disease +MONDO:0018340 obsolete hereditary isolated aplastic anemia MONDO:0001713 Orphanet:397692 Orphanet:68383 inherited aplastic anemia +MONDO:0018341 3q27.3 microdeletion syndrome MONDO:0035863 Orphanet:397695 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0018342 Joubert syndrome with Jeune asphyxiating thoracic dystrophy MONDO:8000032 Orphanet:397715 Orphanet:377789 obsolete malformation syndrome +MONDO:0018343 periodic paralysis with later-onset distal motor neuropathy MONDO:0016793 Orphanet:397750 Orphanet:254776 obsolete mitochondrial oxidative phosphorylation disorder due to a point mutation of mitochondrial DNA MONDO:0018344 obsolete periodic paralysis with transient compartment-like syndrome MONDO:0000001 Orphanet:397755 Orphanet:377788 disease +MONDO:0018344 obsolete periodic paralysis with transient compartment-like syndrome MONDO:0000995 Orphanet:397755 Orphanet:371433 familial periodic paralysis +MONDO:0018344 obsolete periodic paralysis with transient compartment-like syndrome MONDO:0016122 Orphanet:397755 Orphanet:206976 periodic paralysis +MONDO:0018344 obsolete periodic paralysis with transient compartment-like syndrome MONDO:0957113 Orphanet:397755 Orphanet:98740 neurological muscular channelopathy due to a genetic calcium channel defect +MONDO:0018346 ferro-cerebro-cutaneous syndrome MONDO:0015114 Orphanet:397922 Orphanet:101939 obsolete rare parenchymal liver disease +MONDO:0018346 ferro-cerebro-cutaneous syndrome MONDO:0015115 Orphanet:397922 Orphanet:101940 obsolete rare genetic metabolic liver disease +MONDO:0018346 ferro-cerebro-cutaneous syndrome MONDO:0015508 Orphanet:397922 Orphanet:156604 obsolete hereditary parenchymatous liver disease +MONDO:0018346 ferro-cerebro-cutaneous syndrome MONDO:0015918 Orphanet:397922 Orphanet:182070 obsolete rare neurodegenerative disease +MONDO:0018347 severe intellectual disability-progressive postnatal microcephaly- midline stereotypic hand movements syndrome MONDO:0035862 Orphanet:397933 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome +MONDO:0018349 MAN1B1-congenital disorder of glycosylation MONDO:0018284 Orphanet:397941 Orphanet:371047 obsolete congenital disorder of glycosylation with neurological involvement +MONDO:0018349 MAN1B1-congenital disorder of glycosylation MONDO:0035862 Orphanet:397941 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome +MONDO:0018353 refractory celiac disease MONDO:0015245 Orphanet:398063 Orphanet:117569 obsolete rare intestinal disease +MONDO:0018354 Prader-Willi-like syndrome MONDO:0015890 Orphanet:398073 Orphanet:181387 obsolete rare disorder with congenital hypogonadotropic hypogonadism +MONDO:0018354 Prader-Willi-like syndrome MONDO:0016565 Orphanet:398073 Orphanet:240371 obsolete syndromic genetic obesity +MONDO:0018354 Prader-Willi-like syndrome MONDO:0020016 Orphanet:398073 Orphanet:98033 obsolete rare neurologic disease with psychiatric involvement +MONDO:0018354 Prader-Willi-like syndrome MONDO:0032221 Orphanet:398073 Orphanet:399846 obsolete rare disorder with female infertility due to a congenital hypogonadotropic hypogonadism +MONDO:0018354 Prader-Willi-like syndrome MONDO:0035863 Orphanet:398073 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0018356 secondary neonatal autoimmune disease MONDO:0015939 Orphanet:398091 Orphanet:182228 obsolete systemic autoimmune disease +MONDO:0018362 persistent idiopathic facial pain MONDO:0020009 Orphanet:398147 Orphanet:98006 obsolete rare neurologic disease +MONDO:0018363 focal facial dermal dysplasia MONDO:8000032 Orphanet:398166 Orphanet:377789 obsolete malformation syndrome +MONDO:0018371 nebulin-related early-onset distal myopathy MONDO:0016109 Orphanet:399103 Orphanet:206653 obsolete autosomal recessive distal myopathy +MONDO:0018377 obsolete rare hereditary disease with avascular necrosis MONDO:0018374 Orphanet:399185 Orphanet:399169 secondary avascular necrosis +MONDO:0018377 obsolete rare hereditary disease with avascular necrosis MONDO:0018384 Orphanet:399185 Orphanet:399388 obsolete avascular necrosis of genetic origin +MONDO:0018383 osteonecrosis of genetic origin MONDO:0015958 Orphanet:399380 Orphanet:183524 obsolete rare genetic bone disease +MONDO:0018384 obsolete avascular necrosis of genetic origin MONDO:0018383 Orphanet:399388 Orphanet:399380 osteonecrosis of genetic origin +MONDO:0018385 obsolete osteochondrosis of genetic origin MONDO:0018383 Orphanet:399391 Orphanet:399380 osteonecrosis of genetic origin +MONDO:0018386 obsolete rare male infertility due to hypothalamic-pituitary-gonadal axis disorder MONDO:0020025 Orphanet:399572 Orphanet:98048 obsolete rare male infertility +MONDO:0018387 obsolete rare male infertility due to adrenal disorder MONDO:0018386 Orphanet:399584 Orphanet:399572 obsolete rare male infertility due to hypothalamic-pituitary-gonadal axis disorder +MONDO:0018388 obsolete rare male infertility due to testicular endocrine disorder MONDO:0018386 Orphanet:399685 Orphanet:399572 obsolete rare male infertility due to hypothalamic-pituitary-gonadal axis disorder +MONDO:0018388 obsolete rare male infertility due to testicular endocrine disorder MONDO:0018405 Orphanet:399685 Orphanet:399983 obsolete rare male infertility due to hypothalamic-pituitary-gonadal axis disorder of genetic origin +MONDO:0018389 obsolete male infertility due to gonadal dysgenesis or sperm disorder MONDO:0018404 Orphanet:399764 Orphanet:399980 obsolete rare genetic male infertility +MONDO:0018389 obsolete male infertility due to gonadal dysgenesis or sperm disorder MONDO:0020025 Orphanet:399764 Orphanet:98048 obsolete rare male infertility +MONDO:0018390 obsolete male infertility due to sperm disorder MONDO:0018389 Orphanet:399771 Orphanet:399764 obsolete male infertility due to gonadal dysgenesis or sperm disorder +MONDO:0018391 obsolete male infertility with spermatogenesis disorder MONDO:0018390 Orphanet:399775 Orphanet:399771 obsolete male infertility due to sperm disorder +MONDO:0018392 obsolete male infertility with spermatogenesis disorder due to single gene mutation MONDO:0018391 Orphanet:399786 Orphanet:399775 obsolete male infertility with spermatogenesis disorder MONDO:0018393 obsolete male infertility with azoospermia or oligozoospermia due to single gene mutation MONDO:0000001 Orphanet:399805 Orphanet:377788 disease +MONDO:0018393 obsolete male infertility with azoospermia or oligozoospermia due to single gene mutation MONDO:0018392 Orphanet:399805 Orphanet:399786 obsolete male infertility with spermatogenesis disorder due to single gene mutation +MONDO:0018394 male infertility with teratozoospermia due to single gene mutation MONDO:0018392 Orphanet:399808 Orphanet:399786 obsolete male infertility with spermatogenesis disorder due to single gene mutation +MONDO:0018395 obsolete male infertility due to sperm motility disorder MONDO:0018390 Orphanet:399813 Orphanet:399771 obsolete male infertility due to sperm disorder +MONDO:0018396 obsolete rare male fertility disorder with obstructive azoospermia MONDO:0020091 Orphanet:399824 Orphanet:98343 obsolete male infertility due to obstructive azoospermia +MONDO:0018397 obsolete female infertility due to hypothalamic-pituitary-gonadal axis disorder MONDO:0020026 Orphanet:399831 Orphanet:98049 obsolete rare female infertility +MONDO:0018398 obsolete female infertility due to a congenital hypogonadotropic hypogonadism MONDO:0018397 Orphanet:399839 Orphanet:399831 obsolete female infertility due to hypothalamic-pituitary-gonadal axis disorder +MONDO:0018398 obsolete female infertility due to a congenital hypogonadotropic hypogonadism MONDO:0018411 Orphanet:399839 Orphanet:400011 obsolete rare female infertility due to hypothalamic-pituitary-gonadal axis disorder of genetic origin +MONDO:0018400 obsolete rare female infertility due to an adrenal disorder MONDO:0018397 Orphanet:399849 Orphanet:399831 obsolete female infertility due to hypothalamic-pituitary-gonadal axis disorder +MONDO:0018401 obsolete female infertility due to an anomaly of ovarian function MONDO:0018397 Orphanet:399853 Orphanet:399831 obsolete female infertility due to hypothalamic-pituitary-gonadal axis disorder +MONDO:0018402 obsolete female infertility due to gonadal dysgenesis MONDO:0018410 Orphanet:399877 Orphanet:400008 obsolete rare genetic female infertility +MONDO:0018402 obsolete female infertility due to gonadal dysgenesis MONDO:0020026 Orphanet:399877 Orphanet:98049 obsolete rare female infertility +MONDO:0018403 obsolete female infertility due to an implantation defect MONDO:0020026 Orphanet:399882 Orphanet:98049 obsolete rare female infertility +MONDO:0018404 obsolete rare genetic male infertility MONDO:0017143 Orphanet:399980 Orphanet:275742 obsolete genetic infertility +MONDO:0018405 obsolete rare male infertility due to hypothalamic-pituitary-gonadal axis disorder of genetic origin MONDO:0018404 Orphanet:399983 Orphanet:399980 obsolete rare genetic male infertility +MONDO:0018406 obsolete rare male infertility due to adrenal disorder of genetic origin MONDO:0018405 Orphanet:399994 Orphanet:399983 obsolete rare male infertility due to hypothalamic-pituitary-gonadal axis disorder of genetic origin +MONDO:0018407 obsolete male infertility due to obstructive azoospermia of genetic origin MONDO:0018404 Orphanet:399998 Orphanet:399980 obsolete rare genetic male infertility +MONDO:0018408 cystic echinococcosis MONDO:0015577 Orphanet:400 Orphanet:163588 obsolete rare parasitic disease +MONDO:0018409 obsolete rare genetic disorder with obstructive azoospermia MONDO:0018407 Orphanet:400003 Orphanet:399998 obsolete male infertility due to obstructive azoospermia of genetic origin +MONDO:0018410 obsolete rare genetic female infertility MONDO:0017143 Orphanet:400008 Orphanet:275742 obsolete genetic infertility +MONDO:0018411 obsolete rare female infertility due to hypothalamic-pituitary-gonadal axis disorder of genetic origin MONDO:0018410 Orphanet:400011 Orphanet:400008 obsolete rare genetic female infertility +MONDO:0018412 obsolete rare female infertility due to adrenal disorder of genetic origin MONDO:0018411 Orphanet:400018 Orphanet:400011 obsolete rare female infertility due to hypothalamic-pituitary-gonadal axis disorder of genetic origin +MONDO:0018413 obsolete female infertility due to an anomaly of ovarian function of genetic origin MONDO:0018411 Orphanet:400022 Orphanet:400011 obsolete rare female infertility due to hypothalamic-pituitary-gonadal axis disorder of genetic origin +MONDO:0018414 obsolete female infertility due to an implantation defect of genetic origin MONDO:0018410 Orphanet:400025 Orphanet:400008 obsolete rare genetic female infertility +MONDO:0018416 autosomal recessive spastic paraplegia type 59 MONDO:0015089 Orphanet:401795 Orphanet:100981 obsolete autosomal recessive complex spastic paraplegia +MONDO:0018417 autosomal recessive spastic paraplegia type 60 MONDO:0015089 Orphanet:401800 Orphanet:100981 obsolete autosomal recessive complex spastic paraplegia +MONDO:0018418 autosomal recessive spastic paraplegia type 66 MONDO:0015089 Orphanet:401815 Orphanet:100981 obsolete autosomal recessive complex spastic paraplegia +MONDO:0018419 autosomal recessive spastic paraplegia type 67 MONDO:0015089 Orphanet:401820 Orphanet:100981 obsolete autosomal recessive complex spastic paraplegia +MONDO:0018421 autosomal recessive spastic paraplegia type 69 MONDO:0015089 Orphanet:401830 Orphanet:100981 obsolete autosomal recessive complex spastic paraplegia +MONDO:0018422 autosomal recessive spastic paraplegia type 70 MONDO:0015089 Orphanet:401835 Orphanet:100981 obsolete autosomal recessive complex spastic paraplegia +MONDO:0018423 autosomal recessive spastic paraplegia type 71 MONDO:0015090 Orphanet:401840 Orphanet:100982 obsolete autosomal recessive pure spastic paraplegia +MONDO:0018425 Huntington disease-like syndrome due to C9ORF72 expansions MONDO:0017646 Orphanet:401901 Orphanet:306719 obsolete neurodegenerative disease with chorea +MONDO:0018425 Huntington disease-like syndrome due to C9ORF72 expansions MONDO:0020136 Orphanet:401901 Orphanet:98534 obsolete neurodegenerative disease with dementia +MONDO:0018425 Huntington disease-like syndrome due to C9ORF72 expansions MONDO:0021037 Orphanet:401901 Orphanet:276058 obsolete genetic neurodegenerative disease with dementia +MONDO:0018426 AXIN2-related attenuated familial adenomatous polyposis MONDO:8000031 Orphanet:401911 Orphanet:557494 obsolete subtype of a disorder +MONDO:0018428 9q31.1q31.3 microdeletion syndrome MONDO:0035863 Orphanet:401923 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0018428 9q31.1q31.3 microdeletion syndrome MONDO:8000032 Orphanet:401923 Orphanet:377789 obsolete malformation syndrome +MONDO:0018429 14q24.1q24.3 microdeletion syndrome MONDO:0035863 Orphanet:401935 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0018429 14q24.1q24.3 microdeletion syndrome MONDO:8000032 Orphanet:401935 Orphanet:377789 obsolete malformation syndrome +MONDO:0018430 partial corpus callosum agenesis-cerebellar vermis hypoplasia with posterior fossa cysts syndrome MONDO:0015655 Orphanet:401959 Orphanet:166478 obsolete cerebral malformation with epilepsy +MONDO:0018430 partial corpus callosum agenesis-cerebellar vermis hypoplasia with posterior fossa cysts syndrome MONDO:0017118 Orphanet:401959 Orphanet:269523 obsolete syndrome with a cerebellar malformation as major feature +MONDO:0018430 partial corpus callosum agenesis-cerebellar vermis hypoplasia with posterior fossa cysts syndrome MONDO:8000032 Orphanet:401959 Orphanet:377789 obsolete malformation syndrome +MONDO:0018431 cold-induced sweating syndrome - hyperthermia spectrum MONDO:0015366 Orphanet:401993 Orphanet:140477 obsolete autosomal recessive hereditary sensory and autonomic neuropathy +MONDO:0018433 acute myeloid leukemia with t(6;9)(p23;q34) MONDO:0020078 Orphanet:402014 Orphanet:98277 obsolete acute myeloid leukemia with recurrent genetic anomaly +MONDO:0018434 acute myeloid leukemia with t(9;11)(p22;q23) MONDO:0020078 Orphanet:402017 Orphanet:98277 obsolete acute myeloid leukemia with recurrent genetic anomaly +MONDO:0018435 acute myeloid leukemia with inv3(p21;q26.2) or t(3;3)(p21;q26.2) MONDO:0020078 Orphanet:402020 Orphanet:98277 obsolete acute myeloid leukemia with recurrent genetic anomaly +MONDO:0018436 megakaryoblastic acute myeloid leukemia with t(1;22)(p13;q13) MONDO:0020078 Orphanet:402023 Orphanet:98277 obsolete acute myeloid leukemia with recurrent genetic anomaly +MONDO:0018437 acute myeloid leukemia with NPM1 somatic mutations MONDO:0020078 Orphanet:402026 Orphanet:98277 obsolete acute myeloid leukemia with recurrent genetic anomaly +MONDO:0018438 eosinophilic gastrointestinal disease MONDO:0019997 Orphanet:402029 Orphanet:97935 obsolete rare gastroenterologic disease +MONDO:0018440 autosomal recessive distal renal tubular acidosis MONDO:0019589 Orphanet:402041 Orphanet:90642 obsolete syndromic genetic hearing loss +MONDO:0018440 autosomal recessive distal renal tubular acidosis MONDO:8000031 Orphanet:402041 Orphanet:557494 obsolete subtype of a disorder +MONDO:0018442 acitretin/etretinate embryopathy MONDO:8000032 Orphanet:40366 Orphanet:377789 obsolete malformation syndrome +MONDO:0018443 FBLN1-related developmental delay-central nervous system anomaly-syndactyly syndrome MONDO:0035863 Orphanet:404451 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0018443 FBLN1-related developmental delay-central nervous system anomaly-syndactyly syndrome MONDO:8000032 Orphanet:404451 Orphanet:377789 obsolete malformation syndrome +MONDO:0018444 obsolete female infertility due to fertilization defect MONDO:0018410 Orphanet:404469 Orphanet:400008 obsolete rare genetic female infertility +MONDO:0018444 obsolete female infertility due to fertilization defect MONDO:0020026 Orphanet:404469 Orphanet:98049 obsolete rare female infertility +MONDO:0018445 global developmental delay - lung cysts - overgrowth - Wilms tumor syndrome MONDO:0017891 Orphanet:404476 Orphanet:319328 obsolete inherited renal cancer-predisposing syndrome +MONDO:0018445 global developmental delay - lung cysts - overgrowth - Wilms tumor syndrome MONDO:8000032 Orphanet:404476 Orphanet:377789 obsolete malformation syndrome +MONDO:0018446 autosomal recessive cerebellar ataxia - epilepsy - intellectual disability syndrome MONDO:0035862 Orphanet:404481 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome +MONDO:0018448 clear cell papillary renal cell carcinoma MONDO:8000031 Orphanet:404511 Orphanet:557494 obsolete subtype of a disorder +MONDO:0018450 spinal muscular atrophy with respiratory distress type 2 MONDO:0018451 Orphanet:404521 Orphanet:404538 obsolete X-linked distal hereditary motor neuropathy +MONDO:0018451 obsolete X-linked distal hereditary motor neuropathy MONDO:0018894 Orphanet:404538 Orphanet:53739 distal hereditary motor neuropathy +MONDO:0018453 familial atypical multiple mole melanoma syndrome MONDO:0015950 Orphanet:404560 Orphanet:183487 obsolete inherited skin tumor +MONDO:0018453 familial atypical multiple mole melanoma syndrome MONDO:0019300 Orphanet:404560 Orphanet:79386 obsolete rare skin tumor or hamartoma +MONDO:0018454 obsolete dysostosis of genetic origin MONDO:0015958 Orphanet:404568 Orphanet:183524 obsolete rare genetic bone disease +MONDO:0018454 obsolete dysostosis of genetic origin MONDO:0018457 Orphanet:404568 Orphanet:404584 obsolete rare genetic bone development disorder +MONDO:0018455 obsolete dysostosis of genetic origin with limb anomaly as a major feature MONDO:0018454 Orphanet:404571 Orphanet:404568 obsolete dysostosis of genetic origin +MONDO:0018457 obsolete rare genetic bone development disorder MONDO:0015960 Orphanet:404584 Orphanet:183530 obsolete rare genetic developmental defect during embryogenesis +MONDO:0018458 familial hypocalciuric hypercalcemia MONDO:0015970 Orphanet:405 Orphanet:183634 obsolete rare genetic parathyroid disease and phosphocalcic metabolism disorder +MONDO:0018458 familial hypocalciuric hypercalcemia MONDO:0017024 Orphanet:405 Orphanet:264719 obsolete secondary interstitial lung disease specific to childhood associated with a metabolic disease +MONDO:0018458 familial hypocalciuric hypercalcemia MONDO:0019061 Orphanet:405 Orphanet:68415 obsolete rare parathyroid disease and phosphocalcic metabolism anomaly +MONDO:0018458 familial hypocalciuric hypercalcemia MONDO:0019705 Orphanet:405 Orphanet:93447 obsolete primary bone dysplasia with defective bone mineralization +MONDO:0018461 Angelman syndrome due to a point mutation MONDO:8000031 Orphanet:411511 Orphanet:557494 obsolete subtype of a disorder +MONDO:0018462 Angelman syndrome due to imprinting defect in 15q11-q13 MONDO:8000031 Orphanet:411515 Orphanet:557494 obsolete subtype of a disorder +MONDO:0018463 mild phosphoribosylpyrophosphate synthetase superactivity MONDO:8000031 Orphanet:411536 Orphanet:557494 obsolete subtype of a disorder +MONDO:0018464 severe phosphoribosylpyrophosphate synthetase superactivity MONDO:8000031 Orphanet:411543 Orphanet:557494 obsolete subtype of a disorder +MONDO:0018467 nephropathic infantile cystinosis MONDO:0019743 Orphanet:411629 Orphanet:93593 obsolete nephropathy secondary to a storage or other metabolic disease +MONDO:0018467 nephropathic infantile cystinosis MONDO:8000031 Orphanet:411629 Orphanet:557494 obsolete subtype of a disorder +MONDO:0018469 pulmonary non-tuberculous mycobacterial infection MONDO:0015118 Orphanet:411703 Orphanet:101944 obsolete rare pulmonary disease +MONDO:0018469 pulmonary non-tuberculous mycobacterial infection MONDO:0015575 Orphanet:411703 Orphanet:163582 obsolete rare bacterial infectious disease +MONDO:0018470 renal agenesis MONDO:0019720 Orphanet:411709 Orphanet:93546 obsolete non-syndromic renal or urinary tract malformation +MONDO:0018470 renal agenesis MONDO:8000030 Orphanet:411709 Orphanet:377791 obsolete morphological anomaly +MONDO:0018471 generalized eruptive keratoacanthoma MONDO:0019300 Orphanet:411777 Orphanet:79386 obsolete rare skin tumor or hamartoma +MONDO:0018472 familial isolated trichomegaly MONDO:0021027 Orphanet:411788 Orphanet:183450 obsolete genetic hair anomaly +MONDO:0018473 hyperlipoproteinemia type 3 MONDO:0015901 Orphanet:412 Orphanet:181422 obsolete rare inherited hyperlipidemia +MONDO:0018474 13q12.3 microdeletion syndrome MONDO:0019274 Orphanet:412035 Orphanet:79359 obsolete other epidermal disorder +MONDO:0018474 13q12.3 microdeletion syndrome MONDO:0035863 Orphanet:412035 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0018474 13q12.3 microdeletion syndrome MONDO:8000032 Orphanet:412035 Orphanet:377789 obsolete malformation syndrome +MONDO:0018475 PRKAR1B-related neurodegenerative dementia with intermediate filaments MONDO:0020136 Orphanet:412066 Orphanet:98534 obsolete neurodegenerative disease with dementia +MONDO:0018475 PRKAR1B-related neurodegenerative dementia with intermediate filaments MONDO:0021037 Orphanet:412066 Orphanet:276058 obsolete genetic neurodegenerative disease with dementia +MONDO:0018476 dystonia-aphonia syndrome MONDO:0018329 Orphanet:412217 Orphanet:391711 obsolete persistent combined dystonia +MONDO:0018477 bilirubin encephalopathy MONDO:0019058 Orphanet:415286 Orphanet:68385 obsolete neurometabolic disease +MONDO:0018479 congenital adrenal hyperplasia MONDO:0019590 Orphanet:418 Orphanet:90692 obsolete rare endocrine growth disease +MONDO:0018479 congenital adrenal hyperplasia MONDO:0020999 Orphanet:418 Orphanet:101960 obsolete genetic chronic primary adrenal insufficiency +MONDO:0018483 secondary pulmonary alveolar proteinosis MONDO:0017034 Orphanet:420259 Orphanet:264944 obsolete secondary interstitial lung disease in childhood and adulthood +MONDO:0018484 semicircular canal dehiscence syndrome MONDO:0020017 Orphanet:420402 Orphanet:98036 obsolete rare otorhinolaryngologic disease +MONDO:0018484 semicircular canal dehiscence syndrome MONDO:0032013 Orphanet:420402 Orphanet:377792 obsolete clinical syndrome +MONDO:0018485 glycogen storage disease due to acid maltase deficiency, late-onset MONDO:8000031 Orphanet:420429 Orphanet:557494 obsolete subtype of a disorder +MONDO:0018486 visual snow syndrome MONDO:0034962 Orphanet:420556 Orphanet:519343 obsolete rare ophthalmic disorder with cortical involvement +MONDO:0018488 obsolete rare genetic odontal or periodontal disorder MONDO:0019183 Orphanet:420755 Orphanet:77830 obsolete inherited odontologic disease +MONDO:0018489 autoimmune encephalopathy with parasomnia and obstructive sleep apnea MONDO:0019045 Orphanet:420789 Orphanet:68354 obsolete rare sleep disorder +MONDO:0018489 autoimmune encephalopathy with parasomnia and obstructive sleep apnea MONDO:0020016 Orphanet:420789 Orphanet:98033 obsolete rare neurologic disease with psychiatric involvement +MONDO:0018490 cono-spondylar dysplasia MONDO:0015329 Orphanet:420794 Orphanet:139021 obsolete malformation syndrome with short stature +MONDO:0018490 cono-spondylar dysplasia MONDO:0026187 Orphanet:420794 Orphanet:183570 obsolete genetic malformation syndrome with short stature +MONDO:0018490 cono-spondylar dysplasia MONDO:0035863 Orphanet:420794 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0018490 cono-spondylar dysplasia MONDO:8000032 Orphanet:420794 Orphanet:377789 obsolete malformation syndrome +MONDO:0018492 hereditary clear cell renal cell carcinoma MONDO:0017891 Orphanet:422526 Orphanet:319328 obsolete inherited renal cancer-predisposing syndrome +MONDO:0018493 malignant hyperthermia of anesthesia MONDO:0018753 Orphanet:423 Orphanet:466658 obsolete rare disease with malignant hyperthermia +MONDO:0018494 microcephaly-short stature-intellectual disability-facial dysmorphism syndrome MONDO:0015329 Orphanet:423306 Orphanet:139021 obsolete malformation syndrome with short stature +MONDO:0018494 microcephaly-short stature-intellectual disability-facial dysmorphism syndrome MONDO:0026187 Orphanet:423306 Orphanet:183570 obsolete genetic malformation syndrome with short stature +MONDO:0018494 microcephaly-short stature-intellectual disability-facial dysmorphism syndrome MONDO:0035863 Orphanet:423306 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0018494 microcephaly-short stature-intellectual disability-facial dysmorphism syndrome MONDO:8000032 Orphanet:423306 Orphanet:377789 obsolete malformation syndrome +MONDO:0018495 X-linked intellectual disability-limb spasticity-retinal dystrophy-diabetes insipidus syndrome MONDO:0019058 Orphanet:423479 Orphanet:68385 obsolete neurometabolic disease +MONDO:0018495 X-linked intellectual disability-limb spasticity-retinal dystrophy-diabetes insipidus syndrome MONDO:0034953 Orphanet:423479 Orphanet:519325 obsolete syndromic inherited retinal disorder +MONDO:0018495 X-linked intellectual disability-limb spasticity-retinal dystrophy-diabetes insipidus syndrome MONDO:0035862 Orphanet:423479 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome +MONDO:0018496 obsolete ARX-related encephalopathy-brain malformation spectrum MONDO:0015159 Orphanet:423655 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0018496 obsolete ARX-related encephalopathy-brain malformation spectrum MONDO:0015620 Orphanet:423655 Orphanet:165707 obsolete syndromic urogenital tract malformation +MONDO:0018496 obsolete ARX-related encephalopathy-brain malformation spectrum MONDO:0015921 Orphanet:423655 Orphanet:182079 obsolete ARX-related epileptic encephalopathy +MONDO:0018496 obsolete ARX-related encephalopathy-brain malformation spectrum MONDO:0016055 Orphanet:423655 Orphanet:199639 obsolete syndrome with corpus callosum agenesis /dysgenesis as a major feature +MONDO:0018496 obsolete ARX-related encephalopathy-brain malformation spectrum MONDO:0017122 Orphanet:423655 Orphanet:269573 obsolete genetic syndrome with corpus callosum agenesis/dysgenesis as a major feature +MONDO:0018496 obsolete ARX-related encephalopathy-brain malformation spectrum MONDO:0035863 Orphanet:423655 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0018497 obsolete rare autonomic nervous system disorder MONDO:0020009 Orphanet:423662 Orphanet:98006 obsolete rare neurologic disease +MONDO:0018498 double outlet right ventricle with subaortic or doubly committed ventricular septal defect MONDO:8000031 Orphanet:423693 Orphanet:557494 obsolete subtype of a disorder +MONDO:0018499 double outlet right ventricle with atrioventricular septal defect, pulmonary stenosis, heterotaxy MONDO:8000031 Orphanet:423712 Orphanet:557494 obsolete subtype of a disorder +MONDO:0018500 cutaneous larva migrans MONDO:0015577 Orphanet:423717 Orphanet:163588 obsolete rare parasitic disease +MONDO:0018501 obsolete rare carcinoma of stomach MONDO:0018972 Orphanet:423771 Orphanet:63443 obsolete rare epithelial tumor of stomach +MONDO:0018502 hereditary gastric cancer MONDO:0018501 Orphanet:423776 Orphanet:423771 obsolete rare carcinoma of stomach +MONDO:0018504 undifferentiated carcinoma of stomach MONDO:0018501 Orphanet:423786 Orphanet:423771 obsolete rare carcinoma of stomach +MONDO:0018505 obsolete rare tumor of small intestine MONDO:0015186 Orphanet:423793 Orphanet:104011 obsolete rare tumor of intestine +MONDO:0018506 mesenchymal tumor of small intestine MONDO:0018505 Orphanet:423798 Orphanet:423793 obsolete rare tumor of small intestine +MONDO:0018507 microcephaly-complex motor and sensory axonal neuropathy syndrome MONDO:0019601 Orphanet:423894 Orphanet:91024 obsolete autosomal recessive axonal hereditary motor and sensory neuropathy +MONDO:0018508 obsolete rare carcinoma of small intestine MONDO:0018539 Orphanet:423957 Orphanet:425368 obsolete rare epithelial tumor of small intestine +MONDO:0018509 squamous cell carcinoma of the small intestine MONDO:0018508 Orphanet:423968 Orphanet:423957 obsolete rare carcinoma of small intestine +MONDO:0018510 small intestine neuroendocrine neoplasm MONDO:0018539 Orphanet:423975 Orphanet:425368 obsolete rare epithelial tumor of small intestine +MONDO:0018510 small intestine neuroendocrine neoplasm MONDO:0028618 Orphanet:423975 Orphanet:481508 obsolete gastroenteric neuroendocrine neoplasm +MONDO:0018511 epithelial tumor of the appendix MONDO:0015186 Orphanet:423982 Orphanet:104011 obsolete rare tumor of intestine +MONDO:0018512 obsolete rare epithelial tumor of colon MONDO:0015186 Orphanet:423991 Orphanet:104011 obsolete rare tumor of intestine +MONDO:0018513 squamous cell carcinoma of colon MONDO:0018512 Orphanet:423994 Orphanet:423991 obsolete rare epithelial tumor of colon +MONDO:0018514 obsolete rare epithelial tumor of rectum MONDO:0015186 Orphanet:423998 Orphanet:104011 obsolete rare tumor of intestine +MONDO:0018515 squamous cell carcinoma of rectum MONDO:0018514 Orphanet:424002 Orphanet:423998 obsolete rare epithelial tumor of rectum +MONDO:0018516 epithelial tumor of anal canal MONDO:0015186 Orphanet:424010 Orphanet:104011 obsolete rare tumor of intestine +MONDO:0018520 obsolete rare epithelial tumor of pancreas MONDO:0015882 Orphanet:424033 Orphanet:180824 obsolete rare tumor of pancreas +MONDO:0018521 squamous cell carcinoma of pancreas MONDO:0016314 Orphanet:424039 Orphanet:217074 obsolete rare carcinoma of pancreas +MONDO:0018523 pancreatic mucinous cystadenoma MONDO:0016314 Orphanet:424053 Orphanet:217074 obsolete rare carcinoma of pancreas +MONDO:0018525 solid pseudopapillary carcinoma of pancreas MONDO:0016314 Orphanet:424065 Orphanet:217074 obsolete rare carcinoma of pancreas +MONDO:0018529 obsolete qualitative or quantitative defects of Torsin-1A-interacting protein 1 MONDO:0016139 Orphanet:424925 Orphanet:207049 qualitative or quantitative protein defects in neuromuscular diseases +MONDO:0018530 obsolete rare epithelial tumor of liver and intrahepatic biliary tract MONDO:0017632 Orphanet:424933 Orphanet:306636 obsolete rare tumor of liver and intrahepatic biliary tract +MONDO:0018531 carcinoma of liver and intrahepatic biliary tract MONDO:0018530 Orphanet:424936 Orphanet:424933 obsolete rare epithelial tumor of liver and intrahepatic biliary tract MONDO:0018532 obsolete adenocarcinoma of liver and intrahepatic biliary tract MONDO:0000001 Orphanet:424943 Orphanet:377788 disease +MONDO:0018532 obsolete adenocarcinoma of liver and intrahepatic biliary tract MONDO:0018531 Orphanet:424943 Orphanet:424936 carcinoma of liver and intrahepatic biliary tract +MONDO:0018538 obsolete inherited digestive cancer-predisposing syndrome MONDO:0015356 Orphanet:425003 Orphanet:140162 hereditary neoplastic syndrome +MONDO:0018538 obsolete inherited digestive cancer-predisposing syndrome MONDO:0019997 Orphanet:425003 Orphanet:97935 obsolete rare gastroenterologic disease +MONDO:0018539 obsolete rare epithelial tumor of small intestine MONDO:0018505 Orphanet:425368 Orphanet:423793 obsolete rare tumor of small intestine +MONDO:0018541 familial hypoaldosteronism MONDO:0015971 Orphanet:427 Orphanet:183637 obsolete rare genetic adrenal disease +MONDO:0018543 autosomal dominant hypocalcemia MONDO:8000031 Orphanet:428 Orphanet:557494 obsolete subtype of a disorder +MONDO:0018544 adrenoleukodystrophy MONDO:0015906 Orphanet:43 Orphanet:181441 obsolete rare disorder with hypergonadotropic hypogonadism +MONDO:0018544 adrenoleukodystrophy MONDO:0015918 Orphanet:43 Orphanet:182070 obsolete rare neurodegenerative disease +MONDO:0018544 adrenoleukodystrophy MONDO:0016398 Orphanet:43 Orphanet:225686 obsolete peroxisomal disease with epilepsy +MONDO:0018544 adrenoleukodystrophy MONDO:0019058 Orphanet:43 Orphanet:68385 obsolete neurometabolic disease +MONDO:0018544 adrenoleukodystrophy MONDO:0020142 Orphanet:43 Orphanet:98543 obsolete metabolic disease with dementia +MONDO:0018544 adrenoleukodystrophy MONDO:0020999 Orphanet:43 Orphanet:101960 obsolete genetic chronic primary adrenal insufficiency +MONDO:0018545 obsolete primary immunodeficiency with predisposition to severe viral infection MONDO:0015135 Orphanet:431156 Orphanet:101988 obsolete primary immunodeficiency due to a genetic defect in innate immunity +MONDO:0018546 serotonin syndrome MONDO:0018753 Orphanet:43116 Orphanet:466658 obsolete rare disease with malignant hyperthermia +MONDO:0018547 acute tricyclic antidepressant poisoning MONDO:0017633 Orphanet:43117 Orphanet:306640 obsolete rare intoxication due to medical products +MONDO:0018547 acute tricyclic antidepressant poisoning MONDO:0032014 Orphanet:43117 Orphanet:377793 obsolete particular clinical situation in a disease or syndrome +MONDO:0018548 acute poisoning by drugs with membrane-stabilizing effect MONDO:0017633 Orphanet:43119 Orphanet:306640 obsolete rare intoxication due to medical products +MONDO:0018548 acute poisoning by drugs with membrane-stabilizing effect MONDO:0032014 Orphanet:43119 Orphanet:377793 obsolete particular clinical situation in a disease or syndrome +MONDO:0018549 obsolete late-onset scapuloperoneal muscular dystrophy with hyaline bodies MONDO:0016106 Orphanet:431263 Orphanet:206644 progressive muscular dystrophy +MONDO:0018550 obsolete spastic paraplegia-optic atrophy-neuropathy and spastic paraplegia-optic atrophy-neuropathy-related disorder MONDO:0015089 Orphanet:431320 Orphanet:100981 obsolete autosomal recessive complex spastic paraplegia +MONDO:0018550 obsolete spastic paraplegia-optic atrophy-neuropathy and spastic paraplegia-optic atrophy-neuropathy-related disorder MONDO:0015626 Orphanet:431320 Orphanet:166 Charcot-Marie-Tooth disease +MONDO:0018550 obsolete spastic paraplegia-optic atrophy-neuropathy and spastic paraplegia-optic atrophy-neuropathy-related disorder MONDO:0018609 Orphanet:431320 Orphanet:441434 obsolete syndromic hereditary optic neuropathy +MONDO:0018551 patent urachus MONDO:8000030 Orphanet:431341 Orphanet:377791 obsolete morphological anomaly +MONDO:0018552 urachal sinus MONDO:8000030 Orphanet:431344 Orphanet:377791 obsolete morphological anomaly +MONDO:0018553 urachal diverticulum MONDO:8000030 Orphanet:431347 Orphanet:377791 obsolete morphological anomaly +MONDO:0018554 pulmonary veno-occlusive disease and/or pulmonary capillary haemangiomatosis MONDO:0015510 Orphanet:431353 Orphanet:156610 obsolete rare genetic respiratory disease +MONDO:0018554 pulmonary veno-occlusive disease and/or pulmonary capillary haemangiomatosis MONDO:0019096 Orphanet:431353 Orphanet:71198 obsolete rare pulmonary hypertension +MONDO:0018555 hypogonadotropic hypogonadism MONDO:8000031 Orphanet:432 Orphanet:557494 obsolete subtype of a disorder +MONDO:0018556 Lambert-Eaton myasthenic syndrome MONDO:0018743 Orphanet:43393 Orphanet:464764 obsolete immune-mediated acquired neuromuscular junction disease +MONDO:0018556 Lambert-Eaton myasthenic syndrome MONDO:0038268 Orphanet:43393 Orphanet:98750 obsolete autoimmune neurological channelopathy +MONDO:0018557 obsolete rare genetic autonomic nervous system disorder MONDO:0019117 Orphanet:434786 Orphanet:71859 obsolete genetic nervous system disorder +MONDO:0018558 obsolete syndrome with wooly hair MONDO:0019282 Orphanet:434809 Orphanet:79367 obsolete syndromic hair shaft abnormality +MONDO:0018559 fetal lower urinary tract obstruction MONDO:0015934 Orphanet:435365 Orphanet:182124 obsolete non-syndromic urogenital tract malformation of male and female +MONDO:0018559 fetal lower urinary tract obstruction MONDO:0019720 Orphanet:435365 Orphanet:93546 obsolete non-syndromic renal or urinary tract malformation +MONDO:0018560 obsolete anterior urethral valve MONDO:0018559 Orphanet:435372 Orphanet:435365 fetal lower urinary tract obstruction +MONDO:0018560 obsolete anterior urethral valve MONDO:8000030 Orphanet:435372 Orphanet:377791 obsolete morphological anomaly +MONDO:0018561 precocious puberty in female MONDO:0015860 Orphanet:435561 Orphanet:180208 obsolete anomaly of puberty or/and menstrual cycle +MONDO:0018562 obsolete hereditary otorhinolaryngological malformation MONDO:0015961 Orphanet:435603 Orphanet:183583 obsolete hereditary head and neck malformation +MONDO:0018562 obsolete hereditary otorhinolaryngological malformation MONDO:0018751 Orphanet:435603 Orphanet:466084 hereditary otorhinolaryngologic disease +MONDO:0018564 3p25.3 microdeletion syndrome MONDO:0035862 Orphanet:435638 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome +MONDO:0018564 3p25.3 microdeletion syndrome MONDO:8000032 Orphanet:435638 Orphanet:377789 obsolete malformation syndrome +MONDO:0018565 congenital urachal anomaly MONDO:0015934 Orphanet:435743 Orphanet:182124 obsolete non-syndromic urogenital tract malformation of male and female +MONDO:0018565 congenital urachal anomaly MONDO:0019720 Orphanet:435743 Orphanet:93546 obsolete non-syndromic renal or urinary tract malformation +MONDO:0018566 short stature-advanced bone age-early-onset osteoarthritis syndrome MONDO:0018239 Orphanet:435804 Orphanet:364817 obsolete aggrecan-related bone disorder +MONDO:0018569 X-linked microcephaly-growth retardation-prognathism-cryptorchidism syndrome MONDO:0035863 Orphanet:435938 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0018569 X-linked microcephaly-growth retardation-prognathism-cryptorchidism syndrome MONDO:8000032 Orphanet:435938 Orphanet:377789 obsolete malformation syndrome +MONDO:0018570 hypophosphatasia MONDO:0019705 Orphanet:436 Orphanet:93447 obsolete primary bone dysplasia with defective bone mineralization +MONDO:0018571 contractures-developmental delay-Pierre Robin syndrome MONDO:0024147 Orphanet:436003 Orphanet:138047 obsolete Pierre Robin syndrome associated with a chromosomal anomaly +MONDO:0018571 contractures-developmental delay-Pierre Robin syndrome MONDO:0035863 Orphanet:436003 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0018571 contractures-developmental delay-Pierre Robin syndrome MONDO:8000032 Orphanet:436003 Orphanet:377789 obsolete malformation syndrome +MONDO:0018572 severe intellectual disability-hypotonia-strabismus-coarse face-planovalgus syndrome MONDO:0020253 Orphanet:436141 Orphanet:98683 obsolete syndrome with a symptomatic strabismus +MONDO:0018572 severe intellectual disability-hypotonia-strabismus-coarse face-planovalgus syndrome MONDO:0035863 Orphanet:436141 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0018572 severe intellectual disability-hypotonia-strabismus-coarse face-planovalgus syndrome MONDO:8000032 Orphanet:436141 Orphanet:377789 obsolete malformation syndrome +MONDO:0018573 intrauterine growth restriction-short stature-early adult-onset diabetes syndrome MONDO:0015885 Orphanet:436144 Orphanet:181368 obsolete rare insulin-resistance syndrome MONDO:0018574 obsolete intellectual disability-expressive aphasia-facial dysmorphism syndrome MONDO:0000001 Orphanet:436151 Orphanet:377788 disease +MONDO:0018574 obsolete intellectual disability-expressive aphasia-facial dysmorphism syndrome MONDO:0015159 Orphanet:436151 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0018574 obsolete intellectual disability-expressive aphasia-facial dysmorphism syndrome MONDO:0035863 Orphanet:436151 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0018575 obsolete microcephalic primordial dwarfism-insulin resistance syndrome MONDO:0015885 Orphanet:436182 Orphanet:181368 obsolete rare insulin-resistance syndrome +MONDO:0018575 obsolete microcephalic primordial dwarfism-insulin resistance syndrome MONDO:0019852 Orphanet:436182 Orphanet:95710 inherited primary ovarian failure +MONDO:0018575 obsolete microcephalic primordial dwarfism-insulin resistance syndrome MONDO:0034443 Orphanet:436182 Orphanet:485382 obsolete genetic non-acquired premature ovarian failure +MONDO:0018575 obsolete microcephalic primordial dwarfism-insulin resistance syndrome MONDO:8000032 Orphanet:436182 Orphanet:377789 obsolete malformation syndrome +MONDO:0018576 non-progressive predominantly posterior cavitating leukoencephalopathy with peripheral neuropathy MONDO:0016133 Orphanet:436271 Orphanet:207018 obsolete rare hereditary metabolic disease with peripheral neuropathy +MONDO:0018576 non-progressive predominantly posterior cavitating leukoencephalopathy with peripheral neuropathy MONDO:0016799 Orphanet:436271 Orphanet:254822 obsolete mitochondrial oxidative phosphorylation disorder with no known mechanism +MONDO:0018576 non-progressive predominantly posterior cavitating leukoencephalopathy with peripheral neuropathy MONDO:0019058 Orphanet:436271 Orphanet:68385 obsolete neurometabolic disease +MONDO:0018577 pseudoxanthoma elasticum-like skin manifestations with retinitis pigmentosa MONDO:0020240 Orphanet:436274 Orphanet:98661 obsolete syndromic retinitis pigmentosa +MONDO:0018579 obsolete disorder of ketone body transport MONDO:0019223 Orphanet:438072 Orphanet:79174 disorder of fatty acid and ketone body metabolism MONDO:0018580 obsolete PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome MONDO:0000001 Orphanet:438213 Orphanet:377788 disease +MONDO:0018580 obsolete PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome MONDO:0015159 Orphanet:438213 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0018580 obsolete PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome MONDO:0035863 Orphanet:438213 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0018581 progressive encephalomyelitis with rigidity and myoclonus MONDO:8000031 Orphanet:438266 Orphanet:557494 obsolete subtype of a disorder +MONDO:0018582 GCGR-related hyperglucagonemia MONDO:0015621 Orphanet:438274 Orphanet:165711 obsolete rare abdominal surgical disease +MONDO:0018582 GCGR-related hyperglucagonemia MONDO:0015882 Orphanet:438274 Orphanet:180824 obsolete rare tumor of pancreas +MONDO:0018583 human infection by orthopoxvirus MONDO:0015576 Orphanet:438279 Orphanet:163585 obsolete rare viral disease +MONDO:0018585 pediatric arterial ischemic stroke MONDO:0019110 Orphanet:439175 Orphanet:71281 obsolete rare central nervous system or retinal vascular disease +MONDO:0018585 pediatric arterial ischemic stroke MONDO:0024471 Orphanet:439175 Orphanet:496924 obsolete non-inflammatory vasculopathy +MONDO:0018585 pediatric arterial ischemic stroke MONDO:0032013 Orphanet:439175 Orphanet:377792 obsolete clinical syndrome +MONDO:0018586 zinc-responsive necrolytic acral erythema MONDO:0019274 Orphanet:439196 Orphanet:79359 obsolete other epidermal disorder +MONDO:0018586 zinc-responsive necrolytic acral erythema MONDO:0032014 Orphanet:439196 Orphanet:377793 obsolete particular clinical situation in a disease or syndrome +MONDO:0018591 ITM2B amyloidosis MONDO:0020136 Orphanet:439254 Orphanet:98534 obsolete neurodegenerative disease with dementia +MONDO:0018591 ITM2B amyloidosis MONDO:0021037 Orphanet:439254 Orphanet:276058 obsolete genetic neurodegenerative disease with dementia +MONDO:0018593 primary polyarteritis nodosa MONDO:8000031 Orphanet:439737 Orphanet:557494 obsolete subtype of a disorder +MONDO:0018594 secondary polyarteritis nodosa MONDO:8000031 Orphanet:439746 Orphanet:557494 obsolete subtype of a disorder +MONDO:0018597 plastic bronchitis MONDO:0015118 Orphanet:439881 Orphanet:101944 obsolete rare pulmonary disease +MONDO:0018597 plastic bronchitis MONDO:0032014 Orphanet:439881 Orphanet:377793 obsolete particular clinical situation in a disease or syndrome MONDO:0018598 obsolete neonatal adrenoleukodystrophy MONDO:0000001 Orphanet:44 Orphanet:377788 disease +MONDO:0018598 obsolete neonatal adrenoleukodystrophy MONDO:0016398 Orphanet:44 Orphanet:225686 obsolete peroxisomal disease with epilepsy +MONDO:0018598 obsolete neonatal adrenoleukodystrophy MONDO:0019234 Orphanet:44 Orphanet:79189 peroxisome biogenesis disorder +MONDO:0018598 obsolete neonatal adrenoleukodystrophy MONDO:0020228 Orphanet:44 Orphanet:98644 obsolete cataract associated with a metabolic disease +MONDO:0018598 obsolete neonatal adrenoleukodystrophy MONDO:0020253 Orphanet:44 Orphanet:98683 obsolete syndrome with a symptomatic strabismus +MONDO:0018598 obsolete neonatal adrenoleukodystrophy MONDO:0020999 Orphanet:44 Orphanet:101960 obsolete genetic chronic primary adrenal insufficiency +MONDO:0018600 congenital abducens nerve palsy MONDO:0034965 Orphanet:440233 Orphanet:519349 obsolete rare ophthalmic disorder with cranial nerve involvement +MONDO:0018601 autosomal dominant myopia-midfacial retrusion-sensorineural hearing loss-rhizomelic dysplasia syndrome MONDO:0019589 Orphanet:440354 Orphanet:90642 obsolete syndromic genetic hearing loss +MONDO:0018601 autosomal dominant myopia-midfacial retrusion-sensorineural hearing loss-rhizomelic dysplasia syndrome MONDO:0019697 Orphanet:440354 Orphanet:93438 obsolete mesomelic and rhizo-mesomelic dysplasia +MONDO:0018601 autosomal dominant myopia-midfacial retrusion-sensorineural hearing loss-rhizomelic dysplasia syndrome MONDO:0800087 Orphanet:440354 Orphanet:93422 obsolete type 11 collagen-related bone disorder +MONDO:0018601 autosomal dominant myopia-midfacial retrusion-sensorineural hearing loss-rhizomelic dysplasia syndrome MONDO:8000032 Orphanet:440354 Orphanet:377789 obsolete malformation syndrome +MONDO:0018602 necrotizing soft tissue infection MONDO:0015575 Orphanet:440368 Orphanet:163582 obsolete rare bacterial infectious disease +MONDO:0018603 interstitial lung disease due to SP-C deficiency MONDO:0017032 Orphanet:440392 Orphanet:264930 obsolete primary interstitial lung disease in childhood and adulthood due to alveolar structure disorder +MONDO:0018603 interstitial lung disease due to SP-C deficiency MONDO:0028569 Orphanet:440392 Orphanet:264992 obsolete genetic interstitial lung disease +MONDO:0018607 combined hamartoma of the retina and retinal pigment epithelium MONDO:0015121 Orphanet:440727 Orphanet:101950 obsolete rare eye tumor +MONDO:0018608 pure autonomic failure MONDO:0018497 Orphanet:441 Orphanet:423662 obsolete rare autonomic nervous system disorder +MONDO:0018609 obsolete syndromic hereditary optic neuropathy MONDO:0020249 Orphanet:441434 Orphanet:98671 hereditary optic neuropathy +MONDO:0018612 congenital hypothyroidism MONDO:0015893 Orphanet:442 Orphanet:181396 obsolete rare hypothyroidism +MONDO:0018612 congenital hypothyroidism MONDO:0019590 Orphanet:442 Orphanet:90692 obsolete rare endocrine growth disease +MONDO:0018614 undetermined early-onset epileptic encephalopathy MONDO:0035862 Orphanet:442835 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome +MONDO:0018617 baroreflex failure MONDO:0018497 Orphanet:443084 Orphanet:423662 obsolete rare autonomic nervous system disorder +MONDO:0018617 baroreflex failure MONDO:0032013 Orphanet:443084 Orphanet:377792 obsolete clinical syndrome +MONDO:0018618 obsolete 46,XY disorder of sexual development due to dihydrotestosterone backdoor pathway biosynthesis defect MONDO:0017970 Orphanet:443090 Orphanet:325357 obsolete 46,XY disorder of sex development due to impaired androgen production +MONDO:0018620 hypothalamic adipsic hypernatraemia syndrome MONDO:0015889 Orphanet:443101 Orphanet:181384 obsolete rare hypothalamic or pituitary disease +MONDO:0018620 hypothalamic adipsic hypernatraemia syndrome MONDO:0016756 Orphanet:443101 Orphanet:252190 obsolete inherited nervous system cancer-predisposing syndrome +MONDO:0018623 postpartum psychosis MONDO:0015582 Orphanet:443173 Orphanet:163637 obsolete rare disorder related with pregnancy, childbirth and puerperium +MONDO:0018623 postpartum psychosis MONDO:0020016 Orphanet:443173 Orphanet:98033 obsolete rare neurologic disease with psychiatric involvement +MONDO:0018624 spontaneous intracranial hypotension MONDO:0020011 Orphanet:443180 Orphanet:98022 obsolete rare headache disorder +MONDO:0018625 classic stiff person syndrome MONDO:8000031 Orphanet:443192 Orphanet:557494 obsolete subtype of a disorder +MONDO:0018628 HIV-associated cancer MONDO:0032014 Orphanet:443291 Orphanet:377793 obsolete particular clinical situation in a disease or syndrome +MONDO:0018629 focal stiff limb syndrome MONDO:8000031 Orphanet:443804 Orphanet:557494 obsolete subtype of a disorder +MONDO:0018630 hereditary nonpolyposis colon cancer MONDO:0017128 Orphanet:443909 Orphanet:271835 obsolete inherited digestive tract tumor +MONDO:0018630 hereditary nonpolyposis colon cancer MONDO:0018538 Orphanet:443909 Orphanet:425003 obsolete inherited digestive cancer-predisposing syndrome +MONDO:0018630 hereditary nonpolyposis colon cancer MONDO:0035645 Orphanet:443909 Orphanet:589746 obsolete inherited gynecological cancer-predisposing syndrome +MONDO:0018631 Marie Unna hereditary hypotrichosis MONDO:0021034 Orphanet:444 Orphanet:481771 obsolete hereditary alopecia +MONDO:0018632 11q22.2q22.3 microdeletion syndrome MONDO:0035863 Orphanet:444002 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0018632 11q22.2q22.3 microdeletion syndrome MONDO:8000032 Orphanet:444002 Orphanet:377789 obsolete malformation syndrome +MONDO:0018633 20q11.2 microdeletion syndrome MONDO:0035863 Orphanet:444051 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0018633 20q11.2 microdeletion syndrome MONDO:8000032 Orphanet:444051 Orphanet:377789 obsolete malformation syndrome +MONDO:0018634 hereditary amyloidosis MONDO:0028795 Orphanet:444116 Orphanet:271870 obsolete rare genetic systemic or rheumatologic disease +MONDO:0018636 autoimmune hemolytic anemia-autoimmune thrombocytopenia-primary immunodeficiency syndrome MONDO:0015709 Orphanet:444463 Orphanet:169355 obsolete immunodeficiency syndrome with autoimmunity +MONDO:0018636 autoimmune hemolytic anemia-autoimmune thrombocytopenia-primary immunodeficiency syndrome MONDO:0015939 Orphanet:444463 Orphanet:182228 obsolete systemic autoimmune disease +MONDO:0018637 familial chylomicronemia syndrome MONDO:0015901 Orphanet:444490 Orphanet:181422 obsolete rare inherited hyperlipidemia +MONDO:0018638 pseudohypoaldosteronism MONDO:0019744 Orphanet:444916 Orphanet:93603 obsolete rare renal tubular disease +MONDO:0018639 caudal regression-sirenomelia spectrum MONDO:0015226 Orphanet:444941 Orphanet:109009 obsolete syndrome with limb malformations as a major feature +MONDO:0018639 caudal regression-sirenomelia spectrum MONDO:0015246 Orphanet:444941 Orphanet:117573 obsolete syndromic anorectal malformation +MONDO:0018639 caudal regression-sirenomelia spectrum MONDO:0015620 Orphanet:444941 Orphanet:165707 obsolete syndromic urogenital tract malformation +MONDO:0018644 autosomal dominant complex spastic paraplegia type 9B MONDO:0017914 Orphanet:447757 Orphanet:320342 obsolete pure or complex autosomal dominant spastic paraplegia +MONDO:0018645 IgG4-related sclerosing cholangitis MONDO:8000031 Orphanet:447764 Orphanet:557494 obsolete subtype of a disorder +MONDO:0018646 sclerosing cholangitis MONDO:0015116 Orphanet:447771 Orphanet:101941 obsolete rare biliary tract disease +MONDO:0018648 Keratocystic odontogenic tumor MONDO:0017797 Orphanet:447777 Orphanet:314425 obsolete rare odontologic tumor +MONDO:0018649 obsolete cerebral visual impairment MONDO:0019110 Orphanet:447788 Orphanet:71281 obsolete rare central nervous system or retinal vascular disease +MONDO:0018649 obsolete cerebral visual impairment MONDO:0032013 Orphanet:447788 Orphanet:377792 obsolete clinical syndrome +MONDO:0018649 obsolete cerebral visual impairment MONDO:0034962 Orphanet:447788 Orphanet:519343 obsolete rare ophthalmic disorder with cortical involvement +MONDO:0018651 obsolete lipoyl transferase 2 deficiency MONDO:0016402 Orphanet:447795 Orphanet:225700 obsolete mitochondrial disease with epilepsy +MONDO:0018651 obsolete lipoyl transferase 2 deficiency MONDO:0018424 Orphanet:447795 Orphanet:401854 inherited lipoic acid biosynthesis defect +MONDO:0018651 obsolete lipoyl transferase 2 deficiency MONDO:0019058 Orphanet:447795 Orphanet:68385 obsolete neurometabolic disease +MONDO:0018651 obsolete lipoyl transferase 2 deficiency MONDO:0032011 Orphanet:447795 Orphanet:377790 obsolete biological anomaly +MONDO:0018652 obsolete biological anomaly without phenotypic characterization MONDO:0021198 Orphanet:447874 Orphanet:98053 obsolete rare genetic disease +MONDO:0018653 Polymerase proofreading-related adenomatous polyposis MONDO:8000031 Orphanet:447877 Orphanet:557494 obsolete subtype of a disorder +MONDO:0018654 idiopathic dropped head syndrome MONDO:0032013 Orphanet:447881 Orphanet:377792 obsolete clinical syndrome +MONDO:0018655 hypomyelination-cerebellar atrophy-hypoplasia of the corpus callosum syndrome MONDO:0016055 Orphanet:447893 Orphanet:199639 obsolete syndrome with corpus callosum agenesis /dysgenesis as a major feature +MONDO:0018655 hypomyelination-cerebellar atrophy-hypoplasia of the corpus callosum syndrome MONDO:0017122 Orphanet:447893 Orphanet:269573 obsolete genetic syndrome with corpus callosum agenesis/dysgenesis as a major feature +MONDO:0018655 hypomyelination-cerebellar atrophy-hypoplasia of the corpus callosum syndrome MONDO:0017333 Orphanet:447893 Orphanet:289494 obsolete hypomyelinating leukodystrophy with or without oligondontia and/or hypogonadism +MONDO:0018655 hypomyelination-cerebellar atrophy-hypoplasia of the corpus callosum syndrome MONDO:8000031 Orphanet:447893 Orphanet:557494 obsolete subtype of a disorder +MONDO:0018656 tremor-ataxia-central hypomyelination syndrome MONDO:0017333 Orphanet:447896 Orphanet:289494 obsolete hypomyelinating leukodystrophy with or without oligondontia and/or hypogonadism +MONDO:0018656 tremor-ataxia-central hypomyelination syndrome MONDO:0018609 Orphanet:447896 Orphanet:441434 obsolete syndromic hereditary optic neuropathy +MONDO:0018656 tremor-ataxia-central hypomyelination syndrome MONDO:8000031 Orphanet:447896 Orphanet:557494 obsolete subtype of a disorder +MONDO:0018657 pigmentation defects-palmoplantar keratoderma-skin carcinoma syndrome MONDO:0017671 Orphanet:447961 Orphanet:307804 obsolete autosomal recessive disease with diffuse palmoplantar keratoderma as a major feature +MONDO:0018657 pigmentation defects-palmoplantar keratoderma-skin carcinoma syndrome MONDO:0019183 Orphanet:447961 Orphanet:77830 obsolete inherited odontologic disease +MONDO:0018657 pigmentation defects-palmoplantar keratoderma-skin carcinoma syndrome MONDO:0020014 Orphanet:447961 Orphanet:98027 obsolete rare disease with odontological manifestation +MONDO:0018657 pigmentation defects-palmoplantar keratoderma-skin carcinoma syndrome MONDO:0021034 Orphanet:447961 Orphanet:481771 obsolete hereditary alopecia +MONDO:0018657 pigmentation defects-palmoplantar keratoderma-skin carcinoma syndrome MONDO:0026157 Orphanet:447961 Orphanet:183463 obsolete genetic pigmentation anomaly of the skin +MONDO:0018658 19p13.3 microduplication syndrome MONDO:0035863 Orphanet:447980 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0018658 19p13.3 microduplication syndrome MONDO:8000032 Orphanet:447980 Orphanet:377789 obsolete malformation syndrome +MONDO:0018660 hemophilia MONDO:0019039 Orphanet:448 Orphanet:68334 obsolete rare hemorrhagic disorder due to a constitutional coagulation factors defect +MONDO:0018661 Zika virus infectious disease MONDO:0015576 Orphanet:448237 Orphanet:163585 obsolete rare viral disease +MONDO:0018662 autosomal recessive brachyolmia MONDO:8000032 Orphanet:448242 Orphanet:377789 obsolete malformation syndrome +MONDO:0018663 regressive spondylometaphyseal dysplasia MONDO:8000032 Orphanet:448267 Orphanet:377789 obsolete malformation syndrome +MONDO:0018664 ectopia cordis MONDO:8000030 Orphanet:448270 Orphanet:377791 obsolete morphological anomaly +MONDO:0018666 hepatoblastoma MONDO:0017632 Orphanet:449 Orphanet:306636 obsolete rare tumor of liver and intrahepatic biliary tract +MONDO:0018667 pleural empyema MONDO:0015118 Orphanet:449266 Orphanet:101944 obsolete rare pulmonary disease +MONDO:0018667 pleural empyema MONDO:0032014 Orphanet:449266 Orphanet:377793 obsolete particular clinical situation in a disease or syndrome +MONDO:0018668 scedosporiosis MONDO:0015578 Orphanet:449280 Orphanet:163591 obsolete rare mycosis +MONDO:0018669 snakebite envenomation MONDO:0035328 Orphanet:449285 Orphanet:556508 obsolete rare disorder due to poisoning +MONDO:0018670 symptomatic form of fragile X syndrome in female carrier MONDO:0034443 Orphanet:449291 Orphanet:485382 obsolete genetic non-acquired premature ovarian failure +MONDO:0018671 IgG4-related kidney disease MONDO:8000031 Orphanet:449395 Orphanet:557494 obsolete subtype of a disorder +MONDO:0018672 IgG4-related aortitis MONDO:0015621 Orphanet:449400 Orphanet:165711 obsolete rare abdominal surgical disease +MONDO:0018672 IgG4-related aortitis MONDO:8000031 Orphanet:449400 Orphanet:557494 obsolete subtype of a disorder +MONDO:0018673 IgG4-related pachymeningitis MONDO:0015144 Orphanet:449427 Orphanet:102005 obsolete brain inflammatory disease +MONDO:0018673 IgG4-related pachymeningitis MONDO:8000031 Orphanet:449427 Orphanet:557494 obsolete subtype of a disorder +MONDO:0018674 IgG4-related submandibular gland disease MONDO:0020017 Orphanet:449432 Orphanet:98036 obsolete rare otorhinolaryngologic disease +MONDO:0018674 IgG4-related submandibular gland disease MONDO:8000031 Orphanet:449432 Orphanet:557494 obsolete subtype of a disorder +MONDO:0018675 IgG4-related ophthalmic disorder MONDO:8000031 Orphanet:449563 Orphanet:557494 obsolete subtype of a disorder +MONDO:0018676 eosinophilic angiocentric fibrosis MONDO:0020017 Orphanet:449566 Orphanet:98036 obsolete rare otorhinolaryngologic disease +MONDO:0018677 visceral heterotaxy MONDO:0015213 Orphanet:157769 Orphanet:108971 obsolete non-syndromic visceral malformation +MONDO:0018677 visceral heterotaxy MONDO:0017131 Orphanet:157769 Orphanet:271853 obsolete hereditary cardiac anomaly +MONDO:0018677 visceral heterotaxy MONDO:0020284 Orphanet:450 Orphanet:98716 obsolete heart position anomaly +MONDO:0018677 visceral heterotaxy MONDO:8000030 Orphanet:157769 Orphanet:377791 obsolete morphological anomaly +MONDO:0018678 polyclonal hyperviscosity syndrome MONDO:0032013 Orphanet:450322 Orphanet:377792 obsolete clinical syndrome +MONDO:0018679 primary cutaneous plasmacytosis MONDO:0019546 Orphanet:451602 Orphanet:90077 obsolete other acquired skin disease +MONDO:0018680 cutaneous pseudolymphoma MONDO:0019546 Orphanet:451607 Orphanet:90077 obsolete other acquired skin disease +MONDO:0018681 neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-hip dysplasia syndrome MONDO:0015506 Orphanet:453499 Orphanet:156532 obsolete rare syndrome with cardiac malformations +MONDO:0018681 neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-hip dysplasia syndrome MONDO:0019711 Orphanet:453499 Orphanet:93454 obsolete dysostosis with predominant vertebral and costal involvement +MONDO:0018681 neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-hip dysplasia syndrome MONDO:0035863 Orphanet:453499 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0018681 neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-hip dysplasia syndrome MONDO:8000032 Orphanet:453499 Orphanet:377789 obsolete malformation syndrome +MONDO:0018682 congenital insensitivity to pain with severe intellectual disability MONDO:0015366 Orphanet:453510 Orphanet:140477 obsolete autosomal recessive hereditary sensory and autonomic neuropathy +MONDO:0018682 congenital insensitivity to pain with severe intellectual disability MONDO:0035862 Orphanet:453510 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome +MONDO:0018684 idiopathic neonatal atrial flutter MONDO:0016348 Orphanet:45452 Orphanet:218439 obsolete non-genetic cardiac rhythm disease +MONDO:0018685 incessant infant ventricular tachycardia MONDO:0016348 Orphanet:45453 Orphanet:218439 obsolete non-genetic cardiac rhythm disease +MONDO:0018686 acquired Creutzfeldt-Jakob disease MONDO:0017641 Orphanet:454700 Orphanet:306695 obsolete miscellaneous movement disorder due to neurodegenerative disease +MONDO:0018687 progressive muscular atrophy MONDO:0015918 Orphanet:454706 Orphanet:182070 obsolete rare neurodegenerative disease +MONDO:0018692 variably protease-sensitive prionopathy MONDO:0017641 Orphanet:454742 Orphanet:306695 obsolete miscellaneous movement disorder due to neurodegenerative disease +MONDO:0018692 variably protease-sensitive prionopathy MONDO:0035561 Orphanet:454742 Orphanet:576356 obsolete sporadic human prion disease +MONDO:0018694 isolated tracheo-esophageal fistula MONDO:0015207 Orphanet:454750 Orphanet:108959 obsolete non-syndromic esophageal malformation +MONDO:0018694 isolated tracheo-esophageal fistula MONDO:0015221 Orphanet:454750 Orphanet:108993 obsolete non-syndromic respiratory or mediastinal malformation +MONDO:0018694 isolated tracheo-esophageal fistula MONDO:0015930 Orphanet:454750 Orphanet:182111 obsolete respiratory malformation +MONDO:0018694 isolated tracheo-esophageal fistula MONDO:8000030 Orphanet:454750 Orphanet:377791 obsolete morphological anomaly +MONDO:0018695 avian influenza MONDO:0015118 Orphanet:454836 Orphanet:101944 obsolete rare pulmonary disease +MONDO:0018695 avian influenza MONDO:0015576 Orphanet:454836 Orphanet:163585 obsolete rare viral disease +MONDO:0018696 corticobasal syndrome MONDO:0017635 Orphanet:454887 Orphanet:306666 obsolete parkinsonian syndrome due to neurodegenerative disease +MONDO:0018696 corticobasal syndrome MONDO:0017643 Orphanet:454887 Orphanet:306708 obsolete frontotemporal neurodegeneration with movement disorder +MONDO:0018696 corticobasal syndrome MONDO:0020137 Orphanet:454887 Orphanet:98535 obsolete frontotemporal degeneration with dementia +MONDO:0018697 1p35.2 microdeletion syndrome MONDO:0015329 Orphanet:456298 Orphanet:139021 obsolete malformation syndrome with short stature +MONDO:0018697 1p35.2 microdeletion syndrome MONDO:0019589 Orphanet:456298 Orphanet:90642 obsolete syndromic genetic hearing loss +MONDO:0018697 1p35.2 microdeletion syndrome MONDO:0035863 Orphanet:456298 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0018697 1p35.2 microdeletion syndrome MONDO:8000032 Orphanet:456298 Orphanet:377789 obsolete malformation syndrome +MONDO:0018698 hereditary neuroendocrine tumor of small intestine MONDO:0018538 Orphanet:456333 Orphanet:425003 obsolete inherited digestive cancer-predisposing syndrome +MONDO:0018699 obsolete pseudohypoparathyroidism with Albright hereditary osteodystrophy MONDO:0016565 Orphanet:457059 Orphanet:240371 obsolete syndromic genetic obesity +MONDO:0018699 obsolete pseudohypoparathyroidism with Albright hereditary osteodystrophy MONDO:0018798 Orphanet:457059 Orphanet:477808 obsolete other genetic dermis disorder +MONDO:0018699 obsolete pseudohypoparathyroidism with Albright hereditary osteodystrophy MONDO:0019695 Orphanet:457059 Orphanet:93436 acromelic dysplasia +MONDO:0018699 obsolete pseudohypoparathyroidism with Albright hereditary osteodystrophy MONDO:0019992 Orphanet:457059 Orphanet:97593 pseudohypoparathyroidism +MONDO:0018699 obsolete pseudohypoparathyroidism with Albright hereditary osteodystrophy MONDO:0020232 Orphanet:457059 Orphanet:98648 obsolete musculoskeletal disease with cataract +MONDO:0018699 obsolete pseudohypoparathyroidism with Albright hereditary osteodystrophy MONDO:0021154 Orphanet:457059 Orphanet:79381 dermis disorder +MONDO:0018700 obsolete pseudohypoparathyroidism without Albright hereditary osteodystrophy MONDO:0019992 Orphanet:457062 Orphanet:97593 pseudohypoparathyroidism +MONDO:0018701 obsolete congenital nemaline myopathy MONDO:0019952 Orphanet:457074 Orphanet:97245 congenital myopathy +MONDO:0018702 Castleman-Kojima disease MONDO:0016631 Orphanet:457077 Orphanet:248347 obsolete hemorrhagic disorder due to an acquired platelet anomaly +MONDO:0018703 isolated splenogonadal fusion MONDO:0015213 Orphanet:457083 Orphanet:108971 obsolete non-syndromic visceral malformation +MONDO:0018703 isolated splenogonadal fusion MONDO:8000030 Orphanet:457083 Orphanet:377791 obsolete morphological anomaly +MONDO:0018705 infantile-onset axonal motor and sensory neuropathy-optic atrophy-neurodegenerative syndrome MONDO:0015918 Orphanet:457205 Orphanet:182070 obsolete rare neurodegenerative disease +MONDO:0018705 infantile-onset axonal motor and sensory neuropathy-optic atrophy-neurodegenerative syndrome MONDO:0018609 Orphanet:457205 Orphanet:441434 obsolete syndromic hereditary optic neuropathy +MONDO:0018705 infantile-onset axonal motor and sensory neuropathy-optic atrophy-neurodegenerative syndrome MONDO:0019601 Orphanet:457205 Orphanet:91024 obsolete autosomal recessive axonal hereditary motor and sensory neuropathy +MONDO:0018705 infantile-onset axonal motor and sensory neuropathy-optic atrophy-neurodegenerative syndrome MONDO:0035863 Orphanet:457205 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0018709 X-linked intellectual disability-hypotonia-movement disorder syndrome MONDO:0035862 Orphanet:457260 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome +MONDO:0018710 megalencephaly-severe kyphoscoliosis-overgrowth syndrome MONDO:0035863 Orphanet:457359 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0018710 megalencephaly-severe kyphoscoliosis-overgrowth syndrome MONDO:8000032 Orphanet:457359 Orphanet:377789 obsolete malformation syndrome +MONDO:0018711 intellectual disability-muscle weakness-short stature-facial dysmorphism syndrome MONDO:0015329 Orphanet:457365 Orphanet:139021 obsolete malformation syndrome with short stature +MONDO:0018711 intellectual disability-muscle weakness-short stature-facial dysmorphism syndrome MONDO:0026187 Orphanet:457365 Orphanet:183570 obsolete genetic malformation syndrome with short stature +MONDO:0018711 intellectual disability-muscle weakness-short stature-facial dysmorphism syndrome MONDO:0035863 Orphanet:457365 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0018711 intellectual disability-muscle weakness-short stature-facial dysmorphism syndrome MONDO:8000032 Orphanet:457365 Orphanet:377789 obsolete malformation syndrome +MONDO:0018712 composite hemangioendothelioma MONDO:0016228 Orphanet:458758 Orphanet:211237 obsolete rare vascular tumor +MONDO:0018713 retiform hemangioendothelioma MONDO:0016228 Orphanet:458763 Orphanet:211237 obsolete rare vascular tumor +MONDO:0018714 primary intralymphatic angioendothelioma MONDO:0016228 Orphanet:458768 Orphanet:211237 obsolete rare vascular tumor +MONDO:0018715 congenital hemangioma MONDO:0016228 Orphanet:458775 Orphanet:211237 obsolete rare vascular tumor +MONDO:0018717 mixed cystic lymphatic malformation MONDO:0018720 Orphanet:458792 Orphanet:458833 obsolete common cystic lymphatic malformation +MONDO:0018717 mixed cystic lymphatic malformation MONDO:8000032 Orphanet:458792 Orphanet:377789 obsolete malformation syndrome +MONDO:0018718 obsolete vascular tumor with associated anomalies MONDO:0016228 Orphanet:458827 Orphanet:211237 obsolete rare vascular tumor +MONDO:0018719 obsolete obsolete rare capillary malformation with associated anomalies MONDO:0016231 Orphanet:458830 Orphanet:211247 capillary malformation +MONDO:0018719 obsolete obsolete rare capillary malformation with associated anomalies MONDO:0018728 Orphanet:458830 Orphanet:459526 obsolete rare genetic capillary malformation +MONDO:0018720 obsolete common cystic lymphatic malformation MONDO:0002013 Orphanet:458833 Orphanet:2415 lymphangioma +MONDO:0018721 obsolete rare combined vascular malformation MONDO:0019063 Orphanet:458837 Orphanet:68419 obsolete vascular anomaly +MONDO:0018723 obsolete rare vascular malformation of major vessels MONDO:0019063 Orphanet:458844 Orphanet:68419 obsolete vascular anomaly +MONDO:0018724 X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome MONDO:0017118 Orphanet:459070 Orphanet:269523 obsolete syndrome with a cerebellar malformation as major feature +MONDO:0018724 X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome MONDO:0035863 Orphanet:459070 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0018724 X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome MONDO:8000032 Orphanet:459070 Orphanet:377789 obsolete malformation syndrome +MONDO:0018725 corpus callosum agenesis-macrocephaly-hypertelorism syndrome MONDO:0016055 Orphanet:459074 Orphanet:199639 obsolete syndrome with corpus callosum agenesis /dysgenesis as a major feature +MONDO:0018725 corpus callosum agenesis-macrocephaly-hypertelorism syndrome MONDO:0017122 Orphanet:459074 Orphanet:269573 obsolete genetic syndrome with corpus callosum agenesis/dysgenesis as a major feature +MONDO:0018725 corpus callosum agenesis-macrocephaly-hypertelorism syndrome MONDO:0035863 Orphanet:459074 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0018725 corpus callosum agenesis-macrocephaly-hypertelorism syndrome MONDO:8000032 Orphanet:459074 Orphanet:377789 obsolete malformation syndrome +MONDO:0018727 obsolete immunodeficiency due to a complement regulatory deficiency MONDO:0015136 Orphanet:459348 Orphanet:101992 obsolete immunodeficiency due to a genetic complement cascade protein anomaly +MONDO:0018728 obsolete rare genetic capillary malformation MONDO:0016229 Orphanet:459526 Orphanet:211240 obsolete hereditary vascular anomaly +MONDO:0018729 obsolete genetic vascular tumor MONDO:0016229 Orphanet:459543 Orphanet:211240 obsolete hereditary vascular anomaly +MONDO:0018730 obsolete rare genetic venous malformation MONDO:0016229 Orphanet:459548 Orphanet:211240 obsolete hereditary vascular anomaly +MONDO:0018731 obsolete lethal multiple congenital anomalies/dysmorphic syndrome MONDO:0019042 Orphanet:459787 Orphanet:68341 multiple congenital anomalies/dysmorphic syndrome +MONDO:0018733 intellectual disability syndrome due to a DYRK1A point mutation MONDO:8000031 Orphanet:464311 Orphanet:557494 obsolete subtype of a disorder +MONDO:0018734 verrucous hemangioma MONDO:0016228 Orphanet:464318 Orphanet:211237 obsolete rare vascular tumor +MONDO:0018735 multifocal lymphangioendotheliomatosis-thrombocytopenia syndrome MONDO:0016631 Orphanet:464321 Orphanet:248347 obsolete hemorrhagic disorder due to an acquired platelet anomaly +MONDO:0018736 kaposiform lymphangiomatosis MONDO:0016228 Orphanet:464329 Orphanet:211237 obsolete rare vascular tumor +MONDO:0018737 catastrophic antiphospholipid syndrome MONDO:0015939 Orphanet:464343 Orphanet:182228 obsolete systemic autoimmune disease +MONDO:0018737 catastrophic antiphospholipid syndrome MONDO:0016634 Orphanet:464343 Orphanet:248365 obsolete thrombotic disorder due to an acquired coagulation factors defect +MONDO:0018738 benign metanephric tumor MONDO:0019749 Orphanet:464359 Orphanet:93619 obsolete rare renal tumor +MONDO:0018739 neonatal alloimmune neutropenia MONDO:0015822 Orphanet:464370 Orphanet:178996 obsolete acquired neutropenia +MONDO:0018741 paracetamol poisoning MONDO:0017633 Orphanet:464458 Orphanet:306640 obsolete rare intoxication due to medical products +MONDO:0018741 paracetamol poisoning MONDO:0032014 Orphanet:464458 Orphanet:377793 obsolete particular clinical situation in a disease or syndrome +MONDO:0018742 familial gastric type 1 neuroendocrine tumor MONDO:0018972 Orphanet:464756 Orphanet:63443 obsolete rare epithelial tumor of stomach +MONDO:0018743 obsolete immune-mediated acquired neuromuscular junction disease MONDO:0020125 Orphanet:464764 Orphanet:98494 obsolete acquired neuromuscular junction disease +MONDO:0018745 obsolete superficial pemphigus MONDO:0019337 Orphanet:46485 Orphanet:79669 autoimmune bullous skin disease +MONDO:0018746 mucous membrane pemphigoid MONDO:0020158 Orphanet:46486 Orphanet:98567 obsolete eyelids malposition disorder +MONDO:0018749 hereditary persistence of fetal hemoglobin-beta-thalassemia syndrome MONDO:0016488 Orphanet:46532 Orphanet:231230 obsolete beta-thalassemia associated with another hemoglobin anomaly +MONDO:0018751 hereditary otorhinolaryngologic disease MONDO:0021198 Orphanet:466084 Orphanet:98053 obsolete rare genetic disease +MONDO:0018752 exercise-induced malignant hyperthermia MONDO:0018753 Orphanet:466650 Orphanet:466658 obsolete rare disease with malignant hyperthermia +MONDO:0018753 obsolete rare disease with malignant hyperthermia MONDO:0020009 Orphanet:466658 Orphanet:98006 obsolete rare neurologic disease +MONDO:0018754 cyanide poisoning MONDO:0017633 Orphanet:466670 Orphanet:306640 obsolete rare intoxication due to medical products +MONDO:0018754 cyanide poisoning MONDO:0032014 Orphanet:466670 Orphanet:377793 obsolete particular clinical situation in a disease or syndrome +MONDO:0018755 scorpion envenomation MONDO:0035328 Orphanet:466677 Orphanet:556508 obsolete rare disorder due to poisoning +MONDO:0018757 supratip dysplasia MONDO:0015503 Orphanet:466695 Orphanet:156246 obsolete nose and cavum anomaly +MONDO:0018757 supratip dysplasia MONDO:8000030 Orphanet:466695 Orphanet:377791 obsolete morphological anomaly +MONDO:0018758 obsolete familial patent arterial duct MONDO:0016229 Orphanet:466729 Orphanet:211240 obsolete hereditary vascular anomaly +MONDO:0018758 obsolete familial patent arterial duct MONDO:0017131 Orphanet:466729 Orphanet:271853 obsolete hereditary cardiac anomaly +MONDO:0018758 obsolete familial patent arterial duct MONDO:0019822 Orphanet:466729 Orphanet:95485 obsolete arterial duct anomaly +MONDO:0018758 obsolete familial patent arterial duct MONDO:8000030 Orphanet:466729 Orphanet:377791 obsolete morphological anomaly +MONDO:0018760 DeSanto-Shinawi syndrome MONDO:0035863 Orphanet:466943 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0018760 DeSanto-Shinawi syndrome MONDO:8000032 Orphanet:466943 Orphanet:377789 obsolete malformation syndrome +MONDO:0018761 SMARCA4-deficient sarcoma of thorax MONDO:0020034 Orphanet:466962 Orphanet:98060 obsolete rare respiratory tract neoplasm +MONDO:0018763 tubulinopathy-associated dysgyria MONDO:0016055 Orphanet:467166 Orphanet:199639 obsolete syndrome with corpus callosum agenesis /dysgenesis as a major feature +MONDO:0018763 tubulinopathy-associated dysgyria MONDO:0017118 Orphanet:467166 Orphanet:269523 obsolete syndrome with a cerebellar malformation as major feature +MONDO:0018763 tubulinopathy-associated dysgyria MONDO:0017122 Orphanet:467166 Orphanet:269573 obsolete genetic syndrome with corpus callosum agenesis/dysgenesis as a major feature +MONDO:0018764 microcephalic primordial dwarfism due to RTTN deficiency MONDO:0017950 Orphanet:468631 Orphanet:324761 obsolete microcephalic primordial dwarfism +MONDO:0018764 microcephalic primordial dwarfism due to RTTN deficiency MONDO:8000032 Orphanet:468631 Orphanet:377789 obsolete malformation syndrome +MONDO:0018765 cryptogenic multifocal ulcerous stenosing enteritis MONDO:0015245 Orphanet:468635 Orphanet:117569 obsolete rare intestinal disease +MONDO:0018765 cryptogenic multifocal ulcerous stenosing enteritis MONDO:0015616 Orphanet:468635 Orphanet:165655 obsolete rare genetic intestinal disease +MONDO:0018766 chronic enteropathy associated with SLCO2A1 gene MONDO:0015245 Orphanet:468641 Orphanet:117569 obsolete rare intestinal disease +MONDO:0018766 chronic enteropathy associated with SLCO2A1 gene MONDO:0015616 Orphanet:468641 Orphanet:165655 obsolete rare genetic intestinal disease +MONDO:0018769 isosporiasis MONDO:0015577 Orphanet:472 Orphanet:163588 obsolete rare parasitic disease +MONDO:0018770 Jeune syndrome MONDO:0019744 Orphanet:474 Orphanet:93603 obsolete rare renal tubular disease +MONDO:0018770 Jeune syndrome MONDO:0022409 Orphanet:474 Orphanet:156162 obsolete nephropathy-associated ciliopathy +MONDO:0018770 Jeune syndrome MONDO:8000032 Orphanet:474 Orphanet:377789 obsolete malformation syndrome +MONDO:0018771 obsolete congenital anomaly of ventricular septum MONDO:0019512 Orphanet:474347 Orphanet:88991 congenital heart malformation +MONDO:0018772 Joubert syndrome MONDO:0020130 Orphanet:475 Orphanet:98514 obsolete malformation of the cerebellar vermis +MONDO:0018772 Joubert syndrome MONDO:0035863 Orphanet:475 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0018772 Joubert syndrome MONDO:8000032 Orphanet:475 Orphanet:377789 obsolete malformation syndrome +MONDO:0018774 erythrokeratodermia-cardiomyopathy syndrome MONDO:0016337 Orphanet:476096 Orphanet:217619 obsolete syndrome associated with dilated cardiomyopathy +MONDO:0018774 erythrokeratodermia-cardiomyopathy syndrome MONDO:0019183 Orphanet:476096 Orphanet:77830 obsolete inherited odontologic disease +MONDO:0018774 erythrokeratodermia-cardiomyopathy syndrome MONDO:0020014 Orphanet:476096 Orphanet:98027 obsolete rare disease with odontological manifestation +MONDO:0018774 erythrokeratodermia-cardiomyopathy syndrome MONDO:0026150 Orphanet:476096 Orphanet:183438 obsolete genetic erythrokeratoderma +MONDO:0018775 obsolete axonal hereditary motor and sensory neuropathy MONDO:0015626 Orphanet:476109 Orphanet:166 Charcot-Marie-Tooth disease +MONDO:0018777 autosomal dominant preaxial polydactyly-upperback hypertrichosis syndrome MONDO:0017434 Orphanet:476119 Orphanet:294959 obsolete syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy +MONDO:0018777 autosomal dominant preaxial polydactyly-upperback hypertrichosis syndrome MONDO:8000032 Orphanet:476119 Orphanet:377789 obsolete malformation syndrome +MONDO:0018779 obsolete hypercontractile muscle stiffness syndrome MONDO:0018943 Orphanet:476403 Orphanet:593 myofibrillar myopathy +MONDO:0018780 congenital generalized hypercontractile muscle stiffness syndrome MONDO:0015329 Orphanet:476406 Orphanet:139021 obsolete malformation syndrome with short stature +MONDO:0018780 congenital generalized hypercontractile muscle stiffness syndrome MONDO:0018779 Orphanet:476406 Orphanet:476403 obsolete hypercontractile muscle stiffness syndrome +MONDO:0018780 congenital generalized hypercontractile muscle stiffness syndrome MONDO:0026187 Orphanet:476406 Orphanet:183570 obsolete genetic malformation syndrome with short stature +MONDO:0018781 KID syndrome MONDO:0017671 Orphanet:477 Orphanet:307804 obsolete autosomal recessive disease with diffuse palmoplantar keratoderma as a major feature +MONDO:0018781 KID syndrome MONDO:0019589 Orphanet:477 Orphanet:90642 obsolete syndromic genetic hearing loss +MONDO:0018781 KID syndrome MONDO:0020094 Orphanet:477 Orphanet:98352 obsolete autosomal dominant disease with diffuse palmoplantar keratoderma as a major feature +MONDO:0018781 KID syndrome MONDO:0029102 Orphanet:477 Orphanet:281244 obsolete autosomal ichthyosis syndrome with other associated signs +MONDO:0018782 obsolete type 1 interferonopathy MONDO:0019751 Orphanet:477647 Orphanet:93665 autoinflammatory syndrome +MONDO:0018783 fibroblastic rheumatism MONDO:0015940 Orphanet:477650 Orphanet:182231 obsolete rare rheumatologic disease +MONDO:0018784 pediatric multiple sclerosis MONDO:0016428 Orphanet:477738 Orphanet:228145 obsolete multiple sclerosis variant +MONDO:0018787 obsolete genetic cerebral small vessel disease MONDO:0015953 Orphanet:477754 Orphanet:183503 obsolete genetic central nervous system and retinal vascular disease +MONDO:0018787 obsolete genetic cerebral small vessel disease MONDO:0019110 Orphanet:477754 Orphanet:71281 obsolete rare central nervous system or retinal vascular disease +MONDO:0018788 obsolete COL4A1 or COL4A2-related cerebral small vessel disease MONDO:0018787 Orphanet:477759 Orphanet:477754 obsolete genetic cerebral small vessel disease +MONDO:0018789 obsolete COL4A1 or COL4A2-related cerebral small vessel disease with ischemic tendancy MONDO:0018788 Orphanet:477762 Orphanet:477759 obsolete COL4A1 or COL4A2-related cerebral small vessel disease +MONDO:0018790 obsolete COL4A1 or COL4A2-related cerebral small vessel disease with hemorrhagic tendancy MONDO:0018788 Orphanet:477765 Orphanet:477759 obsolete COL4A1 or COL4A2-related cerebral small vessel disease +MONDO:0018791 obsolete Moyomoya angiopathy MONDO:0019110 Orphanet:477768 Orphanet:71281 obsolete rare central nervous system or retinal vascular disease +MONDO:0018792 obsolete Moyamoya syndrome MONDO:0015953 Orphanet:477771 Orphanet:183503 obsolete genetic central nervous system and retinal vascular disease +MONDO:0018792 obsolete Moyamoya syndrome MONDO:0018791 Orphanet:477771 Orphanet:477768 obsolete Moyomoya angiopathy +MONDO:0018793 primary condylar hyperplasia MONDO:0016221 Orphanet:477781 Orphanet:210581 obsolete temporomandibular joint anomaly +MONDO:0018794 cytosolic phospholipase-A2 alpha deficiency associated bleeding disorder MONDO:0015245 Orphanet:477787 Orphanet:117569 obsolete rare intestinal disease +MONDO:0018794 cytosolic phospholipase-A2 alpha deficiency associated bleeding disorder MONDO:0015616 Orphanet:477787 Orphanet:165655 obsolete rare genetic intestinal disease +MONDO:0018794 cytosolic phospholipase-A2 alpha deficiency associated bleeding disorder MONDO:0017142 Orphanet:477787 Orphanet:275736 obsolete hemorrhagic disorder due to a qualitative platelet defect +MONDO:0018795 syndromic constitutional thrombocytopenia MONDO:0017141 Orphanet:477794 Orphanet:275729 obsolete hemorrhagic disorder due to a constitutional thrombocytopenia +MONDO:0018796 obsolete isolated constitutional thrombocytopenia MONDO:0017141 Orphanet:477797 Orphanet:275729 obsolete hemorrhagic disorder due to a constitutional thrombocytopenia +MONDO:0018797 obsolete genetic cardiac malformation MONDO:0020029 Orphanet:477805 Orphanet:98054 obsolete rare genetic cardiac disease +MONDO:0018798 obsolete other genetic dermis disorder MONDO:0026160 Orphanet:477808 Orphanet:183472 obsolete genetic dermis disorder +MONDO:0018799 obsolete rare hypercholesterolemia MONDO:0015901 Orphanet:477811 Orphanet:181422 obsolete rare inherited hyperlipidemia +MONDO:0018800 Kallmann syndrome MONDO:8000031 Orphanet:478 Orphanet:557494 obsolete subtype of a disorder +MONDO:0018801 congenital bilateral absence of vas deferens MONDO:0015933 Orphanet:48 Orphanet:182121 obsolete non-syndromic urogenital tract malformation of male +MONDO:0018801 congenital bilateral absence of vas deferens MONDO:0018407 Orphanet:48 Orphanet:399998 obsolete male infertility due to obstructive azoospermia of genetic origin +MONDO:0018801 congenital bilateral absence of vas deferens MONDO:0020091 Orphanet:48 Orphanet:98343 obsolete male infertility due to obstructive azoospermia +MONDO:0018801 congenital bilateral absence of vas deferens MONDO:0024987 Orphanet:48 Orphanet:156622 obsolete genetic urogenital tract malformation +MONDO:0018801 congenital bilateral absence of vas deferens MONDO:8000030 Orphanet:48 Orphanet:377791 obsolete morphological anomaly +MONDO:0018804 MYO5B-related progressive familial intrahepatic cholestasis MONDO:8000031 Orphanet:480491 Orphanet:557494 obsolete subtype of a disorder +MONDO:0018805 bile duct cyst MONDO:0015116 Orphanet:480501 Orphanet:101941 obsolete rare biliary tract disease +MONDO:0018805 bile duct cyst MONDO:8000030 Orphanet:480501 Orphanet:377791 obsolete morphological anomaly +MONDO:0018806 primary intrahepatic lithiasis MONDO:0015116 Orphanet:480506 Orphanet:101941 obsolete rare biliary tract disease +MONDO:0018807 idiopathic ductopenia MONDO:0015116 Orphanet:480512 Orphanet:101941 obsolete rare biliary tract disease +MONDO:0018808 Caroli syndrome MONDO:0015116 Orphanet:480520 Orphanet:101941 obsolete rare biliary tract disease +MONDO:0018808 Caroli syndrome MONDO:0015509 Orphanet:480520 Orphanet:156607 obsolete hereditary biliary tract disease +MONDO:0018808 Caroli syndrome MONDO:8000032 Orphanet:480520 Orphanet:377789 obsolete malformation syndrome +MONDO:0018809 idiopathic peliosis hepatis MONDO:0015113 Orphanet:480524 Orphanet:101938 obsolete rare vascular liver disease +MONDO:0018810 lethal hydranencephaly-diaphragmatic hernia syndrome MONDO:0015216 Orphanet:480528 Orphanet:108979 obsolete syndromic diaphragmatic or abdominal wall malformation +MONDO:0018810 lethal hydranencephaly-diaphragmatic hernia syndrome MONDO:0015880 Orphanet:480528 Orphanet:180779 obsolete syndromic diaphragmatic or thoracic malformation +MONDO:0018810 lethal hydranencephaly-diaphragmatic hernia syndrome MONDO:0017120 Orphanet:480528 Orphanet:269531 obsolete other syndrome with a central nervous system malformation as major feature +MONDO:0018810 lethal hydranencephaly-diaphragmatic hernia syndrome MONDO:0018731 Orphanet:480528 Orphanet:459787 obsolete lethal multiple congenital anomalies/dysmorphic syndrome +MONDO:0018810 lethal hydranencephaly-diaphragmatic hernia syndrome MONDO:8000032 Orphanet:480528 Orphanet:377789 obsolete malformation syndrome +MONDO:0018811 congenital portosystemic shunt MONDO:0015113 Orphanet:480531 Orphanet:101938 obsolete rare vascular liver disease +MONDO:0018811 congenital portosystemic shunt MONDO:0017710 Orphanet:480531 Orphanet:3091 obsolete congenital systemic veins anomaly +MONDO:0018811 congenital portosystemic shunt MONDO:8000030 Orphanet:480531 Orphanet:377791 obsolete morphological anomaly +MONDO:0018816 isolated neonatal sclerosing cholangitis MONDO:0015509 Orphanet:480556 Orphanet:156607 obsolete hereditary biliary tract disease +MONDO:0018818 facial diplegia with paresthesias MONDO:0016494 Orphanet:480701 Orphanet:231416 obsolete regional variant of Guillain-Barre syndrome +MONDO:0018820 recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome MONDO:0015110 Orphanet:480864 Orphanet:101934 obsolete genetic cardiac rhythm disease +MONDO:0018820 recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome MONDO:0015918 Orphanet:480864 Orphanet:182070 obsolete rare neurodegenerative disease +MONDO:0018820 recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome MONDO:0016406 Orphanet:480864 Orphanet:225713 obsolete other metabolic disease with epilepsy +MONDO:0018820 recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome MONDO:0035862 Orphanet:480864 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome +MONDO:0018821 X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability MONDO:0015329 Orphanet:480880 Orphanet:139021 obsolete malformation syndrome with short stature +MONDO:0018821 X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability MONDO:0026187 Orphanet:480880 Orphanet:183570 obsolete genetic malformation syndrome with short stature +MONDO:0018821 X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability MONDO:0035863 Orphanet:480880 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0018821 X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability MONDO:8000032 Orphanet:480880 Orphanet:377789 obsolete malformation syndrome +MONDO:0018822 global developmental delay-visual anomalies-progressive cerebellar atrophy-truncal hypotonia syndrome MONDO:0017118 Orphanet:480898 Orphanet:269523 obsolete syndrome with a cerebellar malformation as major feature +MONDO:0018822 global developmental delay-visual anomalies-progressive cerebellar atrophy-truncal hypotonia syndrome MONDO:0034962 Orphanet:480898 Orphanet:519343 obsolete rare ophthalmic disorder with cortical involvement +MONDO:0018822 global developmental delay-visual anomalies-progressive cerebellar atrophy-truncal hypotonia syndrome MONDO:0035863 Orphanet:480898 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0018823 X-linked intellectual disability-global development delay-facial dysmorphism-sacral caudal remnant syndrome MONDO:0035863 Orphanet:480907 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0018823 X-linked intellectual disability-global development delay-facial dysmorphism-sacral caudal remnant syndrome MONDO:8000032 Orphanet:480907 Orphanet:377789 obsolete malformation syndrome +MONDO:0018824 pyoderma gangrenosum MONDO:0017370 Orphanet:48104 Orphanet:290842 obsolete autoinflammatory syndrome with skin involvement +MONDO:0018824 pyoderma gangrenosum MONDO:0017954 Orphanet:48104 Orphanet:324927 obsolete pyogenic autoinflammatory syndrome +MONDO:0018825 PYCR2-related microcephaly-progressive leukoencephalopathy MONDO:0017119 Orphanet:481152 Orphanet:269528 obsolete syndrome with microcephaly as major feature +MONDO:0018825 PYCR2-related microcephaly-progressive leukoencephalopathy MONDO:0035863 Orphanet:481152 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0018825 PYCR2-related microcephaly-progressive leukoencephalopathy MONDO:8000032 Orphanet:481152 Orphanet:377789 obsolete malformation syndrome +MONDO:0018826 Lewis-Sumner syndrome MONDO:8000031 Orphanet:48162 Orphanet:557494 obsolete subtype of a disorder +MONDO:0018827 familial chilblain lupus MONDO:0015939 Orphanet:481662 Orphanet:182228 obsolete systemic autoimmune disease +MONDO:0018827 familial chilblain lupus MONDO:0015948 Orphanet:481662 Orphanet:183478 obsolete rare genetic skin vascular disorder +MONDO:0018827 familial chilblain lupus MONDO:0018782 Orphanet:481662 Orphanet:477647 obsolete type 1 interferonopathy +MONDO:0018827 familial chilblain lupus MONDO:0018792 Orphanet:481662 Orphanet:477771 obsolete Moyamoya syndrome +MONDO:0018828 pseudo-TORCH syndrome 2 MONDO:0018782 Orphanet:481665 Orphanet:477647 obsolete type 1 interferonopathy +MONDO:0018828 pseudo-TORCH syndrome 2 MONDO:0019117 Orphanet:481665 Orphanet:71859 obsolete genetic nervous system disorder +MONDO:0018828 pseudo-TORCH syndrome 2 MONDO:0020009 Orphanet:481665 Orphanet:98006 obsolete rare neurologic disease +MONDO:0018829 familial schizencephaly MONDO:0018790 Orphanet:481986 Orphanet:477765 obsolete COL4A1 or COL4A2-related cerebral small vessel disease with hemorrhagic tendancy +MONDO:0018829 familial schizencephaly MONDO:8000031 Orphanet:481986 Orphanet:557494 obsolete subtype of a disorder +MONDO:0018831 obsolete HTRA1-related cerebral small vessel disease MONDO:0015547 Orphanet:482072 Orphanet:158124 hereditary dementia +MONDO:0018831 obsolete HTRA1-related cerebral small vessel disease MONDO:0018787 Orphanet:482072 Orphanet:477754 obsolete genetic cerebral small vessel disease +MONDO:0018831 obsolete HTRA1-related cerebral small vessel disease MONDO:0019515 Orphanet:482072 Orphanet:89043 obsolete rare dementia +MONDO:0018832 HTRA1-related autosomal dominant cerebral small vessel disease MONDO:0018831 Orphanet:482077 Orphanet:482072 obsolete HTRA1-related cerebral small vessel disease +MONDO:0018833 obsolete rare idiopathic macular telangiectasia MONDO:0019110 Orphanet:482092 Orphanet:71281 obsolete rare central nervous system or retinal vascular disease +MONDO:0018835 nodular regenerative hyperplasia of the liver MONDO:8000031 Orphanet:48372 Orphanet:557494 obsolete subtype of a disorder +MONDO:0018837 postinfectious vasculitis MONDO:0015144 Orphanet:48435 Orphanet:102005 obsolete brain inflammatory disease +MONDO:0018838 lissencephaly spectrum disorders MONDO:0015220 Orphanet:48471 Orphanet:108991 obsolete syndrome with a central nervous system malformation as major feature +MONDO:0018838 lissencephaly spectrum disorders MONDO:0015655 Orphanet:48471 Orphanet:166478 obsolete cerebral malformation with epilepsy +MONDO:0018838 lissencephaly spectrum disorders MONDO:0035863 Orphanet:48471 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0018839 acquired schizencephaly MONDO:8000031 Orphanet:485275 Orphanet:557494 obsolete subtype of a disorder +MONDO:0018840 isolated congenital hepatic fibrosis MONDO:0015114 Orphanet:485426 Orphanet:101939 obsolete rare parenchymal liver disease +MONDO:0018841 congenital bile acid synthesis defect MONDO:0015581 Orphanet:485631 Orphanet:163631 obsolete bile acid synthesis defect with cholestasis and malabsorption +MONDO:0018843 embryonal carcinoma of the central nervous system MONDO:0016738 Orphanet:48736 Orphanet:251995 obsolete primary germ cell tumor of central nervous system +MONDO:0018843 embryonal carcinoma of the central nervous system MONDO:8000031 Orphanet:48736 Orphanet:557494 obsolete subtype of a disorder +MONDO:0018844 urachal cyst MONDO:8000030 Orphanet:488 Orphanet:377791 obsolete morphological anomaly +MONDO:0018846 penile agenesis MONDO:0015933 Orphanet:49 Orphanet:182121 obsolete non-syndromic urogenital tract malformation of male +MONDO:0018846 penile agenesis MONDO:8000030 Orphanet:49 Orphanet:377791 obsolete morphological anomaly +MONDO:0018847 omphalomesenteric cyst MONDO:0015215 Orphanet:490 Orphanet:108977 obsolete non-syndromic diaphragmatic or abdominal wall malformation +MONDO:0018847 omphalomesenteric cyst MONDO:8000030 Orphanet:490 Orphanet:377791 obsolete morphological anomaly +MONDO:0018848 IgG4-related retroperitoneal fibrosis MONDO:0015621 Orphanet:49041 Orphanet:165711 obsolete rare abdominal surgical disease +MONDO:0018848 IgG4-related retroperitoneal fibrosis MONDO:8000031 Orphanet:49041 Orphanet:557494 obsolete subtype of a disorder +MONDO:0018849 dentinogenesis imperfecta MONDO:0015668 Orphanet:49042 Orphanet:167759 obsolete hereditary dentin defect +MONDO:0018850 proliferating trichilemmal cyst MONDO:0019300 Orphanet:492 Orphanet:79386 obsolete rare skin tumor or hamartoma +MONDO:0018851 familial keratoacanthoma MONDO:0015950 Orphanet:493 Orphanet:183487 obsolete inherited skin tumor +MONDO:0018851 familial keratoacanthoma MONDO:0019300 Orphanet:493 Orphanet:79386 obsolete rare skin tumor or hamartoma +MONDO:0018853 transgrediens et progrediens palmoplantar keratoderma MONDO:0020093 Orphanet:495 Orphanet:98349 obsolete autosomal dominant isolated diffuse palmoplantar keratoderma +MONDO:0018854 acquired purpura fulminans MONDO:0016634 Orphanet:49566 Orphanet:248365 obsolete thrombotic disorder due to an acquired coagulation factors defect +MONDO:0018855 keratosis pilaris atrophicans MONDO:0019274 Orphanet:498 Orphanet:79359 obsolete other epidermal disorder +MONDO:0018855 keratosis pilaris atrophicans MONDO:0019275 Orphanet:498 Orphanet:79360 obsolete other genetic epidermal disease +MONDO:0018858 Graham Little-Piccardi-Lassueur syndrome MONDO:0016767 Orphanet:505 Orphanet:254370 obsolete cutaneous lichen planus +MONDO:0018860 microlissencephaly-micromelia syndrome MONDO:0015655 Orphanet:50810 Orphanet:166478 obsolete cerebral malformation with epilepsy +MONDO:0018860 microlissencephaly-micromelia syndrome MONDO:0035863 Orphanet:50810 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0018860 microlissencephaly-micromelia syndrome MONDO:8000032 Orphanet:50810 Orphanet:377789 obsolete malformation syndrome +MONDO:0018861 Zellweger-like syndrome without peroxisomal anomalies MONDO:0016799 Orphanet:50812 Orphanet:254822 obsolete mitochondrial oxidative phosphorylation disorder with no known mechanism +MONDO:0018861 Zellweger-like syndrome without peroxisomal anomalies MONDO:0035862 Orphanet:50812 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome +MONDO:0018865 striate palmoplantar keratoderma MONDO:0017673 Orphanet:50942 Orphanet:307846 obsolete isolated focal palmoplantar keratoderma +MONDO:0018866 Aicardi-Goutieres syndrome MONDO:0015710 Orphanet:51 Orphanet:169361 obsolete immune dysregulation disease with immunodeficiency +MONDO:0018866 Aicardi-Goutieres syndrome MONDO:0018782 Orphanet:51 Orphanet:477647 obsolete type 1 interferonopathy +MONDO:0018866 Aicardi-Goutieres syndrome MONDO:0018792 Orphanet:51 Orphanet:477771 obsolete Moyamoya syndrome +MONDO:0018866 Aicardi-Goutieres syndrome MONDO:0035862 Orphanet:51 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome +MONDO:0018868 metachromatic leukodystrophy MONDO:0016133 Orphanet:512 Orphanet:207018 obsolete rare hereditary metabolic disease with peripheral neuropathy +MONDO:0018868 metachromatic leukodystrophy MONDO:0018299 Orphanet:512 Orphanet:371442 obsolete sphingolipidosis with epilepsy +MONDO:0018868 metachromatic leukodystrophy MONDO:0018609 Orphanet:512 Orphanet:441434 obsolete syndromic hereditary optic neuropathy +MONDO:0018868 metachromatic leukodystrophy MONDO:0019058 Orphanet:512 Orphanet:68385 obsolete neurometabolic disease +MONDO:0018868 metachromatic leukodystrophy MONDO:0020142 Orphanet:512 Orphanet:98543 obsolete metabolic disease with dementia +MONDO:0018870 arterial calcification of infancy MONDO:0016517 Orphanet:51608 Orphanet:233655 obsolete rare genetic vascular disease +MONDO:0018875 Li-Fraumeni syndrome MONDO:0016756 Orphanet:524 Orphanet:252190 obsolete inherited nervous system cancer-predisposing syndrome +MONDO:0018875 Li-Fraumeni syndrome MONDO:0017820 Orphanet:524 Orphanet:314749 obsolete obsolete disease with Cushing syndrome as a major feature +MONDO:0018878 branchiootic syndrome MONDO:0019589 Orphanet:52429 Orphanet:90642 obsolete syndromic genetic hearing loss +MONDO:0018878 branchiootic syndrome MONDO:0043008 Orphanet:52429 Orphanet:330206 obsolete genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability +MONDO:0018878 branchiootic syndrome MONDO:8000032 Orphanet:52429 Orphanet:377789 obsolete malformation syndrome +MONDO:0018879 lichen planopilaris MONDO:0016767 Orphanet:525 Orphanet:254370 obsolete cutaneous lichen planus +MONDO:0018880 obsolete rare teratologic disease MONDO:0019755 Orphanet:52662 Orphanet:93890 developmental defect during embryogenesis +MONDO:0018882 vasculitis MONDO:0019048 Orphanet:52759 Orphanet:68362 obsolete rare vascular disease +MONDO:0018882 vasculitis MONDO:0037860 Orphanet:52759 Orphanet:98023 obsolete rare systemic or rheumatologic disease +MONDO:0018883 Berardinelli-Seip congenital lipodystrophy MONDO:0015885 Orphanet:528 Orphanet:181368 obsolete rare insulin-resistance syndrome +MONDO:0018883 Berardinelli-Seip congenital lipodystrophy MONDO:0031689 Orphanet:528 Orphanet:363245 obsolete genetic progeroid syndrome +MONDO:0018883 Berardinelli-Seip congenital lipodystrophy MONDO:0035863 Orphanet:528 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0018884 Roch-Leri mesosomatous lipomatosis MONDO:0015949 Orphanet:529 Orphanet:183484 obsolete rare genetic subcutaneous tissue disorder +MONDO:0018885 orbital leiomyoma MONDO:0015121 Orphanet:52994 Orphanet:101950 obsolete rare eye tumor +MONDO:0018887 obsolete rare cutaneous lupus erythematosus MONDO:0017841 Orphanet:535 Orphanet:315350 obsolete autoimmune disease with skin involvement +MONDO:0018888 obsolete congenital cornea plana MONDO:0020145 Orphanet:53691 Orphanet:98553 obsolete developmental defect of the eye +MONDO:0018888 obsolete congenital cornea plana MONDO:0020209 Orphanet:53691 Orphanet:98621 obsolete rare hyperopia and astigmatism +MONDO:0018888 obsolete congenital cornea plana MONDO:0026186 Orphanet:53691 Orphanet:183557 obsolete genetic developmental defect of the eye +MONDO:0018888 obsolete congenital cornea plana MONDO:8000030 Orphanet:53691 Orphanet:377791 obsolete morphological anomaly +MONDO:0018890 Lyell syndrome MONDO:8000031 Orphanet:537 Orphanet:557494 obsolete subtype of a disorder +MONDO:0018891 familial tumoral calcinosis MONDO:0015936 Orphanet:53715 Orphanet:182130 obsolete rare tumor of endocrine glands +MONDO:0018891 familial tumoral calcinosis MONDO:0015950 Orphanet:53715 Orphanet:183487 obsolete inherited skin tumor +MONDO:0018891 familial tumoral calcinosis MONDO:0015970 Orphanet:53715 Orphanet:183634 obsolete rare genetic parathyroid disease and phosphocalcic metabolism disorder +MONDO:0018891 familial tumoral calcinosis MONDO:0019061 Orphanet:53715 Orphanet:68415 obsolete rare parathyroid disease and phosphocalcic metabolism anomaly +MONDO:0018891 familial tumoral calcinosis MONDO:0019300 Orphanet:53715 Orphanet:79386 obsolete rare skin tumor or hamartoma +MONDO:0018891 familial tumoral calcinosis MONDO:0800092 Orphanet:53715 Orphanet:498445 obsolete hereditary inflammatory or rheumatoid-like osteoarthropathy +MONDO:0018892 Wyburn-Mason syndrome MONDO:8000032 Orphanet:53719 Orphanet:377789 obsolete malformation syndrome +MONDO:0018893 Cobb syndrome MONDO:0015145 Orphanet:53721 Orphanet:102006 obsolete neurovascular malformation +MONDO:0018893 Cobb syndrome MONDO:0016234 Orphanet:53721 Orphanet:211266 obsolete rare arteriovenous malformation +MONDO:0018893 Cobb syndrome MONDO:8000032 Orphanet:53721 Orphanet:377789 obsolete malformation syndrome +MONDO:0018895 Plummer-Vinson syndrome MONDO:0015111 Orphanet:54028 Orphanet:101936 obsolete gastroesophageal disease +MONDO:0018896 thrombotic thrombocytopenic purpura MONDO:0016635 Orphanet:54057 Orphanet:248368 obsolete thrombotic disorder due to a platelet anomaly +MONDO:0018898 primary cutaneous lymphoma MONDO:0019300 Orphanet:542 Orphanet:79386 obsolete rare skin tumor or hamartoma +MONDO:0018899 posterior cortical atrophy MONDO:0015918 Orphanet:54247 Orphanet:182070 obsolete rare neurodegenerative disease +MONDO:0018899 posterior cortical atrophy MONDO:0019515 Orphanet:54247 Orphanet:89043 obsolete rare dementia +MONDO:0018900 corticosteroid-sensitive aseptic abscess syndrome MONDO:0019546 Orphanet:54251 Orphanet:90077 obsolete other acquired skin disease +MONDO:0018901 left ventricular noncompaction MONDO:0016343 Orphanet:54260 Orphanet:217678 obsolete unclassified cardiomyopathy +MONDO:0018901 left ventricular noncompaction MONDO:0018797 Orphanet:54260 Orphanet:477805 obsolete genetic cardiac malformation +MONDO:0018901 left ventricular noncompaction MONDO:0029810 Orphanet:54260 Orphanet:300755 obsolete laminopathy with striated muscle involvement +MONDO:0018902 hepatocellular adenoma MONDO:0017632 Orphanet:54272 Orphanet:306636 obsolete rare tumor of liver and intrahepatic biliary tract +MONDO:0018903 sarcocystosis MONDO:0015577 Orphanet:54368 Orphanet:163588 obsolete rare parasitic disease +MONDO:0018904 primary membranoproliferative glomerulonephritis MONDO:0026192 Orphanet:54370 Orphanet:183586 obsolete genetic glomerular disease +MONDO:0018907 craniopharyngioma MONDO:0019590 Orphanet:54595 Orphanet:90692 obsolete rare endocrine growth disease +MONDO:0018907 craniopharyngioma MONDO:0019833 Orphanet:54595 Orphanet:95503 obsolete pituitary hormone deficiency from tumoral origin +MONDO:0018907 craniopharyngioma MONDO:0020036 Orphanet:54595 Orphanet:98062 obsolete rare nervous system tumor +MONDO:0018910 oculocutaneous albinism MONDO:0020275 Orphanet:55 Orphanet:98706 obsolete oculocutaneous or ocular albinism +MONDO:0018911 maturity-onset diabetes of the young MONDO:0015887 Orphanet:552 Orphanet:181376 obsolete rare diabetes mellitus type 2 +MONDO:0018913 malakoplakia MONDO:0015245 Orphanet:556 Orphanet:117569 obsolete rare intestinal disease +MONDO:0018914 hypotrichosis simplex MONDO:0021034 Orphanet:55654 Orphanet:481771 obsolete hereditary alopecia +MONDO:0018916 obsolete isolated anorectal malformation MONDO:0019938 Orphanet:557 Orphanet:96346 anorectal malformation +MONDO:0018918 carcinoma of gallbladder and extrahepatic biliary tract MONDO:0017631 Orphanet:56044 Orphanet:306633 obsolete rare tumor of gallbladder and extrahepatic biliary tract +MONDO:0018919 McCune-Albright syndrome MONDO:0015945 Orphanet:562 Orphanet:183422 obsolete polymalformative genetic syndrome with increased risk of developing cancer +MONDO:0018919 McCune-Albright syndrome MONDO:0017820 Orphanet:562 Orphanet:314749 obsolete obsolete disease with Cushing syndrome as a major feature +MONDO:0018919 McCune-Albright syndrome MONDO:0033331 Orphanet:562 Orphanet:435564 obsolete genetic precocious puberty in female +MONDO:0018919 McCune-Albright syndrome MONDO:0035682 Orphanet:562 Orphanet:595216 obsolete fibrous dysplasia/McCune-Albright syndrome +MONDO:0018920 peripartum cardiomyopathy MONDO:0015582 Orphanet:563 Orphanet:163637 obsolete rare disorder related with pregnancy, childbirth and puerperium +MONDO:0018921 Meckel syndrome MONDO:0015214 Orphanet:564 Orphanet:108973 obsolete syndromic visceral malformation +MONDO:0018921 Meckel syndrome MONDO:0015335 Orphanet:564 Orphanet:139039 obsolete Mendelian syndromes with cleft lip/palate +MONDO:0018921 Meckel syndrome MONDO:0017120 Orphanet:564 Orphanet:269531 obsolete other syndrome with a central nervous system malformation as major feature +MONDO:0018921 Meckel syndrome MONDO:0017434 Orphanet:564 Orphanet:294959 obsolete syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy +MONDO:0018921 Meckel syndrome MONDO:0018731 Orphanet:564 Orphanet:459787 obsolete lethal multiple congenital anomalies/dysmorphic syndrome +MONDO:0018921 Meckel syndrome MONDO:0019721 Orphanet:564 Orphanet:93547 obsolete syndromic renal or urinary tract malformation +MONDO:0018921 Meckel syndrome MONDO:0020225 Orphanet:564 Orphanet:98641 obsolete syndromic cataract +MONDO:0018921 Meckel syndrome MONDO:0020237 Orphanet:564 Orphanet:98655 obsolete lens shape anomaly +MONDO:0018921 Meckel syndrome MONDO:0022409 Orphanet:564 Orphanet:156162 obsolete nephropathy-associated ciliopathy +MONDO:0018921 Meckel syndrome MONDO:8000032 Orphanet:564 Orphanet:377789 obsolete malformation syndrome +MONDO:0018923 22q11.2 deletion syndrome MONDO:0015246 Orphanet:567 Orphanet:117573 obsolete syndromic anorectal malformation +MONDO:0018923 22q11.2 deletion syndrome MONDO:0015334 Orphanet:567 Orphanet:139036 obsolete branchial arch or oral-acral syndrome +MONDO:0018923 22q11.2 deletion syndrome MONDO:0015506 Orphanet:567 Orphanet:156532 obsolete rare syndrome with cardiac malformations +MONDO:0018923 22q11.2 deletion syndrome MONDO:0015895 Orphanet:567 Orphanet:181402 obsolete syndrome with hypoparathyroidism +MONDO:0018923 22q11.2 deletion syndrome MONDO:0018036 Orphanet:567 Orphanet:331220 obsolete immunodeficiency due to absence of thymus +MONDO:0018923 22q11.2 deletion syndrome MONDO:0019589 Orphanet:567 Orphanet:90642 obsolete syndromic genetic hearing loss +MONDO:0018923 22q11.2 deletion syndrome MONDO:0019721 Orphanet:567 Orphanet:93547 obsolete syndromic renal or urinary tract malformation +MONDO:0018923 22q11.2 deletion syndrome MONDO:0020016 Orphanet:567 Orphanet:98033 obsolete rare neurologic disease with psychiatric involvement +MONDO:0018923 22q11.2 deletion syndrome MONDO:0024147 Orphanet:567 Orphanet:138047 obsolete Pierre Robin syndrome associated with a chromosomal anomaly +MONDO:0018923 22q11.2 deletion syndrome MONDO:0035863 Orphanet:567 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0018923 22q11.2 deletion syndrome MONDO:8000032 Orphanet:567 Orphanet:377789 obsolete malformation syndrome +MONDO:0018924 microphthalmia, Lenz type MONDO:0020237 Orphanet:568 Orphanet:98655 obsolete lens shape anomaly +MONDO:0018924 microphthalmia, Lenz type MONDO:0035863 Orphanet:568 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0018924 microphthalmia, Lenz type MONDO:8000032 Orphanet:568 Orphanet:377789 obsolete malformation syndrome +MONDO:0018925 familial or sporadic hemiplegic migraine MONDO:0015953 Orphanet:569 Orphanet:183503 obsolete genetic central nervous system and retinal vascular disease +MONDO:0018925 familial or sporadic hemiplegic migraine MONDO:0015954 Orphanet:569 Orphanet:183509 obsolete rare genetic headache disorder +MONDO:0018925 familial or sporadic hemiplegic migraine MONDO:0019110 Orphanet:569 Orphanet:71281 obsolete rare central nervous system or retinal vascular disease +MONDO:0018925 familial or sporadic hemiplegic migraine MONDO:0020011 Orphanet:569 Orphanet:98022 obsolete rare headache disorder +MONDO:0018926 human prion disease MONDO:0020136 Orphanet:56970 Orphanet:98534 obsolete neurodegenerative disease with dementia +MONDO:0018928 obsolete rare hepatic disease MONDO:8000033 Orphanet:57146 Orphanet:557492 obsolete group of disorders +MONDO:0018930 monosomy 21 MONDO:0020226 Orphanet:574 Orphanet:98642 obsolete chromosomal anomaly with cataract +MONDO:0018930 monosomy 21 MONDO:8000032 Orphanet:574 Orphanet:377789 obsolete malformation syndrome +MONDO:0018931 mucolipidosis type III, alpha/beta MONDO:8000031 Orphanet:423461 Orphanet:557494 obsolete subtype of a disorder +MONDO:0018932 cirrhotic cardiomyopathy MONDO:0015114 Orphanet:57777 Orphanet:101939 obsolete rare parenchymal liver disease +MONDO:0018933 Mazabraud syndrome MONDO:0019099 Orphanet:57782 Orphanet:71209 obsolete rare soft tissue tumor +MONDO:0018933 Mazabraud syndrome MONDO:0800089 Orphanet:57782 Orphanet:93450 obsolete primary bone dysplasia with disorganized development of skeletal components +MONDO:0018933 Mazabraud syndrome MONDO:8000032 Orphanet:57782 Orphanet:377789 obsolete malformation syndrome +MONDO:0018937 mucopolysaccharidosis type 3 MONDO:0016397 Orphanet:581 Orphanet:225681 obsolete lysosomal disease with epilepsy +MONDO:0018937 mucopolysaccharidosis type 3 MONDO:0019058 Orphanet:581 Orphanet:68385 obsolete neurometabolic disease +MONDO:0018937 mucopolysaccharidosis type 3 MONDO:0020228 Orphanet:581 Orphanet:98644 obsolete cataract associated with a metabolic disease +MONDO:0018937 mucopolysaccharidosis type 3 MONDO:0035862 Orphanet:581 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome +MONDO:0018939 muscle-eye-brain disease MONDO:0016157 Orphanet:588 Orphanet:207122 obsolete qualitative or quantitative defects of fukutin +MONDO:0018939 muscle-eye-brain disease MONDO:0016182 Orphanet:588 Orphanet:209024 obsolete qualitative or quantitative defects of protein O-mannose beta1, 2N-acetylglucosaminyltransferase +MONDO:0018939 muscle-eye-brain disease MONDO:0017745 Orphanet:588 Orphanet:309469 obsolete disorder of O-mannosylglycan synthesis +MONDO:0018939 muscle-eye-brain disease MONDO:0018132 Orphanet:588 Orphanet:352687 obsolete congenital muscular alpha-dystroglycanopathy with brain and eye anomalies +MONDO:0018939 muscle-eye-brain disease MONDO:0018287 Orphanet:588 Orphanet:371071 obsolete congenital disorder of glycosylation with epilepsy as a major feature +MONDO:0018939 muscle-eye-brain disease MONDO:0018296 Orphanet:588 Orphanet:371235 obsolete congenital disorder of glycosylation with developmental anomaly +MONDO:0018939 muscle-eye-brain disease MONDO:0020222 Orphanet:588 Orphanet:98638 obsolete rare disease with glaucoma as a major feature +MONDO:0018939 muscle-eye-brain disease MONDO:0020228 Orphanet:588 Orphanet:98644 obsolete cataract associated with a metabolic disease +MONDO:0018939 muscle-eye-brain disease MONDO:0020253 Orphanet:588 Orphanet:98683 obsolete syndrome with a symptomatic strabismus +MONDO:0018939 muscle-eye-brain disease MONDO:8000032 Orphanet:588 Orphanet:377789 obsolete malformation syndrome +MONDO:0018940 congenital myasthenic syndrome MONDO:0020169 Orphanet:590 Orphanet:98578 obsolete rare disorder with ptosis +MONDO:0018943 myofibrillar myopathy MONDO:0016110 Orphanet:593 Orphanet:206656 obsolete non-dystrophic myopathy +MONDO:0018944 gestational trophoblastic neoplasm MONDO:0016784 Orphanet:59305 Orphanet:254685 obsolete gestational trophoblastic disease +MONDO:0018945 McLeod neuroacanthocytosis syndrome MONDO:0016337 Orphanet:59306 Orphanet:217619 obsolete syndrome associated with dilated cardiomyopathy +MONDO:0018945 McLeod neuroacanthocytosis syndrome MONDO:0016406 Orphanet:59306 Orphanet:225713 obsolete other metabolic disease with epilepsy +MONDO:0018945 McLeod neuroacanthocytosis syndrome MONDO:0019058 Orphanet:59306 Orphanet:68385 obsolete neurometabolic disease +MONDO:0018945 McLeod neuroacanthocytosis syndrome MONDO:0020103 Orphanet:59306 Orphanet:98366 obsolete constitutional hemolytic anemia due to acanthocytosis +MONDO:0018946 rhombencephalosynapsis MONDO:0015915 Orphanet:59315 Orphanet:182061 obsolete cerebellar malformation +MONDO:0018946 rhombencephalosynapsis MONDO:8000032 Orphanet:59315 Orphanet:377789 obsolete malformation syndrome +MONDO:0018948 multiminicore myopathy MONDO:0015765 Orphanet:598 Orphanet:172976 obsolete congenital myopathy with cores +MONDO:0018948 multiminicore myopathy MONDO:0018753 Orphanet:598 Orphanet:466658 obsolete rare disease with malignant hyperthermia +MONDO:0018952 argyria MONDO:0035328 Orphanet:60014 Orphanet:556508 obsolete rare disorder due to poisoning +MONDO:0018953 parietal foramina MONDO:0019709 Orphanet:60015 Orphanet:93451 obsolete cleidocranial dysplasia and isolated cranial ossification defect +MONDO:0018953 parietal foramina MONDO:0020018 Orphanet:60015 Orphanet:98038 obsolete cranial malformation +MONDO:0018953 parietal foramina MONDO:0026182 Orphanet:60015 Orphanet:183542 obsolete genetic cranial malformation +MONDO:0018953 parietal foramina MONDO:8000032 Orphanet:60015 Orphanet:377789 obsolete malformation syndrome +MONDO:0018954 Loeys-Dietz syndrome MONDO:0017311 Orphanet:60030 Orphanet:285014 obsolete rare disease with thoracic aortic aneurysm and aortic dissection +MONDO:0018954 Loeys-Dietz syndrome MONDO:0800091 Orphanet:60030 Orphanet:498448 obsolete overgrowth or tall stature syndrome with skeletal involvement +MONDO:0018954 Loeys-Dietz syndrome MONDO:8000032 Orphanet:60030 Orphanet:377789 obsolete malformation syndrome +MONDO:0018955 recurrent respiratory papillomatosis MONDO:0015118 Orphanet:60032 Orphanet:101944 obsolete rare pulmonary disease +MONDO:0018955 recurrent respiratory papillomatosis MONDO:0020017 Orphanet:60032 Orphanet:98036 obsolete rare otorhinolaryngologic disease +MONDO:0018956 idiopathic bronchiectasis MONDO:0015118 Orphanet:60033 Orphanet:101944 obsolete rare pulmonary disease +MONDO:0018956 idiopathic bronchiectasis MONDO:0015510 Orphanet:60033 Orphanet:156610 obsolete rare genetic respiratory disease +MONDO:0018958 nemaline myopathy MONDO:0016110 Orphanet:607 Orphanet:206656 obsolete non-dystrophic myopathy +MONDO:0018960 congenital primary megaureter MONDO:0015934 Orphanet:617 Orphanet:182124 obsolete non-syndromic urogenital tract malformation of male and female +MONDO:0018960 congenital primary megaureter MONDO:0019720 Orphanet:617 Orphanet:93546 obsolete non-syndromic renal or urinary tract malformation +MONDO:0018960 congenital primary megaureter MONDO:8000030 Orphanet:617 Orphanet:377791 obsolete morphological anomaly +MONDO:0018961 familial melanoma MONDO:0015950 Orphanet:618 Orphanet:183487 obsolete inherited skin tumor +MONDO:0018961 familial melanoma MONDO:0019300 Orphanet:618 Orphanet:79386 obsolete rare skin tumor or hamartoma +MONDO:0018963 hereditary methemoglobinemia MONDO:0034039 Orphanet:621 Orphanet:466066 obsolete genetic hemoglobinopathy +MONDO:0018963 hereditary methemoglobinemia MONDO:0035862 Orphanet:621 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome +MONDO:0018964 homocystinuria without methylmalonic aciduria MONDO:0019058 Orphanet:622 Orphanet:68385 obsolete neurometabolic disease +MONDO:0018964 homocystinuria without methylmalonic aciduria MONDO:0020109 Orphanet:622 Orphanet:98396 obsolete constitutional megaloblastic anemia due to vitamin B12 metabolism disorder +MONDO:0018965 Alport syndrome MONDO:0019589 Orphanet:63 Orphanet:90642 obsolete syndromic genetic hearing loss +MONDO:0018965 Alport syndrome MONDO:0020230 Orphanet:63 Orphanet:98646 obsolete renal disease with cataract +MONDO:0018965 Alport syndrome MONDO:0020237 Orphanet:63 Orphanet:98655 obsolete lens shape anomaly +MONDO:0018968 iniencephaly MONDO:0017085 Orphanet:63259 Orphanet:268843 obsolete malformation of the neurenteric canal, spinal cord and column +MONDO:0018968 iniencephaly MONDO:8000030 Orphanet:63259 Orphanet:377791 obsolete morphological anomaly +MONDO:0018969 craniorachischisis MONDO:0017085 Orphanet:63260 Orphanet:268843 obsolete malformation of the neurenteric canal, spinal cord and column +MONDO:0018969 craniorachischisis MONDO:8000030 Orphanet:63260 Orphanet:377791 obsolete morphological anomaly +MONDO:0018972 obsolete rare epithelial tumor of stomach MONDO:0015881 Orphanet:63443 Orphanet:180821 obsolete gastroesophageal tumor +MONDO:0018975 neurofibromatosis type 1 MONDO:0015121 Orphanet:636 Orphanet:101950 obsolete rare eye tumor +MONDO:0018975 neurofibromatosis type 1 MONDO:0015512 Orphanet:636 Orphanet:156629 obsolete genetic hypertension +MONDO:0018975 neurofibromatosis type 1 MONDO:0015651 Orphanet:636 Orphanet:166466 obsolete neurocutaneous syndrome with epilepsy +MONDO:0018975 neurofibromatosis type 1 MONDO:0015950 Orphanet:636 Orphanet:183487 obsolete inherited skin tumor +MONDO:0018975 neurofibromatosis type 1 MONDO:0015966 Orphanet:636 Orphanet:183619 obsolete hereditary eye tumor +MONDO:0018975 neurofibromatosis type 1 MONDO:0018792 Orphanet:636 Orphanet:477771 obsolete Moyamoya syndrome +MONDO:0018975 neurofibromatosis type 1 MONDO:0019300 Orphanet:636 Orphanet:79386 obsolete rare skin tumor or hamartoma +MONDO:0018975 neurofibromatosis type 1 MONDO:0800089 Orphanet:636 Orphanet:93450 obsolete primary bone dysplasia with disorganized development of skeletal components +MONDO:0018976 schisis association MONDO:0017120 Orphanet:63862 Orphanet:269531 obsolete other syndrome with a central nervous system malformation as major feature +MONDO:0018976 schisis association MONDO:8000032 Orphanet:63862 Orphanet:377789 obsolete malformation syndrome +MONDO:0018977 polyneuropathy associated with IgM monoclonal gammapathy with anti-MAG MONDO:0015916 Orphanet:639 Orphanet:182064 obsolete rare neuroinflammatory or neuroimmunological disease +MONDO:0018977 polyneuropathy associated with IgM monoclonal gammapathy with anti-MAG MONDO:0016169 Orphanet:639 Orphanet:208974 obsolete chronic acquired demyelinating polyneuropathy +MONDO:0018977 polyneuropathy associated with IgM monoclonal gammapathy with anti-MAG MONDO:0016178 Orphanet:639 Orphanet:209010 obsolete peripheral neuropathy associated with monoclonal gammopathy +MONDO:0018978 IgG4-related mediastinitis MONDO:0020000 Orphanet:63999 Orphanet:97955 obsolete rare respiratory disease +MONDO:0018978 IgG4-related mediastinitis MONDO:8000031 Orphanet:63999 Orphanet:557494 obsolete subtype of a disorder +MONDO:0018979 multifocal motor neuropathy MONDO:0016169 Orphanet:641 Orphanet:208974 obsolete chronic acquired demyelinating polyneuropathy +MONDO:0018980 acrofacial dysostosis, Kennedy-Teebi type MONDO:0015334 Orphanet:64542 Orphanet:139036 obsolete branchial arch or oral-acral syndrome +MONDO:0018980 acrofacial dysostosis, Kennedy-Teebi type MONDO:0026189 Orphanet:64542 Orphanet:183576 obsolete genetic branchial arch or oral-acral syndrome +MONDO:0018980 acrofacial dysostosis, Kennedy-Teebi type MONDO:8000032 Orphanet:64542 Orphanet:377789 obsolete malformation syndrome +MONDO:0018982 Niemann-Pick disease type C MONDO:0015918 Orphanet:646 Orphanet:182070 obsolete rare neurodegenerative disease +MONDO:0018982 Niemann-Pick disease type C MONDO:0017037 Orphanet:646 Orphanet:264968 obsolete secondary interstitial lung disease in childhood and adulthood associated with a metabolic disease +MONDO:0018982 Niemann-Pick disease type C MONDO:0018299 Orphanet:646 Orphanet:371442 obsolete sphingolipidosis with epilepsy +MONDO:0018982 Niemann-Pick disease type C MONDO:0019058 Orphanet:646 Orphanet:68385 obsolete neurometabolic disease +MONDO:0018983 Tolosa-Hunt syndrome MONDO:0034965 Orphanet:64686 Orphanet:519349 obsolete rare ophthalmic disorder with cranial nerve involvement +MONDO:0018984 Oroya fever MONDO:0015575 Orphanet:64692 Orphanet:163582 obsolete rare bacterial infectious disease +MONDO:0018987 granulomatous mastitis MONDO:0015858 Orphanet:64722 Orphanet:180202 obsolete rare non-malformative breast disease +MONDO:0018988 iridocorneal endothelial syndrome MONDO:0020216 Orphanet:64734 Orphanet:98631 obsolete secondary dysgenetic glaucoma +MONDO:0018991 hepatoportal sclerosis MONDO:8000031 Orphanet:64743 Orphanet:557494 obsolete subtype of a disorder +MONDO:0018992 IgG4-related thyroid disease MONDO:0015777 Orphanet:64744 Orphanet:177101 obsolete adult hypothyroidism +MONDO:0018992 IgG4-related thyroid disease MONDO:8000031 Orphanet:64744 Orphanet:557494 obsolete subtype of a disorder +MONDO:0018993 Charcot-Marie-Tooth disease type 2 MONDO:0015360 Orphanet:64746 Orphanet:140456 obsolete autosomal dominant hereditary axonal motor and sensory neuropathy +MONDO:0018994 Charcot-Marie-Tooth disease type X MONDO:0019589 Orphanet:64747 Orphanet:90642 obsolete syndromic genetic hearing loss +MONDO:0018994 Charcot-Marie-Tooth disease type X MONDO:0035862 Orphanet:64747 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome +MONDO:0018995 Charcot-Marie-Tooth disease type 4 MONDO:0015361 Orphanet:64749 Orphanet:140459 obsolete autosomal recessive hereditary demyelinating motor and sensory neuropathy +MONDO:0018996 spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 MONDO:0020045 Orphanet:64753 Orphanet:98097 obsolete autosomal recessive cerebellar ataxia due to a DNA repair defect +MONDO:0018996 spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 MONDO:0034961 Orphanet:64753 Orphanet:519341 obsolete rare brainstem or cerebellar disorder with ophthalmic involvement as a major feature +MONDO:0018997 Noonan syndrome MONDO:0015906 Orphanet:648 Orphanet:181441 obsolete rare disorder with hypergonadotropic hypogonadism +MONDO:0018997 Noonan syndrome MONDO:0015945 Orphanet:648 Orphanet:183422 obsolete polymalformative genetic syndrome with increased risk of developing cancer +MONDO:0018997 Noonan syndrome MONDO:0018792 Orphanet:648 Orphanet:477771 obsolete Moyamoya syndrome +MONDO:0018997 Noonan syndrome MONDO:0019721 Orphanet:648 Orphanet:93547 obsolete syndromic renal or urinary tract malformation +MONDO:0018997 Noonan syndrome MONDO:0020167 Orphanet:648 Orphanet:98576 obsolete malposition of external canthus +MONDO:0018997 Noonan syndrome MONDO:0020169 Orphanet:648 Orphanet:98578 obsolete rare disorder with ptosis +MONDO:0018997 Noonan syndrome MONDO:0026989 Orphanet:648 Orphanet:217595 obsolete syndrome associated with hypertrophic cardiomyopathy +MONDO:0018997 Noonan syndrome MONDO:0035471 Orphanet:648 Orphanet:568047 obsolete disorder with multisystemic involvement and primary lymphedema +MONDO:0018997 Noonan syndrome MONDO:0035863 Orphanet:648 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0018997 Noonan syndrome MONDO:8000032 Orphanet:648 Orphanet:377789 obsolete malformation syndrome +MONDO:0018998 Leber congenital amaurosis MONDO:0020210 Orphanet:65 Orphanet:98622 obsolete syndromic hyperopia +MONDO:0018998 Leber congenital amaurosis MONDO:0020225 Orphanet:65 Orphanet:98641 obsolete syndromic cataract +MONDO:0018998 Leber congenital amaurosis MONDO:0022400 Orphanet:65 Orphanet:156174 obsolete retinal ciliopathy due to mutation in the RPGRIP gene +MONDO:0018998 Leber congenital amaurosis MONDO:0035862 Orphanet:65 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome +MONDO:0018999 LCAT deficiency MONDO:0019743 Orphanet:650 Orphanet:93593 obsolete nephropathy secondary to a storage or other metabolic disease +MONDO:0018999 LCAT deficiency MONDO:0020215 Orphanet:650 Orphanet:98628 obsolete syndromic corneal dystrophy +MONDO:0019000 perineural cyst MONDO:0020009 Orphanet:65250 Orphanet:98006 obsolete rare neurologic disease +MONDO:0019002 Lhermitte-Duclos disease MONDO:0017118 Orphanet:65285 Orphanet:269523 obsolete syndrome with a cerebellar malformation as major feature +MONDO:0019003 multiple endocrine neoplasia type 2 MONDO:0018538 Orphanet:653 Orphanet:425003 obsolete inherited digestive cancer-predisposing syndrome +MONDO:0019004 kidney Wilms tumor MONDO:0015963 Orphanet:654 Orphanet:183595 obsolete inherited renal tumor +MONDO:0019004 kidney Wilms tumor MONDO:0019749 Orphanet:654 Orphanet:93619 obsolete rare renal tumor +MONDO:0019005 nephronophthisis MONDO:0022405 Orphanet:655 Orphanet:156180 obsolete retinal ciliopathy due to mutation in nephronophthisis gene +MONDO:0019005 nephronophthisis MONDO:0022409 Orphanet:655 Orphanet:156162 obsolete nephropathy-associated ciliopathy +MONDO:0019007 vaginal atresia MONDO:0015847 Orphanet:65681 Orphanet:180151 obsolete rare vaginal malformation +MONDO:0019007 vaginal atresia MONDO:8000030 Orphanet:65681 Orphanet:377791 obsolete morphological anomaly +MONDO:0019011 Charcot-Marie-Tooth disease type 1 MONDO:0015359 Orphanet:65753 Orphanet:140453 obsolete autosomal dominant hereditary demyelinating motor and sensory neuropathy +MONDO:0019012 Carpenter syndrome MONDO:0016565 Orphanet:65759 Orphanet:240371 obsolete syndromic genetic obesity +MONDO:0019012 Carpenter syndrome MONDO:0035863 Orphanet:65759 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0019012 Carpenter syndrome MONDO:8000032 Orphanet:65759 Orphanet:377789 obsolete malformation syndrome +MONDO:0019013 non-histaminic angioedema MONDO:0020027 Orphanet:658 Orphanet:98050 obsolete rare allergic disease +MONDO:0019013 non-histaminic angioedema MONDO:0037860 Orphanet:658 Orphanet:98023 obsolete rare systemic or rheumatologic disease +MONDO:0019015 omphalocele MONDO:0015215 Orphanet:660 Orphanet:108977 obsolete non-syndromic diaphragmatic or abdominal wall malformation +MONDO:0019015 omphalocele MONDO:8000030 Orphanet:660 Orphanet:377791 obsolete morphological anomaly +MONDO:0019016 maternally-inherited progressive external ophthalmoplegia MONDO:0016792 Orphanet:663 Orphanet:254767 obsolete mitochondrial oxidative phosphorylation disorder due to a large-scale single deletion of mitochondrial DNA +MONDO:0019016 maternally-inherited progressive external ophthalmoplegia MONDO:0019058 Orphanet:663 Orphanet:68385 obsolete neurometabolic disease +MONDO:0019016 maternally-inherited progressive external ophthalmoplegia MONDO:0020169 Orphanet:663 Orphanet:98578 obsolete rare disorder with ptosis +MONDO:0019017 short fifth metacarpals-insulin resistance syndrome MONDO:0015885 Orphanet:66518 Orphanet:181368 obsolete rare insulin-resistance syndrome +MONDO:0019018 Tako-tsubo cardiomyopathy MONDO:0016343 Orphanet:66529 Orphanet:217678 obsolete unclassified cardiomyopathy +MONDO:0019019 osteogenesis imperfecta MONDO:0019704 Orphanet:666 Orphanet:93446 obsolete primary bone dysplasia with decreased bone density +MONDO:0019020 PANDAS MONDO:0017647 Orphanet:66624 Orphanet:306727 obsolete postinfectious autoimmune disease with chorea +MONDO:0019022 sensorineural hearing loss-early graying-essential tremor syndrome MONDO:0017644 Orphanet:66633 Orphanet:306712 obsolete rare tremor disorder +MONDO:0019022 sensorineural hearing loss-early graying-essential tremor syndrome MONDO:0017663 Orphanet:66633 Orphanet:307061 obsolete inherited tremor disorder +MONDO:0019022 sensorineural hearing loss-early graying-essential tremor syndrome MONDO:0019589 Orphanet:66633 Orphanet:90642 obsolete syndromic genetic hearing loss +MONDO:0019023 cutaneous mastocytosis MONDO:0019546 Orphanet:66646 Orphanet:90077 obsolete other acquired skin disease +MONDO:0019026 autosomal recessive osteopetrosis MONDO:8000032 Orphanet:667 Orphanet:377789 obsolete malformation syndrome +MONDO:0019028 amoebiasis due to Entamoeba histolytica MONDO:0015577 Orphanet:67 Orphanet:163588 obsolete rare parasitic disease +MONDO:0019029 segmental odontomaxillary dysplasia MONDO:0015603 Orphanet:67039 Orphanet:164001 obsolete rare odontal or periodontal disorder +MONDO:0019031 thrombocytopenia with congenital dyserythropoietic anemia MONDO:0016361 Orphanet:67044 Orphanet:220452 obsolete isolated hereditary giant platelet disorder +MONDO:0019032 X-linked intellectual disability with isolated growth hormone deficiency MONDO:0035862 Orphanet:67045 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome +MONDO:0019034 accessory pancreas MONDO:0015213 Orphanet:674 Orphanet:108971 obsolete non-syndromic visceral malformation +MONDO:0019034 accessory pancreas MONDO:8000030 Orphanet:674 Orphanet:377791 obsolete morphological anomaly +MONDO:0019035 pancreatoblastoma MONDO:0018520 Orphanet:677 Orphanet:424033 obsolete rare epithelial tumor of pancreas +MONDO:0019036 amoebiasis due to free-living amoebae MONDO:0015577 Orphanet:68 Orphanet:163588 obsolete rare parasitic disease +MONDO:0019037 progressive supranuclear palsy MONDO:0017643 Orphanet:683 Orphanet:306708 obsolete frontotemporal neurodegeneration with movement disorder +MONDO:0019037 progressive supranuclear palsy MONDO:0020137 Orphanet:683 Orphanet:98535 obsolete frontotemporal degeneration with dementia +MONDO:0019037 progressive supranuclear palsy MONDO:0028868 Orphanet:683 Orphanet:276061 obsolete genetic frontotemporal degeneration with dementia +MONDO:0019038 obsolete rare maxillo-facial surgical disease MONDO:8000033 Orphanet:68329 Orphanet:557492 obsolete group of disorders +MONDO:0019039 obsolete rare hemorrhagic disorder due to a constitutional coagulation factors defect MONDO:0016628 Orphanet:68334 Orphanet:248315 obsolete hemorrhagic disorder due to a coagulation factors defect +MONDO:0019039 obsolete rare hemorrhagic disorder due to a constitutional coagulation factors defect MONDO:0021181 Orphanet:68334 Orphanet:183654 inherited blood coagulation disorder +MONDO:0019040 chromosomal disorder MONDO:0021198 Orphanet:68335 Orphanet:98053 obsolete rare genetic disease +MONDO:0019041 obsolete rare genetic inherited tumor MONDO:0021198 Orphanet:68336 Orphanet:98053 obsolete rare genetic disease +MONDO:0019043 obsolete rare genetic skin disease MONDO:0021198 Orphanet:68346 Orphanet:98053 obsolete rare genetic disease +MONDO:0019044 obsolete tumor of hematopoietic and lymphoid tissues MONDO:0005570 Orphanet:68347 Orphanet:97992 hematologic disorder +MONDO:0019044 obsolete tumor of hematopoietic and lymphoid tissues MONDO:0020031 Orphanet:68347 Orphanet:98057 obsolete rare tumor +MONDO:0019045 obsolete rare sleep disorder MONDO:0020009 Orphanet:68354 Orphanet:98006 obsolete rare neurologic disease +MONDO:0019046 leukodystrophy MONDO:0019117 Orphanet:68356 Orphanet:71859 obsolete genetic nervous system disorder +MONDO:0019046 leukodystrophy MONDO:0020009 Orphanet:68356 Orphanet:98006 obsolete rare neurologic disease +MONDO:0019047 obsolete rare deafness MONDO:0020017 Orphanet:68361 Orphanet:98036 obsolete rare otorhinolaryngologic disease +MONDO:0019048 obsolete rare vascular disease MONDO:0020015 Orphanet:68362 Orphanet:98028 obsolete rare circulatory system disease +MONDO:0019049 obsolete rare dystonia MONDO:0044636 Orphanet:68363 Orphanet:494457 obsolete rare hyperkinetic movement disorder +MONDO:0019050 inherited hemoglobinopathy MONDO:0015223 Orphanet:68364 Orphanet:108997 obsolete rare anemia +MONDO:0019052 inborn errors of metabolism MONDO:0021198 Orphanet:68367 Orphanet:98053 obsolete rare genetic disease +MONDO:0019056 neuromuscular disease MONDO:0020009 Orphanet:68381 Orphanet:98006 obsolete rare neurologic disease +MONDO:0019058 obsolete neurometabolic disease MONDO:0019117 Orphanet:68385 Orphanet:71859 obsolete genetic nervous system disorder +MONDO:0019058 obsolete neurometabolic disease MONDO:0020009 Orphanet:68385 Orphanet:98006 obsolete rare neurologic disease +MONDO:0019059 obsolete rare parkinsonian disorder MONDO:0015143 Orphanet:68402 Orphanet:102003 obsolete rare movement disorder +MONDO:0019060 bone neoplasm MONDO:0019684 Orphanet:68411 Orphanet:93419 obsolete rare bone disease +MONDO:0019060 bone neoplasm MONDO:0020031 Orphanet:68411 Orphanet:98057 obsolete rare tumor +MONDO:0019061 obsolete rare parathyroid disease and phosphocalcic metabolism anomaly MONDO:0020005 Orphanet:68415 Orphanet:97978 obsolete rare endocrine disease +MONDO:0019062 obsolete rare infectious disease MONDO:8000033 Orphanet:68416 Orphanet:557492 obsolete group of disorders +MONDO:0019063 obsolete vascular anomaly MONDO:0019755 Orphanet:68419 Orphanet:93890 developmental defect during embryogenesis +MONDO:0019063 obsolete vascular anomaly MONDO:0020015 Orphanet:68419 Orphanet:98028 obsolete rare circulatory system disease +MONDO:0019064 hereditary spastic paraplegia MONDO:0015918 Orphanet:685 Orphanet:182070 obsolete rare neurodegenerative disease +MONDO:0019066 obsolete syndrome with brachydactyly MONDO:0015226 Orphanet:69028 Orphanet:109009 obsolete syndrome with limb malformations as a major feature +MONDO:0019066 obsolete syndrome with brachydactyly MONDO:0018235 Orphanet:69028 Orphanet:364568 obsolete dysostosis with limb anomaly as a major feature +MONDO:0019066 obsolete syndrome with brachydactyly MONDO:0018455 Orphanet:69028 Orphanet:404571 obsolete dysostosis of genetic origin with limb anomaly as a major feature +MONDO:0019067 idiopathic steroid-sensitive nephrotic syndrome MONDO:0032013 Orphanet:69061 Orphanet:377792 obsolete clinical syndrome +MONDO:0019071 pure hair and nail ectodermal dysplasia MONDO:8000032 Orphanet:69084 Orphanet:377789 obsolete malformation syndrome +MONDO:0019075 Bosley-Salih-Alorainy syndrome MONDO:0015506 Orphanet:69737 Orphanet:156532 obsolete rare syndrome with cardiac malformations +MONDO:0019075 Bosley-Salih-Alorainy syndrome MONDO:0019589 Orphanet:69737 Orphanet:90642 obsolete syndromic genetic hearing loss +MONDO:0019075 Bosley-Salih-Alorainy syndrome MONDO:0035863 Orphanet:69737 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0019075 Bosley-Salih-Alorainy syndrome MONDO:8000032 Orphanet:69737 Orphanet:377789 obsolete malformation syndrome +MONDO:0019076 circumscribed palmoplantar hypokeratosis MONDO:0019274 Orphanet:69744 Orphanet:79359 obsolete other epidermal disorder +MONDO:0019077 warty dyskeratoma MONDO:0019274 Orphanet:69745 Orphanet:79359 obsolete other epidermal disorder +MONDO:0019078 Ritscher-Schinzel syndrome MONDO:0017121 Orphanet:7 Orphanet:269546 obsolete syndrome with a Dandy-Walker malformation as major feature +MONDO:0019078 Ritscher-Schinzel syndrome MONDO:0035863 Orphanet:7 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0019078 Ritscher-Schinzel syndrome MONDO:8000032 Orphanet:7 Orphanet:377789 obsolete malformation syndrome +MONDO:0019084 radiation proctitis MONDO:0015245 Orphanet:70475 Orphanet:117569 obsolete rare intestinal disease +MONDO:0019085 vernal keratoconjunctivitis MONDO:0020211 Orphanet:70476 Orphanet:98623 obsolete syndromic keratoconus +MONDO:0019085 vernal keratoconjunctivitis MONDO:0034931 Orphanet:70476 Orphanet:519280 obsolete rare conjunctivitis +MONDO:0019086 carcinoma of esophagus MONDO:0015881 Orphanet:70482 Orphanet:180821 obsolete gastroesophageal tumor +MONDO:0019091 bronchopulmonary dysplasia MONDO:0015221 Orphanet:70589 Orphanet:108993 obsolete non-syndromic respiratory or mediastinal malformation +MONDO:0019091 bronchopulmonary dysplasia MONDO:0015930 Orphanet:70589 Orphanet:182111 obsolete respiratory malformation +MONDO:0019091 bronchopulmonary dysplasia MONDO:8000032 Orphanet:70589 Orphanet:377789 obsolete malformation syndrome +MONDO:0019092 infantile apnea MONDO:0015118 Orphanet:70590 Orphanet:101944 obsolete rare pulmonary disease +MONDO:0019093 immunodeficiency due to selective anti-polysaccharide antibody deficiency MONDO:0015711 Orphanet:70593 Orphanet:169443 obsolete specific antibody deficiency with normal immunoglobulin concentrations and normal numbers of B cells +MONDO:0019094 congenital Epstein-Barr virus infection MONDO:0015576 Orphanet:70596 Orphanet:163585 obsolete rare viral disease +MONDO:0019095 plague MONDO:0015575 Orphanet:707 Orphanet:163582 obsolete rare bacterial infectious disease +MONDO:0019096 obsolete rare pulmonary hypertension MONDO:0020000 Orphanet:71198 Orphanet:97955 obsolete rare respiratory disease +MONDO:0019097 obsolete hemorrhagic disorder due to a constitutional platelet anomaly MONDO:0016629 Orphanet:71202 Orphanet:248326 obsolete hemorrhagic disorder due to a platelet anomaly +MONDO:0019097 obsolete hemorrhagic disorder due to a constitutional platelet anomaly MONDO:0021181 Orphanet:71202 Orphanet:183654 inherited blood coagulation disorder +MONDO:0019098 autoimmune thrombocytopenia MONDO:0016631 Orphanet:71203 Orphanet:248347 obsolete hemorrhagic disorder due to an acquired platelet anomaly +MONDO:0019099 obsolete rare soft tissue tumor MONDO:0020031 Orphanet:71209 Orphanet:98057 obsolete rare tumor +MONDO:0019100 neuromyelitis optica MONDO:0016428 Orphanet:71211 Orphanet:228145 obsolete multiple sclerosis variant +MONDO:0019101 retinal capillary malformation MONDO:0015145 Orphanet:71213 Orphanet:102006 obsolete neurovascular malformation +MONDO:0019101 retinal capillary malformation MONDO:0016228 Orphanet:71213 Orphanet:211237 obsolete rare vascular tumor +MONDO:0019101 retinal capillary malformation MONDO:0018729 Orphanet:71213 Orphanet:459543 obsolete genetic vascular tumor +MONDO:0019101 retinal capillary malformation MONDO:0031949 Orphanet:71213 Orphanet:371436 obsolete genetic neurovascular malformation +MONDO:0019102 dentinogenesis imperfecta-short stature-hearing loss-intellectual disability syndrome MONDO:0015877 Orphanet:71267 Orphanet:180766 obsolete malformative syndrome with dentinogenesis imperfecta +MONDO:0019102 dentinogenesis imperfecta-short stature-hearing loss-intellectual disability syndrome MONDO:0019589 Orphanet:71267 Orphanet:90642 obsolete syndromic genetic hearing loss +MONDO:0019102 dentinogenesis imperfecta-short stature-hearing loss-intellectual disability syndrome MONDO:0026190 Orphanet:71267 Orphanet:183580 obsolete genetic malformation syndrome with odontal and/or periodontal component +MONDO:0019102 dentinogenesis imperfecta-short stature-hearing loss-intellectual disability syndrome MONDO:0035863 Orphanet:71267 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0019102 dentinogenesis imperfecta-short stature-hearing loss-intellectual disability syndrome MONDO:8000032 Orphanet:71267 Orphanet:377789 obsolete malformation syndrome +MONDO:0019104 Sandifer syndrome MONDO:0015111 Orphanet:71272 Orphanet:101936 obsolete gastroesophageal disease +MONDO:0019104 Sandifer syndrome MONDO:0017657 Orphanet:71272 Orphanet:306768 obsolete rare paroxysmal movement disorder +MONDO:0019105 renal nutcracker syndrome MONDO:0015621 Orphanet:71273 Orphanet:165711 obsolete rare abdominal surgical disease +MONDO:0019105 renal nutcracker syndrome MONDO:0019721 Orphanet:71273 Orphanet:93547 obsolete syndromic renal or urinary tract malformation +MONDO:0019108 silent sinus syndrome MONDO:0020017 Orphanet:71276 Orphanet:98036 obsolete rare otorhinolaryngologic disease +MONDO:0019109 CANOMAD syndrome MONDO:0015916 Orphanet:71279 Orphanet:182064 obsolete rare neuroinflammatory or neuroimmunological disease +MONDO:0019109 CANOMAD syndrome MONDO:0016169 Orphanet:71279 Orphanet:208974 obsolete chronic acquired demyelinating polyneuropathy +MONDO:0019109 CANOMAD syndrome MONDO:0016178 Orphanet:71279 Orphanet:209010 obsolete peripheral neuropathy associated with monoclonal gammopathy +MONDO:0019110 obsolete rare central nervous system or retinal vascular disease MONDO:0020009 Orphanet:71281 Orphanet:98006 obsolete rare neurologic disease +MONDO:0019111 familial thrombocytosis MONDO:0016636 Orphanet:71493 Orphanet:248401 obsolete thrombotic disorder due to a constitutional platelet anomaly +MONDO:0019114 psychogenic movement disorders MONDO:0015143 Orphanet:71519 Orphanet:102003 obsolete rare movement disorder +MONDO:0019114 psychogenic movement disorders MONDO:0032013 Orphanet:71519 Orphanet:377792 obsolete clinical syndrome +MONDO:0019115 obesity due to melanocortin 4 receptor deficiency MONDO:0015825 Orphanet:71529 Orphanet:179490 obsolete obesity due to congenital leptin resistance +MONDO:0019117 obsolete genetic nervous system disorder MONDO:0021198 Orphanet:71859 Orphanet:98053 obsolete rare genetic disease +MONDO:0019120 pili bifurcati MONDO:0019281 Orphanet:720 Orphanet:79366 obsolete isolated genetic hair shaft abnormality +MONDO:0019121 pneumocystosis MONDO:0015578 Orphanet:723 Orphanet:163591 obsolete rare mycosis +MONDO:0019124 microscopic polyangiitis MONDO:0016177 Orphanet:727 Orphanet:209007 obsolete systemic inflammatory disease associated with an acquired peripheral neuropathy +MONDO:0019125 relapsing polychondritis MONDO:0015939 Orphanet:728 Orphanet:182228 obsolete systemic autoimmune disease +MONDO:0019125 relapsing polychondritis MONDO:0020225 Orphanet:728 Orphanet:98641 obsolete syndromic cataract +MONDO:0019126 obsolete intractable diarrhea of infancy MONDO:0015245 Orphanet:73014 Orphanet:117569 obsolete rare intestinal disease +MONDO:0019128 mullerian aplasia MONDO:0015829 Orphanet:73217 Orphanet:180065 obsolete non-syndromic uterovaginal malformation +MONDO:0019128 mullerian aplasia MONDO:0015980 Orphanet:73217 Orphanet:183731 obsolete rare genetic gynecological and obstetrical diseases +MONDO:0019128 mullerian aplasia MONDO:0024987 Orphanet:73217 Orphanet:156622 obsolete genetic urogenital tract malformation +MONDO:0019129 global developmental delay-osteopenia-ectodermal defect syndrome MONDO:0035863 Orphanet:73223 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0019129 global developmental delay-osteopenia-ectodermal defect syndrome MONDO:8000032 Orphanet:73223 Orphanet:377789 obsolete malformation syndrome +MONDO:0019130 tubular renal disease-cardiomyopathy syndrome MONDO:0016337 Orphanet:73224 Orphanet:217619 obsolete syndrome associated with dilated cardiomyopathy +MONDO:0019130 tubular renal disease-cardiomyopathy syndrome MONDO:0019744 Orphanet:73224 Orphanet:93603 obsolete rare renal tubular disease +MONDO:0019131 ossification anomalies-psychomotor developmental delay syndrome MONDO:0019705 Orphanet:73230 Orphanet:93447 obsolete primary bone dysplasia with defective bone mineralization +MONDO:0019131 ossification anomalies-psychomotor developmental delay syndrome MONDO:0035863 Orphanet:73230 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0019132 spinal muscular atrophy-Dandy-Walker malformation-cataracts syndrome MONDO:0016131 Orphanet:73245 Orphanet:207012 obsolete spinal muscular atrophy associated with central nervous system anomaly +MONDO:0019132 spinal muscular atrophy-Dandy-Walker malformation-cataracts syndrome MONDO:0017121 Orphanet:73245 Orphanet:269546 obsolete syndrome with a Dandy-Walker malformation as major feature +MONDO:0019132 spinal muscular atrophy-Dandy-Walker malformation-cataracts syndrome MONDO:8000032 Orphanet:73245 Orphanet:377789 obsolete malformation syndrome +MONDO:0019133 visceral neuropathy-brain anomalies-facial dysmorphism-developmental delay syndrome MONDO:0020253 Orphanet:73246 Orphanet:98683 obsolete syndrome with a symptomatic strabismus +MONDO:0019133 visceral neuropathy-brain anomalies-facial dysmorphism-developmental delay syndrome MONDO:0035863 Orphanet:73246 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0019133 visceral neuropathy-brain anomalies-facial dysmorphism-developmental delay syndrome MONDO:8000032 Orphanet:73246 Orphanet:377789 obsolete malformation syndrome +MONDO:0019134 central neurocytoma MONDO:0016726 Orphanet:73256 Orphanet:251924 obsolete neuronal tumor +MONDO:0019136 Zygomycosis MONDO:0015578 Orphanet:73263 Orphanet:163591 obsolete rare mycosis +MONDO:0019137 non-24-hour sleep-wake syndrome MONDO:0019045 Orphanet:73267 Orphanet:68354 obsolete rare sleep disorder MONDO:0019138 obsolete bleeding diathesis due to a collagen receptor defect MONDO:0000001 Orphanet:73271 Orphanet:377788 disease +MONDO:0019138 obsolete bleeding diathesis due to a collagen receptor defect MONDO:0017142 Orphanet:73271 Orphanet:275736 obsolete hemorrhagic disorder due to a qualitative platelet defect +MONDO:0019140 acute ackee fruit intoxication MONDO:0035328 Orphanet:73423 Orphanet:556508 obsolete rare disorder due to poisoning +MONDO:0019141 porokeratosis of Mibelli MONDO:0026152 Orphanet:735 Orphanet:183444 obsolete genetic porokeratosis +MONDO:0019142 inherited porphyria MONDO:0019301 Orphanet:738 Orphanet:79387 obsolete metabolic disease with skin involvement +MONDO:0019142 inherited porphyria MONDO:0019304 Orphanet:738 Orphanet:79390 obsolete rare photodermatosis +MONDO:0019142 inherited porphyria MONDO:0019743 Orphanet:738 Orphanet:93593 obsolete nephropathy secondary to a storage or other metabolic disease +MONDO:0019143 angiostrongyliasis MONDO:0015577 Orphanet:74 Orphanet:163588 obsolete rare parasitic disease +MONDO:0019144 hereditary thrombophilia due to congenital protein S deficiency MONDO:0016320 Orphanet:743 Orphanet:217454 obsolete rare hereditary thrombophilia +MONDO:0019145 hereditary thrombophilia due to congenital protein C deficiency MONDO:0016320 Orphanet:745 Orphanet:217454 obsolete rare hereditary thrombophilia +MONDO:0019147 myiasis MONDO:0015577 Orphanet:75110 Orphanet:163588 obsolete rare parasitic disease +MONDO:0019148 Wolman disease MONDO:0015115 Orphanet:75233 Orphanet:101940 obsolete rare genetic metabolic liver disease +MONDO:0019148 Wolman disease MONDO:8000031 Orphanet:75233 Orphanet:557494 obsolete subtype of a disorder +MONDO:0019149 cholesteryl ester storage disease MONDO:0015115 Orphanet:75234 Orphanet:101940 obsolete rare genetic metabolic liver disease +MONDO:0019149 cholesteryl ester storage disease MONDO:8000031 Orphanet:75234 Orphanet:557494 obsolete subtype of a disorder MONDO:0019150 obsolete familial isolated restrictive cardiomyopathy MONDO:0000001 Orphanet:75249 Orphanet:377788 disease +MONDO:0019150 obsolete familial isolated restrictive cardiomyopathy MONDO:0016340 Orphanet:75249 Orphanet:217635 familial restrictive cardiomyopathy +MONDO:0019152 Oguchi disease MONDO:8000032 Orphanet:75382 Orphanet:377789 obsolete malformation syndrome +MONDO:0019153 brain malformation-congenital heart disease-postaxial polydactyly syndrome MONDO:0015506 Orphanet:75389 Orphanet:156532 obsolete rare syndrome with cardiac malformations +MONDO:0019153 brain malformation-congenital heart disease-postaxial polydactyly syndrome MONDO:0035863 Orphanet:75389 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0019153 brain malformation-congenital heart disease-postaxial polydactyly syndrome MONDO:8000032 Orphanet:75389 Orphanet:377789 obsolete malformation syndrome +MONDO:0019154 androgen insensitivity syndrome MONDO:0017969 Orphanet:754 Orphanet:325351 obsolete 46,XY disorder of sex development of endocrine origin +MONDO:0019154 androgen insensitivity syndrome MONDO:0017977 Orphanet:754 Orphanet:325632 obsolete 46,XY disorder of sex development of gynecological interest +MONDO:0019154 androgen insensitivity syndrome MONDO:0018388 Orphanet:754 Orphanet:399685 obsolete rare male infertility due to testicular endocrine disorder +MONDO:0019155 Leydig cell hypoplasia MONDO:0017970 Orphanet:755 Orphanet:325357 obsolete 46,XY disorder of sex development due to impaired androgen production +MONDO:0019155 Leydig cell hypoplasia MONDO:0018388 Orphanet:755 Orphanet:399685 obsolete rare male infertility due to testicular endocrine disorder +MONDO:0019156 angioosteohypotrophic syndrome MONDO:0016235 Orphanet:75508 Orphanet:211277 obsolete complex vascular malformation with associated anomalies +MONDO:0019156 angioosteohypotrophic syndrome MONDO:0016524 Orphanet:75508 Orphanet:235832 obsolete congenital vascular bone syndrome +MONDO:0019156 angioosteohypotrophic syndrome MONDO:8000032 Orphanet:75508 Orphanet:377789 obsolete malformation syndrome +MONDO:0019160 primary progressive freezing gait MONDO:0017635 Orphanet:75567 Orphanet:306666 obsolete parkinsonian syndrome due to neurodegenerative disease +MONDO:0019160 primary progressive freezing gait MONDO:0032013 Orphanet:75567 Orphanet:377792 obsolete clinical syndrome +MONDO:0019162 pseudohypoaldosteronism type 2 MONDO:0015512 Orphanet:757 Orphanet:156629 obsolete genetic hypertension +MONDO:0019164 6q terminal deletion syndrome MONDO:0015246 Orphanet:75857 Orphanet:117573 obsolete syndromic anorectal malformation +MONDO:0019164 6q terminal deletion syndrome MONDO:8000032 Orphanet:75857 Orphanet:377789 obsolete malformation syndrome +MONDO:0019167 immunoglobulin A vasculitis MONDO:0017022 Orphanet:761 Orphanet:264709 obsolete secondary interstitial lung disease specific to childhood associated with a systemic vasculitis +MONDO:0019168 pyomyositis MONDO:0015575 Orphanet:764 Orphanet:163582 obsolete rare bacterial infectious disease +MONDO:0019169 pyruvate dehydrogenase deficiency MONDO:0016402 Orphanet:765 Orphanet:225700 obsolete mitochondrial disease with epilepsy +MONDO:0019169 pyruvate dehydrogenase deficiency MONDO:0016403 Orphanet:765 Orphanet:225703 obsolete mitochondrial disease with peripheral neuropathy +MONDO:0019169 pyruvate dehydrogenase deficiency MONDO:0035862 Orphanet:765 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome +MONDO:0019170 polyarteritis nodosa MONDO:0015489 Orphanet:767 Orphanet:156143 obsolete predominantly medium-vessel vasculitis +MONDO:0019170 polyarteritis nodosa MONDO:0016177 Orphanet:767 Orphanet:209007 obsolete systemic inflammatory disease associated with an acquired peripheral neuropathy +MONDO:0019171 familial long QT syndrome MONDO:0015110 Orphanet:768 Orphanet:101934 obsolete genetic cardiac rhythm disease +MONDO:0019173 rabies MONDO:0015576 Orphanet:770 Orphanet:163585 obsolete rare viral disease MONDO:0019174 obsolete infantile Refsum disease MONDO:0000001 Orphanet:772 Orphanet:377788 disease +MONDO:0019174 obsolete infantile Refsum disease MONDO:0015327 Orphanet:772 Orphanet:139009 developmental anomaly of metabolic origin +MONDO:0019174 obsolete infantile Refsum disease MONDO:0016398 Orphanet:772 Orphanet:225686 obsolete peroxisomal disease with epilepsy +MONDO:0019174 obsolete infantile Refsum disease MONDO:0019234 Orphanet:772 Orphanet:79189 peroxisome biogenesis disorder +MONDO:0019174 obsolete infantile Refsum disease MONDO:0020044 Orphanet:772 Orphanet:98096 autosomal recessive metabolic cerebellar ataxia +MONDO:0019175 primary lymphedema MONDO:0016229 Orphanet:77240 Orphanet:211240 obsolete hereditary vascular anomaly +MONDO:0019175 primary lymphedema MONDO:0016233 Orphanet:77240 Orphanet:211255 obsolete rare lymphatic system malformation +MONDO:0019175 primary lymphedema MONDO:0019043 Orphanet:77240 Orphanet:68346 obsolete rare genetic skin disease +MONDO:0019175 primary lymphedema MONDO:0019519 Orphanet:77240 Orphanet:89826 obsolete rare skin disease +MONDO:0019176 obsolete trichorhinophalangeal syndrome type I or III MONDO:0017951 Orphanet:77258 Orphanet:324764 trichorhinophalangeal syndrome +MONDO:0019176 obsolete trichorhinophalangeal syndrome type I or III MONDO:8000032 Orphanet:77258 Orphanet:377789 obsolete malformation syndrome +MONDO:0019177 odontoleukodystrophy MONDO:0017333 Orphanet:77295 Orphanet:289494 obsolete hypomyelinating leukodystrophy with or without oligondontia and/or hypogonadism +MONDO:0019177 odontoleukodystrophy MONDO:8000031 Orphanet:77295 Orphanet:557494 obsolete subtype of a disorder +MONDO:0019178 auricular abnormalities-cleft lip with or without cleft palate-ocular abnormalities syndrome MONDO:0015335 Orphanet:77300 Orphanet:139039 obsolete Mendelian syndromes with cleft lip/palate +MONDO:0019178 auricular abnormalities-cleft lip with or without cleft palate-ocular abnormalities syndrome MONDO:0043008 Orphanet:77300 Orphanet:330206 obsolete genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability +MONDO:0019178 auricular abnormalities-cleft lip with or without cleft palate-ocular abnormalities syndrome MONDO:8000032 Orphanet:77300 Orphanet:377789 obsolete malformation syndrome +MONDO:0019179 monosomy 9q22.3 MONDO:0020253 Orphanet:77301 Orphanet:98683 obsolete syndrome with a symptomatic strabismus +MONDO:0019179 monosomy 9q22.3 MONDO:8000032 Orphanet:77301 Orphanet:377789 obsolete malformation syndrome +MONDO:0019180 hereditary hemorrhagic telangiectasia MONDO:0015113 Orphanet:774 Orphanet:101938 obsolete rare vascular liver disease +MONDO:0019180 hereditary hemorrhagic telangiectasia MONDO:0015145 Orphanet:774 Orphanet:102006 obsolete neurovascular malformation +MONDO:0019180 hereditary hemorrhagic telangiectasia MONDO:0015331 Orphanet:774 Orphanet:139027 obsolete malformation syndrome with skin/mucosae involvement +MONDO:0019180 hereditary hemorrhagic telangiectasia MONDO:0015930 Orphanet:774 Orphanet:182111 obsolete respiratory malformation +MONDO:0019180 hereditary hemorrhagic telangiectasia MONDO:0015948 Orphanet:774 Orphanet:183478 obsolete rare genetic skin vascular disorder +MONDO:0019180 hereditary hemorrhagic telangiectasia MONDO:0018728 Orphanet:774 Orphanet:459526 obsolete rare genetic capillary malformation +MONDO:0019180 hereditary hemorrhagic telangiectasia MONDO:0020063 Orphanet:774 Orphanet:98196 obsolete malformation syndrome with hamartosis +MONDO:0019180 hereditary hemorrhagic telangiectasia MONDO:0020198 Orphanet:774 Orphanet:98610 obsolete rare conjunctival disease +MONDO:0019180 hereditary hemorrhagic telangiectasia MONDO:0026203 Orphanet:774 Orphanet:183622 obsolete genetic respiratory malformation +MONDO:0019180 hereditary hemorrhagic telangiectasia MONDO:0031949 Orphanet:774 Orphanet:371436 obsolete genetic neurovascular malformation +MONDO:0019181 non-syndromic X-linked intellectual disability MONDO:0015108 Orphanet:777 Orphanet:101685 obsolete rare non-syndromic intellectual disability +MONDO:0019181 non-syndromic X-linked intellectual disability MONDO:8000031 Orphanet:777 Orphanet:557494 obsolete subtype of a disorder +MONDO:0019182 inherited obesity MONDO:0015513 Orphanet:77828 Orphanet:156638 obsolete rare genetic endocrine disease +MONDO:0019182 inherited obesity MONDO:0020005 Orphanet:77828 Orphanet:97978 obsolete rare endocrine disease +MONDO:0019182 inherited obesity MONDO:0026188 Orphanet:77828 Orphanet:183573 obsolete genetic overgrowth/obesity syndrome +MONDO:0019183 obsolete inherited odontologic disease MONDO:0021198 Orphanet:77830 Orphanet:98053 obsolete rare genetic disease +MONDO:0019186 Q fever MONDO:0015575 Orphanet:781 Orphanet:163582 obsolete rare bacterial infectious disease +MONDO:0019187 Axenfeld-Rieger syndrome MONDO:0015246 Orphanet:782 Orphanet:117573 obsolete syndromic anorectal malformation +MONDO:0019187 Axenfeld-Rieger syndrome MONDO:0019827 Orphanet:782 Orphanet:95495 obsolete disease associated with non-acquired combined pituitary hormone deficiency +MONDO:0019187 Axenfeld-Rieger syndrome MONDO:0020222 Orphanet:782 Orphanet:98638 obsolete rare disease with glaucoma as a major feature +MONDO:0019187 Axenfeld-Rieger syndrome MONDO:0043008 Orphanet:782 Orphanet:330206 obsolete genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability +MONDO:0019187 Axenfeld-Rieger syndrome MONDO:8000032 Orphanet:782 Orphanet:377789 obsolete malformation syndrome +MONDO:0019188 Rubinstein-Taybi syndrome MONDO:0015329 Orphanet:783 Orphanet:139021 obsolete malformation syndrome with short stature +MONDO:0019188 Rubinstein-Taybi syndrome MONDO:0015945 Orphanet:783 Orphanet:183422 obsolete polymalformative genetic syndrome with increased risk of developing cancer +MONDO:0019188 Rubinstein-Taybi syndrome MONDO:0016565 Orphanet:783 Orphanet:240371 obsolete syndromic genetic obesity +MONDO:0019188 Rubinstein-Taybi syndrome MONDO:0016756 Orphanet:783 Orphanet:252190 obsolete inherited nervous system cancer-predisposing syndrome +MONDO:0019188 Rubinstein-Taybi syndrome MONDO:0019721 Orphanet:783 Orphanet:93547 obsolete syndromic renal or urinary tract malformation +MONDO:0019188 Rubinstein-Taybi syndrome MONDO:0020222 Orphanet:783 Orphanet:98638 obsolete rare disease with glaucoma as a major feature +MONDO:0019188 Rubinstein-Taybi syndrome MONDO:0020237 Orphanet:783 Orphanet:98655 obsolete lens shape anomaly +MONDO:0019188 Rubinstein-Taybi syndrome MONDO:0026187 Orphanet:783 Orphanet:183570 obsolete genetic malformation syndrome with short stature +MONDO:0019188 Rubinstein-Taybi syndrome MONDO:0035863 Orphanet:783 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0019188 Rubinstein-Taybi syndrome MONDO:0800094 Orphanet:783 Orphanet:498454 obsolete dysostosis with brachydactyly with extraskeletal manifestations +MONDO:0019188 Rubinstein-Taybi syndrome MONDO:8000032 Orphanet:783 Orphanet:377789 obsolete malformation syndrome +MONDO:0019190 juvenile polyposis of infancy MONDO:8000031 Orphanet:79076 Orphanet:557494 obsolete subtype of a disorder +MONDO:0019191 IgG4-related dacryoadenitis and sialadenitis MONDO:0020017 Orphanet:79078 Orphanet:98036 obsolete rare otorhinolaryngologic disease +MONDO:0019191 IgG4-related dacryoadenitis and sialadenitis MONDO:0034923 Orphanet:79078 Orphanet:519264 obsolete inflammatory/autoimmune disorder involving the lacrimal system +MONDO:0019191 IgG4-related dacryoadenitis and sialadenitis MONDO:8000031 Orphanet:79078 Orphanet:557494 obsolete subtype of a disorder +MONDO:0019193 acquired generalized lipodystrophy MONDO:0015885 Orphanet:79086 Orphanet:181368 obsolete rare insulin-resistance syndrome +MONDO:0019196 Foix-Alajouanine syndrome MONDO:0015145 Orphanet:79093 Orphanet:102006 obsolete neurovascular malformation +MONDO:0019196 Foix-Alajouanine syndrome MONDO:0016234 Orphanet:79093 Orphanet:211266 obsolete rare arteriovenous malformation +MONDO:0019196 Foix-Alajouanine syndrome MONDO:8000032 Orphanet:79093 Orphanet:377789 obsolete malformation syndrome +MONDO:0019197 folinic acid-responsive seizures MONDO:0019058 Orphanet:79097 Orphanet:68385 obsolete neurometabolic disease +MONDO:0019199 interstitial granulomatous dermatitis with arthritis MONDO:0015940 Orphanet:79099 Orphanet:182231 obsolete rare rheumatologic disease +MONDO:0019199 interstitial granulomatous dermatitis with arthritis MONDO:0019546 Orphanet:79099 Orphanet:90077 obsolete other acquired skin disease +MONDO:0019200 retinitis pigmentosa MONDO:0022397 Orphanet:791 Orphanet:156168 obsolete retinal ciliopathy due to mutation in the retinitis pigmentosa-1 gene +MONDO:0019200 retinitis pigmentosa MONDO:0022399 Orphanet:791 Orphanet:156171 obsolete retinal ciliopathy due to mutation in the RPGR gene +MONDO:0019200 retinitis pigmentosa MONDO:0035862 Orphanet:791 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome +MONDO:0019202 myxofibrosarcoma MONDO:0016123 Orphanet:79105 Orphanet:206982 obsolete muscular tumor +MONDO:0019205 trichodysplasia-amelogenesis imperfecta syndrome MONDO:0015336 Orphanet:79129 Orphanet:139042 obsolete malformation syndrome with odontal and/or periodontal component +MONDO:0019205 trichodysplasia-amelogenesis imperfecta syndrome MONDO:0026190 Orphanet:79129 Orphanet:183580 obsolete genetic malformation syndrome with odontal and/or periodontal component +MONDO:0019205 trichodysplasia-amelogenesis imperfecta syndrome MONDO:8000032 Orphanet:79129 Orphanet:377789 obsolete malformation syndrome +MONDO:0019208 Bickerstaff brainstem encephalitis MONDO:0016494 Orphanet:79138 Orphanet:231416 obsolete regional variant of Guillain-Barre syndrome +MONDO:0019209 Japanese encephalitis MONDO:0015659 Orphanet:79139 Orphanet:166490 obsolete infectious disease with epilepsy +MONDO:0019210 cutaneous neuroendocrine carcinoma MONDO:0015081 Orphanet:79140 Orphanet:100101 obsolete neuroendocrine tumor with other location +MONDO:0019210 cutaneous neuroendocrine carcinoma MONDO:0019300 Orphanet:79140 Orphanet:79386 obsolete rare skin tumor or hamartoma +MONDO:0019211 isolated congenital anonychia MONDO:0015331 Orphanet:79143 Orphanet:139027 obsolete malformation syndrome with skin/mucosae involvement +MONDO:0019212 disseminated superficial actinic porokeratosis MONDO:0026152 Orphanet:79152 Orphanet:183444 obsolete genetic porokeratosis +MONDO:0019213 obsolete cerebral organic aciduria MONDO:0000688 Orphanet:79158 Orphanet:289899 inborn organic aciduria +MONDO:0019224 obsolete inborn disorder of gamma-aminobutyric acid metabolism MONDO:0019250 Orphanet:79175 Orphanet:79214 inborn disorder of biogenic amine metabolism and transport +MONDO:0019227 obsolete inborn disorder of glycerol metabolism MONDO:0019214 Orphanet:79179 Orphanet:79161 inborn carbohydrate metabolic disorder +MONDO:0019233 disorder of peroxisomal beta oxidation MONDO:0017753 Orphanet:79188 Orphanet:309810 obsolete disorder of peroxisomal alpha-, beta- and omega-oxidation +MONDO:0019234 peroxisome biogenesis disorder MONDO:0015115 Orphanet:79189 Orphanet:101940 obsolete rare genetic metabolic liver disease +MONDO:0019234 peroxisome biogenesis disorder MONDO:0016133 Orphanet:79189 Orphanet:207018 obsolete rare hereditary metabolic disease with peripheral neuropathy +MONDO:0019234 peroxisome biogenesis disorder MONDO:0019058 Orphanet:79189 Orphanet:68385 obsolete neurometabolic disease +MONDO:0019234 peroxisome biogenesis disorder MONDO:0020240 Orphanet:79189 Orphanet:98661 obsolete syndromic retinitis pigmentosa +MONDO:0019249 mucopolysaccharidosis MONDO:0020222 Orphanet:79213 Orphanet:98638 obsolete rare disease with glaucoma as a major feature +MONDO:0019252 obsolete other metabolic disease with skin involvement MONDO:0019301 Orphanet:79217 Orphanet:79387 obsolete metabolic disease with skin involvement +MONDO:0019253 metabolic disease involving other neurotransmitter deficiency MONDO:0016404 Orphanet:79219 Orphanet:225707 obsolete metabolic neurotransmission anomaly with epilepsy +MONDO:0019258 mild phenylketonuria MONDO:8000031 Orphanet:79253 Orphanet:557494 obsolete subtype of a disorder +MONDO:0019259 classic phenylketonuria MONDO:8000031 Orphanet:79254 Orphanet:557494 obsolete subtype of a disorder +MONDO:0019260 adult neuronal ceroid lipofuscinosis MONDO:0034953 Orphanet:79262 Orphanet:519325 obsolete syndromic inherited retinal disorder +MONDO:0019261 infantile neuronal ceroid lipofuscinosis MONDO:0034953 Orphanet:79263 Orphanet:519325 obsolete syndromic inherited retinal disorder +MONDO:0019262 juvenile neuronal ceroid lipofuscinosis MONDO:0034953 Orphanet:79264 Orphanet:519325 obsolete syndromic inherited retinal disorder +MONDO:0019263 autosomal erythropoietic protoporphyria MONDO:0015115 Orphanet:79278 Orphanet:101940 obsolete rare genetic metabolic liver disease +MONDO:0019264 alpha-N-acetylgalactosaminidase deficiency type 3 MONDO:0020228 Orphanet:79281 Orphanet:98644 obsolete cataract associated with a metabolic disease +MONDO:0019264 alpha-N-acetylgalactosaminidase deficiency type 3 MONDO:0020253 Orphanet:79281 Orphanet:98683 obsolete syndrome with a symptomatic strabismus +MONDO:0019264 alpha-N-acetylgalactosaminidase deficiency type 3 MONDO:8000031 Orphanet:79281 Orphanet:557494 obsolete subtype of a disorder +MONDO:0019267 vitamin B12-unresponsive methylmalonic acidemia type mut- MONDO:8000031 Orphanet:79312 Orphanet:557494 obsolete subtype of a disorder +MONDO:0019268 epidermal disease MONDO:0019519 Orphanet:79353 Orphanet:89826 obsolete rare skin disease +MONDO:0019271 obsolete acrokeratoderma MONDO:0019268 Orphanet:79356 Orphanet:79353 epidermal disease +MONDO:0019272 hereditary palmoplantar keratoderma MONDO:0015946 Orphanet:79357 Orphanet:183426 obsolete rare genetic epidermal disorder +MONDO:0019274 obsolete other epidermal disorder MONDO:0019268 Orphanet:79359 Orphanet:79353 epidermal disease +MONDO:0019275 obsolete other genetic epidermal disease MONDO:0015946 Orphanet:79360 Orphanet:183426 obsolete rare genetic epidermal disorder +MONDO:0019276 inherited epidermolysis bullosa MONDO:0015946 Orphanet:79361 Orphanet:183426 obsolete rare genetic epidermal disorder +MONDO:0019277 obsolete epidermal appendage anomaly MONDO:0019519 Orphanet:79362 Orphanet:89826 obsolete rare skin disease +MONDO:0019278 hair anomaly MONDO:0019277 Orphanet:79363 Orphanet:79362 obsolete epidermal appendage anomaly +MONDO:0019280 hypertrichosis MONDO:0021027 Orphanet:79365 Orphanet:183450 obsolete genetic hair anomaly +MONDO:0019281 obsolete isolated genetic hair shaft abnormality MONDO:0019278 Orphanet:79366 Orphanet:79363 hair anomaly +MONDO:0019281 obsolete isolated genetic hair shaft abnormality MONDO:0021027 Orphanet:79366 Orphanet:183450 obsolete genetic hair anomaly +MONDO:0019282 obsolete syndromic hair shaft abnormality MONDO:0019278 Orphanet:79367 Orphanet:79363 hair anomaly +MONDO:0019282 obsolete syndromic hair shaft abnormality MONDO:0021027 Orphanet:79367 Orphanet:183450 obsolete genetic hair anomaly +MONDO:0019283 nail anomaly MONDO:0019277 Orphanet:79368 Orphanet:79362 obsolete epidermal appendage anomaly +MONDO:0019284 inherited isolated nail anomaly MONDO:0021028 Orphanet:79369 Orphanet:183454 obsolete genetic nail anomaly +MONDO:0019285 obsolete syndromic nail anomaly MONDO:0019283 Orphanet:79370 Orphanet:79368 nail anomaly +MONDO:0019285 obsolete syndromic nail anomaly MONDO:0021028 Orphanet:79370 Orphanet:183454 obsolete genetic nail anomaly +MONDO:0019286 obsolete sebaceous gland anomaly MONDO:0019277 Orphanet:79372 Orphanet:79362 obsolete epidermal appendage anomaly +MONDO:0019287 ectodermal dysplasia syndrome MONDO:0015331 Orphanet:79373 Orphanet:139027 obsolete malformation syndrome with skin/mucosae involvement +MONDO:0019287 ectodermal dysplasia syndrome MONDO:0019277 Orphanet:79373 Orphanet:79362 obsolete epidermal appendage anomaly +MONDO:0019288 skin pigmentation disorder MONDO:0019519 Orphanet:79374 Orphanet:89826 obsolete rare skin disease +MONDO:0019291 obsolete rare genetic dermis disorder MONDO:0019519 Orphanet:79377 Orphanet:89826 obsolete rare skin disease +MONDO:0019292 obsolete dermis elastic tissue disorder MONDO:0019291 Orphanet:79378 Orphanet:79377 obsolete rare genetic dermis disorder +MONDO:0019293 skin vascular disease MONDO:0019291 Orphanet:79379 Orphanet:79377 obsolete rare genetic dermis disorder +MONDO:0019294 mixed dermis disorder MONDO:0019291 Orphanet:79380 Orphanet:79377 obsolete rare genetic dermis disorder +MONDO:0019296 subcutaneous tissue disorder MONDO:0019519 Orphanet:79382 Orphanet:89826 obsolete rare skin disease +MONDO:0019298 obsolete rare urticaria MONDO:0019519 Orphanet:79384 Orphanet:89826 obsolete rare skin disease +MONDO:0019298 obsolete rare urticaria MONDO:0020027 Orphanet:79384 Orphanet:98050 obsolete rare allergic disease +MONDO:0019299 obsolete unclassified genetic skin disorder MONDO:0019043 Orphanet:79385 Orphanet:68346 obsolete rare genetic skin disease +MONDO:0019299 obsolete unclassified genetic skin disorder MONDO:0019519 Orphanet:79385 Orphanet:89826 obsolete rare skin disease +MONDO:0019300 obsolete rare skin tumor or hamartoma MONDO:0019519 Orphanet:79386 Orphanet:89826 obsolete rare skin disease +MONDO:0019300 obsolete rare skin tumor or hamartoma MONDO:0020031 Orphanet:79386 Orphanet:98057 obsolete rare tumor +MONDO:0019301 obsolete metabolic disease with skin involvement MONDO:0019043 Orphanet:79387 Orphanet:68346 obsolete rare genetic skin disease +MONDO:0019301 obsolete metabolic disease with skin involvement MONDO:0019519 Orphanet:79387 Orphanet:89826 obsolete rare skin disease +MONDO:0019303 premature aging syndrome MONDO:0019043 Orphanet:79389 Orphanet:68346 obsolete rare genetic skin disease +MONDO:0019303 premature aging syndrome MONDO:0019519 Orphanet:79389 Orphanet:89826 obsolete rare skin disease +MONDO:0019304 obsolete rare photodermatosis MONDO:0019519 Orphanet:79390 Orphanet:89826 obsolete rare skin disease +MONDO:0019305 obsolete immune deficiency with skin involvement MONDO:0019519 Orphanet:79391 Orphanet:89826 obsolete rare skin disease +MONDO:0019307 generalized junctional epidermolysis bullosa non-Herlitz type MONDO:0020014 Orphanet:79402 Orphanet:98027 obsolete rare disease with odontological manifestation +MONDO:0019308 junctional epidermolysis bullosa inversa MONDO:0020014 Orphanet:79405 Orphanet:98027 obsolete rare disease with odontological manifestation +MONDO:0019309 late-onset junctional epidermolysis bullosa MONDO:0020014 Orphanet:79406 Orphanet:98027 obsolete rare disease with odontological manifestation +MONDO:0019311 wooly hair nevus MONDO:0019281 Orphanet:79414 Orphanet:79366 obsolete isolated genetic hair shaft abnormality +MONDO:0019312 Hermansky-Pudlak syndrome MONDO:0020118 Orphanet:79430 Orphanet:98456 obsolete dense granule disease +MONDO:0019318 inflammatory linear verrucous epidermal nevus MONDO:8000031 Orphanet:79466 Orphanet:557494 obsolete subtype of a disorder +MONDO:0019319 verrucous nevus MONDO:8000031 Orphanet:79467 Orphanet:557494 obsolete subtype of a disorder +MONDO:0019320 acanthokeratolytic verrucous nevus MONDO:8000031 Orphanet:79468 Orphanet:557494 obsolete subtype of a disorder +MONDO:0019321 atypical Werner syndrome MONDO:0029813 Orphanet:79474 Orphanet:300766 obsolete laminopathy with premature aging +MONDO:0019321 atypical Werner syndrome MONDO:0031689 Orphanet:79474 Orphanet:363245 obsolete genetic progeroid syndrome +MONDO:0019323 pemphigus erythematosus MONDO:0018745 Orphanet:79480 Orphanet:46485 obsolete superficial pemphigus +MONDO:0019324 pemphigus foliaceus MONDO:0018745 Orphanet:79481 Orphanet:46485 obsolete superficial pemphigus +MONDO:0019325 phakomatosis cesioflammea MONDO:8000031 Orphanet:79483 Orphanet:557494 obsolete subtype of a disorder +MONDO:0019326 phakomatosis cesiomarmorata MONDO:8000031 Orphanet:79484 Orphanet:557494 obsolete subtype of a disorder +MONDO:0019327 phakomatosis spilorosea MONDO:8000031 Orphanet:79485 Orphanet:557494 obsolete subtype of a disorder +MONDO:0019328 macrocystic lymphatic malformation MONDO:0018720 Orphanet:79489 Orphanet:458833 obsolete common cystic lymphatic malformation +MONDO:0019328 macrocystic lymphatic malformation MONDO:8000032 Orphanet:79489 Orphanet:377789 obsolete malformation syndrome +MONDO:0019329 microcystic lymphatic malformation MONDO:0018720 Orphanet:79490 Orphanet:458833 obsolete common cystic lymphatic malformation +MONDO:0019329 microcystic lymphatic malformation MONDO:8000032 Orphanet:79490 Orphanet:377789 obsolete malformation syndrome +MONDO:0019330 pili gemini MONDO:0019281 Orphanet:79492 Orphanet:79366 obsolete isolated genetic hair shaft abnormality +MONDO:0019332 punctate palmoplantar keratoderma type 1 MONDO:0016518 Orphanet:79501 Orphanet:2338 obsolete isolated punctate palmoplantar keratoderma +MONDO:0019334 autosomal recessive hyperinsulinism due to Kir6.2 deficiency MONDO:0035862 Orphanet:79644 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome +MONDO:0019335 mild hyperphenylalaninemia MONDO:8000031 Orphanet:79651 Orphanet:557494 obsolete subtype of a disorder +MONDO:0019336 Gardner syndrome MONDO:0015950 Orphanet:79665 Orphanet:183487 obsolete inherited skin tumor +MONDO:0019336 Gardner syndrome MONDO:0019300 Orphanet:79665 Orphanet:79386 obsolete rare skin tumor or hamartoma +MONDO:0019336 Gardner syndrome MONDO:0020063 Orphanet:79665 Orphanet:98196 obsolete malformation syndrome with hamartosis +MONDO:0019336 Gardner syndrome MONDO:0034953 Orphanet:79665 Orphanet:519325 obsolete syndromic inherited retinal disorder +MONDO:0019336 Gardner syndrome MONDO:8000031 Orphanet:79665 Orphanet:557494 obsolete subtype of a disorder +MONDO:0019337 autoimmune bullous skin disease MONDO:0017841 Orphanet:79669 Orphanet:315350 obsolete autoimmune disease with skin involvement +MONDO:0019338 sarcoidosis MONDO:0015657 Orphanet:797 Orphanet:166484 obsolete inflammatory and autoimmune disease with epilepsy +MONDO:0019338 sarcoidosis MONDO:0016177 Orphanet:797 Orphanet:209007 obsolete systemic inflammatory disease associated with an acquired peripheral neuropathy +MONDO:0019338 sarcoidosis MONDO:0017028 Orphanet:797 Orphanet:264745 obsolete secondary interstitial lung disease specific to adulthood associated with a systemic disease +MONDO:0019338 sarcoidosis MONDO:0017259 Orphanet:797 Orphanet:280926 obsolete systemic diseases with anterior uveitis +MONDO:0019338 sarcoidosis MONDO:0017260 Orphanet:797 Orphanet:280930 obsolete systemic diseases with posterior uveitis +MONDO:0019338 sarcoidosis MONDO:0017261 Orphanet:797 Orphanet:280933 obsolete systemic diseases with panuveitis +MONDO:0019338 sarcoidosis MONDO:0017955 Orphanet:797 Orphanet:324930 obsolete granulomatous autoinflammatory syndrome +MONDO:0019338 sarcoidosis MONDO:0019843 Orphanet:797 Orphanet:95617 obsolete pituitary hormone deficiency secondary to a granulomatous disease +MONDO:0019339 47,XYY syndrome MONDO:0017005 Orphanet:8 Orphanet:263746 obsolete Y chromosome number anomaly +MONDO:0019339 47,XYY syndrome MONDO:8000032 Orphanet:8 Orphanet:377789 obsolete malformation syndrome +MONDO:0019340 scleroderma MONDO:0017368 Orphanet:801 Orphanet:290836 obsolete systemic disease with skin involvement +MONDO:0019342 Seckel syndrome MONDO:0017950 Orphanet:808 Orphanet:324761 obsolete microcephalic primordial dwarfism +MONDO:0019342 Seckel syndrome MONDO:0019699 Orphanet:808 Orphanet:93440 obsolete slender bone dysplasia +MONDO:0019342 Seckel syndrome MONDO:8000032 Orphanet:808 Orphanet:377789 obsolete malformation syndrome +MONDO:0019344 antisynthetase syndrome MONDO:0017028 Orphanet:81 Orphanet:264745 obsolete secondary interstitial lung disease specific to adulthood associated with a systemic disease +MONDO:0019345 shigellosis MONDO:0015575 Orphanet:810 Orphanet:163582 obsolete rare bacterial infectious disease +MONDO:0019346 sialidosis type 1 MONDO:0019058 Orphanet:812 Orphanet:68385 obsolete neurometabolic disease +MONDO:0019346 sialidosis type 1 MONDO:0035862 Orphanet:812 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome +MONDO:0019347 peeling skin syndrome MONDO:0017262 Orphanet:817 Orphanet:281082 obsolete inherited non-syndromic ichthyosis +MONDO:0019349 Sotos syndrome MONDO:0015945 Orphanet:821 Orphanet:183422 obsolete polymalformative genetic syndrome with increased risk of developing cancer +MONDO:0019349 Sotos syndrome MONDO:0020225 Orphanet:821 Orphanet:98641 obsolete syndromic cataract +MONDO:0019349 Sotos syndrome MONDO:0035863 Orphanet:821 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0019349 Sotos syndrome MONDO:0800091 Orphanet:821 Orphanet:498448 obsolete overgrowth or tall stature syndrome with skeletal involvement +MONDO:0019350 hereditary spherocytosis MONDO:0020101 Orphanet:822 Orphanet:98364 obsolete constitutional hemolytic anemia due to membrane defect +MONDO:0019351 isolated spina bifida MONDO:0017059 Orphanet:823 Orphanet:268357 obsolete neural tube closure defect +MONDO:0019354 Stickler syndrome MONDO:0019589 Orphanet:828 Orphanet:90642 obsolete syndromic genetic hearing loss +MONDO:0019354 Stickler syndrome MONDO:0020222 Orphanet:828 Orphanet:98638 obsolete rare disease with glaucoma as a major feature +MONDO:0019354 Stickler syndrome MONDO:0024145 Orphanet:828 Orphanet:138041 obsolete Pierre Robin syndrome associated with collagen disease +MONDO:0019354 Stickler syndrome MONDO:0034953 Orphanet:828 Orphanet:519325 obsolete syndromic inherited retinal disorder +MONDO:0019354 Stickler syndrome MONDO:0034954 Orphanet:828 Orphanet:519327 obsolete syndromic vitreoretinopathy +MONDO:0019355 adult-onset Still disease MONDO:0015940 Orphanet:829 Orphanet:182231 obsolete rare rheumatologic disease +MONDO:0019356 urogenital tract malformation MONDO:0015106 Orphanet:83001 Orphanet:101433 obsolete rare urogenital disease +MONDO:0019357 congenital narrowing of cervical spinal canal MONDO:0015141 Orphanet:831 Orphanet:102000 obsolete disorder of medulla oblongata +MONDO:0019358 encephalopathy due to sulfite oxidase deficiency MONDO:0016399 Orphanet:833 Orphanet:225689 obsolete amino acid or protein metabolism disease with epilepsy +MONDO:0019358 encephalopathy due to sulfite oxidase deficiency MONDO:0019058 Orphanet:833 Orphanet:68385 obsolete neurometabolic disease +MONDO:0019358 encephalopathy due to sulfite oxidase deficiency MONDO:0034937 Orphanet:833 Orphanet:519292 obsolete syndromic ectopia lentis +MONDO:0019358 encephalopathy due to sulfite oxidase deficiency MONDO:0035862 Orphanet:833 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome +MONDO:0019365 scrub typhus MONDO:0015575 Orphanet:83317 Orphanet:163582 obsolete rare bacterial infectious disease +MONDO:0019366 free sialic acid storage disease MONDO:0016397 Orphanet:834 Orphanet:225681 obsolete lysosomal disease with epilepsy +MONDO:0019366 free sialic acid storage disease MONDO:0019058 Orphanet:834 Orphanet:68385 obsolete neurometabolic disease +MONDO:0019366 free sialic acid storage disease MONDO:0035862 Orphanet:834 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome +MONDO:0019367 regional odontodysplasia MONDO:0015603 Orphanet:83450 Orphanet:164001 obsolete rare odontal or periodontal disorder +MONDO:0019368 florid cemento-osseous dysplasia MONDO:0015603 Orphanet:83451 Orphanet:164001 obsolete rare odontal or periodontal disorder +MONDO:0019369 complex regional pain syndrome MONDO:0020009 Orphanet:83452 Orphanet:98006 obsolete rare neurologic disease +MONDO:0019370 vulvovaginal gingival syndrome MONDO:0015859 Orphanet:83453 Orphanet:180205 obsolete rare non-malformative uterovaginal or vulvovaginal disease +MONDO:0019370 vulvovaginal gingival syndrome MONDO:0016768 Orphanet:83453 Orphanet:254373 obsolete rare mucosal lichen planus +MONDO:0019373 desmoplastic small round cell tumor MONDO:0015683 Orphanet:83469 Orphanet:168807 obsolete primary malignant peritoneal tumor +MONDO:0019374 CAMOS syndrome MONDO:0018609 Orphanet:83472 Orphanet:441434 obsolete syndromic hereditary optic neuropathy +MONDO:0019374 CAMOS syndrome MONDO:0035863 Orphanet:83472 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0019374 CAMOS syndrome MONDO:8000032 Orphanet:83472 Orphanet:377789 obsolete malformation syndrome +MONDO:0019375 megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome MONDO:0016055 Orphanet:83473 Orphanet:199639 obsolete syndrome with corpus callosum agenesis /dysgenesis as a major feature +MONDO:0019375 megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome MONDO:0017122 Orphanet:83473 Orphanet:269573 obsolete genetic syndrome with corpus callosum agenesis/dysgenesis as a major feature +MONDO:0019375 megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome MONDO:0035863 Orphanet:83473 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0019375 megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome MONDO:8000032 Orphanet:83473 Orphanet:377789 obsolete malformation syndrome +MONDO:0019376 West-Nile encephalitis MONDO:0015659 Orphanet:83476 Orphanet:166490 obsolete infectious disease with epilepsy +MONDO:0019377 Mycoplasma encephalitis MONDO:0015659 Orphanet:83482 Orphanet:166490 obsolete infectious disease with epilepsy +MONDO:0019378 la Crosse encephalitis MONDO:0015659 Orphanet:83483 Orphanet:166490 obsolete infectious disease with epilepsy +MONDO:0019380 western equine encephalitis MONDO:0015659 Orphanet:83593 Orphanet:166490 obsolete infectious disease with epilepsy +MONDO:0019383 acute disseminated encephalomyelitis MONDO:0015659 Orphanet:83597 Orphanet:166490 obsolete infectious disease with epilepsy +MONDO:0019383 acute disseminated encephalomyelitis MONDO:0016428 Orphanet:83597 Orphanet:228145 obsolete multiple sclerosis variant +MONDO:0019384 encephalitis lethargica MONDO:0015659 Orphanet:83600 Orphanet:166490 obsolete infectious disease with epilepsy +MONDO:0019384 encephalitis lethargica MONDO:0017635 Orphanet:83600 Orphanet:306666 obsolete parkinsonian syndrome due to neurodegenerative disease +MONDO:0019384 encephalitis lethargica MONDO:0020069 Orphanet:83600 Orphanet:98255 obsolete chronic encephalitis +MONDO:0019385 steroid-responsive encephalopathy associated with autoimmune thyroiditis MONDO:0015777 Orphanet:83601 Orphanet:177101 obsolete adult hypothyroidism +MONDO:0019385 steroid-responsive encephalopathy associated with autoimmune thyroiditis MONDO:0020016 Orphanet:83601 Orphanet:98033 obsolete rare neurologic disease with psychiatric involvement +MONDO:0019386 progressive rubella panencephalitis MONDO:0015659 Orphanet:83616 Orphanet:166490 obsolete infectious disease with epilepsy +MONDO:0019386 progressive rubella panencephalitis MONDO:0020069 Orphanet:83616 Orphanet:98255 obsolete chronic encephalitis +MONDO:0019387 macrostomia-preauricular tags-external ophthalmoplegia syndrome MONDO:0043008 Orphanet:83619 Orphanet:330206 obsolete genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability +MONDO:0019387 macrostomia-preauricular tags-external ophthalmoplegia syndrome MONDO:8000032 Orphanet:83619 Orphanet:377789 obsolete malformation syndrome +MONDO:0019388 pelvis syndrome MONDO:0015246 Orphanet:83628 Orphanet:117573 obsolete syndromic anorectal malformation +MONDO:0019388 pelvis syndrome MONDO:0017120 Orphanet:83628 Orphanet:269531 obsolete other syndrome with a central nervous system malformation as major feature +MONDO:0019388 pelvis syndrome MONDO:0018718 Orphanet:83628 Orphanet:458827 obsolete vascular tumor with associated anomalies +MONDO:0019388 pelvis syndrome MONDO:0019299 Orphanet:83628 Orphanet:79385 obsolete unclassified genetic skin disorder +MONDO:0019388 pelvis syndrome MONDO:0043008 Orphanet:83628 Orphanet:330206 obsolete genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability +MONDO:0019388 pelvis syndrome MONDO:8000032 Orphanet:83628 Orphanet:377789 obsolete malformation syndrome +MONDO:0019390 Susac syndrome MONDO:0015939 Orphanet:838 Orphanet:182228 obsolete systemic autoimmune disease +MONDO:0019390 Susac syndrome MONDO:0019110 Orphanet:838 Orphanet:71281 obsolete rare central nervous system or retinal vascular disease +MONDO:0019390 Susac syndrome MONDO:0024471 Orphanet:838 Orphanet:496924 obsolete non-inflammatory vasculopathy +MONDO:0019391 Fanconi anemia MONDO:0015945 Orphanet:84 Orphanet:183422 obsolete polymalformative genetic syndrome with increased risk of developing cancer +MONDO:0019391 Fanconi anemia MONDO:0017432 Orphanet:84 Orphanet:294955 obsolete syndrome with limb reduction defects +MONDO:0019391 Fanconi anemia MONDO:0019747 Orphanet:84 Orphanet:93614 obsolete hematological disorder with renal involvement +MONDO:0019391 Fanconi anemia MONDO:0035863 Orphanet:84 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0019391 Fanconi anemia MONDO:0043008 Orphanet:84 Orphanet:330206 obsolete genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability +MONDO:0019391 Fanconi anemia MONDO:8000032 Orphanet:84 Orphanet:377789 obsolete malformation syndrome +MONDO:0019392 syringocystadenoma papilliferum MONDO:0015950 Orphanet:840 Orphanet:183487 obsolete inherited skin tumor +MONDO:0019392 syringocystadenoma papilliferum MONDO:0019300 Orphanet:840 Orphanet:79386 obsolete rare skin tumor or hamartoma +MONDO:0019393 idiopathic malabsorption due to bile acid synthesis defects MONDO:0015180 Orphanet:84065 Orphanet:104005 obsolete intestinal disease due to fat malabsorption +MONDO:0019394 Senior-Boichis syndrome MONDO:0022409 Orphanet:84081 Orphanet:156162 obsolete nephropathy-associated ciliopathy +MONDO:0019395 Hinman syndrome MONDO:0015106 Orphanet:84085 Orphanet:101433 obsolete rare urogenital disease +MONDO:0019399 Isaac syndrome MONDO:0016375 Orphanet:84142 Orphanet:221114 obsolete acquired peripheral movement disorder +MONDO:0019399 Isaac syndrome MONDO:0038268 Orphanet:84142 Orphanet:98750 obsolete autoimmune neurological channelopathy +MONDO:0019402 beta thalassemia MONDO:0019747 Orphanet:848 Orphanet:93614 obsolete hematological disorder with renal involvement +MONDO:0019402 beta thalassemia MONDO:0019844 Orphanet:848 Orphanet:95618 obsolete pituitary hormone deficiency secondary to storage disease +MONDO:0019403 congenital dyserythropoietic anemia MONDO:0017397 Orphanet:85 Orphanet:293830 obsolete constitutional dyserythropoietic anemia +MONDO:0019405 facial onset sensory and motor neuronopathy MONDO:0015918 Orphanet:85162 Orphanet:182070 obsolete rare neurodegenerative disease +MONDO:0019406 craniofacial conodysplasia MONDO:8000032 Orphanet:85168 Orphanet:377789 obsolete malformation syndrome +MONDO:0019407 microcephalic osteodysplastic dysplasia, Saul-Wilson type MONDO:0017950 Orphanet:85172 Orphanet:324761 obsolete microcephalic primordial dwarfism +MONDO:0019407 microcephalic osteodysplastic dysplasia, Saul-Wilson type MONDO:0019699 Orphanet:85172 Orphanet:93440 obsolete slender bone dysplasia +MONDO:0019407 microcephalic osteodysplastic dysplasia, Saul-Wilson type MONDO:0020225 Orphanet:85172 Orphanet:98641 obsolete syndromic cataract +MONDO:0019408 Astley-Kendall dysplasia MONDO:8000032 Orphanet:85175 Orphanet:377789 obsolete malformation syndrome +MONDO:0019409 idiopathic juvenile osteoporosis MONDO:0015940 Orphanet:85193 Orphanet:182231 obsolete rare rheumatologic disease +MONDO:0019409 idiopathic juvenile osteoporosis MONDO:0019704 Orphanet:85193 Orphanet:93446 obsolete primary bone dysplasia with decreased bone density +MONDO:0019409 idiopathic juvenile osteoporosis MONDO:8000032 Orphanet:85193 Orphanet:377789 obsolete malformation syndrome +MONDO:0019411 genochondromatosis type 1 MONDO:0800089 Orphanet:85197 Orphanet:93450 obsolete primary bone dysplasia with disorganized development of skeletal components +MONDO:0019412 dysspondyloenchondromatosis MONDO:0800089 Orphanet:85198 Orphanet:93450 obsolete primary bone dysplasia with disorganized development of skeletal components +MONDO:0019412 dysspondyloenchondromatosis MONDO:8000032 Orphanet:85198 Orphanet:377789 obsolete malformation syndrome +MONDO:0019413 ischio-vertebral syndrome MONDO:0019711 Orphanet:85200 Orphanet:93454 obsolete dysostosis with predominant vertebral and costal involvement +MONDO:0019413 ischio-vertebral syndrome MONDO:8000032 Orphanet:85200 Orphanet:377789 obsolete malformation syndrome +MONDO:0019414 BRESEK syndrome MONDO:0035863 Orphanet:85284 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0019414 BRESEK syndrome MONDO:8000032 Orphanet:85284 Orphanet:377789 obsolete malformation syndrome +MONDO:0019415 fetal and neonatal alloimmune thrombocytopenia MONDO:0016631 Orphanet:853 Orphanet:248347 obsolete hemorrhagic disorder due to an acquired platelet anomaly +MONDO:0019416 X-linked intellectual disability-hypogammaglobulinemia-progressive neurological deterioration syndrome MONDO:0035863 Orphanet:85317 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0019416 X-linked intellectual disability-hypogammaglobulinemia-progressive neurological deterioration syndrome MONDO:8000032 Orphanet:85317 Orphanet:377789 obsolete malformation syndrome +MONDO:0019418 X-linked intellectual disability-epilepsy-progressive joint contractures-dysmorphism syndrome MONDO:0035863 Orphanet:85319 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0019418 X-linked intellectual disability-epilepsy-progressive joint contractures-dysmorphism syndrome MONDO:8000032 Orphanet:85319 Orphanet:377789 obsolete malformation syndrome +MONDO:0019419 X-linked intellectual disability-macrocephaly-macroorchidism syndrome MONDO:0035863 Orphanet:85320 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0019419 X-linked intellectual disability-macrocephaly-macroorchidism syndrome MONDO:8000032 Orphanet:85320 Orphanet:377789 obsolete malformation syndrome +MONDO:0019420 X-linked intellectual disability, Pai type MONDO:0035863 Orphanet:85322 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0019420 X-linked intellectual disability, Pai type MONDO:8000032 Orphanet:85322 Orphanet:377789 obsolete malformation syndrome +MONDO:0019421 X-linked intellectual disability, Seemanova type MONDO:0035863 Orphanet:85323 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0019422 X-linked intellectual disability, Stevenson type MONDO:0035863 Orphanet:85325 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0019422 X-linked intellectual disability, Stevenson type MONDO:8000032 Orphanet:85325 Orphanet:377789 obsolete malformation syndrome +MONDO:0019423 X-linked intellectual disability, Stoll type MONDO:0035863 Orphanet:85326 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0019423 X-linked intellectual disability, Stoll type MONDO:8000032 Orphanet:85326 Orphanet:377789 obsolete malformation syndrome +MONDO:0019424 X-linked intellectual disability-acromegaly-hyperactivity syndrome MONDO:0035863 Orphanet:85327 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0019427 X-linked neurodegenerative syndrome, Bertini type MONDO:0015918 Orphanet:85334 Orphanet:182070 obsolete rare neurodegenerative disease +MONDO:0019427 X-linked neurodegenerative syndrome, Bertini type MONDO:0035862 Orphanet:85334 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome +MONDO:0019428 fried syndrome MONDO:0035863 Orphanet:85335 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0019428 fried syndrome MONDO:8000032 Orphanet:85335 Orphanet:377789 obsolete malformation syndrome +MONDO:0019429 X-linked neurodegenerative syndrome, Hamel type MONDO:0015918 Orphanet:85336 Orphanet:182070 obsolete rare neurodegenerative disease +MONDO:0019429 X-linked neurodegenerative syndrome, Hamel type MONDO:0035862 Orphanet:85336 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome +MONDO:0019430 X-linked intellectual disability-ataxia-apraxia syndrome MONDO:0035862 Orphanet:85338 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome +MONDO:0019431 primitive portal vein thrombosis MONDO:0015113 Orphanet:854 Orphanet:101938 obsolete rare vascular liver disease +MONDO:0019431 primitive portal vein thrombosis MONDO:0032013 Orphanet:854 Orphanet:377792 obsolete clinical syndrome +MONDO:0019432 rheumatoid factor-negative juvenile idiopathic arthritis MONDO:0017259 Orphanet:85408 Orphanet:280926 obsolete systemic diseases with anterior uveitis +MONDO:0019433 oligoarticular juvenile idiopathic arthritis MONDO:0017259 Orphanet:85410 Orphanet:280926 obsolete systemic diseases with anterior uveitis +MONDO:0019437 enthesitis-related juvenile idiopathic arthritis MONDO:0017259 Orphanet:85438 Orphanet:280926 obsolete systemic diseases with anterior uveitis +MONDO:0019438 AL amyloidosis MONDO:0016179 Orphanet:85443 Orphanet:209013 obsolete acquired amyloid peripheral neuropathy +MONDO:0019439 AA amyloidosis MONDO:0016179 Orphanet:85445 Orphanet:209013 obsolete acquired amyloid peripheral neuropathy +MONDO:0019441 ATTRV122I amyloidosis MONDO:0017132 Orphanet:85451 Orphanet:271861 obsolete hereditary ATTR amyloidosis +MONDO:0019443 dextro-looped transposition of the great arteries MONDO:0017131 Orphanet:860 Orphanet:271853 obsolete hereditary cardiac anomaly +MONDO:0019443 dextro-looped transposition of the great arteries MONDO:8000030 Orphanet:860 Orphanet:377791 obsolete morphological anomaly +MONDO:0019444 trichinellosis MONDO:0015577 Orphanet:863 Orphanet:163588 obsolete rare parasitic disease +MONDO:0019445 trichofolliculoma MONDO:0019300 Orphanet:864 Orphanet:79386 obsolete rare skin tumor or hamartoma +MONDO:0019448 benign adult familial myoclonic epilepsy MONDO:0017651 Orphanet:86814 Orphanet:306750 obsolete primary myoclonus +MONDO:0019449 lissencephaly type 3-familial fetal akinesia sequence syndrome MONDO:8000032 Orphanet:86821 Orphanet:377789 obsolete malformation syndrome +MONDO:0019469 T-cell large granular lymphocyte leukemia MONDO:0015822 Orphanet:86872 Orphanet:178996 obsolete acquired neutropenia +MONDO:0019469 T-cell large granular lymphocyte leukemia MONDO:0034872 Orphanet:86872 Orphanet:512034 obsolete large granular lymphocyte leukemia +MONDO:0019470 aggressive NK-cell leukemia MONDO:0034872 Orphanet:86873 Orphanet:512034 obsolete large granular lymphocyte leukemia +MONDO:0019471 adult T-cell leukemia/lymphoma MONDO:0015817 Orphanet:86875 Orphanet:178551 obsolete aggressive primary cutaneous T-cell lymphoma +MONDO:0019472 extranodal nasal NK/T cell lymphoma MONDO:0015817 Orphanet:86879 Orphanet:178551 obsolete aggressive primary cutaneous T-cell lymphoma +MONDO:0019473 enteropathy-associated T-cell lymphoma MONDO:0018505 Orphanet:86880 Orphanet:423793 obsolete rare tumor of small intestine +MONDO:0019476 primary cutaneous peripheral T-cell lymphoma not otherwise specified MONDO:0015817 Orphanet:86885 Orphanet:178551 obsolete aggressive primary cutaneous T-cell lymphoma +MONDO:0019479 histiocytic sarcoma MONDO:0020081 Orphanet:86896 Orphanet:98288 obsolete macrophage or histiocytic tumor +MONDO:0019484 hypothalamic hamartomas with gelastic seizures MONDO:0015655 Orphanet:86906 Orphanet:166478 obsolete cerebral malformation with epilepsy +MONDO:0019485 idiopathic hemiconvulsion-hemiplegia syndrome MONDO:0018200 Orphanet:86908 Orphanet:363567 obsolete acute encephalopathy with inflammation-mediated status epilepticus MONDO:0019486 obsolete myoclonic epilepsy of infancy MONDO:0000001 Orphanet:86909 Orphanet:377788 disease +MONDO:0019486 obsolete myoclonic epilepsy of infancy MONDO:0020071 Orphanet:86909 Orphanet:98258 infantile epilepsy syndrome +MONDO:0019487 epilepsy with myoclonic absences MONDO:0017654 Orphanet:86911 Orphanet:306759 obsolete non progressive epilepsy and/or ataxia with myoclonus as a major feature +MONDO:0019488 myoclonic epilepsy in non-progressive encephalopathies MONDO:8000032 Orphanet:86913 Orphanet:377789 obsolete malformation syndrome +MONDO:0019489 diffuse palmoplantar keratoderma - acrocyanosis syndrome MONDO:0020094 Orphanet:86918 Orphanet:98352 obsolete autosomal dominant disease with diffuse palmoplantar keratoderma as a major feature +MONDO:0019490 progressive familial heart block MONDO:0015110 Orphanet:871 Orphanet:101934 obsolete genetic cardiac rhythm disease +MONDO:0019491 obsolete rare intellectual disability MONDO:0020009 Orphanet:87277 Orphanet:98006 obsolete rare neurologic disease +MONDO:0019493 primary adult heart tumor MONDO:0015673 Orphanet:874 Orphanet:168194 obsolete rare cardiac tumor +MONDO:0019494 primary pediatric heart tumor MONDO:0015673 Orphanet:875 Orphanet:168194 obsolete rare cardiac tumor +MONDO:0019496 neuroendocrine neoplasm MONDO:0015936 Orphanet:877 Orphanet:182130 obsolete rare tumor of endocrine glands +MONDO:0019496 neuroendocrine neoplasm MONDO:0020005 Orphanet:877 Orphanet:97978 obsolete rare endocrine disease +MONDO:0019497 nonsyndromic genetic hearing loss MONDO:0019047 Orphanet:87884 Orphanet:68361 obsolete rare deafness +MONDO:0019497 nonsyndromic genetic hearing loss MONDO:0037716 Orphanet:87884 Orphanet:96210 obsolete rare genetic deafness +MONDO:0019498 tungiasis MONDO:0015577 Orphanet:879 Orphanet:163588 obsolete rare parasitic disease +MONDO:0019499 Turner syndrome MONDO:0015620 Orphanet:881 Orphanet:165707 obsolete syndromic urogenital tract malformation +MONDO:0019499 Turner syndrome MONDO:0017000 Orphanet:881 Orphanet:263717 obsolete X chromosome number anomaly with female phenotype +MONDO:0019499 Turner syndrome MONDO:0017978 Orphanet:881 Orphanet:325638 obsolete syndrome with disorder of sex development of gynecological interest +MONDO:0019499 Turner syndrome MONDO:0018402 Orphanet:881 Orphanet:399877 obsolete female infertility due to gonadal dysgenesis +MONDO:0019499 Turner syndrome MONDO:0018792 Orphanet:881 Orphanet:477771 obsolete Moyamoya syndrome +MONDO:0019499 Turner syndrome MONDO:0019721 Orphanet:881 Orphanet:93547 obsolete syndromic renal or urinary tract malformation +MONDO:0019499 Turner syndrome MONDO:0020165 Orphanet:881 Orphanet:98574 obsolete syndromic epicanthus +MONDO:0019499 Turner syndrome MONDO:0020226 Orphanet:881 Orphanet:98642 obsolete chromosomal anomaly with cataract +MONDO:0019499 Turner syndrome MONDO:0034443 Orphanet:881 Orphanet:485382 obsolete genetic non-acquired premature ovarian failure +MONDO:0019499 Turner syndrome MONDO:0035471 Orphanet:881 Orphanet:568047 obsolete disorder with multisystemic involvement and primary lymphedema +MONDO:0019499 Turner syndrome MONDO:8000032 Orphanet:881 Orphanet:377789 obsolete malformation syndrome +MONDO:0019501 Usher syndrome MONDO:0019589 Orphanet:886 Orphanet:90642 obsolete syndromic genetic hearing loss +MONDO:0019501 Usher syndrome MONDO:0020240 Orphanet:886 Orphanet:98661 obsolete syndromic retinitis pigmentosa +MONDO:0019501 Usher syndrome MONDO:0022404 Orphanet:886 Orphanet:156177 obsolete retinal ciliopathy due to mutation in Usher gene +MONDO:0019502 autosomal recessive non-syndromic intellectual disability MONDO:0015108 Orphanet:88616 Orphanet:101685 obsolete rare non-syndromic intellectual disability +MONDO:0019502 autosomal recessive non-syndromic intellectual disability MONDO:8000031 Orphanet:88616 Orphanet:557494 obsolete subtype of a disorder +MONDO:0019503 anterior segment dysgenesis MONDO:0020145 Orphanet:88632 Orphanet:98553 obsolete developmental defect of the eye +MONDO:0019503 anterior segment dysgenesis MONDO:0026186 Orphanet:88632 Orphanet:183557 obsolete genetic developmental defect of the eye +MONDO:0019504 superior limbic keratoconjunctivitis MONDO:0034931 Orphanet:88633 Orphanet:519280 obsolete rare conjunctivitis +MONDO:0019505 obsolete hypomyelination-hypogonadotropic hypogonadism-hypodontia syndrome MONDO:0015890 Orphanet:88637 Orphanet:181387 obsolete rare disorder with congenital hypogonadotropic hypogonadism +MONDO:0019505 obsolete hypomyelination-hypogonadotropic hypogonadism-hypodontia syndrome MONDO:0017333 Orphanet:88637 Orphanet:289494 obsolete hypomyelinating leukodystrophy with or without oligondontia and/or hypogonadism +MONDO:0019505 obsolete hypomyelination-hypogonadotropic hypogonadism-hypodontia syndrome MONDO:0035862 Orphanet:88637 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome +MONDO:0019505 obsolete hypomyelination-hypogonadotropic hypogonadism-hypodontia syndrome MONDO:8000031 Orphanet:88637 Orphanet:557494 obsolete subtype of a disorder +MONDO:0019506 obesity-colitis-hypothyroidism-cardiac hypertrophy-developmental delay syndrome MONDO:0015778 Orphanet:88643 Orphanet:177107 obsolete syndromic hypothyroidism +MONDO:0019507 amelogenesis imperfecta MONDO:0015603 Orphanet:88661 Orphanet:164001 obsolete rare odontal or periodontal disorder +MONDO:0019507 amelogenesis imperfecta MONDO:0018488 Orphanet:88661 Orphanet:420755 obsolete rare genetic odontal or periodontal disorder +MONDO:0019508 van der Woude syndrome MONDO:0015501 Orphanet:888 Orphanet:156237 obsolete syndrome or malformation associated with head and neck malformations +MONDO:0019508 van der Woude syndrome MONDO:0043008 Orphanet:888 Orphanet:330206 obsolete genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability +MONDO:0019508 van der Woude syndrome MONDO:8000032 Orphanet:888 Orphanet:377789 obsolete malformation syndrome +MONDO:0019512 congenital heart malformation MONDO:0020003 Orphanet:88991 Orphanet:97965 obsolete rare surgical cardiac disease +MONDO:0019513 obsolete esophageal malformation MONDO:0020019 Orphanet:88993 Orphanet:98039 obsolete digestive tract malformation +MONDO:0019513 obsolete esophageal malformation MONDO:0026183 Orphanet:88993 Orphanet:183545 obsolete genetic digestive tract malformation +MONDO:0019514 hepatic veno-occlusive disease MONDO:0015113 Orphanet:890 Orphanet:101938 obsolete rare vascular liver disease +MONDO:0019515 obsolete rare dementia MONDO:0020016 Orphanet:89043 Orphanet:98033 obsolete rare neurologic disease with psychiatric involvement +MONDO:0019516 exudative vitreoretinopathy MONDO:0015953 Orphanet:891 Orphanet:183503 obsolete genetic central nervous system and retinal vascular disease +MONDO:0019516 exudative vitreoretinopathy MONDO:0019110 Orphanet:891 Orphanet:71281 obsolete rare central nervous system or retinal vascular disease +MONDO:0019516 exudative vitreoretinopathy MONDO:0034943 Orphanet:891 Orphanet:519304 obsolete isolated vitreoretinopathy +MONDO:0019517 Waardenburg syndrome type 2 MONDO:8000031 Orphanet:895 Orphanet:557494 obsolete subtype of a disorder +MONDO:0019518 Waardenburg-Shah syndrome MONDO:0015184 Orphanet:897 Orphanet:104009 obsolete rare disease involving intestinal motility +MONDO:0019518 Waardenburg-Shah syndrome MONDO:0019589 Orphanet:897 Orphanet:90642 obsolete syndromic genetic hearing loss +MONDO:0019518 Waardenburg-Shah syndrome MONDO:0035340 Orphanet:897 Orphanet:557866 obsolete rare disorder with hirschsprung disease as a major feature +MONDO:0019519 obsolete rare skin disease MONDO:8000033 Orphanet:89826 Orphanet:557492 obsolete group of disorders +MONDO:0019524 Bartter syndrome type 4 MONDO:0019589 Orphanet:89938 Orphanet:90642 obsolete syndromic genetic hearing loss +MONDO:0019524 Bartter syndrome type 4 MONDO:8000031 Orphanet:89938 Orphanet:557494 obsolete subtype of a disorder +MONDO:0019525 tetrasomy X MONDO:0017002 Orphanet:9 Orphanet:263723 obsolete polysomy of X chromosome +MONDO:0019525 tetrasomy X MONDO:0018401 Orphanet:9 Orphanet:399853 obsolete female infertility due to an anomaly of ovarian function +MONDO:0019525 tetrasomy X MONDO:0018413 Orphanet:9 Orphanet:400022 obsolete female infertility due to an anomaly of ovarian function of genetic origin +MONDO:0019525 tetrasomy X MONDO:0034443 Orphanet:9 Orphanet:485382 obsolete genetic non-acquired premature ovarian failure +MONDO:0019525 tetrasomy X MONDO:8000032 Orphanet:9 Orphanet:377789 obsolete malformation syndrome +MONDO:0019526 erythema elevatum diutinum MONDO:0019546 Orphanet:90000 Orphanet:90077 obsolete other acquired skin disease +MONDO:0019527 undifferentiated connective tissue syndrome MONDO:0015939 Orphanet:90002 Orphanet:182228 obsolete systemic autoimmune disease +MONDO:0019528 inflammatory pseudotumor of the liver MONDO:0015114 Orphanet:90003 Orphanet:101939 obsolete rare parenchymal liver disease +MONDO:0019529 radiation myelitis MONDO:0015141 Orphanet:90021 Orphanet:102000 obsolete disorder of medulla oblongata +MONDO:0019530 non-syndromic syndactyly MONDO:0019714 Orphanet:90025 Orphanet:93458 obsolete non-syndromic polydactyly, syndactyly and/or hyperphalangy +MONDO:0019531 hemolytic anemia due to glutathione reductase deficiency MONDO:0020105 Orphanet:90030 Orphanet:98370 obsolete hemolytic anemia due to hexose monophosphate shunt and glutathione metabolism anomalies +MONDO:0019536 Shiga toxin-associated hemolytic uremic syndrome MONDO:8000031 Orphanet:90038 Orphanet:557494 obsolete subtype of a disorder +MONDO:0019537 hemoglobin D disease MONDO:0034039 Orphanet:90039 Orphanet:466066 obsolete genetic hemoglobinopathy +MONDO:0019538 Gaisbock syndrome MONDO:0016634 Orphanet:90041 Orphanet:248365 obsolete thrombotic disorder due to an acquired coagulation factors defect +MONDO:0019540 diffuse alveolar hemorrhage MONDO:0015118 Orphanet:90060 Orphanet:101944 obsolete rare pulmonary disease +MONDO:0019540 diffuse alveolar hemorrhage MONDO:0032013 Orphanet:90060 Orphanet:377792 obsolete clinical syndrome +MONDO:0019541 obsolete non-infectious posterior uveitis MONDO:0001280 Orphanet:90061 Orphanet:280892 choroiditis +MONDO:0019542 acute liver failure MONDO:0018928 Orphanet:90062 Orphanet:57146 obsolete rare hepatic disease +MONDO:0019542 acute liver failure MONDO:0032013 Orphanet:90062 Orphanet:377792 obsolete clinical syndrome +MONDO:0019543 acquired aneurysmal subarachnoid hemorrhage MONDO:0019110 Orphanet:90065 Orphanet:71281 obsolete rare central nervous system or retinal vascular disease +MONDO:0019543 acquired aneurysmal subarachnoid hemorrhage MONDO:0032014 Orphanet:90065 Orphanet:377793 obsolete particular clinical situation in a disease or syndrome +MONDO:0019544 cocaine intoxication MONDO:0035328 Orphanet:90068 Orphanet:556508 obsolete rare disorder due to poisoning +MONDO:0019545 systemic monochloroacetate poisoning MONDO:0035328 Orphanet:90069 Orphanet:556508 obsolete rare disorder due to poisoning +MONDO:0019546 obsolete other acquired skin disease MONDO:0019519 Orphanet:90077 Orphanet:89826 obsolete rare skin disease +MONDO:0019547 Wells syndrome MONDO:0019546 Orphanet:901 Orphanet:90077 obsolete other acquired skin disease +MONDO:0019549 severe early-onset axonal neuropathy due to MFN2 deficiency MONDO:0019601 Orphanet:90118 Orphanet:91024 obsolete autosomal recessive axonal hereditary motor and sensory neuropathy +MONDO:0019550 hereditary motor and sensory neuropathy with acrodystrophy MONDO:0019601 Orphanet:90119 Orphanet:91024 obsolete autosomal recessive axonal hereditary motor and sensory neuropathy +MONDO:0019551 hereditary motor and sensory neuropathy type 6 MONDO:0015360 Orphanet:90120 Orphanet:140456 obsolete autosomal dominant hereditary axonal motor and sensory neuropathy +MONDO:0019551 hereditary motor and sensory neuropathy type 6 MONDO:0019601 Orphanet:90120 Orphanet:91024 obsolete autosomal recessive axonal hereditary motor and sensory neuropathy +MONDO:0019557 chilblain lupus MONDO:0015948 Orphanet:90280 Orphanet:183478 obsolete rare genetic skin vascular disorder +MONDO:0019565 hereditary von Willebrand disease MONDO:0019039 Orphanet:903 Orphanet:68334 obsolete rare hemorrhagic disorder due to a constitutional coagulation factors defect +MONDO:0019569 Cockayne syndrome type 1 MONDO:8000031 Orphanet:90321 Orphanet:557494 obsolete subtype of a disorder +MONDO:0019570 Cockayne syndrome type 2 MONDO:8000031 Orphanet:90322 Orphanet:557494 obsolete subtype of a disorder +MONDO:0019572 autosomal recessive cutis laxa type 1 MONDO:0016517 Orphanet:90349 Orphanet:233655 obsolete rare genetic vascular disease +MONDO:0019573 autosomal recessive cutis laxa type 2 MONDO:0019704 Orphanet:90350 Orphanet:93446 obsolete primary bone dysplasia with decreased bone density +MONDO:0019575 hypotrichosis simplex of the scalp MONDO:0021034 Orphanet:90368 Orphanet:481771 obsolete hereditary alopecia +MONDO:0019576 telangiectasia macularis eruptiva perstans MONDO:8000031 Orphanet:90389 Orphanet:557494 obsolete subtype of a disorder +MONDO:0019577 anonychia-onychodystrophy syndrome MONDO:8000031 Orphanet:90390 Orphanet:557494 obsolete subtype of a disorder +MONDO:0019583 localized lichen myxedematosus with mixed features of different subtypes MONDO:8000031 Orphanet:90398 Orphanet:557494 obsolete subtype of a disorder +MONDO:0019584 localized lichen myxedematosus with monoclonal gammopathy or systemic symptoms MONDO:8000031 Orphanet:90399 Orphanet:557494 obsolete subtype of a disorder +MONDO:0019585 scleromyxedema without monoclonal gammopathy MONDO:8000031 Orphanet:90400 Orphanet:557494 obsolete subtype of a disorder +MONDO:0019586 X-linked nonsyndromic hearing loss MONDO:8000031 Orphanet:90625 Orphanet:557494 obsolete subtype of a disorder +MONDO:0019587 autosomal dominant nonsyndromic hearing loss MONDO:8000031 Orphanet:90635 Orphanet:557494 obsolete subtype of a disorder +MONDO:0019588 hearing loss, autosomal recessive MONDO:8000031 Orphanet:90636 Orphanet:557494 obsolete subtype of a disorder +MONDO:0019589 obsolete syndromic genetic hearing loss MONDO:0019047 Orphanet:90642 Orphanet:68361 obsolete rare deafness +MONDO:0019589 obsolete syndromic genetic hearing loss MONDO:0019755 Orphanet:90642 Orphanet:93890 developmental defect during embryogenesis +MONDO:0019589 obsolete syndromic genetic hearing loss MONDO:0037716 Orphanet:90642 Orphanet:96210 obsolete rare genetic deafness +MONDO:0019590 obsolete rare endocrine growth disease MONDO:0020005 Orphanet:90692 Orphanet:97978 obsolete rare endocrine disease +MONDO:0019591 panhypopituitarism MONDO:0015789 Orphanet:90695 Orphanet:178025 obsolete non-acquired combined pituitary hormone deficiencies without extra-pituitary malformations +MONDO:0019591 panhypopituitarism MONDO:0015891 Orphanet:90695 Orphanet:181390 obsolete hypogonadotropic hypogonadism associated with other endocrinopathies +MONDO:0019593 obsolete 46,XX disorder of sex development induced by fetal androgens excess MONDO:0020039 Orphanet:90776 Orphanet:98078 obsolete 46,XX disorder of sex development induced by androgens excess +MONDO:0019593 obsolete 46,XX disorder of sex development induced by fetal androgens excess MONDO:0031004 Orphanet:90776 Orphanet:325665 obsolete genetic disorder of sex development of gynecological interest +MONDO:0019593 obsolete 46,XX disorder of sex development induced by fetal androgens excess MONDO:0957024 Orphanet:90776 Orphanet:325697 obsolete hereditary 46,XX disorder of sex development +MONDO:0019594 obsolete 46,XY disorder of sex development due to a testosterone synthesis defect MONDO:0017970 Orphanet:90783 Orphanet:325357 obsolete 46,XY disorder of sex development due to impaired androgen production +MONDO:0019595 obsolete 46,XY disorder of sex development due to adrenal and testicular steroidogenesis defect MONDO:0017977 Orphanet:90786 Orphanet:325632 obsolete 46,XY disorder of sex development of gynecological interest +MONDO:0019595 obsolete 46,XY disorder of sex development due to adrenal and testicular steroidogenesis defect MONDO:0019594 Orphanet:90786 Orphanet:90783 obsolete 46,XY disorder of sex development due to a testosterone synthesis defect +MONDO:0019596 obsolete 46,XY disorder of sex development due to testicular steroidogenesis defect MONDO:0017977 Orphanet:90787 Orphanet:325632 obsolete 46,XY disorder of sex development of gynecological interest +MONDO:0019596 obsolete 46,XY disorder of sex development due to testicular steroidogenesis defect MONDO:0019594 Orphanet:90787 Orphanet:90783 obsolete 46,XY disorder of sex development due to a testosterone synthesis defect MONDO:0019597 obsolete 46,XY disorder of sex development due to isolated 17,20-lyase deficiency MONDO:0000001 Orphanet:90796 Orphanet:377788 disease +MONDO:0019597 obsolete 46,XY disorder of sex development due to isolated 17,20-lyase deficiency MONDO:0019596 Orphanet:90796 Orphanet:90787 obsolete 46,XY disorder of sex development due to testicular steroidogenesis defect +MONDO:0019599 obsolete primary lipodystrophy MONDO:0019296 Orphanet:90970 Orphanet:79382 subcutaneous tissue disorder +MONDO:0019599 obsolete primary lipodystrophy MONDO:0020005 Orphanet:90970 Orphanet:97978 obsolete rare endocrine disease +MONDO:0019600 xeroderma pigmentosum MONDO:0015331 Orphanet:910 Orphanet:139027 obsolete malformation syndrome with skin/mucosae involvement +MONDO:0019600 xeroderma pigmentosum MONDO:0015945 Orphanet:910 Orphanet:183422 obsolete polymalformative genetic syndrome with increased risk of developing cancer +MONDO:0019600 xeroderma pigmentosum MONDO:0019304 Orphanet:910 Orphanet:79390 obsolete rare photodermatosis +MONDO:0019600 xeroderma pigmentosum MONDO:0020045 Orphanet:910 Orphanet:98097 obsolete autosomal recessive cerebellar ataxia due to a DNA repair defect +MONDO:0019600 xeroderma pigmentosum MONDO:0020162 Orphanet:910 Orphanet:98571 obsolete secondary ectropion +MONDO:0019600 xeroderma pigmentosum MONDO:0020225 Orphanet:910 Orphanet:98641 obsolete syndromic cataract +MONDO:0019600 xeroderma pigmentosum MONDO:0031689 Orphanet:910 Orphanet:363245 obsolete genetic progeroid syndrome +MONDO:0019600 xeroderma pigmentosum MONDO:0034926 Orphanet:910 Orphanet:519270 obsolete rare disorder with entropion +MONDO:0019600 xeroderma pigmentosum MONDO:0035862 Orphanet:910 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome +MONDO:0019601 obsolete autosomal recessive axonal hereditary motor and sensory neuropathy MONDO:0018775 Orphanet:91024 Orphanet:476109 obsolete axonal hereditary motor and sensory neuropathy +MONDO:0019602 obsolete other inborn metabolic disease MONDO:0019052 Orphanet:91088 Orphanet:68367 inborn errors of metabolism +MONDO:0019604 acquired monoclonal Ig light chain-associated Fanconi syndrome MONDO:0019744 Orphanet:91136 Orphanet:93603 obsolete rare renal tubular disease +MONDO:0019606 simple cryoglobulinemia MONDO:0015939 Orphanet:91139 Orphanet:182228 obsolete systemic autoimmune disease +MONDO:0019606 simple cryoglobulinemia MONDO:0016178 Orphanet:91139 Orphanet:209010 obsolete peripheral neuropathy associated with monoclonal gammopathy +MONDO:0019606 simple cryoglobulinemia MONDO:0016634 Orphanet:91139 Orphanet:248365 obsolete thrombotic disorder due to an acquired coagulation factors defect +MONDO:0019608 obsolete 46,XX disorder of sex development induced by maternal-derived androgen MONDO:0020039 Orphanet:91144 Orphanet:98078 obsolete 46,XX disorder of sex development induced by androgens excess +MONDO:0019609 Zellweger spectrum disorders MONDO:0016398 Orphanet:912 Orphanet:225686 obsolete peroxisomal disease with epilepsy +MONDO:0019609 Zellweger spectrum disorders MONDO:0019743 Orphanet:912 Orphanet:93593 obsolete nephropathy secondary to a storage or other metabolic disease +MONDO:0019609 Zellweger spectrum disorders MONDO:0020234 Orphanet:912 Orphanet:98650 obsolete craniofacial anomaly with cataract +MONDO:0019609 Zellweger spectrum disorders MONDO:0035863 Orphanet:912 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0019614 pituitary deficiency due to Rathke's pouch cysts MONDO:0019833 Orphanet:91350 Orphanet:95503 obsolete pituitary hormone deficiency from tumoral origin +MONDO:0019615 pituitary dermoid and epidermoid cysts MONDO:0019833 Orphanet:91351 Orphanet:95503 obsolete pituitary hormone deficiency from tumoral origin +MONDO:0019617 pituitary deficiency due to empty sella turcica syndrome MONDO:0019834 Orphanet:91354 Orphanet:95505 obsolete pituitary hormone deficiency from meningeal origin +MONDO:0019618 Sheehan syndrome MONDO:0019841 Orphanet:91355 Orphanet:95611 obsolete pituitary hormone defiency from vascular origin +MONDO:0019618 Sheehan syndrome MONDO:8000032 Orphanet:91355 Orphanet:377789 obsolete malformation syndrome +MONDO:0019619 obsolete duplication of the esophagus MONDO:0015207 Orphanet:91357 Orphanet:108959 obsolete non-syndromic esophageal malformation +MONDO:0019620 congenital esophageal diverticulum MONDO:0015207 Orphanet:91358 Orphanet:108959 obsolete non-syndromic esophageal malformation +MONDO:0019620 congenital esophageal diverticulum MONDO:8000030 Orphanet:91358 Orphanet:377791 obsolete morphological anomaly +MONDO:0019623 hereditary angioedema MONDO:0021198 Orphanet:91378 Orphanet:98053 obsolete rare genetic disease +MONDO:0019625 familial thoracic aortic aneurysm and aortic dissection MONDO:0017311 Orphanet:91387 Orphanet:285014 obsolete rare disease with thoracic aortic aneurysm and aortic dissection +MONDO:0019626 isolated ankyloblepharon filiforme adnatum MONDO:0015501 Orphanet:91397 Orphanet:156237 obsolete syndrome or malformation associated with head and neck malformations +MONDO:0019626 isolated ankyloblepharon filiforme adnatum MONDO:0020155 Orphanet:91397 Orphanet:98564 obsolete eyelid border anomaly +MONDO:0019626 isolated ankyloblepharon filiforme adnatum MONDO:8000030 Orphanet:91397 Orphanet:377791 obsolete morphological anomaly +MONDO:0019627 isolated congenital alacrima MONDO:0020194 Orphanet:91416 Orphanet:98604 obsolete congenital alacrima +MONDO:0019628 Rieger anomaly MONDO:8000030 Orphanet:91483 Orphanet:377791 obsolete morphological anomaly +MONDO:0019629 sclerocornea MONDO:0020219 Orphanet:91490 Orphanet:98635 obsolete corneogoniodysgenesis +MONDO:0019629 sclerocornea MONDO:8000030 Orphanet:91490 Orphanet:377791 obsolete morphological anomaly +MONDO:0019630 congenital ectropion uveae MONDO:8000032 Orphanet:91491 Orphanet:377789 obsolete malformation syndrome +MONDO:0019631 persistent hyperplastic primary vitreous MONDO:0020225 Orphanet:91495 Orphanet:98641 obsolete syndromic cataract +MONDO:0019631 persistent hyperplastic primary vitreous MONDO:0034943 Orphanet:91495 Orphanet:519304 obsolete isolated vitreoretinopathy +MONDO:0019632 Lyme disease MONDO:0015575 Orphanet:91546 Orphanet:163582 obsolete rare bacterial infectious disease +MONDO:0019632 Lyme disease MONDO:0016104 Orphanet:91546 Orphanet:206613 obsolete infectious disease with peripheral neuropathy +MONDO:0019633 relapsing fever MONDO:0015575 Orphanet:91547 Orphanet:163582 obsolete rare bacterial infectious disease +MONDO:0019634 familial nasal acilia MONDO:0020017 Orphanet:922 Orphanet:98036 obsolete rare otorhinolaryngologic disease +MONDO:0019635 idiopathic achalasia MONDO:0015111 Orphanet:930 Orphanet:101936 obsolete gastroesophageal disease +MONDO:0019636 renal agenesis, unilateral MONDO:8000031 Orphanet:93100 Orphanet:557494 obsolete subtype of a disorder +MONDO:0019637 renal hypoplasia MONDO:0019720 Orphanet:93101 Orphanet:93546 obsolete non-syndromic renal or urinary tract malformation +MONDO:0019637 renal hypoplasia MONDO:8000030 Orphanet:93101 Orphanet:377791 obsolete morphological anomaly +MONDO:0019638 renal dysplasia MONDO:0019720 Orphanet:93108 Orphanet:93546 obsolete non-syndromic renal or urinary tract malformation +MONDO:0019638 renal dysplasia MONDO:8000030 Orphanet:93108 Orphanet:377791 obsolete morphological anomaly +MONDO:0019639 congenital megacalycosis MONDO:0019720 Orphanet:93109 Orphanet:93546 obsolete non-syndromic renal or urinary tract malformation +MONDO:0019639 congenital megacalycosis MONDO:8000030 Orphanet:93109 Orphanet:377791 obsolete morphological anomaly +MONDO:0019640 posterior urethral valve MONDO:8000030 Orphanet:93110 Orphanet:377791 obsolete morphological anomaly +MONDO:0019644 renal dysplasia, unilateral MONDO:8000031 Orphanet:93172 Orphanet:557494 obsolete subtype of a disorder +MONDO:0019645 renal dysplasia, bilateral MONDO:8000031 Orphanet:93173 Orphanet:557494 obsolete subtype of a disorder +MONDO:0019646 unilateral congenital megacalycosis MONDO:8000031 Orphanet:93176 Orphanet:557494 obsolete subtype of a disorder +MONDO:0019647 congenital bilateral megacalycosis MONDO:8000031 Orphanet:93177 Orphanet:557494 obsolete subtype of a disorder +MONDO:0019659 Pfeiffer syndrome type 1 MONDO:8000031 Orphanet:93258 Orphanet:557494 obsolete subtype of a disorder +MONDO:0019660 Pfeiffer syndrome type 2 MONDO:8000031 Orphanet:93259 Orphanet:557494 obsolete subtype of a disorder +MONDO:0019661 Pfeiffer syndrome type 3 MONDO:8000031 Orphanet:93260 Orphanet:557494 obsolete subtype of a disorder +MONDO:0019662 short rib-polydactyly syndrome, Majewski type MONDO:8000032 Orphanet:93269 Orphanet:377789 obsolete malformation syndrome +MONDO:0019665 monostotic fibrous dysplasia MONDO:8000031 Orphanet:93277 Orphanet:557494 obsolete subtype of a disorder +MONDO:0019666 spondyloepimetaphyseal dysplasia, PAPSS2 type MONDO:0019688 Orphanet:93282 Orphanet:93423 obsolete sulfation-related bone disorder +MONDO:0019668 adenoma of pancreas MONDO:0015621 Orphanet:93292 Orphanet:165711 obsolete rare abdominal surgical disease +MONDO:0019668 adenoma of pancreas MONDO:0018520 Orphanet:93292 Orphanet:424033 obsolete rare epithelial tumor of pancreas +MONDO:0019669 hypochondrogenesis MONDO:8000031 Orphanet:93297 Orphanet:557494 obsolete subtype of a disorder +MONDO:0019670 ulnar hemimelia MONDO:8000030 Orphanet:93320 Orphanet:377791 obsolete morphological anomaly +MONDO:0019671 radial hemimelia MONDO:8000030 Orphanet:93321 Orphanet:377791 obsolete morphological anomaly +MONDO:0019672 fibular hemimelia MONDO:8000030 Orphanet:93323 Orphanet:377791 obsolete morphological anomaly +MONDO:0019673 postaxial polydactyly type A MONDO:0034670 Orphanet:93334 Orphanet:498467 obsolete non-syndromic postaxial polydactyly +MONDO:0019673 postaxial polydactyly type A MONDO:8000030 Orphanet:93334 Orphanet:377791 obsolete morphological anomaly +MONDO:0019674 postaxial polydactyly type B MONDO:0034670 Orphanet:93335 Orphanet:498467 obsolete non-syndromic postaxial polydactyly +MONDO:0019674 postaxial polydactyly type B MONDO:8000030 Orphanet:93335 Orphanet:377791 obsolete morphological anomaly +MONDO:0019676 brachydactyly type B MONDO:0800093 Orphanet:93383 Orphanet:498451 obsolete dysostosis with brachydactyly without extraskeletal manifestations +MONDO:0019676 brachydactyly type B MONDO:8000032 Orphanet:93383 Orphanet:377789 obsolete malformation syndrome +MONDO:0019677 brachydactyly type E MONDO:0800093 Orphanet:93387 Orphanet:498451 obsolete dysostosis with brachydactyly without extraskeletal manifestations +MONDO:0019677 brachydactyly type E MONDO:8000032 Orphanet:93387 Orphanet:377789 obsolete malformation syndrome +MONDO:0019679 brachydactyly type A7 MONDO:0800093 Orphanet:93397 Orphanet:498451 obsolete dysostosis with brachydactyly without extraskeletal manifestations +MONDO:0019679 brachydactyly type A7 MONDO:8000032 Orphanet:93397 Orphanet:377789 obsolete malformation syndrome +MONDO:0019680 genochondromatosis type 2 MONDO:0800089 Orphanet:93398 Orphanet:93450 obsolete primary bone dysplasia with disorganized development of skeletal components +MONDO:0019681 juvenile sialidosis type 2 MONDO:8000031 Orphanet:93399 Orphanet:557494 obsolete subtype of a disorder +MONDO:0019682 congenital sialidosis type 2 MONDO:8000031 Orphanet:93400 Orphanet:557494 obsolete subtype of a disorder +MONDO:0019684 obsolete rare bone disease MONDO:8000033 Orphanet:93419 Orphanet:557492 obsolete group of disorders +MONDO:0019685 FGFR3-related chondrodysplasia MONDO:0031799 Orphanet:93420 Orphanet:364803 obsolete rare bone disease related to a common gene or pathway defect +MONDO:0019688 obsolete sulfation-related bone disorder MONDO:0031799 Orphanet:93423 Orphanet:364803 obsolete rare bone disease related to a common gene or pathway defect +MONDO:0019689 obsolete perlecan-related bone disorder MONDO:0031799 Orphanet:93424 Orphanet:364803 obsolete rare bone disease related to a common gene or pathway defect +MONDO:0019690 filamin-related bone disorder MONDO:0031799 Orphanet:93425 Orphanet:364803 obsolete rare bone disease related to a common gene or pathway defect +MONDO:0019691 short rib dysplasia MONDO:0031799 Orphanet:93426 Orphanet:364803 obsolete rare bone disease related to a common gene or pathway defect +MONDO:0019692 obsolete multiple epiphyseal dysplasia and pseudoachondroplasia MONDO:0018230 Orphanet:93429 Orphanet:364526 skeletal dysplasia +MONDO:0019693 obsolete multiple metaphyseal dysplasia MONDO:0018230 Orphanet:93430 Orphanet:364526 skeletal dysplasia +MONDO:0019697 obsolete mesomelic and rhizo-mesomelic dysplasia MONDO:0018230 Orphanet:93438 Orphanet:364526 skeletal dysplasia +MONDO:0019699 obsolete slender bone dysplasia MONDO:0018230 Orphanet:93440 Orphanet:364526 skeletal dysplasia +MONDO:0019702 neonatal osteosclerotic dysplasia MONDO:0800084 Orphanet:93443 Orphanet:93444 obsolete primary bone dysplasia with increased bone density +MONDO:0019704 obsolete primary bone dysplasia with decreased bone density MONDO:0018230 Orphanet:93446 Orphanet:364526 skeletal dysplasia +MONDO:0019705 obsolete primary bone dysplasia with defective bone mineralization MONDO:0018230 Orphanet:93447 Orphanet:364526 skeletal dysplasia +MONDO:0019709 obsolete cleidocranial dysplasia and isolated cranial ossification defect MONDO:0018230 Orphanet:93451 Orphanet:364526 skeletal dysplasia +MONDO:0019711 obsolete dysostosis with predominant vertebral and costal involvement MONDO:0018234 Orphanet:93454 Orphanet:364559 dysostosis +MONDO:0019711 obsolete dysostosis with predominant vertebral and costal involvement MONDO:0018454 Orphanet:93454 Orphanet:404568 obsolete dysostosis of genetic origin +MONDO:0019712 obsolete patellar dysostosis MONDO:0018234 Orphanet:93455 Orphanet:364559 dysostosis +MONDO:0019712 obsolete patellar dysostosis MONDO:0018454 Orphanet:93455 Orphanet:404568 obsolete dysostosis of genetic origin +MONDO:0019713 non-syndromic limb reduction defect MONDO:0015227 Orphanet:93457 Orphanet:109011 obsolete non-syndromic limb malformation +MONDO:0019713 non-syndromic limb reduction defect MONDO:0018235 Orphanet:93457 Orphanet:364568 obsolete dysostosis with limb anomaly as a major feature +MONDO:0019713 non-syndromic limb reduction defect MONDO:0018455 Orphanet:93457 Orphanet:404571 obsolete dysostosis of genetic origin with limb anomaly as a major feature +MONDO:0019714 obsolete non-syndromic polydactyly, syndactyly and/or hyperphalangy MONDO:0015227 Orphanet:93458 Orphanet:109011 obsolete non-syndromic limb malformation +MONDO:0019714 obsolete non-syndromic polydactyly, syndactyly and/or hyperphalangy MONDO:0018235 Orphanet:93458 Orphanet:364568 obsolete dysostosis with limb anomaly as a major feature +MONDO:0019714 obsolete non-syndromic polydactyly, syndactyly and/or hyperphalangy MONDO:0018455 Orphanet:93458 Orphanet:404571 obsolete dysostosis of genetic origin with limb anomaly as a major feature +MONDO:0019716 overgrowth syndrome MONDO:0015330 Orphanet:93460 Orphanet:139024 obsolete overgrowth/obesity syndrome +MONDO:0019716 overgrowth syndrome MONDO:0026188 Orphanet:93460 Orphanet:183573 obsolete genetic overgrowth/obesity syndrome +MONDO:0019717 obsolete chromosomal disease with overgrowth MONDO:0019716 Orphanet:93461 Orphanet:93460 overgrowth syndrome +MONDO:0019718 obsolete lethal chondrodysplasia MONDO:0018230 Orphanet:93465 Orphanet:364526 skeletal dysplasia +MONDO:0019719 congenital anomaly of kidney and urinary tract MONDO:0019750 Orphanet:93545 Orphanet:93626 obsolete rare renal disease +MONDO:0019720 obsolete non-syndromic renal or urinary tract malformation MONDO:0019719 Orphanet:93546 Orphanet:93545 congenital anomaly of kidney and urinary tract +MONDO:0019721 obsolete syndromic renal or urinary tract malformation MONDO:0019719 Orphanet:93547 Orphanet:93545 congenital anomaly of kidney and urinary tract +MONDO:0019721 obsolete syndromic renal or urinary tract malformation MONDO:0026181 Orphanet:93547 Orphanet:183539 obsolete genetic renal or urinary tract malformation +MONDO:0019722 glomerular disorder MONDO:0019750 Orphanet:93548 Orphanet:93626 obsolete rare renal disease +MONDO:0019725 pediatric systemic lupus erythematosus MONDO:0015657 Orphanet:93552 Orphanet:166484 obsolete inflammatory and autoimmune disease with epilepsy +MONDO:0019725 pediatric systemic lupus erythematosus MONDO:0015939 Orphanet:93552 Orphanet:182228 obsolete systemic autoimmune disease +MONDO:0019725 pediatric systemic lupus erythematosus MONDO:0017021 Orphanet:93552 Orphanet:264704 obsolete secondary interstitial lung disease specific to childhood associated with a connective tissue disease +MONDO:0019726 type II mixed cryoglobulinemia MONDO:8000031 Orphanet:93554 Orphanet:557494 obsolete subtype of a disorder +MONDO:0019727 mixed cryoglobulinemia type III MONDO:8000031 Orphanet:93555 Orphanet:557494 obsolete subtype of a disorder +MONDO:0019728 heavy chain deposition disease MONDO:8000031 Orphanet:93556 Orphanet:557494 obsolete subtype of a disorder +MONDO:0019729 light and heavy chain deposition disease MONDO:8000031 Orphanet:93557 Orphanet:557494 obsolete subtype of a disorder +MONDO:0019730 light chain deposition disease MONDO:8000031 Orphanet:93558 Orphanet:557494 obsolete subtype of a disorder +MONDO:0019731 AApoAI amyloidosis MONDO:8000031 Orphanet:93560 Orphanet:557494 obsolete subtype of a disorder +MONDO:0019732 ALys amyloidosis MONDO:8000031 Orphanet:93561 Orphanet:557494 obsolete subtype of a disorder +MONDO:0019733 AFib amyloidosis MONDO:8000031 Orphanet:93562 Orphanet:557494 obsolete subtype of a disorder +MONDO:0019734 juvenile polymyositis MONDO:0017021 Orphanet:93568 Orphanet:264704 obsolete secondary interstitial lung disease specific to childhood associated with a connective tissue disease +MONDO:0019735 polymyalgia rheumatica MONDO:0015940 Orphanet:93569 Orphanet:182231 obsolete rare rheumatologic disease +MONDO:0019737 thrombotic microangiopathy MONDO:0019750 Orphanet:93573 Orphanet:93626 obsolete rare renal disease +MONDO:0019739 atypical hemolytic-uremic syndrome with anti-factor H antibodies MONDO:8000031 Orphanet:93581 Orphanet:557494 obsolete subtype of a disorder +MONDO:0019740 acquired thrombotic thrombocytopenic purpura MONDO:8000031 Orphanet:93585 Orphanet:557494 obsolete subtype of a disorder +MONDO:0019741 familial cystic renal disease MONDO:0019750 Orphanet:93587 Orphanet:93626 obsolete rare renal disease +MONDO:0019741 familial cystic renal disease MONDO:0020030 Orphanet:93587 Orphanet:98056 obsolete rare genetic renal disease +MONDO:0019742 late-onset nephronophthisis MONDO:8000031 Orphanet:93589 Orphanet:557494 obsolete subtype of a disorder +MONDO:0019743 obsolete nephropathy secondary to a storage or other metabolic disease MONDO:0019750 Orphanet:93593 Orphanet:93626 obsolete rare renal disease +MONDO:0019743 obsolete nephropathy secondary to a storage or other metabolic disease MONDO:0020030 Orphanet:93593 Orphanet:98056 obsolete rare genetic renal disease +MONDO:0019744 obsolete rare renal tubular disease MONDO:0019750 Orphanet:93603 Orphanet:93626 obsolete rare renal disease +MONDO:0019745 cystinuria type A MONDO:8000031 Orphanet:93612 Orphanet:557494 obsolete subtype of a disorder +MONDO:0019746 cystinuria type B MONDO:8000031 Orphanet:93613 Orphanet:557494 obsolete subtype of a disorder +MONDO:0019747 obsolete hematological disorder with renal involvement MONDO:0019750 Orphanet:93614 Orphanet:93626 obsolete rare renal disease +MONDO:0019747 obsolete hematological disorder with renal involvement MONDO:0020030 Orphanet:93614 Orphanet:98056 obsolete rare genetic renal disease +MONDO:0019748 obsolete rare cause of hypertension MONDO:0019750 Orphanet:93618 Orphanet:93626 obsolete rare renal disease +MONDO:0019749 obsolete rare renal tumor MONDO:0019750 Orphanet:93619 Orphanet:93626 obsolete rare renal disease +MONDO:0019749 obsolete rare renal tumor MONDO:0020031 Orphanet:93619 Orphanet:98057 obsolete rare tumor +MONDO:0019750 obsolete rare renal disease MONDO:8000033 Orphanet:93626 Orphanet:557492 obsolete group of disorders +MONDO:0019751 autoinflammatory syndrome MONDO:0015940 Orphanet:93665 Orphanet:182231 obsolete rare rheumatologic disease +MONDO:0019753 localized Castleman disease MONDO:8000031 Orphanet:93685 Orphanet:557494 obsolete subtype of a disorder +MONDO:0019754 multicentric Castleman disease MONDO:8000031 Orphanet:570438 Orphanet:557494 obsolete subtype of a disorder +MONDO:0019755 developmental defect during embryogenesis MONDO:8000033 Orphanet:93890 Orphanet:557492 obsolete group of disorders +MONDO:0019756 lobar holoprosencephaly MONDO:8000031 Orphanet:93924 Orphanet:557494 obsolete subtype of a disorder +MONDO:0019757 alobar holoprosencephaly MONDO:8000031 Orphanet:93925 Orphanet:557494 obsolete subtype of a disorder +MONDO:0019758 obsolete midline interhemispheric variant of holoprosencephaly MONDO:0016296 Orphanet:93926 Orphanet:2162 holoprosencephaly +MONDO:0019758 obsolete midline interhemispheric variant of holoprosencephaly MONDO:8000031 Orphanet:93926 Orphanet:557494 obsolete subtype of a disorder +MONDO:0019759 epispadias MONDO:8000031 Orphanet:93928 Orphanet:557494 obsolete subtype of a disorder +MONDO:0019761 laryngotracheoesophageal cleft type 1 MONDO:8000031 Orphanet:93938 Orphanet:557494 obsolete subtype of a disorder +MONDO:0019762 laryngotracheoesophageal cleft type 2 MONDO:8000031 Orphanet:93939 Orphanet:557494 obsolete subtype of a disorder +MONDO:0019763 laryngotracheoesophageal cleft type 3 MONDO:8000031 Orphanet:93940 Orphanet:557494 obsolete subtype of a disorder +MONDO:0019764 laryngotracheoesophageal cleft type 4 MONDO:8000031 Orphanet:93941 Orphanet:557494 obsolete subtype of a disorder +MONDO:0019766 X-linked intellectual disability, Porteous type MONDO:8000031 Orphanet:93945 Orphanet:557494 obsolete subtype of a disorder +MONDO:0019767 hamel cerebro-palato-cardiac syndrome MONDO:8000031 Orphanet:93946 Orphanet:557494 obsolete subtype of a disorder +MONDO:0019768 X-linked intellectual disability, Golabi-Ito-hall type MONDO:8000031 Orphanet:93947 Orphanet:557494 obsolete subtype of a disorder +MONDO:0019769 X-linked intellectual disability, Sutherland-Haan type MONDO:8000031 Orphanet:93950 Orphanet:557494 obsolete subtype of a disorder +MONDO:0019773 myelomeningocele MONDO:8000030 Orphanet:93969 Orphanet:377791 obsolete morphological anomaly +MONDO:0019780 anotia MONDO:0015502 Orphanet:93976 Orphanet:156243 obsolete pinnae and external auditory canal anomaly +MONDO:0019780 anotia MONDO:8000030 Orphanet:93976 Orphanet:377791 obsolete morphological anomaly +MONDO:0019782 humero-ulnar synostosis MONDO:0017429 Orphanet:94056 Orphanet:294949 obsolete joint formation defects +MONDO:0019782 humero-ulnar synostosis MONDO:8000030 Orphanet:94056 Orphanet:377791 obsolete morphological anomaly +MONDO:0019783 neovascular glaucoma MONDO:0020216 Orphanet:94058 Orphanet:98631 obsolete secondary dysgenetic glaucoma +MONDO:0019783 neovascular glaucoma MONDO:0032014 Orphanet:94058 Orphanet:377793 obsolete particular clinical situation in a disease or syndrome +MONDO:0019784 12q14 microdeletion syndrome MONDO:0035863 Orphanet:94063 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0019784 12q14 microdeletion syndrome MONDO:8000032 Orphanet:94063 Orphanet:377789 obsolete malformation syndrome +MONDO:0019786 severe intellectual disability-epilepsy-anal anomalies-distal phalangeal hypoplasia MONDO:0035863 Orphanet:94066 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0019786 severe intellectual disability-epilepsy-anal anomalies-distal phalangeal hypoplasia MONDO:8000032 Orphanet:94066 Orphanet:377789 obsolete malformation syndrome +MONDO:0019787 autoimmune enteropathy MONDO:0015245 Orphanet:94075 Orphanet:117569 obsolete rare intestinal disease +MONDO:0019790 neuroleptic malignant syndrome MONDO:0018753 Orphanet:94093 Orphanet:466658 obsolete rare disease with malignant hyperthermia +MONDO:0019795 acalvaria MONDO:0020018 Orphanet:945 Orphanet:98038 obsolete cranial malformation +MONDO:0019795 acalvaria MONDO:8000032 Orphanet:945 Orphanet:377789 obsolete malformation syndrome +MONDO:0019797 acrodysostosis MONDO:8000032 Orphanet:950 Orphanet:377789 obsolete malformation syndrome +MONDO:0019799 hepatoerythropoietic porphyria MONDO:0019800 Orphanet:95159 Orphanet:95161 obsolete chronic hepatic porphyria +MONDO:0019800 obsolete chronic hepatic porphyria MONDO:0015115 Orphanet:95161 Orphanet:101940 obsolete rare genetic metabolic liver disease +MONDO:0019800 obsolete chronic hepatic porphyria MONDO:0019142 Orphanet:95161 Orphanet:738 inherited porphyria +MONDO:0019801 acute adrenal insufficiency MONDO:0032013 Orphanet:95409 Orphanet:377792 obsolete clinical syndrome +MONDO:0019803 angioma serpiginosum MONDO:0015948 Orphanet:95429 Orphanet:183478 obsolete rare genetic skin vascular disorder +MONDO:0019804 tracheomalacia MONDO:0015221 Orphanet:95430 Orphanet:108993 obsolete non-syndromic respiratory or mediastinal malformation +MONDO:0019804 tracheomalacia MONDO:0015505 Orphanet:95430 Orphanet:156252 obsolete tracheal anomaly +MONDO:0019804 tracheomalacia MONDO:0015930 Orphanet:95430 Orphanet:182111 obsolete respiratory malformation +MONDO:0019804 tracheomalacia MONDO:0033336 Orphanet:95430 Orphanet:435612 obsolete genetic tracheal anomaly +MONDO:0019804 tracheomalacia MONDO:8000030 Orphanet:95430 Orphanet:377791 obsolete morphological anomaly +MONDO:0019805 twin to twin transfusion syndrome MONDO:0020008 Orphanet:95431 Orphanet:98004 obsolete rare immune disease +MONDO:0019806 primary progressive aphasia MONDO:0020136 Orphanet:95432 Orphanet:98534 obsolete neurodegenerative disease with dementia +MONDO:0019807 mesocardia MONDO:0020284 Orphanet:95443 Orphanet:98716 obsolete heart position anomaly +MONDO:0019807 mesocardia MONDO:8000030 Orphanet:95443 Orphanet:377791 obsolete morphological anomaly +MONDO:0019808 aortic valve atresia MONDO:8000031 Orphanet:95448 Orphanet:557494 obsolete subtype of a disorder +MONDO:0019811 tricuspid valve agenesis MONDO:8000030 Orphanet:95457 Orphanet:377791 obsolete morphological anomaly +MONDO:0019813 congenital tricuspid stenosis MONDO:8000030 Orphanet:95459 Orphanet:377791 obsolete morphological anomaly +MONDO:0019814 straddling or overriding tricuspid valve MONDO:8000030 Orphanet:95461 Orphanet:377791 obsolete morphological anomaly +MONDO:0019815 accessory tricuspid valve tissue MONDO:8000030 Orphanet:95462 Orphanet:377791 obsolete morphological anomaly +MONDO:0019816 obsolete anomaly of the tricuspid subvalvular apparatus MONDO:0020289 Orphanet:95463 Orphanet:98721 congenital tricuspid malformation +MONDO:0019818 cleft mitral valve MONDO:8000030 Orphanet:95465 Orphanet:377791 obsolete morphological anomaly +MONDO:0019819 double-orifice mitral valve MONDO:8000031 Orphanet:95474 Orphanet:557494 obsolete subtype of a disorder +MONDO:0019822 obsolete arterial duct anomaly MONDO:0020292 Orphanet:95485 Orphanet:98724 congenital anomaly of the great arteries +MONDO:0019823 premature closure of the arterial duct MONDO:0019822 Orphanet:95486 Orphanet:95485 obsolete arterial duct anomaly +MONDO:0019823 premature closure of the arterial duct MONDO:8000030 Orphanet:95486 Orphanet:377791 obsolete morphological anomaly +MONDO:0019824 non-acquired pituitary hormone deficiency MONDO:0019590 Orphanet:95488 Orphanet:90692 obsolete rare endocrine growth disease +MONDO:0019825 congenital coronary artery aneurysm MONDO:8000030 Orphanet:95491 Orphanet:377791 obsolete morphological anomaly +MONDO:0019827 obsolete disease associated with non-acquired combined pituitary hormone deficiency MONDO:0018762 Orphanet:95495 Orphanet:467 non-acquired combined pituitary hormone deficiency +MONDO:0019828 pituitary stalk interruption syndrome MONDO:0035862 Orphanet:95496 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome +MONDO:0019828 pituitary stalk interruption syndrome MONDO:8000030 Orphanet:95496 Orphanet:377791 obsolete morphological anomaly +MONDO:0019829 congenital anomaly of superior vena cava MONDO:0017710 Orphanet:95498 Orphanet:3091 obsolete congenital systemic veins anomaly +MONDO:0019830 congenital anomaly of the inferior vena cava MONDO:0017710 Orphanet:95499 Orphanet:3091 obsolete congenital systemic veins anomaly +MONDO:0019831 obsolete congenital anomaly of the coronary sinus MONDO:0017710 Orphanet:95500 Orphanet:3091 obsolete congenital systemic veins anomaly +MONDO:0019833 obsolete pituitary hormone deficiency from tumoral origin MONDO:0019832 Orphanet:95503 Orphanet:95502 acquired pituitary hormone deficiency +MONDO:0019834 obsolete pituitary hormone deficiency from meningeal origin MONDO:0019832 Orphanet:95505 Orphanet:95502 acquired pituitary hormone deficiency +MONDO:0019836 congenital anomaly of hepatic vein MONDO:0015113 Orphanet:95507 Orphanet:101938 obsolete rare vascular liver disease +MONDO:0019836 congenital anomaly of hepatic vein MONDO:0017710 Orphanet:95507 Orphanet:3091 obsolete congenital systemic veins anomaly +MONDO:0019836 congenital anomaly of hepatic vein MONDO:8000030 Orphanet:95507 Orphanet:377791 obsolete morphological anomaly +MONDO:0019837 obsolete atrial appendage anomaly MONDO:0020294 Orphanet:95510 Orphanet:98727 obsolete atrial defect and interatrial communication +MONDO:0019841 obsolete pituitary hormone defiency from vascular origin MONDO:0019832 Orphanet:95611 Orphanet:95502 acquired pituitary hormone deficiency +MONDO:0019843 obsolete pituitary hormone deficiency secondary to a granulomatous disease MONDO:0019832 Orphanet:95617 Orphanet:95502 acquired pituitary hormone deficiency +MONDO:0019844 obsolete pituitary hormone deficiency secondary to storage disease MONDO:0019832 Orphanet:95618 Orphanet:95502 acquired pituitary hormone deficiency +MONDO:0019846 acquired central diabetes insipidus MONDO:8000031 Orphanet:95626 Orphanet:557494 obsolete subtype of a disorder +MONDO:0019848 posterior hypospadias MONDO:0015933 Orphanet:95706 Orphanet:182121 obsolete non-syndromic urogenital tract malformation of male +MONDO:0019848 posterior hypospadias MONDO:0024987 Orphanet:95706 Orphanet:156622 obsolete genetic urogenital tract malformation +MONDO:0019848 posterior hypospadias MONDO:8000030 Orphanet:95706 Orphanet:377791 obsolete morphological anomaly +MONDO:0019849 isolated micropenis MONDO:0015933 Orphanet:95707 Orphanet:182121 obsolete non-syndromic urogenital tract malformation of male +MONDO:0019849 isolated micropenis MONDO:8000030 Orphanet:95707 Orphanet:377791 obsolete morphological anomaly +MONDO:0019851 acquired primary ovarian failure MONDO:0015860 Orphanet:95709 Orphanet:180208 obsolete anomaly of puberty or/and menstrual cycle +MONDO:0019851 acquired primary ovarian failure MONDO:0019590 Orphanet:95709 Orphanet:90692 obsolete rare endocrine growth disease +MONDO:0019852 inherited primary ovarian failure MONDO:0015860 Orphanet:95710 Orphanet:180208 obsolete anomaly of puberty or/and menstrual cycle +MONDO:0019852 inherited primary ovarian failure MONDO:0019590 Orphanet:95710 Orphanet:90692 obsolete rare endocrine growth disease +MONDO:0019853 obsolete congenital hypothyroidism due to developmental anomaly MONDO:0016409 Orphanet:95711 Orphanet:226295 obsolete primary congenital hypothyroidism +MONDO:0019854 thyroid ectopia MONDO:0019853 Orphanet:95712 Orphanet:95711 obsolete congenital hypothyroidism due to developmental anomaly +MONDO:0019854 thyroid ectopia MONDO:8000030 Orphanet:95712 Orphanet:377791 obsolete morphological anomaly +MONDO:0019855 athyreosis MONDO:0019853 Orphanet:95713 Orphanet:95711 obsolete congenital hypothyroidism due to developmental anomaly +MONDO:0019855 athyreosis MONDO:8000030 Orphanet:95713 Orphanet:377791 obsolete morphological anomaly +MONDO:0019856 obsolete primary congenital hypothyroidism without thyroid developmental anomaly MONDO:0016409 Orphanet:95714 Orphanet:226295 obsolete primary congenital hypothyroidism +MONDO:0019858 idiopathic congenital hypothyroidism MONDO:0019856 Orphanet:95717 Orphanet:95714 obsolete primary congenital hypothyroidism without thyroid developmental anomaly +MONDO:0019859 obsolete congenital thyroid malformation without hypothyroidism MONDO:0015125 Orphanet:95718 Orphanet:101955 obsolete rare thyroid disease +MONDO:0019860 thyroid hemiagenesis MONDO:0019853 Orphanet:95719 Orphanet:95711 obsolete congenital hypothyroidism due to developmental anomaly +MONDO:0019860 thyroid hemiagenesis MONDO:0019859 Orphanet:95719 Orphanet:95718 obsolete congenital thyroid malformation without hypothyroidism +MONDO:0019860 thyroid hemiagenesis MONDO:8000030 Orphanet:95719 Orphanet:377791 obsolete morphological anomaly +MONDO:0019861 thyroid hypoplasia MONDO:0019853 Orphanet:95720 Orphanet:95711 obsolete congenital hypothyroidism due to developmental anomaly +MONDO:0019861 thyroid hypoplasia MONDO:0019859 Orphanet:95720 Orphanet:95718 obsolete congenital thyroid malformation without hypothyroidism +MONDO:0019861 thyroid hypoplasia MONDO:8000030 Orphanet:95720 Orphanet:377791 obsolete morphological anomaly +MONDO:0019862 levocardia MONDO:8000030 Orphanet:95854 Orphanet:377791 obsolete morphological anomaly +MONDO:0019864 tetrasomy 21 MONDO:0020052 Orphanet:96055 Orphanet:98132 obsolete partial autosomal trisomy/tetrasomy +MONDO:0019864 tetrasomy 21 MONDO:8000032 Orphanet:96055 Orphanet:377789 obsolete malformation syndrome +MONDO:0019865 mosaic trisomy 4 MONDO:0020051 Orphanet:96059 Orphanet:98131 obsolete total autosomal trisomy +MONDO:0019865 mosaic trisomy 4 MONDO:8000032 Orphanet:96059 Orphanet:377789 obsolete malformation syndrome +MONDO:0019866 mosaic trisomy 5 MONDO:0020051 Orphanet:96060 Orphanet:98131 obsolete total autosomal trisomy +MONDO:0019866 mosaic trisomy 5 MONDO:8000032 Orphanet:96060 Orphanet:377789 obsolete malformation syndrome +MONDO:0019867 mosaic trisomy 8 MONDO:0020051 Orphanet:96061 Orphanet:98131 obsolete total autosomal trisomy +MONDO:0019867 mosaic trisomy 8 MONDO:8000032 Orphanet:96061 Orphanet:377789 obsolete malformation syndrome +MONDO:0019868 mosaic trisomy 10 MONDO:0020051 Orphanet:96063 Orphanet:98131 obsolete total autosomal trisomy +MONDO:0019868 mosaic trisomy 10 MONDO:8000032 Orphanet:96063 Orphanet:377789 obsolete malformation syndrome +MONDO:0019869 mosaic trisomy 22 MONDO:0020051 Orphanet:96068 Orphanet:98131 obsolete total autosomal trisomy +MONDO:0019869 mosaic trisomy 22 MONDO:8000032 Orphanet:96068 Orphanet:377789 obsolete malformation syndrome +MONDO:0019870 distal trisomy 1p36 MONDO:8000032 Orphanet:96069 Orphanet:377789 obsolete malformation syndrome +MONDO:0019871 distal trisomy 2p MONDO:0020226 Orphanet:96070 Orphanet:98642 obsolete chromosomal anomaly with cataract +MONDO:0019871 distal trisomy 2p MONDO:8000032 Orphanet:96070 Orphanet:377789 obsolete malformation syndrome +MONDO:0019872 distal trisomy 3p MONDO:8000032 Orphanet:96071 Orphanet:377789 obsolete malformation syndrome +MONDO:0019873 4p16.3 microduplication syndrome MONDO:0019717 Orphanet:96072 Orphanet:93461 obsolete chromosomal disease with overgrowth +MONDO:0019873 4p16.3 microduplication syndrome MONDO:8000032 Orphanet:96072 Orphanet:377789 obsolete malformation syndrome +MONDO:0019874 distal trisomy 7p MONDO:8000032 Orphanet:96074 Orphanet:377789 obsolete malformation syndrome +MONDO:0019875 Beckwith-Wiedemann syndrome due to 11p15 microduplication MONDO:8000031 Orphanet:96076 Orphanet:557494 obsolete subtype of a disorder +MONDO:0019876 8p inverted duplication/deletion syndrome MONDO:0016998 Orphanet:96092 Orphanet:263708 obsolete complex chromosomal rearrangement +MONDO:0019876 8p inverted duplication/deletion syndrome MONDO:8000032 Orphanet:96092 Orphanet:377789 obsolete malformation syndrome +MONDO:0019877 distal trisomy 2q MONDO:8000032 Orphanet:96094 Orphanet:377789 obsolete malformation syndrome +MONDO:0019878 3q26 microduplication syndrome MONDO:0020226 Orphanet:96095 Orphanet:98642 obsolete chromosomal anomaly with cataract +MONDO:0019878 3q26 microduplication syndrome MONDO:8000032 Orphanet:96095 Orphanet:377789 obsolete malformation syndrome +MONDO:0019879 distal trisomy 4q MONDO:8000032 Orphanet:96096 Orphanet:377789 obsolete malformation syndrome +MONDO:0019880 distal trisomy 5q MONDO:8000032 Orphanet:96097 Orphanet:377789 obsolete malformation syndrome +MONDO:0019881 distal trisomy 6q MONDO:8000032 Orphanet:96098 Orphanet:377789 obsolete malformation syndrome +MONDO:0019882 distal trisomy 8q MONDO:8000032 Orphanet:96100 Orphanet:377789 obsolete malformation syndrome +MONDO:0019883 distal trisomy 9q MONDO:8000032 Orphanet:96101 Orphanet:377789 obsolete malformation syndrome +MONDO:0019884 distal trisomy 10q MONDO:0020226 Orphanet:96102 Orphanet:98642 obsolete chromosomal anomaly with cataract +MONDO:0019884 distal trisomy 10q MONDO:8000032 Orphanet:96102 Orphanet:377789 obsolete malformation syndrome +MONDO:0019885 distal trisomy 11q MONDO:8000032 Orphanet:96103 Orphanet:377789 obsolete malformation syndrome +MONDO:0019886 distal trisomy 13q MONDO:8000032 Orphanet:96105 Orphanet:377789 obsolete malformation syndrome +MONDO:0019887 distal trisomy 16q MONDO:8000032 Orphanet:96106 Orphanet:377789 obsolete malformation syndrome +MONDO:0019888 distal trisomy 20q MONDO:8000032 Orphanet:96107 Orphanet:377789 obsolete malformation syndrome +MONDO:0019889 distal trisomy 22q MONDO:8000032 Orphanet:96109 Orphanet:377789 obsolete malformation syndrome +MONDO:0019890 non-distal trisomy 9q MONDO:8000032 Orphanet:96112 Orphanet:377789 obsolete malformation syndrome +MONDO:0019891 monosomy 22 MONDO:0020053 Orphanet:96123 Orphanet:98141 obsolete total autosomal monosomy +MONDO:0019891 monosomy 22 MONDO:8000032 Orphanet:96123 Orphanet:377789 obsolete malformation syndrome +MONDO:0019892 distal monosomy 7p MONDO:8000032 Orphanet:96126 Orphanet:377789 obsolete malformation syndrome +MONDO:0019893 distal monosomy 19p13.3 MONDO:8000032 Orphanet:96129 Orphanet:377789 obsolete malformation syndrome +MONDO:0019895 distal monosomy 4q MONDO:8000032 Orphanet:96145 Orphanet:377789 obsolete malformation syndrome +MONDO:0019896 Kleefstra syndrome due to 9q34 microdeletion MONDO:0015652 Orphanet:96147 Orphanet:166469 obsolete chromosomal anomaly with epilepsy as a major feature +MONDO:0019896 Kleefstra syndrome due to 9q34 microdeletion MONDO:8000031 Orphanet:96147 Orphanet:557494 obsolete subtype of a disorder +MONDO:0019897 distal monosomy 12q MONDO:8000032 Orphanet:96149 Orphanet:377789 obsolete malformation syndrome +MONDO:0019898 distal monosomy 14q MONDO:8000032 Orphanet:96150 Orphanet:377789 obsolete malformation syndrome +MONDO:0019900 non-distal monosomy 12q MONDO:8000032 Orphanet:96160 Orphanet:377789 obsolete malformation syndrome +MONDO:0019902 monosomy 13q34 MONDO:0020226 Orphanet:96168 Orphanet:98642 obsolete chromosomal anomaly with cataract +MONDO:0019902 monosomy 13q34 MONDO:8000032 Orphanet:96168 Orphanet:377789 obsolete malformation syndrome +MONDO:0019903 ring chromosome 2 MONDO:0018186 Orphanet:96171 Orphanet:363203 obsolete ring chromosome +MONDO:0019903 ring chromosome 2 MONDO:8000032 Orphanet:96171 Orphanet:377789 obsolete malformation syndrome +MONDO:0019904 ring chromosome 3 MONDO:0018186 Orphanet:96172 Orphanet:363203 obsolete ring chromosome +MONDO:0019904 ring chromosome 3 MONDO:8000032 Orphanet:96172 Orphanet:377789 obsolete malformation syndrome +MONDO:0019905 ring chromosome 9 MONDO:0018186 Orphanet:96173 Orphanet:363203 obsolete ring chromosome +MONDO:0019905 ring chromosome 9 MONDO:8000032 Orphanet:96173 Orphanet:377789 obsolete malformation syndrome +MONDO:0019906 ring chromosome 11 MONDO:0018186 Orphanet:96175 Orphanet:363203 obsolete ring chromosome +MONDO:0019906 ring chromosome 11 MONDO:8000032 Orphanet:96175 Orphanet:377789 obsolete malformation syndrome +MONDO:0019907 ring chromosome 13 MONDO:0015246 Orphanet:96176 Orphanet:117573 obsolete syndromic anorectal malformation +MONDO:0019907 ring chromosome 13 MONDO:0018186 Orphanet:96176 Orphanet:363203 obsolete ring chromosome +MONDO:0019907 ring chromosome 13 MONDO:8000032 Orphanet:96176 Orphanet:377789 obsolete malformation syndrome +MONDO:0019908 ring chromosome 15 MONDO:0018186 Orphanet:96177 Orphanet:363203 obsolete ring chromosome +MONDO:0019908 ring chromosome 15 MONDO:8000032 Orphanet:96177 Orphanet:377789 obsolete malformation syndrome +MONDO:0019909 ring chromosome 16 MONDO:0018186 Orphanet:96178 Orphanet:363203 obsolete ring chromosome +MONDO:0019909 ring chromosome 16 MONDO:8000032 Orphanet:96178 Orphanet:377789 obsolete malformation syndrome +MONDO:0019910 maternal uniparental disomy of chromosome 2 MONDO:0020056 Orphanet:96179 Orphanet:98153 obsolete uniparental disomy of maternal origin +MONDO:0019910 maternal uniparental disomy of chromosome 2 MONDO:8000032 Orphanet:96179 Orphanet:377789 obsolete malformation syndrome +MONDO:0019911 maternal uniparental disomy of chromosome 4 MONDO:0020056 Orphanet:96180 Orphanet:98153 obsolete uniparental disomy of maternal origin +MONDO:0019911 maternal uniparental disomy of chromosome 4 MONDO:8000032 Orphanet:96180 Orphanet:377789 obsolete malformation syndrome +MONDO:0019912 maternal uniparental disomy of chromosome 6 MONDO:0020056 Orphanet:96181 Orphanet:98153 obsolete uniparental disomy of maternal origin +MONDO:0019912 maternal uniparental disomy of chromosome 6 MONDO:8000032 Orphanet:96181 Orphanet:377789 obsolete malformation syndrome +MONDO:0019913 silver-Russell syndrome due to maternal uniparental disomy of chromosome 7 MONDO:0020056 Orphanet:96182 Orphanet:98153 obsolete uniparental disomy of maternal origin +MONDO:0019913 silver-Russell syndrome due to maternal uniparental disomy of chromosome 7 MONDO:8000031 Orphanet:96182 Orphanet:557494 obsolete subtype of a disorder +MONDO:0019914 maternal uniparental disomy of chromosome 9 MONDO:0020056 Orphanet:96183 Orphanet:98153 obsolete uniparental disomy of maternal origin +MONDO:0019914 maternal uniparental disomy of chromosome 9 MONDO:8000032 Orphanet:96183 Orphanet:377789 obsolete malformation syndrome +MONDO:0019915 maternal uniparental disomy of chromosome 14 MONDO:0020056 Orphanet:96184 Orphanet:98153 obsolete uniparental disomy of maternal origin +MONDO:0019915 maternal uniparental disomy of chromosome 14 MONDO:8000031 Orphanet:96184 Orphanet:557494 obsolete subtype of a disorder +MONDO:0019916 maternal uniparental disomy of chromosome 16 MONDO:0015246 Orphanet:96185 Orphanet:117573 obsolete syndromic anorectal malformation +MONDO:0019916 maternal uniparental disomy of chromosome 16 MONDO:0020056 Orphanet:96185 Orphanet:98153 obsolete uniparental disomy of maternal origin +MONDO:0019916 maternal uniparental disomy of chromosome 16 MONDO:8000032 Orphanet:96185 Orphanet:377789 obsolete malformation syndrome +MONDO:0019917 maternal uniparental disomy of chromosome 20 MONDO:0020056 Orphanet:96186 Orphanet:98153 obsolete uniparental disomy of maternal origin +MONDO:0019917 maternal uniparental disomy of chromosome 20 MONDO:8000032 Orphanet:96186 Orphanet:377789 obsolete malformation syndrome +MONDO:0019918 maternal uniparental disomy of chromosome 21 MONDO:0020056 Orphanet:96187 Orphanet:98153 obsolete uniparental disomy of maternal origin +MONDO:0019918 maternal uniparental disomy of chromosome 21 MONDO:8000032 Orphanet:96187 Orphanet:377789 obsolete malformation syndrome +MONDO:0019919 maternal uniparental disomy of chromosome 22 MONDO:0020056 Orphanet:96188 Orphanet:98153 obsolete uniparental disomy of maternal origin +MONDO:0019919 maternal uniparental disomy of chromosome 22 MONDO:8000032 Orphanet:96188 Orphanet:377789 obsolete malformation syndrome +MONDO:0019920 paternal uniparental disomy of chromosome 5 MONDO:0020057 Orphanet:96190 Orphanet:98154 obsolete uniparental disomy of paternal origin +MONDO:0019920 paternal uniparental disomy of chromosome 5 MONDO:8000032 Orphanet:96190 Orphanet:377789 obsolete malformation syndrome +MONDO:0019921 paternal uniparental disomy of chromosome 6 MONDO:0020057 Orphanet:96191 Orphanet:98154 obsolete uniparental disomy of paternal origin +MONDO:0019921 paternal uniparental disomy of chromosome 6 MONDO:8000032 Orphanet:96191 Orphanet:377789 obsolete malformation syndrome +MONDO:0019922 paternal uniparental disomy of chromosome 7 MONDO:0020057 Orphanet:96192 Orphanet:98154 obsolete uniparental disomy of paternal origin +MONDO:0019922 paternal uniparental disomy of chromosome 7 MONDO:8000032 Orphanet:96192 Orphanet:377789 obsolete malformation syndrome +MONDO:0019923 Beckwith-Wiedemann syndrome due to paternal uniparental disomy of chromosome 11 MONDO:0020057 Orphanet:96193 Orphanet:98154 obsolete uniparental disomy of paternal origin +MONDO:0019923 Beckwith-Wiedemann syndrome due to paternal uniparental disomy of chromosome 11 MONDO:8000031 Orphanet:96193 Orphanet:557494 obsolete subtype of a disorder +MONDO:0019924 paternal uniparental disomy of chromosome 20 MONDO:0020057 Orphanet:96194 Orphanet:98154 obsolete uniparental disomy of paternal origin +MONDO:0019924 paternal uniparental disomy of chromosome 20 MONDO:8000032 Orphanet:96194 Orphanet:377789 obsolete malformation syndrome +MONDO:0019925 paternal uniparental disomy of chromosome 21 MONDO:0020057 Orphanet:96195 Orphanet:98154 obsolete uniparental disomy of paternal origin +MONDO:0019925 paternal uniparental disomy of chromosome 21 MONDO:8000032 Orphanet:96195 Orphanet:377789 obsolete malformation syndrome +MONDO:0019926 X small rings MONDO:0018401 Orphanet:96201 Orphanet:399853 obsolete female infertility due to an anomaly of ovarian function +MONDO:0019926 X small rings MONDO:0018413 Orphanet:96201 Orphanet:400022 obsolete female infertility due to an anomaly of ovarian function of genetic origin +MONDO:0019926 X small rings MONDO:0020062 Orphanet:96201 Orphanet:98159 obsolete chromosome X structural anomaly +MONDO:0019926 X small rings MONDO:0034443 Orphanet:96201 Orphanet:485382 obsolete genetic non-acquired premature ovarian failure +MONDO:0019926 X small rings MONDO:8000032 Orphanet:96201 Orphanet:377789 obsolete malformation syndrome +MONDO:0019928 48,XXXY syndrome MONDO:0015620 Orphanet:96263 Orphanet:165707 obsolete syndromic urogenital tract malformation +MONDO:0019928 48,XXXY syndrome MONDO:0017001 Orphanet:96263 Orphanet:263720 obsolete X chromosome number anomaly with male phenotype +MONDO:0019928 48,XXXY syndrome MONDO:0020090 Orphanet:96263 Orphanet:98313 obsolete male infertility due to gonadal dysgenesis +MONDO:0019928 48,XXXY syndrome MONDO:0035863 Orphanet:96263 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0019928 48,XXXY syndrome MONDO:8000032 Orphanet:96263 Orphanet:377789 obsolete malformation syndrome +MONDO:0019929 49,XXXXY syndrome MONDO:0015620 Orphanet:96264 Orphanet:165707 obsolete syndromic urogenital tract malformation +MONDO:0019929 49,XXXXY syndrome MONDO:0017001 Orphanet:96264 Orphanet:263720 obsolete X chromosome number anomaly with male phenotype +MONDO:0019929 49,XXXXY syndrome MONDO:0020090 Orphanet:96264 Orphanet:98313 obsolete male infertility due to gonadal dysgenesis +MONDO:0019929 49,XXXXY syndrome MONDO:0035863 Orphanet:96264 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0019929 49,XXXXY syndrome MONDO:8000032 Orphanet:96264 Orphanet:377789 obsolete malformation syndrome +MONDO:0019930 Leydig cell hypoplasia due to complete LH resistance MONDO:8000031 Orphanet:96265 Orphanet:557494 obsolete subtype of a disorder +MONDO:0019931 Leydig cell hypoplasia due to partial LH resistance MONDO:8000031 Orphanet:96266 Orphanet:557494 obsolete subtype of a disorder +MONDO:0019932 isolated partial vaginal agenesis MONDO:0015847 Orphanet:96269 Orphanet:180151 obsolete rare vaginal malformation +MONDO:0019932 isolated partial vaginal agenesis MONDO:8000030 Orphanet:96269 Orphanet:377791 obsolete morphological anomaly +MONDO:0019933 acromegaly MONDO:0018397 Orphanet:963 Orphanet:399831 obsolete female infertility due to hypothalamic-pituitary-gonadal axis disorder +MONDO:0019935 isochromosome Y MONDO:0020061 Orphanet:96325 Orphanet:98158 obsolete chromosome Y structural anomaly +MONDO:0019936 obsolete rare otorhinolaryngological malformation MONDO:0015475 Orphanet:96333 Orphanet:155832 obsolete rare head and neck malformation +MONDO:0019936 obsolete rare otorhinolaryngological malformation MONDO:0020017 Orphanet:96333 Orphanet:98036 obsolete rare otorhinolaryngologic disease +MONDO:0019937 obsolete rare gynecologic or obstetric disease MONDO:8000033 Orphanet:96344 Orphanet:557492 obsolete group of disorders +MONDO:0019938 anorectal malformation MONDO:0020019 Orphanet:96346 Orphanet:98039 obsolete digestive tract malformation +MONDO:0019938 anorectal malformation MONDO:0026183 Orphanet:96346 Orphanet:183545 obsolete genetic digestive tract malformation +MONDO:0019941 hereditary sensory and autonomic neuropathy type 2 MONDO:0015366 Orphanet:970 Orphanet:140477 obsolete autosomal recessive hereditary sensory and autonomic neuropathy +MONDO:0019943 hereditary continuous muscle fiber activity MONDO:0016110 Orphanet:972 Orphanet:206656 obsolete non-dystrophic myopathy +MONDO:0019944 Eisenmenger syndrome MONDO:0017152 Orphanet:97214 Orphanet:275803 obsolete pulmonary arterial hypertension associated with congenital heart disease +MONDO:0019944 Eisenmenger syndrome MONDO:8000032 Orphanet:97214 Orphanet:377789 obsolete malformation syndrome +MONDO:0019945 solar urticaria MONDO:0019304 Orphanet:97230 Orphanet:79390 obsolete rare photodermatosis +MONDO:0019947 rippling muscle disease 2 MONDO:0016110 Orphanet:97238 Orphanet:206656 obsolete non-dystrophic myopathy +MONDO:0019952 congenital myopathy MONDO:0016110 Orphanet:97245 Orphanet:206656 obsolete non-dystrophic myopathy +MONDO:0019953 mega-cisterna magna MONDO:0020133 Orphanet:97252 Orphanet:98519 obsolete posterior fossa malformation +MONDO:0019953 mega-cisterna magna MONDO:8000030 Orphanet:97252 Orphanet:377791 obsolete morphological anomaly +MONDO:0019956 encephalitis MONDO:0015144 Orphanet:97275 Orphanet:102005 obsolete brain inflammatory disease +MONDO:0019963 bronchial endocrine tumor MONDO:0015081 Orphanet:97287 Orphanet:100101 obsolete neuroendocrine tumor with other location +MONDO:0019963 bronchial endocrine tumor MONDO:0015119 Orphanet:97287 Orphanet:101945 obsolete bronchopulmonary tumor +MONDO:0019964 thymic neuroendocrine tumor MONDO:0015081 Orphanet:97289 Orphanet:100101 obsolete neuroendocrine tumor with other location +MONDO:0019965 obsolete rare benign ovarian tumor MONDO:0015861 Orphanet:97293 Orphanet:180220 obsolete rare uterine adnexal tumor +MONDO:0019971 melanoma of soft tissue MONDO:0019099 Orphanet:97338 Orphanet:71209 obsolete rare soft tissue tumor +MONDO:0019972 dural sinus malformation MONDO:0015145 Orphanet:97339 Orphanet:102006 obsolete neurovascular malformation +MONDO:0019972 dural sinus malformation MONDO:0016234 Orphanet:97339 Orphanet:211266 obsolete rare arteriovenous malformation +MONDO:0019972 dural sinus malformation MONDO:8000030 Orphanet:97339 Orphanet:377791 obsolete morphological anomaly +MONDO:0019975 pellagra MONDO:0019546 Orphanet:97352 Orphanet:90077 obsolete other acquired skin disease +MONDO:0019976 dementia pugilistica MONDO:0019515 Orphanet:97353 Orphanet:89043 obsolete rare dementia +MONDO:0019977 parkinsonism with dementia of Guadeloupe MONDO:0017635 Orphanet:97355 Orphanet:306666 obsolete parkinsonian syndrome due to neurodegenerative disease +MONDO:0019977 parkinsonism with dementia of Guadeloupe MONDO:0019515 Orphanet:97355 Orphanet:89043 obsolete rare dementia +MONDO:0019978 Robinow syndrome MONDO:0015329 Orphanet:97360 Orphanet:139021 obsolete malformation syndrome with short stature +MONDO:0019978 Robinow syndrome MONDO:0019697 Orphanet:97360 Orphanet:93438 obsolete mesomelic and rhizo-mesomelic dysplasia +MONDO:0019978 Robinow syndrome MONDO:0026187 Orphanet:97360 Orphanet:183570 obsolete genetic malformation syndrome with short stature +MONDO:0019978 Robinow syndrome MONDO:0035863 Orphanet:97360 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0019978 Robinow syndrome MONDO:8000032 Orphanet:97360 Orphanet:377789 obsolete malformation syndrome +MONDO:0019979 renal hypoplasia, unilateral MONDO:8000031 Orphanet:97361 Orphanet:557494 obsolete subtype of a disorder +MONDO:0019980 renal hypoplasia, bilateral MONDO:8000031 Orphanet:97362 Orphanet:557494 obsolete subtype of a disorder +MONDO:0019981 unilateral multicystic dysplastic kidney MONDO:8000031 Orphanet:97363 Orphanet:557494 obsolete subtype of a disorder +MONDO:0019982 bilateral multicystic dysplastic kidney MONDO:8000031 Orphanet:97364 Orphanet:557494 obsolete subtype of a disorder +MONDO:0019983 multiloculated renal cyst MONDO:0019749 Orphanet:97366 Orphanet:93619 obsolete rare renal tumor +MONDO:0019983 multiloculated renal cyst MONDO:8000030 Orphanet:97366 Orphanet:377791 obsolete morphological anomaly +MONDO:0019984 renal tubular dysgenesis due to twin-twin transfusion MONDO:8000031 Orphanet:97367 Orphanet:557494 obsolete subtype of a disorder +MONDO:0019985 drug-related renal tubular dysgenesis MONDO:8000031 Orphanet:97368 Orphanet:557494 obsolete subtype of a disorder +MONDO:0019988 pauci-immune glomerulonephritis with ANCA MONDO:8000031 Orphanet:97563 Orphanet:557494 obsolete subtype of a disorder +MONDO:0019989 pauci-immune glomerulonephritis without ANCA MONDO:8000031 Orphanet:97564 Orphanet:557494 obsolete subtype of a disorder +MONDO:0019992 pseudohypoparathyroidism MONDO:0015896 Orphanet:97593 Orphanet:181405 obsolete rare hypoparathyroidism +MONDO:0019992 pseudohypoparathyroidism MONDO:0019744 Orphanet:97593 Orphanet:93603 obsolete rare renal tubular disease +MONDO:0019993 congenital renal artery stenosis MONDO:0018723 Orphanet:97598 Orphanet:458844 obsolete rare vascular malformation of major vessels +MONDO:0019993 congenital renal artery stenosis MONDO:0019748 Orphanet:97598 Orphanet:93618 obsolete rare cause of hypertension +MONDO:0019994 maternal uniparental disomy of chromosome 13 MONDO:0020056 Orphanet:97678 Orphanet:98153 obsolete uniparental disomy of maternal origin +MONDO:0019994 maternal uniparental disomy of chromosome 13 MONDO:8000032 Orphanet:97678 Orphanet:377789 obsolete malformation syndrome +MONDO:0019996 obsolete rare cardiac disease MONDO:8000033 Orphanet:97929 Orphanet:557492 obsolete group of disorders +MONDO:0019997 obsolete rare gastroenterologic disease MONDO:8000033 Orphanet:97935 Orphanet:557492 obsolete group of disorders +MONDO:0019998 obsolete gastroduodenal malformation MONDO:0020019 Orphanet:97944 Orphanet:98039 obsolete digestive tract malformation +MONDO:0019998 obsolete gastroduodenal malformation MONDO:0026183 Orphanet:97944 Orphanet:183545 obsolete genetic digestive tract malformation +MONDO:0019999 obsolete intestinal malformation MONDO:0020019 Orphanet:97945 Orphanet:98039 obsolete digestive tract malformation +MONDO:0019999 obsolete intestinal malformation MONDO:0026183 Orphanet:97945 Orphanet:183545 obsolete genetic digestive tract malformation +MONDO:0020000 obsolete rare respiratory disease MONDO:8000033 Orphanet:97955 Orphanet:557492 obsolete group of disorders +MONDO:0020001 respiratory or thoracic malformation MONDO:0020000 Orphanet:97957 Orphanet:97955 obsolete rare respiratory disease +MONDO:0020002 obsolete rare surgical thoracic disease MONDO:8000033 Orphanet:97962 Orphanet:557492 obsolete group of disorders +MONDO:0020003 obsolete rare surgical cardiac disease MONDO:0019755 Orphanet:97965 Orphanet:93890 developmental defect during embryogenesis +MONDO:0020004 obsolete rare eye disease MONDO:8000033 Orphanet:97966 Orphanet:557492 obsolete group of disorders +MONDO:0020005 obsolete rare endocrine disease MONDO:8000033 Orphanet:97978 Orphanet:557492 obsolete group of disorders +MONDO:0020007 absence of the pulmonary artery MONDO:0020287 Orphanet:980 Orphanet:98719 obsolete pulmonary artery or pulmonary branch anomaly +MONDO:0020007 absence of the pulmonary artery MONDO:8000030 Orphanet:980 Orphanet:377791 obsolete morphological anomaly +MONDO:0020008 obsolete rare immune disease MONDO:8000033 Orphanet:98004 Orphanet:557492 obsolete group of disorders +MONDO:0020009 obsolete rare neurologic disease MONDO:8000033 Orphanet:98006 Orphanet:557492 obsolete group of disorders +MONDO:0020010 infectious disorder of the nervous system MONDO:0020009 Orphanet:98010 Orphanet:98006 obsolete rare neurologic disease +MONDO:0020011 obsolete rare headache disorder MONDO:0020009 Orphanet:98022 Orphanet:98006 obsolete rare neurologic disease +MONDO:0020013 obsolete rare odontologic disease MONDO:8000033 Orphanet:98026 Orphanet:557492 obsolete group of disorders +MONDO:0020014 obsolete rare disease with odontological manifestation MONDO:0020013 Orphanet:98027 Orphanet:98026 obsolete rare odontologic disease +MONDO:0020015 obsolete rare circulatory system disease MONDO:8000033 Orphanet:98028 Orphanet:557492 obsolete group of disorders +MONDO:0020016 obsolete rare neurologic disease with psychiatric involvement MONDO:0020009 Orphanet:98033 Orphanet:98006 obsolete rare neurologic disease +MONDO:0020017 obsolete rare otorhinolaryngologic disease MONDO:8000033 Orphanet:98036 Orphanet:557492 obsolete group of disorders +MONDO:0020018 obsolete cranial malformation MONDO:0019755 Orphanet:98038 Orphanet:93890 developmental defect during embryogenesis +MONDO:0020019 obsolete digestive tract malformation MONDO:0015621 Orphanet:98039 Orphanet:165711 obsolete rare abdominal surgical disease +MONDO:0020019 obsolete digestive tract malformation MONDO:0019755 Orphanet:98039 Orphanet:93890 developmental defect during embryogenesis +MONDO:0020020 obsolete visceral malformation of the liver, biliary tract, pancreas or spleen MONDO:0015621 Orphanet:98041 Orphanet:165711 obsolete rare abdominal surgical disease +MONDO:0020020 obsolete visceral malformation of the liver, biliary tract, pancreas or spleen MONDO:0019755 Orphanet:98041 Orphanet:93890 developmental defect during embryogenesis +MONDO:0020021 obsolete diaphragmatic or abdominal wall malformation MONDO:0015621 Orphanet:98043 Orphanet:165711 obsolete rare abdominal surgical disease +MONDO:0020021 obsolete diaphragmatic or abdominal wall malformation MONDO:0019755 Orphanet:98043 Orphanet:93890 developmental defect during embryogenesis +MONDO:0020022 central nervous system malformation MONDO:0020009 Orphanet:98044 Orphanet:98006 obsolete rare neurologic disease +MONDO:0020023 obsolete respiratory or mediastinal malformation MONDO:0019755 Orphanet:98045 Orphanet:93890 developmental defect during embryogenesis +MONDO:0020024 obsolete rare infertility MONDO:8000033 Orphanet:98047 Orphanet:557492 obsolete group of disorders +MONDO:0020025 obsolete rare male infertility MONDO:0020024 Orphanet:98048 Orphanet:98047 obsolete rare infertility +MONDO:0020026 obsolete rare female infertility MONDO:0020024 Orphanet:98049 Orphanet:98047 obsolete rare infertility +MONDO:0020027 obsolete rare allergic disease MONDO:8000033 Orphanet:98050 Orphanet:557492 obsolete group of disorders +MONDO:0020028 obsolete rare allergic respiratory disease MONDO:0020027 Orphanet:98052 Orphanet:98050 obsolete rare allergic disease +MONDO:0020029 obsolete rare genetic cardiac disease MONDO:0021198 Orphanet:98054 Orphanet:98053 obsolete rare genetic disease +MONDO:0020030 obsolete rare genetic renal disease MONDO:0021198 Orphanet:98056 Orphanet:98053 obsolete rare genetic disease +MONDO:0020031 obsolete rare tumor MONDO:0016645 Orphanet:98057 Orphanet:250908 obsolete rare neoplastic disease +MONDO:0020032 obsolete rare urinary tract tumor MONDO:0015931 Orphanet:98058 Orphanet:182114 obsolete rare urogenital tumor +MONDO:0020033 obsolete rare digestive tumor MONDO:0020031 Orphanet:98059 Orphanet:98057 obsolete rare tumor +MONDO:0020034 obsolete rare respiratory tract neoplasm MONDO:0020000 Orphanet:98060 Orphanet:97955 obsolete rare respiratory disease +MONDO:0020034 obsolete rare respiratory tract neoplasm MONDO:0020031 Orphanet:98060 Orphanet:98057 obsolete rare tumor +MONDO:0020035 obsolete rare otorhinolaryngologic tumor MONDO:0017371 Orphanet:98061 Orphanet:290849 obsolete rare head and neck tumor +MONDO:0020035 obsolete rare otorhinolaryngologic tumor MONDO:0020017 Orphanet:98061 Orphanet:98036 obsolete rare otorhinolaryngologic disease +MONDO:0020036 obsolete rare nervous system tumor MONDO:0020009 Orphanet:98062 Orphanet:98006 obsolete rare neurologic disease +MONDO:0020036 obsolete rare nervous system tumor MONDO:0020031 Orphanet:98062 Orphanet:98057 obsolete rare tumor +MONDO:0020037 obsolete rare gynecological tumor MONDO:0019937 Orphanet:98063 Orphanet:96344 obsolete rare gynecologic or obstetric disease +MONDO:0020037 obsolete rare gynecological tumor MONDO:0020031 Orphanet:98063 Orphanet:98057 obsolete rare tumor +MONDO:0020038 obsolete gonadal dysgenesis of gynecological interest MONDO:0017976 Orphanet:98074 Orphanet:325620 obsolete disorder of sex development of gynecological interest +MONDO:0020038 obsolete gonadal dysgenesis of gynecological interest MONDO:0031004 Orphanet:98074 Orphanet:325665 obsolete genetic disorder of sex development of gynecological interest +MONDO:0020039 obsolete 46,XX disorder of sex development induced by androgens excess MONDO:0017576 Orphanet:98078 Orphanet:2982 46,XX disorder of sex development +MONDO:0020039 obsolete 46,XX disorder of sex development induced by androgens excess MONDO:0017976 Orphanet:98078 Orphanet:325620 obsolete disorder of sex development of gynecological interest +MONDO:0020041 obsolete 46,XY disorder of sex development due to a defect in testosterone metabolism by peripheral tissue MONDO:0017970 Orphanet:98086 Orphanet:325357 obsolete 46,XY disorder of sex development due to impaired androgen production +MONDO:0020041 obsolete 46,XY disorder of sex development due to a defect in testosterone metabolism by peripheral tissue MONDO:0017977 Orphanet:98086 Orphanet:325632 obsolete 46,XY disorder of sex development of gynecological interest +MONDO:0020042 obsolete syndrome with 46,XY disorder of sex development MONDO:0020040 Orphanet:98087 Orphanet:98085 46,XY disorder of sex development +MONDO:0020042 obsolete syndrome with 46,XY disorder of sex development MONDO:0957025 Orphanet:98087 Orphanet:325706 obsolete hereditary 46,XY disorder of sex development +MONDO:0020045 obsolete autosomal recessive cerebellar ataxia due to a DNA repair defect MONDO:0015244 Orphanet:98097 Orphanet:1172 autosomal recessive cerebellar ataxia +MONDO:0020048 internal carotid agenesis MONDO:0015145 Orphanet:981 Orphanet:102006 obsolete neurovascular malformation +MONDO:0020048 internal carotid agenesis MONDO:0018723 Orphanet:981 Orphanet:458844 obsolete rare vascular malformation of major vessels +MONDO:0020048 internal carotid agenesis MONDO:8000030 Orphanet:981 Orphanet:377791 obsolete morphological anomaly +MONDO:0020050 obsolete autosomal trisomy MONDO:0020049 Orphanet:98130 Orphanet:98127 autosomal anomaly +MONDO:0020051 obsolete total autosomal trisomy MONDO:0020050 Orphanet:98131 Orphanet:98130 obsolete autosomal trisomy +MONDO:0020052 obsolete partial autosomal trisomy/tetrasomy MONDO:0020050 Orphanet:98132 Orphanet:98130 obsolete autosomal trisomy +MONDO:0020053 obsolete total autosomal monosomy MONDO:0015153 Orphanet:98141 Orphanet:102020 obsolete autosomal monosomy +MONDO:0020054 obsolete partial autosomal monosomy MONDO:0015153 Orphanet:98142 Orphanet:102020 obsolete autosomal monosomy +MONDO:0020055 obsolete autosomal uniparental disomy MONDO:0020049 Orphanet:98152 Orphanet:98127 autosomal anomaly +MONDO:0020056 obsolete uniparental disomy of maternal origin MONDO:0020055 Orphanet:98153 Orphanet:98152 obsolete autosomal uniparental disomy +MONDO:0020057 obsolete uniparental disomy of paternal origin MONDO:0020055 Orphanet:98154 Orphanet:98152 obsolete autosomal uniparental disomy +MONDO:0020059 obsolete gonosome number anomaly MONDO:0020058 Orphanet:98156 Orphanet:98155 gonosome anomaly +MONDO:0020060 obsolete gonosome structural anomaly MONDO:0020058 Orphanet:98157 Orphanet:98155 gonosome anomaly +MONDO:0020061 obsolete chromosome Y structural anomaly MONDO:0020060 Orphanet:98158 Orphanet:98157 obsolete gonosome structural anomaly +MONDO:0020062 obsolete chromosome X structural anomaly MONDO:0020060 Orphanet:98159 Orphanet:98157 obsolete gonosome structural anomaly +MONDO:0020063 obsolete malformation syndrome with hamartosis MONDO:0015960 Orphanet:98196 Orphanet:183530 obsolete rare genetic developmental defect during embryogenesis +MONDO:0020063 obsolete malformation syndrome with hamartosis MONDO:0019755 Orphanet:98196 Orphanet:93890 developmental defect during embryogenesis +MONDO:0020064 pulmonary valve agenesis MONDO:0020287 Orphanet:982 Orphanet:98719 obsolete pulmonary artery or pulmonary branch anomaly +MONDO:0020065 combined dystonia MONDO:0019049 Orphanet:98203 Orphanet:68363 obsolete rare dystonia +MONDO:0020066 Ehlers-Danlos syndrome MONDO:0015331 Orphanet:98249 Orphanet:139027 obsolete malformation syndrome with skin/mucosae involvement +MONDO:0020066 Ehlers-Danlos syndrome MONDO:0015332 Orphanet:98249 Orphanet:139030 obsolete rare developmental defect with connective tissue involvement +MONDO:0020069 obsolete chronic encephalitis MONDO:0019956 Orphanet:98255 Orphanet:97275 encephalitis +MONDO:0020069 obsolete chronic encephalitis MONDO:0020010 Orphanet:98255 Orphanet:98010 infectious disorder of the nervous system +MONDO:0020074 progressive myoclonus epilepsy MONDO:0017653 Orphanet:98261 Orphanet:306756 obsolete epilepsy and/or ataxia with myoclonus as major feature MONDO:0020075 obsolete hereditary non-syndromic obesity MONDO:0000001 Orphanet:98267 Orphanet:377788 disease +MONDO:0020075 obsolete hereditary non-syndromic obesity MONDO:0019182 Orphanet:98267 Orphanet:77828 inherited obesity +MONDO:0020078 obsolete acute myeloid leukemia with recurrent genetic anomaly MONDO:0018874 Orphanet:98277 Orphanet:519 acute myeloid leukemia +MONDO:0020081 obsolete macrophage or histiocytic tumor MONDO:0006247 Orphanet:98288 Orphanet:98287 histiocytic and dendritic cell neoplasm +MONDO:0020084 obsolete lymphoproliferative disease associated with primary immune disease MONDO:0020083 Orphanet:98291 Orphanet:98290 immunodeficiency-associated lymphoproliferative disease +MONDO:0020087 hereditary lipodystrophy MONDO:0015513 Orphanet:98305 Orphanet:156638 obsolete rare genetic endocrine disease +MONDO:0020087 hereditary lipodystrophy MONDO:0015949 Orphanet:98305 Orphanet:183484 obsolete rare genetic subcutaneous tissue disorder +MONDO:0020087 hereditary lipodystrophy MONDO:0019599 Orphanet:98305 Orphanet:90970 obsolete primary lipodystrophy +MONDO:0020089 acquired lipodystrophy MONDO:0019599 Orphanet:98307 Orphanet:90970 obsolete primary lipodystrophy +MONDO:0020090 obsolete male infertility due to gonadal dysgenesis MONDO:0018389 Orphanet:98313 Orphanet:399764 obsolete male infertility due to gonadal dysgenesis or sperm disorder +MONDO:0020091 obsolete male infertility due to obstructive azoospermia MONDO:0020025 Orphanet:98343 Orphanet:98048 obsolete rare male infertility +MONDO:0020093 obsolete autosomal dominant isolated diffuse palmoplantar keratoderma MONDO:0017667 Orphanet:98349 Orphanet:307148 obsolete isolated diffuse palmoplantar keratoderma +MONDO:0020094 obsolete autosomal dominant disease with diffuse palmoplantar keratoderma as a major feature MONDO:0017669 Orphanet:98352 Orphanet:307711 obsolete disease with diffuse palmoplantar keratoderma as a major feature +MONDO:0020095 obsolete autosomal dominant disease associated with focal palmoplantar keratoderma as a major feature MONDO:0017674 Orphanet:98353 Orphanet:307871 obsolete disease with focal palmoplantar keratoderma as a major feature +MONDO:0020096 obsolete autosomal recessive isolated diffuse palmoplantar keratoderma MONDO:0017667 Orphanet:98356 Orphanet:307148 obsolete isolated diffuse palmoplantar keratoderma +MONDO:0020097 obsolete autosomal recessive disease with focal palmoplantar keratoderma as a major feature MONDO:0017674 Orphanet:98357 Orphanet:307871 obsolete disease with focal palmoplantar keratoderma as a major feature +MONDO:0020098 obsolete constitutional anemia due to iron metabolism disorder MONDO:0016624 Orphanet:98360 Orphanet:248296 inherited deficiency anemia +MONDO:0020099 inherited sideroblastic anemia MONDO:0015972 Orphanet:98362 Orphanet:183651 obsolete rare constitutional anemia +MONDO:0020100 obsolete rare hemolytic anemia MONDO:0015223 Orphanet:98363 Orphanet:108997 obsolete rare anemia +MONDO:0020101 obsolete constitutional hemolytic anemia due to membrane defect MONDO:0015910 Orphanet:98364 Orphanet:182043 obsolete rare constitutional hemolytic anemia +MONDO:0020102 hereditary stomatocytosis MONDO:0020101 Orphanet:98365 Orphanet:98364 obsolete constitutional hemolytic anemia due to membrane defect +MONDO:0020103 obsolete constitutional hemolytic anemia due to acanthocytosis MONDO:0020101 Orphanet:98366 Orphanet:98364 obsolete constitutional hemolytic anemia due to membrane defect +MONDO:0020104 obsolete rare constitutional hemolytic anemia due to an enzyme disorder MONDO:0015910 Orphanet:98369 Orphanet:182043 obsolete rare constitutional hemolytic anemia +MONDO:0020105 obsolete hemolytic anemia due to hexose monophosphate shunt and glutathione metabolism anomalies MONDO:0020104 Orphanet:98370 Orphanet:98369 obsolete rare constitutional hemolytic anemia due to an enzyme disorder +MONDO:0020106 obsolete hemolytic anemia due to a disorder of glycolytic enzymes MONDO:0020104 Orphanet:98372 Orphanet:98369 obsolete rare constitutional hemolytic anemia due to an enzyme disorder +MONDO:0020107 obsolete hemolytic anemia due to an erythrocyte nucleotide metabolism disorder MONDO:0020104 Orphanet:98374 Orphanet:98369 obsolete rare constitutional hemolytic anemia due to an enzyme disorder +MONDO:0020108 autoimmune hemolytic anemia MONDO:0015911 Orphanet:98375 Orphanet:182047 obsolete rare acquired hemolytic anemia +MONDO:0020109 obsolete constitutional megaloblastic anemia due to vitamin B12 metabolism disorder MONDO:0016624 Orphanet:98396 Orphanet:248296 inherited deficiency anemia +MONDO:0020110 pulmonary agenesis MONDO:0015221 Orphanet:984 Orphanet:108993 obsolete non-syndromic respiratory or mediastinal malformation +MONDO:0020110 pulmonary agenesis MONDO:0015930 Orphanet:984 Orphanet:182111 obsolete respiratory malformation +MONDO:0020110 pulmonary agenesis MONDO:8000030 Orphanet:984 Orphanet:377791 obsolete morphological anomaly +MONDO:0020111 obsolete constitutional megaloblastic anemia due to folate metabolism disorder MONDO:0016624 Orphanet:98408 Orphanet:248296 inherited deficiency anemia +MONDO:0020115 secondary polycythemia MONDO:0027929 Orphanet:98428 Orphanet:250165 obsolete genetic polycythemia +MONDO:0020116 obsolete rare blood coagulation disease MONDO:0005570 Orphanet:98429 Orphanet:97992 hematologic disorder +MONDO:0020117 alpha granule disease MONDO:0016361 Orphanet:98455 Orphanet:220452 obsolete isolated hereditary giant platelet disorder +MONDO:0020118 obsolete dense granule disease MONDO:0018795 Orphanet:98456 Orphanet:477794 syndromic constitutional thrombocytopenia +MONDO:0020122 acquired idiopathic inflammatory myopathy MONDO:0015939 Orphanet:98482 Orphanet:182228 obsolete systemic autoimmune disease +MONDO:0020123 metabolic myopathy MONDO:0016110 Orphanet:98486 Orphanet:206656 obsolete non-dystrophic myopathy +MONDO:0020125 obsolete acquired neuromuscular junction disease MONDO:0020124 Orphanet:98494 Orphanet:98491 neuromuscular junction disease +MONDO:0020126 obsolete rare peripheral neuropathy MONDO:0020009 Orphanet:98496 Orphanet:98006 obsolete rare neurologic disease +MONDO:0020127 hereditary peripheral neuropathy MONDO:0019117 Orphanet:98497 Orphanet:71859 obsolete genetic nervous system disorder +MONDO:0020127 hereditary peripheral neuropathy MONDO:0020126 Orphanet:98497 Orphanet:98496 obsolete rare peripheral neuropathy +MONDO:0020130 obsolete malformation of the cerebellar vermis MONDO:0015915 Orphanet:98514 Orphanet:182061 obsolete cerebellar malformation +MONDO:0020131 obsolete malformation of the cerebellar hemispheres MONDO:0015915 Orphanet:98516 Orphanet:182061 obsolete cerebellar malformation +MONDO:0020132 obsolete cranial nerve and nuclear aplasia MONDO:0015219 Orphanet:98518 Orphanet:108989 obsolete non-syndromic central nervous system malformation +MONDO:0020133 obsolete posterior fossa malformation MONDO:0015219 Orphanet:98519 Orphanet:108989 obsolete non-syndromic central nervous system malformation +MONDO:0020135 pontocerebellar hypoplasia MONDO:0015655 Orphanet:98523 Orphanet:166478 obsolete cerebral malformation with epilepsy +MONDO:0020135 pontocerebellar hypoplasia MONDO:0020133 Orphanet:98523 Orphanet:98519 obsolete posterior fossa malformation +MONDO:0020135 pontocerebellar hypoplasia MONDO:0957009 Orphanet:98523 Orphanet:269557 obsolete hereditary posterior fossa malformation +MONDO:0020136 obsolete neurodegenerative disease with dementia MONDO:0015918 Orphanet:98534 Orphanet:182070 obsolete rare neurodegenerative disease +MONDO:0020136 obsolete neurodegenerative disease with dementia MONDO:0019515 Orphanet:98534 Orphanet:89043 obsolete rare dementia +MONDO:0020137 obsolete frontotemporal degeneration with dementia MONDO:0020136 Orphanet:98535 Orphanet:98534 obsolete neurodegenerative disease with dementia +MONDO:0020138 obsolete ataxia with dementia MONDO:0020136 Orphanet:98538 Orphanet:98534 obsolete neurodegenerative disease with dementia +MONDO:0020138 obsolete ataxia with dementia MONDO:0021037 Orphanet:98538 Orphanet:276058 obsolete genetic neurodegenerative disease with dementia +MONDO:0020139 obsolete early-onset ataxia with dementia MONDO:0020138 Orphanet:98539 Orphanet:98538 obsolete ataxia with dementia +MONDO:0020140 obsolete late-onset ataxia with dementia MONDO:0020138 Orphanet:98540 Orphanet:98538 obsolete ataxia with dementia +MONDO:0020141 obsolete infectious disease with dementia MONDO:0019515 Orphanet:98542 Orphanet:89043 obsolete rare dementia +MONDO:0020142 obsolete metabolic disease with dementia MONDO:0015547 Orphanet:98543 Orphanet:158124 hereditary dementia +MONDO:0020142 obsolete metabolic disease with dementia MONDO:0019515 Orphanet:98543 Orphanet:89043 obsolete rare dementia +MONDO:0020143 cerebral lipidosis with dementia MONDO:0020142 Orphanet:98544 Orphanet:98543 obsolete metabolic disease with dementia +MONDO:0020144 obsolete cerebrovascular dementia MONDO:0015547 Orphanet:98549 Orphanet:158124 hereditary dementia +MONDO:0020144 obsolete cerebrovascular dementia MONDO:0019515 Orphanet:98549 Orphanet:89043 obsolete rare dementia +MONDO:0020145 obsolete developmental defect of the eye MONDO:0019755 Orphanet:98553 Orphanet:93890 developmental defect during embryogenesis +MONDO:0020148 obsolete syndromic aniridia MONDO:0850008 Orphanet:98557 Orphanet:519276 anterior segment developmental abnormality with extraocular manifestations +MONDO:0020151 obsolete rare palpebral disease MONDO:0020145 Orphanet:98560 Orphanet:98553 obsolete developmental defect of the eye +MONDO:0020152 obsolete rare eyelid malformation MONDO:0020151 Orphanet:98561 Orphanet:98560 obsolete rare palpebral disease +MONDO:0020153 cryptophthalmia MONDO:0020152 Orphanet:98562 Orphanet:98561 obsolete rare eyelid malformation +MONDO:0020154 obsolete microblepharon-ablephara syndrome MONDO:0020152 Orphanet:98563 Orphanet:98561 obsolete rare eyelid malformation +MONDO:0020155 obsolete eyelid border anomaly MONDO:0020152 Orphanet:98564 Orphanet:98561 obsolete rare eyelid malformation +MONDO:0020156 obsolete syndromic ankyloblepharon MONDO:0020155 Orphanet:98565 Orphanet:98564 obsolete eyelid border anomaly +MONDO:0020157 obsolete syndromic palpebral coloboma MONDO:0020155 Orphanet:98566 Orphanet:98564 obsolete eyelid border anomaly +MONDO:0020158 obsolete eyelids malposition disorder MONDO:0020151 Orphanet:98567 Orphanet:98560 obsolete rare palpebral disease +MONDO:0020165 obsolete syndromic epicanthus MONDO:0020158 Orphanet:98574 Orphanet:98567 obsolete eyelids malposition disorder +MONDO:0020167 obsolete malposition of external canthus MONDO:0020158 Orphanet:98576 Orphanet:98567 obsolete eyelids malposition disorder +MONDO:0020169 obsolete rare disorder with ptosis MONDO:0020158 Orphanet:98578 Orphanet:98567 obsolete eyelids malposition disorder +MONDO:0020184 obsolete rare eyebrow/eyelashes anomaly MONDO:0020145 Orphanet:98594 Orphanet:98553 obsolete developmental defect of the eye +MONDO:0020184 obsolete rare eyebrow/eyelashes anomaly MONDO:0026186 Orphanet:98594 Orphanet:183557 obsolete genetic developmental defect of the eye +MONDO:0020194 obsolete congenital alacrima MONDO:0020192 Orphanet:98604 Orphanet:98602 obsolete rare lacrimal system disease +MONDO:0020195 obsolete excretory apparatus of the lacrimal system anomaly MONDO:0020145 Orphanet:98605 Orphanet:98553 obsolete developmental defect of the eye +MONDO:0020195 obsolete excretory apparatus of the lacrimal system anomaly MONDO:0020192 Orphanet:98605 Orphanet:98602 obsolete rare lacrimal system disease +MONDO:0020197 obsolete EEC syndrome and related syndrome MONDO:0019287 Orphanet:98609 Orphanet:79373 ectodermal dysplasia syndrome +MONDO:0020197 obsolete EEC syndrome and related syndrome MONDO:0020192 Orphanet:98609 Orphanet:98602 obsolete rare lacrimal system disease +MONDO:0020206 obsolete rare refraction anomaly MONDO:0015107 Orphanet:98618 Orphanet:101435 obsolete rare genetic eye disease +MONDO:0020206 obsolete rare refraction anomaly MONDO:0020004 Orphanet:98618 Orphanet:97966 obsolete rare eye disease MONDO:0020207 obsolete rare isolated myopia MONDO:0000001 Orphanet:98619 Orphanet:377788 disease +MONDO:0020207 obsolete rare isolated myopia MONDO:0020206 Orphanet:98619 Orphanet:98618 obsolete rare refraction anomaly +MONDO:0020209 obsolete rare hyperopia and astigmatism MONDO:0020206 Orphanet:98621 Orphanet:98618 obsolete rare refraction anomaly +MONDO:0020210 obsolete syndromic hyperopia MONDO:0020209 Orphanet:98622 Orphanet:98621 obsolete rare hyperopia and astigmatism +MONDO:0020215 obsolete syndromic corneal dystrophy MONDO:0018102 Orphanet:98628 Orphanet:34533 corneal dystrophy +MONDO:0020216 obsolete secondary dysgenetic glaucoma MONDO:0020145 Orphanet:98631 Orphanet:98553 obsolete developmental defect of the eye +MONDO:0020216 obsolete secondary dysgenetic glaucoma MONDO:0957341 Orphanet:98631 Orphanet:519331 secondary early-onset glaucoma +MONDO:0020219 obsolete corneogoniodysgenesis MONDO:0020145 Orphanet:98635 Orphanet:98553 obsolete developmental defect of the eye +MONDO:0020219 obsolete corneogoniodysgenesis MONDO:0026186 Orphanet:98635 Orphanet:183557 obsolete genetic developmental defect of the eye +MONDO:0020222 obsolete rare disease with glaucoma as a major feature MONDO:0035075 Orphanet:98638 Orphanet:522580 obsolete secondary early-onset glaucoma of genetic origin +MONDO:0020222 obsolete rare disease with glaucoma as a major feature MONDO:0957341 Orphanet:98638 Orphanet:519331 secondary early-onset glaucoma +MONDO:0020224 obsolete rare cataract MONDO:0020223 Orphanet:98640 Orphanet:98639 obsolete lens and zonula anomaly +MONDO:0020225 obsolete syndromic cataract MONDO:0020224 Orphanet:98641 Orphanet:98640 obsolete rare cataract +MONDO:0020226 obsolete chromosomal anomaly with cataract MONDO:0020225 Orphanet:98642 Orphanet:98641 obsolete syndromic cataract +MONDO:0020228 obsolete cataract associated with a metabolic disease MONDO:0020225 Orphanet:98644 Orphanet:98641 obsolete syndromic cataract +MONDO:0020230 obsolete renal disease with cataract MONDO:0020225 Orphanet:98646 Orphanet:98641 obsolete syndromic cataract +MONDO:0020232 obsolete musculoskeletal disease with cataract MONDO:0020225 Orphanet:98648 Orphanet:98641 obsolete syndromic cataract +MONDO:0020233 obsolete dentocutaneous disease with cataract MONDO:0020225 Orphanet:98649 Orphanet:98641 obsolete syndromic cataract +MONDO:0020234 obsolete craniofacial anomaly with cataract MONDO:0020225 Orphanet:98650 Orphanet:98641 obsolete syndromic cataract +MONDO:0020235 obsolete lens size anomaly MONDO:0020145 Orphanet:98652 Orphanet:98553 obsolete developmental defect of the eye +MONDO:0020235 obsolete lens size anomaly MONDO:0020223 Orphanet:98652 Orphanet:98639 obsolete lens and zonula anomaly +MONDO:0020236 obsolete lens position anomaly MONDO:0020145 Orphanet:98653 Orphanet:98553 obsolete developmental defect of the eye +MONDO:0020236 obsolete lens position anomaly MONDO:0020223 Orphanet:98653 Orphanet:98639 obsolete lens and zonula anomaly +MONDO:0020237 obsolete lens shape anomaly MONDO:0020145 Orphanet:98655 Orphanet:98553 obsolete developmental defect of the eye +MONDO:0020237 obsolete lens shape anomaly MONDO:0020223 Orphanet:98655 Orphanet:98639 obsolete lens and zonula anomaly +MONDO:0020237 obsolete lens shape anomaly MONDO:0026186 Orphanet:98655 Orphanet:183557 obsolete genetic developmental defect of the eye +MONDO:0020240 obsolete syndromic retinitis pigmentosa MONDO:0034953 Orphanet:98661 Orphanet:519325 obsolete syndromic inherited retinal disorder +MONDO:0020250 autosomal dominant optic atrophy MONDO:0016803 Orphanet:98672 Orphanet:254837 obsolete unspecified inborn mitochondrial disorder +MONDO:0020251 obsolete rare strabismus and restriction syndrome MONDO:0034968 Orphanet:98681 Orphanet:519355 obsolete rare ocular motility/alignment disorder +MONDO:0020253 obsolete syndrome with a symptomatic strabismus MONDO:0020251 Orphanet:98683 Orphanet:98681 obsolete rare strabismus and restriction syndrome +MONDO:0020254 obsolete craniostenosis associated with a strabismus MONDO:0020253 Orphanet:98684 Orphanet:98683 obsolete syndrome with a symptomatic strabismus MONDO:0020256 obsolete congenital trochlear nerve palsy MONDO:0000001 Orphanet:98686 Orphanet:377788 disease +MONDO:0020257 supranuclear oculomotor palsy MONDO:0034961 Orphanet:98687 Orphanet:519341 obsolete rare brainstem or cerebellar disorder with ophthalmic involvement as a major feature +MONDO:0020258 obsolete oculomotor apraxia or related oculomotor disease MONDO:0034962 Orphanet:98688 Orphanet:519343 obsolete rare ophthalmic disorder with cortical involvement +MONDO:0020283 uveitis MONDO:0035001 Orphanet:98715 Orphanet:520814 obsolete rare disorder of the visual organs +MONDO:0020284 obsolete heart position anomaly MONDO:0019512 Orphanet:98716 Orphanet:88991 congenital heart malformation +MONDO:0020285 obsolete transposition of the great arteries and conotruncal cardiac anomaly MONDO:0019512 Orphanet:98717 Orphanet:88991 congenital heart malformation +MONDO:0020286 obsolete aortic malformation MONDO:0020285 Orphanet:98718 Orphanet:98717 obsolete transposition of the great arteries and conotruncal cardiac anomaly +MONDO:0020286 obsolete aortic malformation MONDO:0020292 Orphanet:98718 Orphanet:98724 congenital anomaly of the great arteries +MONDO:0020287 obsolete pulmonary artery or pulmonary branch anomaly MONDO:0020285 Orphanet:98719 Orphanet:98717 obsolete transposition of the great arteries and conotruncal cardiac anomaly +MONDO:0020287 obsolete pulmonary artery or pulmonary branch anomaly MONDO:0020292 Orphanet:98719 Orphanet:98724 congenital anomaly of the great arteries +MONDO:0020288 obsolete atrioventricular valve anomaly MONDO:0019512 Orphanet:98720 Orphanet:88991 congenital heart malformation +MONDO:0020289 congenital tricuspid malformation MONDO:0020288 Orphanet:98721 Orphanet:98720 obsolete atrioventricular valve anomaly +MONDO:0020290 familial atrioventricular septal defect MONDO:0017131 Orphanet:98722 Orphanet:271853 obsolete hereditary cardiac anomaly +MONDO:0020290 familial atrioventricular septal defect MONDO:0020288 Orphanet:98722 Orphanet:98720 obsolete atrioventricular valve anomaly +MONDO:0020292 congenital anomaly of the great arteries MONDO:0018723 Orphanet:98724 Orphanet:458844 obsolete rare vascular malformation of major vessels +MONDO:0020293 obsolete ascending aorta anomaly MONDO:0020292 Orphanet:98725 Orphanet:98724 congenital anomaly of the great arteries +MONDO:0020294 obsolete atrial defect and interatrial communication MONDO:0019512 Orphanet:98727 Orphanet:88991 congenital heart malformation +MONDO:0020295 congenital pulmonary veins anomaly MONDO:0018185 Orphanet:98729 Orphanet:363189 obsolete congenital anomaly of the great veins +MONDO:0020296 congenital arteriovenous fistula MONDO:0016230 Orphanet:98731 Orphanet:211243 obsolete simple vascular malformation +MONDO:0020297 Noonan syndrome and Noonan-related syndrome MONDO:0015329 Orphanet:98733 Orphanet:139021 obsolete malformation syndrome with short stature +MONDO:0020297 Noonan syndrome and Noonan-related syndrome MONDO:0015506 Orphanet:98733 Orphanet:156532 obsolete rare syndrome with cardiac malformations +MONDO:0020297 Noonan syndrome and Noonan-related syndrome MONDO:0026187 Orphanet:98733 Orphanet:183570 obsolete genetic malformation syndrome with short stature +MONDO:0020298 Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 MONDO:0020056 Orphanet:98754 Orphanet:98153 obsolete uniparental disomy of maternal origin +MONDO:0020298 Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 MONDO:8000031 Orphanet:98754 Orphanet:557494 obsolete subtype of a disorder +MONDO:0020301 Prader-Willi syndrome due to paternal 15q11q13 deletion MONDO:8000031 Orphanet:98793 Orphanet:557494 obsolete subtype of a disorder +MONDO:0020302 Angelman syndrome due to maternal 15q11q13 deletion MONDO:8000031 Orphanet:98794 Orphanet:557494 obsolete subtype of a disorder +MONDO:0020303 Angelman syndrome due to paternal uniparental disomy of chromosome 15 MONDO:0020057 Orphanet:98795 Orphanet:98154 obsolete uniparental disomy of paternal origin +MONDO:0020303 Angelman syndrome due to paternal uniparental disomy of chromosome 15 MONDO:8000031 Orphanet:98795 Orphanet:557494 obsolete subtype of a disorder +MONDO:0020304 isochromosomy Yp MONDO:8000032 Orphanet:98797 Orphanet:377789 obsolete malformation syndrome +MONDO:0020305 isochromosomy Yq MONDO:8000032 Orphanet:98798 Orphanet:377789 obsolete malformation syndrome +MONDO:0020307 benign childhood occipital epilepsy, Panayiotopoulos type MONDO:8000031 Orphanet:98815 Orphanet:557494 obsolete subtype of a disorder +MONDO:0020308 benign childhood occipital epilepsy, Gastaut type MONDO:8000031 Orphanet:98816 Orphanet:557494 obsolete subtype of a disorder MONDO:0020313 obsolete unclassified myelodysplastic/myeloproliferative disease MONDO:0000001 Orphanet:98825 Orphanet:377788 disease +MONDO:0020313 obsolete unclassified myelodysplastic/myeloproliferative disease MONDO:0020077 Orphanet:98825 Orphanet:98275 myelodysplastic/myeloproliferative disease MONDO:0020315 obsolete unclassified myelodysplastic syndrome MONDO:0000001 Orphanet:98827 Orphanet:377788 disease +MONDO:0020315 obsolete unclassified myelodysplastic syndrome MONDO:0019453 Orphanet:98827 Orphanet:86836 myelodysplastic syndrome with multilineage dysplasia +MONDO:0020316 acute myeloid leukemia with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22) MONDO:0020078 Orphanet:98829 Orphanet:98277 obsolete acute myeloid leukemia with recurrent genetic anomaly +MONDO:0020317 acute myeloid leukemia with 11q23 abnormalities MONDO:0020078 Orphanet:98831 Orphanet:98277 obsolete acute myeloid leukemia with recurrent genetic anomaly +MONDO:0020327 classic Hodgkin lymphoma, nodular sclerosis type MONDO:8000031 Orphanet:98843 Orphanet:557494 obsolete subtype of a disorder +MONDO:0020336 autosomal dominant Emery-Dreifuss muscular dystrophy MONDO:0029810 Orphanet:98853 Orphanet:300755 obsolete laminopathy with striated muscle involvement +MONDO:0020336 autosomal dominant Emery-Dreifuss muscular dystrophy MONDO:8000031 Orphanet:98853 Orphanet:557494 obsolete subtype of a disorder +MONDO:0020339 obsolete X-linked complex spastic paraplegia MONDO:0015150 Orphanet:98888 Orphanet:102013 complex hereditary spastic paraplegia +MONDO:0020340 bilateral perisylvian polymicrogyria MONDO:8000031 Orphanet:98889 Orphanet:557494 obsolete subtype of a disorder +MONDO:0020341 periventricular nodular heterotopia MONDO:8000031 Orphanet:98892 Orphanet:557494 obsolete subtype of a disorder +MONDO:0020343 obsolete alpha-crystallinopathy MONDO:0016188 Orphanet:98910 Orphanet:209044 qualitative or quantitative defects of alphaB-cristallin +MONDO:0020343 obsolete alpha-crystallinopathy MONDO:0018943 Orphanet:98910 Orphanet:593 myofibrillar myopathy +MONDO:0020344 postsynaptic congenital myasthenic syndrome MONDO:8000031 Orphanet:98913 Orphanet:557494 obsolete subtype of a disorder +MONDO:0020345 obsolete presynaptic congenital myasthenic syndrome MONDO:0018940 Orphanet:98914 Orphanet:590 congenital myasthenic syndrome +MONDO:0020345 obsolete presynaptic congenital myasthenic syndrome MONDO:0035862 Orphanet:98914 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome +MONDO:0020345 obsolete presynaptic congenital myasthenic syndrome MONDO:8000031 Orphanet:98914 Orphanet:557494 obsolete subtype of a disorder +MONDO:0020346 obsolete synaptic congenital myasthenic syndrome MONDO:0018940 Orphanet:98915 Orphanet:590 congenital myasthenic syndrome +MONDO:0020346 obsolete synaptic congenital myasthenic syndrome MONDO:8000031 Orphanet:98915 Orphanet:557494 obsolete subtype of a disorder +MONDO:0020351 Blake pouch cyst MONDO:0020133 Orphanet:98922 Orphanet:98519 obsolete posterior fossa malformation +MONDO:0020351 Blake pouch cyst MONDO:8000030 Orphanet:98922 Orphanet:377791 obsolete morphological anomaly +MONDO:0020352 multiple system atrophy, parkinsonian type MONDO:0017635 Orphanet:98933 Orphanet:306666 obsolete parkinsonian syndrome due to neurodegenerative disease +MONDO:0020352 multiple system atrophy, parkinsonian type MONDO:8000031 Orphanet:98933 Orphanet:557494 obsolete subtype of a disorder +MONDO:0020354 coloboma of choroid and retina MONDO:0020145 Orphanet:98942 Orphanet:98553 obsolete developmental defect of the eye +MONDO:0020354 coloboma of choroid and retina MONDO:0026186 Orphanet:98942 Orphanet:183557 obsolete genetic developmental defect of the eye +MONDO:0020354 coloboma of choroid and retina MONDO:8000030 Orphanet:98942 Orphanet:377791 obsolete morphological anomaly +MONDO:0020355 coloboma of eye lens MONDO:0020145 Orphanet:98943 Orphanet:98553 obsolete developmental defect of the eye +MONDO:0020355 coloboma of eye lens MONDO:0020223 Orphanet:98943 Orphanet:98639 obsolete lens and zonula anomaly +MONDO:0020355 coloboma of eye lens MONDO:0026186 Orphanet:98943 Orphanet:183557 obsolete genetic developmental defect of the eye +MONDO:0020355 coloboma of eye lens MONDO:8000030 Orphanet:98943 Orphanet:377791 obsolete morphological anomaly +MONDO:0020356 coloboma of iris MONDO:8000030 Orphanet:98944 Orphanet:377791 obsolete morphological anomaly +MONDO:0020357 coloboma of eyelid MONDO:0020155 Orphanet:98946 Orphanet:98564 obsolete eyelid border anomaly +MONDO:0020357 coloboma of eyelid MONDO:8000030 Orphanet:98946 Orphanet:377791 obsolete morphological anomaly +MONDO:0020359 congenital symblepharon MONDO:8000031 Orphanet:98948 Orphanet:557494 obsolete subtype of a disorder +MONDO:0020360 complete cryptophthalmia MONDO:8000031 Orphanet:98949 Orphanet:557494 obsolete subtype of a disorder +MONDO:0020361 partial cryptophthalmia MONDO:8000031 Orphanet:98950 Orphanet:557494 obsolete subtype of a disorder +MONDO:0020362 inverse Marcus-Gunn phenomenon MONDO:8000031 Orphanet:98951 Orphanet:557494 obsolete subtype of a disorder +MONDO:0020364 posterior polymorphous corneal dystrophy MONDO:0020216 Orphanet:98973 Orphanet:98631 obsolete secondary dysgenetic glaucoma +MONDO:0020367 juvenile open angle glaucoma MONDO:0015485 Orphanet:98977 Orphanet:156005 obsolete primary hereditary glaucoma +MONDO:0020368 Axenfeld anomaly MONDO:8000030 Orphanet:98978 Orphanet:377791 obsolete morphological anomaly +MONDO:0020369 Chandler syndrome MONDO:8000031 Orphanet:98979 Orphanet:557494 obsolete subtype of a disorder +MONDO:0020370 Cogan-Reese syndrome MONDO:8000031 Orphanet:98980 Orphanet:557494 obsolete subtype of a disorder +MONDO:0020371 essential iris atrophy MONDO:8000031 Orphanet:98981 Orphanet:557494 obsolete subtype of a disorder +MONDO:0020375 obsolete coralliform cataract MONDO:0020377 Orphanet:98990 Orphanet:98992 early-onset partial cataract +MONDO:0020377 early-onset partial cataract MONDO:8000031 Orphanet:98992 Orphanet:557494 obsolete subtype of a disorder +MONDO:0020380 autosomal dominant cerebellar ataxia MONDO:0020140 Orphanet:99 Orphanet:98540 obsolete late-onset ataxia with dementia +MONDO:0020385 congenitally uncorrected transposition of the great arteries with coarctation MONDO:8000031 Orphanet:99042 Orphanet:557494 obsolete subtype of a disorder +MONDO:0020386 double outlet right ventricle with subaortic or doubly committed ventricular septal defect with pulmonary stenosis MONDO:8000031 Orphanet:99043 Orphanet:557494 obsolete subtype of a disorder +MONDO:0020387 double outlet right ventricle with subpulmonary ventricular septal defect MONDO:8000031 Orphanet:99045 Orphanet:557494 obsolete subtype of a disorder +MONDO:0020388 double outlet right ventricle with non-committed subpulmonary ventricular septal defect MONDO:8000031 Orphanet:99046 Orphanet:557494 obsolete subtype of a disorder +MONDO:0020389 pulmonary valve agenesis-ventricular septal defect-persistent ductus arteriosus syndrome MONDO:8000032 Orphanet:99048 Orphanet:377789 obsolete malformation syndrome +MONDO:0020390 pulmonary artery coming from patent ductus arteriosus MONDO:8000030 Orphanet:99049 Orphanet:377791 obsolete morphological anomaly +MONDO:0020391 pulmonary artery coming from the aorta MONDO:0015930 Orphanet:99050 Orphanet:182111 obsolete respiratory malformation +MONDO:0020391 pulmonary artery coming from the aorta MONDO:8000030 Orphanet:99050 Orphanet:377791 obsolete morphological anomaly +MONDO:0020392 obsolete discrete fixed membranous subaortic stenosis MONDO:0017727 Orphanet:99051 Orphanet:3092 fixed subaortic stenosis +MONDO:0020392 obsolete discrete fixed membranous subaortic stenosis MONDO:8000031 Orphanet:99051 Orphanet:557494 obsolete subtype of a disorder +MONDO:0020393 discrete fibromuscular subaortic stenosis MONDO:8000031 Orphanet:99052 Orphanet:557494 obsolete subtype of a disorder +MONDO:0020394 tunnel subaortic stenosis MONDO:8000031 Orphanet:99053 Orphanet:557494 obsolete subtype of a disorder +MONDO:0020395 valvar pulmonary stenosis MONDO:8000031 Orphanet:99054 Orphanet:557494 obsolete subtype of a disorder +MONDO:0020396 anomaly of the tricuspid valve chordae MONDO:0019816 Orphanet:99055 Orphanet:95463 obsolete anomaly of the tricuspid subvalvular apparatus +MONDO:0020396 anomaly of the tricuspid valve chordae MONDO:8000030 Orphanet:99055 Orphanet:377791 obsolete morphological anomaly +MONDO:0020397 parachute tricuspid valve MONDO:0019816 Orphanet:99056 Orphanet:95463 obsolete anomaly of the tricuspid subvalvular apparatus +MONDO:0020397 parachute tricuspid valve MONDO:8000030 Orphanet:99056 Orphanet:377791 obsolete morphological anomaly +MONDO:0020398 congenital mitral stenosis MONDO:8000030 Orphanet:99057 Orphanet:377791 obsolete morphological anomaly +MONDO:0020399 congenital hypoplasia of the mitral valve annulus MONDO:8000030 Orphanet:99058 Orphanet:377791 obsolete morphological anomaly +MONDO:0020400 congenital supravalvular mitral ring MONDO:8000030 Orphanet:99059 Orphanet:377791 obsolete morphological anomaly +MONDO:0020401 congenital unguarded mitral orifice MONDO:8000030 Orphanet:99060 Orphanet:377791 obsolete morphological anomaly +MONDO:0020402 congenital accessory mitral valve tissue MONDO:8000030 Orphanet:99061 Orphanet:377791 obsolete morphological anomaly +MONDO:0020403 congenital mitral valve agenesis MONDO:8000030 Orphanet:99062 Orphanet:377791 obsolete morphological anomaly +MONDO:0020404 shone complex MONDO:8000032 Orphanet:99063 Orphanet:377789 obsolete malformation syndrome +MONDO:0020405 straddling and/or overriding mitral valve MONDO:8000031 Orphanet:99064 Orphanet:557494 obsolete subtype of a disorder +MONDO:0020407 complete atrioventricular canal-ventricle hypoplasia syndrome MONDO:8000031 Orphanet:99067 Orphanet:557494 obsolete subtype of a disorder +MONDO:0020408 complete atrioventricular canal-tetralogy of fallot syndrome MONDO:8000031 Orphanet:99068 Orphanet:557494 obsolete subtype of a disorder +MONDO:0020410 aorto-right ventricular tunnel MONDO:8000031 Orphanet:99070 Orphanet:557494 obsolete subtype of a disorder +MONDO:0020411 aorto-left ventricular tunnel MONDO:8000031 Orphanet:99071 Orphanet:557494 obsolete subtype of a disorder +MONDO:0020412 congenital patent ductus arteriosus aneurysm MONDO:0019822 Orphanet:99072 Orphanet:95485 obsolete arterial duct anomaly +MONDO:0020412 congenital patent ductus arteriosus aneurysm MONDO:8000030 Orphanet:99072 Orphanet:377791 obsolete morphological anomaly +MONDO:0020413 encircling double aortic arch MONDO:8000030 Orphanet:99075 Orphanet:377791 obsolete morphological anomaly +MONDO:0020414 persistent fifth aortic arch MONDO:8000030 Orphanet:99076 Orphanet:377791 obsolete morphological anomaly +MONDO:0020415 Kommerell diverticulum MONDO:8000030 Orphanet:99077 Orphanet:377791 obsolete morphological anomaly +MONDO:0020416 Neuhauser anomaly MONDO:8000030 Orphanet:99078 Orphanet:377791 obsolete morphological anomaly +MONDO:0020417 right aortic arch MONDO:8000030 Orphanet:99081 Orphanet:377791 obsolete morphological anomaly +MONDO:0020418 dysphagia lusoria MONDO:8000030 Orphanet:99082 Orphanet:377791 obsolete morphological anomaly +MONDO:0020419 pulmonary artery hypoplasia MONDO:0015930 Orphanet:99083 Orphanet:182111 obsolete respiratory malformation +MONDO:0020419 pulmonary artery hypoplasia MONDO:0020287 Orphanet:99083 Orphanet:98719 obsolete pulmonary artery or pulmonary branch anomaly +MONDO:0020419 pulmonary artery hypoplasia MONDO:8000030 Orphanet:99083 Orphanet:377791 obsolete morphological anomaly +MONDO:0020420 pulmonary branch stenosis MONDO:0020287 Orphanet:99084 Orphanet:98719 obsolete pulmonary artery or pulmonary branch anomaly +MONDO:0020420 pulmonary branch stenosis MONDO:8000030 Orphanet:99084 Orphanet:377791 obsolete morphological anomaly +MONDO:0020423 stenosis or atrophy of the coronary ostium MONDO:0035274 Orphanet:99087 Orphanet:542822 obsolete anomaly of the coronary ostia +MONDO:0020423 stenosis or atrophy of the coronary ostium MONDO:8000030 Orphanet:99087 Orphanet:377791 obsolete morphological anomaly +MONDO:0020425 abnormal number of coronary ostia MONDO:0035274 Orphanet:99089 Orphanet:542822 obsolete anomaly of the coronary ostia +MONDO:0020425 abnormal number of coronary ostia MONDO:8000030 Orphanet:99089 Orphanet:377791 obsolete morphological anomaly +MONDO:0020426 malposition of the coronary ostium MONDO:0035274 Orphanet:99090 Orphanet:542822 obsolete anomaly of the coronary ostia +MONDO:0020426 malposition of the coronary ostium MONDO:8000030 Orphanet:99090 Orphanet:377791 obsolete morphological anomaly +MONDO:0020427 Laubry-Pezzi syndrome MONDO:0018771 Orphanet:99094 Orphanet:474347 obsolete congenital anomaly of ventricular septum +MONDO:0020427 Laubry-Pezzi syndrome MONDO:8000030 Orphanet:99094 Orphanet:377791 obsolete morphological anomaly +MONDO:0020428 congenital Gerbode defect MONDO:8000030 Orphanet:99095 Orphanet:377791 obsolete morphological anomaly +MONDO:0020429 cor triatriatum dexter MONDO:8000030 Orphanet:99098 Orphanet:377791 obsolete morphological anomaly +MONDO:0020430 cor triatriatum sinister MONDO:8000030 Orphanet:99099 Orphanet:377791 obsolete morphological anomaly +MONDO:0020431 juxtaposition of the atrial appendages MONDO:0019837 Orphanet:99100 Orphanet:95510 obsolete atrial appendage anomaly +MONDO:0020431 juxtaposition of the atrial appendages MONDO:8000030 Orphanet:99100 Orphanet:377791 obsolete morphological anomaly +MONDO:0020432 ectasia of the right atrial appendage MONDO:0019837 Orphanet:99101 Orphanet:95510 obsolete atrial appendage anomaly +MONDO:0020432 ectasia of the right atrial appendage MONDO:8000030 Orphanet:99101 Orphanet:377791 obsolete morphological anomaly +MONDO:0020433 ectasia of the left appendage MONDO:0019837 Orphanet:99102 Orphanet:95510 obsolete atrial appendage anomaly +MONDO:0020433 ectasia of the left appendage MONDO:8000030 Orphanet:99102 Orphanet:377791 obsolete morphological anomaly +MONDO:0020434 atrial septal defect, ostium secundum type MONDO:8000031 Orphanet:99103 Orphanet:557494 obsolete subtype of a disorder +MONDO:0020435 atrial septal defect, coronary sinus type MONDO:8000031 Orphanet:99104 Orphanet:557494 obsolete subtype of a disorder +MONDO:0020436 atrial septal defect, sinus venosus type MONDO:8000031 Orphanet:99105 Orphanet:557494 obsolete subtype of a disorder +MONDO:0020437 atrial septal defect, ostium primum type MONDO:8000031 Orphanet:99106 Orphanet:557494 obsolete subtype of a disorder +MONDO:0020438 atrial septal aneurysm MONDO:0020294 Orphanet:99107 Orphanet:98727 obsolete atrial defect and interatrial communication +MONDO:0020438 atrial septal aneurysm MONDO:8000030 Orphanet:99107 Orphanet:377791 obsolete morphological anomaly +MONDO:0020440 persistent left superior vena cava connecting to the left-sided atrium MONDO:8000030 Orphanet:99109 Orphanet:377791 obsolete morphological anomaly +MONDO:0020441 right superior vena cava connecting to left-sided atrium MONDO:8000030 Orphanet:99110 Orphanet:377791 obsolete morphological anomaly +MONDO:0020442 left superior vena cava persisting to left-sided atrium MONDO:8000030 Orphanet:99111 Orphanet:377791 obsolete morphological anomaly +MONDO:0020443 absence of innominate vein MONDO:8000030 Orphanet:99112 Orphanet:377791 obsolete morphological anomaly +MONDO:0020444 subaortic course of innominate vein MONDO:8000030 Orphanet:99113 Orphanet:377791 obsolete morphological anomaly +MONDO:0020445 agenesis of the superior vena cava MONDO:8000030 Orphanet:99114 Orphanet:377791 obsolete morphological anomaly +MONDO:0020446 coronary sinus stenosis MONDO:0019831 Orphanet:99117 Orphanet:95500 obsolete congenital anomaly of the coronary sinus +MONDO:0020446 coronary sinus stenosis MONDO:8000030 Orphanet:99117 Orphanet:377791 obsolete morphological anomaly +MONDO:0020447 coronary sinus atresia MONDO:0019831 Orphanet:99118 Orphanet:95500 obsolete congenital anomaly of the coronary sinus +MONDO:0020447 coronary sinus atresia MONDO:8000030 Orphanet:99118 Orphanet:377791 obsolete morphological anomaly +MONDO:0020448 right inferior vena cava connecting to left-sided atrium MONDO:8000030 Orphanet:99119 Orphanet:377791 obsolete morphological anomaly +MONDO:0020449 persistent eustachian valve MONDO:8000030 Orphanet:99120 Orphanet:377791 obsolete morphological anomaly +MONDO:0020450 azygos continuation of the inferior vena cava MONDO:8000030 Orphanet:99121 Orphanet:377791 obsolete morphological anomaly +MONDO:0020451 congenital stenosis of the inferior vena cava MONDO:8000030 Orphanet:99122 Orphanet:377791 obsolete morphological anomaly +MONDO:0020452 inferior vena cava interruption MONDO:8000030 Orphanet:99123 Orphanet:377791 obsolete morphological anomaly +MONDO:0020453 congenital partial pulmonary venous return anomaly MONDO:8000030 Orphanet:99124 Orphanet:377791 obsolete morphological anomaly +MONDO:0020454 congenital complete agenesis of pericardium MONDO:8000030 Orphanet:99129 Orphanet:377791 obsolete morphological anomaly +MONDO:0020455 congenital partial agenesis of pericardium MONDO:8000030 Orphanet:99130 Orphanet:377791 obsolete morphological anomaly +MONDO:0020456 pleuro-pericardial cyst MONDO:8000030 Orphanet:99131 Orphanet:377791 obsolete morphological anomaly +MONDO:0020457 6-phosphogluconate dehydrogenase deficiency MONDO:0020105 Orphanet:99135 Orphanet:98370 obsolete hemolytic anemia due to hexose monophosphate shunt and glutathione metabolism anomalies +MONDO:0020458 hemolytic anemia due to erythrocyte adenosine deaminase overproduction MONDO:0020107 Orphanet:99138 Orphanet:98374 obsolete hemolytic anemia due to an erythrocyte nucleotide metabolism disorder +MONDO:0020460 acquired von willebrand syndrome MONDO:0015662 Orphanet:99147 Orphanet:166775 obsolete hemorrhagic disorder due to an acquired coagulation factor defect +MONDO:0020461 epiblepharon MONDO:0020158 Orphanet:99169 Orphanet:98567 obsolete eyelids malposition disorder +MONDO:0020461 epiblepharon MONDO:8000030 Orphanet:99169 Orphanet:377791 obsolete morphological anomaly +MONDO:0020462 tarsal kink syndrome MONDO:0034926 Orphanet:99170 Orphanet:519270 obsolete rare disorder with entropion +MONDO:0020462 tarsal kink syndrome MONDO:8000030 Orphanet:99170 Orphanet:377791 obsolete morphological anomaly +MONDO:0020463 isolated congenital ectropion MONDO:8000030 Orphanet:99171 Orphanet:377791 obsolete morphological anomaly +MONDO:0020464 euryblepharon MONDO:0020158 Orphanet:99172 Orphanet:98567 obsolete eyelids malposition disorder +MONDO:0020464 euryblepharon MONDO:8000030 Orphanet:99172 Orphanet:377791 obsolete morphological anomaly +MONDO:0020465 congenital eyelid retraction MONDO:0020152 Orphanet:99176 Orphanet:98561 obsolete rare eyelid malformation +MONDO:0020465 congenital eyelid retraction MONDO:8000030 Orphanet:99176 Orphanet:377791 obsolete morphological anomaly +MONDO:0020466 monosomy X MONDO:8000031 Orphanet:99226 Orphanet:557494 obsolete subtype of a disorder +MONDO:0020467 mosaic monosomy X MONDO:8000031 Orphanet:99228 Orphanet:557494 obsolete subtype of a disorder +MONDO:0020468 paternal uniparental disomy of chromosome 13 MONDO:0020057 Orphanet:99324 Orphanet:98154 obsolete uniparental disomy of paternal origin +MONDO:0020468 paternal uniparental disomy of chromosome 13 MONDO:8000032 Orphanet:99324 Orphanet:377789 obsolete malformation syndrome +MONDO:0020469 48,XYYY syndrome MONDO:0015620 Orphanet:99329 Orphanet:165707 obsolete syndromic urogenital tract malformation +MONDO:0020469 48,XYYY syndrome MONDO:0017005 Orphanet:99329 Orphanet:263746 obsolete Y chromosome number anomaly +MONDO:0020469 48,XYYY syndrome MONDO:0020090 Orphanet:99329 Orphanet:98313 obsolete male infertility due to gonadal dysgenesis +MONDO:0020469 48,XYYY syndrome MONDO:0035863 Orphanet:99329 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0020469 48,XYYY syndrome MONDO:8000032 Orphanet:99329 Orphanet:377789 obsolete malformation syndrome +MONDO:0020470 49,XYYYY syndrome MONDO:0017005 Orphanet:99330 Orphanet:263746 obsolete Y chromosome number anomaly +MONDO:0020470 49,XYYYY syndrome MONDO:0043008 Orphanet:99330 Orphanet:330206 obsolete genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability +MONDO:0020470 49,XYYYY syndrome MONDO:8000032 Orphanet:99330 Orphanet:377789 obsolete malformation syndrome +MONDO:0020472 Turner syndrome due to structural X chromosome anomalies MONDO:8000031 Orphanet:99413 Orphanet:557494 obsolete subtype of a disorder +MONDO:0020474 cheirospondyloenchondromatosis MONDO:0800089 Orphanet:99647 Orphanet:93450 obsolete primary bone dysplasia with disorganized development of skeletal components +MONDO:0020475 dermotrichic syndrome MONDO:8000032 Orphanet:99688 Orphanet:377789 obsolete malformation syndrome +MONDO:0020478 Leber plus disease MONDO:0016327 Orphanet:99718 Orphanet:217587 obsolete mitochondrial disease with hypertrophic cardiomyopathy +MONDO:0020478 Leber plus disease MONDO:0016335 Orphanet:99718 Orphanet:217613 obsolete mitochondrial disease with dilated cardiomyopathy +MONDO:0020478 Leber plus disease MONDO:0016793 Orphanet:99718 Orphanet:254776 obsolete mitochondrial oxidative phosphorylation disorder due to a point mutation of mitochondrial DNA +MONDO:0020480 sulfite oxidase deficiency due to molybdenum cofactor deficiency MONDO:0017760 Orphanet:99732 Orphanet:309833 obsolete disorder of other vitamins and cofactors metabolism and transport +MONDO:0020480 sulfite oxidase deficiency due to molybdenum cofactor deficiency MONDO:8000031 Orphanet:99732 Orphanet:557494 obsolete subtype of a disorder +MONDO:0020484 obsolete rare familial disorder with hypertrophic cardiomyopathy MONDO:0005045 Orphanet:99739 Orphanet:217569 hypertrophic cardiomyopathy +MONDO:0020484 obsolete rare familial disorder with hypertrophic cardiomyopathy MONDO:0020029 Orphanet:99739 Orphanet:98054 obsolete rare genetic cardiac disease +MONDO:0020485 King-Denborough syndrome MONDO:0015329 Orphanet:99741 Orphanet:139021 obsolete malformation syndrome with short stature +MONDO:0020485 King-Denborough syndrome MONDO:0018753 Orphanet:99741 Orphanet:466658 obsolete rare disease with malignant hyperthermia +MONDO:0020485 King-Denborough syndrome MONDO:0026187 Orphanet:99741 Orphanet:183570 obsolete genetic malformation syndrome with short stature +MONDO:0020485 King-Denborough syndrome MONDO:0035863 Orphanet:99741 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0020485 King-Denborough syndrome MONDO:8000032 Orphanet:99741 Orphanet:377789 obsolete malformation syndrome +MONDO:0020488 atypical progressive supranuclear palsy syndrome MONDO:8000031 Orphanet:99750 Orphanet:557494 obsolete subtype of a disorder +MONDO:0020490 mosaic trisomy 9 MONDO:0020051 Orphanet:99776 Orphanet:98131 obsolete total autosomal trisomy +MONDO:0020490 mosaic trisomy 9 MONDO:8000032 Orphanet:99776 Orphanet:377789 obsolete malformation syndrome +MONDO:0020491 subcortical band heterotopia MONDO:0015572 Orphanet:99796 Orphanet:163209 obsolete cerebral malformation due to abnormal neuronal migration +MONDO:0020491 subcortical band heterotopia MONDO:8000030 Orphanet:99796 Orphanet:377791 obsolete morphological anomaly +MONDO:0020492 hemimegalencephaly MONDO:0015655 Orphanet:99802 Orphanet:166478 obsolete cerebral malformation with epilepsy +MONDO:0020492 hemimegalencephaly MONDO:0016054 Orphanet:99802 Orphanet:199633 obsolete cerebral malformation +MONDO:0020492 hemimegalencephaly MONDO:0035162 Orphanet:99802 Orphanet:530313 obsolete PIK3CA-related overgrowth syndrome +MONDO:0020492 hemimegalencephaly MONDO:8000032 Orphanet:99802 Orphanet:377789 obsolete malformation syndrome +MONDO:0020493 Haddad syndrome MONDO:0015118 Orphanet:99803 Orphanet:101944 obsolete rare pulmonary disease +MONDO:0020493 Haddad syndrome MONDO:0015184 Orphanet:99803 Orphanet:104009 obsolete rare disease involving intestinal motility +MONDO:0020493 Haddad syndrome MONDO:0015510 Orphanet:99803 Orphanet:156610 obsolete rare genetic respiratory disease +MONDO:0020493 Haddad syndrome MONDO:0018497 Orphanet:99803 Orphanet:423662 obsolete rare autonomic nervous system disorder +MONDO:0020493 Haddad syndrome MONDO:0018557 Orphanet:99803 Orphanet:434786 obsolete rare genetic autonomic nervous system disorder +MONDO:0020493 Haddad syndrome MONDO:0020253 Orphanet:99803 Orphanet:98683 obsolete syndrome with a symptomatic strabismus +MONDO:0020493 Haddad syndrome MONDO:0035340 Orphanet:99803 Orphanet:557866 obsolete rare disorder with hirschsprung disease as a major feature +MONDO:0020493 Haddad syndrome MONDO:8000032 Orphanet:99803 Orphanet:377789 obsolete malformation syndrome +MONDO:0020494 oculootodental syndrome MONDO:0015336 Orphanet:99806 Orphanet:139042 obsolete malformation syndrome with odontal and/or periodontal component +MONDO:0020494 oculootodental syndrome MONDO:0026190 Orphanet:99806 Orphanet:183580 obsolete genetic malformation syndrome with odontal and/or periodontal component +MONDO:0020494 oculootodental syndrome MONDO:8000032 Orphanet:99806 Orphanet:377789 obsolete malformation syndrome +MONDO:0020495 PEHO-like syndrome MONDO:0035471 Orphanet:99807 Orphanet:568047 obsolete disorder with multisystemic involvement and primary lymphedema +MONDO:0020496 familial porencephaly MONDO:0018790 Orphanet:99810 Orphanet:477765 obsolete COL4A1 or COL4A2-related cerebral small vessel disease with hemorrhagic tendancy +MONDO:0020496 familial porencephaly MONDO:8000031 Orphanet:99810 Orphanet:557494 obsolete subtype of a disorder +MONDO:0020497 Turcot syndrome with polyposis MONDO:0016756 Orphanet:99818 Orphanet:252190 obsolete inherited nervous system cancer-predisposing syndrome +MONDO:0020497 Turcot syndrome with polyposis MONDO:8000031 Orphanet:99818 Orphanet:557494 obsolete subtype of a disorder +MONDO:0020504 hereditary recurrent myoglobinuria MONDO:0016117 Orphanet:99845 Orphanet:206953 obsolete muscular lipidosis +MONDO:0020504 hereditary recurrent myoglobinuria MONDO:0018120 Orphanet:99845 Orphanet:352312 obsolete disorder of phospholipids, sphingolipids and fatty acids biosynthesis with skeletal muscle predominant involvement +MONDO:0020504 hereditary recurrent myoglobinuria MONDO:0019602 Orphanet:99845 Orphanet:91088 obsolete other inborn metabolic disease +MONDO:0020506 obsolete ovarioleukodystrophy MONDO:0800448 Orphanet:99853 Orphanet:135 leukoencephalopathy with vanishing white matter +MONDO:0020506 obsolete ovarioleukodystrophy MONDO:8000031 Orphanet:99853 Orphanet:557494 obsolete subtype of a disorder +MONDO:0020507 leukoencephalopathy with vanishing white matter 1 MONDO:8000031 Orphanet:99854 Orphanet:557494 obsolete subtype of a disorder +MONDO:0020508 primary syringomyelia MONDO:0017085 Orphanet:99856 Orphanet:268843 obsolete malformation of the neurenteric canal, spinal cord and column +MONDO:0020508 primary syringomyelia MONDO:8000030 Orphanet:99856 Orphanet:377791 obsolete morphological anomaly +MONDO:0020510 idiopathic syringomyelia MONDO:8000031 Orphanet:99858 Orphanet:557494 obsolete subtype of a disorder +MONDO:0020516 thymic neuroendocrine carcinoma MONDO:0015081 Orphanet:99869 Orphanet:100101 obsolete neuroendocrine tumor with other location +MONDO:0020526 acute megakaryoblastic leukemia in down syndrome MONDO:8000031 Orphanet:99887 Orphanet:557494 obsolete subtype of a disorder +MONDO:0020528 ACTH-dependent Cushing syndrome MONDO:0018387 Orphanet:99892 Orphanet:399584 obsolete rare male infertility due to adrenal disorder +MONDO:0020528 ACTH-dependent Cushing syndrome MONDO:0018400 Orphanet:99892 Orphanet:399849 obsolete rare female infertility due to an adrenal disorder +MONDO:0020530 Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR1 deficiency MONDO:0017897 Orphanet:99898 Orphanet:319535 obsolete autosomal recessive mendelian susceptibility to mycobacterial diseases due to a complete deficiency +MONDO:0020532 spirillary rat-bite fever MONDO:8000031 Orphanet:99903 Orphanet:557494 obsolete subtype of a disorder +MONDO:0020533 streptobacillary rat-bite fever MONDO:8000031 Orphanet:99905 Orphanet:557494 obsolete subtype of a disorder +MONDO:0020537 obsolete occupational allergic alveolitis MONDO:0017853 Orphanet:99909 Orphanet:31740 hypersensitivity pneumonitis +MONDO:0020544 streptococcal toxic-shock syndrome MONDO:8000031 Orphanet:99918 Orphanet:557494 obsolete subtype of a disorder +MONDO:0020545 staphylococcal toxic-shock syndrome MONDO:8000031 Orphanet:99919 Orphanet:557494 obsolete subtype of a disorder +MONDO:0020546 acute graft versus host disease MONDO:8000031 Orphanet:99920 Orphanet:557494 obsolete subtype of a disorder +MONDO:0020547 chronic graft versus host disease MONDO:8000031 Orphanet:99921 Orphanet:557494 obsolete subtype of a disorder +MONDO:0020548 ocular pemphigoid MONDO:0020198 Orphanet:99922 Orphanet:98610 obsolete rare conjunctival disease +MONDO:0020553 secondary pulmonary hemosiderosis MONDO:0017034 Orphanet:99930 Orphanet:264944 obsolete secondary interstitial lung disease in childhood and adulthood +MONDO:0020554 Heiner syndrome MONDO:8000031 Orphanet:99932 Orphanet:557494 obsolete subtype of a disorder +MONDO:0020555 pleuropulmonary blastoma type 1 MONDO:8000031 Orphanet:99933 Orphanet:557494 obsolete subtype of a disorder +MONDO:0020556 pleuropulmonary blastoma type 2 MONDO:8000031 Orphanet:99934 Orphanet:557494 obsolete subtype of a disorder +MONDO:0020557 pleuropulmonary blastoma type 3 MONDO:8000031 Orphanet:99935 Orphanet:557494 obsolete subtype of a disorder +MONDO:0020560 atypical teratoid rhabdoid tumor MONDO:0016708 Orphanet:99966 Orphanet:251852 obsolete embryonal tumor of neuroepithelial tissue +MONDO:0020561 myxoid/round cell liposarcoma MONDO:8000031 Orphanet:99967 Orphanet:557494 obsolete subtype of a disorder +MONDO:0020562 pleomorphic liposarcoma MONDO:8000031 Orphanet:99969 Orphanet:557494 obsolete subtype of a disorder +MONDO:0020563 dedifferentiated liposarcoma MONDO:8000031 Orphanet:99970 Orphanet:557494 obsolete subtype of a disorder +MONDO:0020567 apnea of prematurity MONDO:0015118 Orphanet:99981 Orphanet:101944 obsolete rare pulmonary disease +MONDO:0020571 relapsing epidemic typhus MONDO:8000031 Orphanet:99991 Orphanet:557494 obsolete subtype of a disorder +MONDO:0020572 complex regional pain syndrome type 2 MONDO:8000031 Orphanet:99994 Orphanet:557494 obsolete subtype of a disorder +MONDO:0020603 X-linked chondrodysplasia punctata 2 MONDO:0020232 Orphanet:35173 Orphanet:98648 obsolete musculoskeletal disease with cataract +MONDO:0020659 upper tract urothelial carcinoma MONDO:0020032 Orphanet:598216 Orphanet:98058 obsolete rare urinary tract tumor +MONDO:0020667 Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis MONDO:8000031 Orphanet:596008 Orphanet:557494 obsolete subtype of a disorder +MONDO:0020693 glycogen storage disease due to liver phosphorylase kinase deficiency MONDO:0015115 Orphanet:264580 Orphanet:101940 obsolete rare genetic metabolic liver disease +MONDO:0020693 glycogen storage disease due to liver phosphorylase kinase deficiency MONDO:0018251 Orphanet:264580 Orphanet:370 obsolete glycogen storage disease due to phosphorylase kinase deficiency +MONDO:0020726 tubulointerstitial kidney disease, autosomal dominant, 2 MONDO:0022409 Orphanet:88949 Orphanet:156162 obsolete nephropathy-associated ciliopathy +MONDO:0020726 tubulointerstitial kidney disease, autosomal dominant, 2 MONDO:8000031 Orphanet:88949 Orphanet:557494 obsolete subtype of a disorder +MONDO:0020774 Menke-Hennekam syndrome MONDO:0015329 Orphanet:592574 Orphanet:139021 obsolete malformation syndrome with short stature +MONDO:0020774 Menke-Hennekam syndrome MONDO:0019721 Orphanet:592574 Orphanet:93547 obsolete syndromic renal or urinary tract malformation +MONDO:0020774 Menke-Hennekam syndrome MONDO:0026187 Orphanet:592574 Orphanet:183570 obsolete genetic malformation syndrome with short stature +MONDO:0020774 Menke-Hennekam syndrome MONDO:0035863 Orphanet:592574 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0020774 Menke-Hennekam syndrome MONDO:8000032 Orphanet:592574 Orphanet:377789 obsolete malformation syndrome +MONDO:0020781 encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 1 MONDO:0015918 Orphanet:555407 Orphanet:182070 obsolete rare neurodegenerative disease +MONDO:0020781 encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 1 MONDO:0019058 Orphanet:555407 Orphanet:68385 obsolete neurometabolic disease +MONDO:0020781 encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 1 MONDO:0019602 Orphanet:555407 Orphanet:91088 obsolete other inborn metabolic disease +MONDO:0020831 congenital vertebral-cardiac-renal anomalies syndrome MONDO:0015506 Orphanet:521438 Orphanet:156532 obsolete rare syndrome with cardiac malformations +MONDO:0020831 congenital vertebral-cardiac-renal anomalies syndrome MONDO:0019589 Orphanet:521438 Orphanet:90642 obsolete syndromic genetic hearing loss +MONDO:0020831 congenital vertebral-cardiac-renal anomalies syndrome MONDO:0019721 Orphanet:521438 Orphanet:93547 obsolete syndromic renal or urinary tract malformation +MONDO:0020831 congenital vertebral-cardiac-renal anomalies syndrome MONDO:0043008 Orphanet:521438 Orphanet:330206 obsolete genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability +MONDO:0020831 congenital vertebral-cardiac-renal anomalies syndrome MONDO:8000032 Orphanet:521438 Orphanet:377789 obsolete malformation syndrome +MONDO:0020999 obsolete genetic chronic primary adrenal insufficiency MONDO:0015129 Orphanet:101960 Orphanet:101959 chronic primary adrenal insufficiency +MONDO:0020999 obsolete genetic chronic primary adrenal insufficiency MONDO:0015971 Orphanet:101960 Orphanet:183637 obsolete rare genetic adrenal disease +MONDO:0021005 faciodigitogenital syndrome MONDO:0015329 Orphanet:915 Orphanet:139021 obsolete malformation syndrome with short stature +MONDO:0021005 faciodigitogenital syndrome MONDO:0015620 Orphanet:915 Orphanet:165707 obsolete syndromic urogenital tract malformation +MONDO:0021005 faciodigitogenital syndrome MONDO:0026187 Orphanet:915 Orphanet:183570 obsolete genetic malformation syndrome with short stature +MONDO:0021005 faciodigitogenital syndrome MONDO:0035863 Orphanet:915 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0021005 faciodigitogenital syndrome MONDO:8000032 Orphanet:915 Orphanet:377789 obsolete malformation syndrome +MONDO:0021020 Crigler-Najjar syndrome type 1 MONDO:8000031 Orphanet:79234 Orphanet:557494 obsolete subtype of a disorder +MONDO:0021022 hereditary hyperekplexia MONDO:0015957 Orphanet:3197 Orphanet:183521 obsolete rare genetic movement disorder +MONDO:0021022 hereditary hyperekplexia MONDO:0019058 Orphanet:3197 Orphanet:68385 obsolete neurometabolic disease +MONDO:0021022 hereditary hyperekplexia MONDO:0035862 Orphanet:3197 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome +MONDO:0021026 hereditary epidermal appendage anomaly MONDO:0019043 Orphanet:183447 Orphanet:68346 obsolete rare genetic skin disease +MONDO:0021027 obsolete genetic hair anomaly MONDO:0021026 Orphanet:183450 Orphanet:183447 hereditary epidermal appendage anomaly +MONDO:0021028 obsolete genetic nail anomaly MONDO:0021026 Orphanet:183454 Orphanet:183447 hereditary epidermal appendage anomaly +MONDO:0021034 obsolete hereditary alopecia MONDO:0021027 Orphanet:481771 Orphanet:183450 obsolete genetic hair anomaly +MONDO:0021037 obsolete genetic neurodegenerative disease with dementia MONDO:0015547 Orphanet:276058 Orphanet:158124 hereditary dementia +MONDO:0021037 obsolete genetic neurodegenerative disease with dementia MONDO:0024237 Orphanet:276058 Orphanet:183500 inherited neurodegenerative disorder +MONDO:0021042 glioma MONDO:0016679 Orphanet:182067 Orphanet:251558 obsolete rare tumor of neuroepithelial tissue +MONDO:0021055 classic familial adenomatous polyposis MONDO:0017128 Orphanet:733 Orphanet:271835 obsolete inherited digestive tract tumor +MONDO:0021055 classic familial adenomatous polyposis MONDO:0018188 Orphanet:733 Orphanet:363314 obsolete hereditary intestinal polyposis +MONDO:0021060 RASopathy MONDO:0021198 Orphanet:536391 Orphanet:98053 obsolete rare genetic disease +MONDO:0021102 prostate phyllodes tumor MONDO:0020032 Orphanet:498228 Orphanet:98058 obsolete rare urinary tract tumor +MONDO:0021106 laminopathy MONDO:0021198 Orphanet:98301 Orphanet:98053 obsolete rare genetic disease +MONDO:0021107 narcolepsy MONDO:0019045 Orphanet:619284 Orphanet:68354 obsolete rare sleep disorder +MONDO:0021133 acquired factor XIII deficiency MONDO:0015662 Orphanet:599513 Orphanet:166775 obsolete hemorrhagic disorder due to an acquired coagulation factor defect +MONDO:0021134 acquired factor X deficiency MONDO:0015662 Orphanet:599501 Orphanet:166775 obsolete hemorrhagic disorder due to an acquired coagulation factor defect +MONDO:0021154 dermis disorder MONDO:0019291 Orphanet:79381 Orphanet:79377 obsolete rare genetic dermis disorder +MONDO:0021172 Timothy syndrome, atypical type MONDO:8000031 Orphanet:595109 Orphanet:557494 obsolete subtype of a disorder +MONDO:0021176 autoimmune hepatitis type 2 MONDO:8000031 Orphanet:563581 Orphanet:557494 obsolete subtype of a disorder +MONDO:0021181 inherited blood coagulation disorder MONDO:0015549 Orphanet:183654 Orphanet:158300 obsolete rare genetic hematologic disease +MONDO:0021198 obsolete rare genetic disease MONDO:8000033 Orphanet:98053 Orphanet:557492 obsolete group of disorders +MONDO:0021227 adrenal gland neoplasm MONDO:0015124 Orphanet:100091 Orphanet:101954 obsolete rare adrenal disease +MONDO:0021227 adrenal gland neoplasm MONDO:0015936 Orphanet:100091 Orphanet:182130 obsolete rare tumor of endocrine glands +MONDO:0021272 inherited orthostatic hypotension MONDO:0035013 Orphanet:448426 Orphanet:521232 obsolete genetic primary orthostatic disorder +MONDO:0021548 total early-onset cataract MONDO:8000031 Orphanet:98994 Orphanet:557494 obsolete subtype of a disorder +MONDO:0021651 synpolydactyly MONDO:8000030 Orphanet:93403 Orphanet:377791 obsolete morphological anomaly +MONDO:0021660 deep seated dermatophytosis MONDO:0015578 Orphanet:397587 Orphanet:163591 obsolete rare mycosis +MONDO:0021690 obsolete congenital left ventricular aneurysm MONDO:0019512 Orphanet:1055 Orphanet:88991 congenital heart malformation +MONDO:0021690 obsolete congenital left ventricular aneurysm MONDO:8000032 Orphanet:1055 Orphanet:377789 obsolete malformation syndrome +MONDO:0022177 chromosome 13q trisomy MONDO:0020052 Orphanet:262932 Orphanet:98132 obsolete partial autosomal trisomy/tetrasomy +MONDO:0022397 obsolete retinal ciliopathy due to mutation in the retinitis pigmentosa-1 gene MONDO:0022410 Orphanet:156168 Orphanet:156165 retinal ciliopathy +MONDO:0022399 obsolete retinal ciliopathy due to mutation in the RPGR gene MONDO:0022410 Orphanet:156171 Orphanet:156165 retinal ciliopathy +MONDO:0022400 obsolete retinal ciliopathy due to mutation in the RPGRIP gene MONDO:0022410 Orphanet:156174 Orphanet:156165 retinal ciliopathy +MONDO:0022404 obsolete retinal ciliopathy due to mutation in Usher gene MONDO:0022410 Orphanet:156177 Orphanet:156165 retinal ciliopathy +MONDO:0022405 obsolete retinal ciliopathy due to mutation in nephronophthisis gene MONDO:0022410 Orphanet:156180 Orphanet:156165 retinal ciliopathy +MONDO:0022407 obsolete retinal ciliopathy due to mutation in Bardet-Biedl gene MONDO:0022410 Orphanet:156183 Orphanet:156165 retinal ciliopathy +MONDO:0022409 obsolete nephropathy-associated ciliopathy MONDO:0005308 Orphanet:156162 Orphanet:363250 ciliopathy +MONDO:0022760 chromosome 22q deletion MONDO:0020054 Orphanet:262182 Orphanet:98142 obsolete partial autosomal monosomy +MONDO:0022800 type 2 collagenopathy MONDO:0031799 Orphanet:93421 Orphanet:364803 obsolete rare bone disease related to a common gene or pathway defect +MONDO:0022825 congenital cystic eye MONDO:8000030 Orphanet:519384 Orphanet:377791 obsolete morphological anomaly +MONDO:0022851 Dennis-Fairhurst-Moore syndrome MONDO:0015329 Orphanet:2109 Orphanet:139021 obsolete malformation syndrome with short stature +MONDO:0022851 Dennis-Fairhurst-Moore syndrome MONDO:0019699 Orphanet:2109 Orphanet:93440 obsolete slender bone dysplasia +MONDO:0022851 Dennis-Fairhurst-Moore syndrome MONDO:0020234 Orphanet:2109 Orphanet:98650 obsolete craniofacial anomaly with cataract +MONDO:0022851 Dennis-Fairhurst-Moore syndrome MONDO:0026187 Orphanet:2109 Orphanet:183570 obsolete genetic malformation syndrome with short stature +MONDO:0022851 Dennis-Fairhurst-Moore syndrome MONDO:0035863 Orphanet:2109 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0022851 Dennis-Fairhurst-Moore syndrome MONDO:8000032 Orphanet:2109 Orphanet:377789 obsolete malformation syndrome +MONDO:0022986 diffuse idiopathic pulmonary neuroendocrine cell hyperplasia MONDO:0017027 Orphanet:617916 Orphanet:264740 obsolete primary interstitial lung disease specific to adulthood +MONDO:0023122 familial prostate carcinoma MONDO:0015511 Orphanet:1331 Orphanet:156619 obsolete rare genetic urogenital disease +MONDO:0023122 familial prostate carcinoma MONDO:0017130 Orphanet:1331 Orphanet:271844 obsolete genetic urogenital tumor +MONDO:0023122 familial prostate carcinoma MONDO:0020032 Orphanet:1331 Orphanet:98058 obsolete rare urinary tract tumor +MONDO:0023171 foix chavany Marie syndrome MONDO:8000032 Orphanet:2048 Orphanet:377789 obsolete malformation syndrome +MONDO:0023201 Fryns Smeets Thiry syndrome MONDO:0035863 Orphanet:2058 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0023201 Fryns Smeets Thiry syndrome MONDO:8000032 Orphanet:2058 Orphanet:377789 obsolete malformation syndrome +MONDO:0023275 Graham-Boyle-Troxell syndrome MONDO:0019721 Orphanet:2111 Orphanet:93547 obsolete syndromic renal or urinary tract malformation +MONDO:0023275 Graham-Boyle-Troxell syndrome MONDO:0019749 Orphanet:2111 Orphanet:93619 obsolete rare renal tumor +MONDO:0024145 obsolete Pierre Robin syndrome associated with collagen disease MONDO:0015319 Orphanet:138041 Orphanet:138044 obsolete rare disease with Pierre Robin syndrome +MONDO:0024145 obsolete Pierre Robin syndrome associated with collagen disease MONDO:0018187 Orphanet:138041 Orphanet:363294 obsolete hereditary syndromic Pierre Robin syndrome +MONDO:0024147 obsolete Pierre Robin syndrome associated with a chromosomal anomaly MONDO:0015319 Orphanet:138047 Orphanet:138044 obsolete rare disease with Pierre Robin syndrome +MONDO:0024147 obsolete Pierre Robin syndrome associated with a chromosomal anomaly MONDO:0018187 Orphanet:138047 Orphanet:363294 obsolete hereditary syndromic Pierre Robin syndrome +MONDO:0024148 obsolete Pierre Robin syndrome associated with branchial archs anomalies MONDO:0015319 Orphanet:138050 Orphanet:138044 obsolete rare disease with Pierre Robin syndrome +MONDO:0024148 obsolete Pierre Robin syndrome associated with branchial archs anomalies MONDO:0018187 Orphanet:138050 Orphanet:363294 obsolete hereditary syndromic Pierre Robin syndrome +MONDO:0024149 obsolete Pierre Robin syndrome associated with bone disease MONDO:0015319 Orphanet:138055 Orphanet:138044 obsolete rare disease with Pierre Robin syndrome +MONDO:0024149 obsolete Pierre Robin syndrome associated with bone disease MONDO:0018187 Orphanet:138055 Orphanet:363294 obsolete hereditary syndromic Pierre Robin syndrome +MONDO:0024237 inherited neurodegenerative disorder MONDO:0019117 Orphanet:183500 Orphanet:71859 obsolete genetic nervous system disorder +MONDO:0024252 global developmental delay-neuro-ophthalmological abnormalities-seizures-intellectual disability syndrome MONDO:0034962 Orphanet:488613 Orphanet:519343 obsolete rare ophthalmic disorder with cortical involvement +MONDO:0024252 global developmental delay-neuro-ophthalmological abnormalities-seizures-intellectual disability syndrome MONDO:0035862 Orphanet:488613 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome +MONDO:0024252 global developmental delay-neuro-ophthalmological abnormalities-seizures-intellectual disability syndrome MONDO:8000032 Orphanet:488613 Orphanet:377789 obsolete malformation syndrome +MONDO:0024257 hereditary motor neuron disease MONDO:0026167 Orphanet:98505 Orphanet:183497 obsolete genetic neuromuscular disease +MONDO:0024336 vulvar adenocarcinoma MONDO:8000031 Orphanet:494454 Orphanet:557494 obsolete subtype of a disorder +MONDO:0024471 obsolete non-inflammatory vasculopathy MONDO:0019048 Orphanet:496924 Orphanet:68362 obsolete rare vascular disease +MONDO:0024525 Fanconi renotubular syndrome 1 MONDO:0019744 Orphanet:3337 Orphanet:93603 obsolete rare renal tubular disease +MONDO:0024537 Brown-Vialetto-van Laere syndrome 1 MONDO:8000031 Orphanet:572543 Orphanet:557494 obsolete subtype of a disorder +MONDO:0024548 peeling skin syndrome 1 MONDO:8000031 Orphanet:263553 Orphanet:557494 obsolete subtype of a disorder +MONDO:0024557 ataxia-telangiectasia-like disorder 1 MONDO:0015945 Orphanet:251347 Orphanet:183422 obsolete polymalformative genetic syndrome with increased risk of developing cancer +MONDO:0024557 ataxia-telangiectasia-like disorder 1 MONDO:0016756 Orphanet:251347 Orphanet:252190 obsolete inherited nervous system cancer-predisposing syndrome +MONDO:0024557 ataxia-telangiectasia-like disorder 1 MONDO:0020045 Orphanet:251347 Orphanet:98097 obsolete autosomal recessive cerebellar ataxia due to a DNA repair defect +MONDO:0024557 ataxia-telangiectasia-like disorder 1 MONDO:0035862 Orphanet:251347 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome +MONDO:0024559 aortic aneurysm, familial thoracic 1 MONDO:0017311 Orphanet:229 Orphanet:285014 obsolete rare disease with thoracic aortic aneurysm and aortic dissection +MONDO:0024568 infantile liver failure syndrome 1 MONDO:0015114 Orphanet:370088 Orphanet:101939 obsolete rare parenchymal liver disease +MONDO:0024568 infantile liver failure syndrome 1 MONDO:0015508 Orphanet:370088 Orphanet:156604 obsolete hereditary parenchymatous liver disease +MONDO:0024609 vulvar squamous cell carcinoma MONDO:8000031 Orphanet:494448 Orphanet:557494 obsolete subtype of a disorder +MONDO:0024686 tenosynovial giant cell tumor, diffuse type MONDO:0015940 Orphanet:66627 Orphanet:182231 obsolete rare rheumatologic disease +MONDO:0024987 obsolete genetic urogenital tract malformation MONDO:0015511 Orphanet:156622 Orphanet:156619 obsolete rare genetic urogenital disease +MONDO:0025193 oculopharyngodistal myopathy MONDO:0016109 Orphanet:98897 Orphanet:206653 obsolete autosomal recessive distal myopathy +MONDO:0025193 oculopharyngodistal myopathy MONDO:0020169 Orphanet:98897 Orphanet:98578 obsolete rare disorder with ptosis +MONDO:0025511 obsolete inherited neuroendocrine tumor MONDO:0019041 Orphanet:271847 Orphanet:68336 obsolete rare genetic inherited tumor +MONDO:0025514 livedoid vasculopathy MONDO:0024471 Orphanet:542643 Orphanet:496924 obsolete non-inflammatory vasculopathy +MONDO:0025514 livedoid vasculopathy MONDO:0032013 Orphanet:542643 Orphanet:377792 obsolete clinical syndrome +MONDO:0026141 obsolete genetic urticaria MONDO:0019043 Orphanet:182734 Orphanet:68346 obsolete rare genetic skin disease +MONDO:0026150 obsolete genetic erythrokeratoderma MONDO:0015946 Orphanet:183438 Orphanet:183426 obsolete rare genetic epidermal disorder +MONDO:0026151 obsolete genetic acrokeratoderma MONDO:0015946 Orphanet:183441 Orphanet:183426 obsolete rare genetic epidermal disorder +MONDO:0026152 obsolete genetic porokeratosis MONDO:0015946 Orphanet:183444 Orphanet:183426 obsolete rare genetic epidermal disorder +MONDO:0026157 obsolete genetic pigmentation anomaly of the skin MONDO:0019043 Orphanet:183463 Orphanet:68346 obsolete rare genetic skin disease +MONDO:0026160 obsolete genetic dermis disorder MONDO:0019043 Orphanet:183472 Orphanet:68346 obsolete rare genetic skin disease +MONDO:0026166 obsolete genetic immune deficiency with skin involvement MONDO:0019043 Orphanet:183494 Orphanet:68346 obsolete rare genetic skin disease +MONDO:0026167 obsolete genetic neuromuscular disease MONDO:0019117 Orphanet:183497 Orphanet:71859 obsolete genetic nervous system disorder +MONDO:0026170 obsolete genetic central nervous system malformation MONDO:0015960 Orphanet:183506 Orphanet:183530 obsolete rare genetic developmental defect during embryogenesis +MONDO:0026170 obsolete genetic central nervous system malformation MONDO:0019117 Orphanet:183506 Orphanet:71859 obsolete genetic nervous system disorder +MONDO:0026173 obsolete rare genetic medullar disease MONDO:0019117 Orphanet:183515 Orphanet:71859 obsolete genetic nervous system disorder +MONDO:0026180 obsolete genetic congenital limb malformation MONDO:0015960 Orphanet:183536 Orphanet:183530 obsolete rare genetic developmental defect during embryogenesis +MONDO:0026181 obsolete genetic renal or urinary tract malformation MONDO:0015960 Orphanet:183539 Orphanet:183530 obsolete rare genetic developmental defect during embryogenesis +MONDO:0026181 obsolete genetic renal or urinary tract malformation MONDO:0020030 Orphanet:183539 Orphanet:98056 obsolete rare genetic renal disease +MONDO:0026182 obsolete genetic cranial malformation MONDO:0015960 Orphanet:183542 Orphanet:183530 obsolete rare genetic developmental defect during embryogenesis +MONDO:0026183 obsolete genetic digestive tract malformation MONDO:0015960 Orphanet:183545 Orphanet:183530 obsolete rare genetic developmental defect during embryogenesis +MONDO:0026184 obsolete genetic visceral malformation of the liver, biliary tract, pancreas or spleen MONDO:0015960 Orphanet:183548 Orphanet:183530 obsolete rare genetic developmental defect during embryogenesis +MONDO:0026185 obsolete genetic respiratory or mediastinal malformation MONDO:0015960 Orphanet:183554 Orphanet:183530 obsolete rare genetic developmental defect during embryogenesis +MONDO:0026186 obsolete genetic developmental defect of the eye MONDO:0015960 Orphanet:183557 Orphanet:183530 obsolete rare genetic developmental defect during embryogenesis +MONDO:0026187 obsolete genetic malformation syndrome with short stature MONDO:0015960 Orphanet:183570 Orphanet:183530 obsolete rare genetic developmental defect during embryogenesis +MONDO:0026188 obsolete genetic overgrowth/obesity syndrome MONDO:0015960 Orphanet:183573 Orphanet:183530 obsolete rare genetic developmental defect during embryogenesis +MONDO:0026189 obsolete genetic branchial arch or oral-acral syndrome MONDO:0015960 Orphanet:183576 Orphanet:183530 obsolete rare genetic developmental defect during embryogenesis +MONDO:0026190 obsolete genetic malformation syndrome with odontal and/or periodontal component MONDO:0015960 Orphanet:183580 Orphanet:183530 obsolete rare genetic developmental defect during embryogenesis +MONDO:0026192 obsolete genetic glomerular disease MONDO:0020030 Orphanet:183586 Orphanet:98056 obsolete rare genetic renal disease +MONDO:0026193 obsolete genetic thrombotic microangiopathy MONDO:0020030 Orphanet:183589 Orphanet:98056 obsolete rare genetic renal disease +MONDO:0026203 obsolete genetic respiratory malformation MONDO:0015510 Orphanet:183622 Orphanet:156610 obsolete rare genetic respiratory disease +MONDO:0026209 obsolete genetic polyendocrinopathy MONDO:0015513 Orphanet:183643 Orphanet:156638 obsolete rare genetic endocrine disease +MONDO:0026419 obsolete isolated corpus callosum agenesis MONDO:0016054 Orphanet:200 Orphanet:199633 obsolete cerebral malformation +MONDO:0026419 obsolete isolated corpus callosum agenesis MONDO:8000030 Orphanet:200 Orphanet:377791 obsolete morphological anomaly +MONDO:0026777 VEXAS syndrome MONDO:0015489 Orphanet:596753 Orphanet:156143 obsolete predominantly medium-vessel vasculitis +MONDO:0026777 VEXAS syndrome MONDO:0017370 Orphanet:596753 Orphanet:290842 obsolete autoinflammatory syndrome with skin involvement +MONDO:0026777 VEXAS syndrome MONDO:0017957 Orphanet:596753 Orphanet:324936 obsolete unclassified autoinflammatory syndrome +MONDO:0026989 obsolete syndrome associated with hypertrophic cardiomyopathy MONDO:0020484 Orphanet:217595 Orphanet:99739 obsolete rare familial disorder with hypertrophic cardiomyopathy +MONDO:0027749 serpinopathy MONDO:0021198 Orphanet:250805 Orphanet:98053 obsolete rare genetic disease +MONDO:0027750 obsolete serpinopathy with toxic serpin polymerization MONDO:0027749 Orphanet:250808 Orphanet:250805 serpinopathy +MONDO:0027751 obsolete serpinopathy with loss of serpin function MONDO:0027749 Orphanet:250811 Orphanet:250805 serpinopathy +MONDO:0027929 obsolete genetic polycythemia MONDO:0015549 Orphanet:250165 Orphanet:158300 obsolete rare genetic hematologic disease +MONDO:0028569 obsolete genetic interstitial lung disease MONDO:0015510 Orphanet:264992 Orphanet:156610 obsolete rare genetic respiratory disease +MONDO:0028618 obsolete gastroenteric neuroendocrine neoplasm MONDO:0024503 Orphanet:481508 Orphanet:100092 digestive system neuroendocrine neoplasm +MONDO:0028737 obsolete biliary atresia disorder MONDO:0015116 Orphanet:498345 Orphanet:101941 obsolete rare biliary tract disease +MONDO:0028795 obsolete rare genetic systemic or rheumatologic disease MONDO:0021198 Orphanet:271870 Orphanet:98053 obsolete rare genetic disease +MONDO:0028868 obsolete genetic frontotemporal degeneration with dementia MONDO:0021037 Orphanet:276061 Orphanet:276058 obsolete genetic neurodegenerative disease with dementia +MONDO:0029014 obsolete rare systemic or rheumatological disease of childhood MONDO:8000033 Orphanet:280342 Orphanet:557492 obsolete group of disorders MONDO:0029051 obsolete autosomal recessive nail dysplasia MONDO:0000001 Orphanet:280654 Orphanet:377788 disease +MONDO:0029051 obsolete autosomal recessive nail dysplasia MONDO:0019284 Orphanet:280654 Orphanet:79369 inherited isolated nail anomaly +MONDO:0029102 obsolete autosomal ichthyosis syndrome with other associated signs MONDO:0017270 Orphanet:281244 Orphanet:281217 obsolete autosomal ichthyosis syndrome +MONDO:0029136 muscular dystrophy, limb-girdle, autosomal recessive 23 MONDO:0016149 Orphanet:565837 Orphanet:207094 obsolete qualitative or quantitative defects of merosin +MONDO:0029810 obsolete laminopathy with striated muscle involvement MONDO:0021106 Orphanet:300755 Orphanet:98301 laminopathy +MONDO:0029811 obsolete laminopathy with peripheral neuropathy MONDO:0021106 Orphanet:300758 Orphanet:98301 laminopathy +MONDO:0029812 obsolete laminopathy with lipodystrophy MONDO:0021106 Orphanet:300763 Orphanet:98301 laminopathy +MONDO:0029813 obsolete laminopathy with premature aging MONDO:0021106 Orphanet:300766 Orphanet:98301 laminopathy +MONDO:0030006 combined oxidative phosphorylation deficiency 40 MONDO:0016327 Orphanet:570491 Orphanet:217587 obsolete mitochondrial disease with hypertrophic cardiomyopathy +MONDO:0030006 combined oxidative phosphorylation deficiency 40 MONDO:0018157 Orphanet:570491 Orphanet:35696 obsolete mitochondrial disorder due to a defect in mitochondrial protein synthesis +MONDO:0030045 Liberfarb syndrome MONDO:0015329 Orphanet:589442 Orphanet:139021 obsolete malformation syndrome with short stature +MONDO:0030045 Liberfarb syndrome MONDO:0019589 Orphanet:589442 Orphanet:90642 obsolete syndromic genetic hearing loss +MONDO:0030045 Liberfarb syndrome MONDO:0026187 Orphanet:589442 Orphanet:183570 obsolete genetic malformation syndrome with short stature +MONDO:0030045 Liberfarb syndrome MONDO:0034953 Orphanet:589442 Orphanet:519325 obsolete syndromic inherited retinal disorder +MONDO:0030045 Liberfarb syndrome MONDO:0035863 Orphanet:589442 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0030045 Liberfarb syndrome MONDO:0800086 Orphanet:589442 Orphanet:93441 obsolete primary bone dysplasia with multiple joint dislocations +MONDO:0030045 Liberfarb syndrome MONDO:8000032 Orphanet:589442 Orphanet:377789 obsolete malformation syndrome +MONDO:0030073 Mitchell syndrome MONDO:0015359 Orphanet:631248 Orphanet:140453 obsolete autosomal dominant hereditary demyelinating motor and sensory neuropathy +MONDO:0030073 Mitchell syndrome MONDO:0019589 Orphanet:631248 Orphanet:90642 obsolete syndromic genetic hearing loss +MONDO:0030074 spondylometaphyseal dysplasia with corneal dystrophy MONDO:0015506 Orphanet:589435 Orphanet:156532 obsolete rare syndrome with cardiac malformations +MONDO:0030074 spondylometaphyseal dysplasia with corneal dystrophy MONDO:0020215 Orphanet:589435 Orphanet:98628 obsolete syndromic corneal dystrophy +MONDO:0030074 spondylometaphyseal dysplasia with corneal dystrophy MONDO:0035863 Orphanet:589435 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0030074 spondylometaphyseal dysplasia with corneal dystrophy MONDO:8000032 Orphanet:589435 Orphanet:377789 obsolete malformation syndrome +MONDO:0030258 pontocerebellar hypoplasia, type 14 MONDO:0035863 Orphanet:613274 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0030258 pontocerebellar hypoplasia, type 14 MONDO:8000032 Orphanet:613274 Orphanet:377789 obsolete malformation syndrome +MONDO:0030767 obsolete genetic tumor of hematopoietic and lymphoid tissues MONDO:0019041 Orphanet:322126 Orphanet:68336 obsolete rare genetic inherited tumor +MONDO:0030894 AMED syndrome, digenic MONDO:0015329 Orphanet:611216 Orphanet:139021 obsolete malformation syndrome with short stature +MONDO:0030894 AMED syndrome, digenic MONDO:0026187 Orphanet:611216 Orphanet:183570 obsolete genetic malformation syndrome with short stature +MONDO:0030894 AMED syndrome, digenic MONDO:0035862 Orphanet:611216 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome +MONDO:0030912 intellectual disability, autosomal dominant 47 MONDO:0035863 Orphanet:502434 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0030912 intellectual disability, autosomal dominant 47 MONDO:8000032 Orphanet:502434 Orphanet:377789 obsolete malformation syndrome +MONDO:0030913 intellectual disability, autosomal dominant 48 MONDO:0016055 Orphanet:500159 Orphanet:199639 obsolete syndrome with corpus callosum agenesis /dysgenesis as a major feature +MONDO:0030913 intellectual disability, autosomal dominant 48 MONDO:0035863 Orphanet:500159 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0030913 intellectual disability, autosomal dominant 48 MONDO:8000032 Orphanet:500159 Orphanet:377789 obsolete malformation syndrome +MONDO:0030914 Clark-Baraitser syndrome MONDO:0016565 Orphanet:600731 Orphanet:240371 obsolete syndromic genetic obesity +MONDO:0030914 Clark-Baraitser syndrome MONDO:0035863 Orphanet:600731 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0030914 Clark-Baraitser syndrome MONDO:8000032 Orphanet:600731 Orphanet:377789 obsolete malformation syndrome +MONDO:0030947 neurodegeneration, childhood-onset, with hypotonia, respiratory insufficiency, and brain imaging abnormalities MONDO:0015918 Orphanet:610573 Orphanet:182070 obsolete rare neurodegenerative disease +MONDO:0030947 neurodegeneration, childhood-onset, with hypotonia, respiratory insufficiency, and brain imaging abnormalities MONDO:0016135 Orphanet:610573 Orphanet:207025 obsolete rare hereditary neurologic disease with peripheral neuropathy +MONDO:0030947 neurodegeneration, childhood-onset, with hypotonia, respiratory insufficiency, and brain imaging abnormalities MONDO:0035862 Orphanet:610573 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome +MONDO:0031004 obsolete genetic disorder of sex development of gynecological interest MONDO:0015980 Orphanet:325665 Orphanet:183731 obsolete rare genetic gynecological and obstetrical diseases +MONDO:0031007 spondyloepiphyseal dysplasia, sensorineural hearing loss, impaired intellectual development, and leber congenital amaurosis MONDO:0015329 Orphanet:611207 Orphanet:139021 obsolete malformation syndrome with short stature +MONDO:0031007 spondyloepiphyseal dysplasia, sensorineural hearing loss, impaired intellectual development, and leber congenital amaurosis MONDO:0019589 Orphanet:611207 Orphanet:90642 obsolete syndromic genetic hearing loss +MONDO:0031007 spondyloepiphyseal dysplasia, sensorineural hearing loss, impaired intellectual development, and leber congenital amaurosis MONDO:0026187 Orphanet:611207 Orphanet:183570 obsolete genetic malformation syndrome with short stature +MONDO:0031007 spondyloepiphyseal dysplasia, sensorineural hearing loss, impaired intellectual development, and leber congenital amaurosis MONDO:0032013 Orphanet:611207 Orphanet:377792 obsolete clinical syndrome +MONDO:0031007 spondyloepiphyseal dysplasia, sensorineural hearing loss, impaired intellectual development, and leber congenital amaurosis MONDO:0034953 Orphanet:611207 Orphanet:519325 obsolete syndromic inherited retinal disorder +MONDO:0031007 spondyloepiphyseal dysplasia, sensorineural hearing loss, impaired intellectual development, and leber congenital amaurosis MONDO:0035863 Orphanet:611207 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0031008 nephrotic syndrome, type 24 MONDO:0032013 Orphanet:567548 Orphanet:377792 obsolete clinical syndrome +MONDO:0031016 obsolete genetic disorder of sex development MONDO:0015511 Orphanet:325690 Orphanet:156619 obsolete rare genetic urogenital disease +MONDO:0031016 obsolete genetic disorder of sex development MONDO:0015513 Orphanet:325690 Orphanet:156638 obsolete rare genetic endocrine disease +MONDO:0031016 obsolete genetic disorder of sex development MONDO:0015960 Orphanet:325690 Orphanet:183530 obsolete rare genetic developmental defect during embryogenesis +MONDO:0031037 famililal cerebral cavernous malformations MONDO:0015145 Orphanet:221061 Orphanet:102006 obsolete neurovascular malformation +MONDO:0031037 famililal cerebral cavernous malformations MONDO:0016232 Orphanet:221061 Orphanet:211252 obsolete rare venous malformation +MONDO:0031037 famililal cerebral cavernous malformations MONDO:0018730 Orphanet:221061 Orphanet:459548 obsolete rare genetic venous malformation +MONDO:0031037 famililal cerebral cavernous malformations MONDO:0031949 Orphanet:221061 Orphanet:371436 obsolete genetic neurovascular malformation +MONDO:0031037 famililal cerebral cavernous malformations MONDO:8000032 Orphanet:221061 Orphanet:377789 obsolete malformation syndrome +MONDO:0031213 restrictive dermopathy MONDO:0015331 Orphanet:1662 Orphanet:139027 obsolete malformation syndrome with skin/mucosae involvement +MONDO:0031213 restrictive dermopathy MONDO:0029813 Orphanet:1662 Orphanet:300766 obsolete laminopathy with premature aging +MONDO:0031213 restrictive dermopathy MONDO:0035863 Orphanet:1662 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0031219 mismatch repair cancer syndrome MONDO:0016756 Orphanet:252202 Orphanet:252190 obsolete inherited nervous system cancer-predisposing syndrome +MONDO:0031219 mismatch repair cancer syndrome MONDO:0018040 Orphanet:252202 Orphanet:331240 obsolete immunodeficiency with severe reduction in serum IgG and IgA with normal/elevated IgM and normal number of B-cells +MONDO:0031257 high altitude pulmonary edema MONDO:0015118 Orphanet:330012 Orphanet:101944 obsolete rare pulmonary disease +MONDO:0031257 high altitude pulmonary edema MONDO:0032014 Orphanet:330012 Orphanet:377793 obsolete particular clinical situation in a disease or syndrome +MONDO:0031322 triopia MONDO:8000030 Orphanet:3374 Orphanet:377791 obsolete morphological anomaly +MONDO:0031415 Carey-Fineman-Ziter syndrome MONDO:0015335 Orphanet:1358 Orphanet:139039 obsolete Mendelian syndromes with cleft lip/palate +MONDO:0031415 Carey-Fineman-Ziter syndrome MONDO:0035863 Orphanet:1358 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0031415 Carey-Fineman-Ziter syndrome MONDO:8000032 Orphanet:1358 Orphanet:377789 obsolete malformation syndrome +MONDO:0031421 Olmsted syndrome MONDO:0017670 Orphanet:659 Orphanet:307773 obsolete autosomal dominant diffuse mutilating palmoplantar keratoderma +MONDO:0031446 hypercholanemia, familial 1 MONDO:0015581 Orphanet:238475 Orphanet:163631 obsolete bile acid synthesis defect with cholestasis and malabsorption +MONDO:0031481 microcephaly, epilepsy, and diabetes syndrome 1 MONDO:0015655 Orphanet:306558 Orphanet:166478 obsolete cerebral malformation with epilepsy +MONDO:0031481 microcephaly, epilepsy, and diabetes syndrome 1 MONDO:0015888 Orphanet:306558 Orphanet:181381 obsolete other rare diabetes mellitus +MONDO:0031481 microcephaly, epilepsy, and diabetes syndrome 1 MONDO:0017119 Orphanet:306558 Orphanet:269528 obsolete syndrome with microcephaly as major feature +MONDO:0031689 obsolete genetic progeroid syndrome MONDO:0015960 Orphanet:363245 Orphanet:183530 obsolete rare genetic developmental defect during embryogenesis +MONDO:0031697 obsolete genetic intractable diarrhea of infancy MONDO:0015616 Orphanet:363300 Orphanet:165655 obsolete rare genetic intestinal disease +MONDO:0031698 obsolete genetic intestinal disease due to fat malabsorption MONDO:0015616 Orphanet:363306 Orphanet:165655 obsolete rare genetic intestinal disease +MONDO:0031799 obsolete rare bone disease related to a common gene or pathway defect MONDO:0015958 Orphanet:364803 Orphanet:183524 obsolete rare genetic bone disease +MONDO:0031949 obsolete genetic neurovascular malformation MONDO:0015953 Orphanet:371436 Orphanet:183503 obsolete genetic central nervous system and retinal vascular disease +MONDO:0031952 obsolete genetic syndromic esophageal malformation MONDO:0019513 Orphanet:371445 Orphanet:88993 obsolete esophageal malformation +MONDO:0032011 obsolete biological anomaly MONDO:8000034 Orphanet:377790 Orphanet:557493 obsolete disorder +MONDO:0032013 obsolete clinical syndrome MONDO:8000034 Orphanet:377792 Orphanet:557493 obsolete disorder +MONDO:0032014 obsolete particular clinical situation in a disease or syndrome MONDO:8000034 Orphanet:377793 Orphanet:557493 obsolete disorder +MONDO:0032221 obsolete rare disorder with female infertility due to a congenital hypogonadotropic hypogonadism MONDO:0018398 Orphanet:399846 Orphanet:399839 obsolete female infertility due to a congenital hypogonadotropic hypogonadism +MONDO:0032600 Snijders Blok-Campeau syndrome MONDO:0035863 Orphanet:599082 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0032600 Snijders Blok-Campeau syndrome MONDO:8000032 Orphanet:599082 Orphanet:377789 obsolete malformation syndrome +MONDO:0032601 inflammatory bowel disease, immunodeficiency, and encephalopathy MONDO:0033967 Orphanet:565788 Orphanet:529974 obsolete immune dysregulation with inflammatory bowel disease +MONDO:0032601 inflammatory bowel disease, immunodeficiency, and encephalopathy MONDO:0035862 Orphanet:565788 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome +MONDO:0032642 arthrogryposis, cleft palate, craniosynostosis, and impaired intellectual development MONDO:0035863 Orphanet:565858 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0032642 arthrogryposis, cleft palate, craniosynostosis, and impaired intellectual development MONDO:8000032 Orphanet:565858 Orphanet:377789 obsolete malformation syndrome +MONDO:0032643 pontocerebellar hypoplasia, type 12 MONDO:8000032 Orphanet:611256 Orphanet:377789 obsolete malformation syndrome +MONDO:0032653 cardiac-urogenital syndrome MONDO:0043008 Orphanet:647811 Orphanet:330206 obsolete genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability +MONDO:0032672 intellectual developmental disorder with cardiac defects and dysmorphic facies MONDO:0015506 Orphanet:562569 Orphanet:156532 obsolete rare syndrome with cardiac malformations +MONDO:0032672 intellectual developmental disorder with cardiac defects and dysmorphic facies MONDO:0035863 Orphanet:562569 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0032672 intellectual developmental disorder with cardiac defects and dysmorphic facies MONDO:8000032 Orphanet:562569 Orphanet:377789 obsolete malformation syndrome +MONDO:0032677 lissencephaly 9 with complex brainstem malformation MONDO:8000032 Orphanet:572013 Orphanet:377789 obsolete malformation syndrome +MONDO:0032678 developmental and epileptic encephalopathy, 71 MONDO:0016399 Orphanet:557064 Orphanet:225689 obsolete amino acid or protein metabolism disease with epilepsy +MONDO:0032678 developmental and epileptic encephalopathy, 71 MONDO:0019058 Orphanet:557064 Orphanet:68385 obsolete neurometabolic disease +MONDO:0032705 neurodevelopmental disorder with microcephaly, epilepsy, and hypomyelination MONDO:0016406 Orphanet:597874 Orphanet:225713 obsolete other metabolic disease with epilepsy +MONDO:0032705 neurodevelopmental disorder with microcephaly, epilepsy, and hypomyelination MONDO:0019058 Orphanet:597874 Orphanet:68385 obsolete neurometabolic disease +MONDO:0032705 neurodevelopmental disorder with microcephaly, epilepsy, and hypomyelination MONDO:0035862 Orphanet:597874 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome +MONDO:0032714 facial dysmorphism, hypertrichosis, epilepsy, intellectual/developmental delay, and gingival overgrowth syndrome MONDO:0015336 Orphanet:598603 Orphanet:139042 obsolete malformation syndrome with odontal and/or periodontal component +MONDO:0032714 facial dysmorphism, hypertrichosis, epilepsy, intellectual/developmental delay, and gingival overgrowth syndrome MONDO:0026190 Orphanet:598603 Orphanet:183580 obsolete genetic malformation syndrome with odontal and/or periodontal component +MONDO:0032714 facial dysmorphism, hypertrichosis, epilepsy, intellectual/developmental delay, and gingival overgrowth syndrome MONDO:0035863 Orphanet:598603 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0032714 facial dysmorphism, hypertrichosis, epilepsy, intellectual/developmental delay, and gingival overgrowth syndrome MONDO:8000032 Orphanet:598603 Orphanet:377789 obsolete malformation syndrome +MONDO:0032716 leukoencephalopathy, acute reversible, with increased urinary alpha-ketoglutarate MONDO:0019058 Orphanet:615964 Orphanet:68385 obsolete neurometabolic disease +MONDO:0032724 spondyloepimetaphyseal dysplasia with joint laxity, type 3 MONDO:0800086 Orphanet:642085 Orphanet:93441 obsolete primary bone dysplasia with multiple joint dislocations +MONDO:0032726 combined oxidative phosphorylation deficiency 39 MONDO:0018157 Orphanet:565624 Orphanet:35696 obsolete mitochondrial disorder due to a defect in mitochondrial protein synthesis +MONDO:0032726 combined oxidative phosphorylation deficiency 39 MONDO:0019058 Orphanet:565624 Orphanet:68385 obsolete neurometabolic disease +MONDO:0032726 combined oxidative phosphorylation deficiency 39 MONDO:0035862 Orphanet:565624 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome +MONDO:0032737 spastic paraplegia 80, autosomal dominant MONDO:0015088 Orphanet:631068 Orphanet:100980 obsolete autosomal dominant pure spastic paraplegia +MONDO:0032814 microangiopathy and leukoencephalopathy, pontine, autosomal dominant MONDO:0018789 Orphanet:477749 Orphanet:477762 obsolete COL4A1 or COL4A2-related cerebral small vessel disease with ischemic tendancy +MONDO:0032831 pontocerebellar hypoplasia, type 13 MONDO:0035863 Orphanet:613267 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0032831 pontocerebellar hypoplasia, type 13 MONDO:8000032 Orphanet:613267 Orphanet:377789 obsolete malformation syndrome +MONDO:0032906 spastic paraplegia 82, autosomal recessive MONDO:0015089 Orphanet:631073 Orphanet:100981 obsolete autosomal recessive complex spastic paraplegia +MONDO:0032931 pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome, neonatal lethal MONDO:0017118 Orphanet:615954 Orphanet:269523 obsolete syndrome with a cerebellar malformation as major feature +MONDO:0032931 pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome, neonatal lethal MONDO:0018731 Orphanet:615954 Orphanet:459787 obsolete lethal multiple congenital anomalies/dysmorphic syndrome +MONDO:0032931 pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome, neonatal lethal MONDO:0032013 Orphanet:615954 Orphanet:377792 obsolete clinical syndrome +MONDO:0033043 spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy MONDO:0035862 Orphanet:527497 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome +MONDO:0033056 obsolete genetic facial cleft MONDO:0015961 Orphanet:414726 Orphanet:183583 obsolete hereditary head and neck malformation +MONDO:0033135 Charcot-Marie-Tooth disease, demyelinating, type 1G MONDO:0015359 Orphanet:476394 Orphanet:140453 obsolete autosomal dominant hereditary demyelinating motor and sensory neuropathy +MONDO:0033203 nephrotic syndrome 14 MONDO:0035683 Orphanet:506334 Orphanet:595337 obsolete adrenal hypoplasia congenita +MONDO:0033282 multiple mitochondrial dysfunctions syndrome 5 MONDO:0015918 Orphanet:569274 Orphanet:182070 obsolete rare neurodegenerative disease +MONDO:0033329 obsolete genetic precocious puberty MONDO:0015514 Orphanet:435554 Orphanet:156643 hereditary endocrine growth disease +MONDO:0033331 obsolete genetic precocious puberty in female MONDO:0016072 Orphanet:435564 Orphanet:202940 obsolete anomaly of puberty or/and menstrual cycle of genetic origin +MONDO:0033334 obsolete genetic nose and cavum anomaly MONDO:0018562 Orphanet:435606 Orphanet:435603 obsolete hereditary otorhinolaryngological malformation +MONDO:0033335 obsolete genetic larynx anomaly MONDO:0018562 Orphanet:435609 Orphanet:435603 obsolete hereditary otorhinolaryngological malformation +MONDO:0033336 obsolete genetic tracheal anomaly MONDO:0018562 Orphanet:435612 Orphanet:435603 obsolete hereditary otorhinolaryngological malformation +MONDO:0033481 spinocerebellar ataxia 46 MONDO:0016136 Orphanet:589522 Orphanet:207028 obsolete cerebellar ataxia with peripheral neuropathy +MONDO:0033613 neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities MONDO:0035862 Orphanet:641353 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome +MONDO:0033614 spastic paraplegia 83, autosomal recessive MONDO:0015090 Orphanet:631076 Orphanet:100982 obsolete autosomal recessive pure spastic paraplegia +MONDO:0033642 neurodevelopmental disorder with alopecia and brain abnormalities MONDO:0019058 Orphanet:544488 Orphanet:68385 obsolete neurometabolic disease +MONDO:0033642 neurodevelopmental disorder with alopecia and brain abnormalities MONDO:0035863 Orphanet:544488 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0033672 Duane anomaly-myopathy-scoliosis syndrome MONDO:0019711 Orphanet:50817 Orphanet:93454 obsolete dysostosis with predominant vertebral and costal involvement +MONDO:0033672 Duane anomaly-myopathy-scoliosis syndrome MONDO:0020253 Orphanet:50817 Orphanet:98683 obsolete syndrome with a symptomatic strabismus +MONDO:0033682 skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome MONDO:0035863 Orphanet:508533 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0033683 congenital progressive bone marrow failure-B-cell immunodeficiency-skeletal dysplasia syndrome MONDO:0017432 Orphanet:508542 Orphanet:294955 obsolete syndrome with limb reduction defects +MONDO:0033683 congenital progressive bone marrow failure-B-cell immunodeficiency-skeletal dysplasia syndrome MONDO:0035863 Orphanet:508542 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0033717 congenital cerebellar ataxia due to RNU12 mutation MONDO:0035862 Orphanet:512260 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome +MONDO:0033809 isolated blepharochalasis MONDO:0020158 Orphanet:519390 Orphanet:98567 obsolete eyelids malposition disorder +MONDO:0033850 autosomal recessive axonal charcot-marie-tooth disease due to copper metabolism defect MONDO:0019601 Orphanet:521411 Orphanet:91024 obsolete autosomal recessive axonal hereditary motor and sensory neuropathy +MONDO:0033853 congenital cataract-severe neonatal hepatopathy-global developmental delay syndrome MONDO:0015116 Orphanet:521432 Orphanet:101941 obsolete rare biliary tract disease +MONDO:0033853 congenital cataract-severe neonatal hepatopathy-global developmental delay syndrome MONDO:0015509 Orphanet:521432 Orphanet:156607 obsolete hereditary biliary tract disease +MONDO:0033853 congenital cataract-severe neonatal hepatopathy-global developmental delay syndrome MONDO:0020225 Orphanet:521432 Orphanet:98641 obsolete syndromic cataract +MONDO:0033856 LAMA5-related multisystemic syndrome MONDO:0028795 Orphanet:521450 Orphanet:271870 obsolete rare genetic systemic or rheumatologic disease +MONDO:0033862 primary autoimmune enteropathy MONDO:0019126 Orphanet:522037 Orphanet:73014 obsolete intractable diarrhea of infancy +MONDO:0033864 infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome MONDO:0020253 Orphanet:522077 Orphanet:98683 obsolete syndrome with a symptomatic strabismus +MONDO:0033864 infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome MONDO:0034641 Orphanet:522077 Orphanet:496916 obsolete rare genetic hyperkinetic movement disorder +MONDO:0033864 infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome MONDO:0035862 Orphanet:522077 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome +MONDO:0033864 infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome MONDO:0044636 Orphanet:522077 Orphanet:494457 obsolete rare hyperkinetic movement disorder +MONDO:0033925 pediatric-onset Graves disease MONDO:0015894 Orphanet:525731 Orphanet:181399 obsolete rare hyperthyroidism +MONDO:0033926 prepubertal anorexia nervosa MONDO:0015889 Orphanet:525738 Orphanet:181384 obsolete rare hypothalamic or pituitary disease +MONDO:0033926 prepubertal anorexia nervosa MONDO:0020016 Orphanet:525738 Orphanet:98033 obsolete rare neurologic disease with psychiatric involvement +MONDO:0033927 obsolete genetic complex vascular malformation with associated anomalies MONDO:0016229 Orphanet:459537 Orphanet:211240 obsolete hereditary vascular anomaly +MONDO:0033938 acute radiation syndrome MONDO:0032014 Orphanet:454831 Orphanet:377793 obsolete particular clinical situation in a disease or syndrome +MONDO:0033946 hereditary angioedema with C1Inh deficiency MONDO:0027751 Orphanet:528623 Orphanet:250811 obsolete serpinopathy with loss of serpin function MONDO:0033947 obsolete hereditary angioedema with normal C1Inh MONDO:0000001 Orphanet:528647 Orphanet:377788 disease +MONDO:0033947 obsolete hereditary angioedema with normal C1Inh MONDO:0019623 Orphanet:528647 Orphanet:91378 hereditary angioedema +MONDO:0033954 monoclonal mast cell activation syndrome MONDO:0019044 Orphanet:529468 Orphanet:68347 obsolete tumor of hematopoietic and lymphoid tissues +MONDO:0033967 obsolete immune dysregulation with inflammatory bowel disease MONDO:0015187 Orphanet:529974 Orphanet:104012 obsolete rare inflammatory bowel disease +MONDO:0033967 obsolete immune dysregulation with inflammatory bowel disease MONDO:0015616 Orphanet:529974 Orphanet:165655 obsolete rare genetic intestinal disease +MONDO:0033967 obsolete immune dysregulation with inflammatory bowel disease MONDO:0015710 Orphanet:529974 Orphanet:169361 obsolete immune dysregulation disease with immunodeficiency +MONDO:0033968 immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections-lymphopenia syndrome MONDO:0015940 Orphanet:529977 Orphanet:182231 obsolete rare rheumatologic disease +MONDO:0033968 immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections-lymphopenia syndrome MONDO:0028795 Orphanet:529977 Orphanet:271870 obsolete rare genetic systemic or rheumatologic disease +MONDO:0033968 immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections-lymphopenia syndrome MONDO:0033967 Orphanet:529977 Orphanet:529974 obsolete immune dysregulation with inflammatory bowel disease +MONDO:0033969 inflammatory bowel disease-recurrent sinopulmonary infections syndrome MONDO:0033967 Orphanet:529980 Orphanet:529974 obsolete immune dysregulation with inflammatory bowel disease MONDO:0034024 obsolete kyphoscoliotic Ehlers-Danlos syndrome MONDO:0000001 Orphanet:536545 Orphanet:377788 disease +MONDO:0034024 obsolete kyphoscoliotic Ehlers-Danlos syndrome MONDO:0020066 Orphanet:536545 Orphanet:98249 Ehlers-Danlos syndrome MONDO:0034028 obsolete symptomatic form of hemochromatosis type 1 MONDO:0000001 Orphanet:465508 Orphanet:377788 disease +MONDO:0034028 obsolete symptomatic form of hemochromatosis type 1 MONDO:0016363 Orphanet:465508 Orphanet:220489 obsolete rare hereditary hemochromatosis +MONDO:0034039 obsolete genetic hemoglobinopathy MONDO:0015972 Orphanet:466066 Orphanet:183651 obsolete rare constitutional anemia +MONDO:0034041 congenital axonal neuropathy with encephalopathy MONDO:0019601 Orphanet:538101 Orphanet:91024 obsolete autosomal recessive axonal hereditary motor and sensory neuropathy +MONDO:0034092 optic atrophy-ataxia-peripheral neuropathy-global developmental delay syndrome MONDO:0016133 Orphanet:543470 Orphanet:207018 obsolete rare hereditary metabolic disease with peripheral neuropathy +MONDO:0034092 optic atrophy-ataxia-peripheral neuropathy-global developmental delay syndrome MONDO:0017718 Orphanet:543470 Orphanet:309136 obsolete mitochondrial disorder due to a defect in assembly or maturation of the respiratory chain complexes +MONDO:0034092 optic atrophy-ataxia-peripheral neuropathy-global developmental delay syndrome MONDO:0018609 Orphanet:543470 Orphanet:441434 obsolete syndromic hereditary optic neuropathy +MONDO:0034092 optic atrophy-ataxia-peripheral neuropathy-global developmental delay syndrome MONDO:0019058 Orphanet:543470 Orphanet:68385 obsolete neurometabolic disease +MONDO:0034092 optic atrophy-ataxia-peripheral neuropathy-global developmental delay syndrome MONDO:0019589 Orphanet:543470 Orphanet:90642 obsolete syndromic genetic hearing loss +MONDO:0034092 optic atrophy-ataxia-peripheral neuropathy-global developmental delay syndrome MONDO:0035862 Orphanet:543470 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome +MONDO:0034099 SYNGAP1-related developmental and epileptic encephalopathy MONDO:0035862 Orphanet:544254 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome +MONDO:0034103 infection-related hemolytic uremic syndrome MONDO:0015911 Orphanet:544482 Orphanet:182047 obsolete rare acquired hemolytic anemia +MONDO:0034106 developmental and epileptic encephalopathy, 73 MONDO:0019589 Orphanet:544503 Orphanet:90642 obsolete syndromic genetic hearing loss +MONDO:0034106 developmental and epileptic encephalopathy, 73 MONDO:0035863 Orphanet:544503 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0034110 atypical Fanconi syndrome-neonatal hyperinsulinism syndrome MONDO:0015887 Orphanet:544628 Orphanet:181376 obsolete rare diabetes mellitus type 2 +MONDO:0034110 atypical Fanconi syndrome-neonatal hyperinsulinism syndrome MONDO:0019744 Orphanet:544628 Orphanet:93603 obsolete rare renal tubular disease +MONDO:0034121 NAD(P)HX dehydratase deficiency MONDO:0015918 Orphanet:555402 Orphanet:182070 obsolete rare neurodegenerative disease +MONDO:0034121 NAD(P)HX dehydratase deficiency MONDO:0019058 Orphanet:555402 Orphanet:68385 obsolete neurometabolic disease +MONDO:0034121 NAD(P)HX dehydratase deficiency MONDO:0019602 Orphanet:555402 Orphanet:91088 obsolete other inborn metabolic disease +MONDO:0034142 pancreatic agenesis-holoprosencephaly syndrome MONDO:0015214 Orphanet:556955 Orphanet:108973 obsolete syndromic visceral malformation +MONDO:0034142 pancreatic agenesis-holoprosencephaly syndrome MONDO:0017120 Orphanet:556955 Orphanet:269531 obsolete other syndrome with a central nervous system malformation as major feature +MONDO:0034142 pancreatic agenesis-holoprosencephaly syndrome MONDO:0035863 Orphanet:556955 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0034143 early-onset calcifying leukoencephalopathy-skeletal dysplasia MONDO:0015918 Orphanet:556985 Orphanet:182070 obsolete rare neurodegenerative disease +MONDO:0034145 oculocerebrodental syndrome MONDO:0019183 Orphanet:557003 Orphanet:77830 obsolete inherited odontologic disease +MONDO:0034145 oculocerebrodental syndrome MONDO:0019589 Orphanet:557003 Orphanet:90642 obsolete syndromic genetic hearing loss +MONDO:0034145 oculocerebrodental syndrome MONDO:0019705 Orphanet:557003 Orphanet:93447 obsolete primary bone dysplasia with defective bone mineralization +MONDO:0034145 oculocerebrodental syndrome MONDO:0020014 Orphanet:557003 Orphanet:98027 obsolete rare disease with odontological manifestation +MONDO:0034145 oculocerebrodental syndrome MONDO:0020225 Orphanet:557003 Orphanet:98641 obsolete syndromic cataract +MONDO:0034145 oculocerebrodental syndrome MONDO:0035863 Orphanet:557003 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0034146 spastic ataxia-dysarthria due to glutaminase deficiency MONDO:0019058 Orphanet:557056 Orphanet:68385 obsolete neurometabolic disease +MONDO:0034150 idiopathic gastroparesis MONDO:0015111 Orphanet:558411 Orphanet:101936 obsolete gastroesophageal disease +MONDO:0034189 primary biliary cholangitis/primary sclerosing cholangitis and autoimmune hepatitis overlap syndrome MONDO:0015114 Orphanet:562639 Orphanet:101939 obsolete rare parenchymal liver disease +MONDO:0034189 primary biliary cholangitis/primary sclerosing cholangitis and autoimmune hepatitis overlap syndrome MONDO:0015116 Orphanet:562639 Orphanet:101941 obsolete rare biliary tract disease +MONDO:0034204 syndromic congenital sodium diarrhea MONDO:0015178 Orphanet:563708 Orphanet:104003 obsolete congenital intestinal transport defect +MONDO:0034204 syndromic congenital sodium diarrhea MONDO:0019126 Orphanet:563708 Orphanet:73014 obsolete intractable diarrhea of infancy +MONDO:0034204 syndromic congenital sodium diarrhea MONDO:0031697 Orphanet:563708 Orphanet:363300 obsolete genetic intractable diarrhea of infancy +MONDO:0034212 methotrexate toxicity MONDO:0017633 Orphanet:565782 Orphanet:306640 obsolete rare intoxication due to medical products +MONDO:0034216 resistance to thyroid hormone due to a mutation in thyroid hormone receptor alpha MONDO:0035689 Orphanet:566231 Orphanet:596426 obsolete syndrome of reduced sensitivity to thyroid hormone MONDO:0034217 obsolete resistance to thyroid hormone due to a mutation in thyroid hormone receptor beta MONDO:0000001 Orphanet:566243 Orphanet:377788 disease +MONDO:0034217 obsolete resistance to thyroid hormone due to a mutation in thyroid hormone receptor beta MONDO:0035689 Orphanet:566243 Orphanet:596426 obsolete syndrome of reduced sensitivity to thyroid hormone +MONDO:0034443 obsolete genetic non-acquired premature ovarian failure MONDO:0015513 Orphanet:485382 Orphanet:156638 obsolete rare genetic endocrine disease +MONDO:0034443 obsolete genetic non-acquired premature ovarian failure MONDO:0016072 Orphanet:485382 Orphanet:202940 obsolete anomaly of puberty or/and menstrual cycle of genetic origin +MONDO:0034641 obsolete rare genetic hyperkinetic movement disorder MONDO:0015957 Orphanet:496916 Orphanet:183521 obsolete rare genetic movement disorder +MONDO:0034661 obsolete syndromic biliary atresia MONDO:0028737 Orphanet:498350 Orphanet:498345 obsolete biliary atresia disorder +MONDO:0034667 obsolete longitudinal limb defect MONDO:0019713 Orphanet:498457 Orphanet:93457 non-syndromic limb reduction defect +MONDO:0034668 obsolete terminal transverse limb defect MONDO:0019713 Orphanet:498461 Orphanet:93457 non-syndromic limb reduction defect +MONDO:0034669 obsolete non-syndromic preaxial polydactyly MONDO:0011348 Orphanet:498464 Orphanet:2913 non-syndromic polydactyly +MONDO:0034670 obsolete non-syndromic postaxial polydactyly MONDO:0011348 Orphanet:498467 Orphanet:2913 non-syndromic polydactyly +MONDO:0034671 obsolete non-syndromic complex polydactyly MONDO:0011348 Orphanet:498470 Orphanet:2913 non-syndromic polydactyly +MONDO:0034676 overgrowth syndrome with 2q37 translocation MONDO:0016998 Orphanet:498488 Orphanet:263708 obsolete complex chromosomal rearrangement +MONDO:0034676 overgrowth syndrome with 2q37 translocation MONDO:0800091 Orphanet:498488 Orphanet:498448 obsolete overgrowth or tall stature syndrome with skeletal involvement +MONDO:0034676 overgrowth syndrome with 2q37 translocation MONDO:8000032 Orphanet:498488 Orphanet:377789 obsolete malformation syndrome +MONDO:0034678 obsolete mirror-image polydactyly MONDO:0034671 Orphanet:498494 Orphanet:498470 obsolete non-syndromic complex polydactyly +MONDO:0034678 obsolete mirror-image polydactyly MONDO:8000030 Orphanet:498494 Orphanet:377791 obsolete morphological anomaly +MONDO:0034733 obsolete cochlear nerve deficiency MONDO:0015604 Orphanet:502318 Orphanet:164004 middle ear anomaly +MONDO:0034733 obsolete cochlear nerve deficiency MONDO:8000030 Orphanet:502318 Orphanet:377791 obsolete morphological anomaly +MONDO:0034819 obsolete familial intestinal malrotation MONDO:0015211 Orphanet:508410 Orphanet:108967 obsolete non-syndromic intestinal malformation +MONDO:0034819 obsolete familial intestinal malrotation MONDO:8000030 Orphanet:508410 Orphanet:377791 obsolete morphological anomaly +MONDO:0034820 cleft lip and palate-craniofacial dysmorphism-congenital heart defect-hearing loss syndrome MONDO:0015335 Orphanet:508476 Orphanet:139039 obsolete Mendelian syndromes with cleft lip/palate +MONDO:0034820 cleft lip and palate-craniofacial dysmorphism-congenital heart defect-hearing loss syndrome MONDO:0015506 Orphanet:508476 Orphanet:156532 obsolete rare syndrome with cardiac malformations +MONDO:0034820 cleft lip and palate-craniofacial dysmorphism-congenital heart defect-hearing loss syndrome MONDO:0019589 Orphanet:508476 Orphanet:90642 obsolete syndromic genetic hearing loss +MONDO:0034820 cleft lip and palate-craniofacial dysmorphism-congenital heart defect-hearing loss syndrome MONDO:0043008 Orphanet:508476 Orphanet:330206 obsolete genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability +MONDO:0034820 cleft lip and palate-craniofacial dysmorphism-congenital heart defect-hearing loss syndrome MONDO:8000032 Orphanet:508476 Orphanet:377789 obsolete malformation syndrome +MONDO:0034823 oral-facial-digital syndrome with short stature and brachymesophalangy MONDO:8000032 Orphanet:508501 Orphanet:377789 obsolete malformation syndrome +MONDO:0034846 primary desmosis coli MONDO:0015245 Orphanet:565641 Orphanet:117569 obsolete rare intestinal disease +MONDO:0034872 obsolete large granular lymphocyte leukemia MONDO:0015760 Orphanet:512034 Orphanet:171918 T-cell non-Hodgkin lymphoma +MONDO:0034895 congenital brachyesophagus-intrathoracic stomach-vertebral anomalies syndrome MONDO:0015208 Orphanet:514352 Orphanet:108961 obsolete syndromic esophageal malformation +MONDO:0034895 congenital brachyesophagus-intrathoracic stomach-vertebral anomalies syndrome MONDO:0031952 Orphanet:514352 Orphanet:371445 obsolete genetic syndromic esophageal malformation +MONDO:0034895 congenital brachyesophagus-intrathoracic stomach-vertebral anomalies syndrome MONDO:8000032 Orphanet:514352 Orphanet:377789 obsolete malformation syndrome +MONDO:0034901 obsolete ATP13A2-related parkinsonism MONDO:0017635 Orphanet:514980 Orphanet:306666 obsolete parkinsonian syndrome due to neurodegenerative disease +MONDO:0034901 obsolete ATP13A2-related parkinsonism MONDO:0017661 Orphanet:514980 Orphanet:307055 obsolete rare parkinsonian syndrome due to genetic neurodegenerative disease +MONDO:0034923 obsolete inflammatory/autoimmune disorder involving the lacrimal system MONDO:0020192 Orphanet:519264 Orphanet:98602 obsolete rare lacrimal system disease +MONDO:0034926 obsolete rare disorder with entropion MONDO:0020158 Orphanet:519270 Orphanet:98567 obsolete eyelids malposition disorder +MONDO:0034931 obsolete rare conjunctivitis MONDO:0020198 Orphanet:519280 Orphanet:98610 obsolete rare conjunctival disease +MONDO:0034937 obsolete syndromic ectopia lentis MONDO:0020236 Orphanet:519292 Orphanet:98653 obsolete lens position anomaly +MONDO:0034943 obsolete isolated vitreoretinopathy MONDO:0020246 Orphanet:519304 Orphanet:98668 inherited vitreoretinopathy +MONDO:0034953 obsolete syndromic inherited retinal disorder MONDO:0019118 Orphanet:519325 Orphanet:71862 inherited retinal dystrophy +MONDO:0034954 obsolete syndromic vitreoretinopathy MONDO:0020246 Orphanet:519327 Orphanet:98668 inherited vitreoretinopathy +MONDO:0034961 obsolete rare brainstem or cerebellar disorder with ophthalmic involvement as a major feature MONDO:0015368 Orphanet:519341 Orphanet:140653 obsolete neuro-ophthalmological disease +MONDO:0034962 obsolete rare ophthalmic disorder with cortical involvement MONDO:0015368 Orphanet:519343 Orphanet:140653 obsolete neuro-ophthalmological disease +MONDO:0034965 obsolete rare ophthalmic disorder with cranial nerve involvement MONDO:0015368 Orphanet:519349 Orphanet:140653 obsolete neuro-ophthalmological disease +MONDO:0034968 obsolete rare ocular motility/alignment disorder MONDO:0015368 Orphanet:519355 Orphanet:140653 obsolete neuro-ophthalmological disease +MONDO:0034971 isolated congenital entropion MONDO:0034926 Orphanet:519386 Orphanet:519270 obsolete rare disorder with entropion +MONDO:0034971 isolated congenital entropion MONDO:8000030 Orphanet:519386 Orphanet:377791 obsolete morphological anomaly +MONDO:0034977 obsolete isolated microspherophakia MONDO:0020235 Orphanet:519396 Orphanet:98652 obsolete lens size anomaly +MONDO:0034977 obsolete isolated microspherophakia MONDO:8000030 Orphanet:519396 Orphanet:377791 obsolete morphological anomaly +MONDO:0034978 isolated foveal hypoplasia MONDO:8000030 Orphanet:519398 Orphanet:377791 obsolete morphological anomaly +MONDO:0034979 obsolete peripapillary staphyloma MONDO:0850010 Orphanet:519400 Orphanet:519333 congenital optic disk excavation +MONDO:0034979 obsolete peripapillary staphyloma MONDO:8000030 Orphanet:519400 Orphanet:377791 obsolete morphological anomaly +MONDO:0034980 obsolete isolated megalopapilla MONDO:0850010 Orphanet:519402 Orphanet:519333 congenital optic disk excavation +MONDO:0034980 obsolete isolated megalopapilla MONDO:8000030 Orphanet:519402 Orphanet:377791 obsolete morphological anomaly +MONDO:0034981 obsolete optic disk pit MONDO:0850010 Orphanet:519404 Orphanet:519333 congenital optic disk excavation +MONDO:0034981 obsolete optic disk pit MONDO:8000030 Orphanet:519404 Orphanet:377791 obsolete morphological anomaly +MONDO:0034987 intraductal tubulopapillary neoplasm of pancreas MONDO:0018520 Orphanet:580572 Orphanet:424033 obsolete rare epithelial tumor of pancreas +MONDO:0034989 intellectual disability-cardiac anomalies-short stature-joint laxity syndrome MONDO:0015329 Orphanet:508498 Orphanet:139021 obsolete malformation syndrome with short stature +MONDO:0034989 intellectual disability-cardiac anomalies-short stature-joint laxity syndrome MONDO:0015506 Orphanet:508498 Orphanet:156532 obsolete rare syndrome with cardiac malformations +MONDO:0034989 intellectual disability-cardiac anomalies-short stature-joint laxity syndrome MONDO:0026187 Orphanet:508498 Orphanet:183570 obsolete genetic malformation syndrome with short stature +MONDO:0034989 intellectual disability-cardiac anomalies-short stature-joint laxity syndrome MONDO:0035863 Orphanet:508498 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0034989 intellectual disability-cardiac anomalies-short stature-joint laxity syndrome MONDO:8000032 Orphanet:508498 Orphanet:377789 obsolete malformation syndrome +MONDO:0035001 obsolete rare disorder of the visual organs MONDO:0020004 Orphanet:520814 Orphanet:97966 obsolete rare eye disease +MONDO:0035002 obsolete isolated inherited retinal disorder MONDO:0019118 Orphanet:520817 Orphanet:71862 inherited retinal dystrophy +MONDO:0035004 serine biosynthesis pathway deficiency, infantile/juvenile form MONDO:0035862 Orphanet:583595 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome +MONDO:0035008 isolated splenic vein thrombosis MONDO:0019997 Orphanet:583856 Orphanet:97935 obsolete rare gastroenterologic disease +MONDO:0035009 isolated mesenteric vein thrombosis MONDO:0015245 Orphanet:583861 Orphanet:117569 obsolete rare intestinal disease +MONDO:0035013 obsolete genetic primary orthostatic disorder MONDO:0019117 Orphanet:521232 Orphanet:71859 obsolete genetic nervous system disorder +MONDO:0035014 obsolete primary orthostatic disorder MONDO:0020009 Orphanet:521236 Orphanet:98006 obsolete rare neurologic disease +MONDO:0035018 frontonasal dysplasia-bifid nose-upper limb anomalies syndrome MONDO:8000032 Orphanet:521308 Orphanet:377789 obsolete malformation syndrome +MONDO:0035027 microcephaly-facial dysmorphism-ocular anomalies-multiple congenital anomalies syndrome MONDO:0015145 Orphanet:521445 Orphanet:102006 obsolete neurovascular malformation +MONDO:0035027 microcephaly-facial dysmorphism-ocular anomalies-multiple congenital anomalies syndrome MONDO:0019589 Orphanet:521445 Orphanet:90642 obsolete syndromic genetic hearing loss +MONDO:0035027 microcephaly-facial dysmorphism-ocular anomalies-multiple congenital anomalies syndrome MONDO:0031949 Orphanet:521445 Orphanet:371436 obsolete genetic neurovascular malformation +MONDO:0035027 microcephaly-facial dysmorphism-ocular anomalies-multiple congenital anomalies syndrome MONDO:8000032 Orphanet:521445 Orphanet:377789 obsolete malformation syndrome +MONDO:0035037 obsolete rare genetic disorder of the visual organs MONDO:0015107 Orphanet:522504 Orphanet:101435 obsolete rare genetic eye disease +MONDO:0035075 obsolete secondary early-onset glaucoma of genetic origin MONDO:0018174 Orphanet:522580 Orphanet:359 hereditary glaucoma +MONDO:0035105 diaphragmatic hernia-short bowel-asplenia syndrome MONDO:0015212 Orphanet:527468 Orphanet:108969 obsolete syndromic intestinal malformation +MONDO:0035105 diaphragmatic hernia-short bowel-asplenia syndrome MONDO:0015214 Orphanet:527468 Orphanet:108973 obsolete syndromic visceral malformation +MONDO:0035105 diaphragmatic hernia-short bowel-asplenia syndrome MONDO:0015216 Orphanet:527468 Orphanet:108979 obsolete syndromic diaphragmatic or abdominal wall malformation +MONDO:0035105 diaphragmatic hernia-short bowel-asplenia syndrome MONDO:0015880 Orphanet:527468 Orphanet:180779 obsolete syndromic diaphragmatic or thoracic malformation +MONDO:0035105 diaphragmatic hernia-short bowel-asplenia syndrome MONDO:0018731 Orphanet:527468 Orphanet:459787 obsolete lethal multiple congenital anomalies/dysmorphic syndrome +MONDO:0035105 diaphragmatic hernia-short bowel-asplenia syndrome MONDO:8000032 Orphanet:527468 Orphanet:377789 obsolete malformation syndrome +MONDO:0035112 acute myeloid leukemia with BCR-ABL1 MONDO:0020078 Orphanet:585867 Orphanet:98277 obsolete acute myeloid leukemia with recurrent genetic anomaly +MONDO:0035117 PUM1-associated developmental disability-ataxia-seizure syndrome MONDO:0035862 Orphanet:589515 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome +MONDO:0035122 GRIN2B-related developmental delay, intellectual disability and autism spectrum disorder MONDO:0015878 Orphanet:589547 Orphanet:180772 obsolete rare disease with autism +MONDO:0035122 GRIN2B-related developmental delay, intellectual disability and autism spectrum disorder MONDO:0035862 Orphanet:589547 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome +MONDO:0035124 linear hypopigmentation and craniofacial asymmetry with acral, ocular and brain anomalies MONDO:0015336 Orphanet:589608 Orphanet:139042 obsolete malformation syndrome with odontal and/or periodontal component +MONDO:0035124 linear hypopigmentation and craniofacial asymmetry with acral, ocular and brain anomalies MONDO:0800094 Orphanet:589608 Orphanet:498454 obsolete dysostosis with brachydactyly with extraskeletal manifestations +MONDO:0035133 PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome MONDO:0016565 Orphanet:589905 Orphanet:240371 obsolete syndromic genetic obesity +MONDO:0035133 PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome MONDO:0020016 Orphanet:589905 Orphanet:98033 obsolete rare neurologic disease with psychiatric involvement +MONDO:0035133 PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome MONDO:0035863 Orphanet:589905 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0035149 secondary erythromelalgia MONDO:0020009 Orphanet:529864 Orphanet:98006 obsolete rare neurologic disease +MONDO:0035151 17q24.2 microdeletion syndrome MONDO:0035863 Orphanet:529962 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0035151 17q24.2 microdeletion syndrome MONDO:8000032 Orphanet:529962 Orphanet:377789 obsolete malformation syndrome +MONDO:0035153 male infertility due to acephalic spermatozoa MONDO:8000031 Orphanet:529970 Orphanet:557494 obsolete subtype of a disorder +MONDO:0035159 dermoid or epidermoid cyst of the central nervous system MONDO:0017104 Orphanet:530033 Orphanet:269194 obsolete central nervous system cystic malformation +MONDO:0035159 dermoid or epidermoid cyst of the central nervous system MONDO:8000030 Orphanet:530033 Orphanet:377791 obsolete morphological anomaly +MONDO:0035161 progressive dementia with neuroserpin inclusion bodies MONDO:8000031 Orphanet:530303 Orphanet:557494 obsolete subtype of a disorder +MONDO:0035162 obsolete PIK3CA-related overgrowth syndrome MONDO:0019716 Orphanet:530313 Orphanet:93460 overgrowth syndrome +MONDO:0035173 9q21.13 microdeletion syndrome MONDO:0035862 Orphanet:531151 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome +MONDO:0035173 9q21.13 microdeletion syndrome MONDO:8000032 Orphanet:531151 Orphanet:377789 obsolete malformation syndrome +MONDO:0035220 PLG-related hereditary angioedema with normal C1inh MONDO:0033947 Orphanet:537072 Orphanet:528647 obsolete hereditary angioedema with normal C1Inh +MONDO:0035220 PLG-related hereditary angioedema with normal C1inh MONDO:8000031 Orphanet:537072 Orphanet:557494 obsolete subtype of a disorder +MONDO:0035235 classic pyoderma gangrenosum MONDO:8000031 Orphanet:538863 Orphanet:557494 obsolete subtype of a disorder +MONDO:0035236 pustular pyoderma gangrenosum MONDO:8000031 Orphanet:538866 Orphanet:557494 obsolete subtype of a disorder +MONDO:0035237 bullous pyoderma gangrenosum MONDO:8000031 Orphanet:538869 Orphanet:557494 obsolete subtype of a disorder +MONDO:0035238 vegetative pyoderma gangrenosum MONDO:8000031 Orphanet:538872 Orphanet:557494 obsolete subtype of a disorder +MONDO:0035249 obsolete anomalous aortic origin of the left coronary artery MONDO:0035251 Orphanet:541443 Orphanet:541478 obsolete anomalous aortic origin of coronary artery +MONDO:0035249 obsolete anomalous aortic origin of the left coronary artery MONDO:8000030 Orphanet:541443 Orphanet:377791 obsolete morphological anomaly +MONDO:0035250 obsolete anomalous aortic origin of the right coronary artery MONDO:0035251 Orphanet:541454 Orphanet:541478 obsolete anomalous aortic origin of coronary artery +MONDO:0035250 obsolete anomalous aortic origin of the right coronary artery MONDO:8000030 Orphanet:541454 Orphanet:377791 obsolete morphological anomaly +MONDO:0035251 obsolete anomalous aortic origin of coronary artery MONDO:0015203 Orphanet:541478 Orphanet:1081 coronary artery congenital malformation +MONDO:0035252 obsolete anomalous origin of coronary artery from the pulmonary artery MONDO:0015203 Orphanet:541507 Orphanet:1081 coronary artery congenital malformation +MONDO:0035252 obsolete anomalous origin of coronary artery from the pulmonary artery MONDO:8000030 Orphanet:541507 Orphanet:377791 obsolete morphological anomaly +MONDO:0035267 obsolete quadricuspid aortic valve MONDO:0020286 Orphanet:542568 Orphanet:98718 obsolete aortic malformation +MONDO:0035267 obsolete quadricuspid aortic valve MONDO:8000030 Orphanet:542568 Orphanet:377791 obsolete morphological anomaly +MONDO:0035274 obsolete anomaly of the coronary ostia MONDO:0015203 Orphanet:542822 Orphanet:1081 coronary artery congenital malformation +MONDO:0035290 atypical hemolytic uremic syndrome with complement gene abnormality MONDO:8000031 Orphanet:544472 Orphanet:557494 obsolete subtype of a disorder +MONDO:0035293 streptococcus pneumoniae-associated hemolytic uremic syndrome MONDO:8000031 Orphanet:544493 Orphanet:557494 obsolete subtype of a disorder +MONDO:0035295 congenital primary megaureter, refluxing and obstructed form MONDO:8000031 Orphanet:544578 Orphanet:557494 obsolete subtype of a disorder +MONDO:0035312 fibrohistiocytic inflammatory pseudotumor of the liver MONDO:8000031 Orphanet:555434 Orphanet:557494 obsolete subtype of a disorder +MONDO:0035313 lymphoplasmacytic inflammatory pseudotumor of the liver MONDO:8000031 Orphanet:555437 Orphanet:557494 obsolete subtype of a disorder +MONDO:0035314 obsolete congenital tricuspid valve dysplasia MONDO:0020289 Orphanet:555874 Orphanet:98721 congenital tricuspid malformation +MONDO:0035314 obsolete congenital tricuspid valve dysplasia MONDO:8000030 Orphanet:555874 Orphanet:377791 obsolete morphological anomaly +MONDO:0035320 early-onset familial hypoaldosteronism MONDO:8000031 Orphanet:556030 Orphanet:557494 obsolete subtype of a disorder +MONDO:0035321 late-onset familial hypoaldosteronism MONDO:8000031 Orphanet:556037 Orphanet:557494 obsolete subtype of a disorder +MONDO:0035328 obsolete rare disorder due to poisoning MONDO:0015224 Orphanet:556508 Orphanet:108999 obsolete rare intoxication +MONDO:0035337 Duane retraction syndrome with congenital deafness MONDO:0017120 Orphanet:529574 Orphanet:269531 obsolete other syndrome with a central nervous system malformation as major feature +MONDO:0035337 Duane retraction syndrome with congenital deafness MONDO:0019589 Orphanet:529574 Orphanet:90642 obsolete syndromic genetic hearing loss +MONDO:0035337 Duane retraction syndrome with congenital deafness MONDO:0034961 Orphanet:529574 Orphanet:519341 obsolete rare brainstem or cerebellar disorder with ophthalmic involvement as a major feature +MONDO:0035337 Duane retraction syndrome with congenital deafness MONDO:8000032 Orphanet:529574 Orphanet:377789 obsolete malformation syndrome +MONDO:0035340 obsolete rare disorder with hirschsprung disease as a major feature MONDO:0015212 Orphanet:557866 Orphanet:108969 obsolete syndromic intestinal malformation +MONDO:0035344 acute bilirubin encephalopathy MONDO:0032013 Orphanet:529799 Orphanet:377792 obsolete clinical syndrome +MONDO:0035345 chronic bilirubin encephalopathy MONDO:0032013 Orphanet:529808 Orphanet:377792 obsolete clinical syndrome +MONDO:0035350 letrozole toxicity MONDO:0017633 Orphanet:529831 Orphanet:306640 obsolete rare intoxication due to medical products +MONDO:0035350 letrozole toxicity MONDO:0032014 Orphanet:529831 Orphanet:377793 obsolete particular clinical situation in a disease or syndrome +MONDO:0035357 portosinusoidal vascular disease MONDO:0015113 Orphanet:596937 Orphanet:101938 obsolete rare vascular liver disease +MONDO:0035362 TRIM22-related inflammatory bowel disease MONDO:0015187 Orphanet:597201 Orphanet:104012 obsolete rare inflammatory bowel disease +MONDO:0035362 TRIM22-related inflammatory bowel disease MONDO:0015616 Orphanet:597201 Orphanet:165655 obsolete rare genetic intestinal disease +MONDO:0035370 ALPI-related inflammatory bowel disease MONDO:0015187 Orphanet:597887 Orphanet:104012 obsolete rare inflammatory bowel disease +MONDO:0035370 ALPI-related inflammatory bowel disease MONDO:0015616 Orphanet:597887 Orphanet:165655 obsolete rare genetic intestinal disease +MONDO:0035383 FOXG1 syndrome MONDO:0015680 Orphanet:561854 Orphanet:168778 obsolete rare pervasive developmental disorder +MONDO:0035383 FOXG1 syndrome MONDO:0017656 Orphanet:561854 Orphanet:306765 obsolete motor stereotypies +MONDO:0035383 FOXG1 syndrome MONDO:0035862 Orphanet:561854 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome MONDO:0035398 obsolete hypomyelination of early myelinating structures MONDO:0000001 Orphanet:599376 Orphanet:377788 disease +MONDO:0035398 obsolete hypomyelination of early myelinating structures MONDO:0019046 Orphanet:599376 Orphanet:68356 leukodystrophy +MONDO:0035398 obsolete hypomyelination of early myelinating structures MONDO:0035862 Orphanet:599376 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome +MONDO:0035398 obsolete hypomyelination of early myelinating structures MONDO:0100309 Orphanet:599376 Orphanet:183518 hereditary ataxia +MONDO:0035400 seronegative autoimmune hepatitis MONDO:8000031 Orphanet:563589 Orphanet:557494 obsolete subtype of a disorder +MONDO:0035401 isolated anencephaly MONDO:8000031 Orphanet:563609 Orphanet:557494 obsolete subtype of a disorder +MONDO:0035402 isolated exencephaly MONDO:8000031 Orphanet:563612 Orphanet:557494 obsolete subtype of a disorder +MONDO:0035403 serous cystadenoma of childhood MONDO:8000031 Orphanet:563666 Orphanet:557494 obsolete subtype of a disorder +MONDO:0035404 mucinous cystadenoma of childhood MONDO:8000031 Orphanet:563671 Orphanet:557494 obsolete subtype of a disorder +MONDO:0035405 seromucinous cystadenoma of childhood MONDO:8000031 Orphanet:563676 Orphanet:557494 obsolete subtype of a disorder +MONDO:0035406 furuncular myiasis due to Dermatobia hominis MONDO:8000031 Orphanet:563684 Orphanet:557494 obsolete subtype of a disorder +MONDO:0035407 furuncular myiasis due to Cordylobia anthropophaga MONDO:8000031 Orphanet:563687 Orphanet:557494 obsolete subtype of a disorder +MONDO:0035408 furuncular myiasis due to Cordylobia rodhaini MONDO:8000031 Orphanet:563690 Orphanet:557494 obsolete subtype of a disorder +MONDO:0035410 isolated congenital aglossia MONDO:8000031 Orphanet:563951 Orphanet:557494 obsolete subtype of a disorder +MONDO:0035411 isolated congenital hypoglossia MONDO:8000031 Orphanet:563954 Orphanet:557494 obsolete subtype of a disorder +MONDO:0035423 triglyceride deposit cardiomyovasculopathy MONDO:0019996 Orphanet:565612 Orphanet:97929 obsolete rare cardiac disease +MONDO:0035426 obsolete rare disorder potentially indicated for transplant or complication after transplantation MONDO:8000033 Orphanet:565779 Orphanet:557492 obsolete group of disorders +MONDO:0035432 POMGNT2-related limb-girdle muscular dystrophy R24 MONDO:0018284 Orphanet:565899 Orphanet:371047 obsolete congenital disorder of glycosylation with neurological involvement +MONDO:0035432 POMGNT2-related limb-girdle muscular dystrophy R24 MONDO:0035862 Orphanet:565899 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome +MONDO:0035433 calpain-3-related limb-girdle muscular dystrophy D4 MONDO:0016152 Orphanet:565909 Orphanet:207104 obsolete qualitative or quantitative defects of calpain +MONDO:0035437 CEBPE-associated autoinflammation-immunodeficiency-neutrophil dysfunction syndrome MONDO:0017369 Orphanet:566067 Orphanet:290839 obsolete autoinflammatory syndrome with immune deficiency +MONDO:0035441 congenital autosomal recessive small-platelet thrombocytopenia MONDO:0018796 Orphanet:566192 Orphanet:477797 obsolete isolated constitutional thrombocytopenia +MONDO:0035444 acute mast cell leukemia MONDO:8000031 Orphanet:566393 Orphanet:557494 obsolete subtype of a disorder +MONDO:0035445 chronic mast cell leukemia MONDO:8000031 Orphanet:566396 Orphanet:557494 obsolete subtype of a disorder +MONDO:0035447 liver adenomatosis MONDO:0017632 Orphanet:566841 Orphanet:306636 obsolete rare tumor of liver and intrahepatic biliary tract +MONDO:0035448 obsolete aprosencephaly/atelencephaly spectrum MONDO:0017090 Orphanet:566847 Orphanet:268926 obsolete midline cerebral malformation +MONDO:0035448 obsolete aprosencephaly/atelencephaly spectrum MONDO:0018731 Orphanet:566847 Orphanet:459787 obsolete lethal multiple congenital anomalies/dysmorphic syndrome +MONDO:0035448 obsolete aprosencephaly/atelencephaly spectrum MONDO:8000030 Orphanet:566847 Orphanet:377791 obsolete morphological anomaly +MONDO:0035449 atelencephaly MONDO:0035448 Orphanet:566852 Orphanet:566847 obsolete aprosencephaly/atelencephaly spectrum +MONDO:0035449 atelencephaly MONDO:8000031 Orphanet:566852 Orphanet:557494 obsolete subtype of a disorder +MONDO:0035450 aprosencephaly MONDO:0035448 Orphanet:566857 Orphanet:566847 obsolete aprosencephaly/atelencephaly spectrum +MONDO:0035450 aprosencephaly MONDO:8000031 Orphanet:566857 Orphanet:557494 obsolete subtype of a disorder +MONDO:0035451 obsolete left sided atrial isomerism MONDO:0017131 Orphanet:566862 Orphanet:271853 obsolete hereditary cardiac anomaly +MONDO:0035451 obsolete left sided atrial isomerism MONDO:0018677 Orphanet:566862 Orphanet:450 visceral heterotaxy +MONDO:0035451 obsolete left sided atrial isomerism MONDO:8000032 Orphanet:566862 Orphanet:377789 obsolete malformation syndrome +MONDO:0035454 B-cell immunodeficiency-limb anomaly-urogenital malformation syndrome MONDO:0015620 Orphanet:567502 Orphanet:165707 obsolete syndromic urogenital tract malformation +MONDO:0035454 B-cell immunodeficiency-limb anomaly-urogenital malformation syndrome MONDO:0017434 Orphanet:567502 Orphanet:294959 obsolete syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy +MONDO:0035454 B-cell immunodeficiency-limb anomaly-urogenital malformation syndrome MONDO:0043008 Orphanet:567502 Orphanet:330206 obsolete genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability +MONDO:0035459 idiopathic multidrug-resistant nephrotic syndrome MONDO:8000031 Orphanet:567550 Orphanet:557494 obsolete subtype of a disorder +MONDO:0035460 idiopathic steroid-resistant nephrotic syndrome with sensitivity to second-line immunosuppressive therapy MONDO:8000031 Orphanet:567552 Orphanet:557494 obsolete subtype of a disorder +MONDO:0035461 obsolete systemic disease with glomerulopathy as a major feature MONDO:0019722 Orphanet:567554 Orphanet:93548 glomerular disorder +MONDO:0035466 obsolete nephrotic syndrome without extrarenal manifestations MONDO:0019722 Orphanet:567564 Orphanet:93548 glomerular disorder +MONDO:0035469 obsolete primary lymphedema without systemic or visceral involvement MONDO:0019175 Orphanet:568041 Orphanet:77240 primary lymphedema +MONDO:0035470 obsolete primary lymphedema with systemic or visceral involvement MONDO:0019175 Orphanet:568044 Orphanet:77240 primary lymphedema +MONDO:0035471 obsolete disorder with multisystemic involvement and primary lymphedema MONDO:0019175 Orphanet:568047 Orphanet:77240 primary lymphedema +MONDO:0035473 warts-immunodeficiency-lymphedema-anogenital dysplasia syndrome MONDO:0018033 Orphanet:568056 Orphanet:331193 obsolete other immunodeficiency syndromes due to defects in innate immunity +MONDO:0035473 warts-immunodeficiency-lymphedema-anogenital dysplasia syndrome MONDO:0019305 Orphanet:568056 Orphanet:79391 obsolete immune deficiency with skin involvement +MONDO:0035473 warts-immunodeficiency-lymphedema-anogenital dysplasia syndrome MONDO:0026166 Orphanet:568056 Orphanet:183494 obsolete genetic immune deficiency with skin involvement +MONDO:0035473 warts-immunodeficiency-lymphedema-anogenital dysplasia syndrome MONDO:0035470 Orphanet:568056 Orphanet:568044 obsolete primary lymphedema with systemic or visceral involvement +MONDO:0035474 PIEZO1-related generalized lymphatic dysplasia with non-immune hydrops fetalis MONDO:0035470 Orphanet:568062 Orphanet:568044 obsolete primary lymphedema with systemic or visceral involvement +MONDO:0035475 EPHB4-related lymphatic-related hydrops fetalis MONDO:0020294 Orphanet:568065 Orphanet:98727 obsolete atrial defect and interatrial communication +MONDO:0035475 EPHB4-related lymphatic-related hydrops fetalis MONDO:0035470 Orphanet:568065 Orphanet:568044 obsolete primary lymphedema with systemic or visceral involvement +MONDO:0035511 ricin poisoning MONDO:0035328 Orphanet:570470 Orphanet:556508 obsolete rare disorder due to poisoning +MONDO:0035521 blepharophimosis-ptosis-epicanthus inversus syndrome plus MONDO:0017119 Orphanet:572333 Orphanet:269528 obsolete syndrome with microcephaly as major feature +MONDO:0035521 blepharophimosis-ptosis-epicanthus inversus syndrome plus MONDO:0020169 Orphanet:572333 Orphanet:98578 obsolete rare disorder with ptosis +MONDO:0035521 blepharophimosis-ptosis-epicanthus inversus syndrome plus MONDO:0035863 Orphanet:572333 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0035521 blepharophimosis-ptosis-epicanthus inversus syndrome plus MONDO:8000032 Orphanet:572333 Orphanet:377789 obsolete malformation syndrome +MONDO:0035524 blepharophimosis-ptosis-epicanthus inversus syndrome type 1 MONDO:0018401 Orphanet:572354 Orphanet:399853 obsolete female infertility due to an anomaly of ovarian function +MONDO:0035524 blepharophimosis-ptosis-epicanthus inversus syndrome type 1 MONDO:0018413 Orphanet:572354 Orphanet:400022 obsolete female infertility due to an anomaly of ovarian function of genetic origin +MONDO:0035524 blepharophimosis-ptosis-epicanthus inversus syndrome type 1 MONDO:0034443 Orphanet:572354 Orphanet:485382 obsolete genetic non-acquired premature ovarian failure +MONDO:0035524 blepharophimosis-ptosis-epicanthus inversus syndrome type 1 MONDO:8000031 Orphanet:572354 Orphanet:557494 obsolete subtype of a disorder +MONDO:0035525 blepharophimosis-ptosis-epicanthus inversus syndrome type 2 MONDO:8000031 Orphanet:572361 Orphanet:557494 obsolete subtype of a disorder +MONDO:0035529 infantile-onset pulmonary alveolar proteinosis-hypogammaglobulinemia MONDO:0015052 Orphanet:572428 Orphanet:100049 obsolete primary interstitial lung disease specific to childhood due to pulmonary surfactant protein anomalies +MONDO:0035529 infantile-onset pulmonary alveolar proteinosis-hypogammaglobulinemia MONDO:0017369 Orphanet:572428 Orphanet:290839 obsolete autoinflammatory syndrome with immune deficiency +MONDO:0035534 DONSON-related microcephaly-short stature-limb abnormalities spectrum MONDO:0015329 Orphanet:572761 Orphanet:139021 obsolete malformation syndrome with short stature +MONDO:0035534 DONSON-related microcephaly-short stature-limb abnormalities spectrum MONDO:0017950 Orphanet:572761 Orphanet:324761 obsolete microcephalic primordial dwarfism +MONDO:0035534 DONSON-related microcephaly-short stature-limb abnormalities spectrum MONDO:0019699 Orphanet:572761 Orphanet:93440 obsolete slender bone dysplasia +MONDO:0035534 DONSON-related microcephaly-short stature-limb abnormalities spectrum MONDO:0026187 Orphanet:572761 Orphanet:183570 obsolete genetic malformation syndrome with short stature +MONDO:0035534 DONSON-related microcephaly-short stature-limb abnormalities spectrum MONDO:8000032 Orphanet:572761 Orphanet:377789 obsolete malformation syndrome +MONDO:0035541 obsolete split cord malformation type II MONDO:0035542 Orphanet:573253 Orphanet:573278 obsolete split cord malformation +MONDO:0035541 obsolete split cord malformation type II MONDO:8000030 Orphanet:573253 Orphanet:377791 obsolete morphological anomaly +MONDO:0035542 obsolete split cord malformation MONDO:0017085 Orphanet:573278 Orphanet:268843 obsolete malformation of the neurenteric canal, spinal cord and column +MONDO:0035547 predisposition to severe viral infection due to IRF7 deficiency MONDO:0018545 Orphanet:574918 Orphanet:431156 obsolete primary immunodeficiency with predisposition to severe viral infection +MONDO:0035548 autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial jak1 deficiency MONDO:0017898 Orphanet:574957 Orphanet:319539 obsolete autosomal recessive mendelian susceptibility to mycobacterial diseases due to a partial deficiency +MONDO:0035551 cathepsin a-related arteriopathy-strokes-leukoencephalopathy MONDO:0018787 Orphanet:575553 Orphanet:477754 obsolete genetic cerebral small vessel disease +MONDO:0035551 cathepsin a-related arteriopathy-strokes-leukoencephalopathy MONDO:0020144 Orphanet:575553 Orphanet:98549 obsolete cerebrovascular dementia +MONDO:0035554 obsolete complete atrioventricular septal defect without ventricular hypoplasia MONDO:0015273 Orphanet:576227 Orphanet:1329 complete atrioventricular canal +MONDO:0035554 obsolete complete atrioventricular septal defect without ventricular hypoplasia MONDO:8000031 Orphanet:576227 Orphanet:557494 obsolete subtype of a disorder +MONDO:0035555 obsolete partial atrioventricular septal defect with ventricular hypoplasia MONDO:0015275 Orphanet:576232 Orphanet:1330 partial atrioventricular canal +MONDO:0035555 obsolete partial atrioventricular septal defect with ventricular hypoplasia MONDO:8000031 Orphanet:576232 Orphanet:557494 obsolete subtype of a disorder +MONDO:0035556 obsolete partial atrioventricular septal defect without ventricular hypoplasia MONDO:0015275 Orphanet:576235 Orphanet:1330 partial atrioventricular canal +MONDO:0035556 obsolete partial atrioventricular septal defect without ventricular hypoplasia MONDO:8000031 Orphanet:576235 Orphanet:557494 obsolete subtype of a disorder +MONDO:0035557 obsolete intermediate atrioventricular septal defect MONDO:0020290 Orphanet:576242 Orphanet:98722 familial atrioventricular septal defect +MONDO:0035557 obsolete intermediate atrioventricular septal defect MONDO:8000030 Orphanet:576242 Orphanet:377791 obsolete morphological anomaly +MONDO:0035561 obsolete sporadic human prion disease MONDO:0018926 Orphanet:576356 Orphanet:56970 human prion disease +MONDO:0035581 obsolete lethal brain and heart developmental defects MONDO:0015506 Orphanet:580933 Orphanet:156532 obsolete rare syndrome with cardiac malformations +MONDO:0035581 obsolete lethal brain and heart developmental defects MONDO:0017118 Orphanet:580933 Orphanet:269523 obsolete syndrome with a cerebellar malformation as major feature +MONDO:0035581 obsolete lethal brain and heart developmental defects MONDO:0018731 Orphanet:580933 Orphanet:459787 obsolete lethal multiple congenital anomalies/dysmorphic syndrome +MONDO:0035581 obsolete lethal brain and heart developmental defects MONDO:0043009 Orphanet:580933 Orphanet:471383 hereditary lethal multiple congenital anomalies/dysmorphic syndrome +MONDO:0035581 obsolete lethal brain and heart developmental defects MONDO:8000032 Orphanet:580933 Orphanet:377789 obsolete malformation syndrome +MONDO:0035584 punctate inner choroidopathy MONDO:0019541 Orphanet:580951 Orphanet:90061 obsolete non-infectious posterior uveitis +MONDO:0035586 Cramp-fasciculation syndrome MONDO:0018497 Orphanet:581271 Orphanet:423662 obsolete rare autonomic nervous system disorder +MONDO:0035586 Cramp-fasciculation syndrome MONDO:0018557 Orphanet:581271 Orphanet:434786 obsolete rare genetic autonomic nervous system disorder +MONDO:0035586 Cramp-fasciculation syndrome MONDO:0038268 Orphanet:581271 Orphanet:98750 obsolete autoimmune neurological channelopathy +MONDO:0035592 congenital infiltrating lipomatosis of the face MONDO:0035162 Orphanet:583097 Orphanet:530313 obsolete PIK3CA-related overgrowth syndrome +MONDO:0035605 B-lymphoblastic leukemia/lymphoma with recurrent genetic abnormality MONDO:8000031 Orphanet:585877 Orphanet:557494 obsolete subtype of a disorder +MONDO:0035614 sporadic fatal insomnia MONDO:0035561 Orphanet:586130 Orphanet:576356 obsolete sporadic human prion disease +MONDO:0035639 mixed phenotype acute leukemia with t(9;22)(q34.1;q11.2) MONDO:8000031 Orphanet:589534 Orphanet:557494 obsolete subtype of a disorder +MONDO:0035642 mixed phenotype acute leukemia with t(v;11q23.3) MONDO:8000031 Orphanet:589595 Orphanet:557494 obsolete subtype of a disorder +MONDO:0035645 obsolete inherited gynecological cancer-predisposing syndrome MONDO:0015356 Orphanet:589746 Orphanet:140162 hereditary neoplastic syndrome +MONDO:0035646 congenital-onset Steinert myotonic dystrophy MONDO:0035862 Orphanet:589821 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome +MONDO:0035646 congenital-onset Steinert myotonic dystrophy MONDO:8000031 Orphanet:589821 Orphanet:557494 obsolete subtype of a disorder +MONDO:0035647 childhood-onset Steinert myotonic dystrophy MONDO:0035862 Orphanet:589824 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome +MONDO:0035647 childhood-onset Steinert myotonic dystrophy MONDO:8000031 Orphanet:589824 Orphanet:557494 obsolete subtype of a disorder +MONDO:0035648 juvenile-onset Steinert myotonic dystrophy MONDO:0035862 Orphanet:589827 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome +MONDO:0035648 juvenile-onset Steinert myotonic dystrophy MONDO:8000031 Orphanet:589827 Orphanet:557494 obsolete subtype of a disorder +MONDO:0035649 adult-onset Steinert myotonic dystrophy MONDO:0035862 Orphanet:589830 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome +MONDO:0035649 adult-onset Steinert myotonic dystrophy MONDO:8000031 Orphanet:589830 Orphanet:557494 obsolete subtype of a disorder +MONDO:0035650 late-onset Steinert myotonic dystrophy MONDO:8000031 Orphanet:589833 Orphanet:557494 obsolete subtype of a disorder +MONDO:0035651 choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome MONDO:0015503 Orphanet:589856 Orphanet:156246 obsolete nose and cavum anomaly +MONDO:0035651 choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome MONDO:0015778 Orphanet:589856 Orphanet:177107 obsolete syndromic hypothyroidism +MONDO:0035651 choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome MONDO:0015895 Orphanet:589856 Orphanet:181402 obsolete syndrome with hypoparathyroidism +MONDO:0035651 choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome MONDO:0019589 Orphanet:589856 Orphanet:90642 obsolete syndromic genetic hearing loss +MONDO:0035651 choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome MONDO:0033334 Orphanet:589856 Orphanet:435606 obsolete genetic nose and cavum anomaly +MONDO:0035651 choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome MONDO:0035863 Orphanet:589856 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0035651 choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome MONDO:8000032 Orphanet:589856 Orphanet:377789 obsolete malformation syndrome +MONDO:0035660 GNAO1-related developmental delay-seizures-movement disorder spectrum MONDO:0034641 Orphanet:592564 Orphanet:496916 obsolete rare genetic hyperkinetic movement disorder +MONDO:0035660 GNAO1-related developmental delay-seizures-movement disorder spectrum MONDO:0035862 Orphanet:592564 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome +MONDO:0035660 GNAO1-related developmental delay-seizures-movement disorder spectrum MONDO:0044636 Orphanet:592564 Orphanet:494457 obsolete rare hyperkinetic movement disorder +MONDO:0035661 TRAF7-associated heart defect-digital anomalies-facial dysmorphism-motor and speech delay syndrome MONDO:0015226 Orphanet:592570 Orphanet:109009 obsolete syndrome with limb malformations as a major feature +MONDO:0035661 TRAF7-associated heart defect-digital anomalies-facial dysmorphism-motor and speech delay syndrome MONDO:0015506 Orphanet:592570 Orphanet:156532 obsolete rare syndrome with cardiac malformations +MONDO:0035661 TRAF7-associated heart defect-digital anomalies-facial dysmorphism-motor and speech delay syndrome MONDO:0017120 Orphanet:592570 Orphanet:269531 obsolete other syndrome with a central nervous system malformation as major feature +MONDO:0035661 TRAF7-associated heart defect-digital anomalies-facial dysmorphism-motor and speech delay syndrome MONDO:0035863 Orphanet:592570 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0035661 TRAF7-associated heart defect-digital anomalies-facial dysmorphism-motor and speech delay syndrome MONDO:8000032 Orphanet:592570 Orphanet:377789 obsolete malformation syndrome +MONDO:0035663 neuromyelitis optica spectrum disorder with anti-AQP4 antibodies MONDO:8000031 Orphanet:592850 Orphanet:557494 obsolete subtype of a disorder +MONDO:0035664 neuromyelitis optica spectrum disorder with anti-MOG antibodies MONDO:8000031 Orphanet:592856 Orphanet:557494 obsolete subtype of a disorder +MONDO:0035665 neuromyelitis optica spectrum disorder without anti-MOG and without anti-AQP4 antibodies MONDO:8000031 Orphanet:592869 Orphanet:557494 obsolete subtype of a disorder +MONDO:0035666 acute transverse myelitis with anti-MOG antibodies MONDO:8000031 Orphanet:592873 Orphanet:557494 obsolete subtype of a disorder +MONDO:0035667 isolated optic neuritis without anti-MOG antibodies MONDO:8000031 Orphanet:592885 Orphanet:557494 obsolete subtype of a disorder +MONDO:0035668 isolated optic neuritis with anti-MOG antibodies MONDO:8000031 Orphanet:592888 Orphanet:557494 obsolete subtype of a disorder +MONDO:0035669 acute disseminated encephalomyelitis with anti-MOG antibodies MONDO:8000031 Orphanet:592894 Orphanet:557494 obsolete subtype of a disorder +MONDO:0035670 acute disseminated encephalomyelitis without anti-MOG antibodies MONDO:8000031 Orphanet:592900 Orphanet:557494 obsolete subtype of a disorder +MONDO:0035678 Timothy syndrome type 1 MONDO:8000031 Orphanet:595098 Orphanet:557494 obsolete subtype of a disorder +MONDO:0035679 Timothy syndrome type 2 MONDO:8000031 Orphanet:595105 Orphanet:557494 obsolete subtype of a disorder +MONDO:0035682 obsolete fibrous dysplasia/McCune-Albright syndrome MONDO:0800089 Orphanet:595216 Orphanet:93450 obsolete primary bone dysplasia with disorganized development of skeletal components +MONDO:0035683 obsolete adrenal hypoplasia congenita MONDO:0020999 Orphanet:595337 Orphanet:101960 obsolete genetic chronic primary adrenal insufficiency +MONDO:0035684 obsolete epidermolysis bullosa simplex without extracutaneous involvement MONDO:0017610 Orphanet:595346 Orphanet:304 epidermolysis bullosa simplex +MONDO:0035685 obsolete epidermolysis bullosa simplex with extracutaneous involvement MONDO:0017610 Orphanet:595351 Orphanet:304 epidermolysis bullosa simplex +MONDO:0035689 obsolete syndrome of reduced sensitivity to thyroid hormone MONDO:0015125 Orphanet:596426 Orphanet:101955 obsolete rare thyroid disease +MONDO:0035689 obsolete syndrome of reduced sensitivity to thyroid hormone MONDO:0015969 Orphanet:596426 Orphanet:183631 obsolete rare genetic thyroid disease +MONDO:0035694 combined immunodeficiency due to RELA haploinsufficiency MONDO:0019305 Orphanet:596759 Orphanet:79391 obsolete immune deficiency with skin involvement +MONDO:0035694 combined immunodeficiency due to RELA haploinsufficiency MONDO:0026166 Orphanet:596759 Orphanet:183494 obsolete genetic immune deficiency with skin involvement +MONDO:0035696 incomplete septal cirrhosis MONDO:8000031 Orphanet:596941 Orphanet:557494 obsolete subtype of a disorder +MONDO:0035706 SETD2-related microcephaly-severe intellectual disability-multiple congenital anomalies syndrome MONDO:0015506 Orphanet:597743 Orphanet:156532 obsolete rare syndrome with cardiac malformations +MONDO:0035706 SETD2-related microcephaly-severe intellectual disability-multiple congenital anomalies syndrome MONDO:0015620 Orphanet:597743 Orphanet:165707 obsolete syndromic urogenital tract malformation +MONDO:0035706 SETD2-related microcephaly-severe intellectual disability-multiple congenital anomalies syndrome MONDO:0017119 Orphanet:597743 Orphanet:269528 obsolete syndrome with microcephaly as major feature +MONDO:0035706 SETD2-related microcephaly-severe intellectual disability-multiple congenital anomalies syndrome MONDO:0019721 Orphanet:597743 Orphanet:93547 obsolete syndromic renal or urinary tract malformation +MONDO:0035706 SETD2-related microcephaly-severe intellectual disability-multiple congenital anomalies syndrome MONDO:0035863 Orphanet:597743 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0035706 SETD2-related microcephaly-severe intellectual disability-multiple congenital anomalies syndrome MONDO:8000032 Orphanet:597743 Orphanet:377789 obsolete malformation syndrome +MONDO:0035707 blepharophimosis-intellectual disability syndrome/genitopatellar overlap syndrome MONDO:0015778 Orphanet:597746 Orphanet:177107 obsolete syndromic hypothyroidism +MONDO:0035707 blepharophimosis-intellectual disability syndrome/genitopatellar overlap syndrome MONDO:8000032 Orphanet:597746 Orphanet:377789 obsolete malformation syndrome +MONDO:0035713 FOXG1 syndrome due to intragenic alteration MONDO:8000031 Orphanet:598164 Orphanet:557494 obsolete subtype of a disorder +MONDO:0035734 hereditary angioedema with normal C1inh not related to F12 or PLG variant MONDO:0033947 Orphanet:599418 Orphanet:528647 obsolete hereditary angioedema with normal C1Inh +MONDO:0035734 hereditary angioedema with normal C1inh not related to F12 or PLG variant MONDO:8000031 Orphanet:599418 Orphanet:557494 obsolete subtype of a disorder +MONDO:0035735 acquired hemophilia A MONDO:0015662 Orphanet:599480 Orphanet:166775 obsolete hemorrhagic disorder due to an acquired coagulation factor defect +MONDO:0035736 acquired hemophilia B MONDO:0015662 Orphanet:599485 Orphanet:166775 obsolete hemorrhagic disorder due to an acquired coagulation factor defect +MONDO:0035737 acquired factor V deficiency MONDO:0015662 Orphanet:599490 Orphanet:166775 obsolete hemorrhagic disorder due to an acquired coagulation factor defect +MONDO:0035738 acquired factor VII deficiency MONDO:0015662 Orphanet:599495 Orphanet:166775 obsolete hemorrhagic disorder due to an acquired coagulation factor defect +MONDO:0035740 acquired factor XI deficiency MONDO:0015662 Orphanet:599507 Orphanet:166775 obsolete hemorrhagic disorder due to an acquired coagulation factor defect +MONDO:0035742 factor V short isoforms-related bleeding disorder MONDO:0019039 Orphanet:599519 Orphanet:68334 obsolete rare hemorrhagic disorder due to a constitutional coagulation factors defect +MONDO:0035743 factor V amsterdam bleeding disorder MONDO:8000031 Orphanet:599579 Orphanet:557494 obsolete subtype of a disorder +MONDO:0035759 factor V atlanta bleeding disorder MONDO:8000031 Orphanet:600194 Orphanet:557494 obsolete subtype of a disorder +MONDO:0035763 idiopathic non-lupus full-house nephropathy MONDO:0032013 Orphanet:567544 Orphanet:377792 obsolete clinical syndrome +MONDO:0035764 idiopathic steroid-sensitive nephrotic syndrome with secondary steroid resistance MONDO:0032013 Orphanet:567546 Orphanet:377792 obsolete clinical syndrome +MONDO:0035774 NRXN1-related severe neurodevelopmental disorder-motor stereotypies-chronic constipation-sleep-wake cycle disturbance MONDO:0015680 Orphanet:600663 Orphanet:168778 obsolete rare pervasive developmental disorder +MONDO:0035774 NRXN1-related severe neurodevelopmental disorder-motor stereotypies-chronic constipation-sleep-wake cycle disturbance MONDO:0019045 Orphanet:600663 Orphanet:68354 obsolete rare sleep disorder +MONDO:0035774 NRXN1-related severe neurodevelopmental disorder-motor stereotypies-chronic constipation-sleep-wake cycle disturbance MONDO:0035862 Orphanet:600663 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome +MONDO:0035774 NRXN1-related severe neurodevelopmental disorder-motor stereotypies-chronic constipation-sleep-wake cycle disturbance MONDO:8000032 Orphanet:600663 Orphanet:377789 obsolete malformation syndrome +MONDO:0035775 CCNK-related neurodevelopmental disorder-severe intellectual disability-facial dysmorphism syndrome MONDO:0035863 Orphanet:600668 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0035776 combined deficiency of factor VII and factor X MONDO:0019039 Orphanet:600691 Orphanet:68334 obsolete rare hemorrhagic disorder due to a constitutional coagulation factors defect +MONDO:0035777 parenteral nutrition-associated cholestasis MONDO:0015116 Orphanet:567983 Orphanet:101941 obsolete rare biliary tract disease +MONDO:0035777 parenteral nutrition-associated cholestasis MONDO:0032014 Orphanet:567983 Orphanet:377793 obsolete particular clinical situation in a disease or syndrome +MONDO:0035780 obsolete non-syndromic anorectal malformation with perineal fistula MONDO:0018916 Orphanet:600952 Orphanet:557 obsolete isolated anorectal malformation +MONDO:0035780 obsolete non-syndromic anorectal malformation with perineal fistula MONDO:8000030 Orphanet:600952 Orphanet:377791 obsolete morphological anomaly +MONDO:0035781 obsolete non-syndromic anorectal malformation with rectourethral fistula MONDO:0018916 Orphanet:600961 Orphanet:557 obsolete isolated anorectal malformation +MONDO:0035781 obsolete non-syndromic anorectal malformation with rectourethral fistula MONDO:8000030 Orphanet:600961 Orphanet:377791 obsolete morphological anomaly +MONDO:0035782 non-syndromic anorectal malformation with rectourethral fistula, bulbar type MONDO:0035781 Orphanet:600966 Orphanet:600961 obsolete non-syndromic anorectal malformation with rectourethral fistula +MONDO:0035782 non-syndromic anorectal malformation with rectourethral fistula, bulbar type MONDO:8000031 Orphanet:600966 Orphanet:557494 obsolete subtype of a disorder +MONDO:0035783 non-syndromic anorectal malformation with rectourethral fistula, prostatic type MONDO:0035781 Orphanet:600975 Orphanet:600961 obsolete non-syndromic anorectal malformation with rectourethral fistula +MONDO:0035783 non-syndromic anorectal malformation with rectourethral fistula, prostatic type MONDO:8000031 Orphanet:600975 Orphanet:557494 obsolete subtype of a disorder +MONDO:0035784 obsolete non-syndromic anorectal malformation with rectovesical fistula MONDO:0018916 Orphanet:600984 Orphanet:557 obsolete isolated anorectal malformation +MONDO:0035784 obsolete non-syndromic anorectal malformation with rectovesical fistula MONDO:8000030 Orphanet:600984 Orphanet:377791 obsolete morphological anomaly +MONDO:0035785 obsolete non-syndromic anorectal malformation with vestibular fistula MONDO:0018916 Orphanet:600993 Orphanet:557 obsolete isolated anorectal malformation +MONDO:0035785 obsolete non-syndromic anorectal malformation with vestibular fistula MONDO:8000030 Orphanet:600993 Orphanet:377791 obsolete morphological anomaly +MONDO:0035786 obsolete non-syndromic cloacal malformation MONDO:0018916 Orphanet:600998 Orphanet:557 obsolete isolated anorectal malformation +MONDO:0035786 obsolete non-syndromic cloacal malformation MONDO:8000030 Orphanet:600998 Orphanet:377791 obsolete morphological anomaly +MONDO:0035787 obsolete non-syndromic anorectal malformation without fistula MONDO:0018916 Orphanet:601002 Orphanet:557 obsolete isolated anorectal malformation +MONDO:0035787 obsolete non-syndromic anorectal malformation without fistula MONDO:8000030 Orphanet:601002 Orphanet:377791 obsolete morphological anomaly +MONDO:0035788 obsolete non-syndromic anorectal malformation with anal stenosis MONDO:0018916 Orphanet:601008 Orphanet:557 obsolete isolated anorectal malformation +MONDO:0035788 obsolete non-syndromic anorectal malformation with anal stenosis MONDO:8000030 Orphanet:601008 Orphanet:377791 obsolete morphological anomaly +MONDO:0035789 obsolete non-syndromic anorectal malformation with pouch colon MONDO:0018916 Orphanet:601013 Orphanet:557 obsolete isolated anorectal malformation +MONDO:0035789 obsolete non-syndromic anorectal malformation with pouch colon MONDO:8000030 Orphanet:601013 Orphanet:377791 obsolete morphological anomaly +MONDO:0035790 obsolete non-syndromic anorectal malformation with rectal atresia MONDO:0018916 Orphanet:601018 Orphanet:557 obsolete isolated anorectal malformation +MONDO:0035790 obsolete non-syndromic anorectal malformation with rectal atresia MONDO:8000030 Orphanet:601018 Orphanet:377791 obsolete morphological anomaly +MONDO:0035791 obsolete non-syndromic anorectal malformation with rectal stenosis MONDO:0018916 Orphanet:601023 Orphanet:557 obsolete isolated anorectal malformation +MONDO:0035791 obsolete non-syndromic anorectal malformation with rectal stenosis MONDO:8000030 Orphanet:601023 Orphanet:377791 obsolete morphological anomaly +MONDO:0035792 obsolete non-syndromic anorectal malformation with rectovaginal fistula MONDO:0018916 Orphanet:601028 Orphanet:557 obsolete isolated anorectal malformation +MONDO:0035792 obsolete non-syndromic anorectal malformation with rectovaginal fistula MONDO:8000030 Orphanet:601028 Orphanet:377791 obsolete morphological anomaly +MONDO:0035793 obsolete non-syndromic anorectal malformation with h-type fistula MONDO:0018916 Orphanet:601033 Orphanet:557 obsolete isolated anorectal malformation +MONDO:0035793 obsolete non-syndromic anorectal malformation with h-type fistula MONDO:8000030 Orphanet:601033 Orphanet:377791 obsolete morphological anomaly +MONDO:0035819 cerebellar hypoplasia-intellectual disability-congenital microcephaly-dystonia-anemia-growth retardation syndrome MONDO:0017120 Orphanet:603448 Orphanet:269531 obsolete other syndrome with a central nervous system malformation as major feature +MONDO:0035819 cerebellar hypoplasia-intellectual disability-congenital microcephaly-dystonia-anemia-growth retardation syndrome MONDO:0035863 Orphanet:603448 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0035819 cerebellar hypoplasia-intellectual disability-congenital microcephaly-dystonia-anemia-growth retardation syndrome MONDO:8000032 Orphanet:603448 Orphanet:377789 obsolete malformation syndrome +MONDO:0035821 isolated female hypospadias MONDO:0015932 Orphanet:603515 Orphanet:182117 obsolete non-syndromic urogenital tract malformation of female +MONDO:0035821 isolated female hypospadias MONDO:8000030 Orphanet:603515 Orphanet:377791 obsolete morphological anomaly +MONDO:0035823 KLHL7-related Bohring-Opitz-like syndrome MONDO:0035863 Orphanet:603689 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0035823 KLHL7-related Bohring-Opitz-like syndrome MONDO:8000032 Orphanet:603689 Orphanet:377789 obsolete malformation syndrome +MONDO:0035824 KLHL7-related cold-induced sweating-like syndrome MONDO:0034953 Orphanet:603694 Orphanet:519325 obsolete syndromic inherited retinal disorder +MONDO:0035826 symptomatic form of X-linked centronuclear myopathy in female carriers MONDO:0016154 Orphanet:604680 Orphanet:207110 obsolete qualitative or quantitative defects of myotubularin +MONDO:0035838 idiopathic multicentric Castleman disease MONDO:8000031 Orphanet:570431 Orphanet:557494 obsolete subtype of a disorder +MONDO:0035862 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome MONDO:0015162 Orphanet:611314 Orphanet:102369 obsolete rare syndromic intellectual disability +MONDO:0035862 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome MONDO:0015983 Orphanet:611314 Orphanet:183763 obsolete rare genetic syndromic intellectual disability +MONDO:0035863 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability MONDO:0015983 Orphanet:611327 Orphanet:183763 obsolete rare genetic syndromic intellectual disability +MONDO:0035863 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability MONDO:0043005 Orphanet:611327 Orphanet:183533 obsolete genetic multiple congenital anomalies/dysmorphic syndrome +MONDO:0035879 granuloma faciale MONDO:0019546 Orphanet:615943 Orphanet:90077 obsolete other acquired skin disease +MONDO:0035882 chronic intervillositis of unknown etiology MONDO:0015582 Orphanet:615970 Orphanet:163637 obsolete rare disorder related with pregnancy, childbirth and puerperium +MONDO:0035930 neu-laxova syndrome due to 3-phosphoserine phosphatase deficiency MONDO:8000031 Orphanet:583612 Orphanet:557494 obsolete subtype of a disorder +MONDO:0036042 KAT6B-related multiple congenital anomalies syndrome MONDO:0015620 Orphanet:597749 Orphanet:165707 obsolete syndromic urogenital tract malformation +MONDO:0036042 KAT6B-related multiple congenital anomalies syndrome MONDO:0019712 Orphanet:597749 Orphanet:93455 obsolete patellar dysostosis +MONDO:0036042 KAT6B-related multiple congenital anomalies syndrome MONDO:0035863 Orphanet:597749 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0036045 euthyroid dysprealbuminemic hyperthyroxinemia MONDO:0035689 Orphanet:597939 Orphanet:596426 obsolete syndrome of reduced sensitivity to thyroid hormone +MONDO:0036189 oculogastrointestinal-neurodevelopmental syndrome MONDO:0015246 Orphanet:611201 Orphanet:117573 obsolete syndromic anorectal malformation +MONDO:0036189 oculogastrointestinal-neurodevelopmental syndrome MONDO:0019589 Orphanet:611201 Orphanet:90642 obsolete syndromic genetic hearing loss +MONDO:0036189 oculogastrointestinal-neurodevelopmental syndrome MONDO:0035863 Orphanet:611201 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0036189 oculogastrointestinal-neurodevelopmental syndrome MONDO:8000032 Orphanet:611201 Orphanet:377789 obsolete malformation syndrome +MONDO:0036192 obsolete EN1-related dorsoventral syndrome MONDO:0017118 Orphanet:611223 Orphanet:269523 obsolete syndrome with a cerebellar malformation as major feature +MONDO:0036192 obsolete EN1-related dorsoventral syndrome MONDO:0019697 Orphanet:611223 Orphanet:93438 obsolete mesomelic and rhizo-mesomelic dysplasia +MONDO:0036192 obsolete EN1-related dorsoventral syndrome MONDO:8000032 Orphanet:611223 Orphanet:377789 obsolete malformation syndrome +MONDO:0036193 parkinsonism with polyneuropathy MONDO:0016133 Orphanet:611237 Orphanet:207018 obsolete rare hereditary metabolic disease with peripheral neuropathy +MONDO:0036193 parkinsonism with polyneuropathy MONDO:0016578 Orphanet:611237 Orphanet:2443 obsolete mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies +MONDO:0036193 parkinsonism with polyneuropathy MONDO:0017635 Orphanet:611237 Orphanet:306666 obsolete parkinsonian syndrome due to neurodegenerative disease +MONDO:0036193 parkinsonism with polyneuropathy MONDO:0017661 Orphanet:611237 Orphanet:307055 obsolete rare parkinsonian syndrome due to genetic neurodegenerative disease +MONDO:0036212 spastic paraparesis-cataracts-speech delay syndrome MONDO:0018118 Orphanet:615938 Orphanet:352306 obsolete disorder of phospholipids, sphingolipids and fatty acids biosynthesis with central nervous system predominant involvement +MONDO:0036212 spastic paraparesis-cataracts-speech delay syndrome MONDO:0019058 Orphanet:615938 Orphanet:68385 obsolete neurometabolic disease +MONDO:0036212 spastic paraparesis-cataracts-speech delay syndrome MONDO:0020228 Orphanet:615938 Orphanet:98644 obsolete cataract associated with a metabolic disease +MONDO:0036212 spastic paraparesis-cataracts-speech delay syndrome MONDO:0032013 Orphanet:615938 Orphanet:377792 obsolete clinical syndrome +MONDO:0036217 lethal pontocerebellar hypoplasia-hypotonia-respiratory insufficiency syndrome due to a point mutation MONDO:8000031 Orphanet:615983 Orphanet:557494 obsolete subtype of a disorder +MONDO:0036218 lethal pontocerebellar hypoplasia-hypotonia-respiratory insufficiency syndrome due to biallelic deletions in the ATAD3 gene cluster MONDO:8000031 Orphanet:615986 Orphanet:557494 obsolete subtype of a disorder +MONDO:0036918 punctate acrokeratoderma freckle-like pigmentation MONDO:0019271 Orphanet:99710 Orphanet:79356 obsolete acrokeratoderma +MONDO:0036918 punctate acrokeratoderma freckle-like pigmentation MONDO:0026151 Orphanet:99710 Orphanet:183441 obsolete genetic acrokeratoderma +MONDO:0037149 HSD10 disease, atypical type MONDO:8000031 Orphanet:85295 Orphanet:557494 obsolete subtype of a disorder +MONDO:0037398 pneumonia caused by pseudomonas aeruginosa infection MONDO:0015118 Orphanet:90066 Orphanet:101944 obsolete rare pulmonary disease +MONDO:0037398 pneumonia caused by pseudomonas aeruginosa infection MONDO:0032014 Orphanet:90066 Orphanet:377793 obsolete particular clinical situation in a disease or syndrome +MONDO:0037716 obsolete rare genetic deafness MONDO:0018751 Orphanet:96210 Orphanet:466084 hereditary otorhinolaryngologic disease +MONDO:0037860 obsolete rare systemic or rheumatologic disease MONDO:8000033 Orphanet:98023 Orphanet:557492 obsolete group of disorders +MONDO:0038261 obsolete genetic neurological channelopathy of the central nervous system MONDO:0019117 Orphanet:98743 Orphanet:71859 obsolete genetic nervous system disorder +MONDO:0038268 obsolete autoimmune neurological channelopathy MONDO:0019119 Orphanet:98750 Orphanet:71864 muscular channelopathy +MONDO:0042727 sacrococcygeal teratoma MONDO:8000031 Orphanet:494421 Orphanet:557494 obsolete subtype of a disorder +MONDO:0043005 obsolete genetic multiple congenital anomalies/dysmorphic syndrome MONDO:0015960 Orphanet:183533 Orphanet:183530 obsolete rare genetic developmental defect during embryogenesis +MONDO:0043008 obsolete genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability MONDO:0043005 Orphanet:330206 Orphanet:183533 obsolete genetic multiple congenital anomalies/dysmorphic syndrome +MONDO:0043009 hereditary lethal multiple congenital anomalies/dysmorphic syndrome MONDO:0043005 Orphanet:471383 Orphanet:183533 obsolete genetic multiple congenital anomalies/dysmorphic syndrome +MONDO:0043143 microphthalmia microtia fetal akinesia MONDO:0018731 Orphanet:2547 Orphanet:459787 obsolete lethal multiple congenital anomalies/dysmorphic syndrome +MONDO:0043143 microphthalmia microtia fetal akinesia MONDO:8000032 Orphanet:2547 Orphanet:377789 obsolete malformation syndrome +MONDO:0043164 palmer pagon syndrome MONDO:0017120 Orphanet:2184 Orphanet:269531 obsolete other syndrome with a central nervous system malformation as major feature +MONDO:0043164 palmer pagon syndrome MONDO:8000032 Orphanet:2184 Orphanet:377789 obsolete malformation syndrome +MONDO:0043257 pemphigus and fogo selvagem MONDO:0018745 Orphanet:636955 Orphanet:46485 obsolete superficial pemphigus +MONDO:0043317 amyopathic dermatomyositis MONDO:8000031 Orphanet:645617 Orphanet:557494 obsolete subtype of a disorder +MONDO:0043330 Mirizzi syndrome MONDO:0015116 Orphanet:521219 Orphanet:101941 obsolete rare biliary tract disease +MONDO:0043330 Mirizzi syndrome MONDO:0032013 Orphanet:521219 Orphanet:377792 obsolete clinical syndrome +MONDO:0043373 sudden sensorineural hearing loss MONDO:0019047 Orphanet:90059 Orphanet:68361 obsolete rare deafness +MONDO:0043373 sudden sensorineural hearing loss MONDO:0032014 Orphanet:90059 Orphanet:377793 obsolete particular clinical situation in a disease or syndrome +MONDO:0043459 radiation-induced disorder MONDO:0015224 Orphanet:521132 Orphanet:108999 obsolete rare intoxication +MONDO:0043797 spinal cord injury MONDO:0020009 Orphanet:90058 Orphanet:98006 obsolete rare neurologic disease +MONDO:0043797 spinal cord injury MONDO:0032014 Orphanet:90058 Orphanet:377793 obsolete particular clinical situation in a disease or syndrome +MONDO:0044067 candidiasis, invasive MONDO:0015578 Orphanet:636945 Orphanet:163591 obsolete rare mycosis +MONDO:0044300 familial adenomatous polyposis 4 MONDO:8000031 Orphanet:480536 Orphanet:557494 obsolete subtype of a disorder +MONDO:0044302 congenital heart defects, dysmorphic facial features, and intellectual developmental disorder MONDO:0035863 Orphanet:646278 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0044304 hyperphenylalaninemia due to DNAJC12 deficiency MONDO:0017756 Orphanet:508523 Orphanet:309819 obsolete disorder of pterin metabolism +MONDO:0044304 hyperphenylalaninemia due to DNAJC12 deficiency MONDO:0018329 Orphanet:508523 Orphanet:391711 obsolete persistent combined dystonia +MONDO:0044306 neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination MONDO:0015878 Orphanet:500545 Orphanet:180772 obsolete rare disease with autism +MONDO:0044306 neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination MONDO:0020225 Orphanet:500545 Orphanet:98641 obsolete syndromic cataract +MONDO:0044306 neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination MONDO:0035862 Orphanet:500545 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome +MONDO:0044319 intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies MONDO:0035863 Orphanet:505237 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0044319 intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies MONDO:8000032 Orphanet:505237 Orphanet:377789 obsolete malformation syndrome +MONDO:0044323 Rahman syndrome MONDO:0035863 Orphanet:642763 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0044323 Rahman syndrome MONDO:8000032 Orphanet:642763 Orphanet:377789 obsolete malformation syndrome MONDO:0044331 obsolete genetic transient congenital hypothyroidism MONDO:0000001 Orphanet:226316 Orphanet:377788 disease -MONDO:0044683 obsolete limbic encephalitis with neurexin-3 antibodies MONDO:0000001 Orphanet:498700 Orphanet:377788 disease +MONDO:0044331 obsolete genetic transient congenital hypothyroidism MONDO:0016556 Orphanet:226316 Orphanet:238699 transient congenital hypothyroidism due to neonatal factor +MONDO:0044332 childhood-onset benign chorea with striatal involvement MONDO:0017646 Orphanet:494541 Orphanet:306719 obsolete neurodegenerative disease with chorea +MONDO:0044355 isolated sternocostoclavicular hyperostosis MONDO:0015940 Orphanet:178311 Orphanet:182231 obsolete rare rheumatologic disease +MONDO:0044406 arthrogryposis-ectodermal dysplasia-other anomalies syndrome MONDO:8000032 Orphanet:3200 Orphanet:377789 obsolete malformation syndrome +MONDO:0044617 X-linked keloid scarring-reduced joint mobility-increased optic cup-to-disc ratio syndrome MONDO:0018609 Orphanet:482606 Orphanet:441434 obsolete syndromic hereditary optic neuropathy +MONDO:0044617 X-linked keloid scarring-reduced joint mobility-increased optic cup-to-disc ratio syndrome MONDO:0019274 Orphanet:482606 Orphanet:79359 obsolete other epidermal disorder +MONDO:0044617 X-linked keloid scarring-reduced joint mobility-increased optic cup-to-disc ratio syndrome MONDO:0019275 Orphanet:482606 Orphanet:79360 obsolete other genetic epidermal disease +MONDO:0044617 X-linked keloid scarring-reduced joint mobility-increased optic cup-to-disc ratio syndrome MONDO:8000032 Orphanet:482606 Orphanet:377789 obsolete malformation syndrome +MONDO:0044619 propylthiouracil embryofetopathy MONDO:0015323 Orphanet:485358 Orphanet:138059 obsolete teratogenic Pierre Robin syndrome +MONDO:0044619 propylthiouracil embryofetopathy MONDO:8000032 Orphanet:485358 Orphanet:377789 obsolete malformation syndrome +MONDO:0044621 16p12.1p12.3 triplication syndrome MONDO:0035863 Orphanet:485405 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0044621 16p12.1p12.3 triplication syndrome MONDO:8000032 Orphanet:485405 Orphanet:377789 obsolete malformation syndrome +MONDO:0044622 EMILIN-1-related connective tissue disease MONDO:0016134 Orphanet:485418 Orphanet:207021 obsolete rare hereditary systemic disease with peripheral neuropathy +MONDO:0044624 pediatric collagenous gastritis MONDO:0015111 Orphanet:487809 Orphanet:101936 obsolete gastroesophageal disease +MONDO:0044626 female infertility due to oocyte meiotic arrest MONDO:0018444 Orphanet:488191 Orphanet:404469 obsolete female infertility due to fertilization defect +MONDO:0044628 six2-related frontonasal dysplasia MONDO:8000032 Orphanet:488437 Orphanet:377789 obsolete malformation syndrome +MONDO:0044629 congenital amyoplasia MONDO:8000032 Orphanet:488586 Orphanet:377789 obsolete malformation syndrome +MONDO:0044632 extracranial carotid artery aneurysm MONDO:0018723 Orphanet:494424 Orphanet:458844 obsolete rare vascular malformation of major vessels +MONDO:0044632 extracranial carotid artery aneurysm MONDO:8000030 Orphanet:494424 Orphanet:377791 obsolete morphological anomaly +MONDO:0044634 retinitis pigmentosa-hearing loss-premature aging-short stature-facial dysmorphism syndrome MONDO:0015329 Orphanet:494439 Orphanet:139021 obsolete malformation syndrome with short stature +MONDO:0044634 retinitis pigmentosa-hearing loss-premature aging-short stature-facial dysmorphism syndrome MONDO:0019589 Orphanet:494439 Orphanet:90642 obsolete syndromic genetic hearing loss +MONDO:0044634 retinitis pigmentosa-hearing loss-premature aging-short stature-facial dysmorphism syndrome MONDO:0020240 Orphanet:494439 Orphanet:98661 obsolete syndromic retinitis pigmentosa +MONDO:0044634 retinitis pigmentosa-hearing loss-premature aging-short stature-facial dysmorphism syndrome MONDO:0026187 Orphanet:494439 Orphanet:183570 obsolete genetic malformation syndrome with short stature +MONDO:0044634 retinitis pigmentosa-hearing loss-premature aging-short stature-facial dysmorphism syndrome MONDO:0035863 Orphanet:494439 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0044634 retinitis pigmentosa-hearing loss-premature aging-short stature-facial dysmorphism syndrome MONDO:8000032 Orphanet:494439 Orphanet:377789 obsolete malformation syndrome +MONDO:0044635 DIAPH1-related sensorineural hearing loss-thrombocytopenia syndrome MONDO:0019589 Orphanet:494444 Orphanet:90642 obsolete syndromic genetic hearing loss +MONDO:0044636 obsolete rare hyperkinetic movement disorder MONDO:0015143 Orphanet:494457 Orphanet:102003 obsolete rare movement disorder +MONDO:0044637 infantile-onset generalized dyskinesia with orofacial involvement MONDO:0035862 Orphanet:494526 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome +MONDO:0044638 hypopharynx squamous cell carcinoma MONDO:0020035 Orphanet:494547 Orphanet:98061 obsolete rare otorhinolaryngologic tumor +MONDO:0044640 Charcot-Marie-Tooth disease type 2T MONDO:0019601 Orphanet:495274 Orphanet:91024 obsolete autosomal recessive axonal hereditary motor and sensory neuropathy +MONDO:0044641 9q33.3q34.11 microdeletion syndrome MONDO:0015652 Orphanet:495818 Orphanet:166469 obsolete chromosomal anomaly with epilepsy as a major feature +MONDO:0044641 9q33.3q34.11 microdeletion syndrome MONDO:0019285 Orphanet:495818 Orphanet:79370 obsolete syndromic nail anomaly +MONDO:0044641 9q33.3q34.11 microdeletion syndrome MONDO:0035863 Orphanet:495818 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0044641 9q33.3q34.11 microdeletion syndrome MONDO:8000032 Orphanet:495818 Orphanet:377789 obsolete malformation syndrome +MONDO:0044642 c11orf73-related autosomal recessive hypomyelinating leukodystrophy MONDO:0018609 Orphanet:495844 Orphanet:441434 obsolete syndromic hereditary optic neuropathy +MONDO:0044643 congenital labioscrotal agenesis-cerebellar malformation-corneal dystrophy-facial dysmorphism syndrome MONDO:0015620 Orphanet:495875 Orphanet:165707 obsolete syndromic urogenital tract malformation +MONDO:0044643 congenital labioscrotal agenesis-cerebellar malformation-corneal dystrophy-facial dysmorphism syndrome MONDO:0017118 Orphanet:495875 Orphanet:269523 obsolete syndrome with a cerebellar malformation as major feature +MONDO:0044643 congenital labioscrotal agenesis-cerebellar malformation-corneal dystrophy-facial dysmorphism syndrome MONDO:0020215 Orphanet:495875 Orphanet:98628 obsolete syndromic corneal dystrophy +MONDO:0044643 congenital labioscrotal agenesis-cerebellar malformation-corneal dystrophy-facial dysmorphism syndrome MONDO:0035863 Orphanet:495875 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0044643 congenital labioscrotal agenesis-cerebellar malformation-corneal dystrophy-facial dysmorphism syndrome MONDO:8000032 Orphanet:495875 Orphanet:377789 obsolete malformation syndrome +MONDO:0044644 congenital agenesis of the scrotum MONDO:0015933 Orphanet:495879 Orphanet:182121 obsolete non-syndromic urogenital tract malformation of male +MONDO:0044644 congenital agenesis of the scrotum MONDO:8000030 Orphanet:495879 Orphanet:377791 obsolete morphological anomaly +MONDO:0044646 early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome MONDO:0015918 Orphanet:496641 Orphanet:182070 obsolete rare neurodegenerative disease +MONDO:0044646 early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome MONDO:0018609 Orphanet:496641 Orphanet:441434 obsolete syndromic hereditary optic neuropathy +MONDO:0044646 early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome MONDO:0035863 Orphanet:496641 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0044646 early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome MONDO:8000032 Orphanet:496641 Orphanet:377789 obsolete malformation syndrome +MONDO:0044648 kyphoscoliosis-lateral tongue atrophy-hereditary spastic paraplegia syndrome MONDO:0015089 Orphanet:496689 Orphanet:100981 obsolete autosomal recessive complex spastic paraplegia +MONDO:0044649 omphalocele-diaphragmatic hernia-cardiovascular anomalies-radial ray defect syndrome MONDO:0015216 Orphanet:496693 Orphanet:108979 obsolete syndromic diaphragmatic or abdominal wall malformation +MONDO:0044649 omphalocele-diaphragmatic hernia-cardiovascular anomalies-radial ray defect syndrome MONDO:0015506 Orphanet:496693 Orphanet:156532 obsolete rare syndrome with cardiac malformations +MONDO:0044649 omphalocele-diaphragmatic hernia-cardiovascular anomalies-radial ray defect syndrome MONDO:0015880 Orphanet:496693 Orphanet:180779 obsolete syndromic diaphragmatic or thoracic malformation +MONDO:0044649 omphalocele-diaphragmatic hernia-cardiovascular anomalies-radial ray defect syndrome MONDO:0017432 Orphanet:496693 Orphanet:294955 obsolete syndrome with limb reduction defects +MONDO:0044649 omphalocele-diaphragmatic hernia-cardiovascular anomalies-radial ray defect syndrome MONDO:0035863 Orphanet:496693 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0044649 omphalocele-diaphragmatic hernia-cardiovascular anomalies-radial ray defect syndrome MONDO:8000032 Orphanet:496693 Orphanet:377789 obsolete malformation syndrome +MONDO:0044651 early-onset progressive encephalopathy-spastic ataxia-distal spinal muscular atrophy syndrome MONDO:0035862 Orphanet:496756 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome +MONDO:0044655 obsolete c12orf65-related combined oxidative phosphorylation defect MONDO:0018157 Orphanet:497623 Orphanet:35696 obsolete mitochondrial disorder due to a defect in mitochondrial protein synthesis +MONDO:0044655 obsolete c12orf65-related combined oxidative phosphorylation defect MONDO:0018609 Orphanet:497623 Orphanet:441434 obsolete syndromic hereditary optic neuropathy +MONDO:0044655 obsolete c12orf65-related combined oxidative phosphorylation defect MONDO:0019058 Orphanet:497623 Orphanet:68385 obsolete neurometabolic disease +MONDO:0044655 obsolete c12orf65-related combined oxidative phosphorylation defect MONDO:0035862 Orphanet:497623 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome +MONDO:0044656 epidermolytic nevus MONDO:0017414 Orphanet:497737 Orphanet:294057 obsolete rare nevus +MONDO:0044657 MME-related autosomal dominant Charcot Marie Tooth disease type 2 MONDO:0017414 Orphanet:497757 Orphanet:294057 obsolete rare nevus +MONDO:0044660 menstrual cycle-dependent periodic fever MONDO:0015860 Orphanet:498251 Orphanet:180208 obsolete anomaly of puberty or/and menstrual cycle +MONDO:0044663 aquagenic palmoplantar keratoderma MONDO:0019274 Orphanet:498359 Orphanet:79359 obsolete other epidermal disorder +MONDO:0044675 LRP5-related primary osteoporosis MONDO:0019704 Orphanet:498481 Orphanet:93446 obsolete primary bone dysplasia with decreased bone density +MONDO:0044675 LRP5-related primary osteoporosis MONDO:8000032 Orphanet:498481 Orphanet:377789 obsolete malformation syndrome +MONDO:0044688 isolated optic neuritis MONDO:0015916 Orphanet:499096 Orphanet:182064 obsolete rare neuroinflammatory or neuroimmunological disease +MONDO:0044696 early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome MONDO:0017120 Orphanet:500144 Orphanet:269531 obsolete other syndrome with a central nervous system malformation as major feature +MONDO:0044696 early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome MONDO:0019589 Orphanet:500144 Orphanet:90642 obsolete syndromic genetic hearing loss +MONDO:0044696 early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome MONDO:0035863 Orphanet:500144 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0044696 early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome MONDO:8000032 Orphanet:500144 Orphanet:377789 obsolete malformation syndrome +MONDO:0044699 SIN3A-related intellectual disability syndrome MONDO:0035863 Orphanet:500163 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0044699 SIN3A-related intellectual disability syndrome MONDO:8000032 Orphanet:500163 Orphanet:377789 obsolete malformation syndrome +MONDO:0044700 SIN3A-related intellectual disability syndrome due to a point mutation MONDO:8000031 Orphanet:500166 Orphanet:557494 obsolete subtype of a disorder +MONDO:0044701 childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder MONDO:0015918 Orphanet:500180 Orphanet:182070 obsolete rare neurodegenerative disease +MONDO:0044701 childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder MONDO:0017641 Orphanet:500180 Orphanet:306695 obsolete miscellaneous movement disorder due to neurodegenerative disease +MONDO:0044701 childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder MONDO:0017662 Orphanet:500180 Orphanet:307058 obsolete miscellaneous movement disorder due to genetic neurodegenerative disease +MONDO:0044701 childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder MONDO:0035862 Orphanet:500180 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome +MONDO:0044702 X-linked external auditory canal atresia-dilated internal auditory canal-facial dysmorphism syndrome MONDO:0015502 Orphanet:500188 Orphanet:156243 obsolete pinnae and external auditory canal anomaly +MONDO:0044702 X-linked external auditory canal atresia-dilated internal auditory canal-facial dysmorphism syndrome MONDO:0019589 Orphanet:500188 Orphanet:90642 obsolete syndromic genetic hearing loss +MONDO:0044702 X-linked external auditory canal atresia-dilated internal auditory canal-facial dysmorphism syndrome MONDO:8000032 Orphanet:500188 Orphanet:377789 obsolete malformation syndrome +MONDO:0044704 oropharynx squamous cell carcinoma MONDO:0020035 Orphanet:500478 Orphanet:98061 obsolete rare otorhinolaryngologic tumor +MONDO:0044705 paranasal sinus squamous cell carcinoma MONDO:0020035 Orphanet:500464 Orphanet:98061 obsolete rare otorhinolaryngologic tumor +MONDO:0044709 cochleovestibular dysplasia MONDO:8000030 Orphanet:502305 Orphanet:377791 obsolete morphological anomaly +MONDO:0044710 lip and oral cavity squamous cell carcinoma MONDO:0020035 Orphanet:502369 Orphanet:98061 obsolete rare otorhinolaryngologic tumor +MONDO:0044714 mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome MONDO:0016803 Orphanet:502423 Orphanet:254837 obsolete unspecified inborn mitochondrial disorder +MONDO:0044714 mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome MONDO:0035862 Orphanet:502423 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome +MONDO:0044715 metopic ridging-ptosis-facial dysmorphism syndrome MONDO:0020169 Orphanet:502430 Orphanet:98578 obsolete rare disorder with ptosis +MONDO:0044715 metopic ridging-ptosis-facial dysmorphism syndrome MONDO:0035863 Orphanet:502430 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0044715 metopic ridging-ptosis-facial dysmorphism syndrome MONDO:8000032 Orphanet:502430 Orphanet:377789 obsolete malformation syndrome +MONDO:0044717 4q25 proximal deletion syndrome MONDO:0035863 Orphanet:502437 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0044717 4q25 proximal deletion syndrome MONDO:8000032 Orphanet:502437 Orphanet:377789 obsolete malformation syndrome +MONDO:0044718 alkaline ceramidase 3 deficiency MONDO:0019058 Orphanet:502444 Orphanet:68385 obsolete neurometabolic disease +MONDO:0044720 cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome MONDO:0016136 Orphanet:504476 Orphanet:207028 obsolete cerebellar ataxia with peripheral neuropathy +MONDO:0044720 cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome MONDO:0020017 Orphanet:504476 Orphanet:98036 obsolete rare otorhinolaryngologic disease +MONDO:0044723 3-methylglutaconic aciduria type 8 MONDO:0019058 Orphanet:505208 Orphanet:68385 obsolete neurometabolic disease +MONDO:0044723 3-methylglutaconic aciduria type 8 MONDO:0035862 Orphanet:505208 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome +MONDO:0044724 3-methylglutaconic aciduria type 9 MONDO:0016399 Orphanet:505216 Orphanet:225689 obsolete amino acid or protein metabolism disease with epilepsy +MONDO:0044724 3-methylglutaconic aciduria type 9 MONDO:0019058 Orphanet:505216 Orphanet:68385 obsolete neurometabolic disease +MONDO:0044724 3-methylglutaconic aciduria type 9 MONDO:0035862 Orphanet:505216 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome +MONDO:0044725 combined immunodeficiency due to GINS1 deficiency MONDO:0015707 Orphanet:505227 Orphanet:169346 obsolete DNA repair defect other than combined T-cell and B-cell immunodeficiencies +MONDO:0044726 psychomotor regression-oculomotor apraxia-movement disorder-nephropathy syndrome MONDO:0015918 Orphanet:505242 Orphanet:182070 obsolete rare neurodegenerative disease +MONDO:0044726 psychomotor regression-oculomotor apraxia-movement disorder-nephropathy syndrome MONDO:0019744 Orphanet:505242 Orphanet:93603 obsolete rare renal tubular disease +MONDO:0044726 psychomotor regression-oculomotor apraxia-movement disorder-nephropathy syndrome MONDO:0020258 Orphanet:505242 Orphanet:98688 obsolete oculomotor apraxia or related oculomotor disease +MONDO:0044737 autosomal recessive complex spastic paraplegia due to kennedy pathway dysfunction MONDO:0015089 Orphanet:506353 Orphanet:100981 obsolete autosomal recessive complex spastic paraplegia +MONDO:0044737 autosomal recessive complex spastic paraplegia due to kennedy pathway dysfunction MONDO:0018118 Orphanet:506353 Orphanet:352306 obsolete disorder of phospholipids, sphingolipids and fatty acids biosynthesis with central nervous system predominant involvement +MONDO:0044737 autosomal recessive complex spastic paraplegia due to kennedy pathway dysfunction MONDO:0035862 Orphanet:506353 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome +MONDO:0044738 Gabriele de Vries syndrome MONDO:0035863 Orphanet:506358 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0044738 Gabriele de Vries syndrome MONDO:8000032 Orphanet:506358 Orphanet:377789 obsolete malformation syndrome +MONDO:0044739 Stevens-Johnson syndrome/toxic epidermal necrolysis overlap syndrome MONDO:8000031 Orphanet:506784 Orphanet:557494 obsolete subtype of a disorder +MONDO:0044740 salivary gland squamous cell carcinoma MONDO:8000031 Orphanet:500481 Orphanet:557494 obsolete subtype of a disorder +MONDO:0044792 large congenital melanocytic nevus MONDO:0017414 Orphanet:626 Orphanet:294057 obsolete rare nevus +MONDO:0044807 inherited dystonia MONDO:0034641 Orphanet:391799 Orphanet:496916 obsolete rare genetic hyperkinetic movement disorder +MONDO:0054559 congenital disorder of glycosylation, type IIq MONDO:0018284 Orphanet:435934 Orphanet:371047 obsolete congenital disorder of glycosylation with neurological involvement +MONDO:0054636 Skraban-Deardorff syndrome MONDO:0035863 Orphanet:513456 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0054669 pontocerebellar hypoplasia, type 11 MONDO:0035863 Orphanet:611247 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0054669 pontocerebellar hypoplasia, type 11 MONDO:8000032 Orphanet:611247 Orphanet:377789 obsolete malformation syndrome +MONDO:0054741 combined oxidative phosphorylation deficiency 34 MONDO:0018157 Orphanet:457223 Orphanet:35696 obsolete mitochondrial disorder due to a defect in mitochondrial protein synthesis +MONDO:0054741 combined oxidative phosphorylation deficiency 34 MONDO:0019589 Orphanet:457223 Orphanet:90642 obsolete syndromic genetic hearing loss +MONDO:0054785 multiple mitochondrial dysfunctions syndrome 6 MONDO:0015918 Orphanet:569290 Orphanet:182070 obsolete rare neurodegenerative disease +MONDO:0054813 Ehlers-Danlos syndrome, classic-like, 2 MONDO:0019704 Orphanet:536532 Orphanet:93446 obsolete primary bone dysplasia with decreased bone density +MONDO:0054865 encephalopathy due to mitochondrial and peroxisomal fission defect MONDO:0016133 Orphanet:527276 Orphanet:207018 obsolete rare hereditary metabolic disease with peripheral neuropathy +MONDO:0054865 encephalopathy due to mitochondrial and peroxisomal fission defect MONDO:0016578 Orphanet:527276 Orphanet:2443 obsolete mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies +MONDO:0054865 encephalopathy due to mitochondrial and peroxisomal fission defect MONDO:0019058 Orphanet:527276 Orphanet:68385 obsolete neurometabolic disease +MONDO:0054865 encephalopathy due to mitochondrial and peroxisomal fission defect MONDO:0035862 Orphanet:527276 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome +MONDO:0060490 neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies MONDO:0017120 Orphanet:544469 Orphanet:269531 obsolete other syndrome with a central nervous system malformation as major feature +MONDO:0060490 neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies MONDO:0035863 Orphanet:544469 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0060490 neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies MONDO:8000032 Orphanet:544469 Orphanet:377789 obsolete malformation syndrome +MONDO:0060502 neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies MONDO:0018609 Orphanet:521426 Orphanet:441434 obsolete syndromic hereditary optic neuropathy +MONDO:0060502 neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies MONDO:0035863 Orphanet:521426 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0060502 neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies MONDO:8000032 Orphanet:521426 Orphanet:377789 obsolete malformation syndrome +MONDO:0060532 congenital heart defects and skeletal malformations syndrome MONDO:0043008 Orphanet:643503 Orphanet:330206 obsolete genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability +MONDO:0060533 microcephaly, short stature, and limb abnormalities MONDO:8000031 Orphanet:572773 Orphanet:557494 obsolete subtype of a disorder +MONDO:0060556 joint laxity, short stature, and myopia MONDO:0015332 Orphanet:527450 Orphanet:139030 obsolete rare developmental defect with connective tissue involvement +MONDO:0060556 joint laxity, short stature, and myopia MONDO:0800086 Orphanet:527450 Orphanet:93441 obsolete primary bone dysplasia with multiple joint dislocations +MONDO:0060556 joint laxity, short stature, and myopia MONDO:8000032 Orphanet:527450 Orphanet:377789 obsolete malformation syndrome +MONDO:0060564 HELIX syndrome MONDO:0019744 Orphanet:528105 Orphanet:93603 obsolete rare renal tubular disease +MONDO:0060564 HELIX syndrome MONDO:0020194 Orphanet:528105 Orphanet:98604 obsolete congenital alacrima +MONDO:0060568 Pilarowski-Bjornsson syndrome MONDO:0035863 Orphanet:529965 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0060568 Pilarowski-Bjornsson syndrome MONDO:8000032 Orphanet:529965 Orphanet:377789 obsolete malformation syndrome +MONDO:0060578 neurodevelopmental disorder, mitochondrial, with abnormal movements and lactic acidosis, with or without seizures MONDO:0018157 Orphanet:572798 Orphanet:35696 obsolete mitochondrial disorder due to a defect in mitochondrial protein synthesis +MONDO:0060578 neurodevelopmental disorder, mitochondrial, with abnormal movements and lactic acidosis, with or without seizures MONDO:0019058 Orphanet:572798 Orphanet:68385 obsolete neurometabolic disease +MONDO:0060578 neurodevelopmental disorder, mitochondrial, with abnormal movements and lactic acidosis, with or without seizures MONDO:0035862 Orphanet:572798 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome +MONDO:0060582 auditory neuropathy-optic atrophy syndrome MONDO:0017718 Orphanet:542585 Orphanet:309136 obsolete mitochondrial disorder due to a defect in assembly or maturation of the respiratory chain complexes +MONDO:0060582 auditory neuropathy-optic atrophy syndrome MONDO:0018609 Orphanet:542585 Orphanet:441434 obsolete syndromic hereditary optic neuropathy +MONDO:0060582 auditory neuropathy-optic atrophy syndrome MONDO:0019058 Orphanet:542585 Orphanet:68385 obsolete neurometabolic disease +MONDO:0060582 auditory neuropathy-optic atrophy syndrome MONDO:0019589 Orphanet:542585 Orphanet:90642 obsolete syndromic genetic hearing loss +MONDO:0060596 neurodevelopmental disorder with dysmorphic facies and distal limb anomalies MONDO:0015982 Orphanet:528084 Orphanet:183757 obsolete rare genetic intellectual disability +MONDO:0060596 neurodevelopmental disorder with dysmorphic facies and distal limb anomalies MONDO:0019491 Orphanet:528084 Orphanet:87277 obsolete rare intellectual disability +MONDO:0060622 neurodevelopmental disorder with severe motor impairment and absent language MONDO:0035862 Orphanet:647788 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome +MONDO:0060627 glycosylphosphatidylinositol biosynthesis defect 15 MONDO:0017118 Orphanet:529665 Orphanet:269523 obsolete syndrome with a cerebellar malformation as major feature +MONDO:0060627 glycosylphosphatidylinositol biosynthesis defect 15 MONDO:0035863 Orphanet:529665 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0060627 glycosylphosphatidylinositol biosynthesis defect 15 MONDO:8000032 Orphanet:529665 Orphanet:377789 obsolete malformation syndrome +MONDO:0060631 Alkuraya-Kucinskas syndrome MONDO:0017120 Orphanet:610569 Orphanet:269531 obsolete other syndrome with a central nervous system malformation as major feature +MONDO:0060631 Alkuraya-Kucinskas syndrome MONDO:0035863 Orphanet:610569 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0060707 Ververi-Brady syndrome MONDO:0015329 Orphanet:580940 Orphanet:139021 obsolete malformation syndrome with short stature +MONDO:0060707 Ververi-Brady syndrome MONDO:0019697 Orphanet:580940 Orphanet:93438 obsolete mesomelic and rhizo-mesomelic dysplasia +MONDO:0060707 Ververi-Brady syndrome MONDO:0026187 Orphanet:580940 Orphanet:183570 obsolete genetic malformation syndrome with short stature +MONDO:0060707 Ververi-Brady syndrome MONDO:0035863 Orphanet:580940 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0060707 Ververi-Brady syndrome MONDO:8000032 Orphanet:580940 Orphanet:377789 obsolete malformation syndrome +MONDO:0060759 neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures MONDO:0018265 Orphanet:597623 Orphanet:370106 obsolete rare disorder with dystonia and other neurologic or systemic manifestation +MONDO:0100062 developmental and epileptic encephalopathy MONDO:0015921 Orphanet:1934 Orphanet:182079 obsolete ARX-related epileptic encephalopathy +MONDO:0100062 developmental and epileptic encephalopathy MONDO:0015922 Orphanet:1934 Orphanet:182083 obsolete channelopathy with epilepsy +MONDO:0100062 developmental and epileptic encephalopathy MONDO:0032013 Orphanet:1934 Orphanet:377792 obsolete clinical syndrome +MONDO:0100062 developmental and epileptic encephalopathy MONDO:0035862 Orphanet:1934 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome +MONDO:0100101 fetal akinesia deformation sequence 1 MONDO:0015221 Orphanet:994 Orphanet:108993 obsolete non-syndromic respiratory or mediastinal malformation +MONDO:0100101 fetal akinesia deformation sequence 1 MONDO:0015222 Orphanet:994 Orphanet:108995 obsolete syndromic respiratory or mediastinal malformation +MONDO:0100101 fetal akinesia deformation sequence 1 MONDO:0043008 Orphanet:994 Orphanet:330206 obsolete genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability +MONDO:0100101 fetal akinesia deformation sequence 1 MONDO:8000032 Orphanet:994 Orphanet:377789 obsolete malformation syndrome +MONDO:0100115 acute flaccid myelitis MONDO:0015141 Orphanet:623801 Orphanet:102000 obsolete disorder of medulla oblongata +MONDO:0100116 Middle East respiratory syndrome MONDO:0015118 Orphanet:576074 Orphanet:101944 obsolete rare pulmonary disease +MONDO:0100116 Middle East respiratory syndrome MONDO:0015576 Orphanet:576074 Orphanet:163585 obsolete rare viral disease +MONDO:0100130 adult acute respiratory distress syndrome MONDO:0017027 Orphanet:70578 Orphanet:264740 obsolete primary interstitial lung disease specific to adulthood +MONDO:0100133 mitochondrial complex I deficiency MONDO:0016402 Orphanet:2609 Orphanet:225700 obsolete mitochondrial disease with epilepsy +MONDO:0100133 mitochondrial complex I deficiency MONDO:0016805 Orphanet:2609 Orphanet:254846 obsolete isolated oxidative phosphorylation complex disorder +MONDO:0100133 mitochondrial complex I deficiency MONDO:0019058 Orphanet:2609 Orphanet:68385 obsolete neurometabolic disease +MONDO:0100133 mitochondrial complex I deficiency MONDO:0035862 Orphanet:2609 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome +MONDO:0100147 SATB2 associated disorder MONDO:0015336 Orphanet:576278 Orphanet:139042 obsolete malformation syndrome with odontal and/or periodontal component +MONDO:0100147 SATB2 associated disorder MONDO:0015501 Orphanet:576278 Orphanet:156237 obsolete syndrome or malformation associated with head and neck malformations +MONDO:0100147 SATB2 associated disorder MONDO:0019183 Orphanet:576278 Orphanet:77830 obsolete inherited odontologic disease +MONDO:0100147 SATB2 associated disorder MONDO:0035863 Orphanet:576278 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0100147 SATB2 associated disorder MONDO:8000032 Orphanet:576278 Orphanet:377789 obsolete malformation syndrome +MONDO:0100164 permanent neonatal diabetes mellitus MONDO:0035862 Orphanet:99885 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome +MONDO:0100186 GTP cyclohydrolase I deficiency with hyperphenylalaninemia MONDO:8000031 Orphanet:2102 Orphanet:557494 obsolete subtype of a disorder MONDO:0100189 obsolete apolipoprotein A-I deficiency MONDO:0000001 Orphanet:425 Orphanet:377788 disease +MONDO:0100189 obsolete apolipoprotein A-I deficiency MONDO:0017773 Orphanet:425 Orphanet:31153 hypoalphalipoproteinemia +MONDO:0100211 growth hormone insensitivity with immune dysregulation 1, autosomal recessive MONDO:0018035 Orphanet:220465 Orphanet:331217 obsolete syndrome with combined immunodeficiency +MONDO:0100212 IFAP syndrome MONDO:0015331 Orphanet:2273 Orphanet:139027 obsolete malformation syndrome with skin/mucosae involvement +MONDO:0100212 IFAP syndrome MONDO:0021034 Orphanet:2273 Orphanet:481771 obsolete hereditary alopecia +MONDO:0100215 Rajab interstitial lung disease with brain calcifications 1 MONDO:0019117 Orphanet:178506 Orphanet:71859 obsolete genetic nervous system disorder +MONDO:0100215 Rajab interstitial lung disease with brain calcifications 1 MONDO:0020009 Orphanet:178506 Orphanet:98006 obsolete rare neurologic disease +MONDO:0100229 obsolete Heimler syndrome MONDO:0015336 Orphanet:3220 Orphanet:139042 obsolete malformation syndrome with odontal and/or periodontal component +MONDO:0100229 obsolete Heimler syndrome MONDO:0019287 Orphanet:3220 Orphanet:79373 ectodermal dysplasia syndrome +MONDO:0100229 obsolete Heimler syndrome MONDO:0019589 Orphanet:3220 Orphanet:90642 obsolete syndromic genetic hearing loss +MONDO:0100229 obsolete Heimler syndrome MONDO:0026190 Orphanet:3220 Orphanet:183580 obsolete genetic malformation syndrome with odontal and/or periodontal component +MONDO:0100229 obsolete Heimler syndrome MONDO:8000032 Orphanet:3220 Orphanet:377789 obsolete malformation syndrome +MONDO:0100234 paroxysmal familial ventricular fibrillation MONDO:0015110 Orphanet:228140 Orphanet:101934 obsolete genetic cardiac rhythm disease +MONDO:0100244 paroxysmal nocturnal hemoglobinuria MONDO:0015549 Orphanet:447 Orphanet:158300 obsolete rare genetic hematologic disease +MONDO:0100244 paroxysmal nocturnal hemoglobinuria MONDO:0015911 Orphanet:447 Orphanet:182047 obsolete rare acquired hemolytic anemia +MONDO:0100249 46,XX testicular disorder of sex development MONDO:0017961 Orphanet:393 Orphanet:325055 obsolete 46,XX disorder of gonadal development +MONDO:0100249 46,XX testicular disorder of sex development MONDO:0020090 Orphanet:393 Orphanet:98313 obsolete male infertility due to gonadal dysgenesis +MONDO:0100249 46,XX testicular disorder of sex development MONDO:8000032 Orphanet:393 Orphanet:377789 obsolete malformation syndrome +MONDO:0100251 familial hyperphosphatemic tumoral calcinosis/hyperphosphatemic hyperostosis syndrome MONDO:0017743 Orphanet:306661 Orphanet:309458 obsolete disorder of O-N-acetylgalactosaminylglycan synthesis +MONDO:0100251 familial hyperphosphatemic tumoral calcinosis/hyperphosphatemic hyperostosis syndrome MONDO:0018293 Orphanet:306661 Orphanet:371200 obsolete congenital disorder of glycosylation with skin involvement +MONDO:0100251 familial hyperphosphatemic tumoral calcinosis/hyperphosphatemic hyperostosis syndrome MONDO:8000031 Orphanet:306661 Orphanet:557494 obsolete subtype of a disorder +MONDO:0100253 Roberts-SC phocomelia syndrome MONDO:0015335 Orphanet:3103 Orphanet:139039 obsolete Mendelian syndromes with cleft lip/palate +MONDO:0100253 Roberts-SC phocomelia syndrome MONDO:0017432 Orphanet:3103 Orphanet:294955 obsolete syndrome with limb reduction defects +MONDO:0100253 Roberts-SC phocomelia syndrome MONDO:0020232 Orphanet:3103 Orphanet:98648 obsolete musculoskeletal disease with cataract +MONDO:0100253 Roberts-SC phocomelia syndrome MONDO:0035863 Orphanet:3103 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0100253 Roberts-SC phocomelia syndrome MONDO:8000032 Orphanet:3103 Orphanet:377789 obsolete malformation syndrome +MONDO:0100255 adenosine kinase deficiency MONDO:0019058 Orphanet:289290 Orphanet:68385 obsolete neurometabolic disease +MONDO:0100280 Waldenstrom macroglobulinemia MONDO:0016138 Orphanet:33226 Orphanet:207046 obsolete malignant lymphoma with peripheral neuropathy +MONDO:0100289 Goldmann-Favre syndrome MONDO:0034943 Orphanet:53540 Orphanet:519304 obsolete isolated vitreoretinopathy +MONDO:0100294 mitochondrial complex II deficiency, nuclear type 1 MONDO:0016805 Orphanet:3208 Orphanet:254846 obsolete isolated oxidative phosphorylation complex disorder +MONDO:0100294 mitochondrial complex II deficiency, nuclear type 1 MONDO:0035862 Orphanet:3208 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome +MONDO:0100309 hereditary ataxia MONDO:0019117 Orphanet:183518 Orphanet:71859 obsolete genetic nervous system disorder +MONDO:0100325 odontochondrodysplasia 1 MONDO:0015877 Orphanet:166272 Orphanet:180766 obsolete malformative syndrome with dentinogenesis imperfecta +MONDO:0100325 odontochondrodysplasia 1 MONDO:0026190 Orphanet:166272 Orphanet:183580 obsolete genetic malformation syndrome with odontal and/or periodontal component +MONDO:0100325 odontochondrodysplasia 1 MONDO:8000032 Orphanet:166272 Orphanet:377789 obsolete malformation syndrome +MONDO:0100326 Glanzmann thrombasthenia MONDO:0017142 Orphanet:849 Orphanet:275736 obsolete hemorrhagic disorder due to a qualitative platelet defect +MONDO:0100340 Friedreich ataxia 1 MONDO:0016136 Orphanet:95 Orphanet:207028 obsolete cerebellar ataxia with peripheral neuropathy +MONDO:0100340 Friedreich ataxia 1 MONDO:0019058 Orphanet:95 Orphanet:68385 obsolete neurometabolic disease +MONDO:0100340 Friedreich ataxia 1 MONDO:0026989 Orphanet:95 Orphanet:217595 obsolete syndrome associated with hypertrophic cardiomyopathy +MONDO:0100340 Friedreich ataxia 1 MONDO:0034961 Orphanet:95 Orphanet:519341 obsolete rare brainstem or cerebellar disorder with ophthalmic involvement as a major feature +MONDO:0100344 Bartter disease type 1 MONDO:8000031 Orphanet:620217 Orphanet:557494 obsolete subtype of a disorder +MONDO:0100347 carcinoid syndrome MONDO:0032013 Orphanet:100093 Orphanet:377792 obsolete clinical syndrome +MONDO:0100349 COACH syndrome MONDO:0015114 Orphanet:1454 Orphanet:101939 obsolete rare parenchymal liver disease +MONDO:0100349 COACH syndrome MONDO:0015508 Orphanet:1454 Orphanet:156604 obsolete hereditary parenchymatous liver disease +MONDO:0100349 COACH syndrome MONDO:0017118 Orphanet:1454 Orphanet:269523 obsolete syndrome with a cerebellar malformation as major feature +MONDO:0100349 COACH syndrome MONDO:0022409 Orphanet:1454 Orphanet:156162 obsolete nephropathy-associated ciliopathy +MONDO:0100349 COACH syndrome MONDO:0035863 Orphanet:1454 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0100354 megacystis-microcolon-intestinal hypoperistalsis syndrome 1 MONDO:0015184 Orphanet:2241 Orphanet:104009 obsolete rare disease involving intestinal motility +MONDO:0100354 megacystis-microcolon-intestinal hypoperistalsis syndrome 1 MONDO:0019721 Orphanet:2241 Orphanet:93547 obsolete syndromic renal or urinary tract malformation +MONDO:0100354 megacystis-microcolon-intestinal hypoperistalsis syndrome 1 MONDO:8000032 Orphanet:2241 Orphanet:377789 obsolete malformation syndrome +MONDO:0100367 port-wine nevi-mega cisterna magna-hydrocephalus syndrome MONDO:0017118 Orphanet:2703 Orphanet:269523 obsolete syndrome with a cerebellar malformation as major feature +MONDO:0100367 port-wine nevi-mega cisterna magna-hydrocephalus syndrome MONDO:0018719 Orphanet:2703 Orphanet:458830 obsolete obsolete rare capillary malformation with associated anomalies +MONDO:0100367 port-wine nevi-mega cisterna magna-hydrocephalus syndrome MONDO:0043008 Orphanet:2703 Orphanet:330206 obsolete genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability +MONDO:0100367 port-wine nevi-mega cisterna magna-hydrocephalus syndrome MONDO:8000032 Orphanet:2703 Orphanet:377789 obsolete malformation syndrome +MONDO:0100429 intrahepatic cholestasis of pregnancy MONDO:0015115 Orphanet:69665 Orphanet:101940 obsolete rare genetic metabolic liver disease +MONDO:0100429 intrahepatic cholestasis of pregnancy MONDO:0015582 Orphanet:69665 Orphanet:163637 obsolete rare disorder related with pregnancy, childbirth and puerperium +MONDO:0100450 CAPN5-related vitreoretinopathy MONDO:0034943 Orphanet:329211 Orphanet:519304 obsolete isolated vitreoretinopathy +MONDO:0100462 short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans MONDO:0018239 Orphanet:251262 Orphanet:364817 obsolete aggrecan-related bone disorder +MONDO:0100480 autoimmune primary adrenal insufficiency MONDO:0015130 Orphanet:85138 Orphanet:101963 obsolete acquired chronic primary adrenal insufficiency +MONDO:0100508 salivary gland type cancer of the breast MONDO:0015870 Orphanet:213557 Orphanet:180257 obsolete rare malignant breast tumor +MONDO:0100512 mitochondrial DNA depletion syndrome, hepatocerebral form MONDO:0015115 Orphanet:254871 Orphanet:101940 obsolete rare genetic metabolic liver disease +MONDO:0100527 dysplastic cortical hyperostosis, Kozlowski-Tsuruta type MONDO:8000031 Orphanet:2204 Orphanet:557494 obsolete subtype of a disorder +MONDO:0100528 Hao-Fountain syndrome due to 16p13.2 microdeletion MONDO:8000031 Orphanet:500055 Orphanet:557494 obsolete subtype of a disorder +MONDO:0700220 disease related to transplantation MONDO:0032014 Orphanet:306644 Orphanet:377793 obsolete particular clinical situation in a disease or syndrome +MONDO:0700220 disease related to transplantation MONDO:0035426 Orphanet:306644 Orphanet:565779 obsolete rare disorder potentially indicated for transplant or complication after transplantation +MONDO:0800025 Teebi hypertelorism syndrome 1 MONDO:0043008 Orphanet:1519 Orphanet:330206 obsolete genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability +MONDO:0800025 Teebi hypertelorism syndrome 1 MONDO:8000032 Orphanet:1519 Orphanet:377789 obsolete malformation syndrome +MONDO:0800026 central hypoventilation syndrome, congenital, 1, with or without Hirschsprung disease MONDO:0015118 Orphanet:661 Orphanet:101944 obsolete rare pulmonary disease +MONDO:0800026 central hypoventilation syndrome, congenital, 1, with or without Hirschsprung disease MONDO:0015510 Orphanet:661 Orphanet:156610 obsolete rare genetic respiratory disease +MONDO:0800026 central hypoventilation syndrome, congenital, 1, with or without Hirschsprung disease MONDO:0018497 Orphanet:661 Orphanet:423662 obsolete rare autonomic nervous system disorder +MONDO:0800026 central hypoventilation syndrome, congenital, 1, with or without Hirschsprung disease MONDO:0018557 Orphanet:661 Orphanet:434786 obsolete rare genetic autonomic nervous system disorder +MONDO:0800027 leukoencephalopathy, diffuse hereditary, with spheroids 1 MONDO:0020136 Orphanet:313808 Orphanet:98534 obsolete neurodegenerative disease with dementia +MONDO:0800027 leukoencephalopathy, diffuse hereditary, with spheroids 1 MONDO:0021037 Orphanet:313808 Orphanet:276058 obsolete genetic neurodegenerative disease with dementia +MONDO:0800028 dyskinesia with orofacial involvement, autosomal dominant MONDO:0017657 Orphanet:324588 Orphanet:306768 obsolete rare paroxysmal movement disorder +MONDO:0800030 gastrointestinal defects and immunodeficiency syndrome 1 MONDO:0015212 Orphanet:436252 Orphanet:108969 obsolete syndromic intestinal malformation +MONDO:0800030 gastrointestinal defects and immunodeficiency syndrome 1 MONDO:0018035 Orphanet:436252 Orphanet:331217 obsolete syndrome with combined immunodeficiency +MONDO:0800043 Stüve-Wiedemann syndrome 1 MONDO:8000032 Orphanet:3206 Orphanet:377789 obsolete malformation syndrome +MONDO:0800044 congenital disorder of deglycosylation 1 MONDO:0015949 Orphanet:404454 Orphanet:183484 obsolete rare genetic subcutaneous tissue disorder +MONDO:0800044 congenital disorder of deglycosylation 1 MONDO:0019602 Orphanet:404454 Orphanet:91088 obsolete other inborn metabolic disease +MONDO:0800044 congenital disorder of deglycosylation 1 MONDO:0020194 Orphanet:404454 Orphanet:98604 obsolete congenital alacrima +MONDO:0800044 congenital disorder of deglycosylation 1 MONDO:0029102 Orphanet:404454 Orphanet:281244 obsolete autosomal ichthyosis syndrome with other associated signs +MONDO:0800044 congenital disorder of deglycosylation 1 MONDO:0035862 Orphanet:404454 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome +MONDO:0800045 autoinflammatory syndrome, familial, Behcet-like 1 MONDO:0017957 Orphanet:476102 Orphanet:324936 obsolete unclassified autoinflammatory syndrome +MONDO:0800046 thyroid hormone metabolism, abnormal 1 MONDO:0035689 Orphanet:171706 Orphanet:596426 obsolete syndrome of reduced sensitivity to thyroid hormone +MONDO:0800084 obsolete primary bone dysplasia with increased bone density MONDO:0018230 Orphanet:93444 Orphanet:364526 skeletal dysplasia +MONDO:0800085 obsolete dysostosis with predominant craniofacial involvement MONDO:0018234 Orphanet:93453 Orphanet:364559 dysostosis +MONDO:0800085 obsolete dysostosis with predominant craniofacial involvement MONDO:0018454 Orphanet:93453 Orphanet:404568 obsolete dysostosis of genetic origin +MONDO:0800086 obsolete primary bone dysplasia with multiple joint dislocations MONDO:0018230 Orphanet:93441 Orphanet:364526 skeletal dysplasia +MONDO:0800087 obsolete type 11 collagen-related bone disorder MONDO:0031799 Orphanet:93422 Orphanet:364803 obsolete rare bone disease related to a common gene or pathway defect +MONDO:0800088 lysosomal storage disease with skeletal involvement MONDO:0015958 Orphanet:93448 Orphanet:183524 obsolete rare genetic bone disease +MONDO:0800088 lysosomal storage disease with skeletal involvement MONDO:0019684 Orphanet:93448 Orphanet:93419 obsolete rare bone disease +MONDO:0800089 obsolete primary bone dysplasia with disorganized development of skeletal components MONDO:0018230 Orphanet:93450 Orphanet:364526 skeletal dysplasia +MONDO:0800090 obsolete ectrodactyly with and without other manifestations MONDO:0018235 Orphanet:498477 Orphanet:364568 obsolete dysostosis with limb anomaly as a major feature +MONDO:0800090 obsolete ectrodactyly with and without other manifestations MONDO:0018455 Orphanet:498477 Orphanet:404571 obsolete dysostosis of genetic origin with limb anomaly as a major feature +MONDO:0800091 obsolete overgrowth or tall stature syndrome with skeletal involvement MONDO:0018230 Orphanet:498448 Orphanet:364526 skeletal dysplasia +MONDO:0800092 obsolete hereditary inflammatory or rheumatoid-like osteoarthropathy MONDO:0018230 Orphanet:498445 Orphanet:364526 skeletal dysplasia +MONDO:0800093 obsolete dysostosis with brachydactyly without extraskeletal manifestations MONDO:0019066 Orphanet:498451 Orphanet:69028 obsolete syndrome with brachydactyly +MONDO:0800094 obsolete dysostosis with brachydactyly with extraskeletal manifestations MONDO:0019066 Orphanet:498454 Orphanet:69028 obsolete syndrome with brachydactyly +MONDO:0800095 obsolete syndrome with synostosis or other joint formation defect MONDO:0015226 Orphanet:93459 Orphanet:109009 obsolete syndrome with limb malformations as a major feature +MONDO:0800095 obsolete syndrome with synostosis or other joint formation defect MONDO:0018235 Orphanet:93459 Orphanet:364568 obsolete dysostosis with limb anomaly as a major feature +MONDO:0800095 obsolete syndrome with synostosis or other joint formation defect MONDO:0018455 Orphanet:93459 Orphanet:404571 obsolete dysostosis of genetic origin with limb anomaly as a major feature +MONDO:0800167 Knobloch syndrome 1 MONDO:0034953 Orphanet:1571 Orphanet:519325 obsolete syndromic inherited retinal disorder +MONDO:0800167 Knobloch syndrome 1 MONDO:0034954 Orphanet:1571 Orphanet:519327 obsolete syndromic vitreoretinopathy +MONDO:0800167 Knobloch syndrome 1 MONDO:0035862 Orphanet:1571 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome +MONDO:0800167 Knobloch syndrome 1 MONDO:8000032 Orphanet:1571 Orphanet:377789 obsolete malformation syndrome +MONDO:0800175 cardiogenic shock MONDO:0019996 Orphanet:97292 Orphanet:97929 obsolete rare cardiac disease +MONDO:0800175 cardiogenic shock MONDO:0032014 Orphanet:97292 Orphanet:377793 obsolete particular clinical situation in a disease or syndrome +MONDO:0800436 craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development 1 MONDO:0019711 Orphanet:1394 Orphanet:93454 obsolete dysostosis with predominant vertebral and costal involvement +MONDO:0800436 craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development 1 MONDO:0035863 Orphanet:1394 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0800436 craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development 1 MONDO:8000032 Orphanet:1394 Orphanet:377789 obsolete malformation syndrome +MONDO:0800438 developmental delay with short stature, dysmorphic facial features, and sparse hair 1 MONDO:0015329 Orphanet:459061 Orphanet:139021 obsolete malformation syndrome with short stature +MONDO:0800438 developmental delay with short stature, dysmorphic facial features, and sparse hair 1 MONDO:0026187 Orphanet:459061 Orphanet:183570 obsolete genetic malformation syndrome with short stature +MONDO:0800438 developmental delay with short stature, dysmorphic facial features, and sparse hair 1 MONDO:0035863 Orphanet:459061 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0800438 developmental delay with short stature, dysmorphic facial features, and sparse hair 1 MONDO:0800085 Orphanet:459061 Orphanet:93453 obsolete dysostosis with predominant craniofacial involvement +MONDO:0800438 developmental delay with short stature, dysmorphic facial features, and sparse hair 1 MONDO:8000032 Orphanet:459061 Orphanet:377789 obsolete malformation syndrome +MONDO:0800445 Birt-Hogg-Dube syndrome 1 MONDO:0015510 Orphanet:122 Orphanet:156610 obsolete rare genetic respiratory disease +MONDO:0800445 Birt-Hogg-Dube syndrome 1 MONDO:0015950 Orphanet:122 Orphanet:183487 obsolete inherited skin tumor +MONDO:0800445 Birt-Hogg-Dube syndrome 1 MONDO:0017027 Orphanet:122 Orphanet:264740 obsolete primary interstitial lung disease specific to adulthood +MONDO:0800445 Birt-Hogg-Dube syndrome 1 MONDO:0017891 Orphanet:122 Orphanet:319328 obsolete inherited renal cancer-predisposing syndrome +MONDO:0800445 Birt-Hogg-Dube syndrome 1 MONDO:0019300 Orphanet:122 Orphanet:79386 obsolete rare skin tumor or hamartoma +MONDO:0800445 Birt-Hogg-Dube syndrome 1 MONDO:8000032 Orphanet:122 Orphanet:377789 obsolete malformation syndrome +MONDO:0800446 bleeding diathesis due to thromboxane synthesis deficiency MONDO:0018796 Orphanet:220443 Orphanet:477797 obsolete isolated constitutional thrombocytopenia +MONDO:0850001 congenital neuronal ceroid lipofuscinosis MONDO:0034953 Orphanet:168486 Orphanet:519325 obsolete syndromic inherited retinal disorder +MONDO:0850007 syndromic lacrimal system disorder MONDO:0020195 Orphanet:519274 Orphanet:98605 obsolete excretory apparatus of the lacrimal system anomaly +MONDO:0850009 syndromic microspherophakia MONDO:0020235 Orphanet:519294 Orphanet:98652 obsolete lens size anomaly +MONDO:0850010 congenital optic disk excavation MONDO:0020145 Orphanet:519333 Orphanet:98553 obsolete developmental defect of the eye +MONDO:0850030 complete hemimelia MONDO:0034668 Orphanet:498491 Orphanet:498461 obsolete terminal transverse limb defect +MONDO:0850046 amniotic fluid embolism MONDO:0015582 Orphanet:617304 Orphanet:163637 obsolete rare disorder related with pregnancy, childbirth and puerperium +MONDO:0850048 classic eosinophilic pustular folliculitis MONDO:0019546 Orphanet:617408 Orphanet:90077 obsolete other acquired skin disease +MONDO:0850049 painful legs and moving toes syndrome MONDO:0015143 Orphanet:617440 Orphanet:102003 obsolete rare movement disorder +MONDO:0850049 painful legs and moving toes syndrome MONDO:0032013 Orphanet:617440 Orphanet:377792 obsolete clinical syndrome +MONDO:0850053 F12-associated cold autoinflammatory syndrome MONDO:0017370 Orphanet:617919 Orphanet:290842 obsolete autoinflammatory syndrome with skin involvement +MONDO:0850054 hemophilia B leyden MONDO:8000031 Orphanet:617930 Orphanet:557494 obsolete subtype of a disorder +MONDO:0850058 chronic neurovisceral acid sphingomyelinase deficiency MONDO:0018299 Orphanet:618891 Orphanet:371442 obsolete sphingolipidosis with epilepsy +MONDO:0850058 chronic neurovisceral acid sphingomyelinase deficiency MONDO:0018799 Orphanet:618891 Orphanet:477811 obsolete rare hypercholesterolemia +MONDO:0850058 chronic neurovisceral acid sphingomyelinase deficiency MONDO:0019058 Orphanet:618891 Orphanet:68385 obsolete neurometabolic disease +MONDO:0850059 hereditary persistence of fetal hemoglobin-intellectual disability syndrome MONDO:0035863 Orphanet:619233 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0850065 neonatal-onset severe multisystemic autoinflammatory disease with increased IL18 MONDO:0017370 Orphanet:619363 Orphanet:290842 obsolete autoinflammatory syndrome with skin involvement +MONDO:0850065 neonatal-onset severe multisystemic autoinflammatory disease with increased IL18 MONDO:0017957 Orphanet:619363 Orphanet:324936 obsolete unclassified autoinflammatory syndrome +MONDO:0850066 SAMD9L-associated autoinflammatory syndrome MONDO:0017020 Orphanet:619367 Orphanet:264699 obsolete secondary interstitial lung disease specific to childhood associated with a systemic disease +MONDO:0850066 SAMD9L-associated autoinflammatory syndrome MONDO:0017369 Orphanet:619367 Orphanet:290839 obsolete autoinflammatory syndrome with immune deficiency +MONDO:0850066 SAMD9L-associated autoinflammatory syndrome MONDO:0017370 Orphanet:619367 Orphanet:290842 obsolete autoinflammatory syndrome with skin involvement +MONDO:0850066 SAMD9L-associated autoinflammatory syndrome MONDO:0018782 Orphanet:619367 Orphanet:477647 obsolete type 1 interferonopathy +MONDO:0850068 early-onset autoimmunity-autoinflammation-immunodeficiency syndrome MONDO:0015709 Orphanet:619948 Orphanet:169355 obsolete immunodeficiency syndrome with autoimmunity +MONDO:0850068 early-onset autoimmunity-autoinflammation-immunodeficiency syndrome MONDO:0017956 Orphanet:619948 Orphanet:324933 obsolete mixed autoinflammatory and autoimmune syndrome +MONDO:0850069 familial hyperinflammatory lymphoproliferative immunodeficiency MONDO:0017369 Orphanet:619953 Orphanet:290839 obsolete autoinflammatory syndrome with immune deficiency +MONDO:0850070 CADINS disease MONDO:0019305 Orphanet:619972 Orphanet:79391 obsolete immune deficiency with skin involvement +MONDO:0850071 developmental delay-immunodeficiency-leukoencephalopathy-hypohomocysteinemia syndrome MONDO:0018035 Orphanet:619979 Orphanet:331217 obsolete syndrome with combined immunodeficiency +MONDO:0850071 developmental delay-immunodeficiency-leukoencephalopathy-hypohomocysteinemia syndrome MONDO:0019058 Orphanet:619979 Orphanet:68385 obsolete neurometabolic disease +MONDO:0850073 non-syndromic unicoronal craniosynostosis MONDO:8000030 Orphanet:620102 Orphanet:377791 obsolete morphological anomaly +MONDO:0850074 non-syndromic unilambdoid craniosynostosis MONDO:8000030 Orphanet:620113 Orphanet:377791 obsolete morphological anomaly +MONDO:0850075 non-syndromic unifrontosphenoidal craniosynostosis MONDO:8000030 Orphanet:620139 Orphanet:377791 obsolete morphological anomaly +MONDO:0850076 non-syndromic unisquamosal craniosynostosis MONDO:8000030 Orphanet:620146 Orphanet:377791 obsolete morphological anomaly +MONDO:0850078 non-syndromic non-specific multisutural craniosynostosis MONDO:8000030 Orphanet:620158 Orphanet:377791 obsolete morphological anomaly +MONDO:0850079 non-syndromic bilambdoid craniosynostosis MONDO:8000030 Orphanet:620178 Orphanet:377791 obsolete morphological anomaly +MONDO:0850080 non-syndromic unicoronal and sagittal craniosynostosis MONDO:8000030 Orphanet:620186 Orphanet:377791 obsolete morphological anomaly +MONDO:0850081 non-syndromic metopic and sagittal craniosynostosis MONDO:8000030 Orphanet:620192 Orphanet:377791 obsolete morphological anomaly +MONDO:0850082 non-syndromic bicoronal and metopic craniosynostosis MONDO:8000030 Orphanet:620198 Orphanet:377791 obsolete morphological anomaly +MONDO:0850083 non-syndromic bicoronal and sagittal craniosynostosis MONDO:8000030 Orphanet:620205 Orphanet:377791 obsolete morphological anomaly +MONDO:0850084 non-syndromic pansynostosis MONDO:8000030 Orphanet:620212 Orphanet:377791 obsolete morphological anomaly +MONDO:0850087 primary hypomagnesemia-generalized seizures-intellectual disability-obesity syndrome MONDO:0016565 Orphanet:620363 Orphanet:240371 obsolete syndromic genetic obesity +MONDO:0850087 primary hypomagnesemia-generalized seizures-intellectual disability-obesity syndrome MONDO:0019744 Orphanet:620363 Orphanet:93603 obsolete rare renal tubular disease +MONDO:0850087 primary hypomagnesemia-generalized seizures-intellectual disability-obesity syndrome MONDO:0035862 Orphanet:620363 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome +MONDO:0850088 EGF-related primary hypomagnesemia with intellectual disability MONDO:0019744 Orphanet:620368 Orphanet:93603 obsolete rare renal tubular disease +MONDO:0850089 Gitelman-like kidney tubulopathy due to mitochondrial DNA mutation MONDO:0016793 Orphanet:620371 Orphanet:254776 obsolete mitochondrial oxidative phosphorylation disorder due to a point mutation of mitochondrial DNA +MONDO:0850089 Gitelman-like kidney tubulopathy due to mitochondrial DNA mutation MONDO:0019743 Orphanet:620371 Orphanet:93593 obsolete nephropathy secondary to a storage or other metabolic disease +MONDO:0850089 Gitelman-like kidney tubulopathy due to mitochondrial DNA mutation MONDO:0019744 Orphanet:620371 Orphanet:93603 obsolete rare renal tubular disease +MONDO:0850090 fibrosis-neurodegeneration-cerebral angiomatosis syndrome MONDO:0015918 Orphanet:621758 Orphanet:182070 obsolete rare neurodegenerative disease +MONDO:0850090 fibrosis-neurodegeneration-cerebral angiomatosis syndrome MONDO:0018787 Orphanet:621758 Orphanet:477754 obsolete genetic cerebral small vessel disease +MONDO:0850090 fibrosis-neurodegeneration-cerebral angiomatosis syndrome MONDO:0028569 Orphanet:621758 Orphanet:264992 obsolete genetic interstitial lung disease +MONDO:0850095 X-linked severe syndromic thoracic aortic aneurysm and dissection MONDO:0017311 Orphanet:622925 Orphanet:285014 obsolete rare disease with thoracic aortic aneurysm and aortic dissection +MONDO:0850095 X-linked severe syndromic thoracic aortic aneurysm and dissection MONDO:0800091 Orphanet:622925 Orphanet:498448 obsolete overgrowth or tall stature syndrome with skeletal involvement +MONDO:0850095 X-linked severe syndromic thoracic aortic aneurysm and dissection MONDO:8000032 Orphanet:622925 Orphanet:377789 obsolete malformation syndrome +MONDO:0850096 SBDS-related severe neonatal spondylometaphyseal dysplasia MONDO:8000032 Orphanet:622934 Orphanet:377789 obsolete malformation syndrome +MONDO:0850099 MIR140-related spondyloepiphyseal dysplasia MONDO:8000032 Orphanet:623695 Orphanet:377789 obsolete malformation syndrome +MONDO:0850100 body integrity dysphoria MONDO:0020016 Orphanet:623789 Orphanet:98033 obsolete rare neurologic disease with psychiatric involvement +MONDO:0850102 non-specific autoimmune supratentorial encephalitis with characteristic antibodies MONDO:0015657 Orphanet:624166 Orphanet:166484 obsolete inflammatory and autoimmune disease with epilepsy +MONDO:0850103 non-specific autoimmune supratentorial encephalitis without characteristic antibodies MONDO:0015657 Orphanet:624178 Orphanet:166484 obsolete inflammatory and autoimmune disease with epilepsy +MONDO:0850115 early-onset obesity-hyperphagia-severe developmental delay syndrome MONDO:0015878 Orphanet:99704 Orphanet:180772 obsolete rare disease with autism +MONDO:0850115 early-onset obesity-hyperphagia-severe developmental delay syndrome MONDO:0016565 Orphanet:99704 Orphanet:240371 obsolete syndromic genetic obesity +MONDO:0850115 early-onset obesity-hyperphagia-severe developmental delay syndrome MONDO:0035862 Orphanet:99704 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome +MONDO:0858989 autosomal recessive spastic paraplegia type 84 MONDO:0015089 Orphanet:631079 Orphanet:100981 obsolete autosomal recessive complex spastic paraplegia +MONDO:0858990 autosomal recessive spastic paraplegia type 85 MONDO:0015089 Orphanet:631082 Orphanet:100981 obsolete autosomal recessive complex spastic paraplegia +MONDO:0858991 autosomal recessive spastic paraplegia type 86 MONDO:0015089 Orphanet:631085 Orphanet:100981 obsolete autosomal recessive complex spastic paraplegia +MONDO:0858992 autosomal recessive spastic paraplegia type 87 MONDO:0017915 Orphanet:631088 Orphanet:320346 obsolete pure or complex autosomal recessive spastic paraplegia +MONDO:0858997 cancer of unknown primary site MONDO:0020031 Orphanet:631251 Orphanet:98057 obsolete rare tumor +MONDO:0858998 mesomelic dysplasia-digital anomalies-intellectual disability syndrome MONDO:0019697 Orphanet:632603 Orphanet:93438 obsolete mesomelic and rhizo-mesomelic dysplasia +MONDO:0858998 mesomelic dysplasia-digital anomalies-intellectual disability syndrome MONDO:0035863 Orphanet:632603 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0858998 mesomelic dysplasia-digital anomalies-intellectual disability syndrome MONDO:8000032 Orphanet:632603 Orphanet:377789 obsolete malformation syndrome +MONDO:0858999 KDM3B-related intellectual disability-facial dysmorphism-short stature syndrome MONDO:0015329 Orphanet:633004 Orphanet:139021 obsolete malformation syndrome with short stature +MONDO:0858999 KDM3B-related intellectual disability-facial dysmorphism-short stature syndrome MONDO:0026187 Orphanet:633004 Orphanet:183570 obsolete genetic malformation syndrome with short stature +MONDO:0858999 KDM3B-related intellectual disability-facial dysmorphism-short stature syndrome MONDO:0035863 Orphanet:633004 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0859000 SLC12A2-related developmental delay-intellectual disability-sensorineural deafness syndrome MONDO:0019589 Orphanet:633014 Orphanet:90642 obsolete syndromic genetic hearing loss +MONDO:0859000 SLC12A2-related developmental delay-intellectual disability-sensorineural deafness syndrome MONDO:0035862 Orphanet:633014 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome +MONDO:0859002 intellectual disability-early-onset cataract-microcephaly syndrome MONDO:0017119 Orphanet:633035 Orphanet:269528 obsolete syndrome with microcephaly as major feature +MONDO:0859002 intellectual disability-early-onset cataract-microcephaly syndrome MONDO:0020225 Orphanet:633035 Orphanet:98641 obsolete syndromic cataract +MONDO:0859002 intellectual disability-early-onset cataract-microcephaly syndrome MONDO:0035863 Orphanet:633035 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0859002 intellectual disability-early-onset cataract-microcephaly syndrome MONDO:8000032 Orphanet:633035 Orphanet:377789 obsolete malformation syndrome +MONDO:0859003 PAICS deficiency MONDO:0018731 Orphanet:633099 Orphanet:459787 obsolete lethal multiple congenital anomalies/dysmorphic syndrome +MONDO:0859003 PAICS deficiency MONDO:8000032 Orphanet:633099 Orphanet:377789 obsolete malformation syndrome +MONDO:0859004 invasive scopulariopsis infection MONDO:0015578 Orphanet:633124 Orphanet:163591 obsolete rare mycosis +MONDO:0859004 invasive scopulariopsis infection MONDO:0035426 Orphanet:633124 Orphanet:565779 obsolete rare disorder potentially indicated for transplant or complication after transplantation +MONDO:0859005 preaxial digit brachydactyly-webbed fingers MONDO:0800093 Orphanet:633211 Orphanet:498451 obsolete dysostosis with brachydactyly without extraskeletal manifestations +MONDO:0859005 preaxial digit brachydactyly-webbed fingers MONDO:8000032 Orphanet:633211 Orphanet:377789 obsolete malformation syndrome +MONDO:0859006 proximal femoral focal deficiency MONDO:0017420 Orphanet:633228 Orphanet:294927 obsolete intercalary limb defects +MONDO:0859006 proximal femoral focal deficiency MONDO:8000030 Orphanet:633228 Orphanet:377791 obsolete morphological anomaly +MONDO:0859008 neurofibromatosis/schwannomatosis MONDO:0016756 Orphanet:634518 Orphanet:252190 obsolete inherited nervous system cancer-predisposing syndrome +MONDO:0859139 blepharophimosis-impaired intellectual development syndrome MONDO:8000032 Orphanet:637013 Orphanet:377789 obsolete malformation syndrome +MONDO:0859200 cerebellar ataxia, brain abnormalities, and cardiac conduction defects MONDO:0035862 Orphanet:641361 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome +MONDO:0859761 SLC12A2-related autosomal recessive neonatal-developmental delay-intellectual disability-feeding difficulty-sensorineural deafness syndrome MONDO:8000031 Orphanet:633021 Orphanet:557494 obsolete subtype of a disorder +MONDO:0859762 SLC12A2-related autosomal dominant infantile-developmental delay-intellectual disability-sensorineural deafness syndrome MONDO:8000031 Orphanet:633024 Orphanet:557494 obsolete subtype of a disorder +MONDO:0957001 obsolete hereditary mixed dermis disorder MONDO:0026160 Orphanet:183481 Orphanet:183472 obsolete genetic dermis disorder +MONDO:0957003 hereditary neuro-ophthalmological disease MONDO:0035037 Orphanet:183616 Orphanet:522504 obsolete rare genetic disorder of the visual organs +MONDO:0957024 obsolete hereditary 46,XX disorder of sex development MONDO:0031016 Orphanet:325697 Orphanet:325690 obsolete genetic disorder of sex development +MONDO:0957025 obsolete hereditary 46,XY disorder of sex development MONDO:0031016 Orphanet:325706 Orphanet:325690 obsolete genetic disorder of sex development +MONDO:0957097 hereditary hemolytic uremic syndrome MONDO:0015910 Orphanet:576742 Orphanet:182043 obsolete rare constitutional hemolytic anemia +MONDO:0957097 hereditary hemolytic uremic syndrome MONDO:0026193 Orphanet:576742 Orphanet:183589 obsolete genetic thrombotic microangiopathy +MONDO:0957397 intellectual developmental disorder, autosomal dominant 72 MONDO:0016565 Orphanet:652487 Orphanet:240371 obsolete syndromic genetic obesity +MONDO:0957397 intellectual developmental disorder, autosomal dominant 72 MONDO:0035862 Orphanet:652487 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome +MONDO:0957397 intellectual developmental disorder, autosomal dominant 72 MONDO:8000032 Orphanet:652487 Orphanet:377789 obsolete malformation syndrome +MONDO:0957404 obsolete pyogenic autoinflammatory syndrome of childhood MONDO:0957018 Orphanet:324942 Orphanet:319719 autoinflammatory syndrome of childhood +MONDO:0957421 borna virus encephalitis MONDO:0015659 Orphanet:637051 Orphanet:166490 obsolete infectious disease with epilepsy +MONDO:0957426 autosomal recessive hyper-IgE syndrome MONDO:0019305 Orphanet:641368 Orphanet:79391 obsolete immune deficiency with skin involvement +MONDO:0957426 autosomal recessive hyper-IgE syndrome MONDO:0026166 Orphanet:641368 Orphanet:183494 obsolete genetic immune deficiency with skin involvement +MONDO:0957430 childhood-onset schizophrenia MONDO:0020016 Orphanet:641496 Orphanet:98033 obsolete rare neurologic disease with psychiatric involvement +MONDO:0957431 endogenous Cushing syndrome MONDO:0015124 Orphanet:641613 Orphanet:101954 obsolete rare adrenal disease +MONDO:0957432 neonatal compartment syndrome MONDO:0024471 Orphanet:641829 Orphanet:496924 obsolete non-inflammatory vasculopathy +MONDO:0957432 neonatal compartment syndrome MONDO:0032013 Orphanet:641829 Orphanet:377792 obsolete clinical syndrome +MONDO:0957442 autosomal recessive ataxia due to PEX16 deficiency MONDO:0019058 Orphanet:642954 Orphanet:68385 obsolete neurometabolic disease +MONDO:0957443 autosomal recessive ataxia due to PEX2 deficiency MONDO:0019058 Orphanet:642965 Orphanet:68385 obsolete neurometabolic disease +MONDO:0957451 non-terminal myelocystocele MONDO:8000030 Orphanet:645340 Orphanet:377791 obsolete morphological anomaly +MONDO:0957452 segmental arterial mediolysis MONDO:0024471 Orphanet:645350 Orphanet:496924 obsolete non-inflammatory vasculopathy +MONDO:0957453 true myelomeningocele MONDO:8000031 Orphanet:645383 Orphanet:557494 obsolete subtype of a disorder +MONDO:0957454 hemi-myelomeningocele MONDO:8000031 Orphanet:645388 Orphanet:557494 obsolete subtype of a disorder +MONDO:0957456 classical dermatomyositis MONDO:8000031 Orphanet:645613 Orphanet:557494 obsolete subtype of a disorder +MONDO:0957458 adermatopathic dermatomyositis MONDO:8000031 Orphanet:645626 Orphanet:557494 obsolete subtype of a disorder +MONDO:0957459 congenital esophageal stenosis MONDO:0015207 Orphanet:645749 Orphanet:108959 obsolete non-syndromic esophageal malformation +MONDO:0957459 congenital esophageal stenosis MONDO:8000030 Orphanet:645749 Orphanet:377791 obsolete morphological anomaly +MONDO:0957460 spontaneous intestinal perforation MONDO:0015245 Orphanet:645793 Orphanet:117569 obsolete rare intestinal disease +MONDO:0957460 spontaneous intestinal perforation MONDO:0015621 Orphanet:645793 Orphanet:165711 obsolete rare abdominal surgical disease +MONDO:0957462 primary pulmonary tuberculosis MONDO:0015118 Orphanet:645814 Orphanet:101944 obsolete rare pulmonary disease +MONDO:0957463 primary bone and joint tuberculosis MONDO:0019684 Orphanet:645822 Orphanet:93419 obsolete rare bone disease +MONDO:0957464 primary cutaneous tuberculosis MONDO:0019546 Orphanet:645849 Orphanet:90077 obsolete other acquired skin disease +MONDO:0957465 multifocal tuberculosis MONDO:0019843 Orphanet:645854 Orphanet:95617 obsolete pituitary hormone deficiency secondary to a granulomatous disease +MONDO:0957466 primary tuberculosis of the digestive system MONDO:0019997 Orphanet:645859 Orphanet:97935 obsolete rare gastroenterologic disease +MONDO:0957467 primary genito-urinary tuberculosis MONDO:0018396 Orphanet:645874 Orphanet:399824 obsolete rare male fertility disorder with obstructive azoospermia +MONDO:0957473 craniosynostosis-facial dysmorphism-chiari-1 malformation-developmental and language delay syndrome MONDO:8000032 Orphanet:647681 Orphanet:377789 obsolete malformation syndrome +MONDO:0957476 isolated persistent urogenital sinus MONDO:0015932 Orphanet:647794 Orphanet:182117 obsolete non-syndromic urogenital tract malformation of female +MONDO:0957476 isolated persistent urogenital sinus MONDO:8000030 Orphanet:647794 Orphanet:377791 obsolete morphological anomaly +MONDO:0957477 MYT1L-related developmental delay-intellectual disability-obesity syndrome MONDO:0016565 Orphanet:647799 Orphanet:240371 obsolete syndromic genetic obesity +MONDO:0957477 MYT1L-related developmental delay-intellectual disability-obesity syndrome MONDO:0020016 Orphanet:647799 Orphanet:98033 obsolete rare neurologic disease with psychiatric involvement +MONDO:0957477 MYT1L-related developmental delay-intellectual disability-obesity syndrome MONDO:0035862 Orphanet:647799 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome +MONDO:0957481 idiopathic pregnancy-associated osteoporosis MONDO:0015582 Orphanet:647823 Orphanet:163637 obsolete rare disorder related with pregnancy, childbirth and puerperium +MONDO:0957481 idiopathic pregnancy-associated osteoporosis MONDO:0019684 Orphanet:647823 Orphanet:93419 obsolete rare bone disease +MONDO:0957487 idiopathic catatonia MONDO:0020016 Orphanet:648919 Orphanet:98033 obsolete rare neurologic disease with psychiatric involvement +MONDO:0957556 congenital pulmonary vein atresia MONDO:8000030 Orphanet:99126 Orphanet:377791 obsolete morphological anomaly +MONDO:8000006 WHIM syndrome 1 MONDO:0018032 Orphanet:51636 Orphanet:331184 obsolete constitutional neutropenia with extra-hematopoietic manifestations +MONDO:8000006 WHIM syndrome 1 MONDO:0018033 Orphanet:51636 Orphanet:331193 obsolete other immunodeficiency syndromes due to defects in innate immunity +MONDO:8000008 Martsolf syndrome 1 MONDO:0015890 Orphanet:1387 Orphanet:181387 obsolete rare disorder with congenital hypogonadotropic hypogonadism +MONDO:8000008 Martsolf syndrome 1 MONDO:0020225 Orphanet:1387 Orphanet:98641 obsolete syndromic cataract +MONDO:8000008 Martsolf syndrome 1 MONDO:0035863 Orphanet:1387 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:8000008 Martsolf syndrome 1 MONDO:8000032 Orphanet:1387 Orphanet:377789 obsolete malformation syndrome +MONDO:8000010 antiphospholipid syndrome MONDO:0015582 Orphanet:80 Orphanet:163637 obsolete rare disorder related with pregnancy, childbirth and puerperium +MONDO:8000010 antiphospholipid syndrome MONDO:0015939 Orphanet:80 Orphanet:182228 obsolete systemic autoimmune disease +MONDO:8000010 antiphospholipid syndrome MONDO:0016634 Orphanet:80 Orphanet:248365 obsolete thrombotic disorder due to an acquired coagulation factors defect +MONDO:8000011 visceral neuropathy, familial, 1, autosomal recessive MONDO:8000031 Orphanet:99811 Orphanet:557494 obsolete subtype of a disorder +MONDO:8000012 neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset 1 MONDO:0015112 Orphanet:456312 Orphanet:101937 obsolete rare pancreatic disease +MONDO:8000012 neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset 1 MONDO:0015361 Orphanet:456312 Orphanet:140459 obsolete autosomal recessive hereditary demyelinating motor and sensory neuropathy +MONDO:8000012 neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset 1 MONDO:0015618 Orphanet:456312 Orphanet:165661 obsolete genetic pancreatic disease +MONDO:8000012 neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset 1 MONDO:0015778 Orphanet:456312 Orphanet:177107 obsolete syndromic hypothyroidism +MONDO:8000012 neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset 1 MONDO:0019589 Orphanet:456312 Orphanet:90642 obsolete syndromic genetic hearing loss +MONDO:8000012 neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset 1 MONDO:0035863 Orphanet:456312 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:8000015 46,XY sex reversal 11 MONDO:0017966 Orphanet:983 Orphanet:325118 obsolete 46,XY disorder of gonadal development +MONDO:8000015 46,XY sex reversal 11 MONDO:0020090 Orphanet:983 Orphanet:98313 obsolete male infertility due to gonadal dysgenesis +MONDO:8000015 46,XY sex reversal 11 MONDO:8000030 Orphanet:983 Orphanet:377791 obsolete morphological anomaly +MONDO:8000030 obsolete morphological anomaly MONDO:8000034 Orphanet:377791 Orphanet:557493 obsolete disorder +MONDO:8000032 obsolete malformation syndrome MONDO:8000034 Orphanet:377789 Orphanet:557493 obsolete disorder diff --git a/src/ontology/reports/ordo.subclass.added.robot.tsv b/src/ontology/reports/ordo.subclass.added.robot.tsv index 349b8c6c..8b50fef1 100644 --- a/src/ontology/reports/ordo.subclass.added.robot.tsv +++ b/src/ontology/reports/ordo.subclass.added.robot.tsv @@ -1,23 +1,1291 @@ subject_mondo_id subject_mondo_label object_mondo_id subject_source_id object_source_id object_mondo_label ID AI obo:mondo#excluded_subClassOf >A oboInOwl:source +MONDO:0000044 hereditary hypophosphatemic rickets MONDO:0015962 Orphanet:437 Orphanet:183592 inherited renal tubular disease +MONDO:0000044 hereditary hypophosphatemic rickets MONDO:0017322 Orphanet:437 Orphanet:289098 disorders of vitamin D metabolism +MONDO:0000087 polymicrogyria MONDO:0015159 Orphanet:35981 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0000141 mosaic variegated aneuploidy syndrome MONDO:0015159 Orphanet:1052 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0000171 muscular dystrophy-dystroglycanopathy, type A MONDO:0016156 Orphanet:899 Orphanet:207119 qualitative or quantitative defects of FKRP +MONDO:0000171 muscular dystrophy-dystroglycanopathy, type A MONDO:0016184 Orphanet:899 Orphanet:209030 qualitative or quantitative defects of protein O-mannosyltransferase 1 +MONDO:0000171 muscular dystrophy-dystroglycanopathy, type A MONDO:0016185 Orphanet:899 Orphanet:209033 qualitative or quantitative defects of protein O-mannosyltransferase 2 +MONDO:0000200 Zimmermann-Laband syndrome MONDO:0015159 Orphanet:3473 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0000565 infective endocarditis MONDO:0016345 Orphanet:570762 Orphanet:217720 non-familial restrictive cardiomyopathy +MONDO:0000688 inborn organic aciduria MONDO:0019189 Orphanet:289899 Orphanet:79062 inborn disorder of amino acid and other organic acid metabolism +MONDO:0000902 agenesis of the corpus callosum with peripheral neuropathy MONDO:0015159 Orphanet:1496 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0000903 myoclonus-dystonia syndrome MONDO:0957114 Orphanet:36899 Orphanet:98741 neurological muscular channelopathy due to a genetic potassium channel defect +MONDO:0001549 hemolytic-uremic syndrome MONDO:0019737 Orphanet:544458 Orphanet:93573 thrombotic microangiopathy +MONDO:0001586 mucopolysaccharidosis type 1 MONDO:0800088 Orphanet:579 Orphanet:93448 lysosomal storage disease with skeletal involvement +MONDO:0001595 choreatic disease MONDO:0015548 Orphanet:1429 Orphanet:158266 Huntington disease-like syndrome +MONDO:0001734 tuberous sclerosis MONDO:0019294 Orphanet:805 Orphanet:79380 mixed dermis disorder +MONDO:0001734 tuberous sclerosis MONDO:0019741 Orphanet:805 Orphanet:93587 familial cystic renal disease +MONDO:0002474 primary hyperoxaluria MONDO:0017703 Orphanet:416 Orphanet:308998 disorder of glyoxylate metabolism +MONDO:0002520 hepatic porphyria MONDO:0019142 Orphanet:95157 Orphanet:738 inherited porphyria +MONDO:0003795 ovarian small cell carcinoma MONDO:0018365 Orphanet:370396 Orphanet:398940 malignant non-epithelial tumor of ovary +MONDO:0005035 ganglioneuroblastoma MONDO:0016713 Orphanet:251877 Orphanet:251870 central nervous system Ewing sarcoma/peripheral primitive neuroectodermal tumor +MONDO:0005048 pancreatic insulin-producing neuroendocrine tumor MONDO:0023206 Orphanet:97279 Orphanet:506060 functional pancreatic neuroendocrine tumor +MONDO:0005072 neuroblastoma MONDO:0016713 Orphanet:635 Orphanet:251870 central nervous system Ewing sarcoma/peripheral primitive neuroectodermal tumor +MONDO:0005100 systemic sclerosis MONDO:0016345 Orphanet:90291 Orphanet:217720 non-familial restrictive cardiomyopathy +MONDO:0005116 Whipple disease MONDO:0015979 Orphanet:3452 Orphanet:183710 hereditary predisposition to infections +MONDO:0005164 fibrosarcoma MONDO:0021054 Orphanet:2030 Orphanet:223727 bone sarcoma +MONDO:0005272 myelodysplastic syndrome with single lineage dysplasia MONDO:0019453 Orphanet:98826 Orphanet:86836 myelodysplastic syndrome with multilineage dysplasia +MONDO:0005502 dengue disease MONDO:0018093 Orphanet:99828 Orphanet:344 arbovirus fever +MONDO:0005764 follicular dendritic cell sarcoma MONDO:0018078 Orphanet:86902 Orphanet:3394 soft tissue sarcoma +MONDO:0005797 HIV wasting syndrome MONDO:0017769 Orphanet:90081 Orphanet:310050 acquired immunodeficiency +MONDO:0005817 Kluver-Bucy syndrome MONDO:0006009 Orphanet:157823 Orphanet:98252 viral encephalitis +MONDO:0005823 legionellosis MONDO:0005823 Orphanet:549 Orphanet:600832 legionellosis +MONDO:0006033 diffuse intrinsic pontine glioma MONDO:0016680 Orphanet:497188 Orphanet:251561 high grade astrocytic tumor +MONDO:0006037 hydrolethalus syndrome MONDO:0005308 Orphanet:2189 Orphanet:363250 ciliopathy +MONDO:0006238 growth hormone-producing pituitary gland adenoma MONDO:0003429 Orphanet:96256 Orphanet:314753 functioning pituitary gland adenoma +MONDO:0006825 kuru MONDO:0035562 Orphanet:454745 Orphanet:576360 acquired human prion disease +MONDO:0006976 somatostatinoma MONDO:0015063 Orphanet:97283 Orphanet:100076 duodenal neuroendocrine tumor, well differentiated, low or intermediate grade +MONDO:0006976 somatostatinoma MONDO:0015064 Orphanet:97283 Orphanet:100077 jejunal neuroendocrine tumor, well differentiated, low or intermediate grade +MONDO:0006976 somatostatinoma MONDO:0023206 Orphanet:97283 Orphanet:506060 functional pancreatic neuroendocrine tumor +MONDO:0007034 Adams-Oliver syndrome MONDO:0015159 Orphanet:974 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0007034 Adams-Oliver syndrome MONDO:0019294 Orphanet:974 Orphanet:79380 mixed dermis disorder +MONDO:0007039 neurofibromatosis type 2 MONDO:0859008 Orphanet:637 Orphanet:634518 neurofibromatosis/schwannomatosis +MONDO:0007041 Apert syndrome MONDO:0015159 Orphanet:87 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0007073 Hypoglossia-hypodactyly syndrome MONDO:0015159 Orphanet:989 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0007085 alopecia-epilepsy-pyorrhea-intellectual disability syndrome MONDO:0004907 Orphanet:1008 Orphanet:79364 alopecia +MONDO:0007113 Angelman syndrome MONDO:0015159 Orphanet:72 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0007119 isolated aniridia MONDO:0011119 Orphanet:250923 Orphanet:98634 iridogoniodysgenesis +MONDO:0007123 ankyloblepharon filiforme adnatum-cleft palate syndrome MONDO:0007124 Orphanet:1072 Orphanet:1071 ankyloblepharon-ectodermal defects-cleft lip/palate syndrome +MONDO:0007142 Townes-Brocks syndrome MONDO:0015159 Orphanet:857 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0007168 atelosteogenesis type III MONDO:0015159 Orphanet:56305 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0007176 helicoid peripapillary chorioretinal degeneration MONDO:0957337 Orphanet:86813 Orphanet:519300 isolated chorioretinal dystrophy +MONDO:0007230 Brachymorphism-onychodysplasia-dysphalangism syndrome MONDO:0015159 Orphanet:1292 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0007251 campomelic dysplasia MONDO:0015159 Orphanet:140 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0007276 cat-eye syndrome MONDO:0850008 Orphanet:195 Orphanet:519276 anterior segment developmental abnormality with extraocular manifestations +MONDO:0007294 central core myopathy MONDO:0957115 Orphanet:597 Orphanet:98742 neurological muscular channelopathy due to a genetic ryanodine receptor defect +MONDO:0007301 cerebrocostomandibular syndrome MONDO:0015159 Orphanet:1393 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0007318 Alagille syndrome MONDO:0850008 Orphanet:52 Orphanet:519276 anterior segment developmental abnormality with extraocular manifestations +MONDO:0007334 autosomal dominant popliteal pterygium syndrome MONDO:0015159 Orphanet:1300 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0007354 coloboma of optic nerve MONDO:0850010 Orphanet:98947 Orphanet:519333 congenital optic disk excavation +MONDO:0007355 uveal coloboma-cleft lip and palate-intellectual disability MONDO:0850008 Orphanet:1473 Orphanet:519276 anterior segment developmental abnormality with extraocular manifestations +MONDO:0007398 craniorhiny MONDO:0016643 Orphanet:157832 Orphanet:250 frontonasal dysplasia +MONDO:0007412 Beare-Stevenson cutis gyrata syndrome MONDO:0021154 Orphanet:1555 Orphanet:79381 dermis disorder +MONDO:0007526 Ehlers-Danlos syndrome, spondylodysplastic type MONDO:0015159 Orphanet:75496 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0007526 Ehlers-Danlos syndrome, spondylodysplastic type MONDO:0034021 Orphanet:75496 Orphanet:536471 spondylodysplastic Ehlers-Danlos syndrome +MONDO:0007534 Beckwith-Wiedemann syndrome MONDO:0015496 Orphanet:116 Orphanet:156207 macroglossia +MONDO:0007539 encephalopathy, recurrent, of childhood MONDO:0100309 Orphanet:2672 Orphanet:183518 hereditary ataxia +MONDO:0007552 pretibial dystrophic epidermolysis bullosa MONDO:0035349 Orphanet:79410 Orphanet:595356 localized dystrophic epidermolysis bullosa +MONDO:0007558 benign occipital epilepsy MONDO:0020072 Orphanet:25968 Orphanet:98259 childhood-onset epilepsy syndrome +MONDO:0007590 hemifacial hypertrophy MONDO:0015496 Orphanet:141145 Orphanet:156207 macroglossia +MONDO:0007606 fibrodysplasia ossificans progressiva MONDO:0015159 Orphanet:337 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0007630 North Carolina macular dystrophy MONDO:0957048 Orphanet:75327 Orphanet:519302 isolated macular dystrophy +MONDO:0007640 Sorsby fundus dystrophy MONDO:0957048 Orphanet:59181 Orphanet:519302 isolated macular dystrophy +MONDO:0007640 Sorsby fundus dystrophy MONDO:0957337 Orphanet:59181 Orphanet:519300 isolated chorioretinal dystrophy +MONDO:0007669 renal cysts and diabetes syndrome MONDO:0008264 Orphanet:93111 Orphanet:34149 autosomal dominant medullary cystic kidney disease with or without hyperuricemia +MONDO:0007679 GMS syndrome MONDO:0015159 Orphanet:2090 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0007679 GMS syndrome MONDO:0850008 Orphanet:2090 Orphanet:519276 anterior segment developmental abnormality with extraocular manifestations +MONDO:0007690 aromatase excess syndrome MONDO:0015791 Orphanet:178345 Orphanet:178040 peripheral precocious puberty +MONDO:0007762 hyperlipoproteinemia type V MONDO:0018637 Orphanet:530849 Orphanet:444490 familial chylomicronemia syndrome +MONDO:0007800 chromosome 18p deletion syndrome MONDO:0007800 Orphanet:1598 Orphanet:261974 chromosome 18p deletion syndrome +MONDO:0007803 multiple system atrophy MONDO:0015914 Orphanet:102 Orphanet:182058 primary orthostatic hypotension +MONDO:0007804 Pallister-Hall syndrome MONDO:0015159 Orphanet:672 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0007808 ichthyosis hystrix of Curth-Macklin MONDO:0017266 Orphanet:79503 Orphanet:281103 keratinopathic ichthyosis +MONDO:0007827 inclusion body myositis MONDO:0020122 Orphanet:611 Orphanet:98482 acquired idiopathic inflammatory myopathy +MONDO:0007846 KBG syndrome MONDO:0015338 Orphanet:2332 Orphanet:139393 syndromic craniosynostosis +MONDO:0007856 palmoplantar keratoderma-esophageal carcinoma syndrome MONDO:0015356 Orphanet:2198 Orphanet:140162 hereditary neoplastic syndrome +MONDO:0007862 Waardenburg syndrome type 3 MONDO:0008537 Orphanet:896 Orphanet:98575 telecanthus +MONDO:0007864 angioosteohypertrophic syndrome MONDO:0007864 Orphanet:90308 Orphanet:2346 angioosteohypertrophic syndrome +MONDO:0007864 angioosteohypertrophic syndrome MONDO:0019293 Orphanet:2346 Orphanet:79379 skin vascular disease +MONDO:0007893 Noonan syndrome with multiple lentigines MONDO:0019289 Orphanet:500 Orphanet:79375 hyperpigmentation of the skin +MONDO:0007893 Noonan syndrome with multiple lentigines MONDO:0850064 Orphanet:500 Orphanet:619340 inherited hematologic cancer-predisposing syndrome +MONDO:0007896 acute monocytic leukemia MONDO:0015667 Orphanet:514 Orphanet:167714 acute myeloid leukemia by FAB classification +MONDO:0007906 familial partial lipodystrophy, Dunnigan type MONDO:0015333 Orphanet:2348 Orphanet:139033 progeroid syndrome +MONDO:0007915 systemic lupus erythematosus MONDO:0019737 Orphanet:536 Orphanet:93573 thrombotic microangiopathy +MONDO:0007931 vitelliform macular dystrophy 2 MONDO:0957048 Orphanet:1243 Orphanet:519302 isolated macular dystrophy +MONDO:0007934 benign concentric annular macular dystrophy MONDO:0957048 Orphanet:251287 Orphanet:519302 isolated macular dystrophy +MONDO:0007935 cystoid macular edema MONDO:0957048 Orphanet:75381 Orphanet:519302 isolated macular dystrophy +MONDO:0007947 Marfan syndrome MONDO:0007947 Orphanet:284963 Orphanet:558 Marfan syndrome +MONDO:0007988 autosomal dominant primary microcephaly MONDO:0015159 Orphanet:2514 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0007993 microgastria-limb reduction defect syndrome MONDO:0015159 Orphanet:2538 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0007998 microspherophakia-metaphyseal dysplasia syndrome MONDO:0850009 Orphanet:2551 Orphanet:519294 syndromic microspherophakia +MONDO:0008006 Mobius syndrome MONDO:0015159 Orphanet:570 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0008045 spinal muscular atrophy-progressive myoclonic epilepsy syndrome MONDO:0020074 Orphanet:2590 Orphanet:98261 progressive myoclonus epilepsy +MONDO:0008047 episodic ataxia type 1 MONDO:0015653 Orphanet:37612 Orphanet:166472 monogenic epilepsy +MONDO:0008050 MYH7-related skeletal myopathy MONDO:0016108 Orphanet:59135 Orphanet:206650 autosomal dominant distal myopathy +MONDO:0008075 schwannomatosis MONDO:0859008 Orphanet:93921 Orphanet:634518 neurofibromatosis/schwannomatosis +MONDO:0008082 multiple endocrine neoplasia type 2B MONDO:0021227 Orphanet:247709 Orphanet:100091 adrenal gland neoplasm +MONDO:0008108 oculocerebrocutaneous syndrome MONDO:0015650 Orphanet:1647 Orphanet:166463 epilepsy syndrome +MONDO:0008111 oculodentodigital dysplasia MONDO:0015159 Orphanet:2710 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0008137 orofaciodigital syndrome X MONDO:0015159 Orphanet:2756 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0008138 syndromic orbital border hypoplasia MONDO:0850007 Orphanet:98606 Orphanet:519274 syndromic lacrimal system disorder +MONDO:0008145 Ollier disease MONDO:0015356 Orphanet:296 Orphanet:140162 hereditary neoplastic syndrome +MONDO:0008145 Ollier disease MONDO:0019716 Orphanet:296 Orphanet:93460 overgrowth syndrome +MONDO:0008150 osteoglophonic dwarfism MONDO:0015338 Orphanet:2645 Orphanet:139393 syndromic craniosynostosis +MONDO:0008158 dacryocystitis-osteopoikilosis syndrome MONDO:0850007 Orphanet:1562 Orphanet:519274 syndromic lacrimal system disorder +MONDO:0008163 otofaciocervical syndrome MONDO:0015159 Orphanet:2792 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0008185 hereditary chronic pancreatitis MONDO:0015967 Orphanet:676 Orphanet:183625 monogenic diabetes +MONDO:0008195 paramyotonia congenita of Von Eulenburg MONDO:0957111 Orphanet:684 Orphanet:98738 neurological muscular channelopathy due to a genetic sodium channel defect +MONDO:0008199 late-onset Parkinson disease MONDO:0015914 Orphanet:411602 Orphanet:182058 primary orthostatic hypotension +MONDO:0008199 late-onset Parkinson disease MONDO:0021272 Orphanet:411602 Orphanet:448426 inherited orthostatic hypotension +MONDO:0008209 Char syndrome MONDO:0015159 Orphanet:46627 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0008222 Andersen-Tawil syndrome MONDO:0957114 Orphanet:37553 Orphanet:98741 neurological muscular channelopathy due to a genetic potassium channel defect +MONDO:0008223 hypokalemic periodic paralysis MONDO:0957111 Orphanet:681 Orphanet:98738 neurological muscular channelopathy due to a genetic sodium channel defect +MONDO:0008223 hypokalemic periodic paralysis MONDO:0957113 Orphanet:681 Orphanet:98740 neurological muscular channelopathy due to a genetic calcium channel defect +MONDO:0008223 hypokalemic periodic paralysis MONDO:0957114 Orphanet:681 Orphanet:98741 neurological muscular channelopathy due to a genetic potassium channel defect +MONDO:0008224 hyperkalemic periodic paralysis MONDO:0957111 Orphanet:682 Orphanet:98738 neurological muscular channelopathy due to a genetic sodium channel defect +MONDO:0008234 multiple endocrine neoplasia type 2A MONDO:0021227 Orphanet:247698 Orphanet:100091 adrenal gland neoplasm +MONDO:0008246 pigmented paravenous retinochoroidal atrophy MONDO:0957337 Orphanet:251295 Orphanet:519300 isolated chorioretinal dystrophy +MONDO:0008260 Kindler syndrome MONDO:0015951 Orphanet:2908 Orphanet:183490 hereditary photodermatosis +MONDO:0008264 autosomal dominant medullary cystic kidney disease with or without hyperuricemia MONDO:0015962 Orphanet:34149 Orphanet:183592 inherited renal tubular disease +MONDO:0008267 orofaciodigital syndrome V MONDO:0015159 Orphanet:2919 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0008280 Peutz-Jeghers syndrome MONDO:0019289 Orphanet:2869 Orphanet:79375 hyperpigmentation of the skin +MONDO:0008287 Greig cephalopolysyndactyly syndrome MONDO:0005308 Orphanet:380 Orphanet:363250 ciliopathy +MONDO:0008287 Greig cephalopolysyndactyly syndrome MONDO:0015161 Orphanet:380 Orphanet:102285 multiple congenital anomalies/dysmorphic syndrome without intellectual disability +MONDO:0008300 Prader-Willi syndrome MONDO:0015159 Orphanet:739 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0008311 progeria-short stature-pigmented nevi syndrome MONDO:0015333 Orphanet:2959 Orphanet:139033 progeroid syndrome +MONDO:0008311 progeria-short stature-pigmented nevi syndrome MONDO:0019303 Orphanet:2959 Orphanet:79389 premature aging syndrome +MONDO:0008394 Silver-Russell syndrome MONDO:0015159 Orphanet:813 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0008395 Ruvalcaba syndrome MONDO:0015159 Orphanet:3121 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0008409 congenital myopathy 7A, myosin storage, autosomal dominant MONDO:0018889 Orphanet:636965 Orphanet:53698 hyaline body myopathy +MONDO:0008411 ulnar-mammary syndrome MONDO:0015159 Orphanet:3138 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0008429 Singleton-Merten dysplasia MONDO:0957408 Orphanet:85191 Orphanet:481671 type 1 interferonopathy of childhood +MONDO:0008434 Smith-Magenis syndrome MONDO:0022754 Orphanet:819 Orphanet:261965 chromosome 17p deletion +MONDO:0008485 sebocystomatosis MONDO:0021029 Orphanet:841 Orphanet:183460 hereditary sebaceous gland anomaly +MONDO:0008486 steatocystoma multiplex-natal teeth syndrome MONDO:0021029 Orphanet:3184 Orphanet:183460 hereditary sebaceous gland anomaly +MONDO:0008499 short stature-wormian bones-dextrocardia syndrome MONDO:0015159 Orphanet:2863 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0008501 Sturge-Weber syndrome MONDO:0019293 Orphanet:3205 Orphanet:79379 skin vascular disease +MONDO:0008501 Sturge-Weber syndrome MONDO:0019716 Orphanet:3205 Orphanet:93460 overgrowth syndrome +MONDO:0008523 Blau syndrome MONDO:0021154 Orphanet:90340 Orphanet:79381 dermis disorder +MONDO:0008523 Blau syndrome MONDO:0957405 Orphanet:90340 Orphanet:324950 granulomatous autoinflammatory syndrome of childhood +MONDO:0008562 thumb deformity-alopecia-pigmentation anomaly syndrome MONDO:0019287 Orphanet:2251 Orphanet:79373 ectodermal dysplasia syndrome +MONDO:0008563 thumb stiffness-brachydactyly-intellectual disability syndrome MONDO:0015159 Orphanet:1078 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0008608 Down syndrome MONDO:0015159 Orphanet:870 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0008642 VACTERL/vater association MONDO:0015161 Orphanet:887 Orphanet:102285 multiple congenital anomalies/dysmorphic syndrome without intellectual disability +MONDO:0008662 autosomal dominant vitreoretinochoroidopathy MONDO:0850009 Orphanet:3086 Orphanet:519294 syndromic microspherophakia +MONDO:0008667 von Hippel-Lindau disease MONDO:0015079 Orphanet:892 Orphanet:100094 multiple polyglandular tumor +MONDO:0008667 von Hippel-Lindau disease MONDO:0019741 Orphanet:892 Orphanet:93587 familial cystic renal disease +MONDO:0008667 von Hippel-Lindau disease MONDO:0021227 Orphanet:892 Orphanet:100091 adrenal gland neoplasm +MONDO:0008670 Waardenburg syndrome type 1 MONDO:0008537 Orphanet:894 Orphanet:98575 telecanthus +MONDO:0008675 Freeman-Sheldon syndrome MONDO:0957111 Orphanet:2053 Orphanet:98738 neurological muscular channelopathy due to a genetic sodium channel defect +MONDO:0008678 Williams syndrome MONDO:0015159 Orphanet:904 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0008678 Williams syndrome MONDO:0015338 Orphanet:904 Orphanet:139393 syndromic craniosynostosis +MONDO:0008681 WAGR syndrome MONDO:0015159 Orphanet:893 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0008693 ablepharon macrostomia syndrome MONDO:0015159 Orphanet:920 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0008694 pseudoprogeria syndrome MONDO:0015333 Orphanet:2985 Orphanet:139033 progeroid syndrome +MONDO:0008708 acrocallosal syndrome MONDO:0015338 Orphanet:36 Orphanet:139393 syndromic craniosynostosis +MONDO:0008711 Goodman syndrome MONDO:0015161 Orphanet:65798 Orphanet:102285 multiple congenital anomalies/dysmorphic syndrome without intellectual disability +MONDO:0008723 very long chain acyl-CoA dehydrogenase deficiency MONDO:0017714 Orphanet:26793 Orphanet:309120 acyl-CoA dehydrogenase deficiency +MONDO:0008726 Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis MONDO:0018479 Orphanet:63269 Orphanet:418 congenital adrenal hyperplasia +MONDO:0008730 congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency MONDO:0019852 Orphanet:90793 Orphanet:95710 inherited primary ovarian failure +MONDO:0008754 alopecia - contractures - dwarfism - intellectual disability syndrome MONDO:0015159 Orphanet:1005 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0008756 alopecia - intellectual disability syndrome MONDO:0004907 Orphanet:2850 Orphanet:79364 alopecia +MONDO:0008763 Alstrom syndrome MONDO:0015962 Orphanet:64 Orphanet:183592 inherited renal tubular disease +MONDO:0008763 Alstrom syndrome MONDO:0015967 Orphanet:64 Orphanet:183625 monogenic diabetes +MONDO:0008763 Alstrom syndrome MONDO:0022410 Orphanet:64 Orphanet:156165 retinal ciliopathy +MONDO:0008766 amaurosis-hypertrichosis syndrome MONDO:0019280 Orphanet:1021 Orphanet:79365 hypertrichosis +MONDO:0008799 anophthalmia/microphthalmia-esophageal atresia syndrome MONDO:0015159 Orphanet:77298 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0008800 microphthalmia with limb anomalies MONDO:0015159 Orphanet:1106 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0008800 microphthalmia with limb anomalies MONDO:0016073 Orphanet:1106 Orphanet:202948 syndromic microphthalmia +MONDO:0008803 Antley-Bixler syndrome MONDO:0015159 Orphanet:83 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0008809 polyneuropathy-hand defect syndrome MONDO:0015626 Orphanet:2926 Orphanet:166 Charcot-Marie-Tooth disease +MONDO:0008812 AREDYLD syndrome MONDO:0015967 Orphanet:1133 Orphanet:183625 monogenic diabetes +MONDO:0008840 ataxia telangiectasia MONDO:0019293 Orphanet:100 Orphanet:79379 skin vascular disease +MONDO:0008842 ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia MONDO:0018151 Orphanet:1168 Orphanet:35656 coenzyme Q10 deficiency +MONDO:0008843 atherosclerosis-deafness-diabetes-epilepsy-nephropathy syndrome MONDO:0015650 Orphanet:1192 Orphanet:166463 epilepsy syndrome +MONDO:0008850 Cooper-Jabs syndrome MONDO:0015159 Orphanet:1488 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0008855 MHC class II deficiency MONDO:0018814 Orphanet:572 Orphanet:480549 non-SCID combined immunodeficiency +MONDO:0008855 MHC class II deficiency MONDO:0019787 Orphanet:572 Orphanet:94075 autoimmune enteropathy +MONDO:0008865 Bietti crystalline corneoretinal dystrophy MONDO:0957337 Orphanet:41751 Orphanet:519300 isolated chorioretinal dystrophy +MONDO:0008896 campomelia, Cumming type MONDO:0015159 Orphanet:1318 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability MONDO:0008905 predisposition to invasive fungal disease due to CARD9 deficiency MONDO:0000001 Orphanet:457088 Orphanet:377788 disease +MONDO:0008926 COFS syndrome MONDO:0016006 Orphanet:1466 Orphanet:191 Cockayne syndrome +MONDO:0008935 cerebellar ataxia-hypogonadism syndrome MONDO:0100309 Orphanet:1173 Orphanet:183518 hereditary ataxia +MONDO:0008941 hepatic fibrosis-renal cysts-intellectual disability syndrome MONDO:0015159 Orphanet:2031 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0008941 hepatic fibrosis-renal cysts-intellectual disability syndrome MONDO:0019741 Orphanet:2031 Orphanet:93587 familial cystic renal disease +MONDO:0008959 CHAND syndrome MONDO:0019287 Orphanet:1401 Orphanet:79373 ectodermal dysplasia syndrome +MONDO:0008963 Chediak-Higashi syndrome MONDO:0015978 Orphanet:167 Orphanet:183681 functional neutrophil defect +MONDO:0008965 CHARGE syndrome MONDO:0015159 Orphanet:138 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0008975 otospondylomegaepiphyseal dysplasia MONDO:0022800 Orphanet:1427 Orphanet:93421 type 2 collagenopathy +MONDO:0008977 chondrosarcoma MONDO:0021054 Orphanet:55880 Orphanet:223727 bone sarcoma +MONDO:0008982 central areolar choroidal dystrophy MONDO:0957048 Orphanet:75377 Orphanet:519302 isolated macular dystrophy +MONDO:0008982 central areolar choroidal dystrophy MONDO:0957337 Orphanet:75377 Orphanet:519300 isolated chorioretinal dystrophy +MONDO:0008995 Yunis-Varon syndrome MONDO:0015159 Orphanet:3472 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0009021 Toriello-Carey syndrome MONDO:0015159 Orphanet:3338 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0009028 Crane-Heise syndrome MONDO:0015159 Orphanet:1512 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0009032 cranioectodermal dysplasia MONDO:0019741 Orphanet:1515 Orphanet:93587 familial cystic renal disease +MONDO:0009034 craniofacial dyssynostosis MONDO:0850077 Orphanet:1516 Orphanet:620152 non-syndromic multisutural craniosynostosis +MONDO:0009045 cataract-nephropathy-encephalopathy syndrome MONDO:0015962 Orphanet:1380 Orphanet:183592 inherited renal tubular disease +MONDO:0009046 Fraser syndrome MONDO:0015159 Orphanet:2052 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0009054 autosomal recessive cutis laxa type 2, classic type MONDO:0018163 Orphanet:357074 Orphanet:357058 autosomal recessive cutis laxa type 2A +MONDO:0009063 ventriculomegaly-cystic kidney disease MONDO:0019741 Orphanet:443988 Orphanet:93587 familial cystic renal disease +MONDO:0009069 congenital lactic acidosis, Saguenay-Lac-Saint-Jean type MONDO:0020257 Orphanet:70472 Orphanet:98687 supranuclear oculomotor palsy +MONDO:0009070 D-glyceric aciduria MONDO:0017703 Orphanet:941 Orphanet:308998 disorder of glyoxylate metabolism +MONDO:0009104 Donnai-Barrow syndrome MONDO:0015159 Orphanet:2143 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0009105 trichohepatoenteric syndrome MONDO:0957408 Orphanet:84064 Orphanet:481671 type 1 interferonopathy of childhood +MONDO:0009124 Dubowitz syndrome MONDO:0015338 Orphanet:235 Orphanet:139393 syndromic craniosynostosis +MONDO:0009130 Dyggve-Melchior-Clausen disease MONDO:0015159 Orphanet:239 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0009131 Riley-Day syndrome MONDO:0015914 Orphanet:1764 Orphanet:182058 primary orthostatic hypotension +MONDO:0009131 Riley-Day syndrome MONDO:0021154 Orphanet:1764 Orphanet:79381 dermis disorder +MONDO:0009131 Riley-Day syndrome MONDO:0021272 Orphanet:1764 Orphanet:448426 inherited orthostatic hypotension +MONDO:0009149 ectodermal dysplasia-intellectual disability-central nervous system malformation syndrome MONDO:0015159 Orphanet:1812 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0009162 Ellis-van Creveld syndrome MONDO:0019741 Orphanet:289 Orphanet:93587 familial cystic renal disease +MONDO:0009162 Ellis-van Creveld syndrome MONDO:0022410 Orphanet:289 Orphanet:156165 retinal ciliopathy +MONDO:0009169 endocardial fibroelastosis MONDO:0016338 Orphanet:2022 Orphanet:217629 non-familial dilated cardiomyopathy +MONDO:0009169 endocardial fibroelastosis MONDO:0016345 Orphanet:2022 Orphanet:217720 non-familial restrictive cardiomyopathy +MONDO:0009174 protein-losing enteropathy MONDO:0018178 Orphanet:566175 Orphanet:36204 intestinal lymphangiectasia +MONDO:0009176 epidermodysplasia verruciformis MONDO:0015356 Orphanet:302 Orphanet:140162 hereditary neoplastic syndrome +MONDO:0009188 epilepsy-telangiectasia syndrome MONDO:0015650 Orphanet:1951 Orphanet:166463 epilepsy syndrome +MONDO:0009192 Wolcott-Rallison syndrome MONDO:0015159 Orphanet:1667 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0009192 Wolcott-Rallison syndrome MONDO:0015967 Orphanet:1667 Orphanet:183625 monogenic diabetes +MONDO:0009204 lethal faciocardiomelic dysplasia MONDO:0043009 Orphanet:1972 Orphanet:471383 hereditary lethal multiple congenital anomalies/dysmorphic syndrome +MONDO:0009216 glycogen storage disease due to GLUT2 deficiency MONDO:0019226 Orphanet:2088 Orphanet:79178 glucose transport disorder +MONDO:0009218 Farber lipogranulomatosis MONDO:0019296 Orphanet:333 Orphanet:79382 subcutaneous tissue disorder +MONDO:0009239 hypogonadotropic hypogonadism 24 without anosmia MONDO:0015770 Orphanet:52901 Orphanet:174590 congenital hypogonadotropic hypogonadism +MONDO:0009249 hereditary fructose intolerance MONDO:0017706 Orphanet:469 Orphanet:309001 disorder of carbohydrate transmembrane transport and absorption +MONDO:0009251 fructose-1,6-bisphosphatase deficiency MONDO:0017689 Orphanet:348 Orphanet:308463 disorder of fructose metabolism +MONDO:0009266 Gaucher disease type II MONDO:0020143 Orphanet:77260 Orphanet:98544 cerebral lipidosis with dementia +MONDO:0009267 Gaucher disease type III MONDO:0020143 Orphanet:77261 Orphanet:98544 cerebral lipidosis with dementia +MONDO:0009272 German syndrome MONDO:0015225 Orphanet:2077 Orphanet:109007 arthrogryposis syndrome +MONDO:0009272 German syndrome MONDO:0043009 Orphanet:2077 Orphanet:471383 hereditary lethal multiple congenital anomalies/dysmorphic syndrome +MONDO:0009292 glycogen storage disease due to glycogen branching enzyme deficiency MONDO:0016333 Orphanet:367 Orphanet:217607 familial dilated cardiomyopathy +MONDO:0009306 combined immunodeficiency with skin granulomas MONDO:0018814 Orphanet:157949 Orphanet:480549 non-SCID combined immunodeficiency +MONDO:0009313 Grubben-de Cock-Borghgraef syndrome MONDO:0015159 Orphanet:2101 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0009318 Hallermann-Streiff syndrome MONDO:0015159 Orphanet:2108 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0009318 Hallermann-Streiff syndrome MONDO:0019287 Orphanet:2108 Orphanet:79373 ectodermal dysplasia syndrome +MONDO:0009324 Hartnup disease MONDO:0015951 Orphanet:2116 Orphanet:183490 hereditary photodermatosis +MONDO:0009324 Hartnup disease MONDO:0017687 Orphanet:2116 Orphanet:308451 disorder of neutral amino acid transport +MONDO:0009329 pulmonary venoocclusive disease 2 MONDO:0018554 Orphanet:199241 Orphanet:431353 pulmonary veno-occlusive disease and/or pulmonary capillary haemangiomatosis +MONDO:0009331 isolated hemihyperplasia MONDO:0015496 Orphanet:2128 Orphanet:156207 macroglossia +MONDO:0009333 mullerian derivatives-lymphangiectasia-polydactyly syndrome MONDO:0015161 Orphanet:1655 Orphanet:102285 multiple congenital anomalies/dysmorphic syndrome without intellectual disability +MONDO:0009373 seizures-intellectual disability due to hydroxylysinuria syndrome MONDO:0015159 Orphanet:79156 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0009406 hypertrichotic osteochondrodysplasia Cantu type MONDO:0015159 Orphanet:1517 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0009411 autoimmune polyendocrine syndrome type 1 MONDO:0019851 Orphanet:3453 Orphanet:95709 acquired primary ovarian failure +MONDO:0009419 Woodhouse-Sakati syndrome MONDO:0015967 Orphanet:3464 Orphanet:183625 monogenic diabetes +MONDO:0009425 hypomandibular faciocranial dysostosis MONDO:0015159 Orphanet:1790 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0009446 ichthyosis-intellectual disability-dwarfism-renal impairment syndrome MONDO:0015159 Orphanet:2278 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0009448 iminoglycinuria MONDO:0017687 Orphanet:42062 Orphanet:308451 disorder of neutral amino acid transport +MONDO:0009452 Vici syndrome MONDO:0015159 Orphanet:1493 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0009452 Vici syndrome MONDO:0019290 Orphanet:1493 Orphanet:79376 hypopigmentation of the skin +MONDO:0009473 isotretinoin-like syndrome MONDO:0015159 Orphanet:2306 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0009477 Stromme syndrome MONDO:0022410 Orphanet:506307 Orphanet:156165 retinal ciliopathy +MONDO:0009477 Stromme syndrome MONDO:0850008 Orphanet:506307 Orphanet:519276 anterior segment developmental abnormality with extraocular manifestations +MONDO:0009478 combined immunodeficiency due to DOCK8 deficiency MONDO:0018814 Orphanet:217390 Orphanet:480549 non-SCID combined immunodeficiency +MONDO:0009479 Johanson-Blizzard syndrome MONDO:0019287 Orphanet:2315 Orphanet:79373 ectodermal dysplasia syndrome +MONDO:0009480 Joubert syndrome with oculorenal defect MONDO:0015159 Orphanet:2318 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0009480 Joubert syndrome with oculorenal defect MONDO:0019741 Orphanet:2318 Orphanet:93587 familial cystic renal disease +MONDO:0009485 oculocerebrofacial syndrome, Kaufman type MONDO:0008537 Orphanet:2707 Orphanet:98575 telecanthus +MONDO:0009493 Richards-Rundle syndrome MONDO:0015159 Orphanet:1399 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0009517 Donohue syndrome MONDO:0015333 Orphanet:508 Orphanet:139033 progeroid syndrome +MONDO:0009517 Donohue syndrome MONDO:0019280 Orphanet:508 Orphanet:79365 hypertrichosis +MONDO:0009522 Leukomelanoderma-infantilism-intellectual disability-hypodontia-hypotrichosis syndrome MONDO:0015159 Orphanet:1816 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0009525 split hand-foot malformation 3 MONDO:0015159 Orphanet:1307 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0009547 macrosomia-microphthalmia-cleft palate syndrome MONDO:0016073 Orphanet:2432 Orphanet:202948 syndromic microphthalmia +MONDO:0009547 macrosomia-microphthalmia-cleft palate syndrome MONDO:0043009 Orphanet:2432 Orphanet:471383 hereditary lethal multiple congenital anomalies/dysmorphic syndrome +MONDO:0009560 oculotrichoanal syndrome MONDO:0015161 Orphanet:2717 Orphanet:102285 multiple congenital anomalies/dysmorphic syndrome without intellectual disability +MONDO:0009569 Hennekam-Beemer syndrome MONDO:0015159 Orphanet:2135 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0009575 thiamine-responsive megaloblastic anemia syndrome MONDO:0015967 Orphanet:49827 Orphanet:183625 monogenic diabetes +MONDO:0009575 thiamine-responsive megaloblastic anemia syndrome MONDO:0020099 Orphanet:49827 Orphanet:98362 inherited sideroblastic anemia +MONDO:0009577 megalocornea-intellectual disability syndrome MONDO:0015159 Orphanet:2479 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0009579 Frank-Ter Haar syndrome MONDO:0018233 Orphanet:137834 Orphanet:364541 otopalatodigital syndrome spectrum disorder +MONDO:0009581 intellectual disability-dysmorphism-hypogonadism-diabetes mellitus syndrome MONDO:0015967 Orphanet:3044 Orphanet:183625 monogenic diabetes +MONDO:0009582 Mietens syndrome MONDO:0015159 Orphanet:2557 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0009585 encephalopathy due to beta-mercaptolactate-cysteine disulfiduria MONDO:0019222 Orphanet:1035 Orphanet:79173 inborn disorder of methionine cycle and sulfur amino acid metabolism +MONDO:0009592 metaphyseal acroscyphodysplasia MONDO:0015159 Orphanet:1240 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0009598 metaphyseal chondrodysplasia-retinitis pigmentosa syndrome MONDO:0015159 Orphanet:166035 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0009599 metaphyseal dysostosis-intellectual disability-conductive deafness syndrome MONDO:0015159 Orphanet:2502 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0009619 microcephaly-micromelia syndrome MONDO:0035534 Orphanet:572768 Orphanet:572761 DONSON-related microcephaly-short stature-limb abnormalities spectrum +MONDO:0009623 Nijmegen breakage syndrome MONDO:0015159 Orphanet:647 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0009624 microcephaly and chorioretinopathy 1 MONDO:0015159 Orphanet:2518 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0009626 pseudo-TORCH syndrome MONDO:0015159 Orphanet:1229 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0009627 Galloway-Mowat syndrome MONDO:0015159 Orphanet:2065 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0009637 inborn mitochondrial myopathy MONDO:0020123 Orphanet:206966 Orphanet:98486 metabolic myopathy +MONDO:0009642 orofaciodigital syndrome type II MONDO:0015159 Orphanet:2751 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0009648 peripheral motor neuropathy-dysautonomia syndrome MONDO:0021272 Orphanet:2400 Orphanet:448426 inherited orthostatic hypotension +MONDO:0009650 mucolipidosis type II MONDO:0015159 Orphanet:576 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0009652 GNPTG-mucolipidosis MONDO:0018931 Orphanet:423470 Orphanet:577 mucolipidosis type III, alpha/beta +MONDO:0009668 lethal multiple pterygium syndrome MONDO:0043009 Orphanet:33108 Orphanet:471383 hereditary lethal multiple congenital anomalies/dysmorphic syndrome +MONDO:0009685 Miyoshi myopathy MONDO:0016145 Orphanet:45448 Orphanet:207073 qualitative or quantitative defects of dysferlin +MONDO:0009708 myopathy, myosin storage, autosomal recessive MONDO:0018889 Orphanet:636970 Orphanet:53698 hyaline body myopathy +MONDO:0009710 Thomsen and Becker disease MONDO:0957112 Orphanet:614 Orphanet:98739 neurological muscular channelopathy due to a genetic chloride channel defect +MONDO:0009711 congenital fiber-type disproportion myopathy MONDO:0016193 Orphanet:2020 Orphanet:209059 qualitative or quantitative defects of alpha-actin +MONDO:0009711 congenital fiber-type disproportion myopathy MONDO:0016197 Orphanet:2020 Orphanet:209193 qualitative or quantitative defects of selenoprotein N1 +MONDO:0009712 congenital multicore myopathy with external ophthalmoplegia MONDO:0957115 Orphanet:98905 Orphanet:98742 neurological muscular channelopathy due to a genetic ryanodine receptor defect +MONDO:0009716 Richieri Costa-da Silva syndrome MONDO:0015159 Orphanet:3101 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0009717 Schwartz-Jampel syndrome MONDO:0016106 Orphanet:800 Orphanet:206644 progressive muscular dystrophy +MONDO:0009720 Keipert syndrome MONDO:0015159 Orphanet:2662 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0009723 Leigh syndrome MONDO:0020257 Orphanet:506 Orphanet:98687 supranuclear oculomotor palsy +MONDO:0009726 proteosome-associated autoinflammatory syndrome MONDO:0020087 Orphanet:324977 Orphanet:98305 hereditary lipodystrophy +MONDO:0009726 proteosome-associated autoinflammatory syndrome MONDO:0957408 Orphanet:324977 Orphanet:481671 type 1 interferonopathy of childhood +MONDO:0009727 atelosteogenesis type II MONDO:0015159 Orphanet:56304 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0009738 sialidosis type 2 MONDO:0015159 Orphanet:87876 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0009742 neuroectodermal melanolysosomal disease MONDO:0019289 Orphanet:33445 Orphanet:79375 hyperpigmentation of the skin +MONDO:0009742 neuroectodermal melanolysosomal disease MONDO:0019716 Orphanet:33445 Orphanet:93460 overgrowth syndrome +MONDO:0009766 oculocerebral hypopigmentation syndrome of Preus MONDO:0015159 Orphanet:2720 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0009766 oculocerebral hypopigmentation syndrome of Preus MONDO:0017305 Orphanet:2720 Orphanet:284811 syndromic oculocutaneous albinism +MONDO:0009767 oculocerebral hypopigmentation syndrome, Cross type MONDO:0015159 Orphanet:2719 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0009772 oculorenocerebellar syndrome MONDO:0015159 Orphanet:2715 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0009793 orofaciodigital syndrome III MONDO:0015159 Orphanet:2752 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0009794 orofaciodigital syndrome IV MONDO:0015159 Orphanet:2753 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0009798 Primrose syndrome MONDO:0015159 Orphanet:3042 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0009810 autosomal recessive distal osteolysis syndrome MONDO:0015159 Orphanet:2776 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0009814 osteopenia-intellectual disability-sparse hair syndrome MONDO:0015159 Orphanet:2324 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0009820 osteoporosis-pseudoglioma syndrome MONDO:0015159 Orphanet:2788 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0009833 Shwachman-Diamond syndrome MONDO:0001713 Orphanet:811 Orphanet:68383 inherited aplastic anemia +MONDO:0009833 Shwachman-Diamond syndrome MONDO:0015159 Orphanet:811 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0009833 Shwachman-Diamond syndrome MONDO:0015978 Orphanet:811 Orphanet:183681 functional neutrophil defect +MONDO:0009841 PEHO syndrome MONDO:0015650 Orphanet:2836 Orphanet:166463 epilepsy syndrome +MONDO:0009856 Peters plus syndrome MONDO:0850008 Orphanet:709 Orphanet:519276 anterior segment developmental abnormality with extraocular manifestations +MONDO:0009925 autosomal recessive inherited pseudoxanthoma elasticum MONDO:0016340 Orphanet:758 Orphanet:217635 familial restrictive cardiomyopathy +MONDO:0009937 pulmonary venoocclusive disease MONDO:0018554 Orphanet:31837 Orphanet:431353 pulmonary veno-occlusive disease and/or pulmonary capillary haemangiomatosis +MONDO:0009940 pycnodysostosis MONDO:0015338 Orphanet:763 Orphanet:139393 syndromic craniosynostosis +MONDO:0009952 radioulnar synostosis-developmental delay-hypotonia syndrome MONDO:0015338 Orphanet:3270 Orphanet:139393 syndromic craniosynostosis +MONDO:0009954 Ramon syndrome MONDO:0015159 Orphanet:3019 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0009958 adult Refsum disease MONDO:0019046 Orphanet:773 Orphanet:68356 leukodystrophy +MONDO:0009958 adult Refsum disease MONDO:0020044 Orphanet:773 Orphanet:98096 autosomal recessive metabolic cerebellar ataxia +MONDO:0009964 short-rib thoracic dysplasia 9 with or without polydactyly MONDO:0019741 Orphanet:140969 Orphanet:93587 familial cystic renal disease +MONDO:0009983 retinitis pigmentosa-intellectual disability-deafness-hypogenitalism syndrome MONDO:0015159 Orphanet:3085 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0009983 retinitis pigmentosa-intellectual disability-deafness-hypogenitalism syndrome MONDO:0022410 Orphanet:3085 Orphanet:156165 retinal ciliopathy +MONDO:0009990 Revesz syndrome MONDO:0001713 Orphanet:3088 Orphanet:68383 inherited aplastic anemia +MONDO:0009998 Richieri Costa-Pereira syndrome MONDO:0018237 Orphanet:3102 Orphanet:364574 acrofacial dysostosis +MONDO:0010001 ectodermal dysplasia-blindness syndrome MONDO:0016073 Orphanet:1806 Orphanet:202948 syndromic microphthalmia +MONDO:0010002 Rothmund-Thomson syndrome MONDO:0015333 Orphanet:2909 Orphanet:139033 progeroid syndrome +MONDO:0010002 Rothmund-Thomson syndrome MONDO:0016382 Orphanet:2909 Orphanet:222628 hereditary poikiloderma +MONDO:0010010 Schinzel-Giedion syndrome MONDO:0015159 Orphanet:798 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0010012 autoimmune polyendocrinopathy type 2 MONDO:0019851 Orphanet:3143 Orphanet:95709 acquired primary ovarian failure +MONDO:0010023 combined immunodeficiency due to ZAP70 deficiency MONDO:0018814 Orphanet:911 Orphanet:480549 non-SCID combined immunodeficiency +MONDO:0010026 SHORT syndrome MONDO:0015159 Orphanet:3163 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0010026 SHORT syndrome MONDO:0015333 Orphanet:3163 Orphanet:139033 progeroid syndrome +MONDO:0010026 SHORT syndrome MONDO:0850008 Orphanet:3163 Orphanet:519276 anterior segment developmental abnormality with extraocular manifestations +MONDO:0010061 autosomal recessive cerebellar ataxia-blindness-deafness syndrome MONDO:0019053 Orphanet:95433 Orphanet:68373 peroxisomal disease +MONDO:0010061 autosomal recessive cerebellar ataxia-blindness-deafness syndrome MONDO:0020044 Orphanet:95433 Orphanet:98096 autosomal recessive metabolic cerebellar ataxia +MONDO:0010063 corneal-cerebellar syndrome MONDO:0015159 Orphanet:3177 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0010063 corneal-cerebellar syndrome MONDO:0100309 Orphanet:3177 Orphanet:183518 hereditary ataxia +MONDO:0010073 spondyloepiphyseal dysplasia tarda, Kohn type MONDO:0015159 Orphanet:163665 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0010082 subaortic stenosis-short stature syndrome MONDO:0015161 Orphanet:3191 Orphanet:102285 multiple congenital anomalies/dysmorphic syndrome without intellectual disability +MONDO:0010115 thoracic dysplasia-hydrocephalus syndrome MONDO:0019691 Orphanet:1861 Orphanet:93426 short rib dysplasia +MONDO:0010152 trichomegaly-retina pigmentary degeneration-dwarfism syndrome MONDO:0015159 Orphanet:3363 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0010165 ulna hypoplasia-intellectual disability syndrome MONDO:0015159 Orphanet:2249 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0010172 VACTERL with hydrocephalus MONDO:0015159 Orphanet:3412 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0010176 orofaciodigital syndrome type 6 MONDO:0015159 Orphanet:2754 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0010176 orofaciodigital syndrome type 6 MONDO:0015369 Orphanet:2754 Orphanet:140874 Joubert syndrome and related disorders +MONDO:0010184 methylmalonic aciduria and homocystinuria type cblC MONDO:0001549 Orphanet:79282 Orphanet:544458 hemolytic-uremic syndrome +MONDO:0010184 methylmalonic aciduria and homocystinuria type cblC MONDO:0957097 Orphanet:79282 Orphanet:576742 hereditary hemolytic uremic syndrome +MONDO:0010196 Werner syndrome MONDO:0016382 Orphanet:902 Orphanet:222628 hereditary poikiloderma +MONDO:0010200 Wilson disease MONDO:0020257 Orphanet:905 Orphanet:98687 supranuclear oculomotor palsy +MONDO:0010214 xeroderma pigmentosum variant type MONDO:0015333 Orphanet:90342 Orphanet:139033 progeroid syndrome +MONDO:0010258 MEHMO syndrome MONDO:0015159 Orphanet:85282 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0010261 microphthalmia, syndromic 2 MONDO:0015159 Orphanet:2712 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0010263 Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome MONDO:0015159 Orphanet:86818 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0010263 Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome MONDO:0017007 Orphanet:86818 Orphanet:263756 partial deletion of the long arm of chromosome X +MONDO:0010275 spondyloepimetaphyseal dysplasia, Bieganski type MONDO:0019046 Orphanet:83629 Orphanet:68356 leukodystrophy +MONDO:0010275 spondyloepimetaphyseal dysplasia, Bieganski type MONDO:0024237 Orphanet:83629 Orphanet:183500 inherited neurodegenerative disorder +MONDO:0010278 Christianson syndrome MONDO:0015159 Orphanet:85278 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0010278 Christianson syndrome MONDO:0016612 Orphanet:85278 Orphanet:247765 X-linked cerebellar ataxia +MONDO:0010279 terminal osseous dysplasia-pigmentary defects syndrome MONDO:0019289 Orphanet:88630 Orphanet:79375 hyperpigmentation of the skin +MONDO:0010281 Danon disease MONDO:0016333 Orphanet:34587 Orphanet:217607 familial dilated cardiomyopathy +MONDO:0010284 Armfield syndrome MONDO:0015159 Orphanet:85276 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0010311 Becker muscular dystrophy MONDO:0016147 Orphanet:98895 Orphanet:207085 qualitative or quantitative defects of dystrophin +MONDO:0010323 Atkin-Flaitz syndrome MONDO:0015159 Orphanet:1193 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0010325 X-linked intellectual disability, Stocco dos Santos type MONDO:0015159 Orphanet:85288 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0010333 corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome MONDO:0015159 Orphanet:52055 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0010333 corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome MONDO:0850008 Orphanet:52055 Orphanet:519276 anterior segment developmental abnormality with extraocular manifestations +MONDO:0010334 severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome MONDO:0015159 Orphanet:369939 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0010337 X-linked intellectual disability-cerebellar hypoplasia syndrome MONDO:0015159 Orphanet:137831 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0010353 deafness-intellectual disability, Martin-Probst type syndrome MONDO:0015159 Orphanet:85321 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0010355 syndromic X-linked intellectual disability Claes-Jensen type MONDO:0015653 Orphanet:85279 Orphanet:166472 monogenic epilepsy +MONDO:0010383 fragile X syndrome MONDO:0015159 Orphanet:908 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0010386 immunodeficiency 33 MONDO:0017905 Orphanet:319612 Orphanet:319605 X-linked Mendelian susceptibility to mycobacterial diseases +MONDO:0010409 syndromic X-linked intellectual disability Shrimpton type MONDO:0015159 Orphanet:85324 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0010412 X-linked intellectual disability-craniofacioskeletal syndrome MONDO:0015159 Orphanet:163979 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0010417 syndromic X-linked intellectual disability Najm type MONDO:0015159 Orphanet:163937 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0010441 CK syndrome MONDO:0019240 Orphanet:251383 Orphanet:79195 sterol biosynthesis disorder +MONDO:0010448 moyamoya angiopathy-short stature-facial dysmorphism-hypergonadotropic hypogonadism syndrome MONDO:0015159 Orphanet:280679 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0010455 X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia MONDO:0018814 Orphanet:317476 Orphanet:480549 non-SCID combined immunodeficiency +MONDO:0010457 Ogden syndrome MONDO:0015159 Orphanet:276432 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0010461 syndromic X-linked intellectual disability Nascimento type MONDO:0015159 Orphanet:163956 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0010463 X-linked dominant chondrodysplasia, Chassaing-Lacombe type MONDO:0015159 Orphanet:163966 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0010464 X-linked cerebral-cerebellar-coloboma syndrome syndrome MONDO:0015159 Orphanet:163961 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0010498 MEND syndrome MONDO:0015159 Orphanet:401973 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0010507 Xq25 microduplication syndrome MONDO:0015159 Orphanet:521258 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0010514 combined immunodeficiency due to moesin deficiency MONDO:0018814 Orphanet:504530 Orphanet:480549 non-SCID combined immunodeficiency +MONDO:0010519 alpha thalassemia-X-linked intellectual disability syndrome MONDO:0015159 Orphanet:847 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0010523 X-linked reticulate pigmentary disorder MONDO:0957408 Orphanet:85453 Orphanet:481671 type 1 interferonopathy of childhood +MONDO:0010526 Fabry disease MONDO:0019293 Orphanet:324 Orphanet:79379 skin vascular disease +MONDO:0010529 X-linked spinocerebellar ataxia type 3 MONDO:0015159 Orphanet:85297 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0010531 contractures-ectodermal dysplasia-cleft lip/palate syndrome MONDO:0015159 Orphanet:1484 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0010533 Arts syndrome MONDO:0016612 Orphanet:1187 Orphanet:247765 X-linked cerebellar ataxia +MONDO:0010533 Arts syndrome MONDO:0019236 Orphanet:1187 Orphanet:79191 inborn disorder of purine metabolism +MONDO:0010534 X-linked spinocerebellar ataxia type 4 MONDO:0024237 Orphanet:85292 Orphanet:183500 inherited neurodegenerative disorder +MONDO:0010537 Borjeson-Forssman-Lehmann syndrome MONDO:0015159 Orphanet:127 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0010537 Borjeson-Forssman-Lehmann syndrome MONDO:0015653 Orphanet:127 Orphanet:166472 monogenic epilepsy +MONDO:0010539 X-linked mandibulofacial dysostosis MONDO:0015159 Orphanet:1131 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0010539 X-linked mandibulofacial dysostosis MONDO:0018237 Orphanet:1131 Orphanet:364574 acrofacial dysostosis +MONDO:0010545 Nance-Horan syndrome MONDO:0015159 Orphanet:627 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0010557 choroideremia MONDO:0957337 Orphanet:180 Orphanet:519300 isolated chorioretinal dystrophy +MONDO:0010561 Coffin-Lowry syndrome MONDO:0015159 Orphanet:192 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0010570 craniofrontonasal syndrome MONDO:0015159 Orphanet:1520 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0010570 craniofrontonasal syndrome MONDO:0015338 Orphanet:1520 Orphanet:139393 syndromic craniosynostosis +MONDO:0010570 craniofrontonasal syndrome MONDO:0016643 Orphanet:1520 Orphanet:250 frontonasal dysplasia +MONDO:0010570 craniofrontonasal syndrome MONDO:0018237 Orphanet:1520 Orphanet:364574 acrofacial dysostosis +MONDO:0010571 otopalatodigital syndrome type 2 MONDO:0015159 Orphanet:90652 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0010572 occipital horn syndrome MONDO:0015159 Orphanet:198 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0010578 deafness dystonia syndrome MONDO:0016802 Orphanet:52368 Orphanet:254834 mitochondrial protein import disorder +MONDO:0010590 FG syndrome 1 MONDO:0015159 Orphanet:93932 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0010592 focal dermal hypoplasia MONDO:0015159 Orphanet:2092 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0010592 focal dermal hypoplasia MONDO:0019287 Orphanet:2092 Orphanet:79373 ectodermal dysplasia syndrome +MONDO:0010592 focal dermal hypoplasia MONDO:0019294 Orphanet:2092 Orphanet:79380 mixed dermis disorder +MONDO:0010610 holoprosencephaly-hypokinesia-congenital contractures syndrome MONDO:0043009 Orphanet:2570 Orphanet:471383 hereditary lethal multiple congenital anomalies/dysmorphic syndrome +MONDO:0010638 keratosis follicularis-dwarfism-cerebral atrophy syndrome MONDO:0015159 Orphanet:2339 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0010641 X-linked diffuse leiomyomatosis-Alport syndrome MONDO:0018965 Orphanet:1018 Orphanet:63 Alport syndrome +MONDO:0010650 Melnick-Needles syndrome MONDO:0015161 Orphanet:2484 Orphanet:102285 multiple congenital anomalies/dysmorphic syndrome without intellectual disability +MONDO:0010652 X-linked intellectual disability-seizures-psoriasis syndrome MONDO:0015159 Orphanet:3052 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0010653 Renpenning syndrome MONDO:0015159 Orphanet:3242 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0010661 severe X-linked intellectual disability, Gustavson type MONDO:0015159 Orphanet:3078 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0010662 paraplegia-intellectual disability-hyperkeratosis syndrome MONDO:0015159 Orphanet:2824 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0010664 syndromic X-linked intellectual disability Snyder type MONDO:0015159 Orphanet:3063 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0010665 Wilson-Turner syndrome MONDO:0015159 Orphanet:3459 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0010667 Prieto syndrome MONDO:0015159 Orphanet:2958 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0010668 skeletal dysplasia-intellectual disability syndrome MONDO:0015159 Orphanet:1436 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0010671 microphthalmia, syndromic 1 MONDO:0015159 Orphanet:85275 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0010672 linear skin defects with multiple congenital anomalies MONDO:0015159 Orphanet:2556 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0010674 mucopolysaccharidosis type 2 MONDO:0010674 Orphanet:580 Orphanet:79388 mucopolysaccharidosis type 2 +MONDO:0010679 Duchenne muscular dystrophy MONDO:0016147 Orphanet:98896 Orphanet:207085 qualitative or quantitative defects of dystrophin +MONDO:0010702 orofaciodigital syndrome I MONDO:0015159 Orphanet:2750 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0010702 orofaciodigital syndrome I MONDO:0015375 Orphanet:2750 Orphanet:140997 orofaciodigital syndrome +MONDO:0010702 orofaciodigital syndrome I MONDO:0019287 Orphanet:2750 Orphanet:79373 ectodermal dysplasia syndrome +MONDO:0010702 orofaciodigital syndrome I MONDO:0021029 Orphanet:2750 Orphanet:183460 hereditary sebaceous gland anomaly +MONDO:0010704 otopalatodigital syndrome type 1 MONDO:0015159 Orphanet:90650 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0010708 Pallister-W syndrome MONDO:0015159 Orphanet:2804 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0010708 Pallister-W syndrome MONDO:0015650 Orphanet:2804 Orphanet:166463 epilepsy syndrome +MONDO:0010711 TARP syndrome MONDO:0015159 Orphanet:2886 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0010726 Rett syndrome MONDO:0015653 Orphanet:778 Orphanet:166472 monogenic epilepsy +MONDO:0010728 SCARF syndrome MONDO:0015159 Orphanet:3134 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0010728 SCARF syndrome MONDO:0015338 Orphanet:3134 Orphanet:139393 syndromic craniosynostosis +MONDO:0010728 SCARF syndrome MONDO:0016175 Orphanet:3134 Orphanet:209 cutis laxa +MONDO:0010729 X-linked intellectual disability, Schimke type MONDO:0015159 Orphanet:85285 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0010731 Simpson-Golabi-Behmel syndrome MONDO:0015159 Orphanet:373 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0010731 Simpson-Golabi-Behmel syndrome MONDO:0015496 Orphanet:373 Orphanet:156207 macroglossia +MONDO:0010749 trigonocephaly-short stature-developmental delay syndrome MONDO:0015159 Orphanet:3369 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0010749 trigonocephaly-short stature-developmental delay syndrome MONDO:0015338 Orphanet:3369 Orphanet:139393 syndromic craniosynostosis +MONDO:0010754 van den Bosch syndrome MONDO:0015159 Orphanet:3417 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0010758 Wieacker-Wolff syndrome MONDO:0015159 Orphanet:3454 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0010758 Wieacker-Wolff syndrome MONDO:0015159 Orphanet:85283 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0010773 mitochondrial myopathy with diabetes MONDO:0015967 Orphanet:2596 Orphanet:183625 monogenic diabetes +MONDO:0010790 MERRF syndrome MONDO:0020074 Orphanet:551 Orphanet:98261 progressive myoclonus epilepsy +MONDO:0010797 Pearson syndrome MONDO:0020099 Orphanet:699 Orphanet:98362 inherited sideroblastic anemia +MONDO:0010802 pancreatic hypoplasia-diabetes-congenital heart disease syndrome MONDO:0015967 Orphanet:2255 Orphanet:183625 monogenic diabetes +MONDO:0010816 Qazi Markouizos syndrome MONDO:0015159 Orphanet:3010 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0010816 Qazi Markouizos syndrome MONDO:0019952 Orphanet:3010 Orphanet:97245 congenital myopathy +MONDO:0010824 disorder of sex development-intellectual disability syndrome MONDO:0015159 Orphanet:2983 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0010826 childhood absence epilepsy MONDO:0017704 Orphanet:64280 Orphanet:309 familial partial epilepsy +MONDO:0010840 pachygyria-intellectual disability-epilepsy syndrome MONDO:0015159 Orphanet:2798 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0010879 CODAS syndrome MONDO:0015159 Orphanet:1458 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0010881 mesomelia-synostoses syndrome MONDO:0019696 Orphanet:2496 Orphanet:93437 acromesomelic dysplasia +MONDO:0010886 2q37 microdeletion syndrome MONDO:0015159 Orphanet:1001 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0010901 HEC syndrome MONDO:0016333 Orphanet:2119 Orphanet:217607 familial dilated cardiomyopathy +MONDO:0010901 HEC syndrome MONDO:0016340 Orphanet:2119 Orphanet:217635 familial restrictive cardiomyopathy +MONDO:0010901 HEC syndrome MONDO:0016345 Orphanet:2119 Orphanet:217720 non-familial restrictive cardiomyopathy +MONDO:0010911 prolactin-producing pituitary gland adenoma MONDO:0003429 Orphanet:2965 Orphanet:314753 functioning pituitary gland adenoma +MONDO:0010932 progressive bifocal chorioretinal atrophy MONDO:0957337 Orphanet:75373 Orphanet:519300 isolated chorioretinal dystrophy +MONDO:0010972 hydrocephalus-costovertebral dysplasia-Sprengel anomaly syndrome MONDO:0015159 Orphanet:2180 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0011010 Matthew-Wood syndrome MONDO:0015159 Orphanet:2470 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0011011 skeletal dysplasia-epilepsy-short stature syndrome MONDO:0015159 Orphanet:1858 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0011018 brachyolmia-amelogenesis imperfecta syndrome MONDO:0015262 Orphanet:2899 Orphanet:1293 brachyolmia +MONDO:0011019 alopecia-intellectual disability-hypergonadotropic hypogonadism syndrome MONDO:0015159 Orphanet:1014 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0011022 Potocki-Shaffer syndrome MONDO:0015159 Orphanet:52022 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0011035 neurofibromatosis-Noonan syndrome MONDO:0019289 Orphanet:638 Orphanet:79375 hyperpigmentation of the skin +MONDO:0011035 neurofibromatosis-Noonan syndrome MONDO:0020297 Orphanet:638 Orphanet:98733 Noonan syndrome and Noonan-related syndrome +MONDO:0011071 hereditary thrombocytopenia and hematologic cancer predisposition syndrome MONDO:0850064 Orphanet:71290 Orphanet:619340 inherited hematologic cancer-predisposing syndrome +MONDO:0011076 myofibrillar myopathy 1 MONDO:0016108 Orphanet:98909 Orphanet:206650 autosomal dominant distal myopathy +MONDO:0011076 myofibrillar myopathy 1 MONDO:0016112 Orphanet:98909 Orphanet:206662 hereditary inclusion-body myopathy +MONDO:0011076 myofibrillar myopathy 1 MONDO:0016340 Orphanet:98909 Orphanet:217635 familial restrictive cardiomyopathy +MONDO:0011078 anterior chamber cleavage disorder, cerebellar hypoplasia, hypothyroidism, and tracheal stenosis MONDO:0850008 Orphanet:2321 Orphanet:519276 anterior segment developmental abnormality with extraocular manifestations +MONDO:0011093 mucopolysaccharidosis type 9 MONDO:0800088 Orphanet:67041 Orphanet:93448 lysosomal storage disease with skeletal involvement +MONDO:0011128 Sheldon-hall syndrome MONDO:0957111 Orphanet:1147 Orphanet:98738 neurological muscular channelopathy due to a genetic sodium channel defect +MONDO:0011134 Curry-Jones syndrome MONDO:0015159 Orphanet:1553 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0011145 colobomatous microphthalmia - obesity - hypogenitalism - intellectual disability syndrome MONDO:0016073 Orphanet:363741 Orphanet:202948 syndromic microphthalmia +MONDO:0011147 chromosome 18q deletion syndrome MONDO:0011147 Orphanet:1600 Orphanet:262146 chromosome 18q deletion syndrome +MONDO:0011150 acroosteolysis-keloid-like lesions-premature aging syndrome MONDO:0015333 Orphanet:363665 Orphanet:139033 progeroid syndrome +MONDO:0011152 PHGDH deficiency MONDO:0035004 Orphanet:79351 Orphanet:583595 serine biosynthesis pathway deficiency, infantile/juvenile form +MONDO:0011157 Gomez-Lopez-Hernandez syndrome MONDO:0015159 Orphanet:1532 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0011202 RHYNS syndrome MONDO:0019741 Orphanet:140976 Orphanet:93587 familial cystic renal disease +MONDO:0011217 desmosterolosis MONDO:0015159 Orphanet:35107 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0011218 autosomal recessive congenital ichthyosis 11 MONDO:0004907 Orphanet:91132 Orphanet:79364 alopecia +MONDO:0011235 pelvic dysplasia-arthrogryposis of lower limbs syndrome MONDO:0019942 Orphanet:2840 Orphanet:97120 distal arthrogryposis +MONDO:0011240 megalencephaly-capillary malformation-polymicrogyria syndrome MONDO:0015159 Orphanet:60040 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0011240 megalencephaly-capillary malformation-polymicrogyria syndrome MONDO:0019293 Orphanet:60040 Orphanet:79379 skin vascular disease +MONDO:0011243 grange syndrome MONDO:0015159 Orphanet:79094 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0011244 Marshall-Smith syndrome MONDO:0015159 Orphanet:561 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0011255 mandibulofacial dysostosis-macroblepharon-macrostomia syndrome MONDO:0020161 Orphanet:357158 Orphanet:98570 congenital ectropion +MONDO:0011261 spondyloepiphyseal dysplasia with coronal craniosynostosis, cataracts, cleft palate, and intellectual disability MONDO:0015159 Orphanet:163649 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0011273 H syndrome MONDO:0015967 Orphanet:168569 Orphanet:183625 monogenic diabetes +MONDO:0011274 Muenke syndrome MONDO:0015159 Orphanet:53271 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0011338 Omenn syndrome MONDO:0018814 Orphanet:39041 Orphanet:480549 non-SCID combined immunodeficiency +MONDO:0011359 acromelic frontonasal dysostosis MONDO:0015159 Orphanet:1827 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0011365 blepharophimosis - intellectual disability syndrome, SBBYS type MONDO:0036042 Orphanet:3047 Orphanet:597749 KAT6B-related multiple congenital anomalies syndrome +MONDO:0011414 Peters anomaly MONDO:0011119 Orphanet:708 Orphanet:98634 iridogoniodysgenesis +MONDO:0011430 pulverulent cataract MONDO:0020377 Orphanet:98984 Orphanet:98992 early-onset partial cataract +MONDO:0011476 MHC class I deficiency MONDO:0018814 Orphanet:34592 Orphanet:480549 non-SCID combined immunodeficiency +MONDO:0011506 familial infantile myoclonic epilepsy MONDO:0020071 Orphanet:352582 Orphanet:98258 infantile epilepsy syndrome +MONDO:0011510 Bohring-Opitz syndrome MONDO:0015338 Orphanet:97297 Orphanet:139393 syndromic craniosynostosis +MONDO:0011537 macrocephaly-autism syndrome MONDO:0015159 Orphanet:210548 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0011604 spondylo-ocular syndrome MONDO:0015159 Orphanet:85194 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0011604 spondylo-ocular syndrome MONDO:0850009 Orphanet:85194 Orphanet:519294 syndromic microspherophakia +MONDO:0011610 dimethylglycine dehydrogenase deficiency MONDO:0019239 Orphanet:243343 Orphanet:79194 inborn disorder of serine family metabolism +MONDO:0011615 East Texas bleeding disorder MONDO:0035742 Orphanet:391320 Orphanet:599519 factor V short isoforms-related bleeding disorder +MONDO:0011640 genitopatellar syndrome MONDO:0036042 Orphanet:85201 Orphanet:597749 KAT6B-related multiple congenital anomalies syndrome +MONDO:0011652 Phelan-McDermid syndrome MONDO:0015159 Orphanet:48652 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0011669 hypotonia-cystinuria syndrome MONDO:0011669 Orphanet:163690 Orphanet:238517 hypotonia-cystinuria syndrome +MONDO:0011669 hypotonia-cystinuria syndrome MONDO:0015962 Orphanet:238517 Orphanet:183592 inherited renal tubular disease +MONDO:0011676 PHACE syndrome MONDO:0015159 Orphanet:42775 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0011686 DNA ligase IV deficiency MONDO:0015159 Orphanet:99812 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0011686 DNA ligase IV deficiency MONDO:0018814 Orphanet:99812 Orphanet:480549 non-SCID combined immunodeficiency +MONDO:0011706 Kufor-Rakeb syndrome MONDO:0020257 Orphanet:306674 Orphanet:98687 supranuclear oculomotor palsy +MONDO:0011723 hemifacial myohyperplasia MONDO:0015496 Orphanet:141148 Orphanet:156207 macroglossia +MONDO:0011758 Hurler syndrome MONDO:0015159 Orphanet:93473 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0011812 Duane-radial ray syndrome MONDO:0015161 Orphanet:959 Orphanet:102285 multiple congenital anomalies/dysmorphic syndrome without intellectual disability +MONDO:0011816 lathosterolosis MONDO:0015159 Orphanet:46059 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0011835 sensory ataxic neuropathy, dysarthria, and ophthalmoparesis MONDO:0020074 Orphanet:402082 Orphanet:98261 progressive myoclonus epilepsy +MONDO:0011841 biotin-responsive basal ganglia disease MONDO:0015653 Orphanet:199348 Orphanet:166472 monogenic epilepsy +MONDO:0011876 juvenile absence epilepsy MONDO:0017704 Orphanet:1941 Orphanet:309 familial partial epilepsy +MONDO:0011882 skin fragility-woolly hair-palmoplantar keratoderma syndrome MONDO:0019287 Orphanet:293165 Orphanet:79373 ectodermal dysplasia syndrome +MONDO:0011899 Noonan syndrome-like disorder with loose anagen hair MONDO:0015159 Orphanet:2701 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0011936 microphthalmia with brain and digit anomalies MONDO:0015159 Orphanet:139471 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0011939 Spondyloenchondrodysplasia with immune dysregulation MONDO:0957408 Orphanet:1855 Orphanet:481671 type 1 interferonopathy of childhood +MONDO:0011957 retinal macular dystrophy type 2 MONDO:0957048 Orphanet:319640 Orphanet:519302 isolated macular dystrophy +MONDO:0011959 sweet syndrome MONDO:0957018 Orphanet:3243 Orphanet:319719 autoinflammatory syndrome of childhood +MONDO:0011976 lipodystrophy-intellectual disability-deafness syndrome MONDO:0015159 Orphanet:50811 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0011976 lipodystrophy-intellectual disability-deafness syndrome MONDO:0015333 Orphanet:50811 Orphanet:139033 progeroid syndrome +MONDO:0011979 adult-onset foveomacular vitelliform dystrophy MONDO:0018973 Orphanet:99000 Orphanet:63454 patterned dystrophy of the retinal pigment epithelium +MONDO:0012013 Weill-Marchesani syndrome 2, dominant MONDO:0850009 Orphanet:2084 Orphanet:519294 syndromic microspherophakia +MONDO:0012016 capillary malformation-arteriovenous malformation syndrome MONDO:0021060 Orphanet:137667 Orphanet:536391 RASopathy +MONDO:0012118 COG7-congenital disorder of glycosylation MONDO:0015159 Orphanet:79333 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0012126 familial avascular necrosis of femoral head MONDO:0022800 Orphanet:86820 Orphanet:93421 type 2 collagenopathy +MONDO:0012137 Carney complex - trismus - pseudocamptodactyly syndrome MONDO:0019289 Orphanet:319340 Orphanet:79375 hyperpigmentation of the skin MONDO:0012161 susceptibility to respiratory infections associated with CD8alpha chain mutation MONDO:0000001 Orphanet:169085 Orphanet:377788 disease +MONDO:0012161 susceptibility to respiratory infections associated with CD8alpha chain mutation MONDO:0018814 Orphanet:169085 Orphanet:480549 non-SCID combined immunodeficiency +MONDO:0012172 mitochondrial trifunctional protein deficiency MONDO:0017713 Orphanet:746 Orphanet:309115 disorder of fatty acid oxidation and ketogenesis +MONDO:0012173 long chain 3-hydroxyacyl-CoA dehydrogenase deficiency MONDO:0017715 Orphanet:5 Orphanet:309127 3-hydroxyacyl-CoA dehydrogenase deficiency +MONDO:0012184 Pierson syndrome MONDO:0850008 Orphanet:2670 Orphanet:519276 anterior segment developmental abnormality with extraocular manifestations +MONDO:0012198 PCWH syndrome MONDO:0019046 Orphanet:163746 Orphanet:68356 leukodystrophy +MONDO:0012198 PCWH syndrome MONDO:0019290 Orphanet:163746 Orphanet:79376 hypopigmentation of the skin +MONDO:0012198 PCWH syndrome MONDO:0020127 Orphanet:163746 Orphanet:98497 hereditary peripheral neuropathy +MONDO:0012208 congenital reticular ichthyosiform erythroderma MONDO:0017266 Orphanet:281190 Orphanet:281103 keratinopathic ichthyosis +MONDO:0012209 branchiogenic deafness syndrome MONDO:0015159 Orphanet:50815 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0012275 fetal valproate syndrome MONDO:0015338 Orphanet:1906 Orphanet:139393 syndromic craniosynostosis +MONDO:0012301 mitochondrial DNA depletion syndrome, myopathic form MONDO:0009637 Orphanet:254875 Orphanet:206966 inborn mitochondrial myopathy +MONDO:0012307 familial scaphocephaly syndrome, McGillivray type MONDO:0015159 Orphanet:168624 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0012308 Joubert syndrome with renal defect MONDO:0015159 Orphanet:220497 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0012308 Joubert syndrome with renal defect MONDO:0015369 Orphanet:220497 Orphanet:140874 Joubert syndrome and related disorders +MONDO:0012308 Joubert syndrome with renal defect MONDO:0019741 Orphanet:220497 Orphanet:93587 familial cystic renal disease +MONDO:0012359 combined immunodeficiency due to partial RAG1 deficiency MONDO:0018814 Orphanet:231154 Orphanet:480549 non-SCID combined immunodeficiency +MONDO:0012382 hyperinsulinemic hypoglycemia, familial, 4 MONDO:0017715 Orphanet:71212 Orphanet:309127 3-hydroxyacyl-CoA dehydrogenase deficiency +MONDO:0012391 neuronal ceroid lipofuscinosis 8 northern epilepsy variant MONDO:0015159 Orphanet:1947 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0012400 cortical dysplasia-focal epilepsy syndrome MONDO:0015650 Orphanet:163681 Orphanet:166463 epilepsy syndrome +MONDO:0012423 MORM syndrome MONDO:0022410 Orphanet:75858 Orphanet:156165 retinal ciliopathy +MONDO:0012436 neonatal diabetes mellitus with congenital hypothyroidism MONDO:0019741 Orphanet:79118 Orphanet:93587 familial cystic renal disease +MONDO:0012496 Koolen-de Vries syndrome MONDO:0015338 Orphanet:96169 Orphanet:139393 syndromic craniosynostosis +MONDO:0012517 Gaucher disease due to saposin C deficiency MONDO:0018150 Orphanet:309252 Orphanet:355 Gaucher disease +MONDO:0012521 herpes simplex encephalitis MONDO:0015979 Orphanet:1930 Orphanet:183710 hereditary predisposition to infections +MONDO:0012574 Potocki-Lupski syndrome MONDO:0015159 Orphanet:1713 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0012589 Pitt-Hopkins syndrome MONDO:0015653 Orphanet:2896 Orphanet:166472 monogenic epilepsy +MONDO:0012596 PSAT deficiency MONDO:0035004 Orphanet:284417 Orphanet:583595 serine biosynthesis pathway deficiency, infantile/juvenile form +MONDO:0012605 isolated microphthalmia 5 MONDO:0016073 Orphanet:251279 Orphanet:202948 syndromic microphthalmia +MONDO:0012611 polyhydramnios, megalencephaly, and symptomatic epilepsy MONDO:0015159 Orphanet:500533 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0012634 craniofacial dysplasia - osteopenia syndrome MONDO:0015159 Orphanet:314555 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0012638 microphthalmia-brain atrophy syndrome MONDO:0015159 Orphanet:77299 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0012650 Cernunnos-XLF deficiency MONDO:0018814 Orphanet:169079 Orphanet:480549 non-SCID combined immunodeficiency MONDO:0012682 immunodeficiency 35 MONDO:0000001 Orphanet:331226 Orphanet:377788 disease +MONDO:0012687 familial cavitary optic disk anomaly MONDO:0850010 Orphanet:464760 Orphanet:519333 congenital optic disk excavation +MONDO:0012721 progressive myoclonic epilepsy type 3 MONDO:0019261 Orphanet:263516 Orphanet:79263 infantile neuronal ceroid lipofuscinosis +MONDO:0012735 Temple-Baraitser syndrome MONDO:0015159 Orphanet:420561 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0012739 microtia-eye coloboma-imperforation of the nasolacrimal duct syndrome MONDO:0850008 Orphanet:139450 Orphanet:519276 anterior segment developmental abnormality with extraocular manifestations +MONDO:0012747 glycogen storage disease due to aldolase A deficiency MONDO:0002412 Orphanet:57 Orphanet:79201 disorder of glycogen metabolism +MONDO:0012794 ANE syndrome MONDO:0004907 Orphanet:157954 Orphanet:79364 alopecia +MONDO:0012817 Ewing sarcoma MONDO:0021054 Orphanet:319 Orphanet:223727 bone sarcoma MONDO:0012839 pyogenic bacterial infections due to MyD88 deficiency MONDO:0000001 Orphanet:183713 Orphanet:377788 disease +MONDO:0012853 Fontaine progeroid syndrome MONDO:0019303 Orphanet:2963 Orphanet:79389 premature aging syndrome +MONDO:0012864 chromosome 2q32-q33 deletion syndrome MONDO:0015159 Orphanet:251019 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0012873 Ehlers-Danlos syndrome, spondylocheirodysplastic type MONDO:0034021 Orphanet:157965 Orphanet:536471 spondylodysplastic Ehlers-Danlos syndrome +MONDO:0012929 Compton-North congenital myopathy MONDO:0015168 Orphanet:210163 Orphanet:1037 arthrogryposis multiplex congenita +MONDO:0012948 chromosome 6pter-p24 deletion syndrome MONDO:0850008 Orphanet:96125 Orphanet:519276 anterior segment developmental abnormality with extraocular manifestations +MONDO:0013047 glycogen storage disease due to lactate dehydrogenase M-subunit deficiency MONDO:0016527 Orphanet:284426 Orphanet:2364 glycogen storage disease due to lactate dehydrogenase deficiency +MONDO:0013081 lymphoproliferative syndrome 1 MONDO:0018814 Orphanet:538963 Orphanet:480549 non-SCID combined immunodeficiency +MONDO:0013115 RIN2 syndrome MONDO:0015159 Orphanet:217335 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0013128 familial juvenile hyperuricemic nephropathy type 2 MONDO:0008264 Orphanet:217330 Orphanet:34149 autosomal dominant medullary cystic kidney disease with or without hyperuricemia +MONDO:0013171 purine nucleoside phosphorylase deficiency MONDO:0018814 Orphanet:760 Orphanet:480549 non-SCID combined immunodeficiency +MONDO:0013172 polymicrogyria with optic nerve hypoplasia MONDO:0015159 Orphanet:250972 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0013176 Weill-Marchesani 4 syndrome, recessive MONDO:0850009 Orphanet:363992 Orphanet:519294 syndromic microspherophakia +MONDO:0013226 combined immunodeficiency with faciooculoskeletal anomalies MONDO:0015159 Orphanet:221139 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0013226 combined immunodeficiency with faciooculoskeletal anomalies MONDO:0015708 Orphanet:221139 Orphanet:169349 immuno-osseous dysplasia +MONDO:0013256 chromosome 15q24 deletion syndrome MONDO:0044699 Orphanet:94065 Orphanet:500163 SIN3A-related intellectual disability syndrome +MONDO:0013268 frontonasal dysplasia with alopecia and genital anomaly MONDO:0004907 Orphanet:228390 Orphanet:79364 alopecia +MONDO:0013268 frontonasal dysplasia with alopecia and genital anomaly MONDO:0015159 Orphanet:228390 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0013308 CBL-related disorder MONDO:0020297 Orphanet:363972 Orphanet:98733 Noonan syndrome and Noonan-related syndrome +MONDO:0013316 occult macular dystrophy MONDO:0957048 Orphanet:247834 Orphanet:519302 isolated macular dystrophy +MONDO:0013352 intellectual disability-severe speech delay-mild dysmorphism syndrome MONDO:0015159 Orphanet:391372 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0013353 intellectual disability, anterior maxillary protrusion, and strabismus MONDO:0015159 Orphanet:562559 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0013357 chromosome 17q11.2 deletion syndrome, 1.4Mb MONDO:0015159 Orphanet:137634 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0013357 chromosome 17q11.2 deletion syndrome, 1.4Mb MONDO:0019716 Orphanet:137634 Orphanet:93460 overgrowth syndrome +MONDO:0013396 chromosome 1p32-p31 deletion syndrome MONDO:0015159 Orphanet:401986 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0013404 hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase MONDO:0015159 Orphanet:88618 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability MONDO:0013427 immunodeficiency 31B MONDO:0000001 Orphanet:391311 Orphanet:377788 disease +MONDO:0013523 Nestor-Guillermo progeria syndrome MONDO:0020087 Orphanet:280576 Orphanet:98305 hereditary lipodystrophy +MONDO:0013531 PSPH deficiency MONDO:0035004 Orphanet:79350 Orphanet:583595 serine biosynthesis pathway deficiency, infantile/juvenile form +MONDO:0013541 complex cortical dysplasia with other brain malformations 1 MONDO:0015159 Orphanet:300570 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0013572 Keppen-Lubinsky syndrome MONDO:0015159 Orphanet:435628 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0013574 cutis laxa - Marfanoid syndrome MONDO:0017310 Orphanet:171719 Orphanet:284993 Marfan and Marfan-related disorder +MONDO:0013599 autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome MONDO:0015979 Orphanet:391487 Orphanet:183710 hereditary predisposition to infections +MONDO:0013673 Wolfram-like syndrome MONDO:0015967 Orphanet:411590 Orphanet:183625 monogenic diabetes +MONDO:0013686 distal myopathy, Tateyama type MONDO:0016146 Orphanet:488650 Orphanet:207078 caveolinopathy +MONDO:0013743 autosomal systemic lupus erythematosus type 16 MONDO:0957408 Orphanet:300345 Orphanet:481671 type 1 interferonopathy of childhood +MONDO:0013767 autoimmune lymphoproliferative syndrome type 4 MONDO:0015757 Orphanet:268114 Orphanet:171898 lymphoid hemopathy +MONDO:0013815 bent bone dysplasia syndrome 1 MONDO:0015338 Orphanet:313855 Orphanet:139393 syndromic craniosynostosis +MONDO:0013863 combined immunodeficiency due to LRBA deficiency MONDO:0015126 Orphanet:445018 Orphanet:101956 polyendocrinopathy +MONDO:0013863 combined immunodeficiency due to LRBA deficiency MONDO:0018814 Orphanet:445018 Orphanet:480549 non-SCID combined immunodeficiency +MONDO:0013873 IMAGe syndrome MONDO:0015514 Orphanet:85173 Orphanet:156643 hereditary endocrine growth disease +MONDO:0013885 Malan overgrowth syndrome MONDO:0015159 Orphanet:420179 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0013894 short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome MONDO:0005308 Orphanet:314394 Orphanet:363250 ciliopathy +MONDO:0013898 karyomegalic interstitial nephritis MONDO:0019741 Orphanet:401996 Orphanet:93587 familial cystic renal disease +MONDO:0013934 combined immunodeficiency due to STK4 deficiency MONDO:0018814 Orphanet:314689 Orphanet:480549 non-SCID combined immunodeficiency MONDO:0013954 Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency MONDO:0000001 Orphanet:319558 Orphanet:377788 disease MONDO:0013955 Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency MONDO:0000001 Orphanet:319552 Orphanet:377788 disease MONDO:0013956 Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency MONDO:0000001 Orphanet:319595 Orphanet:377788 disease MONDO:0013957 Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency MONDO:0000001 Orphanet:319600 Orphanet:377788 disease +MONDO:0013968 PGM1-congenital disorder of glycosylation MONDO:0002412 Orphanet:319646 Orphanet:79201 disorder of glycogen metabolism +MONDO:0013993 pontocerebellar hypoplasia type 7 MONDO:0015159 Orphanet:284339 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0014017 intellectual developmental disorder with autism and macrocephaly MONDO:0000001 Orphanet:642675 Orphanet:377788 disease +MONDO:0014017 intellectual developmental disorder with autism and macrocephaly MONDO:0015159 Orphanet:642675 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0014017 intellectual developmental disorder with autism and macrocephaly MONDO:0019716 Orphanet:642675 Orphanet:93460 overgrowth syndrome +MONDO:0014039 mitochondrial DNA depletion syndrome 11 MONDO:0009637 Orphanet:352447 Orphanet:206966 inborn mitochondrial myopathy +MONDO:0014039 mitochondrial DNA depletion syndrome 11 MONDO:0018121 Orphanet:352447 Orphanet:352456 mitochondrial DNA maintenance syndrome +MONDO:0014044 dysmorphism-conductive hearing loss-heart defect syndrome MONDO:0015159 Orphanet:289553 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0014082 cryptosporidiosis-chronic cholangitis-liver disease syndrome MONDO:0018814 Orphanet:357329 Orphanet:480549 non-SCID combined immunodeficiency +MONDO:0014119 intellectual disability-strabismus syndrome MONDO:0015159 Orphanet:363528 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0014139 Ehlers-Danlos syndrome, spondylodysplastic type, 2 MONDO:0034021 Orphanet:536467 Orphanet:536471 spondylodysplastic Ehlers-Danlos syndrome +MONDO:0014157 mandibular hypoplasia-deafness-progeroid syndrome MONDO:0015333 Orphanet:363649 Orphanet:139033 progeroid syndrome +MONDO:0014157 mandibular hypoplasia-deafness-progeroid syndrome MONDO:0020087 Orphanet:363649 Orphanet:98305 hereditary lipodystrophy +MONDO:0014160 TCR-alpha-beta-positive T-cell deficiency MONDO:0019787 Orphanet:397959 Orphanet:94075 autoimmune enteropathy +MONDO:0014165 multiple congenital anomalies-hypotonia-seizures syndrome 3 MONDO:0015338 Orphanet:369837 Orphanet:139393 syndromic craniosynostosis +MONDO:0014176 hypotonia, infantile, with psychomotor retardation and characteristic facies MONDO:0957111 Orphanet:371364 Orphanet:98738 neurological muscular channelopathy due to a genetic sodium channel defect +MONDO:0014197 combined immunodeficiency due to MALT1 deficiency MONDO:0018814 Orphanet:397964 Orphanet:480549 non-SCID combined immunodeficiency +MONDO:0014218 severe dermatitis-multiple allergies-metabolic wasting syndrome MONDO:0018037 Orphanet:369992 Orphanet:331223 hyper-IgE syndrome +MONDO:0014226 idiopathic CD4 lymphocytopenia MONDO:0018814 Orphanet:228000 Orphanet:480549 non-SCID combined immunodeficiency +MONDO:0014243 Schaaf-Yang syndrome MONDO:0018354 Orphanet:398069 Orphanet:398073 Prader-Willi-like syndrome +MONDO:0014268 combined immunodeficiency due to OX40 deficiency MONDO:0015356 Orphanet:431149 Orphanet:140162 hereditary neoplastic syndrome +MONDO:0014268 combined immunodeficiency due to OX40 deficiency MONDO:0018814 Orphanet:431149 Orphanet:480549 non-SCID combined immunodeficiency +MONDO:0014276 combined immunodeficiency due to CD3gamma deficiency MONDO:0018814 Orphanet:169082 Orphanet:480549 non-SCID combined immunodeficiency +MONDO:0014300 proximal myopathy with extrapyramidal signs MONDO:0024237 Orphanet:401768 Orphanet:183500 inherited neurodegenerative disorder +MONDO:0014306 vasculitis due to ADA2 deficiency MONDO:0957408 Orphanet:404553 Orphanet:481671 type 1 interferonopathy of childhood +MONDO:0014332 hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency MONDO:0019242 Orphanet:401948 Orphanet:79197 inborn disorder of branched-chain amino acid metabolism +MONDO:0014334 severe combined immunodeficiency due to LCK deficiency MONDO:0019787 Orphanet:280142 Orphanet:94075 autoimmune enteropathy +MONDO:0014338 IL21-related infantile inflammatory bowel disease MONDO:0018814 Orphanet:477661 Orphanet:480549 non-SCID combined immunodeficiency +MONDO:0014349 pontocerebellar hypoplasia type 10 MONDO:0015159 Orphanet:411493 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0014353 immunodeficiency 23 MONDO:0018037 Orphanet:443811 Orphanet:331223 hyper-IgE syndrome +MONDO:0014382 Tatton-Brown-Rahman overgrowth syndrome MONDO:0019716 Orphanet:404443 Orphanet:93460 overgrowth syndrome +MONDO:0014399 ataxia-telangiectasia-like disorder 2 MONDO:0015333 Orphanet:438134 Orphanet:139033 progeroid syndrome +MONDO:0014399 ataxia-telangiectasia-like disorder 2 MONDO:0019303 Orphanet:438134 Orphanet:79389 premature aging syndrome +MONDO:0014405 STING-associated vasculopathy with onset in infancy MONDO:0957408 Orphanet:425120 Orphanet:481671 type 1 interferonopathy of childhood +MONDO:0014414 STAT3-related early-onset multisystem autoimmune disease MONDO:0016537 Orphanet:438159 Orphanet:238510 lymphoproliferative syndrome +MONDO:0014414 STAT3-related early-onset multisystem autoimmune disease MONDO:0019098 Orphanet:438159 Orphanet:71203 autoimmune thrombocytopenia +MONDO:0014414 STAT3-related early-onset multisystem autoimmune disease MONDO:0020108 Orphanet:438159 Orphanet:98375 autoimmune hemolytic anemia MONDO:0014429 autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency MONDO:0000001 Orphanet:319581 Orphanet:377788 disease +MONDO:0014495 retinitis pigmentosa-juvenile cataract-short stature-intellectual disability syndrome MONDO:0015159 Orphanet:436245 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability MONDO:0014502 Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency MONDO:0000001 Orphanet:319563 Orphanet:377788 disease +MONDO:0014502 Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency MONDO:0957408 Orphanet:319563 Orphanet:481671 type 1 interferonopathy of childhood +MONDO:0014523 juvenile-onset diabetes mellitus-central and peripheral neurodegeneration syndrome MONDO:0015967 Orphanet:445062 Orphanet:183625 monogenic diabetes +MONDO:0014527 progeroid features-hepatocellular carcinoma predisposition syndrome MONDO:0015333 Orphanet:435953 Orphanet:139033 progeroid syndrome +MONDO:0014541 motor developmental delay due to 14q32.2 paternally expressed gene defect MONDO:0015159 Orphanet:254516 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0014556 congenital contractures of the limbs and face, hypotonia, and developmental delay MONDO:0015159 Orphanet:562528 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0014556 congenital contractures of the limbs and face, hypotonia, and developmental delay MONDO:0019942 Orphanet:562528 Orphanet:97120 distal arthrogryposis +MONDO:0014556 congenital contractures of the limbs and face, hypotonia, and developmental delay MONDO:0957111 Orphanet:562528 Orphanet:98738 neurological muscular channelopathy due to a genetic sodium channel defect +MONDO:0014559 progressive essential tremor-speech impairment-facial dysmorphism-intellectual disability-abnormal behavior syndrome MONDO:0015159 Orphanet:457212 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0014608 mandibulofacial dysostosis with alopecia MONDO:0004907 Orphanet:443995 Orphanet:79364 alopecia +MONDO:0014637 DOCK2 deficiency MONDO:0018814 Orphanet:447737 Orphanet:480549 non-SCID combined immunodeficiency +MONDO:0014645 BENTA disease MONDO:0018814 Orphanet:464336 Orphanet:480549 non-SCID combined immunodeficiency +MONDO:0014707 14q32 duplication syndrome MONDO:0020076 Orphanet:488280 Orphanet:98274 myeloproliferative neoplasm MONDO:0014710 autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency MONDO:0000001 Orphanet:477857 Orphanet:377788 disease +MONDO:0014722 Roifman syndrome MONDO:0015159 Orphanet:353298 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0014722 Roifman syndrome MONDO:0015708 Orphanet:353298 Orphanet:169349 immuno-osseous dysplasia +MONDO:0014723 PMP22-RAI1 contiguous gene duplication syndrome MONDO:0015159 Orphanet:477817 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0014746 SLC39A8-CDG MONDO:0017766 Orphanet:468699 Orphanet:309851 disorder of manganese transport +MONDO:0014747 familial progressive retinal dystrophy-iris coloboma-congenital cataract syndrome MONDO:0011119 Orphanet:488197 Orphanet:98634 iridogoniodysgenesis +MONDO:0014760 TFRC-related combined immunodeficiency MONDO:0018814 Orphanet:476113 Orphanet:480549 non-SCID combined immunodeficiency +MONDO:0014778 Lamb-Shaffer syndrome MONDO:0015159 Orphanet:530983 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0014791 Luscan-Lumish syndrome MONDO:0015159 Orphanet:597738 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0014791 Luscan-Lumish syndrome MONDO:0019716 Orphanet:597738 Orphanet:93460 overgrowth syndrome +MONDO:0014809 DDX41-related hematologic malignancy predisposition syndrome MONDO:0850064 Orphanet:488647 Orphanet:619340 inherited hematologic cancer-predisposing syndrome +MONDO:0014821 complex lethal osteochondrodysplasia MONDO:0005308 Orphanet:457378 Orphanet:363250 ciliopathy +MONDO:0014857 neurodevelopmental disorder with or without anomalies of the brain, eye, or heart MONDO:0015159 Orphanet:494344 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0014867 spinocerebellar ataxia 43 MONDO:0019792 Orphanet:497764 Orphanet:94145 autosomal dominant cerebellar ataxia type I +MONDO:0014870 NEK9-related lethal skeletal dysplasia MONDO:0005308 Orphanet:464366 Orphanet:363250 ciliopathy +MONDO:0014888 MIRAGE syndrome MONDO:0015514 Orphanet:494433 Orphanet:156643 hereditary endocrine growth disease +MONDO:0014888 MIRAGE syndrome MONDO:0015898 Orphanet:494433 Orphanet:181412 adrenogenital syndrome +MONDO:0014890 PERCHING syndrome MONDO:0015159 Orphanet:603684 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0015014 coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, and deafness MONDO:0016073 Orphanet:603494 Orphanet:202948 syndromic microphthalmia +MONDO:0015014 coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, and deafness MONDO:0017198 Orphanet:603494 Orphanet:2781 osteopetrosis +MONDO:0015014 coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, and deafness MONDO:0017305 Orphanet:603494 Orphanet:284811 syndromic oculocutaneous albinism +MONDO:0015017 anterior segment dysgenesis 8 MONDO:0011119 Orphanet:519388 Orphanet:98634 iridogoniodysgenesis +MONDO:0015028 48,XXYY syndrome MONDO:0015159 Orphanet:10 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0015055 acquired angioedema type 2 MONDO:0033948 Orphanet:100055 Orphanet:528663 acquired angioedema with C1Inh deficiency +MONDO:0015056 acquired angioedema type 1 MONDO:0033948 Orphanet:100056 Orphanet:528663 acquired angioedema with C1Inh deficiency +MONDO:0015061 neurogenic thoracic outlet syndrome MONDO:0015923 Orphanet:100073 Orphanet:182086 acquired peripheral neuropathy +MONDO:0015198 aniridia-ptosis-intellectual disability-familial obesity syndrome MONDO:0015159 Orphanet:1067 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0015199 aniridia - intellectual disability syndrome MONDO:0015159 Orphanet:1068 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0015201 ankyloblepharon filiforme-imperforate anus syndrome MONDO:0007124 Orphanet:1074 Orphanet:1071 ankyloblepharon-ectodermal defects-cleft lip/palate syndrome +MONDO:0015229 Bardet-Biedl syndrome MONDO:0015159 Orphanet:110 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0015229 Bardet-Biedl syndrome MONDO:0019741 Orphanet:110 Orphanet:93587 familial cystic renal disease +MONDO:0015235 arachnodactyly-intellectual disability-dysmorphism syndrome MONDO:0015159 Orphanet:1130 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0015240 digitotalar dysmorphism MONDO:0957111 Orphanet:1146 Orphanet:98738 neurological muscular channelopathy due to a genetic sodium channel defect +MONDO:0015253 Diamond-Blackfan anemia MONDO:0019236 Orphanet:124 Orphanet:79191 inborn disorder of purine metabolism +MONDO:0015267 Feingold syndrome MONDO:0015159 Orphanet:1305 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0015279 chronic mucocutaneous candidiasis MONDO:0015979 Orphanet:1334 Orphanet:183710 hereditary predisposition to infections +MONDO:0015285 Carney complex MONDO:0015079 Orphanet:1359 Orphanet:100094 multiple polyglandular tumor +MONDO:0015285 Carney complex MONDO:0019289 Orphanet:1359 Orphanet:79375 hyperpigmentation of the skin +MONDO:0015285 Carney complex MONDO:0021227 Orphanet:1359 Orphanet:100091 adrenal gland neoplasm +MONDO:0015290 neurotrophic keratopathy MONDO:0023865 Orphanet:137596 Orphanet:519278 corneal infection +MONDO:0015307 Madras motor neuron disease MONDO:0024257 Orphanet:137867 Orphanet:98505 hereditary motor neuron disease +MONDO:0015316 congenital laryngeal palsy MONDO:0015923 Orphanet:137932 Orphanet:182086 acquired peripheral neuropathy +MONDO:0015350 17q11.2 microduplication syndrome MONDO:0015159 Orphanet:139474 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0015431 ring chromosome 10 MONDO:0015159 Orphanet:1438 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0015452 Coffin-Siris syndrome MONDO:0015338 Orphanet:1465 Orphanet:139393 syndromic craniosynostosis +MONDO:0015518 infantile bilateral striatal necrosis MONDO:0024237 Orphanet:1576 Orphanet:183500 inherited neurodegenerative disorder +MONDO:0015538 indeterminate dendritic cell tumor MONDO:0020082 Orphanet:158019 Orphanet:98289 dendritic cell tumor +MONDO:0015541 hereditary hemophagocytic lymphohistiocytosis MONDO:0015541 Orphanet:540 Orphanet:158038 hereditary hemophagocytic lymphohistiocytosis +MONDO:0015552 acral dystrophic epidermolysis bullosa MONDO:0035349 Orphanet:158673 Orphanet:595356 localized dystrophic epidermolysis bullosa +MONDO:0015553 dystrophic epidermolysis bullosa, nails only MONDO:0035349 Orphanet:158676 Orphanet:595356 localized dystrophic epidermolysis bullosa +MONDO:0015564 Castleman disease MONDO:0015757 Orphanet:160 Orphanet:171898 lymphoid hemopathy +MONDO:0015583 2p21 microdeletion syndrome MONDO:0011669 Orphanet:163693 Orphanet:238517 hypotonia-cystinuria syndrome +MONDO:0015600 X-linked intellectual disability, Cilliers type MONDO:0015159 Orphanet:163971 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0015601 X-linked intellectual disability, van Esch type MONDO:0015159 Orphanet:163976 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0015608 acute myeloid leukemia and myelodysplastic syndromes related to radiation MONDO:0043459 Orphanet:164726 Orphanet:521132 radiation-induced disorder +MONDO:0015612 Dent disease MONDO:0000044 Orphanet:1652 Orphanet:437 hereditary hypophosphatemic rickets +MONDO:0015634 isolated osteopoikilosis MONDO:0017198 Orphanet:166119 Orphanet:2781 osteopetrosis +MONDO:0015674 late infantile neuronal ceroid lipofuscinosis MONDO:0016295 Orphanet:168491 Orphanet:216 neuronal ceroid lipofuscinosis +MONDO:0015674 late infantile neuronal ceroid lipofuscinosis MONDO:0020074 Orphanet:168491 Orphanet:98261 progressive myoclonus epilepsy +MONDO:0015691 hypereosinophilic syndrome MONDO:0020076 Orphanet:168956 Orphanet:98274 myeloproliferative neoplasm +MONDO:0015705 autosomal recessive centronuclear myopathy MONDO:0957115 Orphanet:169186 Orphanet:98742 neurological muscular channelopathy due to a genetic ryanodine receptor defect +MONDO:0015722 congenital vitamin K-dependent coagulation factors deficiency MONDO:0015722 Orphanet:98434 Orphanet:169826 congenital vitamin K-dependent coagulation factors deficiency +MONDO:0015736 intermediate nemaline myopathy MONDO:0018958 Orphanet:171433 Orphanet:607 nemaline myopathy +MONDO:0015745 microcephaly-polymicrogyria-corpus callosum agenesis syndrome MONDO:0015159 Orphanet:171703 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0015780 dyskeratosis congenita MONDO:0001713 Orphanet:1775 Orphanet:68383 inherited aplastic anemia +MONDO:0015780 dyskeratosis congenita MONDO:0016382 Orphanet:1775 Orphanet:222628 hereditary poikiloderma +MONDO:0015780 dyskeratosis congenita MONDO:0019289 Orphanet:1775 Orphanet:79375 hyperpigmentation of the skin +MONDO:0015780 dyskeratosis congenita MONDO:0850007 Orphanet:1775 Orphanet:519274 syndromic lacrimal system disorder +MONDO:0015793 moderate multiminicore disease with hand involvement MONDO:0957115 Orphanet:178145 Orphanet:98742 neurological muscular channelopathy due to a genetic ryanodine receptor defect +MONDO:0015864 mixed germ cell tumor MONDO:0020539 Orphanet:180234 Orphanet:99913 extragonadal non-dysgerminomatous germ cell tumor +MONDO:0015883 hidrotic ectodermal dysplasia, Halal type MONDO:0015159 Orphanet:1809 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0015942 frontometaphyseal dysplasia MONDO:0015159 Orphanet:1826 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0015995 melorheostosis with osteopoikilosis MONDO:0017198 Orphanet:1879 Orphanet:2781 osteopetrosis +MONDO:0015997 ectopia lentis-chorioretinal dystrophy-myopia syndrome MONDO:0957337 Orphanet:1884 Orphanet:519300 isolated chorioretinal dystrophy +MONDO:0015998 isolated ectopia lentis MONDO:0017310 Orphanet:1885 Orphanet:284993 Marfan and Marfan-related disorder +MONDO:0016006 Cockayne syndrome MONDO:0015159 Orphanet:191 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0016006 Cockayne syndrome MONDO:0024237 Orphanet:191 Orphanet:183500 inherited neurodegenerative disorder +MONDO:0016018 diabetic embryopathy MONDO:0016330 Orphanet:1926 Orphanet:217598 non-familial hypertrophic cardiomyopathy +MONDO:0016018 diabetic embryopathy MONDO:0019716 Orphanet:1926 Orphanet:93460 overgrowth syndrome +MONDO:0016022 early myoclonic encephalopathy MONDO:0020070 Orphanet:1935 Orphanet:98257 neonatal epilepsy syndrome +MONDO:0016056 isolated congenital microcephaly MONDO:0957008 Orphanet:199642 Orphanet:269553 hereditary cerebral malformation +MONDO:0016063 Cowden disease MONDO:0015185 Orphanet:201 Orphanet:104010 intestinal polyposis syndrome +MONDO:0016063 Cowden disease MONDO:0017623 Orphanet:201 Orphanet:306498 PTEN hamartoma tumor syndrome +MONDO:0016088 hypoxanthine-guanine phosphoribosyltransferase deficiency MONDO:0020112 Orphanet:206428 Orphanet:98415 vitamin B12- and folate-independent constitutional megaloblastic anemia +MONDO:0016097 symptomatic form of muscular dystrophy of Duchenne and Becker in female carriers MONDO:0016147 Orphanet:206546 Orphanet:207085 qualitative or quantitative defects of dystrophin +MONDO:0016113 bulbospinal muscular atrophy MONDO:0024257 Orphanet:206701 Orphanet:98505 hereditary motor neuron disease +MONDO:0016163 autosomal dominant cerebellar ataxia type II MONDO:0016163 Orphanet:94147 Orphanet:208508 autosomal dominant cerebellar ataxia type II +MONDO:0016163 autosomal dominant cerebellar ataxia type II MONDO:0020257 Orphanet:94147 Orphanet:98687 supranuclear oculomotor palsy +MONDO:0016238 solitary fibrous tumor MONDO:0018078 Orphanet:2126 Orphanet:3394 soft tissue sarcoma +MONDO:0016263 primitive neuroectodermal tumor of the corpus uteri MONDO:0005210 Orphanet:213630 Orphanet:213620 uterine corpus sarcoma +MONDO:0016292 nodular neuronal heterotopia MONDO:0015159 Orphanet:2149 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0016318 progressive multifocal leukoencephalopathy MONDO:0006009 Orphanet:217260 Orphanet:98252 viral encephalitis +MONDO:0016354 xeroderma pigmentosum-Cockayne syndrome complex MONDO:0015333 Orphanet:220295 Orphanet:139033 progeroid syndrome +MONDO:0016354 xeroderma pigmentosum-Cockayne syndrome complex MONDO:0019303 Orphanet:220295 Orphanet:79389 premature aging syndrome +MONDO:0016364 Joubert syndrome with ocular defect MONDO:0015159 Orphanet:220493 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0016364 Joubert syndrome with ocular defect MONDO:0022410 Orphanet:220493 Orphanet:156165 retinal ciliopathy +MONDO:0016366 maternal phenylketonuria MONDO:0015159 Orphanet:2209 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0016385 hypogonadism-mitral valve prolapse-intellectual disability syndrome MONDO:0015159 Orphanet:2233 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0016414 hypotrichosis-intellectual disability, Lopes type MONDO:0015159 Orphanet:2266 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0016414 hypotrichosis-intellectual disability, Lopes type MONDO:0019287 Orphanet:2266 Orphanet:79373 ectodermal dysplasia syndrome +MONDO:0016457 ptosis-upper ocular movement limitation-absence of lacrimal punctum syndrome MONDO:0850007 Orphanet:228396 Orphanet:519274 syndromic lacrimal system disorder +MONDO:0016459 2q23.1 microdeletion syndrome MONDO:0015159 Orphanet:228402 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0016460 polyvalvular heart disease syndrome MONDO:0015159 Orphanet:228410 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0016512 Kabuki syndrome MONDO:0020161 Orphanet:2322 Orphanet:98570 congenital ectropion +MONDO:0016515 Kallmann syndrome-heart disease syndrome MONDO:0015159 Orphanet:2326 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0016525 familial hyperaldosteronism MONDO:0016525 Orphanet:235936 Orphanet:371861 familial hyperaldosteronism +MONDO:0016526 trisomy 9p MONDO:0016526 Orphanet:236 Orphanet:262767 trisomy 9p +MONDO:0016537 lymphoproliferative syndrome MONDO:0015356 Orphanet:238510 Orphanet:140162 hereditary neoplastic syndrome +MONDO:0016554 neonatal iodine exposure MONDO:0016556 Orphanet:238688 Orphanet:238699 transient congenital hypothyroidism due to neonatal factor +MONDO:0016584 mandibuloacral dysplasia MONDO:0015333 Orphanet:2457 Orphanet:139033 progeroid syndrome +MONDO:0016593 acquired ataxia MONDO:0000437 Orphanet:247242 Orphanet:102002 cerebellar ataxia +MONDO:0016594 superficial siderosis MONDO:0016593 Orphanet:247245 Orphanet:247242 acquired ataxia +MONDO:0016596 hyperphosphatasia-intellectual disability syndrome MONDO:0015159 Orphanet:247262 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0016614 autosomal recessive ataxia due to PEX10 deficiency MONDO:0019053 Orphanet:247815 Orphanet:68373 peroxisomal disease +MONDO:0016620 primary hypertrophic osteoarthropathy MONDO:0016620 Orphanet:2796 Orphanet:248095 primary hypertrophic osteoarthropathy +MONDO:0016620 primary hypertrophic osteoarthropathy MONDO:0021154 Orphanet:2796 Orphanet:79381 dermis disorder +MONDO:0016653 2q33.1 microdeletion syndrome MONDO:0100147 Orphanet:251028 Orphanet:576278 SATB2 associated disorder +MONDO:0016660 autosomal recessive primary microcephaly MONDO:0015159 Orphanet:2512 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0016661 infantile onset panniculitis with uveitis and systemic granulomatosis MONDO:0957405 Orphanet:251304 Orphanet:324950 granulomatous autoinflammatory syndrome of childhood +MONDO:0016751 malignant perineurioma MONDO:0017827 Orphanet:252128 Orphanet:3148 malignant peripheral nerve sheath tumor +MONDO:0016758 microcephaly-brain defect-spasticity-hypernatremia syndrome MONDO:0015159 Orphanet:2523 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0016781 maternal 14q32.2 microdeletion syndrome MONDO:0016912 Orphanet:254528 Orphanet:262110 partial deletion of the long arm of chromosome 14 +MONDO:0016833 14q12 microdeletion syndrome MONDO:0035383 Orphanet:261144 Orphanet:561854 FOXG1 syndrome +MONDO:0016845 21q22.11q22.12 microdeletion syndrome MONDO:0015159 Orphanet:261323 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0016845 21q22.11q22.12 microdeletion syndrome MONDO:0018795 Orphanet:261323 Orphanet:477794 syndromic constitutional thrombocytopenia +MONDO:0016991 acute necrotizing encephalopathy of childhood MONDO:0006009 Orphanet:263524 Orphanet:98252 viral encephalitis +MONDO:0017042 thanatophoric dysplasia MONDO:0015338 Orphanet:2655 Orphanet:139393 syndromic craniosynostosis +MONDO:0017089 isolated megalencephaly MONDO:0957008 Orphanet:268920 Orphanet:269553 hereditary cerebral malformation +MONDO:0017103 encephaloclastic disorder MONDO:0957008 Orphanet:269190 Orphanet:269553 hereditary cerebral malformation +MONDO:0017190 sporadic pheochromocytoma/secreting paraganglioma MONDO:0035540 Orphanet:276621 Orphanet:573163 pheochromocytoma-paraganglioma +MONDO:0017193 symptomatic form of Coffin-Lowry syndrome in female carriers MONDO:0015159 Orphanet:276630 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0017196 osteogenesis imperfecta-retinopathy-seizures-intellectual disability syndrome MONDO:0015159 Orphanet:2773 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0017279 young-onset Parkinson disease MONDO:0015914 Orphanet:2828 Orphanet:182058 primary orthostatic hypotension +MONDO:0017279 young-onset Parkinson disease MONDO:0021272 Orphanet:2828 Orphanet:448426 inherited orthostatic hypotension +MONDO:0017287 IgG4-related disease MONDO:0017287 Orphanet:596448 Orphanet:284264 IgG4-related disease +MONDO:0017364 POEMS syndrome MONDO:0004959 Orphanet:2905 Orphanet:98282 plasma cell neoplasm +MONDO:0017365 hereditary acrokeratotic poikiloderma, Weary type MONDO:0016382 Orphanet:2907 Orphanet:222628 hereditary poikiloderma +MONDO:0017366 hereditary pheochromocytoma-paraganglioma MONDO:0035540 Orphanet:29072 Orphanet:573163 pheochromocytoma-paraganglioma +MONDO:0017379 polyneuropathy-intellectual disability-acromicria-premature menopause syndrome MONDO:0015159 Orphanet:2928 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0017398 3MC syndrome MONDO:0015338 Orphanet:293843 Orphanet:139393 syndromic craniosynostosis +MONDO:0017417 renal-hepatic-pancreatic dysplasia MONDO:0019741 Orphanet:294415 Orphanet:93587 familial cystic renal disease +MONDO:0017443 congenital absence of both forearm and hand MONDO:0850030 Orphanet:294979 Orphanet:498491 complete hemimelia +MONDO:0017444 congenital absence of both lower leg and foot MONDO:0850030 Orphanet:294981 Orphanet:498491 complete hemimelia +MONDO:0017569 de Barsy syndrome MONDO:0015159 Orphanet:2962 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0017569 de Barsy syndrome MONDO:0016175 Orphanet:2962 Orphanet:209 cutis laxa +MONDO:0017569 de Barsy syndrome MONDO:0017355 Orphanet:2962 Orphanet:289866 inborn disorder of proline metabolism +MONDO:0017575 mitochondrial neurogastrointestinal encephalomyopathy MONDO:0018121 Orphanet:298 Orphanet:352456 mitochondrial DNA maintenance syndrome +MONDO:0017607 caudal regression sequence MONDO:0018639 Orphanet:3027 Orphanet:444941 caudal regression-sirenomelia spectrum +MONDO:0017703 disorder of glyoxylate metabolism MONDO:0019214 Orphanet:308998 Orphanet:79161 inborn carbohydrate metabolic disorder +MONDO:0017746 atypical Rett syndrome MONDO:0015653 Orphanet:3095 Orphanet:166472 monogenic epilepsy +MONDO:0017768 reflex epilepsy MONDO:0020072 Orphanet:310 Orphanet:98259 childhood-onset epilepsy syndrome +MONDO:0017768 reflex epilepsy MONDO:0020073 Orphanet:310 Orphanet:98260 adolescent-onset epilepsy syndrome +MONDO:0017778 lamellar ichthyosis MONDO:0017265 Orphanet:313 Orphanet:281097 autosomal recessive congenital ichthyosis +MONDO:0017781 12p12.1 microdeletion syndrome MONDO:0014778 Orphanet:313884 Orphanet:530983 Lamb-Shaffer syndrome +MONDO:0017782 developmental and speech delay due to SOX5 deficiency MONDO:0014778 Orphanet:313892 Orphanet:530983 Lamb-Shaffer syndrome +MONDO:0017786 2q23.1 microduplication syndrome MONDO:0015159 Orphanet:313947 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0017807 growing teratoma syndrome MONDO:0020539 Orphanet:314613 Orphanet:99913 extragonadal non-dysgerminomatous germ cell tumor +MONDO:0017818 lethal arteriopathy syndrome due to fibulin-4 deficiency MONDO:0016175 Orphanet:314718 Orphanet:209 cutis laxa +MONDO:0017842 Senior-Loken syndrome MONDO:0019741 Orphanet:3156 Orphanet:93587 familial cystic renal disease +MONDO:0017851 erythrokeratodermia variabilis MONDO:0017681 Orphanet:316 Orphanet:308166 erythrokeratoderma variabilis progressiva +MONDO:0017851 erythrokeratodermia variabilis MONDO:0017681 Orphanet:317 Orphanet:308166 erythrokeratoderma variabilis progressiva +MONDO:0017864 congenital pulmonary veins atresia or stenosis MONDO:0020295 Orphanet:3188 Orphanet:98729 congenital pulmonary veins anomaly +MONDO:0017868 diencephalic-mesencephalic junction dysplasia MONDO:0957008 Orphanet:319192 Orphanet:269553 hereditary cerebral malformation +MONDO:0017893 inherited acute myeloid leukemia MONDO:0850064 Orphanet:319465 Orphanet:619340 inherited hematologic cancer-predisposing syndrome MONDO:0017900 autosomal recessive Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR2 deficiency MONDO:0000001 Orphanet:319547 Orphanet:377788 disease MONDO:0017901 autosomal recessive Mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency MONDO:0000001 Orphanet:319569 Orphanet:377788 disease MONDO:0017902 autosomal recessive Mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR2 deficiency MONDO:0000001 Orphanet:319574 Orphanet:377788 disease MONDO:0017903 autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR2 deficiency MONDO:0000001 Orphanet:319589 Orphanet:377788 disease MONDO:0017905 X-linked Mendelian susceptibility to mycobacterial diseases MONDO:0000001 Orphanet:319605 Orphanet:377788 disease +MONDO:0017918 white matter hypoplasia-corpus callosum agenesis-intellectual disability syndrome MONDO:0015159 Orphanet:3207 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0017926 multiple paragangliomas associated with polycythemia MONDO:0005571 Orphanet:324299 Orphanet:98427 polycythemia +MONDO:0017926 multiple paragangliomas associated with polycythemia MONDO:0035540 Orphanet:324299 Orphanet:573163 pheochromocytoma-paraganglioma +MONDO:0017928 9p13 microdeletion syndrome MONDO:0015159 Orphanet:324313 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0017933 hypertrophic cardiomyopathy and renal tubular disease due to mitochondrial DNA mutation MONDO:0015962 Orphanet:324525 Orphanet:183592 inherited renal tubular disease +MONDO:0017936 benign Samaritan congenital myopathy MONDO:0957115 Orphanet:324581 Orphanet:98742 neurological muscular channelopathy due to a genetic ryanodine receptor defect +MONDO:0017942 Hendra virus infection MONDO:0006009 Orphanet:324632 Orphanet:98252 viral encephalitis +MONDO:0017953 hereditary periodic fever syndrome MONDO:0957403 Orphanet:324924 Orphanet:324939 periodic fever syndrome of childhood +MONDO:0017979 autoimmune lymphoproliferative syndrome MONDO:0015757 Orphanet:3261 Orphanet:171898 lymphoid hemopathy +MONDO:0018021 hypotrichosis-deafness syndrome MONDO:0004907 Orphanet:330029 Orphanet:79364 alopecia +MONDO:0018021 hypotrichosis-deafness syndrome MONDO:0017681 Orphanet:330029 Orphanet:308166 erythrokeratoderma variabilis progressiva +MONDO:0018030 tetrasomy 9p MONDO:0016526 Orphanet:3310 Orphanet:262767 trisomy 9p +MONDO:0018045 Hoyeraal-Hreidarsson syndrome MONDO:0001713 Orphanet:3322 Orphanet:68383 inherited aplastic anemia +MONDO:0018065 isolated trigonocephaly MONDO:0850072 Orphanet:3366 Orphanet:620096 non-syndromic unisutural craniosynostosis +MONDO:0018067 triploidy MONDO:0043009 Orphanet:3376 Orphanet:471383 hereditary lethal multiple congenital anomalies/dysmorphic syndrome +MONDO:0018094 Waardenburg syndrome MONDO:0019290 Orphanet:3440 Orphanet:79376 hypopigmentation of the skin +MONDO:0018096 Weill-Marchesani syndrome MONDO:0850009 Orphanet:3449 Orphanet:519294 syndromic microspherophakia +MONDO:0018097 West syndrome MONDO:0020071 Orphanet:3451 Orphanet:98258 infantile epilepsy syndrome +MONDO:0018105 Wolfram syndrome MONDO:0015967 Orphanet:3463 Orphanet:183625 monogenic diabetes +MONDO:0018123 intellectual disability-obesity-brain malformations-facial dysmorphism syndrome MONDO:0015159 Orphanet:352530 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0018125 focal epilepsy-intellectual disability-cerebro-cerebellar malformation MONDO:0015159 Orphanet:352587 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0018126 progressive myoclonic epilepsy with dystonia MONDO:0015653 Orphanet:352596 Orphanet:166472 monogenic epilepsy +MONDO:0018149 GM1 gangliosidosis MONDO:0800088 Orphanet:354 Orphanet:93448 lysosomal storage disease with skeletal involvement +MONDO:0018158 mitochondrial DNA depletion syndrome MONDO:0018121 Orphanet:35698 Orphanet:352456 mitochondrial DNA maintenance syndrome +MONDO:0018163 autosomal recessive cutis laxa type 2A MONDO:0017752 Orphanet:357058 Orphanet:309778 defect in V-ATPase +MONDO:0018169 morning glory syndrome MONDO:0850010 Orphanet:35737 Orphanet:519333 congenital optic disk excavation +MONDO:0018205 distal monosomy 1q MONDO:0015159 Orphanet:36367 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0018214 generalized epilepsy with febrile seizures plus MONDO:0017704 Orphanet:36387 Orphanet:309 familial partial epilepsy +MONDO:0018214 generalized epilepsy with febrile seizures plus MONDO:0020071 Orphanet:36387 Orphanet:98258 infantile epilepsy syndrome +MONDO:0018271 peripheral primitive neuroectodermal tumor MONDO:0018078 Orphanet:370348 Orphanet:3394 soft tissue sarcoma +MONDO:0018271 peripheral primitive neuroectodermal tumor MONDO:0021054 Orphanet:370348 Orphanet:223727 bone sarcoma +MONDO:0018304 Schnitzler syndrome MONDO:0015158 Orphanet:37748 Orphanet:102237 unexplained periodic fever syndrome +MONDO:0018305 chronic granulomatous disease MONDO:0015978 Orphanet:379 Orphanet:183681 functional neutrophil defect +MONDO:0018320 primary microcephaly-mild intellectual disability-young-onset diabetes syndrome MONDO:0015159 Orphanet:391408 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0018320 primary microcephaly-mild intellectual disability-young-onset diabetes syndrome MONDO:0015967 Orphanet:391408 Orphanet:183625 monogenic diabetes +MONDO:0018341 3q27.3 microdeletion syndrome MONDO:0016902 Orphanet:397695 Orphanet:262019 partial deletion of the long arm of chromosome 3 +MONDO:0018346 ferro-cerebro-cutaneous syndrome MONDO:0017748 Orphanet:397922 Orphanet:309515 inborn disorder of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation +MONDO:0018347 severe intellectual disability-progressive postnatal microcephaly- midline stereotypic hand movements syndrome MONDO:0015653 Orphanet:397933 Orphanet:166472 monogenic epilepsy +MONDO:0018354 Prader-Willi-like syndrome MONDO:0015159 Orphanet:398073 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0018419 autosomal recessive spastic paraplegia type 67 MONDO:0017748 Orphanet:401820 Orphanet:309515 inborn disorder of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation +MONDO:0018448 clear cell papillary renal cell carcinoma MONDO:0005005 Orphanet:404511 Orphanet:319276 clear cell renal carcinoma +MONDO:0018472 familial isolated trichomegaly MONDO:0019278 Orphanet:411788 Orphanet:79363 hair anomaly +MONDO:0018493 malignant hyperthermia of anesthesia MONDO:0957115 Orphanet:423 Orphanet:98742 neurological muscular channelopathy due to a genetic ryanodine receptor defect +MONDO:0018528 congenital myopathy with myasthenic-like onset MONDO:0957115 Orphanet:424107 Orphanet:98742 neurological muscular channelopathy due to a genetic ryanodine receptor defect +MONDO:0018540 PFAPA syndrome MONDO:0015158 Orphanet:42642 Orphanet:102237 unexplained periodic fever syndrome +MONDO:0018543 autosomal dominant hypocalcemia MONDO:0015653 Orphanet:428 Orphanet:166472 monogenic epilepsy +MONDO:0018544 adrenoleukodystrophy MONDO:0019233 Orphanet:43 Orphanet:79188 disorder of peroxisomal beta oxidation +MONDO:0018555 hypogonadotropic hypogonadism MONDO:0016553 Orphanet:432 Orphanet:238666 isolated congenital hypogonadotropic hypogonadism +MONDO:0018569 X-linked microcephaly-growth retardation-prognathism-cryptorchidism syndrome MONDO:0015159 Orphanet:435938 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0018571 contractures-developmental delay-Pierre Robin syndrome MONDO:0015159 Orphanet:436003 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0018608 pure autonomic failure MONDO:0015914 Orphanet:441 Orphanet:182058 primary orthostatic hypotension +MONDO:0018616 central serous chorioretinopathy MONDO:0957337 Orphanet:443079 Orphanet:519300 isolated chorioretinal dystrophy +MONDO:0018631 Marie Unna hereditary hypotrichosis MONDO:0004907 Orphanet:444 Orphanet:79364 alopecia MONDO:0018643 susceptibility to localized juvenile periodontitis MONDO:0000001 Orphanet:447740 Orphanet:377788 disease +MONDO:0018643 susceptibility to localized juvenile periodontitis MONDO:0015978 Orphanet:447740 Orphanet:183681 functional neutrophil defect +MONDO:0018657 pigmentation defects-palmoplantar keratoderma-skin carcinoma syndrome MONDO:0004907 Orphanet:447961 Orphanet:79364 alopecia +MONDO:0018657 pigmentation defects-palmoplantar keratoderma-skin carcinoma syndrome MONDO:0015356 Orphanet:447961 Orphanet:140162 hereditary neoplastic syndrome +MONDO:0018657 pigmentation defects-palmoplantar keratoderma-skin carcinoma syndrome MONDO:0019287 Orphanet:447961 Orphanet:79373 ectodermal dysplasia syndrome +MONDO:0018657 pigmentation defects-palmoplantar keratoderma-skin carcinoma syndrome MONDO:0019288 Orphanet:447961 Orphanet:79374 skin pigmentation disorder +MONDO:0018677 visceral heterotaxy MONDO:0018677 Orphanet:157769 Orphanet:450 visceral heterotaxy +MONDO:0018686 acquired Creutzfeldt-Jakob disease MONDO:0035562 Orphanet:454700 Orphanet:576360 acquired human prion disease +MONDO:0018705 infantile-onset axonal motor and sensory neuropathy-optic atrophy-neurodegenerative syndrome MONDO:0015159 Orphanet:457205 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0018740 drug-induced methemoglobinemia MONDO:0019050 Orphanet:464453 Orphanet:68364 inherited hemoglobinopathy +MONDO:0018767 severe primary trimethylaminuria MONDO:0019189 Orphanet:468726 Orphanet:79062 inborn disorder of amino acid and other organic acid metabolism +MONDO:0018770 Jeune syndrome MONDO:0022410 Orphanet:474 Orphanet:156165 retinal ciliopathy +MONDO:0018772 Joubert syndrome MONDO:0015159 Orphanet:475 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0018772 Joubert syndrome MONDO:0015369 Orphanet:475 Orphanet:140874 Joubert syndrome and related disorders +MONDO:0018780 congenital generalized hypercontractile muscle stiffness syndrome MONDO:0017303 Orphanet:476406 Orphanet:284790 qualitative or quantitative defects of tropomyosin +MONDO:0018800 Kallmann syndrome MONDO:0016553 Orphanet:478 Orphanet:238666 isolated congenital hypogonadotropic hypogonadism +MONDO:0018821 X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability MONDO:0015159 Orphanet:480880 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0018827 familial chilblain lupus MONDO:0957408 Orphanet:481662 Orphanet:481671 type 1 interferonopathy of childhood +MONDO:0018828 pseudo-TORCH syndrome 2 MONDO:0957408 Orphanet:481665 Orphanet:481671 type 1 interferonopathy of childhood +MONDO:0018835 nodular regenerative hyperplasia of the liver MONDO:0035357 Orphanet:48372 Orphanet:596937 portosinusoidal vascular disease +MONDO:0018838 lissencephaly spectrum disorders MONDO:0015159 Orphanet:48471 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0018860 microlissencephaly-micromelia syndrome MONDO:0015159 Orphanet:50810 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0018866 Aicardi-Goutieres syndrome MONDO:0957408 Orphanet:51 Orphanet:481671 type 1 interferonopathy of childhood +MONDO:0018875 Li-Fraumeni syndrome MONDO:0850064 Orphanet:524 Orphanet:619340 inherited hematologic cancer-predisposing syndrome +MONDO:0018883 Berardinelli-Seip congenital lipodystrophy MONDO:0015159 Orphanet:528 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0018883 Berardinelli-Seip congenital lipodystrophy MONDO:0015333 Orphanet:528 Orphanet:139033 progeroid syndrome +MONDO:0018907 craniopharyngioma MONDO:0015514 Orphanet:54595 Orphanet:156643 hereditary endocrine growth disease +MONDO:0018919 McCune-Albright syndrome MONDO:0015791 Orphanet:562 Orphanet:178040 peripheral precocious puberty +MONDO:0018919 McCune-Albright syndrome MONDO:0019289 Orphanet:562 Orphanet:79375 hyperpigmentation of the skin +MONDO:0018921 Meckel syndrome MONDO:0019741 Orphanet:564 Orphanet:93587 familial cystic renal disease +MONDO:0018921 Meckel syndrome MONDO:0022410 Orphanet:564 Orphanet:156165 retinal ciliopathy +MONDO:0018923 22q11.2 deletion syndrome MONDO:0015159 Orphanet:567 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0018924 microphthalmia, Lenz type MONDO:0015159 Orphanet:568 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0018925 familial or sporadic hemiplegic migraine MONDO:0015642 Orphanet:569 Orphanet:166311 benign partial infantile seizures +MONDO:0018930 monosomy 21 MONDO:0016919 Orphanet:574 Orphanet:262173 partial deletion of the long arm of chromosome 21 +MONDO:0018931 mucolipidosis type III, alpha/beta MONDO:0018931 Orphanet:423461 Orphanet:577 mucolipidosis type III, alpha/beta +MONDO:0018937 mucopolysaccharidosis type 3 MONDO:0800088 Orphanet:581 Orphanet:93448 lysosomal storage disease with skeletal involvement +MONDO:0018938 mucopolysaccharidosis type 4 MONDO:0800088 Orphanet:582 Orphanet:93448 lysosomal storage disease with skeletal involvement +MONDO:0018939 muscle-eye-brain disease MONDO:0016156 Orphanet:588 Orphanet:207119 qualitative or quantitative defects of FKRP +MONDO:0018939 muscle-eye-brain disease MONDO:0016185 Orphanet:588 Orphanet:209033 qualitative or quantitative defects of protein O-mannosyltransferase 2 +MONDO:0018959 potassium-aggravated myotonia MONDO:0957111 Orphanet:612 Orphanet:98738 neurological muscular channelopathy due to a genetic sodium channel defect +MONDO:0018967 short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia MONDO:0016463 Orphanet:632 Orphanet:229720 syndromic agammaglobulinemia +MONDO:0018973 patterned dystrophy of the retinal pigment epithelium MONDO:0957048 Orphanet:63454 Orphanet:519302 isolated macular dystrophy +MONDO:0018975 neurofibromatosis type 1 MONDO:0019289 Orphanet:636 Orphanet:79375 hyperpigmentation of the skin +MONDO:0018975 neurofibromatosis type 1 MONDO:0859008 Orphanet:636 Orphanet:634518 neurofibromatosis/schwannomatosis +MONDO:0018982 Niemann-Pick disease type C MONDO:0020143 Orphanet:646 Orphanet:98544 cerebral lipidosis with dementia +MONDO:0018982 Niemann-Pick disease type C MONDO:0020257 Orphanet:646 Orphanet:98687 supranuclear oculomotor palsy +MONDO:0018982 Niemann-Pick disease type C MONDO:0024237 Orphanet:646 Orphanet:183500 inherited neurodegenerative disorder +MONDO:0018991 hepatoportal sclerosis MONDO:0035357 Orphanet:64743 Orphanet:596937 portosinusoidal vascular disease +MONDO:0018997 Noonan syndrome MONDO:0015159 Orphanet:648 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0018997 Noonan syndrome MONDO:0015338 Orphanet:648 Orphanet:139393 syndromic craniosynostosis +MONDO:0018997 Noonan syndrome MONDO:0850064 Orphanet:648 Orphanet:619340 inherited hematologic cancer-predisposing syndrome +MONDO:0019002 Lhermitte-Duclos disease MONDO:0017623 Orphanet:65285 Orphanet:306498 PTEN hamartoma tumor syndrome +MONDO:0019005 nephronophthisis MONDO:0019741 Orphanet:655 Orphanet:93587 familial cystic renal disease +MONDO:0019012 Carpenter syndrome MONDO:0005308 Orphanet:65759 Orphanet:363250 ciliopathy +MONDO:0019012 Carpenter syndrome MONDO:0015159 Orphanet:65759 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0019016 maternally-inherited progressive external ophthalmoplegia MONDO:0005181 Orphanet:663 Orphanet:520820 progressive external ophthalmoplegia +MONDO:0019032 X-linked intellectual disability with isolated growth hormone deficiency MONDO:0010615 Orphanet:67045 Orphanet:231692 isolated growth hormone deficiency type III +MONDO:0019040 chromosomal disorder MONDO:0019755 Orphanet:68335 Orphanet:93890 developmental defect during embryogenesis +MONDO:0019075 Bosley-Salih-Alorainy syndrome MONDO:0015159 Orphanet:69737 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0019084 radiation proctitis MONDO:0043459 Orphanet:70475 Orphanet:521132 radiation-induced disorder +MONDO:0019088 post-transplant lymphoproliferative disease MONDO:0015760 Orphanet:70568 Orphanet:171918 T-cell non-Hodgkin lymphoma +MONDO:0019088 post-transplant lymphoproliferative disease MONDO:0017343 Orphanet:70568 Orphanet:289644 Epstein-Barr virus-associated malignant lymphoproliferative disorder +MONDO:0019088 post-transplant lymphoproliferative disease MONDO:0020083 Orphanet:70568 Orphanet:98290 immunodeficiency-associated lymphoproliferative disease +MONDO:0019102 dentinogenesis imperfecta-short stature-hearing loss-intellectual disability syndrome MONDO:0015159 Orphanet:71267 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0019129 global developmental delay-osteopenia-ectodermal defect syndrome MONDO:0015159 Orphanet:73223 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0019130 tubular renal disease-cardiomyopathy syndrome MONDO:0015962 Orphanet:73224 Orphanet:183592 inherited renal tubular disease +MONDO:0019131 ossification anomalies-psychomotor developmental delay syndrome MONDO:0015159 Orphanet:73230 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0019171 familial long QT syndrome MONDO:0019171 Orphanet:101016 Orphanet:768 familial long QT syndrome +MONDO:0019180 hereditary hemorrhagic telangiectasia MONDO:0019293 Orphanet:774 Orphanet:79379 skin vascular disease +MONDO:0019187 Axenfeld-Rieger syndrome MONDO:0850008 Orphanet:782 Orphanet:519276 anterior segment developmental abnormality with extraocular manifestations +MONDO:0019190 juvenile polyposis of infancy MONDO:0016909 Orphanet:79076 Orphanet:262083 partial monosomy of the long arm of chromosome 10 +MONDO:0019194 localized lipodystrophy MONDO:0020089 Orphanet:79088 Orphanet:98307 acquired lipodystrophy +MONDO:0019207 DEND syndrome MONDO:0015650 Orphanet:79134 Orphanet:166463 epilepsy syndrome +MONDO:0019208 Bickerstaff brainstem encephalitis MONDO:0020640 Orphanet:79138 Orphanet:622014 autoimmune encephalitis +MONDO:0019216 inborn disorder of amino acid transport MONDO:0019189 Orphanet:79166 Orphanet:79062 inborn disorder of amino acid and other organic acid metabolism +MONDO:0019232 inborn disorder of peptide metabolism MONDO:0019189 Orphanet:79187 Orphanet:79062 inborn disorder of amino acid and other organic acid metabolism +MONDO:0019235 inborn disorder of phenylalanine and tyrosine metabolism MONDO:0019189 Orphanet:79190 Orphanet:79062 inborn disorder of amino acid and other organic acid metabolism +MONDO:0019245 lysosomal lipid storage disorder MONDO:0019255 Orphanet:79204 Orphanet:79225 sphingolipidosis +MONDO:0019249 mucopolysaccharidosis MONDO:0015338 Orphanet:79213 Orphanet:139393 syndromic craniosynostosis +MONDO:0019260 adult neuronal ceroid lipofuscinosis MONDO:0020074 Orphanet:79262 Orphanet:98261 progressive myoclonus epilepsy +MONDO:0019261 infantile neuronal ceroid lipofuscinosis MONDO:0020074 Orphanet:79263 Orphanet:98261 progressive myoclonus epilepsy +MONDO:0019262 juvenile neuronal ceroid lipofuscinosis MONDO:0020074 Orphanet:79264 Orphanet:98261 progressive myoclonus epilepsy +MONDO:0019280 hypertrichosis MONDO:0019278 Orphanet:79365 Orphanet:79363 hair anomaly +MONDO:0019284 inherited isolated nail anomaly MONDO:0019283 Orphanet:79369 Orphanet:79368 nail anomaly +MONDO:0019321 atypical Werner syndrome MONDO:0015333 Orphanet:79474 Orphanet:139033 progeroid syndrome +MONDO:0019338 sarcoidosis MONDO:0016345 Orphanet:797 Orphanet:217720 non-familial restrictive cardiomyopathy +MONDO:0019349 Sotos syndrome MONDO:0015159 Orphanet:821 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0019349 Sotos syndrome MONDO:0019716 Orphanet:821 Orphanet:93460 overgrowth syndrome +MONDO:0019353 Stargardt disease MONDO:0957048 Orphanet:827 Orphanet:519302 isolated macular dystrophy +MONDO:0019374 CAMOS syndrome MONDO:0015159 Orphanet:83472 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0019375 megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome MONDO:0015159 Orphanet:83473 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0019377 Mycoplasma encephalitis MONDO:0006009 Orphanet:83482 Orphanet:98252 viral encephalitis +MONDO:0019383 acute disseminated encephalomyelitis MONDO:0020640 Orphanet:83597 Orphanet:622014 autoimmune encephalitis +MONDO:0019383 acute disseminated encephalomyelitis MONDO:0044685 Orphanet:83597 Orphanet:499047 autoimmune/inflammatory optic neuropathy +MONDO:0019385 steroid-responsive encephalopathy associated with autoimmune thyroiditis MONDO:0016593 Orphanet:83601 Orphanet:247242 acquired ataxia +MONDO:0019386 progressive rubella panencephalitis MONDO:0006009 Orphanet:83616 Orphanet:98252 viral encephalitis +MONDO:0019391 Fanconi anemia MONDO:0015159 Orphanet:84 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0019391 Fanconi anemia MONDO:0019289 Orphanet:84 Orphanet:79375 hyperpigmentation of the skin +MONDO:0019394 Senior-Boichis syndrome MONDO:0019741 Orphanet:84081 Orphanet:93587 familial cystic renal disease +MONDO:0019414 BRESEK syndrome MONDO:0015159 Orphanet:85284 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0019419 X-linked intellectual disability-macrocephaly-macroorchidism syndrome MONDO:0015159 Orphanet:85320 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0019421 X-linked intellectual disability, Seemanova type MONDO:0015159 Orphanet:85323 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0019424 X-linked intellectual disability-acromegaly-hyperactivity syndrome MONDO:0015159 Orphanet:85327 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0019428 fried syndrome MONDO:0015159 Orphanet:85335 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0019438 AL amyloidosis MONDO:0004959 Orphanet:85443 Orphanet:98282 plasma cell neoplasm +MONDO:0019518 Waardenburg-Shah syndrome MONDO:0019290 Orphanet:897 Orphanet:79376 hypopigmentation of the skin +MONDO:0019529 radiation myelitis MONDO:0043459 Orphanet:90021 Orphanet:521132 radiation-induced disorder +MONDO:0019600 xeroderma pigmentosum MONDO:0015333 Orphanet:910 Orphanet:139033 progeroid syndrome +MONDO:0019609 Zellweger spectrum disorders MONDO:0015159 Orphanet:912 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0019610 Zollinger-Ellison syndrome MONDO:0015063 Orphanet:913 Orphanet:100076 duodenal neuroendocrine tumor, well differentiated, low or intermediate grade +MONDO:0019610 Zollinger-Ellison syndrome MONDO:0023206 Orphanet:913 Orphanet:506060 functional pancreatic neuroendocrine tumor +MONDO:0019623 hereditary angioedema MONDO:0019013 Orphanet:91378 Orphanet:658 non-histaminic angioedema +MONDO:0019624 acquired angioedema MONDO:0019013 Orphanet:91385 Orphanet:658 non-histaminic angioedema +MONDO:0019625 familial thoracic aortic aneurysm and aortic dissection MONDO:0017310 Orphanet:91387 Orphanet:284993 Marfan and Marfan-related disorder +MONDO:0019725 pediatric systemic lupus erythematosus MONDO:0019737 Orphanet:93552 Orphanet:93573 thrombotic microangiopathy +MONDO:0019736 dense deposit disease MONDO:0018013 Orphanet:93571 Orphanet:329918 non-immunoglobulin-mediated membranoproliferative glomerulonephritis +MONDO:0019784 12q14 microdeletion syndrome MONDO:0015159 Orphanet:94063 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0019784 12q14 microdeletion syndrome MONDO:0017198 Orphanet:94063 Orphanet:2781 osteopetrosis +MONDO:0019788 non-secreting paraganglioma MONDO:0035540 Orphanet:94080 Orphanet:573163 pheochromocytoma-paraganglioma +MONDO:0019851 acquired primary ovarian failure MONDO:0015514 Orphanet:95709 Orphanet:156643 hereditary endocrine growth disease +MONDO:0019928 48,XXXY syndrome MONDO:0015159 Orphanet:96263 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0019929 49,XXXXY syndrome MONDO:0015159 Orphanet:96264 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0019933 acromegaly MONDO:0006238 Orphanet:963 Orphanet:96256 growth hormone-producing pituitary gland adenoma +MONDO:0019943 hereditary continuous muscle fiber activity MONDO:0957114 Orphanet:972 Orphanet:98741 neurological muscular channelopathy due to a genetic potassium channel defect +MONDO:0019947 rippling muscle disease 2 MONDO:0016146 Orphanet:97238 Orphanet:207078 caveolinopathy +MONDO:0019955 GRFoma MONDO:0023206 Orphanet:97261 Orphanet:506060 functional pancreatic neuroendocrine tumor +MONDO:0019957 PPoma MONDO:0023206 Orphanet:97278 Orphanet:506060 functional pancreatic neuroendocrine tumor +MONDO:0019959 glucagonoma MONDO:0023206 Orphanet:97280 Orphanet:506060 functional pancreatic neuroendocrine tumor +MONDO:0019960 VIPoma MONDO:0023206 Orphanet:97282 Orphanet:506060 functional pancreatic neuroendocrine tumor +MONDO:0019978 Robinow syndrome MONDO:0015159 Orphanet:97360 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0020120 skeletal muscle disorder MONDO:0019056 Orphanet:98472 Orphanet:68381 neuromuscular disease +MONDO:0020344 postsynaptic congenital myasthenic syndrome MONDO:0957111 Orphanet:98913 Orphanet:98738 neurological muscular channelopathy due to a genetic sodium channel defect +MONDO:0020356 coloboma of iris MONDO:0011119 Orphanet:98944 Orphanet:98634 iridogoniodysgenesis +MONDO:0020368 Axenfeld anomaly MONDO:0011119 Orphanet:98978 Orphanet:98634 iridogoniodysgenesis +MONDO:0020469 48,XYYY syndrome MONDO:0015159 Orphanet:99329 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0020478 Leber plus disease MONDO:0020249 Orphanet:99718 Orphanet:98671 hereditary optic neuropathy +MONDO:0020479 pituitary gigantism MONDO:0006238 Orphanet:99725 Orphanet:96256 growth hormone-producing pituitary gland adenoma +MONDO:0020485 King-Denborough syndrome MONDO:0015159 Orphanet:99741 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0020485 King-Denborough syndrome MONDO:0957115 Orphanet:99741 Orphanet:98742 neurological muscular channelopathy due to a genetic ryanodine receptor defect +MONDO:0020495 PEHO-like syndrome MONDO:0015650 Orphanet:99807 Orphanet:166463 epilepsy syndrome +MONDO:0020499 Nipah virus disease MONDO:0006009 Orphanet:99825 Orphanet:98252 viral encephalitis +MONDO:0020502 yellow fever MONDO:0018087 Orphanet:99829 Orphanet:341 viral hemorrhagic fever +MONDO:0020527 ectopic Cushing syndrome MONDO:0023206 Orphanet:99889 Orphanet:506060 functional pancreatic neuroendocrine tumor +MONDO:0020528 ACTH-dependent Cushing syndrome MONDO:0957431 Orphanet:99892 Orphanet:641613 endogenous Cushing syndrome MONDO:0020530 Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR1 deficiency MONDO:0000001 Orphanet:99898 Orphanet:377788 disease +MONDO:0020540 ovarian gynandroblastoma MONDO:0018172 Orphanet:99914 Orphanet:35808 malignant sex cord stromal tumor of ovary +MONDO:0020569 intermediate DEND syndrome MONDO:0015650 Orphanet:99989 Orphanet:166463 epilepsy syndrome +MONDO:0020603 X-linked chondrodysplasia punctata 2 MONDO:0017269 Orphanet:35173 Orphanet:281210 X-linked ichthyosis syndrome +MONDO:0020774 Menke-Hennekam syndrome MONDO:0015159 Orphanet:592574 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0020783 capillary malformation-arteriovenous malformation 1 MONDO:0007864 Orphanet:90307 Orphanet:2346 angioosteohypertrophic syndrome +MONDO:0021005 faciodigitogenital syndrome MONDO:0015159 Orphanet:915 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0021081 anti-NMDA receptor encephalitis MONDO:0020640 Orphanet:217253 Orphanet:622014 autoimmune encephalitis +MONDO:0021651 synpolydactyly MONDO:0019530 Orphanet:93403 Orphanet:90025 non-syndromic syndactyly +MONDO:0022851 Dennis-Fairhurst-Moore syndrome MONDO:0015159 Orphanet:2109 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0022851 Dennis-Fairhurst-Moore syndrome MONDO:0019287 Orphanet:2109 Orphanet:79373 ectodermal dysplasia syndrome +MONDO:0022851 Dennis-Fairhurst-Moore syndrome MONDO:0019303 Orphanet:2109 Orphanet:79389 premature aging syndrome +MONDO:0023171 foix chavany Marie syndrome MONDO:0015923 Orphanet:2048 Orphanet:182086 acquired peripheral neuropathy +MONDO:0023201 Fryns Smeets Thiry syndrome MONDO:0015159 Orphanet:2058 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0024504 enterochromaffin cell serotonin-producing pancreatic neuroendocrine tumor MONDO:0023206 Orphanet:506090 Orphanet:506060 functional pancreatic neuroendocrine tumor +MONDO:0024537 Brown-Vialetto-van Laere syndrome 1 MONDO:0100309 Orphanet:572543 Orphanet:183518 hereditary ataxia +MONDO:0024557 ataxia-telangiectasia-like disorder 1 MONDO:0019293 Orphanet:251347 Orphanet:79379 skin vascular disease +MONDO:0025193 oculopharyngodistal myopathy MONDO:0016108 Orphanet:98897 Orphanet:206650 autosomal dominant distal myopathy +MONDO:0025514 livedoid vasculopathy MONDO:0019293 Orphanet:542643 Orphanet:79379 skin vascular disease +MONDO:0029134 severe combined immunodeficiency due to CARMIL2 deficiency MONDO:0016537 Orphanet:542301 Orphanet:238510 lymphoproliferative syndrome +MONDO:0030045 Liberfarb syndrome MONDO:0015159 Orphanet:589442 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0030074 spondylometaphyseal dysplasia with corneal dystrophy MONDO:0015159 Orphanet:589435 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0030074 spondylometaphyseal dysplasia with corneal dystrophy MONDO:0016763 Orphanet:589435 Orphanet:254 spondylometaphyseal dysplasia +MONDO:0030258 pontocerebellar hypoplasia, type 14 MONDO:0015159 Orphanet:613274 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0030805 spinocerebellar ataxia 49 MONDO:0019792 Orphanet:631106 Orphanet:94145 autosomal dominant cerebellar ataxia type I +MONDO:0030894 AMED syndrome, digenic MONDO:0001713 Orphanet:611216 Orphanet:68383 inherited aplastic anemia +MONDO:0030898 immunodeficiency 76 MONDO:0018814 Orphanet:647804 Orphanet:480549 non-SCID combined immunodeficiency +MONDO:0030914 Clark-Baraitser syndrome MONDO:0015159 Orphanet:600731 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0030947 neurodegeneration, childhood-onset, with hypotonia, respiratory insufficiency, and brain imaging abnormalities MONDO:0024237 Orphanet:610573 Orphanet:183500 inherited neurodegenerative disorder +MONDO:0031007 spondyloepiphyseal dysplasia, sensorineural hearing loss, impaired intellectual development, and leber congenital amaurosis MONDO:0015159 Orphanet:611207 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0031007 spondyloepiphyseal dysplasia, sensorineural hearing loss, impaired intellectual development, and leber congenital amaurosis MONDO:0019046 Orphanet:611207 Orphanet:68356 leukodystrophy +MONDO:0031008 nephrotic syndrome, type 24 MONDO:0018170 Orphanet:567548 Orphanet:357502 idiopathic nephrotic syndrome +MONDO:0031213 restrictive dermopathy MONDO:0015159 Orphanet:1662 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0031219 mismatch repair cancer syndrome MONDO:0015356 Orphanet:252202 Orphanet:140162 hereditary neoplastic syndrome +MONDO:0031415 Carey-Fineman-Ziter syndrome MONDO:0015159 Orphanet:1358 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0031415 Carey-Fineman-Ziter syndrome MONDO:0019952 Orphanet:1358 Orphanet:97245 congenital myopathy +MONDO:0031481 microcephaly, epilepsy, and diabetes syndrome 1 MONDO:0015967 Orphanet:306558 Orphanet:183625 monogenic diabetes +MONDO:0032526 spinocerebellar ataxia 48 MONDO:0019792 Orphanet:631103 Orphanet:94145 autosomal dominant cerebellar ataxia type I +MONDO:0032600 Snijders Blok-Campeau syndrome MONDO:0015159 Orphanet:599082 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0032642 arthrogryposis, cleft palate, craniosynostosis, and impaired intellectual development MONDO:0015159 Orphanet:565858 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0032642 arthrogryposis, cleft palate, craniosynostosis, and impaired intellectual development MONDO:0015338 Orphanet:565858 Orphanet:139393 syndromic craniosynostosis +MONDO:0032642 arthrogryposis, cleft palate, craniosynostosis, and impaired intellectual development MONDO:0015653 Orphanet:565858 Orphanet:166472 monogenic epilepsy +MONDO:0032643 pontocerebellar hypoplasia, type 12 MONDO:0015168 Orphanet:611256 Orphanet:1037 arthrogryposis multiplex congenita +MONDO:0032653 cardiac-urogenital syndrome MONDO:0015161 Orphanet:647811 Orphanet:102285 multiple congenital anomalies/dysmorphic syndrome without intellectual disability +MONDO:0032672 intellectual developmental disorder with cardiac defects and dysmorphic facies MONDO:0015159 Orphanet:562569 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0032677 lissencephaly 9 with complex brainstem malformation MONDO:0015146 Orphanet:572013 Orphanet:102009 classic lissencephaly +MONDO:0032688 polymicrogyria with or without vascular-type Ehlers-Danlos syndrome MONDO:0020066 Orphanet:636941 Orphanet:98249 Ehlers-Danlos syndrome +MONDO:0032714 facial dysmorphism, hypertrichosis, epilepsy, intellectual/developmental delay, and gingival overgrowth syndrome MONDO:0015159 Orphanet:598603 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0032714 facial dysmorphism, hypertrichosis, epilepsy, intellectual/developmental delay, and gingival overgrowth syndrome MONDO:0019280 Orphanet:598603 Orphanet:79365 hypertrichosis +MONDO:0032716 leukoencephalopathy, acute reversible, with increased urinary alpha-ketoglutarate MONDO:0016790 Orphanet:615964 Orphanet:254749 tricarboxylic acid cycle disorder +MONDO:0032831 pontocerebellar hypoplasia, type 13 MONDO:0015159 Orphanet:613267 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0033282 multiple mitochondrial dysfunctions syndrome 5 MONDO:0024237 Orphanet:569274 Orphanet:183500 inherited neurodegenerative disorder +MONDO:0033479 spinocerebellar ataxia 44 MONDO:0019793 Orphanet:631095 Orphanet:94148 autosomal dominant cerebellar ataxia type III +MONDO:0033642 neurodevelopmental disorder with alopecia and brain abnormalities MONDO:0015159 Orphanet:544488 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0033642 neurodevelopmental disorder with alopecia and brain abnormalities MONDO:0017356 Orphanet:544488 Orphanet:289869 inborn disorder of ornithine metabolism +MONDO:0033810 isolated iridoschisis MONDO:0011119 Orphanet:519392 Orphanet:98634 iridogoniodysgenesis +MONDO:0033938 acute radiation syndrome MONDO:0043459 Orphanet:454831 Orphanet:521132 radiation-induced disorder +MONDO:0034110 atypical Fanconi syndrome-neonatal hyperinsulinism syndrome MONDO:0015962 Orphanet:544628 Orphanet:183592 inherited renal tubular disease +MONDO:0034110 atypical Fanconi syndrome-neonatal hyperinsulinism syndrome MONDO:0015967 Orphanet:544628 Orphanet:183625 monogenic diabetes +MONDO:0034110 atypical Fanconi syndrome-neonatal hyperinsulinism syndrome MONDO:0017182 Orphanet:544628 Orphanet:276525 familial hyperinsulinism +MONDO:0034820 cleft lip and palate-craniofacial dysmorphism-congenital heart defect-hearing loss syndrome MONDO:0015161 Orphanet:508476 Orphanet:102285 multiple congenital anomalies/dysmorphic syndrome without intellectual disability +MONDO:0034823 oral-facial-digital syndrome with short stature and brachymesophalangy MONDO:0005308 Orphanet:508501 Orphanet:363250 ciliopathy +MONDO:0034823 oral-facial-digital syndrome with short stature and brachymesophalangy MONDO:0015375 Orphanet:508501 Orphanet:140997 orofaciodigital syndrome +MONDO:0034989 intellectual disability-cardiac anomalies-short stature-joint laxity syndrome MONDO:0015159 Orphanet:508498 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0034991 intrauterine growth restriction-congenital multiple café-au-lait macules-increased sister chromatid exchange syndrome MONDO:0019289 Orphanet:508512 Orphanet:79375 hyperpigmentation of the skin +MONDO:0035018 frontonasal dysplasia-bifid nose-upper limb anomalies syndrome MONDO:0016643 Orphanet:521308 Orphanet:250 frontonasal dysplasia +MONDO:0035105 diaphragmatic hernia-short bowel-asplenia syndrome MONDO:0043009 Orphanet:527468 Orphanet:471383 hereditary lethal multiple congenital anomalies/dysmorphic syndrome +MONDO:0035151 17q24.2 microdeletion syndrome MONDO:0015159 Orphanet:529962 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0035153 male infertility due to acephalic spermatozoa MONDO:0018394 Orphanet:529970 Orphanet:399808 male infertility with teratozoospermia due to single gene mutation +MONDO:0035161 progressive dementia with neuroserpin inclusion bodies MONDO:0011412 Orphanet:530303 Orphanet:85110 familial encephalopathy with neuroserpin inclusion bodies +MONDO:0035173 9q21.13 microdeletion syndrome MONDO:0016908 Orphanet:531151 Orphanet:262074 partial monosomy of the long arm of chromosome 9 +MONDO:0035312 fibrohistiocytic inflammatory pseudotumor of the liver MONDO:0019528 Orphanet:555434 Orphanet:90003 inflammatory pseudotumor of the liver +MONDO:0035313 lymphoplasmacytic inflammatory pseudotumor of the liver MONDO:0017287 Orphanet:555437 Orphanet:284264 IgG4-related disease +MONDO:0035313 lymphoplasmacytic inflammatory pseudotumor of the liver MONDO:0019528 Orphanet:555437 Orphanet:90003 inflammatory pseudotumor of the liver +MONDO:0035344 acute bilirubin encephalopathy MONDO:0018477 Orphanet:529799 Orphanet:415286 bilirubin encephalopathy +MONDO:0035345 chronic bilirubin encephalopathy MONDO:0018477 Orphanet:529808 Orphanet:415286 bilirubin encephalopathy +MONDO:0035383 FOXG1 syndrome MONDO:0015653 Orphanet:561854 Orphanet:166472 monogenic epilepsy +MONDO:0035401 isolated anencephaly MONDO:0008791 Orphanet:563609 Orphanet:1048 anencephaly 1 +MONDO:0035402 isolated exencephaly MONDO:0008791 Orphanet:563612 Orphanet:1048 anencephaly 1 +MONDO:0035432 POMGNT2-related limb-girdle muscular dystrophy R24 MONDO:0015152 Orphanet:565899 Orphanet:102015 autosomal recessive limb-girdle muscular dystrophy +MONDO:0035432 POMGNT2-related limb-girdle muscular dystrophy R24 MONDO:0016155 Orphanet:565899 Orphanet:207113 qualitative or quantitative defects of protein involved in O-glycosylation of alpha-dystroglycan +MONDO:0035433 calpain-3-related limb-girdle muscular dystrophy D4 MONDO:0015151 Orphanet:565909 Orphanet:102014 muscular dystrophy, limb-girdle, autosomal dominant +MONDO:0035437 CEBPE-associated autoinflammation-immunodeficiency-neutrophil dysfunction syndrome MONDO:0017953 Orphanet:566067 Orphanet:324924 hereditary periodic fever syndrome +MONDO:0035444 acute mast cell leukemia MONDO:0020334 Orphanet:566393 Orphanet:98851 mast cell leukemia +MONDO:0035445 chronic mast cell leukemia MONDO:0020334 Orphanet:566396 Orphanet:98851 mast cell leukemia +MONDO:0035452 mueller-weiss syndrome MONDO:0005380 Orphanet:566943 Orphanet:399158 osteonecrosis +MONDO:0035454 B-cell immunodeficiency-limb anomaly-urogenital malformation syndrome MONDO:0015161 Orphanet:567502 Orphanet:102285 multiple congenital anomalies/dysmorphic syndrome without intellectual disability +MONDO:0035454 B-cell immunodeficiency-limb anomaly-urogenital malformation syndrome MONDO:0016463 Orphanet:567502 Orphanet:229720 syndromic agammaglobulinemia +MONDO:0035459 idiopathic multidrug-resistant nephrotic syndrome MONDO:0031008 Orphanet:567550 Orphanet:567548 nephrotic syndrome, type 24 +MONDO:0035460 idiopathic steroid-resistant nephrotic syndrome with sensitivity to second-line immunosuppressive therapy MONDO:0031008 Orphanet:567552 Orphanet:567548 nephrotic syndrome, type 24 +MONDO:0035473 warts-immunodeficiency-lymphedema-anogenital dysplasia syndrome MONDO:0015356 Orphanet:568056 Orphanet:140162 hereditary neoplastic syndrome +MONDO:0035511 ricin poisoning MONDO:0005570 Orphanet:570470 Orphanet:97992 hematologic disorder +MONDO:0035521 blepharophimosis-ptosis-epicanthus inversus syndrome plus MONDO:0008537 Orphanet:572333 Orphanet:98575 telecanthus +MONDO:0035521 blepharophimosis-ptosis-epicanthus inversus syndrome plus MONDO:0015159 Orphanet:572333 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0035521 blepharophimosis-ptosis-epicanthus inversus syndrome plus MONDO:0016902 Orphanet:572333 Orphanet:262019 partial deletion of the long arm of chromosome 3 MONDO:0035547 predisposition to severe viral infection due to IRF7 deficiency MONDO:0000001 Orphanet:574918 Orphanet:377788 disease MONDO:0035548 autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial jak1 deficiency MONDO:0000001 Orphanet:574957 Orphanet:377788 disease +MONDO:0035605 B-lymphoblastic leukemia/lymphoma with recurrent genetic abnormality MONDO:0020511 Orphanet:585877 Orphanet:99860 precursor B-cell acute lymphoblastic leukemia +MONDO:0035605 B-lymphoblastic leukemia/lymphoma with recurrent genetic abnormality MONDO:0850064 Orphanet:585877 Orphanet:619340 inherited hematologic cancer-predisposing syndrome +MONDO:0035647 childhood-onset Steinert myotonic dystrophy MONDO:0008056 Orphanet:589824 Orphanet:273 myotonic dystrophy type 1 +MONDO:0035648 juvenile-onset Steinert myotonic dystrophy MONDO:0008056 Orphanet:589827 Orphanet:273 myotonic dystrophy type 1 +MONDO:0035649 adult-onset Steinert myotonic dystrophy MONDO:0008056 Orphanet:589830 Orphanet:273 myotonic dystrophy type 1 +MONDO:0035650 late-onset Steinert myotonic dystrophy MONDO:0008056 Orphanet:589833 Orphanet:273 myotonic dystrophy type 1 +MONDO:0035651 choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome MONDO:0015159 Orphanet:589856 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0035660 GNAO1-related developmental delay-seizures-movement disorder spectrum MONDO:0015653 Orphanet:592564 Orphanet:166472 monogenic epilepsy +MONDO:0035661 TRAF7-associated heart defect-digital anomalies-facial dysmorphism-motor and speech delay syndrome MONDO:0015159 Orphanet:592570 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0035694 combined immunodeficiency due to RELA haploinsufficiency MONDO:0018814 Orphanet:596759 Orphanet:480549 non-SCID combined immunodeficiency +MONDO:0035706 SETD2-related microcephaly-severe intellectual disability-multiple congenital anomalies syndrome MONDO:0015159 Orphanet:597743 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0035707 blepharophimosis-intellectual disability syndrome/genitopatellar overlap syndrome MONDO:0036042 Orphanet:597746 Orphanet:597749 KAT6B-related multiple congenital anomalies syndrome +MONDO:0035713 FOXG1 syndrome due to intragenic alteration MONDO:0035383 Orphanet:598164 Orphanet:561854 FOXG1 syndrome +MONDO:0035743 factor V amsterdam bleeding disorder MONDO:0035742 Orphanet:599579 Orphanet:599519 factor V short isoforms-related bleeding disorder +MONDO:0035759 factor V atlanta bleeding disorder MONDO:0035742 Orphanet:600194 Orphanet:599519 factor V short isoforms-related bleeding disorder +MONDO:0035763 idiopathic non-lupus full-house nephropathy MONDO:0019722 Orphanet:567544 Orphanet:93548 glomerular disorder +MONDO:0035775 CCNK-related neurodevelopmental disorder-severe intellectual disability-facial dysmorphism syndrome MONDO:0015159 Orphanet:600668 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0035819 cerebellar hypoplasia-intellectual disability-congenital microcephaly-dystonia-anemia-growth retardation syndrome MONDO:0015159 Orphanet:603448 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0035823 KLHL7-related Bohring-Opitz-like syndrome MONDO:0015159 Orphanet:603689 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0035824 KLHL7-related cold-induced sweating-like syndrome MONDO:0018431 Orphanet:603694 Orphanet:401993 cold-induced sweating syndrome - hyperthermia spectrum +MONDO:0036189 oculogastrointestinal-neurodevelopmental syndrome MONDO:0015159 Orphanet:611201 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0036189 oculogastrointestinal-neurodevelopmental syndrome MONDO:0016073 Orphanet:611201 Orphanet:202948 syndromic microphthalmia +MONDO:0036212 spastic paraparesis-cataracts-speech delay syndrome MONDO:0015087 Orphanet:615938 Orphanet:100979 autosomal dominant complex spastic paraplegia +MONDO:0036218 lethal pontocerebellar hypoplasia-hypotonia-respiratory insufficiency syndrome due to biallelic deletions in the ATAD3 gene cluster MONDO:0016883 Orphanet:615986 Orphanet:261857 partial deletion of the short arm of chromosome 1 +MONDO:0042727 sacrococcygeal teratoma MONDO:0019500 Orphanet:494421 Orphanet:883 extragonadal teratoma +MONDO:0044302 congenital heart defects, dysmorphic facial features, and intellectual developmental disorder MONDO:0015159 Orphanet:646278 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0044323 Rahman syndrome MONDO:0015159 Orphanet:642763 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0044634 retinitis pigmentosa-hearing loss-premature aging-short stature-facial dysmorphism syndrome MONDO:0015159 Orphanet:494439 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0044646 early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome MONDO:0015653 Orphanet:496641 Orphanet:166472 monogenic epilepsy +MONDO:0044649 omphalocele-diaphragmatic hernia-cardiovascular anomalies-radial ray defect syndrome MONDO:0015159 Orphanet:496693 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0044649 omphalocele-diaphragmatic hernia-cardiovascular anomalies-radial ray defect syndrome MONDO:0015161 Orphanet:496693 Orphanet:102285 multiple congenital anomalies/dysmorphic syndrome without intellectual disability +MONDO:0044701 childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder MONDO:0024237 Orphanet:500180 Orphanet:183500 inherited neurodegenerative disorder +MONDO:0044714 mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome MONDO:0100309 Orphanet:502423 Orphanet:183518 hereditary ataxia +MONDO:0044715 metopic ridging-ptosis-facial dysmorphism syndrome MONDO:0015159 Orphanet:502430 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0044717 4q25 proximal deletion syndrome MONDO:0015159 Orphanet:502437 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0044727 pancreatic carcinoma with mixed differentiation MONDO:0005815 Orphanet:506112 Orphanet:506052 pancreatic neuroendocrine neoplasm +MONDO:0044877 paraneoplastic cerebellar degeneration MONDO:0859692 Orphanet:623626 Orphanet:623638 immune-mediated cerebellar ataxia +MONDO:0054669 pontocerebellar hypoplasia, type 11 MONDO:0015159 Orphanet:611247 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0054785 multiple mitochondrial dysfunctions syndrome 6 MONDO:0024237 Orphanet:569290 Orphanet:183500 inherited neurodegenerative disorder +MONDO:0060490 neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies MONDO:0015159 Orphanet:544469 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0060532 congenital heart defects and skeletal malformations syndrome MONDO:0015161 Orphanet:643503 Orphanet:102285 multiple congenital anomalies/dysmorphic syndrome without intellectual disability +MONDO:0060533 microcephaly, short stature, and limb abnormalities MONDO:0035534 Orphanet:572773 Orphanet:572761 DONSON-related microcephaly-short stature-limb abnormalities spectrum +MONDO:0060631 Alkuraya-Kucinskas syndrome MONDO:0015159 Orphanet:610569 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0060631 Alkuraya-Kucinskas syndrome MONDO:0015168 Orphanet:610569 Orphanet:1037 arthrogryposis multiplex congenita +MONDO:0060707 Ververi-Brady syndrome MONDO:0015159 Orphanet:580940 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0100062 developmental and epileptic encephalopathy MONDO:0020070 Orphanet:1934 Orphanet:98257 neonatal epilepsy syndrome +MONDO:0100133 mitochondrial complex I deficiency MONDO:0009637 Orphanet:2609 Orphanet:206966 inborn mitochondrial myopathy +MONDO:0100147 SATB2 associated disorder MONDO:0015159 Orphanet:576278 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0100212 IFAP syndrome MONDO:0004907 Orphanet:2273 Orphanet:79364 alopecia +MONDO:0100212 IFAP syndrome MONDO:0017269 Orphanet:2273 Orphanet:281210 X-linked ichthyosis syndrome +MONDO:0100216 DICER1-related tumor predisposition MONDO:0011014 Orphanet:284343 Orphanet:64742 pleuropulmonary blastoma +MONDO:0100216 DICER1-related tumor predisposition MONDO:0015356 Orphanet:284343 Orphanet:140162 hereditary neoplastic syndrome +MONDO:0100244 paroxysmal nocturnal hemoglobinuria MONDO:0017748 Orphanet:447 Orphanet:309515 inborn disorder of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation +MONDO:0100253 Roberts-SC phocomelia syndrome MONDO:0015159 Orphanet:3103 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0100309 hereditary ataxia MONDO:0000437 Orphanet:183518 Orphanet:102002 cerebellar ataxia +MONDO:0100347 carcinoid syndrome MONDO:0019496 Orphanet:100093 Orphanet:877 neuroendocrine neoplasm +MONDO:0100349 COACH syndrome MONDO:0015159 Orphanet:1454 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0100349 COACH syndrome MONDO:0022410 Orphanet:1454 Orphanet:156165 retinal ciliopathy +MONDO:0100367 port-wine nevi-mega cisterna magna-hydrocephalus syndrome MONDO:0015161 Orphanet:2703 Orphanet:102285 multiple congenital anomalies/dysmorphic syndrome without intellectual disability +MONDO:0600030 B-cell acute lymphoblastic leukemia with t(1;19)(q23;p13.3); E2A-PBX1 (TCF3-PBX1) MONDO:0035605 Orphanet:585956 Orphanet:585877 B-lymphoblastic leukemia/lymphoma with recurrent genetic abnormality +MONDO:0800025 Teebi hypertelorism syndrome 1 MONDO:0015161 Orphanet:1519 Orphanet:102285 multiple congenital anomalies/dysmorphic syndrome without intellectual disability +MONDO:0800025 Teebi hypertelorism syndrome 1 MONDO:0016643 Orphanet:1519 Orphanet:250 frontonasal dysplasia +MONDO:0800044 congenital disorder of deglycosylation 1 MONDO:0019296 Orphanet:404454 Orphanet:79382 subcutaneous tissue disorder +MONDO:0800436 craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development 1 MONDO:0015159 Orphanet:1394 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0800438 developmental delay with short stature, dysmorphic facial features, and sparse hair 1 MONDO:0015159 Orphanet:459061 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0800445 Birt-Hogg-Dube syndrome 1 MONDO:0005308 Orphanet:122 Orphanet:363250 ciliopathy +MONDO:0850001 congenital neuronal ceroid lipofuscinosis MONDO:0020074 Orphanet:168486 Orphanet:98261 progressive myoclonus epilepsy +MONDO:0850008 anterior segment developmental abnormality with extraocular manifestations MONDO:0019503 Orphanet:519276 Orphanet:88632 anterior segment dysgenesis +MONDO:0850013 twin anemia-polycythemia sequence MONDO:0005570 Orphanet:617294 Orphanet:97992 hematologic disorder +MONDO:0850053 F12-associated cold autoinflammatory syndrome MONDO:0017953 Orphanet:617919 Orphanet:324924 hereditary periodic fever syndrome +MONDO:0850054 hemophilia B leyden MONDO:0010604 Orphanet:617930 Orphanet:98879 hemophilia B +MONDO:0850059 hereditary persistence of fetal hemoglobin-intellectual disability syndrome MONDO:0015159 Orphanet:619233 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0850059 hereditary persistence of fetal hemoglobin-intellectual disability syndrome MONDO:0019050 Orphanet:619233 Orphanet:68364 inherited hemoglobinopathy +MONDO:0850065 neonatal-onset severe multisystemic autoinflammatory disease with increased IL18 MONDO:0015542 Orphanet:619363 Orphanet:158041 secondary hemophagocytic lymphohistiocytosis +MONDO:0850066 SAMD9L-associated autoinflammatory syndrome MONDO:0957408 Orphanet:619367 Orphanet:481671 type 1 interferonopathy of childhood +MONDO:0850067 immune deficiency due to impaired neutrophil phagocytosis and migration MONDO:0015978 Orphanet:619941 Orphanet:183681 functional neutrophil defect +MONDO:0850068 early-onset autoimmunity-autoinflammation-immunodeficiency syndrome MONDO:0016537 Orphanet:619948 Orphanet:238510 lymphoproliferative syndrome +MONDO:0850069 familial hyperinflammatory lymphoproliferative immunodeficiency MONDO:0016537 Orphanet:619953 Orphanet:238510 lymphoproliferative syndrome +MONDO:0850070 CADINS disease MONDO:0018037 Orphanet:619972 Orphanet:331223 hyper-IgE syndrome +MONDO:0850071 developmental delay-immunodeficiency-leukoencephalopathy-hypohomocysteinemia syndrome MONDO:0019222 Orphanet:619979 Orphanet:79173 inborn disorder of methionine cycle and sulfur amino acid metabolism +MONDO:0850073 non-syndromic unicoronal craniosynostosis MONDO:0850072 Orphanet:620102 Orphanet:620096 non-syndromic unisutural craniosynostosis +MONDO:0850074 non-syndromic unilambdoid craniosynostosis MONDO:0850072 Orphanet:620113 Orphanet:620096 non-syndromic unisutural craniosynostosis +MONDO:0850075 non-syndromic unifrontosphenoidal craniosynostosis MONDO:0850072 Orphanet:620139 Orphanet:620096 non-syndromic unisutural craniosynostosis +MONDO:0850076 non-syndromic unisquamosal craniosynostosis MONDO:0850072 Orphanet:620146 Orphanet:620096 non-syndromic unisutural craniosynostosis +MONDO:0850077 non-syndromic multisutural craniosynostosis MONDO:0015337 Orphanet:620152 Orphanet:139390 isolated craniosynostosis +MONDO:0850078 non-syndromic non-specific multisutural craniosynostosis MONDO:0850077 Orphanet:620158 Orphanet:620152 non-syndromic multisutural craniosynostosis +MONDO:0850079 non-syndromic bilambdoid craniosynostosis MONDO:0850077 Orphanet:620178 Orphanet:620152 non-syndromic multisutural craniosynostosis +MONDO:0850080 non-syndromic unicoronal and sagittal craniosynostosis MONDO:0850077 Orphanet:620186 Orphanet:620152 non-syndromic multisutural craniosynostosis +MONDO:0850081 non-syndromic metopic and sagittal craniosynostosis MONDO:0850077 Orphanet:620192 Orphanet:620152 non-syndromic multisutural craniosynostosis +MONDO:0850082 non-syndromic bicoronal and metopic craniosynostosis MONDO:0850077 Orphanet:620198 Orphanet:620152 non-syndromic multisutural craniosynostosis +MONDO:0850083 non-syndromic bicoronal and sagittal craniosynostosis MONDO:0850077 Orphanet:620205 Orphanet:620152 non-syndromic multisutural craniosynostosis +MONDO:0850084 non-syndromic pansynostosis MONDO:0850077 Orphanet:620212 Orphanet:620152 non-syndromic multisutural craniosynostosis +MONDO:0850087 primary hypomagnesemia-generalized seizures-intellectual disability-obesity syndrome MONDO:0015962 Orphanet:620363 Orphanet:183592 inherited renal tubular disease +MONDO:0850087 primary hypomagnesemia-generalized seizures-intellectual disability-obesity syndrome MONDO:0017765 Orphanet:620363 Orphanet:309848 disorder of magnesium transport +MONDO:0850089 Gitelman-like kidney tubulopathy due to mitochondrial DNA mutation MONDO:0015962 Orphanet:620371 Orphanet:183592 inherited renal tubular disease +MONDO:0850090 fibrosis-neurodegeneration-cerebral angiomatosis syndrome MONDO:0017019 Orphanet:621758 Orphanet:264694 interstitial lung disease specific to infancy +MONDO:0850090 fibrosis-neurodegeneration-cerebral angiomatosis syndrome MONDO:0024237 Orphanet:621758 Orphanet:183500 inherited neurodegenerative disorder +MONDO:0850095 X-linked severe syndromic thoracic aortic aneurysm and dissection MONDO:0017310 Orphanet:622925 Orphanet:284993 Marfan and Marfan-related disorder +MONDO:0850096 SBDS-related severe neonatal spondylometaphyseal dysplasia MONDO:0019694 Orphanet:622934 Orphanet:93434 spondylodysplastic dysplasia +MONDO:0850097 autoimmune limbic encephalitis MONDO:0018215 Orphanet:623615 Orphanet:36388 paraneoplastic neurologic syndrome +MONDO:0850099 MIR140-related spondyloepiphyseal dysplasia MONDO:0019695 Orphanet:623695 Orphanet:93436 acromelic dysplasia +MONDO:0850102 non-specific autoimmune supratentorial encephalitis with characteristic antibodies MONDO:0018215 Orphanet:624166 Orphanet:36388 paraneoplastic neurologic syndrome +MONDO:0850102 non-specific autoimmune supratentorial encephalitis with characteristic antibodies MONDO:0020640 Orphanet:624166 Orphanet:622014 autoimmune encephalitis +MONDO:0850103 non-specific autoimmune supratentorial encephalitis without characteristic antibodies MONDO:0018215 Orphanet:624178 Orphanet:36388 paraneoplastic neurologic syndrome +MONDO:0850103 non-specific autoimmune supratentorial encephalitis without characteristic antibodies MONDO:0020640 Orphanet:624178 Orphanet:622014 autoimmune encephalitis +MONDO:0850104 paraneoplastic isolated brainstem encephalitis MONDO:0018215 Orphanet:624190 Orphanet:36388 paraneoplastic neurologic syndrome +MONDO:0850104 paraneoplastic isolated brainstem encephalitis MONDO:0020640 Orphanet:624190 Orphanet:622014 autoimmune encephalitis +MONDO:0850105 non-specific autoimmune brainstem encephalitis with characteristic antibodies MONDO:0020640 Orphanet:624199 Orphanet:622014 autoimmune encephalitis +MONDO:0850106 non-specific autoimmune brainstem encephalitis without characteristic antibodies MONDO:0020640 Orphanet:624216 Orphanet:622014 autoimmune encephalitis +MONDO:0850107 postinfectious cerebellitis MONDO:0859692 Orphanet:624244 Orphanet:623638 immune-mediated cerebellar ataxia +MONDO:0850108 non-specific autoimmune cerebellar ataxia with characteristic antibodies MONDO:0859692 Orphanet:624259 Orphanet:623638 immune-mediated cerebellar ataxia +MONDO:0850109 non-specific autoimmune cerebellar ataxia without characteristic antibodies MONDO:0859692 Orphanet:624268 Orphanet:623638 immune-mediated cerebellar ataxia +MONDO:0859003 PAICS deficiency MONDO:0043009 Orphanet:633099 Orphanet:471383 hereditary lethal multiple congenital anomalies/dysmorphic syndrome +MONDO:0859007 mosaic Legius syndrome MONDO:0021060 Orphanet:634511 Orphanet:536391 RASopathy +MONDO:0859139 blepharophimosis-impaired intellectual development syndrome MONDO:0017393 Orphanet:637013 Orphanet:293642 blepharophimosis - intellectual disability syndrome +MONDO:0859692 immune-mediated cerebellar ataxia MONDO:0020640 Orphanet:623638 Orphanet:622014 autoimmune encephalitis +MONDO:0957403 periodic fever syndrome of childhood MONDO:0957018 Orphanet:324939 Orphanet:319719 autoinflammatory syndrome of childhood +MONDO:0957405 granulomatous autoinflammatory syndrome of childhood MONDO:0957018 Orphanet:324950 Orphanet:319719 autoinflammatory syndrome of childhood +MONDO:0957408 type 1 interferonopathy of childhood MONDO:0957018 Orphanet:481671 Orphanet:319719 autoinflammatory syndrome of childhood +MONDO:0957423 immunotherapy induced hypophysitis MONDO:0019832 Orphanet:641350 Orphanet:95502 acquired pituitary hormone deficiency +MONDO:0957427 B-lymphoblastic leukemia/lymphoma with t(7;9)(q11.2;p13.2) MONDO:0035605 Orphanet:641372 Orphanet:585877 B-lymphoblastic leukemia/lymphoma with recurrent genetic abnormality +MONDO:0957428 B-lymphoblastic leukemia/lymphoma with t(17;19) MONDO:0035605 Orphanet:641375 Orphanet:585877 B-lymphoblastic leukemia/lymphoma with recurrent genetic abnormality +MONDO:0957433 primary pulmonary vein stenosis MONDO:0017864 Orphanet:642071 Orphanet:3188 congenital pulmonary veins atresia or stenosis +MONDO:0957442 autosomal recessive ataxia due to PEX16 deficiency MONDO:0019053 Orphanet:642954 Orphanet:68373 peroxisomal disease +MONDO:0957442 autosomal recessive ataxia due to PEX16 deficiency MONDO:0020044 Orphanet:642954 Orphanet:98096 autosomal recessive metabolic cerebellar ataxia +MONDO:0957443 autosomal recessive ataxia due to PEX2 deficiency MONDO:0019053 Orphanet:642965 Orphanet:68373 peroxisomal disease +MONDO:0957443 autosomal recessive ataxia due to PEX2 deficiency MONDO:0020044 Orphanet:642965 Orphanet:98096 autosomal recessive metabolic cerebellar ataxia +MONDO:0957473 craniosynostosis-facial dysmorphism-chiari-1 malformation-developmental and language delay syndrome MONDO:0015338 Orphanet:647681 Orphanet:139393 syndromic craniosynostosis +MONDO:8000012 neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset 1 MONDO:0015159 Orphanet:456312 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability diff --git a/src/ontology/reports/ordo.subclass.confirmed.robot.tsv b/src/ontology/reports/ordo.subclass.confirmed.robot.tsv index 87ea194c..a508367e 100644 --- a/src/ontology/reports/ordo.subclass.confirmed.robot.tsv +++ b/src/ontology/reports/ordo.subclass.confirmed.robot.tsv @@ -42,7 +42,6 @@ MONDO:0002876 cervical adenosarcoma MONDO:0016277 Orphanet:213792 Orphanet:21378 MONDO:0002877 cervical carcinosarcoma MONDO:0016277 Orphanet:213787 Orphanet:213782 malignant mixed epithelial and mesenchymal tumor of cervix uteri MONDO:0003010 multilocular clear cell renal cell carcinoma MONDO:0005005 Orphanet:319287 Orphanet:319276 clear cell renal carcinoma MONDO:0003011 mucinous tubular and spindle renal cell carcinoma MONDO:0005086 Orphanet:319322 Orphanet:217071 renal cell carcinoma -MONDO:0003144 medulloepithelioma MONDO:0016713 Orphanet:251883 Orphanet:251870 central nervous system Ewing sarcoma/peripheral primitive neuroectodermal tumor MONDO:0003266 ependymal tumor MONDO:0021042 Orphanet:301 Orphanet:182067 glioma MONDO:0003360 small intestine leiomyosarcoma MONDO:0018506 Orphanet:104076 Orphanet:423798 mesenchymal tumor of small intestine MONDO:0003429 functioning pituitary gland adenoma MONDO:0006373 Orphanet:314753 Orphanet:99408 pituitary gland adenoma @@ -366,7 +365,6 @@ MONDO:0007924 Bannayan-Riley-Ruvalcaba syndrome MONDO:0019716 Orphanet:109 Orpha MONDO:0007925 myelodysplastic syndrome associated with isolated del(5q) MONDO:0018881 Orphanet:86841 Orphanet:52688 myelodysplastic syndrome MONDO:0007927 congenital macroglossia MONDO:0015496 Orphanet:2430 Orphanet:156207 macroglossia MONDO:0007943 Nager acrofacial dysostosis MONDO:0015161 Orphanet:245 Orphanet:102285 multiple congenital anomalies/dysmorphic syndrome without intellectual disability -MONDO:0007943 Nager acrofacial dysostosis MONDO:0018237 Orphanet:245 Orphanet:364574 acrofacial dysostosis MONDO:0007947 Marfan syndrome MONDO:0017310 Orphanet:558 Orphanet:284993 Marfan and Marfan-related disorder MONDO:0007949 Marshall syndrome MONDO:0015161 Orphanet:560 Orphanet:102285 multiple congenital anomalies/dysmorphic syndrome without intellectual disability MONDO:0007949 Marshall syndrome MONDO:0019287 Orphanet:560 Orphanet:79373 ectodermal dysplasia syndrome @@ -381,7 +379,6 @@ MONDO:0007989 congenital microcoria MONDO:0011119 Orphanet:566 Orphanet:98634 ir MONDO:0007991 microcephaly-deafness-intellectual disability syndrome MONDO:0015159 Orphanet:2533 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability MONDO:0008004 familial mitral valve prolapse MONDO:0019817 Orphanet:741 Orphanet:95464 congenital mitral valve insufficiency and/or stenosis MONDO:0008016 trismus-pseudocamptodactyly syndrome MONDO:0019942 Orphanet:3377 Orphanet:97120 distal arthrogryposis -MONDO:0008018 Muir-Torre syndrome MONDO:0018630 Orphanet:587 Orphanet:443909 hereditary nonpolyposis colon cancer MONDO:0008019 mullerian aplasia and hyperandrogenism MONDO:0015830 Orphanet:247768 Orphanet:180068 partial bilateral aplasia of the mullerian ducts MONDO:0008023 muscular atrophy-ataxia-retinitis pigmentosa-diabetes mellitus syndrome MONDO:0100309 Orphanet:2579 Orphanet:183518 hereditary ataxia MONDO:0008026 autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures MONDO:0018190 Orphanet:209341 Orphanet:363447 autosomal dominant childhood-onset proximal spinal muscular atrophy @@ -403,7 +400,6 @@ MONDO:0008060 nonsyndromic congenital nail disorder 1 MONDO:0019284 Orphanet:791 MONDO:0008073 familial juvenile hyperuricemic nephropathy type 1 MONDO:0008264 Orphanet:88950 Orphanet:34149 autosomal dominant medullary cystic kidney disease with or without hyperuricemia MONDO:0008075 schwannomatosis MONDO:0019289 Orphanet:93921 Orphanet:79375 hyperpigmentation of the skin MONDO:0008082 multiple endocrine neoplasia type 2B MONDO:0019003 Orphanet:247709 Orphanet:653 multiple endocrine neoplasia type 2 -MONDO:0008083 ceroid lipofuscinosis, neuronal, 4 (Kufs type) MONDO:0019260 Orphanet:228343 Orphanet:79262 adult neuronal ceroid lipofuscinosis MONDO:0008087 hereditary neuropathy with liability to pressure palsies MONDO:0022754 Orphanet:640 Orphanet:261965 chromosome 17p deletion MONDO:0008090 cyclic hematopoiesis MONDO:0015134 Orphanet:2686 Orphanet:101987 constitutional neutropenia MONDO:0008094 familial multiple nevi flammei MONDO:0016231 Orphanet:624 Orphanet:211247 capillary malformation @@ -438,7 +434,6 @@ MONDO:0008221 prolidase deficiency MONDO:0019232 Orphanet:742 Orphanet:79187 inb MONDO:0008222 Andersen-Tawil syndrome MONDO:0000995 Orphanet:37553 Orphanet:371433 familial periodic paralysis MONDO:0008223 hypokalemic periodic paralysis MONDO:0000995 Orphanet:681 Orphanet:371433 familial periodic paralysis MONDO:0008224 hyperkalemic periodic paralysis MONDO:0000995 Orphanet:682 Orphanet:371433 familial periodic paralysis -MONDO:0008227 peripheral dysostosis MONDO:0019695 Orphanet:1795 Orphanet:93436 acromelic dysplasia MONDO:0008234 multiple endocrine neoplasia type 2A MONDO:0019003 Orphanet:247698 Orphanet:653 multiple endocrine neoplasia type 2 MONDO:0008244 piebaldism MONDO:0019290 Orphanet:2884 Orphanet:79376 hypopigmentation of the skin MONDO:0008245 piebald trait-neurologic defects syndrome MONDO:0019290 Orphanet:2885 Orphanet:79376 hypopigmentation of the skin @@ -606,10 +601,6 @@ MONDO:0008759 oxoglutaricaciduria MONDO:0016790 Orphanet:31 Orphanet:254749 tric MONDO:0008760 beta-ketothiolase deficiency MONDO:0019215 Orphanet:134 Orphanet:79163 classic organic aciduria MONDO:0008760 beta-ketothiolase deficiency MONDO:0019229 Orphanet:134 Orphanet:79183 inborn disorder of ketolysis MONDO:0008762 autosomal recessive Alport syndrome MONDO:0018965 Orphanet:88919 Orphanet:63 Alport syndrome -MONDO:0008767 neuronal ceroid lipofuscinosis 3 MONDO:0019262 Orphanet:228346 Orphanet:79264 juvenile neuronal ceroid lipofuscinosis -MONDO:0008768 ceroid lipofuscinosis, neuronal, 6B (Kufs type) MONDO:0019260 Orphanet:228340 Orphanet:79262 adult neuronal ceroid lipofuscinosis -MONDO:0008769 neuronal ceroid lipofuscinosis 2 MONDO:0015674 Orphanet:228349 Orphanet:168491 late infantile neuronal ceroid lipofuscinosis -MONDO:0008769 neuronal ceroid lipofuscinosis 2 MONDO:0019262 Orphanet:228349 Orphanet:79264 juvenile neuronal ceroid lipofuscinosis MONDO:0008774 2-aminoadipic 2-oxoadipic aciduria MONDO:0017351 Orphanet:79154 Orphanet:289832 inborn disorder of lysine and hydroxylysine metabolism MONDO:0008777 gelatinous drop-like corneal dystrophy MONDO:0020212 Orphanet:98957 Orphanet:98625 superficial corneal dystrophy MONDO:0008783 Tangier disease MONDO:0017773 Orphanet:31150 Orphanet:31153 hypoalphalipoproteinemia @@ -874,7 +865,6 @@ MONDO:0009485 oculocerebrofacial syndrome, Kaufman type MONDO:0015159 Orphanet:2 MONDO:0009486 autosomal recessive Kenny-Caffey syndrome MONDO:0016516 Orphanet:93324 Orphanet:2333 Kenny-Caffey syndrome MONDO:0009490 Papillon-Lefevre disease MONDO:0015978 Orphanet:678 Orphanet:183681 functional neutrophil defect MONDO:0009490 Papillon-Lefevre disease MONDO:0017739 Orphanet:678 Orphanet:309340 disorder of lysosomal-related organelles -MONDO:0009490 Papillon-Lefevre disease MONDO:0019287 Orphanet:678 Orphanet:79373 ectodermal dysplasia syndrome MONDO:0009491 Haim-Munk syndrome MONDO:0017739 Orphanet:2342 Orphanet:309340 disorder of lysosomal-related organelles MONDO:0009492 succinyl-CoA:3-ketoacid CoA transferase deficiency MONDO:0019229 Orphanet:832 Orphanet:79183 inborn disorder of ketolysis MONDO:0009493 Richards-Rundle syndrome MONDO:0100309 Orphanet:1399 Orphanet:183518 hereditary ataxia @@ -1001,7 +991,6 @@ MONDO:0009737 galactosialidosis MONDO:0800088 Orphanet:351 Orphanet:93448 lysoso MONDO:0009738 sialidosis type 2 MONDO:0017734 Orphanet:87876 Orphanet:309294 sialidosis MONDO:0009738 sialidosis type 2 MONDO:0800088 Orphanet:87876 Orphanet:93448 lysosomal storage disease with skeletal involvement MONDO:0009740 neurofaciodigitorenal syndrome MONDO:0015159 Orphanet:2673 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0009745 neuronal ceroid lipofuscinosis 5 MONDO:0015674 Orphanet:228360 Orphanet:168491 late infantile neuronal ceroid lipofuscinosis MONDO:0009747 mitochondrial DNA depletion syndrome 6 (hepatocerebral type) MONDO:0100512 Orphanet:255229 Orphanet:254871 mitochondrial DNA depletion syndrome, hepatocerebral form MONDO:0009760 Norman-Roberts syndrome MONDO:0015204 Orphanet:89844 Orphanet:1083 microlissencephaly MONDO:0009767 oculocerebral hypopigmentation syndrome, Cross type MONDO:0017305 Orphanet:2719 Orphanet:284811 syndromic oculocutaneous albinism @@ -1157,7 +1146,6 @@ MONDO:0010152 trichomegaly-retina pigmentary degeneration-dwarfism syndrome MOND MONDO:0010153 trichoodontoonychial dysplasia MONDO:0019287 Orphanet:3355 Orphanet:79373 ectodermal dysplasia syndrome MONDO:0010154 trigonocephaly-bifid nose-acral anomalies syndrome MONDO:0015161 Orphanet:3368 Orphanet:102285 multiple congenital anomalies/dysmorphic syndrome without intellectual disability MONDO:0010155 Dorfman-Chanarin disease MONDO:0015611 Orphanet:98907 Orphanet:165 neutral lipid storage disease -MONDO:0010159 mismatch repair cancer syndrome 1 MONDO:0015356 Orphanet:252202 Orphanet:140162 hereditary neoplastic syndrome MONDO:0010167 urocanic aciduria MONDO:0019228 Orphanet:210128 Orphanet:79181 inborn disorder of histidine metabolism MONDO:0010168 Usher syndrome type 1 MONDO:0019501 Orphanet:231169 Orphanet:886 Usher syndrome MONDO:0010173 Mayer-Rokitansky-Kuster-Hauser syndrome type 1 MONDO:0017771 Orphanet:247775 Orphanet:3109 Mayer-Rokitansky-Kuster-Hauser syndrome @@ -1319,7 +1307,7 @@ MONDO:0010689 Charcot-Marie-Tooth disease X-linked recessive 4 MONDO:0018994 Orp MONDO:0010699 Charcot-Marie-Tooth disease X-linked recessive 5 MONDO:0018994 Orphanet:99014 Orphanet:64747 Charcot-Marie-Tooth disease type X MONDO:0010699 Charcot-Marie-Tooth disease X-linked recessive 5 MONDO:0019236 Orphanet:99014 Orphanet:79191 inborn disorder of purine metabolism MONDO:0010706 premature ovarian failure 1 MONDO:0019852 Orphanet:642691 Orphanet:95710 inherited primary ovarian failure -MONDO:0010714 Pelizaeus-Merzbacher disease MONDO:0019046 Orphanet:702 Orphanet:68356 leukodystrophy +MONDO:0010714 Pelizeaus-Merzbacher spectrum disorder MONDO:0019046 Orphanet:702 Orphanet:68356 leukodystrophy MONDO:0010717 pyruvate dehydrogenase E1-alpha deficiency MONDO:0019169 Orphanet:79243 Orphanet:765 pyruvate dehydrogenase deficiency MONDO:0010720 partial androgen insensitivity syndrome MONDO:0019154 Orphanet:90797 Orphanet:754 androgen insensitivity syndrome MONDO:0010731 Simpson-Golabi-Behmel syndrome MONDO:0019716 Orphanet:373 Orphanet:93460 overgrowth syndrome @@ -1334,8 +1322,6 @@ MONDO:0010805 bladder exstrophy MONDO:0017919 Orphanet:93930 Orphanet:322 exstro MONDO:0010821 familial developmental dysphasia MONDO:0016226 Orphanet:1799 Orphanet:211053 specific language disorder MONDO:0010823 rhizomelic chondrodysplasia punctata type 3 MONDO:0015776 Orphanet:309803 Orphanet:177 rhizomelic chondrodysplasia punctata MONDO:0010825 atrioventricular defect-blepharophimosis-radial and anal defect syndrome MONDO:0015161 Orphanet:1352 Orphanet:102285 multiple congenital anomalies/dysmorphic syndrome without intellectual disability -MONDO:0010830 neuronal ceroid lipofuscinosis 8 MONDO:0015674 Orphanet:228354 Orphanet:168491 late infantile neuronal ceroid lipofuscinosis -MONDO:0010830 neuronal ceroid lipofuscinosis 8 MONDO:0019262 Orphanet:228354 Orphanet:79264 juvenile neuronal ceroid lipofuscinosis MONDO:0010831 familial caudal dysgenesis MONDO:0018639 Orphanet:1768 Orphanet:444941 caudal regression-sirenomelia spectrum MONDO:0010835 pterygium colli-intellectual disability-digital anomalies syndrome MONDO:0015159 Orphanet:2988 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability MONDO:0010839 neuronopathy, distal hereditary motor, autosomal dominant 8 MONDO:0015362 Orphanet:1216 Orphanet:140465 neuronopathy, distal hereditary motor, autosomal dominant @@ -1429,7 +1415,6 @@ MONDO:0011134 Curry-Jones syndrome MONDO:0015338 Orphanet:1553 Orphanet:139393 s MONDO:0011136 Quebec platelet disorder MONDO:0020117 Orphanet:220436 Orphanet:98455 alpha granule disease MONDO:0011142 Ehlers-Danlos syndrome, musculocontractural type MONDO:0019942 Orphanet:2953 Orphanet:97120 distal arthrogryposis MONDO:0011142 Ehlers-Danlos syndrome, musculocontractural type MONDO:0020066 Orphanet:2953 Orphanet:98249 Ehlers-Danlos syndrome -MONDO:0011144 ceroid lipofuscinosis, neuronal, 6A MONDO:0015674 Orphanet:228363 Orphanet:168491 late infantile neuronal ceroid lipofuscinosis MONDO:0011145 colobomatous microphthalmia - obesity - hypogenitalism - intellectual disability syndrome MONDO:0015159 Orphanet:363741 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability MONDO:0011146 tetrasomy 12p MONDO:0016933 Orphanet:884 Orphanet:262658 partial trisomy/tetrasomy of the short arm of chromosome 12 MONDO:0011147 chromosome 18q deletion syndrome MONDO:0016880 Orphanet:262146 Orphanet:261836 partial deletion of chromosome 18 @@ -1444,7 +1429,6 @@ MONDO:0011178 infantile convulsions and choreoathetosis MONDO:0015642 Orphanet:3 MONDO:0011184 childhood apraxia of speech MONDO:0016226 Orphanet:209908 Orphanet:211053 specific language disorder MONDO:0011185 Thiel-Behnke corneal dystrophy MONDO:0020212 Orphanet:98960 Orphanet:98625 superficial corneal dystrophy MONDO:0011190 nephronophthisis 2 MONDO:0019005 Orphanet:93591 Orphanet:655 nephronophthisis -MONDO:0011208 malignant atrophic papulosis MONDO:0019293 Orphanet:679 Orphanet:79379 skin vascular disease MONDO:0011211 axial spondylometaphyseal dysplasia MONDO:0016763 Orphanet:168549 Orphanet:254 spondylometaphyseal dysplasia MONDO:0011213 Pierpont syndrome MONDO:0015159 Orphanet:487825 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability MONDO:0011214 progressive familial intrahepatic cholestasis type 3 MONDO:0015762 Orphanet:79305 Orphanet:172 progressive familial intrahepatic cholestasis @@ -1581,6 +1565,7 @@ MONDO:0011781 spinocerebellar ataxia type 17 MONDO:0015548 Orphanet:98759 Orphan MONDO:0011781 spinocerebellar ataxia type 17 MONDO:0019792 Orphanet:98759 Orphanet:94145 autosomal dominant cerebellar ataxia type I MONDO:0011783 ALG12-congenital disorder of glycosylation MONDO:0017740 Orphanet:79324 Orphanet:309347 disorder of protein N-glycosylation MONDO:0011787 autosomal recessive limb-girdle muscular dystrophy type 2I MONDO:0015152 Orphanet:34515 Orphanet:102015 autosomal recessive limb-girdle muscular dystrophy +MONDO:0011787 autosomal recessive limb-girdle muscular dystrophy type 2I MONDO:0016156 Orphanet:34515 Orphanet:207119 qualitative or quantitative defects of FKRP MONDO:0011788 cloverleaf skull-multiple congenital anomalies syndrome MONDO:0015338 Orphanet:93267 Orphanet:139393 syndromic craniosynostosis MONDO:0011795 anonychia-microcephaly syndrome MONDO:0015161 Orphanet:1094 Orphanet:102285 multiple congenital anomalies/dysmorphic syndrome without intellectual disability MONDO:0011801 spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1 MONDO:0020127 Orphanet:94124 Orphanet:98497 hereditary peripheral neuropathy @@ -1679,7 +1664,6 @@ MONDO:0012160 spondylometaphyseal dysplasia-cone-rod dystrophy syndrome MONDO:00 MONDO:0012165 BNAR syndrome MONDO:0015161 Orphanet:217266 Orphanet:102285 multiple congenital anomalies/dysmorphic syndrome without intellectual disability MONDO:0012172 mitochondrial trifunctional protein deficiency MONDO:0009637 Orphanet:746 Orphanet:206966 inborn mitochondrial myopathy MONDO:0012185 spondylometaphyseal dysplasia, A4 type MONDO:0016763 Orphanet:168555 Orphanet:254 spondylometaphyseal dysplasia -MONDO:0012188 neuronal ceroid lipofuscinosis 9 MONDO:0019262 Orphanet:228357 Orphanet:79264 juvenile neuronal ceroid lipofuscinosis MONDO:0012192 permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome MONDO:0016391 Orphanet:65288 Orphanet:224 neonatal diabetes mellitus MONDO:0012193 autosomal dominant limb-girdle muscular dystrophy type 1G MONDO:0015151 Orphanet:55596 Orphanet:102014 muscular dystrophy, limb-girdle, autosomal dominant MONDO:0012195 arthrogryposis-severe scoliosis syndrome MONDO:0019942 Orphanet:65720 Orphanet:97120 distal arthrogryposis @@ -1687,7 +1671,6 @@ MONDO:0012197 idiopathic aplastic anemia MONDO:0015610 Orphanet:88 Orphanet:1648 MONDO:0012204 familial pseudohyperkalemia MONDO:0020102 Orphanet:90044 Orphanet:98365 hereditary stomatocytosis MONDO:0012206 Czech dysplasia, metatarsal type MONDO:0022800 Orphanet:137678 Orphanet:93421 type 2 collagenopathy MONDO:0012211 MPDU1-congenital disorder of glycosylation MONDO:0017749 Orphanet:79323 Orphanet:309526 disorder of multiple glycosylation -MONDO:0012215 myofibrillar myopathy 3 MONDO:0015151 Orphanet:266 Orphanet:102014 muscular dystrophy, limb-girdle, autosomal dominant MONDO:0012215 myofibrillar myopathy 3 MONDO:0016108 Orphanet:98911 Orphanet:206650 autosomal dominant distal myopathy MONDO:0012220 Griscelli syndrome type 3 MONDO:0018306 Orphanet:79478 Orphanet:381 Griscelli syndrome MONDO:0012221 alpha-N-acetylgalactosaminidase deficiency type 1 MONDO:0017779 Orphanet:79279 Orphanet:3137 alpha-N-acetylgalactosaminidase deficiency @@ -1738,9 +1721,6 @@ MONDO:0012407 pyridoxal phosphate-responsive seizures MONDO:0019237 Orphanet:790 MONDO:0012410 Finnish upper limb-onset distal myopathy MONDO:0016108 Orphanet:399086 Orphanet:206650 autosomal dominant distal myopathy MONDO:0012411 giant axonal neuropathy 2 MONDO:0018993 Orphanet:401964 Orphanet:64746 Charcot-Marie-Tooth disease type 2 MONDO:0012413 syndromic microphthalmia type 5 MONDO:0016073 Orphanet:178364 Orphanet:202948 syndromic microphthalmia -MONDO:0012414 neuronal ceroid lipofuscinosis 10 MONDO:0015674 Orphanet:228337 Orphanet:168491 late infantile neuronal ceroid lipofuscinosis -MONDO:0012414 neuronal ceroid lipofuscinosis 10 MONDO:0019260 Orphanet:228337 Orphanet:79262 adult neuronal ceroid lipofuscinosis -MONDO:0012414 neuronal ceroid lipofuscinosis 10 MONDO:0019262 Orphanet:228337 Orphanet:79264 juvenile neuronal ceroid lipofuscinosis MONDO:0012417 heart-hand syndrome, Slovenian type MONDO:0016432 Orphanet:168796 Orphanet:228184 heart-hand syndrome MONDO:0012435 3-methylglutaconic aciduria type 5 MONDO:0017359 Orphanet:66634 Orphanet:289902 3-methylglutaconic aciduria MONDO:0012439 Alagille syndrome due to a NOTCH2 point mutation MONDO:0007318 Orphanet:261629 Orphanet:52 Alagille syndrome @@ -1766,7 +1746,6 @@ MONDO:0012552 multiple endocrine neoplasia type 4 MONDO:0017169 Orphanet:276152 MONDO:0012556 DK1-congenital disorder of glycosylation MONDO:0017749 Orphanet:91131 Orphanet:309526 disorder of multiple glycosylation MONDO:0012557 cardiomyopathy-hypotonia-lactic acidosis syndrome MONDO:0016801 Orphanet:91130 Orphanet:254830 mitochondrial substrate carrier disorder MONDO:0012574 Potocki-Lupski syndrome MONDO:0016950 Orphanet:1713 Orphanet:262803 partial duplication of the short arm of chromosome 17 -MONDO:0012588 neuronal ceroid lipofuscinosis 7 MONDO:0015674 Orphanet:228366 Orphanet:168491 late infantile neuronal ceroid lipofuscinosis MONDO:0012589 Pitt-Hopkins syndrome MONDO:0015159 Orphanet:2896 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability MONDO:0012611 polyhydramnios, megalencephaly, and symptomatic epilepsy MONDO:0015653 Orphanet:500533 Orphanet:166472 monogenic epilepsy MONDO:0012621 deafness-infertility syndrome MONDO:0016913 Orphanet:94064 Orphanet:262119 partial deletion of the long arm of chromosome 15 @@ -1867,7 +1846,6 @@ MONDO:0013110 neurodegenerative syndrome due to cerebral folate transport defici MONDO:0013110 neurodegenerative syndrome due to cerebral folate transport deficiency MONDO:0024237 Orphanet:217382 Orphanet:183500 inherited neurodegenerative disorder MONDO:0013116 congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome MONDO:0009637 Orphanet:330054 Orphanet:206966 inborn mitochondrial myopathy MONDO:0013118 Nijmegen breakage syndrome-like disorder MONDO:0015161 Orphanet:240760 Orphanet:102285 multiple congenital anomalies/dysmorphic syndrome without intellectual disability -MONDO:0013125 CLAPO syndrome MONDO:0019716 Orphanet:168984 Orphanet:93460 overgrowth syndrome MONDO:0013132 hereditary spastic paraplegia 36 MONDO:0015087 Orphanet:320365 Orphanet:100979 autosomal dominant complex spastic paraplegia MONDO:0013136 hereditary hypotrichosis with recurrent skin vesicles MONDO:0004907 Orphanet:217407 Orphanet:79364 alopecia MONDO:0013161 autosomal recessive limb-girdle muscular dystrophy type 2O MONDO:0015152 Orphanet:206564 Orphanet:102015 autosomal recessive limb-girdle muscular dystrophy @@ -2010,7 +1988,6 @@ MONDO:0013837 deafness-encephaloneuropathy-obesity-valvulopathy syndrome MONDO:0 MONDO:0013840 encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome MONDO:0018151 Orphanet:319678 Orphanet:35656 coenzyme Q10 deficiency MONDO:0013847 chromosome 16p11.2 duplication syndrome MONDO:0016949 Orphanet:370079 Orphanet:262794 partial duplication of the short arm of chromosome 16 MONDO:0013851 autosomal dominant aplasia and myelodysplasia MONDO:0001713 Orphanet:314399 Orphanet:68383 inherited aplastic anemia -MONDO:0013866 neuronal ceroid lipofuscinosis 11 MONDO:0019260 Orphanet:314629 Orphanet:79262 adult neuronal ceroid lipofuscinosis MONDO:0013867 brown-Vialetto-van Laere syndrome 2 MONDO:0008891 Orphanet:572550 Orphanet:97229 riboflavin transporter deficiency MONDO:0013869 adenine phosphoribosyltransferase deficiency MONDO:0019236 Orphanet:976 Orphanet:79191 inborn disorder of purine metabolism MONDO:0013870 TMEM165-congenital disorder of glycosylation MONDO:0017740 Orphanet:314667 Orphanet:309347 disorder of protein N-glycosylation @@ -2033,7 +2010,6 @@ MONDO:0013970 branched-chain keto acid dehydrogenase kinase deficiency MONDO:001 MONDO:0013971 leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome MONDO:0019046 Orphanet:314051 Orphanet:68356 leukodystrophy MONDO:0013972 Perrault syndrome 2 MONDO:0017312 Orphanet:642976 Orphanet:2855 Perrault syndrome MONDO:0013990 pontocerebellar hypoplasia type 8 MONDO:0020135 Orphanet:324569 Orphanet:98523 pontocerebellar hypoplasia -MONDO:0013991 obesity due to congenital leptin deficiency MONDO:0020075 Orphanet:66628 Orphanet:98267 hereditary non-syndromic obesity MONDO:0013993 pontocerebellar hypoplasia type 7 MONDO:0020135 Orphanet:284339 Orphanet:98523 pontocerebellar hypoplasia MONDO:0013997 focal facial dermal dysplasia type IV MONDO:0018363 Orphanet:398189 Orphanet:398166 focal facial dermal dysplasia MONDO:0014005 immunoglobulin-mediated membranoproliferative glomerulonephritis MONDO:0018904 Orphanet:329903 Orphanet:54370 primary membranoproliferative glomerulonephritis @@ -2064,7 +2040,6 @@ MONDO:0014127 oculocutaneous albinism type 5 MONDO:0018910 Orphanet:370091 Orpha MONDO:0014132 multiple mitochondrial dysfunctions syndrome 3 MONDO:0017338 Orphanet:363424 Orphanet:289573 fatal multiple mitochondrial dysfunctions syndrome MONDO:0014142 autosomal recessive limb-girdle muscular dystrophy type 2T MONDO:0015152 Orphanet:363623 Orphanet:102015 autosomal recessive limb-girdle muscular dystrophy MONDO:0014144 autosomal recessive limb-girdle muscular dystrophy type R18 MONDO:0015152 Orphanet:369840 Orphanet:102015 autosomal recessive limb-girdle muscular dystrophy -MONDO:0014147 neuronal ceroid lipofuscinosis 13 MONDO:0019260 Orphanet:352709 Orphanet:79262 adult neuronal ceroid lipofuscinosis MONDO:0014149 fetal akinesia-cerebral and retinal hemorrhage syndrome MONDO:0019952 Orphanet:363409 Orphanet:97245 congenital myopathy MONDO:0014154 Charcot-Marie-Tooth disease recessive intermediate C MONDO:0017058 Orphanet:369867 Orphanet:268337 autosomal recessive intermediate Charcot-Marie-Tooth disease MONDO:0014157 mandibular hypoplasia-deafness-progeroid syndrome MONDO:0019303 Orphanet:363649 Orphanet:79389 premature aging syndrome @@ -2099,7 +2074,6 @@ MONDO:0014290 neurodegeneration with brain iron accumulation 6 MONDO:0018307 Orp MONDO:0014292 leukoencephalopathy with mild cerebellar ataxia and white matter edema MONDO:0019046 Orphanet:363540 Orphanet:68356 leukodystrophy MONDO:0014294 chromosome 15q11.2 deletion syndrome MONDO:0016913 Orphanet:261183 Orphanet:262119 partial deletion of the long arm of chromosome 15 MONDO:0014298 chromosome 5q12 deletion syndrome MONDO:0015159 Orphanet:439822 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0014309 obesity due to CEP19 deficiency MONDO:0020075 Orphanet:397615 Orphanet:98267 hereditary non-syndromic obesity MONDO:0014310 hereditary sclerosing poikiloderma with tendon and pulmonary involvement MONDO:0016382 Orphanet:221043 Orphanet:222628 hereditary poikiloderma MONDO:0014311 autosomal recessive spinocerebellar ataxia 15 MONDO:0018446 Orphanet:404499 Orphanet:404481 autosomal recessive cerebellar ataxia - epilepsy - intellectual disability syndrome MONDO:0014317 pancytopenia-developmental delay syndrome MONDO:0001713 Orphanet:401764 Orphanet:68383 inherited aplastic anemia @@ -2256,7 +2230,7 @@ MONDO:0015003 dystonia, childhood-onset, with optic atrophy and basal ganglia ab MONDO:0015003 dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities MONDO:0024237 Orphanet:508093 Orphanet:183500 inherited neurodegenerative disorder MONDO:0015007 spastic paraplegia, intellectual disability, nystagmus, and obesity MONDO:0015087 Orphanet:521390 Orphanet:100979 autosomal dominant complex spastic paraplegia MONDO:0015010 atypical glycine encephalopathy MONDO:0011612 Orphanet:289863 Orphanet:407 glycine encephalopathy -MONDO:0015012 mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders MONDO:0015159 Orphanet:505248 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0015012 mucopolysaccharidosis-plus syndrome MONDO:0015159 Orphanet:505248 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability MONDO:0015027 familial isolated hyperparathyroidism MONDO:0016365 Orphanet:99879 Orphanet:2207 familial primary hyperparathyroidism MONDO:0015028 48,XXYY syndrome MONDO:0017975 Orphanet:10 Orphanet:325546 sex chromosome disorder of sex development MONDO:0015029 reticular perineurioma MONDO:0015031 Orphanet:100000 Orphanet:100002 extraneural perineurioma @@ -2890,7 +2864,6 @@ MONDO:0016709 anaplastic/large cell medulloblastoma MONDO:0007959 Orphanet:25185 MONDO:0016710 medulloblastoma with extensive nodularity MONDO:0007959 Orphanet:251858 Orphanet:616 medulloblastoma MONDO:0016711 desmoplastic/nodular medulloblastoma MONDO:0007959 Orphanet:251863 Orphanet:616 medulloblastoma MONDO:0016712 classic medulloblastoma MONDO:0007959 Orphanet:251867 Orphanet:616 medulloblastoma -MONDO:0016715 ependymoblastoma MONDO:0016713 Orphanet:251880 Orphanet:251870 central nervous system Ewing sarcoma/peripheral primitive neuroectodermal tumor MONDO:0016719 microcephaly-seizures-intellectual disability-heart disease syndrome MONDO:0015159 Orphanet:2519 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability MONDO:0016730 gangliocytoma MONDO:0016729 Orphanet:251937 Orphanet:251934 mixed neuronal-glial tumor MONDO:0016731 desmoplastic infantile astrocytoma/ganglioglioma MONDO:0016729 Orphanet:251940 Orphanet:251934 mixed neuronal-glial tumor @@ -3104,11 +3077,11 @@ MONDO:0017216 calciphylaxis cutis MONDO:0017215 Orphanet:280065 Orphanet:280062 MONDO:0017216 calciphylaxis cutis MONDO:0019293 Orphanet:280065 Orphanet:79379 skin vascular disease MONDO:0017217 visceral calciphylaxis MONDO:0017215 Orphanet:280068 Orphanet:280062 calciphylaxis MONDO:0017220 laryngotracheoesophageal cleft type 0 MONDO:0016060 Orphanet:280205 Orphanet:2004 laryngotracheoesophageal cleft -MONDO:0017221 Pelizaeus-Merzbacher disease, connatal form MONDO:0010714 Orphanet:280210 Orphanet:702 Pelizaeus-Merzbacher disease -MONDO:0017222 Pelizaeus-Merzbacher disease, classic form MONDO:0010714 Orphanet:280219 Orphanet:702 Pelizaeus-Merzbacher disease -MONDO:0017223 Pelizaeus-Merzbacher disease, transitional form MONDO:0010714 Orphanet:280224 Orphanet:702 Pelizaeus-Merzbacher disease -MONDO:0017224 Pelizaeus-Merzbacher disease in female carriers MONDO:0010714 Orphanet:280229 Orphanet:702 Pelizaeus-Merzbacher disease -MONDO:0017225 null syndrome MONDO:0010714 Orphanet:280234 Orphanet:702 Pelizaeus-Merzbacher disease +MONDO:0017221 Pelizaeus-Merzbacher disease, connatal form MONDO:0010714 Orphanet:280210 Orphanet:702 Pelizeaus-Merzbacher spectrum disorder +MONDO:0017222 Pelizaeus-Merzbacher disease, classic form MONDO:0010714 Orphanet:280219 Orphanet:702 Pelizeaus-Merzbacher spectrum disorder +MONDO:0017223 Pelizaeus-Merzbacher disease, transitional form MONDO:0010714 Orphanet:280224 Orphanet:702 Pelizeaus-Merzbacher spectrum disorder +MONDO:0017224 Pelizaeus-Merzbacher disease in female carriers MONDO:0010714 Orphanet:280229 Orphanet:702 Pelizeaus-Merzbacher spectrum disorder +MONDO:0017225 null syndrome MONDO:0010714 Orphanet:280234 Orphanet:702 Pelizeaus-Merzbacher spectrum disorder MONDO:0017226 Pelizaeus-Merzbacher-like disease MONDO:0019046 Orphanet:280270 Orphanet:68356 leukodystrophy MONDO:0017227 autoimmune pancreatitis type 1 MONDO:0015175 Orphanet:280302 Orphanet:103919 autoimmune pancreatitis MONDO:0017228 autoimmune pancreatitis type 2 MONDO:0015175 Orphanet:280315 Orphanet:103919 autoimmune pancreatitis @@ -3311,7 +3284,6 @@ MONDO:0017723 Sandhoff disease, adult form MONDO:0010006 Orphanet:309169 Orphane MONDO:0017724 Tay-Sachs disease, b variant, infantile form MONDO:0010100 Orphanet:309178 Orphanet:845 Tay-Sachs disease MONDO:0017725 Tay-Sachs disease, b variant, juvenile form MONDO:0010100 Orphanet:309185 Orphanet:845 Tay-Sachs disease MONDO:0017726 Tay-Sachs disease, B variant, adult form MONDO:0010100 Orphanet:309192 Orphanet:845 Tay-Sachs disease -MONDO:0017728 Tay-Sachs disease, B1 variant MONDO:0010100 Orphanet:309239 Orphanet:845 Tay-Sachs disease MONDO:0017731 glycoproteinosis MONDO:0002561 Orphanet:309279 Orphanet:68366 lysosomal storage disease MONDO:0017732 alpha-mannosidosis, infantile form MONDO:0009561 Orphanet:309282 Orphanet:61 alpha-mannosidosis MONDO:0017733 alpha-mannosidosis, adult form MONDO:0009561 Orphanet:309288 Orphanet:61 alpha-mannosidosis @@ -3427,7 +3399,6 @@ MONDO:0017973 non-classic congenital lipoid adrenal hyperplasia due to STAR defi MONDO:0017975 sex chromosome disorder of sex development MONDO:0002145 Orphanet:325546 Orphanet:90771 disorder of sexual differentiation MONDO:0017979 autoimmune lymphoproliferative syndrome MONDO:0016537 Orphanet:3261 Orphanet:238510 lymphoproliferative syndrome MONDO:0017991 Takayasu arteritis MONDO:0015236 Orphanet:99079 Orphanet:1132 aortic arch defects -MONDO:0017994 severe early-onset obesity-insulin resistance syndrome due to SH2B1 deficiency MONDO:0020075 Orphanet:329249 Orphanet:98267 hereditary non-syndromic obesity MONDO:0017997 telecanthus-hypertelorism-strabismus-pes cavus syndrome MONDO:0015159 Orphanet:3293 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability MONDO:0017998 PLA2G6-associated neurodegeneration MONDO:0018307 Orphanet:329303 Orphanet:385 neurodegeneration with brain iron accumulation MONDO:0017999 fatty acid hydroxylase-associated neurodegeneration MONDO:0018307 Orphanet:329308 Orphanet:385 neurodegeneration with brain iron accumulation @@ -3535,7 +3506,6 @@ MONDO:0018225 ALK-positive large B-cell lymphoma MONDO:0018905 Orphanet:364043 O MONDO:0018227 hypocomplementemic urticarial vasculitis MONDO:0015491 Orphanet:36412 Orphanet:156149 immune complex mediated vasculitis MONDO:0018229 Stevens-Johnson syndrome MONDO:0019810 Orphanet:36426 Orphanet:95455 toxic epidermal necrolysis MONDO:0018233 otopalatodigital syndrome spectrum disorder MONDO:0019690 Orphanet:364541 Orphanet:93425 filamin-related bone disorder -MONDO:0018244 obesity due to SIM1 deficiency MONDO:0020075 Orphanet:369873 Orphanet:98267 hereditary non-syndromic obesity MONDO:0018247 CADDS MONDO:0015327 Orphanet:369942 Orphanet:139009 developmental anomaly of metabolic origin MONDO:0018247 CADDS MONDO:0019046 Orphanet:369942 Orphanet:68356 leukodystrophy MONDO:0018247 CADDS MONDO:0019053 Orphanet:369942 Orphanet:68373 peroxisomal disease @@ -3735,7 +3705,6 @@ MONDO:0018778 intermediate Charcot-Marie-Tooth disease MONDO:0015626 Orphanet:47 MONDO:0018781 KID syndrome MONDO:0019287 Orphanet:477 Orphanet:79373 ectodermal dysplasia syndrome MONDO:0018804 MYO5B-related progressive familial intrahepatic cholestasis MONDO:0015762 Orphanet:480491 Orphanet:172 progressive familial intrahepatic cholestasis MONDO:0018810 lethal hydranencephaly-diaphragmatic hernia syndrome MONDO:0043009 Orphanet:480528 Orphanet:471383 hereditary lethal multiple congenital anomalies/dysmorphic syndrome -MONDO:0018812 MSH3-related attenuated familial adenomatous polyposis MONDO:0016362 Orphanet:480536 Orphanet:220460 attenuated familial adenomatous polyposis MONDO:0018813 high grade B-cell lymphoma with MYC and/ or BCL2 and/or BCL6 rearrangement MONDO:0017595 Orphanet:480541 Orphanet:300846 aggressive B-cell non-Hodgkin lymphoma MONDO:0018814 non-SCID combined immunodeficiency MONDO:0015131 Orphanet:480549 Orphanet:101972 combined immunodeficiency MONDO:0018815 aneurysmal bone cyst MONDO:0019060 Orphanet:480553 Orphanet:68411 bone neoplasm @@ -3833,7 +3802,6 @@ MONDO:0019008 benign recurrent intrahepatic cholestasis MONDO:0017290 Orphanet:6 MONDO:0019008 benign recurrent intrahepatic cholestasis MONDO:0017755 Orphanet:65682 Orphanet:309816 inborn disorder of bilirubin metabolism MONDO:0019009 isolated focal cortical dysplasia MONDO:0017094 Orphanet:65683 Orphanet:268950 cerebral cortical dysplasia MONDO:0019010 congenital isolated hyperinsulinism MONDO:0017182 Orphanet:657 Orphanet:276525 familial hyperinsulinism -MONDO:0019010 congenital isolated hyperinsulinism MONDO:0019716 Orphanet:657 Orphanet:93460 overgrowth syndrome MONDO:0019016 maternally-inherited progressive external ophthalmoplegia MONDO:0009637 Orphanet:663 Orphanet:206966 inborn mitochondrial myopathy MONDO:0019023 cutaneous mastocytosis MONDO:0007950 Orphanet:66646 Orphanet:98292 mastocytosis MONDO:0019024 mast cell sarcoma MONDO:0007950 Orphanet:66661 Orphanet:98292 mastocytosis @@ -3867,6 +3835,8 @@ MONDO:0019141 porokeratosis of Mibelli MONDO:0006602 Orphanet:735 Orphanet:79358 MONDO:0019142 inherited porphyria MONDO:0015951 Orphanet:738 Orphanet:183490 hereditary photodermatosis MONDO:0019142 inherited porphyria MONDO:0017754 Orphanet:738 Orphanet:309813 inborn disorder of porphyrin metabolism MONDO:0019146 inherited susceptibility to mycobacterial diseases MONDO:0015979 Orphanet:748 Orphanet:183710 hereditary predisposition to infections +MONDO:0019148 Wolman disease MONDO:0800449 Orphanet:75233 Orphanet:275761 lysosomal acid lipase deficiency +MONDO:0019149 cholesteryl ester storage disease MONDO:0800449 Orphanet:75234 Orphanet:275761 lysosomal acid lipase deficiency MONDO:0019153 brain malformation-congenital heart disease-postaxial polydactyly syndrome MONDO:0015159 Orphanet:75389 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability MONDO:0019157 myelodysplastic syndrome with ring sideroblasts MONDO:0015194 Orphanet:75564 Orphanet:1047 sideroblastic anemia MONDO:0019157 myelodysplastic syndrome with ring sideroblasts MONDO:0018881 Orphanet:75564 Orphanet:52688 myelodysplastic syndrome @@ -4278,7 +4248,6 @@ MONDO:0020072 childhood-onset epilepsy syndrome MONDO:0015650 Orphanet:98259 Orp MONDO:0020073 adolescent-onset epilepsy syndrome MONDO:0015650 Orphanet:98260 Orphanet:166463 epilepsy syndrome MONDO:0020074 progressive myoclonus epilepsy MONDO:0020072 Orphanet:98261 Orphanet:98259 childhood-onset epilepsy syndrome MONDO:0020074 progressive myoclonus epilepsy MONDO:0020073 Orphanet:98261 Orphanet:98260 adolescent-onset epilepsy syndrome -MONDO:0020075 hereditary non-syndromic obesity MONDO:0019182 Orphanet:98267 Orphanet:77828 inherited obesity MONDO:0020076 myeloproliferative neoplasm MONDO:0015756 Orphanet:98274 Orphanet:171895 myeloid hemopathy MONDO:0020077 myelodysplastic/myeloproliferative disease MONDO:0015756 Orphanet:98275 Orphanet:171895 myeloid hemopathy MONDO:0020082 dendritic cell tumor MONDO:0006247 Orphanet:98289 Orphanet:98287 histiocytic and dendritic cell neoplasm @@ -4596,6 +4565,7 @@ MONDO:0035942 B-lymphoblastic leukemia/lymphoma with t(12;21)(p13.2;q22.1) MONDO MONDO:0035943 B-lymphoblastic leukemia/lymphoma with hyperdiploidy MONDO:0035605 Orphanet:585936 Orphanet:585877 B-lymphoblastic leukemia/lymphoma with recurrent genetic abnormality MONDO:0035944 B-lymphoblastic leukemia/lymphoma with hypodiploidy MONDO:0035605 Orphanet:585942 Orphanet:585877 B-lymphoblastic leukemia/lymphoma with recurrent genetic abnormality MONDO:0035945 B-lymphoblastic leukemia/lymphoma with t(5;14)(q31.1;q32.3) MONDO:0035605 Orphanet:585948 Orphanet:585877 B-lymphoblastic leukemia/lymphoma with recurrent genetic abnormality +MONDO:0036042 KAT6B-related multiple congenital anomalies syndrome MONDO:0015159 Orphanet:597749 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability MONDO:0036217 lethal pontocerebellar hypoplasia-hypotonia-respiratory insufficiency syndrome due to a point mutation MONDO:0032931 Orphanet:615983 Orphanet:615954 pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome, neonatal lethal MONDO:0036218 lethal pontocerebellar hypoplasia-hypotonia-respiratory insufficiency syndrome due to biallelic deletions in the ATAD3 gene cluster MONDO:0032931 Orphanet:615986 Orphanet:615954 pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome, neonatal lethal MONDO:0037149 HSD10 disease, atypical type MONDO:0010327 Orphanet:85295 Orphanet:391417 HSD10 mitochondrial disease @@ -4606,6 +4576,7 @@ MONDO:0043317 amyopathic dermatomyositis MONDO:0016367 Orphanet:645617 Orphanet: MONDO:0044200 T-B+ severe combined immunodeficiency MONDO:0015974 Orphanet:317416 Orphanet:183660 severe combined immunodeficiency MONDO:0044201 T+ B+ severe combined immunodeficiency MONDO:0015974 Orphanet:397802 Orphanet:183660 severe combined immunodeficiency MONDO:0044202 episodic kinesigenic dyskinesia MONDO:0015427 Orphanet:98809 Orphanet:1431 paroxysmal dyskinesia +MONDO:0044300 familial adenomatous polyposis 4 MONDO:0016362 Orphanet:480536 Orphanet:220460 attenuated familial adenomatous polyposis MONDO:0044306 neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination MONDO:0015653 Orphanet:500545 Orphanet:166472 monogenic epilepsy MONDO:0044319 intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies MONDO:0015159 Orphanet:505237 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability MONDO:0044319 intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies MONDO:0015653 Orphanet:505237 Orphanet:166472 monogenic epilepsy @@ -4683,12 +4654,13 @@ MONDO:0100466 butterfly-shaped pigment dystrophy MONDO:0018973 Orphanet:99001 Or MONDO:0100512 mitochondrial DNA depletion syndrome, hepatocerebral form MONDO:0018158 Orphanet:254871 Orphanet:35698 mitochondrial DNA depletion syndrome MONDO:0100527 dysplastic cortical hyperostosis, Kozlowski-Tsuruta type MONDO:0016357 Orphanet:2204 Orphanet:646139 dysplastic cortical hyperostosis MONDO:0100528 Hao-Fountain syndrome due to 16p13.2 microdeletion MONDO:0014805 Orphanet:500055 Orphanet:643549 Hao-Fountain syndrome -MONDO:0700042 X-linked mendelian susceptibility to mycobacterial diseases due to IKBKG deficiency MONDO:0017905 Orphanet:319612 Orphanet:319605 X-linked Mendelian susceptibility to mycobacterial diseases MONDO:0700088 paroxysmal nonkinesigenic dyskinesia MONDO:0015427 Orphanet:98810 Orphanet:1431 paroxysmal dyskinesia MONDO:0800027 leukoencephalopathy, diffuse hereditary, with spheroids 1 MONDO:0019046 Orphanet:313808 Orphanet:68356 leukodystrophy MONDO:0800029 interstitial lung disease 2 MONDO:0002429 Orphanet:2032 Orphanet:98300 idiopathic interstitial pneumonia MONDO:0800043 Stüve-Wiedemann syndrome 1 MONDO:0019698 Orphanet:3206 Orphanet:93439 bent bone dysplasia MONDO:0800448 leukoencephalopathy with vanishing white matter MONDO:0019046 Orphanet:135 Orphanet:68356 leukodystrophy +MONDO:0800449 lysosomal acid lipase deficiency MONDO:0015905 Orphanet:275761 Orphanet:181437 syndromic dyslipidemia +MONDO:0800449 lysosomal acid lipase deficiency MONDO:0019245 Orphanet:275761 Orphanet:79204 lysosomal lipid storage disorder MONDO:0850001 congenital neuronal ceroid lipofuscinosis MONDO:0016295 Orphanet:168486 Orphanet:216 neuronal ceroid lipofuscinosis MONDO:0850064 inherited hematologic cancer-predisposing syndrome MONDO:0015356 Orphanet:619340 Orphanet:140162 hereditary neoplastic syndrome MONDO:0850072 non-syndromic unisutural craniosynostosis MONDO:0015337 Orphanet:620096 Orphanet:139390 isolated craniosynostosis From fb85776489ebd3d587228e031dbdc8673963ecd0 Mon Sep 17 00:00:00 2001 From: Nico Matentzoglu Date: Fri, 26 Jan 2024 14:50:40 +0200 Subject: [PATCH 8/9] Update all after new run --- .../ncit.subclass.added-obsolete.robot.tsv | 82 +- .../reports/ncit.subclass.added.robot.tsv | 326 +- .../reports/ncit.subclass.confirmed.robot.tsv | 1923 +- .../omim.subclass.added-obsolete.robot.tsv | 6 +- .../reports/omim.subclass.added.robot.tsv | 20 +- .../reports/omim.subclass.confirmed.robot.tsv | 283 +- .../sync-subClassOf.direct-in-mondo-only.tsv | 30516 ++++++++-------- 7 files changed, 15595 insertions(+), 17561 deletions(-) diff --git a/src/ontology/reports/ncit.subclass.added-obsolete.robot.tsv b/src/ontology/reports/ncit.subclass.added-obsolete.robot.tsv index bfa4434d..6abd33eb 100644 --- a/src/ontology/reports/ncit.subclass.added-obsolete.robot.tsv +++ b/src/ontology/reports/ncit.subclass.added-obsolete.robot.tsv @@ -1,95 +1,19 @@ subject_mondo_id subject_mondo_label object_mondo_id subject_source_id object_source_id object_mondo_label ID AI obo:mondo#excluded_subClassOf >A oboInOwl:source -MONDO:0000746 obsolete inguinal hernia MONDO:0024583 NCIT:C34690 NCIT:C34685 obsolete hernia -MONDO:0000795 obsolete penicillin allergy MONDO:0044876 NCIT:C34911 NCIT:C112208 drug hypersensitivity syndrome -MONDO:0001142 salivary gland disorder MONDO:0021059 NCIT:C26879 NCIT:C27571 obsolete head or neck disorder/disorder -MONDO:0001494 obsolete transvestism MONDO:0000595 NCIT:C94359 NCIT:C92202 sexual and gender identity disorders -MONDO:0001500 obsolete gender identity disorder MONDO:0000595 NCIT:C94362 NCIT:C92202 sexual and gender identity disorders -MONDO:0001620 louse-borne relapsing fever MONDO:0044746 NCIT:C128426 NCIT:C35373 obsolete zoonotic bacterial infection -MONDO:0001621 tick-borne relapsing fever MONDO:0044746 NCIT:C34976 NCIT:C35373 obsolete zoonotic bacterial infection -MONDO:0002037 pleural disorder MONDO:0000651 NCIT:C26859 NCIT:C35742 obsolete thoracic disorder -MONDO:0003381 pituitary gland disorder MONDO:0021059 NCIT:C26854 NCIT:C27571 obsolete head or neck disorder/disorder -MONDO:0003393 thymus gland disorder MONDO:0000651 NCIT:C26962 NCIT:C35742 obsolete thoracic disorder -MONDO:0004564 thyroid malformation MONDO:0000839 NCIT:C27331 NCIT:C2849 obsolete congenital abnormality -MONDO:0004747 cleft lip MONDO:0000839 NCIT:C87175 NCIT:C2849 obsolete congenital abnormality -MONDO:0005267 heart disorder MONDO:0000651 NCIT:C3079 NCIT:C35742 obsolete thoracic disorder -MONDO:0005275 lung disorder MONDO:0000651 NCIT:C3198 NCIT:C35742 obsolete thoracic disorder -MONDO:0005495 adrenal gland disorder MONDO:0020595 NCIT:C26690 NCIT:C27667 obsolete disorder of retroperitoneum MONDO:0005586 head and neck neoplasm MONDO:0021059 NCIT:C3077 NCIT:C27571 obsolete head or neck disorder/disorder -MONDO:0005711 congenital diaphragmatic hernia MONDO:0000839 NCIT:C98893 NCIT:C2849 obsolete congenital abnormality -MONDO:0006193 endometrial hyperplasia without atypia MONDO:0041161 NCIT:C40157 NCIT:C3013 obsolete endometrial hyperplasia MONDO:0006475 obsolete unclassified renal cell carcinoma MONDO:0005549 NCIT:C27892 NCIT:C9385 renal cell adenocarcinoma MONDO:0006901 peritoneal neoplasm MONDO:0020591 NCIT:C3322 NCIT:C26848 obsolete disorder of peritoneum -MONDO:0006935 pulmonary subvalvular stenosis MONDO:0000839 NCIT:C34961 NCIT:C2849 obsolete congenital abnormality -MONDO:0006941 rat-bite fever MONDO:0044746 NCIT:C34971 NCIT:C35373 obsolete zoonotic bacterial infection -MONDO:0007125 ankyloglossia MONDO:0000839 NCIT:C124538 NCIT:C2849 obsolete congenital abnormality -MONDO:0007233 second branchial cleft anomaly MONDO:0000839 NCIT:C104813 NCIT:C2849 obsolete congenital abnormality -MONDO:0007238 amastia MONDO:0000839 NCIT:C118459 NCIT:C2849 obsolete congenital abnormality -MONDO:0007342 clubfoot MONDO:0000839 NCIT:C84641 NCIT:C2849 obsolete congenital abnormality -MONDO:0007665 obsolete glaucoma 1, open angle, E MONDO:0005338 NCIT:C35394 NCIT:C34641 open-angle glaucoma -MONDO:0007778 obsolete hypertelorism MONDO:0000839 NCIT:C34715 NCIT:C2849 obsolete congenital abnormality -MONDO:0007879 larynx atresia MONDO:0000839 NCIT:C98972 NCIT:C2849 obsolete congenital abnormality -MONDO:0007928 obsolete Fechtner syndrome MONDO:0002254 NCIT:C131642 NCIT:C28193 syndromic disease -MONDO:0007928 obsolete Fechtner syndrome MONDO:0015912 NCIT:C131642 NCIT:C158788 macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss -MONDO:0007929 obsolete Epstein syndrome MONDO:0002254 NCIT:C131639 NCIT:C28193 syndromic disease -MONDO:0007929 obsolete Epstein syndrome MONDO:0015912 NCIT:C131639 NCIT:C158788 macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss -MONDO:0008195 paramyotonia congenita of Von Eulenburg MONDO:0016110 NCIT:C122790 NCIT:C122787 obsolete non-dystrophic myopathy -MONDO:0008225 normokalemic periodic paralysis MONDO:0016110 NCIT:C122791 NCIT:C122787 obsolete non-dystrophic myopathy -MONDO:0008740 agnathia-otocephaly complex MONDO:0000839 NCIT:C124568 NCIT:C2849 obsolete congenital abnormality -MONDO:0009264 gastroschisis MONDO:0000839 NCIT:C84725 NCIT:C2849 obsolete congenital abnormality -MONDO:0009710 Thomsen and Becker disease MONDO:0016110 NCIT:C84912 NCIT:C122787 obsolete non-dystrophic myopathy -MONDO:0009948 pyropoikilocytosis, hereditary MONDO:0020101 NCIT:C98943 NCIT:C101218 obsolete constitutional hemolytic anemia due to membrane defect -MONDO:0011526 obsolete Sebastian syndrome MONDO:0002254 NCIT:C131650 NCIT:C28193 syndromic disease -MONDO:0011526 obsolete Sebastian syndrome MONDO:0015912 NCIT:C131650 NCIT:C158788 macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss -MONDO:0011910 obsolete autosomal dominant limb-girdle muscular dystrophy type 1C MONDO:0016971 NCIT:C148318 NCIT:C84828 limb-girdle muscular dystrophy MONDO:0012883 acute promyelocytic leukemia MONDO:0020078 NCIT:C3182 NCIT:C7175 obsolete acute myeloid leukemia with recurrent genetic anomaly -MONDO:0013333 odontoid hypoplasia MONDO:0015328 NCIT:C86969 NCIT:C34432 obsolete rare bone development disorder -MONDO:0015167 amniotic band syndrome MONDO:0000839 NCIT:C84552 NCIT:C2849 obsolete congenital abnormality -MONDO:0015411 facial cleft MONDO:0000839 NCIT:C124510 NCIT:C2849 obsolete congenital abnormality -MONDO:0015911 obsolete rare acquired hemolytic anemia MONDO:0003664 NCIT:C34377 NCIT:C34376 hemolytic anemia -MONDO:0015998 isolated ectopia lentis MONDO:0020236 NCIT:C34566 NCIT:C125484 obsolete lens position anomaly -MONDO:0016060 laryngotracheoesophageal cleft MONDO:0000839 NCIT:C98622 NCIT:C2849 obsolete congenital abnormality -MONDO:0016064 cleft palate MONDO:0000839 NCIT:C87069 NCIT:C2849 obsolete congenital abnormality -MONDO:0016104 obsolete infectious disease with peripheral neuropathy MONDO:0020010 NCIT:C27589 NCIT:C27590 infectious disorder of the nervous system -MONDO:0016530 laryngocele MONDO:0000839 NCIT:C97062 NCIT:C2849 obsolete congenital abnormality -MONDO:0017319 hereditary elliptocytosis MONDO:0020101 NCIT:C35882 NCIT:C101218 obsolete constitutional hemolytic anemia due to membrane defect -MONDO:0017462 congenital pseudoarthrosis of the tibia MONDO:0000839 NCIT:C132080 NCIT:C2849 obsolete congenital abnormality -MONDO:0017607 caudal regression sequence MONDO:0000839 NCIT:C124505 NCIT:C2849 obsolete congenital abnormality -MONDO:0017850 sirenomelia MONDO:0000839 NCIT:C118455 NCIT:C2849 obsolete congenital abnormality -MONDO:0018251 obsolete glycogen storage disease due to phosphorylase kinase deficiency MONDO:0002412 NCIT:C122662 NCIT:C61272 disorder of glycogen metabolism -MONDO:0018598 obsolete neonatal adrenoleukodystrophy MONDO:0019234 NCIT:C99251 NCIT:C146639 peroxisome biogenesis disorder -MONDO:0018649 obsolete cerebral visual impairment MONDO:0021084 NCIT:C35275 NCIT:C35126 vision disorder -MONDO:0018959 potassium-aggravated myotonia MONDO:0016110 NCIT:C122788 NCIT:C122787 obsolete non-dystrophic myopathy -MONDO:0019015 omphalocele MONDO:0000839 NCIT:C98997 NCIT:C2849 obsolete congenital abnormality -MONDO:0019174 obsolete infantile Refsum disease MONDO:0019234 NCIT:C84789 NCIT:C146639 peroxisome biogenesis disorder -MONDO:0019350 hereditary spherocytosis MONDO:0020101 NCIT:C97074 NCIT:C101218 obsolete constitutional hemolytic anemia due to membrane defect -MONDO:0019359 Rocky mountain spotted fever MONDO:0044746 NCIT:C128410 NCIT:C35373 obsolete zoonotic bacterial infection -MONDO:0019362 epidemic louse-borne typhus MONDO:0044746 NCIT:C84689 NCIT:C35373 obsolete zoonotic bacterial infection -MONDO:0019805 twin to twin transfusion syndrome MONDO:0000839 NCIT:C113824 NCIT:C2849 obsolete congenital abnormality +MONDO:0017894 acute myeloid leukemia with CEBPA somatic mutations MONDO:0020078 NCIT:C82433 NCIT:C7175 obsolete acute myeloid leukemia with recurrent genetic anomaly MONDO:0020078 obsolete acute myeloid leukemia with recurrent genetic anomaly MONDO:0018874 NCIT:C7175 NCIT:C3171 acute myeloid leukemia -MONDO:0020101 obsolete constitutional hemolytic anemia due to membrane defect MONDO:0003689 NCIT:C101218 NCIT:C34379 familial hemolytic anemia -MONDO:0020153 cryptophthalmia MONDO:0000839 NCIT:C124520 NCIT:C2849 obsolete congenital abnormality -MONDO:0020236 obsolete lens position anomaly MONDO:0001176 NCIT:C125484 NCIT:C26812 lens disorder -MONDO:0021200 obsolete rare disease MONDO:0000001 NCIT:C4873 NCIT:C2991 disease MONDO:0021350 neoplasm of thorax MONDO:0000651 NCIT:C3406 NCIT:C35742 obsolete thoracic disorder MONDO:0021386 neoplasm of mediastinum MONDO:0043707 NCIT:C3221 NCIT:C26826 obsolete mediastinal disorder -MONDO:0021559 non-autoimmune hemolytic anemia MONDO:0015911 NCIT:C34853 NCIT:C34377 obsolete rare acquired hemolytic anemia -MONDO:0022578 childhood bladder carcinoma MONDO:0036491 NCIT:C118816 NCIT:C114451 obsolete rare childhood malignant neoplasm -MONDO:0024623 otorhinolaryngologic disease MONDO:0021059 NCIT:C118420 NCIT:C27571 obsolete head or neck disorder/disorder MONDO:0024645 retroperitoneal neoplasm MONDO:0020595 NCIT:C3357 NCIT:C27667 obsolete disorder of retroperitoneum -MONDO:0024654 skull disorder MONDO:0021059 NCIT:C27655 NCIT:C27571 obsolete head or neck disorder/disorder -MONDO:0025303 anaplasmosis MONDO:0044746 NCIT:C128425 NCIT:C35373 obsolete zoonotic bacterial infection -MONDO:0025481 obsolete zoonosis MONDO:0005550 NCIT:C35803 NCIT:C26726 infectious disease -MONDO:0035112 acute myeloid leukemia with BCR-ABL1 MONDO:0020078 NCIT:C129785 NCIT:C7175 obsolete acute myeloid leukemia with recurrent genetic anomaly MONDO:0036491 obsolete rare childhood malignant neoplasm MONDO:0006517 NCIT:C114451 NCIT:C4005 childhood malignant neoplasm MONDO:0036491 obsolete rare childhood malignant neoplasm MONDO:0021200 NCIT:C114451 NCIT:C4873 obsolete rare disease -MONDO:0041161 obsolete endometrial hyperplasia MONDO:0000931 NCIT:C3013 NCIT:C3504 endometrial disorder MONDO:0042494 childhood malignant melanoma MONDO:0036491 NCIT:C131506 NCIT:C114451 obsolete rare childhood malignant neoplasm -MONDO:0043606 obsolete pathologic fracture MONDO:0005315 NCIT:C3047 NCIT:C3046 bone fracture -MONDO:0043707 obsolete mediastinal disorder MONDO:0000651 NCIT:C26826 NCIT:C35742 obsolete thoracic disorder -MONDO:0044746 obsolete zoonotic bacterial infection MONDO:0005113 NCIT:C35373 NCIT:C2890 bacterial infectious disease -MONDO:0044746 obsolete zoonotic bacterial infection MONDO:0025481 NCIT:C35373 NCIT:C35803 obsolete zoonosis +MONDO:0044923 acute myeloid leukemia with mutated NPM1 MONDO:0020078 NCIT:C82431 NCIT:C7175 obsolete acute myeloid leukemia with recurrent genetic anomaly MONDO:0100375 acute myeloid leukemia, t(15;17)(q24;q21) MONDO:0020078 NCIT:C36055 NCIT:C7175 obsolete acute myeloid leukemia with recurrent genetic anomaly MONDO:0100382 acute myeloid leukemia, t(6;9)(p23;q34.1) MONDO:0020078 NCIT:C82423 NCIT:C7175 obsolete acute myeloid leukemia with recurrent genetic anomaly -MONDO:0100389 acute myeloid leukemia, Trisomy 8 MONDO:0020078 NCIT:C162775 NCIT:C7175 obsolete acute myeloid leukemia with recurrent genetic anomaly MONDO:0100404 acute myeloid leukemia, MLL gene rearrangement MONDO:0020078 NCIT:C174129 NCIT:C7175 obsolete acute myeloid leukemia with recurrent genetic anomaly +MONDO:0100415 acute myeloid leukemia, FLT3 internal tandem duplication MONDO:0020078 NCIT:C126748 NCIT:C7175 obsolete acute myeloid leukemia with recurrent genetic anomaly diff --git a/src/ontology/reports/ncit.subclass.added.robot.tsv b/src/ontology/reports/ncit.subclass.added.robot.tsv index c6c81282..8713704f 100644 --- a/src/ontology/reports/ncit.subclass.added.robot.tsv +++ b/src/ontology/reports/ncit.subclass.added.robot.tsv @@ -1,9 +1,6 @@ subject_mondo_id subject_mondo_label object_mondo_id subject_source_id object_source_id object_mondo_label ID AI obo:mondo#excluded_subClassOf >A oboInOwl:source -MONDO:0000159 bone marrow failure syndrome MONDO:0002254 NCIT:C165614 NCIT:C28193 syndromic disease -MONDO:0000171 muscular dystrophy-dystroglycanopathy, type A MONDO:0002254 NCIT:C99109 NCIT:C28193 syndromic disease MONDO:0000432 lymphoplasmacytic lymphoma MONDO:0017594 NCIT:C3212 NCIT:C171299 indolent B-cell non-Hodgkin lymphoma -MONDO:0000437 cerebellar ataxia MONDO:0005559 NCIT:C82341 NCIT:C4802 neurodegenerative disease MONDO:0000502 villous adenoma MONDO:0006180 NCIT:C7399 NCIT:C36207 digestive system adenoma MONDO:0000525 cecum villous adenoma MONDO:0021464 NCIT:C5520 NCIT:C4772 benign neoplasm of cecum MONDO:0000527 colon adenoma MONDO:0002278 NCIT:C3864 NCIT:C2894 benign colon neoplasm @@ -14,46 +11,28 @@ MONDO:0000607 primary cutaneous T-cell non-Hodgkin lymphoma MONDO:0000430 NCIT:C MONDO:0000618 Her2-receptor negative breast cancer MONDO:0004988 NCIT:C168519 NCIT:C5214 breast adenocarcinoma MONDO:0000625 benign male reproductive system neoplasm MONDO:0024582 NCIT:C4777 NCIT:C3054 male reproductive system neoplasm MONDO:0000627 benign endocrine neoplasm MONDO:0036976 NCIT:C4621 NCIT:C4092 benign epithelial neoplasm -MONDO:0000665 apraxia MONDO:0005395 NCIT:C180557 NCIT:C116757 movement disorder -MONDO:0000736 dyschromatosis universalis hereditaria MONDO:0002254 NCIT:C173131 NCIT:C28193 syndromic disease -MONDO:0000743 oral hairy leukoplakia MONDO:0024571 NCIT:C3722 NCIT:C4991 AIDS-related disorder -MONDO:0000755 ectopic pregnancy MONDO:0024575 NCIT:C34945 NCIT:C35169 pregnancy disorder MONDO:0000845 fibrous dysplasia MONDO:0000631 NCIT:C34609 NCIT:C4880 bone benign neoplasm MONDO:0000874 T-cell childhood lymphoblastic lymphoma MONDO:0044917 NCIT:C7210 NCIT:C6919 T-lymphoblastic lymphoma MONDO:0000961 endobronchial lipoma MONDO:0002732 NCIT:C5063 NCIT:C4454 lung benign neoplasm MONDO:0000964 skin lipoma MONDO:0044335 NCIT:C4616 NCIT:C4242 benign soft tissue neoplasm MONDO:0000970 breast lipoma MONDO:0044335 NCIT:C4647 NCIT:C4242 benign soft tissue neoplasm -MONDO:0000976 paratesticular lipoma MONDO:0000625 NCIT:C6384 NCIT:C4777 benign male reproductive system neoplasm MONDO:0000976 paratesticular lipoma MONDO:0044335 NCIT:C6384 NCIT:C4242 benign soft tissue neoplasm MONDO:0000996 prostate lymphoma MONDO:0017207 NCIT:C5533 NCIT:C7185 primary organ-specific lymphoma -MONDO:0001029 Klippel-Feil syndrome MONDO:0002254 NCIT:C98967 NCIT:C28193 syndromic disease -MONDO:0001040 nasopharyngitis MONDO:0002258 NCIT:C34837 NCIT:C26851 pharyngitis -MONDO:0001083 Fanconi renotubular syndrome MONDO:0003847 NCIT:C3034 NCIT:C3101 hereditary disease -MONDO:0001147 meningocele MONDO:0001147 NCIT:C101209 NCIT:C105595 meningocele -MONDO:0001147 meningocele MONDO:0700092 NCIT:C105595 NCIT:C89338 neurodevelopmental disorder -MONDO:0001252 Plummer disease MONDO:0005397 NCIT:C35171 NCIT:C26785 goiter -MONDO:0001256 arteriovenous hemangioma/malformation MONDO:0024287 NCIT:C2882 NCIT:C112117 congenital vascular malformation MONDO:0001381 bladder lymphoma MONDO:0017207 NCIT:C6164 NCIT:C7185 primary organ-specific lymphoma MONDO:0001417 tracheal lymphoma MONDO:0017207 NCIT:C6248 NCIT:C7185 primary organ-specific lymphoma MONDO:0001426 mediastinum neurofibroma MONDO:0021521 NCIT:C6631 NCIT:C3604 benign neoplasm of mediastinum -MONDO:0001437 pulmonary alveolar proteinosis MONDO:0015925 NCIT:C85037 NCIT:C164315 interstitial lung disease MONDO:0001472 testicular lymphoma MONDO:0017207 NCIT:C6810 NCIT:C7185 primary organ-specific lymphoma MONDO:0001499 retroperitoneal lymphoma MONDO:0017207 NCIT:C7353 NCIT:C7185 primary organ-specific lymphoma -MONDO:0001516 spinal muscular atrophy MONDO:0005336 NCIT:C85075 NCIT:C101216 myopathy MONDO:0001569 acoustic neuroma MONDO:0021221 NCIT:C3276 NCIT:C5120 vestibulocochlear nerve neoplasm MONDO:0001606 central nervous system leukemia MONDO:0002714 NCIT:C5440 NCIT:C4627 central nervous system cancer -MONDO:0001627 dementia MONDO:0005559 NCIT:C4786 NCIT:C4802 neurodegenerative disease -MONDO:0001631 vertebral artery insufficiency MONDO:0020673 NCIT:C35123 NCIT:C35318 arterial occlusion MONDO:0001651 scrotum squamous cell carcinoma MONDO:0002529 NCIT:C4643 NCIT:C4819 skin squamous cell carcinoma MONDO:0001652 scrotum melanoma MONDO:0005012 NCIT:C7361 NCIT:C3510 cutaneous melanoma MONDO:0001652 scrotum melanoma MONDO:0021112 NCIT:C7361 NCIT:C3560 scrotum cancer MONDO:0001748 maxillary sinus carcinoma MONDO:0001748 NCIT:C9332 NCIT:C3540 maxillary sinus carcinoma -MONDO:0001761 favism MONDO:0021559 NCIT:C34607 NCIT:C34853 non-autoimmune hemolytic anemia MONDO:0001778 dermoid cyst of skin MONDO:0021440 NCIT:C4632 NCIT:C2896 benign neoplasm of skin MONDO:0001789 neurofibroma of spinal cord MONDO:0021506 NCIT:C5145 NCIT:C3627 benign neoplasm of spinal cord MONDO:0001975 cavernous hemangioma of orbit MONDO:0001974 NCIT:C4546 NCIT:C6245 hemangioma of orbit MONDO:0001977 ureteral lymphoma MONDO:0017207 NCIT:C6175 NCIT:C7185 primary organ-specific lymphoma -MONDO:0002008 labyrinthitis MONDO:0021666 NCIT:C128369 NCIT:C27193 ear infection MONDO:0002064 breast angiomatosis MONDO:0000620 NCIT:C40381 NCIT:C4505 breast benign neoplasm MONDO:0002064 breast angiomatosis MONDO:0024461 NCIT:C40381 NCIT:C27503 angiomatosis MONDO:0002064 breast angiomatosis MONDO:0044335 NCIT:C40381 NCIT:C4242 benign soft tissue neoplasm @@ -70,8 +49,6 @@ MONDO:0002214 brain germinoma MONDO:0021632 NCIT:C6284 NCIT:C170814 primary brai MONDO:0002216 brain sarcoma MONDO:0021632 NCIT:C5154 NCIT:C170814 primary brain neoplasm MONDO:0002217 central nervous system sarcoma MONDO:0037740 NCIT:C5153 NCIT:C6758 malignant central nervous system mesenchymal, non-meningothelial neoplasm MONDO:0002227 ovarian lymphoma MONDO:0017207 NCIT:C40021 NCIT:C7185 primary organ-specific lymphoma -MONDO:0002243 hemorrhagic disease MONDO:0001531 NCIT:C115221 NCIT:C2902 blood coagulation disease -MONDO:0002269 gastroenteritis MONDO:0043424 NCIT:C34632 NCIT:C35503 digestive system infectious disorder MONDO:0002293 cutaneous ganglioneuroma MONDO:0021440 NCIT:C4481 NCIT:C2896 benign neoplasm of skin MONDO:0002352 larynx cancer MONDO:0021310 NCIT:C7484 NCIT:C4940 malignant tumor of neck MONDO:0002354 benign laryngeal neoplasm MONDO:0021455 NCIT:C3601 NCIT:C4884 benign neoplasm of neck @@ -82,7 +59,6 @@ MONDO:0002380 myoepithelial tumor MONDO:0006424 NCIT:C40392 NCIT:C3377 soft tiss MONDO:0002385 benign cystic nephroma MONDO:0021077 NCIT:C7504 NCIT:C6784 cystic neoplasm MONDO:0002403 synovium cancer MONDO:0024637 NCIT:C6531 NCIT:C4867 malignant soft tissue neoplasm MONDO:0002404 liver hemangioma MONDO:0002405 NCIT:C3869 NCIT:C35442 hepatic vascular disorder -MONDO:0002429 idiopathic interstitial pneumonia MONDO:0015925 NCIT:C35714 NCIT:C164315 interstitial lung disease MONDO:0002447 endometrial carcinoma MONDO:0006003 NCIT:C7558 NCIT:C61574 uterine corpus cancer MONDO:0002472 carcinoma ex pleomorphic adenoma MONDO:0024878 NCIT:C4397 NCIT:C36310 secondary carcinoma MONDO:0002478 mixed germ cell-sex cord-stromal tumor MONDO:0006054 NCIT:C5241 NCIT:C3674 reproductive system neoplasm @@ -98,11 +74,10 @@ MONDO:0002586 thymus cancer MONDO:0003274 NCIT:C4962 NCIT:C3576 thoracic cancer MONDO:0002599 teratocarcinoma MONDO:0005853 NCIT:C3756 NCIT:C3729 malignant mixed neoplasm MONDO:0002599 teratocarcinoma MONDO:0021656 NCIT:C3756 NCIT:C121619 nongerminomatous germ cell tumor MONDO:0002616 mesenchymal cell neoplasm MONDO:0044334 NCIT:C7059 NCIT:C3810 connective and soft tissue neoplasm -MONDO:0002631 conventional osteosarcoma MONDO:0020633 NCIT:C35870 NCIT:C36025 anaplastic cancer -MONDO:0002645 cerebritis MONDO:0024619 NCIT:C27199 NCIT:C27582 central nervous system infectious disorder MONDO:0002649 scrotum Paget disease MONDO:0008177 NCIT:C7728 NCIT:C3302 extramammary Paget disease MONDO:0002650 scrotal carcinoma MONDO:0002656 NCIT:C6389 NCIT:C4914 skin carcinoma MONDO:0002705 breast mucinous cystadenocarcinoma MONDO:0006256 NCIT:C40354 NCIT:C9245 invasive breast carcinoma +MONDO:0002726 cutaneous solitary mastocytoma MONDO:0021048 NCIT:C7138 NCIT:C3217 benign mastocytoma MONDO:0002729 rhabdoid tumor of the kidney MONDO:0036511 NCIT:C8715 NCIT:C123907 childhood malignant kidney neoplasm MONDO:0002734 anal mucinous adenocarcinoma MONDO:0002735 NCIT:C5606 NCIT:C7471 anal canal adenocarcinoma MONDO:0002750 bladder colloid adenocarcinoma MONDO:0004957 NCIT:C39837 NCIT:C26712 mucinous adenocarcinoma @@ -116,15 +91,13 @@ MONDO:0002810 pancreatic serous cystic neoplasm MONDO:0037256 NCIT:C41248 NCIT:C MONDO:0002834 primary prostate urothelial carcinoma MONDO:0040679 NCIT:C39898 NCIT:C4030 urothelial carcinoma MONDO:0002848 skeletal muscle neoplasm MONDO:0021545 NCIT:C6514 NCIT:C4063 myomatous neoplasm MONDO:0002868 bile duct mucinous cystic neoplasm with an associated invasive carcinoma MONDO:0003193 NCIT:C4130 NCIT:C27813 bile duct adenocarcinoma +MONDO:0002872 trophoblastic neoplasm MONDO:0005626 NCIT:C3422 NCIT:C3709 epithelial neoplasm MONDO:0002878 uterine corpus adenosarcoma MONDO:0005210 NCIT:C6336 NCIT:C6339 uterine corpus sarcoma MONDO:0002880 ovarian adenosarcoma MONDO:0002225 NCIT:C7317 NCIT:C8267 ovarian sarcoma MONDO:0002881 vaginal adenosarcoma MONDO:0002140 NCIT:C40277 NCIT:C7737 vagina sarcoma MONDO:0002881 vaginal adenosarcoma MONDO:0037746 NCIT:C40277 NCIT:C40276 malignant vaginal mixed epithelial and mesenchymal neoplasm -MONDO:0002900 cerebral neuroblastoma MONDO:0021632 NCIT:C4826 NCIT:C170814 primary brain neoplasm -MONDO:0002908 glucose metabolism disease MONDO:0019214 NCIT:C53655 NCIT:C97089 inborn carbohydrate metabolic disorder MONDO:0002913 cerebellar neoplasm MONDO:0037736 NCIT:C2935 NCIT:C3139 infratentorial neoplasm MONDO:0002916 brainstem intraparenchymal clear cell meningioma MONDO:0002919 NCIT:C5295 NCIT:C6775 posterior cranial fossa meningioma -MONDO:0002917 disorder of pilosebaceous unit MONDO:0005093 NCIT:C34656 NCIT:C3371 skin disorder MONDO:0002918 clear cell meningioma MONDO:0045056 NCIT:C4722 NCIT:C38937 grade II meningioma MONDO:0002920 malignant ovarian Brenner tumor MONDO:0005140 NCIT:C4270 NCIT:C4908 ovarian carcinoma MONDO:0002978 orbit alveolar rhabdomyosarcoma MONDO:0009994 NCIT:C6247 NCIT:C3749 alveolar rhabdomyosarcoma @@ -134,7 +107,6 @@ MONDO:0002996 cavernous sinus meningioma MONDO:0002997 NCIT:C5268 NCIT:C5286 ant MONDO:0002999 central nervous system germinoma MONDO:0020580 NCIT:C7009 NCIT:C121618 germinomatous germ cell tumor MONDO:0003010 multilocular clear cell renal cell carcinoma MONDO:0021077 NCIT:C4524 NCIT:C6784 cystic neoplasm MONDO:0003031 endometrioid stromal and related neoplasms of the cervix MONDO:0037742 NCIT:C40218 NCIT:C8384 endometrioid stromal and related neoplasms -MONDO:0003038 dysgraphia MONDO:0001276 NCIT:C182452 NCIT:C92562 expressive language disorder MONDO:0003061 benign muscle neoplasm MONDO:0044335 NCIT:C4882 NCIT:C4242 benign soft tissue neoplasm MONDO:0003091 cutaneous mucoepidermoid carcinoma MONDO:0005524 NCIT:C4472 NCIT:C6938 sweat gland carcinoma MONDO:0003107 infratentorial cancer MONDO:0037736 NCIT:C4966 NCIT:C3139 infratentorial neoplasm @@ -143,8 +115,6 @@ MONDO:0003120 mixed testicular germ cell cancer MONDO:0005853 NCIT:C6347 NCIT:C3 MONDO:0003126 breast hemangioma MONDO:0044335 NCIT:C5353 NCIT:C4242 benign soft tissue neoplasm MONDO:0003141 cerebellopontine angle embryonal tumor MONDO:0003142 NCIT:C5436 NCIT:C5817 intracranial primitive neuroectodermal tumor MONDO:0003142 intracranial primitive neuroectodermal tumor MONDO:0021632 NCIT:C5817 NCIT:C170814 primary brain neoplasm -MONDO:0003143 angiokeratoma MONDO:0003143 NCIT:C4488 NCIT:C2874 angiokeratoma -MONDO:0003143 angiokeratoma MONDO:0021658 NCIT:C2874 NCIT:C45481 vascular ectasia MONDO:0003145 supratentorial primitive neuroectodermal tumor MONDO:0003142 NCIT:C6968 NCIT:C5817 intracranial primitive neuroectodermal tumor MONDO:0003212 nasal cavity carcinoma MONDO:0056819 NCIT:C9336 NCIT:C54293 nasal cavity and paranasal sinus carcinoma MONDO:0003261 papillary meningioma of the cerebellum MONDO:0021317 NCIT:C5270 NCIT:C3569 cancer of cerebellum @@ -161,35 +131,37 @@ MONDO:0003446 papillary hidradenoma MONDO:0021489 NCIT:C4171 NCIT:C4879 benign n MONDO:0003459 cervical adenofibroma MONDO:0006071 NCIT:C40230 NCIT:C8984 adenofibroma MONDO:0003463 ovarian endometrioid adenofibroma MONDO:0006071 NCIT:C27287 NCIT:C8984 adenofibroma MONDO:0003499 sarcomatoid squamous cell skin carcinoma MONDO:0021663 NCIT:C4666 NCIT:C27084 sarcomatoid squamous cell carcinoma +MONDO:0003507 choriocarcinoma of ovary MONDO:0005140 NCIT:C4515 NCIT:C4908 ovarian carcinoma MONDO:0003519 malignant syringoma MONDO:0005524 NCIT:C7581 NCIT:C6938 sweat gland carcinoma MONDO:0003538 precursor lymphoblastic lymphoma/leukemia MONDO:0004992 NCIT:C7055 NCIT:C9305 cancer MONDO:0003539 T-cell adult acute lymphocytic leukemia MONDO:0004963 NCIT:C9142 NCIT:C3183 T-cell acute lymphoblastic leukemia MONDO:0003557 optic nerve sheath meningioma MONDO:0024648 NCIT:C4538 NCIT:C5587 optic tract meningioma MONDO:0003565 urethral villous adenoma MONDO:0004177 NCIT:C39872 NCIT:C3619 benign urethral neoplasm +MONDO:0003575 comedocarcinoma MONDO:0004970 NCIT:C4188 NCIT:C2852 adenocarcinoma MONDO:0003595 sclerosing liposarcoma MONDO:0006097 NCIT:C6507 NCIT:C6505 atypical lipomatous tumor MONDO:0003596 spindle cell liposarcoma MONDO:0044983 NCIT:C27489 NCIT:C4502 benign lipomatous neoplasm -MONDO:0003602 intracranial liposarcoma MONDO:0002217 NCIT:C6973 NCIT:C5153 central nervous system sarcoma +MONDO:0003602 intracranial liposarcoma MONDO:0002216 NCIT:C6973 NCIT:C5154 brain sarcoma MONDO:0003635 sebaceous breast carcinoma MONDO:0004953 NCIT:C40369 NCIT:C4194 invasive ductal breast carcinoma MONDO:0003655 cerebral lymphoma MONDO:0021632 NCIT:C7611 NCIT:C170814 primary brain neoplasm MONDO:0003661 breast lymphoma MONDO:0017207 NCIT:C4671 NCIT:C7185 primary organ-specific lymphoma MONDO:0003666 fallopian tube endometrioid adenocarcinoma MONDO:0021576 NCIT:C6279 NCIT:C40111 fallopian tube endometrioid tumor MONDO:0003685 retroperitoneal germ cell neoplasm MONDO:0018201 NCIT:C6447 NCIT:C3918 extragonadal germ cell tumor -MONDO:0003689 familial hemolytic anemia MONDO:0000577 NCIT:C34379 NCIT:C35228 congenital anemia MONDO:0003702 uterus intravascular leiomyomatosis MONDO:0007886 NCIT:C5356 NCIT:C3434 uterine corpus leiomyoma MONDO:0003710 ovarian mixed germ cell neoplasm MONDO:0005853 NCIT:C8114 NCIT:C3729 malignant mixed neoplasm MONDO:0003722 internal auditory canal meningioma MONDO:0002998 NCIT:C5307 NCIT:C5272 skull base meningioma -MONDO:0003733 central nervous system mature teratoma MONDO:0000648 NCIT:C7013 NCIT:C4789 nervous system benign neoplasm MONDO:0003735 central nervous system immature teratoma MONDO:0024857 NCIT:C7014 NCIT:C8884 immature extragonadal teratoma +MONDO:0003741 juvenile type testicular granulosa cell tumor MONDO:0037250 NCIT:C39947 NCIT:C5053 childhood testicular neoplasm MONDO:0003743 heart malignant hemangiopericytoma MONDO:0009330 NCIT:C5365 NCIT:C4301 hemangiopericytoma, malignant MONDO:0003756 ovarian mucinous neoplasm MONDO:0024338 NCIT:C5242 NCIT:C7070 mucinous neoplasm MONDO:0003760 pediatric ovarian germ cell tumor MONDO:0020577 NCIT:C8588 NCIT:C114801 childhood gonadal germ cell tumor MONDO:0003772 cerebral meningioma MONDO:0021632 NCIT:C4807 NCIT:C170814 primary brain neoplasm +MONDO:0003828 growth hormone-producing pituitary gland carcinoma MONDO:0006238 NCIT:C5963 NCIT:C7461 growth hormone-producing pituitary gland adenoma MONDO:0003828 growth hormone-producing pituitary gland carcinoma MONDO:0017582 NCIT:C5963 NCIT:C4536 pituitary adenocarcinoma MONDO:0003836 malignant thyroid stimulating hormone producing neoplasm of pituitary gland MONDO:0017582 NCIT:C5965 NCIT:C4536 pituitary adenocarcinoma MONDO:0003857 adult intracranial malignant hemangiopericytoma MONDO:0021632 NCIT:C9183 NCIT:C170814 primary brain neoplasm MONDO:0003860 cerebellopontine angle meningioma MONDO:0002919 NCIT:C5300 NCIT:C6775 posterior cranial fossa meningioma MONDO:0003887 ovarian mucinous adenofibroma MONDO:0036915 NCIT:C40040 NCIT:C40039 benign ovarian mucinous tumor -MONDO:0003893 rete testis adenoma MONDO:0000625 NCIT:C39956 NCIT:C4777 benign male reproductive system neoplasm +MONDO:0003893 rete testis adenoma MONDO:0021077 NCIT:C39956 NCIT:C6784 cystic neoplasm MONDO:0003898 pediatric myxoid chondrosarcoma MONDO:0012825 NCIT:C27377 NCIT:C27502 extraskeletal myxoid chondrosarcoma MONDO:0003910 mixed cell uveal melanoma MONDO:0006749 NCIT:C35781 NCIT:C66756 mixed epithelioid and spindle cell melanoma MONDO:0003917 heart lymphoma MONDO:0017207 NCIT:C5368 NCIT:C7185 primary organ-specific lymphoma @@ -207,19 +179,18 @@ MONDO:0004032 ovarian seromucinous carcinoma MONDO:0005140 NCIT:C40090 NCIT:C490 MONDO:0004034 eye lymphoma MONDO:0017207 NCIT:C35690 NCIT:C7185 primary organ-specific lymphoma MONDO:0004048 immature gastric teratoma MONDO:0024857 NCIT:C5256 NCIT:C8884 immature extragonadal teratoma MONDO:0004057 micropapillary variant infiltrating bladder urothelial carcinoma MONDO:0004056 NCIT:C27202 NCIT:C7383 bladder papillary urothelial carcinoma -MONDO:0004058 pancreatic cholera MONDO:0045072 NCIT:C3488 NCIT:C4065 ectopic hormone secretion syndrome associated with neoplasia MONDO:0004096 spinal cord dermoid cyst MONDO:0021506 NCIT:C6808 NCIT:C3627 benign neoplasm of spinal cord MONDO:0004100 lung mixed small cell and squamous cell carcinoma MONDO:0003438 NCIT:C9423 NCIT:C9137 combined small cell lung carcinoma MONDO:0004108 diaphragma sellae meningioma MONDO:0004312 NCIT:C5283 NCIT:C6776 suprasellar meningioma MONDO:0004111 refractory hematologic cancer MONDO:0036501 NCIT:C27357 NCIT:C120186 refractory malignant neoplasm MONDO:0004134 benign dermal neurilemmoma MONDO:0004820 NCIT:C5569 NCIT:C41430 peripheral nerve schwannoma -MONDO:0004135 subacute lymphocytic thyroiditis MONDO:0006982 NCIT:C35829 NCIT:C35071 subacute thyroiditis MONDO:0004158 pancreatic mucinous-cystic neoplasm with an associated invasive carcinoma MONDO:0040677 NCIT:C41246 NCIT:C9480 invasive carcinoma MONDO:0004158 pancreatic mucinous-cystic neoplasm with an associated invasive carcinoma MONDO:0044879 NCIT:C41246 NCIT:C41247 pancreatic mucinous-cystic neoplasm MONDO:0004164 lymphoepithelioma-like acinar prostate adenocarcinoma MONDO:0003572 NCIT:C39885 NCIT:C4107 nasopharyngeal type undifferentiated carcinoma MONDO:0004217 childhood brain germinoma MONDO:0004218 NCIT:C6207 NCIT:C5795 childhood germ cell brain tumor MONDO:0004218 childhood germ cell brain tumor MONDO:0021632 NCIT:C5795 NCIT:C170814 primary brain neoplasm MONDO:0004223 polyp of middle ear MONDO:0021482 NCIT:C6933 NCIT:C4602 benign neoplasm of middle ear +MONDO:0004225 monoclonal gammopathy of uncertain significance MONDO:0004949 NCIT:C3996 NCIT:C27910 neoplasm of mature B-cells MONDO:0004230 adenomatoid tumor MONDO:0005165 NCIT:C3762 NCIT:C3677 benign neoplasm MONDO:0004238 petrous apex meningioma MONDO:0002998 NCIT:C5271 NCIT:C5272 skull base meningioma MONDO:0004248 pediatric infratentorial ependymoma MONDO:0003478 NCIT:C9041 NCIT:C8578 childhood ependymoma @@ -231,9 +202,10 @@ MONDO:0004339 tuberculum sellae meningioma MONDO:0004312 NCIT:C5284 NCIT:C6776 s MONDO:0004340 mixed ductal-endocrine carcinoma of pancreas MONDO:0044727 NCIT:C6879 NCIT:C45843 pancreatic carcinoma with mixed differentiation MONDO:0004351 intraocular lymphoma MONDO:0018908 NCIT:C9184 NCIT:C3211 non-Hodgkin lymphoma MONDO:0004353 extrahepatic biliary papillomatosis MONDO:0021385 NCIT:C7124 NCIT:C4441 extrahepatic bile duct neoplasm +MONDO:0004356 childhood multilocular cystic kidney neoplasm MONDO:0021077 NCIT:C6566 NCIT:C6784 cystic neoplasm MONDO:0004371 spinal multifocal clear cell meningioma MONDO:0001279 NCIT:C5287 NCIT:C5134 intraspinal meningioma -MONDO:0004382 laryngeal disorder MONDO:0024623 NCIT:C26810 NCIT:C118420 otorhinolaryngologic disease MONDO:0004385 adult xanthogranuloma MONDO:0021440 NCIT:C27514 NCIT:C2896 benign neoplasm of skin +MONDO:0004392 intracranial extraskeletal myxoid chondrosarcoma MONDO:0002216 NCIT:C5462 NCIT:C5154 brain sarcoma MONDO:0004412 malignant spiradenoma MONDO:0024878 NCIT:C5117 NCIT:C36310 secondary carcinoma MONDO:0004439 periocular meningioma MONDO:0002888 NCIT:C6777 NCIT:C6778 intraorbital meningioma MONDO:0004447 pituitary stalk meningioma MONDO:0004312 NCIT:C5311 NCIT:C6776 suprasellar meningioma @@ -247,94 +219,61 @@ MONDO:0004550 malignant cornea melanoma MONDO:0006320 NCIT:C4553 NCIT:C8711 non- MONDO:0004560 follicular infundibulum tumor MONDO:0002093 NCIT:C4469 NCIT:C7419 acanthoma MONDO:0004561 retinal melanoma MONDO:0006320 NCIT:C8601 NCIT:C8711 non-cutaneous melanoma MONDO:0004562 breast apocrine carcinoma in situ MONDO:0003934 NCIT:C5140 NCIT:C5141 breast apocrine carcinoma -MONDO:0004582 rheumatic myocarditis MONDO:0002815 NCIT:C35202 NCIT:C35206 acute myocarditis -MONDO:0004582 rheumatic myocarditis MONDO:0021777 NCIT:C35202 NCIT:C34985 acute rheumatic heart disease MONDO:0004699 gastrointestinal lymphoma MONDO:0017207 NCIT:C38162 NCIT:C7185 primary organ-specific lymphoma MONDO:0004752 neurofibroma of the heart MONDO:0021450 NCIT:C5359 NCIT:C3605 benign neoplasm of heart MONDO:0004756 nasal cavity neoplasm MONDO:0056820 NCIT:C4413 NCIT:C7336 nasal cavity and paranasal sinus neoplasm -MONDO:0004787 cervical mullerian papilloma MONDO:0021078 NCIT:C40215 NCIT:C6880 glandular papilloma -MONDO:0004795 otitis externa MONDO:0004795 NCIT:C3299 NCIT:C79601 otitis externa MONDO:0004837 neurofibroma of the esophagus MONDO:0021459 NCIT:C5704 NCIT:C3598 benign neoplasm of esophagus -MONDO:0004842 stomatitis MONDO:0000888 NCIT:C26887 NCIT:C3853 gastrointestinal mucositis MONDO:0004942 orbit lymphoma MONDO:0017207 NCIT:C6244 NCIT:C7185 primary organ-specific lymphoma MONDO:0004943 orbit sarcoma MONDO:0018078 NCIT:C6095 NCIT:C9306 soft tissue sarcoma MONDO:0004948 B-cell chronic lymphocytic leukemia MONDO:0003864 NCIT:C3163 NCIT:C27911 chronic lymphocytic leukemia/small lymphocytic lymphoma MONDO:0004963 T-cell acute lymphoblastic leukemia MONDO:0003537 NCIT:C3183 NCIT:C8694 precursor T-lymphoblastic lymphoma/leukemia MONDO:0004964 peripheral T-cell lymphoma, not otherwise specified MONDO:0000430 NCIT:C4340 NCIT:C3468 mature T-cell and NK-cell non-Hodgkin lymphoma -MONDO:0004994 cardiomyopathy MONDO:0024643 NCIT:C34830 NCIT:C35544 myocardial disorder MONDO:0005006 clear cell sarcoma of kidney MONDO:0036511 NCIT:C4264 NCIT:C123907 childhood malignant kidney neoplasm -MONDO:0005011 Crohn disease MONDO:0043579 NCIT:C2965 NCIT:C26765 enteritis MONDO:0005026 endometrioid adenocarcinoma MONDO:0002480 NCIT:C3769 NCIT:C7113 endometrioid tumor MONDO:0005033 ganglioneuroma MONDO:0000648 NCIT:C3049 NCIT:C4789 nervous system benign neoplasm MONDO:0005059 leukemia MONDO:0004992 NCIT:C3161 NCIT:C9305 cancer MONDO:0005062 lymphoma MONDO:0004992 NCIT:C3208 NCIT:C9305 cancer -MONDO:0005080 portal hypertension MONDO:0005044 NCIT:C3119 NCIT:C3117 hypertensive disorder MONDO:0005089 sarcoma MONDO:0044334 NCIT:C9118 NCIT:C3810 connective and soft tissue neoplasm -MONDO:0005095 spondyloarthropathy MONDO:0005578 NCIT:C116778 NCIT:C2883 arthritic joint disease -MONDO:0005095 spondyloarthropathy MONDO:0021166 NCIT:C116778 NCIT:C93210 inflammatory disease MONDO:0005105 melanoma MONDO:0004992 NCIT:C3224 NCIT:C9305 cancer -MONDO:0005137 nutritional disorder MONDO:0005066 NCIT:C26836 NCIT:C3235 metabolic disease -MONDO:0005156 encephalomyelitis MONDO:0024619 NCIT:C34580 NCIT:C27582 central nervous system infectious disorder MONDO:0005157 lymphoid neoplasm MONDO:0016537 NCIT:C7065 NCIT:C9308 lymphoproliferative syndrome MONDO:0005166 osteoma MONDO:0045052 NCIT:C3296 NCIT:C6602 benign osteogenic neoplasm MONDO:0005177 serous cystadenoma MONDO:0037256 NCIT:C3783 NCIT:C7074 serous neoplasm MONDO:0005191 metastatic melanoma MONDO:0024880 NCIT:C8925 NCIT:C36263 metastatic malignant neoplasm MONDO:0005197 thymus neoplasm MONDO:0021350 NCIT:C3412 NCIT:C3406 neoplasm of thorax MONDO:0005198 vulvar intraepithelial neoplasia MONDO:0024475 NCIT:C4756 NCIT:C8334 squamous cell intraepithelial neoplasia -MONDO:0005207 choriocarcinoma MONDO:0004992 NCIT:C2948 NCIT:C9305 cancer +MONDO:0005207 choriocarcinoma MONDO:0004993 NCIT:C2948 NCIT:C2916 carcinoma MONDO:0005210 uterine corpus sarcoma MONDO:0018078 NCIT:C6339 NCIT:C9306 soft tissue sarcoma MONDO:0005212 rhabdomyosarcoma MONDO:0002847 NCIT:C3359 NCIT:C6516 skeletal muscle cancer -MONDO:0005244 peripheral neuropathy MONDO:0005244 NCIT:C119734 NCIT:C4731 peripheral neuropathy -MONDO:0005265 inflammatory bowel disease MONDO:0021166 NCIT:C3138 NCIT:C93210 inflammatory disease MONDO:0005272 myelodysplastic syndrome with single lineage dysplasia MONDO:0005272 NCIT:C2872 NCIT:C82591 myelodysplastic syndrome with single lineage dysplasia MONDO:0005278 serous adenocarcinoma MONDO:0037256 NCIT:C40101 NCIT:C7074 serous neoplasm MONDO:0005289 paranasal sinus neoplasm MONDO:0056820 NCIT:C7488 NCIT:C7336 nasal cavity and paranasal sinus neoplasm -MONDO:0005380 osteonecrosis MONDO:0005380 NCIT:C35476 NCIT:C34880 osteonecrosis -MONDO:0005387 primary ovarian failure MONDO:0001889 NCIT:C113352 NCIT:C113351 ovarian dysfunction -MONDO:0005388 primary biliary cholangitis MONDO:0004786 NCIT:C27167 NCIT:C35335 chronic cholangitis -MONDO:0005391 restless legs syndrome MONDO:0002254 NCIT:C84501 NCIT:C28193 syndromic disease -MONDO:0005393 gout MONDO:0005578 NCIT:C34650 NCIT:C2883 arthritic joint disease MONDO:0005438 metastatic malignant neoplasm in the lymph nodes MONDO:0024880 NCIT:C4904 NCIT:C36263 metastatic malignant neoplasm -MONDO:0005446 cutaneous leishmaniasis MONDO:0005446 NCIT:C34770 NCIT:C34768 cutaneous leishmaniasis -MONDO:0005446 cutaneous leishmaniasis MONDO:0021201 NCIT:C34768 NCIT:C35025 skin infection MONDO:0005462 primitive neuroectodermal tumor MONDO:0005872 NCIT:C3716 NCIT:C4788 nervous system cancer MONDO:0005484 colorectal adenoma MONDO:0021444 NCIT:C5673 NCIT:C4610 benign neoplasm of large intestine -MONDO:0005492 urticaria MONDO:0000605 NCIT:C3432 NCIT:C3114 hypersensitivity reaction disease MONDO:0005505 dysembryoplastic neuroepithelial tumor MONDO:0021632 NCIT:C9505 NCIT:C170814 primary brain neoplasm -MONDO:0005550 infectious disease MONDO:0021166 NCIT:C26726 NCIT:C93210 inflammatory disease -MONDO:0005554 rheumatic disorder MONDO:0005046 NCIT:C27204 NCIT:C3507 immune system disorder MONDO:0005605 transitional cell papilloma MONDO:0037254 NCIT:C4115 NCIT:C6783 transitional cell neoplasm -MONDO:0005615 plasmacytoma MONDO:0004992 NCIT:C9349 NCIT:C9305 cancer MONDO:0005636 adenosarcoma MONDO:0044337 NCIT:C9474 NCIT:C6926 stromal sarcoma -MONDO:0005672 blastomycosis MONDO:0005672 NCIT:C34429 NCIT:C34428 blastomycosis -MONDO:0005709 common cold MONDO:0020600 NCIT:C34500 NCIT:C34355 acute pharyngitis -MONDO:0005832 lymphangitis MONDO:0005550 NCIT:C34790 NCIT:C26726 infectious disease -MONDO:0005834 lymphogranuloma venereum MONDO:0020590 NCIT:C26822 NCIT:C26831 mycobacterial infectious disease -MONDO:0005835 Lynch syndrome MONDO:0021190 NCIT:C8494 NCIT:C7757 DNA repair disease -MONDO:0005859 mucocutaneous leishmaniasis MONDO:0005446 NCIT:C34769 NCIT:C34768 cutaneous leishmaniasis MONDO:0005864 muscle cancer MONDO:0021545 NCIT:C4883 NCIT:C4063 myomatous neoplasm -MONDO:0005993 Trichomonas vaginitis urogenital infection MONDO:0023557 NCIT:C35083 NCIT:C84353 infective vaginitis MONDO:0006059 nasal cavity squamous cell carcinoma MONDO:0044787 NCIT:C8192 NCIT:C68611 nasal cavity and paranasal sinus squamous cell carcinoma MONDO:0006060 nasopharyngeal squamous cell carcinoma MONDO:0000536 NCIT:C167265 NCIT:C102872 pharyngeal squamous cell carcinoma MONDO:0006060 nasopharyngeal squamous cell carcinoma MONDO:0015459 NCIT:C167265 NCIT:C3871 nasopharyngeal carcinoma -MONDO:0006078 AIDS-related primary central nervous system lymphoma MONDO:0002571 NCIT:C8284 NCIT:C9301 primary central nervous system lymphoma +MONDO:0006069 ACTH-producing pituitary gland carcinoma MONDO:0006068 NCIT:C5964 NCIT:C7462 ACTH-producing pituitary gland adenoma MONDO:0006088 appendix adenoma MONDO:0021465 NCIT:C43550 NCIT:C4773 benign neoplasm of appendix MONDO:0006107 benign thyroid gland neoplasm MONDO:0021455 NCIT:C3628 NCIT:C4884 benign neoplasm of neck MONDO:0006111 bladder flat intraepithelial lesion MONDO:0004647 NCIT:C37266 NCIT:C2917 in situ carcinoma MONDO:0006116 breast carcinoma by gene expression profile MONDO:0004988 NCIT:C53553 NCIT:C5214 breast adenocarcinoma MONDO:0006123 cardiac rhabdomyoma MONDO:0021509 NCIT:C6739 NCIT:C4607 benign neoplasm of myocardium MONDO:0006141 cervical villoglandular adenocarcinoma MONDO:0000554 NCIT:C40208 NCIT:C127907 endocervical adenocarcinoma +MONDO:0006176 cribriform carcinoma MONDO:0004970 NCIT:C3680 NCIT:C2852 adenocarcinoma MONDO:0006180 digestive system adenoma MONDO:0000385 NCIT:C36207 NCIT:C4787 benign digestive system neoplasm -MONDO:0006188 EBV-positive T-cell lymphoproliferative disorder of childhood MONDO:0006517 NCIT:C80373 NCIT:C4005 childhood malignant neoplasm MONDO:0006190 endolymphatic sac tumor MONDO:0002512 NCIT:C67560 NCIT:C2853 papillary adenocarcinoma MONDO:0006195 endometrial polyp MONDO:0021525 NCIT:C6433 NCIT:C3608 benign neoplasm of corpus uteri MONDO:0006207 fallopian tube carcinosarcoma MONDO:0021576 NCIT:C40124 NCIT:C40111 fallopian tube endometrioid tumor MONDO:0006214 follicular variant thyroid gland papillary carcinoma MONDO:0005075 NCIT:C126594 NCIT:C4035 thyroid gland papillary carcinoma MONDO:0006216 gallbladder adenoma MONDO:0021503 NCIT:C7720 NCIT:C4440 benign neoplasm of gallbladder MONDO:0006221 gastric adenoma MONDO:0021449 NCIT:C7699 NCIT:C3599 benign neoplasm of stomach +MONDO:0006222 gastric choriocarcinoma MONDO:0004950 NCIT:C95749 NCIT:C4911 gastric carcinoma MONDO:0006223 gastric diffuse large B-cell lymphoma MONDO:0042493 NCIT:C5253 NCIT:C27235 gastric non-hodgkin lymphoma -MONDO:0006246 high grade surface osteosarcoma MONDO:0020633 NCIT:C53958 NCIT:C36025 anaplastic cancer -MONDO:0006249 hyperplastic polyp MONDO:0024292 NCIT:C4083 NCIT:C35516 gastrointestinal polyp MONDO:0006270 lobular breast carcinoma in situ MONDO:0000552 NCIT:C4018 NCIT:C3771 breast lobular carcinoma MONDO:0006280 lung sclerosing hemangioma MONDO:0003422 NCIT:C5656 NCIT:C4455 lung adenoma MONDO:0006282 lymphangiosarcoma MONDO:0036870 NCIT:C3205 NCIT:C3723 lymphatic vessel neoplasm @@ -342,181 +281,54 @@ MONDO:0006283 lymphoepithelioma-like lung carcinoma MONDO:0003572 NCIT:C45519 NC MONDO:0006317 neurothekeoma MONDO:0000648 NCIT:C7018 NCIT:C4789 nervous system benign neoplasm MONDO:0006368 phosphaturic mesenchymal tumor MONDO:0002616 NCIT:C67237 NCIT:C7059 mesenchymal cell neoplasm MONDO:0006377 pleural biphasic mesothelioma MONDO:0005112 NCIT:C45665 NCIT:C7376 malignant pleural mesothelioma -MONDO:0006382 poorly differentiated thyroid gland carcinoma MONDO:0024622 NCIT:C6040 NCIT:C27380 thyroid gland adenocarcinoma MONDO:0006385 primary intraosseous squamous cell carcinoma MONDO:0004958 NCIT:C54295 NCIT:C4833 oral cavity squamous cell carcinoma +MONDO:0006388 prolactin-producing pituitary gland carcinoma MONDO:0010911 NCIT:C5962 NCIT:C3342 prolactin-producing pituitary gland adenoma MONDO:0006411 sinonasal undifferentiated carcinoma MONDO:0056819 NCIT:C54294 NCIT:C54293 nasal cavity and paranasal sinus carcinoma +MONDO:0006412 sinus histiocytosis with massive lymphadenopathy MONDO:0006247 NCIT:C36075 NCIT:C9294 histiocytic and dendritic cell neoplasm MONDO:0006438 synovial chondromatosis MONDO:0024715 NCIT:C34467 NCIT:C3829 benign synovial neoplasm MONDO:0006447 testicular non-seminomatous germ cell tumor MONDO:0021656 NCIT:C9313 NCIT:C121619 nongerminomatous germ cell tumor MONDO:0006450 therapy-related myeloid neoplasm MONDO:0024881 NCIT:C27912 NCIT:C4968 secondary malignant neoplasm MONDO:0006465 thyroid gland oncocytic follicular carcinoma MONDO:0005034 NCIT:C4946 NCIT:C8054 thyroid gland follicular carcinoma +MONDO:0006467 thyroid gland squamous cell carcinoma MONDO:0006468 NCIT:C46008 NCIT:C3878 thyroid gland undifferentiated (anaplastic) carcinoma MONDO:0006474 transitional cell carcinoma MONDO:0037254 NCIT:C2930 NCIT:C6783 transitional cell neoplasm MONDO:0006486 uveal melanoma MONDO:0006320 NCIT:C7712 NCIT:C8711 non-cutaneous melanoma MONDO:0006489 vaginal melanoma MONDO:0001402 NCIT:C27394 NCIT:C7410 vaginal cancer MONDO:0006490 vaginal squamous cell carcinoma MONDO:0006490 NCIT:C7736 NCIT:C180915 vaginal squamous cell carcinoma -MONDO:0006497 cerebral palsy MONDO:0005559 NCIT:C34460 NCIT:C4802 neurodegenerative disease -MONDO:0006580 miliaria MONDO:0006547 NCIT:C34820 NCIT:C39594 exanthem -MONDO:0006582 mongolian spot MONDO:0022749 NCIT:C3945 NCIT:C3937 non-neoplastic nevus MONDO:0006622 vulvar seborrheic keratosis MONDO:0000643 NCIT:C6375 NCIT:C3611 vulvar benign neoplasm -MONDO:0006660 arthus reaction MONDO:0007817 NCIT:C34400 NCIT:C3116 IgE responsiveness, atopic MONDO:0006745 endometrioid stromal sarcoma MONDO:0037742 NCIT:C8973 NCIT:C8384 endometrioid stromal and related neoplasms MONDO:0006745 endometrioid stromal sarcoma MONDO:0044337 NCIT:C8973 NCIT:C6926 stromal sarcoma MONDO:0006778 halo nevus MONDO:0044794 NCIT:C7602 NCIT:C7571 benign melanocytic skin nevus MONDO:0006813 intradermal nevus MONDO:0044794 NCIT:C3804 NCIT:C7571 benign melanocytic skin nevus -MONDO:0006858 mouth disorder MONDO:0024623 NCIT:C3240 NCIT:C118420 otorhinolaryngologic disease -MONDO:0006913 pneumococcal meningitis MONDO:0007015 NCIT:C157958 NCIT:C118298 viral meningitis -MONDO:0006938 pyelitis MONDO:0006939 NCIT:C34964 NCIT:C34965 pyelonephritis -MONDO:0006948 retinal artery occlusion MONDO:0020673 NCIT:C34978 NCIT:C35318 arterial occlusion -MONDO:0006982 subacute thyroiditis MONDO:0006982 NCIT:C35828 NCIT:C35071 subacute thyroiditis MONDO:0006998 tonsil cancer MONDO:0005515 NCIT:C7404 NCIT:C9314 oral cavity cancer -MONDO:0007009 ureterolithiasis MONDO:0024647 NCIT:C114696 NCIT:C114688 urolithiasis -MONDO:0007015 viral meningitis MONDO:0005108 NCIT:C118298 NCIT:C3439 viral infectious disease -MONDO:0007113 Angelman syndrome MONDO:0700086 NCIT:C75462 NCIT:C85215 uniparental disomy MONDO:0007203 blue rubber bleb nevus MONDO:0018715 NCIT:C4486 NCIT:C3841 congenital hemangioma -MONDO:0007275 carpal tunnel syndrome MONDO:0002254 NCIT:C34450 NCIT:C28193 syndromic disease -MONDO:0007335 orofacial cleft 1 MONDO:0002254 NCIT:C124838 NCIT:C28193 syndromic disease -MONDO:0007356 Lynch syndrome 1 MONDO:0005835 NCIT:C6725 NCIT:C8494 Lynch syndrome MONDO:0007565 familial cylindromatosis MONDO:0021812 NCIT:C43352 NCIT:C27094 adnexal spiradenoma/cylindroma of a sweat gland -MONDO:0007621 Floating-Harbor syndrome MONDO:0002254 NCIT:C175241 NCIT:C28193 syndromic disease MONDO:0007667 subependymoma MONDO:0021632 NCIT:C3795 NCIT:C170814 primary brain neoplasm MONDO:0007672 glomuvenous malformation MONDO:0002299 NCIT:C5350 NCIT:C4222 glomangioma MONDO:0007708 Kasabach-Merritt syndrome MONDO:0024461 NCIT:C3821 NCIT:C27503 angiomatosis -MONDO:0007803 multiple system atrophy MONDO:0002254 NCIT:C84909 NCIT:C28193 syndromic disease MONDO:0007888 hereditary leiomyomatosis and renal cell cancer MONDO:0003008 NCIT:C51302 NCIT:C39789 hereditary renal cell carcinoma MONDO:0007959 medulloblastoma MONDO:0021317 NCIT:C3222 NCIT:C3569 cancer of cerebellum MONDO:0007959 medulloblastoma MONDO:0021632 NCIT:C3222 NCIT:C170814 primary brain neoplasm -MONDO:0008038 ataxia-pancytopenia syndrome MONDO:0002254 NCIT:C176909 NCIT:C28193 syndromic disease MONDO:0008040 transient myeloproliferative syndrome MONDO:0006517 NCIT:C82339 NCIT:C4005 childhood malignant neoplasm -MONDO:0008093 nevus, epidermal MONDO:0022749 NCIT:C4088 NCIT:C3937 non-neoplastic nevus MONDO:0008145 Ollier disease MONDO:0000631 NCIT:C3008 NCIT:C4880 bone benign neoplasm MONDO:0008167 dermoid cyst of ovary MONDO:0003820 NCIT:C3856 NCIT:C8112 mature ovarian teratoma MONDO:0008168 ovarian fibroma MONDO:0024387 NCIT:C3498 NCIT:C6803 benign ovarian sex cord-stromal tumor -MONDO:0008277 stomach polyp MONDO:0024292 NCIT:C3954 NCIT:C35516 gastrointestinal polyp -MONDO:0008283 Cronkhite-Canada syndrome MONDO:0006224 NCIT:C7035 NCIT:C4373 gastric hamartomatous polyp -MONDO:0008300 Prader-Willi syndrome MONDO:0700086 NCIT:C75463 NCIT:C85215 uniparental disomy -MONDO:0008318 Proteus syndrome MONDO:0021058 NCIT:C85032 NCIT:C54705 neoplastic syndrome MONDO:0008380 retinoblastoma MONDO:0002714 NCIT:C7541 NCIT:C4627 central nervous system cancer MONDO:0008420 seborrheic keratosis MONDO:0002093 NCIT:C9006 NCIT:C7419 acanthoma -MONDO:0008553 platelet-type bleeding disorder 17 MONDO:0001531 NCIT:C142084 NCIT:C2902 blood coagulation disease -MONDO:0008608 Down syndrome MONDO:0002254 NCIT:C2993 NCIT:C28193 syndromic disease -MONDO:0008608 Down syndrome MONDO:0003847 NCIT:C2993 NCIT:C3101 hereditary disease -MONDO:0008738 aganglionosis, total intestinal MONDO:0018309 NCIT:C101074 NCIT:C34700 Hirschsprung disease -MONDO:0008814 hyperargininemia MONDO:0037871 NCIT:C84568 NCIT:C97090 amino acid metabolism disease -MONDO:0008840 ataxia telangiectasia MONDO:0021190 NCIT:C2887 NCIT:C7757 DNA repair disease -MONDO:0008840 ataxia telangiectasia MONDO:0042983 NCIT:C2887 NCIT:C84348 neurocutaneous syndrome -MONDO:0008858 Behr syndrome MONDO:0002254 NCIT:C177251 NCIT:C28193 syndromic disease -MONDO:0008876 Bloom syndrome MONDO:0015356 NCIT:C2903 NCIT:C3266 hereditary neoplastic syndrome -MONDO:0008915 dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome MONDO:0002254 NCIT:C174217 NCIT:C28193 syndromic disease MONDO:0008977 chondrosarcoma MONDO:0024469 NCIT:C2946 NCIT:C4755 chondrogenic neoplasm MONDO:0008978 chordoma MONDO:0002129 NCIT:C2947 NCIT:C4016 bone cancer -MONDO:0009033 temtamy syndrome MONDO:0002254 NCIT:C148371 NCIT:C28193 syndromic disease -MONDO:0009072 Dandy-Walker syndrome MONDO:0002254 NCIT:C75012 NCIT:C28193 syndromic disease -MONDO:0009126 duodenal atresia MONDO:0009476 NCIT:C101025 NCIT:C98828 atresia of small intestine -MONDO:0009131 Riley-Day syndrome MONDO:0044872 NCIT:C84706 NCIT:C53439 dysautonomia -MONDO:0009141 torsion dystonia 2 MONDO:0007492 NCIT:C123415 NCIT:C116718 early-onset generalized limb-onset dystonia -MONDO:0009197 transient erythroblastopenia of childhood MONDO:0020338 NCIT:C131683 NCIT:C70548 adult pure red cell aplasia -MONDO:0009234 congenital high-molecular-weight kininogen deficiency MONDO:0009332 NCIT:C98946 NCIT:C104003 congenital hematological disorder -MONDO:0009281 glutaryl-CoA dehydrogenase deficiency MONDO:0037871 NCIT:C99101 NCIT:C97090 amino acid metabolism disease -MONDO:0009318 Hallermann-Streiff syndrome MONDO:0002254 NCIT:C84746 NCIT:C28193 syndromic disease -MONDO:0009476 atresia of small intestine MONDO:0001045 NCIT:C98828 NCIT:C84790 intestinal atresia -MONDO:0009520 3-hydroxy-3-methylglutaric aciduria MONDO:0037871 NCIT:C84523 NCIT:C97090 amino acid metabolism disease -MONDO:0009646 monosomy 7 myelodysplasia and leukemia syndrome 1 MONDO:0015356 NCIT:C176908 NCIT:C3266 hereditary neoplastic syndrome MONDO:0009692 primary myelofibrosis MONDO:0044903 NCIT:C2862 NCIT:C3248 myelofibrosis -MONDO:0009720 Keipert syndrome MONDO:0002254 NCIT:C186306 NCIT:C28193 syndromic disease MONDO:0009807 osteosarcoma MONDO:0045053 NCIT:C9145 NCIT:C6603 osteogenic neoplasm -MONDO:0009862 dihydropteridine reductase deficiency MONDO:0009861 NCIT:C138173 NCIT:C81315 phenylketonuria -MONDO:0009863 BH4-deficient hyperphenylalaninemia A MONDO:0009861 NCIT:C138171 NCIT:C81315 phenylketonuria -MONDO:0009865 glycogen storage disease due to phosphoglycerate mutase deficiency MONDO:0020585 NCIT:C131647 NCIT:C131630 anemia due to erythrocyte enzyme disorder -MONDO:0009869 isolated Pierre-Robin syndrome MONDO:0002254 NCIT:C85010 NCIT:C28193 syndromic disease -MONDO:0009924 vitamin D-dependent rickets, type 1 MONDO:0100471 NCIT:C131073 NCIT:C114830 vitamin D deficiency -MONDO:0009949 pyruvate carboxylase deficiency disease MONDO:0037871 NCIT:C85040 NCIT:C97090 amino acid metabolism disease -MONDO:0010004 EEC syndrome MONDO:0019287 NCIT:C148261 NCIT:C84683 ectodermal dysplasia syndrome -MONDO:0010196 Werner syndrome MONDO:0015356 NCIT:C3447 NCIT:C3266 hereditary neoplastic syndrome -MONDO:0010196 Werner syndrome MONDO:0021190 NCIT:C3447 NCIT:C7757 DNA repair disease -MONDO:0010281 Danon disease MONDO:0009290 NCIT:C84735 NCIT:C84734 glycogen storage disease II -MONDO:0010293 ectodermal dysplasia and immune deficiency MONDO:0021094 NCIT:C118844 NCIT:C3131 immunodeficiency disease -MONDO:0010305 creatine transporter deficiency MONDO:0000425 NCIT:C125665 NCIT:C85865 X-linked disease -MONDO:0010305 creatine transporter deficiency MONDO:0002254 NCIT:C125665 NCIT:C28193 syndromic disease -MONDO:0010308 thrombocytopenia, X-linked, with or without dyserythropoietic anemia MONDO:0009332 NCIT:C136653 NCIT:C104003 congenital hematological disorder -MONDO:0010421 Bruton-type agammaglobulinemia MONDO:0015356 NCIT:C3822 NCIT:C3266 hereditary neoplastic syndrome -MONDO:0010507 Xq25 microduplication syndrome MONDO:0002254 NCIT:C177544 NCIT:C28193 syndromic disease -MONDO:0010595 Sertoli cell-only syndrome MONDO:0002254 NCIT:C168988 NCIT:C28193 syndromic disease -MONDO:0010683 X-linked myotubular myopathy MONDO:0002921 NCIT:C118781 NCIT:C84648 congenital structural myopathy -MONDO:0010725 X-linked retinoschisis MONDO:0002254 NCIT:C75483 NCIT:C28193 syndromic disease -MONDO:0010743 thrombocytopenia 1 MONDO:0009332 NCIT:C176617 NCIT:C104003 congenital hematological disorder -MONDO:0010745 beta-thalassemia-X-linked thrombocytopenia syndrome MONDO:0009332 NCIT:C134941 NCIT:C104003 congenital hematological disorder -MONDO:0010810 vitamin D hydroxylation-deficient rickets, type 1B MONDO:0100471 NCIT:C131074 NCIT:C114830 vitamin D deficiency -MONDO:0010886 2q37 microdeletion syndrome MONDO:0002254 NCIT:C129021 NCIT:C28193 syndromic disease -MONDO:0010909 UV-sensitive syndrome 1 MONDO:0002254 NCIT:C173106 NCIT:C28193 syndromic disease -MONDO:0011055 distal monosomy 10p MONDO:0002254 NCIT:C130982 NCIT:C28193 syndromic disease -MONDO:0011094 dilated cardiomyopathy 1C MONDO:0005021 NCIT:C170436 NCIT:C84673 dilated cardiomyopathy MONDO:0011118 bilineal acute myeloid leukemia MONDO:0020743 NCIT:C6923 NCIT:C82179 mixed phenotype acute leukemia MONDO:0011368 papillary thyroid Microcarcinoma MONDO:0005075 NCIT:C46004 NCIT:C4035 thyroid gland papillary carcinoma -MONDO:0011479 postural orthostatic tachycardia syndrome MONDO:0002254 NCIT:C85020 NCIT:C28193 syndromic disease -MONDO:0011612 glycine encephalopathy MONDO:0002320 NCIT:C84937 NCIT:C97172 congenital nervous system disorder MONDO:0011655 alveolar soft part sarcoma MONDO:0011655 NCIT:C7943 NCIT:C3750 alveolar soft part sarcoma -MONDO:0011876 juvenile absence epilepsy MONDO:0005579 NCIT:C129868 NCIT:C3021 epilepsy, idiopathic generalized +MONDO:0011908 juvenile myelomonocytic leukemia MONDO:0006517 NCIT:C9233 NCIT:C4005 childhood malignant neoplasm MONDO:0011927 tufted angioma MONDO:0002407 NCIT:C4487 NCIT:C7457 capillary hemangioma -MONDO:0011929 chromosome 1p36 deletion syndrome MONDO:0002254 NCIT:C74983 NCIT:C28193 syndromic disease -MONDO:0012016 capillary malformation-arteriovenous malformation syndrome MONDO:0021060 NCIT:C179668 NCIT:C179667 RASopathy -MONDO:0012081 15q11q13 microduplication syndrome MONDO:0002254 NCIT:C126692 NCIT:C28193 syndromic disease -MONDO:0012105 granulomatosis with polyangiitis MONDO:0000473 NCIT:C3444 NCIT:C35317 arterial disorder -MONDO:0012231 Charcot-Marie-Tooth disease type 2A2 MONDO:0007308 NCIT:C150646 NCIT:C134952 Charcot-Marie-Tooth disease type 2A1 -MONDO:0012249 Lynch syndrome 2 MONDO:0005835 NCIT:C6726 NCIT:C8494 Lynch syndrome -MONDO:0012392 2-methylbutyryl-CoA dehydrogenase deficiency MONDO:0037871 NCIT:C98863 NCIT:C97090 amino acid metabolism disease -MONDO:0012756 proximal 16p11.2 microdeletion syndrome MONDO:0002254 NCIT:C120408 NCIT:C28193 syndromic disease -MONDO:0012833 Crouzon syndrome-acanthosis nigricans syndrome MONDO:0100313 NCIT:C38145 NCIT:C37308 focal segmental glomerulosclerosis -MONDO:0013129 cone dystrophy 4 MONDO:0018852 NCIT:C164226 NCIT:C84528 achromatopsia -MONDO:0013171 purine nucleoside phosphorylase deficiency MONDO:0005046 NCIT:C176817 NCIT:C3507 immune system disorder -MONDO:0013171 purine nucleoside phosphorylase deficiency MONDO:0015974 NCIT:C3963 NCIT:C3472 severe combined immunodeficiency -MONDO:0013252 Warsaw breakage syndrome MONDO:0002254 NCIT:C164675 NCIT:C28193 syndromic disease -MONDO:0013252 Warsaw breakage syndrome MONDO:0021190 NCIT:C164675 NCIT:C7757 DNA repair disease -MONDO:0013270 Rett syndrome, congenital variant MONDO:0010726 NCIT:C176903 NCIT:C75488 Rett syndrome -MONDO:0013563 multiple congenital anomalies-hypotonia-seizures syndrome 1 MONDO:0002254 NCIT:C176896 NCIT:C28193 syndromic disease -MONDO:0013688 linear and whorled nevoid hypermelanosis MONDO:0022749 NCIT:C3924 NCIT:C3937 non-neoplastic nevus -MONDO:0013730 graft versus host disease MONDO:0045054 NCIT:C3063 NCIT:C8278 cancer-related condition -MONDO:0013779 Wiskott-Aldrich syndrome 2 MONDO:0015131 NCIT:C176820 NCIT:C27871 combined immunodeficiency -MONDO:0013829 UV-sensitive syndrome 2 MONDO:0002254 NCIT:C173110 NCIT:C28193 syndromic disease -MONDO:0013834 UV-sensitive syndrome 3 MONDO:0002254 NCIT:C173107 NCIT:C28193 syndromic disease -MONDO:0013867 brown-Vialetto-van Laere syndrome 2 MONDO:0002254 NCIT:C183529 NCIT:C28193 syndromic disease -MONDO:0013867 brown-Vialetto-van Laere syndrome 2 MONDO:0008890 NCIT:C183529 NCIT:C85026 progressive bulbar palsy -MONDO:0014005 immunoglobulin-mediated membranoproliferative glomerulonephritis MONDO:0002461 NCIT:C123055 NCIT:C34644 membranoproliferative glomerulonephritis -MONDO:0014220 myopathy due to myoadenylate deaminase deficiency MONDO:0020123 NCIT:C157504 NCIT:C98985 metabolic myopathy -MONDO:0014659 infantile liver failure syndrome 2 MONDO:0002254 NCIT:C158135 NCIT:C28193 syndromic disease -MONDO:0014873 nevus comedonicus syndrome MONDO:0020979 NCIT:C3946 NCIT:C5565 pilosebaceous hamartoma -MONDO:0014906 Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2a2b; MONDO:0007308 NCIT:C150647 NCIT:C134952 Charcot-Marie-Tooth disease type 2A1 MONDO:0015074 thyroid tumor MONDO:0021351 NCIT:C3414 NCIT:C3260 neoplasm of neck -MONDO:0015104 porphyria cutanea tarda MONDO:0019142 NCIT:C27725 NCIT:C97096 inherited porphyria -MONDO:0015128 primary adrenal insufficiency MONDO:0000004 NCIT:C113172 NCIT:C26691 adrenocortical insufficiency -MONDO:0015167 amniotic band syndrome MONDO:0002254 NCIT:C84552 NCIT:C28193 syndromic disease -MONDO:0015183 short bowel syndrome MONDO:0002254 NCIT:C99059 NCIT:C28193 syndromic disease -MONDO:0015253 Diamond-Blackfan anemia MONDO:0009332 NCIT:C61236 NCIT:C104003 congenital hematological disorder -MONDO:0015285 Carney complex MONDO:0015356 NCIT:C4705 NCIT:C3266 hereditary neoplastic syndrome -MONDO:0015286 congenital disorder of glycosylation MONDO:0002254 NCIT:C84615 NCIT:C28193 syndromic disease -MONDO:0015286 congenital disorder of glycosylation MONDO:0019214 NCIT:C84615 NCIT:C97089 inborn carbohydrate metabolic disorder -MONDO:0015436 ring chromosome 20 MONDO:0002254 NCIT:C169001 NCIT:C28193 syndromic disease MONDO:0015447 differentiated thyroid carcinoma MONDO:0024622 NCIT:C7153 NCIT:C27380 thyroid gland adenocarcinoma -MONDO:0015515 carnitine palmitoyltransferase II deficiency MONDO:0037858 NCIT:C114766 NCIT:C117115 inherited fatty acid metabolism disorder -MONDO:0015524 hyperplastic polyposis syndrome MONDO:0021392 NCIT:C165469 NCIT:C5679 polyp of large intestine MONDO:0015534 juvenile xanthogranuloma MONDO:0021440 NCIT:C3451 NCIT:C2896 benign neoplasm of skin -MONDO:0015540 hemophagocytic syndrome MONDO:0015540 NCIT:C34792 NCIT:C35439 hemophagocytic syndrome -MONDO:0015564 Castleman disease MONDO:0044921 NCIT:C3056 NCIT:C7764 atypical lymphoproliferative disorder -MONDO:0015612 Dent disease MONDO:0005520 NCIT:C123260 NCIT:C26878 rickets MONDO:0015688 myeloid/lymphoid neoplasms associated with eosinophilia and abnormality of PDGFRA, PDGFRB, FGFR1 or JAK2 MONDO:0004992 NCIT:C84270 NCIT:C9305 cancer MONDO:0015760 T-cell non-Hodgkin lymphoma MONDO:0024615 NCIT:C3466 NCIT:C27908 T-cell and NK-cell neoplasm -MONDO:0015776 rhizomelic chondrodysplasia punctata MONDO:0019234 NCIT:C85047 NCIT:C155747 peroxisome biogenesis disorder -MONDO:0015813 primary cutaneous marginal zone B-cell lymphoma MONDO:0007650 NCIT:C7230 NCIT:C3898 MALT lymphoma MONDO:0015864 mixed germ cell tumor MONDO:0021043 NCIT:C4290 NCIT:C6930 mixed neoplasm -MONDO:0015912 macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss MONDO:0015912 NCIT:C131646 NCIT:C158788 macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss -MONDO:0016004 aminopterin/methotrexate embryofetopathy MONDO:0002254 NCIT:C98928 NCIT:C28193 syndromic disease -MONDO:0016006 Cockayne syndrome MONDO:0002254 NCIT:C9460 NCIT:C28193 syndromic disease -MONDO:0016012 diethylstilbestrol syndrome MONDO:0002254 NCIT:C113422 NCIT:C28193 syndromic disease -MONDO:0016035 Nelson syndrome MONDO:0002254 NCIT:C84917 NCIT:C28193 syndromic disease -MONDO:0016063 Cowden disease MONDO:0017623 NCIT:C3076 NCIT:C179915 PTEN hamartoma tumor syndrome -MONDO:0016367 dermatomyositis MONDO:0007179 NCIT:C26744 NCIT:C2889 autoimmune disease -MONDO:0016489 delta-beta-thalassemia MONDO:0019402 NCIT:C172823 NCIT:C34375 beta thalassemia -MONDO:0016537 lymphoproliferative syndrome MONDO:0005570 NCIT:C9308 NCIT:C26323 hematologic disorder -MONDO:0016576 split hand-foot malformation MONDO:0002254 NCIT:C75000 NCIT:C28193 syndromic disease -MONDO:0016664 drug-induced vasculitis MONDO:0020576 NCIT:C112204 NCIT:C112210 cutaneous vasculitis MONDO:0016682 giant cell glioblastoma MONDO:0002402 NCIT:C4325 NCIT:C4090 malignant giant cell tumor MONDO:0016683 gliomatosis cerebri MONDO:0021632 NCIT:C4318 NCIT:C170814 primary brain neoplasm MONDO:0016684 anaplastic astrocytoma MONDO:0021640 NCIT:C9477 NCIT:C127816 grade III glioma @@ -532,99 +344,55 @@ MONDO:0016739 yolk sac tumor of central nervous system MONDO:0020574 NCIT:C7011 MONDO:0016742 mixed germ cell tumor of central nervous system MONDO:0005853 NCIT:C7016 NCIT:C3729 malignant mixed neoplasm MONDO:0016751 malignant perineurioma MONDO:0017827 NCIT:C66845 NCIT:C3798 malignant peripheral nerve sheath tumor MONDO:0016755 neurofibroma MONDO:0000648 NCIT:C3272 NCIT:C4789 nervous system benign neoplasm -MONDO:0016812 dopa-responsive dystonia MONDO:0044807 NCIT:C116719 NCIT:C35527 inherited dystonia -MONDO:0016984 nevus of Ota MONDO:0022749 NCIT:C7583 NCIT:C3937 non-neoplastic nevus -MONDO:0016985 nevus of Ito MONDO:0022749 NCIT:C7582 NCIT:C3937 non-neoplastic nevus -MONDO:0016990 acquired prothrombin deficiency MONDO:0013361 NCIT:C131622 NCIT:C131737 congenital prothrombin deficiency -MONDO:0016990 acquired prothrombin deficiency MONDO:0020599 NCIT:C131622 NCIT:C34347 acquired coagulation factor deficiency MONDO:0017050 intraocular medulloepithelioma MONDO:0021229 NCIT:C66806 NCIT:C4364 ciliary body neoplasm MONDO:0017169 multiple endocrine neoplasia MONDO:0002082 NCIT:C6432 NCIT:C3010 endocrine gland neoplasm MONDO:0017340 juvenile nasopharyngeal angiofibroma MONDO:0021478 NCIT:C27479 NCIT:C3595 benign neoplasm of nasopharynx -MONDO:0017582 pituitary adenocarcinoma MONDO:0040677 NCIT:C4536 NCIT:C9480 invasive carcinoma -MONDO:0017623 PTEN hamartoma tumor syndrome MONDO:0015356 NCIT:C179915 NCIT:C3266 hereditary neoplastic syndrome -MONDO:0017648 Sydenham chorea MONDO:0001595 NCIT:C168445 NCIT:C84633 choreatic disease -MONDO:0017767 rheumatic fever MONDO:0005113 NCIT:C34984 NCIT:C2890 bacterial infectious disease -MONDO:0017778 lamellar ichthyosis MONDO:0019269 NCIT:C84805 NCIT:C84776 ichthyosis -MONDO:0017790 gastric adenocarcinoma and proximal polyposis of the stomach MONDO:0015356 NCIT:C172989 NCIT:C3266 hereditary neoplastic syndrome -MONDO:0017799 Meigs syndrome MONDO:0045054 NCIT:C3223 NCIT:C8278 cancer-related condition -MONDO:0017842 Senior-Loken syndrome MONDO:0002254 NCIT:C168588 NCIT:C28193 syndromic disease -MONDO:0018067 triploidy MONDO:0002254 NCIT:C85204 NCIT:C28193 syndromic disease -MONDO:0018092 Vogt-Koyanagi-Harada disease MONDO:0002254 NCIT:C85218 NCIT:C28193 syndromic disease +MONDO:0017582 pituitary adenocarcinoma MONDO:0006373 NCIT:C4536 NCIT:C3329 pituitary gland adenoma MONDO:0018153 Erdheim-Chester disease MONDO:0006247 NCIT:C53972 NCIT:C9294 histiocytic and dendritic cell neoplasm MONDO:0018177 glioblastoma MONDO:0020633 NCIT:C3058 NCIT:C36025 anaplastic cancer -MONDO:0018181 staphylococcal scalded skin syndrome MONDO:0002254 NCIT:C85077 NCIT:C28193 syndromic disease MONDO:0018193 testicular teratoma MONDO:0002874 NCIT:C3877 NCIT:C39915 testicular pure germ cell tumor MONDO:0018193 testicular teratoma MONDO:0006233 NCIT:C3877 NCIT:C98291 gonadal teratoma MONDO:0018193 testicular teratoma MONDO:0006447 NCIT:C3877 NCIT:C9313 testicular non-seminomatous germ cell tumor -MONDO:0018214 generalized epilepsy with febrile seizures plus MONDO:0005579 NCIT:C122811 NCIT:C3021 epilepsy, idiopathic generalized +MONDO:0018308 liver mesenchymal hamartoma MONDO:0021077 NCIT:C5751 NCIT:C6784 cystic neoplasm +MONDO:0018308 liver mesenchymal hamartoma MONDO:0044335 NCIT:C5751 NCIT:C4242 benign soft tissue neoplasm MONDO:0018369 immature ovarian teratoma MONDO:0024746 NCIT:C8111 NCIT:C4286 immature teratoma MONDO:0018449 acquired cystic disease-associated renal cell carcinoma MONDO:0005549 NCIT:C157718 NCIT:C9385 renal cell adenocarcinoma -MONDO:0018493 malignant hyperthermia of anesthesia MONDO:0002254 NCIT:C84869 NCIT:C28193 syndromic disease -MONDO:0018540 PFAPA syndrome MONDO:0007179 NCIT:C116917 NCIT:C2889 autoimmune disease -MONDO:0018613 AH amyloidosis MONDO:0017816 NCIT:C158962 NCIT:C8299 primary systemic amyloidosis -MONDO:0018648 Keratocystic odontogenic tumor MONDO:0006328 NCIT:C54302 NCIT:C54220 odontogenic cyst -MONDO:0018674 IgG4-related submandibular gland disease MONDO:0006969 NCIT:C82887 NCIT:C26882 sialadenitis MONDO:0018815 aneurysmal bone cyst MONDO:0000631 NCIT:C3516 NCIT:C4880 bone benign neoplasm +MONDO:0018815 aneurysmal bone cyst MONDO:0021077 NCIT:C3516 NCIT:C6784 cystic neoplasm MONDO:0018881 myelodysplastic syndrome MONDO:0005170 NCIT:C3247 NCIT:C9290 myeloid neoplasm MONDO:0018881 myelodysplastic syndrome MONDO:0021138 NCIT:C3247 NCIT:C35501 bone marrow cancer MONDO:0018902 hepatocellular adenoma MONDO:0006180 NCIT:C3758 NCIT:C36207 digestive system adenoma +MONDO:0018907 craniopharyngioma MONDO:0021077 NCIT:C2964 NCIT:C6784 cystic neoplasm MONDO:0018907 craniopharyngioma MONDO:0021451 NCIT:C2964 NCIT:C4781 benign neoplasm of brain -MONDO:0018910 oculocutaneous albinism MONDO:0043209 NCIT:C84941 NCIT:C84543 albinism MONDO:0018936 osteoblastoma MONDO:0045052 NCIT:C3294 NCIT:C6602 benign osteogenic neoplasm -MONDO:0018950 3-methylcrotonyl-CoA carboxylase deficiency MONDO:0037871 NCIT:C98674 NCIT:C97090 amino acid metabolism disease MONDO:0018961 familial melanoma MONDO:0005012 NCIT:C8498 NCIT:C3510 cutaneous melanoma -MONDO:0018963 hereditary methemoglobinemia MONDO:0009332 NCIT:C98898 NCIT:C104003 congenital hematological disorder -MONDO:0018989 recurrent acute pancreatitis MONDO:0006515 NCIT:C184324 NCIT:C95437 acute pancreatitis -MONDO:0019040 chromosomal disorder MONDO:0003847 NCIT:C34470 NCIT:C3101 hereditary disease -MONDO:0019050 inherited hemoglobinopathy MONDO:0009332 NCIT:C3092 NCIT:C104003 congenital hematological disorder -MONDO:0019065 amyloidosis MONDO:0045054 NCIT:C2868 NCIT:C8278 cancer-related condition -MONDO:0019118 inherited retinal dystrophy MONDO:0019118 NCIT:C35194 NCIT:C35625 inherited retinal dystrophy -MONDO:0019127 polymyositis MONDO:0005554 NCIT:C26925 NCIT:C27204 rheumatic disorder -MONDO:0019234 peroxisome biogenesis disorder MONDO:0019234 NCIT:C146639 NCIT:C155747 peroxisome biogenesis disorder -MONDO:0019319 verrucous nevus MONDO:0022749 NCIT:C4674 NCIT:C3937 non-neoplastic nevus -MONDO:0019338 sarcoidosis MONDO:0007179 NCIT:C34995 NCIT:C2889 autoimmune disease -MONDO:0019339 47,XYY syndrome MONDO:0002254 NCIT:C85237 NCIT:C28193 syndromic disease -MONDO:0019403 congenital dyserythropoietic anemia MONDO:0000577 NCIT:C84646 NCIT:C35228 congenital anemia MONDO:0019404 perineurioma MONDO:0000648 NCIT:C4973 NCIT:C4789 nervous system benign neoplasm -MONDO:0019438 AL amyloidosis MONDO:0017816 NCIT:C158963 NCIT:C8299 primary systemic amyloidosis MONDO:0019456 acute myeloid leukemia with multilineage dysplasia MONDO:0100409 NCIT:C9289 NCIT:C7600 acute myeloid leukemia, t(3;5)(q25;q34) MONDO:0019457 therapy related acute myeloid leukemia and myelodysplastic syndrome MONDO:0024881 NCIT:C25765 NCIT:C4968 secondary malignant neoplasm +MONDO:0019467 CD4+/CD56+ hematodermic neoplasm MONDO:0006247 NCIT:C7203 NCIT:C9294 histiocytic and dendritic cell neoplasm MONDO:0019471 adult T-cell leukemia/lymphoma MONDO:0000430 NCIT:C3184 NCIT:C3468 mature T-cell and NK-cell non-Hodgkin lymphoma MONDO:0019472 extranodal nasal NK/T cell lymphoma MONDO:0000430 NCIT:C4684 NCIT:C3468 mature T-cell and NK-cell non-Hodgkin lymphoma MONDO:0019474 hepatosplenic T-cell lymphoma MONDO:0000430 NCIT:C8459 NCIT:C3468 mature T-cell and NK-cell non-Hodgkin lymphoma MONDO:0019475 subcutaneous panniculitis-like T-cell lymphoma MONDO:0000607 NCIT:C6918 NCIT:C3467 primary cutaneous T-cell non-Hodgkin lymphoma MONDO:0019479 histiocytic sarcoma MONDO:0005089 NCIT:C27349 NCIT:C9118 sarcoma -MONDO:0019509 cutaneous leukocytoclastic angiitis MONDO:0020576 NCIT:C122919 NCIT:C112210 cutaneous vasculitis -MONDO:0019610 Zollinger-Ellison syndrome MONDO:0045072 NCIT:C3453 NCIT:C4065 ectopic hormone secretion syndrome associated with neoplasia -MONDO:0019716 overgrowth syndrome MONDO:0002254 NCIT:C94828 NCIT:C28193 syndromic disease -MONDO:0019736 dense deposit disease MONDO:0002461 NCIT:C123039 NCIT:C34644 membranoproliferative glomerulonephritis -MONDO:0019755 developmental defect during embryogenesis MONDO:0002254 NCIT:C99267 NCIT:C28193 syndromic disease -MONDO:0019933 acromegaly MONDO:0002254 NCIT:C84533 NCIT:C28193 syndromic disease MONDO:0019959 glucagonoma MONDO:0023206 NCIT:C95597 NCIT:C45840 functional pancreatic neuroendocrine tumor MONDO:0020179 palpebral nevus MONDO:0044794 NCIT:C3880 NCIT:C7571 benign melanocytic skin nevus MONDO:0020317 acute myeloid leukemia with 11q23 abnormalities MONDO:0100404 NCIT:C82403 NCIT:C174129 acute myeloid leukemia, MLL gene rearrangement MONDO:0020325 anaplastic large cell lymphoma MONDO:0020633 NCIT:C3720 NCIT:C36025 anaplastic cancer +MONDO:0020334 mast cell leukemia MONDO:0004643 NCIT:C3169 NCIT:C3172 myeloid leukemia MONDO:0020511 precursor B-cell acute lymphoblastic leukemia MONDO:0004947 NCIT:C8644 NCIT:C8936 B-cell acute lymphoblastic leukemia -MONDO:0020598 malabsorption syndrome MONDO:0002254 NCIT:C3214 NCIT:C28193 syndromic disease MONDO:0020634 grade III meningioma MONDO:0021322 NCIT:C38938 NCIT:C4628 malignant tumor of meninges MONDO:0020646 ocular adnexal lymphoma MONDO:0004034 NCIT:C88145 NCIT:C35690 eye lymphoma -MONDO:0020712 46,XY sex reversal 1 MONDO:0020040 NCIT:C128188 NCIT:C127171 46,XY disorder of sex development -MONDO:0020804 basal cell carcinoma MONDO:0020804 NCIT:C156767 NCIT:C7586 basal cell carcinoma MONDO:0021039 extraskeletal Ewing sarcoma/peripheral primitive neuroectodermal tumor MONDO:0024637 NCIT:C27293 NCIT:C4867 malignant soft tissue neoplasm -MONDO:0021060 RASopathy MONDO:0002254 NCIT:C179667 NCIT:C28193 syndromic disease MONDO:0021065 pleural neoplasm MONDO:0021350 NCIT:C3332 NCIT:C3406 neoplasm of thorax MONDO:0021071 laryngeal neoplasm MONDO:0021351 NCIT:C3156 NCIT:C3260 neoplasm of neck -MONDO:0021074 precancerous condition MONDO:0045054 NCIT:C3341 NCIT:C8278 cancer-related condition -MONDO:0021081 anti-NMDA receptor encephalitis MONDO:0020640 NCIT:C94853 NCIT:C122414 autoimmune encephalitis MONDO:0021086 gingival neoplasm MONDO:0021245 NCIT:C3057 NCIT:C7606 oral cavity neoplasm MONDO:0021088 papillary meningioma MONDO:0020634 NCIT:C3904 NCIT:C38938 grade III meningioma MONDO:0021090 lipid-rich breast carcinoma MONDO:0004953 NCIT:C40365 NCIT:C4194 invasive ductal breast carcinoma MONDO:0021090 lipid-rich breast carcinoma MONDO:0005004 NCIT:C40365 NCIT:C3766 clear cell adenocarcinoma -MONDO:0021094 immunodeficiency disease MONDO:0002254 NCIT:C3131 NCIT:C28193 syndromic disease MONDO:0021110 sweat gland adenoma MONDO:0021489 NCIT:C7560 NCIT:C4879 benign neoplasm of sweat gland MONDO:0021112 scrotum cancer MONDO:0002898 NCIT:C3560 NCIT:C2920 skin cancer MONDO:0021123 Ewing sarcoma/peripheral primitive neuroectodermal tumor of bone MONDO:0002129 NCIT:C35871 NCIT:C4016 bone cancer -MONDO:0021133 acquired factor XIII deficiency MONDO:0018029 NCIT:C131629 NCIT:C131633 congenital factor XIII deficiency MONDO:0021192 odontogenic neoplasm MONDO:0021245 NCIT:C3286 NCIT:C7606 oral cavity neoplasm MONDO:0021222 lacrimal gland neoplasm MONDO:0002460 NCIT:C4360 NCIT:C5102 lacrimal system cancer MONDO:0021223 digestive system neoplasm MONDO:0004335 NCIT:C3052 NCIT:C2990 digestive system disorder @@ -651,8 +419,6 @@ MONDO:0021360 tumor of parathyroid gland MONDO:0021351 NCIT:C3313 NCIT:C3260 neo MONDO:0021381 neoplasm of pericardium MONDO:0021209 NCIT:C4651 NCIT:C3081 heart neoplasm MONDO:0021383 neoplasm of floor of mouth MONDO:0021245 NCIT:C4401 NCIT:C7606 oral cavity neoplasm MONDO:0021390 polyp of ureter MONDO:0001398 NCIT:C4530 NCIT:C3617 ureter benign neoplasm -MONDO:0021392 polyp of large intestine MONDO:0024292 NCIT:C5679 NCIT:C35516 gastrointestinal polyp -MONDO:0021416 polyp of gallbladder MONDO:0024292 NCIT:C3909 NCIT:C35516 gastrointestinal polyp MONDO:0021444 benign neoplasm of large intestine MONDO:0005335 NCIT:C4610 NCIT:C2956 colorectal neoplasm MONDO:0021451 benign neoplasm of brain MONDO:0021632 NCIT:C4781 NCIT:C170814 primary brain neoplasm MONDO:0021456 benign neoplasm of sternum MONDO:0021529 NCIT:C8416 NCIT:C8529 benign neoplasm of chest wall @@ -677,62 +443,24 @@ MONDO:0021578 sternal neoplasm MONDO:0021388 NCIT:C6730 NCIT:C4929 neoplasm of c MONDO:0021607 eyelid seborrheic keratosis MONDO:0021605 NCIT:C4356 NCIT:C4354 benign eyelid neoplasm MONDO:0021632 primary brain neoplasm MONDO:0021632 NCIT:C4952 NCIT:C170814 primary brain neoplasm MONDO:0021638 low grade astrocytic tumor MONDO:0019781 NCIT:C116342 NCIT:C60781 astrocytoma (excluding glioblastoma) -MONDO:0021651 synpolydactyly MONDO:0002254 NCIT:C75003 NCIT:C28193 syndromic disease -MONDO:0021658 vascular ectasia MONDO:0024287 NCIT:C45481 NCIT:C112117 congenital vascular malformation -MONDO:0021915 arakawa syndrome 2 MONDO:0004737 NCIT:C99081 NCIT:C84765 homocystinuria -MONDO:0021977 basaloid follicular hamartoma MONDO:0020979 NCIT:C4749 NCIT:C5565 pilosebaceous hamartoma MONDO:0022394 cervical intraepithelial neoplasia MONDO:0021230 NCIT:C3782 NCIT:C2940 uterine cervix neoplasm MONDO:0022394 cervical intraepithelial neoplasia MONDO:0024474 NCIT:C3782 NCIT:C8366 intraepithelial neoplasia -MONDO:0023528 KSHV inflammatory cytokine syndrome MONDO:0021166 NCIT:C125711 NCIT:C93210 inflammatory disease -MONDO:0024237 inherited neurodegenerative disorder MONDO:0002320 NCIT:C97073 NCIT:C97172 congenital nervous system disorder -MONDO:0024275 amebic dysentery MONDO:0006039 NCIT:C34558 NCIT:C78359 infectious colitis -MONDO:0024287 congenital vascular malformation MONDO:0024239 NCIT:C112117 NCIT:C35729 congenital anomaly of cardiovascular system MONDO:0024296 vascular neoplasm MONDO:0005385 NCIT:C7388 NCIT:C35117 vascular disorder MONDO:0024341 retinal cell neoplasm MONDO:0021193 NCIT:C7061 NCIT:C3787 neuroepithelial neoplasm MONDO:0024470 benign chondrogenic neoplasm MONDO:0000654 NCIT:C8592 NCIT:C53684 benign connective and soft tissue neoplasm MONDO:0024477 liver and intrahepatic bile duct neoplasm MONDO:0024477 NCIT:C7106 NCIT:C7103 liver and intrahepatic bile duct neoplasm -MONDO:0024537 Brown-Vialetto-van Laere syndrome 1 MONDO:0002254 NCIT:C133724 NCIT:C28193 syndromic disease -MONDO:0024537 Brown-Vialetto-van Laere syndrome 1 MONDO:0008890 NCIT:C133724 NCIT:C85026 progressive bulbar palsy -MONDO:0024575 pregnancy disorder MONDO:0002263 NCIT:C35169 NCIT:C27020 female reproductive system disorder MONDO:0024660 tubular adenoma MONDO:0006180 NCIT:C4133 NCIT:C36207 digestive system adenoma MONDO:0024661 tubulovillous adenoma MONDO:0006180 NCIT:C4143 NCIT:C36207 digestive system adenoma MONDO:0024861 mixed teratoma and seminoma MONDO:0005853 NCIT:C9010 NCIT:C3729 malignant mixed neoplasm MONDO:0024886 serous adenofibroma MONDO:0037256 NCIT:C67090 NCIT:C7074 serous neoplasm -MONDO:0025419 furunculosis MONDO:0021201 NCIT:C34629 NCIT:C35025 skin infection -MONDO:0032572 cardiac, facial, and digital anomalies with developmental delay MONDO:0002254 NCIT:C179868 NCIT:C28193 syndromic disease -MONDO:0032666 epidermodysplasia verruciformis, susceptibility to, 4 MONDO:0021094 NCIT:C176608 NCIT:C3131 immunodeficiency disease MONDO:0035605 B-lymphoblastic leukemia/lymphoma with recurrent genetic abnormality MONDO:0004947 NCIT:C80328 NCIT:C8936 B-cell acute lymphoblastic leukemia -MONDO:0035738 acquired factor VII deficiency MONDO:0009211 NCIT:C131625 NCIT:C131631 congenital factor VII deficiency -MONDO:0037871 amino acid metabolism disease MONDO:0019052 NCIT:C97090 NCIT:C34816 inborn errors of metabolism MONDO:0040678 infiltrating urothelial carcinoma MONDO:0040679 NCIT:C39853 NCIT:C4030 urothelial carcinoma MONDO:0041447 metastatic malignant neoplasm in the colon MONDO:0021063 NCIT:C8411 NCIT:C9242 malignant colon neoplasm -MONDO:0042983 neurocutaneous syndrome MONDO:0015356 NCIT:C84348 NCIT:C3266 hereditary neoplastic syndrome -MONDO:0043287 superior vena cava syndrome MONDO:0045054 NCIT:C3396 NCIT:C8278 cancer-related condition -MONDO:0043472 ectopic ACTH secretion syndrome MONDO:0045072 NCIT:C4387 NCIT:C4065 ectopic hormone secretion syndrome associated with neoplasia -MONDO:0043683 Leriche syndrome MONDO:0020673 NCIT:C34773 NCIT:C35318 arterial occlusion -MONDO:0043839 ulcer disease MONDO:0021178 NCIT:C3426 NCIT:C3671 injury -MONDO:0043875 tumor lysis syndrome MONDO:0045054 NCIT:C3425 NCIT:C8278 cancer-related condition -MONDO:0044092 collagenous sprue MONDO:0005130 NCIT:C45426 NCIT:C26714 celiac disease MONDO:0044705 paranasal sinus squamous cell carcinoma MONDO:0044787 NCIT:C8193 NCIT:C68611 nasal cavity and paranasal sinus squamous cell carcinoma -MONDO:0044719 erythema multiforme major MONDO:0006545 NCIT:C3385 NCIT:C3024 erythema multiforme MONDO:0044792 large congenital melanocytic nevus MONDO:0044792 NCIT:C4234 NCIT:C3944 large congenital melanocytic nevus -MONDO:0044792 large congenital melanocytic nevus MONDO:0044794 NCIT:C3944 NCIT:C7571 benign melanocytic skin nevus MONDO:0044873 childhood myelodysplastic syndrome MONDO:0006517 NCIT:C68744 NCIT:C4005 childhood malignant neoplasm MONDO:0045070 digestive system melanoma MONDO:0000544 NCIT:C7091 NCIT:C114828 mucosal melanoma MONDO:0056813 hormone-resistant breast carcinoma MONDO:0004988 NCIT:C114932 NCIT:C5214 breast adenocarcinoma -MONDO:0100081 sleep disorder MONDO:0002025 NCIT:C3376 NCIT:C2893 psychiatric disorder -MONDO:0100135 Dravet syndrome MONDO:0002254 NCIT:C116573 NCIT:C28193 syndromic disease -MONDO:0100137 telomere syndrome MONDO:0002254 NCIT:C152065 NCIT:C28193 syndromic disease -MONDO:0100163 COVID-19–associated multisystem inflammatory syndrome in children MONDO:0002254 NCIT:C172127 NCIT:C28193 syndromic disease -MONDO:0100253 Roberts-SC phocomelia syndrome MONDO:0015356 NCIT:C4681 NCIT:C3266 hereditary neoplastic syndrome -MONDO:0100347 carcinoid syndrome MONDO:0045072 NCIT:C3215 NCIT:C4065 ectopic hormone secretion syndrome associated with neoplasia -MONDO:0100377 acute myeloid leukemia, t(10;11)(p12;q23) MONDO:0004996 NCIT:C132101 NCIT:C9160 childhood acute myeloid leukemia -MONDO:0100377 acute myeloid leukemia, t(10;11)(p12;q23) MONDO:0100404 NCIT:C132101 NCIT:C174129 acute myeloid leukemia, MLL gene rearrangement -MONDO:0100381 acute myeloid leukemia, t(6;11)(q27;q23) MONDO:0004996 NCIT:C132105 NCIT:C9160 childhood acute myeloid leukemia -MONDO:0100381 acute myeloid leukemia, t(6;11)(q27;q23) MONDO:0100404 NCIT:C132105 NCIT:C174129 acute myeloid leukemia, MLL gene rearrangement MONDO:0100396 acute myeloid leukemia, t(7;12)(q36;p13) MONDO:0004996 NCIT:C122690 NCIT:C9160 childhood acute myeloid leukemia -MONDO:0600008 cytokine release syndrome MONDO:0002254 NCIT:C78251 NCIT:C28193 syndromic disease -MONDO:0600030 B-cell acute lymphoblastic leukemia with t(1;19)(q23;p13.3); E2A-PBX1 (TCF3-PBX1) MONDO:0020511 NCIT:C80347 NCIT:C8644 precursor B-cell acute lymphoblastic leukemia +MONDO:0100534 SMARCB1-deficient kidney medullary carcinoma MONDO:0006260 NCIT:C189247 NCIT:C7572 kidney medullary carcinoma MONDO:0700219 neoplastic meningitis MONDO:0003762 NCIT:C3814 NCIT:C8506 malignant leptomeningeal tumor -MONDO:0800445 Birt-Hogg-Dube syndrome 1 MONDO:0015356 NCIT:C28244 NCIT:C3266 hereditary neoplastic syndrome -MONDO:0800486 metabolic bone disorder MONDO:0005066 NCIT:C97045 NCIT:C3235 metabolic disease diff --git a/src/ontology/reports/ncit.subclass.confirmed.robot.tsv b/src/ontology/reports/ncit.subclass.confirmed.robot.tsv index 2e2a341c..f529fddd 100644 --- a/src/ontology/reports/ncit.subclass.confirmed.robot.tsv +++ b/src/ontology/reports/ncit.subclass.confirmed.robot.tsv @@ -1,13 +1,6 @@ subject_mondo_id subject_mondo_label object_mondo_id subject_source_id object_source_id object_mondo_label ID SC % >A oboInOwl:source -MONDO:0000022 nocturnal enuresis MONDO:0024290 NCIT:C118172 NCIT:C34588 enuresis -MONDO:0000087 polymicrogyria MONDO:0002320 NCIT:C116936 NCIT:C97172 congenital nervous system disorder MONDO:0000147 polyposis MONDO:0021075 NCIT:C4089 NCIT:C7068 neoplastic polyp -MONDO:0000190 ventricular fibrillation MONDO:0007263 NCIT:C50799 NCIT:C2881 cardiac rhythm disease -MONDO:0000327 Buruli ulcer disease MONDO:0020590 NCIT:C84604 NCIT:C26831 mycobacterial infectious disease -MONDO:0000334 multinodular goiter MONDO:0006869 NCIT:C131438 NCIT:C131437 nodular goiter -MONDO:0000359 spondylocostal dysostosis MONDO:0018234 NCIT:C125598 NCIT:C34560 dysostosis -MONDO:0000365 primary congenital glaucoma MONDO:0020366 NCIT:C150251 NCIT:C50648 congenital glaucoma MONDO:0000371 oral cavity carcinoma in situ MONDO:0044925 NCIT:C4587 NCIT:C8990 oral cavity carcinoma MONDO:0000372 pharynx carcinoma in situ MONDO:0004647 NCIT:C4942 NCIT:C2917 in situ carcinoma MONDO:0000372 pharynx carcinoma in situ MONDO:0021345 NCIT:C4942 NCIT:C9466 carcinoma of pharynx @@ -16,27 +9,15 @@ MONDO:0000378 malignant Sertoli cell tumor MONDO:0002696 NCIT:C67006 NCIT:C39976 MONDO:0000380 paranasal sinus carcinoma MONDO:0020669 NCIT:C6014 NCIT:C7487 paranasal sinus cancer MONDO:0000380 paranasal sinus carcinoma MONDO:0056819 NCIT:C6014 NCIT:C54293 nasal cavity and paranasal sinus carcinoma MONDO:0000383 benign reproductive system neoplasm MONDO:0006054 NCIT:C7617 NCIT:C3674 reproductive system neoplasm -MONDO:0000384 bladder benign neoplasm MONDO:0004180 NCIT:C3618 NCIT:C4893 benign urinary system neoplasm MONDO:0000384 bladder benign neoplasm MONDO:0004987 NCIT:C3618 NCIT:C2901 urinary bladder neoplasm MONDO:0000385 benign digestive system neoplasm MONDO:0005165 NCIT:C4787 NCIT:C3677 benign neoplasm MONDO:0000385 benign digestive system neoplasm MONDO:0021223 NCIT:C4787 NCIT:C3052 digestive system neoplasm MONDO:0000386 digestive system neuroendocrine tumor, grade 1/2 MONDO:0024503 NCIT:C95404 NCIT:C27721 digestive system neuroendocrine neoplasm -MONDO:0000390 vitelliform macular dystrophy MONDO:0020242 NCIT:C118788 NCIT:C140264 hereditary macular dystrophy -MONDO:0000396 spastic cerebral palsy MONDO:0006497 NCIT:C116903 NCIT:C34460 cerebral palsy -MONDO:0000397 ataxic cerebral palsy MONDO:0006497 NCIT:C97168 NCIT:C34460 cerebral palsy -MONDO:0000400 mixed cerebral palsy MONDO:0006497 NCIT:C97177 NCIT:C34460 cerebral palsy MONDO:0000402 small cell carcinoma MONDO:0002120 NCIT:C3915 NCIT:C3773 neuroendocrine carcinoma -MONDO:0000410 funisitis MONDO:0024575 NCIT:C97077 NCIT:C35169 pregnancy disorder -MONDO:0000425 X-linked disease MONDO:0003847 NCIT:C85865 NCIT:C3101 hereditary disease MONDO:0000430 mature T-cell and NK-cell non-Hodgkin lymphoma MONDO:0005169 NCIT:C3468 NCIT:C27909 neoplasm of mature T-cells or NK-cells MONDO:0000430 mature T-cell and NK-cell non-Hodgkin lymphoma MONDO:0015760 NCIT:C3468 NCIT:C3466 T-cell non-Hodgkin lymphoma MONDO:0000448 paraganglioma MONDO:0002366 NCIT:C3308 NCIT:C5112 autonomic nervous system neoplasm MONDO:0000448 paraganglioma MONDO:0019496 NCIT:C3308 NCIT:C3809 neuroendocrine neoplasm -MONDO:0000466 first-degree atrioventricular block MONDO:0007263 NCIT:C62015 NCIT:C2881 cardiac rhythm disease -MONDO:0000467 second-degree atrioventricular block MONDO:0007263 NCIT:C111119 NCIT:C2881 cardiac rhythm disease -MONDO:0000468 third-degree atrioventricular block MONDO:0007263 NCIT:C50501 NCIT:C2881 cardiac rhythm disease -MONDO:0000471 tricuspid valve disorder MONDO:0002869 NCIT:C78649 NCIT:C45525 heart valve disorder -MONDO:0000496 hemorrhagic cystitis MONDO:0006032 NCIT:C114666 NCIT:C26738 cystitis MONDO:0000500 tongue squamous cell carcinoma MONDO:0004958 NCIT:C4648 NCIT:C4833 oral cavity squamous cell carcinoma MONDO:0000503 lung adenocarcinoma in situ MONDO:0003218 NCIT:C136486 NCIT:C4123 adenocarcinoma in situ MONDO:0000503 lung adenocarcinoma in situ MONDO:0005061 NCIT:C136486 NCIT:C3512 lung adenocarcinoma @@ -54,12 +35,6 @@ MONDO:0000548 ovarian clear cell cancer MONDO:0018364 NCIT:C40077 NCIT:C40026 ma MONDO:0000548 ovarian clear cell cancer MONDO:0021144 NCIT:C40077 NCIT:C40076 ovarian clear cell tumor MONDO:0000550 extra-adrenal sympathetic paraganglioma MONDO:0021072 NCIT:C48576 NCIT:C4216 sympathetic paraganglioma MONDO:0000552 breast lobular carcinoma MONDO:0004988 NCIT:C3771 NCIT:C5214 breast adenocarcinoma -MONDO:0000565 infective endocarditis MONDO:0005025 NCIT:C78265 NCIT:C34582 endocarditis -MONDO:0000577 congenital anemia MONDO:0002280 NCIT:C35228 NCIT:C2869 anemia -MONDO:0000577 congenital anemia MONDO:0009332 NCIT:C35228 NCIT:C104003 congenital hematological disorder -MONDO:0000595 sexual and gender identity disorders MONDO:0002025 NCIT:C92202 NCIT:C2893 psychiatric disorder -MONDO:0000605 hypersensitivity reaction disease MONDO:0005046 NCIT:C3114 NCIT:C3507 immune system disorder -MONDO:0000607 primary cutaneous T-cell non-Hodgkin lymphoma MONDO:0018898 NCIT:C3467 NCIT:C7162 primary cutaneous lymphoma MONDO:0000620 breast benign neoplasm MONDO:0021100 NCIT:C4505 NCIT:C2910 breast neoplasm MONDO:0000624 benign female reproductive system neoplasm MONDO:0000383 NCIT:C4934 NCIT:C7617 benign reproductive system neoplasm MONDO:0000624 benign female reproductive system neoplasm MONDO:0021148 NCIT:C4934 NCIT:C3053 female reproductive system neoplasm @@ -84,20 +59,8 @@ MONDO:0000648 nervous system benign neoplasm MONDO:0005165 NCIT:C4789 NCIT:C3677 MONDO:0000648 nervous system benign neoplasm MONDO:0021248 NCIT:C4789 NCIT:C3268 nervous system neoplasm MONDO:0000650 peritoneal benign neoplasm MONDO:0006901 NCIT:C8612 NCIT:C3322 peritoneal neoplasm MONDO:0000654 benign connective and soft tissue neoplasm MONDO:0044334 NCIT:C53684 NCIT:C3810 connective and soft tissue neoplasm -MONDO:0000702 microscopic colitis MONDO:0005292 NCIT:C38504 NCIT:C26723 colitis -MONDO:0000703 collagenous colitis MONDO:0000702 NCIT:C27021 NCIT:C38504 microscopic colitis -MONDO:0000704 lymphocytic colitis MONDO:0000702 NCIT:C27147 NCIT:C38504 microscopic colitis -MONDO:0000723 stutter disorder MONDO:0004750 NCIT:C35043 NCIT:C97155 language disorder -MONDO:0000741 angular cheilitis MONDO:0002102 NCIT:C112198 NCIT:C79545 cheilitis -MONDO:0000744 lung abscess MONDO:0005227 NCIT:C99090 NCIT:C26686 abscess -MONDO:0000748 mastoiditis MONDO:0021166 NCIT:C128368 NCIT:C93210 inflammatory disease -MONDO:0000751 cervical polyp MONDO:0002256 NCIT:C2939 NCIT:C40241 cervix disorder -MONDO:0000751 cervical polyp MONDO:0004701 NCIT:C2939 NCIT:C3662 uterine polyp MONDO:0000814 B-cell adult acute lymphocytic leukemia MONDO:0003541 NCIT:C9143 NCIT:C4967 adult acute lymphoblastic leukemia MONDO:0000814 B-cell adult acute lymphocytic leukemia MONDO:0020511 NCIT:C9143 NCIT:C8644 precursor B-cell acute lymphoblastic leukemia -MONDO:0000816 abdominal obesity-metabolic syndrome MONDO:0002254 NCIT:C84442 NCIT:C28193 syndromic disease -MONDO:0000859 spina bifida occulta MONDO:0008449 NCIT:C101044 NCIT:C101214 spina bifida -MONDO:0000870 childhood acute lymphoblastic leukemia MONDO:0004355 NCIT:C3168 NCIT:C4989 childhood leukemia MONDO:0000870 childhood acute lymphoblastic leukemia MONDO:0004967 NCIT:C3168 NCIT:C3167 acute lymphoblastic leukemia MONDO:0000871 T-cell childhood acute lymphocytic leukemia MONDO:0000870 NCIT:C7953 NCIT:C3168 childhood acute lymphoblastic leukemia MONDO:0000871 T-cell childhood acute lymphocytic leukemia MONDO:0004403 NCIT:C7953 NCIT:C5640 childhood precursor T-lymphoblastic lymphoma/leukemia @@ -108,28 +71,20 @@ MONDO:0000873 lymphoblastic lymphoma MONDO:0003538 NCIT:C9360 NCIT:C7055 precurs MONDO:0000873 lymphoblastic lymphoma MONDO:0018908 NCIT:C9360 NCIT:C3211 non-Hodgkin lymphoma MONDO:0000874 T-cell childhood lymphoblastic lymphoma MONDO:0004403 NCIT:C7210 NCIT:C5640 childhood precursor T-lymphoblastic lymphoma/leukemia MONDO:0000875 adult acute monocytic leukemia MONDO:0007896 NCIT:C8263 NCIT:C4861 acute monocytic leukemia -MONDO:0000878 cytomegalovirus retinitis MONDO:0002708 NCIT:C50521 NCIT:C115993 retinitis -MONDO:0000878 cytomegalovirus retinitis MONDO:0005132 NCIT:C50521 NCIT:C53649 cytomegalovirus infection -MONDO:0000888 gastrointestinal mucositis MONDO:0020579 NCIT:C3853 NCIT:C115965 mucositis MONDO:0000892 colon medullary carcinoma MONDO:0002271 NCIT:C60641 NCIT:C4349 colon adenocarcinoma MONDO:0000892 colon medullary carcinoma MONDO:0020794 NCIT:C60641 NCIT:C43590 colorectal medullary carcinoma MONDO:0000893 mixed mucinous and nonmucinous bronchioloalveolar adenocarcinoma MONDO:0004991 NCIT:C7270 NCIT:C2923 minimally invasive lung adenocarcinoma -MONDO:0000918 endometritis MONDO:0000931 NCIT:C26764 NCIT:C3504 endometrial disorder MONDO:0000919 ampulla of vater cancer MONDO:0000921 NCIT:C3536 NCIT:C4443 ampulla of vater neoplasm MONDO:0000920 duodenum cancer MONDO:0000956 NCIT:C9328 NCIT:C7523 small intestine cancer MONDO:0000920 duodenum cancer MONDO:0021375 NCIT:C9328 NCIT:C2995 tumor of duodenum -MONDO:0000923 interstitial emphysema MONDO:0004849 NCIT:C34571 NCIT:C3348 pulmonary emphysema MONDO:0000928 eyelid melanoma MONDO:0006325 NCIT:C4358 NCIT:C8562 ocular melanoma MONDO:0000928 eyelid melanoma MONDO:0021313 NCIT:C4358 NCIT:C6786 eyelid cancer MONDO:0000929 balloon cell malignant melanoma MONDO:0005012 NCIT:C4227 NCIT:C3510 cutaneous melanoma MONDO:0000930 nodular malignant melanoma MONDO:0005012 NCIT:C4225 NCIT:C3510 cutaneous melanoma -MONDO:0000931 endometrial disorder MONDO:0002654 NCIT:C3504 NCIT:C26907 uterine disorder MONDO:0000933 subglottis neoplasm MONDO:0021071 NCIT:C4426 NCIT:C3156 laryngeal neoplasm MONDO:0000934 laryngeal leiomyoma MONDO:0001572 NCIT:C6027 NCIT:C3157 leiomyoma MONDO:0000935 larynx squamous papilloma MONDO:0001825 NCIT:C7742 NCIT:C3712 squamous papilloma MONDO:0000935 larynx squamous papilloma MONDO:0002354 NCIT:C7742 NCIT:C3601 benign laryngeal neoplasm -MONDO:0000939 intracranial abscess MONDO:0005227 NCIT:C34734 NCIT:C26686 abscess -MONDO:0000942 corneal disorder MONDO:0005328 NCIT:C26731 NCIT:C26767 eye disorder MONDO:0000951 thymus lymphoma MONDO:0002586 NCIT:C6451 NCIT:C4962 thymus cancer MONDO:0000951 thymus lymphoma MONDO:0004021 NCIT:C6451 NCIT:C6633 mediastinal malignant lymphoma MONDO:0000956 small intestine cancer MONDO:0004251 NCIT:C7523 NCIT:C4432 small intestine neoplasm @@ -153,42 +108,22 @@ MONDO:0000974 axillary lipoma MONDO:0036781 NCIT:C35419 NCIT:C35750 benign axill MONDO:0000975 lipoma of spermatic cord MONDO:0000976 NCIT:C3606 NCIT:C6384 paratesticular lipoma MONDO:0000976 paratesticular lipoma MONDO:0005106 NCIT:C6384 NCIT:C3192 lipoma MONDO:0000977 chondroid lipoma MONDO:0005106 NCIT:C6503 NCIT:C3192 lipoma -MONDO:0000979 pinta disease MONDO:0007000 NCIT:C85011 NCIT:C85197 Treponema infectious disease -MONDO:0000984 thalassemia MONDO:0019050 NCIT:C35069 NCIT:C3092 inherited hemoglobinopathy -MONDO:0000986 pleurisy MONDO:0002037 NCIT:C26860 NCIT:C26859 pleural disorder MONDO:0000993 prostate squamous cell carcinoma MONDO:0005096 NCIT:C5536 NCIT:C2929 squamous cell carcinoma MONDO:0000994 malignant prostate phyllodes tumor MONDO:0008315 NCIT:C5531 NCIT:C7378 prostate cancer MONDO:0000994 malignant prostate phyllodes tumor MONDO:0021102 NCIT:C5531 NCIT:C7574 prostate phyllodes tumor MONDO:0000994 malignant prostate phyllodes tumor MONDO:0037003 NCIT:C5531 NCIT:C4275 malignant phyllodes tumor MONDO:0000996 prostate lymphoma MONDO:0008315 NCIT:C5533 NCIT:C7378 prostate cancer -MONDO:0001000 mixed mineral dust pneumoconiosis MONDO:0015926 NCIT:C27559 NCIT:C26861 pneumoconiosis -MONDO:0001001 baritosis MONDO:0015926 NCIT:C34410 NCIT:C26861 pneumoconiosis -MONDO:0001003 pneumoconiosis due to talc MONDO:0015926 NCIT:C27026 NCIT:C26861 pneumoconiosis -MONDO:0001004 slate pneumoconiosis MONDO:0015926 NCIT:C35397 NCIT:C26861 pneumoconiosis MONDO:0001014 chronic leukemia MONDO:0005059 NCIT:C3483 NCIT:C3161 leukemia MONDO:0001016 epididymis cancer MONDO:0003283 NCIT:C3558 NCIT:C39958 epididymal neoplasm -MONDO:0001016 epididymis cancer MONDO:0005836 NCIT:C3558 NCIT:C8561 male reproductive organ cancer -MONDO:0001017 epididymal adenocarcinoma MONDO:0001016 NCIT:C39957 NCIT:C3558 epididymis cancer MONDO:0001017 epididymal adenocarcinoma MONDO:0004970 NCIT:C39957 NCIT:C2852 adenocarcinoma MONDO:0001023 prolymphocytic leukemia MONDO:0001014 NCIT:C3181 NCIT:C3483 chronic leukemia -MONDO:0001028 acute pericementitis MONDO:0005076 NCIT:C34354 NCIT:C34918 periodontitis MONDO:0001056 gastric cancer MONDO:0002516 NCIT:C9331 NCIT:C4890 digestive system cancer MONDO:0001056 gastric cancer MONDO:0021085 NCIT:C9331 NCIT:C3387 gastric neoplasm MONDO:0001057 malignant gastric granular cell tumor MONDO:0001056 NCIT:C5484 NCIT:C9331 gastric cancer MONDO:0001057 malignant gastric granular cell tumor MONDO:0003252 NCIT:C5484 NCIT:C4336 granular cell cancer MONDO:0001059 gastric lymphoma MONDO:0001056 NCIT:C4636 NCIT:C9331 gastric cancer MONDO:0001059 gastric lymphoma MONDO:0004699 NCIT:C4636 NCIT:C38162 gastrointestinal lymphoma -MONDO:0001066 late yaws MONDO:0006019 NCIT:C41354 NCIT:C41353 yaws -MONDO:0001067 early yaws MONDO:0006019 NCIT:C41352 NCIT:C41353 yaws -MONDO:0001068 osteomalacia MONDO:0800486 NCIT:C26838 NCIT:C97045 metabolic bone disorder -MONDO:0001074 chronic tic disorder MONDO:0005395 NCIT:C116768 NCIT:C116757 movement disorder -MONDO:0001076 glucose intolerance MONDO:0002908 NCIT:C34646 NCIT:C53655 glucose metabolism disease -MONDO:0001078 tropical sprue MONDO:0020598 NCIT:C45428 NCIT:C3214 malabsorption syndrome -MONDO:0001081 acute cervicitis MONDO:0002345 NCIT:C27056 NCIT:C26716 cervicitis MONDO:0001082 lymph node cancer MONDO:0024339 NCIT:C35812 NCIT:C35497 lymph node neoplasm -MONDO:0001083 Fanconi renotubular syndrome MONDO:0002254 NCIT:C3034 NCIT:C28193 syndromic disease -MONDO:0001085 interstitial nephritis MONDO:0001166 NCIT:C26834 NCIT:C26833 nephritis -MONDO:0001087 schizotypal personality disorder MONDO:0002028 NCIT:C92632 NCIT:C34922 personality disorder MONDO:0001091 lipoma of colon MONDO:0002278 NCIT:C5493 NCIT:C2894 benign colon neoplasm MONDO:0001091 lipoma of colon MONDO:0003885 NCIT:C5493 NCIT:C5678 colorectal lipoma MONDO:0001092 colon leiomyoma MONDO:0002278 NCIT:C5492 NCIT:C2894 benign colon neoplasm @@ -197,102 +132,36 @@ MONDO:0001093 colonic lymphangioma MONDO:0002278 NCIT:C5500 NCIT:C2894 benign co MONDO:0001095 mediastinum neuroblastoma MONDO:0003098 NCIT:C6628 NCIT:C6624 mediastinal neural neoplasm MONDO:0001095 mediastinum neuroblastoma MONDO:0005843 NCIT:C6628 NCIT:C3549 mediastinal cancer MONDO:0001096 mediastinum ganglioneuroblastoma MONDO:0003327 NCIT:C6627 NCIT:C6594 peripheral ganglioneuroblastoma -MONDO:0001110 chronic pyelonephritis MONDO:0006939 NCIT:C123216 NCIT:C34965 pyelonephritis -MONDO:0001114 bacterial myocarditis MONDO:0004496 NCIT:C128380 NCIT:C34831 myocarditis -MONDO:0001116 mesenteric lymphadenitis MONDO:0002052 NCIT:C26830 NCIT:C26821 lymphadenitis -MONDO:0001119 premature menopause MONDO:0001889 NCIT:C80099 NCIT:C113351 ovarian dysfunction -MONDO:0001120 chronic frontal sinusitis MONDO:0001121 NCIT:C34473 NCIT:C34626 frontal sinusitis -MONDO:0001120 chronic frontal sinusitis MONDO:0006031 NCIT:C34473 NCIT:C35151 chronic rhinosinusitis -MONDO:0001121 frontal sinusitis MONDO:0005961 NCIT:C34626 NCIT:C35024 sinusitis -MONDO:0001122 chronic maxillary sinusitis MONDO:0005842 NCIT:C34477 NCIT:C34809 maxillary sinusitis -MONDO:0001122 chronic maxillary sinusitis MONDO:0006031 NCIT:C34477 NCIT:C35151 chronic rhinosinusitis -MONDO:0001123 chronic sphenoidal sinusitis MONDO:0005964 NCIT:C34480 NCIT:C35031 sphenoid sinusitis -MONDO:0001123 chronic sphenoidal sinusitis MONDO:0006031 NCIT:C34480 NCIT:C35151 chronic rhinosinusitis -MONDO:0001126 gastric ulcer MONDO:0004247 NCIT:C3388 NCIT:C3318 peptic ulcer disease MONDO:0001128 nasal cavity cancer MONDO:0004756 NCIT:C4918 NCIT:C4413 nasal cavity neoplasm MONDO:0001129 nasal cavity olfactory neuroblastoma MONDO:0001128 NCIT:C7604 NCIT:C4918 nasal cavity cancer MONDO:0001129 nasal cavity olfactory neuroblastoma MONDO:0006329 NCIT:C7604 NCIT:C3789 olfactory neuroblastoma MONDO:0001130 nasal cavity lymphoma MONDO:0001128 NCIT:C6074 NCIT:C4918 nasal cavity cancer -MONDO:0001132 sexual sadism disorder MONDO:0000595 NCIT:C94358 NCIT:C92202 sexual and gender identity disorders -MONDO:0001139 sexual masochism disorder MONDO:0000595 NCIT:C94356 NCIT:C92202 sexual and gender identity disorders -MONDO:0001147 meningocele MONDO:0002320 NCIT:C105595 NCIT:C97172 congenital nervous system disorder -MONDO:0001156 borderline personality disorder MONDO:0002028 NCIT:C92633 NCIT:C34922 personality disorder -MONDO:0001157 dependent personality disorder MONDO:0002028 NCIT:C92637 NCIT:C34922 personality disorder -MONDO:0001158 obsessive-compulsive personality disorder MONDO:0002028 NCIT:C92638 NCIT:C34922 personality disorder -MONDO:0001159 multiple personality disorder MONDO:0001160 NCIT:C94330 NCIT:C92197 dissociative disorder -MONDO:0001160 dissociative disorder MONDO:0002025 NCIT:C92197 NCIT:C2893 psychiatric disorder -MONDO:0001161 schizoid personality disorder MONDO:0002028 NCIT:C92631 NCIT:C34922 personality disorder -MONDO:0001162 impulse control disorder MONDO:0002025 NCIT:C34723 NCIT:C2893 psychiatric disorder -MONDO:0001163 paranoid personality disorder MONDO:0002028 NCIT:C92630 NCIT:C34922 personality disorder -MONDO:0001164 antisocial personality disorder MONDO:0002028 NCIT:C88413 NCIT:C34922 personality disorder -MONDO:0001173 acute salpingitis MONDO:0003619 NCIT:C40120 NCIT:C26880 salpingitis -MONDO:0001174 conjunctival vascular disorder MONDO:0005552 NCIT:C35116 NCIT:C35664 ocular vascular disorder -MONDO:0001176 lens disorder MONDO:0005328 NCIT:C26812 NCIT:C26767 eye disorder -MONDO:0001180 bullous keratopathy MONDO:0002261 NCIT:C26970 NCIT:C27012 keratopathy -MONDO:0001185 dissociative amnesia MONDO:0001160 NCIT:C94328 NCIT:C92197 dissociative disorder -MONDO:0001186 depersonalization disorder MONDO:0001160 NCIT:C94331 NCIT:C92197 dissociative disorder MONDO:0001187 urinary bladder cancer MONDO:0004987 NCIT:C9334 NCIT:C2901 urinary bladder neoplasm -MONDO:0001187 urinary bladder cancer MONDO:0006295 NCIT:C9334 NCIT:C9297 malignant urinary system neoplasm MONDO:0001188 esophagus lymphoma MONDO:0004699 NCIT:C5687 NCIT:C38162 gastrointestinal lymphoma MONDO:0001188 esophagus lymphoma MONDO:0007576 NCIT:C5687 NCIT:C7478 esophageal cancer MONDO:0001192 esophageal melanoma MONDO:0007576 NCIT:C5707 NCIT:C7478 esophageal cancer MONDO:0001192 esophageal melanoma MONDO:0045070 NCIT:C5707 NCIT:C7091 digestive system melanoma MONDO:0001204 esophagus sarcoma MONDO:0007576 NCIT:C5341 NCIT:C7478 esophageal cancer -MONDO:0001208 acute respiratory failure MONDO:0021113 NCIT:C27043 NCIT:C26872 respiratory failure MONDO:0001209 common wart MONDO:0024666 NCIT:C27087 NCIT:C7341 benign epithelial skin neoplasm -MONDO:0001214 acute conjunctivitis MONDO:0003799 NCIT:C35195 NCIT:C34504 conjunctivitis -MONDO:0001217 pseudomembranous conjunctivitis MONDO:0006668 NCIT:C35196 NCIT:C53656 bacterial conjunctivitis -MONDO:0001222 congenital T-cell immunodeficiency MONDO:0003780 NCIT:C27872 NCIT:C27145 T-cell immunodeficiency -MONDO:0001224 Angelucci syndrome MONDO:0001214 NCIT:C34353 NCIT:C35195 acute conjunctivitis -MONDO:0001224 Angelucci syndrome MONDO:0005642 NCIT:C34353 NCIT:C34506 atopic conjunctivitis -MONDO:0001226 acute contagious conjunctivitis MONDO:0001214 NCIT:C35704 NCIT:C35195 acute conjunctivitis MONDO:0001235 appendix cancer MONDO:0001236 NCIT:C9333 NCIT:C4434 appendiceal neoplasm MONDO:0001237 appendix lymphoma MONDO:0001235 NCIT:C5513 NCIT:C9333 appendix cancer -MONDO:0001242 disseminated intravascular coagulation in newborn MONDO:0001243 NCIT:C111856 NCIT:C2992 disseminated intravascular coagulation -MONDO:0001244 vitamin K deficiency hemorrhagic disease MONDO:0024298 NCIT:C99108 NCIT:C35772 vitamin deficiency disorder -MONDO:0001245 microcytic anemia MONDO:0002280 NCIT:C35141 NCIT:C2869 anemia -MONDO:0001247 social phobia MONDO:0003699 NCIT:C34927 NCIT:C35420 phobic disorder -MONDO:0001252 Plummer disease MONDO:0004425 NCIT:C35171 NCIT:C3123 hyperthyroidism -MONDO:0001261 Mobitz type II atrioventricular block MONDO:0000467 NCIT:C62018 NCIT:C111119 second-degree atrioventricular block -MONDO:0001269 scleral disorder MONDO:0005328 NCIT:C79717 NCIT:C26767 eye disorder -MONDO:0001271 lens subluxation MONDO:0001176 NCIT:C34772 NCIT:C26812 lens disorder MONDO:0001275 spinal meningioma MONDO:0001279 NCIT:C6935 NCIT:C5134 intraspinal meningioma MONDO:0001275 spinal meningioma MONDO:0021234 NCIT:C6935 NCIT:C3381 spinal cord neoplasm -MONDO:0001276 expressive language disorder MONDO:0004750 NCIT:C92562 NCIT:C97155 language disorder -MONDO:0001282 fallopian tube endometriosis MONDO:0005133 NCIT:C26763 NCIT:C3014 endometriosis -MONDO:0001286 exotropia MONDO:0003432 NCIT:C34601 NCIT:C35040 strabismus -MONDO:0001288 endometriosis of rectovaginal septum and vagina MONDO:0005133 NCIT:C128064 NCIT:C3014 endometriosis -MONDO:0001290 allergic cutaneous vasculitis MONDO:0020576 NCIT:C35119 NCIT:C112210 cutaneous vasculitis MONDO:0001293 subglottis cancer MONDO:0000933 NCIT:C3546 NCIT:C4426 subglottis neoplasm MONDO:0001293 subglottis cancer MONDO:0002352 NCIT:C3546 NCIT:C7484 larynx cancer -MONDO:0001298 congenital mitral valve insufficiency MONDO:0003767 NCIT:C50888 NCIT:C78446 mitral valve disorder -MONDO:0001299 diabetic autonomic neuropathy MONDO:0001300 NCIT:C27068 NCIT:C27033 autonomic neuropathy -MONDO:0001299 diabetic autonomic neuropathy MONDO:0006626 NCIT:C27068 NCIT:C26748 diabetic neuropathy -MONDO:0001300 autonomic neuropathy MONDO:0005244 NCIT:C27033 NCIT:C4731 peripheral neuropathy -MONDO:0001307 corneal abscess MONDO:0005227 NCIT:C26969 NCIT:C26686 abscess -MONDO:0001307 corneal abscess MONDO:0023865 NCIT:C26969 NCIT:C83813 corneal infection MONDO:0001309 oculomotor nerve paralysis MONDO:0002782 NCIT:C27597 NCIT:C26941 cranial nerve palsy MONDO:0001309 oculomotor nerve paralysis MONDO:0003546 NCIT:C27597 NCIT:C27598 third cranial nerve disorder -MONDO:0001314 chondrocalcinosis MONDO:0005578 NCIT:C34955 NCIT:C2883 arthritic joint disease -MONDO:0001314 chondrocalcinosis MONDO:0800486 NCIT:C34955 NCIT:C97045 metabolic bone disorder MONDO:0001322 pericardium cancer MONDO:0021381 NCIT:C4567 NCIT:C4651 neoplasm of pericardium MONDO:0001325 penile cancer MONDO:0005836 NCIT:C7547 NCIT:C8561 male reproductive organ cancer MONDO:0001325 penile cancer MONDO:0006895 NCIT:C7547 NCIT:C3317 penile neoplasm MONDO:0001340 heart cancer MONDO:0002100 NCIT:C3548 NCIT:C114940 cardiovascular cancer MONDO:0001340 heart cancer MONDO:0003274 NCIT:C3548 NCIT:C3576 thoracic cancer MONDO:0001340 heart cancer MONDO:0021209 NCIT:C3548 NCIT:C3081 heart neoplasm -MONDO:0001357 hypochromic anemia MONDO:0002280 NCIT:C34380 NCIT:C2869 anemia -MONDO:0001369 chronic laryngitis MONDO:0002647 NCIT:C26975 NCIT:C26811 laryngitis -MONDO:0001371 protein-energy malnutrition MONDO:0006873 NCIT:C34952 NCIT:C3669 nutritional deficiency disease MONDO:0001374 bladder sarcoma MONDO:0001187 NCIT:C4669 NCIT:C9334 urinary bladder cancer MONDO:0001374 bladder sarcoma MONDO:0018078 NCIT:C4669 NCIT:C9306 soft tissue sarcoma MONDO:0001381 bladder lymphoma MONDO:0001187 NCIT:C6164 NCIT:C9334 urinary bladder cancer -MONDO:0001382 hepatorenal syndrome MONDO:0002254 NCIT:C113400 NCIT:C28193 syndromic disease -MONDO:0001385 cortical blindness MONDO:0001941 NCIT:C118707 NCIT:C97109 blindness (disorder) -MONDO:0001386 visual epilepsy MONDO:0017768 NCIT:C3980 NCIT:C85041 reflex epilepsy MONDO:0001387 penile sarcoma MONDO:0001325 NCIT:C7730 NCIT:C7547 penile cancer MONDO:0001387 penile sarcoma MONDO:0018078 NCIT:C7730 NCIT:C9306 soft tissue sarcoma -MONDO:0001398 ureter benign neoplasm MONDO:0004180 NCIT:C3617 NCIT:C4893 benign urinary system neoplasm MONDO:0001398 ureter benign neoplasm MONDO:0021111 NCIT:C3617 NCIT:C3427 ureter neoplasm MONDO:0001399 ureter leiomyoma MONDO:0001398 NCIT:C6161 NCIT:C3617 ureter benign neoplasm MONDO:0001399 ureter leiomyoma MONDO:0001572 NCIT:C6161 NCIT:C3157 leiomyoma @@ -301,11 +170,9 @@ MONDO:0001400 schwannoma of ureter MONDO:0004820 NCIT:C6162 NCIT:C41430 peripher MONDO:0001402 vaginal cancer MONDO:0001416 NCIT:C7410 NCIT:C4913 female reproductive organ cancer MONDO:0001402 vaginal cancer MONDO:0021050 NCIT:C7410 NCIT:C3437 vaginal neoplasm MONDO:0001403 labium majus cancer MONDO:0001528 NCIT:C7638 NCIT:C7502 vulva cancer -MONDO:0001405 dermatophytosis of groin and perianal area MONDO:0004678 NCIT:C34535 NCIT:C26745 dermatophytosis MONDO:0001406 peripheral nervous system neoplasm MONDO:0003620 NCIT:C3321 NCIT:C27580 peripheral nervous system disorder MONDO:0001406 peripheral nervous system neoplasm MONDO:0021248 NCIT:C3321 NCIT:C3268 nervous system neoplasm MONDO:0001407 tracheal cancer MONDO:0021210 NCIT:C9346 NCIT:C3419 trachea neoplasm -MONDO:0001408 ischemic neuropathy MONDO:0005244 NCIT:C27025 NCIT:C4731 peripheral neuropathy MONDO:0001416 female reproductive organ cancer MONDO:0002149 NCIT:C4913 NCIT:C36076 reproductive system cancer MONDO:0001416 female reproductive organ cancer MONDO:0021148 NCIT:C4913 NCIT:C3053 female reproductive system neoplasm MONDO:0001417 tracheal lymphoma MONDO:0001407 NCIT:C6248 NCIT:C9346 tracheal cancer @@ -318,113 +185,56 @@ MONDO:0001420 trigeminal nerve neoplasm MONDO:0003543 NCIT:C5122 NCIT:C26952 tri MONDO:0001421 frontal lobe neoplasm MONDO:0021374 NCIT:C5572 NCIT:C4874 neoplasm of cerebral hemisphere MONDO:0001426 mediastinum neurofibroma MONDO:0003098 NCIT:C6631 NCIT:C6624 mediastinal neural neoplasm MONDO:0001426 mediastinum neurofibroma MONDO:0016755 NCIT:C6631 NCIT:C3272 neurofibroma -MONDO:0001429 transient arthropathy MONDO:0006816 NCIT:C35761 NCIT:C35760 arthropathy -MONDO:0001433 vaginal disorder MONDO:0002263 NCIT:C26910 NCIT:C27020 female reproductive system disorder -MONDO:0001442 dysthymic disorder MONDO:0005371 NCIT:C34562 NCIT:C92200 mood disorder -MONDO:0001451 peripheral retinal degeneration MONDO:0004580 NCIT:C34919 NCIT:C34979 retinal degeneration MONDO:0001470 anal margin squamous cell carcinoma MONDO:0002529 NCIT:C6925 NCIT:C4819 skin squamous cell carcinoma MONDO:0001470 anal margin squamous cell carcinoma MONDO:0002941 NCIT:C6925 NCIT:C7472 anal margin carcinoma MONDO:0001470 anal margin squamous cell carcinoma MONDO:0006082 NCIT:C6925 NCIT:C9161 anal squamous cell carcinoma MONDO:0001472 testicular lymphoma MONDO:0005447 NCIT:C6810 NCIT:C7251 testicular cancer -MONDO:0001479 cutaneous diphtheria MONDO:0021201 NCIT:C34544 NCIT:C35025 skin infection MONDO:0001482 testicular leukemia MONDO:0005059 NCIT:C9277 NCIT:C3161 leukemia MONDO:0001482 testicular leukemia MONDO:0005447 NCIT:C9277 NCIT:C7251 testicular cancer -MONDO:0001484 paranoid schizophrenia MONDO:0005090 NCIT:C35006 NCIT:C3362 schizophrenia MONDO:0001499 retroperitoneal lymphoma MONDO:0005941 NCIT:C7353 NCIT:C3537 retroperitoneal cancer MONDO:0001501 retroperitoneal sarcoma MONDO:0005941 NCIT:C4832 NCIT:C3537 retroperitoneal cancer MONDO:0001501 retroperitoneal sarcoma MONDO:0018078 NCIT:C4832 NCIT:C9306 soft tissue sarcoma MONDO:0001502 retroperitoneum carcinoma MONDO:0004993 NCIT:C7352 NCIT:C2916 carcinoma MONDO:0001502 retroperitoneum carcinoma MONDO:0005941 NCIT:C7352 NCIT:C3537 retroperitoneal cancer -MONDO:0001505 alcoholic hepatitis MONDO:0002251 NCIT:C34684 NCIT:C3095 hepatitis -MONDO:0001505 alcoholic hepatitis MONDO:0043693 NCIT:C34684 NCIT:C34783 alcoholic liver diseases -MONDO:0001520 kleptomania MONDO:0001162 NCIT:C94333 NCIT:C34723 impulse control disorder -MONDO:0001521 intermittent explosive disorder MONDO:0001162 NCIT:C94332 NCIT:C34723 impulse control disorder -MONDO:0001522 pyromania MONDO:0001162 NCIT:C94334 NCIT:C34723 impulse control disorder MONDO:0001526 labia minora cancer MONDO:0001528 NCIT:C7637 NCIT:C7502 vulva cancer MONDO:0001528 vulva cancer MONDO:0001416 NCIT:C7502 NCIT:C4913 female reproductive organ cancer MONDO:0001528 vulva cancer MONDO:0021049 NCIT:C7502 NCIT:C3443 vulvar neoplasm MONDO:0001536 vaginal leiomyoma MONDO:0000647 NCIT:C6373 NCIT:C3610 benign vaginal neoplasm MONDO:0001536 vaginal leiomyoma MONDO:0001572 NCIT:C6373 NCIT:C3157 leiomyoma -MONDO:0001540 bagassosis MONDO:0017853 NCIT:C34409 NCIT:C34369 hypersensitivity pneumonitis -MONDO:0001549 hemolytic-uremic syndrome MONDO:0001531 NCIT:C75545 NCIT:C2902 blood coagulation disease -MONDO:0001552 dyscalculia MONDO:0004681 NCIT:C97165 NCIT:C89334 learning disability -MONDO:0001555 neonatal thyrotoxicosis MONDO:0010138 NCIT:C114906 NCIT:C61469 thyrotoxicosis -MONDO:0001558 Potter sequence MONDO:0002254 NCIT:C40435 NCIT:C28193 syndromic disease -MONDO:0001560 hypertrophic pyloric stenosis MONDO:0001561 NCIT:C98952 NCIT:C34966 pyloric stenosis -MONDO:0001563 vestibulocochlear nerve disorder MONDO:0003569 NCIT:C27207 NCIT:C26733 cranial nerve neuropathy -MONDO:0001568 mixed receptive-expressive language disorder MONDO:0004750 NCIT:C92563 NCIT:C97155 language disorder MONDO:0001569 acoustic neuroma MONDO:0002546 NCIT:C3276 NCIT:C3269 schwannoma MONDO:0001572 leiomyoma MONDO:0006106 NCIT:C3157 NCIT:C6510 benign smooth muscle neoplasm -MONDO:0001576 telangiectasis MONDO:0021658 NCIT:C28194 NCIT:C45481 vascular ectasia -MONDO:0001577 respiratory syncytial virus infectious disease MONDO:0024352 NCIT:C3354 NCIT:C27219 viral respiratory tract infection -MONDO:0001586 mucopolysaccharidosis type 1 MONDO:0019249 NCIT:C85053 NCIT:C61259 mucopolysaccharidosis -MONDO:0001595 choreatic disease MONDO:0005395 NCIT:C84633 NCIT:C116757 movement disorder MONDO:0001602 labia minora carcinoma MONDO:0001526 NCIT:C9364 NCIT:C7637 labia minora cancer MONDO:0001602 labia minora carcinoma MONDO:0005215 NCIT:C9364 NCIT:C4866 vulvar carcinoma MONDO:0001606 central nervous system leukemia MONDO:0003641 NCIT:C5440 NCIT:C5503 central nervous system hematopoietic neoplasm MONDO:0001606 central nervous system leukemia MONDO:0005059 NCIT:C5440 NCIT:C3161 leukemia MONDO:0001608 vagus nerve neoplasm MONDO:0001535 NCIT:C5831 NCIT:C27591 vagus nerve disorder -MONDO:0001609 agranulocytosis MONDO:0003785 NCIT:C2863 NCIT:C26816 leukopenia -MONDO:0001612 carotid stenosis MONDO:0005269 NCIT:C95804 NCIT:C84476 carotid artery disorder -MONDO:0001615 epidemic keratoconjunctivitis MONDO:0004768 NCIT:C34590 NCIT:C34744 keratoconjunctivitis -MONDO:0001621 tick-borne relapsing fever MONDO:0006956 NCIT:C34976 NCIT:C34991 Rickettsiosis -MONDO:0001627 dementia MONDO:0002039 NCIT:C4786 NCIT:C92196 cognitive disorder -MONDO:0001628 tinea unguium MONDO:0024487 NCIT:C112214 NCIT:C78493 nail infection -MONDO:0001630 branch retinal artery occlusion MONDO:0006948 NCIT:C34436 NCIT:C34978 retinal artery occlusion -MONDO:0001631 vertebral artery insufficiency MONDO:0002254 NCIT:C35123 NCIT:C28193 syndromic disease -MONDO:0001633 central retinal artery occlusion MONDO:0006948 NCIT:C34456 NCIT:C34978 retinal artery occlusion MONDO:0001634 bladder leiomyoma MONDO:0000384 NCIT:C6178 NCIT:C3618 bladder benign neoplasm MONDO:0001634 bladder leiomyoma MONDO:0001572 NCIT:C6178 NCIT:C3157 leiomyoma MONDO:0001635 bladder squamous papilloma MONDO:0000384 NCIT:C39834 NCIT:C3618 bladder benign neoplasm -MONDO:0001635 bladder squamous papilloma MONDO:0001825 NCIT:C39834 NCIT:C3712 squamous papilloma -MONDO:0001641 severe pre-eclampsia MONDO:0005081 NCIT:C112843 NCIT:C85021 preeclampsia -MONDO:0001648 esophageal candidiasis MONDO:0001649 NCIT:C27027 NCIT:C27107 fungal esophagitis -MONDO:0001648 esophageal candidiasis MONDO:0002026 NCIT:C27027 NCIT:C26711 candidiasis -MONDO:0001649 fungal esophagitis MONDO:0001409 NCIT:C27107 NCIT:C9224 esophagitis -MONDO:0001649 fungal esophagitis MONDO:0002041 NCIT:C27107 NCIT:C3245 fungal infectious disease MONDO:0001651 scrotum squamous cell carcinoma MONDO:0002650 NCIT:C4643 NCIT:C6389 scrotal carcinoma -MONDO:0001654 spermatic cord cancer MONDO:0005836 NCIT:C3559 NCIT:C8561 male reproductive organ cancer MONDO:0001657 brain cancer MONDO:0021211 NCIT:C3568 NCIT:C2907 brain neoplasm -MONDO:0001658 nontoxic goiter MONDO:0005397 NCIT:C35271 NCIT:C26785 goiter -MONDO:0001660 proliferative diabetic retinopathy MONDO:0005266 NCIT:C84457 NCIT:C34538 diabetic retinopathy -MONDO:0001661 background diabetic retinopathy MONDO:0005266 NCIT:C35668 NCIT:C34538 diabetic retinopathy MONDO:0001680 vaginal mullerian papilloma MONDO:0000647 NCIT:C40255 NCIT:C3610 benign vaginal neoplasm MONDO:0001680 vaginal mullerian papilloma MONDO:0001704 NCIT:C40255 NCIT:C40250 vaginal glandular neoplasm -MONDO:0001680 vaginal mullerian papilloma MONDO:0021078 NCIT:C40255 NCIT:C6880 glandular papilloma -MONDO:0001700 megaloblastic anemia MONDO:0002281 NCIT:C34382 NCIT:C34381 macrocytic anemia MONDO:0001702 labia majora carcinoma MONDO:0001403 NCIT:C9363 NCIT:C7638 labium majus cancer MONDO:0001702 labia majora carcinoma MONDO:0005215 NCIT:C9363 NCIT:C4866 vulvar carcinoma -MONDO:0001703 color vision disorder MONDO:0001941 NCIT:C3891 NCIT:C97109 blindness (disorder) MONDO:0001704 vaginal glandular neoplasm MONDO:0021050 NCIT:C40250 NCIT:C3437 vaginal neoplasm MONDO:0001704 vaginal glandular neoplasm MONDO:0024276 NCIT:C40250 NCIT:C7132 glandular cell neoplasm -MONDO:0001707 cardiac sarcoidosis MONDO:0019338 NCIT:C35589 NCIT:C34995 sarcoidosis -MONDO:0001708 pulmonary sarcoidosis MONDO:0019338 NCIT:C34997 NCIT:C34995 sarcoidosis -MONDO:0001709 hypercalcemic sarcoidosis MONDO:0019338 NCIT:C35807 NCIT:C34995 sarcoidosis -MONDO:0001718 scleritis MONDO:0001269 NCIT:C119046 NCIT:C79717 scleral disorder MONDO:0001724 supraglottis cancer MONDO:0002352 NCIT:C3545 NCIT:C7484 larynx cancer MONDO:0001724 supraglottis cancer MONDO:0004427 NCIT:C3545 NCIT:C6793 supraglottis neoplasm -MONDO:0001725 balanitis xerotica obliterans MONDO:0006672 NCIT:C3523 NCIT:C26705 balanitis MONDO:0001731 benign vaginal mixed epithelial and mesenchymal neoplasm MONDO:0000647 NCIT:C40275 NCIT:C3610 benign vaginal neoplasm -MONDO:0001732 trigonitis MONDO:0006032 NCIT:C123175 NCIT:C26738 cystitis -MONDO:0001734 tuberous sclerosis MONDO:0042983 NCIT:C3424 NCIT:C84348 neurocutaneous syndrome -MONDO:0001737 tetanus neonatorum MONDO:0005526 NCIT:C116814 NCIT:C85185 tetanus MONDO:0001740 cornea squamous cell carcinoma MONDO:0002466 NCIT:C4552 NCIT:C6079 eye carcinoma MONDO:0001740 cornea squamous cell carcinoma MONDO:0003802 NCIT:C4552 NCIT:C3565 cornea cancer -MONDO:0001741 hyperparathyroidism MONDO:0001223 NCIT:C48259 NCIT:C26844 parathyroid gland disorder MONDO:0001743 paranasal sinus lymphoma MONDO:0020669 NCIT:C6068 NCIT:C7487 paranasal sinus cancer MONDO:0001748 maxillary sinus carcinoma MONDO:0000380 NCIT:C9332 NCIT:C6014 paranasal sinus carcinoma MONDO:0001748 maxillary sinus carcinoma MONDO:0006850 NCIT:C3540 NCIT:C3219 maxillary sinus neoplasm -MONDO:0001754 eclampsia MONDO:0045048 NCIT:C87167 NCIT:C34943 toxemia of pregnancy MONDO:0001756 frontal sinus cancer MONDO:0001757 NCIT:C3542 NCIT:C4419 frontal sinus neoplasm MONDO:0001757 frontal sinus neoplasm MONDO:0005289 NCIT:C4419 NCIT:C7488 paranasal sinus neoplasm -MONDO:0001760 photokeratitis MONDO:0003085 NCIT:C118750 NCIT:C26805 keratitis MONDO:0001763 ethmoid sinus cancer MONDO:0001764 NCIT:C3541 NCIT:C4416 ethmoidal sinus neoplasm MONDO:0001764 ethmoidal sinus neoplasm MONDO:0005289 NCIT:C4416 NCIT:C7488 paranasal sinus neoplasm MONDO:0001778 dermoid cyst of skin MONDO:0002378 NCIT:C4632 NCIT:C9011 dermoid cyst MONDO:0001779 vaginal squamous papilloma MONDO:0000647 NCIT:C6374 NCIT:C3610 benign vaginal neoplasm MONDO:0001779 vaginal squamous papilloma MONDO:0001806 NCIT:C6374 NCIT:C40242 vaginal squamous tumor MONDO:0001779 vaginal squamous papilloma MONDO:0001825 NCIT:C6374 NCIT:C3712 squamous papilloma -MONDO:0001780 premature ejaculation MONDO:0000595 NCIT:C94349 NCIT:C92202 sexual and gender identity disorders MONDO:0001781 uterine corpus adenomatoid tumor MONDO:0004230 NCIT:C27250 NCIT:C3762 adenomatoid tumor MONDO:0001781 uterine corpus adenomatoid tumor MONDO:0021525 NCIT:C27250 NCIT:C3608 benign neoplasm of corpus uteri MONDO:0001783 endometrial stromal nodule MONDO:0021525 NCIT:C4262 NCIT:C3608 benign neoplasm of corpus uteri @@ -432,18 +242,10 @@ MONDO:0001783 endometrial stromal nodule MONDO:0044335 NCIT:C4262 NCIT:C4242 ben MONDO:0001789 neurofibroma of spinal cord MONDO:0016755 NCIT:C5145 NCIT:C3272 neurofibroma MONDO:0001790 spinal cord lipoma MONDO:0003844 NCIT:C4619 NCIT:C5451 central nervous system lipoma MONDO:0001790 spinal cord lipoma MONDO:0021506 NCIT:C4619 NCIT:C3627 benign neoplasm of spinal cord -MONDO:0001794 Pthirus pubis infestation MONDO:0021201 NCIT:C35777 NCIT:C35025 skin infection MONDO:0001795 plantar wart MONDO:0024666 NCIT:C26913 NCIT:C7341 benign epithelial skin neoplasm MONDO:0001806 vaginal squamous tumor MONDO:0002532 NCIT:C40242 NCIT:C3792 squamous cell neoplasm MONDO:0001806 vaginal squamous tumor MONDO:0021050 NCIT:C40242 NCIT:C3437 vaginal neoplasm -MONDO:0001810 hypoglossal nerve disorder MONDO:0003569 NCIT:C26954 NCIT:C26733 cranial nerve neuropathy -MONDO:0001811 tetanic cataract MONDO:0005129 NCIT:C35068 NCIT:C26713 cataract -MONDO:0001823 sick sinus syndrome MONDO:0002254 NCIT:C62244 NCIT:C28193 syndromic disease -MONDO:0001824 polyneuropathy MONDO:0005244 NCIT:C26951 NCIT:C4731 peripheral neuropathy MONDO:0001825 squamous papilloma MONDO:0002363 NCIT:C3712 NCIT:C7440 papilloma -MONDO:0001828 acquired color blindness MONDO:0001703 NCIT:C118712 NCIT:C3891 color vision disorder -MONDO:0001832 bacterial esophagitis MONDO:0001409 NCIT:C27106 NCIT:C9224 esophagitis -MONDO:0001834 visual pathway disorder MONDO:0021084 NCIT:C35342 NCIT:C35126 vision disorder MONDO:0001841 uterine corpus epithelioid leiomyoma MONDO:0007886 NCIT:C40164 NCIT:C3434 uterine corpus leiomyoma MONDO:0001842 uterine corpus dissecting leiomyoma MONDO:0007886 NCIT:C40172 NCIT:C3434 uterine corpus leiomyoma MONDO:0001844 uterine corpus myxoid leiomyoma MONDO:0007886 NCIT:C40166 NCIT:C3434 uterine corpus leiomyoma @@ -452,10 +254,7 @@ MONDO:0001846 uterine corpus bizarre leiomyoma MONDO:0003288 NCIT:C40167 NCIT:C4 MONDO:0001846 uterine corpus bizarre leiomyoma MONDO:0007886 NCIT:C40167 NCIT:C3434 uterine corpus leiomyoma MONDO:0001852 small intestine lymphoma MONDO:0000956 NCIT:C4007 NCIT:C7523 small intestine cancer MONDO:0001852 small intestine lymphoma MONDO:0004699 NCIT:C4007 NCIT:C38162 gastrointestinal lymphoma -MONDO:0001854 lacrimal apparatus disorder MONDO:0005328 NCIT:C26809 NCIT:C26767 eye disorder -MONDO:0001871 acute diffuse glomerulonephritis MONDO:0003137 NCIT:C35587 NCIT:C35799 diffuse glomerulonephritis MONDO:0001879 anus cancer MONDO:0003046 NCIT:C7379 NCIT:C2877 anus neoplasm -MONDO:0001881 toxic shock syndrome MONDO:0002254 NCIT:C35498 NCIT:C28193 syndromic disease MONDO:0001884 abducens nerve neoplasm MONDO:0002633 NCIT:C5826 NCIT:C2963 cranial nerve neoplasm MONDO:0001884 abducens nerve neoplasm MONDO:0020594 NCIT:C5826 NCIT:C27593 abducens nerve disorder MONDO:0001888 anus lymphoma MONDO:0001879 NCIT:C5601 NCIT:C7379 anus cancer @@ -465,32 +264,12 @@ MONDO:0001893 spinal cord melanoma MONDO:0003544 NCIT:C5158 NCIT:C3572 spinal co MONDO:0001893 spinal cord melanoma MONDO:0016747 NCIT:C5158 NCIT:C5505 primary melanoma of the central nervous system MONDO:0001894 spinal cord sarcoma MONDO:0002217 NCIT:C5152 NCIT:C5153 central nervous system sarcoma MONDO:0001894 spinal cord sarcoma MONDO:0003544 NCIT:C5152 NCIT:C3572 spinal cord cancer -MONDO:0001896 obstructive hydrocephalus MONDO:0001150 NCIT:C116347 NCIT:C3111 hydrocephalus -MONDO:0001898 optic choroid disorder MONDO:0002661 NCIT:C34468 NCIT:C26908 uveal disorder -MONDO:0001901 selective IgG subclass deficiency MONDO:0045045 NCIT:C27024 NCIT:C27142 selective IgG immunodeficiency -MONDO:0001907 adult dermatomyositis MONDO:0016367 NCIT:C27313 NCIT:C26744 dermatomyositis -MONDO:0001922 pyoureter MONDO:0005227 NCIT:C35666 NCIT:C26686 abscess -MONDO:0001926 ureteral disorder MONDO:0002118 NCIT:C27148 NCIT:C3430 urinary system disorder -MONDO:0001927 pulmonary valve insufficiency MONDO:0003628 NCIT:C50848 NCIT:C78579 pulmonary valve disorder -MONDO:0001928 suppurative cholangitis MONDO:0004789 NCIT:C35336 NCIT:C26718 cholangitis -MONDO:0001929 ascending cholangitis MONDO:0004789 NCIT:C35372 NCIT:C26718 cholangitis -MONDO:0001930 acute cholangitis MONDO:0004789 NCIT:C35334 NCIT:C26718 cholangitis -MONDO:0001933 endocrine pancreas disorder MONDO:0002356 NCIT:C27067 NCIT:C26842 pancreas disorder MONDO:0001939 skin epithelioid hemangioma MONDO:0003110 NCIT:C7393 NCIT:C4905 skin hemangioma MONDO:0001939 skin epithelioid hemangioma MONDO:0021169 NCIT:C7393 NCIT:C4298 epithelioid hemangioma -MONDO:0001942 generalized anxiety disorder MONDO:0005618 NCIT:C92622 NCIT:C2878 anxiety disorder -MONDO:0001943 Plasmodium malariae malaria MONDO:0005136 NCIT:C34799 NCIT:C34797 malaria -MONDO:0001945 postencephalitic Parkinson disease MONDO:0006966 NCIT:C34898 NCIT:C34899 secondary Parkinson disease -MONDO:0001947 suppurative thyroiditis MONDO:0004126 NCIT:C129724 NCIT:C26894 thyroiditis -MONDO:0001951 Norwegian scabies MONDO:0004525 NCIT:C34855 NCIT:C34998 scabies -MONDO:0001956 capillary leak syndrome MONDO:0002254 NCIT:C62578 NCIT:C28193 syndromic disease MONDO:0001974 hemangioma of orbit MONDO:0006500 NCIT:C6245 NCIT:C3085 hemangioma MONDO:0001975 cavernous hemangioma of orbit MONDO:0003155 NCIT:C4546 NCIT:C3086 cavernous hemangioma MONDO:0001977 ureteral lymphoma MONDO:0008627 NCIT:C6175 NCIT:C7543 ureter cancer MONDO:0001978 regional ureteric cancer MONDO:0006481 NCIT:C9356 NCIT:C8993 ureter carcinoma -MONDO:0001979 dumping syndrome MONDO:0002254 NCIT:C2994 NCIT:C28193 syndromic disease -MONDO:0001982 Niemann-Pick disease MONDO:0019255 NCIT:C61269 NCIT:C117254 sphingolipidosis -MONDO:0001985 partial arterial retinal occlusion MONDO:0006948 NCIT:C35192 NCIT:C34978 retinal artery occlusion MONDO:0001990 malignant cardiac peripheral nerve sheath neoplasm MONDO:0003354 NCIT:C5367 NCIT:C7723 heart sarcoma MONDO:0001990 malignant cardiac peripheral nerve sheath neoplasm MONDO:0017827 NCIT:C5367 NCIT:C3798 malignant peripheral nerve sheath tumor MONDO:0001991 malignant cardiac germ cell tumor MONDO:0001340 NCIT:C5371 NCIT:C3548 heart cancer @@ -502,10 +281,6 @@ MONDO:0001993 seminal vesicle adenocarcinoma MONDO:0004970 NCIT:C39906 NCIT:C285 MONDO:0001994 sphenoidal sinus cancer MONDO:0004047 NCIT:C3543 NCIT:C6792 sphenoidal sinus neoplasm MONDO:0001995 sphenoid sinus squamous cell carcinoma MONDO:0001994 NCIT:C6066 NCIT:C3543 sphenoidal sinus cancer MONDO:0001995 sphenoid sinus squamous cell carcinoma MONDO:0044705 NCIT:C6066 NCIT:C8193 paranasal sinus squamous cell carcinoma -MONDO:0002009 major depressive disorder MONDO:0002050 NCIT:C35094 NCIT:C2982 depressive disorder -MONDO:0002027 avoidant personality disorder MONDO:0002028 NCIT:C92636 NCIT:C34922 personality disorder -MONDO:0002028 personality disorder MONDO:0002025 NCIT:C34922 NCIT:C2893 psychiatric disorder -MONDO:0002030 chronic cervicitis MONDO:0002345 NCIT:C27057 NCIT:C26716 cervicitis MONDO:0002032 colon carcinoma MONDO:0021063 NCIT:C4910 NCIT:C9242 malignant colon neoplasm MONDO:0002032 colon carcinoma MONDO:0024331 NCIT:C4910 NCIT:C2955 colorectal carcinoma MONDO:0002033 cecum cancer MONDO:0005694 NCIT:C9329 NCIT:C4433 cecal neoplasm @@ -514,15 +289,8 @@ MONDO:0002034 cecum lymphoma MONDO:0002033 NCIT:C5515 NCIT:C9329 cecum cancer MONDO:0002034 cecum lymphoma MONDO:0002035 NCIT:C5515 NCIT:C4793 colon lymphoma MONDO:0002035 colon lymphoma MONDO:0021063 NCIT:C4793 NCIT:C9242 malignant colon neoplasm MONDO:0002035 colon lymphoma MONDO:0024656 NCIT:C4793 NCIT:C96498 colorectal lymphoma -MONDO:0002036 penile disorder MONDO:0003150 NCIT:C26846 NCIT:C27019 male reproductive system disorder MONDO:0002038 head and neck carcinoma MONDO:0004993 NCIT:C35850 NCIT:C2916 carcinoma MONDO:0002038 head and neck carcinoma MONDO:0005627 NCIT:C35850 NCIT:C4013 head and neck cancer -MONDO:0002039 cognitive disorder MONDO:0002025 NCIT:C92196 NCIT:C2893 psychiatric disorder -MONDO:0002041 fungal infectious disease MONDO:0005550 NCIT:C3245 NCIT:C26726 infectious disease -MONDO:0002045 communicating hydrocephalus MONDO:0001150 NCIT:C34501 NCIT:C3111 hydrocephalus -MONDO:0002048 thrombocytopenia due to immune destruction MONDO:0002049 NCIT:C3991 NCIT:C3408 thrombocytopenia -MONDO:0002050 depressive disorder MONDO:0005371 NCIT:C2982 NCIT:C92200 mood disorder -MONDO:0002052 lymphadenitis MONDO:0004928 NCIT:C26821 NCIT:C35346 lymph node disorder MONDO:0002055 benign eccrine breast spiradenoma MONDO:0000620 NCIT:C5193 NCIT:C4505 breast benign neoplasm MONDO:0002055 benign eccrine breast spiradenoma MONDO:0003448 NCIT:C5193 NCIT:C4170 benign spiradenoma MONDO:0002056 breast fibroadenoma MONDO:0021046 NCIT:C3744 NCIT:C40405 breast fibroepithelial neoplasm @@ -540,26 +308,19 @@ MONDO:0002065 benign breast adenomyoepithelioma MONDO:0002066 NCIT:C5144 NCIT:C6 MONDO:0002066 breast adenomyoepithelioma MONDO:0002483 NCIT:C6899 NCIT:C40389 breast myoepithelial tumor MONDO:0002071 supratentorial cancer MONDO:0001657 NCIT:C4964 NCIT:C3568 brain cancer MONDO:0002073 malignant pineal area germ cell neoplasm MONDO:0003249 NCIT:C6767 NCIT:C3573 pineal gland cancer -MONDO:0002074 Behcet syndrome arthropathy MONDO:0006816 NCIT:C35225 NCIT:C35760 arthropathy -MONDO:0002078 heart septal defect MONDO:0005453 NCIT:C84482 NCIT:C95834 congenital heart disease MONDO:0002082 endocrine gland neoplasm MONDO:0005151 NCIT:C3010 NCIT:C3009 endocrine system disorder -MONDO:0002083 Richter syndrome MONDO:0021058 NCIT:C35424 NCIT:C54705 neoplastic syndrome MONDO:0002086 clear cell acanthoma MONDO:0002093 NCIT:C97041 NCIT:C7419 acanthoma MONDO:0002087 peritoneum cancer MONDO:0006901 NCIT:C3538 NCIT:C3322 peritoneal neoplasm -MONDO:0002088 partial retinal vein occlusion MONDO:0006951 NCIT:C35341 NCIT:C34981 retinal vein occlusion -MONDO:0002089 retinal vascular occlusion MONDO:0002311 NCIT:C34980 NCIT:C35170 retinal vascular disorder MONDO:0002090 eccrine sweat gland neoplasm MONDO:0002381 NCIT:C6796 NCIT:C3398 sweat gland neoplasm MONDO:0002092 small intestine leiomyoma MONDO:0021501 NCIT:C7725 NCIT:C3600 benign neoplasm of small intestine MONDO:0002093 acanthoma MONDO:0024666 NCIT:C7419 NCIT:C7341 benign epithelial skin neoplasm MONDO:0002095 vascular cancer MONDO:0021080 NCIT:C8538 NCIT:C7387 blood vessel neoplasm MONDO:0002096 malignant conjunctival melanoma MONDO:0003454 NCIT:C4550 NCIT:C3564 conjunctival cancer MONDO:0002096 malignant conjunctival melanoma MONDO:0006325 NCIT:C4550 NCIT:C8562 ocular melanoma -MONDO:0002098 facial nerve disorder MONDO:0003569 NCIT:C27594 NCIT:C26733 cranial nerve neuropathy MONDO:0002100 cardiovascular cancer MONDO:0004992 NCIT:C114940 NCIT:C9305 cancer MONDO:0002100 cardiovascular cancer MONDO:0024757 NCIT:C114940 NCIT:C4784 cardiovascular neoplasm MONDO:0002101 facial nerve neoplasm MONDO:0002098 NCIT:C5827 NCIT:C27594 facial nerve disorder MONDO:0002101 facial nerve neoplasm MONDO:0002633 NCIT:C5827 NCIT:C2963 cranial nerve neoplasm -MONDO:0002103 factitious disorder MONDO:0002025 NCIT:C92198 NCIT:C2893 psychiatric disorder MONDO:0002108 thyroid cancer MONDO:0015074 NCIT:C7510 NCIT:C3414 thyroid tumor MONDO:0002109 pituitary cancer MONDO:0017611 NCIT:C4769 NCIT:C3330 pituitary tumor MONDO:0002110 adrenal rest tumor MONDO:0000383 NCIT:C2860 NCIT:C7617 benign reproductive system neoplasm @@ -573,18 +334,13 @@ MONDO:0002117 pancreas sarcoma MONDO:0009831 NCIT:C5715 NCIT:C9005 malignant pan MONDO:0002120 neuroendocrine carcinoma MONDO:0004993 NCIT:C3773 NCIT:C2916 carcinoma MONDO:0002120 neuroendocrine carcinoma MONDO:0019496 NCIT:C3773 NCIT:C3809 neuroendocrine neoplasm MONDO:0002120 neuroendocrine carcinoma MONDO:0021069 NCIT:C3773 NCIT:C3575 malignant endocrine neoplasm -MONDO:0002122 neuritis MONDO:0005244 NCIT:C116381 NCIT:C4731 peripheral neuropathy MONDO:0002129 bone cancer MONDO:0019060 NCIT:C4016 NCIT:C9343 bone neoplasm -MONDO:0002135 optic nerve disorder MONDO:0003569 NCIT:C79698 NCIT:C26733 cranial nerve neuropathy MONDO:0002140 vagina sarcoma MONDO:0001402 NCIT:C7737 NCIT:C7410 vaginal cancer MONDO:0002140 vagina sarcoma MONDO:0018078 NCIT:C7737 NCIT:C9306 soft tissue sarcoma MONDO:0002141 cutaneous undifferentiated pleomorphic sarcoma MONDO:0002142 NCIT:C5576 NCIT:C4247 undifferentiated pleomorphic sarcoma MONDO:0002141 cutaneous undifferentiated pleomorphic sarcoma MONDO:0006414 NCIT:C5576 NCIT:C5585 skin sarcoma MONDO:0002143 vaginal yolk sac tumor MONDO:0005744 NCIT:C6379 NCIT:C3011 yolk sac tumor MONDO:0002149 reproductive system cancer MONDO:0006054 NCIT:C36076 NCIT:C3674 reproductive system neoplasm -MONDO:0002153 telogen effluvium MONDO:0004907 NCIT:C112200 NCIT:C50575 alopecia -MONDO:0002154 trichomoniasis MONDO:0002428 NCIT:C35720 NCIT:C34953 protozoa infectious disease -MONDO:0002156 fallopian tube disorder MONDO:0002263 NCIT:C26771 NCIT:C27020 female reproductive system disorder MONDO:0002158 fallopian tube cancer MONDO:0001416 NCIT:C7480 NCIT:C4913 female reproductive organ cancer MONDO:0002158 fallopian tube cancer MONDO:0021092 NCIT:C7480 NCIT:C3032 fallopian tube neoplasm MONDO:0002159 fallopian tube leiomyosarcoma MONDO:0002158 NCIT:C40128 NCIT:C7480 fallopian tube cancer @@ -600,7 +356,6 @@ MONDO:0002168 rectum sarcoma MONDO:0006519 NCIT:C5548 NCIT:C7418 rectal cancer MONDO:0002169 rectum adenocarcinoma MONDO:0005008 NCIT:C9383 NCIT:C5105 colorectal adenocarcinoma MONDO:0002169 rectum adenocarcinoma MONDO:0044937 NCIT:C9383 NCIT:C9382 rectal carcinoma MONDO:0002178 placenta cancer MONDO:0021218 NCIT:C3555 NCIT:C4858 placenta neoplasm -MONDO:0002187 vulvar disease MONDO:0002263 NCIT:C27631 NCIT:C27020 female reproductive system disorder MONDO:0002188 vulvar nodular hidradenoma MONDO:0000643 NCIT:C40312 NCIT:C3611 vulvar benign neoplasm MONDO:0002188 vulvar nodular hidradenoma MONDO:0002189 NCIT:C40312 NCIT:C7568 nodular hidradenoma MONDO:0002189 nodular hidradenoma MONDO:0002805 NCIT:C7568 NCIT:C7563 hidradenoma @@ -623,7 +378,6 @@ MONDO:0002201 vulvar trichoepithelioma MONDO:0020593 NCIT:C40314 NCIT:C27132 tri MONDO:0002205 vulvar melanoma MONDO:0001528 NCIT:C40329 NCIT:C7502 vulva cancer MONDO:0002206 sweat gland cancer MONDO:0002381 NCIT:C4810 NCIT:C3398 sweat gland neoplasm MONDO:0002207 vulval Paget disease MONDO:0008177 NCIT:C4027 NCIT:C3302 extramammary Paget disease -MONDO:0002211 B cell deficiency MONDO:0021094 NCIT:C4799 NCIT:C3131 immunodeficiency disease MONDO:0002214 brain germinoma MONDO:0001657 NCIT:C6284 NCIT:C3568 brain cancer MONDO:0002216 brain sarcoma MONDO:0001657 NCIT:C5154 NCIT:C3568 brain cancer MONDO:0002216 brain sarcoma MONDO:0002217 NCIT:C5154 NCIT:C5153 central nervous system sarcoma @@ -644,23 +398,10 @@ MONDO:0002230 ovarian Wilms tumor MONDO:0008170 NCIT:C40443 NCIT:C7431 ovarian c MONDO:0002235 eyelid neoplasm MONDO:0003382 NCIT:C3031 NCIT:C26768 eyelid disorder MONDO:0002235 eyelid neoplasm MONDO:0021220 NCIT:C3031 NCIT:C3030 eye neoplasm MONDO:0002236 ocular cancer MONDO:0021220 NCIT:C4767 NCIT:C3030 eye neoplasm -MONDO:0002242 coagulation protein disease MONDO:0001531 NCIT:C27215 NCIT:C2902 blood coagulation disease -MONDO:0002247 factor X deficiency MONDO:0002242 NCIT:C131632 NCIT:C27215 coagulation protein disease -MONDO:0002250 basilar artery insufficiency MONDO:0002254 NCIT:C34413 NCIT:C28193 syndromic disease -MONDO:0002252 granulomatous hepatitis MONDO:0002251 NCIT:C27015 NCIT:C3095 hepatitis -MONDO:0002256 cervix disorder MONDO:0002654 NCIT:C40241 NCIT:C26907 uterine disorder -MONDO:0002259 gonadal disorder MONDO:0005039 NCIT:C26786 NCIT:C4875 reproductive system disorder -MONDO:0002263 female reproductive system disorder MONDO:0005039 NCIT:C27020 NCIT:C4875 reproductive system disorder -MONDO:0002270 viral gastritis MONDO:0004966 NCIT:C27184 NCIT:C26780 gastritis -MONDO:0002270 viral gastritis MONDO:0005108 NCIT:C27184 NCIT:C3439 viral infectious disease MONDO:0002271 colon adenocarcinoma MONDO:0002032 NCIT:C4349 NCIT:C4910 colon carcinoma MONDO:0002271 colon adenocarcinoma MONDO:0005008 NCIT:C4349 NCIT:C5105 colorectal adenocarcinoma -MONDO:0002275 generalized atherosclerosis MONDO:0005311 NCIT:C35767 NCIT:C35768 atherosclerosis -MONDO:0002277 arteriosclerosis disorder MONDO:0000473 NCIT:C34398 NCIT:C35317 arterial disorder MONDO:0002278 benign colon neoplasm MONDO:0005401 NCIT:C2894 NCIT:C2953 colonic neoplasm MONDO:0002278 benign colon neoplasm MONDO:0021444 NCIT:C2894 NCIT:C4610 benign neoplasm of large intestine -MONDO:0002281 macrocytic anemia MONDO:0002280 NCIT:C34381 NCIT:C2869 anemia -MONDO:0002289 iris disorder MONDO:0002661 NCIT:C34737 NCIT:C26908 uveal disorder MONDO:0002290 clitoris cancer MONDO:0001528 NCIT:C3557 NCIT:C7502 vulva cancer MONDO:0002291 cutaneous granular cell tumor MONDO:0006235 NCIT:C5617 NCIT:C3474 granular cell tumor MONDO:0002293 cutaneous ganglioneuroma MONDO:0005033 NCIT:C4481 NCIT:C3049 ganglioneuroma @@ -673,31 +414,14 @@ MONDO:0002299 glomangioma MONDO:0018327 NCIT:C4222 NCIT:C3060 glomus tumor MONDO:0002300 dermis tumor MONDO:0002531 NCIT:C4475 NCIT:C3372 skin neoplasm MONDO:0002301 frontal sinus squamous cell carcinoma MONDO:0001756 NCIT:C6067 NCIT:C3542 frontal sinus cancer MONDO:0002301 frontal sinus squamous cell carcinoma MONDO:0044705 NCIT:C6067 NCIT:C8193 paranasal sinus squamous cell carcinoma -MONDO:0002303 central retinal vein occlusion MONDO:0006951 NCIT:C118859 NCIT:C34981 retinal vein occlusion -MONDO:0002304 protein S deficiency MONDO:0002305 NCIT:C99026 NCIT:C84479 thrombophilia -MONDO:0002305 thrombophilia MONDO:0001531 NCIT:C84479 NCIT:C2902 blood coagulation disease -MONDO:0002308 giant papillary conjunctivitis MONDO:0002309 NCIT:C34507 NCIT:C35616 papillary conjunctivitis -MONDO:0002309 papillary conjunctivitis MONDO:0003799 NCIT:C35616 NCIT:C34504 conjunctivitis -MONDO:0002311 retinal vascular disorder MONDO:0005552 NCIT:C35170 NCIT:C35664 ocular vascular disorder -MONDO:0002313 vernal conjunctivitis MONDO:0002314 NCIT:C34508 NCIT:C35197 chronic conjunctivitis -MONDO:0002314 chronic conjunctivitis MONDO:0003799 NCIT:C35197 NCIT:C34504 conjunctivitis -MONDO:0002316 motor peripheral neuropathy MONDO:0005244 NCIT:C3500 NCIT:C119734 peripheral neuropathy MONDO:0002318 trachea leiomyoma MONDO:0001572 NCIT:C6049 NCIT:C3157 leiomyoma MONDO:0002318 trachea leiomyoma MONDO:0021517 NCIT:C6049 NCIT:C3602 benign neoplasm of trachea -MONDO:0002321 sensory peripheral neuropathy MONDO:0005244 NCIT:C3501 NCIT:C119734 peripheral neuropathy MONDO:0002323 cherry hemangioma MONDO:0002407 NCIT:C4390 NCIT:C7457 capillary hemangioma MONDO:0002323 cherry hemangioma MONDO:0003110 NCIT:C4390 NCIT:C4905 skin hemangioma MONDO:0002327 intracranial cavernous angioma MONDO:0002328 NCIT:C5432 NCIT:C3633 intracranial hemangioma -MONDO:0002329 testicular disorder MONDO:0003150 NCIT:C26890 NCIT:C27019 male reproductive system disorder -MONDO:0002333 splenic abscess MONDO:0005227 NCIT:C35347 NCIT:C26686 abscess -MONDO:0002335 chronic inflammatory demyelinating polyneuritis MONDO:0003334 NCIT:C84636 NCIT:C27062 demyelinating polyneuropathy MONDO:0002337 intra-abdominal hemangioma MONDO:0006500 NCIT:C3635 NCIT:C3085 hemangioma -MONDO:0002338 extratemporal epilepsy MONDO:0005027 NCIT:C7760 NCIT:C3020 epilepsy -MONDO:0002340 tactile epilepsy MONDO:0017768 NCIT:C4687 NCIT:C85041 reflex epilepsy -MONDO:0002341 granulomatous angiitis MONDO:0043494 NCIT:C34653 NCIT:C34399 arteritis MONDO:0002343 splenic hemangioma MONDO:0002337 NCIT:C8541 NCIT:C3635 intra-abdominal hemangioma MONDO:0002343 splenic hemangioma MONDO:0021500 NCIT:C8541 NCIT:C4902 benign neoplasm of spleen -MONDO:0002350 familial nephrotic syndrome MONDO:0005377 NCIT:C35337 NCIT:C34845 nephrotic syndrome MONDO:0002351 glottis cancer MONDO:0002352 NCIT:C3544 NCIT:C7484 larynx cancer MONDO:0002351 glottis cancer MONDO:0002353 NCIT:C3544 NCIT:C4425 glottis neoplasm MONDO:0002352 larynx cancer MONDO:0021071 NCIT:C7484 NCIT:C3156 laryngeal neoplasm @@ -705,7 +429,6 @@ MONDO:0002353 glottis neoplasm MONDO:0021071 NCIT:C4425 NCIT:C3156 laryngeal neo MONDO:0002354 benign laryngeal neoplasm MONDO:0021071 NCIT:C3601 NCIT:C3156 laryngeal neoplasm MONDO:0002355 glottis carcinoma MONDO:0002351 NCIT:C4923 NCIT:C3544 glottis cancer MONDO:0002355 glottis carcinoma MONDO:0002358 NCIT:C4923 NCIT:C4855 laryngeal carcinoma -MONDO:0002356 pancreas disorder MONDO:0004335 NCIT:C26842 NCIT:C2990 digestive system disorder MONDO:0002358 laryngeal carcinoma MONDO:0002352 NCIT:C4855 NCIT:C7484 larynx cancer MONDO:0002359 periosteal chondroma MONDO:0000631 NCIT:C4302 NCIT:C4880 bone benign neoplasm MONDO:0002359 periosteal chondroma MONDO:0002360 NCIT:C4302 NCIT:C53459 chondroma @@ -736,6 +459,7 @@ MONDO:0002387 liver angiosarcoma MONDO:0002405 NCIT:C4438 NCIT:C35442 hepatic va MONDO:0002395 renal adenoma MONDO:0002513 NCIT:C8383 NCIT:C4778 kidney benign neoplasm MONDO:0002395 renal adenoma MONDO:0004972 NCIT:C8383 NCIT:C2855 adenoma MONDO:0002396 nephrogenic adenofibroma MONDO:0021045 NCIT:C39812 NCIT:C3743 fibroepithelial neoplasm +MONDO:0002397 liver sarcoma MONDO:0002691 NCIT:C4437 NCIT:C34803 liver cancer MONDO:0002398 mucinous adenofibroma MONDO:0006071 NCIT:C8978 NCIT:C8984 adenofibroma MONDO:0002398 mucinous adenofibroma MONDO:0024338 NCIT:C8978 NCIT:C7070 mucinous neoplasm MONDO:0002399 tenosynovial giant cell tumor, localized type MONDO:0002522 NCIT:C6532 NCIT:C3402 tenosynovial giant cell tumor @@ -746,21 +470,15 @@ MONDO:0002401 malignant tenosynovial giant cell tumor MONDO:0002522 NCIT:C6535 N MONDO:0002402 malignant giant cell tumor MONDO:0004992 NCIT:C4090 NCIT:C9305 cancer MONDO:0002403 synovium cancer MONDO:0002528 NCIT:C6531 NCIT:C8964 synovium neoplasm MONDO:0002404 liver hemangioma MONDO:0002337 NCIT:C3869 NCIT:C3635 intra-abdominal hemangioma -MONDO:0002405 hepatic vascular disorder MONDO:0005154 NCIT:C35442 NCIT:C3196 liver disorder -MONDO:0002405 hepatic vascular disorder MONDO:0005385 NCIT:C35442 NCIT:C35117 vascular disorder MONDO:0002407 capillary hemangioma MONDO:0006500 NCIT:C7457 NCIT:C3085 hemangioma -MONDO:0002411 narcissistic personality disorder MONDO:0002028 NCIT:C92635 NCIT:C34922 personality disorder -MONDO:0002413 glycogen storage disease I MONDO:0002412 NCIT:C84733 NCIT:C61272 disorder of glycogen metabolism MONDO:0002414 gastric hemangioma MONDO:0002337 NCIT:C5481 NCIT:C3635 intra-abdominal hemangioma MONDO:0002416 ethmoid sinus squamous cell carcinoma MONDO:0001763 NCIT:C6065 NCIT:C3541 ethmoid sinus cancer MONDO:0002416 ethmoid sinus squamous cell carcinoma MONDO:0044705 NCIT:C6065 NCIT:C8193 paranasal sinus squamous cell carcinoma MONDO:0002418 ethmoid sinus adenocarcinoma MONDO:0001763 NCIT:C6237 NCIT:C3541 ethmoid sinus cancer -MONDO:0002419 transient tic disorder MONDO:0005395 NCIT:C116767 NCIT:C116757 movement disorder MONDO:0002424 rectosigmoid carcinoma MONDO:0002425 NCIT:C7421 NCIT:C7420 rectosigmoid junction cancer MONDO:0002425 rectosigmoid junction cancer MONDO:0002423 NCIT:C7420 NCIT:C4877 rectosigmoid junction neoplasm MONDO:0002426 lung sarcoma MONDO:0008903 NCIT:C4860 NCIT:C7377 lung cancer MONDO:0002426 lung sarcoma MONDO:0018078 NCIT:C4860 NCIT:C9306 soft tissue sarcoma -MONDO:0002428 protozoa infectious disease MONDO:0005135 NCIT:C34953 NCIT:C27864 parasitic infectious disease MONDO:0002432 malignant neoplasm of acoustic nerve MONDO:0002433 NCIT:C4539 NCIT:C3571 malignant cranial nerve neoplasm MONDO:0002432 malignant neoplasm of acoustic nerve MONDO:0021221 NCIT:C4539 NCIT:C5120 vestibulocochlear nerve neoplasm MONDO:0002433 malignant cranial nerve neoplasm MONDO:0002633 NCIT:C3571 NCIT:C2963 cranial nerve neoplasm @@ -768,8 +486,6 @@ MONDO:0002434 oculomotor nerve cancer MONDO:0002433 NCIT:C6995 NCIT:C3571 malign MONDO:0002434 oculomotor nerve cancer MONDO:0002435 NCIT:C6995 NCIT:C6994 oculomotor nerve neoplasm MONDO:0002435 oculomotor nerve neoplasm MONDO:0002633 NCIT:C6994 NCIT:C2963 cranial nerve neoplasm MONDO:0002435 oculomotor nerve neoplasm MONDO:0003546 NCIT:C6994 NCIT:C27598 third cranial nerve disorder -MONDO:0002442 long QT syndrome MONDO:0002254 NCIT:C34786 NCIT:C28193 syndromic disease -MONDO:0002444 melancholia MONDO:0002050 NCIT:C34812 NCIT:C2982 depressive disorder MONDO:0002447 endometrial carcinoma MONDO:0011962 NCIT:C7558 NCIT:C27815 endometrial cancer MONDO:0002448 laryngeal sarcoma MONDO:0002352 NCIT:C6020 NCIT:C7484 larynx cancer MONDO:0002450 prostatic adenoma MONDO:0004972 NCIT:C4795 NCIT:C2855 adenoma @@ -781,15 +497,10 @@ MONDO:0002451 benign prostate phyllodes tumor MONDO:0037002 NCIT:C5532 NCIT:C427 MONDO:0002452 prostate leiomyoma MONDO:0001572 NCIT:C5544 NCIT:C3157 leiomyoma MONDO:0002452 prostate leiomyoma MONDO:0021510 NCIT:C5544 NCIT:C3613 benign neoplasm of prostate MONDO:0002455 exocervical carcinoma MONDO:0005131 NCIT:C7453 NCIT:C9039 cervical carcinoma -MONDO:0002457 Treacher-Collins syndrome MONDO:0002254 NCIT:C75018 NCIT:C28193 syndromic disease -MONDO:0002459 type IV hypersensitivity disease MONDO:0000605 NCIT:C3115 NCIT:C3114 hypersensitivity reaction disease MONDO:0002460 lacrimal system cancer MONDO:0001854 NCIT:C5102 NCIT:C26809 lacrimal apparatus disorder -MONDO:0002461 membranoproliferative glomerulonephritis MONDO:0002462 NCIT:C34644 NCIT:C26784 glomerulonephritis -MONDO:0002462 glomerulonephritis MONDO:0001166 NCIT:C26784 NCIT:C26833 nephritis MONDO:0002463 lacrimal gland carcinoma MONDO:0002464 NCIT:C6129 NCIT:C3563 lacrimal gland cancer MONDO:0002464 lacrimal gland cancer MONDO:0021222 NCIT:C3563 NCIT:C4360 lacrimal gland neoplasm MONDO:0002466 eye carcinoma MONDO:0002236 NCIT:C6079 NCIT:C4767 ocular cancer -MONDO:0002467 inner ear disorder MONDO:0021205 NCIT:C27166 NCIT:C26757 disorder of ear MONDO:0002469 lacrimal gland carcinoma ex pleomorphic adenoma MONDO:0002463 NCIT:C6804 NCIT:C6129 lacrimal gland carcinoma MONDO:0002469 lacrimal gland carcinoma ex pleomorphic adenoma MONDO:0002472 NCIT:C6804 NCIT:C4397 carcinoma ex pleomorphic adenoma MONDO:0002472 carcinoma ex pleomorphic adenoma MONDO:0005853 NCIT:C4397 NCIT:C3729 malignant mixed neoplasm @@ -811,10 +522,8 @@ MONDO:0002489 malignant breast phyllodes tumor MONDO:0021047 NCIT:C4504 NCIT:C75 MONDO:0002489 malignant breast phyllodes tumor MONDO:0037003 NCIT:C4504 NCIT:C4275 malignant phyllodes tumor MONDO:0002490 breast sarcoma MONDO:0007254 NCIT:C4670 NCIT:C9335 breast cancer MONDO:0002490 breast sarcoma MONDO:0018078 NCIT:C4670 NCIT:C9306 soft tissue sarcoma -MONDO:0002492 acute kidney failure MONDO:0001106 NCIT:C26808 NCIT:C4376 kidney failure MONDO:0002493 prostatic acinar adenocarcinoma MONDO:0004965 NCIT:C5596 NCIT:C3768 acinar cell carcinoma MONDO:0002493 prostatic acinar adenocarcinoma MONDO:0005082 NCIT:C5596 NCIT:C2919 prostate adenocarcinoma -MONDO:0002494 substance-related disorder MONDO:0002025 NCIT:C92203 NCIT:C2893 psychiatric disorder MONDO:0002495 colon signet ring cell adenocarcinoma MONDO:0002271 NCIT:C7967 NCIT:C4349 colon adenocarcinoma MONDO:0002495 colon signet ring cell adenocarcinoma MONDO:0044336 NCIT:C7967 NCIT:C43586 colorectal signet ring cell carcinoma MONDO:0002496 submucosal invasive colon adenocarcinoma MONDO:0002271 NCIT:C38760 NCIT:C4349 colon adenocarcinoma @@ -822,21 +531,18 @@ MONDO:0002496 submucosal invasive colon adenocarcinoma MONDO:0040677 NCIT:C38760 MONDO:0002501 brain glioblastoma MONDO:0018177 NCIT:C4642 NCIT:C3058 glioblastoma MONDO:0002503 adult astrocytic tumor MONDO:0021636 NCIT:C7049 NCIT:C6958 astrocytic tumor MONDO:0002505 childhood astrocytic tumor MONDO:0021636 NCIT:C9022 NCIT:C6958 astrocytic tumor -MONDO:0002509 non-specific granulomatous orchitis MONDO:0006882 NCIT:C27162 NCIT:C97145 orchitis MONDO:0002512 papillary adenocarcinoma MONDO:0004970 NCIT:C2853 NCIT:C2852 adenocarcinoma MONDO:0002512 papillary adenocarcinoma MONDO:0006509 NCIT:C2853 NCIT:C2927 papillary carcinoma MONDO:0002513 kidney benign neoplasm MONDO:0004180 NCIT:C4778 NCIT:C4893 benign urinary system neoplasm MONDO:0002513 kidney benign neoplasm MONDO:0021163 NCIT:C4778 NCIT:C3150 kidney neoplasm MONDO:0002514 hepatobiliary neoplasm MONDO:0002515 NCIT:C8614 NCIT:C3959 hepatobiliary disorder MONDO:0002514 hepatobiliary neoplasm MONDO:0021223 NCIT:C8614 NCIT:C3052 digestive system neoplasm -MONDO:0002515 hepatobiliary disorder MONDO:0004335 NCIT:C3959 NCIT:C2990 digestive system disorder MONDO:0002516 digestive system cancer MONDO:0004992 NCIT:C4890 NCIT:C9305 cancer MONDO:0002516 digestive system cancer MONDO:0021223 NCIT:C4890 NCIT:C3052 digestive system neoplasm MONDO:0002518 gallbladder papillary neoplasm MONDO:0021096 NCIT:C7130 NCIT:C8429 papillary epithelial neoplasm MONDO:0002518 gallbladder papillary neoplasm MONDO:0021253 NCIT:C7130 NCIT:C3048 gallbladder neoplasm MONDO:0002522 tenosynovial giant cell tumor MONDO:0002171 NCIT:C3402 NCIT:C3055 giant cell tumor MONDO:0002522 tenosynovial giant cell tumor MONDO:0002528 NCIT:C3402 NCIT:C8964 synovium neoplasm -MONDO:0002525 inherited lipid metabolism disorder MONDO:0019052 NCIT:C97092 NCIT:C34816 inborn errors of metabolism MONDO:0002528 synovium neoplasm MONDO:0006424 NCIT:C8964 NCIT:C3377 soft tissue neoplasm MONDO:0002529 skin squamous cell carcinoma MONDO:0002656 NCIT:C4819 NCIT:C4914 skin carcinoma MONDO:0002529 skin squamous cell carcinoma MONDO:0005096 NCIT:C4819 NCIT:C2929 squamous cell carcinoma @@ -854,7 +560,6 @@ MONDO:0002541 spinal cord oligodendroglioma MONDO:0002542 NCIT:C4535 NCIT:C4534 MONDO:0002541 spinal cord oligodendroglioma MONDO:0016695 NCIT:C4535 NCIT:C3288 oligodendroglioma MONDO:0002543 adult oligodendroglioma MONDO:0016695 NCIT:C4014 NCIT:C3288 oligodendroglioma MONDO:0002544 brain oligodendroglioma MONDO:0016695 NCIT:C9377 NCIT:C3288 oligodendroglioma -MONDO:0002545 spinal cord disorder MONDO:0002602 NCIT:C97110 NCIT:C2934 central nervous system disorder MONDO:0002546 schwannoma MONDO:0002547 NCIT:C3269 NCIT:C4972 nerve sheath neoplasm MONDO:0002548 cellular schwannoma MONDO:0002546 NCIT:C4724 NCIT:C3269 schwannoma MONDO:0002549 schwannoma of twelfth cranial nerve MONDO:0002546 NCIT:C5434 NCIT:C3269 schwannoma @@ -866,13 +571,11 @@ MONDO:0002555 trigeminal schwannoma MONDO:0001420 NCIT:C4655 NCIT:C5122 trigemin MONDO:0002555 trigeminal schwannoma MONDO:0002546 NCIT:C4655 NCIT:C3269 schwannoma MONDO:0002556 microcystic/reticular schwannoma MONDO:0002546 NCIT:C5321 NCIT:C3269 schwannoma MONDO:0002559 plexiform schwannoma MONDO:0002546 NCIT:C6969 NCIT:C3269 schwannoma -MONDO:0002561 lysosomal storage disease MONDO:0019052 NCIT:C61250 NCIT:C34816 inborn errors of metabolism MONDO:0002563 jejunal somatostatinoma MONDO:0015064 NCIT:C5787 NCIT:C135090 jejunal neuroendocrine tumor, well differentiated, low or intermediate grade MONDO:0002564 jejunal neoplasm MONDO:0004251 NCIT:C8401 NCIT:C4432 small intestine neoplasm MONDO:0002571 primary central nervous system lymphoma MONDO:0002714 NCIT:C9301 NCIT:C4627 central nervous system cancer MONDO:0002571 primary central nervous system lymphoma MONDO:0003641 NCIT:C9301 NCIT:C5503 central nervous system hematopoietic neoplasm MONDO:0002571 primary central nervous system lymphoma MONDO:0017207 NCIT:C9301 NCIT:C7185 primary organ-specific lymphoma -MONDO:0002572 aspiration pneumonitis MONDO:0043905 NCIT:C34932 NCIT:C113159 pneumonitis MONDO:0002574 prostate embryonal rhabdomyosarcoma MONDO:0006389 NCIT:C5525 NCIT:C5522 prostate rhabdomyosarcoma MONDO:0002574 prostate embryonal rhabdomyosarcoma MONDO:0009993 NCIT:C5525 NCIT:C8971 embryonal rhabdomyosarcoma MONDO:0002576 embryonal extrahepatic bile duct rhabdomyosarcoma MONDO:0002577 NCIT:C5847 NCIT:C5860 extrahepatic bile duct rhabdomyosarcoma @@ -885,7 +588,6 @@ MONDO:0002580 orbit rhabdomyosarcoma MONDO:0004943 NCIT:C4543 NCIT:C6095 orbit s MONDO:0002580 orbit rhabdomyosarcoma MONDO:0005212 NCIT:C4543 NCIT:C3359 rhabdomyosarcoma MONDO:0002583 mucinous ovarian cystadenoma MONDO:0005183 NCIT:C4512 NCIT:C4060 ovarian cystadenoma MONDO:0002583 mucinous ovarian cystadenoma MONDO:0006859 NCIT:C4512 NCIT:C2973 mucinous cystadenoma -MONDO:0002585 breast fibrocystic change, proliferative type MONDO:0005219 NCIT:C6940 NCIT:C3039 breast fibrocystic disease MONDO:0002586 thymus cancer MONDO:0005197 NCIT:C4962 NCIT:C3412 thymus neoplasm MONDO:0002587 encapsulated thymoma MONDO:0006456 NCIT:C7386 NCIT:C3411 thymoma MONDO:0002588 thymoma type A MONDO:0006456 NCIT:C6454 NCIT:C3411 thymoma @@ -893,12 +595,10 @@ MONDO:0002597 notochordal tumor MONDO:0005564 NCIT:C7063 NCIT:C3264 embryonal ne MONDO:0002597 notochordal tumor MONDO:0019060 NCIT:C7063 NCIT:C9343 bone neoplasm MONDO:0002599 teratocarcinoma MONDO:0015864 NCIT:C3756 NCIT:C4290 mixed germ cell tumor MONDO:0002601 teratoma MONDO:0021656 NCIT:C3403 NCIT:C121619 nongerminomatous germ cell tumor -MONDO:0002602 central nervous system disorder MONDO:0005071 NCIT:C2934 NCIT:C26835 nervous system disorder MONDO:0002603 angiomyolipoma MONDO:0006359 NCIT:C3734 NCIT:C38150 neoplasm with perivascular epithelioid cell differentiation MONDO:0002604 pericytic neoplasm MONDO:0002616 NCIT:C6528 NCIT:C7059 mesenchymal cell neoplasm MONDO:0002605 hepatic angiomyolipoma MONDO:0002603 NCIT:C27485 NCIT:C3734 angiomyolipoma MONDO:0002606 epithelioid type angiomyolipoma MONDO:0002603 NCIT:C38151 NCIT:C3734 angiomyolipoma -MONDO:0002613 histrionic personality disorder MONDO:0002028 NCIT:C92634 NCIT:C34922 personality disorder MONDO:0002617 bone angiosarcoma MONDO:0016982 NCIT:C6479 NCIT:C3088 angiosarcoma MONDO:0002617 bone angiosarcoma MONDO:0021054 NCIT:C6479 NCIT:C9312 bone sarcoma MONDO:0002617 bone angiosarcoma MONDO:0024499 NCIT:C6479 NCIT:C6478 vascular bone neoplasm @@ -908,7 +608,6 @@ MONDO:0002619 bone fibrosarcoma MONDO:0021054 NCIT:C6604 NCIT:C9312 bone sarcoma MONDO:0002620 localized osteosarcoma MONDO:0009807 NCIT:C7780 NCIT:C9145 osteosarcoma MONDO:0002621 extraosseous osteosarcoma MONDO:0009807 NCIT:C8810 NCIT:C9145 osteosarcoma MONDO:0002621 extraosseous osteosarcoma MONDO:0018078 NCIT:C8810 NCIT:C9306 soft tissue sarcoma -MONDO:0002623 pediatric osteosarcoma MONDO:0006517 NCIT:C6585 NCIT:C4005 childhood malignant neoplasm MONDO:0002623 pediatric osteosarcoma MONDO:0009807 NCIT:C6585 NCIT:C9145 osteosarcoma MONDO:0002624 bone leiomyosarcoma MONDO:0005058 NCIT:C7154 NCIT:C3158 leiomyosarcoma MONDO:0002624 bone leiomyosarcoma MONDO:0021054 NCIT:C7154 NCIT:C9312 bone sarcoma @@ -925,15 +624,12 @@ MONDO:0002632 metachronous osteosarcoma of the bone MONDO:0002629 NCIT:C38157 NC MONDO:0002633 cranial nerve neoplasm MONDO:0003569 NCIT:C2963 NCIT:C26733 cranial nerve neuropathy MONDO:0002634 liposarcoma of bone MONDO:0005060 NCIT:C7598 NCIT:C3194 liposarcoma MONDO:0002634 liposarcoma of bone MONDO:0021054 NCIT:C7598 NCIT:C9312 bone sarcoma -MONDO:0002636 accessory nerve disorder MONDO:0003569 NCIT:C26953 NCIT:C26733 cranial nerve neuropathy MONDO:0002638 glossopharyngeal nerve neoplasm MONDO:0002633 NCIT:C5828 NCIT:C2963 cranial nerve neoplasm MONDO:0002638 glossopharyngeal nerve neoplasm MONDO:0002639 NCIT:C5828 NCIT:C27211 glossopharyngeal nerve disorder -MONDO:0002639 glossopharyngeal nerve disorder MONDO:0003569 NCIT:C27211 NCIT:C26733 cranial nerve neuropathy MONDO:0002640 optic nerve neoplasm MONDO:0002135 NCIT:C4801 NCIT:C79698 optic nerve disorder MONDO:0002640 optic nerve neoplasm MONDO:0002633 NCIT:C4801 NCIT:C2963 cranial nerve neoplasm MONDO:0002642 trochlear nerve neoplasm MONDO:0002633 NCIT:C5825 NCIT:C2963 cranial nerve neoplasm MONDO:0002642 trochlear nerve neoplasm MONDO:0007002 NCIT:C5825 NCIT:C78395 trochlear nerve disorder -MONDO:0002644 idiopathic granulomatous myositis MONDO:0021167 NCIT:C27575 NCIT:C27578 myositis disease MONDO:0002648 mammary Paget disease MONDO:0004988 NCIT:C47857 NCIT:C5214 breast adenocarcinoma MONDO:0002648 mammary Paget disease MONDO:0021165 NCIT:C47857 NCIT:C7073 Paget disease MONDO:0002649 scrotum Paget disease MONDO:0002650 NCIT:C7728 NCIT:C6389 scrotal carcinoma @@ -943,7 +639,6 @@ MONDO:0002651 anal Paget disease MONDO:0008177 NCIT:C5598 NCIT:C3302 extramammar MONDO:0002652 anus adenocarcinoma MONDO:0003199 NCIT:C5600 NCIT:C9291 anal carcinoma MONDO:0002653 Paget disease of the penis MONDO:0006360 NCIT:C27817 NCIT:C9061 penile carcinoma MONDO:0002653 Paget disease of the penis MONDO:0008177 NCIT:C27817 NCIT:C3302 extramammary Paget disease -MONDO:0002654 uterine disorder MONDO:0002263 NCIT:C26907 NCIT:C27020 female reproductive system disorder MONDO:0002656 skin carcinoma MONDO:0002898 NCIT:C4914 NCIT:C2920 skin cancer MONDO:0002656 skin carcinoma MONDO:0004993 NCIT:C4914 NCIT:C2916 carcinoma MONDO:0002656 skin carcinoma MONDO:0021634 NCIT:C4914 NCIT:C7342 epithelial skin neoplasm @@ -951,7 +646,6 @@ MONDO:0002658 iris cancer MONDO:0002659 NCIT:C4554 NCIT:C6105 uveal cancer MONDO:0002658 iris cancer MONDO:0021224 NCIT:C4554 NCIT:C3142 iris neoplasm MONDO:0002659 uveal cancer MONDO:0002236 NCIT:C6105 NCIT:C4767 ocular cancer MONDO:0002659 uveal cancer MONDO:0021225 NCIT:C6105 NCIT:C3436 uvea neoplasm -MONDO:0002661 uveal disorder MONDO:0005328 NCIT:C26908 NCIT:C26767 eye disorder MONDO:0002664 extrahepatic bile duct signet ring cell carcinoma MONDO:0002665 NCIT:C5776 NCIT:C7975 extrahepatic bile duct adenocarcinoma MONDO:0002664 extrahepatic bile duct signet ring cell carcinoma MONDO:0005092 NCIT:C5776 NCIT:C3774 signet ring cell carcinoma MONDO:0002665 extrahepatic bile duct adenocarcinoma MONDO:0003090 NCIT:C7975 NCIT:C3860 extrahepatic bile duct carcinoma @@ -968,15 +662,12 @@ MONDO:0002672 acinar prostate adenocarcinoma, signet ring variant MONDO:0002493 MONDO:0002672 acinar prostate adenocarcinoma, signet ring variant MONDO:0005092 NCIT:C5535 NCIT:C3774 signet ring cell carcinoma MONDO:0002677 conventional fibrosarcoma MONDO:0005164 NCIT:C9429 NCIT:C3043 fibrosarcoma MONDO:0002678 pediatric fibrosarcoma MONDO:0005164 NCIT:C8088 NCIT:C3043 fibrosarcoma -MONDO:0002678 pediatric fibrosarcoma MONDO:0006517 NCIT:C8088 NCIT:C4005 childhood malignant neoplasm MONDO:0002681 choroid plexus cancer MONDO:0016717 NCIT:C4533 NCIT:C3473 choroid plexus neoplasm MONDO:0002683 adult choroid plexus neoplasm MONDO:0016717 NCIT:C8568 NCIT:C3473 choroid plexus neoplasm MONDO:0002684 atypical choroid plexus papilloma MONDO:0016717 NCIT:C53686 NCIT:C3473 choroid plexus neoplasm MONDO:0002685 childhood choroid plexus carcinoma MONDO:0002071 NCIT:C124292 NCIT:C4964 supratentorial cancer MONDO:0002685 childhood choroid plexus carcinoma MONDO:0016718 NCIT:C124292 NCIT:C4715 choroid plexus carcinoma MONDO:0002685 childhood choroid plexus carcinoma MONDO:0024744 NCIT:C124292 NCIT:C42080 childhood choroid plexus neoplasm -MONDO:0002687 superior mesenteric artery syndrome MONDO:0002254 NCIT:C85175 NCIT:C28193 syndromic disease -MONDO:0002691 liver cancer MONDO:0024477 NCIT:C34803 NCIT:C7103 liver and intrahepatic bile duct neoplasm MONDO:0002696 Sertoli cell tumor MONDO:0006055 NCIT:C39976 NCIT:C3794 sex cord-stromal tumor MONDO:0002697 ovarian gonadoblastoma MONDO:0010768 NCIT:C39985 NCIT:C3754 gonadoblastoma MONDO:0002698 testicular gonadoblastoma MONDO:0010768 NCIT:C39911 NCIT:C3754 gonadoblastoma @@ -989,7 +680,6 @@ MONDO:0002703 appendix mucinous cystadenocarcinoma MONDO:0005858 NCIT:C5511 NCIT MONDO:0002703 appendix mucinous cystadenocarcinoma MONDO:0018330 NCIT:C5511 NCIT:C43558 mucinous adenocarcinoma of the appendix MONDO:0002705 breast mucinous cystadenocarcinoma MONDO:0004988 NCIT:C40354 NCIT:C5214 breast adenocarcinoma MONDO:0002705 breast mucinous cystadenocarcinoma MONDO:0005858 NCIT:C40354 NCIT:C3776 mucinous cystadenocarcinoma -MONDO:0002706 cervix endometriosis MONDO:0005133 NCIT:C27623 NCIT:C3014 endometriosis MONDO:0002707 breast mucinous carcinoma MONDO:0004957 NCIT:C9131 NCIT:C26712 mucinous adenocarcinoma MONDO:0002710 infiltrating angiolipoma MONDO:0006085 NCIT:C7449 NCIT:C3733 angiolipoma MONDO:0002712 epidural spinal canal angiolipoma MONDO:0002713 NCIT:C5424 NCIT:C3019 epidural spinal canal neoplasm @@ -999,17 +689,14 @@ MONDO:0002715 uterine cancer MONDO:0001416 NCIT:C3552 NCIT:C4913 female reproduc MONDO:0002715 uterine cancer MONDO:0021353 NCIT:C3552 NCIT:C3435 tumor of uterus MONDO:0002716 childhood spinal cord tumor MONDO:0021234 NCIT:C9234 NCIT:C3381 spinal cord neoplasm MONDO:0002717 spinal cord intramedullary teratoma MONDO:0002718 NCIT:C5428 NCIT:C5441 central nervous system teratoma -MONDO:0002718 central nervous system teratoma MONDO:0002601 NCIT:C5441 NCIT:C3403 teratoma MONDO:0002718 central nervous system teratoma MONDO:0020574 NCIT:C5441 NCIT:C100093 central nervous system nongerminomatous germ cell tumor MONDO:0002719 conus medullaris neoplasm MONDO:0021234 NCIT:C5443 NCIT:C3381 spinal cord neoplasm MONDO:0002720 sella turcica neoplasm MONDO:0002785 NCIT:C4944 NCIT:C4676 skull base neoplasm MONDO:0002722 olfactory nerve neoplasm MONDO:0002633 NCIT:C5121 NCIT:C2963 cranial nerve neoplasm MONDO:0002722 olfactory nerve neoplasm MONDO:0002727 NCIT:C5121 NCIT:C27210 olfactory nerve disorder MONDO:0002724 mast cell neoplasm MONDO:0005170 NCIT:C9295 NCIT:C9290 myeloid neoplasm -MONDO:0002727 olfactory nerve disorder MONDO:0003569 NCIT:C27210 NCIT:C26733 cranial nerve neuropathy MONDO:0002728 rhabdoid tumor MONDO:0005564 NCIT:C3808 NCIT:C3264 embryonal neoplasm MONDO:0002729 rhabdoid tumor of the kidney MONDO:0002728 NCIT:C8715 NCIT:C3808 rhabdoid tumor -MONDO:0002730 childhood kidney neoplasm MONDO:0021079 NCIT:C6563 NCIT:C6283 childhood neoplasm MONDO:0002730 childhood kidney neoplasm MONDO:0021163 NCIT:C6563 NCIT:C3150 kidney neoplasm MONDO:0002731 cerebral hemisphere cancer MONDO:0002071 NCIT:C4577 NCIT:C4964 supratentorial cancer MONDO:0002731 cerebral hemisphere cancer MONDO:0021374 NCIT:C4577 NCIT:C4874 neoplasm of cerebral hemisphere @@ -1034,7 +721,6 @@ MONDO:0002747 endometrial mucinous adenocarcinoma MONDO:0004957 NCIT:C40144 NCIT MONDO:0002748 rectum mucinous adenocarcinoma MONDO:0002169 NCIT:C7973 NCIT:C9383 rectum adenocarcinoma MONDO:0002749 extracranial neuroblastoma MONDO:0005072 NCIT:C5437 NCIT:C3270 neuroblastoma MONDO:0002750 bladder colloid adenocarcinoma MONDO:0002751 NCIT:C39837 NCIT:C4032 bladder adenocarcinoma -MONDO:0002751 bladder adenocarcinoma MONDO:0004970 NCIT:C4032 NCIT:C2852 adenocarcinoma MONDO:0002751 bladder adenocarcinoma MONDO:0004986 NCIT:C4032 NCIT:C4912 urinary bladder carcinoma MONDO:0002752 ovarian adenocarcinoma MONDO:0004970 NCIT:C7700 NCIT:C2852 adenocarcinoma MONDO:0002752 ovarian adenocarcinoma MONDO:0005140 NCIT:C7700 NCIT:C4908 ovarian carcinoma @@ -1044,7 +730,6 @@ MONDO:0002758 vulva verrucous carcinoma MONDO:0024609 NCIT:C6383 NCIT:C4052 vulv MONDO:0002759 bladder verrucous carcinoma MONDO:0002760 NCIT:C39832 NCIT:C4031 bladder squamous cell carcinoma MONDO:0002759 bladder verrucous carcinoma MONDO:0006006 NCIT:C39832 NCIT:C3781 verrucous carcinoma MONDO:0002760 bladder squamous cell carcinoma MONDO:0004986 NCIT:C4031 NCIT:C4912 urinary bladder carcinoma -MONDO:0002760 bladder squamous cell carcinoma MONDO:0005096 NCIT:C4031 NCIT:C2929 squamous cell carcinoma MONDO:0002761 cervical verrucous carcinoma MONDO:0006006 NCIT:C40190 NCIT:C3781 verrucous carcinoma MONDO:0002761 cervical verrucous carcinoma MONDO:0006143 NCIT:C40190 NCIT:C4028 cervical squamous cell carcinoma MONDO:0002762 esophagus verrucous carcinoma MONDO:0005580 NCIT:C27420 NCIT:C4024 esophageal squamous cell carcinoma @@ -1056,12 +741,10 @@ MONDO:0002764 urethra squamous cell carcinoma MONDO:0021327 NCIT:C6165 NCIT:C910 MONDO:0002766 larynx verrucous carcinoma MONDO:0005595 NCIT:C8188 NCIT:C4044 laryngeal squamous cell carcinoma MONDO:0002766 larynx verrucous carcinoma MONDO:0006006 NCIT:C8188 NCIT:C3781 verrucous carcinoma MONDO:0002772 intraventricular meningioma MONDO:0002682 NCIT:C5273 NCIT:C2937 cerebral ventricle cancer -MONDO:0002776 external ear disorder MONDO:0021205 NCIT:C26972 NCIT:C26757 disorder of ear MONDO:0002778 epidural spinal canal meningioma MONDO:0001279 NCIT:C5310 NCIT:C5134 intraspinal meningioma MONDO:0002779 central nervous system chondroma MONDO:0006423 NCIT:C7001 NCIT:C9482 soft tissue chondroma MONDO:0002781 glossopharyngeal nerve paralysis MONDO:0002639 NCIT:C27335 NCIT:C27211 glossopharyngeal nerve disorder MONDO:0002781 glossopharyngeal nerve paralysis MONDO:0002782 NCIT:C27335 NCIT:C26941 cranial nerve palsy -MONDO:0002782 cranial nerve palsy MONDO:0003569 NCIT:C26941 NCIT:C26733 cranial nerve neuropathy MONDO:0002785 skull base neoplasm MONDO:0024653 NCIT:C4676 NCIT:C3375 skull neoplasm MONDO:0002786 diencephalic cancer MONDO:0002071 NCIT:C5126 NCIT:C4964 supratentorial cancer MONDO:0002787 adamantinous craniopharyngioma MONDO:0018907 NCIT:C4726 NCIT:C2964 craniopharyngioma @@ -1075,14 +758,12 @@ MONDO:0002796 melanotic medulloblastoma MONDO:0007959 NCIT:C9497 NCIT:C3222 medu MONDO:0002797 childhood medulloblastoma MONDO:0003263 NCIT:C3997 NCIT:C5970 childhood cerebellar neoplasm MONDO:0002797 childhood medulloblastoma MONDO:0007959 NCIT:C3997 NCIT:C3222 medulloblastoma MONDO:0002798 childhood central nervous system primitive neuroectodermal neoplasm MONDO:0000640 NCIT:C5961 NCIT:C5398 central nervous system primitive neuroectodermal neoplasm -MONDO:0002800 thrombophlebitis MONDO:0004625 NCIT:C3410 NCIT:C38003 phlebitis MONDO:0002805 hidradenoma MONDO:0021110 NCIT:C7563 NCIT:C7560 sweat gland adenoma MONDO:0002806 bronchogenic carcinoma MONDO:0005138 NCIT:C35875 NCIT:C4878 lung carcinoma MONDO:0002808 pancreatic serous cystadenoma MONDO:0002809 NCIT:C5712 NCIT:C4374 pancreatic cystadenoma MONDO:0002808 pancreatic serous cystadenoma MONDO:0005177 NCIT:C5712 NCIT:C3783 serous cystadenoma MONDO:0002809 pancreatic cystadenoma MONDO:0002369 NCIT:C4374 NCIT:C2972 cystadenoma MONDO:0002810 pancreatic serous cystic neoplasm MONDO:0021076 NCIT:C41248 NCIT:C4445 pancreatic exocrine neoplasm -MONDO:0002815 acute myocarditis MONDO:0004496 NCIT:C35206 NCIT:C34831 myocarditis MONDO:0002817 adrenal gland cancer MONDO:0005941 NCIT:C9338 NCIT:C3537 retroperitoneal cancer MONDO:0002817 adrenal gland cancer MONDO:0021227 NCIT:C9338 NCIT:C2859 adrenal gland neoplasm MONDO:0002822 trabecular adenocarcinoma MONDO:0004970 NCIT:C4068 NCIT:C2852 adenocarcinoma @@ -1100,14 +781,6 @@ MONDO:0002836 urethra transitional cell carcinoma MONDO:0021327 NCIT:C6166 NCIT: MONDO:0002836 urethra transitional cell carcinoma MONDO:0040679 NCIT:C6166 NCIT:C4030 urothelial carcinoma MONDO:0002837 sarcomatoid transitional cell carcinoma MONDO:0006406 NCIT:C4120 NCIT:C27004 sarcomatoid carcinoma MONDO:0002837 sarcomatoid transitional cell carcinoma MONDO:0006474 NCIT:C4120 NCIT:C2930 transitional cell carcinoma -MONDO:0002839 leather-bottle stomach MONDO:0045054 NCIT:C3190 NCIT:C8278 cancer-related condition -MONDO:0002840 eosinophilic gastritis MONDO:0004966 NCIT:C27052 NCIT:C26780 gastritis -MONDO:0002840 eosinophilic gastritis MONDO:0016129 NCIT:C27052 NCIT:C35330 eosinophilic gastroenteritis -MONDO:0002842 bacterial gastritis MONDO:0004966 NCIT:C27340 NCIT:C26780 gastritis -MONDO:0002843 fungal gastritis MONDO:0004966 NCIT:C27342 NCIT:C26780 gastritis -MONDO:0002844 lymphocytic gastritis MONDO:0004966 NCIT:C27051 NCIT:C26780 gastritis -MONDO:0002845 necrotizing gastritis MONDO:0004966 NCIT:C27329 NCIT:C26780 gastritis -MONDO:0002846 granulomatous gastritis MONDO:0004966 NCIT:C27348 NCIT:C26780 gastritis MONDO:0002847 skeletal muscle cancer MONDO:0002848 NCIT:C6516 NCIT:C6514 skeletal muscle neoplasm MONDO:0002847 skeletal muscle cancer MONDO:0005864 NCIT:C6516 NCIT:C4883 muscle cancer MONDO:0002849 liver rhabdomyosarcoma MONDO:0002397 NCIT:C5834 NCIT:C4437 liver sarcoma @@ -1136,9 +809,7 @@ MONDO:0002865 anus sarcoma MONDO:0001879 NCIT:C5611 NCIT:C7379 anus cancer MONDO:0002867 pancreatic cystadenocarcinoma MONDO:0005596 NCIT:C3874 NCIT:C2971 cystadenocarcinoma MONDO:0002867 pancreatic cystadenocarcinoma MONDO:0006047 NCIT:C3874 NCIT:C8294 pancreatic adenocarcinoma MONDO:0002868 bile duct mucinous cystic neoplasm with an associated invasive carcinoma MONDO:0003420 NCIT:C4130 NCIT:C4129 bile duct cystadenoma -MONDO:0002870 tricuspid valve insufficiency MONDO:0000471 NCIT:C50842 NCIT:C78649 tricuspid valve disorder MONDO:0002871 testicular trophoblastic tumor MONDO:0002872 NCIT:C39934 NCIT:C3422 trophoblastic neoplasm -MONDO:0002871 testicular trophoblastic tumor MONDO:0002874 NCIT:C39934 NCIT:C39915 testicular pure germ cell tumor MONDO:0002871 testicular trophoblastic tumor MONDO:0006447 NCIT:C39934 NCIT:C9313 testicular non-seminomatous germ cell tumor MONDO:0002874 testicular pure germ cell tumor MONDO:0010108 NCIT:C39915 NCIT:C8591 testicular germ cell tumor MONDO:0002876 cervical adenosarcoma MONDO:0005636 NCIT:C40229 NCIT:C9474 adenosarcoma @@ -1156,13 +827,9 @@ MONDO:0002888 intraorbital meningioma MONDO:0024611 NCIT:C6778 NCIT:C3290 orbit MONDO:0002889 orbital cancer MONDO:0024611 NCIT:C3562 NCIT:C3290 orbit neoplasm MONDO:0002892 skull base chordoma MONDO:0008978 NCIT:C5453 NCIT:C2947 chordoma MONDO:0002894 spinal chordoma MONDO:0008978 NCIT:C5156 NCIT:C2947 chordoma -MONDO:0002896 primary syphilis MONDO:0005976 NCIT:C128412 NCIT:C35055 syphilis -MONDO:0002897 secondary syphilis MONDO:0005976 NCIT:C128413 NCIT:C35055 syphilis MONDO:0002898 skin cancer MONDO:0002531 NCIT:C2920 NCIT:C3372 skin neoplasm MONDO:0002899 differentiating neuroblastoma MONDO:0005072 NCIT:C42048 NCIT:C3270 neuroblastoma -MONDO:0002900 cerebral neuroblastoma MONDO:0002731 NCIT:C4826 NCIT:C4577 cerebral hemisphere cancer MONDO:0002900 cerebral neuroblastoma MONDO:0005072 NCIT:C4826 NCIT:C3270 neuroblastoma -MONDO:0002903 articulation disorder MONDO:0004750 NCIT:C92564 NCIT:C97155 language disorder MONDO:0002912 brainstem cancer MONDO:0003107 NCIT:C3570 NCIT:C4966 infratentorial cancer MONDO:0002912 brainstem cancer MONDO:0021228 NCIT:C3570 NCIT:C4869 brainstem neoplasm MONDO:0002914 childhood brain stem neoplasm MONDO:0002915 NCIT:C5969 NCIT:C5802 childhood infratentorial neoplasm @@ -1204,7 +871,6 @@ MONDO:0002962 epidermolytic acanthoma MONDO:0002093 NCIT:C27516 NCIT:C7419 acant MONDO:0002963 acantholytic acanthoma MONDO:0002093 NCIT:C27517 NCIT:C7419 acanthoma MONDO:0002966 splenic manifestation of prolymphocytic leukemia MONDO:0001023 NCIT:C7297 NCIT:C3181 prolymphocytic leukemia MONDO:0002966 splenic manifestation of prolymphocytic leukemia MONDO:0004107 NCIT:C7297 NCIT:C7296 splenic manifestation of leukemia -MONDO:0002967 dermatophytosis of scalp or beard MONDO:0004678 NCIT:C34536 NCIT:C26745 dermatophytosis MONDO:0002969 ciliary body cancer MONDO:0021229 NCIT:C4766 NCIT:C4364 ciliary body neoplasm MONDO:0002971 amelanotic melanoma MONDO:0005105 NCIT:C3802 NCIT:C3224 melanoma MONDO:0002973 epithelioid cell melanoma MONDO:0005105 NCIT:C4236 NCIT:C3224 melanoma @@ -1212,7 +878,6 @@ MONDO:0002974 cervical cancer MONDO:0002715 NCIT:C9311 NCIT:C3552 uterine cancer MONDO:0002974 cervical cancer MONDO:0021230 NCIT:C9311 NCIT:C2940 uterine cervix neoplasm MONDO:0002975 malignant breast melanoma MONDO:0005105 NCIT:C8410 NCIT:C3224 melanoma MONDO:0002975 malignant breast melanoma MONDO:0007254 NCIT:C8410 NCIT:C9335 breast cancer -MONDO:0002977 autoimmune disorder of the nervous system MONDO:0007179 NCIT:C99383 NCIT:C2889 autoimmune disease MONDO:0002978 orbit alveolar rhabdomyosarcoma MONDO:0002580 NCIT:C6247 NCIT:C4543 orbit rhabdomyosarcoma MONDO:0002979 papillary squamous carcinoma MONDO:0005096 NCIT:C4102 NCIT:C2929 squamous cell carcinoma MONDO:0002979 papillary squamous carcinoma MONDO:0006509 NCIT:C4102 NCIT:C2927 papillary carcinoma @@ -1220,7 +885,6 @@ MONDO:0002981 peripheral primitive neuroectodermal tumor of bone MONDO:0018271 N MONDO:0002981 peripheral primitive neuroectodermal tumor of bone MONDO:0021123 NCIT:C8776 NCIT:C35871 Ewing sarcoma/peripheral primitive neuroectodermal tumor of bone MONDO:0002982 peripheral primitive neuroectodermal tumor of soft tissues MONDO:0018271 NCIT:C27471 NCIT:C9341 peripheral primitive neuroectodermal tumor MONDO:0002982 peripheral primitive neuroectodermal tumor of soft tissues MONDO:0021039 NCIT:C27471 NCIT:C27293 extraskeletal Ewing sarcoma/peripheral primitive neuroectodermal tumor -MONDO:0002987 spongiotic dermatitis MONDO:0002406 NCIT:C27037 NCIT:C2983 dermatitis MONDO:0002988 cervix melanoma MONDO:0002974 NCIT:C40239 NCIT:C9311 cervical cancer MONDO:0002989 benign fibrous histiocytoma MONDO:0005509 NCIT:C3739 NCIT:C35765 histiocytoma MONDO:0002990 benign deep fibrous histiocytoma MONDO:0002989 NCIT:C6492 NCIT:C3739 benign fibrous histiocytoma @@ -1233,15 +897,11 @@ MONDO:0003000 central nervous system germ cell tumor MONDO:0018201 NCIT:C5461 NC MONDO:0003001 seminoma MONDO:0006290 NCIT:C9309 NCIT:C4925 malignant germ cell tumor MONDO:0003001 seminoma MONDO:0020580 NCIT:C9309 NCIT:C121618 germinomatous germ cell tumor MONDO:0003003 cervical alveolar soft part sarcoma MONDO:0011655 NCIT:C40225 NCIT:C3750 alveolar soft part sarcoma -MONDO:0003004 macular degeneration MONDO:0004580 NCIT:C123330 NCIT:C34979 retinal degeneration MONDO:0003007 childhood kidney cell carcinoma MONDO:0005549 NCIT:C6568 NCIT:C9385 renal cell adenocarcinoma -MONDO:0003007 childhood kidney cell carcinoma MONDO:0036511 NCIT:C6568 NCIT:C123907 childhood malignant kidney neoplasm MONDO:0003008 hereditary renal cell carcinoma MONDO:0005549 NCIT:C39789 NCIT:C9385 renal cell adenocarcinoma MONDO:0003012 sarcomatoid renal cell carcinoma MONDO:0005549 NCIT:C27893 NCIT:C9385 renal cell adenocarcinoma MONDO:0003012 sarcomatoid renal cell carcinoma MONDO:0006406 NCIT:C27893 NCIT:C27004 sarcomatoid carcinoma -MONDO:0003019 potassium deficiency disease MONDO:0005137 NCIT:C34939 NCIT:C26836 nutritional disorder MONDO:0003021 central nervous system angiosarcoma MONDO:0002217 NCIT:C5450 NCIT:C5153 central nervous system sarcoma -MONDO:0003022 pediatric angiosarcoma MONDO:0006517 NCIT:C9174 NCIT:C4005 childhood malignant neoplasm MONDO:0003022 pediatric angiosarcoma MONDO:0016982 NCIT:C9174 NCIT:C3088 angiosarcoma MONDO:0003024 breast angiosarcoma MONDO:0002490 NCIT:C5184 NCIT:C4670 breast sarcoma MONDO:0003025 conventional angiosarcoma MONDO:0016982 NCIT:C9426 NCIT:C3088 angiosarcoma @@ -1256,13 +916,9 @@ MONDO:0003035 ovarian angiosarcoma MONDO:0002225 NCIT:C5232 NCIT:C8267 ovarian s MONDO:0003041 pediatric mesenchymal chondrosarcoma MONDO:0006853 NCIT:C27374 NCIT:C3737 mesenchymal chondrosarcoma MONDO:0003042 adult mesenchymal chondrosarcoma MONDO:0006853 NCIT:C27375 NCIT:C3737 mesenchymal chondrosarcoma MONDO:0003046 anus neoplasm MONDO:0002519 NCIT:C2877 NCIT:C26695 anus disorder -MONDO:0003047 thymic large cell neuroendocrine carcinoma MONDO:0005057 NCIT:C6461 NCIT:C6875 large cell neuroendocrine carcinoma MONDO:0003047 thymic large cell neuroendocrine carcinoma MONDO:0020516 NCIT:C6461 NCIT:C171031 thymic neuroendocrine carcinoma -MONDO:0003049 ovarian large-cell neuroendocrine carcinoma MONDO:0005057 NCIT:C5238 NCIT:C6875 large cell neuroendocrine carcinoma MONDO:0003050 lung large cell carcinoma MONDO:0005232 NCIT:C4450 NCIT:C3780 large cell carcinoma MONDO:0003050 lung large cell carcinoma MONDO:0005233 NCIT:C4450 NCIT:C2926 non-small cell lung carcinoma -MONDO:0003051 non specific chronic endometritis MONDO:0024279 NCIT:C27625 NCIT:C102820 chronic endometritis -MONDO:0003052 granulomatous endometritis MONDO:0024279 NCIT:C27626 NCIT:C102820 chronic endometritis MONDO:0003054 benign meningioma MONDO:0021527 NCIT:C4055 NCIT:C4957 benign neoplasm of meninges MONDO:0003057 pediatric meningioma MONDO:0016642 NCIT:C8264 NCIT:C3230 meningioma MONDO:0003061 benign muscle neoplasm MONDO:0021545 NCIT:C4882 NCIT:C4063 myomatous neoplasm @@ -1270,10 +926,6 @@ MONDO:0003062 intestinal benign neoplasm MONDO:0000385 NCIT:C4609 NCIT:C4787 ben MONDO:0003062 intestinal benign neoplasm MONDO:0021118 NCIT:C4609 NCIT:C3141 intestinal neoplasm MONDO:0003064 inverted transitional cell papilloma MONDO:0002537 NCIT:C4118 NCIT:C3793 inverted papilloma MONDO:0003064 inverted transitional cell papilloma MONDO:0005605 NCIT:C4118 NCIT:C4115 transitional cell papilloma -MONDO:0003067 cervical lymphadenitis MONDO:0002052 NCIT:C26937 NCIT:C26821 lymphadenitis -MONDO:0003068 postauricular lymphadenitis MONDO:0002052 NCIT:C27332 NCIT:C26821 lymphadenitis -MONDO:0003069 suppurative lymphadenitis MONDO:0002052 NCIT:C27135 NCIT:C26821 lymphadenitis -MONDO:0003070 axillary lymphadenitis MONDO:0002052 NCIT:C27333 NCIT:C26821 lymphadenitis MONDO:0003072 retinal cancer MONDO:0002236 NCIT:C3216 NCIT:C4767 ocular cancer MONDO:0003072 retinal cancer MONDO:0021231 NCIT:C3216 NCIT:C4800 retina neoplasm MONDO:0003073 trilateral retinoblastoma MONDO:0008380 NCIT:C7019 NCIT:C7541 retinoblastoma @@ -1283,7 +935,6 @@ MONDO:0003077 intraocular retinoblastoma MONDO:0008380 NCIT:C7846 NCIT:C7541 ret MONDO:0003078 extraocular retinoblastoma MONDO:0008380 NCIT:C7848 NCIT:C7541 retinoblastoma MONDO:0003079 mastocytoma MONDO:0002724 NCIT:C9303 NCIT:C9295 mast cell neoplasm MONDO:0003083 venous hemangioma MONDO:0006500 NCIT:C4296 NCIT:C3085 hemangioma -MONDO:0003084 uremic neuropathy MONDO:0005244 NCIT:C27055 NCIT:C4731 peripheral neuropathy MONDO:0003086 thymic mucoepidermoid carcinoma MONDO:0003036 NCIT:C6457 NCIT:C3772 mucoepidermoid carcinoma MONDO:0003087 mucoepidermoid breast carcinoma MONDO:0003036 NCIT:C5166 NCIT:C3772 mucoepidermoid carcinoma MONDO:0003087 mucoepidermoid breast carcinoma MONDO:0006256 NCIT:C5166 NCIT:C9245 invasive breast carcinoma @@ -1298,11 +949,9 @@ MONDO:0003095 laryngeal mucoepidermoid carcinoma MONDO:0002358 NCIT:C9463 NCIT:C MONDO:0003095 laryngeal mucoepidermoid carcinoma MONDO:0003036 NCIT:C9463 NCIT:C3772 mucoepidermoid carcinoma MONDO:0003096 deep hemangioma MONDO:0006500 NCIT:C6555 NCIT:C3085 hemangioma MONDO:0003097 childhood mediastinal neurogenic neoplasm MONDO:0003098 NCIT:C5429 NCIT:C6624 mediastinal neural neoplasm -MONDO:0003097 childhood mediastinal neurogenic neoplasm MONDO:0021079 NCIT:C5429 NCIT:C6283 childhood neoplasm MONDO:0003098 mediastinal neural neoplasm MONDO:0021386 NCIT:C6624 NCIT:C3221 neoplasm of mediastinum MONDO:0003100 nerve plexus neoplasm MONDO:0001406 NCIT:C5822 NCIT:C3321 peripheral nervous system neoplasm MONDO:0003104 epicardium cancer MONDO:0021379 NCIT:C4568 NCIT:C5347 neoplasm of epicardium -MONDO:0003105 prostate disorder MONDO:0003150 NCIT:C26865 NCIT:C27019 male reproductive system disorder MONDO:0003107 infratentorial cancer MONDO:0001657 NCIT:C4966 NCIT:C3568 brain cancer MONDO:0003108 cervicomedullary junction neoplasm MONDO:0021234 NCIT:C5423 NCIT:C3381 spinal cord neoplasm MONDO:0003109 foramen magnum meningioma MONDO:0002998 NCIT:C5280 NCIT:C5272 skull base meningioma @@ -1315,32 +964,20 @@ MONDO:0003113 extragonadal germ cell cancer MONDO:0006290 NCIT:C8881 NCIT:C4925 MONDO:0003113 extragonadal germ cell cancer MONDO:0018201 NCIT:C8881 NCIT:C3918 extragonadal germ cell tumor MONDO:0003115 subglottic hemangioma MONDO:0006500 NCIT:C6026 NCIT:C3085 hemangioma MONDO:0003115 subglottic hemangioma MONDO:0021530 NCIT:C6026 NCIT:C4427 benign neoplasm of subglottis -MONDO:0003117 somatoform disorder MONDO:0002025 NCIT:C34956 NCIT:C2893 psychiatric disorder -MONDO:0003118 testicular Brenner tumor MONDO:0021348 NCIT:C39953 NCIT:C3404 neoplasm of testis MONDO:0003118 testicular Brenner tumor MONDO:0024235 NCIT:C39953 NCIT:C39954 Brenner tumor MONDO:0003120 mixed testicular germ cell cancer MONDO:0003510 NCIT:C6347 NCIT:C9063 malignant testicular germ cell tumor MONDO:0003120 mixed testicular germ cell cancer MONDO:0015864 NCIT:C6347 NCIT:C4290 mixed germ cell tumor -MONDO:0003122 striatonigral degeneration MONDO:0007803 NCIT:C125695 NCIT:C84909 multiple system atrophy MONDO:0003124 testicular Leydig cell tumor MONDO:0003125 NCIT:C6356 NCIT:C6358 testicular sex cord-stromal neoplasm MONDO:0003124 testicular Leydig cell tumor MONDO:0006266 NCIT:C6356 NCIT:C3188 Leydig cell tumor MONDO:0003125 testicular sex cord-stromal neoplasm MONDO:0006055 NCIT:C6358 NCIT:C3794 sex cord-stromal tumor MONDO:0003125 testicular sex cord-stromal neoplasm MONDO:0021348 NCIT:C6358 NCIT:C3404 neoplasm of testis MONDO:0003126 breast hemangioma MONDO:0000620 NCIT:C5353 NCIT:C4505 breast benign neoplasm MONDO:0003126 breast hemangioma MONDO:0006500 NCIT:C5353 NCIT:C3085 hemangioma -MONDO:0003133 exudative glomerulonephritis MONDO:0002462 NCIT:C35706 NCIT:C26784 glomerulonephritis -MONDO:0003134 proliferative glomerulonephritis MONDO:0002462 NCIT:C35281 NCIT:C26784 glomerulonephritis -MONDO:0003135 focal embolic glomerulonephritis MONDO:0002462 NCIT:C35707 NCIT:C26784 glomerulonephritis -MONDO:0003136 anti-basement membrane glomerulonephritis MONDO:0002462 NCIT:C35798 NCIT:C26784 glomerulonephritis -MONDO:0003137 diffuse glomerulonephritis MONDO:0002462 NCIT:C35799 NCIT:C26784 glomerulonephritis -MONDO:0003138 subacute glomerulonephritis MONDO:0002462 NCIT:C35801 NCIT:C26784 glomerulonephritis -MONDO:0003139 mesangial proliferative glomerulonephritis MONDO:0002462 NCIT:C35445 NCIT:C26784 glomerulonephritis -MONDO:0003140 immune-complex glomerulonephritis MONDO:0002462 NCIT:C35800 NCIT:C26784 glomerulonephritis MONDO:0003141 cerebellopontine angle embryonal tumor MONDO:0002553 NCIT:C5436 NCIT:C5414 cerebellopontine angle tumor MONDO:0003141 cerebellopontine angle embryonal tumor MONDO:0003107 NCIT:C5436 NCIT:C4966 infratentorial cancer MONDO:0003142 intracranial primitive neuroectodermal tumor MONDO:0000640 NCIT:C5817 NCIT:C5398 central nervous system primitive neuroectodermal neoplasm MONDO:0003142 intracranial primitive neuroectodermal tumor MONDO:0001657 NCIT:C5817 NCIT:C3568 brain cancer MONDO:0003145 supratentorial primitive neuroectodermal tumor MONDO:0002071 NCIT:C6968 NCIT:C4964 supratentorial cancer -MONDO:0003150 male reproductive system disorder MONDO:0005039 NCIT:C27019 NCIT:C4875 reproductive system disorder MONDO:0003152 adult brainstem gliosarcoma MONDO:0003153 NCIT:C9370 NCIT:C9091 adult brainstem glioma MONDO:0003153 adult brainstem glioma MONDO:0002911 NCIT:C9091 NCIT:C8501 brain stem glioma MONDO:0003153 adult brainstem glioma MONDO:0024797 NCIT:C9091 NCIT:C5967 adult brain stem neoplasm @@ -1447,7 +1084,6 @@ MONDO:0003274 thoracic cancer MONDO:0004992 NCIT:C3576 NCIT:C9305 cancer MONDO:0003274 thoracic cancer MONDO:0021350 NCIT:C3576 NCIT:C3406 neoplasm of thorax MONDO:0003275 middle ear cancer MONDO:0003277 NCIT:C4765 NCIT:C9337 malignant ear neoplasm MONDO:0003275 middle ear cancer MONDO:0021366 NCIT:C4765 NCIT:C4412 neoplasm of middle ear -MONDO:0003276 middle ear disorder MONDO:0021205 NCIT:C27065 NCIT:C26757 disorder of ear MONDO:0003277 malignant ear neoplasm MONDO:0005627 NCIT:C9337 NCIT:C4013 head and neck cancer MONDO:0003277 malignant ear neoplasm MONDO:0021233 NCIT:C9337 NCIT:C3000 ear neoplasm MONDO:0003281 ovarian cystic teratoma MONDO:0002379 NCIT:C7283 NCIT:C9014 cystic teratoma @@ -1475,10 +1111,7 @@ MONDO:0003303 neurofibroma of gallbladder MONDO:0016755 NCIT:C5746 NCIT:C3272 ne MONDO:0003304 plexiform neurofibroma MONDO:0016755 NCIT:C3797 NCIT:C3272 neurofibroma MONDO:0003305 cellular neurofibroma MONDO:0016755 NCIT:C41427 NCIT:C3272 neurofibroma MONDO:0003306 atypical neurofibroma MONDO:0016755 NCIT:C41426 NCIT:C3272 neurofibroma -MONDO:0003307 multiple mucosal neuroma MONDO:0002173 NCIT:C6559 NCIT:C3275 neuroma -MONDO:0003308 pleural mesothelioma MONDO:0005065 NCIT:C9351 NCIT:C3234 mesothelioma MONDO:0003308 pleural mesothelioma MONDO:0021065 NCIT:C9351 NCIT:C3332 pleural neoplasm -MONDO:0003310 Monckeberg arteriosclerosis MONDO:0002277 NCIT:C35770 NCIT:C34398 arteriosclerosis disorder MONDO:0003312 ovarian endometrioid stromal and related neoplasms MONDO:0037742 NCIT:C40065 NCIT:C8384 endometrioid stromal and related neoplasms MONDO:0003314 endometrioid stromal and related neoplasms of the vagina MONDO:0037742 NCIT:C40269 NCIT:C8384 endometrioid stromal and related neoplasms MONDO:0003316 nonanaplastic kidney Wilms tumor MONDO:0019004 NCIT:C6951 NCIT:C40407 kidney Wilms tumor @@ -1492,20 +1125,12 @@ MONDO:0003326 intermixed schwannian stroma-rich ganglioneuroblastoma MONDO:00050 MONDO:0003327 peripheral ganglioneuroblastoma MONDO:0005035 NCIT:C6594 NCIT:C3790 ganglioneuroblastoma MONDO:0003328 fallopian tube adenomatoid tumor MONDO:0000645 NCIT:C40129 NCIT:C4517 fallopian tube benign neoplasm MONDO:0003328 fallopian tube adenomatoid tumor MONDO:0004230 NCIT:C40129 NCIT:C3762 adenomatoid tumor -MONDO:0003330 urinary tract obstruction MONDO:0002118 NCIT:C3675 NCIT:C3430 urinary system disorder MONDO:0003331 ovarian monodermal teratoma MONDO:0005602 NCIT:C7286 NCIT:C8110 ovarian teratoma MONDO:0003332 malignant struma ovarii MONDO:0006444 NCIT:C4291 NCIT:C4289 teratoma with malignant transformation -MONDO:0003332 malignant struma ovarii MONDO:0006980 NCIT:C4291 NCIT:C7468 struma ovarii -MONDO:0003334 demyelinating polyneuropathy MONDO:0001824 NCIT:C27062 NCIT:C26951 polyneuropathy -MONDO:0003334 demyelinating polyneuropathy MONDO:0002562 NCIT:C27062 NCIT:C34527 demyelinating disease -MONDO:0003335 chronic polyneuropathy MONDO:0001824 NCIT:C36071 NCIT:C26951 polyneuropathy -MONDO:0003336 acute necrotizing encephalitis MONDO:0006009 NCIT:C35383 NCIT:C35302 viral encephalitis -MONDO:0003337 acute hemorrhagic encephalitis MONDO:0006009 NCIT:C35796 NCIT:C35302 viral encephalitis MONDO:0003340 malignant glomus tumor MONDO:0018327 NCIT:C4221 NCIT:C3060 glomus tumor MONDO:0003341 subungual glomus tumor MONDO:0002295 NCIT:C36079 NCIT:C4491 skin glomus tumor MONDO:0003342 benign perivascular tumor MONDO:0002604 NCIT:C6529 NCIT:C6528 pericytic neoplasm MONDO:0003343 retinal hemangioblastoma MONDO:0016748 NCIT:C39783 NCIT:C3801 hemangioblastoma -MONDO:0003346 central nervous system vasculitis MONDO:0018882 NCIT:C84622 NCIT:C26912 vasculitis MONDO:0003347 inflammatory leiomyosarcoma MONDO:0005058 NCIT:C27495 NCIT:C3158 leiomyosarcoma MONDO:0003348 conventional leiomyosarcoma MONDO:0005058 NCIT:C9428 NCIT:C3158 leiomyosarcoma MONDO:0003349 central nervous system leiomyosarcoma MONDO:0002217 NCIT:C6999 NCIT:C5153 central nervous system sarcoma @@ -1546,14 +1171,10 @@ MONDO:0003376 mediastinum leiomyosarcoma MONDO:0005058 NCIT:C6619 NCIT:C3158 lei MONDO:0003377 extrahepatic bile duct leiomyosarcoma MONDO:0024658 NCIT:C5848 NCIT:C5029 extrahepatic bile duct sarcoma MONDO:0003378 liver leiomyosarcoma MONDO:0002397 NCIT:C5756 NCIT:C4437 liver sarcoma MONDO:0003379 rectum leiomyosarcoma MONDO:0002168 NCIT:C5549 NCIT:C5548 rectum sarcoma -MONDO:0003382 eyelid disorder MONDO:0005328 NCIT:C26768 NCIT:C26767 eye disorder MONDO:0003383 fallopian tube clear cell adenocarcinoma MONDO:0002746 NCIT:C6280 NCIT:C6265 fallopian tube adenocarcinoma MONDO:0003383 fallopian tube clear cell adenocarcinoma MONDO:0005004 NCIT:C6280 NCIT:C3766 clear cell adenocarcinoma MONDO:0003384 uterine ligament clear cell adenocarcinoma MONDO:0002741 NCIT:C40139 NCIT:C40135 uterine ligament adenocarcinoma -MONDO:0003386 bladder clear cell adenocarcinoma MONDO:0002751 NCIT:C6179 NCIT:C4032 bladder adenocarcinoma -MONDO:0003386 bladder clear cell adenocarcinoma MONDO:0005004 NCIT:C6179 NCIT:C3766 clear cell adenocarcinoma MONDO:0003387 urethra clear cell adenocarcinoma MONDO:0003200 NCIT:C6172 NCIT:C6167 urethra adenocarcinoma -MONDO:0003387 urethra clear cell adenocarcinoma MONDO:0005004 NCIT:C6172 NCIT:C3766 clear cell adenocarcinoma MONDO:0003388 ampulla of vater clear cell adenocarcinoma MONDO:0002670 NCIT:C27414 NCIT:C6650 ampulla of vater adenocarcinoma MONDO:0003389 epithelial-myoepithelial carcinoma MONDO:0004993 NCIT:C4199 NCIT:C2916 carcinoma MONDO:0003390 glycogen-rich clear cell breast carcinoma MONDO:0004953 NCIT:C40368 NCIT:C4194 invasive ductal breast carcinoma @@ -1563,10 +1184,8 @@ MONDO:0003391 vulvar alveolar soft part sarcoma MONDO:0005214 NCIT:C40320 NCIT:C MONDO:0003391 vulvar alveolar soft part sarcoma MONDO:0011655 NCIT:C40320 NCIT:C3750 alveolar soft part sarcoma MONDO:0003392 fallopian tube germ cell tumor MONDO:0005040 NCIT:C40130 NCIT:C3708 germ cell tumor MONDO:0003392 fallopian tube germ cell tumor MONDO:0021092 NCIT:C40130 NCIT:C3032 fallopian tube neoplasm -MONDO:0003394 dental pulp disorder MONDO:0006999 NCIT:C34530 NCIT:C35077 tooth disorder MONDO:0003395 testicular granulosa cell tumor MONDO:0003125 NCIT:C6357 NCIT:C6358 testicular sex cord-stromal neoplasm MONDO:0003395 testicular granulosa cell tumor MONDO:0006036 NCIT:C6357 NCIT:C3070 granulosa cell tumor -MONDO:0003396 epulis MONDO:0005079 NCIT:C3948 NCIT:C3340 polyp MONDO:0003399 pineal region yolk sac tumor MONDO:0002073 NCIT:C6752 NCIT:C6767 malignant pineal area germ cell neoplasm MONDO:0003400 childhood endodermal sinus tumor MONDO:0004479 NCIT:C27364 NCIT:C6541 malignant childhood germ cell neoplasm MONDO:0003400 childhood endodermal sinus tumor MONDO:0005744 NCIT:C27364 NCIT:C3011 yolk sac tumor @@ -1614,7 +1233,6 @@ MONDO:0003435 microcystic adenoma MONDO:0004972 NCIT:C3685 NCIT:C2855 adenoma MONDO:0003437 occult small cell lung carcinoma MONDO:0008433 NCIT:C6683 NCIT:C4917 small cell lung carcinoma MONDO:0003438 combined small cell lung carcinoma MONDO:0006167 NCIT:C9137 NCIT:C7591 combined lung carcinoma MONDO:0003438 combined small cell lung carcinoma MONDO:0008433 NCIT:C9137 NCIT:C4917 small cell lung carcinoma -MONDO:0003441 dystonic disorder MONDO:0005395 NCIT:C34563 NCIT:C116757 movement disorder MONDO:0003442 bladder papillary urothelial neoplasm MONDO:0003443 NCIT:C39857 NCIT:C27883 papillary urothelial neoplasm MONDO:0003442 bladder papillary urothelial neoplasm MONDO:0004987 NCIT:C39857 NCIT:C2901 urinary bladder neoplasm MONDO:0003443 papillary urothelial neoplasm MONDO:0021096 NCIT:C27883 NCIT:C8429 papillary epithelial neoplasm @@ -1676,21 +1294,17 @@ MONDO:0003510 malignant testicular germ cell tumor MONDO:0006290 NCIT:C9063 NCIT MONDO:0003510 malignant testicular germ cell tumor MONDO:0010108 NCIT:C9063 NCIT:C8591 testicular germ cell tumor MONDO:0003512 mediastinal mesenchymal tumor MONDO:0006424 NCIT:C6637 NCIT:C3377 soft tissue neoplasm MONDO:0003512 mediastinal mesenchymal tumor MONDO:0021386 NCIT:C6637 NCIT:C3221 neoplasm of mediastinum -MONDO:0003513 gastric teratoma MONDO:0002601 NCIT:C5259 NCIT:C3403 teratoma MONDO:0003514 malignant teratoma MONDO:0002601 NCIT:C4287 NCIT:C3403 teratoma MONDO:0003514 malignant teratoma MONDO:0006290 NCIT:C4287 NCIT:C4925 malignant germ cell tumor -MONDO:0003515 fallopian tube teratoma MONDO:0002601 NCIT:C40131 NCIT:C3403 teratoma MONDO:0003515 fallopian tube teratoma MONDO:0003392 NCIT:C40131 NCIT:C40130 fallopian tube germ cell tumor MONDO:0003516 adult teratoma MONDO:0002601 NCIT:C9013 NCIT:C3403 teratoma MONDO:0003516 adult teratoma MONDO:0044878 NCIT:C9013 NCIT:C114777 adult germ cell tumor -MONDO:0003518 mediastinum teratoma MONDO:0002601 NCIT:C6438 NCIT:C3403 teratoma MONDO:0003518 mediastinum teratoma MONDO:0021067 NCIT:C6438 NCIT:C6437 mediastinal germ cell tumor MONDO:0003523 gastrin-producing neuroendocrine tumor MONDO:0000386 NCIT:C3050 NCIT:C95404 digestive system neuroendocrine tumor, grade 1/2 MONDO:0003524 gastric gastrin-producing neuroendocrine tumor MONDO:0003523 NCIT:C27444 NCIT:C3050 gastrin-producing neuroendocrine tumor MONDO:0003524 gastric gastrin-producing neuroendocrine tumor MONDO:0015062 NCIT:C27444 NCIT:C95871 gastric neuroendocrine tumor, well differentiated, low or intermediate grade MONDO:0003525 pancreatic gastrin-producing neuroendocrine tumor MONDO:0003523 NCIT:C9069 NCIT:C3050 gastrin-producing neuroendocrine tumor MONDO:0003525 pancreatic gastrin-producing neuroendocrine tumor MONDO:0019954 NCIT:C9069 NCIT:C27720 pancreatic neuroendocrine tumor -MONDO:0003529 acute pyelonephritis MONDO:0006939 NCIT:C123215 NCIT:C34965 pyelonephritis MONDO:0003531 papillary eccrine carcinoma MONDO:0002512 NCIT:C27254 NCIT:C2853 papillary adenocarcinoma MONDO:0003531 papillary eccrine carcinoma MONDO:0024240 NCIT:C27254 NCIT:C27255 eccrine carcinoma MONDO:0003532 breast papillary carcinoma MONDO:0002512 NCIT:C9134 NCIT:C2853 papillary adenocarcinoma @@ -1701,10 +1315,8 @@ MONDO:0003537 precursor T-lymphoblastic lymphoma/leukemia MONDO:0024615 NCIT:C86 MONDO:0003538 precursor lymphoblastic lymphoma/leukemia MONDO:0005157 NCIT:C7055 NCIT:C7065 lymphoid neoplasm MONDO:0003539 T-cell adult acute lymphocytic leukemia MONDO:0003541 NCIT:C9142 NCIT:C4967 adult acute lymphoblastic leukemia MONDO:0003541 adult acute lymphoblastic leukemia MONDO:0004967 NCIT:C4967 NCIT:C3167 acute lymphoblastic leukemia -MONDO:0003543 trigeminal nerve disorder MONDO:0003569 NCIT:C26952 NCIT:C26733 cranial nerve neuropathy MONDO:0003544 spinal cord cancer MONDO:0002714 NCIT:C3572 NCIT:C4627 central nervous system cancer MONDO:0003544 spinal cord cancer MONDO:0021234 NCIT:C3572 NCIT:C3381 spinal cord neoplasm -MONDO:0003546 third cranial nerve disorder MONDO:0003569 NCIT:C27598 NCIT:C26733 cranial nerve neuropathy MONDO:0003548 adenosquamous breast carcinoma MONDO:0006074 NCIT:C40361 NCIT:C3727 adenosquamous carcinoma MONDO:0003550 esophageal adenosquamous carcinoma MONDO:0006074 NCIT:C27421 NCIT:C3727 adenosquamous carcinoma MONDO:0003551 thymic adenosquamous carcinoma MONDO:0006074 NCIT:C6458 NCIT:C3727 adenosquamous carcinoma @@ -1715,24 +1327,18 @@ MONDO:0003557 optic nerve sheath meningioma MONDO:0002640 NCIT:C4538 NCIT:C4801 MONDO:0003558 adenosquamous prostate carcinoma MONDO:0006074 NCIT:C5538 NCIT:C3727 adenosquamous carcinoma MONDO:0003561 malignant giant cell tumor of soft parts MONDO:0002142 NCIT:C8380 NCIT:C4247 undifferentiated pleomorphic sarcoma MONDO:0003561 malignant giant cell tumor of soft parts MONDO:0002402 NCIT:C8380 NCIT:C4090 malignant giant cell tumor -MONDO:0003563 diffuse pulmonary fibrosis MONDO:0002771 NCIT:C27216 NCIT:C26869 pulmonary fibrosis -MONDO:0003564 localized pulmonary fibrosis MONDO:0002771 NCIT:C27103 NCIT:C26869 pulmonary fibrosis -MONDO:0003569 cranial nerve neuropathy MONDO:0005071 NCIT:C26733 NCIT:C26835 nervous system disorder MONDO:0003570 lipid-rich carcinoma MONDO:0004993 NCIT:C4152 NCIT:C2916 carcinoma MONDO:0003572 nasopharyngeal type undifferentiated carcinoma MONDO:0005232 NCIT:C4107 NCIT:C3780 large cell carcinoma MONDO:0003573 pleomorphic carcinoma MONDO:0006406 NCIT:C4094 NCIT:C27004 sarcomatoid carcinoma MONDO:0003574 external ear cancer MONDO:0003277 NCIT:C4653 NCIT:C9337 malignant ear neoplasm MONDO:0003574 external ear cancer MONDO:0021235 NCIT:C4653 NCIT:C4652 external ear neoplasm -MONDO:0003575 comedocarcinoma MONDO:0004993 NCIT:C4188 NCIT:C2916 carcinoma MONDO:0003578 extragonadal nonseminomatous germ cell tumor MONDO:0003113 NCIT:C8885 NCIT:C8881 extragonadal germ cell cancer MONDO:0003581 ovarian embryonal carcinoma MONDO:0005440 NCIT:C8108 NCIT:C3752 embryonal carcinoma MONDO:0003581 ovarian embryonal carcinoma MONDO:0016096 NCIT:C8108 NCIT:C102870 malignant non-dysgerminomatous germ cell tumor of ovary -MONDO:0003582 hereditary breast ovarian cancer syndrome MONDO:0015356 NCIT:C8493 NCIT:C3266 hereditary neoplastic syndrome MONDO:0003585 adult liposarcoma MONDO:0005060 NCIT:C7811 NCIT:C3194 liposarcoma MONDO:0003586 esophagus liposarcoma MONDO:0001204 NCIT:C5705 NCIT:C5341 esophagus sarcoma MONDO:0003586 esophagus liposarcoma MONDO:0005060 NCIT:C5705 NCIT:C3194 liposarcoma MONDO:0003587 pediatric liposarcoma MONDO:0005060 NCIT:C8091 NCIT:C3194 liposarcoma -MONDO:0003587 pediatric liposarcoma MONDO:0006517 NCIT:C8091 NCIT:C4005 childhood malignant neoplasm MONDO:0003588 larynx liposarcoma MONDO:0005060 NCIT:C6021 NCIT:C3194 liposarcoma MONDO:0003589 liposarcoma of the ovary MONDO:0002225 NCIT:C6419 NCIT:C8267 ovarian sarcoma MONDO:0003589 liposarcoma of the ovary MONDO:0005060 NCIT:C6419 NCIT:C3194 liposarcoma @@ -1754,24 +1360,18 @@ MONDO:0003606 adrenal medulla cancer MONDO:0021237 NCIT:C4396 NCIT:C4856 adrenal MONDO:0003609 seminal vesicle cystadenoma MONDO:0002369 NCIT:C39907 NCIT:C2972 cystadenoma MONDO:0003612 uterine ligament cancer MONDO:0021629 NCIT:C126498 NCIT:C40133 uterine ligament neoplasm MONDO:0003614 intravenous leiomyomatosis MONDO:0003295 NCIT:C4518 NCIT:C3748 leiomyomatosis -MONDO:0003615 nerve compression syndrome MONDO:0005244 NCIT:C27221 NCIT:C4731 peripheral neuropathy -MONDO:0003617 chronic salpingitis MONDO:0003619 NCIT:C40118 NCIT:C26880 salpingitis -MONDO:0003620 peripheral nervous system disorder MONDO:0005071 NCIT:C27580 NCIT:C26835 nervous system disorder MONDO:0003621 small intestinal vasoactive intestinal peptide producing tumor MONDO:0002995 NCIT:C27455 NCIT:C96061 small intestine neuroendocrine tumor, well differentiated, low or intermediate grade MONDO:0003621 small intestinal vasoactive intestinal peptide producing tumor MONDO:0019960 NCIT:C27455 NCIT:C26749 VIPoma MONDO:0003622 pancreatic vasoactive intestinal peptide producing tumor MONDO:0019960 NCIT:C27454 NCIT:C26749 VIPoma MONDO:0003624 acinic cell breast carcinoma MONDO:0004965 NCIT:C40367 NCIT:C3768 acinar cell carcinoma -MONDO:0003628 pulmonary valve disorder MONDO:0002869 NCIT:C78579 NCIT:C45525 heart valve disorder MONDO:0003630 pancreatic serous cystadenocarcinoma MONDO:0002810 NCIT:C5724 NCIT:C41248 pancreatic serous cystic neoplasm MONDO:0003630 pancreatic serous cystadenocarcinoma MONDO:0002867 NCIT:C5724 NCIT:C3874 pancreatic cystadenocarcinoma MONDO:0003630 pancreatic serous cystadenocarcinoma MONDO:0024621 NCIT:C5724 NCIT:C3778 serous cystadenocarcinoma MONDO:0003631 cervical serous adenocarcinoma MONDO:0005278 NCIT:C40201 NCIT:C40101 serous adenocarcinoma -MONDO:0003632 endocervicitis MONDO:0002345 NCIT:C26762 NCIT:C26716 cervicitis MONDO:0003633 malignant mesenchymoma MONDO:0006854 NCIT:C4268 NCIT:C3233 mesenchymoma MONDO:0003635 sebaceous breast carcinoma MONDO:0006962 NCIT:C40369 NCIT:C40310 sebaceous adenocarcinoma MONDO:0003636 vulvar sebaceous carcinoma MONDO:0024336 NCIT:C40309 NCIT:C6380 vulvar adenocarcinoma MONDO:0003639 lung hilum neoplasm MONDO:0021117 NCIT:C5671 NCIT:C3200 lung neoplasm -MONDO:0003640 verruciform xanthoma of skin MONDO:0005236 NCIT:C4478 NCIT:C4071 xanthoma MONDO:0003641 central nervous system hematopoietic neoplasm MONDO:0006130 NCIT:C5503 NCIT:C9293 central nervous system neoplasm MONDO:0003641 central nervous system hematopoietic neoplasm MONDO:0044881 NCIT:C5503 NCIT:C27134 hematopoietic and lymphoid cell neoplasm MONDO:0003643 giant hemangioma MONDO:0003155 NCIT:C27777 NCIT:C3086 cavernous hemangioma @@ -1780,19 +1380,14 @@ MONDO:0003644 cavernous hemangioma of colon MONDO:0003155 NCIT:C5395 NCIT:C3086 MONDO:0003645 cavernous hemangioma of face MONDO:0003155 NCIT:C7053 NCIT:C3086 cavernous hemangioma MONDO:0003649 esophageal neuroendocrine tumor MONDO:0000386 NCIT:C95616 NCIT:C95404 digestive system neuroendocrine tumor, grade 1/2 MONDO:0003650 mixed hepatoblastoma MONDO:0018666 NCIT:C7097 NCIT:C3728 hepatoblastoma -MONDO:0003651 macrotrabecular hepatoblastoma MONDO:0018666 NCIT:C7095 NCIT:C3728 hepatoblastoma -MONDO:0003652 acute urate nephropathy MONDO:0008171 NCIT:C123037 NCIT:C114667 nephrolithiasis -MONDO:0003654 childhood parosteal osteosarcoma MONDO:0002623 NCIT:C6589 NCIT:C6585 pediatric osteosarcoma MONDO:0003654 childhood parosteal osteosarcoma MONDO:0006817 NCIT:C6589 NCIT:C8969 juxtacortical osteosarcoma MONDO:0003655 cerebral lymphoma MONDO:0002571 NCIT:C7611 NCIT:C9301 primary central nervous system lymphoma MONDO:0003655 cerebral lymphoma MONDO:0002731 NCIT:C7611 NCIT:C4577 cerebral hemisphere cancer -MONDO:0003658 B-cell lymphoma, unclassifiable, with features intermediate between diffuse large b-cell lymphoma and classical Hodgkin lymphoma MONDO:0005062 NCIT:C37869 NCIT:C3208 lymphoma MONDO:0003659 pediatric lymphoma MONDO:0005062 NCIT:C5165 NCIT:C3208 lymphoma MONDO:0003659 pediatric lymphoma MONDO:0006517 NCIT:C5165 NCIT:C4005 childhood malignant neoplasm MONDO:0003660 adult lymphoma MONDO:0005062 NCIT:C7587 NCIT:C3208 lymphoma MONDO:0003661 breast lymphoma MONDO:0007254 NCIT:C4671 NCIT:C9335 breast cancer MONDO:0003663 uterine ligament endometrioid adenocarcinoma MONDO:0002741 NCIT:C40138 NCIT:C40135 uterine ligament adenocarcinoma -MONDO:0003664 hemolytic anemia MONDO:0004139 NCIT:C34376 NCIT:C35142 normocytic anemia MONDO:0003665 cervical endometrioid adenocarcinoma MONDO:0005026 NCIT:C6343 NCIT:C3769 endometrioid adenocarcinoma MONDO:0003666 fallopian tube endometrioid adenocarcinoma MONDO:0002746 NCIT:C6279 NCIT:C6265 fallopian tube adenocarcinoma MONDO:0003666 fallopian tube endometrioid adenocarcinoma MONDO:0005026 NCIT:C6279 NCIT:C3769 endometrioid adenocarcinoma @@ -1801,7 +1396,6 @@ MONDO:0003668 extragonadal seminoma MONDO:0003113 NCIT:C7327 NCIT:C8881 extragon MONDO:0003669 testicular seminoma MONDO:0002874 NCIT:C7328 NCIT:C39915 testicular pure germ cell tumor MONDO:0003669 testicular seminoma MONDO:0003001 NCIT:C7328 NCIT:C9309 seminoma MONDO:0003669 testicular seminoma MONDO:0003510 NCIT:C7328 NCIT:C9063 malignant testicular germ cell tumor -MONDO:0003678 silent myocardial infarction MONDO:0005068 NCIT:C35400 NCIT:C27996 myocardial infarction MONDO:0003680 periosteal chondrosarcoma MONDO:0021054 NCIT:C7357 NCIT:C9312 bone sarcoma MONDO:0003682 localized chondrosarcoma MONDO:0008977 NCIT:C8778 NCIT:C2946 chondrosarcoma MONDO:0003684 clear cell chondrosarcoma MONDO:0021054 NCIT:C6475 NCIT:C9312 bone sarcoma @@ -1809,8 +1403,6 @@ MONDO:0003685 retroperitoneal germ cell neoplasm MONDO:0024645 NCIT:C6447 NCIT:C MONDO:0003686 apocrine sweat gland neoplasm MONDO:0002381 NCIT:C6798 NCIT:C3398 sweat gland neoplasm MONDO:0003687 endocardium cancer MONDO:0001340 NCIT:C4570 NCIT:C3548 heart cancer MONDO:0003687 endocardium cancer MONDO:0021378 NCIT:C4570 NCIT:C5346 neoplasm of endocardium -MONDO:0003688 well differentiated papillary mesothelioma MONDO:0005065 NCIT:C7635 NCIT:C3234 mesothelioma -MONDO:0003689 familial hemolytic anemia MONDO:0003664 NCIT:C34379 NCIT:C34376 hemolytic anemia MONDO:0003690 adult anaplastic ependymoma MONDO:0016700 NCIT:C8269 NCIT:C4049 anaplastic ependymoma MONDO:0003691 childhood malignant mesenchymoma MONDO:0003633 NCIT:C8097 NCIT:C4268 malignant mesenchymoma MONDO:0003692 adult malignant mesenchymoma MONDO:0003633 NCIT:C7947 NCIT:C4268 malignant mesenchymoma @@ -1821,7 +1413,6 @@ MONDO:0003694 ovarian clear cell cystadenofibroma MONDO:0003695 NCIT:C40086 NCIT MONDO:0003695 ovarian clear cell adenofibroma MONDO:0003460 NCIT:C40085 NCIT:C8987 clear cell adenofibroma MONDO:0003698 penis verrucous carcinoma MONDO:0004433 NCIT:C6982 NCIT:C6983 papillary carcinoma of the penis MONDO:0003698 penis verrucous carcinoma MONDO:0006006 NCIT:C6982 NCIT:C3781 verrucous carcinoma -MONDO:0003699 phobic disorder MONDO:0005618 NCIT:C35420 NCIT:C2878 anxiety disorder MONDO:0003700 brachial plexus neoplasm MONDO:0003100 NCIT:C5823 NCIT:C5822 nerve plexus neoplasm MONDO:0003701 thyroid gland diffuse sclerosing papillary carcinoma MONDO:0005075 NCIT:C7427 NCIT:C4035 thyroid gland papillary carcinoma MONDO:0003702 uterus intravascular leiomyomatosis MONDO:0003614 NCIT:C5356 NCIT:C4518 intravenous leiomyomatosis @@ -1832,11 +1423,8 @@ MONDO:0003706 adult brainstem astrocytoma MONDO:0002503 NCIT:C6954 NCIT:C7049 ad MONDO:0003706 adult brainstem astrocytoma MONDO:0003153 NCIT:C6954 NCIT:C9091 adult brainstem glioma MONDO:0003706 adult brainstem astrocytoma MONDO:0003173 NCIT:C6954 NCIT:C7445 brain stem astrocytic neoplasm MONDO:0003707 distal biliary tract carcinoma MONDO:0003090 NCIT:C7109 NCIT:C3860 extrahepatic bile duct carcinoma -MONDO:0003709 agoraphobia MONDO:0003699 NCIT:C34362 NCIT:C35420 phobic disorder MONDO:0003710 ovarian mixed germ cell neoplasm MONDO:0003408 NCIT:C8114 NCIT:C39986 ovarian primitive germ cell tumor MONDO:0003710 ovarian mixed germ cell neoplasm MONDO:0015864 NCIT:C8114 NCIT:C4290 mixed germ cell tumor -MONDO:0003712 angiokeratoma of mibelli MONDO:0003143 NCIT:C3927 NCIT:C4488 angiokeratoma -MONDO:0003713 angiokeratoma circumscriptum MONDO:0003143 NCIT:C7751 NCIT:C4488 angiokeratoma MONDO:0003714 bladder urachal squamous cell carcinoma MONDO:0002760 NCIT:C39845 NCIT:C4031 bladder squamous cell carcinoma MONDO:0003714 bladder urachal squamous cell carcinoma MONDO:0003715 NCIT:C39845 NCIT:C39842 bladder urachal carcinoma MONDO:0003715 bladder urachal carcinoma MONDO:0004986 NCIT:C39842 NCIT:C4912 urinary bladder carcinoma @@ -1850,10 +1438,6 @@ MONDO:0003720 kidney fibrosarcoma MONDO:0002930 NCIT:C7726 NCIT:C4525 kidney sar MONDO:0003721 kidney osteogenic sarcoma MONDO:0002621 NCIT:C6181 NCIT:C8810 extraosseous osteosarcoma MONDO:0003721 kidney osteogenic sarcoma MONDO:0002930 NCIT:C6181 NCIT:C4525 kidney sarcoma MONDO:0003722 internal auditory canal meningioma MONDO:0003121 NCIT:C5307 NCIT:C5586 middle cranial fossa meningioma -MONDO:0003724 non-proliferative fibrocystic change of the breast MONDO:0005219 NCIT:C6943 NCIT:C3039 breast fibrocystic disease -MONDO:0003726 apocrine adenosis of breast MONDO:0003724 NCIT:C5198 NCIT:C6943 non-proliferative fibrocystic change of the breast -MONDO:0003726 apocrine adenosis of breast MONDO:0003725 NCIT:C5198 NCIT:C3484 breast adenosis -MONDO:0003727 animal phobia MONDO:0012000 NCIT:C35273 NCIT:C35284 specific phobia MONDO:0003728 breast fibrosarcoma MONDO:0002490 NCIT:C5185 NCIT:C4670 breast sarcoma MONDO:0003729 aleukemic leukemia cutis MONDO:0003730 NCIT:C4983 NCIT:C4982 aleukemic leukemia MONDO:0003730 aleukemic leukemia MONDO:0005059 NCIT:C4982 NCIT:C3161 leukemia @@ -1869,7 +1453,6 @@ MONDO:0003734 adult central nervous system immature teratoma MONDO:0003735 NCIT: MONDO:0003735 central nervous system immature teratoma MONDO:0002718 NCIT:C7014 NCIT:C5441 central nervous system teratoma MONDO:0003737 malignant testicular Leydig cell tumor MONDO:0000377 NCIT:C39942 NCIT:C4213 malignant Leydig cell tumor MONDO:0003737 malignant testicular Leydig cell tumor MONDO:0003124 NCIT:C39942 NCIT:C6356 testicular Leydig cell tumor -MONDO:0003739 selective immunoglobulin deficiency disease MONDO:0002211 NCIT:C27870 NCIT:C4799 B cell deficiency MONDO:0003741 juvenile type testicular granulosa cell tumor MONDO:0003395 NCIT:C39947 NCIT:C6357 testicular granulosa cell tumor MONDO:0003742 heart fibrosarcoma MONDO:0003354 NCIT:C5361 NCIT:C7723 heart sarcoma MONDO:0003744 spindle cell intraocular melanoma MONDO:0006427 NCIT:C7986 NCIT:C4237 spindle cell melanoma @@ -1878,8 +1461,6 @@ MONDO:0003745 choroid spindle cell melanoma MONDO:0003744 NCIT:C6099 NCIT:C7986 MONDO:0003745 choroid spindle cell melanoma MONDO:0003878 NCIT:C6099 NCIT:C4561 malignant choroid melanoma MONDO:0003746 ciliary body spindle cell melanoma MONDO:0003912 NCIT:C6117 NCIT:C4558 malignant ciliary body melanoma MONDO:0003747 telangiectatic glomangioma MONDO:0002298 NCIT:C5345 NCIT:C6750 cutaneous glomangioma -MONDO:0003748 flying phobia MONDO:0012000 NCIT:C35413 NCIT:C35284 specific phobia -MONDO:0003749 esophageal disorder MONDO:0004335 NCIT:C3027 NCIT:C2990 digestive system disorder MONDO:0003750 childhood central nervous system germ cell tumor MONDO:0003000 NCIT:C6205 NCIT:C5461 central nervous system germ cell tumor MONDO:0003750 childhood central nervous system germ cell tumor MONDO:0003751 NCIT:C6205 NCIT:C7928 childhood germ cell tumor MONDO:0003751 childhood germ cell tumor MONDO:0005040 NCIT:C7928 NCIT:C3708 germ cell tumor @@ -1888,7 +1469,6 @@ MONDO:0003752 frontal sinus Schneiderian papilloma MONDO:0006353 NCIT:C6837 NCIT MONDO:0003752 frontal sinus Schneiderian papilloma MONDO:0021483 NCIT:C6837 NCIT:C4420 benign neoplasm of frontal sinus MONDO:0003753 nasal vestibule squamous papilloma MONDO:0001825 NCIT:C4369 NCIT:C3712 squamous papilloma MONDO:0003753 nasal vestibule squamous papilloma MONDO:0021475 NCIT:C4369 NCIT:C4603 benign neoplasm of nasal cavity -MONDO:0003754 Brown-Sequard syndrome MONDO:0002254 NCIT:C84601 NCIT:C28193 syndromic disease MONDO:0003755 urinary tract non-invasive transitional cell neoplasm MONDO:0024337 NCIT:C39854 NCIT:C39852 urothelial neoplasm MONDO:0003756 ovarian mucinous neoplasm MONDO:0002229 NCIT:C5242 NCIT:C4381 ovarian epithelial tumor MONDO:0003758 childhood testicular germ cell tumor MONDO:0010108 NCIT:C6552 NCIT:C8591 testicular germ cell tumor @@ -1900,14 +1480,11 @@ MONDO:0003760 pediatric ovarian germ cell tumor MONDO:0011366 NCIT:C8588 NCIT:C3 MONDO:0003761 leptomeningeal melanoma MONDO:0003762 NCIT:C5317 NCIT:C8506 malignant leptomeningeal tumor MONDO:0003761 leptomeningeal melanoma MONDO:0016747 NCIT:C5317 NCIT:C5505 primary melanoma of the central nervous system MONDO:0003762 malignant leptomeningeal tumor MONDO:0021322 NCIT:C8506 NCIT:C4628 malignant tumor of meninges -MONDO:0003763 acute stress disorder MONDO:0005618 NCIT:C92621 NCIT:C2878 anxiety disorder MONDO:0003764 pediatric leptomeningeal melanoma MONDO:0003761 NCIT:C5318 NCIT:C5317 leptomeningeal melanoma MONDO:0003765 adult leptomeningeal melanoma MONDO:0003761 NCIT:C5319 NCIT:C5317 leptomeningeal melanoma MONDO:0003766 thalamic cancer MONDO:0002786 NCIT:C4576 NCIT:C5126 diencephalic cancer -MONDO:0003767 mitral valve disorder MONDO:0002869 NCIT:C78446 NCIT:C45525 heart valve disorder MONDO:0003768 signet ring cell variant cervical mucinous adenocarcinoma MONDO:0002742 NCIT:C40205 NCIT:C36095 cervical mucinous adenocarcinoma MONDO:0003768 signet ring cell variant cervical mucinous adenocarcinoma MONDO:0005092 NCIT:C40205 NCIT:C3774 signet ring cell carcinoma -MONDO:0003769 herpetic gastritis MONDO:0002270 NCIT:C27341 NCIT:C27184 viral gastritis MONDO:0003770 thoracic spinal canal and spinal cord meningioma MONDO:0001279 NCIT:C5297 NCIT:C5134 intraspinal meningioma MONDO:0003773 intracerebral cystic meningioma MONDO:0003772 NCIT:C5269 NCIT:C4807 cerebral meningioma MONDO:0003774 cerebral convexity meningioma MONDO:0003772 NCIT:C4959 NCIT:C4807 cerebral meningioma @@ -1918,7 +1495,6 @@ MONDO:0003776 renal pelvis inverted papilloma MONDO:0021109 NCIT:C6187 NCIT:C619 MONDO:0003777 renal pelvis urothelial papilloma MONDO:0003717 NCIT:C4528 NCIT:C8603 renal pelvis papillary tumor MONDO:0003777 renal pelvis urothelial papilloma MONDO:0004041 NCIT:C4528 NCIT:C3842 urothelial papilloma MONDO:0003777 renal pelvis urothelial papilloma MONDO:0021467 NCIT:C4528 NCIT:C3616 benign neoplasm of renal pelvis -MONDO:0003780 T-cell immunodeficiency MONDO:0021094 NCIT:C27145 NCIT:C3131 immunodeficiency disease MONDO:0003782 uterine corpus epithelioid leiomyosarcoma MONDO:0003356 NCIT:C40174 NCIT:C3700 epithelioid leiomyosarcoma MONDO:0003782 uterine corpus epithelioid leiomyosarcoma MONDO:0016262 NCIT:C40174 NCIT:C6340 leiomyosarcoma of the corpus uteri MONDO:0003784 nasal cavity carcinoma in situ MONDO:0003212 NCIT:C4589 NCIT:C9336 nasal cavity carcinoma @@ -1940,10 +1516,8 @@ MONDO:0003801 corneal intraepithelial neoplasm MONDO:0021238 NCIT:C6093 NCIT:C43 MONDO:0003801 corneal intraepithelial neoplasm MONDO:0024475 NCIT:C6093 NCIT:C8334 squamous cell intraepithelial neoplasia MONDO:0003802 cornea cancer MONDO:0002236 NCIT:C3565 NCIT:C4767 ocular cancer MONDO:0003802 cornea cancer MONDO:0021238 NCIT:C3565 NCIT:C4361 cornea neoplasm -MONDO:0003803 aortic valve disorder MONDO:0002869 NCIT:C78650 NCIT:C45525 heart valve disorder MONDO:0003805 malignant pericardial mesothelioma MONDO:0001322 NCIT:C7631 NCIT:C4567 pericardium cancer MONDO:0003805 malignant pericardial mesothelioma MONDO:0006292 NCIT:C7631 NCIT:C4456 malignant mesothelioma -MONDO:0003806 thyroid hyalinizing trabecular adenoma MONDO:0015074 NCIT:C6846 NCIT:C3414 thyroid tumor MONDO:0003808 mediastinal extraskeletal osteosarcoma MONDO:0002621 NCIT:C6615 NCIT:C8810 extraosseous osteosarcoma MONDO:0003808 mediastinal extraskeletal osteosarcoma MONDO:0002852 NCIT:C6615 NCIT:C6606 mediastinum sarcoma MONDO:0003809 malignant mediastinum hemangiopericytoma MONDO:0009330 NCIT:C6608 NCIT:C4301 hemangiopericytoma, malignant @@ -1965,10 +1539,8 @@ MONDO:0003825 kidney oncocytoma MONDO:0010795 NCIT:C4526 NCIT:C7072 oncocytic ne MONDO:0003825 kidney oncocytoma MONDO:0036976 NCIT:C4526 NCIT:C4092 benign epithelial neoplasm MONDO:0003826 mediastinum seminoma MONDO:0003668 NCIT:C6812 NCIT:C7327 extragonadal seminoma MONDO:0003826 mediastinum seminoma MONDO:0006298 NCIT:C6812 NCIT:C6446 mediastinal malignant germ cell tumor -MONDO:0003827 transient hypogammaglobulinemia MONDO:0016463 NCIT:C27319 NCIT:C26931 syndromic agammaglobulinemia MONDO:0003829 chromophil adenoma of the kidney MONDO:0002395 NCIT:C3687 NCIT:C8383 renal adenoma MONDO:0003829 chromophil adenoma of the kidney MONDO:0002533 NCIT:C3687 NCIT:C79951 papillary adenoma -MONDO:0003832 complement deficiency MONDO:0021094 NCIT:C4691 NCIT:C3131 immunodeficiency disease MONDO:0003834 gastric cardia carcinoma MONDO:0004950 NCIT:C6794 NCIT:C4911 gastric carcinoma MONDO:0003835 gastric cardia adenocarcinoma MONDO:0003834 NCIT:C5247 NCIT:C6794 gastric cardia carcinoma MONDO:0003836 malignant thyroid stimulating hormone producing neoplasm of pituitary gland MONDO:0003837 NCIT:C5965 NCIT:C7915 TSH producing pituitary tumor @@ -1983,8 +1555,6 @@ MONDO:0003842 childhood cerebellar astrocytic neoplasm MONDO:0003263 NCIT:C6286 MONDO:0003843 cerebral hemisphere lipoma MONDO:0021497 NCIT:C6220 NCIT:C8548 benign neoplasm of cerebrum MONDO:0003844 central nervous system lipoma MONDO:0005106 NCIT:C5451 NCIT:C3192 lipoma MONDO:0003845 corpus callosum lipoma MONDO:0003843 NCIT:C5438 NCIT:C6220 cerebral hemisphere lipoma -MONDO:0003846 viral esophagitis MONDO:0001409 NCIT:C27108 NCIT:C9224 esophagitis -MONDO:0003846 viral esophagitis MONDO:0005108 NCIT:C27108 NCIT:C3439 viral infectious disease MONDO:0003849 clivus chordoma MONDO:0002892 NCIT:C5412 NCIT:C5453 skull base chordoma MONDO:0003850 clivus chondroid chordoma MONDO:0003849 NCIT:C5426 NCIT:C5412 clivus chordoma MONDO:0003850 clivus chondroid chordoma MONDO:0006145 NCIT:C5426 NCIT:C6902 chondroid chordoma @@ -2080,7 +1650,6 @@ MONDO:0003943 central nervous system hibernoma MONDO:0021168 NCIT:C6997 NCIT:C37 MONDO:0003944 endobronchial leiomyoma MONDO:0003293 NCIT:C5661 NCIT:C5660 lung leiomyoma MONDO:0003945 bone epithelioid hemangioma MONDO:0021169 NCIT:C5396 NCIT:C4298 epithelioid hemangioma MONDO:0003946 vaginal villous adenoma MONDO:0003434 NCIT:C40259 NCIT:C40256 vaginal adenoma -MONDO:0003947 hyper-IgM syndrome MONDO:0002468 NCIT:C3990 NCIT:C27579 hyperimmunoglobulin syndrome MONDO:0003948 cerebral hemangioma MONDO:0003428 NCIT:C5433 NCIT:C7739 brain hemangioma MONDO:0003948 cerebral hemangioma MONDO:0021497 NCIT:C5433 NCIT:C8548 benign neoplasm of cerebrum MONDO:0003950 nipple carcinoma MONDO:0004989 NCIT:C28432 NCIT:C4872 breast carcinoma @@ -2094,11 +1663,7 @@ MONDO:0003955 juvenile breast papillomatosis MONDO:0004253 NCIT:C9503 NCIT:C5201 MONDO:0003957 adult pineoblastoma MONDO:0003248 NCIT:C8292 NCIT:C8273 adult pineal parenchymal tumor MONDO:0003957 adult pineoblastoma MONDO:0016722 NCIT:C8292 NCIT:C9344 pineoblastoma MONDO:0003958 childhood central nervous system immature teratoma MONDO:0003735 NCIT:C27405 NCIT:C7014 central nervous system immature teratoma -MONDO:0003959 breast large cell neuroendocrine carcinoma MONDO:0005057 NCIT:C40356 NCIT:C6875 large cell neuroendocrine carcinoma MONDO:0003960 pulmonary large cell neuroendocrine carcinoma MONDO:0005057 NCIT:C5672 NCIT:C6875 large cell neuroendocrine carcinoma -MONDO:0003962 Froelich syndrome MONDO:0002254 NCIT:C34625 NCIT:C28193 syndromic disease -MONDO:0003963 diffuse infiltrative lymphocytosis syndrome MONDO:0002254 NCIT:C35699 NCIT:C28193 syndromic disease -MONDO:0003965 Capgras syndrome MONDO:0002254 NCIT:C34446 NCIT:C28193 syndromic disease MONDO:0003966 testicular monophasic choriocarcinoma MONDO:0003508 NCIT:C39935 NCIT:C7733 choriocarcinoma of testis MONDO:0003967 synchronous multifocal osteogenic sarcoma MONDO:0002622 NCIT:C6471 NCIT:C6470 multifocal osteogenic sarcoma MONDO:0003968 asynchronous multifocal osteogenic sarcoma MONDO:0002622 NCIT:C6472 NCIT:C6470 multifocal osteogenic sarcoma @@ -2134,7 +1699,6 @@ MONDO:0003997 colon Kaposi sarcoma MONDO:0003352 NCIT:C5516 NCIT:C5495 colon sar MONDO:0003997 colon Kaposi sarcoma MONDO:0024659 NCIT:C5516 NCIT:C96510 colorectal Kaposi sarcoma MONDO:0003999 juvenile pilocytic astrocytoma MONDO:0004000 NCIT:C27081 NCIT:C4048 childhood pilocytic astrocytoma MONDO:0004000 childhood pilocytic astrocytoma MONDO:0016691 NCIT:C4048 NCIT:C4047 pilocytic astrocytoma -MONDO:0004001 compartment syndrome MONDO:0002254 NCIT:C118422 NCIT:C28193 syndromic disease MONDO:0004005 rete ovarii adenoma MONDO:0003192 NCIT:C40018 NCIT:C40016 rete ovarii neoplasm MONDO:0004005 rete ovarii adenoma MONDO:0024276 NCIT:C40018 NCIT:C7132 glandular cell neoplasm MONDO:0004006 rete ovarii cystadenofibroma MONDO:0003192 NCIT:C40020 NCIT:C40016 rete ovarii neoplasm @@ -2154,12 +1718,10 @@ MONDO:0004017 pineal region immature teratoma MONDO:0003735 NCIT:C6755 NCIT:C701 MONDO:0004017 pineal region immature teratoma MONDO:0004015 NCIT:C6755 NCIT:C6753 pineal region teratoma MONDO:0004019 oxyphilic endometrial endometrioid adenocarcinoma MONDO:0006192 NCIT:C27849 NCIT:C6287 endometrial endometrioid adenocarcinoma MONDO:0004020 mediastinal gray zone lymphoma MONDO:0003658 NCIT:C37870 NCIT:C37869 B-cell lymphoma, unclassifiable, with features intermediate between diffuse large b-cell lymphoma and classical Hodgkin lymphoma -MONDO:0004020 mediastinal gray zone lymphoma MONDO:0004021 NCIT:C37870 NCIT:C6633 mediastinal malignant lymphoma MONDO:0004021 mediastinal malignant lymphoma MONDO:0005843 NCIT:C6633 NCIT:C3549 mediastinal cancer MONDO:0004022 parasagittal meningioma MONDO:0003772 NCIT:C4960 NCIT:C4807 cerebral meningioma MONDO:0004024 spinal cord neuroblastoma MONDO:0002749 NCIT:C5155 NCIT:C5437 extracranial neuroblastoma MONDO:0004024 spinal cord neuroblastoma MONDO:0003544 NCIT:C5155 NCIT:C3572 spinal cord cancer -MONDO:0004026 skin tag MONDO:0060765 NCIT:C3374 NCIT:C3337 fibroepithelial polyp MONDO:0004028 small intestinal fibrosarcoma MONDO:0003361 NCIT:C5336 NCIT:C5335 small intestinal sarcoma MONDO:0004030 ureter transitional cell carcinoma MONDO:0006481 NCIT:C4830 NCIT:C8993 ureter carcinoma MONDO:0004030 ureter transitional cell carcinoma MONDO:0020654 NCIT:C4830 NCIT:C7716 renal pelvis/ureter urothelial carcinoma @@ -2169,7 +1731,6 @@ MONDO:0004040 urinary bladder inverted papilloma MONDO:0021109 NCIT:C39859 NCIT: MONDO:0004040 urinary bladder inverted papilloma MONDO:0044906 NCIT:C39859 NCIT:C39858 bladder urothelial papilloma MONDO:0004041 urothelial papilloma MONDO:0003443 NCIT:C3842 NCIT:C27883 papillary urothelial neoplasm MONDO:0004041 urothelial papilloma MONDO:0003755 NCIT:C3842 NCIT:C39854 urinary tract non-invasive transitional cell neoplasm -MONDO:0004041 urothelial papilloma MONDO:0004180 NCIT:C3842 NCIT:C4893 benign urinary system neoplasm MONDO:0004041 urothelial papilloma MONDO:0005605 NCIT:C3842 NCIT:C4115 transitional cell papilloma MONDO:0004042 urethra inverted papilloma MONDO:0002221 NCIT:C6173 NCIT:C5061 urethral urothelial papilloma MONDO:0004042 urethra inverted papilloma MONDO:0021109 NCIT:C6173 NCIT:C6192 inverted urothelial papilloma @@ -2246,7 +1807,6 @@ MONDO:0004107 splenic manifestation of leukemia MONDO:0005966 NCIT:C7296 NCIT:C3 MONDO:0004109 epiglottis neoplasm MONDO:0004427 NCIT:C4933 NCIT:C6793 supraglottis neoplasm MONDO:0004110 refractory hairy cell leukemia MONDO:0018935 NCIT:C8030 NCIT:C7402 hairy cell leukemia MONDO:0004111 refractory hematologic cancer MONDO:0044881 NCIT:C27357 NCIT:C27134 hematopoietic and lymphoid cell neoplasm -MONDO:0004112 radiation cystitis MONDO:0006032 NCIT:C123174 NCIT:C26738 cystitis MONDO:0004120 Bartholin gland small cell carcinoma MONDO:0002829 NCIT:C40298 NCIT:C9055 bartholin gland carcinoma MONDO:0004122 thymus small cell carcinoma MONDO:0020516 NCIT:C6460 NCIT:C171031 thymic neuroendocrine carcinoma MONDO:0004124 prostate stromal sarcoma MONDO:0002854 NCIT:C5524 NCIT:C7731 prostate sarcoma @@ -2262,7 +1822,6 @@ MONDO:0004131 anal verrucous carcinoma MONDO:0006082 NCIT:C7470 NCIT:C9161 anal MONDO:0004132 anal canal squamous cell carcinoma MONDO:0006082 NCIT:C7469 NCIT:C9161 anal squamous cell carcinoma MONDO:0004132 anal canal squamous cell carcinoma MONDO:0007108 NCIT:C7469 NCIT:C7489 anal canal carcinoma MONDO:0004136 ovarian endometrioid cystadenoma MONDO:0005183 NCIT:C40075 NCIT:C4060 ovarian cystadenoma -MONDO:0004139 normocytic anemia MONDO:0002280 NCIT:C35142 NCIT:C2869 anemia MONDO:0004141 melanomatosis MONDO:0005105 NCIT:C9499 NCIT:C3224 melanoma MONDO:0004142 lung combined large cell neuroendocrine carcinoma MONDO:0003960 NCIT:C7267 NCIT:C5672 pulmonary large cell neuroendocrine carcinoma MONDO:0004142 lung combined large cell neuroendocrine carcinoma MONDO:0006167 NCIT:C7267 NCIT:C7591 combined lung carcinoma @@ -2280,26 +1839,19 @@ MONDO:0004162 uterine corpus cellular leiomyoma MONDO:0007886 NCIT:C40163 NCIT:C MONDO:0004163 bladder urachal urothelial carcinoma MONDO:0003715 NCIT:C39844 NCIT:C39842 bladder urachal carcinoma MONDO:0004163 bladder urachal urothelial carcinoma MONDO:0005611 NCIT:C39844 NCIT:C39851 bladder transitional cell carcinoma MONDO:0004164 lymphoepithelioma-like acinar prostate adenocarcinoma MONDO:0002493 NCIT:C39885 NCIT:C5596 prostatic acinar adenocarcinoma -MONDO:0004165 selective IgD deficiency disease MONDO:0003739 NCIT:C27144 NCIT:C27870 selective immunoglobulin deficiency disease MONDO:0004166 hereditary fallopian tube carcinoma MONDO:0006206 NCIT:C40455 NCIT:C3867 fallopian tube carcinoma MONDO:0004168 cribriform variant testicular seminoma MONDO:0003669 NCIT:C40957 NCIT:C7328 testicular seminoma MONDO:0004174 secretory uterine corpus endometrioid adenocarcinoma MONDO:0006192 NCIT:C27839 NCIT:C6287 endometrial endometrioid adenocarcinoma MONDO:0004176 childhood extraosseous osteosarcoma MONDO:0002621 NCIT:C27376 NCIT:C8810 extraosseous osteosarcoma MONDO:0004176 childhood extraosseous osteosarcoma MONDO:0002623 NCIT:C27376 NCIT:C6585 pediatric osteosarcoma -MONDO:0004177 benign urethral neoplasm MONDO:0004180 NCIT:C3619 NCIT:C4893 benign urinary system neoplasm MONDO:0004177 benign urethral neoplasm MONDO:0021239 NCIT:C3619 NCIT:C3428 urethra neoplasm MONDO:0004178 testicular yolk sac tumor, endodermal sinus pattern MONDO:0003402 NCIT:C39927 NCIT:C8000 testicular yolk sac tumor MONDO:0004180 benign urinary system neoplasm MONDO:0021066 NCIT:C4893 NCIT:C3431 urinary system neoplasm -MONDO:0004181 breast adenomyoepithelial adenosis MONDO:0003725 NCIT:C40391 NCIT:C3484 breast adenosis -MONDO:0004183 axonal neuropathy MONDO:0005244 NCIT:C27301 NCIT:C4731 peripheral neuropathy -MONDO:0004184 urethral disorder MONDO:0002118 NCIT:C26903 NCIT:C3430 urinary system disorder MONDO:0004185 ovarian serous cystadenofibroma MONDO:0003464 NCIT:C40032 NCIT:C8985 cystadenofibroma MONDO:0004185 ovarian serous cystadenofibroma MONDO:0006340 NCIT:C40032 NCIT:C40031 ovarian serous adenofibroma MONDO:0004186 cranial nodular fasciitis MONDO:0004187 NCIT:C27248 NCIT:C3827 nodular fasciitis MONDO:0004188 iris spindle cell melanoma MONDO:0003744 NCIT:C6098 NCIT:C7986 spindle cell intraocular melanoma MONDO:0004188 iris spindle cell melanoma MONDO:0004064 NCIT:C6098 NCIT:C9088 iris melanoma -MONDO:0004190 nephrogenic adenoma of urinary bladder MONDO:0004191 NCIT:C7415 NCIT:C7413 nephrogenic adenoma -MONDO:0004192 urethra cancer MONDO:0006295 NCIT:C7507 NCIT:C9297 malignant urinary system neoplasm MONDO:0004192 urethra cancer MONDO:0021239 NCIT:C7507 NCIT:C3428 urethra neoplasm MONDO:0004193 pediatric ovarian dysgerminoma MONDO:0003481 NCIT:C6550 NCIT:C8106 dysgerminoma of ovary MONDO:0004196 rectal sarcomatoid carcinoma MONDO:0044937 NCIT:C5556 NCIT:C9382 rectal carcinoma @@ -2308,8 +1860,6 @@ MONDO:0004198 testicular yolk sac tumor, solid pattern MONDO:0003402 NCIT:C39925 MONDO:0004199 vulvar keratinizing squamous cell carcinoma MONDO:0005056 NCIT:C40284 NCIT:C4105 keratinizing squamous cell carcinoma MONDO:0004199 vulvar keratinizing squamous cell carcinoma MONDO:0024609 NCIT:C40284 NCIT:C4052 vulvar squamous cell carcinoma MONDO:0004203 female urethral cancer MONDO:0004192 NCIT:C39866 NCIT:C7507 urethra cancer -MONDO:0004204 squamous cell skin papilloma MONDO:0001825 NCIT:C4462 NCIT:C3712 squamous papilloma -MONDO:0004204 squamous cell skin papilloma MONDO:0002536 NCIT:C4462 NCIT:C4614 skin papilloma MONDO:0004205 lymphohistiocytoid mesothelioma MONDO:0006407 NCIT:C27779 NCIT:C45655 sarcomatoid mesothelioma MONDO:0004209 cerebral primitive neuroectodermal tumor MONDO:0002731 NCIT:C4970 NCIT:C4577 cerebral hemisphere cancer MONDO:0004209 cerebral primitive neuroectodermal tumor MONDO:0003145 NCIT:C4970 NCIT:C6968 supratentorial primitive neuroectodermal tumor @@ -2328,10 +1878,8 @@ MONDO:0004220 endometrial endometrioid adenocarcinoma with spindled epithelial c MONDO:0004221 uterine corpus perivascular epithelioid cell tumor MONDO:0006359 NCIT:C40180 NCIT:C38150 neoplasm with perivascular epithelioid cell differentiation MONDO:0004222 ovarian clear cell cystadenocarcinoma MONDO:0002702 NCIT:C7980 NCIT:C5228 ovarian cystadenocarcinoma MONDO:0004222 ovarian clear cell cystadenocarcinoma MONDO:0006045 NCIT:C7980 NCIT:C40078 ovarian clear cell adenocarcinoma -MONDO:0004224 chronic metabolic polyneuropathy MONDO:0003335 NCIT:C35602 NCIT:C36071 chronic polyneuropathy MONDO:0004227 epididymal adenomatoid tumor MONDO:0021473 NCIT:C6382 NCIT:C3614 benign neoplasm of epididymis MONDO:0004229 acantholytic variant squamous cell breast carcinoma MONDO:0006056 NCIT:C40359 NCIT:C5177 squamous cell breast carcinoma -MONDO:0004230 adenomatoid tumor MONDO:0005065 NCIT:C3762 NCIT:C3234 mesothelioma MONDO:0004231 spindle cell variant squamous cell breast carcinoma MONDO:0006056 NCIT:C40358 NCIT:C5177 squamous cell breast carcinoma MONDO:0004231 spindle cell variant squamous cell breast carcinoma MONDO:0021663 NCIT:C40358 NCIT:C27084 sarcomatoid squamous cell carcinoma MONDO:0004232 large cell keratinizing variant squamous cell breast carcinoma MONDO:0005056 NCIT:C40357 NCIT:C4105 keratinizing squamous cell carcinoma @@ -2361,14 +1909,12 @@ MONDO:0004261 periductal breast myoepitheliosis MONDO:0004262 NCIT:C40388 NCIT:C MONDO:0004262 breast myoepitheliosis MONDO:0002483 NCIT:C40385 NCIT:C40389 breast myoepithelial tumor MONDO:0004263 pediatric infratentorial ependymoblastoma MONDO:0002915 NCIT:C6773 NCIT:C5802 childhood infratentorial neoplasm MONDO:0004263 pediatric infratentorial ependymoblastoma MONDO:0003107 NCIT:C6773 NCIT:C4966 infratentorial cancer -MONDO:0004265 acute endometritis MONDO:0000918 NCIT:C27022 NCIT:C26764 endometritis MONDO:0004267 squamous papillomatosis MONDO:0021098 NCIT:C9009 NCIT:C3713 papillomatosis MONDO:0004270 breast ductal adenoma MONDO:0002058 NCIT:C40384 NCIT:C40382 breast adenoma MONDO:0004273 breast apocrine adenoma MONDO:0002058 NCIT:C40383 NCIT:C40382 breast adenoma MONDO:0004274 mixed epithelial/mesenchymal metaplastic breast carcinoma MONDO:0006043 NCIT:C40364 NCIT:C5164 metaplastic breast carcinoma MONDO:0004276 ceruminoma MONDO:0002804 NCIT:C6088 NCIT:C4168 apocrine adenoma MONDO:0004278 infiltrating bladder urothelial carcinoma sarcomatoid variant MONDO:0003890 NCIT:C39824 NCIT:C27885 infiltrating bladder urothelial carcinoma -MONDO:0004279 glossopharyngeal motor neuropathy MONDO:0002316 NCIT:C27212 NCIT:C3500 motor peripheral neuropathy MONDO:0004281 vulvar eccrine porocarcinoma MONDO:0003861 NCIT:C40306 NCIT:C40305 vulvar eccrine adenocarcinoma MONDO:0004281 vulvar eccrine porocarcinoma MONDO:0006189 NCIT:C40306 NCIT:C5560 eccrine porocarcinoma MONDO:0004283 vulvar clear cell hidradenocarcinoma MONDO:0006245 NCIT:C40307 NCIT:C54664 hidradenocarcinoma @@ -2391,8 +1937,6 @@ MONDO:0004296 cervical lymphoepithelioma-like carcinoma MONDO:0003572 NCIT:C4019 MONDO:0004296 cervical lymphoepithelioma-like carcinoma MONDO:0006143 NCIT:C40193 NCIT:C4028 cervical squamous cell carcinoma MONDO:0004297 lymphoepithelioma-like thymic carcinoma MONDO:0003572 NCIT:C7998 NCIT:C4107 nasopharyngeal type undifferentiated carcinoma MONDO:0004297 lymphoepithelioma-like thymic carcinoma MONDO:0006451 NCIT:C7998 NCIT:C7569 thymic carcinoma -MONDO:0004298 stomach disorder MONDO:0004335 NCIT:C26886 NCIT:C2990 digestive system disorder -MONDO:0004299 infiltrating bladder lymphoepithelioma-like carcinoma MONDO:0003572 NCIT:C39821 NCIT:C4107 nasopharyngeal type undifferentiated carcinoma MONDO:0004299 infiltrating bladder lymphoepithelioma-like carcinoma MONDO:0003890 NCIT:C39821 NCIT:C27885 infiltrating bladder urothelial carcinoma MONDO:0004301 fibrosarcomatous osteosarcoma MONDO:0002631 NCIT:C4020 NCIT:C35870 conventional osteosarcoma MONDO:0004302 chief cell adenoma MONDO:0006890 NCIT:C4154 NCIT:C156757 parathyroid gland adenoma @@ -2402,7 +1946,6 @@ MONDO:0004304 mixed cell type adenoma of parathyroid MONDO:0003421 NCIT:C7994 NC MONDO:0004304 mixed cell type adenoma of parathyroid MONDO:0006890 NCIT:C7994 NCIT:C156757 parathyroid gland adenoma MONDO:0004305 parathyroid oncocytic adenoma MONDO:0003424 NCIT:C27393 NCIT:C3759 oncocytic adenoma MONDO:0004305 parathyroid oncocytic adenoma MONDO:0006890 NCIT:C27393 NCIT:C156757 parathyroid gland adenoma -MONDO:0004306 childhood intracortical osteosarcoma MONDO:0002623 NCIT:C6590 NCIT:C6585 pediatric osteosarcoma MONDO:0004306 childhood intracortical osteosarcoma MONDO:0002631 NCIT:C6590 NCIT:C35870 conventional osteosarcoma MONDO:0004307 sarcomatosis of the meninges MONDO:0004308 NCIT:C4334 NCIT:C4073 meningeal sarcoma MONDO:0004307 sarcomatosis of the meninges MONDO:0004309 NCIT:C4334 NCIT:C4243 sarcomatosis @@ -2445,7 +1988,6 @@ MONDO:0004341 colloid carcinoma of the pancreas MONDO:0005184 NCIT:C37214 NCIT:C MONDO:0004343 pancreatic acinar cell cystadenocarcinoma MONDO:0002867 NCIT:C5727 NCIT:C3874 pancreatic cystadenocarcinoma MONDO:0004343 pancreatic acinar cell cystadenocarcinoma MONDO:0006346 NCIT:C5727 NCIT:C7977 pancreatic acinar cell carcinoma MONDO:0004344 childhood malignant hemangiopericytoma MONDO:0009330 NCIT:C8090 NCIT:C4301 hemangiopericytoma, malignant -MONDO:0004345 childhood malignant schwannoma MONDO:0006517 NCIT:C8094 NCIT:C4005 childhood malignant neoplasm MONDO:0004345 childhood malignant schwannoma MONDO:0017827 NCIT:C8094 NCIT:C3798 malignant peripheral nerve sheath tumor MONDO:0004346 signet ring cell intrahepatic cholangiocarcinoma MONDO:0003210 NCIT:C41619 NCIT:C35417 intrahepatic cholangiocarcinoma MONDO:0004349 retina lymphoma MONDO:0003072 NCIT:C4365 NCIT:C3216 retinal cancer @@ -2471,10 +2013,8 @@ MONDO:0004367 petroclival meningioma MONDO:0002998 NCIT:C5278 NCIT:C5272 skull b MONDO:0004368 sphenoorbital meningioma MONDO:0002998 NCIT:C5285 NCIT:C5272 skull base meningioma MONDO:0004370 sphenocavernous meningioma MONDO:0002998 NCIT:C5313 NCIT:C5272 skull base meningioma MONDO:0004371 spinal multifocal clear cell meningioma MONDO:0002918 NCIT:C5287 NCIT:C4722 clear cell meningioma -MONDO:0004372 chronic toxic polyneuropathy MONDO:0003335 NCIT:C35603 NCIT:C36071 chronic polyneuropathy MONDO:0004373 adult papillary meningioma MONDO:0021088 NCIT:C8293 NCIT:C3904 papillary meningioma MONDO:0004374 adult extraskeletal osteosarcoma MONDO:0002621 NCIT:C7925 NCIT:C8810 extraosseous osteosarcoma -MONDO:0004375 end stage renal failure MONDO:0005300 NCIT:C9439 NCIT:C80078 chronic kidney disease MONDO:0004377 pancreatic non-functioning delta cell tumor MONDO:0002994 NCIT:C28333 NCIT:C28396 pancreatic delta cell neuroendocrine tumor MONDO:0004377 pancreatic non-functioning delta cell tumor MONDO:0004334 NCIT:C28333 NCIT:C45837 non-functional pancreatic neuroendocrine tumor MONDO:0004379 female breast carcinoma MONDO:0004989 NCIT:C2918 NCIT:C4872 breast carcinoma @@ -2484,8 +2024,6 @@ MONDO:0004383 adult central nervous system germinoma MONDO:0003405 NCIT:C5792 NC MONDO:0004384 maxillary sinus inverted papilloma MONDO:0004457 NCIT:C6840 NCIT:C6839 maxillary sinus Schneiderian papilloma MONDO:0004386 uterine corpus atypical polypoid adenomyoma MONDO:0003236 NCIT:C40235 NCIT:C6895 atypical polypoid adenomyoma MONDO:0004386 uterine corpus atypical polypoid adenomyoma MONDO:0003237 NCIT:C40235 NCIT:C6338 adenomyoma of uterine corpus -MONDO:0004387 luteoma of pregnancy MONDO:0024575 NCIT:C40445 NCIT:C35169 pregnancy disorder -MONDO:0004392 intracranial extraskeletal myxoid chondrosarcoma MONDO:0002217 NCIT:C5462 NCIT:C5153 central nervous system sarcoma MONDO:0004392 intracranial extraskeletal myxoid chondrosarcoma MONDO:0012825 NCIT:C5462 NCIT:C27502 extraskeletal myxoid chondrosarcoma MONDO:0004393 mixed astrocytoma-ependymoma MONDO:0003268 NCIT:C8271 NCIT:C3903 mixed glioma MONDO:0004394 maxillary sinus squamous cell carcinoma MONDO:0001748 NCIT:C6064 NCIT:C9332 maxillary sinus carcinoma @@ -2508,12 +2046,10 @@ MONDO:0004408 schwannian stroma-rich and stroma-poor composite ganglioneuroblast MONDO:0004410 sarcomatoid penile squamous cell carcinoma MONDO:0021663 NCIT:C6984 NCIT:C27084 sarcomatoid squamous cell carcinoma MONDO:0004411 duodenal gastrin-producing neuroendocrine tumor MONDO:0015063 NCIT:C5731 NCIT:C135080 duodenal neuroendocrine tumor, well differentiated, low or intermediate grade MONDO:0004413 cervical non-keratinizing squamous cell carcinoma MONDO:0006143 NCIT:C40188 NCIT:C4028 cervical squamous cell carcinoma -MONDO:0004414 tamoxifen-related endometrial lesion MONDO:0000931 NCIT:C40159 NCIT:C3504 endometrial disorder MONDO:0004415 lipid-cell variant infiltrating bladder urothelial carcinoma MONDO:0003890 NCIT:C39828 NCIT:C27885 infiltrating bladder urothelial carcinoma MONDO:0004416 plasmacytoid variant infiltrating bladder urothelial carcinoma MONDO:0003890 NCIT:C39823 NCIT:C27885 infiltrating bladder urothelial carcinoma MONDO:0004417 nested variant infiltrating bladder urothelial carcinoma MONDO:0003890 NCIT:C39819 NCIT:C27885 infiltrating bladder urothelial carcinoma MONDO:0004418 microcystic variant infiltrating bladder urothelial carcinoma MONDO:0003890 NCIT:C39820 NCIT:C27885 infiltrating bladder urothelial carcinoma -MONDO:0004419 lymphoma-like variant infiltrating bladder urothelial carcinoma MONDO:0003890 NCIT:C39822 NCIT:C27885 infiltrating bladder urothelial carcinoma MONDO:0004420 breast malignant eccrine spiradenoma MONDO:0004412 NCIT:C5180 NCIT:C5117 malignant spiradenoma MONDO:0004421 sclerosing breast papilloma MONDO:0021097 NCIT:C27944 NCIT:C3863 intraductal breast papilloma MONDO:0004422 cerebral falx meningioma MONDO:0002997 NCIT:C5267 NCIT:C5286 anterior cranial fossa meningioma @@ -2522,9 +2058,9 @@ MONDO:0004423 central nervous system extraskeletal osteosarcoma MONDO:0002621 NC MONDO:0004426 frontal convexity meningioma MONDO:0003774 NCIT:C5292 NCIT:C4959 cerebral convexity meningioma MONDO:0004427 supraglottis neoplasm MONDO:0021071 NCIT:C6793 NCIT:C3156 laryngeal neoplasm MONDO:0004428 alveoli adenoma MONDO:0003422 NCIT:C4140 NCIT:C4455 lung adenoma +MONDO:0004430 penis mixed squamous cell carcinoma MONDO:0018352 NCIT:C39959 NCIT:C7729 squamous cell carcinoma of penis MONDO:0004432 mature pericardial teratoma MONDO:0003517 NCIT:C6744 NCIT:C9015 mature teratoma MONDO:0004433 papillary carcinoma of the penis MONDO:0002979 NCIT:C6983 NCIT:C4102 papillary squamous carcinoma -MONDO:0004433 papillary carcinoma of the penis MONDO:0018352 NCIT:C6983 NCIT:C7729 squamous cell carcinoma of penis MONDO:0004435 liver fibrosarcoma MONDO:0002397 NCIT:C5832 NCIT:C4437 liver sarcoma MONDO:0004436 ovarian myxoid liposarcoma MONDO:0003589 NCIT:C5235 NCIT:C6419 liposarcoma of the ovary MONDO:0004436 ovarian myxoid liposarcoma MONDO:0013280 NCIT:C5235 NCIT:C27781 myxoid liposarcoma @@ -2555,14 +2091,12 @@ MONDO:0004460 thyroid gland fetal adenoma MONDO:0005032 NCIT:C4160 NCIT:C3502 fo MONDO:0004461 vaginal tubulovillous adenoma MONDO:0003434 NCIT:C40258 NCIT:C40256 vaginal adenoma MONDO:0004462 extrahepatic bile duct cystadenoma MONDO:0003420 NCIT:C5851 NCIT:C4129 bile duct cystadenoma MONDO:0004463 cellular phase chronic idiopathic myelofibrosis MONDO:0009692 NCIT:C41237 NCIT:C2862 primary myelofibrosis -MONDO:0004464 nephrogenic adenoma of the urethra MONDO:0004191 NCIT:C7416 NCIT:C7413 nephrogenic adenoma MONDO:0004467 mature gastric teratoma MONDO:0003513 NCIT:C5260 NCIT:C5259 gastric teratoma MONDO:0004467 mature gastric teratoma MONDO:0003517 NCIT:C5260 NCIT:C9015 mature teratoma MONDO:0004468 anal canal Paget disease MONDO:0002651 NCIT:C7477 NCIT:C5598 anal Paget disease MONDO:0004468 anal canal Paget disease MONDO:0002735 NCIT:C7477 NCIT:C7471 anal canal adenocarcinoma MONDO:0004469 pseudovascular skin squamous cell carcinoma MONDO:0002529 NCIT:C27542 NCIT:C4819 skin squamous cell carcinoma MONDO:0004469 pseudovascular skin squamous cell carcinoma MONDO:0005056 NCIT:C27542 NCIT:C4105 keratinizing squamous cell carcinoma -MONDO:0004471 bacterial arthritis MONDO:0042485 NCIT:C26699 NCIT:C26700 infective arthritis MONDO:0004472 breast columnar cell mucinous carcinoma MONDO:0002707 NCIT:C40355 NCIT:C9131 breast mucinous carcinoma MONDO:0004473 epiglottis cancer MONDO:0004109 NCIT:C4836 NCIT:C4933 epiglottis neoplasm MONDO:0004473 epiglottis cancer MONDO:0004357 NCIT:C35697 NCIT:C5973 carcinoma of supraglottis @@ -2580,7 +2114,6 @@ MONDO:0004483 thyroid gland oncocytic adenoma MONDO:0003424 NCIT:C6042 NCIT:C375 MONDO:0004483 thyroid gland oncocytic adenoma MONDO:0005032 NCIT:C6042 NCIT:C3502 follicular thyroid adenoma MONDO:0004484 gallbladder melanoma MONDO:0005411 NCIT:C5735 NCIT:C7481 gallbladder cancer MONDO:0004484 gallbladder melanoma MONDO:0045070 NCIT:C5735 NCIT:C7091 digestive system melanoma -MONDO:0004485 interstitial myocarditis MONDO:0004496 NCIT:C35786 NCIT:C34831 myocarditis MONDO:0004486 endocervical type cervical adenomyoma MONDO:0003238 NCIT:C40232 NCIT:C40231 cervical adenomyoma MONDO:0004487 endometrial type cervical adenomyoma MONDO:0003238 NCIT:C40233 NCIT:C40231 cervical adenomyoma MONDO:0004488 cervical atypical polypoid adenomyoma MONDO:0003238 NCIT:C40234 NCIT:C40231 cervical adenomyoma @@ -2588,10 +2121,6 @@ MONDO:0004489 fallopian tube gestational choriocarcinoma MONDO:0006206 NCIT:C627 MONDO:0004489 fallopian tube gestational choriocarcinoma MONDO:0020550 NCIT:C6278 NCIT:C4646 gestational choriocarcinoma MONDO:0004493 testicular yolk sac tumor, papillary pattern MONDO:0003402 NCIT:C39928 NCIT:C8000 testicular yolk sac tumor MONDO:0004494 testicular yolk sac tumor, hepatoid pattern MONDO:0003402 NCIT:C39931 NCIT:C8000 testicular yolk sac tumor -MONDO:0004495 myotonic cataract MONDO:0005129 NCIT:C34833 NCIT:C26713 cataract -MONDO:0004495 myotonic cataract MONDO:0016107 NCIT:C34833 NCIT:C84914 myotonic dystrophy -MONDO:0004496 myocarditis MONDO:0024643 NCIT:C34831 NCIT:C35544 myocardial disorder -MONDO:0004497 tertiary syphilis MONDO:0005976 NCIT:C128414 NCIT:C35055 syphilis MONDO:0004498 sacral spinal canal and spinal cord meningioma MONDO:0001279 NCIT:C5299 NCIT:C5134 intraspinal meningioma MONDO:0004499 lung hilum carcinoma MONDO:0004332 NCIT:C7454 NCIT:C4566 lung hilum cancer MONDO:0004499 lung hilum carcinoma MONDO:0005138 NCIT:C7454 NCIT:C4878 lung carcinoma @@ -2608,23 +2137,17 @@ MONDO:0004510 inflammatory liposarcoma MONDO:0006097 NCIT:C6508 NCIT:C6505 atypi MONDO:0004511 lower clivus meningioma MONDO:0003908 NCIT:C5288 NCIT:C5289 clivus meningioma MONDO:0004512 meningeal melanomatosis MONDO:0004141 NCIT:C6891 NCIT:C9499 melanomatosis MONDO:0004513 adult pleomorphic rhabdomyosarcoma MONDO:0017386 NCIT:C27369 NCIT:C4258 pleomorphic rhabdomyosarcoma -MONDO:0004514 chronic rhinitis MONDO:0003014 NCIT:C34479 NCIT:C34986 rhinitis MONDO:0004516 bulbomembranous urethral cancer MONDO:0004197 NCIT:C39869 NCIT:C39867 male urethral cancer MONDO:0004518 anterior urethra cancer MONDO:0004192 NCIT:C7641 NCIT:C7507 urethra cancer MONDO:0004519 synovial angioma MONDO:0006500 NCIT:C6525 NCIT:C3085 hemangioma MONDO:0004519 synovial angioma MONDO:0024715 NCIT:C6525 NCIT:C3829 benign synovial neoplasm -MONDO:0004520 intratubular embryonal carcinoma MONDO:0006446 NCIT:C7325 NCIT:C6341 testicular embryonal carcinoma MONDO:0004521 adult epithelioid sarcoma MONDO:0017387 NCIT:C7944 NCIT:C3714 epithelioid sarcoma MONDO:0004523 clear cell squamous cell skin carcinoma MONDO:0002529 NCIT:C4459 NCIT:C4819 skin squamous cell carcinoma MONDO:0004523 clear cell squamous cell skin carcinoma MONDO:0005056 NCIT:C4459 NCIT:C4105 keratinizing squamous cell carcinoma -MONDO:0004525 scabies MONDO:0021201 NCIT:C34998 NCIT:C35025 skin infection MONDO:0004528 lymph node palisaded myofibroblastoma MONDO:0040675 NCIT:C6584 NCIT:C49012 myofibroblastoma MONDO:0004529 non-ossifying fibromyxoid tumor MONDO:0037745 NCIT:C6583 NCIT:C66760 fibromyxoid tumor MONDO:0004530 early invasive cervical adenocarcinoma MONDO:0005153 NCIT:C36096 NCIT:C4029 cervical adenocarcinoma -MONDO:0004531 sclerosing adenosis of breast MONDO:0002585 NCIT:C5205 NCIT:C6940 breast fibrocystic change, proliferative type -MONDO:0004531 sclerosing adenosis of breast MONDO:0003725 NCIT:C5205 NCIT:C3484 breast adenosis MONDO:0004533 perineural angioma MONDO:0003096 NCIT:C6526 NCIT:C6555 deep hemangioma -MONDO:0004534 microglandular adenosis of breast MONDO:0003725 NCIT:C5199 NCIT:C3484 breast adenosis MONDO:0004535 childhood choriocarcinoma of the ovary MONDO:0004322 NCIT:C6549 NCIT:C39991 non-gestational ovarian choriocarcinoma MONDO:0004537 intestinal variant cervical mucinous adenocarcinoma MONDO:0002742 NCIT:C40203 NCIT:C36095 cervical mucinous adenocarcinoma MONDO:0004537 intestinal variant cervical mucinous adenocarcinoma MONDO:0006254 NCIT:C40203 NCIT:C4126 intestinal type adenocarcinoma @@ -2645,30 +2168,21 @@ MONDO:0004554 childhood kidney angiomyolipoma MONDO:0002730 NCIT:C6565 NCIT:C656 MONDO:0004554 childhood kidney angiomyolipoma MONDO:0004555 NCIT:C6565 NCIT:C3888 kidney angiomyolipoma MONDO:0004555 kidney angiomyolipoma MONDO:0002603 NCIT:C3888 NCIT:C3734 angiomyolipoma MONDO:0004556 carcinoma arising in nasal papillomatosis MONDO:0003212 NCIT:C27389 NCIT:C9336 nasal cavity carcinoma +MONDO:0004557 congenital fibrosarcoma MONDO:0002678 NCIT:C4244 NCIT:C8088 pediatric fibrosarcoma MONDO:0004558 thyroid gland macrofollicular adenoma MONDO:0005032 NCIT:C4161 NCIT:C3502 follicular thyroid adenoma MONDO:0004559 malignant glandular tumor of peripheral nerve sheath MONDO:0017827 NCIT:C6560 NCIT:C3798 malignant peripheral nerve sheath tumor MONDO:0004561 retinal melanoma MONDO:0003072 NCIT:C8601 NCIT:C3216 retinal cancer MONDO:0004561 retinal melanoma MONDO:0006325 NCIT:C8601 NCIT:C8562 ocular melanoma -MONDO:0004568 paralytic ileus MONDO:0004567 NCIT:C93045 NCIT:C37979 ileus -MONDO:0004574 pyridoxine deficiency anemia MONDO:0042976 NCIT:C85221 NCIT:C35129 vitamin B deficiency -MONDO:0004583 transient retinal arterial occlusion MONDO:0006948 NCIT:C35193 NCIT:C34978 retinal artery occlusion -MONDO:0004588 night blindness MONDO:0001941 NCIT:C34850 NCIT:C97109 blindness (disorder) -MONDO:0004592 impetigo MONDO:0021201 NCIT:C99088 NCIT:C35025 skin infection MONDO:0004604 Hodgkin's lymphoma, lymphocytic-histiocytic predominance MONDO:0009348 NCIT:C6913 NCIT:C7164 classic Hodgkin lymphoma MONDO:0004608 oropharynx cancer MONDO:0005517 NCIT:C7398 NCIT:C7545 pharynx cancer MONDO:0004608 oropharynx cancer MONDO:0021364 NCIT:C7398 NCIT:C3291 neoplasm of oropharynx MONDO:0004611 soft palate cancer MONDO:0004608 NCIT:C3529 NCIT:C7398 oropharynx cancer -MONDO:0004613 acute intestinal ischemia MONDO:0020675 NCIT:C34356 NCIT:C35212 ischemic bowel disorder -MONDO:0004616 herpetic whitlow MONDO:0005898 NCIT:C128402 NCIT:C79702 paronychia MONDO:0004624 uvula cancer MONDO:0004611 NCIT:C35177 NCIT:C3529 soft palate cancer -MONDO:0004625 phlebitis MONDO:0004634 NCIT:C38003 NCIT:C35279 vein disorder -MONDO:0004627 duodenitis MONDO:0043579 NCIT:C94409 NCIT:C26765 enteritis MONDO:0004631 tongue cancer MONDO:0005515 NCIT:C9345 NCIT:C9314 oral cavity cancer MONDO:0004631 tongue cancer MONDO:0021240 NCIT:C9345 NCIT:C3416 tongue neoplasm MONDO:0004633 Hodgkin's lymphoma, mixed cellularity MONDO:0009348 NCIT:C3517 NCIT:C7164 classic Hodgkin lymphoma MONDO:0004635 postcricoid region cancer MONDO:0005806 NCIT:C9323 NCIT:C7190 hypopharynx cancer MONDO:0004636 lip carcinoma in situ MONDO:0021333 NCIT:C4588 NCIT:C3490 carcinoma of lip -MONDO:0004640 alcoholic gastritis MONDO:0004966 NCIT:C26977 NCIT:C26780 gastritis MONDO:0004641 skin carcinoma in situ MONDO:0002656 NCIT:C3640 NCIT:C4914 skin carcinoma MONDO:0004641 skin carcinoma in situ MONDO:0004647 NCIT:C3640 NCIT:C2917 in situ carcinoma MONDO:0004643 myeloid leukemia MONDO:0005059 NCIT:C3172 NCIT:C3161 leukemia @@ -2676,98 +2190,48 @@ MONDO:0004645 cheek mucosa cancer MONDO:0005515 NCIT:C9320 NCIT:C9314 oral cavit MONDO:0004645 cheek mucosa cancer MONDO:0021241 NCIT:C9320 NCIT:C4405 buccal mucosa neoplasm MONDO:0004647 in situ carcinoma MONDO:0004993 NCIT:C2917 NCIT:C2916 carcinoma MONDO:0004647 in situ carcinoma MONDO:0021074 NCIT:C2917 NCIT:C3341 precancerous condition -MONDO:0004648 vascular dementia MONDO:0001627 NCIT:C34525 NCIT:C4786 dementia -MONDO:0004650 malignant carotid body paraganglioma MONDO:0005627 NCIT:C3574 NCIT:C4013 head and neck cancer MONDO:0004650 malignant carotid body paraganglioma MONDO:0021053 NCIT:C3574 NCIT:C2932 carotid body paraganglioma -MONDO:0004652 bacterial pneumonia MONDO:0005113 NCIT:C26704 NCIT:C2890 bacterial infectious disease -MONDO:0004652 bacterial pneumonia MONDO:0005249 NCIT:C26704 NCIT:C3333 pneumonia MONDO:0004653 atypical chronic myeloid leukemia, BCR-ABL1 negative MONDO:0006311 NCIT:C3519 NCIT:C27262 myelodysplastic/myeloproliferative neoplasm MONDO:0004658 breast carcinoma in situ MONDO:0004647 NCIT:C3641 NCIT:C2917 in situ carcinoma MONDO:0004660 lung carcinoma in situ MONDO:0004647 NCIT:C27467 NCIT:C2917 in situ carcinoma MONDO:0004661 trachea carcinoma in situ MONDO:0001419 NCIT:C3639 NCIT:C4448 trachea squamous cell carcinoma MONDO:0004661 trachea carcinoma in situ MONDO:0004693 NCIT:C3639 NCIT:C27093 squamous carcinoma in situ -MONDO:0004664 helminthiasis MONDO:0005135 NCIT:C84751 NCIT:C27864 parasitic infectious disease MONDO:0004665 nodular sclerosis classical Hodgkin lymphoma MONDO:0009348 NCIT:C3518 NCIT:C7164 classic Hodgkin lymphoma MONDO:0004667 sublingual gland cancer MONDO:0021242 NCIT:C3527 NCIT:C3392 sublingual gland neoplasm MONDO:0004667 sublingual gland cancer MONDO:0044743 NCIT:C3527 NCIT:C4762 major salivary gland cancer MONDO:0004669 salivary gland cancer MONDO:0005627 NCIT:C3811 NCIT:C4013 head and neck cancer MONDO:0004669 salivary gland cancer MONDO:0021357 NCIT:C3811 NCIT:C3361 tumor of salivary gland -MONDO:0004670 lupus erythematosus MONDO:0005554 NCIT:C27153 NCIT:C27204 rheumatic disorder -MONDO:0004670 lupus erythematosus MONDO:0007179 NCIT:C27153 NCIT:C2889 autoimmune disease MONDO:0004671 penis carcinoma in situ MONDO:0004693 NCIT:C27790 NCIT:C27093 squamous carcinoma in situ MONDO:0004671 penis carcinoma in situ MONDO:0018352 NCIT:C27790 NCIT:C7729 squamous cell carcinoma of penis -MONDO:0004674 chorioretinitis MONDO:0020283 NCIT:C110923 NCIT:C26909 uveitis MONDO:0004684 plantar fibromatosis MONDO:0016037 NCIT:C4680 NCIT:C6814 superficial Fibromatosis -MONDO:0004691 autosomal dominant polycystic kidney disease MONDO:0020642 NCIT:C84578 NCIT:C75464 polycystic kidney disease MONDO:0004693 squamous carcinoma in situ MONDO:0004647 NCIT:C27093 NCIT:C2917 in situ carcinoma MONDO:0004693 squamous carcinoma in situ MONDO:0005096 NCIT:C27093 NCIT:C2929 squamous cell carcinoma +MONDO:0004695 liver lymphoma MONDO:0002691 NCIT:C4949 NCIT:C34803 liver cancer MONDO:0004695 liver lymphoma MONDO:0004699 NCIT:C4949 NCIT:C38162 gastrointestinal lymphoma MONDO:0004696 larynx carcinoma in situ MONDO:0004647 NCIT:C9100 NCIT:C2917 in situ carcinoma -MONDO:0004697 esophageal leukoplakia MONDO:0043243 NCIT:C3953 NCIT:C3186 leukoplakia MONDO:0004699 gastrointestinal lymphoma MONDO:0002516 NCIT:C38162 NCIT:C4890 digestive system cancer MONDO:0004700 parotid gland cancer MONDO:0021243 NCIT:C3525 NCIT:C3314 parotid gland neoplasm MONDO:0004700 parotid gland cancer MONDO:0044743 NCIT:C3525 NCIT:C4762 major salivary gland cancer -MONDO:0004701 uterine polyp MONDO:0002654 NCIT:C3662 NCIT:C26907 uterine disorder -MONDO:0004701 uterine polyp MONDO:0005079 NCIT:C3662 NCIT:C3340 polyp MONDO:0004703 bladder carcinoma in situ MONDO:0003930 NCIT:C3644 NCIT:C6188 non-invasive bladder urothelial carcinoma MONDO:0004703 bladder carcinoma in situ MONDO:0006111 NCIT:C3644 NCIT:C37266 bladder flat intraepithelial lesion MONDO:0004709 occipital lobe neoplasm MONDO:0021374 NCIT:C5574 NCIT:C4874 neoplasm of cerebral hemisphere -MONDO:0004712 herpes simplex dermatitis MONDO:0021201 NCIT:C35620 NCIT:C35025 skin infection -MONDO:0004720 variola minor infection MONDO:0004651 NCIT:C34365 NCIT:C35027 smallpox MONDO:0004724 submandibular gland cancer MONDO:0006284 NCIT:C8396 NCIT:C5907 major salivary gland carcinoma -MONDO:0004730 speech disorder MONDO:0002182 NCIT:C5041 NCIT:C2958 communication disorder -MONDO:0004731 central sleep apnea syndrome MONDO:0002254 NCIT:C27169 NCIT:C28193 syndromic disease MONDO:0004733 pyriform sinus cancer MONDO:0005806 NCIT:C3531 NCIT:C7190 hypopharynx cancer -MONDO:0004737 homocystinuria MONDO:0037871 NCIT:C84765 NCIT:C97090 amino acid metabolism disease -MONDO:0004743 hyperhomocysteinemia MONDO:0004737 NCIT:C84770 NCIT:C84765 homocystinuria -MONDO:0004748 lip disorder MONDO:0006858 NCIT:C26818 NCIT:C3240 mouth disorder MONDO:0004749 myocardium cancer MONDO:0001340 NCIT:C4569 NCIT:C3548 heart cancer MONDO:0004749 myocardium cancer MONDO:0021380 NCIT:C4569 NCIT:C5349 neoplasm of myocardium MONDO:0004752 neurofibroma of the heart MONDO:0016755 NCIT:C5359 NCIT:C3272 neurofibroma MONDO:0004756 nasal cavity neoplasm MONDO:0002232 NCIT:C4413 NCIT:C27102 nasal cavity disorder -MONDO:0004757 chronic ethmoidal sinusitis MONDO:0005756 NCIT:C34472 NCIT:C34597 ethmoid sinusitis -MONDO:0004757 chronic ethmoidal sinusitis MONDO:0006031 NCIT:C34472 NCIT:C35151 chronic rhinosinusitis -MONDO:0004763 carotid artery dissection MONDO:0005269 NCIT:C125662 NCIT:C84476 carotid artery disorder -MONDO:0004766 status asthmaticus MONDO:0004979 NCIT:C122577 NCIT:C28397 asthma -MONDO:0004769 orbital plasma cell granuloma MONDO:0021167 NCIT:C117296 NCIT:C27578 myositis disease -MONDO:0004773 iridocyclitis MONDO:0006651 NCIT:C34736 NCIT:C35109 anterior uveitis -MONDO:0004777 acute laryngitis MONDO:0002647 NCIT:C26688 NCIT:C26811 laryngitis -MONDO:0004781 acute myocardial infarction MONDO:0005068 NCIT:C35204 NCIT:C27996 myocardial infarction -MONDO:0004786 chronic cholangitis MONDO:0004789 NCIT:C35335 NCIT:C26718 cholangitis MONDO:0004787 cervical mullerian papilloma MONDO:0000644 NCIT:C40215 NCIT:C3607 cervical benign neoplasm MONDO:0004788 cervix squamous papilloma MONDO:0000644 NCIT:C6342 NCIT:C3607 cervical benign neoplasm MONDO:0004788 cervix squamous papilloma MONDO:0001825 NCIT:C6342 NCIT:C3712 squamous papilloma -MONDO:0004789 cholangitis MONDO:0006322 NCIT:C26718 NCIT:C35774 non-neoplastic bile duct disorder -MONDO:0004795 otitis externa MONDO:0021666 NCIT:C3299 NCIT:C27193 ear infection -MONDO:0004796 infectious meningitis MONDO:0021108 NCIT:C79598 NCIT:C26828 meningitis -MONDO:0004796 infectious meningitis MONDO:0024619 NCIT:C79598 NCIT:C27582 central nervous system infectious disorder -MONDO:0004806 chronic eosinophilic pneumonia MONDO:0005749 NCIT:C34471 NCIT:C35150 eosinophilic pneumonia MONDO:0004815 osteosclerotic plasma cell myeloma MONDO:0009693 NCIT:C7765 NCIT:C3242 plasma cell myeloma MONDO:0004816 refractory plasma cell neoplasm MONDO:0004959 NCIT:C7813 NCIT:C4665 plasma cell neoplasm MONDO:0004817 non-secretory plasma cell myeloma MONDO:0009693 NCIT:C4734 NCIT:C3242 plasma cell myeloma MONDO:0004820 peripheral nerve schwannoma MONDO:0002546 NCIT:C41430 NCIT:C3269 schwannoma -MONDO:0004821 nasopharyngeal disorder MONDO:0020592 NCIT:C35723 NCIT:C26850 disorder of pharynx -MONDO:0004822 bronchiectasis MONDO:0005002 NCIT:C84475 NCIT:C3199 chronic obstructive pulmonary disease -MONDO:0004824 neonatal candidiasis MONDO:0002026 NCIT:C116810 NCIT:C26711 candidiasis MONDO:0004827 esophagus squamous cell papilloma MONDO:0001825 NCIT:C5344 NCIT:C3712 squamous papilloma MONDO:0004832 esophagus leiomyoma MONDO:0021459 NCIT:C3866 NCIT:C3598 benign neoplasm of esophagus -MONDO:0004834 ischemic fasciitis MONDO:0004830 NCIT:C6483 NCIT:C50559 fasciitis -MONDO:0004835 necrotizing fasciitis MONDO:0004830 NCIT:C84916 NCIT:C50559 fasciitis MONDO:0004836 intravascular fasciitis MONDO:0004187 NCIT:C4729 NCIT:C3827 nodular fasciitis MONDO:0004837 neurofibroma of the esophagus MONDO:0016755 NCIT:C5704 NCIT:C3272 neurofibroma -MONDO:0004844 oral mucosa leukoplakia MONDO:0043243 NCIT:C3187 NCIT:C3186 leukoplakia -MONDO:0004848 ulcerative stomatitis MONDO:0004842 NCIT:C35039 NCIT:C26887 stomatitis -MONDO:0004849 pulmonary emphysema MONDO:0005002 NCIT:C3348 NCIT:C3199 chronic obstructive pulmonary disease -MONDO:0004873 internal hemorrhoid MONDO:0004872 NCIT:C35319 NCIT:C26792 hemorrhoid -MONDO:0004875 xanthogranulomatous cholecystitis MONDO:0002155 NCIT:C35792 NCIT:C34465 cholecystitis -MONDO:0004881 myositis fibrosa MONDO:0021167 NCIT:C26985 NCIT:C27578 myositis disease -MONDO:0004893 hypertropia MONDO:0003432 NCIT:C34716 NCIT:C35040 strabismus -MONDO:0004896 esotropia MONDO:0003432 NCIT:C34596 NCIT:C35040 strabismus -MONDO:0004897 hypotropia MONDO:0003432 NCIT:C42086 NCIT:C35040 strabismus -MONDO:0004905 intestinal disaccharidase deficiency MONDO:0020598 NCIT:C34731 NCIT:C3214 malabsorption syndrome -MONDO:0004910 mitral valve prolapse MONDO:0003767 NCIT:C50655 NCIT:C78446 mitral valve disorder -MONDO:0004933 hypoplastic left heart syndrome MONDO:0002254 NCIT:C98894 NCIT:C28193 syndromic disease -MONDO:0004939 hallucinogen dependence MONDO:0005303 NCIT:C34657 NCIT:C3894 drug dependence MONDO:0004942 orbit lymphoma MONDO:0002889 NCIT:C6244 NCIT:C3562 orbital cancer MONDO:0004943 orbit sarcoma MONDO:0002889 NCIT:C6095 NCIT:C3562 orbital cancer MONDO:0004948 B-cell chronic lymphocytic leukemia MONDO:0001014 NCIT:C3163 NCIT:C3483 chronic leukemia @@ -2793,13 +2257,8 @@ MONDO:0004972 adenoma MONDO:0005626 NCIT:C2855 NCIT:C3709 epithelial neoplasm MONDO:0004973 adenosquamous lung carcinoma MONDO:0006074 NCIT:C9133 NCIT:C3727 adenosquamous carcinoma MONDO:0004974 adrenal gland pheochromocytoma MONDO:0021072 NCIT:C3326 NCIT:C4216 sympathetic paraganglioma MONDO:0004974 adrenal gland pheochromocytoma MONDO:0021237 NCIT:C3326 NCIT:C4856 adrenal medulla neoplasm -MONDO:0004975 Alzheimer disease MONDO:0001627 NCIT:C2866 NCIT:C4786 dementia -MONDO:0004980 atopic eczema MONDO:0002406 NCIT:C3001 NCIT:C2983 dermatitis -MONDO:0004981 atrial fibrillation MONDO:0007263 NCIT:C50466 NCIT:C2881 cardiac rhythm disease -MONDO:0004985 bipolar disorder MONDO:0005371 NCIT:C34423 NCIT:C92200 mood disorder MONDO:0004986 urinary bladder carcinoma MONDO:0001187 NCIT:C4912 NCIT:C9334 urinary bladder cancer MONDO:0004987 urinary bladder neoplasm MONDO:0006026 NCIT:C2901 NCIT:C2900 urinary bladder disorder -MONDO:0004987 urinary bladder neoplasm MONDO:0021066 NCIT:C2901 NCIT:C3431 urinary system neoplasm MONDO:0004988 breast adenocarcinoma MONDO:0004970 NCIT:C5214 NCIT:C2852 adenocarcinoma MONDO:0004988 breast adenocarcinoma MONDO:0004989 NCIT:C5214 NCIT:C4872 breast carcinoma MONDO:0004989 breast carcinoma MONDO:0004993 NCIT:C4872 NCIT:C2916 carcinoma @@ -2807,12 +2266,9 @@ MONDO:0004989 breast carcinoma MONDO:0007254 NCIT:C4872 NCIT:C9335 breast cancer MONDO:0004991 minimally invasive lung adenocarcinoma MONDO:0005061 NCIT:C2923 NCIT:C3512 lung adenocarcinoma MONDO:0004993 carcinoma MONDO:0004992 NCIT:C2916 NCIT:C9305 cancer MONDO:0004993 carcinoma MONDO:0005626 NCIT:C2916 NCIT:C3709 epithelial neoplasm -MONDO:0004996 childhood acute myeloid leukemia MONDO:0004355 NCIT:C9160 NCIT:C4989 childhood leukemia MONDO:0004996 childhood acute myeloid leukemia MONDO:0018874 NCIT:C9160 NCIT:C3171 acute myeloid leukemia MONDO:0004997 chondroblastoma MONDO:0000631 NCIT:C2945 NCIT:C4880 bone benign neoplasm MONDO:0004997 chondroblastoma MONDO:0024470 NCIT:C2945 NCIT:C8592 benign chondrogenic neoplasm -MONDO:0005001 chronic gastritis MONDO:0004966 NCIT:C26929 NCIT:C26780 gastritis -MONDO:0005003 chronic pancreatitis MONDO:0004982 NCIT:C84637 NCIT:C3306 pancreatitis MONDO:0005004 clear cell adenocarcinoma MONDO:0004970 NCIT:C3766 NCIT:C2852 adenocarcinoma MONDO:0005005 clear cell renal carcinoma MONDO:0005004 NCIT:C4033 NCIT:C3766 clear cell adenocarcinoma MONDO:0005005 clear cell renal carcinoma MONDO:0005549 NCIT:C4033 NCIT:C9385 renal cell adenocarcinoma @@ -2820,24 +2276,18 @@ MONDO:0005006 clear cell sarcoma of kidney MONDO:0002930 NCIT:C4264 NCIT:C4525 k MONDO:0005007 colon mucinous adenocarcinoma MONDO:0002271 NCIT:C7966 NCIT:C4349 colon adenocarcinoma MONDO:0005008 colorectal adenocarcinoma MONDO:0004970 NCIT:C5105 NCIT:C2852 adenocarcinoma MONDO:0005008 colorectal adenocarcinoma MONDO:0024331 NCIT:C5105 NCIT:C2955 colorectal carcinoma -MONDO:0005009 congestive heart failure MONDO:0005252 NCIT:C3080 NCIT:C50577 heart failure -MONDO:0005011 Crohn disease MONDO:0005265 NCIT:C2965 NCIT:C3138 inflammatory bowel disease MONDO:0005012 cutaneous melanoma MONDO:0002898 NCIT:C3510 NCIT:C2920 skin cancer MONDO:0005012 cutaneous melanoma MONDO:0005105 NCIT:C3510 NCIT:C3224 melanoma MONDO:0005012 cutaneous melanoma MONDO:0021583 NCIT:C3510 NCIT:C7161 melanocytic skin neoplasm MONDO:0005013 dedifferentiated chondrosarcoma MONDO:0021054 NCIT:C6476 NCIT:C9312 bone sarcoma -MONDO:0005015 diabetes mellitus MONDO:0002908 NCIT:C2985 NCIT:C53655 glucose metabolism disease -MONDO:0005016 diabetic kidney disease MONDO:0005300 NCIT:C84417 NCIT:C80078 chronic kidney disease MONDO:0005017 diffuse gastric adenocarcinoma MONDO:0005036 NCIT:C9159 NCIT:C4004 gastric adenocarcinoma MONDO:0005017 diffuse gastric adenocarcinoma MONDO:0021652 NCIT:C9159 NCIT:C4127 diffuse type adenocarcinoma -MONDO:0005020 intestinal disorder MONDO:0004335 NCIT:C26801 NCIT:C2990 digestive system disorder MONDO:0005023 ductal breast carcinoma in situ MONDO:0004007 NCIT:C2924 NCIT:C27942 breast intraductal proliferative lesion MONDO:0005023 ductal breast carcinoma in situ MONDO:0004658 NCIT:C2924 NCIT:C3641 breast carcinoma in situ MONDO:0005023 ductal breast carcinoma in situ MONDO:0005590 NCIT:C2924 NCIT:C4017 breast ductal adenocarcinoma MONDO:0005026 endometrioid adenocarcinoma MONDO:0004970 NCIT:C3769 NCIT:C2852 adenocarcinoma MONDO:0005028 esophageal adenocarcinoma MONDO:0004970 NCIT:C4025 NCIT:C2852 adenocarcinoma MONDO:0005028 esophageal adenocarcinoma MONDO:0019086 NCIT:C4025 NCIT:C3513 carcinoma of esophagus -MONDO:0005029 essential thrombocythemia MONDO:0020076 NCIT:C3407 NCIT:C4345 myeloproliferative neoplasm MONDO:0005031 fibromatosis MONDO:0006209 NCIT:C3042 NCIT:C7075 fibroblastic neoplasm MONDO:0005032 follicular thyroid adenoma MONDO:0004972 NCIT:C3502 NCIT:C2855 adenoma MONDO:0005032 follicular thyroid adenoma MONDO:0006107 NCIT:C3502 NCIT:C3628 benign thyroid gland neoplasm @@ -2851,7 +2301,6 @@ MONDO:0005048 pancreatic insulin-producing neuroendocrine tumor MONDO:0019954 NC MONDO:0005050 invasive ductal and lobular carcinoma MONDO:0006306 NCIT:C7688 NCIT:C5160 mixed lobular and ductal breast carcinoma MONDO:0005051 invasive lobular breast carcinoma MONDO:0000552 NCIT:C7950 NCIT:C3771 breast lobular carcinoma MONDO:0005051 invasive lobular breast carcinoma MONDO:0006256 NCIT:C7950 NCIT:C9245 invasive breast carcinoma -MONDO:0005052 irritable bowel syndrome MONDO:0002254 NCIT:C82343 NCIT:C28193 syndromic disease MONDO:0005056 keratinizing squamous cell carcinoma MONDO:0005096 NCIT:C4105 NCIT:C2929 squamous cell carcinoma MONDO:0005057 large cell neuroendocrine carcinoma MONDO:0002120 NCIT:C6875 NCIT:C3773 neuroendocrine carcinoma MONDO:0005057 large cell neuroendocrine carcinoma MONDO:0005232 NCIT:C6875 NCIT:C3780 large cell carcinoma @@ -2860,20 +2309,15 @@ MONDO:0005059 leukemia MONDO:0044881 NCIT:C3161 NCIT:C27134 hematopoietic and ly MONDO:0005061 lung adenocarcinoma MONDO:0005233 NCIT:C3512 NCIT:C2926 non-small cell lung carcinoma MONDO:0005062 lymphoma MONDO:0005157 NCIT:C3208 NCIT:C7065 lymphoid neoplasm MONDO:0005063 medullary breast carcinoma MONDO:0004953 NCIT:C9119 NCIT:C4194 invasive ductal breast carcinoma -MONDO:0005065 mesothelioma MONDO:0006856 NCIT:C3234 NCIT:C3786 mesothelial neoplasm MONDO:0005067 monophasic synovial sarcoma MONDO:0010434 NCIT:C6534 NCIT:C3400 synovial sarcoma -MONDO:0005068 myocardial infarction MONDO:0024643 NCIT:C27996 NCIT:C35544 myocardial disorder MONDO:0005072 neuroblastoma MONDO:0006316 NCIT:C3270 NCIT:C6963 neuroblastic tumor MONDO:0005074 papillary cystadenocarcinoma MONDO:0002512 NCIT:C3777 NCIT:C2853 papillary adenocarcinoma MONDO:0005074 papillary cystadenocarcinoma MONDO:0005596 NCIT:C3777 NCIT:C2971 cystadenocarcinoma MONDO:0005074 papillary cystadenocarcinoma MONDO:0006349 NCIT:C3777 NCIT:C4179 papillary cystic neoplasm MONDO:0005075 thyroid gland papillary carcinoma MONDO:0002512 NCIT:C4035 NCIT:C2853 papillary adenocarcinoma MONDO:0005075 thyroid gland papillary carcinoma MONDO:0015447 NCIT:C4035 NCIT:C7153 differentiated thyroid carcinoma -MONDO:0005076 periodontitis MONDO:0002635 NCIT:C34918 NCIT:C63743 periodontal disorder MONDO:0005078 phyllodes tumor MONDO:0021045 NCIT:C2977 NCIT:C3743 fibroepithelial neoplasm -MONDO:0005081 preeclampsia MONDO:0045048 NCIT:C85021 NCIT:C34943 toxemia of pregnancy MONDO:0005082 prostate adenocarcinoma MONDO:0004970 NCIT:C2919 NCIT:C2852 adenocarcinoma -MONDO:0005083 psoriasis MONDO:0002406 NCIT:C3346 NCIT:C2983 dermatitis MONDO:0005085 pterygium MONDO:0006105 NCIT:C133744 NCIT:C3622 benign conjunctival neoplasm MONDO:0005089 sarcoma MONDO:0004992 NCIT:C9118 NCIT:C9305 cancer MONDO:0005092 signet ring cell carcinoma MONDO:0004970 NCIT:C3774 NCIT:C2852 adenocarcinoma @@ -2882,32 +2326,18 @@ MONDO:0005096 squamous cell carcinoma MONDO:0002532 NCIT:C2929 NCIT:C3792 squamo MONDO:0005096 squamous cell carcinoma MONDO:0004993 NCIT:C2929 NCIT:C2916 carcinoma MONDO:0005097 squamous cell lung carcinoma MONDO:0005096 NCIT:C3493 NCIT:C2929 squamous cell carcinoma MONDO:0005097 squamous cell lung carcinoma MONDO:0005138 NCIT:C3493 NCIT:C4878 lung carcinoma -MONDO:0005098 stroke disorder MONDO:0011057 NCIT:C3390 NCIT:C2938 cerebrovascular disorder -MONDO:0005100 systemic sclerosis MONDO:0019340 NCIT:C72070 NCIT:C26746 scleroderma MONDO:0005102 undifferentiated (embryonal) sarcoma MONDO:0002397 NCIT:C27096 NCIT:C4437 liver sarcoma MONDO:0005105 melanoma MONDO:0021143 NCIT:C3224 NCIT:C7058 melanocytic neoplasm MONDO:0005106 lipoma MONDO:0044983 NCIT:C3192 NCIT:C4502 benign lipomatous neoplasm -MONDO:0005108 viral infectious disease MONDO:0005550 NCIT:C3439 NCIT:C26726 infectious disease -MONDO:0005110 idiopathic cardiomyopathy MONDO:0004994 NCIT:C53654 NCIT:C34830 cardiomyopathy MONDO:0005112 malignant pleural mesothelioma MONDO:0003308 NCIT:C7376 NCIT:C9351 pleural mesothelioma MONDO:0005112 malignant pleural mesothelioma MONDO:0006292 NCIT:C7376 NCIT:C4456 malignant mesothelioma MONDO:0005112 malignant pleural mesothelioma MONDO:0006294 NCIT:C7376 NCIT:C3547 pleural cancer -MONDO:0005113 bacterial infectious disease MONDO:0005550 NCIT:C2890 NCIT:C26726 infectious disease -MONDO:0005116 Whipple disease MONDO:0005113 NCIT:C85228 NCIT:C2890 bacterial infectious disease -MONDO:0005124 leprosy MONDO:0020590 NCIT:C84824 NCIT:C26831 mycobacterial infectious disease -MONDO:0005129 cataract MONDO:0001176 NCIT:C26713 NCIT:C26812 lens disorder -MONDO:0005130 celiac disease MONDO:0020598 NCIT:C26714 NCIT:C3214 malabsorption syndrome MONDO:0005131 cervical carcinoma MONDO:0002974 NCIT:C9039 NCIT:C9311 cervical cancer -MONDO:0005135 parasitic infectious disease MONDO:0005550 NCIT:C27864 NCIT:C26726 infectious disease MONDO:0005138 lung carcinoma MONDO:0004993 NCIT:C4878 NCIT:C2916 carcinoma MONDO:0005138 lung carcinoma MONDO:0008903 NCIT:C4878 NCIT:C7377 lung cancer MONDO:0005140 ovarian carcinoma MONDO:0018364 NCIT:C4908 NCIT:C40026 malignant epithelial tumor of ovary -MONDO:0005146 post-traumatic stress disorder MONDO:0005379 NCIT:C3389 NCIT:C34848 neurotic disorder -MONDO:0005147 type 1 diabetes mellitus MONDO:0005015 NCIT:C2986 NCIT:C2985 diabetes mellitus -MONDO:0005148 type 2 diabetes mellitus MONDO:0005015 NCIT:C26747 NCIT:C2985 diabetes mellitus MONDO:0005153 cervical adenocarcinoma MONDO:0004970 NCIT:C4029 NCIT:C2852 adenocarcinoma MONDO:0005153 cervical adenocarcinoma MONDO:0005131 NCIT:C4029 NCIT:C9039 cervical carcinoma -MONDO:0005154 liver disorder MONDO:0002515 NCIT:C3196 NCIT:C3959 hepatobiliary disorder MONDO:0005157 lymphoid neoplasm MONDO:0044881 NCIT:C7065 NCIT:C27134 hematopoietic and lymphoid cell neoplasm MONDO:0005159 prostate carcinoma MONDO:0008315 NCIT:C4863 NCIT:C7378 prostate cancer MONDO:0005164 fibrosarcoma MONDO:0006209 NCIT:C3043 NCIT:C7075 fibroblastic neoplasm @@ -2915,11 +2345,8 @@ MONDO:0005166 osteoma MONDO:0000631 NCIT:C3296 NCIT:C4880 bone benign neoplasm MONDO:0005169 neoplasm of mature T-cells or NK-cells MONDO:0024615 NCIT:C27909 NCIT:C27908 T-cell and NK-cell neoplasm MONDO:0005170 myeloid neoplasm MONDO:0044881 NCIT:C9290 NCIT:C27134 hematopoietic and lymphoid cell neoplasm MONDO:0005177 serous cystadenoma MONDO:0002369 NCIT:C3783 NCIT:C2972 cystadenoma -MONDO:0005178 osteoarthritis MONDO:0005578 NCIT:C3293 NCIT:C2883 arthritic joint disease MONDO:0005183 ovarian cystadenoma MONDO:0002369 NCIT:C4060 NCIT:C2972 cystadenoma MONDO:0005184 pancreatic ductal adenocarcinoma MONDO:0006047 NCIT:C9120 NCIT:C8294 pancreatic adenocarcinoma -MONDO:0005185 chronic childhood arthritis MONDO:0008383 NCIT:C27179 NCIT:C2884 rheumatoid arthritis -MONDO:0005186 cocaine dependence MONDO:0005303 NCIT:C34492 NCIT:C3894 drug dependence MONDO:0005188 iatrogenic Kaposi's sarcoma MONDO:0005055 NCIT:C35873 NCIT:C9087 Kaposi's sarcoma MONDO:0005191 metastatic melanoma MONDO:0005105 NCIT:C8925 NCIT:C3224 melanoma MONDO:0005192 exocrine pancreatic carcinoma MONDO:0002116 NCIT:C3850 NCIT:C7430 malignant exocrine pancreas neoplasm @@ -2942,104 +2369,37 @@ MONDO:0005221 renal pelvis urothelial carcinoma MONDO:0005519 NCIT:C7355 NCIT:C6 MONDO:0005221 renal pelvis urothelial carcinoma MONDO:0020654 NCIT:C7355 NCIT:C7716 renal pelvis/ureter urothelial carcinoma MONDO:0005223 acute myeloid leukemia with minimal differentiation MONDO:0015667 NCIT:C8460 NCIT:C27753 acute myeloid leukemia by FAB classification MONDO:0005224 acute myeloblastic leukemia without maturation MONDO:0015667 NCIT:C3249 NCIT:C27753 acute myeloid leukemia by FAB classification -MONDO:0005227 abscess MONDO:0005550 NCIT:C26686 NCIT:C26726 infectious disease MONDO:0005232 large cell carcinoma MONDO:0004993 NCIT:C3780 NCIT:C2916 carcinoma MONDO:0005233 non-small cell lung carcinoma MONDO:0005138 NCIT:C2926 NCIT:C4878 lung carcinoma MONDO:0005235 smoldering plasma cell myeloma MONDO:0009693 NCIT:C7149 NCIT:C3242 plasma cell myeloma -MONDO:0005240 kidney disorder MONDO:0002118 NCIT:C3149 NCIT:C3430 urinary system disorder -MONDO:0005242 empyema MONDO:0005113 NCIT:C34572 NCIT:C2890 bacterial infectious disease -MONDO:0005244 peripheral neuropathy MONDO:0003620 NCIT:C119734 NCIT:C27580 peripheral nervous system disorder -MONDO:0005258 autism spectrum disorder MONDO:0000594 NCIT:C88412 NCIT:C97179 pervasive developmental disorder -MONDO:0005259 Asperger syndrome MONDO:0005258 NCIT:C97159 NCIT:C88412 autism spectrum disorder -MONDO:0005260 autism MONDO:0005258 NCIT:C97161 NCIT:C88412 autism spectrum disorder -MONDO:0005264 transient ischemic attack MONDO:0005299 NCIT:C50781 NCIT:C78394 brain ischemia -MONDO:0005266 diabetic retinopathy MONDO:0002311 NCIT:C34538 NCIT:C35170 retinal vascular disorder -MONDO:0005267 heart disorder MONDO:0004995 NCIT:C3079 NCIT:C2931 cardiovascular disorder -MONDO:0005271 allergic disease MONDO:0000605 NCIT:C114476 NCIT:C3114 hypersensitivity reaction disease -MONDO:0005272 myelodysplastic syndrome with single lineage dysplasia MONDO:0018881 NCIT:C82591 NCIT:C3247 myelodysplastic syndrome -MONDO:0005277 migraine disorder MONDO:0043218 NCIT:C89715 NCIT:C117007 neurovascular disorder MONDO:0005278 serous adenocarcinoma MONDO:0004970 NCIT:C40101 NCIT:C2852 adenocarcinoma -MONDO:0005282 cutaneous lupus erythematosus MONDO:0004670 NCIT:C26819 NCIT:C27153 lupus erythematosus -MONDO:0005283 retinal disorder MONDO:0005328 NCIT:C26875 NCIT:C26767 eye disorder MONDO:0005286 palatal neoplasm MONDO:0021245 NCIT:C4402 NCIT:C7606 oral cavity neoplasm MONDO:0005289 paranasal sinus neoplasm MONDO:0001735 NCIT:C7488 NCIT:C26843 paranasal sinus disorder -MONDO:0005298 osteoporosis MONDO:0800486 NCIT:C3298 NCIT:C97045 metabolic bone disorder -MONDO:0005299 brain ischemia MONDO:0011057 NCIT:C78394 NCIT:C2938 cerebrovascular disorder -MONDO:0005302 attention deficit hyperactivity disorder, inattentive type MONDO:0007743 NCIT:C35092 NCIT:C97160 attention deficit-hyperactivity disorder -MONDO:0005303 drug dependence MONDO:0004938 NCIT:C3894 NCIT:C35458 substance dependence -MONDO:0005306 ankylosing spondylitis MONDO:0005095 NCIT:C84564 NCIT:C116778 spondyloarthropathy -MONDO:0005311 atherosclerosis MONDO:0002277 NCIT:C35768 NCIT:C34398 arteriosclerosis disorder -MONDO:0005311 atherosclerosis MONDO:0002277 NCIT:C35771 NCIT:C34403 arteriosclerosis disorder -MONDO:0005313 necrotizing enterocolitis MONDO:0009172 NCIT:C84915 NCIT:C79573 enterocolitis -MONDO:0005314 relapsing-remitting multiple sclerosis MONDO:0005301 NCIT:C165675 NCIT:C3243 multiple sclerosis -MONDO:0005316 bacterial vaginosis MONDO:0023557 NCIT:C116973 NCIT:C84353 infective vaginitis -MONDO:0005324 seasonal allergic rhinitis MONDO:0011786 NCIT:C92188 NCIT:C79532 allergic rhinitis MONDO:0005335 colorectal neoplasm MONDO:0021118 NCIT:C2956 NCIT:C3141 intestinal neoplasm -MONDO:0005338 open-angle glaucoma MONDO:0005041 NCIT:C34641 NCIT:C26782 glaucoma MONDO:0005341 skin basal cell carcinoma MONDO:0020804 NCIT:C2921 NCIT:C156767 basal cell carcinoma -MONDO:0005342 IgA glomerulonephritis MONDO:0002462 NCIT:C34643 NCIT:C26784 glomerulonephritis -MONDO:0005348 keloid MONDO:0006603 NCIT:C3145 NCIT:C27549 reactive cutaneous fibrous lesion -MONDO:0005351 anorexia nervosa MONDO:0005451 NCIT:C34387 NCIT:C89332 eating disorder -MONDO:0005357 Creutzfeldt Jacob disease MONDO:0005429 NCIT:C26802 NCIT:C128346 prion disease -MONDO:0005358 Dengue hemorrhagic fever MONDO:0005502 NCIT:C34683 NCIT:C34528 dengue disease -MONDO:0005361 eosinophilic esophagitis MONDO:0001409 NCIT:C27105 NCIT:C9224 esophagitis -MONDO:0005364 Graves disease MONDO:0005397 NCIT:C3071 NCIT:C26785 goiter -MONDO:0005369 carcinoid tumor MONDO:0019496 NCIT:C2915 NCIT:C3809 neuroendocrine neoplasm MONDO:0005374 bone marrow neoplasm MONDO:0002334 NCIT:C35370 NCIT:C35813 hematopoietic and lymphoid system neoplasm MONDO:0005374 bone marrow neoplasm MONDO:0003225 NCIT:C35370 NCIT:C34433 bone marrow disorder MONDO:0005375 nasopharyngeal neoplasm MONDO:0004821 NCIT:C3257 NCIT:C35723 nasopharyngeal disorder MONDO:0005375 nasopharyngeal neoplasm MONDO:0021246 NCIT:C3257 NCIT:C3325 pharynx neoplasm -MONDO:0005376 membranous glomerulonephritis MONDO:0002462 NCIT:C34645 NCIT:C26784 glomerulonephritis -MONDO:0005377 nephrotic syndrome MONDO:0002254 NCIT:C34845 NCIT:C28193 syndromic disease -MONDO:0005379 neurotic disorder MONDO:0005618 NCIT:C34848 NCIT:C2878 anxiety disorder -MONDO:0005382 bone Paget disease MONDO:0800486 NCIT:C3292 NCIT:C97045 metabolic bone disorder -MONDO:0005383 panic disorder MONDO:0005618 NCIT:C34890 NCIT:C2878 anxiety disorder -MONDO:0005384 focal epilepsy MONDO:0005027 NCIT:C122812 NCIT:C3020 epilepsy -MONDO:0005385 vascular disorder MONDO:0004995 NCIT:C35117 NCIT:C2931 cardiovascular disorder -MONDO:0005386 peripheral arterial disease MONDO:0005294 NCIT:C84496 NCIT:C35136 peripheral vascular disease -MONDO:0005393 gout MONDO:0005066 NCIT:C34650 NCIT:C3235 metabolic disease MONDO:0005401 colonic neoplasm MONDO:0005335 NCIT:C2953 NCIT:C2956 colorectal neoplasm MONDO:0005402 lymphoid leukemia MONDO:0005059 NCIT:C7539 NCIT:C3161 leukemia MONDO:0005402 lymphoid leukemia MONDO:0005157 NCIT:C7539 NCIT:C7065 lymphoid neoplasm -MONDO:0005404 myalgic encephalomeyelitis/chronic fatigue syndrome MONDO:0021094 NCIT:C3037 NCIT:C3131 immunodeficiency disease -MONDO:0005406 gestational diabetes MONDO:0005015 NCIT:C34942 NCIT:C2985 diabetes mellitus MONDO:0005411 gallbladder cancer MONDO:0021253 NCIT:C7481 NCIT:C3048 gallbladder neoplasm -MONDO:0005412 duodenal ulcer MONDO:0004247 NCIT:C26755 NCIT:C3318 peptic ulcer disease -MONDO:0005429 prion disease MONDO:0024619 NCIT:C128346 NCIT:C27582 central nervous system infectious disorder MONDO:0005438 metastatic malignant neoplasm in the lymph nodes MONDO:0001082 NCIT:C4904 NCIT:C35812 lymph node cancer -MONDO:0005439 familial hypercholesterolemia MONDO:0037748 NCIT:C34704 NCIT:C34709 hyperlipoproteinemia -MONDO:0005445 visceral leishmaniasis MONDO:0011989 NCIT:C34771 NCIT:C34767 leishmaniasis -MONDO:0005446 cutaneous leishmaniasis MONDO:0011989 NCIT:C34768 NCIT:C34767 leishmaniasis MONDO:0005447 testicular cancer MONDO:0005836 NCIT:C7251 NCIT:C8561 male reproductive organ cancer MONDO:0005447 testicular cancer MONDO:0021348 NCIT:C7251 NCIT:C3404 neoplasm of testis -MONDO:0005451 eating disorder MONDO:0002025 NCIT:C89332 NCIT:C2893 psychiatric disorder -MONDO:0005451 eating disorder MONDO:0005137 NCIT:C89332 NCIT:C26836 nutritional disorder -MONDO:0005452 bulimia nervosa MONDO:0005451 NCIT:C34440 NCIT:C89332 eating disorder -MONDO:0005453 congenital heart disease MONDO:0024239 NCIT:C95834 NCIT:C35729 congenital anomaly of cardiovascular system MONDO:0005454 lung neuroendocrine neoplasm MONDO:0019496 NCIT:C5670 NCIT:C3809 neuroendocrine neoplasm MONDO:0005454 lung neuroendocrine neoplasm MONDO:0021117 NCIT:C5670 NCIT:C3200 lung neoplasm -MONDO:0005460 swine influenza MONDO:0005812 NCIT:C80444 NCIT:C53482 influenza MONDO:0005461 endometrium adenocarcinoma MONDO:0002447 NCIT:C7359 NCIT:C7558 endometrial carcinoma MONDO:0005461 endometrium adenocarcinoma MONDO:0004970 NCIT:C7359 NCIT:C2852 adenocarcinoma MONDO:0005462 primitive neuroectodermal tumor MONDO:0005564 NCIT:C3716 NCIT:C3264 embryonal neoplasm MONDO:0005462 primitive neuroectodermal tumor MONDO:0021193 NCIT:C3716 NCIT:C3787 neuroepithelial neoplasm -MONDO:0005464 rhegmatogenous retinal detachment MONDO:0008375 NCIT:C118755 NCIT:C26874 retinal detachment -MONDO:0005473 temporomandibular joint disorder MONDO:0006816 NCIT:C63709 NCIT:C35760 arthropathy -MONDO:0005475 migraine with aura MONDO:0005277 NCIT:C117005 NCIT:C89715 migraine disorder -MONDO:0005477 ventricular tachycardia MONDO:0007263 NCIT:C50802 NCIT:C2881 cardiac rhythm disease -MONDO:0005480 contact dermatitis MONDO:0002406 NCIT:C26743 NCIT:C2983 dermatitis -MONDO:0005483 chemotherapy-induced alopecia MONDO:0004907 NCIT:C164162 NCIT:C50575 alopecia MONDO:0005484 colorectal adenoma MONDO:0006180 NCIT:C5673 NCIT:C36207 digestive system adenoma -MONDO:0005492 urticaria MONDO:0002406 NCIT:C3432 NCIT:C2983 dermatitis MONDO:0005505 dysembryoplastic neuroepithelial tumor MONDO:0016729 NCIT:C9505 NCIT:C4747 mixed neuronal-glial tumor MONDO:0005506 eccrine sweat gland cancer MONDO:0002090 NCIT:C5559 NCIT:C6796 eccrine sweat gland neoplasm MONDO:0005506 eccrine sweat gland cancer MONDO:0002206 NCIT:C5559 NCIT:C4810 sweat gland cancer MONDO:0005507 gingival cancer MONDO:0005515 NCIT:C9317 NCIT:C9314 oral cavity cancer MONDO:0005507 gingival cancer MONDO:0021086 NCIT:C9317 NCIT:C3057 gingival neoplasm -MONDO:0005508 hereditary multiple osteochondromas MONDO:0002181 NCIT:C5183 NCIT:C3029 exostosis -MONDO:0005508 hereditary multiple osteochondromas MONDO:0015356 NCIT:C5183 NCIT:C3266 hereditary neoplastic syndrome -MONDO:0005508 hereditary multiple osteochondromas MONDO:0023603 NCIT:C5183 NCIT:C97075 hereditary disorder of connective tissue -MONDO:0005510 hydronephrosis MONDO:0003330 NCIT:C26796 NCIT:C3675 urinary tract obstruction MONDO:0005515 oral cavity cancer MONDO:0021245 NCIT:C9314 NCIT:C7606 oral cavity neoplasm MONDO:0005517 pharynx cancer MONDO:0021246 NCIT:C7545 NCIT:C3325 pharynx neoplasm MONDO:0005517 pharynx cancer MONDO:0021310 NCIT:C7545 NCIT:C4940 malignant tumor of neck @@ -3050,25 +2410,12 @@ MONDO:0005522 small intestine carcinoma MONDO:0006181 NCIT:C7724 NCIT:C96963 dig MONDO:0005524 sweat gland carcinoma MONDO:0002206 NCIT:C6938 NCIT:C4810 sweat gland cancer MONDO:0005524 sweat gland carcinoma MONDO:0004970 NCIT:C6938 NCIT:C2852 adenocarcinoma MONDO:0005524 sweat gland carcinoma MONDO:0006973 NCIT:C6938 NCIT:C3775 skin appendage carcinoma -MONDO:0005532 Crohn's colitis MONDO:0005011 NCIT:C35211 NCIT:C2965 Crohn disease -MONDO:0005542 acute coronary syndrome MONDO:0002254 NCIT:C53652 NCIT:C28193 syndromic disease -MONDO:0005545 staphylococcus aureus infection MONDO:0024313 NCIT:C122576 NCIT:C35038 staphylococcal infection -MONDO:0005546 fibromyalgia MONDO:0002254 NCIT:C87497 NCIT:C28193 syndromic disease -MONDO:0005556 lupus nephritis MONDO:0002462 NCIT:C34789 NCIT:C26784 glomerulonephritis -MONDO:0005558 ovarian disorder MONDO:0002263 NCIT:C26841 NCIT:C27020 female reproductive system disorder -MONDO:0005560 brain disorder MONDO:0002602 NCIT:C96413 NCIT:C2934 central nervous system disorder -MONDO:0005561 aortic disorder MONDO:0000473 NCIT:C101253 NCIT:C35317 arterial disorder MONDO:0005565 blastoma MONDO:0005564 NCIT:C8997 NCIT:C3264 embryonal neoplasm -MONDO:0005566 neonatal abstinence syndrome MONDO:0005567 NCIT:C87101 NCIT:C35046 substance withdrawal syndrome -MONDO:0005567 substance withdrawal syndrome MONDO:0002254 NCIT:C35046 NCIT:C28193 syndromic disease MONDO:0005575 colorectal cancer MONDO:0005335 NCIT:C4978 NCIT:C2956 colorectal neoplasm MONDO:0005575 colorectal cancer MONDO:0005814 NCIT:C4978 NCIT:C4572 intestinal cancer -MONDO:0005578 arthritic joint disease MONDO:0006816 NCIT:C2883 NCIT:C35760 arthropathy MONDO:0005580 esophageal squamous cell carcinoma MONDO:0005096 NCIT:C4024 NCIT:C2929 squamous cell carcinoma MONDO:0005580 esophageal squamous cell carcinoma MONDO:0019086 NCIT:C4024 NCIT:C3513 carcinoma of esophagus -MONDO:0005582 binge eating disorder MONDO:0005451 NCIT:C97162 NCIT:C89332 eating disorder MONDO:0005590 breast ductal adenocarcinoma MONDO:0004988 NCIT:C4017 NCIT:C5214 breast adenocarcinoma -MONDO:0005593 chronic periodontitis MONDO:0005076 NCIT:C35326 NCIT:C34918 periodontitis MONDO:0005595 laryngeal squamous cell carcinoma MONDO:0002358 NCIT:C4044 NCIT:C4855 laryngeal carcinoma MONDO:0005595 laryngeal squamous cell carcinoma MONDO:0010150 NCIT:C4044 NCIT:C34447 head and neck squamous cell carcinoma MONDO:0005596 cystadenocarcinoma MONDO:0004970 NCIT:C2971 NCIT:C2852 adenocarcinoma @@ -3080,9 +2427,6 @@ MONDO:0005602 ovarian teratoma MONDO:0006233 NCIT:C8110 NCIT:C98291 gonadal tera MONDO:0005602 ovarian teratoma MONDO:0011366 NCIT:C8110 NCIT:C3873 ovarian germ cell tumor MONDO:0005605 transitional cell papilloma MONDO:0002363 NCIT:C4115 NCIT:C7440 papilloma MONDO:0005606 tubular adenocarcinoma MONDO:0004970 NCIT:C65192 NCIT:C2852 adenocarcinoma -MONDO:0005607 chronic bronchitis MONDO:0003781 NCIT:C26722 NCIT:C2911 bronchitis -MONDO:0005607 chronic bronchitis MONDO:0005002 NCIT:C26722 NCIT:C3199 chronic obstructive pulmonary disease -MONDO:0005609 herpes zoster MONDO:0005608 NCIT:C71079 NCIT:C96407 varicella zoster infection MONDO:0005611 bladder transitional cell carcinoma MONDO:0004986 NCIT:C39851 NCIT:C4912 urinary bladder carcinoma MONDO:0005611 bladder transitional cell carcinoma MONDO:0040679 NCIT:C39851 NCIT:C4030 urothelial carcinoma MONDO:0005613 mesonephric adenocarcinoma MONDO:0004970 NCIT:C4072 NCIT:C2852 adenocarcinoma @@ -3090,124 +2434,48 @@ MONDO:0005614 pancreatic adenosquamous carcinoma MONDO:0006074 NCIT:C5721 NCIT:C MONDO:0005615 plasmacytoma MONDO:0004959 NCIT:C9349 NCIT:C4665 plasma cell neoplasm MONDO:0005616 pulmonary mucoepidermoid carcinoma MONDO:0003036 NCIT:C45544 NCIT:C3772 mucoepidermoid carcinoma MONDO:0005617 undifferentiated carcinoma MONDO:0004993 NCIT:C3692 NCIT:C2916 carcinoma -MONDO:0005620 cerebral amyloid angiopathy MONDO:0011057 NCIT:C84625 NCIT:C2938 cerebrovascular disorder -MONDO:0005625 cerebral malaria MONDO:0005136 NCIT:C128373 NCIT:C34797 malaria MONDO:0005627 head and neck cancer MONDO:0004992 NCIT:C4013 NCIT:C9305 cancer MONDO:0005627 head and neck cancer MONDO:0005586 NCIT:C4013 NCIT:C3077 head and neck neoplasm MONDO:0005628 male breast carcinoma MONDO:0004989 NCIT:C3862 NCIT:C4872 breast carcinoma -MONDO:0005629 Acanthamoeba keratitis MONDO:0002428 NCIT:C50450 NCIT:C34953 protozoa infectious disease -MONDO:0005629 Acanthamoeba keratitis MONDO:0023865 NCIT:C50450 NCIT:C83813 corneal infection -MONDO:0005632 acute chest syndrome MONDO:0002254 NCIT:C138179 NCIT:C28193 syndromic disease -MONDO:0005634 acute hemorrhagic conjunctivitis MONDO:0001214 NCIT:C34505 NCIT:C35195 acute conjunctivitis MONDO:0005635 adenomyoma MONDO:0000624 NCIT:C3726 NCIT:C4934 benign female reproductive system neoplasm MONDO:0005636 adenosarcoma MONDO:0001416 NCIT:C9474 NCIT:C4913 female reproductive organ cancer MONDO:0005636 adenosarcoma MONDO:0005853 NCIT:C9474 NCIT:C3729 malignant mixed neoplasm -MONDO:0005647 anogenital human papillomavirus infection MONDO:0005161 NCIT:C4820 NCIT:C27851 human papilloma virus infection -MONDO:0005648 aortic valve insufficiency MONDO:0003803 NCIT:C51223 NCIT:C78650 aortic valve disorder -MONDO:0005663 Barre-Lieou syndrome MONDO:0002254 NCIT:C34411 NCIT:C28193 syndromic disease MONDO:0005665 Bell's palsy MONDO:0002098 NCIT:C26769 NCIT:C27594 facial nerve disorder MONDO:0005665 Bell's palsy MONDO:0002782 NCIT:C26769 NCIT:C26941 cranial nerve palsy -MONDO:0005668 bird fancier's lung MONDO:0017853 NCIT:C34425 NCIT:C34369 hypersensitivity pneumonitis -MONDO:0005670 blackwater fever MONDO:0005136 NCIT:C34426 NCIT:C34797 malaria -MONDO:0005673 blind loop syndrome MONDO:0020598 NCIT:C34431 NCIT:C3214 malabsorption syndrome -MONDO:0005682 bronchopneumonia MONDO:0005249 NCIT:C26710 NCIT:C3333 pneumonia -MONDO:0005689 cannabis dependence MONDO:0005303 NCIT:C34445 NCIT:C3894 drug dependence -MONDO:0005692 cat-scratch disease MONDO:0005664 NCIT:C84620 NCIT:C84586 bartonellosis -MONDO:0005693 cauda equina syndrome MONDO:0002254 NCIT:C35436 NCIT:C28193 syndromic disease MONDO:0005694 cecal neoplasm MONDO:0005401 NCIT:C4433 NCIT:C2953 colonic neoplasm -MONDO:0005699 cervicofacial actinomycosis MONDO:0005631 NCIT:C34351 NCIT:C34350 actinomycosis -MONDO:0005700 chickenpox MONDO:0005608 NCIT:C97132 NCIT:C96407 varicella zoster infection -MONDO:0005707 coccidiosis MONDO:0002428 NCIT:C34493 NCIT:C34953 protozoa infectious disease -MONDO:0005709 common cold MONDO:0001040 NCIT:C34500 NCIT:C34837 nasopharyngitis MONDO:0005710 composite lymphoma MONDO:0005062 NCIT:C38661 NCIT:C3208 lymphoma -MONDO:0005714 congenital syphilis MONDO:0005976 NCIT:C84649 NCIT:C35055 syphilis -MONDO:0005715 congenital toxoplasmosis MONDO:0005989 NCIT:C50503 NCIT:C3418 toxoplasmosis -MONDO:0005722 croup MONDO:0004777 NCIT:C26735 NCIT:C26688 acute laryngitis -MONDO:0005723 Cryptococcal meningitis MONDO:0005724 NCIT:C174113 NCIT:C2967 cryptococcosis -MONDO:0005737 Ebola hemorrhagic fever MONDO:0018087 NCIT:C36171 NCIT:C36170 viral hemorrhagic fever -MONDO:0005742 emphysematous cholecystitis MONDO:0002155 NCIT:C35592 NCIT:C34465 cholecystitis -MONDO:0005756 ethmoid sinusitis MONDO:0005961 NCIT:C34597 NCIT:C35024 sinusitis -MONDO:0005761 filarial elephantiasis MONDO:0016075 NCIT:C128360 NCIT:C34611 filariasis -MONDO:0005769 geniculate herpes zoster MONDO:0021666 NCIT:C84763 NCIT:C27193 ear infection -MONDO:0005790 hepatitis A virus infection MONDO:0006011 NCIT:C3096 NCIT:C35124 viral hepatitis -MONDO:0005798 HIV-associated nephropathy MONDO:0024571 NCIT:C26918 NCIT:C4991 AIDS-related disorder MONDO:0005806 hypopharynx cancer MONDO:0005517 NCIT:C7190 NCIT:C7545 pharynx cancer MONDO:0005806 hypopharynx cancer MONDO:0021358 NCIT:C7190 NCIT:C3127 neoplasm of hypopharynx -MONDO:0005807 idiopathic CD4-positive T-lymphocytopenia MONDO:0003780 NCIT:C84780 NCIT:C27145 T-cell immunodeficiency -MONDO:0005808 inclusion conjunctivitis MONDO:0006668 NCIT:C116817 NCIT:C53656 bacterial conjunctivitis -MONDO:0005810 infectious mononucleosis MONDO:0005111 NCIT:C34726 NCIT:C38759 Epstein-Barr virus infection MONDO:0005814 intestinal cancer MONDO:0002516 NCIT:C4572 NCIT:C4890 digestive system cancer MONDO:0005814 intestinal cancer MONDO:0021118 NCIT:C4572 NCIT:C3141 intestinal neoplasm MONDO:0005815 pancreatic neuroendocrine neoplasm MONDO:0001933 NCIT:C27031 NCIT:C27067 endocrine pancreas disorder MONDO:0005815 pancreatic neuroendocrine neoplasm MONDO:0021040 NCIT:C27031 NCIT:C3305 pancreatic neoplasm MONDO:0005815 pancreatic neuroendocrine neoplasm MONDO:0024503 NCIT:C27031 NCIT:C27721 digestive system neuroendocrine neoplasm -MONDO:0005817 Kluver-Bucy syndrome MONDO:0002254 NCIT:C84802 NCIT:C28193 syndromic disease -MONDO:0005819 laryngeal tuberculosis MONDO:0002647 NCIT:C26895 NCIT:C26811 laryngitis -MONDO:0005822 latent syphilis MONDO:0005976 NCIT:C35056 NCIT:C35055 syphilis -MONDO:0005824 Legionnaires' disease MONDO:0004652 NCIT:C128339 NCIT:C26704 bacterial pneumonia -MONDO:0005835 Lynch syndrome MONDO:0018630 NCIT:C8494 NCIT:C120083 hereditary nonpolyposis colon cancer MONDO:0005836 male reproductive organ cancer MONDO:0002149 NCIT:C8561 NCIT:C36076 reproductive system cancer MONDO:0005836 male reproductive organ cancer MONDO:0024582 NCIT:C8561 NCIT:C3054 male reproductive system neoplasm -MONDO:0005842 maxillary sinusitis MONDO:0005961 NCIT:C34809 NCIT:C35024 sinusitis MONDO:0005843 mediastinal cancer MONDO:0003274 NCIT:C3549 NCIT:C3576 thoracic cancer MONDO:0005843 mediastinal cancer MONDO:0021386 NCIT:C3549 NCIT:C3221 neoplasm of mediastinum -MONDO:0005851 Miller Fisher syndrome MONDO:0002254 NCIT:C116958 NCIT:C28193 syndromic disease MONDO:0005853 malignant mixed neoplasm MONDO:0004992 NCIT:C3729 NCIT:C9305 cancer MONDO:0005853 malignant mixed neoplasm MONDO:0021043 NCIT:C3729 NCIT:C6930 mixed neoplasm -MONDO:0005854 mixed connective tissue disease MONDO:0005554 NCIT:C84892 NCIT:C27204 rheumatic disorder MONDO:0005858 mucinous cystadenocarcinoma MONDO:0004957 NCIT:C3776 NCIT:C26712 mucinous adenocarcinoma MONDO:0005858 mucinous cystadenocarcinoma MONDO:0005596 NCIT:C3776 NCIT:C2971 cystadenocarcinoma -MONDO:0005866 mycobacterium avium complex disease MONDO:0020590 NCIT:C36197 NCIT:C26831 mycobacterial infectious disease -MONDO:0005867 Mycoplasma pneumoniae pneumonia MONDO:0004652 NCIT:C122526 NCIT:C26704 bacterial pneumonia MONDO:0005872 nervous system cancer MONDO:0004992 NCIT:C4788 NCIT:C9305 cancer MONDO:0005872 nervous system cancer MONDO:0021248 NCIT:C4788 NCIT:C3268 nervous system neoplasm -MONDO:0005875 Newcastle disease MONDO:0005108 NCIT:C34849 NCIT:C3439 viral infectious disease -MONDO:0005878 ocular onchocerciasis MONDO:0017137 NCIT:C34862 NCIT:C34861 onchocerciasis -MONDO:0005886 oral candidiasis MONDO:0002026 NCIT:C28137 NCIT:C26711 candidiasis MONDO:0005893 pancreatic endocrine carcinoma MONDO:0005815 NCIT:C3770 NCIT:C27031 pancreatic neuroendocrine neoplasm MONDO:0005893 pancreatic endocrine carcinoma MONDO:0009831 NCIT:C3770 NCIT:C9005 malignant pancreatic neoplasm -MONDO:0005906 peritonsillar abscess MONDO:0005227 NCIT:C128322 NCIT:C26686 abscess -MONDO:0005911 pharyngoconjunctival fever MONDO:0005108 NCIT:C34924 NCIT:C3439 viral infectious disease -MONDO:0005917 placenta disorder MONDO:0024575 NCIT:C26857 NCIT:C35169 pregnancy disorder -MONDO:0005920 Plasmodium falciparum malaria MONDO:0005136 NCIT:C34798 NCIT:C34797 malaria -MONDO:0005921 Plasmodium vivax malaria MONDO:0005136 NCIT:C34800 NCIT:C34797 malaria -MONDO:0005922 pleural tuberculosis MONDO:0000986 NCIT:C26898 NCIT:C26860 pleurisy -MONDO:0005929 postpartum depression MONDO:0002050 NCIT:C92852 NCIT:C2982 depressive disorder MONDO:0005933 pulmonary blastoma MONDO:0006279 NCIT:C3732 NCIT:C45540 lung sarcomatoid carcinoma MONDO:0005941 retroperitoneal cancer MONDO:0024645 NCIT:C3537 NCIT:C3357 retroperitoneal neoplasm -MONDO:0005942 Reye syndrome MONDO:0002254 NCIT:C34983 NCIT:C28193 syndromic disease -MONDO:0005952 scarlet fever MONDO:0021680 NCIT:C94575 NCIT:C87062 streptococcal infection MONDO:0005953 scirrhous adenocarcinoma MONDO:0004970 NCIT:C2928 NCIT:C2852 adenocarcinoma -MONDO:0005960 silicosis MONDO:0015926 NCIT:C3369 NCIT:C26861 pneumoconiosis -MONDO:0005964 sphenoid sinusitis MONDO:0005961 NCIT:C35031 NCIT:C35024 sinusitis MONDO:0005966 spleen cancer MONDO:0036696 NCIT:C3539 NCIT:C3383 spleen neoplasm -MONDO:0005971 staphyloenterotoxemia MONDO:0024313 NCIT:C35037 NCIT:C35038 staphylococcal infection -MONDO:0005976 syphilis MONDO:0007000 NCIT:C35055 NCIT:C85197 Treponema infectious disease -MONDO:0005977 tabes dorsalis MONDO:0004944 NCIT:C35057 NCIT:C84935 neurosyphilis -MONDO:0005979 thoracic outlet syndrome MONDO:0002254 NCIT:C85188 NCIT:C28193 syndromic disease -MONDO:0005982 tinea infection MONDO:0021201 NCIT:C112181 NCIT:C35025 skin infection -MONDO:0005993 Trichomonas vaginitis urogenital infection MONDO:0002154 NCIT:C35083 NCIT:C35720 trichomoniasis -MONDO:0005999 tuberculous empyema MONDO:0005242 NCIT:C34575 NCIT:C34572 empyema -MONDO:0006001 urinary schistosomiasis MONDO:0015254 NCIT:C39294 NCIT:C35000 schistosomiasis -MONDO:0006005 Venezuelan equine encephalitis MONDO:0018087 NCIT:C35121 NCIT:C36170 viral hemorrhagic fever MONDO:0006006 verrucous carcinoma MONDO:0002979 NCIT:C3781 NCIT:C4102 papillary squamous carcinoma -MONDO:0006009 viral encephalitis MONDO:0020067 NCIT:C35302 NCIT:C79550 infectious encephalitis -MONDO:0006011 viral hepatitis MONDO:0002251 NCIT:C35124 NCIT:C3095 hepatitis -MONDO:0006015 Waterhouse-Friderichsen syndrome MONDO:0002254 NCIT:C85225 NCIT:C28193 syndromic disease -MONDO:0006026 urinary bladder disorder MONDO:0002118 NCIT:C2900 NCIT:C3430 urinary system disorder MONDO:0006028 cecum adenocarcinoma MONDO:0002271 NCIT:C5543 NCIT:C4349 colon adenocarcinoma MONDO:0006028 cecum adenocarcinoma MONDO:0006029 NCIT:C5543 NCIT:C3491 cecum carcinoma MONDO:0006029 cecum carcinoma MONDO:0002032 NCIT:C3491 NCIT:C4910 colon carcinoma MONDO:0006029 cecum carcinoma MONDO:0002033 NCIT:C3491 NCIT:C9329 cecum cancer -MONDO:0006030 chronic cystitis MONDO:0006032 NCIT:C27008 NCIT:C26738 cystitis -MONDO:0006031 chronic rhinosinusitis MONDO:0005961 NCIT:C35151 NCIT:C35024 sinusitis MONDO:0006034 gastric adenosquamous carcinoma MONDO:0006074 NCIT:C5474 NCIT:C3727 adenosquamous carcinoma MONDO:0006035 gastric tubular adenocarcinoma MONDO:0005606 NCIT:C5473 NCIT:C65192 tubular adenocarcinoma MONDO:0006036 granulosa cell tumor MONDO:0006055 NCIT:C3070 NCIT:C3794 sex cord-stromal tumor -MONDO:0006039 infectious colitis MONDO:0005292 NCIT:C78359 NCIT:C26723 colitis -MONDO:0006039 infectious colitis MONDO:0043424 NCIT:C78359 NCIT:C35503 digestive system infectious disorder MONDO:0006041 lung carcinoid tumor MONDO:0005454 NCIT:C4038 NCIT:C5670 lung neuroendocrine neoplasm -MONDO:0006042 meningeal tuberculosis MONDO:0006670 NCIT:C84888 NCIT:C118297 bacterial meningitis MONDO:0006043 metaplastic breast carcinoma MONDO:0006256 NCIT:C5164 NCIT:C9245 invasive breast carcinoma MONDO:0006045 ovarian clear cell adenocarcinoma MONDO:0000548 NCIT:C40078 NCIT:C40077 ovarian clear cell cancer MONDO:0006045 ovarian clear cell adenocarcinoma MONDO:0002752 NCIT:C40078 NCIT:C7700 ovarian adenocarcinoma @@ -3218,7 +2486,6 @@ MONDO:0006046 ovarian serous cystadenocarcinoma MONDO:0024621 NCIT:C7978 NCIT:C3 MONDO:0006047 pancreatic adenocarcinoma MONDO:0004970 NCIT:C8294 NCIT:C2852 adenocarcinoma MONDO:0006047 pancreatic adenocarcinoma MONDO:0005192 NCIT:C8294 NCIT:C3850 exocrine pancreatic carcinoma MONDO:0006050 pleomorphic breast carcinoma MONDO:0004953 NCIT:C5161 NCIT:C4194 invasive ductal breast carcinoma -MONDO:0006052 pulmonary tuberculosis MONDO:0018076 NCIT:C26899 NCIT:C3423 tuberculosis MONDO:0006053 renal leiomyoma MONDO:0001572 NCIT:C159209 NCIT:C3157 leiomyoma MONDO:0006053 renal leiomyoma MONDO:0002513 NCIT:C159209 NCIT:C4778 kidney benign neoplasm MONDO:0006054 reproductive system neoplasm MONDO:0005039 NCIT:C3674 NCIT:C4875 reproductive system disorder @@ -3230,14 +2497,12 @@ MONDO:0006059 nasal cavity squamous cell carcinoma MONDO:0003212 NCIT:C8192 NCIT MONDO:0006066 acinar prostate adenocarcinoma, foamy gland variant MONDO:0002493 NCIT:C39882 NCIT:C5596 prostatic acinar adenocarcinoma MONDO:0006067 acinar prostate mucinous adenocarcinoma MONDO:0002493 NCIT:C5537 NCIT:C5596 prostatic acinar adenocarcinoma MONDO:0006067 acinar prostate mucinous adenocarcinoma MONDO:0004957 NCIT:C5537 NCIT:C26712 mucinous adenocarcinoma -MONDO:0006068 ACTH-producing pituitary gland adenoma MONDO:0006373 NCIT:C7462 NCIT:C3329 pituitary gland adenoma MONDO:0006069 ACTH-producing pituitary gland carcinoma MONDO:0017582 NCIT:C5964 NCIT:C4536 pituitary adenocarcinoma MONDO:0006076 adrenal gland neuroblastoma MONDO:0003606 NCIT:C4827 NCIT:C4396 adrenal medulla cancer MONDO:0006081 anal melanoma MONDO:0001879 NCIT:C4639 NCIT:C7379 anus cancer MONDO:0006082 anal squamous cell carcinoma MONDO:0003199 NCIT:C9161 NCIT:C9291 anal carcinoma MONDO:0006085 angiolipoma MONDO:0005106 NCIT:C3733 NCIT:C3192 lipoma MONDO:0006087 appendix adenocarcinoma MONDO:0003196 NCIT:C7718 NCIT:C9330 appendix carcinoma -MONDO:0006090 appendix hyperplastic polyp MONDO:0006249 NCIT:C96416 NCIT:C4083 hyperplastic polyp MONDO:0006091 appendix neuroendocrine tumor G1 MONDO:0015066 NCIT:C4138 NCIT:C96422 neuroendocrine tumor of the appendix, well differentiated, low or intermediate grade MONDO:0006092 appendix villous adenoma MONDO:0006088 NCIT:C5512 NCIT:C43550 appendix adenoma MONDO:0006093 ascending colon neuroendocrine tumor G1 MONDO:0006155 NCIT:C6427 NCIT:C5497 colon neuroendocrine tumor G1 @@ -3246,7 +2511,6 @@ MONDO:0006095 atypical carcinoid tumor MONDO:0005369 NCIT:C72074 NCIT:C2915 carc MONDO:0006098 atypical lobular breast hyperplasia MONDO:0002486 NCIT:C4730 NCIT:C27939 lobular neoplasia MONDO:0006102 basaloid carcinoma MONDO:0004993 NCIT:C4121 NCIT:C2916 carcinoma MONDO:0006103 benign adrenal gland pheochromocytoma MONDO:0004974 NCIT:C48305 NCIT:C3326 adrenal gland pheochromocytoma -MONDO:0006103 benign adrenal gland pheochromocytoma MONDO:0021468 NCIT:C48305 NCIT:C4895 benign neoplasm of adrenal medulla MONDO:0006104 benign carotid body paraganglioma MONDO:0021053 NCIT:C79950 NCIT:C2932 carotid body paraganglioma MONDO:0006105 benign conjunctival neoplasm MONDO:0020204 NCIT:C3622 NCIT:C2961 conjunctival tumor MONDO:0006105 benign conjunctival neoplasm MONDO:0021454 NCIT:C3622 NCIT:C4780 benign neoplasm of eye @@ -3258,10 +2522,7 @@ MONDO:0006108 bile duct adenoma MONDO:0021662 NCIT:C2942 NCIT:C2898 bile duct ne MONDO:0006112 bladder inflammatory myofibroblastic tumor MONDO:0015798 NCIT:C6177 NCIT:C6481 inflammatory myofibroblastic tumor MONDO:0006115 blast phase chronic myelogenous leukemia, BCR-ABL1 positive MONDO:0011996 NCIT:C9110 NCIT:C3174 chronic myelogenous leukemia, BCR-ABL1 positive MONDO:0006117 breast diffuse large B-cell lymphoma MONDO:0018905 NCIT:C40375 NCIT:C8851 diffuse large B-cell lymphoma -MONDO:0006118 breast fibrosis MONDO:0003724 NCIT:C3660 NCIT:C6943 non-proliferative fibrocystic change of the breast MONDO:0006119 breast mucosa-associated lymphoid tissue lymphoma MONDO:0007650 NCIT:C35688 NCIT:C3898 MALT lymphoma -MONDO:0006120 C-cell hyperplasia MONDO:0003240 NCIT:C46100 NCIT:C26893 thyroid gland disorder -MONDO:0006120 C-cell hyperplasia MONDO:0005043 NCIT:C46100 NCIT:C3113 hyperplasia MONDO:0006123 cardiac rhabdomyoma MONDO:0036688 NCIT:C6739 NCIT:C3358 rhabdomyoma MONDO:0006126 cecum neuroendocrine tumor G1 MONDO:0005694 NCIT:C5501 NCIT:C4433 cecal neoplasm MONDO:0006126 cecum neuroendocrine tumor G1 MONDO:0006155 NCIT:C5501 NCIT:C5497 colon neuroendocrine tumor G1 @@ -3271,18 +2532,13 @@ MONDO:0006130 central nervous system neoplasm MONDO:0021248 NCIT:C9293 NCIT:C326 MONDO:0006133 cervical adenoid cystic carcinoma MONDO:0004971 NCIT:C6346 NCIT:C2970 adenoid cystic carcinoma MONDO:0006134 cervical adenosquamous carcinoma MONDO:0006074 NCIT:C4519 NCIT:C3727 adenosquamous carcinoma MONDO:0006135 cervical clear cell adenocarcinoma MONDO:0005004 NCIT:C6344 NCIT:C3766 clear cell adenocarcinoma -MONDO:0006138 cervical large cell neuroendocrine carcinoma MONDO:0005057 NCIT:C40214 NCIT:C6875 large cell neuroendocrine carcinoma MONDO:0006140 cervical mucinous adenocarcinoma, minimal deviation variant MONDO:0002742 NCIT:C40206 NCIT:C36095 cervical mucinous adenocarcinoma MONDO:0006141 cervical villoglandular adenocarcinoma MONDO:0003204 NCIT:C40208 NCIT:C4142 villous adenocarcinoma MONDO:0006143 cervical squamous cell carcinoma MONDO:0005096 NCIT:C4028 NCIT:C2929 squamous cell carcinoma MONDO:0006143 cervical squamous cell carcinoma MONDO:0005131 NCIT:C4028 NCIT:C9039 cervical carcinoma MONDO:0006144 cervical Wilms tumor MONDO:0002974 NCIT:C40236 NCIT:C9311 cervical cancer MONDO:0006144 cervical Wilms tumor MONDO:0006058 NCIT:C40236 NCIT:C3267 Wilms tumor -MONDO:0006146 chondroid hamartoma MONDO:0006499 NCIT:C42589 NCIT:C3075 hamartoma MONDO:0006149 clear cell papillary cystadenoma MONDO:0021091 NCIT:C65203 NCIT:C2974 papillary cystadenoma -MONDO:0006152 colon inflammatory polyp MONDO:0021400 NCIT:C5517 NCIT:C2954 polyp of colon -MONDO:0006153 colon juvenile polyp MONDO:0006161 NCIT:C5518 NCIT:C5681 colorectal juvenile polyp -MONDO:0006153 colon juvenile polyp MONDO:0021400 NCIT:C5518 NCIT:C2954 polyp of colon MONDO:0006155 colon neuroendocrine tumor G1 MONDO:0006162 NCIT:C5497 NCIT:C96160 colorectal neuroendocrine tumor G1 MONDO:0006155 colon neuroendocrine tumor G1 MONDO:0015067 NCIT:C5497 NCIT:C135212 neuroendocrine tumor of the colon, well differentiated, low or intermediate grade tumor MONDO:0006156 colon sessile serrated adenoma/polyp MONDO:0000527 NCIT:C96464 NCIT:C3864 colon adenoma @@ -3290,20 +2546,14 @@ MONDO:0006156 colon sessile serrated adenoma/polyp MONDO:0006164 NCIT:C96464 NCI MONDO:0006156 colon sessile serrated adenoma/polyp MONDO:0021400 NCIT:C96464 NCIT:C2954 polyp of colon MONDO:0006157 colorectal adenosquamous carcinoma MONDO:0006074 NCIT:C43589 NCIT:C3727 adenosquamous carcinoma MONDO:0006159 colorectal gastrointestinal stromal tumor MONDO:0005335 NCIT:C27735 NCIT:C2956 colorectal neoplasm -MONDO:0006160 colorectal hamartoma MONDO:0006231 NCIT:C96474 NCIT:C96475 gastrointestinal hamartoma -MONDO:0006160 colorectal hamartoma MONDO:0021392 NCIT:C96474 NCIT:C5679 polyp of large intestine -MONDO:0006161 colorectal juvenile polyp MONDO:0006160 NCIT:C5681 NCIT:C96474 colorectal hamartoma -MONDO:0006161 colorectal juvenile polyp MONDO:0006258 NCIT:C5681 NCIT:C3826 juvenile polyp MONDO:0006162 colorectal neuroendocrine tumor G1 MONDO:0021533 NCIT:C96160 NCIT:C4637 intestinal neuroendocrine tumor G1 MONDO:0006163 colorectal serrated adenocarcinoma MONDO:0005008 NCIT:C96485 NCIT:C5105 colorectal adenocarcinoma MONDO:0006164 colorectal sessile serrated adenoma/polyp MONDO:0005484 NCIT:C83176 NCIT:C5673 colorectal adenoma MONDO:0006165 colorectal squamous cell carcinoma MONDO:0005096 NCIT:C43588 NCIT:C2929 squamous cell carcinoma MONDO:0006165 colorectal squamous cell carcinoma MONDO:0024331 NCIT:C43588 NCIT:C2955 colorectal carcinoma -MONDO:0006170 conjunctival disorder MONDO:0005328 NCIT:C27605 NCIT:C26767 eye disorder MONDO:0006172 conjunctival nevus MONDO:0005073 NCIT:C4551 NCIT:C7570 melanocytic nevus MONDO:0006172 conjunctival nevus MONDO:0006105 NCIT:C4551 NCIT:C3622 benign conjunctival neoplasm MONDO:0006174 cortisol-producing adrenal cortex adenoma MONDO:0003924 NCIT:C48449 NCIT:C9003 adrenal cortex adenoma -MONDO:0006176 cribriform carcinoma MONDO:0004993 NCIT:C3680 NCIT:C2916 carcinoma MONDO:0006179 desmoplastic ameloblastoma MONDO:0017795 NCIT:C39758 NCIT:C4313 ameloblastoma MONDO:0006180 digestive system adenoma MONDO:0004972 NCIT:C36207 NCIT:C2855 adenoma MONDO:0006181 digestive system carcinoma MONDO:0002516 NCIT:C96963 NCIT:C4890 digestive system cancer @@ -3322,7 +2572,6 @@ MONDO:0006195 endometrial polyp MONDO:0004701 NCIT:C6433 NCIT:C3662 uterine poly MONDO:0006196 endometrial serous adenocarcinoma MONDO:0005278 NCIT:C27838 NCIT:C40101 serous adenocarcinoma MONDO:0006198 endometrial squamous cell carcinoma MONDO:0002447 NCIT:C8719 NCIT:C7558 endometrial carcinoma MONDO:0006198 endometrial squamous cell carcinoma MONDO:0005096 NCIT:C8719 NCIT:C2929 squamous cell carcinoma -MONDO:0006199 endometrial undifferentiated carcinoma MONDO:0002447 NCIT:C40156 NCIT:C7558 endometrial carcinoma MONDO:0006199 endometrial undifferentiated carcinoma MONDO:0005617 NCIT:C40156 NCIT:C3692 undifferentiated carcinoma MONDO:0006200 epithelioid cell uveal melanoma MONDO:0002973 NCIT:C35780 NCIT:C4236 epithelioid cell melanoma MONDO:0006200 epithelioid cell uveal melanoma MONDO:0006486 NCIT:C35780 NCIT:C7712 uveal melanoma @@ -3334,8 +2583,6 @@ MONDO:0006208 fallopian tube serous adenocarcinoma MONDO:0002746 NCIT:C40099 NCI MONDO:0006208 fallopian tube serous adenocarcinoma MONDO:0005278 NCIT:C40099 NCIT:C40101 serous adenocarcinoma MONDO:0006209 fibroblastic neoplasm MONDO:0002616 NCIT:C7075 NCIT:C7059 mesenchymal cell neoplasm MONDO:0006210 fibrolamellar hepatocellular carcinoma MONDO:0007256 NCIT:C4131 NCIT:C3099 hepatocellular carcinoma -MONDO:0006211 fibrous hamartoma of infancy MONDO:0024478 NCIT:C3942 NCIT:C40427 mesenchymal hamartoma -MONDO:0006212 flat urothelial hyperplasia MONDO:0024483 NCIT:C27878 NCIT:C27877 urothelial hyperplasia MONDO:0006213 floor of mouth mucoepidermoid carcinoma MONDO:0021343 NCIT:C8178 NCIT:C9319 carcinoma of floor of mouth MONDO:0006213 floor of mouth mucoepidermoid carcinoma MONDO:0044964 NCIT:C8178 NCIT:C8177 oral cavity mucoepidermoid carcinoma MONDO:0006215 gallbladder adenocarcinoma MONDO:0003220 NCIT:C9166 NCIT:C3844 gallbladder carcinoma @@ -3350,19 +2597,16 @@ MONDO:0006221 gastric adenoma MONDO:0008277 NCIT:C7699 NCIT:C3954 stomach polyp MONDO:0006222 gastric choriocarcinoma MONDO:0003112 NCIT:C95749 NCIT:C5486 malignant gastric germ cell tumor MONDO:0006222 gastric choriocarcinoma MONDO:0003578 NCIT:C95749 NCIT:C8885 extragonadal nonseminomatous germ cell tumor MONDO:0006222 gastric choriocarcinoma MONDO:0005207 NCIT:C95749 NCIT:C2948 choriocarcinoma -MONDO:0006224 gastric hamartomatous polyp MONDO:0006231 NCIT:C4373 NCIT:C96475 gastrointestinal hamartoma MONDO:0006225 gastric mantle cell lymphoma MONDO:0018876 NCIT:C27440 NCIT:C4337 mantle cell lymphoma MONDO:0006226 gastric mucosa-associated lymphoid tissue lymphoma MONDO:0042493 NCIT:C5266 NCIT:C27235 gastric non-hodgkin lymphoma MONDO:0006227 gastric neuroendocrine tumor G1 MONDO:0015062 NCIT:C4635 NCIT:C95871 gastric neuroendocrine tumor, well differentiated, low or intermediate grade MONDO:0006228 gastric papillary adenocarcinoma MONDO:0002512 NCIT:C5472 NCIT:C2853 papillary adenocarcinoma MONDO:0006230 gastric squamous cell carcinoma MONDO:0004950 NCIT:C5475 NCIT:C4911 gastric carcinoma MONDO:0006230 gastric squamous cell carcinoma MONDO:0005096 NCIT:C5475 NCIT:C2929 squamous cell carcinoma -MONDO:0006231 gastrointestinal hamartoma MONDO:0024292 NCIT:C96475 NCIT:C35516 gastrointestinal polyp MONDO:0006233 gonadal teratoma MONDO:0002601 NCIT:C98291 NCIT:C3403 teratoma +MONDO:0006234 grade III prostatic intraepithelial neoplasia MONDO:0005159 NCIT:C3642 NCIT:C4863 prostate carcinoma MONDO:0006235 granular cell tumor MONDO:0002547 NCIT:C3474 NCIT:C4972 nerve sheath neoplasm MONDO:0006237 granulocytic sarcoma MONDO:0006861 NCIT:C35815 NCIT:C3520 myeloid sarcoma -MONDO:0006238 growth hormone-producing pituitary gland adenoma MONDO:0006373 NCIT:C7461 NCIT:C3329 pituitary gland adenoma -MONDO:0006239 head and neck paraganglioma MONDO:0005586 NCIT:C5327 NCIT:C3077 head and neck neoplasm MONDO:0006243 hepatoid adenocarcinoma MONDO:0004970 NCIT:C66950 NCIT:C2852 adenocarcinoma MONDO:0006244 HER2 positive breast carcinoma MONDO:0006116 NCIT:C53556 NCIT:C53553 breast carcinoma by gene expression profile MONDO:0006245 hidradenocarcinoma MONDO:0005004 NCIT:C54664 NCIT:C3766 clear cell adenocarcinoma @@ -3378,7 +2622,6 @@ MONDO:0006256 invasive breast carcinoma MONDO:0004989 NCIT:C9245 NCIT:C4872 brea MONDO:0006256 invasive breast carcinoma MONDO:0040677 NCIT:C9245 NCIT:C9480 invasive carcinoma MONDO:0006257 jejunal neuroendocrine tumor G1 MONDO:0000540 NCIT:C6429 NCIT:C4638 small intestinal neuroendocrine tumor G1 MONDO:0006257 jejunal neuroendocrine tumor G1 MONDO:0015064 NCIT:C6429 NCIT:C135090 jejunal neuroendocrine tumor, well differentiated, low or intermediate grade -MONDO:0006258 juvenile polyp MONDO:0006231 NCIT:C3826 NCIT:C96475 gastrointestinal hamartoma MONDO:0006262 lacrimal gland adenoid cystic carcinoma MONDO:0004971 NCIT:C4540 NCIT:C2970 adenoid cystic carcinoma MONDO:0006264 laryngeal adenoid cystic carcinoma MONDO:0002358 NCIT:C9462 NCIT:C4855 laryngeal carcinoma MONDO:0006264 laryngeal adenoid cystic carcinoma MONDO:0004971 NCIT:C9462 NCIT:C2970 adenoid cystic carcinoma @@ -3386,6 +2629,7 @@ MONDO:0006266 Leydig cell tumor MONDO:0006055 NCIT:C3188 NCIT:C3794 sex cord-str MONDO:0006267 liver cavernous hemangioma MONDO:0002404 NCIT:C96839 NCIT:C3869 liver hemangioma MONDO:0006267 liver cavernous hemangioma MONDO:0003155 NCIT:C96839 NCIT:C3086 cavernous hemangioma MONDO:0006270 lobular breast carcinoma in situ MONDO:0002486 NCIT:C4018 NCIT:C27939 lobular neoplasia +MONDO:0006272 low grade fibromyxoid sarcoma MONDO:0005164 NCIT:C45202 NCIT:C3043 fibrosarcoma MONDO:0006273 low grade fibromyxoid sarcoma with giant collagen rosettes MONDO:0006272 NCIT:C45203 NCIT:C45202 low grade fibromyxoid sarcoma MONDO:0006275 lung giant cell carcinoma MONDO:0006279 NCIT:C4452 NCIT:C45540 lung sarcomatoid carcinoma MONDO:0006276 lung inflammatory myofibroblastic tumor MONDO:0015798 NCIT:C39740 NCIT:C6481 inflammatory myofibroblastic tumor @@ -3406,7 +2650,6 @@ MONDO:0006290 malignant germ cell tumor MONDO:0004992 NCIT:C4925 NCIT:C9305 canc MONDO:0006290 malignant germ cell tumor MONDO:0005040 NCIT:C4925 NCIT:C3708 germ cell tumor MONDO:0006291 malignant jugulotympanic paraganglioma MONDO:0021064 NCIT:C4623 NCIT:C3061 jugulotympanic paraganglioma MONDO:0006292 malignant mesothelioma MONDO:0004992 NCIT:C4456 NCIT:C9305 cancer -MONDO:0006292 malignant mesothelioma MONDO:0005065 NCIT:C4456 NCIT:C3234 mesothelioma MONDO:0006294 pleural cancer MONDO:0003274 NCIT:C3547 NCIT:C3576 thoracic cancer MONDO:0006294 pleural cancer MONDO:0021065 NCIT:C3547 NCIT:C3332 pleural neoplasm MONDO:0006295 malignant urinary system neoplasm MONDO:0021066 NCIT:C9297 NCIT:C3431 urinary system neoplasm @@ -3422,14 +2665,11 @@ MONDO:0006304 minor salivary gland adenocarcinoma MONDO:0045069 NCIT:C5948 NCIT: MONDO:0006306 mixed lobular and ductal breast carcinoma MONDO:0004988 NCIT:C5160 NCIT:C5214 breast adenocarcinoma MONDO:0006309 mucinous gastric adenocarcinoma MONDO:0004957 NCIT:C5248 NCIT:C26712 mucinous adenocarcinoma MONDO:0006312 myofibroma MONDO:0003342 NCIT:C7052 NCIT:C6529 benign perivascular tumor -MONDO:0006314 nasal cavity polyp MONDO:0002232 NCIT:C3256 NCIT:C27102 nasal cavity disorder -MONDO:0006314 nasal cavity polyp MONDO:0005079 NCIT:C3256 NCIT:C3340 polyp MONDO:0006316 neuroblastic tumor MONDO:0005462 NCIT:C6963 NCIT:C3716 primitive neuroectodermal tumor MONDO:0006317 neurothekeoma MONDO:0002547 NCIT:C7018 NCIT:C4972 nerve sheath neoplasm MONDO:0006320 non-cutaneous melanoma MONDO:0005105 NCIT:C8711 NCIT:C3224 melanoma MONDO:0006321 non-functioning adrenal cortex adenoma MONDO:0003924 NCIT:C48458 NCIT:C9003 adrenal cortex adenoma MONDO:0006321 non-functioning adrenal cortex adenoma MONDO:0021119 NCIT:C48458 NCIT:C94760 non-functioning endocrine neoplasm -MONDO:0006322 non-neoplastic bile duct disorder MONDO:0002887 NCIT:C35774 NCIT:C96716 bile duct disorder MONDO:0006324 normal breast-like subtype of breast carcinoma MONDO:0006116 NCIT:C53557 NCIT:C53553 breast carcinoma by gene expression profile MONDO:0006325 ocular melanoma MONDO:0002236 NCIT:C8562 NCIT:C4767 ocular cancer MONDO:0006325 ocular melanoma MONDO:0005105 NCIT:C8562 NCIT:C3224 melanoma @@ -3442,7 +2682,6 @@ MONDO:0006335 ovarian endometrioid adenocarcinoma MONDO:0002752 NCIT:C7979 NCIT: MONDO:0006335 ovarian endometrioid adenocarcinoma MONDO:0003812 NCIT:C7979 NCIT:C40051 ovarian endometrial cancer MONDO:0006335 ovarian endometrioid adenocarcinoma MONDO:0005026 NCIT:C7979 NCIT:C3769 endometrioid adenocarcinoma MONDO:0006336 ovarian endometrioid adenocarcinoma with squamous differentiation MONDO:0006335 NCIT:C40061 NCIT:C7979 ovarian endometrioid adenocarcinoma -MONDO:0006337 ovarian endometriosis MONDO:0005133 NCIT:C27628 NCIT:C3014 endometriosis MONDO:0006339 ovarian microcystic stromal tumor MONDO:0024387 NCIT:C121953 NCIT:C6803 benign ovarian sex cord-stromal tumor MONDO:0006340 ovarian serous adenofibroma MONDO:0024886 NCIT:C40031 NCIT:C67090 serous adenofibroma MONDO:0006343 ovarian transitional cell carcinoma MONDO:0005140 NCIT:C5240 NCIT:C4908 ovarian carcinoma @@ -3461,7 +2700,6 @@ MONDO:0006350 papillary transitional cell carcinoma MONDO:0006509 NCIT:C4122 NCI MONDO:0006351 parachordoma MONDO:0002380 NCIT:C6581 NCIT:C40392 myoepithelial tumor MONDO:0006352 paranasal sinus adenoid cystic carcinoma MONDO:0000380 NCIT:C6019 NCIT:C6014 paranasal sinus carcinoma MONDO:0006352 paranasal sinus adenoid cystic carcinoma MONDO:0004971 NCIT:C6019 NCIT:C2970 adenoid cystic carcinoma -MONDO:0006354 parathyroid hyperplasia MONDO:0005043 NCIT:C3989 NCIT:C3113 hyperplasia MONDO:0006356 parotid gland adenoid cystic carcinoma MONDO:0021331 NCIT:C5937 NCIT:C6791 carcinoma of parotid gland MONDO:0006356 parotid gland adenoid cystic carcinoma MONDO:0045063 NCIT:C5937 NCIT:C5905 major salivary gland adenoid cystic carcinoma MONDO:0006357 parotid gland carcinoma ex pleomorphic adenoma MONDO:0006285 NCIT:C5974 NCIT:C5975 major salivary gland carcinoma ex pleomorphic adenoma @@ -3469,14 +2707,10 @@ MONDO:0006357 parotid gland carcinoma ex pleomorphic adenoma MONDO:0021331 NCIT: MONDO:0006358 parotid gland squamous cell carcinoma MONDO:0021331 NCIT:C5942 NCIT:C6791 carcinoma of parotid gland MONDO:0006360 penile carcinoma MONDO:0001325 NCIT:C9061 NCIT:C7547 penile cancer MONDO:0006361 penile fibromatosis MONDO:0016037 NCIT:C3316 NCIT:C6814 superficial Fibromatosis -MONDO:0006362 peritoneal mesothelioma MONDO:0005065 NCIT:C7633 NCIT:C3234 mesothelioma MONDO:0006362 peritoneal mesothelioma MONDO:0006901 NCIT:C7633 NCIT:C3322 peritoneal neoplasm MONDO:0006363 peritoneal multicystic mesothelioma MONDO:0006362 NCIT:C6536 NCIT:C7633 peritoneal mesothelioma MONDO:0006364 peritoneal well differentiated papillary mesothelioma MONDO:0003688 NCIT:C45661 NCIT:C7635 well differentiated papillary mesothelioma MONDO:0006364 peritoneal well differentiated papillary mesothelioma MONDO:0006362 NCIT:C45661 NCIT:C7633 peritoneal mesothelioma -MONDO:0006365 Peutz-Jeghers polyp MONDO:0006231 NCIT:C4733 NCIT:C96475 gastrointestinal hamartoma -MONDO:0006366 Peutz-Jeghers polyp of the stomach MONDO:0006224 NCIT:C36205 NCIT:C4373 gastric hamartomatous polyp -MONDO:0006366 Peutz-Jeghers polyp of the stomach MONDO:0006365 NCIT:C36205 NCIT:C4733 Peutz-Jeghers polyp MONDO:0006367 pharyngeal adenoid cystic carcinoma MONDO:0004971 NCIT:C5818 NCIT:C2970 adenoid cystic carcinoma MONDO:0006367 pharyngeal adenoid cystic carcinoma MONDO:0021345 NCIT:C5818 NCIT:C9466 carcinoma of pharynx MONDO:0006369 pineal parenchymal tumor of intermediate differentiation MONDO:0024890 NCIT:C6967 NCIT:C6965 pineal parenchymal cell neoplasm @@ -3496,7 +2730,6 @@ MONDO:0006387 primary pulmonary diffuse large B-cell lymphoma MONDO:0020644 NCIT MONDO:0006388 prolactin-producing pituitary gland carcinoma MONDO:0017582 NCIT:C5962 NCIT:C4536 pituitary adenocarcinoma MONDO:0006389 prostate rhabdomyosarcoma MONDO:0002854 NCIT:C5522 NCIT:C7731 prostate sarcoma MONDO:0006389 prostate rhabdomyosarcoma MONDO:0005212 NCIT:C5522 NCIT:C3359 rhabdomyosarcoma -MONDO:0006392 rectal hyperplastic polyp MONDO:0021398 NCIT:C5619 NCIT:C3351 polyp of rectum MONDO:0006393 rectal traditional serrated adenoma MONDO:0000530 NCIT:C96463 NCIT:C5546 rectum adenoma MONDO:0006395 rectal tubulovillous adenoma MONDO:0024662 NCIT:C5620 NCIT:C5675 colorectal tubulovillous adenoma MONDO:0006398 retroperitoneal inflammatory myofibroblastic tumor MONDO:0015798 NCIT:C39741 NCIT:C6481 inflammatory myofibroblastic tumor @@ -3552,8 +2785,6 @@ MONDO:0006462 thyroid gland diffuse large B-cell lymphoma MONDO:0018905 NCIT:C60 MONDO:0006463 thyroid gland mucoepidermoid carcinoma MONDO:0003036 NCIT:C38762 NCIT:C3772 mucoepidermoid carcinoma MONDO:0006464 thyroid gland mucosa-associated lymphoid tissue lymphoma MONDO:0007650 NCIT:C7601 NCIT:C3898 MALT lymphoma MONDO:0006466 thyroid gland spindle cell tumor with thymus-like differentiation MONDO:0015075 NCIT:C46105 NCIT:C4815 thyroid gland carcinoma -MONDO:0006467 thyroid gland squamous cell carcinoma MONDO:0005096 NCIT:C46008 NCIT:C2929 squamous cell carcinoma -MONDO:0006467 thyroid gland squamous cell carcinoma MONDO:0015075 NCIT:C46008 NCIT:C4815 thyroid gland carcinoma MONDO:0006468 thyroid gland undifferentiated (anaplastic) carcinoma MONDO:0005232 NCIT:C3878 NCIT:C3780 large cell carcinoma MONDO:0006468 thyroid gland undifferentiated (anaplastic) carcinoma MONDO:0005617 NCIT:C3878 NCIT:C3692 undifferentiated carcinoma MONDO:0006468 thyroid gland undifferentiated (anaplastic) carcinoma MONDO:0015075 NCIT:C3878 NCIT:C4815 thyroid gland carcinoma @@ -3579,104 +2810,43 @@ MONDO:0006488 vaginal carcinosarcoma MONDO:0037746 NCIT:C40278 NCIT:C40276 malig MONDO:0006490 vaginal squamous cell carcinoma MONDO:0001806 NCIT:C180915 NCIT:C40242 vaginal squamous tumor MONDO:0006490 vaginal squamous cell carcinoma MONDO:0005096 NCIT:C180915 NCIT:C2929 squamous cell carcinoma MONDO:0006490 vaginal squamous cell carcinoma MONDO:0015867 NCIT:C180915 NCIT:C3917 vaginal carcinoma -MONDO:0006491 vulvar lichen sclerosus MONDO:0001938 NCIT:C27723 NCIT:C34565 vulvar dystrophy -MONDO:0006491 vulvar lichen sclerosus MONDO:0007899 NCIT:C27723 NCIT:C26817 lichen sclerosus et atrophicus MONDO:0006493 Warthin tumor MONDO:0036976 NCIT:C2854 NCIT:C4092 benign epithelial neoplasm MONDO:0006498 adenomatous colon polyp MONDO:0000527 NCIT:C96479 NCIT:C3864 colon adenoma MONDO:0006498 adenomatous colon polyp MONDO:0021400 NCIT:C96479 NCIT:C2954 polyp of colon MONDO:0006500 hemangioma MONDO:0024286 NCIT:C3085 NCIT:C8537 benign blood vessel neoplasm -MONDO:0006502 acute respiratory distress syndrome MONDO:0002254 NCIT:C3353 NCIT:C28193 syndromic disease -MONDO:0006507 hereditary hemochromatosis MONDO:0001436 NCIT:C84481 NCIT:C82892 hemosiderosis MONDO:0006509 papillary carcinoma MONDO:0004993 NCIT:C2927 NCIT:C2916 carcinoma MONDO:0006509 papillary carcinoma MONDO:0021096 NCIT:C2927 NCIT:C8429 papillary epithelial neoplasm -MONDO:0006515 acute pancreatitis MONDO:0004982 NCIT:C95437 NCIT:C3306 pancreatitis MONDO:0006517 childhood malignant neoplasm MONDO:0004992 NCIT:C4005 NCIT:C9305 cancer MONDO:0006517 childhood malignant neoplasm MONDO:0021079 NCIT:C4005 NCIT:C6283 childhood neoplasm MONDO:0006519 rectal cancer MONDO:0002165 NCIT:C7418 NCIT:C3350 rectal neoplasm MONDO:0006519 rectal cancer MONDO:0005575 NCIT:C7418 NCIT:C4978 colorectal cancer -MONDO:0006520 Achenbach syndrome MONDO:0002254 NCIT:C35467 NCIT:C28193 syndromic disease -MONDO:0006521 acneiform dermatitis MONDO:0002406 NCIT:C35277 NCIT:C2983 dermatitis -MONDO:0006522 acquired keratosis MONDO:0006566 NCIT:C34746 NCIT:C34745 keratosis -MONDO:0006523 acrodermatitis MONDO:0002406 NCIT:C84532 NCIT:C2983 dermatitis -MONDO:0006525 allergic contact dermatitis MONDO:0005480 NCIT:C26998 NCIT:C26743 contact dermatitis -MONDO:0006533 cholesteatoma of middle ear MONDO:0006530 NCIT:C3654 NCIT:C2944 cholesteatoma MONDO:0006539 diffuse lipomatosis MONDO:0006574 NCIT:C6504 NCIT:C3193 lipomatosis -MONDO:0006544 erythema infectiosum MONDO:0005108 NCIT:C84695 NCIT:C3439 viral infectious disease -MONDO:0006549 fibroepithelial polyp of the anus MONDO:0060765 NCIT:C4435 NCIT:C3337 fibroepithelial polyp -MONDO:0006549 fibroepithelial polyp of the anus MONDO:0060766 NCIT:C4435 NCIT:C3957 anal polyp -MONDO:0006550 fibroepithelial polyp of urethra MONDO:0060765 NCIT:C6170 NCIT:C3337 fibroepithelial polyp -MONDO:0006555 granulomatous dermatitis MONDO:0002406 NCIT:C3505 NCIT:C2983 dermatitis MONDO:0006557 hemangioma of subcutaneous tissue MONDO:0006500 NCIT:C8540 NCIT:C3085 hemangioma MONDO:0006563 inverted follicular keratosis MONDO:0008420 NCIT:C9007 NCIT:C9006 seborrheic keratosis -MONDO:0006564 irritant dermatitis MONDO:0005480 NCIT:C27151 NCIT:C26743 contact dermatitis -MONDO:0006567 kernicterus due to isoimmunization MONDO:0018477 NCIT:C101270 NCIT:C84799 bilirubin encephalopathy -MONDO:0006572 lichen planus MONDO:0002406 NCIT:C3189 NCIT:C2983 dermatitis -MONDO:0006573 lipodystrophy MONDO:0005066 NCIT:C97093 NCIT:C3235 metabolic disease MONDO:0006574 lipomatosis MONDO:0044983 NCIT:C3193 NCIT:C4502 benign lipomatous neoplasm -MONDO:0006577 maxillary sinus cholesteatoma MONDO:0006530 NCIT:C35868 NCIT:C2944 cholesteatoma MONDO:0006578 mediastinal lipomatosis MONDO:0006574 NCIT:C27488 NCIT:C3193 lipomatosis MONDO:0006579 melanoacanthoma MONDO:0008420 NCIT:C27548 NCIT:C9006 seborrheic keratosis -MONDO:0006585 neurodermatitis MONDO:0002406 NCIT:C111963 NCIT:C2983 dermatitis -MONDO:0006590 palmoplantar keratosis MONDO:0006566 NCIT:C34748 NCIT:C34745 keratosis MONDO:0006593 pelvic lipomatosis MONDO:0006574 NCIT:C27486 NCIT:C3193 lipomatosis -MONDO:0006601 pityriasis rosea MONDO:0002406 NCIT:C26855 NCIT:C2983 dermatitis -MONDO:0006608 seborrheic dermatitis MONDO:0002406 NCIT:C111888 NCIT:C2983 dermatitis -MONDO:0006611 skin sarcoidosis MONDO:0019338 NCIT:C34996 NCIT:C34995 sarcoidosis MONDO:0006612 steroid lipomatosis MONDO:0006574 NCIT:C27487 NCIT:C3193 lipomatosis -MONDO:0006620 vulva fibroepithelial polyp MONDO:0021396 NCIT:C6857 NCIT:C3978 polyp of vulva -MONDO:0006620 vulva fibroepithelial polyp MONDO:0060765 NCIT:C6857 NCIT:C3337 fibroepithelial polyp MONDO:0006621 vulvar inverted follicular keratosis MONDO:0006563 NCIT:C40291 NCIT:C9007 inverted follicular keratosis MONDO:0006621 vulvar inverted follicular keratosis MONDO:0006622 NCIT:C40291 NCIT:C6375 vulvar seborrheic keratosis MONDO:0006622 vulvar seborrheic keratosis MONDO:0002195 NCIT:C6375 NCIT:C40283 vulvar squamous neoplasm MONDO:0006622 vulvar seborrheic keratosis MONDO:0008420 NCIT:C6375 NCIT:C9006 seborrheic keratosis -MONDO:0006626 diabetic neuropathy MONDO:0005244 NCIT:C26748 NCIT:C4731 peripheral neuropathy -MONDO:0006629 osteoarthritis, hip MONDO:0005178 NCIT:C34876 NCIT:C3293 osteoarthritis -MONDO:0006633 acalculous cholecystitis MONDO:0002155 NCIT:C35578 NCIT:C34465 cholecystitis -MONDO:0006637 acute kidney tubular necrosis MONDO:0002492 NCIT:C34749 NCIT:C26808 acute kidney failure MONDO:0006639 adrenal cortex carcinoma MONDO:0021312 NCIT:C9325 NCIT:C9327 malignant tumor of adrenal cortex -MONDO:0006644 alcoholic liver cirrhosis MONDO:0005155 NCIT:C34782 NCIT:C2951 cirrhosis of liver -MONDO:0006644 alcoholic liver cirrhosis MONDO:0043693 NCIT:C34782 NCIT:C34783 alcoholic liver diseases MONDO:0006646 angioleiomyoma MONDO:0003342 NCIT:C3747 NCIT:C6529 benign perivascular tumor -MONDO:0006651 anterior uveitis MONDO:0020283 NCIT:C35109 NCIT:C26909 uveitis -MONDO:0006653 anthracosilicosis MONDO:0015926 NCIT:C34389 NCIT:C26861 pneumoconiosis -MONDO:0006654 anthracosis MONDO:0015926 NCIT:C34390 NCIT:C26861 pneumoconiosis -MONDO:0006656 aortitis MONDO:0018882 NCIT:C97085 NCIT:C26912 vasculitis -MONDO:0006662 aseptic meningitis MONDO:0021108 NCIT:C118299 NCIT:C26828 meningitis -MONDO:0006665 chronic atrophic gastritis MONDO:0005001 NCIT:C7405 NCIT:C26929 chronic gastritis -MONDO:0006668 bacterial conjunctivitis MONDO:0005113 NCIT:C53656 NCIT:C2890 bacterial infectious disease -MONDO:0006670 bacterial meningitis MONDO:0004796 NCIT:C118297 NCIT:C79598 infectious meningitis -MONDO:0006670 bacterial meningitis MONDO:0005113 NCIT:C118297 NCIT:C2890 bacterial infectious disease -MONDO:0006676 beriberi MONDO:0042976 NCIT:C34418 NCIT:C35129 vitamin B deficiency -MONDO:0006683 brachial plexus neuropathy MONDO:0024432 NCIT:C27194 NCIT:C27744 nerve plexus disorder -MONDO:0006687 burning mouth syndrome MONDO:0002254 NCIT:C62545 NCIT:C28193 syndromic disease -MONDO:0006694 cerebral atherosclerosis MONDO:0005311 NCIT:C34459 NCIT:C35768 atherosclerosis MONDO:0006700 choroid cancer MONDO:0002659 NCIT:C3566 NCIT:C6105 uveal cancer MONDO:0006700 choroid cancer MONDO:0021258 NCIT:C3566 NCIT:C2949 choroid neoplasm -MONDO:0006711 constrictive pericarditis MONDO:0005904 NCIT:C78246 NCIT:C34915 pericarditis MONDO:0006717 cutaneous fibrous histiocytoma MONDO:0002989 NCIT:C6801 NCIT:C3739 benign fibrous histiocytoma -MONDO:0006733 dry eye syndrome MONDO:0002254 NCIT:C34553 NCIT:C28193 syndromic disease MONDO:0006734 benign duodenal neoplasm MONDO:0021375 NCIT:C4775 NCIT:C2995 tumor of duodenum MONDO:0006734 benign duodenal neoplasm MONDO:0021501 NCIT:C4775 NCIT:C3600 benign neoplasm of small intestine MONDO:0006738 eccrine acrospiroma MONDO:0021489 NCIT:C27273 NCIT:C4879 benign neoplasm of sweat gland -MONDO:0006740 empty sella syndrome MONDO:0002254 NCIT:C84686 NCIT:C28193 syndromic disease -MONDO:0006742 endemic goiter MONDO:0005397 NCIT:C35023 NCIT:C26785 goiter MONDO:0006749 mixed epithelioid and spindle cell melanoma MONDO:0005105 NCIT:C66756 NCIT:C3224 melanoma -MONDO:0006755 euthyroid sick syndrome MONDO:0002254 NCIT:C113170 NCIT:C28193 syndromic disease -MONDO:0006767 gastric antral vascular ectasia MONDO:0021658 NCIT:C84724 NCIT:C45481 vascular ectasia MONDO:0006787 hidrocystoma MONDO:0021489 NCIT:C3760 NCIT:C4879 benign neoplasm of sweat gland -MONDO:0006794 hypersensitivity vasculitis MONDO:0018882 NCIT:C82863 NCIT:C26912 vasculitis -MONDO:0006795 hypersplenism MONDO:0002332 NCIT:C34714 NCIT:C35823 splenic disorder -MONDO:0006797 hypertensive retinopathy MONDO:0005283 NCIT:C3514 NCIT:C62601 retinal disorder MONDO:0006801 ileal neoplasm MONDO:0004251 NCIT:C3130 NCIT:C4432 small intestine neoplasm -MONDO:0006802 inappropriate ADH syndrome MONDO:0045072 NCIT:C3988 NCIT:C4065 ectopic hormone secretion syndrome associated with neoplasia MONDO:0006804 inflammatory breast carcinoma MONDO:0004988 NCIT:C4001 NCIT:C5214 breast adenocarcinoma MONDO:0006804 inflammatory breast carcinoma MONDO:0006256 NCIT:C4001 NCIT:C9245 invasive breast carcinoma -MONDO:0006806 intermediate uveitis MONDO:0020283 NCIT:C35110 NCIT:C26909 uveitis MONDO:0006817 juxtacortical osteosarcoma MONDO:0002628 NCIT:C8969 NCIT:C7134 peripheral osteosarcoma -MONDO:0006827 lateral medullary syndrome MONDO:0002254 NCIT:C84807 NCIT:C28193 syndromic disease MONDO:0006834 lip cancer MONDO:0021249 NCIT:C7485 NCIT:C3191 lip neoplasm -MONDO:0006835 lipoid nephrosis MONDO:0002462 NCIT:C34844 NCIT:C26784 glomerulonephritis -MONDO:0006840 lymphangiectasis MONDO:0021658 NCIT:C97087 NCIT:C45481 vascular ectasia MONDO:0006841 lymphangioendothelioma MONDO:0002013 NCIT:C3203 NCIT:C8965 lymphangioma MONDO:0006842 lymphangiomyoma MONDO:0006359 NCIT:C3204 NCIT:C38150 neoplasm with perivascular epithelioid cell differentiation MONDO:0006850 maxillary sinus neoplasm MONDO:0005289 NCIT:C3219 NCIT:C7488 paranasal sinus neoplasm @@ -3685,589 +2855,102 @@ MONDO:0006853 mesenchymal chondrosarcoma MONDO:0008977 NCIT:C3737 NCIT:C2946 cho MONDO:0006859 mucinous cystadenoma MONDO:0002369 NCIT:C2973 NCIT:C2972 cystadenoma MONDO:0006859 mucinous cystadenoma MONDO:0024338 NCIT:C2973 NCIT:C7070 mucinous neoplasm MONDO:0006863 myxosarcoma MONDO:0018078 NCIT:C3255 NCIT:C9306 soft tissue sarcoma -MONDO:0006865 necrotizing ulcerative gingivitis MONDO:0002508 NCIT:C34637 NCIT:C34636 gingivitis -MONDO:0006869 nodular goiter MONDO:0005397 NCIT:C131437 NCIT:C26785 goiter -MONDO:0006873 nutritional deficiency disease MONDO:0005137 NCIT:C3669 NCIT:C26836 nutritional disorder -MONDO:0006881 orbital cellulitis MONDO:0005230 NCIT:C99000 NCIT:C26715 cellulitis MONDO:0006883 malignant superior sulcus neoplasm MONDO:0008903 NCIT:C7527 NCIT:C7377 lung cancer MONDO:0006883 malignant superior sulcus neoplasm MONDO:0024813 NCIT:C7527 NCIT:C27710 pulmonary sulcus neoplasm -MONDO:0006888 paraneoplastic polyneuropathy MONDO:0001824 NCIT:C3981 NCIT:C26951 polyneuropathy +MONDO:0006890 parathyroid gland adenoma MONDO:0004972 NCIT:C156757 NCIT:C2855 adenoma MONDO:0006890 parathyroid gland adenoma MONDO:0021463 NCIT:C156757 NCIT:C3630 benign neoplasm of parathyroid gland MONDO:0006895 penile neoplasm MONDO:0002036 NCIT:C3317 NCIT:C26846 penile disorder MONDO:0006895 penile neoplasm MONDO:0024582 NCIT:C3317 NCIT:C3054 male reproductive system neoplasm MONDO:0006907 pilar sheath acanthoma MONDO:0002093 NCIT:C4468 NCIT:C7419 acanthoma -MONDO:0006920 prediabetes syndrome MONDO:0002908 NCIT:C122685 NCIT:C53655 glucose metabolism disease -MONDO:0006926 haemophilus infectious disease MONDO:0005113 NCIT:C34654 NCIT:C2890 bacterial infectious disease -MONDO:0006930 pseudobulbar palsy MONDO:0003569 NCIT:C129934 NCIT:C26733 cranial nerve neuropathy -MONDO:0006932 pulmonary edema MONDO:0001208 NCIT:C26868 NCIT:C27043 acute respiratory failure -MONDO:0006939 pyelonephritis MONDO:0005247 NCIT:C34965 NCIT:C50791 bacterial urinary tract infection -MONDO:0006948 retinal artery occlusion MONDO:0002089 NCIT:C34978 NCIT:C34980 retinal vascular occlusion -MONDO:0006951 retinal vein occlusion MONDO:0002089 NCIT:C34981 NCIT:C34980 retinal vascular occlusion -MONDO:0006952 retinopathy of prematurity MONDO:0005283 NCIT:C34982 NCIT:C62601 retinal disorder -MONDO:0006956 Rickettsiosis MONDO:0005113 NCIT:C34991 NCIT:C2890 bacterial infectious disease MONDO:0006962 sebaceous adenocarcinoma MONDO:0004970 NCIT:C40310 NCIT:C2852 adenocarcinoma MONDO:0006962 sebaceous adenocarcinoma MONDO:0006973 NCIT:C40310 NCIT:C3775 skin appendage carcinoma MONDO:0006962 sebaceous adenocarcinoma MONDO:0037735 NCIT:C40310 NCIT:C8409 sebaceous gland cancer MONDO:0006963 sebaceous gland neoplasm MONDO:0002297 NCIT:C3363 NCIT:C4463 epidermal appendage tumor -MONDO:0006964 secondary hyperparathyroidism MONDO:0001741 NCIT:C113335 NCIT:C48259 hyperparathyroidism MONDO:0006973 skin appendage carcinoma MONDO:0002656 NCIT:C3775 NCIT:C4914 skin carcinoma MONDO:0006974 small cell sarcoma MONDO:0005089 NCIT:C3746 NCIT:C9118 sarcoma MONDO:0006975 smooth muscle tumor MONDO:0021545 NCIT:C3751 NCIT:C4063 myomatous neoplasm MONDO:0006980 struma ovarii MONDO:0002372 NCIT:C7468 NCIT:C8113 ovarian monodermal and highly specialized teratoma -MONDO:0006983 subclavian steal syndrome MONDO:0002254 NCIT:C35044 NCIT:C28193 syndromic disease -MONDO:0006994 tarsal tunnel syndrome MONDO:0002254 NCIT:C85183 NCIT:C28193 syndromic disease -MONDO:0006995 tethered spinal cord syndrome MONDO:0002254 NCIT:C99080 NCIT:C28193 syndromic disease -MONDO:0006996 thyroid crisis MONDO:0004425 NCIT:C112836 NCIT:C3123 hyperthyroidism MONDO:0006998 tonsil cancer MONDO:0021250 NCIT:C7404 NCIT:C3417 tonsil neoplasm -MONDO:0007002 trochlear nerve disorder MONDO:0003569 NCIT:C78395 NCIT:C26733 cranial nerve neuropathy -MONDO:0007004 type III hypersensitivity disease MONDO:0000605 NCIT:C114346 NCIT:C3114 hypersensitivity reaction disease -MONDO:0007015 viral meningitis MONDO:0004796 NCIT:C118298 NCIT:C79598 infectious meningitis -MONDO:0007016 vitamin A deficiency MONDO:0024298 NCIT:C85220 NCIT:C35772 vitamin deficiency disorder -MONDO:0007023 Yersinia infectious disease MONDO:0005113 NCIT:C128337 NCIT:C2890 bacterial infectious disease -MONDO:0007027 metabolic dysfunction-associated steatohepatitis MONDO:0002251 NCIT:C84445 NCIT:C3095 hepatitis -MONDO:0007027 metabolic dysfunction-associated steatohepatitis MONDO:0013209 NCIT:C84445 NCIT:C84444 metabolic dysfunction-associated steatotic liver disease -MONDO:0007029 branchio-oto-renal syndrome MONDO:0002254 NCIT:C98983 NCIT:C28193 syndromic disease -MONDO:0007032 prune belly syndrome MONDO:0002254 NCIT:C85033 NCIT:C28193 syndromic disease MONDO:0007033 abducens nerve palsy MONDO:0002782 NCIT:C27592 NCIT:C26941 cranial nerve palsy MONDO:0007033 abducens nerve palsy MONDO:0020594 NCIT:C27592 NCIT:C27593 abducens nerve disorder -MONDO:0007035 acanthosis nigricans MONDO:0002406 NCIT:C26687 NCIT:C2983 dermatitis -MONDO:0007036 Achard syndrome MONDO:0002254 NCIT:C35809 NCIT:C28193 syndromic disease -MONDO:0007039 neurofibromatosis type 2 MONDO:0021061 NCIT:C3274 NCIT:C6727 neurofibromatosis -MONDO:0007041 Apert syndrome MONDO:0019796 NCIT:C99099 NCIT:C34348 acrocephalosyndactyly -MONDO:0007042 Saethre-Chotzen syndrome MONDO:0019796 NCIT:C75034 NCIT:C34348 acrocephalosyndactyly MONDO:0007108 anal canal carcinoma MONDO:0003199 NCIT:C7489 NCIT:C9291 anal carcinoma -MONDO:0007110 Diamond-Blackfan anemia 1 MONDO:0015253 NCIT:C176911 NCIT:C61236 Diamond-Blackfan anemia -MONDO:0007113 Angelman syndrome MONDO:0002254 NCIT:C75462 NCIT:C28193 syndromic disease -MONDO:0007127 diffuse idiopathic skeletal hyperostosis MONDO:0002185 NCIT:C84671 NCIT:C34712 hyperostosis -MONDO:0007142 Townes-Brocks syndrome MONDO:0002254 NCIT:C99085 NCIT:C28193 syndromic disease -MONDO:0007147 obstructive sleep apnea syndrome MONDO:0002254 NCIT:C27168 NCIT:C28193 syndromic disease -MONDO:0007154 arteriovenous malformations of the brain MONDO:0001256 NCIT:C2936 NCIT:C2882 arteriovenous hemangioma/malformation -MONDO:0007160 Stickler syndrome type 1 MONDO:0019354 NCIT:C168733 NCIT:C74984 Stickler syndrome -MONDO:0007179 autoimmune disease MONDO:0005046 NCIT:C2889 NCIT:C3507 immune system disorder -MONDO:0007187 nevoid basal cell carcinoma syndrome MONDO:0042983 NCIT:C2892 NCIT:C84348 neurocutaneous syndrome -MONDO:0007191 Behcet disease MONDO:0002254 NCIT:C34416 NCIT:C28193 syndromic disease -MONDO:0007240 progressive familial heart block, type 1A MONDO:0007263 NCIT:C126651 NCIT:C2881 cardiac rhythm disease MONDO:0007243 Burkitt lymphoma MONDO:0017595 NCIT:C2912 NCIT:C178541 aggressive B-cell non-Hodgkin lymphoma -MONDO:0007244 Caffey disease MONDO:0002185 NCIT:C118423 NCIT:C34712 hyperostosis MONDO:0007254 breast cancer MONDO:0021100 NCIT:C9335 NCIT:C2910 breast neoplasm MONDO:0007256 hepatocellular carcinoma MONDO:0004970 NCIT:C3099 NCIT:C2852 adenocarcinoma MONDO:0007256 hepatocellular carcinoma MONDO:0018531 NCIT:C3099 NCIT:C7927 carcinoma of liver and intrahepatic biliary tract -MONDO:0007266 hypertrophic cardiomyopathy 2 MONDO:0024573 NCIT:C142892 NCIT:C84773 familial hypertrophic cardiomyopathy -MONDO:0007268 hypertrophic cardiomyopathy 4 MONDO:0024573 NCIT:C133725 NCIT:C84773 familial hypertrophic cardiomyopathy -MONDO:0007276 cat-eye syndrome MONDO:0002254 NCIT:C75477 NCIT:C28193 syndromic disease -MONDO:0007293 leukocyte adhesion deficiency 1 MONDO:0017570 NCIT:C4689 NCIT:C27874 leukocyte adhesion deficiency -MONDO:0007294 central core myopathy MONDO:0018943 NCIT:C83010 NCIT:C83009 myofibrillar myopathy -MONDO:0007315 cherubism MONDO:0015356 NCIT:C84630 NCIT:C3266 hereditary neoplastic syndrome -MONDO:0007318 Alagille syndrome MONDO:0002254 NCIT:C35139 NCIT:C28193 syndromic disease -MONDO:0007329 cirrhosis, familial MONDO:0005155 NCIT:C84411 NCIT:C2951 cirrhosis of liver -MONDO:0007340 cleidocranial dysplasia 1 MONDO:0002254 NCIT:C75020 NCIT:C28193 syndromic disease -MONDO:0007352 renal coloboma syndrome MONDO:0002254 NCIT:C123230 NCIT:C28193 syndromic disease -MONDO:0007363 congenital contractural arachnodactyly MONDO:0008779 NCIT:C129865 NCIT:C84572 arthrogryposis -MONDO:0007404 Cri-du-chat syndrome MONDO:0002254 NCIT:C34518 NCIT:C28193 syndromic disease -MONDO:0007446 dermatosis papulosa nigra MONDO:0002406 NCIT:C2984 NCIT:C2983 dermatitis -MONDO:0007450 neurohypophyseal diabetes insipidus MONDO:0004782 NCIT:C84933 NCIT:C43263 diabetes insipidus -MONDO:0007452 maturity-onset diabetes of the young type 1 MONDO:0018911 NCIT:C129744 NCIT:C114769 maturity-onset diabetes of the young -MONDO:0007453 maturity-onset diabetes of the young type 2 MONDO:0018911 NCIT:C129741 NCIT:C114769 maturity-onset diabetes of the young -MONDO:0007473 Duane retraction syndrome MONDO:0002254 NCIT:C84678 NCIT:C28193 syndromic disease -MONDO:0007485 dyskeratosis congenita, autosomal dominant 1 MONDO:0015780 NCIT:C176921 NCIT:C111802 dyskeratosis congenita -MONDO:0007486 hereditary benign intraepithelial dyskeratosis MONDO:0002254 NCIT:C3940 NCIT:C28193 syndromic disease -MONDO:0007523 Ehlers-Danlos syndrome, hypermobility type MONDO:0020066 NCIT:C125698 NCIT:C34568 Ehlers-Danlos syndrome -MONDO:0007525 Ehlers-Danlos syndrome, arthrochalasis type MONDO:0020066 NCIT:C125701 NCIT:C34568 Ehlers-Danlos syndrome -MONDO:0007534 Beckwith-Wiedemann syndrome MONDO:0015356 NCIT:C34415 NCIT:C3266 hereditary neoplastic syndrome -MONDO:0007536 congenital lobar emphysema MONDO:0004849 NCIT:C98895 NCIT:C3348 pulmonary emphysema MONDO:0007540 multiple endocrine neoplasia type 1 MONDO:0017169 NCIT:C3225 NCIT:C6432 multiple endocrine neoplasia -MONDO:0007542 Camurati-Engelmann disease MONDO:0002254 NCIT:C84610 NCIT:C28193 syndromic disease -MONDO:0007566 multiple self-healing squamous epithelioma MONDO:0015356 NCIT:C4461 NCIT:C3266 hereditary neoplastic syndrome -MONDO:0007571 primary erythermalgia MONDO:0016028 NCIT:C125383 NCIT:C34593 erythromelalgia MONDO:0007576 esophageal cancer MONDO:0002516 NCIT:C7478 NCIT:C4890 digestive system cancer MONDO:0007576 esophageal cancer MONDO:0021355 NCIT:C7478 NCIT:C3028 neoplasm of esophagus -MONDO:0007603 Felty syndrome MONDO:0002254 NCIT:C84712 NCIT:C28193 syndromic disease -MONDO:0007606 fibrodysplasia ossificans progressiva MONDO:0003847 NCIT:C3040 NCIT:C3101 hereditary disease MONDO:0007608 desmoid tumor MONDO:0005031 NCIT:C9182 NCIT:C3042 fibromatosis -MONDO:0007631 chromosome 16p12.1 deletion syndrome, 520kb MONDO:0002254 NCIT:C129875 NCIT:C28193 syndromic disease -MONDO:0007635 Frasier syndrome MONDO:0002254 NCIT:C122805 NCIT:C28193 syndromic disease MONDO:0007648 hereditary diffuse gastric adenocarcinoma MONDO:0005017 NCIT:C43295 NCIT:C9159 diffuse gastric adenocarcinoma MONDO:0007650 MALT lymphoma MONDO:0017604 NCIT:C3898 NCIT:C4341 marginal zone lymphoma -MONDO:0007652 gastric mucosal hypertrophy MONDO:0004966 NCIT:C67277 NCIT:C26780 gastritis -MONDO:0007656 Gerstmann-Straussler-Scheinker syndrome MONDO:0005429 NCIT:C84727 NCIT:C128346 prion disease -MONDO:0007661 Tourette syndrome MONDO:0002254 NCIT:C35078 NCIT:C28193 syndromic disease -MONDO:0007661 Tourette syndrome MONDO:0005395 NCIT:C35078 NCIT:C116757 movement disorder -MONDO:0007669 renal cysts and diabetes syndrome MONDO:0002254 NCIT:C123018 NCIT:C28193 syndromic disease -MONDO:0007686 gray platelet syndrome MONDO:0002254 NCIT:C84741 NCIT:C28193 syndromic disease -MONDO:0007710 facial hemiatrophy MONDO:0002254 NCIT:C116916 NCIT:C28193 syndromic disease -MONDO:0007734 holoprosencephaly 4 MONDO:0016296 NCIT:C75475 NCIT:C74988 holoprosencephaly -MONDO:0007741 congenital hydronephrosis MONDO:0005510 NCIT:C102979 NCIT:C26796 hydronephrosis -MONDO:0007745 Gilbert syndrome MONDO:0002254 NCIT:C84729 NCIT:C28193 syndromic disease -MONDO:0007745 Gilbert syndrome MONDO:0002408 NCIT:C84729 NCIT:C84761 hereditary hyperbilirubinemia -MONDO:0007790 Charcot-Marie-Tooth disease type 3 MONDO:0015626 NCIT:C133087 NCIT:C75467 Charcot-Marie-Tooth disease -MONDO:0007793 hypochondroplasia MONDO:0005516 NCIT:C118697 NCIT:C84978 osteochondrodysplasia -MONDO:0007797 hypoparathyroidism-deafness-renal disease syndrome MONDO:0002254 NCIT:C130983 NCIT:C28193 syndromic disease -MONDO:0007800 chromosome 18p deletion syndrome MONDO:0002254 NCIT:C84521 NCIT:C28193 syndromic disease -MONDO:0007804 Pallister-Hall syndrome MONDO:0002254 NCIT:C84987 NCIT:C28193 syndromic disease -MONDO:0007818 hyper-IgE recurrent infection syndrome 1, autosomal dominant MONDO:0018037 NCIT:C126342 NCIT:C3144 hyper-IgE syndrome -MONDO:0007827 inclusion body myositis MONDO:0021167 NCIT:C84786 NCIT:C27578 myositis disease -MONDO:0007838 Jacobsen syndrome MONDO:0002254 NCIT:C75457 NCIT:C28193 syndromic disease -MONDO:0007863 Kleine-Levin syndrome MONDO:0002254 NCIT:C84800 NCIT:C28193 syndromic disease -MONDO:0007864 angioosteohypertrophic syndrome MONDO:0002254 NCIT:C84801 NCIT:C28193 syndromic disease MONDO:0007886 uterine corpus leiomyoma MONDO:0001572 NCIT:C3434 NCIT:C3157 leiomyoma MONDO:0007886 uterine corpus leiomyoma MONDO:0021525 NCIT:C3434 NCIT:C3608 benign neoplasm of corpus uteri MONDO:0007888 hereditary leiomyomatosis and renal cell cancer MONDO:0015356 NCIT:C51302 NCIT:C3266 hereditary neoplastic syndrome -MONDO:0007899 lichen sclerosus et atrophicus MONDO:0002406 NCIT:C26817 NCIT:C2983 dermatitis MONDO:0007908 multiple symmetric lipomatosis MONDO:0006574 NCIT:C4392 NCIT:C3193 lipomatosis -MONDO:0007915 systemic lupus erythematosus MONDO:0004670 NCIT:C3201 NCIT:C27153 lupus erythematosus -MONDO:0007921 yellow nail syndrome MONDO:0002254 NCIT:C85238 NCIT:C28193 syndromic disease -MONDO:0007922 lymphedema-distichiasis syndrome MONDO:0002254 NCIT:C128191 NCIT:C28193 syndromic disease -MONDO:0007924 Bannayan-Riley-Ruvalcaba syndrome MONDO:0017623 NCIT:C3939 NCIT:C179915 PTEN hamartoma tumor syndrome -MONDO:0007925 myelodysplastic syndrome associated with isolated del(5q) MONDO:0018881 NCIT:C6867 NCIT:C3247 myelodysplastic syndrome -MONDO:0007935 cystoid macular edema MONDO:0003005 NCIT:C34794 NCIT:C35468 macular retinal edema -MONDO:0007947 Marfan syndrome MONDO:0002254 NCIT:C34807 NCIT:C28193 syndromic disease MONDO:0007950 mastocytosis MONDO:0002724 NCIT:C84269 NCIT:C9295 mast cell neoplasm -MONDO:0007969 Melkersson-Rosenthal syndrome MONDO:0002254 NCIT:C84886 NCIT:C28193 syndromic disease -MONDO:0007999 holoprosencephaly 2 MONDO:0016296 NCIT:C74995 NCIT:C74988 holoprosencephaly -MONDO:0008006 Mobius syndrome MONDO:0002254 NCIT:C84893 NCIT:C28193 syndromic disease -MONDO:0008030 facioscapulohumeral muscular dystrophy 1 MONDO:0001347 NCIT:C172704 NCIT:C84704 facioscapulohumeral muscular dystrophy -MONDO:0008031 facioscapulohumeral muscular dystrophy 2 MONDO:0001347 NCIT:C172705 NCIT:C84704 facioscapulohumeral muscular dystrophy -MONDO:0008048 autosomal dominant centronuclear myopathy MONDO:0002921 NCIT:C126689 NCIT:C84648 congenital structural myopathy -MONDO:0008054 juvenile dermatomyositis MONDO:0016367 NCIT:C27576 NCIT:C26744 dermatomyositis -MONDO:0008056 myotonic dystrophy type 1 MONDO:0016107 NCIT:C84679 NCIT:C84914 myotonic dystrophy -MONDO:0008061 nail-patella syndrome MONDO:0002254 NCIT:C75120 NCIT:C28193 syndromic disease MONDO:0008075 schwannomatosis MONDO:0002546 NCIT:C6557 NCIT:C3269 schwannoma MONDO:0008082 multiple endocrine neoplasia type 2B MONDO:0019003 NCIT:C3227 NCIT:C123329 multiple endocrine neoplasia type 2 -MONDO:0008094 familial multiple nevi flammei MONDO:0021658 NCIT:C3840 NCIT:C45481 vascular ectasia -MONDO:0008095 nevus anemicus MONDO:0021658 NCIT:C3943 NCIT:C45481 vascular ectasia -MONDO:0008097 linear nevus sebaceous syndrome MONDO:0006499 NCIT:C4678 NCIT:C3075 hamartoma -MONDO:0008104 Noonan syndrome 1 MONDO:0018997 NCIT:C75459 NCIT:C34854 Noonan syndrome -MONDO:0008109 ocular cicatricial pemphigoid MONDO:0018746 NCIT:C84939 NCIT:C34907 mucous membrane pemphigoid -MONDO:0008114 obsessive-compulsive disorder MONDO:0005618 NCIT:C88411 NCIT:C2878 anxiety disorder MONDO:0008167 dermoid cyst of ovary MONDO:0002378 NCIT:C3856 NCIT:C9011 dermoid cyst MONDO:0008167 dermoid cyst of ovary MONDO:0003281 NCIT:C3856 NCIT:C7283 ovarian cystic teratoma MONDO:0008168 ovarian fibroma MONDO:0005167 NCIT:C3498 NCIT:C3041 fibroma MONDO:0008170 ovarian cancer MONDO:0001416 NCIT:C7431 NCIT:C4913 female reproductive organ cancer MONDO:0008170 ovarian cancer MONDO:0021068 NCIT:C7431 NCIT:C4984 ovarian neoplasm -MONDO:0008171 nephrolithiasis MONDO:0024647 NCIT:C114667 NCIT:C114688 urolithiasis MONDO:0008177 extramammary Paget disease MONDO:0021165 NCIT:C3302 NCIT:C7073 Paget disease -MONDO:0008218 Hailey-Hailey disease MONDO:0006594 NCIT:C82865 NCIT:C34909 pemphigus -MONDO:0008219 pemphigus vulgaris MONDO:0006594 NCIT:C34910 NCIT:C34909 pemphigus -MONDO:0008228 pernicious anemia MONDO:0001700 NCIT:C2871 NCIT:C34382 megaloblastic anemia MONDO:0008234 multiple endocrine neoplasia type 2A MONDO:0019003 NCIT:C3226 NCIT:C123329 multiple endocrine neoplasia type 2 -MONDO:0008262 Poland syndrome MONDO:0002254 NCIT:C85017 NCIT:C28193 syndromic disease MONDO:0008274 polyostotic fibrous dysplasia MONDO:0000845 NCIT:C34610 NCIT:C34609 fibrous dysplasia -MONDO:0008277 stomach polyp MONDO:0004298 NCIT:C3954 NCIT:C26886 stomach disorder -MONDO:0008287 Greig cephalopolysyndactyly syndrome MONDO:0002254 NCIT:C35255 NCIT:C28193 syndromic disease -MONDO:0008294 acute intermittent porphyria MONDO:0019142 NCIT:C84536 NCIT:C97096 inherited porphyria -MONDO:0008297 variegate porphyria MONDO:0019142 NCIT:C85219 NCIT:C97096 inherited porphyria -MONDO:0008300 Prader-Willi syndrome MONDO:0002254 NCIT:C75463 NCIT:C28193 syndromic disease -MONDO:0008310 Hutchinson-Gilford progeria syndrome MONDO:0002254 NCIT:C34951 NCIT:C28193 syndromic disease MONDO:0008315 prostate cancer MONDO:0005836 NCIT:C7378 NCIT:C8561 male reproductive organ cancer MONDO:0008315 prostate cancer MONDO:0021259 NCIT:C7378 NCIT:C3343 prostate neoplasm -MONDO:0008323 Liddle syndrome MONDO:0002254 NCIT:C84827 NCIT:C28193 syndromic disease -MONDO:0008327 exfoliation syndrome MONDO:0002254 NCIT:C129025 NCIT:C28193 syndromic disease -MONDO:0008340 ptosis, hereditary congenital, 1 MONDO:0000728 NCIT:C27049 NCIT:C27298 ptosis -MONDO:0008383 rheumatoid arthritis MONDO:0005554 NCIT:C2884 NCIT:C27204 rheumatic disorder -MONDO:0008383 rheumatoid arthritis MONDO:0005578 NCIT:C2884 NCIT:C2883 arthritic joint disease -MONDO:0008386 Axenfeld-Rieger syndrome type 1 MONDO:0019187 NCIT:C75015 NCIT:C131001 Axenfeld-Rieger syndrome -MONDO:0008393 Rubinstein-Taybi syndrome due to CREBBP mutations MONDO:0019188 NCIT:C153290 NCIT:C75466 Rubinstein-Taybi syndrome -MONDO:0008394 Silver-Russell syndrome MONDO:0002254 NCIT:C85068 NCIT:C28193 syndromic disease MONDO:0008401 pleomorphic adenoma MONDO:0021043 NCIT:C8602 NCIT:C6930 mixed neoplasm -MONDO:0008428 septooptic dysplasia MONDO:0002254 NCIT:C85063 NCIT:C28193 syndromic disease MONDO:0008433 small cell lung carcinoma MONDO:0000402 NCIT:C4917 NCIT:C3915 small cell carcinoma -MONDO:0008437 hereditary spastic paraplegia 3A MONDO:0019064 NCIT:C142893 NCIT:C140267 hereditary spastic paraplegia -MONDO:0008438 hereditary spastic paraplegia 4 MONDO:0019064 NCIT:C129981 NCIT:C140267 hereditary spastic paraplegia -MONDO:0008449 spina bifida MONDO:0002320 NCIT:C101214 NCIT:C97172 congenital nervous system disorder -MONDO:0008450 spinal arachnoiditis MONDO:0015304 NCIT:C50749 NCIT:C37913 arachnoiditis -MONDO:0008451 neuronopathy, distal hereditary motor, autosomal dominant 1 MONDO:0015626 NCIT:C132826 NCIT:C75467 Charcot-Marie-Tooth disease -MONDO:0008464 split hand-foot malformation 1 MONDO:0016576 NCIT:C75045 NCIT:C75000 split hand-foot malformation -MONDO:0008487 polycystic ovary syndrome MONDO:0002254 NCIT:C26862 NCIT:C28193 syndromic disease -MONDO:0008491 stiff-person syndrome MONDO:0002254 NCIT:C85170 NCIT:C28193 syndromic disease -MONDO:0008501 Sturge-Weber syndrome MONDO:0042983 NCIT:C3391 NCIT:C84348 neurocutaneous syndrome -MONDO:0008523 Blau syndrome MONDO:0007179 NCIT:C116794 NCIT:C2889 autoimmune disease -MONDO:0008538 temporal arteritis MONDO:0002341 NCIT:C35065 NCIT:C34653 granulomatous angiitis -MONDO:0008542 tetralogy of fallot MONDO:0005453 NCIT:C84505 NCIT:C95834 congenital heart disease -MONDO:0008546 thanatophoric dysplasia type 1 MONDO:0017042 NCIT:C98583 NCIT:C85187 thanatophoric dysplasia -MONDO:0008547 thanatophoric dysplasia type 2 MONDO:0017042 NCIT:C98584 NCIT:C85187 thanatophoric dysplasia -MONDO:0008558 autoimmune thrombocytopenic purpura MONDO:0043768 NCIT:C3446 NCIT:C26870 thrombocytopenic purpura -MONDO:0008564 DiGeorge syndrome MONDO:0001222 NCIT:C2989 NCIT:C27872 congenital T-cell immunodeficiency -MONDO:0008575 nicotine dependence MONDO:0005303 NCIT:C54203 NCIT:C3894 drug dependence MONDO:0008583 inherited torticollis MONDO:0005031 NCIT:C4811 NCIT:C3042 fibromatosis -MONDO:0008585 HELLP syndrome MONDO:0002254 NCIT:C84750 NCIT:C28193 syndromic disease -MONDO:0008612 tuberous sclerosis 1 MONDO:0001734 NCIT:C75122 NCIT:C3424 tuberous sclerosis -MONDO:0008627 ureter cancer MONDO:0006295 NCIT:C7543 NCIT:C9297 malignant urinary system neoplasm MONDO:0008627 ureter cancer MONDO:0021111 NCIT:C7543 NCIT:C3427 ureter neoplasm -MONDO:0008642 VACTERL/vater association MONDO:0002254 NCIT:C99105 NCIT:C28193 syndromic disease -MONDO:0008661 vitiligo MONDO:0002406 NCIT:C26915 NCIT:C2983 dermatitis -MONDO:0008667 von Hippel-Lindau disease MONDO:0042983 NCIT:C3105 NCIT:C84348 neurocutaneous syndrome -MONDO:0008670 Waardenburg syndrome type 1 MONDO:0018094 NCIT:C75008 NCIT:C85222 Waardenburg syndrome -MONDO:0008671 Waardenburg syndrome type 2A MONDO:0019517 NCIT:C75011 NCIT:C75009 Waardenburg syndrome type 2 -MONDO:0008675 Freeman-Sheldon syndrome MONDO:0002254 NCIT:C98931 NCIT:C28193 syndromic disease -MONDO:0008675 Freeman-Sheldon syndrome MONDO:0008779 NCIT:C98931 NCIT:C84572 arthrogryposis -MONDO:0008678 Williams syndrome MONDO:0002254 NCIT:C85232 NCIT:C28193 syndromic disease -MONDO:0008681 WAGR syndrome MONDO:0015356 NCIT:C3718 NCIT:C3266 hereditary neoplastic syndrome -MONDO:0008684 Wolf-Hirschhorn syndrome MONDO:0002254 NCIT:C35528 NCIT:C28193 syndromic disease -MONDO:0008703 acromesomelic dysplasia 2A MONDO:0019648 NCIT:C3816 NCIT:C84527 achondrogenesis -MONDO:0008708 acrocallosal syndrome MONDO:0002254 NCIT:C84531 NCIT:C28193 syndromic disease -MONDO:0008742 autosomal dominant severe congenital neutropenia MONDO:0018542 NCIT:C166155 NCIT:C166152 severe congenital neutropenia -MONDO:0008752 Alexander disease MONDO:0019046 NCIT:C84545 NCIT:C61253 leukodystrophy -MONDO:0008758 mitochondrial DNA depletion syndrome 4a MONDO:0002254 NCIT:C35257 NCIT:C28193 syndromic disease -MONDO:0008763 Alstrom syndrome MONDO:0002254 NCIT:C84549 NCIT:C28193 syndromic disease -MONDO:0008840 ataxia telangiectasia MONDO:0015131 NCIT:C2887 NCIT:C27871 combined immunodeficiency -MONDO:0008867 biliary atresia MONDO:0006322 NCIT:C34421 NCIT:C35774 non-neoplastic bile duct disorder -MONDO:0008889 thromboangiitis obliterans MONDO:0005294 NCIT:C35070 NCIT:C35136 peripheral vascular disease -MONDO:0008890 progressive bulbar palsy MONDO:0002782 NCIT:C85026 NCIT:C26941 cranial nerve palsy MONDO:0008903 lung cancer MONDO:0003274 NCIT:C7377 NCIT:C3576 thoracic cancer MONDO:0008903 lung cancer MONDO:0021117 NCIT:C7377 NCIT:C3200 lung neoplasm -MONDO:0008939 isolated cerebellar hypoplasia/agenesis MONDO:0002320 NCIT:C98890 NCIT:C97172 congenital nervous system disorder -MONDO:0008955 cerebrooculofacioskeletal syndrome 1 MONDO:0008926 NCIT:C173085 NCIT:C3817 COFS syndrome -MONDO:0008965 CHARGE syndrome MONDO:0002254 NCIT:C75100 NCIT:C28193 syndromic disease -MONDO:0008966 Aagenaes syndrome MONDO:0002254 NCIT:C35709 NCIT:C28193 syndromic disease MONDO:0008977 chondrosarcoma MONDO:0005089 NCIT:C2946 NCIT:C9118 sarcoma MONDO:0008978 chordoma MONDO:0002597 NCIT:C2947 NCIT:C7063 notochordal tumor -MONDO:0008988 citrullinemia type I MONDO:0015991 NCIT:C150601 NCIT:C84639 citrullinemia -MONDO:0009003 achromatopsia 2 MONDO:0018852 NCIT:C168757 NCIT:C84528 achromatopsia -MONDO:0009016 band keratopathy MONDO:0002261 NCIT:C118765 NCIT:C27012 keratopathy -MONDO:0009022 corpus callosum, agenesis of MONDO:0002320 NCIT:C98905 NCIT:C97172 congenital nervous system disorder -MONDO:0009031 craniodiaphyseal dysplasia MONDO:0002185 NCIT:C131429 NCIT:C34712 hyperostosis -MONDO:0009044 Crigler-Najjar syndrome MONDO:0002254 NCIT:C84656 NCIT:C28193 syndromic disease -MONDO:0009044 Crigler-Najjar syndrome MONDO:0002408 NCIT:C84656 NCIT:C84761 hereditary hyperbilirubinemia -MONDO:0009046 Fraser syndrome MONDO:0002254 NCIT:C118436 NCIT:C28193 syndromic disease -MONDO:0009106 diastematomyelia MONDO:0002320 NCIT:C98913 NCIT:C97172 congenital nervous system disorder -MONDO:0009113 hemolytic anemia due to diphosphoglycerate mutase deficiency MONDO:0019052 NCIT:C131638 NCIT:C34816 inborn errors of metabolism -MONDO:0009113 hemolytic anemia due to diphosphoglycerate mutase deficiency MONDO:0020585 NCIT:C131638 NCIT:C131630 anemia due to erythrocyte enzyme disorder -MONDO:0009130 Dyggve-Melchior-Clausen disease MONDO:0002254 NCIT:C124844 NCIT:C28193 syndromic disease -MONDO:0009133 cerebellar ataxia, intellectual disability, and dysequilibrium MONDO:0002254 NCIT:C114781 NCIT:C28193 syndromic disease -MONDO:0009136 dyskeratosis congenita, autosomal recessive 1 MONDO:0015780 NCIT:C176925 NCIT:C111802 dyskeratosis congenita -MONDO:0009151 cleft lip/palate-ectodermal dysplasia syndrome MONDO:0019287 NCIT:C122656 NCIT:C84683 ectodermal dysplasia syndrome -MONDO:0009175 eosinophilic fasciitis MONDO:0004830 NCIT:C112116 NCIT:C50559 fasciitis -MONDO:0009192 Wolcott-Rallison syndrome MONDO:0002254 NCIT:C131007 NCIT:C28193 syndromic disease -MONDO:0009210 congenital factor V deficiency MONDO:0020586 NCIT:C98938 NCIT:C131738 factor V deficiency -MONDO:0009212 congenital factor X deficiency MONDO:0002247 NCIT:C98940 NCIT:C131632 factor X deficiency -MONDO:0009213 Fanconi anemia complementation group C MONDO:0019391 NCIT:C125704 NCIT:C62505 Fanconi anemia -MONDO:0009214 Fanconi anemia complementation group D2 MONDO:0019391 NCIT:C125706 NCIT:C62505 Fanconi anemia -MONDO:0009215 Fanconi anemia complementation group A MONDO:0019391 NCIT:C125702 NCIT:C62505 Fanconi anemia -MONDO:0009237 focal epithelial hyperplasia MONDO:0005043 NCIT:C97083 NCIT:C3113 hyperplasia -MONDO:0009253 Fryns syndrome MONDO:0002254 NCIT:C98932 NCIT:C28193 syndromic disease -MONDO:0009255 galactokinase deficiency MONDO:0018116 NCIT:C114767 NCIT:C84723 galactosemia -MONDO:0009276 Bernard-Soulier syndrome MONDO:0002254 NCIT:C84595 NCIT:C28193 syndromic disease -MONDO:0009290 glycogen storage disease II MONDO:0002412 NCIT:C84734 NCIT:C61272 disorder of glycogen metabolism -MONDO:0009291 glycogen storage disease III MONDO:0002412 NCIT:C84736 NCIT:C61272 disorder of glycogen metabolism -MONDO:0009292 glycogen storage disease due to glycogen branching enzyme deficiency MONDO:0002412 NCIT:C84737 NCIT:C61272 disorder of glycogen metabolism -MONDO:0009293 glycogen storage disease V MONDO:0002412 NCIT:C84738 NCIT:C61272 disorder of glycogen metabolism -MONDO:0009294 glycogen storage disease VI MONDO:0002412 NCIT:C126875 NCIT:C61272 disorder of glycogen metabolism -MONDO:0009295 glycogen storage disease VII MONDO:0002412 NCIT:C118437 NCIT:C61272 disorder of glycogen metabolism -MONDO:0009299 46 XX gonadal dysgenesis MONDO:0001967 NCIT:C120197 NCIT:C61420 gonadal dysgenesis -MONDO:0009303 anti-glomerular basement membrane disease MONDO:0007179 NCIT:C84566 NCIT:C2889 autoimmune disease -MONDO:0009315 congenital factor XII deficiency MONDO:0002242 NCIT:C131740 NCIT:C27215 coagulation protein disease MONDO:0009330 hemangiopericytoma, malignant MONDO:0005094 NCIT:C4301 NCIT:C3087 hemangiopericytoma MONDO:0009348 classic Hodgkin lymphoma MONDO:0004952 NCIT:C7164 NCIT:C9357 Hodgkins lymphoma -MONDO:0009349 holoprosencephaly 1 MONDO:0016296 NCIT:C75476 NCIT:C74988 holoprosencephaly -MONDO:0009369 non-immune hydrops fetalis MONDO:0015193 NCIT:C111905 NCIT:C84767 hydrops fetalis -MONDO:0009380 Dubin-Johnson syndrome MONDO:0002254 NCIT:C34741 NCIT:C28193 syndromic disease -MONDO:0009387 familial lipoprotein lipase deficiency MONDO:0037748 NCIT:C84771 NCIT:C34709 hyperlipoproteinemia -MONDO:0009393 ornithine translocase deficiency MONDO:0002254 NCIT:C129029 NCIT:C28193 syndromic disease -MONDO:0009394 juvenile Paget disease MONDO:0005382 NCIT:C131861 NCIT:C3292 bone Paget disease -MONDO:0009395 hyperostosis corticalis generalisata MONDO:0002185 NCIT:C131812 NCIT:C34712 hyperostosis -MONDO:0009411 autoimmune polyendocrine syndrome type 1 MONDO:0017278 NCIT:C129727 NCIT:C129726 autoimmune polyendocrinopathy -MONDO:0009412 scurvy MONDO:0024298 NCIT:C35010 NCIT:C35772 vitamin deficiency disorder -MONDO:0009426 hypoparathyroidism-retardation-dysmorphism syndrome MONDO:0002254 NCIT:C133727 NCIT:C28193 syndromic disease -MONDO:0009452 Vici syndrome MONDO:0002254 NCIT:C138174 NCIT:C28193 syndromic disease -MONDO:0009478 combined immunodeficiency due to DOCK8 deficiency MONDO:0018037 NCIT:C126343 NCIT:C3144 hyper-IgE syndrome -MONDO:0009499 Krabbe disease MONDO:0019046 NCIT:C61254 NCIT:C61253 leukodystrophy -MONDO:0009499 Krabbe disease MONDO:0019255 NCIT:C61254 NCIT:C117254 sphingolipidosis -MONDO:0009509 Landau-Kleffner syndrome MONDO:0002254 NCIT:C84806 NCIT:C28193 syndromic disease -MONDO:0009514 Laurence-Moon syndrome MONDO:0002254 NCIT:C34760 NCIT:C28193 syndromic disease -MONDO:0009517 Donohue syndrome MONDO:0002254 NCIT:C84676 NCIT:C28193 syndromic disease -MONDO:0009525 split hand-foot malformation 3 MONDO:0016576 NCIT:C75121 NCIT:C75000 split hand-foot malformation -MONDO:0009532 Miller-Dieker lissencephaly syndrome MONDO:0002254 NCIT:C124852 NCIT:C28193 syndromic disease -MONDO:0009537 lymphoid interstitial pneumonia MONDO:0002429 NCIT:C27558 NCIT:C35714 idiopathic interstitial pneumonia -MONDO:0009588 Langer mesomelic dysplasia MONDO:0023599 NCIT:C126876 NCIT:C121156 mesomelic dysplasia -MONDO:0009610 3-methylglutaconic aciduria type 1 MONDO:0017359 NCIT:C98683 NCIT:C98678 3-methylglutaconic aciduria -MONDO:0009612 methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency MONDO:0002012 NCIT:C148366 NCIT:C98986 methylmalonic acidemia -MONDO:0009623 Nijmegen breakage syndrome MONDO:0021190 NCIT:C4692 NCIT:C7757 DNA repair disease -MONDO:0009627 Galloway-Mowat syndrome MONDO:0002254 NCIT:C132195 NCIT:C28193 syndromic disease -MONDO:0009637 inborn mitochondrial myopathy MONDO:0002921 NCIT:C101328 NCIT:C84648 congenital structural myopathy -MONDO:0009655 mucopolysaccharidosis type 3A MONDO:0018937 NCIT:C84897 NCIT:C61262 mucopolysaccharidosis type 3 -MONDO:0009656 mucopolysaccharidosis type 3B MONDO:0018937 NCIT:C84898 NCIT:C61262 mucopolysaccharidosis type 3 -MONDO:0009657 mucopolysaccharidosis type 3C MONDO:0018937 NCIT:C84899 NCIT:C61262 mucopolysaccharidosis type 3 -MONDO:0009658 mucopolysaccharidosis type 3D MONDO:0018937 NCIT:C84900 NCIT:C61262 mucopolysaccharidosis type 3 -MONDO:0009659 mucopolysaccharidosis type 4A MONDO:0018938 NCIT:C84901 NCIT:C61263 mucopolysaccharidosis type 4 -MONDO:0009660 mucopolysaccharidosis type 4B MONDO:0018938 NCIT:C84902 NCIT:C61263 mucopolysaccharidosis type 4 -MONDO:0009661 mucopolysaccharidosis type 6 MONDO:0002254 NCIT:C61264 NCIT:C28193 syndromic disease -MONDO:0009661 mucopolysaccharidosis type 6 MONDO:0019249 NCIT:C61264 NCIT:C61259 mucopolysaccharidosis -MONDO:0009662 mucopolysaccharidosis type 7 MONDO:0019249 NCIT:C84903 NCIT:C61259 mucopolysaccharidosis -MONDO:0009664 mulibrey nanism MONDO:0002254 NCIT:C84906 NCIT:C28193 syndromic disease -MONDO:0009668 lethal multiple pterygium syndrome MONDO:0002254 NCIT:C101038 NCIT:C28193 syndromic disease -MONDO:0009689 congenital myasthenic syndrome 6 MONDO:0018940 NCIT:C132292 NCIT:C84647 congenital myasthenic syndrome MONDO:0009691 mycosis fungoides MONDO:0000607 NCIT:C3246 NCIT:C3467 primary cutaneous T-cell non-Hodgkin lymphoma -MONDO:0009692 primary myelofibrosis MONDO:0020076 NCIT:C2862 NCIT:C4345 myeloproliferative neoplasm MONDO:0009693 plasma cell myeloma MONDO:0004959 NCIT:C3242 NCIT:C4665 plasma cell neoplasm -MONDO:0009705 carnitine palmitoyl transferase 1A deficiency MONDO:0037858 NCIT:C98871 NCIT:C117115 inherited fatty acid metabolism disorder -MONDO:0009717 Schwartz-Jampel syndrome MONDO:0002254 NCIT:C35008 NCIT:C28193 syndromic disease -MONDO:0009718 myxedema MONDO:0005420 NCIT:C34834 NCIT:C26800 hypothyroidism -MONDO:0009728 nephronophthisis 1 MONDO:0019005 NCIT:C74998 NCIT:C123200 nephronophthisis -MONDO:0009733 nephrotic syndrome, type 4 MONDO:0002350 NCIT:C121198 NCIT:C35337 familial nephrotic syndrome -MONDO:0009735 Netherton syndrome MONDO:0002254 NCIT:C84922 NCIT:C28193 syndromic disease -MONDO:0009744 neuronal ceroid lipofuscinosis 1 MONDO:0016295 NCIT:C85861 NCIT:C61257 neuronal ceroid lipofuscinosis MONDO:0009755 neutrophil actin dysfunction MONDO:0005073 NCIT:C3694 NCIT:C7570 melanocytic nevus MONDO:0009761 cystic hygroma MONDO:0002013 NCIT:C3724 NCIT:C8965 lymphangioma MONDO:0009807 osteosarcoma MONDO:0005089 NCIT:C9145 NCIT:C9118 sarcoma MONDO:0009808 osteoid osteoma MONDO:0000631 NCIT:C3297 NCIT:C4880 bone benign neoplasm MONDO:0009808 osteoid osteoma MONDO:0045052 NCIT:C3297 NCIT:C6602 benign osteogenic neoplasm -MONDO:0009813 chronic recurrent multifocal osteomyelitis MONDO:0005246 NCIT:C119042 NCIT:C27577 osteomyelitis -MONDO:0009815 autosomal recessive osteopetrosis 1 MONDO:0019026 NCIT:C167215 NCIT:C129733 autosomal recessive osteopetrosis -MONDO:0009820 osteoporosis-pseudoglioma syndrome MONDO:0002254 NCIT:C130998 NCIT:C28193 syndromic disease -MONDO:0009823 primary hyperoxaluria type 1 MONDO:0002474 NCIT:C123212 NCIT:C123158 primary hyperoxaluria -MONDO:0009824 primary hyperoxaluria type 2 MONDO:0002474 NCIT:C123213 NCIT:C123158 primary hyperoxaluria MONDO:0009831 malignant pancreatic neoplasm MONDO:0002516 NCIT:C9005 NCIT:C4890 digestive system cancer MONDO:0009831 malignant pancreatic neoplasm MONDO:0021040 NCIT:C9005 NCIT:C3305 pancreatic neoplasm -MONDO:0009835 subacute sclerosing panencephalitis MONDO:0006009 NCIT:C85171 NCIT:C35302 viral encephalitis MONDO:0009837 choroid plexus papilloma MONDO:0002363 NCIT:C3698 NCIT:C7440 papilloma MONDO:0009837 choroid plexus papilloma MONDO:0044764 NCIT:C3698 NCIT:C8405 benign choroid plexus neoplasm -MONDO:0009838 Parana hard-skin syndrome MONDO:0002254 NCIT:C126559 NCIT:C28193 syndromic disease -MONDO:0009856 Peters plus syndrome MONDO:0002254 NCIT:C123436 NCIT:C28193 syndromic disease -MONDO:0009865 glycogen storage disease due to phosphoglycerate mutase deficiency MONDO:0002412 NCIT:C131647 NCIT:C61272 disorder of glycogen metabolism -MONDO:0009874 Rabson-Mendenhall syndrome MONDO:0002254 NCIT:C131000 NCIT:C28193 syndromic disease -MONDO:0009887 desquamative interstitial pneumonia MONDO:0002429 NCIT:C35288 NCIT:C35714 idiopathic interstitial pneumonia -MONDO:0009889 autosomal recessive polycystic kidney disease MONDO:0020642 NCIT:C84579 NCIT:C75464 polycystic kidney disease MONDO:0009891 acquired polycythemia vera MONDO:0005571 NCIT:C3336 NCIT:C26863 polycythemia MONDO:0009891 acquired polycythemia vera MONDO:0020703 NCIT:C3336 NCIT:C7064 erythroid neoplasm -MONDO:0009902 cutaneous porphyria MONDO:0019142 NCIT:C84697 NCIT:C97096 inherited porphyria -MONDO:0009904 Gitelman syndrome MONDO:0002254 NCIT:C84730 NCIT:C28193 syndromic disease -MONDO:0009921 holoprosencephaly-postaxial polydactyly syndrome MONDO:0002254 NCIT:C125418 NCIT:C28193 syndromic disease -MONDO:0009923 46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency MONDO:0002525 NCIT:C98699 NCIT:C97092 inherited lipid metabolism disorder -MONDO:0009926 autosomal recessive multiple pterygium syndrome MONDO:0002254 NCIT:C101039 NCIT:C28193 syndromic disease -MONDO:0009933 congenital pulmonary lymphangiectasia MONDO:0006840 NCIT:C99034 NCIT:C97087 lymphangiectasis -MONDO:0009953 leukocyte adhesion deficiency type II MONDO:0017570 NCIT:C4690 NCIT:C27874 leukocyte adhesion deficiency -MONDO:0009965 Perlman syndrome MONDO:0002254 NCIT:C103144 NCIT:C28193 syndromic disease -MONDO:0009990 Revesz syndrome MONDO:0015780 NCIT:C152064 NCIT:C111802 dyskeratosis congenita MONDO:0009993 embryonal rhabdomyosarcoma MONDO:0005212 NCIT:C8971 NCIT:C3359 rhabdomyosarcoma MONDO:0009994 alveolar rhabdomyosarcoma MONDO:0005212 NCIT:C3749 NCIT:C3359 rhabdomyosarcoma -MONDO:0010002 Rothmund-Thomson syndrome MONDO:0015356 NCIT:C3335 NCIT:C3266 hereditary neoplastic syndrome -MONDO:0010011 schizencephaly MONDO:0002320 NCIT:C99056 NCIT:C97172 congenital nervous system disorder -MONDO:0010012 autoimmune polyendocrinopathy type 2 MONDO:0017278 NCIT:C129728 NCIT:C129726 autoimmune polyendocrinopathy -MONDO:0010030 Sjogren syndrome MONDO:0002254 NCIT:C26883 NCIT:C28193 syndromic disease -MONDO:0010079 Canavan disease MONDO:0019046 NCIT:C84611 NCIT:C61253 leukodystrophy MONDO:0010108 testicular germ cell tumor MONDO:0021348 NCIT:C8591 NCIT:C3404 neoplasm of testis -MONDO:0010121 thrombocytopenia-absent radius syndrome MONDO:0002254 NCIT:C99038 NCIT:C28193 syndromic disease -MONDO:0010122 congenital thrombotic thrombocytopenic purpura MONDO:0018896 NCIT:C131657 NCIT:C78797 thrombotic thrombocytopenic purpura -MONDO:0010132 familial thyroid dyshormonogenesis MONDO:0018612 NCIT:C121751 NCIT:C26734 congenital hypothyroidism -MONDO:0010134 Pendred syndrome MONDO:0018612 NCIT:C121745 NCIT:C26734 congenital hypothyroidism -MONDO:0010140 isolated thyrotropin-releasing hormone deficiency MONDO:0016410 NCIT:C121741 NCIT:C113144 central congenital hypothyroidism MONDO:0010150 head and neck squamous cell carcinoma MONDO:0002038 NCIT:C34447 NCIT:C35850 head and neck carcinoma MONDO:0010150 head and neck squamous cell carcinoma MONDO:0005096 NCIT:C34447 NCIT:C2929 squamous cell carcinoma -MONDO:0010159 mismatch repair cancer syndrome 1 MONDO:0015356 NCIT:C130202 NCIT:C3266 hereditary neoplastic syndrome -MONDO:0010160 tyrosinemia type II MONDO:0004741 NCIT:C129032 NCIT:C98640 tyrosinemia -MONDO:0010161 tyrosinemia type I MONDO:0004741 NCIT:C98641 NCIT:C98640 tyrosinemia -MONDO:0010168 Usher syndrome type 1 MONDO:0019501 NCIT:C126327 NCIT:C85217 Usher syndrome -MONDO:0010186 vitamin D-dependent rickets, type 2A MONDO:0019642 NCIT:C131075 NCIT:C131077 vitamin D-dependent rickets, type 2 -MONDO:0010193 Weaver syndrome MONDO:0002254 NCIT:C125599 NCIT:C28193 syndromic disease -MONDO:0010198 Wernicke-Korsakoff syndrome MONDO:0002254 NCIT:C35764 NCIT:C28193 syndromic disease -MONDO:0010210 xeroderma pigmentosum group A MONDO:0019600 NCIT:C3965 NCIT:C3452 xeroderma pigmentosum -MONDO:0010211 xeroderma pigmentosum group C MONDO:0019600 NCIT:C114770 NCIT:C3452 xeroderma pigmentosum -MONDO:0010212 xeroderma pigmentosum group D MONDO:0019600 NCIT:C3967 NCIT:C3452 xeroderma pigmentosum -MONDO:0010213 xeroderma pigmentosum group E MONDO:0019600 NCIT:C114771 NCIT:C3452 xeroderma pigmentosum -MONDO:0010214 xeroderma pigmentosum variant type MONDO:0019600 NCIT:C141367 NCIT:C3452 xeroderma pigmentosum -MONDO:0010215 xeroderma pigmentosum group F MONDO:0019600 NCIT:C3968 NCIT:C3452 xeroderma pigmentosum -MONDO:0010216 xeroderma pigmentosum group G MONDO:0019600 NCIT:C3969 NCIT:C3452 xeroderma pigmentosum -MONDO:0010217 de Sanctis-Cacchione syndrome MONDO:0002254 NCIT:C84666 NCIT:C28193 syndromic disease -MONDO:0010264 X-linked adrenal hypoplasia congenita MONDO:0016241 NCIT:C123725 NCIT:C35261 alternating hemiplegia of childhood -MONDO:0010298 Lesch-Nyhan syndrome MONDO:0002254 NCIT:C61255 NCIT:C28193 syndromic disease -MONDO:0010311 Becker muscular dystrophy MONDO:0020121 NCIT:C84587 NCIT:C84910 muscular dystrophy -MONDO:0010351 Fanconi anemia complementation group B MONDO:0019391 NCIT:C125703 NCIT:C62505 Fanconi anemia -MONDO:0010370 Cornelia de Lange syndrome 2 MONDO:0016033 NCIT:C75485 NCIT:C75016 Cornelia de Lange syndrome -MONDO:0010382 fragile X-associated tremor/ataxia syndrome MONDO:0002254 NCIT:C126566 NCIT:C28193 syndromic disease -MONDO:0010383 fragile X syndrome MONDO:0002254 NCIT:C84717 NCIT:C28193 syndromic disease -MONDO:0010385 X-linked lymphoproliferative disease due to XIAP deficiency MONDO:0010627 NCIT:C126295 NCIT:C61246 X-linked lymphoproliferative syndrome MONDO:0010434 synovial sarcoma MONDO:0018078 NCIT:C3400 NCIT:C9306 soft tissue sarcoma -MONDO:0010475 X-linked central congenital hypothyroidism with late-onset testicular enlargement MONDO:0002254 NCIT:C130989 NCIT:C28193 syndromic disease -MONDO:0010518 Wiskott-Aldrich syndrome MONDO:0015131 NCIT:C3448 NCIT:C27871 combined immunodeficiency -MONDO:0010518 Wiskott-Aldrich syndrome MONDO:0015356 NCIT:C3448 NCIT:C3266 hereditary neoplastic syndrome -MONDO:0010526 Fabry disease MONDO:0019255 NCIT:C84701 NCIT:C117254 sphingolipidosis -MONDO:0010543 Barth syndrome MONDO:0017359 NCIT:C84585 NCIT:C98678 3-methylglutaconic aciduria -MONDO:0010568 Aicardi syndrome MONDO:0002254 NCIT:C35256 NCIT:C28193 syndromic disease -MONDO:0010580 immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome MONDO:0002254 NCIT:C131009 NCIT:C28193 syndromic disease -MONDO:0010586 X-linked Ehlers-Danlos syndrome MONDO:0020066 NCIT:C141423 NCIT:C34568 Ehlers-Danlos syndrome -MONDO:0010602 hemophilia A MONDO:0018660 NCIT:C27146 NCIT:C3093 hemophilia -MONDO:0010604 hemophilia B MONDO:0018660 NCIT:C26721 NCIT:C3093 hemophilia -MONDO:0010627 X-linked lymphoproliferative syndrome MONDO:0021094 NCIT:C61246 NCIT:C3131 immunodeficiency disease -MONDO:0010635 hypogonadotropic hypogonadism 1 with or without anosmia MONDO:0018800 NCIT:C75480 NCIT:C75479 Kallmann syndrome MONDO:0010643 acute leukemia MONDO:0005059 NCIT:C9300 NCIT:C3161 leukemia -MONDO:0010645 oculocerebrorenal syndrome MONDO:0002254 NCIT:C84940 NCIT:C28193 syndromic disease -MONDO:0010651 Menkes disease MONDO:0002254 NCIT:C75486 NCIT:C28193 syndromic disease -MONDO:0010674 mucopolysaccharidosis type 2 MONDO:0002254 NCIT:C61260 NCIT:C28193 syndromic disease -MONDO:0010674 mucopolysaccharidosis type 2 MONDO:0019249 NCIT:C61260 NCIT:C61259 mucopolysaccharidosis -MONDO:0010679 Duchenne muscular dystrophy MONDO:0020121 NCIT:C75482 NCIT:C84910 muscular dystrophy -MONDO:0010702 orofaciodigital syndrome I MONDO:0002254 NCIT:C75481 NCIT:C28193 syndromic disease -MONDO:0010704 otopalatodigital syndrome type 1 MONDO:0002254 NCIT:C118845 NCIT:C28193 syndromic disease -MONDO:0010720 partial androgen insensitivity syndrome MONDO:0019154 NCIT:C120192 NCIT:C27226 androgen insensitivity syndrome -MONDO:0010726 Rett syndrome MONDO:0002254 NCIT:C75488 NCIT:C28193 syndromic disease -MONDO:0010731 Simpson-Golabi-Behmel syndrome MONDO:0002254 NCIT:C131002 NCIT:C28193 syndromic disease -MONDO:0010765 46,XY complete gonadal dysgenesis MONDO:0001967 NCIT:C120198 NCIT:C61420 gonadal dysgenesis MONDO:0010768 gonadoblastoma MONDO:0002478 NCIT:C3754 NCIT:C5241 mixed germ cell-sex cord-stromal tumor -MONDO:0010787 Kearns-Sayre syndrome MONDO:0002254 NCIT:C84798 NCIT:C28193 syndromic disease -MONDO:0010788 Leber hereditary optic neuropathy MONDO:0043878 NCIT:C84808 NCIT:C34864 hereditary optic atrophy -MONDO:0010789 MELAS syndrome MONDO:0002254 NCIT:C84885 NCIT:C28193 syndromic disease -MONDO:0010790 MERRF syndrome MONDO:0002254 NCIT:C84889 NCIT:C28193 syndromic disease MONDO:0010795 oncocytic neoplasm MONDO:0024276 NCIT:C7072 NCIT:C7132 glandular cell neoplasm -MONDO:0010797 Pearson syndrome MONDO:0002254 NCIT:C115326 NCIT:C28193 syndromic disease -MONDO:0010808 fatal familial insomnia MONDO:0013600 NCIT:C84711 NCIT:C28286 insomnia -MONDO:0010811 benign prostatic hyperplasia MONDO:0005043 NCIT:C2897 NCIT:C3113 hyperplasia -MONDO:0010837 primary hyperparathyroidism MONDO:0001741 NCIT:C48280 NCIT:C48259 hyperparathyroidism -MONDO:0010879 CODAS syndrome MONDO:0002254 NCIT:C126744 NCIT:C28193 syndromic disease -MONDO:0010894 maturity-onset diabetes of the young type 3 MONDO:0018911 NCIT:C129742 NCIT:C114769 maturity-onset diabetes of the young -MONDO:0010913 Caroli disease MONDO:0006322 NCIT:C84619 NCIT:C35774 non-neoplastic bile duct disorder -MONDO:0010931 vitamin D-dependent rickets, type 2B MONDO:0019642 NCIT:C131076 NCIT:C131077 vitamin D-dependent rickets, type 2 -MONDO:0010953 Fanconi anemia complementation group E MONDO:0019391 NCIT:C125709 NCIT:C62505 Fanconi anemia -MONDO:0011022 Potocki-Shaffer syndrome MONDO:0002254 NCIT:C75456 NCIT:C28193 syndromic disease -MONDO:0011093 mucopolysaccharidosis type 9 MONDO:0019249 NCIT:C129073 NCIT:C61259 mucopolysaccharidosis -MONDO:0011146 tetrasomy 12p MONDO:0002254 NCIT:C75458 NCIT:C28193 syndromic disease -MONDO:0011147 chromosome 18q deletion syndrome MONDO:0002254 NCIT:C84522 NCIT:C28193 syndromic disease -MONDO:0011178 infantile convulsions and choreoathetosis MONDO:0002254 NCIT:C126650 NCIT:C28193 syndromic disease -MONDO:0011266 myotonic dystrophy type 2 MONDO:0016107 NCIT:C84680 NCIT:C84914 myotonic dystrophy -MONDO:0011281 congenital myasthenic syndrome 5 MONDO:0018940 NCIT:C129304 NCIT:C84647 congenital myasthenic syndrome -MONDO:0011325 Fanconi anemia complementation group F MONDO:0019391 NCIT:C125707 NCIT:C62505 Fanconi anemia MONDO:0011366 ovarian germ cell tumor MONDO:0005040 NCIT:C3873 NCIT:C3708 germ cell tumor MONDO:0011366 ovarian germ cell tumor MONDO:0021068 NCIT:C3873 NCIT:C4984 ovarian neoplasm -MONDO:0011374 hypercholesterolemia, familial, 4 MONDO:0037748 NCIT:C128114 NCIT:C34709 hyperlipoproteinemia -MONDO:0011382 sickle cell anemia MONDO:0019050 NCIT:C34383 NCIT:C3092 inherited hemoglobinopathy -MONDO:0011383 autoimmune lymphoproliferative syndrome type 2A MONDO:0017979 NCIT:C39576 NCIT:C37864 autoimmune lymphoproliferative syndrome -MONDO:0011399 alpha thalassemia MONDO:0000984 NCIT:C34368 NCIT:C35069 thalassemia -MONDO:0011424 Carney triad MONDO:0021058 NCIT:C94833 NCIT:C54705 neoplastic syndrome -MONDO:0011429 juvenile idiopathic arthritis MONDO:0005578 NCIT:C114357 NCIT:C2883 arthritic joint disease -MONDO:0011438 acne MONDO:0002406 NCIT:C27195 NCIT:C2983 dermatitis -MONDO:0011441 complex regional pain syndrome type 1 MONDO:0002254 NCIT:C85042 NCIT:C28193 syndromic disease -MONDO:0011462 pyogenic arthritis-pyoderma gangrenosum-acne syndrome MONDO:0019751 NCIT:C119055 NCIT:C119050 autoinflammatory syndrome MONDO:0011465 infundibulocystic basal cell carcinoma MONDO:0005341 NCIT:C27540 NCIT:C2921 skin basal cell carcinoma -MONDO:0011493 Stickler syndrome type 2 MONDO:0019354 NCIT:C74985 NCIT:C74984 Stickler syndrome -MONDO:0011514 tricuspid atresia MONDO:0005453 NCIT:C85202 NCIT:C95834 congenital heart disease -MONDO:0011528 hyper-IgM syndrome type 2 MONDO:0003947 NCIT:C129074 NCIT:C84783 hyper-IgM syndrome -MONDO:0011531 Noonan syndrome 2 MONDO:0018997 NCIT:C176930 NCIT:C34854 Noonan syndrome -MONDO:0011558 Usher syndrome type 2C MONDO:0016484 NCIT:C153174 NCIT:C126328 Usher syndrome type 2 -MONDO:0011576 familial hyperaldosteronism type II MONDO:0016525 NCIT:C127162 NCIT:C127160 familial hyperaldosteronism -MONDO:0011583 cerebral amyloid angiopathy, APP-related MONDO:0005620 NCIT:C157147 NCIT:C84625 cerebral amyloid angiopathy -MONDO:0011584 Fanconi anemia complementation group D1 MONDO:0019391 NCIT:C125705 NCIT:C62505 Fanconi anemia MONDO:0011655 alveolar soft part sarcoma MONDO:0018078 NCIT:C3750 NCIT:C9306 soft tissue sarcoma -MONDO:0011662 pathological gambling MONDO:0001162 NCIT:C94335 NCIT:C34723 impulse control disorder -MONDO:0011667 maturity-onset diabetes of the young type 4 MONDO:0018911 NCIT:C129746 NCIT:C114769 maturity-onset diabetes of the young -MONDO:0011668 maturity-onset diabetes of the young type 6 MONDO:0018911 NCIT:C129745 NCIT:C114769 maturity-onset diabetes of the young -MONDO:0011686 DNA ligase IV deficiency MONDO:0002254 NCIT:C122657 NCIT:C28193 syndromic disease MONDO:0011705 lymphangioleiomyomatosis MONDO:0006359 NCIT:C3725 NCIT:C38150 neoplasm with perivascular epithelioid cell differentiation -MONDO:0011709 split hand-foot malformation 5 MONDO:0016576 NCIT:C75002 NCIT:C75000 split hand-foot malformation -MONDO:0011716 acute hemorrhagic leukoencephalitis MONDO:0003337 NCIT:C84535 NCIT:C35796 acute hemorrhagic encephalitis -MONDO:0011740 Carney-Stratakis syndrome MONDO:0015356 NCIT:C94831 NCIT:C3266 hereditary neoplastic syndrome -MONDO:0011758 Hurler syndrome MONDO:0001586 NCIT:C61261 NCIT:C85053 mucopolysaccharidosis type 1 -MONDO:0011758 Hurler syndrome MONDO:0002254 NCIT:C61261 NCIT:C28193 syndromic disease -MONDO:0011759 Hurler-Scheie syndrome MONDO:0001586 NCIT:C122782 NCIT:C85053 mucopolysaccharidosis type 1 -MONDO:0011759 Hurler-Scheie syndrome MONDO:0002254 NCIT:C122782 NCIT:C28193 syndromic disease -MONDO:0011760 Scheie syndrome MONDO:0001586 NCIT:C61265 NCIT:C85053 mucopolysaccharidosis type 1 -MONDO:0011760 Scheie syndrome MONDO:0002254 NCIT:C61265 NCIT:C28193 syndromic disease -MONDO:0011784 Moyamoya disease 2 MONDO:0016820 NCIT:C183312 NCIT:C84895 Moyamoya disease -MONDO:0011786 allergic rhinitis MONDO:0003014 NCIT:C79532 NCIT:C34986 rhinitis MONDO:0011789 familial meningioma MONDO:0016642 NCIT:C5301 NCIT:C3230 meningioma -MONDO:0011826 glucocorticoid deficiency 2 MONDO:0008733 NCIT:C123728 NCIT:C120446 familial glucocorticoid deficiency -MONDO:0011827 patent ductus arteriosus MONDO:0005385 NCIT:C84492 NCIT:C35117 vascular disorder -MONDO:0011885 tubulointerstitial nephritis and uveitis syndrome MONDO:0002254 NCIT:C123021 NCIT:C28193 syndromic disease MONDO:0011927 tufted angioma MONDO:0003110 NCIT:C4487 NCIT:C4905 skin hemangioma -MONDO:0011959 sweet syndrome MONDO:0002254 NCIT:C85177 NCIT:C28193 syndromic disease MONDO:0011962 endometrial cancer MONDO:0021251 NCIT:C27815 NCIT:C3012 endometrium neoplasm MONDO:0011996 chronic myelogenous leukemia, BCR-ABL1 positive MONDO:0004643 NCIT:C3174 NCIT:C3172 myeloid leukemia -MONDO:0011997 Hermansky-Pudlak syndrome 2 MONDO:0019312 NCIT:C150368 NCIT:C37261 Hermansky-Pudlak syndrome -MONDO:0012000 specific phobia MONDO:0003699 NCIT:C35284 NCIT:C35420 phobic disorder MONDO:0012004 parathyroid gland carcinoma MONDO:0004970 NCIT:C4906 NCIT:C2852 adenocarcinoma MONDO:0012004 parathyroid gland carcinoma MONDO:0021311 NCIT:C4906 NCIT:C9322 malignant tumor of parathyroid gland -MONDO:0012078 Joubert syndrome 3 MONDO:0018772 NCIT:C148259 NCIT:C74996 Joubert syndrome -MONDO:0012089 ichthyosis prematurity syndrome MONDO:0043905 NCIT:C62590 NCIT:C113159 pneumonitis -MONDO:0012104 acquired partial lipodystrophy MONDO:0027767 NCIT:C129723 NCIT:C131296 partial lipodystrophy -MONDO:0012105 granulomatosis with polyangiitis MONDO:0002462 NCIT:C123111 NCIT:C26784 glomerulonephritis -MONDO:0012172 mitochondrial trifunctional protein deficiency MONDO:0002525 NCIT:C98991 NCIT:C97092 inherited lipid metabolism disorder -MONDO:0012186 Fanconi anemia complementation group I MONDO:0019391 NCIT:C129026 NCIT:C62505 Fanconi anemia -MONDO:0012187 Fanconi anemia complementation group J MONDO:0019391 NCIT:C129027 NCIT:C62505 Fanconi anemia -MONDO:0012212 Loeys-Dietz syndrome 1 MONDO:0018954 NCIT:C75119 NCIT:C75006 Loeys-Dietz syndrome -MONDO:0012252 rhabdoid tumor predisposition syndrome 1 MONDO:0016473 NCIT:C178393 NCIT:C93268 familial rhabdoid tumor -MONDO:0012268 AIDS MONDO:0003780 NCIT:C2851 NCIT:C27145 T-cell immunodeficiency -MONDO:0012275 fetal valproate syndrome MONDO:0002254 NCIT:C98930 NCIT:C28193 syndromic disease -MONDO:0012308 Joubert syndrome with renal defect MONDO:0018772 NCIT:C74997 NCIT:C74996 Joubert syndrome -MONDO:0012316 Majeed syndrome MONDO:0019751 NCIT:C119058 NCIT:C119050 autoinflammatory syndrome -MONDO:0012371 Noonan syndrome 3 MONDO:0018997 NCIT:C176931 NCIT:C34854 Noonan syndrome -MONDO:0012383 primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency MONDO:0021094 NCIT:C123729 NCIT:C3131 immunodeficiency disease -MONDO:0012400 cortical dysplasia-focal epilepsy syndrome MONDO:0002254 NCIT:C133743 NCIT:C28193 syndromic disease -MONDO:0012427 Loeys-Dietz syndrome 2 MONDO:0018954 NCIT:C114768 NCIT:C75006 Loeys-Dietz syndrome -MONDO:0012435 3-methylglutaconic aciduria type 5 MONDO:0017359 NCIT:C173146 NCIT:C98678 3-methylglutaconic aciduria -MONDO:0012521 herpes simplex encephalitis MONDO:0006009 NCIT:C84762 NCIT:C35302 viral encephalitis -MONDO:0012529 Diamond-Blackfan anemia 3 MONDO:0015253 NCIT:C176912 NCIT:C61236 Diamond-Blackfan anemia -MONDO:0012531 xeroderma pigmentosum group B MONDO:0019600 NCIT:C3966 NCIT:C3452 xeroderma pigmentosum -MONDO:0012547 Noonan syndrome 4 MONDO:0018997 NCIT:C176932 NCIT:C34854 Noonan syndrome MONDO:0012552 multiple endocrine neoplasia type 4 MONDO:0017169 NCIT:C157449 NCIT:C6432 multiple endocrine neoplasia -MONDO:0012554 cerebrooculofacioskeletal syndrome 4 MONDO:0008926 NCIT:C173104 NCIT:C3817 COFS syndrome -MONDO:0012574 Potocki-Lupski syndrome MONDO:0002254 NCIT:C124846 NCIT:C28193 syndromic disease -MONDO:0012589 Pitt-Hopkins syndrome MONDO:0002254 NCIT:C129872 NCIT:C28193 syndromic disease -MONDO:0012590 XFE progeroid syndrome MONDO:0002254 NCIT:C173111 NCIT:C28193 syndromic disease -MONDO:0012690 Noonan syndrome 5 MONDO:0018997 NCIT:C176933 NCIT:C34854 Noonan syndrome -MONDO:0012694 Joubert syndrome 7 MONDO:0018772 NCIT:C159653 NCIT:C74996 Joubert syndrome -MONDO:0012727 mucocutaneous lymph node syndrome MONDO:0018882 NCIT:C34825 NCIT:C26912 vasculitis -MONDO:0012806 ectodermal dysplasia and immunodeficiency 2 MONDO:0010293 NCIT:C176826 NCIT:C118844 ectodermal dysplasia and immune deficiency -MONDO:0012812 developmental and epileptic encephalopathy, 4 MONDO:0100062 NCIT:C162472 NCIT:C122814 developmental and epileptic encephalopathy MONDO:0012817 Ewing sarcoma MONDO:0005089 NCIT:C4817 NCIT:C9118 sarcoma MONDO:0012817 Ewing sarcoma MONDO:0021038 NCIT:C4817 NCIT:C27291 Ewing sarcoma/peripheral primitive neuroectodermal tumor MONDO:0012825 extraskeletal myxoid chondrosarcoma MONDO:0018078 NCIT:C27502 NCIT:C9306 soft tissue sarcoma -MONDO:0012849 Joubert syndrome 9 MONDO:0018772 NCIT:C181002 NCIT:C74996 Joubert syndrome -MONDO:0012897 congenital factor XI deficiency MONDO:0020587 NCIT:C84705 NCIT:C131739 factor XI deficiency -MONDO:0012924 Diamond-Blackfan anemia 4 MONDO:0015253 NCIT:C176913 NCIT:C61236 Diamond-Blackfan anemia -MONDO:0012925 Diamond-Blackfan anemia 5 MONDO:0015253 NCIT:C176914 NCIT:C61236 Diamond-Blackfan anemia -MONDO:0012937 Diamond-Blackfan anemia 6 MONDO:0015253 NCIT:C176915 NCIT:C61236 Diamond-Blackfan anemia -MONDO:0012938 Diamond-Blackfan anemia 7 MONDO:0015253 NCIT:C176916 NCIT:C61236 Diamond-Blackfan anemia -MONDO:0012939 Diamond-Blackfan anemia 8 MONDO:0015253 NCIT:C176917 NCIT:C61236 Diamond-Blackfan anemia -MONDO:0013021 sterile multifocal osteomyelitis with periostitis and pustulosis MONDO:0019751 NCIT:C119056 NCIT:C119050 autoinflammatory syndrome MONDO:0013074 encephalocraniocutaneous lipomatosis MONDO:0006574 NCIT:C4701 NCIT:C3193 lipomatosis -MONDO:0013081 lymphoproliferative syndrome 1 MONDO:0021094 NCIT:C126344 NCIT:C3131 immunodeficiency disease -MONDO:0013098 noise induced hearing loss MONDO:0005365 NCIT:C34664 NCIT:C35731 hearing loss disorder -MONDO:0013118 Nijmegen breakage syndrome-like disorder MONDO:0021190 NCIT:C153178 NCIT:C7757 DNA repair disease -MONDO:0013131 polycystic kidney disease 2 MONDO:0004691 NCIT:C123166 NCIT:C84578 autosomal dominant polycystic kidney disease -MONDO:0013186 Noonan syndrome 6 MONDO:0018997 NCIT:C176934 NCIT:C34854 Noonan syndrome -MONDO:0013189 trichotillomania MONDO:0001162 NCIT:C94336 NCIT:C34723 impulse control disorder -MONDO:0013199 tuberous sclerosis 2 MONDO:0001734 NCIT:C75331 NCIT:C3424 tuberous sclerosis -MONDO:0013216 Diamond-Blackfan anemia 9 MONDO:0015253 NCIT:C176918 NCIT:C61236 Diamond-Blackfan anemia -MONDO:0013217 Diamond-Blackfan anemia 10 MONDO:0015253 NCIT:C176919 NCIT:C61236 Diamond-Blackfan anemia -MONDO:0013224 rhabdoid tumor predisposition syndrome 2 MONDO:0016473 NCIT:C178394 NCIT:C93268 familial rhabdoid tumor -MONDO:0013282 alpha 1-antitrypsin deficiency MONDO:0002254 NCIT:C84397 NCIT:C28193 syndromic disease MONDO:0013296 myeloid neoplasm associated with FGFR1 rearrangement MONDO:0015688 NCIT:C84277 NCIT:C84270 myeloid/lymphoid neoplasms associated with eosinophilia and abnormality of PDGFRA, PDGFRB, FGFR1 or JAK2 -MONDO:0013310 congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency MONDO:0018479 NCIT:C174439 NCIT:C34360 congenital adrenal hyperplasia -MONDO:0013327 primary hyperoxaluria type 3 MONDO:0002474 NCIT:C123214 NCIT:C123158 primary hyperoxaluria -MONDO:0013364 Rubinstein-Taybi syndrome due to EP300 haploinsufficiency MONDO:0019188 NCIT:C153291 NCIT:C75466 Rubinstein-Taybi syndrome -MONDO:0013379 Noonan syndrome 7 MONDO:0018997 NCIT:C176935 NCIT:C34854 Noonan syndrome -MONDO:0013512 hemoglobin H disease MONDO:0011399 NCIT:C95504 NCIT:C34368 alpha thalassemia -MONDO:0013519 dyskeratosis congenita, autosomal recessive 2 MONDO:0015780 NCIT:C176926 NCIT:C111802 dyskeratosis congenita -MONDO:0013520 dyskeratosis congenita, autosomal recessive 3 MONDO:0015780 NCIT:C176927 NCIT:C111802 dyskeratosis congenita -MONDO:0013521 dyskeratosis congenita, autosomal dominant 2 MONDO:0015780 NCIT:C176922 NCIT:C111802 dyskeratosis congenita -MONDO:0013522 dyskeratosis congenita, autosomal dominant 3 MONDO:0015780 NCIT:C176923 NCIT:C111802 dyskeratosis congenita -MONDO:0013551 hereditary spastic paraplegia 47 MONDO:0019064 NCIT:C164224 NCIT:C140267 hereditary spastic paraplegia -MONDO:0013565 Fanconi anemia complementation group G MONDO:0019391 NCIT:C125708 NCIT:C62505 Fanconi anemia -MONDO:0013600 insomnia MONDO:0100081 NCIT:C28286 NCIT:C3376 sleep disorder -MONDO:0013626 psoriasis 14, pustular MONDO:0019751 NCIT:C119057 NCIT:C119050 autoinflammatory syndrome -MONDO:0013688 linear and whorled nevoid hypermelanosis MONDO:0006499 NCIT:C3924 NCIT:C3075 hamartoma -MONDO:0013824 Joubert syndrome 17 MONDO:0018772 NCIT:C175702 NCIT:C74996 Joubert syndrome -MONDO:0013860 idiopathic membranous glomerulonephritis MONDO:0005376 NCIT:C123060 NCIT:C34645 membranous glomerulonephritis -MONDO:0013873 IMAGe syndrome MONDO:0002254 NCIT:C130988 NCIT:C28193 syndromic disease -MONDO:0013874 glucocorticoid deficiency 4 MONDO:0008733 NCIT:C131452 NCIT:C120446 familial glucocorticoid deficiency -MONDO:0013898 karyomegalic interstitial nephritis MONDO:0001085 NCIT:C173626 NCIT:C26834 interstitial nephritis -MONDO:0013964 Diamond-Blackfan anemia 11 MONDO:0015253 NCIT:C176920 NCIT:C61236 Diamond-Blackfan anemia -MONDO:0014040 autosomal recessive osteopetrosis 8 MONDO:0019026 NCIT:C150556 NCIT:C129733 autosomal recessive osteopetrosis -MONDO:0014042 left ventricular noncompaction 7 MONDO:0018901 NCIT:C157266 NCIT:C99544 left ventricular noncompaction -MONDO:0014143 Noonan syndrome 8 MONDO:0018997 NCIT:C176936 NCIT:C34854 Noonan syndrome -MONDO:0014221 triosephosphate isomerase deficiency MONDO:0003689 NCIT:C131652 NCIT:C34379 familial hemolytic anemia -MONDO:0014221 triosephosphate isomerase deficiency MONDO:0020585 NCIT:C131652 NCIT:C131630 anemia due to erythrocyte enzyme disorder -MONDO:0014247 familial episodic pain syndrome with predominantly lower limb involvement MONDO:0002254 NCIT:C125390 NCIT:C28193 syndromic disease -MONDO:0014328 developmental and epileptic encephalopathy, 19 MONDO:0100062 NCIT:C142802 NCIT:C122814 developmental and epileptic encephalopathy -MONDO:0014448 hyperthyroxinemia, familial dysalbuminemic MONDO:0004425 NCIT:C131813 NCIT:C3123 hyperthyroidism -MONDO:0014521 progressive myoclonic epilepsy type 7 MONDO:0020074 NCIT:C142804 NCIT:C7636 progressive myoclonus epilepsy -MONDO:0014541 motor developmental delay due to 14q32.2 paternally expressed gene defect MONDO:0002254 NCIT:C120409 NCIT:C28193 syndromic disease -MONDO:0014600 dyskeratosis congenita, autosomal recessive 6 MONDO:0015780 NCIT:C176929 NCIT:C111802 dyskeratosis congenita -MONDO:0014690 dyskeratosis congenita, autosomal dominant 6 MONDO:0015780 NCIT:C176924 NCIT:C111802 dyskeratosis congenita -MONDO:0014691 Noonan syndrome 9 MONDO:0018997 NCIT:C176937 NCIT:C34854 Noonan syndrome -MONDO:0014693 Noonan syndrome 10 MONDO:0018997 NCIT:C176938 NCIT:C34854 Noonan syndrome -MONDO:0014888 MIRAGE syndrome MONDO:0002254 NCIT:C147530 NCIT:C28193 syndromic disease -MONDO:0015028 48,XXYY syndrome MONDO:0002254 NCIT:C89801 NCIT:C28193 syndromic disease MONDO:0015032 intraneural perineurioma MONDO:0019404 NCIT:C6911 NCIT:C4973 perineurioma -MONDO:0015040 myelodysplastic syndrome with excess blasts-1 MONDO:0019454 NCIT:C7167 NCIT:C7506 myelodysplastic syndrome with excess blasts -MONDO:0015041 myelodysplastic syndrome with excess blasts-2 MONDO:0019454 NCIT:C7168 NCIT:C7506 myelodysplastic syndrome with excess blasts MONDO:0015044 mu-heavy chain disease MONDO:0019464 NCIT:C3892 NCIT:C3082 heavy chain disease MONDO:0015045 alpha-heavy chain disease MONDO:0019464 NCIT:C3132 NCIT:C3082 heavy chain disease MONDO:0015046 gamma-heavy chain disease MONDO:0019464 NCIT:C3083 NCIT:C3082 heavy chain disease @@ -4282,70 +2965,28 @@ MONDO:0015066 neuroendocrine tumor of the appendix, well differentiated, low or MONDO:0015067 neuroendocrine tumor of the colon, well differentiated, low or intermediate grade tumor MONDO:0002882 NCIT:C135212 NCIT:C5697 colon neuroendocrine neoplasm MONDO:0015068 neuroendocrine tumor of rectum, well differentiated, low or intermediate grade MONDO:0003646 NCIT:C135213 NCIT:C5698 rectum neuroendocrine neoplasm MONDO:0015069 neuroendocrine tumor of the anal canal MONDO:0003504 NCIT:C96540 NCIT:C5603 anal canal neuroendocrine neoplasm -MONDO:0015070 laryngeal neuroendocrine neoplasm MONDO:0019496 NCIT:C6023 NCIT:C3809 neuroendocrine neoplasm MONDO:0015070 laryngeal neuroendocrine neoplasm MONDO:0021071 NCIT:C6023 NCIT:C3156 laryngeal neoplasm MONDO:0015072 liver neuroendocrine carcinoma MONDO:0018531 NCIT:C96787 NCIT:C7927 carcinoma of liver and intrahepatic biliary tract MONDO:0015073 gallbladder neuroendocrine tumor, grade 1/2 MONDO:0000386 NCIT:C96918 NCIT:C95404 digestive system neuroendocrine tumor, grade 1/2 MONDO:0015073 gallbladder neuroendocrine tumor, grade 1/2 MONDO:0024502 NCIT:C96918 NCIT:C96917 gallbladder neuroendocrine neoplasm MONDO:0015074 thyroid tumor MONDO:0003240 NCIT:C3414 NCIT:C26893 thyroid gland disorder MONDO:0015075 thyroid gland carcinoma MONDO:0002108 NCIT:C4815 NCIT:C7510 thyroid cancer -MONDO:0015104 porphyria cutanea tarda MONDO:0002406 NCIT:C27725 NCIT:C2983 dermatitis -MONDO:0015129 chronic primary adrenal insufficiency MONDO:0015128 NCIT:C26689 NCIT:C113172 primary adrenal insufficiency -MONDO:0015131 combined immunodeficiency MONDO:0021094 NCIT:C27871 NCIT:C3131 immunodeficiency disease -MONDO:0015134 constitutional neutropenia MONDO:0009332 NCIT:C61242 NCIT:C104003 congenital hematological disorder -MONDO:0015194 sideroblastic anemia MONDO:0002280 NCIT:C36078 NCIT:C2869 anemia -MONDO:0015228 pentasomy X MONDO:0002254 NCIT:C89802 NCIT:C28193 syndromic disease -MONDO:0015229 Bardet-Biedl syndrome MONDO:0002254 NCIT:C118632 NCIT:C28193 syndromic disease -MONDO:0015231 Bartter syndrome MONDO:0002254 NCIT:C34412 NCIT:C28193 syndromic disease -MONDO:0015243 allergic bronchopulmonary aspergillosis MONDO:0005657 NCIT:C84547 NCIT:C2886 aspergillosis -MONDO:0015249 mitral atresia disorder MONDO:0003767 NCIT:C98992 NCIT:C78446 mitral valve disorder -MONDO:0015249 mitral atresia disorder MONDO:0005453 NCIT:C98992 NCIT:C95834 congenital heart disease -MONDO:0015253 Diamond-Blackfan anemia MONDO:0001705 NCIT:C61236 NCIT:C34974 pure red-cell aplasia -MONDO:0015263 Brugada syndrome MONDO:0002254 NCIT:C142891 NCIT:C28193 syndromic disease -MONDO:0015267 Feingold syndrome MONDO:0002254 NCIT:C74987 NCIT:C28193 syndromic disease -MONDO:0015268 medullary sponge kidney MONDO:0002473 NCIT:C34751 NCIT:C34750 cystic kidney disease MONDO:0015278 familial pancreatic carcinoma MONDO:0005192 NCIT:C43298 NCIT:C3850 exocrine pancreatic carcinoma -MONDO:0015288 herpes simplex virus keratitis MONDO:0023865 NCIT:C34743 NCIT:C83813 corneal infection -MONDO:0015342 acute transverse myelitis MONDO:0002565 NCIT:C128378 NCIT:C26832 myelitis -MONDO:0015356 hereditary neoplastic syndrome MONDO:0003847 NCIT:C3266 NCIT:C3101 hereditary disease -MONDO:0015356 hereditary neoplastic syndrome MONDO:0021058 NCIT:C3266 NCIT:C54705 neoplastic syndrome -MONDO:0015397 craniofacial microsomia 1 MONDO:0002254 NCIT:C84740 NCIT:C28193 syndromic disease MONDO:0015403 non-involuting congenital hemangioma MONDO:0018715 NCIT:C172208 NCIT:C3841 congenital hemangioma MONDO:0015404 rapidly involuting congenital hemangioma MONDO:0018715 NCIT:C172207 NCIT:C3841 congenital hemangioma -MONDO:0015426 Desbuquois dysplasia MONDO:0005516 NCIT:C124056 NCIT:C84978 osteochondrodysplasia -MONDO:0015452 Coffin-Siris syndrome MONDO:0002254 NCIT:C35321 NCIT:C28193 syndromic disease -MONDO:0015455 gonococcal conjunctivitis MONDO:0006668 NCIT:C116816 NCIT:C53656 bacterial conjunctivitis MONDO:0015459 nasopharyngeal carcinoma MONDO:0021315 NCIT:C3871 NCIT:C9321 malignant tumor of nasopharynx MONDO:0015459 nasopharyngeal carcinoma MONDO:0021345 NCIT:C3871 NCIT:C9466 carcinoma of pharynx -MONDO:0015461 short rib-polydactyly syndrome MONDO:0002254 NCIT:C85065 NCIT:C28193 syndromic disease -MONDO:0015517 common variable immunodeficiency MONDO:0016463 NCIT:C26725 NCIT:C26931 syndromic agammaglobulinemia MONDO:0015523 epithelioid hemangioendothelioma MONDO:0002095 NCIT:C3800 NCIT:C8538 vascular cancer MONDO:0015523 epithelioid hemangioendothelioma MONDO:0021121 NCIT:C3800 NCIT:C3084 hemangioendothelioma -MONDO:0015530 trigeminal autonomic cephalalgia MONDO:0043218 NCIT:C117074 NCIT:C117007 neurovascular disorder MONDO:0015538 indeterminate dendritic cell tumor MONDO:0006247 NCIT:C81767 NCIT:C9294 histiocytic and dendritic cell neoplasm -MONDO:0015540 hemophagocytic syndrome MONDO:0002254 NCIT:C35439 NCIT:C28193 syndromic disease -MONDO:0015542 secondary hemophagocytic lymphohistiocytosis MONDO:0015540 NCIT:C121184 NCIT:C34792 hemophagocytic syndrome -MONDO:0015573 subacute cutaneous lupus erythematosus MONDO:0005282 NCIT:C117111 NCIT:C26819 cutaneous lupus erythematosus -MONDO:0015597 pustulosis palmaris et plantaris MONDO:0002406 NCIT:C34888 NCIT:C2983 dermatitis -MONDO:0015635 porokeratotic eccrine ostial and dermal duct nevus MONDO:0024482 NCIT:C4740 NCIT:C5564 eccrine sweat gland hamartoma -MONDO:0015663 diencephalic syndrome MONDO:0002254 NCIT:C116955 NCIT:C28193 syndromic disease MONDO:0015667 acute myeloid leukemia by FAB classification MONDO:0018874 NCIT:C27753 NCIT:C3171 acute myeloid leukemia -MONDO:0015681 childhood disintegrative disorder MONDO:0000594 NCIT:C97164 NCIT:C97179 pervasive developmental disorder MONDO:0015687 chronic eosinophilic leukemia MONDO:0001014 NCIT:C4563 NCIT:C3483 chronic leukemia MONDO:0015687 chronic eosinophilic leukemia MONDO:0020076 NCIT:C4563 NCIT:C4345 myeloproliferative neoplasm MONDO:0015688 myeloid/lymphoid neoplasms associated with eosinophilia and abnormality of PDGFRA, PDGFRB, FGFR1 or JAK2 MONDO:0044881 NCIT:C84270 NCIT:C27134 hematopoietic and lymphoid cell neoplasm MONDO:0015689 myeloid neoplasm associated with PDGFRA rearrangement MONDO:0015688 NCIT:C84275 NCIT:C84270 myeloid/lymphoid neoplasms associated with eosinophilia and abnormality of PDGFRA, PDGFRB, FGFR1 or JAK2 MONDO:0015690 myeloid neoplasm associated with PDGFRB rearrangement MONDO:0015688 NCIT:C84276 NCIT:C84270 myeloid/lymphoid neoplasms associated with eosinophilia and abnormality of PDGFRA, PDGFRB, FGFR1 or JAK2 -MONDO:0015691 hypereosinophilic syndrome MONDO:0002254 NCIT:C27038 NCIT:C28193 syndromic disease -MONDO:0015698 transient hypogammaglobulinemia of infancy MONDO:0003827 NCIT:C27071 NCIT:C27319 transient hypogammaglobulinemia -MONDO:0015742 periventricular leukomalacia MONDO:0006741 NCIT:C99013 NCIT:C98920 encephalomalacia -MONDO:0015759 B-cell non-Hodgkin lymphoma MONDO:0004095 NCIT:C3457 NCIT:C27907 B-cell neoplasm MONDO:0015759 B-cell non-Hodgkin lymphoma MONDO:0018908 NCIT:C3457 NCIT:C3211 non-Hodgkin lymphoma MONDO:0015760 T-cell non-Hodgkin lymphoma MONDO:0018908 NCIT:C3466 NCIT:C3211 non-Hodgkin lymphoma -MONDO:0015762 progressive familial intrahepatic cholestasis MONDO:0002254 NCIT:C84453 NCIT:C28193 syndromic disease -MONDO:0015770 congenital hypogonadotropic hypogonadism MONDO:0018555 NCIT:C120162 NCIT:C113347 hypogonadotropic hypogonadism -MONDO:0015776 rhizomelic chondrodysplasia punctata MONDO:0019701 NCIT:C85047 NCIT:C84632 chondrodysplasia punctata -MONDO:0015779 45,X/46,XY mixed gonadal dysgenesis MONDO:0001967 NCIT:C120199 NCIT:C61420 gonadal dysgenesis MONDO:0015808 folliculotropic mycosis fungoides MONDO:0045071 NCIT:C35685 NCIT:C39644 mycosis fungoides variant MONDO:0015809 localized pagetoid reticulosis MONDO:0045071 NCIT:C35794 NCIT:C39644 mycosis fungoides variant MONDO:0015864 mixed germ cell tumor MONDO:0006290 NCIT:C4290 NCIT:C4925 malignant germ cell tumor @@ -4355,43 +2996,18 @@ MONDO:0015871 benign breast phyllodes tumor MONDO:0021047 NCIT:C5196 NCIT:C7575 MONDO:0015871 benign breast phyllodes tumor MONDO:0037002 NCIT:C5196 NCIT:C4274 benign phyllodes tumor MONDO:0015873 Paget disease of the nipple MONDO:0002648 NCIT:C3301 NCIT:C47857 mammary Paget disease MONDO:0015873 Paget disease of the nipple MONDO:0003950 NCIT:C3301 NCIT:C28432 nipple carcinoma -MONDO:0015892 growth hormone insensitivity syndrome MONDO:0002254 NCIT:C129867 NCIT:C28193 syndromic disease -MONDO:0015903 hyperalphalipoproteinemia MONDO:0037748 NCIT:C128806 NCIT:C34709 hyperlipoproteinemia -MONDO:0015909 aplastic anemia MONDO:0002280 NCIT:C2870 NCIT:C2869 anemia -MONDO:0015912 macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss MONDO:0002254 NCIT:C131646 NCIT:C28193 syndromic disease -MONDO:0015926 pneumoconiosis MONDO:0015925 NCIT:C26861 NCIT:C164315 interstitial lung disease -MONDO:0015943 eosinophilic granulomatosis with polyangiitis MONDO:0002254 NCIT:C34481 NCIT:C28193 syndromic disease -MONDO:0015967 monogenic diabetes MONDO:0005015 NCIT:C129739 NCIT:C2985 diabetes mellitus -MONDO:0015974 severe combined immunodeficiency MONDO:0015131 NCIT:C3472 NCIT:C27871 combined immunodeficiency -MONDO:0015986 bilateral renal agenesis MONDO:0018470 NCIT:C101219 NCIT:C99041 renal agenesis -MONDO:0015987 scimitar syndrome MONDO:0002254 NCIT:C85056 NCIT:C28193 syndromic disease -MONDO:0015988 multicystic dysplastic kidney MONDO:0002473 NCIT:C123031 NCIT:C34750 cystic kidney disease -MONDO:0015991 citrullinemia MONDO:0004739 NCIT:C84639 NCIT:C84785 urea cycle disorder -MONDO:0016001 2-hydroxyglutaric aciduria MONDO:0019052 NCIT:C128187 NCIT:C34816 inborn errors of metabolism -MONDO:0016002 Ehlers-Danlos syndrome, kyphoscoliotic type 1 MONDO:0020066 NCIT:C125700 NCIT:C34568 Ehlers-Danlos syndrome -MONDO:0016008 fetal hydantoin syndrome MONDO:0002254 NCIT:C98927 NCIT:C28193 syndromic disease -MONDO:0016010 vitamin K-antagonist embryofetopathy MONDO:0002254 NCIT:C98906 NCIT:C28193 syndromic disease -MONDO:0016011 fetal alcohol syndrome MONDO:0002254 NCIT:C84713 NCIT:C28193 syndromic disease -MONDO:0016030 Evans syndrome MONDO:0002254 NCIT:C61284 NCIT:C28193 syndromic disease -MONDO:0016033 Cornelia de Lange syndrome MONDO:0002254 NCIT:C75016 NCIT:C28193 syndromic disease MONDO:0016037 superficial Fibromatosis MONDO:0005031 NCIT:C6814 NCIT:C3042 fibromatosis MONDO:0016038 calcified aponeurotic fibroma MONDO:0005167 NCIT:C4818 NCIT:C3041 fibroma -MONDO:0016085 Cole-Carpenter syndrome MONDO:0002254 NCIT:C130985 NCIT:C28193 syndromic disease MONDO:0016093 borderline epithelial tumor of ovary MONDO:0002229 NCIT:C4783 NCIT:C4381 ovarian epithelial tumor MONDO:0016095 vaginal rhabdomyosarcoma MONDO:0002140 NCIT:C128080 NCIT:C7737 vagina sarcoma MONDO:0016095 vaginal rhabdomyosarcoma MONDO:0005212 NCIT:C128080 NCIT:C3359 rhabdomyosarcoma MONDO:0016096 malignant non-dysgerminomatous germ cell tumor of ovary MONDO:0003408 NCIT:C102870 NCIT:C39986 ovarian primitive germ cell tumor MONDO:0016096 malignant non-dysgerminomatous germ cell tumor of ovary MONDO:0021656 NCIT:C102870 NCIT:C121619 nongerminomatous germ cell tumor -MONDO:0016129 eosinophilic gastroenteritis MONDO:0002269 NCIT:C35330 NCIT:C34632 gastroenteritis MONDO:0016167 optic pathway glioma MONDO:0021042 NCIT:C8567 NCIT:C3059 glioma MONDO:0016216 adult hepatocellular carcinoma MONDO:0007256 NCIT:C7956 NCIT:C3099 hepatocellular carcinoma -MONDO:0016218 Guillain-Barre syndrome MONDO:0002254 NCIT:C116345 NCIT:C28193 syndromic disease MONDO:0016222 spindle cell hemangioma MONDO:0006500 NCIT:C4754 NCIT:C3085 hemangioma MONDO:0016236 kaposiform hemangioendothelioma MONDO:0021121 NCIT:C27510 NCIT:C3084 hemangioendothelioma MONDO:0016238 solitary fibrous tumor MONDO:0006209 NCIT:C7634 NCIT:C7075 fibroblastic neoplasm -MONDO:0016242 hemoglobin C disease MONDO:0019050 NCIT:C34675 NCIT:C3092 inherited hemoglobinopathy -MONDO:0016243 hemoglobin E disease MONDO:0019050 NCIT:C35287 NCIT:C3092 inherited hemoglobinopathy -MONDO:0016244 atypical hemolytic-uremic syndrome MONDO:0002254 NCIT:C123223 NCIT:C28193 syndromic disease MONDO:0016255 uterine corpus mixed epithelial and mesenchymal neoplasm MONDO:0021043 NCIT:C40181 NCIT:C6930 mixed neoplasm MONDO:0016255 uterine corpus mixed epithelial and mesenchymal neoplasm MONDO:0021254 NCIT:C40181 NCIT:C6300 corpus uteri neoplasm MONDO:0016258 uterine corpus carcinofibroma MONDO:0002879 NCIT:C40182 NCIT:C6311 uterine body mixed cancer @@ -4401,39 +3017,12 @@ MONDO:0016260 uterine corpus rhabdomyosarcoma MONDO:0005210 NCIT:C127058 NCIT:C6 MONDO:0016260 uterine corpus rhabdomyosarcoma MONDO:0005212 NCIT:C127058 NCIT:C3359 rhabdomyosarcoma MONDO:0016262 leiomyosarcoma of the corpus uteri MONDO:0005058 NCIT:C6340 NCIT:C3158 leiomyosarcoma MONDO:0016262 leiomyosarcoma of the corpus uteri MONDO:0005210 NCIT:C6340 NCIT:C6339 uterine corpus sarcoma -MONDO:0016264 autoimmune hepatitis MONDO:0002251 NCIT:C27029 NCIT:C3095 hepatitis -MONDO:0016281 46,XX ovotesticular disorder of sex development MONDO:0002145 NCIT:C127167 NCIT:C103186 disorder of sexual differentiation MONDO:0016282 rhabdomyosarcoma of the cervix uteri MONDO:0005212 NCIT:C128048 NCIT:C3359 rhabdomyosarcoma MONDO:0016283 leiomyosarcoma of the cervix uteri MONDO:0005058 NCIT:C128047 NCIT:C3158 leiomyosarcoma -MONDO:0016296 holoprosencephaly MONDO:0002254 NCIT:C74988 NCIT:C28193 syndromic disease -MONDO:0016301 congenitally corrected transposition of the great arteries MONDO:0000153 NCIT:C98902 NCIT:C84742 transposition of the great arteries -MONDO:0016322 neuroendocrine cell hyperplasia of infancy MONDO:0005043 NCIT:C120169 NCIT:C3113 hyperplasia -MONDO:0016349 congenital hydrocephalus MONDO:0001150 NCIT:C98876 NCIT:C3111 hydrocephalus -MONDO:0016349 congenital hydrocephalus MONDO:0002320 NCIT:C98876 NCIT:C97172 congenital nervous system disorder -MONDO:0016356 diffuse cutaneous systemic sclerosis MONDO:0005100 NCIT:C116791 NCIT:C72070 systemic sclerosis -MONDO:0016359 limited systemic sclerosis MONDO:0005100 NCIT:C116789 NCIT:C72070 systemic sclerosis -MONDO:0016367 dermatomyositis MONDO:0005554 NCIT:C26744 NCIT:C27204 rheumatic disorder -MONDO:0016368 Rothmund-Thomson syndrome type 1 MONDO:0010002 NCIT:C178826 NCIT:C3335 Rothmund-Thomson syndrome -MONDO:0016369 Rothmund-Thomson syndrome type 2 MONDO:0010002 NCIT:C178827 NCIT:C3335 Rothmund-Thomson syndrome -MONDO:0016383 nephrogenic diabetes insipidus MONDO:0004782 NCIT:C84919 NCIT:C43263 diabetes insipidus MONDO:0016419 hereditary breast carcinoma MONDO:0004989 NCIT:C4503 NCIT:C4872 breast carcinoma -MONDO:0016453 foodborne botulism MONDO:0005498 NCIT:C128341 NCIT:C84599 botulism -MONDO:0016466 asbestosis MONDO:0015926 NCIT:C84573 NCIT:C26861 pneumoconiosis -MONDO:0016467 isotretinoin syndrome MONDO:0002254 NCIT:C98929 NCIT:C28193 syndromic disease -MONDO:0016473 familial rhabdoid tumor MONDO:0015356 NCIT:C93268 NCIT:C3266 hereditary neoplastic syndrome -MONDO:0016474 drug-induced lupus erythematosus MONDO:0004670 NCIT:C114354 NCIT:C27153 lupus erythematosus -MONDO:0016484 Usher syndrome type 2 MONDO:0019501 NCIT:C126328 NCIT:C85217 Usher syndrome -MONDO:0016485 Usher syndrome type 3 MONDO:0019501 NCIT:C126329 NCIT:C85217 Usher syndrome MONDO:0016505 aldosterone-producing adrenal cortex adenoma MONDO:0003924 NCIT:C48451 NCIT:C9003 adrenal cortex adenoma -MONDO:0016512 Kabuki syndrome MONDO:0002254 NCIT:C124837 NCIT:C28193 syndromic disease -MONDO:0016516 Kenny-Caffey syndrome MONDO:0002254 NCIT:C130991 NCIT:C28193 syndromic disease -MONDO:0016532 Lennox-Gastaut syndrome MONDO:0002254 NCIT:C84816 NCIT:C28193 syndromic disease -MONDO:0016535 hypohidrotic ectodermal dysplasia MONDO:0019287 NCIT:C84562 NCIT:C84683 ectodermal dysplasia syndrome -MONDO:0016575 primary ciliary dyskinesia MONDO:0002254 NCIT:C84797 NCIT:C28193 syndromic disease MONDO:0016586 systemic mastocytosis MONDO:0007950 NCIT:C9235 NCIT:C84269 mastocytosis -MONDO:0016607 odontohypophosphatasia MONDO:0018570 NCIT:C131309 NCIT:C26798 hypophosphatasia MONDO:0016611 lipoblastoma MONDO:0044983 NCIT:C27483 NCIT:C4502 benign lipomatous neoplasm -MONDO:0016621 juvenile Huntington disease MONDO:0007739 NCIT:C147072 NCIT:C82342 Huntington disease MONDO:0016642 meningioma MONDO:0016743 NCIT:C3230 NCIT:C3229 tumor of meninges MONDO:0016680 high grade astrocytic tumor MONDO:0021636 NCIT:C102897 NCIT:C6958 astrocytic tumor MONDO:0016680 high grade astrocytic tumor MONDO:0100342 NCIT:C102897 NCIT:C4822 malignant glioma @@ -4486,12 +3075,7 @@ MONDO:0016743 tumor of meninges MONDO:0006130 NCIT:C3229 NCIT:C9293 central nerv MONDO:0016747 primary melanoma of the central nervous system MONDO:0003222 NCIT:C5505 NCIT:C5504 central nervous system melanocytic neoplasm MONDO:0016747 primary melanoma of the central nervous system MONDO:0006320 NCIT:C5505 NCIT:C8711 non-cutaneous melanoma MONDO:0016755 neurofibroma MONDO:0002547 NCIT:C3272 NCIT:C4972 nerve sheath neoplasm -MONDO:0016773 atrophic lichen planus MONDO:0006572 NCIT:C34777 NCIT:C3189 lichen planus -MONDO:0016778 iatrogenic botulism MONDO:0005498 NCIT:C128345 NCIT:C84599 botulism -MONDO:0016785 complete hydatidiform mole MONDO:0006248 NCIT:C4871 NCIT:C3110 hydatidiform mole -MONDO:0016786 partial hydatidiform mole MONDO:0006248 NCIT:C4293 NCIT:C3110 hydatidiform mole MONDO:0016787 epithelioid trophoblastic tumor MONDO:0018944 NCIT:C6900 NCIT:C4699 gestational trophoblastic neoplasm -MONDO:0016823 mycetoma MONDO:0005550 NCIT:C85505 NCIT:C26726 infectious disease MONDO:0016824 infantile myofibromatosis MONDO:0003342 NCIT:C3742 NCIT:C6529 benign perivascular tumor MONDO:0016974 thymoma type B MONDO:0006456 NCIT:C7114 NCIT:C3411 thymoma MONDO:0016975 thymoma type AB MONDO:0006456 NCIT:C6885 NCIT:C3411 thymoma @@ -4501,36 +3085,16 @@ MONDO:0017029 Langerhans cell histiocytosis specific to adulthood MONDO:0018310 MONDO:0017043 congenital mesoblastic nephroma MONDO:0005564 NCIT:C6569 NCIT:C3264 embryonal neoplasm MONDO:0017043 congenital mesoblastic nephroma MONDO:0036511 NCIT:C6569 NCIT:C123907 childhood malignant kidney neoplasm MONDO:0017050 intraocular medulloepithelioma MONDO:0005564 NCIT:C66806 NCIT:C3264 embryonal neoplasm -MONDO:0017078 cephalocele MONDO:0002320 NCIT:C84687 NCIT:C97172 congenital nervous system disorder -MONDO:0017079 meningoencephalocele MONDO:0001147 NCIT:C124517 NCIT:C105595 meningocele -MONDO:0017124 noma MONDO:0004848 NCIT:C34852 NCIT:C35039 ulcerative stomatitis -MONDO:0017138 Opitz G/BBB syndrome MONDO:0002254 NCIT:C125487 NCIT:C28193 syndromic disease MONDO:0017207 primary organ-specific lymphoma MONDO:0005062 NCIT:C7185 NCIT:C3208 lymphoma -MONDO:0017215 calciphylaxis MONDO:0002254 NCIT:C84607 NCIT:C28193 syndromic disease -MONDO:0017236 rapidly progressive glomerulonephritis MONDO:0002462 NCIT:C35264 NCIT:C26784 glomerulonephritis -MONDO:0017255 panuveitis MONDO:0020283 NCIT:C84989 NCIT:C26909 uveitis -MONDO:0017278 autoimmune polyendocrinopathy MONDO:0002254 NCIT:C129726 NCIT:C28193 syndromic disease MONDO:0017286 tempi syndrome MONDO:0002254 NCIT:C121656 NCIT:C28193 syndromic disease MONDO:0017292 well-differentiated fetal adenocarcinoma of the lung MONDO:0005061 NCIT:C45509 NCIT:C3512 lung adenocarcinoma MONDO:0017292 well-differentiated fetal adenocarcinoma of the lung MONDO:0005606 NCIT:C45509 NCIT:C65192 tubular adenocarcinoma -MONDO:0017314 Ehlers-Danlos syndrome, vascular type MONDO:0020066 NCIT:C125699 NCIT:C34568 Ehlers-Danlos syndrome -MONDO:0017323 hypocalcemic rickets MONDO:0005520 NCIT:C131421 NCIT:C26878 rickets MONDO:0017346 Epstein-Barr virus-positive diffuse large B-cell lymphoma of the elderly MONDO:0018905 NCIT:C80281 NCIT:C8851 diffuse large B-cell lymphoma MONDO:0017347 plasmablastic lymphoma MONDO:0018905 NCIT:C7224 NCIT:C8851 diffuse large B-cell lymphoma MONDO:0017349 myopericytoma MONDO:0002604 NCIT:C50401 NCIT:C6528 pericytic neoplasm -MONDO:0017361 congenital rubella syndrome MONDO:0004656 NCIT:C34992 NCIT:C85051 rubella -MONDO:0017372 congenital varicella syndrome MONDO:0002254 NCIT:C116800 NCIT:C28193 syndromic disease -MONDO:0017376 reactive arthritis MONDO:0005578 NCIT:C128332 NCIT:C2883 arthritic joint disease -MONDO:0017384 acute generalized exanthematous pustulosis MONDO:0002406 NCIT:C112122 NCIT:C2983 dermatitis MONDO:0017386 pleomorphic rhabdomyosarcoma MONDO:0005212 NCIT:C4258 NCIT:C3359 rhabdomyosarcoma MONDO:0017387 epithelioid sarcoma MONDO:0018078 NCIT:C3714 NCIT:C9306 soft tissue sarcoma -MONDO:0017409 fetal cytomegalovirus syndrome MONDO:0005132 NCIT:C122427 NCIT:C53649 cytomegalovirus infection -MONDO:0017435 popliteal pterygium syndrome MONDO:0002254 NCIT:C118786 NCIT:C28193 syndromic disease -MONDO:0017571 Proteus-like syndrome MONDO:0017623 NCIT:C179930 NCIT:C179915 PTEN hamartoma tumor syndrome -MONDO:0017572 tick-borne encephalitis MONDO:0006009 NCIT:C34579 NCIT:C35302 viral encephalitis -MONDO:0017576 46,XX disorder of sex development MONDO:0002145 NCIT:C127169 NCIT:C103186 disorder of sexual differentiation MONDO:0017582 pituitary adenocarcinoma MONDO:0002109 NCIT:C4536 NCIT:C4769 pituitary cancer -MONDO:0017582 pituitary adenocarcinoma MONDO:0004970 NCIT:C4536 NCIT:C2852 adenocarcinoma MONDO:0017590 carcinoma of the ampulla of vater MONDO:0000919 NCIT:C3908 NCIT:C3536 ampulla of vater cancer MONDO:0017595 aggressive B-cell non-Hodgkin lymphoma MONDO:0015759 NCIT:C178541 NCIT:C3457 B-cell non-Hodgkin lymphoma MONDO:0017596 diffuse large B-cell lymphoma of the central nervous system MONDO:0018905 NCIT:C71720 NCIT:C8851 diffuse large B-cell lymphoma @@ -4540,77 +3104,42 @@ MONDO:0017598 primary cutaneous anaplastic large cell lymphoma MONDO:0020325 NCI MONDO:0017602 ALK-positive anaplastic large cell lymphoma MONDO:0020325 NCIT:C37193 NCIT:C3720 anaplastic large cell lymphoma MONDO:0017603 ALK-negative anaplastic large cell lymphoma MONDO:0020325 NCIT:C37194 NCIT:C3720 anaplastic large cell lymphoma MONDO:0017604 marginal zone lymphoma MONDO:0017594 NCIT:C4341 NCIT:C171299 indolent B-cell non-Hodgkin lymphoma +MONDO:0017611 pituitary tumor MONDO:0002720 NCIT:C3330 NCIT:C4944 sella turcica neoplasm MONDO:0017611 pituitary tumor MONDO:0003381 NCIT:C3330 NCIT:C26854 pituitary gland disorder -MONDO:0017771 Mayer-Rokitansky-Kuster-Hauser syndrome MONDO:0002254 NCIT:C124853 NCIT:C28193 syndromic disease -MONDO:0017773 hypoalphalipoproteinemia MONDO:0005066 NCIT:C84774 NCIT:C3235 metabolic disease MONDO:0017795 ameloblastoma MONDO:0021192 NCIT:C4313 NCIT:C3286 odontogenic neoplasm -MONDO:0017799 Meigs syndrome MONDO:0021058 NCIT:C3223 NCIT:C54705 neoplastic syndrome -MONDO:0017807 growing teratoma syndrome MONDO:0021058 NCIT:C118370 NCIT:C54705 neoplastic syndrome MONDO:0017814 primary bone lymphoma MONDO:0002129 NCIT:C6620 NCIT:C4016 bone cancer MONDO:0017814 primary bone lymphoma MONDO:0017207 NCIT:C6620 NCIT:C7185 primary organ-specific lymphoma MONDO:0017827 malignant peripheral nerve sheath tumor MONDO:0002547 NCIT:C3798 NCIT:C4972 nerve sheath neoplasm MONDO:0017827 malignant peripheral nerve sheath tumor MONDO:0021089 NCIT:C3798 NCIT:C4961 peripheral nervous system cancer MONDO:0017858 acute erythroid leukemia MONDO:0015667 NCIT:C8923 NCIT:C27753 acute myeloid leukemia by FAB classification MONDO:0017858 acute erythroid leukemia MONDO:0020703 NCIT:C8923 NCIT:C7064 erythroid neoplasm -MONDO:0017879 hantavirus pulmonary syndrome MONDO:0002254 NCIT:C84747 NCIT:C28193 syndromic disease -MONDO:0017879 hantavirus pulmonary syndrome MONDO:0005780 NCIT:C84747 NCIT:C3899 hantavirus infectious disease -MONDO:0017880 Rift valley fever MONDO:0018087 NCIT:C128419 NCIT:C36170 viral hemorrhagic fever MONDO:0017884 papillary renal cell carcinoma MONDO:0002512 NCIT:C6975 NCIT:C2853 papillary adenocarcinoma MONDO:0017884 papillary renal cell carcinoma MONDO:0005549 NCIT:C6975 NCIT:C9385 renal cell adenocarcinoma MONDO:0017885 chromophobe renal cell carcinoma MONDO:0005549 NCIT:C4146 NCIT:C9385 renal cell adenocarcinoma MONDO:0017887 renal cell carcinoma associated with neuroblastoma MONDO:0005549 NCIT:C100051 NCIT:C9385 renal cell adenocarcinoma MONDO:0017890 tubulocystic renal cell carcinoma MONDO:0005549 NCIT:C126303 NCIT:C9385 renal cell adenocarcinoma MONDO:0017895 familial papillary or follicular thyroid carcinoma MONDO:0015447 NCIT:C118829 NCIT:C7153 differentiated thyroid carcinoma -MONDO:0017979 autoimmune lymphoproliferative syndrome MONDO:0021058 NCIT:C37864 NCIT:C54705 neoplastic syndrome -MONDO:0017987 syringomyelia MONDO:0002545 NCIT:C85179 NCIT:C97110 spinal cord disorder -MONDO:0017991 Takayasu arteritis MONDO:0002254 NCIT:C34391 NCIT:C28193 syndromic disease -MONDO:0017991 Takayasu arteritis MONDO:0043494 NCIT:C35062 NCIT:C34399 arteritis -MONDO:0018017 goblet cell carcinoma MONDO:0021659 NCIT:C3689 NCIT:C4139 combined carcinoid and adenocarcinoma -MONDO:0018024 hydroa vacciniforme MONDO:0002406 NCIT:C84766 NCIT:C2983 dermatitis MONDO:0018031 granulomatous slack skin disease MONDO:0045071 NCIT:C35464 NCIT:C39644 mycosis fungoides variant -MONDO:0018034 thalidomide embryopathy MONDO:0002254 NCIT:C99082 NCIT:C28193 syndromic disease -MONDO:0018037 hyper-IgE syndrome MONDO:0002468 NCIT:C3144 NCIT:C27579 hyperimmunoglobulin syndrome -MONDO:0018044 idiopathic hypersomnia MONDO:0005466 NCIT:C116343 NCIT:C78346 hypersomnia MONDO:0018055 pediatric hepatocellular carcinoma MONDO:0007256 NCIT:C7955 NCIT:C3099 hepatocellular carcinoma -MONDO:0018056 bullous lichen planus MONDO:0006572 NCIT:C34778 NCIT:C3189 lichen planus -MONDO:0018066 trisomy X MONDO:0002254 NCIT:C129718 NCIT:C28193 syndromic disease -MONDO:0018068 trisomy 13 MONDO:0002254 NCIT:C101223 NCIT:C28193 syndromic disease -MONDO:0018072 persistent truncus arteriosus MONDO:0005453 NCIT:C98880 NCIT:C95834 congenital heart disease -MONDO:0018076 tuberculosis MONDO:0020590 NCIT:C3423 NCIT:C26831 mycobacterial infectious disease MONDO:0018078 soft tissue sarcoma MONDO:0005089 NCIT:C9306 NCIT:C9118 sarcoma MONDO:0018078 soft tissue sarcoma MONDO:0024637 NCIT:C9306 NCIT:C4867 malignant soft tissue neoplasm MONDO:0018079 thymic epithelial neoplasm MONDO:0005197 NCIT:C6450 NCIT:C3412 thymus neoplasm MONDO:0018079 thymic epithelial neoplasm MONDO:0005626 NCIT:C6450 NCIT:C3709 epithelial neoplasm -MONDO:0018087 viral hemorrhagic fever MONDO:0005108 NCIT:C36170 NCIT:C3439 viral infectious disease -MONDO:0018094 Waardenburg syndrome MONDO:0002254 NCIT:C85222 NCIT:C28193 syndromic disease -MONDO:0018096 Weill-Marchesani syndrome MONDO:0002254 NCIT:C85226 NCIT:C28193 syndromic disease -MONDO:0018097 West syndrome MONDO:0002254 NCIT:C84788 NCIT:C28193 syndromic disease -MONDO:0018105 Wolfram syndrome MONDO:0002254 NCIT:C35133 NCIT:C28193 syndromic disease -MONDO:0018124 Oncogenic osteomalacia MONDO:0001068 NCIT:C67235 NCIT:C26838 osteomalacia -MONDO:0018124 Oncogenic osteomalacia MONDO:0021073 NCIT:C67235 NCIT:C3311 paraneoplastic syndrome -MONDO:0018150 Gaucher disease MONDO:0019255 NCIT:C61268 NCIT:C117254 sphingolipidosis MONDO:0018160 hereditary retinoblastoma MONDO:0008380 NCIT:C8495 NCIT:C7541 retinoblastoma -MONDO:0018170 idiopathic nephrotic syndrome MONDO:0005377 NCIT:C122796 NCIT:C34845 nephrotic syndrome MONDO:0018171 malignant germ cell tumor of ovary MONDO:0006290 NCIT:C4514 NCIT:C4925 malignant germ cell tumor MONDO:0018171 malignant germ cell tumor of ovary MONDO:0011366 NCIT:C4514 NCIT:C3873 ovarian germ cell tumor MONDO:0018172 malignant sex cord stromal tumor of ovary MONDO:0021657 NCIT:C8053 NCIT:C4862 ovarian sex cord-stromal tumor MONDO:0018177 glioblastoma MONDO:0016680 NCIT:C3058 NCIT:C102897 high grade astrocytic tumor MONDO:0018201 extragonadal germ cell tumor MONDO:0005040 NCIT:C3918 NCIT:C3708 germ cell tumor -MONDO:0018221 immune hydrops fetalis MONDO:0015193 NCIT:C111904 NCIT:C84767 hydrops fetalis MONDO:0018223 systemic Epstein-Barr virus-positive T-cell lymphoproliferative disease of childhood MONDO:0006188 NCIT:C80374 NCIT:C80373 EBV-positive T-cell lymphoproliferative disorder of childhood MONDO:0018224 hydroa vacciniforme-like lymphoma MONDO:0006188 NCIT:C45327 NCIT:C80373 EBV-positive T-cell lymphoproliferative disorder of childhood MONDO:0018225 ALK-positive large B-cell lymphoma MONDO:0018905 NCIT:C7225 NCIT:C8851 diffuse large B-cell lymphoma -MONDO:0018229 Stevens-Johnson syndrome MONDO:0002254 NCIT:C79484 NCIT:C28193 syndromic disease -MONDO:0018237 acrofacial dysostosis MONDO:0018234 NCIT:C35795 NCIT:C34560 dysostosis MONDO:0018270 extraskeletal Ewing sarcoma MONDO:0012817 NCIT:C7135 NCIT:C4817 Ewing sarcoma MONDO:0018270 extraskeletal Ewing sarcoma MONDO:0018078 NCIT:C7135 NCIT:C9306 soft tissue sarcoma MONDO:0018270 extraskeletal Ewing sarcoma MONDO:0021039 NCIT:C7135 NCIT:C27293 extraskeletal Ewing sarcoma/peripheral primitive neuroectodermal tumor MONDO:0018271 peripheral primitive neuroectodermal tumor MONDO:0005462 NCIT:C9341 NCIT:C3716 primitive neuroectodermal tumor MONDO:0018271 peripheral primitive neuroectodermal tumor MONDO:0021038 NCIT:C9341 NCIT:C27291 Ewing sarcoma/peripheral primitive neuroectodermal tumor MONDO:0018271 peripheral primitive neuroectodermal tumor MONDO:0021089 NCIT:C9341 NCIT:C4961 peripheral nervous system cancer -MONDO:0018301 interstitial cystitis MONDO:0006030 NCIT:C27189 NCIT:C27008 chronic cystitis -MONDO:0018308 liver mesenchymal hamartoma MONDO:0024478 NCIT:C5751 NCIT:C40427 mesenchymal hamartoma -MONDO:0018326 transient neonatal myasthenia gravis MONDO:0009688 NCIT:C117308 NCIT:C60989 myasthenia gravis MONDO:0018327 glomus tumor MONDO:0002604 NCIT:C3060 NCIT:C6528 pericytic neoplasm MONDO:0018330 mucinous adenocarcinoma of the appendix MONDO:0006087 NCIT:C43558 NCIT:C7718 appendix adenocarcinoma MONDO:0018352 squamous cell carcinoma of penis MONDO:0005096 NCIT:C7729 NCIT:C2929 squamous cell carcinoma @@ -4619,11 +3148,8 @@ MONDO:0018364 malignant epithelial tumor of ovary MONDO:0002229 NCIT:C40026 NCIT MONDO:0018364 malignant epithelial tumor of ovary MONDO:0008170 NCIT:C40026 NCIT:C7431 ovarian cancer MONDO:0018368 primary peritoneal serous/papillary carcinoma MONDO:0006386 NCIT:C7695 NCIT:C40023 primary peritoneal serous adenocarcinoma MONDO:0018369 immature ovarian teratoma MONDO:0003821 NCIT:C8111 NCIT:C39992 ovarian biphasic or triphasic teratoma -MONDO:0018373 avascular necrosis MONDO:0005380 NCIT:C34841 NCIT:C34880 osteonecrosis -MONDO:0018439 eosinophilic colitis MONDO:0000702 NCIT:C27053 NCIT:C38504 microscopic colitis MONDO:0018447 chondromyxoid fibroma MONDO:0000631 NCIT:C3830 NCIT:C4880 bone benign neoplasm MONDO:0018447 chondromyxoid fibroma MONDO:0024470 NCIT:C3830 NCIT:C8592 benign chondrogenic neoplasm -MONDO:0018453 familial atypical multiple mole melanoma syndrome MONDO:0015356 NCIT:C27264 NCIT:C3266 hereditary neoplastic syndrome MONDO:0018481 undifferentiated carcinoma of esophagus MONDO:0005617 NCIT:C27422 NCIT:C3692 undifferentiated carcinoma MONDO:0018492 hereditary clear cell renal cell carcinoma MONDO:0003008 NCIT:C36260 NCIT:C39789 hereditary renal cell carcinoma MONDO:0018492 hereditary clear cell renal cell carcinoma MONDO:0005005 NCIT:C36260 NCIT:C4033 clear cell renal carcinoma @@ -4639,138 +3165,48 @@ MONDO:0018515 squamous cell carcinoma of rectum MONDO:0006165 NCIT:C5554 NCIT:C4 MONDO:0018515 squamous cell carcinoma of rectum MONDO:0044937 NCIT:C5554 NCIT:C9382 rectal carcinoma MONDO:0018531 carcinoma of liver and intrahepatic biliary tract MONDO:0002691 NCIT:C7927 NCIT:C34803 liver cancer MONDO:0018531 carcinoma of liver and intrahepatic biliary tract MONDO:0006181 NCIT:C7927 NCIT:C96963 digestive system carcinoma -MONDO:0018542 severe congenital neutropenia MONDO:0015134 NCIT:C166152 NCIT:C61242 constitutional neutropenia -MONDO:0018544 adrenoleukodystrophy MONDO:0019046 NCIT:C61252 NCIT:C61253 leukodystrophy -MONDO:0018555 hypogonadotropic hypogonadism MONDO:0002146 NCIT:C113347 NCIT:C9227 hypogonadism -MONDO:0018604 familial colorectal cancer type X MONDO:0018630 NCIT:C120084 NCIT:C120083 hereditary nonpolyposis colon cancer -MONDO:0018612 congenital hypothyroidism MONDO:0005420 NCIT:C26734 NCIT:C26800 hypothyroidism -MONDO:0018616 central serous chorioretinopathy MONDO:0005283 NCIT:C115124 NCIT:C62601 retinal disorder -MONDO:0018634 hereditary amyloidosis MONDO:0019065 NCIT:C84555 NCIT:C2868 amyloidosis -MONDO:0018646 sclerosing cholangitis MONDO:0004789 NCIT:C4828 NCIT:C26718 cholangitis -MONDO:0018660 hemophilia MONDO:0002242 NCIT:C3093 NCIT:C27215 coagulation protein disease MONDO:0018666 hepatoblastoma MONDO:0005564 NCIT:C3728 NCIT:C3264 embryonal neoplasm -MONDO:0018677 visceral heterotaxy MONDO:0002254 NCIT:C117273 NCIT:C28193 syndromic disease -MONDO:0018683 acquired ichthyosis MONDO:0019269 NCIT:C112831 NCIT:C84776 ichthyosis -MONDO:0018687 progressive muscular atrophy MONDO:0004976 NCIT:C85027 NCIT:C34373 amyotrophic lateral sclerosis MONDO:0018689 plasma cell leukemia MONDO:0004959 NCIT:C3180 NCIT:C4665 plasma cell neoplasm -MONDO:0018690 Holmes-Adie syndrome MONDO:0002254 NCIT:C34357 NCIT:C28193 syndromic disease MONDO:0018712 composite hemangioendothelioma MONDO:0021121 NCIT:C45475 NCIT:C3084 hemangioendothelioma MONDO:0018713 retiform hemangioendothelioma MONDO:0021121 NCIT:C27511 NCIT:C3084 hemangioendothelioma MONDO:0018714 primary intralymphatic angioendothelioma MONDO:0021121 NCIT:C7526 NCIT:C3084 hemangioendothelioma MONDO:0018715 congenital hemangioma MONDO:0006500 NCIT:C3841 NCIT:C3085 hemangioma MONDO:0018716 partially involuting congenital hemangioma MONDO:0018715 NCIT:C172209 NCIT:C3841 congenital hemangioma MONDO:0018734 verrucous hemangioma MONDO:0003110 NCIT:C4299 NCIT:C4905 skin hemangioma -MONDO:0018747 acquired epidermolysis bullosa MONDO:0006541 NCIT:C84690 NCIT:C67383 epidermolysis bullosa -MONDO:0018772 Joubert syndrome MONDO:0002254 NCIT:C74996 NCIT:C28193 syndromic disease -MONDO:0018800 Kallmann syndrome MONDO:0018555 NCIT:C75479 NCIT:C113347 hypogonadotropic hypogonadism MONDO:0018842 primary effusion lymphoma MONDO:0018905 NCIT:C6915 NCIT:C8851 diffuse large B-cell lymphoma MONDO:0018843 embryonal carcinoma of the central nervous system MONDO:0020574 NCIT:C7010 NCIT:C100093 central nervous system nongerminomatous germ cell tumor -MONDO:0018864 Kikuchi-Fujimoto disease MONDO:0002052 NCIT:C71719 NCIT:C26821 lymphadenitis -MONDO:0018868 metachromatic leukodystrophy MONDO:0019046 NCIT:C61251 NCIT:C61253 leukodystrophy -MONDO:0018868 metachromatic leukodystrophy MONDO:0019255 NCIT:C61251 NCIT:C117254 sphingolipidosis MONDO:0018871 acute myelomonocytic leukemia M4 MONDO:0015667 NCIT:C7463 NCIT:C27753 acute myeloid leukemia by FAB classification MONDO:0018872 acute megakaryoblastic leukemia MONDO:0015667 NCIT:C3170 NCIT:C27753 acute myeloid leukemia by FAB classification MONDO:0018874 acute myeloid leukemia MONDO:0004643 NCIT:C3171 NCIT:C3172 myeloid leukemia MONDO:0018874 acute myeloid leukemia MONDO:0010643 NCIT:C3171 NCIT:C9300 acute leukemia -MONDO:0018875 Li-Fraumeni syndrome MONDO:0015356 NCIT:C3476 NCIT:C3266 hereditary neoplastic syndrome -MONDO:0018876 mantle cell lymphoma MONDO:0017595 NCIT:C4337 NCIT:C178541 aggressive B-cell non-Hodgkin lymphoma MONDO:0018881 myelodysplastic syndrome MONDO:0021058 NCIT:C3247 NCIT:C54705 neoplastic syndrome -MONDO:0018882 vasculitis MONDO:0005385 NCIT:C26912 NCIT:C35117 vascular disorder -MONDO:0018893 Cobb syndrome MONDO:0015356 NCIT:C4485 NCIT:C3266 hereditary neoplastic syndrome -MONDO:0018895 Plummer-Vinson syndrome MONDO:0002254 NCIT:C85016 NCIT:C28193 syndromic disease -MONDO:0018896 thrombotic thrombocytopenic purpura MONDO:0043768 NCIT:C78797 NCIT:C26870 thrombocytopenic purpura -MONDO:0018901 left ventricular noncompaction MONDO:0002254 NCIT:C99544 NCIT:C28193 syndromic disease -MONDO:0018901 left ventricular noncompaction MONDO:0005453 NCIT:C99544 NCIT:C95834 congenital heart disease MONDO:0018907 craniopharyngioma MONDO:0002720 NCIT:C2964 NCIT:C4944 sella turcica neoplasm MONDO:0018908 non-Hodgkin lymphoma MONDO:0005062 NCIT:C3211 NCIT:C3208 lymphoma -MONDO:0018921 Meckel syndrome MONDO:0002254 NCIT:C98978 NCIT:C28193 syndromic disease -MONDO:0018927 SUNCT syndrome MONDO:0002254 NCIT:C85174 NCIT:C28193 syndromic disease MONDO:0018936 osteoblastoma MONDO:0000631 NCIT:C3294 NCIT:C4880 bone benign neoplasm -MONDO:0018937 mucopolysaccharidosis type 3 MONDO:0002254 NCIT:C61262 NCIT:C28193 syndromic disease -MONDO:0018937 mucopolysaccharidosis type 3 MONDO:0019249 NCIT:C61262 NCIT:C61259 mucopolysaccharidosis -MONDO:0018938 mucopolysaccharidosis type 4 MONDO:0002254 NCIT:C61263 NCIT:C28193 syndromic disease -MONDO:0018938 mucopolysaccharidosis type 4 MONDO:0019249 NCIT:C61263 NCIT:C61259 mucopolysaccharidosis -MONDO:0018940 congenital myasthenic syndrome MONDO:0002254 NCIT:C84647 NCIT:C28193 syndromic disease MONDO:0018944 gestational trophoblastic neoplasm MONDO:0002872 NCIT:C4699 NCIT:C3422 trophoblastic neoplasm MONDO:0018944 gestational trophoblastic neoplasm MONDO:0021148 NCIT:C4699 NCIT:C3053 female reproductive system neoplasm -MONDO:0018949 distal myopathy MONDO:0020121 NCIT:C84675 NCIT:C84910 muscular dystrophy -MONDO:0018954 Loeys-Dietz syndrome MONDO:0002254 NCIT:C75006 NCIT:C28193 syndromic disease MONDO:0018955 recurrent respiratory papillomatosis MONDO:0021098 NCIT:C128637 NCIT:C3713 papillomatosis -MONDO:0018963 hereditary methemoglobinemia MONDO:0001117 NCIT:C98898 NCIT:C34817 methemoglobinemia -MONDO:0018965 Alport syndrome MONDO:0002254 NCIT:C34842 NCIT:C28193 syndromic disease -MONDO:0018968 iniencephaly MONDO:0018075 NCIT:C124549 NCIT:C84923 neural tube defect -MONDO:0018969 craniorachischisis MONDO:0002320 NCIT:C98907 NCIT:C97172 congenital nervous system disorder -MONDO:0018975 neurofibromatosis type 1 MONDO:0021060 NCIT:C3273 NCIT:C179667 RASopathy -MONDO:0018975 neurofibromatosis type 1 MONDO:0021061 NCIT:C3273 NCIT:C6727 neurofibromatosis -MONDO:0018983 Tolosa-Hunt syndrome MONDO:0002254 NCIT:C85193 NCIT:C28193 syndromic disease -MONDO:0018984 Oroya fever MONDO:0005664 NCIT:C128441 NCIT:C84586 bartonellosis -MONDO:0018988 iridocorneal endothelial syndrome MONDO:0002254 NCIT:C84792 NCIT:C28193 syndromic disease MONDO:0019003 multiple endocrine neoplasia type 2 MONDO:0017169 NCIT:C123329 NCIT:C6432 multiple endocrine neoplasia MONDO:0019004 kidney Wilms tumor MONDO:0002367 NCIT:C40407 NCIT:C7548 kidney cancer MONDO:0019004 kidney Wilms tumor MONDO:0006058 NCIT:C40407 NCIT:C3267 Wilms tumor -MONDO:0019010 congenital isolated hyperinsulinism MONDO:0007834 NCIT:C122923 NCIT:C4375 islet cell adenomatosis -MONDO:0019018 Tako-tsubo cardiomyopathy MONDO:0004994 NCIT:C85181 NCIT:C34830 cardiomyopathy MONDO:0019023 cutaneous mastocytosis MONDO:0007950 NCIT:C7137 NCIT:C84269 mastocytosis MONDO:0019025 extracutaneous mastocytoma MONDO:0003079 NCIT:C7136 NCIT:C9303 mastocytoma -MONDO:0019026 autosomal recessive osteopetrosis MONDO:0017198 NCIT:C129733 NCIT:C26840 osteopetrosis MONDO:0019035 pancreatoblastoma MONDO:0002116 NCIT:C4265 NCIT:C7430 malignant exocrine pancreas neoplasm -MONDO:0019037 progressive supranuclear palsy MONDO:0002254 NCIT:C85028 NCIT:C28193 syndromic disease -MONDO:0019037 progressive supranuclear palsy MONDO:0005559 NCIT:C85028 NCIT:C4802 neurodegenerative disease -MONDO:0019052 inborn errors of metabolism MONDO:0005066 NCIT:C34816 NCIT:C3235 metabolic disease -MONDO:0019053 peroxisomal disease MONDO:0019052 NCIT:C85005 NCIT:C34816 inborn errors of metabolism MONDO:0019077 warty dyskeratoma MONDO:0002093 NCIT:C4087 NCIT:C7419 acanthoma MONDO:0019086 carcinoma of esophagus MONDO:0006181 NCIT:C3513 NCIT:C96963 digestive system carcinoma MONDO:0019086 carcinoma of esophagus MONDO:0007576 NCIT:C3513 NCIT:C7478 esophageal cancer -MONDO:0019104 Sandifer syndrome MONDO:0002254 NCIT:C113397 NCIT:C28193 syndromic disease -MONDO:0019121 pneumocystosis MONDO:0005249 NCIT:C3334 NCIT:C3333 pneumonia -MONDO:0019124 microscopic polyangiitis MONDO:0043494 NCIT:C70549 NCIT:C34399 arteritis MONDO:0019134 central neurocytoma MONDO:0002682 NCIT:C3791 NCIT:C2937 cerebral ventricle cancer MONDO:0019134 central neurocytoma MONDO:0016729 NCIT:C3791 NCIT:C4747 mixed neuronal-glial tumor -MONDO:0019157 myelodysplastic syndrome with ring sideroblasts MONDO:0018881 NCIT:C4036 NCIT:C3247 myelodysplastic syndrome -MONDO:0019170 polyarteritis nodosa MONDO:0043494 NCIT:C26847 NCIT:C34399 arteritis -MONDO:0019173 rabies MONDO:0005108 NCIT:C28182 NCIT:C3439 viral infectious disease -MONDO:0019175 primary lymphedema MONDO:0019297 NCIT:C48829 NCIT:C3207 lymphedema -MONDO:0019180 hereditary hemorrhagic telangiectasia MONDO:0001576 NCIT:C35064 NCIT:C28194 telangiectasis -MONDO:0019187 Axenfeld-Rieger syndrome MONDO:0002254 NCIT:C131001 NCIT:C28193 syndromic disease -MONDO:0019193 acquired generalized lipodystrophy MONDO:0027766 NCIT:C131089 NCIT:C131815 generalized lipodystrophy -MONDO:0019194 localized lipodystrophy MONDO:0006573 NCIT:C131814 NCIT:C97093 lipodystrophy -MONDO:0019203 acute interstitial pneumonia MONDO:0002429 NCIT:C35806 NCIT:C35714 idiopathic interstitial pneumonia -MONDO:0019209 Japanese encephalitis MONDO:0020601 NCIT:C34577 NCIT:C34823 mosquito-borne viral encephalitis MONDO:0019210 cutaneous neuroendocrine carcinoma MONDO:0002656 NCIT:C9231 NCIT:C4914 skin carcinoma MONDO:0019210 cutaneous neuroendocrine carcinoma MONDO:0003363 NCIT:C9231 NCIT:C4574 malignant dermis tumor -MONDO:0019234 peroxisome biogenesis disorder MONDO:0019046 NCIT:C155747 NCIT:C61253 leukodystrophy -MONDO:0019249 mucopolysaccharidosis MONDO:0002561 NCIT:C61259 NCIT:C61250 lysosomal storage disease -MONDO:0019249 mucopolysaccharidosis MONDO:0019214 NCIT:C61259 NCIT:C97089 inborn carbohydrate metabolic disorder -MONDO:0019287 ectodermal dysplasia syndrome MONDO:0002254 NCIT:C84683 NCIT:C28193 syndromic disease -MONDO:0019293 skin vascular disease MONDO:0005093 NCIT:C35254 NCIT:C3371 skin disorder -MONDO:0019293 skin vascular disease MONDO:0005385 NCIT:C35254 NCIT:C35117 vascular disorder MONDO:0019328 macrocystic lymphatic malformation MONDO:0002013 NCIT:C53316 NCIT:C8965 lymphangioma -MONDO:0019336 Gardner syndrome MONDO:0021055 NCIT:C6728 NCIT:C3339 classic familial adenomatous polyposis -MONDO:0019340 scleroderma MONDO:0005554 NCIT:C26746 NCIT:C27204 rheumatic disorder -MONDO:0019340 scleroderma MONDO:0007179 NCIT:C26746 NCIT:C2889 autoimmune disease -MONDO:0019342 Seckel syndrome MONDO:0002254 NCIT:C125488 NCIT:C28193 syndromic disease -MONDO:0019349 Sotos syndrome MONDO:0002254 NCIT:C75019 NCIT:C28193 syndromic disease -MONDO:0019354 Stickler syndrome MONDO:0002254 NCIT:C74984 NCIT:C28193 syndromic disease MONDO:0019373 desmoplastic small round cell tumor MONDO:0006974 NCIT:C8300 NCIT:C3746 small cell sarcoma MONDO:0019373 desmoplastic small round cell tumor MONDO:0018078 NCIT:C8300 NCIT:C9306 soft tissue sarcoma -MONDO:0019384 encephalitis lethargica MONDO:0006009 NCIT:C26761 NCIT:C35302 viral encephalitis -MONDO:0019384 encephalitis lethargica MONDO:0006009 NCIT:C34576 NCIT:C35302 viral encephalitis -MONDO:0019390 Susac syndrome MONDO:0002254 NCIT:C116363 NCIT:C28193 syndromic disease -MONDO:0019390 Susac syndrome MONDO:0007179 NCIT:C116363 NCIT:C2889 autoimmune disease -MONDO:0019391 Fanconi anemia MONDO:0021190 NCIT:C62505 NCIT:C7757 DNA repair disease MONDO:0019392 syringocystadenoma papilliferum MONDO:0021110 NCIT:C4172 NCIT:C7560 sweat gland adenoma -MONDO:0019402 beta thalassemia MONDO:0000984 NCIT:C34375 NCIT:C35069 thalassemia MONDO:0019404 perineurioma MONDO:0002547 NCIT:C4973 NCIT:C4972 nerve sheath neoplasm -MONDO:0019409 idiopathic juvenile osteoporosis MONDO:0005298 NCIT:C119996 NCIT:C3298 osteoporosis -MONDO:0019433 oligoarticular juvenile idiopathic arthritis MONDO:0011429 NCIT:C119032 NCIT:C114357 juvenile idiopathic arthritis -MONDO:0019434 systemic-onset juvenile idiopathic arthritis MONDO:0011429 NCIT:C119031 NCIT:C114357 juvenile idiopathic arthritis -MONDO:0019436 psoriasis-related juvenile idiopathic arthritis MONDO:0011849 NCIT:C114361 NCIT:C61277 psoriatic arthritis -MONDO:0019437 enthesitis-related juvenile idiopathic arthritis MONDO:0011429 NCIT:C119024 NCIT:C114357 juvenile idiopathic arthritis -MONDO:0019439 AA amyloidosis MONDO:0019065 NCIT:C3818 NCIT:C2868 amyloidosis MONDO:0019451 chronic neutrophilic leukemia MONDO:0001014 NCIT:C3179 NCIT:C3483 chronic leukemia MONDO:0019451 chronic neutrophilic leukemia MONDO:0020076 NCIT:C3179 NCIT:C4345 myeloproliferative neoplasm MONDO:0019452 myeloproliferative neoplasm, unclassifiable MONDO:0020076 NCIT:C27350 NCIT:C4345 myeloproliferative neoplasm -MONDO:0019453 myelodysplastic syndrome with multilineage dysplasia MONDO:0018881 NCIT:C8574 NCIT:C3247 myelodysplastic syndrome MONDO:0019454 myelodysplastic syndrome with excess blasts MONDO:0018881 NCIT:C7506 NCIT:C3247 myelodysplastic syndrome MONDO:0019455 acute panmyelosis with myelofibrosis MONDO:0015667 NCIT:C4344 NCIT:C27753 acute myeloid leukemia by FAB classification MONDO:0019457 therapy related acute myeloid leukemia and myelodysplastic syndrome MONDO:0018874 NCIT:C25765 NCIT:C3171 acute myeloid leukemia @@ -4779,8 +3215,6 @@ MONDO:0019461 B-cell prolymphocytic leukemia MONDO:0001023 NCIT:C4753 NCIT:C3181 MONDO:0019461 B-cell prolymphocytic leukemia MONDO:0004949 NCIT:C4753 NCIT:C27910 neoplasm of mature B-cells MONDO:0019462 splenic marginal zone lymphoma MONDO:0017604 NCIT:C4663 NCIT:C4341 marginal zone lymphoma MONDO:0019465 nodal marginal zone B-cell lymphoma MONDO:0017604 NCIT:C8863 NCIT:C4341 marginal zone lymphoma -MONDO:0019467 CD4+/CD56+ hematodermic neoplasm MONDO:0002898 NCIT:C7203 NCIT:C2920 skin cancer -MONDO:0019467 CD4+/CD56+ hematodermic neoplasm MONDO:0005170 NCIT:C7203 NCIT:C9290 myeloid neoplasm MONDO:0019468 T-cell prolymphocytic leukemia MONDO:0001023 NCIT:C4752 NCIT:C3181 prolymphocytic leukemia MONDO:0019469 T-cell large granular lymphocyte leukemia MONDO:0001014 NCIT:C4664 NCIT:C3483 chronic leukemia MONDO:0019469 T-cell large granular lymphocyte leukemia MONDO:0005402 NCIT:C4664 NCIT:C7539 lymphoid leukemia @@ -4788,69 +3222,18 @@ MONDO:0019470 aggressive NK-cell leukemia MONDO:0001014 NCIT:C8647 NCIT:C3483 ch MONDO:0019478 adult nodular lymphocyte predominant Hodgkin lymphoma MONDO:0044778 NCIT:C7942 NCIT:C7258 nodular lymphocyte predominant Hodgkin lymphoma MONDO:0019479 histiocytic sarcoma MONDO:0006247 NCIT:C27349 NCIT:C9294 histiocytic and dendritic cell neoplasm MONDO:0019496 neuroendocrine neoplasm MONDO:0002082 NCIT:C3809 NCIT:C3010 endocrine gland neoplasm -MONDO:0019499 Turner syndrome MONDO:0001967 NCIT:C26900 NCIT:C61420 gonadal dysgenesis -MONDO:0019501 Usher syndrome MONDO:0002254 NCIT:C85217 NCIT:C28193 syndromic disease -MONDO:0019508 van der Woude syndrome MONDO:0002254 NCIT:C74986 NCIT:C28193 syndromic disease -MONDO:0019514 hepatic veno-occlusive disease MONDO:0002405 NCIT:C26793 NCIT:C35442 hepatic vascular disorder -MONDO:0019517 Waardenburg syndrome type 2 MONDO:0018094 NCIT:C75009 NCIT:C85222 Waardenburg syndrome -MONDO:0019518 Waardenburg-Shah syndrome MONDO:0018094 NCIT:C124842 NCIT:C85222 Waardenburg syndrome -MONDO:0019527 undifferentiated connective tissue syndrome MONDO:0007179 NCIT:C116776 NCIT:C2889 autoimmune disease -MONDO:0019532 autoimmune hemolytic anemia, warm type MONDO:0020108 NCIT:C162611 NCIT:C34378 autoimmune hemolytic anemia -MONDO:0019537 hemoglobin D disease MONDO:0019050 NCIT:C35344 NCIT:C3092 inherited hemoglobinopathy -MONDO:0019542 acute liver failure MONDO:0100192 NCIT:C84396 NCIT:C26922 liver failure -MONDO:0019562 localized scleroderma MONDO:0019340 NCIT:C72069 NCIT:C26746 scleroderma -MONDO:0019563 CREST syndrome MONDO:0002254 NCIT:C70646 NCIT:C28193 syndromic disease -MONDO:0019569 Cockayne syndrome type 1 MONDO:0016006 NCIT:C135725 NCIT:C9460 Cockayne syndrome -MONDO:0019570 Cockayne syndrome type 2 MONDO:0016006 NCIT:C135726 NCIT:C9460 Cockayne syndrome -MONDO:0019600 xeroderma pigmentosum MONDO:0021190 NCIT:C3452 NCIT:C7757 DNA repair disease -MONDO:0019609 Zellweger spectrum disorders MONDO:0019234 NCIT:C85239 NCIT:C146639 peroxisome biogenesis disorder MONDO:0019613 non-functioning pituitary adenoma MONDO:0006373 NCIT:C4348 NCIT:C3329 pituitary gland adenoma -MONDO:0019618 Sheehan syndrome MONDO:0002254 NCIT:C35300 NCIT:C28193 syndromic disease -MONDO:0019622 non-specific interstitial pneumonia MONDO:0002429 NCIT:C35717 NCIT:C35714 idiopathic interstitial pneumonia -MONDO:0019636 renal agenesis, unilateral MONDO:0018470 NCIT:C101220 NCIT:C99041 renal agenesis MONDO:0019665 monostotic fibrous dysplasia MONDO:0000845 NCIT:C53971 NCIT:C34609 fibrous dysplasia -MONDO:0019734 juvenile polymyositis MONDO:0019127 NCIT:C114358 NCIT:C26925 polymyositis -MONDO:0019735 polymyalgia rheumatica MONDO:0002254 NCIT:C85018 NCIT:C28193 syndromic disease -MONDO:0019735 polymyalgia rheumatica MONDO:0005554 NCIT:C85018 NCIT:C27204 rheumatic disorder -MONDO:0019737 thrombotic microangiopathy MONDO:0001531 NCIT:C62605 NCIT:C2902 blood coagulation disease -MONDO:0019740 acquired thrombotic thrombocytopenic purpura MONDO:0018896 NCIT:C131653 NCIT:C78797 thrombotic thrombocytopenic purpura -MONDO:0019751 autoinflammatory syndrome MONDO:0002254 NCIT:C119050 NCIT:C28193 syndromic disease -MONDO:0019753 localized Castleman disease MONDO:0015564 NCIT:C115200 NCIT:C3056 Castleman disease -MONDO:0019754 multicentric Castleman disease MONDO:0015564 NCIT:C27855 NCIT:C3056 Castleman disease MONDO:0019781 astrocytoma (excluding glioblastoma) MONDO:0021636 NCIT:C60781 NCIT:C6958 astrocytic tumor -MONDO:0019787 autoimmune enteropathy MONDO:0020598 NCIT:C94694 NCIT:C3214 malabsorption syndrome -MONDO:0019790 neuroleptic malignant syndrome MONDO:0002254 NCIT:C94829 NCIT:C28193 syndromic disease MONDO:0019803 angioma serpiginosum MONDO:0003110 NCIT:C3926 NCIT:C4905 skin hemangioma -MONDO:0019808 aortic valve atresia MONDO:0005453 NCIT:C98818 NCIT:C95834 congenital heart disease -MONDO:0019809 congenital aortic valve insufficiency MONDO:0005648 NCIT:C103936 NCIT:C51223 aortic valve insufficiency -MONDO:0019828 pituitary stalk interruption syndrome MONDO:0002254 NCIT:C121150 NCIT:C28193 syndromic disease -MONDO:0019928 48,XXXY syndrome MONDO:0002254 NCIT:C89799 NCIT:C28193 syndromic disease -MONDO:0019929 49,XXXXY syndrome MONDO:0002254 NCIT:C185635 NCIT:C28193 syndromic disease -MONDO:0019944 Eisenmenger syndrome MONDO:0002254 NCIT:C84390 NCIT:C28193 syndromic disease MONDO:0019954 pancreatic neuroendocrine tumor MONDO:0000386 NCIT:C27720 NCIT:C95404 digestive system neuroendocrine tumor, grade 1/2 MONDO:0019954 pancreatic neuroendocrine tumor MONDO:0005815 NCIT:C27720 NCIT:C27031 pancreatic neuroendocrine neoplasm MONDO:0019962 thyroid lymphoma MONDO:0002108 NCIT:C5265 NCIT:C7510 thyroid cancer MONDO:0019962 thyroid lymphoma MONDO:0017207 NCIT:C5265 NCIT:C7185 primary organ-specific lymphoma -MONDO:0019978 Robinow syndrome MONDO:0002254 NCIT:C85048 NCIT:C28193 syndromic disease -MONDO:0019991 immunotactoid glomerulopathy MONDO:0002462 NCIT:C158968 NCIT:C26784 glomerulonephritis -MONDO:0019991 immunotactoid glomerulopathy MONDO:0002462 NCIT:C96182 NCIT:C26784 glomerulonephritis -MONDO:0020040 46,XY disorder of sex development MONDO:0002145 NCIT:C127171 NCIT:C103186 disorder of sexual differentiation -MONDO:0020066 Ehlers-Danlos syndrome MONDO:0002254 NCIT:C34568 NCIT:C28193 syndromic disease -MONDO:0020067 infectious encephalitis MONDO:0019956 NCIT:C79550 NCIT:C26760 encephalitis -MONDO:0020067 infectious encephalitis MONDO:0024619 NCIT:C79550 NCIT:C27582 central nervous system infectious disorder MONDO:0020076 myeloproliferative neoplasm MONDO:0005170 NCIT:C4345 NCIT:C9290 myeloid neoplasm MONDO:0020076 myeloproliferative neoplasm MONDO:0021138 NCIT:C4345 NCIT:C35501 bone marrow cancer -MONDO:0020088 familial partial lipodystrophy MONDO:0027767 NCIT:C84708 NCIT:C131296 partial lipodystrophy -MONDO:0020121 muscular dystrophy MONDO:0005336 NCIT:C84910 NCIT:C101216 myopathy -MONDO:0020123 metabolic myopathy MONDO:0005336 NCIT:C98985 NCIT:C101216 myopathy MONDO:0020204 conjunctival tumor MONDO:0006170 NCIT:C2961 NCIT:C27605 conjunctival disorder MONDO:0020204 conjunctival tumor MONDO:0021220 NCIT:C2961 NCIT:C3030 eye neoplasm -MONDO:0020242 hereditary macular dystrophy MONDO:0019118 NCIT:C140264 NCIT:C35625 inherited retinal dystrophy -MONDO:0020250 autosomal dominant optic atrophy MONDO:0043878 NCIT:C84577 NCIT:C34864 hereditary optic atrophy -MONDO:0020290 familial atrioventricular septal defect MONDO:0002078 NCIT:C101029 NCIT:C84482 heart septal defect -MONDO:0020291 hypoplastic right heart syndrome MONDO:0002254 NCIT:C99053 NCIT:C28193 syndromic disease -MONDO:0020295 congenital pulmonary veins anomaly MONDO:0005453 NCIT:C110942 NCIT:C95834 congenital heart disease -MONDO:0020296 congenital arteriovenous fistula MONDO:0024239 NCIT:C35377 NCIT:C35729 congenital anomaly of cardiovascular system MONDO:0020311 chronic myelomonocytic leukemia MONDO:0006311 NCIT:C3178 NCIT:C27262 myelodysplastic/myeloproliferative neoplasm MONDO:0020320 acute myeloblastic leukemia with maturation MONDO:0015667 NCIT:C3250 NCIT:C27753 acute myeloid leukemia by FAB classification MONDO:0020321 acute undifferentiated leukemia MONDO:0019460 NCIT:C9298 NCIT:C7464 acute leukemia of ambiguous lineage @@ -4859,26 +3242,13 @@ MONDO:0020323 primary mediastinal large B-cell lymphoma MONDO:0000951 NCIT:C9280 MONDO:0020323 primary mediastinal large B-cell lymphoma MONDO:0018905 NCIT:C9280 NCIT:C8851 diffuse large B-cell lymphoma MONDO:0020324 intravascular large B-cell lymphoma MONDO:0018905 NCIT:C4342 NCIT:C8851 diffuse large B-cell lymphoma MONDO:0020325 anaplastic large cell lymphoma MONDO:0000430 NCIT:C3720 NCIT:C3468 mature T-cell and NK-cell non-Hodgkin lymphoma -MONDO:0020334 mast cell leukemia MONDO:0005059 NCIT:C3169 NCIT:C3161 leukemia -MONDO:0020338 adult pure red cell aplasia MONDO:0001705 NCIT:C70548 NCIT:C34974 pure red-cell aplasia -MONDO:0020347 acute inflammatory demyelinating polyradiculoneuropathy MONDO:0016218 NCIT:C116926 NCIT:C116345 Guillain-Barre syndrome -MONDO:0020348 acute motor and sensory axonal neuropathy MONDO:0016218 NCIT:C116927 NCIT:C116345 Guillain-Barre syndrome -MONDO:0020349 acute motor axonal neuropathy MONDO:0016218 NCIT:C116929 NCIT:C116345 Guillain-Barre syndrome -MONDO:0020404 shone complex MONDO:0002254 NCIT:C99058 NCIT:C28193 syndromic disease -MONDO:0020481 myotonia fluctuans MONDO:0018959 NCIT:C122789 NCIT:C122788 potassium-aggravated myotonia -MONDO:0020487 Pontiac fever MONDO:0005823 NCIT:C128335 NCIT:C128334 legionellosis -MONDO:0020491 subcortical band heterotopia MONDO:0002254 NCIT:C116933 NCIT:C28193 syndromic disease -MONDO:0020501 Crimean-Congo hemorrhagic fever MONDO:0018087 NCIT:C34682 NCIT:C36170 viral hemorrhagic fever +MONDO:0020331 indolent systemic mastocytosis MONDO:0016586 NCIT:C9286 NCIT:C9235 systemic mastocytosis MONDO:0020511 precursor B-cell acute lymphoblastic leukemia MONDO:0004967 NCIT:C8644 NCIT:C3167 acute lymphoblastic leukemia MONDO:0020516 thymic neuroendocrine carcinoma MONDO:0006451 NCIT:C171031 NCIT:C7569 thymic carcinoma -MONDO:0020525 transient neonatal diabetes mellitus MONDO:0016391 NCIT:C114899 NCIT:C99248 neonatal diabetes mellitus MONDO:0020540 ovarian gynandroblastoma MONDO:0021657 NCIT:C3072 NCIT:C4862 ovarian sex cord-stromal tumor MONDO:0020541 maligant granulosa cell tumor of ovary MONDO:0018172 NCIT:C8403 NCIT:C8053 malignant sex cord stromal tumor of ovary MONDO:0020541 maligant granulosa cell tumor of ovary MONDO:0023283 NCIT:C8403 NCIT:C6261 ovarian granulosa cell tumor -MONDO:0020546 acute graft versus host disease MONDO:0013730 NCIT:C4980 NCIT:C3063 graft versus host disease -MONDO:0020547 chronic graft versus host disease MONDO:0013730 NCIT:C4981 NCIT:C3063 graft versus host disease MONDO:0020549 invasive hydatidiform mole MONDO:0006248 NCIT:C6985 NCIT:C3110 hydatidiform mole -MONDO:0020550 gestational choriocarcinoma MONDO:0001416 NCIT:C4646 NCIT:C4913 female reproductive organ cancer MONDO:0020550 gestational choriocarcinoma MONDO:0005207 NCIT:C4646 NCIT:C2948 choriocarcinoma MONDO:0020550 gestational choriocarcinoma MONDO:0018944 NCIT:C4646 NCIT:C4699 gestational trophoblastic neoplasm MONDO:0020552 placental site trophoblastic tumor MONDO:0018944 NCIT:C3757 NCIT:C4699 gestational trophoblastic neoplasm @@ -4888,40 +3258,23 @@ MONDO:0020557 pleuropulmonary blastoma type 3 MONDO:0011014 NCIT:C45628 NCIT:C56 MONDO:0020560 atypical teratoid rhabdoid tumor MONDO:0002728 NCIT:C6906 NCIT:C3808 rhabdoid tumor MONDO:0020562 pleomorphic liposarcoma MONDO:0005060 NCIT:C3705 NCIT:C3194 liposarcoma MONDO:0020563 dedifferentiated liposarcoma MONDO:0005060 NCIT:C3704 NCIT:C3194 liposarcoma -MONDO:0020572 complex regional pain syndrome type 2 MONDO:0002254 NCIT:C121572 NCIT:C28193 syndromic disease MONDO:0020574 central nervous system nongerminomatous germ cell tumor MONDO:0003000 NCIT:C100093 NCIT:C5461 central nervous system germ cell tumor -MONDO:0020575 polymorphic ventricular tachycardia MONDO:0005477 NCIT:C111648 NCIT:C50802 ventricular tachycardia -MONDO:0020576 cutaneous vasculitis MONDO:0018882 NCIT:C112210 NCIT:C26912 vasculitis -MONDO:0020579 mucositis MONDO:0021166 NCIT:C115965 NCIT:C93210 inflammatory disease MONDO:0020580 germinomatous germ cell tumor MONDO:0005040 NCIT:C121618 NCIT:C3708 germ cell tumor MONDO:0020581 benign PEComa MONDO:0006359 NCIT:C121791 NCIT:C38150 neoplasm with perivascular epithelioid cell differentiation MONDO:0020582 benign uterine ligament neoplasm MONDO:0021629 NCIT:C126493 NCIT:C40133 uterine ligament neoplasm -MONDO:0020584 anemia due to enzyme disorder MONDO:0002280 NCIT:C35472 NCIT:C2869 anemia -MONDO:0020585 anemia due to erythrocyte enzyme disorder MONDO:0020584 NCIT:C131630 NCIT:C35472 anemia due to enzyme disorder -MONDO:0020586 factor V deficiency MONDO:0002242 NCIT:C131738 NCIT:C27215 coagulation protein disease -MONDO:0020587 factor XI deficiency MONDO:0018660 NCIT:C131739 NCIT:C3093 hemophilia MONDO:0020588 lung PEComa MONDO:0006359 NCIT:C142783 NCIT:C38150 neoplasm with perivascular epithelioid cell differentiation MONDO:0020589 cardiac germ cell tumor MONDO:0018201 NCIT:C147005 NCIT:C3918 extragonadal germ cell tumor MONDO:0020589 cardiac germ cell tumor MONDO:0021209 NCIT:C147005 NCIT:C3081 heart neoplasm -MONDO:0020590 mycobacterial infectious disease MONDO:0005113 NCIT:C26831 NCIT:C2890 bacterial infectious disease -MONDO:0020592 disorder of pharynx MONDO:0024623 NCIT:C26850 NCIT:C118420 otorhinolaryngologic disease -MONDO:0020594 abducens nerve disorder MONDO:0003569 NCIT:C27593 NCIT:C26733 cranial nerve neuropathy MONDO:0020596 mucin-producing carcinoma MONDO:0004993 NCIT:C27825 NCIT:C2916 carcinoma -MONDO:0020599 acquired coagulation factor deficiency MONDO:0002242 NCIT:C34347 NCIT:C27215 coagulation protein disease -MONDO:0020600 acute pharyngitis MONDO:0002258 NCIT:C34355 NCIT:C26851 pharyngitis -MONDO:0020601 mosquito-borne viral encephalitis MONDO:0006009 NCIT:C34823 NCIT:C35302 viral encephalitis MONDO:0020633 anaplastic cancer MONDO:0004992 NCIT:C36025 NCIT:C9305 cancer MONDO:0020634 grade III meningioma MONDO:0016642 NCIT:C38938 NCIT:C3230 meningioma MONDO:0020635 anaplastic meningioma MONDO:0020633 NCIT:C4051 NCIT:C36025 anaplastic cancer MONDO:0020635 anaplastic meningioma MONDO:0020634 NCIT:C4051 NCIT:C38938 grade III meningioma MONDO:0020638 superficial spreading melanoma MONDO:0005012 NCIT:C9152 NCIT:C3510 cutaneous melanoma -MONDO:0020640 autoimmune encephalitis MONDO:0019956 NCIT:C122414 NCIT:C26760 encephalitis MONDO:0020641 respiratory tract neoplasm MONDO:0005087 NCIT:C3355 NCIT:C26871 respiratory system disorder MONDO:0020644 lung non-Hodgkin lymphoma MONDO:0003987 NCIT:C5684 NCIT:C4794 lung lymphoma MONDO:0020644 lung non-Hodgkin lymphoma MONDO:0018908 NCIT:C5684 NCIT:C3211 non-Hodgkin lymphoma -MONDO:0020645 autosomal dominant osteopetrosis MONDO:0017198 NCIT:C129732 NCIT:C26840 osteopetrosis MONDO:0020646 ocular adnexal lymphoma MONDO:0018908 NCIT:C88145 NCIT:C3211 non-Hodgkin lymphoma -MONDO:0020649 warty carcinoma of the penis MONDO:0004433 NCIT:C6981 NCIT:C6983 papillary carcinoma of the penis MONDO:0020649 warty carcinoma of the penis MONDO:0020656 NCIT:C6981 NCIT:C27682 human papillomavirus-related penile squamous cell carcinoma MONDO:0020653 vaginal adenocarcinoma MONDO:0001704 NCIT:C7981 NCIT:C40250 vaginal glandular neoplasm MONDO:0020653 vaginal adenocarcinoma MONDO:0004970 NCIT:C7981 NCIT:C2852 adenocarcinoma @@ -4935,41 +3288,23 @@ MONDO:0020662 borderline ovarian serous tumor MONDO:0016093 NCIT:C5226 NCIT:C478 MONDO:0020662 borderline ovarian serous tumor MONDO:0037255 NCIT:C5226 NCIT:C8431 ovarian serous tumor MONDO:0020663 malignant spindle cell neoplasm MONDO:0020664 NCIT:C27091 NCIT:C27263 spindle cell neoplasm MONDO:0020669 paranasal sinus cancer MONDO:0005289 NCIT:C7487 NCIT:C7488 paranasal sinus neoplasm -MONDO:0020673 arterial occlusion MONDO:0000473 NCIT:C35318 NCIT:C35317 arterial disorder -MONDO:0020678 sensorineural hearing loss disorder MONDO:0005365 NCIT:C26739 NCIT:C35731 hearing loss disorder -MONDO:0020679 conductive hearing loss disorder MONDO:0005365 NCIT:C27645 NCIT:C35731 hearing loss disorder -MONDO:0020680 acute bronchiolitis MONDO:0002465 NCIT:C39659 NCIT:C39658 bronchiolitis -MONDO:0020686 acute tonsillitis MONDO:0001039 NCIT:C97142 NCIT:C116006 tonsillitis MONDO:0020690 adult glioblastoma MONDO:0004320 NCIT:C9094 NCIT:C8289 adult infiltrating astrocytic neoplasm MONDO:0020690 adult glioblastoma MONDO:0018177 NCIT:C9094 NCIT:C3058 glioblastoma MONDO:0020694 salivary gland epithelial myoepithelial carcinoma MONDO:0000521 NCIT:C35701 NCIT:C9272 salivary gland carcinoma MONDO:0020694 salivary gland epithelial myoepithelial carcinoma MONDO:0003389 NCIT:C35701 NCIT:C4199 epithelial-myoepithelial carcinoma -MONDO:0020695 hypotonic cerebral palsy MONDO:0006497 NCIT:C116906 NCIT:C34460 cerebral palsy -MONDO:0020696 vitamin B12 deficiency MONDO:0042976 NCIT:C131684 NCIT:C35129 vitamin B deficiency MONDO:0020697 lung epithelial-myoepithelial carcinoma MONDO:0003389 NCIT:C45545 NCIT:C4199 epithelial-myoepithelial carcinoma MONDO:0020697 lung epithelial-myoepithelial carcinoma MONDO:0005138 NCIT:C45545 NCIT:C4878 lung carcinoma -MONDO:0020706 Heberden's node MONDO:0002181 NCIT:C34671 NCIT:C3029 exostosis -MONDO:0020707 central hearing loss MONDO:0005365 NCIT:C34662 NCIT:C35731 hearing loss disorder -MONDO:0020708 brachial amyotrophic diplegia MONDO:0005559 NCIT:C133085 NCIT:C4802 neurodegenerative disease -MONDO:0020725 anemia due to chronic disorder MONDO:0002280 NCIT:C35659 NCIT:C2869 anemia -MONDO:0020731 arbovirus infection MONDO:0005108 NCIT:C34396 NCIT:C3439 viral infectious disease -MONDO:0020740 ectodermal dysplasia and immunodeficiency 1 MONDO:0010293 NCIT:C176592 NCIT:C118844 ectodermal dysplasia and immune deficiency MONDO:0020743 mixed phenotype acute leukemia MONDO:0019460 NCIT:C82179 NCIT:C7464 acute leukemia of ambiguous lineage -MONDO:0020744 Mobitz type I atrioventricular block MONDO:0000467 NCIT:C62017 NCIT:C111119 second-degree atrioventricular block MONDO:0020760 skin squamous cell carcinoma in situ MONDO:0002529 NCIT:C2906 NCIT:C4819 skin squamous cell carcinoma MONDO:0020760 skin squamous cell carcinoma in situ MONDO:0004641 NCIT:C2906 NCIT:C3640 skin carcinoma in situ MONDO:0020760 skin squamous cell carcinoma in situ MONDO:0004693 NCIT:C2906 NCIT:C27093 squamous carcinoma in situ MONDO:0020761 Bowen disease of the skin MONDO:0020760 NCIT:C62571 NCIT:C2906 skin squamous cell carcinoma in situ -MONDO:0020767 cauda equina syndrome with neurogenic bladder MONDO:0005693 NCIT:C34453 NCIT:C35436 cauda equina syndrome -MONDO:0020782 chronic gingivitis MONDO:0002508 NCIT:C34474 NCIT:C34636 gingivitis MONDO:0020794 colorectal medullary carcinoma MONDO:0005008 NCIT:C43590 NCIT:C5105 colorectal adenocarcinoma MONDO:0020799 basal cell neoplasm MONDO:0005626 NCIT:C3784 NCIT:C3709 epithelial neoplasm -MONDO:0020800 demyelinating disease of central nervous system MONDO:0002562 NCIT:C34526 NCIT:C34527 demyelinating disease MONDO:0020801 rectal medullary carcinoma MONDO:0002169 NCIT:C60640 NCIT:C9383 rectum adenocarcinoma MONDO:0020801 rectal medullary carcinoma MONDO:0020794 NCIT:C60640 NCIT:C43590 colorectal medullary carcinoma MONDO:0020804 basal cell carcinoma MONDO:0004993 NCIT:C156767 NCIT:C2916 carcinoma -MONDO:0020804 basal cell carcinoma MONDO:0020799 NCIT:C7586 NCIT:C3784 basal cell neoplasm -MONDO:0020805 benign basal cell neoplasm MONDO:0020799 NCIT:C4743 NCIT:C3784 basal cell neoplasm +MONDO:0020804 basal cell carcinoma MONDO:0020799 NCIT:C156767 NCIT:C3784 basal cell neoplasm MONDO:0020807 ovarian sertoli-stromal cell tumor MONDO:0021657 NCIT:C39966 NCIT:C4862 ovarian sex cord-stromal tumor MONDO:0020808 testicular sertoli cell tumor MONDO:0002696 NCIT:C4672 NCIT:C39976 Sertoli cell tumor MONDO:0020808 testicular sertoli cell tumor MONDO:0003125 NCIT:C4672 NCIT:C6358 testicular sex cord-stromal neoplasm @@ -4977,22 +3312,9 @@ MONDO:0020809 benign sertoli cell tumor MONDO:0002696 NCIT:C67012 NCIT:C39976 Se MONDO:0020813 benign testicular sertoli cell tumor MONDO:0020808 NCIT:C6522 NCIT:C4672 testicular sertoli cell tumor MONDO:0020813 benign testicular sertoli cell tumor MONDO:0020809 NCIT:C6522 NCIT:C67012 benign sertoli cell tumor MONDO:0020813 benign testicular sertoli cell tumor MONDO:0021447 NCIT:C6522 NCIT:C3612 benign neoplasm of testis -MONDO:0020838 anterior nasal diphtheria MONDO:0005504 NCIT:C34542 NCIT:C34541 diphtheria -MONDO:0020843 pseudomembranous diphtheritic conjunctivitis MONDO:0001217 NCIT:C34543 NCIT:C35196 pseudomembranous conjunctivitis -MONDO:0020920 escherichia coli infection MONDO:0005113 NCIT:C34594 NCIT:C2890 bacterial infectious disease -MONDO:0020971 gonococcal urethritis MONDO:0005297 NCIT:C26787 NCIT:C26904 urethritis -MONDO:0020977 granulomatous prostatitis MONDO:0005280 NCIT:C26789 NCIT:C26866 prostatitis -MONDO:0020979 pilosebaceous hamartoma MONDO:0021539 NCIT:C5565 NCIT:C5562 hamartoma of skin appendage -MONDO:0020980 hair nevus MONDO:0020979 NCIT:C3074 NCIT:C5565 pilosebaceous hamartoma -MONDO:0021001 hemochromatosis type 1 MONDO:0006507 NCIT:C84764 NCIT:C84481 hereditary hemochromatosis MONDO:0021009 salivary gland mucoepidermoid carcinoma MONDO:0000521 NCIT:C5908 NCIT:C9272 salivary gland carcinoma MONDO:0021010 skin lymphangiosarcoma MONDO:0006282 NCIT:C4490 NCIT:C3205 lymphangiosarcoma MONDO:0021010 skin lymphangiosarcoma MONDO:0006414 NCIT:C4490 NCIT:C5585 skin sarcoma -MONDO:0021013 trichothiodystrophy 4, nonphotosensitive MONDO:0018053 NCIT:C146899 NCIT:C4924 trichothiodystrophy -MONDO:0021019 X-linked recessive ocular albinism MONDO:0043209 NCIT:C118785 NCIT:C84543 albinism -MONDO:0021023 complete androgen insensitivity syndrome MONDO:0019154 NCIT:C120191 NCIT:C27226 androgen insensitivity syndrome -MONDO:0021032 herpes zoster with dermatitis of eyelid MONDO:0021033 NCIT:C34696 NCIT:C35619 herpes zoster dermatitis -MONDO:0021033 herpes zoster dermatitis MONDO:0021201 NCIT:C35619 NCIT:C35025 skin infection MONDO:0021038 Ewing sarcoma/peripheral primitive neuroectodermal tumor MONDO:0005564 NCIT:C27291 NCIT:C3264 embryonal neoplasm MONDO:0021039 extraskeletal Ewing sarcoma/peripheral primitive neuroectodermal tumor MONDO:0021038 NCIT:C27293 NCIT:C27291 Ewing sarcoma/peripheral primitive neuroectodermal tumor MONDO:0021040 pancreatic neoplasm MONDO:0002356 NCIT:C3305 NCIT:C26842 pancreas disorder @@ -5015,8 +3337,6 @@ MONDO:0021053 carotid body paraganglioma MONDO:0006239 NCIT:C2932 NCIT:C5327 hea MONDO:0021053 carotid body paraganglioma MONDO:0021052 NCIT:C2932 NCIT:C4217 parasympathetic paraganglioma MONDO:0021054 bone sarcoma MONDO:0002129 NCIT:C9312 NCIT:C4016 bone cancer MONDO:0021054 bone sarcoma MONDO:0005089 NCIT:C9312 NCIT:C9118 sarcoma -MONDO:0021060 RASopathy MONDO:0003847 NCIT:C179667 NCIT:C3101 hereditary disease -MONDO:0021061 neurofibromatosis MONDO:0042983 NCIT:C6727 NCIT:C84348 neurocutaneous syndrome MONDO:0021063 malignant colon neoplasm MONDO:0005401 NCIT:C9242 NCIT:C2953 colonic neoplasm MONDO:0021063 malignant colon neoplasm MONDO:0005575 NCIT:C9242 NCIT:C4978 colorectal cancer MONDO:0021064 jugulotympanic paraganglioma MONDO:0006239 NCIT:C3061 NCIT:C5327 head and neck paraganglioma @@ -5033,7 +3353,6 @@ MONDO:0021070 sublingual gland carcinoma MONDO:0004667 NCIT:C8397 NCIT:C3527 sub MONDO:0021070 sublingual gland carcinoma MONDO:0006284 NCIT:C8397 NCIT:C5907 major salivary gland carcinoma MONDO:0021071 laryngeal neoplasm MONDO:0004382 NCIT:C3156 NCIT:C26810 laryngeal disorder MONDO:0021072 sympathetic paraganglioma MONDO:0000448 NCIT:C4216 NCIT:C3308 paraganglioma -MONDO:0021073 paraneoplastic syndrome MONDO:0045054 NCIT:C3311 NCIT:C8278 cancer-related condition MONDO:0021075 neoplastic polyp MONDO:0005079 NCIT:C7068 NCIT:C3340 polyp MONDO:0021076 pancreatic exocrine neoplasm MONDO:0021040 NCIT:C4445 NCIT:C3305 pancreatic neoplasm MONDO:0021078 glandular papilloma MONDO:0002363 NCIT:C6880 NCIT:C7440 papilloma @@ -5049,7 +3368,6 @@ MONDO:0021091 papillary cystadenoma MONDO:0002369 NCIT:C2974 NCIT:C2972 cystaden MONDO:0021091 papillary cystadenoma MONDO:0006349 NCIT:C2974 NCIT:C4179 papillary cystic neoplasm MONDO:0021092 fallopian tube neoplasm MONDO:0002156 NCIT:C3032 NCIT:C26771 fallopian tube disorder MONDO:0021092 fallopian tube neoplasm MONDO:0021148 NCIT:C3032 NCIT:C3053 female reproductive system neoplasm -MONDO:0021094 immunodeficiency disease MONDO:0005046 NCIT:C3131 NCIT:C3507 immune system disorder MONDO:0021096 papillary epithelial neoplasm MONDO:0005626 NCIT:C8429 NCIT:C3709 epithelial neoplasm MONDO:0021097 intraductal breast papilloma MONDO:0000620 NCIT:C3863 NCIT:C4505 breast benign neoplasm MONDO:0021097 intraductal breast papilloma MONDO:0002060 NCIT:C3863 NCIT:C3785 intraductal papilloma @@ -5074,10 +3392,6 @@ MONDO:0021119 non-functioning endocrine neoplasm MONDO:0002082 NCIT:C94760 NCIT: MONDO:0021120 functioning endocrine neoplasm MONDO:0002082 NCIT:C94759 NCIT:C3010 endocrine gland neoplasm MONDO:0021121 hemangioendothelioma MONDO:0021080 NCIT:C3084 NCIT:C7387 blood vessel neoplasm MONDO:0021123 Ewing sarcoma/peripheral primitive neuroectodermal tumor of bone MONDO:0021038 NCIT:C35871 NCIT:C27291 Ewing sarcoma/peripheral primitive neuroectodermal tumor -MONDO:0021132 tertiary hyperparathyroidism MONDO:0001741 NCIT:C114821 NCIT:C48259 hyperparathyroidism -MONDO:0021133 acquired factor XIII deficiency MONDO:0020599 NCIT:C131629 NCIT:C34347 acquired coagulation factor deficiency -MONDO:0021134 acquired factor X deficiency MONDO:0002247 NCIT:C131626 NCIT:C131632 factor X deficiency -MONDO:0021134 acquired factor X deficiency MONDO:0020599 NCIT:C131626 NCIT:C34347 acquired coagulation factor deficiency MONDO:0021138 bone marrow cancer MONDO:0005374 NCIT:C35501 NCIT:C35370 bone marrow neoplasm MONDO:0021144 ovarian clear cell tumor MONDO:0002229 NCIT:C40076 NCIT:C4381 ovarian epithelial tumor MONDO:0021148 female reproductive system neoplasm MONDO:0002263 NCIT:C3053 NCIT:C27020 female reproductive system disorder @@ -5086,9 +3400,7 @@ MONDO:0021163 kidney neoplasm MONDO:0005240 NCIT:C3150 NCIT:C3149 kidney disorde MONDO:0021165 Paget disease MONDO:0004970 NCIT:C7073 NCIT:C2852 adenocarcinoma MONDO:0021168 hibernoma MONDO:0005106 NCIT:C3702 NCIT:C3192 lipoma MONDO:0021169 epithelioid hemangioma MONDO:0006500 NCIT:C4298 NCIT:C3085 hemangioma -MONDO:0021175 herpetic vulvovaginitis MONDO:0007019 NCIT:C34697 NCIT:C35131 vulvovaginitis MONDO:0021192 odontogenic neoplasm MONDO:0006999 NCIT:C3286 NCIT:C35077 tooth disorder -MONDO:0021205 disorder of ear MONDO:0024623 NCIT:C26757 NCIT:C118420 otorhinolaryngologic disease MONDO:0021209 heart neoplasm MONDO:0005267 NCIT:C3081 NCIT:C3079 heart disorder MONDO:0021209 heart neoplasm MONDO:0021350 NCIT:C3081 NCIT:C3406 neoplasm of thorax MONDO:0021209 heart neoplasm MONDO:0024757 NCIT:C3081 NCIT:C4784 cardiovascular neoplasm @@ -5118,7 +3430,6 @@ MONDO:0021237 adrenal medulla neoplasm MONDO:0021227 NCIT:C4856 NCIT:C2859 adren MONDO:0021238 cornea neoplasm MONDO:0000942 NCIT:C4361 NCIT:C26731 corneal disorder MONDO:0021238 cornea neoplasm MONDO:0021220 NCIT:C4361 NCIT:C3030 eye neoplasm MONDO:0021239 urethra neoplasm MONDO:0004184 NCIT:C3428 NCIT:C26903 urethral disorder -MONDO:0021239 urethra neoplasm MONDO:0021066 NCIT:C3428 NCIT:C3431 urinary system neoplasm MONDO:0021240 tongue neoplasm MONDO:0001165 NCIT:C3416 NCIT:C173793 tongue disorder MONDO:0021242 sublingual gland neoplasm MONDO:0021368 NCIT:C3392 NCIT:C4407 neoplasm of major salivary gland MONDO:0021243 parotid gland neoplasm MONDO:0021368 NCIT:C3314 NCIT:C4407 neoplasm of major salivary gland @@ -5206,7 +3517,6 @@ MONDO:0021370 neoplasm of minor salivary gland MONDO:0021357 NCIT:C4409 NCIT:C33 MONDO:0021372 neoplasm of temporal lobe MONDO:0021374 NCIT:C5567 NCIT:C4874 neoplasm of cerebral hemisphere MONDO:0021373 neoplasm of parietal lobe MONDO:0021374 NCIT:C5573 NCIT:C4874 neoplasm of cerebral hemisphere MONDO:0021375 tumor of duodenum MONDO:0004251 NCIT:C2995 NCIT:C4432 small intestine neoplasm -MONDO:0021377 hypertrophic lichen planus MONDO:0006572 NCIT:C34779 NCIT:C3189 lichen planus MONDO:0021378 neoplasm of endocardium MONDO:0021209 NCIT:C5346 NCIT:C3081 heart neoplasm MONDO:0021379 neoplasm of epicardium MONDO:0021209 NCIT:C5347 NCIT:C3081 heart neoplasm MONDO:0021380 neoplasm of myocardium MONDO:0021209 NCIT:C5349 NCIT:C3081 heart neoplasm @@ -5215,12 +3525,6 @@ MONDO:0021386 neoplasm of mediastinum MONDO:0021350 NCIT:C3221 NCIT:C3406 neopla MONDO:0021388 neoplasm of chest wall MONDO:0021350 NCIT:C4929 NCIT:C3406 neoplasm of thorax MONDO:0021389 neoplasm of aortic body MONDO:0021052 NCIT:C4218 NCIT:C4217 parasympathetic paraganglioma MONDO:0021390 polyp of ureter MONDO:0005079 NCIT:C4530 NCIT:C3340 polyp -MONDO:0021394 polyp of vagina MONDO:0005079 NCIT:C3664 NCIT:C3340 polyp -MONDO:0021396 polyp of vulva MONDO:0005079 NCIT:C3978 NCIT:C3340 polyp -MONDO:0021398 polyp of rectum MONDO:0021392 NCIT:C3351 NCIT:C5679 polyp of large intestine -MONDO:0021400 polyp of colon MONDO:0021392 NCIT:C2954 NCIT:C5679 polyp of large intestine -MONDO:0021416 polyp of gallbladder MONDO:0005281 NCIT:C3909 NCIT:C34631 gallbladder disorder -MONDO:0021420 polyp of vocal cord MONDO:0005079 NCIT:C3440 NCIT:C3340 polyp MONDO:0021424 hemangiopericytoma of skin MONDO:0005094 NCIT:C4492 NCIT:C3087 hemangiopericytoma MONDO:0021427 squamous cell carcinoma of lip MONDO:0021333 NCIT:C4042 NCIT:C3490 carcinoma of lip MONDO:0021429 squamous cell carcinoma of floor of mouth MONDO:0004958 NCIT:C4041 NCIT:C4833 oral cavity squamous cell carcinoma @@ -5271,7 +3575,6 @@ MONDO:0021470 benign neoplasm of pancreas MONDO:0000385 NCIT:C4612 NCIT:C4787 be MONDO:0021470 benign neoplasm of pancreas MONDO:0021040 NCIT:C4612 NCIT:C3305 pancreatic neoplasm MONDO:0021471 benign neoplasm of endometrium MONDO:0021251 NCIT:C4894 NCIT:C3012 endometrium neoplasm MONDO:0021472 benign neoplasm of scrotum MONDO:0003319 NCIT:C3615 NCIT:C4380 scrotum neoplasm -MONDO:0021473 benign neoplasm of epididymis MONDO:0000625 NCIT:C3614 NCIT:C4777 benign male reproductive system neoplasm MONDO:0021473 benign neoplasm of epididymis MONDO:0003283 NCIT:C3614 NCIT:C39958 epididymal neoplasm MONDO:0021474 benign neoplasm of ear MONDO:0021233 NCIT:C8417 NCIT:C3000 ear neoplasm MONDO:0021475 benign neoplasm of nasal cavity MONDO:0004756 NCIT:C4603 NCIT:C4413 nasal cavity neoplasm @@ -5351,7 +3654,6 @@ MONDO:0021534 rectal neuroendocrine tumor G1 MONDO:0015068 NCIT:C5547 NCIT:C1352 MONDO:0021535 pancreatic neuroendocrine tumor G1 MONDO:0019954 NCIT:C95584 NCIT:C27720 pancreatic neuroendocrine tumor MONDO:0021538 verrucous carcinoma of oral cavity MONDO:0004958 NCIT:C8174 NCIT:C4833 oral cavity squamous cell carcinoma MONDO:0021538 verrucous carcinoma of oral cavity MONDO:0006006 NCIT:C8174 NCIT:C3781 verrucous carcinoma -MONDO:0021539 hamartoma of skin appendage MONDO:0006499 NCIT:C5562 NCIT:C3075 hamartoma MONDO:0021542 hemangioma of choroid MONDO:0006500 NCIT:C4562 NCIT:C3085 hemangioma MONDO:0021542 hemangioma of choroid MONDO:0021487 NCIT:C4562 NCIT:C3625 benign neoplasm of choroid MONDO:0021543 hemangioma of gingiva MONDO:0006500 NCIT:C4831 NCIT:C3085 hemangioma @@ -5385,55 +3687,24 @@ MONDO:0021656 nongerminomatous germ cell tumor MONDO:0005040 NCIT:C121619 NCIT:C MONDO:0021657 ovarian sex cord-stromal tumor MONDO:0006055 NCIT:C4862 NCIT:C3794 sex cord-stromal tumor MONDO:0021657 ovarian sex cord-stromal tumor MONDO:0021068 NCIT:C4862 NCIT:C4984 ovarian neoplasm MONDO:0021659 combined carcinoid and adenocarcinoma MONDO:0004993 NCIT:C4139 NCIT:C2916 carcinoma -MONDO:0021661 coronary atherosclerosis MONDO:0005311 NCIT:C35505 NCIT:C35768 atherosclerosis MONDO:0021662 bile duct neoplasm MONDO:0002887 NCIT:C2898 NCIT:C96716 bile duct disorder MONDO:0021663 sarcomatoid squamous cell carcinoma MONDO:0005096 NCIT:C27084 NCIT:C2929 squamous cell carcinoma MONDO:0021663 sarcomatoid squamous cell carcinoma MONDO:0006406 NCIT:C27084 NCIT:C27004 sarcomatoid carcinoma -MONDO:0021681 sexually transmitted disease MONDO:0005550 NCIT:C3365 NCIT:C26726 infectious disease -MONDO:0021718 polyneuritis MONDO:0001824 NCIT:C26864 NCIT:C26951 polyneuropathy -MONDO:0021718 polyneuritis MONDO:0002122 NCIT:C26864 NCIT:C116381 neuritis -MONDO:0021736 proctosigmoiditis MONDO:0024278 NCIT:C34950 NCIT:C77952 proctocolitis -MONDO:0021777 acute rheumatic heart disease MONDO:0006955 NCIT:C34985 NCIT:C34882 rheumatic heart disease -MONDO:0021783 streptococcal sore throat MONDO:0002258 NCIT:C116003 NCIT:C26851 pharyngitis MONDO:0021812 adnexal spiradenoma/cylindroma of a sweat gland MONDO:0021489 NCIT:C27094 NCIT:C4879 benign neoplasm of sweat gland MONDO:0021879 small cell variant anaplastic large cell lymphoma MONDO:0020325 NCIT:C7208 NCIT:C3720 anaplastic large cell lymphoma -MONDO:0021895 temporomandibular joint dysfunction syndrome MONDO:0002254 NCIT:C35066 NCIT:C28193 syndromic disease -MONDO:0021915 arakawa syndrome 2 MONDO:0002254 NCIT:C99081 NCIT:C28193 syndromic disease -MONDO:0021953 tuberculous fibrosis of lung MONDO:0006052 NCIT:C35088 NCIT:C26899 pulmonary tuberculosis -MONDO:0022103 chronic prostatitis MONDO:0005280 NCIT:C26930 NCIT:C26866 prostatitis -MONDO:0022220 Parinaud syndrome MONDO:0002254 NCIT:C54102 NCIT:C28193 syndromic disease -MONDO:0022293 vascular disorder of penis MONDO:0002036 NCIT:C35218 NCIT:C26846 penile disorder -MONDO:0022293 vascular disorder of penis MONDO:0005385 NCIT:C35218 NCIT:C35117 vascular disorder -MONDO:0022435 Mauriac syndrome MONDO:0002254 NCIT:C130997 NCIT:C28193 syndromic disease MONDO:0022578 childhood bladder carcinoma MONDO:0004986 NCIT:C118816 NCIT:C4912 urinary bladder carcinoma MONDO:0022642 childhood carcinoid tumor MONDO:0005369 NCIT:C118810 NCIT:C2915 carcinoid tumor -MONDO:0022697 athetoid cerebral palsy MONDO:0006497 NCIT:C97169 NCIT:C34460 cerebral palsy -MONDO:0022735 choroid plexus cyst MONDO:0005262 NCIT:C4351 NCIT:C4657 central nervous system cyst MONDO:0022963 desmoplastic infantile astrocytoma MONDO:0016729 NCIT:C9476 NCIT:C4747 mixed neuronal-glial tumor MONDO:0022965 desmoplastic infantile ganglioglioma MONDO:0016729 NCIT:C4738 NCIT:C4747 mixed neuronal-glial tumor -MONDO:0022993 dipsogenic diabetes insipidus MONDO:0004782 NCIT:C129735 NCIT:C43263 diabetes insipidus -MONDO:0023023 neonatal dacryocystitis MONDO:0004926 NCIT:C116819 NCIT:C34521 dacryocystitis MONDO:0023122 familial prostate carcinoma MONDO:0005159 NCIT:C103817 NCIT:C4863 prostate carcinoma -MONDO:0023161 viral myocarditis MONDO:0004496 NCIT:C128381 NCIT:C34831 myocarditis -MONDO:0023164 viral pericarditis MONDO:0005904 NCIT:C128405 NCIT:C34915 pericarditis MONDO:0023206 functional pancreatic neuroendocrine tumor MONDO:0019954 NCIT:C45840 NCIT:C27720 pancreatic neuroendocrine tumor MONDO:0023206 functional pancreatic neuroendocrine tumor MONDO:0021120 NCIT:C45840 NCIT:C94759 functioning endocrine neoplasm -MONDO:0023232 giant cell myocarditis MONDO:0002815 NCIT:C97055 NCIT:C35206 acute myocarditis MONDO:0023273 pigmented dermatofibrosarcoma protuberans MONDO:0011934 NCIT:C9430 NCIT:C4683 dermatofibrosarcoma protuberans MONDO:0023283 ovarian granulosa cell tumor MONDO:0006036 NCIT:C6261 NCIT:C3070 granulosa cell tumor -MONDO:0023415 congenital candidiasis MONDO:0002026 NCIT:C116811 NCIT:C26711 candidiasis -MONDO:0023483 infectious myositis MONDO:0021167 NCIT:C26984 NCIT:C27578 myositis disease -MONDO:0023557 infective vaginitis MONDO:0002234 NCIT:C84353 NCIT:C26911 vaginitis -MONDO:0023595 congenital myotonic dystrophy MONDO:0016107 NCIT:C123308 NCIT:C84914 myotonic dystrophy MONDO:0023597 laryngeal papillomatosis MONDO:0018955 NCIT:C157733 NCIT:C128637 recurrent respiratory papillomatosis -MONDO:0023599 mesomelic dysplasia MONDO:0005516 NCIT:C121156 NCIT:C84978 osteochondrodysplasia -MONDO:0023601 non-classic congenital adrenal hyperplasia MONDO:0018479 NCIT:C131442 NCIT:C34360 congenital adrenal hyperplasia -MONDO:0023603 hereditary disorder of connective tissue MONDO:0003900 NCIT:C97075 NCIT:C26729 connective tissue disorder MONDO:0023644 lip and oral cavity carcinoma MONDO:0002038 NCIT:C9315 NCIT:C35850 head and neck carcinoma MONDO:0023726 mediastinal yolk sac tumor MONDO:0005744 NCIT:C6443 NCIT:C3011 yolk sac tumor -MONDO:0023865 corneal infection MONDO:0003085 NCIT:C83813 NCIT:C26805 keratitis MONDO:0024235 Brenner tumor MONDO:0037254 NCIT:C39954 NCIT:C6783 transitional cell neoplasm -MONDO:0024237 inherited neurodegenerative disorder MONDO:0005559 NCIT:C97073 NCIT:C4802 neurodegenerative disease MONDO:0024240 eccrine carcinoma MONDO:0005506 NCIT:C27255 NCIT:C5559 eccrine sweat gland cancer MONDO:0024240 eccrine carcinoma MONDO:0005524 NCIT:C27255 NCIT:C6938 sweat gland carcinoma MONDO:0024245 ductal eccrine adenocarcinoma MONDO:0024240 NCIT:C43345 NCIT:C27255 eccrine carcinoma @@ -5442,49 +3713,30 @@ MONDO:0024246 syringofibroadenoma MONDO:0024247 NCIT:C43356 NCIT:C6797 benign ec MONDO:0024247 benign eccrine neoplasm MONDO:0002090 NCIT:C6797 NCIT:C6796 eccrine sweat gland neoplasm MONDO:0024247 benign eccrine neoplasm MONDO:0021489 NCIT:C6797 NCIT:C4879 benign neoplasm of sweat gland MONDO:0024276 glandular cell neoplasm MONDO:0005626 NCIT:C7132 NCIT:C3709 epithelial neoplasm -MONDO:0024279 chronic endometritis MONDO:0000918 NCIT:C102820 NCIT:C26764 endometritis -MONDO:0024280 polyarticular arthritis MONDO:0005578 NCIT:C26996 NCIT:C2883 arthritic joint disease -MONDO:0024281 juvenile chronic polyarthritis MONDO:0024280 NCIT:C26979 NCIT:C26996 polyarticular arthritis MONDO:0024282 mucinous ovarian cancer MONDO:0003756 NCIT:C40033 NCIT:C5242 ovarian mucinous neoplasm MONDO:0024282 mucinous ovarian cancer MONDO:0018364 NCIT:C40033 NCIT:C40026 malignant epithelial tumor of ovary MONDO:0024286 benign blood vessel neoplasm MONDO:0021080 NCIT:C8537 NCIT:C7387 blood vessel neoplasm -MONDO:0024292 gastrointestinal polyp MONDO:0004335 NCIT:C35516 NCIT:C2990 digestive system disorder -MONDO:0024292 gastrointestinal polyp MONDO:0005079 NCIT:C35516 NCIT:C3340 polyp MONDO:0024296 vascular neoplasm MONDO:0024757 NCIT:C7388 NCIT:C4784 cardiovascular neoplasm -MONDO:0024300 hypophosphatemic rickets MONDO:0005520 NCIT:C131449 NCIT:C26878 rickets -MONDO:0024313 staphylococcal infection MONDO:0005113 NCIT:C35038 NCIT:C2890 bacterial infectious disease -MONDO:0024315 parasitic endophthalmitis MONDO:0016047 NCIT:C34587 NCIT:C34586 endophthalmitis -MONDO:0024316 physiological malfunction arising from mental factor MONDO:0003117 NCIT:C35186 NCIT:C34956 somatoform disorder MONDO:0024320 inner ear neoplasm MONDO:0002467 NCIT:C39784 NCIT:C27166 inner ear disorder MONDO:0024320 inner ear neoplasm MONDO:0021233 NCIT:C39784 NCIT:C3000 ear neoplasm MONDO:0024323 glomangiomyoma MONDO:0018327 NCIT:C4223 NCIT:C3060 glomus tumor MONDO:0024326 pleural adenomatoid tumor MONDO:0003308 NCIT:C4499 NCIT:C9351 pleural mesothelioma MONDO:0024326 pleural adenomatoid tumor MONDO:0004230 NCIT:C4499 NCIT:C3762 adenomatoid tumor MONDO:0024326 pleural adenomatoid tumor MONDO:0021457 NCIT:C4499 NCIT:C3603 benign neoplasm of pleura -MONDO:0024327 chronic renal failure syndrome MONDO:0001106 NCIT:C9438 NCIT:C4376 kidney failure -MONDO:0024327 chronic renal failure syndrome MONDO:0005300 NCIT:C9438 NCIT:C80078 chronic kidney disease -MONDO:0024330 infectious otitis media MONDO:0005441 NCIT:C84354 NCIT:C34885 otitis media -MONDO:0024330 infectious otitis media MONDO:0021666 NCIT:C84354 NCIT:C27193 ear infection MONDO:0024331 colorectal carcinoma MONDO:0005575 NCIT:C2955 NCIT:C4978 colorectal cancer MONDO:0024331 colorectal carcinoma MONDO:0006181 NCIT:C2955 NCIT:C96963 digestive system carcinoma -MONDO:0024332 perennial allergic rhinitis MONDO:0011786 NCIT:C92189 NCIT:C79532 allergic rhinitis MONDO:0024336 vulvar adenocarcinoma MONDO:0002198 NCIT:C6380 NCIT:C40292 vulvar glandular neoplasm MONDO:0024336 vulvar adenocarcinoma MONDO:0004970 NCIT:C6380 NCIT:C2852 adenocarcinoma MONDO:0024336 vulvar adenocarcinoma MONDO:0005215 NCIT:C6380 NCIT:C4866 vulvar carcinoma -MONDO:0024337 urothelial neoplasm MONDO:0021066 NCIT:C39852 NCIT:C3431 urinary system neoplasm MONDO:0024337 urothelial neoplasm MONDO:0037254 NCIT:C39852 NCIT:C6783 transitional cell neoplasm MONDO:0024338 mucinous neoplasm MONDO:0024276 NCIT:C7070 NCIT:C7132 glandular cell neoplasm MONDO:0024339 lymph node neoplasm MONDO:0002334 NCIT:C35497 NCIT:C35813 hematopoietic and lymphoid system neoplasm MONDO:0024339 lymph node neoplasm MONDO:0004928 NCIT:C35497 NCIT:C35346 lymph node disorder MONDO:0024340 retinal neuroblastoma MONDO:0005072 NCIT:C6956 NCIT:C3270 neuroblastoma MONDO:0024341 retinal cell neoplasm MONDO:0021231 NCIT:C7061 NCIT:C4800 retina neoplasm -MONDO:0024352 viral respiratory tract infection MONDO:0005108 NCIT:C27219 NCIT:C3439 viral infectious disease -MONDO:0024354 cytomegalovirus pneumonia MONDO:0005132 NCIT:C35360 NCIT:C53649 cytomegalovirus infection MONDO:0024386 large cell lung carcinoma, clear cell variant MONDO:0003050 NCIT:C4451 NCIT:C4450 lung large cell carcinoma MONDO:0024387 benign ovarian sex cord-stromal tumor MONDO:0000646 NCIT:C6803 NCIT:C2895 ovarian benign neoplasm MONDO:0024387 benign ovarian sex cord-stromal tumor MONDO:0021657 NCIT:C6803 NCIT:C4862 ovarian sex cord-stromal tumor -MONDO:0024422 auditory perceptual disorders MONDO:0021945 NCIT:C84575 NCIT:C3078 hearing disorder -MONDO:0024429 Alice in Wonderland syndrome MONDO:0002254 NCIT:C116362 NCIT:C28193 syndromic disease MONDO:0024461 angiomatosis MONDO:0024286 NCIT:C27503 NCIT:C8537 benign blood vessel neoplasm MONDO:0024469 chondrogenic neoplasm MONDO:0002616 NCIT:C4755 NCIT:C7059 mesenchymal cell neoplasm MONDO:0024470 benign chondrogenic neoplasm MONDO:0024469 NCIT:C8592 NCIT:C4755 chondrogenic neoplasm @@ -5494,11 +3746,6 @@ MONDO:0024475 squamous cell intraepithelial neoplasia MONDO:0002532 NCIT:C8334 N MONDO:0024475 squamous cell intraepithelial neoplasia MONDO:0024474 NCIT:C8334 NCIT:C8366 intraepithelial neoplasia MONDO:0024477 liver and intrahepatic bile duct neoplasm MONDO:0002514 NCIT:C7103 NCIT:C8614 hepatobiliary neoplasm MONDO:0024477 liver and intrahepatic bile duct neoplasm MONDO:0005154 NCIT:C7103 NCIT:C3196 liver disorder -MONDO:0024478 mesenchymal hamartoma MONDO:0006499 NCIT:C40427 NCIT:C3075 hamartoma -MONDO:0024482 eccrine sweat gland hamartoma MONDO:0021539 NCIT:C5564 NCIT:C5562 hamartoma of skin appendage -MONDO:0024483 urothelial hyperplasia MONDO:0005043 NCIT:C27877 NCIT:C3113 hyperplasia -MONDO:0024485 papillary urothelial hyperplasia MONDO:0024483 NCIT:C27879 NCIT:C27877 urothelial hyperplasia -MONDO:0024496 tumor grade 2 or 3, general grading system MONDO:0024489 NCIT:C94678 NCIT:C28076 general tumor grading characteristic MONDO:0024499 vascular bone neoplasm MONDO:0019060 NCIT:C6478 NCIT:C9343 bone neoplasm MONDO:0024499 vascular bone neoplasm MONDO:0024296 NCIT:C6478 NCIT:C7388 vascular neoplasm MONDO:0024501 appendix neuroendocrine neoplasm MONDO:0001236 NCIT:C60709 NCIT:C4434 appendiceal neoplasm @@ -5506,20 +3753,12 @@ MONDO:0024502 gallbladder neuroendocrine neoplasm MONDO:0021253 NCIT:C96917 NCIT MONDO:0024502 gallbladder neuroendocrine neoplasm MONDO:0024503 NCIT:C96917 NCIT:C27721 digestive system neuroendocrine neoplasm MONDO:0024503 digestive system neuroendocrine neoplasm MONDO:0019496 NCIT:C27721 NCIT:C3809 neuroendocrine neoplasm MONDO:0024503 digestive system neuroendocrine neoplasm MONDO:0021223 NCIT:C27721 NCIT:C3052 digestive system neoplasm -MONDO:0024504 enterochromaffin cell serotonin-producing pancreatic neuroendocrine tumor MONDO:0021535 NCIT:C4446 NCIT:C95584 pancreatic neuroendocrine tumor G1 -MONDO:0024571 AIDS-related disorder MONDO:0024572 NCIT:C4991 NCIT:C35686 immunodeficiency-related disorder -MONDO:0024573 familial hypertrophic cardiomyopathy MONDO:0005045 NCIT:C84773 NCIT:C34449 hypertrophic cardiomyopathy MONDO:0024582 male reproductive system neoplasm MONDO:0003150 NCIT:C3054 NCIT:C27019 male reproductive system disorder MONDO:0024582 male reproductive system neoplasm MONDO:0006054 NCIT:C3054 NCIT:C3674 reproductive system neoplasm MONDO:0024609 vulvar squamous cell carcinoma MONDO:0002195 NCIT:C4052 NCIT:C40283 vulvar squamous neoplasm MONDO:0024609 vulvar squamous cell carcinoma MONDO:0005096 NCIT:C4052 NCIT:C2929 squamous cell carcinoma MONDO:0024609 vulvar squamous cell carcinoma MONDO:0005215 NCIT:C4052 NCIT:C4866 vulvar carcinoma -MONDO:0024612 manic bipolar affective disorder MONDO:0004985 NCIT:C34805 NCIT:C34423 bipolar disorder -MONDO:0024613 bipolar depression MONDO:0002050 NCIT:C34424 NCIT:C2982 depressive disorder -MONDO:0024613 bipolar depression MONDO:0004985 NCIT:C34424 NCIT:C34423 bipolar disorder -MONDO:0024614 neurotic depression MONDO:0002050 NCIT:C35369 NCIT:C2982 depressive disorder MONDO:0024615 T-cell and NK-cell neoplasm MONDO:0005157 NCIT:C27908 NCIT:C7065 lymphoid neoplasm -MONDO:0024619 central nervous system infectious disorder MONDO:0020010 NCIT:C27582 NCIT:C27590 infectious disorder of the nervous system MONDO:0024621 serous cystadenocarcinoma MONDO:0005278 NCIT:C3778 NCIT:C40101 serous adenocarcinoma MONDO:0024621 serous cystadenocarcinoma MONDO:0005596 NCIT:C3778 NCIT:C2971 cystadenocarcinoma MONDO:0024622 thyroid gland adenocarcinoma MONDO:0004970 NCIT:C27380 NCIT:C2852 adenocarcinoma @@ -5537,12 +3776,10 @@ MONDO:0024656 colorectal lymphoma MONDO:0004699 NCIT:C96498 NCIT:C38162 gastroin MONDO:0024656 colorectal lymphoma MONDO:0005575 NCIT:C96498 NCIT:C4978 colorectal cancer MONDO:0024658 extrahepatic bile duct sarcoma MONDO:0021321 NCIT:C5029 NCIT:C7483 malignant tumor of extrahepatic bile duct MONDO:0024662 colorectal tubulovillous adenoma MONDO:0024661 NCIT:C5675 NCIT:C4143 tubulovillous adenoma -MONDO:0024664 hypertension, pregnancy-induced MONDO:0024575 NCIT:C9243 NCIT:C35169 pregnancy disorder MONDO:0024666 benign epithelial skin neoplasm MONDO:0021440 NCIT:C7341 NCIT:C2896 benign neoplasm of skin MONDO:0024666 benign epithelial skin neoplasm MONDO:0021634 NCIT:C7341 NCIT:C7342 epithelial skin neoplasm MONDO:0024666 benign epithelial skin neoplasm MONDO:0036976 NCIT:C7341 NCIT:C4092 benign epithelial neoplasm MONDO:0024673 skin lymphangioma MONDO:0002013 NCIT:C27509 NCIT:C8965 lymphangioma -MONDO:0024674 Pancoast syndrome MONDO:0021058 NCIT:C55815 NCIT:C54705 neoplastic syndrome MONDO:0024675 adult kidney Wilms tumor MONDO:0019004 NCIT:C6180 NCIT:C40407 kidney Wilms tumor MONDO:0024676 childhood kidney Wilms tumor MONDO:0019004 NCIT:C27730 NCIT:C40407 kidney Wilms tumor MONDO:0024676 childhood kidney Wilms tumor MONDO:0036511 NCIT:C27730 NCIT:C123907 childhood malignant kidney neoplasm @@ -5580,32 +3817,14 @@ MONDO:0024885 malignant ovarian serous tumor MONDO:0037255 NCIT:C40025 NCIT:C843 MONDO:0024886 serous adenofibroma MONDO:0006071 NCIT:C67090 NCIT:C8984 adenofibroma MONDO:0024890 pineal parenchymal cell neoplasm MONDO:0021193 NCIT:C6965 NCIT:C3787 neuroepithelial neoplasm MONDO:0024890 pineal parenchymal cell neoplasm MONDO:0021232 NCIT:C6965 NCIT:C3328 pineal body neoplasm -MONDO:0024892 soft tissue amyloid neoplasm MONDO:0006424 NCIT:C8323 NCIT:C3377 soft tissue neoplasm MONDO:0024892 soft tissue amyloid neoplasm MONDO:0019065 NCIT:C8323 NCIT:C2868 amyloidosis -MONDO:0027766 generalized lipodystrophy MONDO:0006573 NCIT:C131815 NCIT:C97093 lipodystrophy -MONDO:0027767 partial lipodystrophy MONDO:0006573 NCIT:C131296 NCIT:C97093 lipodystrophy MONDO:0027772 lung colloid adenocarcinoma MONDO:0004957 NCIT:C45512 NCIT:C26712 mucinous adenocarcinoma MONDO:0027772 lung colloid adenocarcinoma MONDO:0005061 NCIT:C45512 NCIT:C3512 lung adenocarcinoma -MONDO:0028226 autosomal recessive severe congenital neutropenia MONDO:0018542 NCIT:C176624 NCIT:C166152 severe congenital neutropenia MONDO:0030604 cystic partially differentiated nephroblastoma MONDO:0004356 NCIT:C6897 NCIT:C6566 childhood multilocular cystic kidney neoplasm MONDO:0030604 cystic partially differentiated nephroblastoma MONDO:0024676 NCIT:C6897 NCIT:C27730 childhood kidney Wilms tumor -MONDO:0030705 Trichomonas prostatitis MONDO:0002154 NCIT:C35176 NCIT:C35720 trichomoniasis -MONDO:0030705 Trichomonas prostatitis MONDO:0005280 NCIT:C35176 NCIT:C26866 prostatitis -MONDO:0030707 Trichomonas balanoposthitis MONDO:0002154 NCIT:C35406 NCIT:C35720 trichomoniasis -MONDO:0030708 Trichomonas cervicitis MONDO:0002154 NCIT:C35588 NCIT:C35720 trichomoniasis -MONDO:0031014 autoimmune gastritis MONDO:0004966 NCIT:C95752 NCIT:C26780 gastritis -MONDO:0032786 Noonan syndrome 11 MONDO:0018997 NCIT:C177119 NCIT:C34854 Noonan syndrome -MONDO:0032806 trichothiodystrophy 7, nonphotosensitive MONDO:0018053 NCIT:C173102 NCIT:C4924 trichothiodystrophy -MONDO:0032839 noonan syndrome 12 MONDO:0018997 NCIT:C177120 NCIT:C34854 Noonan syndrome -MONDO:0033669 Noonan syndrome 13 MONDO:0018997 NCIT:C177121 NCIT:C34854 Noonan syndrome -MONDO:0033954 monoclonal mast cell activation syndrome MONDO:0002254 NCIT:C181652 NCIT:C28193 syndromic disease -MONDO:0033954 monoclonal mast cell activation syndrome MONDO:0005046 NCIT:C181652 NCIT:C3507 immune system disorder +MONDO:0035112 acute myeloid leukemia with BCR-ABL1 MONDO:0018874 NCIT:C129785 NCIT:C3171 acute myeloid leukemia MONDO:0035121 myeloid/lymphoid neoplasm associated with JAK2 rearrangement MONDO:0015688 NCIT:C129853 NCIT:C84270 myeloid/lymphoid neoplasms associated with eosinophilia and abnormality of PDGFRA, PDGFRB, FGFR1 or JAK2 MONDO:0035642 mixed phenotype acute leukemia with t(v;11q23.3) MONDO:0020743 NCIT:C82203 NCIT:C82179 mixed phenotype acute leukemia -MONDO:0035737 acquired factor V deficiency MONDO:0020586 NCIT:C131624 NCIT:C131738 factor V deficiency -MONDO:0035737 acquired factor V deficiency MONDO:0020599 NCIT:C131624 NCIT:C34347 acquired coagulation factor deficiency -MONDO:0035738 acquired factor VII deficiency MONDO:0020599 NCIT:C131625 NCIT:C34347 acquired coagulation factor deficiency -MONDO:0035740 acquired factor XI deficiency MONDO:0020587 NCIT:C131627 NCIT:C131739 factor XI deficiency MONDO:0035940 B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) MONDO:0035605 NCIT:C80331 NCIT:C80328 B-lymphoblastic leukemia/lymphoma with recurrent genetic abnormality MONDO:0035941 B-lymphoblastic leukemia/lymphoma with t(v;11q23.3) MONDO:0035605 NCIT:C80332 NCIT:C80328 B-lymphoblastic leukemia/lymphoma with recurrent genetic abnormality MONDO:0035942 B-lymphoblastic leukemia/lymphoma with t(12;21)(p13.2;q22.1) MONDO:0035605 NCIT:C80334 NCIT:C80328 B-lymphoblastic leukemia/lymphoma with recurrent genetic abnormality @@ -5615,7 +3834,6 @@ MONDO:0035945 B-lymphoblastic leukemia/lymphoma with t(5;14)(q31.1;q32.3) MONDO: MONDO:0036501 refractory malignant neoplasm MONDO:0004992 NCIT:C120186 NCIT:C9305 cancer MONDO:0036511 childhood malignant kidney neoplasm MONDO:0002367 NCIT:C123907 NCIT:C7548 kidney cancer MONDO:0036511 childhood malignant kidney neoplasm MONDO:0002730 NCIT:C123907 NCIT:C6563 childhood kidney neoplasm -MONDO:0036511 childhood malignant kidney neoplasm MONDO:0006517 NCIT:C123907 NCIT:C4005 childhood malignant neoplasm MONDO:0036591 adrenal cortex neoplasm MONDO:0021227 NCIT:C2858 NCIT:C2859 adrenal gland neoplasm MONDO:0036595 ovarian Sertoli-Leydig cell tumor MONDO:0020807 NCIT:C2880 NCIT:C39966 ovarian sertoli-stromal cell tumor MONDO:0036688 rhabdomyoma MONDO:0003061 NCIT:C3358 NCIT:C4882 benign muscle neoplasm @@ -5635,7 +3853,6 @@ MONDO:0037003 malignant phyllodes tumor MONDO:0005078 NCIT:C4275 NCIT:C2977 phyl MONDO:0037003 malignant phyllodes tumor MONDO:0005853 NCIT:C4275 NCIT:C3729 malignant mixed neoplasm MONDO:0037105 lung germ cell tumor MONDO:0018201 NCIT:C45636 NCIT:C3918 extragonadal germ cell tumor MONDO:0037105 lung germ cell tumor MONDO:0021117 NCIT:C45636 NCIT:C3200 lung neoplasm -MONDO:0037250 childhood testicular neoplasm MONDO:0021079 NCIT:C5053 NCIT:C6283 childhood neoplasm MONDO:0037250 childhood testicular neoplasm MONDO:0021348 NCIT:C5053 NCIT:C3404 neoplasm of testis MONDO:0037253 ovarian thecoma MONDO:0037252 NCIT:C66989 NCIT:C3405 thecoma MONDO:0037254 transitional cell neoplasm MONDO:0005626 NCIT:C6783 NCIT:C3709 epithelial neoplasm @@ -5654,78 +3871,20 @@ MONDO:0037743 mediastinal soft tissue cancer MONDO:0005843 NCIT:C6642 NCIT:C3549 MONDO:0037743 mediastinal soft tissue cancer MONDO:0024637 NCIT:C6642 NCIT:C4867 malignant soft tissue neoplasm MONDO:0037746 malignant vaginal mixed epithelial and mesenchymal neoplasm MONDO:0001402 NCIT:C40276 NCIT:C7410 vaginal cancer MONDO:0037746 malignant vaginal mixed epithelial and mesenchymal neoplasm MONDO:0005853 NCIT:C40276 NCIT:C3729 malignant mixed neoplasm -MONDO:0037748 hyperlipoproteinemia MONDO:0005066 NCIT:C34709 NCIT:C3235 metabolic disease -MONDO:0037858 inherited fatty acid metabolism disorder MONDO:0002525 NCIT:C117115 NCIT:C97092 inherited lipid metabolism disorder MONDO:0040673 malignant peritoneal germ cell tumor MONDO:0002087 NCIT:C136410 NCIT:C3538 peritoneum cancer MONDO:0040673 malignant peritoneal germ cell tumor MONDO:0003113 NCIT:C136410 NCIT:C8881 extragonadal germ cell cancer MONDO:0040677 invasive carcinoma MONDO:0004993 NCIT:C9480 NCIT:C2916 carcinoma MONDO:0040678 infiltrating urothelial carcinoma MONDO:0040677 NCIT:C39853 NCIT:C9480 invasive carcinoma MONDO:0040679 urothelial carcinoma MONDO:0006474 NCIT:C4030 NCIT:C2930 transitional cell carcinoma MONDO:0040679 urothelial carcinoma MONDO:0024337 NCIT:C4030 NCIT:C39852 urothelial neoplasm -MONDO:0040923 late latent syphilis MONDO:0005822 NCIT:C128371 NCIT:C35056 latent syphilis -MONDO:0042233 disseminated candidiasis MONDO:0002026 NCIT:C116812 NCIT:C26711 candidiasis -MONDO:0042485 infective arthritis MONDO:0005578 NCIT:C26700 NCIT:C2883 arthritic joint disease MONDO:0042491 cervical squamous intraepithelial neoplasia MONDO:0022394 NCIT:C7346 NCIT:C3782 cervical intraepithelial neoplasia MONDO:0042491 cervical squamous intraepithelial neoplasia MONDO:0024475 NCIT:C7346 NCIT:C8334 squamous cell intraepithelial neoplasia MONDO:0042493 gastric non-hodgkin lymphoma MONDO:0001059 NCIT:C27235 NCIT:C4636 gastric lymphoma MONDO:0042494 childhood malignant melanoma MONDO:0005105 NCIT:C131506 NCIT:C3224 melanoma -MONDO:0042727 sacrococcygeal teratoma MONDO:0002601 NCIT:C99055 NCIT:C3403 teratoma -MONDO:0042976 vitamin B deficiency MONDO:0024298 NCIT:C35129 NCIT:C35772 vitamin deficiency disorder -MONDO:0042982 GATA2 deficiency with susceptibility to MDS/AML MONDO:0021094 NCIT:C126349 NCIT:C3131 immunodeficiency disease -MONDO:0043103 hypothyroidism due to iodide transport defect MONDO:0018612 NCIT:C121747 NCIT:C26734 congenital hypothyroidism -MONDO:0043218 neurovascular disorder MONDO:0005071 NCIT:C117007 NCIT:C26835 nervous system disorder -MONDO:0043224 multi-infarct dementia MONDO:0004648 NCIT:C34522 NCIT:C34525 vascular dementia -MONDO:0043240 hemophilic arthropathy MONDO:0005578 NCIT:C27039 NCIT:C2883 arthritic joint disease -MONDO:0043243 leukoplakia MONDO:0021074 NCIT:C3186 NCIT:C3341 precancerous condition -MONDO:0043247 Mallory-Weiss syndrome MONDO:0002254 NCIT:C84881 NCIT:C28193 syndromic disease -MONDO:0043251 odontoma MONDO:0006499 NCIT:C3287 NCIT:C3075 hamartoma -MONDO:0043287 superior vena cava syndrome MONDO:0002254 NCIT:C3396 NCIT:C28193 syndromic disease -MONDO:0043294 linear scleroderma MONDO:0019562 NCIT:C116780 NCIT:C72069 localized scleroderma -MONDO:0043300 actinic cheilitis MONDO:0002102 NCIT:C183562 NCIT:C79545 cheilitis -MONDO:0043303 hyperacusis MONDO:0024422 NCIT:C116366 NCIT:C84575 auditory perceptual disorders -MONDO:0043320 piriformis syndrome MONDO:0002254 NCIT:C85012 NCIT:C28193 syndromic disease -MONDO:0043355 collagenous gastritis MONDO:0004966 NCIT:C122082 NCIT:C26780 gastritis -MONDO:0043370 secondary adrenal insufficiency MONDO:0000004 NCIT:C62602 NCIT:C26691 adrenocortical insufficiency -MONDO:0043455 humoral hypercalcemia of malignancy MONDO:0001566 NCIT:C3496 NCIT:C3112 hypercalcemia disease -MONDO:0043468 acne keloid MONDO:0005348 NCIT:C34346 NCIT:C3145 keloid -MONDO:0043475 Adams-Stokes syndrome MONDO:0002254 NCIT:C79765 NCIT:C28193 syndromic disease -MONDO:0043494 arteritis MONDO:0000473 NCIT:C34399 NCIT:C35317 arterial disorder -MONDO:0043494 arteritis MONDO:0018882 NCIT:C34399 NCIT:C26912 vasculitis -MONDO:0043519 burn MONDO:0021178 NCIT:C34441 NCIT:C3671 injury -MONDO:0043537 cluster headache syndrome MONDO:0015530 NCIT:C117077 NCIT:C117074 trigeminal autonomic cephalalgia -MONDO:0043544 nosocomial infection MONDO:0005550 NCIT:C115164 NCIT:C26726 infectious disease -MONDO:0043576 endarteritis MONDO:0043494 NCIT:C34581 NCIT:C34399 arteritis -MONDO:0043683 Leriche syndrome MONDO:0002254 NCIT:C34773 NCIT:C28193 syndromic disease -MONDO:0043726 multiple organ dysfunction syndrome MONDO:0002254 NCIT:C179648 NCIT:C28193 syndromic disease -MONDO:0043735 osteoradionecrosis MONDO:0005380 NCIT:C63707 NCIT:C34880 osteonecrosis -MONDO:0043759 abdominal ectopic pregnancy MONDO:0000755 NCIT:C92921 NCIT:C34945 ectopic pregnancy -MONDO:0043762 tubal pregnancy MONDO:0000755 NCIT:C92946 NCIT:C34945 ectopic pregnancy -MONDO:0043765 presbycusis MONDO:0005365 NCIT:C116367 NCIT:C35731 hearing loss disorder -MONDO:0043771 radiodermatitis MONDO:0002406 NCIT:C3349 NCIT:C2983 dermatitis -MONDO:0043789 serum sickness MONDO:0002459 NCIT:C79718 NCIT:C3115 type IV hypersensitivity disease -MONDO:0043875 tumor lysis syndrome MONDO:0021058 NCIT:C3425 NCIT:C54705 neoplastic syndrome -MONDO:0043923 lichen planus, oral MONDO:0006572 NCIT:C7406 NCIT:C3189 lichen planus -MONDO:0043994 acute cholecystitis MONDO:0002155 NCIT:C35152 NCIT:C34465 cholecystitis -MONDO:0044001 hearing loss, mixed conductive-sensorineural MONDO:0005365 NCIT:C26974 NCIT:C35731 hearing loss disorder -MONDO:0044033 posterior leukoencephalopathy syndrome MONDO:0002254 NCIT:C78598 NCIT:C28193 syndromic disease -MONDO:0044067 candidiasis, invasive MONDO:0002026 NCIT:C116813 NCIT:C26711 candidiasis -MONDO:0044079 cardio-renal syndrome MONDO:0002254 NCIT:C123225 NCIT:C28193 syndromic disease -MONDO:0044098 ovarian ectopic pregnancy MONDO:0000755 NCIT:C92945 NCIT:C34945 ectopic pregnancy -MONDO:0044101 pregnancy, cornual MONDO:0000755 NCIT:C92761 NCIT:C34945 ectopic pregnancy -MONDO:0044113 bullous systemic lupus erythematosus MONDO:0007915 NCIT:C117104 NCIT:C3201 systemic lupus erythematosus -MONDO:0044137 vitreous body disorder MONDO:0005328 NCIT:C45256 NCIT:C26767 eye disorder -MONDO:0044138 hyalitis MONDO:0044137 NCIT:C50587 NCIT:C45256 vitreous body disorder -MONDO:0044333 alcohol-induced Wernicke-Korsakoff's syndrome MONDO:0010198 NCIT:C34366 NCIT:C35764 Wernicke-Korsakoff syndrome MONDO:0044335 benign soft tissue neoplasm MONDO:0000654 NCIT:C4242 NCIT:C53684 benign connective and soft tissue neoplasm MONDO:0044335 benign soft tissue neoplasm MONDO:0006424 NCIT:C4242 NCIT:C3377 soft tissue neoplasm MONDO:0044336 colorectal signet ring cell carcinoma MONDO:0005092 NCIT:C43586 NCIT:C3774 signet ring cell carcinoma MONDO:0044337 stromal sarcoma MONDO:0018078 NCIT:C6926 NCIT:C9306 soft tissue sarcoma -MONDO:0044339 lumbar disk degenerative disorder MONDO:0011385 NCIT:C27154 NCIT:C26983 intervertebral disk degenerative disorder -MONDO:0044342 thoracic disk degenerative disorder MONDO:0011385 NCIT:C27155 NCIT:C26983 intervertebral disk degenerative disorder -MONDO:0044343 cervical disk degenerative disorder MONDO:0011385 NCIT:C27156 NCIT:C26983 intervertebral disk degenerative disorder -MONDO:0044344 Schistosoma japonicum infectious disease MONDO:0015254 NCIT:C35001 NCIT:C35000 schistosomiasis -MONDO:0044345 Schistosoma mansoni infectious disease MONDO:0015254 NCIT:C35002 NCIT:C35000 schistosomiasis -MONDO:0044351 Schistosoma intercalatum infectious disease MONDO:0015254 NCIT:C35364 NCIT:C35000 schistosomiasis MONDO:0044638 hypopharynx squamous cell carcinoma MONDO:0000536 NCIT:C4043 NCIT:C102872 pharyngeal squamous cell carcinoma MONDO:0044638 hypopharynx squamous cell carcinoma MONDO:0005216 NCIT:C4043 NCIT:C9465 hypopharyngeal carcinoma MONDO:0044704 oropharynx squamous cell carcinoma MONDO:0000536 NCIT:C8181 NCIT:C102872 pharyngeal squamous cell carcinoma @@ -5738,14 +3897,11 @@ MONDO:0044727 pancreatic carcinoma with mixed differentiation MONDO:0006182 NCIT MONDO:0044740 salivary gland squamous cell carcinoma MONDO:0000521 NCIT:C7991 NCIT:C9272 salivary gland carcinoma MONDO:0044743 major salivary gland cancer MONDO:0004669 NCIT:C4762 NCIT:C3811 salivary gland cancer MONDO:0044743 major salivary gland cancer MONDO:0021368 NCIT:C4762 NCIT:C4407 neoplasm of major salivary gland -MONDO:0044753 lumbar spinal stenosis MONDO:0005965 NCIT:C177445 NCIT:C177444 spinal stenosis MONDO:0044764 benign choroid plexus neoplasm MONDO:0016717 NCIT:C8405 NCIT:C3473 choroid plexus neoplasm MONDO:0044764 benign choroid plexus neoplasm MONDO:0021451 NCIT:C8405 NCIT:C4781 benign neoplasm of brain -MONDO:0044765 steroid-resistant nephrotic syndrome MONDO:0005377 NCIT:C122798 NCIT:C34845 nephrotic syndrome MONDO:0044767 childhood adrenal gland pheochromocytoma MONDO:0004974 NCIT:C118822 NCIT:C3326 adrenal gland pheochromocytoma MONDO:0044768 vagus nerve paraganglioma MONDO:0001608 NCIT:C8427 NCIT:C5831 vagus nerve neoplasm MONDO:0044768 vagus nerve paraganglioma MONDO:0006239 NCIT:C8427 NCIT:C5327 head and neck paraganglioma -MONDO:0044778 nodular lymphocyte predominant Hodgkin lymphoma MONDO:0004952 NCIT:C7258 NCIT:C9357 Hodgkins lymphoma MONDO:0044783 solid papillary breast carcinoma MONDO:0003532 NCIT:C6870 NCIT:C9134 breast papillary carcinoma MONDO:0044785 desmoplastic melanoma MONDO:0006427 NCIT:C37257 NCIT:C4237 spindle cell melanoma MONDO:0044786 solid pseudopapillary neoplasm of the pancreas MONDO:0002116 NCIT:C37212 NCIT:C7430 malignant exocrine pancreas neoplasm @@ -5760,15 +3916,7 @@ MONDO:0044796 spindle cell nevus MONDO:0044793 NCIT:C66758 NCIT:C27007 spitz nev MONDO:0044797 desmoplastic nevus MONDO:0044794 NCIT:C4497 NCIT:C7571 benign melanocytic skin nevus MONDO:0044800 desmoplastic spitz nevus MONDO:0044793 NCIT:C82864 NCIT:C27007 spitz nevus MONDO:0044800 desmoplastic spitz nevus MONDO:0044797 NCIT:C82864 NCIT:C4497 desmoplastic nevus -MONDO:0044807 inherited dystonia MONDO:0003441 NCIT:C35527 NCIT:C34563 dystonic disorder -MONDO:0044811 idiopathic torsion dystonia MONDO:0003441 NCIT:C34564 NCIT:C34563 dystonic disorder -MONDO:0044816 familial idiopathic torsion dystonia MONDO:0044807 NCIT:C35437 NCIT:C35527 inherited dystonia -MONDO:0044816 familial idiopathic torsion dystonia MONDO:0044811 NCIT:C35437 NCIT:C34564 idiopathic torsion dystonia -MONDO:0044817 acquired idiopathic torsion dystonia MONDO:0044811 NCIT:C35438 NCIT:C34564 idiopathic torsion dystonia MONDO:0044873 childhood myelodysplastic syndrome MONDO:0018881 NCIT:C68744 NCIT:C3247 myelodysplastic syndrome -MONDO:0044874 refractory cytopenia of childhood MONDO:0044873 NCIT:C82596 NCIT:C68744 childhood myelodysplastic syndrome -MONDO:0044876 drug hypersensitivity syndrome MONDO:0002254 NCIT:C112208 NCIT:C28193 syndromic disease -MONDO:0044877 paraneoplastic cerebellar degeneration MONDO:0022687 NCIT:C4685 NCIT:C84624 cerebellar degeneration MONDO:0044878 adult germ cell tumor MONDO:0005040 NCIT:C114777 NCIT:C3708 germ cell tumor MONDO:0044879 pancreatic mucinous-cystic neoplasm MONDO:0024338 NCIT:C41247 NCIT:C7070 mucinous neoplasm MONDO:0044881 hematopoietic and lymphoid cell neoplasm MONDO:0002334 NCIT:C27134 NCIT:C35813 hematopoietic and lymphoid system neoplasm @@ -5792,8 +3940,6 @@ MONDO:0044917 T-lymphoblastic lymphoma MONDO:0000873 NCIT:C6919 NCIT:C9360 lymph MONDO:0044917 T-lymphoblastic lymphoma MONDO:0003537 NCIT:C6919 NCIT:C8694 precursor T-lymphoblastic lymphoma/leukemia MONDO:0044919 malignant renal pelvis neoplasm MONDO:0002367 NCIT:C7525 NCIT:C7548 kidney cancer MONDO:0044919 malignant renal pelvis neoplasm MONDO:0003719 NCIT:C7525 NCIT:C8404 renal pelvis neoplasm -MONDO:0044921 atypical lymphoproliferative disorder MONDO:0016537 NCIT:C7764 NCIT:C9308 lymphoproliferative syndrome -MONDO:0044921 atypical lymphoproliferative disorder MONDO:0060782 NCIT:C7764 NCIT:C27274 premalignant hematological system disease MONDO:0044925 oral cavity carcinoma MONDO:0005515 NCIT:C8990 NCIT:C9314 oral cavity cancer MONDO:0044925 oral cavity carcinoma MONDO:0023644 NCIT:C8990 NCIT:C9315 lip and oral cavity carcinoma MONDO:0044926 oropharyngeal carcinoma MONDO:0004608 NCIT:C9105 NCIT:C7398 oropharynx cancer @@ -5806,16 +3952,11 @@ MONDO:0044964 oral cavity mucoepidermoid carcinoma MONDO:0003036 NCIT:C8177 NCIT MONDO:0044964 oral cavity mucoepidermoid carcinoma MONDO:0044925 NCIT:C8177 NCIT:C8990 oral cavity carcinoma MONDO:0044983 benign lipomatous neoplasm MONDO:0000654 NCIT:C4502 NCIT:C53684 benign connective and soft tissue neoplasm MONDO:0044983 benign lipomatous neoplasm MONDO:0021354 NCIT:C4502 NCIT:C4248 tumor of adipose tissue -MONDO:0045048 toxemia of pregnancy MONDO:0024664 NCIT:C34943 NCIT:C9243 hypertension, pregnancy-induced -MONDO:0045050 nuclear cataract MONDO:0005129 NCIT:C135176 NCIT:C26713 cataract -MONDO:0045051 cortical cataract MONDO:0005129 NCIT:C135177 NCIT:C26713 cataract MONDO:0045052 benign osteogenic neoplasm MONDO:0000654 NCIT:C6602 NCIT:C53684 benign connective and soft tissue neoplasm MONDO:0045052 benign osteogenic neoplasm MONDO:0045053 NCIT:C6602 NCIT:C6603 osteogenic neoplasm MONDO:0045053 osteogenic neoplasm MONDO:0002616 NCIT:C6603 NCIT:C7059 mesenchymal cell neoplasm MONDO:0045055 glycogen-rich carcinoma MONDO:0004993 NCIT:C4153 NCIT:C2916 carcinoma MONDO:0045056 grade II meningioma MONDO:0016642 NCIT:C38937 NCIT:C3230 meningioma -MONDO:0045057 delirium MONDO:0002039 NCIT:C2981 NCIT:C92196 cognitive disorder -MONDO:0045060 intraductal cribriform breast adenocarcinoma MONDO:0005023 NCIT:C5138 NCIT:C2924 ductal breast carcinoma in situ MONDO:0045063 major salivary gland adenoid cystic carcinoma MONDO:0003175 NCIT:C5905 NCIT:C8026 salivary gland adenoid cystic carcinoma MONDO:0045063 major salivary gland adenoid cystic carcinoma MONDO:0006284 NCIT:C5905 NCIT:C5907 major salivary gland carcinoma MONDO:0045068 minor salivary gland adenoid cystic carcinoma MONDO:0003175 NCIT:C5936 NCIT:C8026 salivary gland adenoid cystic carcinoma @@ -5823,11 +3964,6 @@ MONDO:0045069 minor salivary gland carcinoma MONDO:0000521 NCIT:C5957 NCIT:C9272 MONDO:0045069 minor salivary gland carcinoma MONDO:0021316 NCIT:C5957 NCIT:C4410 malignant tumor of minor salivary gland MONDO:0045070 digestive system melanoma MONDO:0002516 NCIT:C7091 NCIT:C4890 digestive system cancer MONDO:0045071 mycosis fungoides variant MONDO:0000607 NCIT:C39644 NCIT:C3467 primary cutaneous T-cell non-Hodgkin lymphoma -MONDO:0045072 ectopic hormone secretion syndrome associated with neoplasia MONDO:0021058 NCIT:C4065 NCIT:C54705 neoplastic syndrome -MONDO:0054588 Noonan syndrome-like disorder with loose anagen hair 2 MONDO:0011899 NCIT:C176940 NCIT:C178129 Noonan syndrome-like disorder with loose anagen hair -MONDO:0054637 Noonan syndrome-like disorder with loose anagen hair 1 MONDO:0011899 NCIT:C176939 NCIT:C178129 Noonan syndrome-like disorder with loose anagen hair -MONDO:0054697 immunodeficiency 11b with atopic dermatitis MONDO:0021094 NCIT:C176630 NCIT:C3131 immunodeficiency disease -MONDO:0054868 meconium ileus MONDO:0004567 NCIT:C98979 NCIT:C37979 ileus MONDO:0056805 benign peripheral nerve granular cell tumor MONDO:0003250 NCIT:C5502 NCIT:C3252 benign granular cell tumor MONDO:0056806 non-small cell squamous lung carcinoma MONDO:0005097 NCIT:C133254 NCIT:C3493 squamous cell lung carcinoma MONDO:0056806 non-small cell squamous lung carcinoma MONDO:0005233 NCIT:C133254 NCIT:C2926 non-small cell lung carcinoma @@ -5838,46 +3974,18 @@ MONDO:0056817 rectal adenosquamous carcinoma MONDO:0006157 NCIT:C43594 NCIT:C435 MONDO:0056818 skin adenosquamous carcinoma MONDO:0006074 NCIT:C54250 NCIT:C3727 adenosquamous carcinoma MONDO:0056819 nasal cavity and paranasal sinus carcinoma MONDO:0002038 NCIT:C54293 NCIT:C35850 head and neck carcinoma MONDO:0056820 nasal cavity and paranasal sinus neoplasm MONDO:0005586 NCIT:C7336 NCIT:C3077 head and neck neoplasm -MONDO:0060765 fibroepithelial polyp MONDO:0005079 NCIT:C3337 NCIT:C3340 polyp -MONDO:0060766 anal polyp MONDO:0002519 NCIT:C3957 NCIT:C26695 anus disorder -MONDO:0060766 anal polyp MONDO:0024292 NCIT:C3957 NCIT:C35516 gastrointestinal polyp -MONDO:0060768 gingival fibroepithelial polyp MONDO:0003396 NCIT:C4693 NCIT:C3948 epulis -MONDO:0060768 gingival fibroepithelial polyp MONDO:0060765 NCIT:C4693 NCIT:C3337 fibroepithelial polyp -MONDO:0060774 vaginal fibroepithelial polyp MONDO:0021394 NCIT:C4948 NCIT:C3664 polyp of vagina -MONDO:0060774 vaginal fibroepithelial polyp MONDO:0060765 NCIT:C4948 NCIT:C3337 fibroepithelial polyp -MONDO:0060777 cervical fibroepithelial polyp MONDO:0000751 NCIT:C40200 NCIT:C2939 cervical polyp -MONDO:0060777 cervical fibroepithelial polyp MONDO:0060765 NCIT:C40200 NCIT:C3337 fibroepithelial polyp -MONDO:0060778 adult Fanconi syndrome MONDO:0001083 NCIT:C4377 NCIT:C3034 Fanconi renotubular syndrome -MONDO:0060779 acquired Fanconi syndrome MONDO:0001083 NCIT:C78296 NCIT:C3034 Fanconi renotubular syndrome -MONDO:0060782 premalignant hematological system disease MONDO:0005570 NCIT:C27274 NCIT:C26323 hematologic disorder -MONDO:0060783 classic congenital adrenal hyperplasia MONDO:0018479 NCIT:C131423 NCIT:C34360 congenital adrenal hyperplasia -MONDO:0100053 anaphylaxis MONDO:0000605 NCIT:C107101 NCIT:C3114 hypersensitivity reaction disease MONDO:0100055 intraosseous spindle cell rhabdomyosarcoma with TFCP2/NCOA2 rearrangements MONDO:0002581 NCIT:C178236 NCIT:C6519 spindle cell rhabdomyosarcoma MONDO:0100060 congenital/infantile spindle cell rhabdomyosarcoma with VGLL2/NCOA2/CITED2 rearrangements MONDO:0002581 NCIT:C178232 NCIT:C6519 spindle cell rhabdomyosarcoma MONDO:0100067 childhood spindle cell rhabdomyosarcoma MONDO:0002581 NCIT:C123397 NCIT:C6519 spindle cell rhabdomyosarcoma -MONDO:0100115 acute flaccid myelitis MONDO:0002565 NCIT:C128379 NCIT:C26832 myelitis -MONDO:0100151 nephropathic cystinosis MONDO:0016239 NCIT:C129932 NCIT:C2976 cystinosis -MONDO:0100164 permanent neonatal diabetes mellitus MONDO:0016391 NCIT:C114902 NCIT:C99248 neonatal diabetes mellitus -MONDO:0100250 46,XX sex reversal 1 MONDO:0100249 NCIT:C179867 NCIT:C127170 46,XX testicular disorder of sex development -MONDO:0100251 familial hyperphosphatemic tumoral calcinosis/hyperphosphatemic hyperostosis syndrome MONDO:0019052 NCIT:C131851 NCIT:C34816 inborn errors of metabolism MONDO:0100280 Waldenstrom macroglobulinemia MONDO:0000432 NCIT:C80307 NCIT:C3212 lymphoplasmacytic lymphoma -MONDO:0100285 extrahepatic biliary atresia MONDO:0008867 NCIT:C97069 NCIT:C34421 biliary atresia MONDO:0100290 colon serrated polyposis MONDO:0015524 NCIT:C96470 NCIT:C165469 hyperplastic polyposis syndrome MONDO:0100290 colon serrated polyposis MONDO:0021400 NCIT:C96470 NCIT:C2954 polyp of colon MONDO:0100291 early T cell progenitor acute lymphoblastic leukemia MONDO:0004963 NCIT:C130043 NCIT:C3183 T-cell acute lymphoblastic leukemia MONDO:0100342 malignant glioma MONDO:0002714 NCIT:C4822 NCIT:C4627 central nervous system cancer MONDO:0100342 malignant glioma MONDO:0021042 NCIT:C4822 NCIT:C3059 glioma -MONDO:0100345 lactose intolerance MONDO:0019214 NCIT:C3154 NCIT:C97089 inborn carbohydrate metabolic disorder -MONDO:0100345 lactose intolerance MONDO:0020598 NCIT:C3154 NCIT:C3214 malabsorption syndrome MONDO:0100409 acute myeloid leukemia, t(3;5)(q25;q34) MONDO:0018874 NCIT:C7600 NCIT:C3171 acute myeloid leukemia -MONDO:0100431 migraine without aura MONDO:0005277 NCIT:C117004 NCIT:C89715 migraine disorder -MONDO:0100471 vitamin D deficiency MONDO:0024298 NCIT:C114830 NCIT:C35772 vitamin deficiency disorder -MONDO:0100480 autoimmune primary adrenal insufficiency MONDO:0015129 NCIT:C113814 NCIT:C26689 chronic primary adrenal insufficiency -MONDO:0100492 Bonnevie-Ullrich syndrome MONDO:0002254 NCIT:C34434 NCIT:C28193 syndromic disease -MONDO:0100505 food dermatitis MONDO:0002406 NCIT:C34534 NCIT:C2983 dermatitis MONDO:0100514 familial ovarian carcinoma MONDO:0005140 NCIT:C36102 NCIT:C4908 ovarian carcinoma -MONDO:0700048 hand-foot syndrome MONDO:0002254 NCIT:C27177 NCIT:C28193 syndromic disease -MONDO:0700051 liver abscess (disease) MONDO:0005227 NCIT:C99089 NCIT:C26686 abscess +MONDO:0100534 SMARCB1-deficient kidney medullary carcinoma MONDO:0006260 NCIT:C189247 NCIT:C7572 kidney medullary carcinoma MONDO:0700135 bovine leukemia MONDO:0700134 NCIT:C131469 NCIT:C134527 bovine neoplasm MONDO:0700136 bovine protoporphyria MONDO:0700134 NCIT:C131472 NCIT:C134527 bovine neoplasm MONDO:0700137 bovine lymphosarcoma MONDO:0700134 NCIT:C134767 NCIT:C134527 bovine neoplasm @@ -5909,11 +4017,4 @@ MONDO:0700191 chicken fibrosarcoma MONDO:0700189 NCIT:C134557 NCIT:C135005 chick MONDO:0700192 chicken hepatoma MONDO:0700189 NCIT:C134558 NCIT:C135005 chicken neoplasm MONDO:0700193 chicken monocytic leukemia MONDO:0700189 NCIT:C134945 NCIT:C135005 chicken neoplasm MONDO:0700194 chicken lymphoma MONDO:0700189 NCIT:C135004 NCIT:C135005 chicken neoplasm -MONDO:0700218 group B streptococcal infection MONDO:0021680 NCIT:C87168 NCIT:C87062 streptococcal infection -MONDO:0800026 central hypoventilation syndrome, congenital, 1, with or without Hirschsprung disease MONDO:0002254 NCIT:C98889 NCIT:C28193 syndromic disease -MONDO:0800029 interstitial lung disease 2 MONDO:0002771 NCIT:C35716 NCIT:C26869 pulmonary fibrosis -MONDO:0800113 necrotizing vasculitis MONDO:0018882 NCIT:C70635 NCIT:C26912 vasculitis -MONDO:0800177 frostbite MONDO:0021178 NCIT:C34627 NCIT:C3671 injury MONDO:0858921 EWSR1-negative small round cell tumor MONDO:0006974 NCIT:C165671 NCIT:C3746 small cell sarcoma -MONDO:8000010 antiphospholipid syndrome MONDO:0002254 NCIT:C61283 NCIT:C28193 syndromic disease -MONDO:8000023 type 3 autoimmune lymphoproliferative syndrome MONDO:0017979 NCIT:C39577 NCIT:C37864 autoimmune lymphoproliferative syndrome diff --git a/src/ontology/reports/omim.subclass.added-obsolete.robot.tsv b/src/ontology/reports/omim.subclass.added-obsolete.robot.tsv index ad7b8dde..b681653a 100644 --- a/src/ontology/reports/omim.subclass.added-obsolete.robot.tsv +++ b/src/ontology/reports/omim.subclass.added-obsolete.robot.tsv @@ -1,13 +1,11 @@ subject_mondo_id subject_mondo_label object_mondo_id subject_source_id object_source_id object_mondo_label ID AI obo:mondo#excluded_subClassOf >A oboInOwl:source MONDO:0009827 obsolete pachyonychia congenita, autosomal recessive MONDO:0016471 OMIM:260130 OMIMPS:167200 pachyonychia congenita -MONDO:0010859 obsolete atrioventricular septal defect 3 MONDO:0020290 OMIM:600309 OMIMPS:606215 familial atrioventricular septal defect MONDO:0014709 obsolete Heimler syndrome 2 MONDO:0019234 OMIM:616617 OMIMPS:214100 peroxisome biogenesis disorder MONDO:0014755 skin creases, congenital symmetric circumferential, 2 MONDO:0000204 OMIM:616734 OMIMPS:156610 obsolete skin creases, congenital symmetric circumferential -MONDO:0014783 obsolete preimplantation embryonic lethality 1 MONDO:0000218 OMIM:616814 OMIMPS:616814 obsolete preimplantation embryonic lethality +MONDO:0014783 obsolete preimplantation embryonic lethality 1 MONDO:0014769 OMIM:616814 OMIMPS:615774 inherited oocyte maturation defect MONDO:0014826 obsolete nucleoside diphosphate-linked moiety X Motif 15 deficiency MONDO:0000210 OMIM:616903 OMIMPS:610460 thiopurine metabolic disease -MONDO:0014978 obsolete preimplantation embryonic lethality 2 MONDO:0000218 OMIM:617234 OMIMPS:616814 obsolete preimplantation embryonic lethality -MONDO:0018138 obsolete ocular albinism with congenital sensorineural hearing loss MONDO:0018094 OMIM:103470 OMIMPS:193500 Waardenburg syndrome +MONDO:0014978 obsolete preimplantation embryonic lethality 2 MONDO:0014769 OMIM:617234 OMIMPS:615774 inherited oocyte maturation defect MONDO:0018264 oculocutaneous albinism type 6 MONDO:0033196 OMIM:113750 OMIMPS:227220 obsolete skin/hair/eye pigmentation, variation in MONDO:0020738 multiple benign circumferential skin creases on limbs 1 MONDO:0000204 OMIM:156610 OMIMPS:156610 obsolete skin creases, congenital symmetric circumferential MONDO:0020784 obsolete short sleep, familial natural, 1 MONDO:0044278 OMIM:612975 OMIMPS:612975 obsolete short sleeper diff --git a/src/ontology/reports/omim.subclass.added.robot.tsv b/src/ontology/reports/omim.subclass.added.robot.tsv index c7f71db9..0f0b5c50 100644 --- a/src/ontology/reports/omim.subclass.added.robot.tsv +++ b/src/ontology/reports/omim.subclass.added.robot.tsv @@ -2,6 +2,7 @@ subject_mondo_id subject_mondo_label object_mondo_id subject_source_id object_so ID AI obo:mondo#excluded_subClassOf >A oboInOwl:source MONDO:0005260 autism MONDO:0020836 OMIM:209850 OMIMPS:209850 autism, susceptiblity to MONDO:0005579 epilepsy, idiopathic generalized MONDO:0005579 OMIM:600669 OMIMPS:600669 epilepsy, idiopathic generalized +MONDO:0007039 neurofibromatosis type 2 MONDO:0008075 OMIM:101000 OMIMPS:162091 schwannomatosis MONDO:0007617 Coffin-Siris syndrome 1 MONDO:0100172 OMIM:135900 OMIMPS:156200 intellectual disability, autosomal dominant MONDO:0007634 intellectual disability, FRA12A type MONDO:0100172 OMIM:136630 OMIMPS:156200 intellectual disability, autosomal dominant MONDO:0007669 renal cysts and diabetes syndrome MONDO:0000608 OMIM:137920 OMIMPS:162000 familial juvenile hyperuricemic nephropathy @@ -13,18 +14,22 @@ MONDO:0008570 thyrotoxic periodic paralysis, susceptibility to, 1 MONDO:0019201 MONDO:0008708 acrocallosal syndrome MONDO:0018772 OMIM:200990 OMIMPS:213300 Joubert syndrome MONDO:0008856 immunodeficiency 27A MONDO:0021094 OMIM:209950 OMIMPS:300755 immunodeficiency disease MONDO:0008905 predisposition to invasive fungal disease due to CARD9 deficiency MONDO:0015279 OMIM:212050 OMIMPS:114580 chronic mucocutaneous candidiasis +MONDO:0008905 predisposition to invasive fungal disease due to CARD9 deficiency MONDO:0021094 OMIM:212050 OMIMPS:300755 immunodeficiency disease MONDO:0008930 celiac disease, susceptibility to, 1 MONDO:0005130 OMIM:212750 OMIMPS:212750 celiac disease MONDO:0009068 cytochrome-c oxidase deficiency disease MONDO:0033885 OMIM:220110 OMIMPS:220110 mitochondrial complex IV deficiency, nuclear-type MONDO:0009069 congenital lactic acidosis, Saguenay-Lac-Saint-Jean type MONDO:0033885 OMIM:220111 OMIMPS:220110 mitochondrial complex IV deficiency, nuclear-type MONDO:0009080 split hand-foot malformation 1 with sensorineural hearing loss MONDO:0016576 OMIM:220600 OMIMPS:183600 split hand-foot malformation +MONDO:0009113 hemolytic anemia due to diphosphoglycerate mutase deficiency MONDO:0001115 OMIM:222800 OMIMPS:133100 familial polycythemia MONDO:0009131 Riley-Day syndrome MONDO:0015364 OMIM:223900 OMIMPS:162400 hereditary sensory and autonomic neuropathy MONDO:0009194 immunodeficiency 32B MONDO:0021094 OMIM:226990 OMIMPS:300755 immunodeficiency disease MONDO:0009305 granulocytopenia with immunoglobulin abnormality MONDO:0021094 OMIM:233600 OMIMPS:300755 immunodeficiency disease MONDO:0009335 hemolytic uremic syndrome, atypical, susceptibility to, 1 MONDO:0957097 OMIM:235400 OMIMPS:235400 hereditary hemolytic uremic syndrome MONDO:0009563 maple syrup urine disease MONDO:0009563 OMIM:248600 OMIMPS:248600 maple syrup urine disease +MONDO:0009650 mucolipidosis type II MONDO:0031422 OMIM:252500 OMIMPS:256550 familial mucolipidosis MONDO:0009681 Ullrich congenital muscular dystrophy 1 MONDO:0015152 OMIM:254090 OMIMPS:253600 autosomal recessive limb-girdle muscular dystrophy MONDO:0009696 juvenile myoclonic epilepsy MONDO:0009696 OMIM:254770 OMIMPS:254770 juvenile myoclonic epilepsy MONDO:0009724 nail-patella-like renal disease MONDO:0005363 OMIM:256020 OMIMPS:603278 inherited focal segmental glomerulosclerosis +MONDO:0009842 Pelger-Huet-like anomaly and episodic fever with abdominal pain MONDO:0021094 OMIM:260570 OMIMPS:300755 immunodeficiency disease MONDO:0009935 pulmonary hypertension, primary, autosomal recessive MONDO:0017148 OMIM:265400 OMIMPS:178600 heritable pulmonary arterial hypertension MONDO:0010278 Christianson syndrome MONDO:0020119 OMIM:300243 OMIMPS:309510 X-linked syndromic intellectual disability MONDO:0010284 Armfield syndrome MONDO:0020119 OMIM:300261 OMIMPS:309510 X-linked syndromic intellectual disability @@ -56,6 +61,7 @@ MONDO:0011362 myopathy, myofibrillar, 9, with early respiratory failure MONDO:00 MONDO:0011374 hypercholesterolemia, familial, 4 MONDO:0005439 OMIM:603813 OMIMPS:143890 familial hypercholesterolemia MONDO:0011387 psoriasis 4, susceptibility to MONDO:0005083 OMIM:603935 OMIMPS:177900 psoriasis MONDO:0011407 facial paresis, hereditary congenital, 2 MONDO:0011090 OMIM:604185 OMIMPS:601471 isolated hereditary congenital facial paralysis +MONDO:0011415 Leber congenital amaurosis 3 MONDO:0019200 OMIM:604232 OMIMPS:268000 retinitis pigmentosa MONDO:0011434 psoriasis 5, susceptibility to MONDO:0005083 OMIM:604316 OMIMPS:177900 psoriasis MONDO:0011451 cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1 MONDO:0033885 OMIM:604377 OMIMPS:220110 mitochondrial complex IV deficiency, nuclear-type MONDO:0011491 epilepsy, idiopathic generalized, susceptibility to, 7 MONDO:0005579 OMIM:604827 OMIMPS:600669 epilepsy, idiopathic generalized @@ -71,6 +77,7 @@ MONDO:0011608 dermatitis, atopic, 5 MONDO:0004980 OMIM:605844 OMIMPS:603165 atop MONDO:0011609 dermatitis, atopic, 6 MONDO:0004980 OMIM:605845 OMIMPS:603165 atopic eczema MONDO:0011650 atrioventricular septal defect, susceptibility to, 2 MONDO:0020290 OMIM:606217 OMIMPS:606215 familial atrioventricular septal defect MONDO:0011714 partial lipodystrophy, congenital cataracts, and neurodegeneration syndrome MONDO:0020088 OMIM:606721 OMIMPS:151660 familial partial lipodystrophy +MONDO:0011738 bilateral frontoparietal polymicrogyria MONDO:0000904 OMIM:606854 OMIMPS:614039 complex cortical dysplasia with other brain malformations MONDO:0011741 Hirschsprung disease, susceptibility to, 6 MONDO:0018309 OMIM:606874 OMIMPS:142623 Hirschsprung disease MONDO:0011742 Hirschsprung disease, susceptibility to, 7 MONDO:0018309 OMIM:606875 OMIMPS:142623 Hirschsprung disease MONDO:0011753 epilepsy, idiopathic generalized, susceptibility to, 2 MONDO:0005579 OMIM:606972 OMIMPS:600669 epilepsy, idiopathic generalized @@ -92,6 +99,7 @@ MONDO:0012113 epilepsy, idiopathic generalized, susceptibility to, 3 MONDO:00055 MONDO:0012130 myofibrillar myopathy 2 MONDO:0018943 OMIM:608810 OMIMPS:601419 myofibrillar myopathy MONDO:0012134 myoclonic epilepsy, juvenile, susceptibility to, 3 MONDO:0009696 OMIM:608816 OMIMPS:254770 juvenile myoclonic epilepsy MONDO:0012141 orofacial cleft 6, susceptibility to MONDO:0000358 OMIM:608864 OMIMPS:119530 orofacial cleft +MONDO:0012161 susceptibility to respiratory infections associated with CD8alpha chain mutation MONDO:0021094 OMIM:608957 OMIMPS:300755 immunodeficiency disease MONDO:0012212 Loeys-Dietz syndrome 1 MONDO:0019625 OMIM:609192 OMIMPS:607086 familial thoracic aortic aneurysm and aortic dissection MONDO:0012317 visceral neuropathy, familial, 3, autosomal dominant MONDO:0023961 OMIM:609629 OMIMPS:243180 visceral neuropathy, familial MONDO:0012338 epilepsy, idiopathic generalized, susceptibility to, 4 MONDO:0005579 OMIM:609750 OMIMPS:600669 epilepsy, idiopathic generalized @@ -115,6 +123,7 @@ MONDO:0012702 celiac disease, susceptibility to, 6 MONDO:0005130 OMIM:611598 OMI MONDO:0012710 Hirschsprung disease, susceptibility to, 9 MONDO:0018309 OMIM:611644 OMIMPS:142623 Hirschsprung disease MONDO:0012737 long QT syndrome 10 MONDO:0018054 OMIM:611819 OMIMPS:608583 familial atrial fibrillation MONDO:0012744 dilated cardiomyopathy 1Y MONDO:0016333 OMIM:611878 OMIMPS:115200 familial dilated cardiomyopathy +MONDO:0012747 glycogen storage disease due to aldolase A deficiency MONDO:0002412 OMIM:611881 OMIMPS:232200 disorder of glycogen metabolism MONDO:0012756 proximal 16p11.2 microdeletion syndrome MONDO:0020836 OMIM:611913 OMIMPS:209850 autism, susceptiblity to MONDO:0012760 epilepsy, idiopathic generalized, susceptibility to, 5 MONDO:0005579 OMIM:611934 OMIMPS:600669 epilepsy, idiopathic generalized MONDO:0012763 epilepsy, childhood absence, susceptibility to, 6 MONDO:0005579 OMIM:611942 OMIMPS:600669 epilepsy, idiopathic generalized @@ -147,6 +156,7 @@ MONDO:0013146 Brugada syndrome 7 MONDO:0018054 OMIM:613120 OMIMPS:608583 familia MONDO:0013193 thyrotoxic periodic paralysis, susceptibility to, 2 MONDO:0019201 OMIM:613239 OMIMPS:188580 thyrotoxic periodic paralysis MONDO:0013261 dilated cardiomyopathy 1R MONDO:0016333 OMIM:613424 OMIMPS:115200 familial dilated cardiomyopathy MONDO:0013262 dilated cardiomyopathy 1S MONDO:0016333 OMIM:613426 OMIMPS:115200 familial dilated cardiomyopathy +MONDO:0013263 retinitis pigmentosa 54 MONDO:0015993 OMIM:613428 OMIMPS:120970 cone-rod dystrophy MONDO:0013294 dermatitis, atopic, 8 MONDO:0004980 OMIM:613518 OMIMPS:603165 atopic eczema MONDO:0013295 dermatitis, atopic, 9 MONDO:0004980 OMIM:613519 OMIMPS:603165 atopic eczema MONDO:0013340 Parkinson disease 5, autosomal dominant, susceptibility to MONDO:0005180 OMIM:613643 OMIMPS:168600 Parkinson disease @@ -167,6 +177,7 @@ MONDO:0013633 encephalopathy, acute, infection-induced, susceptibility to, 4 MON MONDO:0013639 narcolepsy 6, susceptibility to MONDO:0021107 OMIM:614223 OMIMPS:161400 narcolepsy MONDO:0013653 Parkinson disease 18, autosomal dominant, susceptibility to MONDO:0005180 OMIM:614251 OMIMPS:168600 Parkinson disease MONDO:0013665 epilepsy, juvenile myoclonic, susceptibility to, 9 MONDO:0009696 OMIM:614280 OMIMPS:254770 juvenile myoclonic epilepsy +MONDO:0013805 intellectual disability, autosomal dominant 13 MONDO:0000904 OMIM:614563 OMIMPS:614039 complex cortical dysplasia with other brain malformations MONDO:0013819 intellectual disability, autosomal dominant 14 MONDO:0100172 OMIM:614607 OMIMPS:156200 intellectual disability, autosomal dominant MONDO:0013820 intellectual disability, autosomal dominant 15 MONDO:0100172 OMIM:614608 OMIMPS:156200 intellectual disability, autosomal dominant MONDO:0013821 intellectual disability, autosomal dominant 16 MONDO:0100172 OMIM:614609 OMIMPS:156200 intellectual disability, autosomal dominant @@ -181,6 +192,7 @@ MONDO:0013954 Mendelian susceptibility to mycobacterial diseases due to complete MONDO:0013955 Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency MONDO:0021094 OMIM:614891 OMIMPS:300755 immunodeficiency disease MONDO:0013956 Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency MONDO:0021094 OMIM:614892 OMIMPS:300755 immunodeficiency disease MONDO:0013957 Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency MONDO:0021094 OMIM:614893 OMIMPS:300755 immunodeficiency disease +MONDO:0013968 PGM1-congenital disorder of glycosylation MONDO:0002412 OMIM:614921 OMIMPS:232200 disorder of glycogen metabolism MONDO:0014005 immunoglobulin-mediated membranoproliferative glomerulonephritis MONDO:0957097 OMIM:615008 OMIMPS:235400 hereditary hemolytic uremic syndrome MONDO:0014016 hereditary spastic paraplegia 49 MONDO:0015364 OMIM:615031 OMIMPS:162400 hereditary sensory and autonomic neuropathy MONDO:0014051 cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2 MONDO:0033885 OMIM:615119 OMIMPS:220110 mitochondrial complex IV deficiency, nuclear-type @@ -198,6 +210,7 @@ MONDO:0014266 age related macular degeneration 15 MONDO:0005150 OMIM:615591 OMIM MONDO:0014273 microcephaly-thin corpus callosum-intellectual disability syndrome MONDO:0019502 OMIM:615599 OMIMPS:249500 autosomal recessive non-syndromic intellectual disability MONDO:0014289 macrocephaly-developmental delay syndrome MONDO:0019502 OMIM:615637 OMIMPS:249500 autosomal recessive non-syndromic intellectual disability MONDO:0014313 autosomal recessive primary immunodeficiency with defective spontaneous natural killer cell cytotoxicity MONDO:0021094 OMIM:615707 OMIMPS:300755 immunodeficiency disease +MONDO:0014333 polymicrogyria, bilateral perisylvian, autosomal recessive MONDO:0000904 OMIM:615752 OMIMPS:614039 complex cortical dysplasia with other brain malformations MONDO:0014336 intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency MONDO:0100172 OMIM:615761 OMIMPS:156200 intellectual disability, autosomal dominant MONDO:0014429 autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency MONDO:0021094 OMIM:615978 OMIMPS:300755 immunodeficiency disease MONDO:0014482 intellectual disability, autosomal dominant 29 MONDO:0100172 OMIM:616078 OMIMPS:156200 intellectual disability, autosomal dominant @@ -208,7 +221,6 @@ MONDO:0014502 Mendelian susceptibility to mycobacterial diseases due to complete MONDO:0014520 46,XX ovarian dysgenesis-short stature syndrome MONDO:0009299 OMIM:616185 OMIMPS:233300 46 XX gonadal dysgenesis MONDO:0014559 progressive essential tremor-speech impairment-facial dysmorphism-intellectual disability-abnormal behavior syndrome MONDO:0019502 OMIM:616269 OMIMPS:249500 autosomal recessive non-syndromic intellectual disability MONDO:0014597 immunodeficiency 39 MONDO:0021094 OMIM:616345 OMIMPS:300755 immunodeficiency disease -MONDO:0014605 microcephaly-corpus callosum hypoplasia-intellectual disability-facial dysmorphism syndrome MONDO:0100172 OMIM:616362 OMIMPS:156200 intellectual disability, autosomal dominant MONDO:0014667 cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 3 MONDO:0033885 OMIM:616500 OMIMPS:220110 mitochondrial complex IV deficiency, nuclear-type MONDO:0014668 cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 4 MONDO:0033885 OMIM:616501 OMIMPS:220110 mitochondrial complex IV deficiency, nuclear-type MONDO:0014680 herpes simplex encephalitis, susceptibility to, 7 MONDO:0000166 OMIM:616532 OMIMPS:610551 encephalopathy, acute, infection-induced @@ -242,11 +254,15 @@ MONDO:0030872 frontotemporal dementia and/or amyotrophic lateral sclerosis 8 MON MONDO:0030875 frontotemporal dementia and/or amyotrophic lateral sclerosis 5 MONDO:0017161 OMIM:619141 OMIMPS:105550 frontotemporal dementia with motor neuron disease MONDO:0030928 microcephaly 26, primary, autosomal dominant MONDO:0016660 OMIM:619179 OMIMPS:251200 autosomal recessive primary microcephaly MONDO:0030929 microcephaly 27, primary, autosomal dominant MONDO:0016660 OMIM:619180 OMIMPS:251200 autosomal recessive primary microcephaly +MONDO:0031008 nephrotic syndrome, type 24 MONDO:0002350 OMIM:619263 OMIMPS:256300 familial nephrotic syndrome +MONDO:0032659 mucocutaneous ulceration, chronic MONDO:0031384 OMIM:618287 OMIMPS:616744 autoinflammatory syndrome, familial, Behcet-like MONDO:0032699 epilepsy, idiopathic generalized, susceptibility to, 15 MONDO:0005579 OMIM:618357 OMIMPS:600669 epilepsy, idiopathic generalized MONDO:0032702 Coffin-Siris syndrome 8 MONDO:0100172 OMIM:618362 OMIMPS:156200 intellectual disability, autosomal dominant MONDO:0032742 encephalopathy, acute, infection-induced, susceptibility to, 9 MONDO:0000166 OMIM:618426 OMIMPS:610551 encephalopathy, acute, infection-induced MONDO:0032827 epilepsy, idiopathic generalized, susceptibility to, 16 MONDO:0005579 OMIM:618596 OMIMPS:600669 epilepsy, idiopathic generalized MONDO:0032853 myopathy, distal, 6, adult-onset, autosomal dominant MONDO:0018949 OMIM:618655 OMIMPS:160500 distal myopathy +MONDO:0032862 hydrocephalus, congenital communicating, 1 MONDO:0016349 OMIM:618667 OMIMPS:236600 congenital hydrocephalus +MONDO:0032893 pachygyria, microcephaly, developmental delay, and dysmorphic facies, with or without seizures MONDO:0000904 OMIM:618737 OMIMPS:614039 complex cortical dysplasia with other brain malformations MONDO:0033044 Meckel syndrome 13 MONDO:0018772 OMIM:617562 OMIMPS:213300 Joubert syndrome MONDO:0033492 Coffin-Siris syndrome 6 MONDO:0015452 OMIM:617808 OMIMPS:135900 Coffin-Siris syndrome MONDO:0033560 mitochondrial complex 1 deficiency, nuclear type 35 MONDO:0100223 OMIM:619003 OMIMPS:252010 mitochondrial complex I deficiency, nuclear type @@ -269,3 +285,5 @@ MONDO:0100519 epilepsy, idiopathic generalized, susceptibility to, 17 MONDO:0018 MONDO:0800187 immunodeficiency 83, susceptibility to viral infections MONDO:0000166 OMIM:613002 OMIMPS:610551 encephalopathy, acute, infection-induced MONDO:0800187 immunodeficiency 83, susceptibility to viral infections MONDO:0021094 OMIM:613002 OMIMPS:300755 immunodeficiency disease MONDO:0800447 bleeding disorder, platelet-type, 13, susceptibility to MONDO:0000009 OMIM:614009 OMIMPS:231200 inherited bleeding disorder, platelet-type +MONDO:0859183 Parkinson disease 24, autosomal dominant, susceptibility to MONDO:0005180 OMIM:619491 OMIMPS:168600 Parkinson disease +MONDO:0859376 hydrocephalus, congenital, 5, susceptibility to MONDO:0016349 OMIM:620241 OMIMPS:236600 congenital hydrocephalus diff --git a/src/ontology/reports/omim.subclass.confirmed.robot.tsv b/src/ontology/reports/omim.subclass.confirmed.robot.tsv index 57ef8e5f..da93fc15 100644 --- a/src/ontology/reports/omim.subclass.confirmed.robot.tsv +++ b/src/ontology/reports/omim.subclass.confirmed.robot.tsv @@ -1,5 +1,6 @@ subject_mondo_id subject_mondo_label object_mondo_id subject_source_id object_source_id object_mondo_label ID SC % >A oboInOwl:source +MONDO:0000208 microcephaly, short stature, and impaired glucose metabolism 1 MONDO:0800450 OMIM:616033 OMIMPS:616033 microcephaly, short stature, and impaired glucose metabolism MONDO:0000908 arrhythmogenic right ventricular dysplasia 13 MONDO:0016342 OMIM:615616 OMIMPS:107970 familial isolated arrhythmogenic right ventricular dysplasia MONDO:0000910 retinitis pigmentosa 6 MONDO:0019200 OMIM:312612 OMIMPS:268000 retinitis pigmentosa MONDO:0000912 autosomal recessive nonsyndromic hearing loss 5 MONDO:0019588 OMIM:600792 OMIMPS:220290 hearing loss, autosomal recessive @@ -8,6 +9,7 @@ MONDO:0007044 Acrodysostosis 1 with or without hormone resistance MONDO:0019797 MONDO:0007052 growth hormone secreting pituitary adenoma 1 MONDO:0017824 OMIM:102200 OMIMPS:102200 familial isolated pituitary adenoma MONDO:0007053 restless legs syndrome, susceptibility to, 1 MONDO:0100170 OMIM:102300 OMIMPS:102300 restless legs syndrome, susceptibility to MONDO:0007060 spermatogenic failure 6 MONDO:0004983 OMIM:102530 OMIMPS:258150 spermatogenic failure +MONDO:0007064 severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency MONDO:0031520 OMIM:102700 OMIMPS:601457 familial severe combined immunodeficiency MONDO:0007080 glucocorticoid-remediable aldosteronism MONDO:0016525 OMIM:103900 OMIMPS:103900 familial hyperaldosteronism MONDO:0007082 alopecia areata 1 MONDO:0000005 OMIM:104000 OMIMPS:203655 alopecia, isolated MONDO:0007084 familial focal alopecia MONDO:0000005 OMIM:104110 OMIMPS:203655 alopecia, isolated @@ -84,16 +86,20 @@ MONDO:0007559 photoparoxysmal response 1 MONDO:0015643 OMIM:132100 OMIMPS:132100 MONDO:0007561 multiple epiphyseal dysplasia type 1 MONDO:0016648 OMIM:132400 OMIMPS:132400 multiple epiphyseal dysplasia MONDO:0007568 aortic aneurysm, familial thoracic 4 MONDO:0019625 OMIM:132900 OMIMPS:607086 familial thoracic aortic aneurysm and aortic dissection MONDO:0007572 primary familial polycythemia due to EPO receptor mutation MONDO:0001115 OMIM:133100 OMIMPS:133100 familial polycythemia +MONDO:0007585 exostoses, multiple, type 1 MONDO:0005508 OMIM:133700 OMIMPS:133700 hereditary multiple osteochondromas +MONDO:0007586 exostoses, multiple, type 2 MONDO:0005508 OMIM:133701 OMIMPS:133700 hereditary multiple osteochondromas MONDO:0007589 exudative vitreoretinopathy 1 MONDO:0019516 OMIM:133780 OMIMPS:133780 exudative vitreoretinopathy MONDO:0007609 fibromatosis, gingival, 1 MONDO:0016070 OMIM:135300 OMIMPS:135300 hereditary gingival fibromatosis MONDO:0007617 Coffin-Siris syndrome 1 MONDO:0015452 OMIM:135900 OMIMPS:135900 Coffin-Siris syndrome MONDO:0007627 focal facial dermal dysplasia type I MONDO:0018363 OMIM:136500 OMIMPS:136500 focal facial dermal dysplasia MONDO:0007628 foveal hypoplasia 1 MONDO:0044203 OMIM:136520 OMIMPS:136520 foveal hypoplasia +MONDO:0007630 North Carolina macular dystrophy MONDO:0031166 OMIM:136550 OMIMPS:136550 macular dystrophy, retinal MONDO:0007636 frontorhiny MONDO:0016643 OMIM:136760 OMIMPS:136760 frontonasal dysplasia MONDO:0007637 corneal dystrophy, Fuchs endothelial, 1 MONDO:0005321 OMIM:136800 OMIMPS:136800 Fuchs' endothelial dystrophy MONDO:0007681 goiter, multinodular 1, with or without Sertoli-Leydig cell tumors MONDO:0000334 OMIM:138800 OMIMPS:138800 multinodular goiter MONDO:0007686 gray platelet syndrome MONDO:0000009 OMIM:139090 OMIMPS:231200 inherited bleeding disorder, platelet-type MONDO:0007701 progressive familial heart block type II MONDO:0019490 OMIM:140400 OMIMPS:113900 progressive familial heart block +MONDO:0007719 diaphragmatic hernia 1 MONDO:0005711 OMIM:142340 OMIMPS:142340 congenital diaphragmatic hernia MONDO:0007728 acne inversa, familial, 1 MONDO:0024516 OMIM:142690 OMIMPS:142690 familial acne inversa MONDO:0007729 developmental dysplasia of the hip 1 MONDO:0000158 OMIM:142700 OMIMPS:142700 developmental dysplasia of the hip MONDO:0007733 holoprosencephaly 3 MONDO:0016296 OMIM:142945 OMIMPS:236100 holoprosencephaly @@ -109,6 +115,8 @@ MONDO:0007792 familial hypocalciuric hypercalcemia 2 MONDO:0018458 OMIM:145981 O MONDO:0007796 hypoparathyroidism, familial isolated 1 MONDO:0016390 OMIM:146200 OMIMPS:146200 familial hypoparathyroidism MONDO:0007802 hypospadias 3, autosomal MONDO:0005345 OMIM:146450 OMIMPS:300633 hypospadias MONDO:0007805 hypotrichosis 2 MONDO:0003037 OMIM:146520 OMIMPS:605389 hypotrichosis +MONDO:0007808 ichthyosis hystrix of Curth-Macklin MONDO:0859383 OMIM:146590 OMIMPS:146590 ichthyosis hystrix +MONDO:0007809 ichthyosis histrix, Lambert type MONDO:0859383 OMIM:146600 OMIMPS:146590 ichthyosis hystrix MONDO:0007818 hyper-IgE recurrent infection syndrome 1, autosomal dominant MONDO:0018037 OMIM:147060 OMIMPS:147060 hyper-IgE syndrome MONDO:0007843 Kabuki syndrome 1 MONDO:0016512 OMIM:147920 OMIMPS:147920 Kabuki syndrome MONDO:0007850 autosomal dominant keratitis-ichthyosis-hearing loss syndrome MONDO:0018781 OMIM:148210 OMIMPS:148210 KID syndrome @@ -162,6 +170,7 @@ MONDO:0008173 pachyonychia congenita 1 MONDO:0016471 OMIM:167200 OMIMPS:167200 p MONDO:0008174 pachyonychia congenita 2 MONDO:0016471 OMIM:167210 OMIMPS:167200 pachyonychia congenita MONDO:0008176 Paget disease of bone 3 MONDO:0005382 OMIM:167250 OMIMPS:167250 bone Paget disease MONDO:0008178 inclusion body myopathy with Paget disease of bone and frontotemporal dementia type 1 MONDO:0000507 OMIM:167320 OMIMPS:167320 inclusion body myopathy with Paget disease of bone and frontotemporal dementia +MONDO:0008187 panic disorder 1 MONDO:0031240 OMIM:167870 OMIMPS:167870 familial panic disorder MONDO:0008192 paragangliomas 1 MONDO:0000448 OMIM:168000 OMIMPS:168000 paraganglioma MONDO:0008197 parietal foramina 1 MONDO:0018953 OMIM:168500 OMIMPS:168500 parietal foramina MONDO:0008199 late-onset Parkinson disease MONDO:0005180 OMIM:168600 OMIMPS:168600 Parkinson disease @@ -187,10 +196,12 @@ MONDO:0008378 retinitis pigmentosa 9 MONDO:0019200 OMIM:180104 OMIMPS:268000 ret MONDO:0008379 retinitis pigmentosa 10 MONDO:0019200 OMIM:180105 OMIMPS:268000 retinitis pigmentosa MONDO:0008386 Axenfeld-Rieger syndrome type 1 MONDO:0019187 OMIM:180500 OMIMPS:180500 Axenfeld-Rieger syndrome MONDO:0008393 Rubinstein-Taybi syndrome due to CREBBP mutations MONDO:0019188 OMIM:180849 OMIMPS:180849 Rubinstein-Taybi syndrome +MONDO:0008409 congenital myopathy 7A, myosin storage, autosomal dominant MONDO:0019952 OMIM:608358 OMIMPS:117000 congenital myopathy MONDO:0008422 autosomal dominant sideroblastic anemia MONDO:0020099 OMIM:182170 OMIMPS:300751 inherited sideroblastic anemia MONDO:0008428 septooptic dysplasia MONDO:0013099 OMIM:182230 OMIMPS:613038 combined pituitary hormone deficiencies, genetic form MONDO:0008437 hereditary spastic paraplegia 3A MONDO:0019064 OMIM:182600 OMIMPS:303350 hereditary spastic paraplegia MONDO:0008438 hereditary spastic paraplegia 4 MONDO:0019064 OMIM:182601 OMIMPS:303350 hereditary spastic paraplegia +MONDO:0008451 neuronopathy, distal hereditary motor, autosomal dominant 1 MONDO:0015362 OMIM:182960 OMIMPS:182960 neuronopathy, distal hereditary motor, autosomal dominant MONDO:0008458 spinocerebellar ataxia type 2 MONDO:0005144 OMIM:183090 OMIMPS:105400 familial amyotrophic lateral sclerosis MONDO:0008464 split hand-foot malformation 1 MONDO:0016576 OMIM:183600 OMIMPS:183600 split hand-foot malformation MONDO:0008468 spondyloarthropathy, susceptibility to, 2 MONDO:0024512 OMIM:183840 OMIMPS:106300 spondyloarthropathy, susceptibility to @@ -217,7 +228,7 @@ MONDO:0008612 tuberous sclerosis 1 MONDO:0001734 OMIM:191100 OMIMPS:191100 tuber MONDO:0008617 inflammatory bowel disease 11 MONDO:0005265 OMIM:191390 OMIMPS:266600 inflammatory bowel disease MONDO:0008647 hypertrophic cardiomyopathy 1 MONDO:0024573 OMIM:192600 OMIMPS:192600 familial hypertrophic cardiomyopathy MONDO:0008653 vesicoureteral reflux 1 MONDO:0017329 OMIM:193000 OMIMPS:193000 familial vesicoureteral reflux -MONDO:0008654 spinocerebellar ataxia 27A MONDO:0005712 OMIM:193003 OMIMPS:310700 congenital nystagmus +MONDO:0008654 spinocerebellar ataxia 27A MONDO:0020380 OMIM:193003 OMIMPS:164400 autosomal dominant cerebellar ataxia MONDO:0008660 autosomal dominant hypophosphatemic rickets MONDO:0000044 OMIM:193100 OMIMPS:193100 hereditary hypophosphatemic rickets MONDO:0008670 Waardenburg syndrome type 1 MONDO:0018094 OMIM:193500 OMIMPS:193500 Waardenburg syndrome MONDO:0008675 Freeman-Sheldon syndrome MONDO:0019942 OMIM:193700 OMIMPS:108120 distal arthrogryposis @@ -246,6 +257,7 @@ MONDO:0008823 arthrogryposis multiplex congenita 2, neurogenic type MONDO:001516 MONDO:0008831 asphyxiating thoracic dystrophy 1 MONDO:0018770 OMIM:208500 OMIMPS:208500 Jeune syndrome MONDO:0008833 renal-hepatic-pancreatic dysplasia 1 MONDO:0017417 OMIM:208540 OMIMPS:208540 renal-hepatic-pancreatic dysplasia MONDO:0008854 Bardet-Biedl syndrome 1 MONDO:0015229 OMIM:209900 OMIMPS:209900 Bardet-Biedl syndrome +MONDO:0008855 MHC class II deficiency MONDO:0031520 OMIM:209920 OMIMPS:601457 familial severe combined immunodeficiency MONDO:0008861 3-methylcrotonyl-CoA carboxylase 1 deficiency MONDO:0018950 OMIM:210200 OMIMPS:210200 3-methylcrotonyl-CoA carboxylase deficiency MONDO:0008862 3-methylcrotonyl-CoA carboxylase 2 deficiency MONDO:0018950 OMIM:210210 OMIMPS:210200 3-methylcrotonyl-CoA carboxylase deficiency MONDO:0008869 Seckel syndrome 1 MONDO:0019342 OMIM:210600 OMIMPS:210600 Seckel syndrome @@ -253,6 +265,7 @@ MONDO:0008876 Bloom syndrome MONDO:0020629 OMIM:210900 OMIMPS:210900 microcephal MONDO:0008892 progressive familial intrahepatic cholestasis type 1 MONDO:0015762 OMIM:211600 OMIMPS:211600 progressive familial intrahepatic cholestasis MONDO:0008907 PMM2-congenital disorder of glycosylation MONDO:0005500 OMIM:212065 OMIMPS:212065 congenital disorder of glycosylation type I MONDO:0008908 MGAT2-congenital disorder of glycosylation MONDO:0005501 OMIM:212066 OMIMPS:212066 congenital disorder of glycosylation type II +MONDO:0008913 cardiac valvular defect, developmental MONDO:0031323 OMIM:212093 OMIMPS:212093 cardiac valvular defect MONDO:0008922 Sengers syndrome MONDO:0018158 OMIM:212350 OMIMPS:603041 mitochondrial DNA depletion syndrome MONDO:0008944 Joubert syndrome 1 MONDO:0018772 OMIM:213300 OMIMPS:213300 Joubert syndrome MONDO:0008955 cerebrooculofacioskeletal syndrome 1 MONDO:0008926 OMIM:214150 OMIMPS:214150 COFS syndrome @@ -268,6 +281,7 @@ MONDO:0009073 Ritscher-Schinzel syndrome 1 MONDO:0019078 OMIM:220210 OMIMPS:2202 MONDO:0009076 autosomal recessive nonsyndromic hearing loss 1A MONDO:0019588 OMIM:220290 OMIMPS:220290 hearing loss, autosomal recessive MONDO:0009091 non-acquired combined pituitary hormone deficiency with spine abnormalities MONDO:0013099 OMIM:221750 OMIMPS:613038 combined pituitary hormone deficiencies, genetic form MONDO:0009097 persistent hyperplastic primary vitreous, autosomal recessive MONDO:0019631 OMIM:221900 OMIMPS:221900 persistent hyperplastic primary vitreous +MONDO:0009103 diaphragmatic hernia 2 MONDO:0005711 OMIM:222400 OMIMPS:142340 congenital diaphragmatic hernia MONDO:0009112 rhizomelic chondrodysplasia punctata type 2 MONDO:0015776 OMIM:222765 OMIMPS:215100 rhizomelic chondrodysplasia punctata MONDO:0009123 orthostatic hypotension 1 MONDO:0021272 OMIM:223360 OMIMPS:223360 inherited orthostatic hypotension MONDO:0009134 congenital dyserythropoietic anemia type 2 MONDO:0019403 OMIM:224100 OMIMPS:224120 congenital dyserythropoietic anemia @@ -300,6 +314,12 @@ MONDO:0009257 galactose epimerase deficiency MONDO:0018116 OMIM:230350 OMIMPS:23 MONDO:0009258 classic galactosemia MONDO:0018116 OMIM:230400 OMIMPS:230400 galactosemia MONDO:0009269 geleophysic dysplasia 1 MONDO:0000127 OMIM:231050 OMIMPS:231050 geleophysic dysplasia MONDO:0009276 Bernard-Soulier syndrome MONDO:0000009 OMIM:231200 OMIMPS:231200 inherited bleeding disorder, platelet-type +MONDO:0009290 glycogen storage disease II MONDO:0002412 OMIM:232300 OMIMPS:232200 disorder of glycogen metabolism +MONDO:0009291 glycogen storage disease III MONDO:0002412 OMIM:232400 OMIMPS:232200 disorder of glycogen metabolism +MONDO:0009292 glycogen storage disease due to glycogen branching enzyme deficiency MONDO:0002412 OMIM:232500 OMIMPS:232200 disorder of glycogen metabolism +MONDO:0009293 glycogen storage disease V MONDO:0002412 OMIM:232600 OMIMPS:232200 disorder of glycogen metabolism +MONDO:0009294 glycogen storage disease VI MONDO:0002412 OMIM:232700 OMIMPS:232200 disorder of glycogen metabolism +MONDO:0009295 glycogen storage disease VII MONDO:0002412 OMIM:232800 OMIMPS:232200 disorder of glycogen metabolism MONDO:0009300 Perrault syndrome 1 MONDO:0017312 OMIM:233400 OMIMPS:233400 Perrault syndrome MONDO:0009301 46,XY sex reversal 7 MONDO:0010765 OMIM:233420 OMIMPS:400044 46,XY complete gonadal dysgenesis MONDO:0009308 granulomatous disease, chronic, autosomal recessive, cytochrome b-negative MONDO:0018305 OMIM:233690 OMIMPS:306400 chronic granulomatous disease @@ -320,6 +340,7 @@ MONDO:0009383 transient familial neonatal hyperbilirubinemia MONDO:0002408 OMIM: MONDO:0009394 juvenile Paget disease MONDO:0005382 OMIM:239000 OMIMPS:167250 bone Paget disease MONDO:0009398 hyperphosphatasia with intellectual disability syndrome 1 MONDO:0016596 OMIM:239300 OMIMPS:239300 hyperphosphatasia-intellectual disability syndrome MONDO:0009413 immunodeficiency, common variable, 2 MONDO:0015517 OMIM:240500 OMIMPS:607594 common variable immunodeficiency +MONDO:0009414 glycogen storage disorder due to hepatic glycogen synthase deficiency MONDO:0002412 OMIM:240600 OMIMPS:232200 disorder of glycogen metabolism MONDO:0009424 Bartter disease type 2 MONDO:0015231 OMIM:241200 OMIMPS:601678 Bartter syndrome MONDO:0009433 hypoplastic left heart syndrome 1 MONDO:0004933 OMIM:241550 OMIMPS:241550 hypoplastic left heart syndrome MONDO:0009434 hypoproteinemia, hypercatabolic MONDO:0021094 OMIM:241600 OMIMPS:300755 immunodeficiency disease @@ -357,6 +378,8 @@ MONDO:0009643 sulfite oxidase deficiency due to molybdenum cofactor deficiency t MONDO:0009644 sulfite oxidase deficiency due to molybdenum cofactor deficiency type B MONDO:0020480 OMIM:252160 OMIMPS:252150 sulfite oxidase deficiency due to molybdenum cofactor deficiency MONDO:0009646 monosomy 7 myelodysplasia and leukemia syndrome 1 MONDO:0044645 OMIM:252270 OMIMPS:252270 familial monosomy 7 syndrome MONDO:0009649 moyamoya disease 1 MONDO:0016820 OMIM:252350 OMIMPS:252350 Moyamoya disease +MONDO:0009652 GNPTG-mucolipidosis MONDO:0031422 OMIM:252605 OMIMPS:256550 familial mucolipidosis +MONDO:0009653 mucolipidosis type IV MONDO:0031422 OMIM:252650 OMIMPS:256550 familial mucolipidosis MONDO:0009661 mucopolysaccharidosis type 6 MONDO:0019249 OMIM:253200 OMIMPS:607014 mucopolysaccharidosis MONDO:0009662 mucopolysaccharidosis type 7 MONDO:0019249 OMIM:253220 OMIMPS:607014 mucopolysaccharidosis MONDO:0009667 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3 MONDO:0000171 OMIM:253280 OMIMPS:236670 muscular dystrophy-dystroglycanopathy, type A @@ -371,13 +394,16 @@ MONDO:0009689 congenital myasthenic syndrome 6 MONDO:0018940 OMIM:254210 OMIMPS: MONDO:0009697 Lafora disease MONDO:0020074 OMIM:254780 OMIMPS:254800 progressive myoclonus epilepsy MONDO:0009698 Unverricht-Lundborg syndrome MONDO:0020074 OMIM:254800 OMIMPS:254800 progressive myoclonus epilepsy MONDO:0009699 action myoclonus-renal failure syndrome MONDO:0020074 OMIM:254900 OMIMPS:254800 progressive myoclonus epilepsy +MONDO:0009708 myopathy, myosin storage, autosomal recessive MONDO:0019952 OMIM:255160 OMIMPS:117000 congenital myopathy MONDO:0009713 myopia 18, autosomal recessive MONDO:0001384 OMIM:255500 OMIMPS:160700 myopia +MONDO:0009722 Bailey-Bloch congenital myopathy MONDO:0019952 OMIM:255995 OMIMPS:117000 congenital myopathy MONDO:0009727 atelosteogenesis type II MONDO:0000389 OMIM:256050 OMIMPS:108720 atelosteogenesis MONDO:0009728 nephronophthisis 1 MONDO:0019005 OMIM:256100 OMIMPS:256100 nephronophthisis MONDO:0009732 congenital nephrotic syndrome, Finnish type MONDO:0002350 OMIM:256300 OMIMPS:256300 familial nephrotic syndrome MONDO:0009733 nephrotic syndrome, type 4 MONDO:0002350 OMIM:256370 OMIMPS:256300 familial nephrotic syndrome MONDO:0009734 hyperinsulinemic hypoglycemia, familial, 1 MONDO:0005803 OMIM:256450 OMIMPS:256450 hyperinsulinemic hypoglycemia MONDO:0009736 Neu-Laxova syndrome 1 MONDO:0000179 OMIM:256520 OMIMPS:256520 Neu-Laxova syndrome +MONDO:0009738 sialidosis type 2 MONDO:0031422 OMIM:256550 OMIMPS:256550 familial mucolipidosis MONDO:0009744 neuronal ceroid lipofuscinosis 1 MONDO:0016295 OMIM:256730 OMIMPS:256730 neuronal ceroid lipofuscinosis MONDO:0009745 neuronal ceroid lipofuscinosis 5 MONDO:0016295 OMIM:256731 OMIMPS:256730 neuronal ceroid lipofuscinosis MONDO:0009746 hereditary sensory and autonomic neuropathy type 4 MONDO:0015364 OMIM:256800 OMIMPS:162400 hereditary sensory and autonomic neuropathy @@ -402,6 +428,9 @@ MONDO:0009818 autosomal recessive osteopetrosis 3 MONDO:0019026 OMIM:259730 OMIM MONDO:0009823 primary hyperoxaluria type 1 MONDO:0002474 OMIM:259900 OMIMPS:259900 primary hyperoxaluria MONDO:0009824 primary hyperoxaluria type 2 MONDO:0002474 OMIM:260000 OMIMPS:259900 primary hyperoxaluria MONDO:0009830 parkinsonian-pyramidal syndrome MONDO:0005180 OMIM:260300 OMIMPS:168600 Parkinson disease +MONDO:0009865 glycogen storage disease due to phosphoglycerate mutase deficiency MONDO:0002412 OMIM:261670 OMIMPS:232200 disorder of glycogen metabolism +MONDO:0009867 lethal congenital glycogen storage disease of heart MONDO:0002412 OMIM:261740 OMIMPS:232200 disorder of glycogen metabolism +MONDO:0009868 glycogen storage disease IXb MONDO:0002412 OMIM:261750 OMIMPS:232200 disorder of glycogen metabolism MONDO:0009876 isolated growth hormone deficiency type IA MONDO:0000050 OMIM:262400 OMIMPS:262400 isolated congenital growth hormone deficiency MONDO:0009880 short stature-pituitary and cerebellar defects-small sella turcica syndrome MONDO:0013099 OMIM:262700 OMIMPS:613038 combined pituitary hormone deficiencies, genetic form MONDO:0009885 Scott syndrome MONDO:0000009 OMIM:262890 OMIMPS:231200 inherited bleeding disorder, platelet-type @@ -415,6 +444,7 @@ MONDO:0009960 inflammatory bowel disease 1 MONDO:0005265 OMIM:266600 OMIMPS:2666 MONDO:0009962 Senior-Loken syndrome 1 MONDO:0017842 OMIM:266900 OMIMPS:266900 Senior-Loken syndrome MONDO:0009964 short-rib thoracic dysplasia 9 with or without polydactyly MONDO:0018770 OMIM:266920 OMIMPS:208500 Jeune syndrome MONDO:0009966 NPHP3-related Meckel-like syndrome MONDO:0018921 OMIM:267010 OMIMPS:249000 Meckel syndrome +MONDO:0009973 reticular dysgenesis MONDO:0031520 OMIM:267500 OMIMPS:601457 familial severe combined immunodeficiency MONDO:0009974 familial hemophagocytic lymphohistiocytosis type 1 MONDO:0015541 OMIM:267700 OMIMPS:267700 hereditary hemophagocytic lymphohistiocytosis MONDO:0009990 Revesz syndrome MONDO:0015780 OMIM:268130 OMIMPS:127550 dyskeratosis congenita MONDO:0009999 autosomal recessive Robinow syndrome MONDO:0019978 OMIM:268310 OMIMPS:268310 Robinow syndrome @@ -474,16 +504,14 @@ MONDO:0010289 intellectual disability, X-linked 72 MONDO:0019181 OMIM:300271 OMI MONDO:0010290 goiter, multinodular 2 MONDO:0000334 OMIM:300273 OMIMPS:138800 multinodular goiter MONDO:0010294 X-linked severe congenital neutropenia MONDO:0018542 OMIM:300299 OMIMPS:202700 severe congenital neutropenia MONDO:0010296 immunodeficiency 61 MONDO:0015977 OMIM:300310 OMIMPS:601495 agammaglobulinemia -MONDO:0010297 FG syndrome 2 MONDO:0002010 OMIM:300321 OMIMPS:305400 FG syndrome MONDO:0010300 intellectual disability, X-linked 53 MONDO:0019181 OMIM:300324 OMIMPS:309530 non-syndromic X-linked intellectual disability MONDO:0010305 creatine transporter deficiency MONDO:0000456 OMIM:300352 OMIMPS:300352 cerebral creatine deficiency syndrome MONDO:0010306 X-linked intellectual disability, Cabezas type MONDO:0020119 OMIM:300354 OMIMPS:309510 X-linked syndromic intellectual disability MONDO:0010307 intellectual disability, X-linked 73 MONDO:0019181 OMIM:300355 OMIMPS:309530 non-syndromic X-linked intellectual disability MONDO:0010309 intellectual disability, X-linked 42 MONDO:0019181 OMIM:300372 OMIMPS:309530 non-syndromic X-linked intellectual disability MONDO:0010313 intellectual disability, X-linked 63 MONDO:0019181 OMIM:300387 OMIMPS:309530 non-syndromic X-linked intellectual disability -MONDO:0010316 FG syndrome 3 MONDO:0002010 OMIM:300406 OMIMPS:305400 FG syndrome +MONDO:0010315 T-B+ severe combined immunodeficiency due to gamma chain deficiency MONDO:0031520 OMIM:300400 OMIMPS:601457 familial severe combined immunodeficiency MONDO:0010317 intellectual disability, X-linked, with or without seizures, arx-related MONDO:0019181 OMIM:300419 OMIMPS:309530 non-syndromic X-linked intellectual disability -MONDO:0010318 FG syndrome 4 MONDO:0002010 OMIM:300422 OMIMPS:305400 FG syndrome MONDO:0010320 retinitis pigmentosa 23 MONDO:0019200 OMIM:300424 OMIMPS:268000 retinitis pigmentosa MONDO:0010321 autism, susceptibility to, X-linked 1 MONDO:0020836 OMIM:300425 OMIMPS:209850 autism, susceptiblity to MONDO:0010322 intellectual disability, X-linked 2 MONDO:0019181 OMIM:300428 OMIMPS:309530 non-syndromic X-linked intellectual disability @@ -494,6 +522,7 @@ MONDO:0010329 intellectual disability, X-linked 77 MONDO:0019181 OMIM:300454 OMI MONDO:0010333 corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome MONDO:0020119 OMIM:300472 OMIMPS:309510 X-linked syndromic intellectual disability MONDO:0010336 orofaciodigital syndrome VIII MONDO:0015375 OMIM:300484 OMIMPS:311200 orofaciodigital syndrome MONDO:0010337 X-linked intellectual disability-cerebellar hypoplasia syndrome MONDO:0020119 OMIM:300486 OMIMPS:309510 X-linked syndromic intellectual disability +MONDO:0010339 epilepsy, X-linked 1, with variable learning disabilities and behavior disorders MONDO:0859390 OMIM:300491 OMIMPS:300491 epilepsy, X-linked, with or without impaired intellectual development and dysmorphic features MONDO:0010341 autism, susceptibility to, X-linked 2 MONDO:0020836 OMIM:300495 OMIMPS:209850 autism, susceptiblity to MONDO:0010342 autism, susceptibility to, X-linked 3 MONDO:0020836 OMIM:300496 OMIMPS:209850 autism, susceptiblity to MONDO:0010344 intellectual disability, X-linked 45 MONDO:0019181 OMIM:300498 OMIMPS:309530 non-syndromic X-linked intellectual disability @@ -505,8 +534,8 @@ MONDO:0010352 intellectual disability, X-linked 82 MONDO:0019181 OMIM:300518 OMI MONDO:0010355 syndromic X-linked intellectual disability Claes-Jensen type MONDO:0020119 OMIM:300534 OMIMPS:309510 X-linked syndromic intellectual disability MONDO:0010359 Dent disease type 2 MONDO:0015612 OMIM:300555 OMIMPS:300009 Dent disease MONDO:0010361 intellectual disability, X-linked 30 MONDO:0019181 OMIM:300558 OMIMPS:309530 non-syndromic X-linked intellectual disability +MONDO:0010362 glycogen storage disease IXd MONDO:0002412 OMIM:300559 OMIMPS:232200 disorder of glycogen metabolism MONDO:0010363 intellectual disability, X-linked 91 MONDO:0019181 OMIM:300577 OMIMPS:309530 non-syndromic X-linked intellectual disability -MONDO:0010366 FG syndrome 5 MONDO:0002010 OMIM:300581 OMIMPS:305400 FG syndrome MONDO:0010369 nystagmus 5, congenital, X-linked MONDO:0005712 OMIM:300589 OMIMPS:310700 congenital nystagmus MONDO:0010370 Cornelia de Lange syndrome 2 MONDO:0016033 OMIM:300590 OMIMPS:122470 Cornelia de Lange syndrome MONDO:0010373 premature ovarian failure 2B MONDO:0019852 OMIM:300604 OMIMPS:311360 inherited primary ovarian failure @@ -592,8 +621,8 @@ MONDO:0010542 dilated cardiomyopathy 3B MONDO:0016333 OMIM:302045 OMIMPS:115200 MONDO:0010543 Barth syndrome MONDO:0017359 OMIM:302060 OMIMPS:250950 3-methylglutaconic aciduria MONDO:0010574 syndromic X-linked intellectual disability 5 MONDO:0020119 OMIM:304340 OMIMPS:309510 X-linked syndromic intellectual disability MONDO:0010588 exudative vitreoretinopathy 2, X-linked MONDO:0019516 OMIM:305390 OMIMPS:133780 exudative vitreoretinopathy -MONDO:0010589 Aarskog-Scott syndrome, X-linked MONDO:0002010 OMIM:305400 OMIMPS:305400 FG syndrome MONDO:0010600 granulomatous disease, chronic, X-linked MONDO:0018305 OMIM:306400 OMIMPS:306400 chronic granulomatous disease +MONDO:0010606 hernia, anterior diaphragmatic MONDO:0005711 OMIM:306950 OMIMPS:142340 congenital diaphragmatic hernia MONDO:0010607 heterotaxy, visceral, 1, X-linked MONDO:0018677 OMIM:306955 OMIMPS:306955 visceral heterotaxy MONDO:0010611 X-linked hydrocephalus with stenosis of the aqueduct of Sylvius MONDO:0016349 OMIM:307000 OMIMPS:236600 congenital hydrocephalus MONDO:0010615 isolated growth hormone deficiency type III MONDO:0000050 OMIM:307200 OMIMPS:262400 isolated congenital growth hormone deficiency @@ -606,6 +635,7 @@ MONDO:0010656 intellectual disability, X-linked 1 MONDO:0019181 OMIM:309530 OMIM MONDO:0010657 methylmalonic acidemia with homocystinuria, type cblX MONDO:0016826 OMIM:309541 OMIMPS:277400 methylmalonic aciduria and homocystinuria MONDO:0010657 methylmalonic acidemia with homocystinuria, type cblX MONDO:0019181 OMIM:309541 OMIMPS:309530 non-syndromic X-linked intellectual disability MONDO:0010658 syndromic X-linked intellectual disability 12 MONDO:0020119 OMIM:309545 OMIMPS:309510 X-linked syndromic intellectual disability +MONDO:0010659 FRAXE intellectual disability MONDO:0019181 OMIM:309548 OMIMPS:309530 non-syndromic X-linked intellectual disability MONDO:0010660 intellectual disability, X-linked 9 MONDO:0019181 OMIM:309549 OMIMPS:309530 non-syndromic X-linked intellectual disability MONDO:0010664 syndromic X-linked intellectual disability Snyder type MONDO:0020119 OMIM:309583 OMIMPS:309510 X-linked syndromic intellectual disability MONDO:0010665 Wilson-Turner syndrome MONDO:0020119 OMIM:309585 OMIMPS:309510 X-linked syndromic intellectual disability @@ -639,6 +669,8 @@ MONDO:0010827 retinitis pigmentosa 14 MONDO:0019200 OMIM:600132 OMIMPS:268000 re MONDO:0010828 retinitis pigmentosa 11 MONDO:0019200 OMIM:600138 OMIMPS:268000 retinitis pigmentosa MONDO:0010832 Bardet-Biedl syndrome 3 MONDO:0015229 OMIM:600151 OMIMPS:209900 Bardet-Biedl syndrome MONDO:0010836 nanophthalmos 1 MONDO:0005514 OMIM:600165 OMIMPS:600165 nanophthalmia +MONDO:0010839 neuronopathy, distal hereditary motor, autosomal dominant 8 MONDO:0015362 OMIM:600175 OMIMPS:182960 neuronopathy, distal hereditary motor, autosomal dominant +MONDO:0010846 exostoses, multiple, type III MONDO:0005508 OMIM:600209 OMIMPS:133700 hereditary multiple osteochondromas MONDO:0010860 autosomal recessive nonsyndromic hearing loss 3 MONDO:0019588 OMIM:600316 OMIMPS:220290 hearing loss, autosomal recessive MONDO:0010878 hereditary spastic paraplegia 6 MONDO:0019064 OMIM:600363 OMIMPS:303350 hereditary spastic paraplegia MONDO:0010880 telangiectasia, hereditary hemorrhagic, type 2 MONDO:0019180 OMIM:600376 OMIMPS:187300 hereditary hemorrhagic telangiectasia @@ -651,6 +683,7 @@ MONDO:0010915 autosomal dominant nonsyndromic hearing loss 4A MONDO:0019587 OMIM MONDO:0010926 familial hypocalciuric hypercalcemia 3 MONDO:0018458 OMIM:600740 OMIMPS:145980 familial hypocalciuric hypercalcemia MONDO:0010933 autosomal recessive nonsyndromic hearing loss 4 MONDO:0019588 OMIM:600791 OMIMPS:220290 hearing loss, autosomal recessive MONDO:0010936 frontotemporal dementia and/or amyotrophic lateral sclerosis 7 MONDO:0005144 OMIM:600795 OMIMPS:105400 familial amyotrophic lateral sclerosis +MONDO:0010938 T-B+ severe combined immunodeficiency due to JAK3 deficiency MONDO:0031520 OMIM:600802 OMIMPS:601457 familial severe combined immunodeficiency MONDO:0010939 low phospholipid associated cholelithiasis MONDO:0700225 OMIM:600803 OMIMPS:600803 hereditary gallbladder disorder MONDO:0010945 retinitis pigmentosa 17 MONDO:0019200 OMIM:600852 OMIMPS:268000 retinitis pigmentosa MONDO:0010946 hypertrophic cardiomyopathy 6 MONDO:0024573 OMIM:600858 OMIMPS:192600 familial hypertrophic cardiomyopathy @@ -688,6 +721,7 @@ MONDO:0011070 van Maldergem syndrome 1 MONDO:0017813 OMIM:601390 OMIMPS:601390 v MONDO:0011074 autosomal dominant nonsyndromic hearing loss 7 MONDO:0019587 OMIM:601412 OMIMPS:124900 autosomal dominant nonsyndromic hearing loss MONDO:0011075 retinitis pigmentosa 18 MONDO:0019200 OMIM:601414 OMIMPS:268000 retinitis pigmentosa MONDO:0011076 myofibrillar myopathy 1 MONDO:0018943 OMIM:601419 OMIMPS:601419 myofibrillar myopathy +MONDO:0011086 severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive MONDO:0031520 OMIM:601457 OMIMPS:601457 familial severe combined immunodeficiency MONDO:0011087 inflammatory bowel disease 2 MONDO:0005265 OMIM:601458 OMIMPS:266600 inflammatory bowel disease MONDO:0011093 mucopolysaccharidosis type 9 MONDO:0019249 OMIM:601492 OMIMPS:607014 mucopolysaccharidosis MONDO:0011094 dilated cardiomyopathy 1C MONDO:0018901 OMIM:601493 OMIMPS:604169 left ventricular noncompaction @@ -724,6 +758,7 @@ MONDO:0011214 progressive familial intrahepatic cholestasis type 3 MONDO:0015762 MONDO:0011218 autosomal recessive congenital ichthyosis 11 MONDO:0017265 OMIM:602400 OMIMPS:242300 autosomal recessive congenital ichthyosis MONDO:0011219 Fried's tooth and nail syndrome MONDO:0019287 OMIM:602401 OMIMPS:305100 ectodermal dysplasia syndrome MONDO:0011223 amyotrophic lateral sclerosis type 4 MONDO:0005144 OMIM:602433 OMIMPS:105400 familial amyotrophic lateral sclerosis +MONDO:0011225 severe combined immunodeficiency due to DCLRE1C deficiency MONDO:0031520 OMIM:602450 OMIMPS:601457 familial severe combined immunodeficiency MONDO:0011226 autosomal dominant nonsyndromic hearing loss 15 MONDO:0019587 OMIM:602459 OMIMPS:124900 autosomal dominant nonsyndromic hearing loss MONDO:0011232 migraine, familial hemiplegic, 2 MONDO:0000700 OMIM:602481 OMIMPS:141500 familial hemiplegic migraine MONDO:0011233 Axenfeld-Rieger syndrome type 3 MONDO:0019187 OMIM:602482 OMIMPS:180500 Axenfeld-Rieger syndrome @@ -754,6 +789,7 @@ MONDO:0011325 Fanconi anemia complementation group F MONDO:0019391 OMIM:603467 O MONDO:0011335 spondyloepimetaphyseal dysplasia with multiple dislocations MONDO:0019675 OMIM:603546 OMIMPS:271640 spondyloepimetaphyseal dysplasia with joint laxity MONDO:0011336 familial hemophagocytic lymphohistiocytosis 4 MONDO:0015541 OMIM:603552 OMIMPS:267700 hereditary hemophagocytic lymphohistiocytosis MONDO:0011337 familial hemophagocytic lymphohistiocytosis 2 MONDO:0015541 OMIM:603553 OMIMPS:267700 hereditary hemophagocytic lymphohistiocytosis +MONDO:0011338 Omenn syndrome MONDO:0031520 OMIM:603554 OMIMPS:601457 familial severe combined immunodeficiency MONDO:0011342 SLC35A1-congenital disorder of glycosylation MONDO:0005501 OMIM:603585 OMIMPS:212066 congenital disorder of glycosylation type II MONDO:0011346 xanthinuria type II MONDO:0018106 OMIM:603592 OMIMPS:278300 hereditary xanthinuria MONDO:0011350 autosomal dominant nonsyndromic hearing loss 17 MONDO:0019587 OMIM:603622 OMIMPS:124900 autosomal dominant nonsyndromic hearing loss @@ -780,6 +816,7 @@ MONDO:0011421 mitochondrial complex V (ATP synthase) deficiency, nuclear type 1 MONDO:0011423 autosomal recessive limb-girdle muscular dystrophy type 2E MONDO:0015152 OMIM:604286 OMIMPS:253600 autosomal recessive limb-girdle muscular dystrophy MONDO:0011425 dilated cardiomyopathy 1H MONDO:0016333 OMIM:604288 OMIMPS:115200 familial dilated cardiomyopathy MONDO:0011435 microcephaly 2, primary, autosomal recessive, with or without cortical malformations MONDO:0016660 OMIM:604317 OMIMPS:251200 autosomal recessive primary microcephaly +MONDO:0011436 autosomal recessive distal spinal muscular atrophy 1 MONDO:0015363 OMIM:604320 OMIMPS:604320 neuronopathy, distal hereditary motor, autosomal recessive MONDO:0011437 microcephaly 4, primary, autosomal recessive MONDO:0016660 OMIM:604321 OMIMPS:251200 autosomal recessive primary microcephaly MONDO:0011442 advanced sleep phase syndrome 1 MONDO:0015609 OMIM:604348 OMIMPS:604348 advanced sleep phase syndrome MONDO:0011443 febrile seizures, familial, 4 MONDO:0000032 OMIM:604352 OMIMPS:121210 febrile seizures, familial @@ -829,8 +866,10 @@ MONDO:0011566 abdominal obesity-metabolic syndrome quantitative trait locus 2 MO MONDO:0011567 dilated cardiomyopathy 1K MONDO:0016333 OMIM:605582 OMIMPS:115200 familial dilated cardiomyopathy MONDO:0011568 autosomal dominant nonsyndromic hearing loss 25 MONDO:0019587 OMIM:605583 OMIMPS:124900 autosomal dominant nonsyndromic hearing loss MONDO:0011576 familial hyperaldosteronism type II MONDO:0016525 OMIM:605635 OMIMPS:103900 familial hyperaldosteronism +MONDO:0011577 myopathy, proximal, and ophthalmoplegia MONDO:0019952 OMIM:605637 OMIMPS:117000 congenital myopathy MONDO:0011582 multiple mitochondrial dysfunctions syndrome 1 MONDO:0017338 OMIM:605711 OMIMPS:605711 fatal multiple mitochondrial dysfunctions syndrome MONDO:0011584 Fanconi anemia complementation group D1 MONDO:0019391 OMIM:605724 OMIMPS:227650 Fanconi anemia +MONDO:0011585 autosomal recessive distal spinal muscular atrophy 2 MONDO:0015363 OMIM:605726 OMIMPS:604320 neuronopathy, distal hereditary motor, autosomal recessive MONDO:0011586 otosclerosis 2 MONDO:0005349 OMIM:605727 OMIMPS:166800 otosclerosis MONDO:0011588 platelet-type bleeding disorder 12 MONDO:0000009 OMIM:605735 OMIMPS:231200 inherited bleeding disorder, platelet-type MONDO:0011589 microphthalmia with coloboma 2 MONDO:0000170 OMIM:605738 OMIMPS:300345 microphthalmia, isolated, with coloboma @@ -883,6 +922,7 @@ MONDO:0011762 autosomal recessive nonsyndromic hearing loss 22 MONDO:0019588 OMI MONDO:0011765 multiple epiphyseal dysplasia type 5 MONDO:0016648 OMIM:607078 OMIMPS:132400 multiple epiphyseal dysplasia MONDO:0011767 autosomal recessive nonsyndromic hearing loss 31 MONDO:0019588 OMIM:607084 OMIMPS:220290 hearing loss, autosomal recessive MONDO:0011770 aortic aneurysm, familial thoracic 2 MONDO:0019625 OMIM:607087 OMIMPS:607086 familial thoracic aortic aneurysm and aortic dissection +MONDO:0011771 neuronopathy, distal hereditary motor, autosomal recessive 3 MONDO:0015363 OMIM:607088 OMIMPS:604320 neuronopathy, distal hereditary motor, autosomal recessive MONDO:0011772 B4GALT1-congenital disorder of glycosylation MONDO:0005501 OMIM:607091 OMIMPS:212066 congenital disorder of glycosylation type II MONDO:0011774 autosomal recessive nonsyndromic hearing loss 30 MONDO:0019588 OMIM:607101 OMIMPS:220290 hearing loss, autosomal recessive MONDO:0011780 specific language impairment 3 MONDO:0000724 OMIM:607134 OMIMPS:606711 specific language impairment @@ -929,6 +969,7 @@ MONDO:0011906 congenital bile acid synthesis defect 1 MONDO:0018841 OMIM:607765 MONDO:0011912 autosomal recessive nonsyndromic hearing loss 37 MONDO:0019588 OMIM:607821 OMIMPS:220290 hearing loss, autosomal recessive MONDO:0011915 mitral valve prolapse, myxomatous 2 MONDO:0008004 OMIM:607829 OMIMPS:157700 familial mitral valve prolapse MONDO:0011920 autosomal dominant nonsyndromic hearing loss 48 MONDO:0019587 OMIM:607841 OMIMPS:124900 autosomal dominant nonsyndromic hearing loss +MONDO:0011924 panic disorder 2 MONDO:0031240 OMIM:607853 OMIMPS:167870 familial panic disorder MONDO:0011930 epilepsy, familial adult myoclonic, 2 MONDO:0000160 OMIM:607876 OMIMPS:601068 epilepsy, familial adult myoclonic MONDO:0011932 hypotrichosis 6 MONDO:0003037 OMIM:607903 OMIMPS:605389 hypotrichosis MONDO:0011933 ALG2-congenital disorder of glycosylation MONDO:0005500 OMIM:607906 OMIMPS:212065 congenital disorder of glycosylation type I @@ -944,6 +985,7 @@ MONDO:0011952 amyotrophic lateral sclerosis type 7 MONDO:0005144 OMIM:608031 OMI MONDO:0011953 familial acute necrotizing encephalopathy MONDO:0000166 OMIM:608033 OMIMPS:610551 encephalopathy, acute, infection-induced MONDO:0011954 melanoma, cutaneous malignant, susceptibility to, 4 MONDO:0024462 OMIM:608035 OMIMPS:155600 susceptibility to familial cutaneous melanoma MONDO:0011956 autism, susceptibility to, 3 MONDO:0020836 OMIM:608049 OMIMPS:209850 autism, susceptiblity to +MONDO:0011957 retinal macular dystrophy type 2 MONDO:0031166 OMIM:608051 OMIMPS:136550 macular dystrophy, retinal MONDO:0011963 Joubert syndrome 2 MONDO:0018772 OMIM:608091 OMIMPS:213300 Joubert syndrome MONDO:0011964 DPAGT1-congenital disorder of glycosylation MONDO:0005500 OMIM:608093 OMIMPS:212065 congenital disorder of glycosylation type I MONDO:0011965 familial temporal lobe epilepsy 2 MONDO:0005115 OMIM:608096 OMIMPS:600512 temporal lobe epilepsy @@ -1011,11 +1053,13 @@ MONDO:0012123 congenital disorder of glycosylation type 1E MONDO:0005500 OMIM:60 MONDO:0012127 autosomal recessive limb-girdle muscular dystrophy type 2J MONDO:0015152 OMIM:608807 OMIMPS:253600 autosomal recessive limb-girdle muscular dystrophy MONDO:0012135 restless legs syndrome, susceptibility to, 2 MONDO:0100170 OMIM:608831 OMIMPS:102300 restless legs syndrome, susceptibility to MONDO:0012138 muscular dystrophy-dystroglycanopathy type B6 MONDO:0000172 OMIM:608840 OMIMPS:613155 muscular dystrophy-dystroglycanopathy, type B +MONDO:0012139 macular dystrophy, retinal, 3 MONDO:0031166 OMIM:608850 OMIMPS:136550 macular dystrophy, retinal MONDO:0012145 macular degeneration, age-related, 3 MONDO:0005150 OMIM:608895 OMIMPS:603075 age-related macular degeneration MONDO:0012146 familial hemophagocytic lymphohistiocytosis 3 MONDO:0015541 OMIM:608898 OMIMPS:267700 hereditary hemophagocytic lymphohistiocytosis MONDO:0012154 myopia 6 MONDO:0001384 OMIM:608908 OMIMPS:160700 myopia MONDO:0012158 keratoconus 2 MONDO:0015486 OMIM:608932 OMIMPS:148300 keratoconus MONDO:0012162 patterned macular dystrophy 2 MONDO:0020381 OMIM:608970 OMIMPS:169150 patterned macular dystrophy +MONDO:0012163 immunodeficiency 104 MONDO:0031520 OMIM:608971 OMIMPS:601457 familial severe combined immunodeficiency MONDO:0012167 atrial fibrillation, familial, 2 MONDO:0018054 OMIM:608988 OMIMPS:608583 familial atrial fibrillation MONDO:0012169 premature ovarian failure 3 MONDO:0019852 OMIM:608996 OMIMPS:311360 inherited primary ovarian failure MONDO:0012170 autosomal recessive nonsyndromic hearing loss 36 MONDO:0019588 OMIM:609006 OMIMPS:220290 hearing loss, autosomal recessive @@ -1108,6 +1152,7 @@ MONDO:0012377 asperger syndrome, susceptibility to, 4 MONDO:0100440 OMIM:609954 MONDO:0012378 fibromatosis, gingival, 3 MONDO:0016070 OMIM:609955 OMIMPS:135300 hereditary gingival fibromatosis MONDO:0012380 autosomal dominant nonsyndromic hearing loss 53 MONDO:0019587 OMIM:609965 OMIMPS:124900 autosomal dominant nonsyndromic hearing loss MONDO:0012383 primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency MONDO:0021094 OMIM:609981 OMIMPS:300755 immunodeficiency disease +MONDO:0012384 panic disorder 3 MONDO:0031240 OMIM:609985 OMIMPS:167870 familial panic disorder MONDO:0012388 myopia 11, autosomal dominant MONDO:0001384 OMIM:609994 OMIMPS:160700 myopia MONDO:0012389 myopia 12, autosomal dominant MONDO:0001384 OMIM:609995 OMIMPS:160700 myopia MONDO:0012394 multiple synostoses syndrome 2 MONDO:0017923 OMIM:610017 OMIMPS:186500 multiple synostoses syndrome @@ -1126,6 +1171,7 @@ MONDO:0012425 corneal dystrophy, fuchs endothelial, 2 MONDO:0005321 OMIM:610158 MONDO:0012427 Loeys-Dietz syndrome 2 MONDO:0018954 OMIM:610168 OMIMPS:609192 Loeys-Dietz syndrome MONDO:0012429 Aicardi-Goutieres syndrome 2 MONDO:0018866 OMIM:610181 OMIMPS:225750 Aicardi-Goutieres syndrome MONDO:0012430 cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 2 MONDO:0009133 OMIM:610185 OMIMPS:224050 cerebellar ataxia, intellectual disability, and dysequilibrium +MONDO:0012431 diaphragmatic hernia 3 MONDO:0005711 OMIM:610187 OMIMPS:142340 congenital diaphragmatic hernia MONDO:0012432 Joubert syndrome 5 MONDO:0018772 OMIM:610188 OMIMPS:213300 Joubert syndrome MONDO:0012433 Senior-Loken syndrome 6 MONDO:0017842 OMIM:610189 OMIMPS:266900 Senior-Loken syndrome MONDO:0012434 arrhythmogenic right ventricular dysplasia 10 MONDO:0016342 OMIM:610193 OMIMPS:107970 familial isolated arrhythmogenic right ventricular dysplasia @@ -1207,6 +1253,7 @@ MONDO:0012602 autosomal recessive nonsyndromic hearing loss 24 MONDO:0019588 OMI MONDO:0012603 episodic kinesigenic dyskinesia 2 MONDO:0044202 OMIM:611031 OMIMPS:128200 episodic kinesigenic dyskinesia MONDO:0012604 isolated microphthalmia 3 MONDO:0000062 OMIM:611038 OMIMPS:251600 isolated microphthalmia MONDO:0012605 isolated microphthalmia 5 MONDO:0000062 OMIM:611040 OMIMPS:251600 isolated microphthalmia +MONDO:0012608 neuronopathy, distal hereditary motor, autosomal recessive 4 MONDO:0015363 OMIM:611067 OMIMPS:604320 neuronopathy, distal hereditary motor, autosomal recessive MONDO:0012610 inflammatory bowel disease 10 MONDO:0005265 OMIM:611081 OMIMPS:266600 inflammatory bowel disease MONDO:0012612 intellectual disability, autosomal recessive 12 MONDO:0019502 OMIM:611090 OMIMPS:249500 autosomal recessive non-syndromic intellectual disability MONDO:0012613 intellectual disability, autosomal recessive 5 MONDO:0019502 OMIM:611091 OMIMPS:249500 autosomal recessive non-syndromic intellectual disability @@ -1224,6 +1271,7 @@ MONDO:0012637 COG1-congenital disorder of glycosylation MONDO:0005501 OMIM:61120 MONDO:0012638 microphthalmia-brain atrophy syndrome MONDO:0016073 OMIM:611222 OMIMPS:309800 syndromic microphthalmia MONDO:0012641 restless legs syndrome, susceptibility to, 5 MONDO:0100170 OMIM:611242 OMIMPS:102300 restless legs syndrome, susceptibility to MONDO:0012644 asphyxiating thoracic dystrophy 2 MONDO:0018770 OMIM:611263 OMIMPS:208500 Jeune syndrome +MONDO:0012650 Cernunnos-XLF deficiency MONDO:0031520 OMIM:611291 OMIMPS:601457 familial severe combined immunodeficiency MONDO:0012651 spastic ataxia 2 MONDO:0017845 OMIM:611302 OMIMPS:108600 spastic ataxia MONDO:0012652 autosomal recessive limb-girdle muscular dystrophy type 2L MONDO:0015152 OMIM:611307 OMIMPS:253600 autosomal recessive limb-girdle muscular dystrophy MONDO:0012653 persistent hyperplastic primary vitreous, autosomal dominant MONDO:0019631 OMIM:611308 OMIMPS:221900 persistent hyperplastic primary vitreous @@ -1246,6 +1294,7 @@ MONDO:0012684 arrhythmogenic right ventricular dysplasia 12 MONDO:0016342 OMIM:6 MONDO:0012689 premature ovarian failure 5 MONDO:0019852 OMIM:611548 OMIMPS:311360 inherited primary ovarian failure MONDO:0012690 Noonan syndrome 5 MONDO:0018997 OMIM:611553 OMIMPS:163950 Noonan syndrome MONDO:0012691 LEOPARD syndrome 2 MONDO:0007893 OMIM:611554 OMIMPS:151100 Noonan syndrome with multiple lentigines +MONDO:0012693 glycogen storage disease due to muscle and heart glycogen synthase deficiency MONDO:0002412 OMIM:611556 OMIMPS:232200 disorder of glycogen metabolism MONDO:0012694 Joubert syndrome 7 MONDO:0018772 OMIM:611560 OMIMPS:213300 Joubert syndrome MONDO:0012695 Meckel syndrome, type 5 MONDO:0018921 OMIM:611561 OMIMPS:249000 Meckel syndrome MONDO:0012696 otosclerosis 4 MONDO:0005349 OMIM:611571 OMIMPS:166800 otosclerosis @@ -1347,6 +1396,7 @@ MONDO:0012923 congenital generalized lipodystrophy type 3 MONDO:0006536 OMIM:612 MONDO:0012924 Diamond-Blackfan anemia 4 MONDO:0015253 OMIM:612527 OMIMPS:105650 Diamond-Blackfan anemia MONDO:0012925 Diamond-Blackfan anemia 5 MONDO:0015253 OMIM:612528 OMIMPS:105650 Diamond-Blackfan anemia MONDO:0012927 chromosome 1q41-q42 deletion syndrome MONDO:0016296 OMIM:612530 OMIMPS:236100 holoprosencephaly +MONDO:0012929 Compton-North congenital myopathy MONDO:0019952 OMIM:612540 OMIMPS:117000 congenital myopathy MONDO:0012932 myopia 16, autosomal dominant MONDO:0001384 OMIM:612554 OMIMPS:160700 myopia MONDO:0012933 breast-ovarian cancer, familial, susceptibility to, 2 MONDO:0100526 OMIM:612555 OMIMPS:604370 breast-ovarian cancer, familial, susceptibility to MONDO:0012937 Diamond-Blackfan anemia 6 MONDO:0015253 OMIM:612561 OMIMPS:105650 Diamond-Blackfan anemia @@ -1400,6 +1450,8 @@ MONDO:0013031 chromosome 5Q14.3 deletion syndrome, distal MONDO:0020341 OMIM:612 MONDO:0013033 cerebral palsy, spastic quadriplegic, 2 MONDO:0016215 OMIM:612900 OMIMPS:612900 spastic quadriplegic cerebral palsy MONDO:0013035 orofaciodigital syndrome XI MONDO:0015375 OMIM:612913 OMIMPS:311200 orofaciodigital syndrome MONDO:0013039 3M syndrome 2 MONDO:0007477 OMIM:612921 OMIMPS:273750 3-M syndrome +MONDO:0013046 glycogen storage disease due to muscle beta-enolase deficiency MONDO:0002412 OMIM:612932 OMIMPS:232200 disorder of glycogen metabolism +MONDO:0013047 glycogen storage disease due to lactate dehydrogenase M-subunit deficiency MONDO:0002412 OMIM:612933 OMIMPS:232200 disorder of glycogen metabolism MONDO:0013048 hereditary spastic paraplegia 50 MONDO:0019064 OMIM:612936 OMIMPS:303350 hereditary spastic paraplegia MONDO:0013049 DPM3-congenital disorder of glycosylation MONDO:0005500 OMIM:612937 OMIMPS:212065 congenital disorder of glycosylation type I MONDO:0013052 retinitis pigmentosa 42 MONDO:0019200 OMIM:612943 OMIMPS:268000 retinitis pigmentosa @@ -1745,6 +1797,7 @@ MONDO:0013719 cranioectodermal dysplasia 4 MONDO:0009032 OMIM:614378 OMIMPS:2183 MONDO:0013722 hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism MONDO:0019046 OMIM:614381 OMIMPS:312080 leukodystrophy MONDO:0013725 colorectal cancer, hereditary nonpolyposis, type 7 MONDO:0018630 OMIM:614385 OMIMPS:120435 hereditary nonpolyposis colon cancer MONDO:0013726 encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1 MONDO:0054865 OMIM:614388 OMIMPS:614388 encephalopathy due to mitochondrial and peroxisomal fission defect +MONDO:0013731 MEGF10-related myopathy MONDO:0019952 OMIM:614399 OMIMPS:117000 congenital myopathy MONDO:0013734 microphthalmia, syndromic 11 MONDO:0016073 OMIM:614402 OMIMPS:309800 syndromic microphthalmia MONDO:0013738 autosomal recessive nonsyndromic hearing loss 96 MONDO:0019588 OMIM:614414 OMIMPS:220290 hearing loss, autosomal recessive MONDO:0013739 chilblain lupus 2 MONDO:0018827 OMIM:614415 OMIMPS:610448 familial chilblain lupus @@ -1785,11 +1838,11 @@ MONDO:0013790 mirror movements 2 MONDO:0016558 OMIM:614508 OMIMPS:157600 familia MONDO:0013794 thrombocythemia 3 MONDO:0019111 OMIM:614521 OMIMPS:187950 familial thrombocytosis MONDO:0013795 fibrochondrogenesis 2 MONDO:0016068 OMIM:614524 OMIMPS:228520 fibrochondrogenesis MONDO:0013800 Ehlers-Danlos syndrome, kyphoscoliotic and deafness type MONDO:0020066 OMIM:614557 OMIMPS:130000 Ehlers-Danlos syndrome -MONDO:0013805 intellectual disability, autosomal dominant 13 MONDO:0100172 OMIM:614563 OMIMPS:156200 intellectual disability, autosomal dominant MONDO:0013807 congenital stationary night blindness 1E MONDO:0016293 OMIM:614565 OMIMPS:310500 congenital stationary night blindness MONDO:0013810 COG6-ongenital disorder of glycosylation MONDO:0005501 OMIM:614576 OMIMPS:212066 congenital disorder of glycosylation type II MONDO:0013811 combined oxidative phosphorylation defect type 9 MONDO:0000732 OMIM:614582 OMIMPS:609060 combined oxidative phosphorylation deficiency MONDO:0013812 Baraitser-winter syndrome 2 MONDO:0017579 OMIM:614583 OMIMPS:243310 Baraitser-Winter cerebrofrontofacial syndrome +MONDO:0013815 bent bone dysplasia syndrome 1 MONDO:0031615 OMIM:614592 OMIMPS:614592 familial bent bone dysplasia syndrome MONDO:0013817 preeclampsia/eclampsia 5 MONDO:0005081 OMIM:614595 OMIMPS:189800 preeclampsia MONDO:0013818 trichohepatoenteric syndrome 2 MONDO:0009105 OMIM:614602 OMIMPS:222470 trichohepatoenteric syndrome MONDO:0013819 intellectual disability, autosomal dominant 14 MONDO:0015452 OMIM:614607 OMIMPS:135900 Coffin-Siris syndrome @@ -1862,6 +1915,7 @@ MONDO:0013924 osteogenesis imperfecta type 13 MONDO:0019019 OMIM:614856 OMIMPS:1 MONDO:0013925 methylmalonic acidemia with homocystinuria, type cblJ MONDO:0016826 OMIM:614857 OMIMPS:277400 methylmalonic aciduria and homocystinuria MONDO:0013929 autosomal recessive nonsyndromic hearing loss 98 MONDO:0019588 OMIM:614861 OMIMPS:220290 hearing loss, autosomal recessive MONDO:0013940 primary ciliary dyskinesia 18 MONDO:0016575 OMIM:614874 OMIMPS:244400 primary ciliary dyskinesia +MONDO:0013947 neuronopathy, distal hereditary motor, autosomal recessive 5 MONDO:0015363 OMIM:614881 OMIMPS:604320 neuronopathy, distal hereditary motor, autosomal recessive MONDO:0013963 autosomal recessive nonsyndromic hearing loss 93 MONDO:0019588 OMIM:614899 OMIMPS:220290 hearing loss, autosomal recessive MONDO:0013964 Diamond-Blackfan anemia 11 MONDO:0015253 OMIM:614900 OMIMPS:105650 Diamond-Blackfan anemia MONDO:0013965 lethal congenital contracture syndrome 4 MONDO:0017436 OMIM:614915 OMIMPS:253310 lethal congenital contracture syndrome @@ -2044,6 +2098,8 @@ MONDO:0014270 STT3A-congenital disorder of glycosylation MONDO:0005500 OMIM:6155 MONDO:0014271 STT3B-congenital disorder of glycosylation MONDO:0005500 OMIM:615597 OMIMPS:212065 congenital disorder of glycosylation type I MONDO:0014276 combined immunodeficiency due to CD3gamma deficiency MONDO:0021094 OMIM:615607 OMIMPS:300755 immunodeficiency disease MONDO:0014277 developmental dysplasia of the hip 2 MONDO:0000158 OMIM:615612 OMIMPS:142700 developmental dysplasia of the hip +MONDO:0014278 immunodeficiency 18 MONDO:0031520 OMIM:615615 OMIMPS:601457 familial severe combined immunodeficiency +MONDO:0014280 immunodeficiency 19 MONDO:0031520 OMIM:615617 OMIMPS:601457 familial severe combined immunodeficiency MONDO:0014283 autosomal dominant nonsyndromic hearing loss 56 MONDO:0019587 OMIM:615629 OMIMPS:124900 autosomal dominant nonsyndromic hearing loss MONDO:0014284 short-rib thoracic dysplasia 10 with or without polydactyly MONDO:0018770 OMIM:615630 OMIMPS:208500 Jeune syndrome MONDO:0014287 short-rib thoracic dysplasia 11 with or without polydactyly MONDO:0018770 OMIM:615633 OMIMPS:208500 Jeune syndrome @@ -2210,7 +2266,6 @@ MONDO:0014595 developmental and epileptic encephalopathy, 30 MONDO:0100062 OMIM: MONDO:0014596 lissencephaly 7 with cerebellar hypoplasia MONDO:0018838 OMIM:616342 OMIMPS:607432 lissencephaly spectrum disorders MONDO:0014600 dyskeratosis congenita, autosomal recessive 6 MONDO:0015780 OMIM:616353 OMIMPS:127550 dyskeratosis congenita MONDO:0014601 autosomal recessive spinocerebellar ataxia 20 MONDO:0015244 OMIM:616354 OMIMPS:213200 autosomal recessive cerebellar ataxia -MONDO:0014602 intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome MONDO:0100172 OMIM:616355 OMIMPS:156200 intellectual disability, autosomal dominant MONDO:0014603 autosomal dominant nonsyndromic hearing loss 40 MONDO:0019587 OMIM:616357 OMIMPS:124900 autosomal dominant nonsyndromic hearing loss MONDO:0014606 intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome MONDO:0100172 OMIM:616364 OMIMPS:156200 intellectual disability, autosomal dominant MONDO:0014611 multiple mitochondrial dysfunctions syndrome 4 MONDO:0017338 OMIM:616370 OMIMPS:605711 fatal multiple mitochondrial dysfunctions syndrome @@ -2299,6 +2354,7 @@ MONDO:0014779 Wilms tumor 6 MONDO:0003321 OMIM:616806 OMIMPS:194070 hereditary W MONDO:0014780 hyperphosphatasia with intellectual disability syndrome 6 MONDO:0016596 OMIM:616809 OMIMPS:239300 hyperphosphatasia-intellectual disability syndrome MONDO:0014781 combined oxidative phosphorylation deficiency 29 MONDO:0000732 OMIM:616811 OMIMPS:609060 combined oxidative phosphorylation deficiency MONDO:0014782 autosomal recessive limb-girdle muscular dystrophy type 2X MONDO:0015152 OMIM:616812 OMIMPS:253600 autosomal recessive limb-girdle muscular dystrophy +MONDO:0014785 microcephaly, short stature, and impaired glucose metabolism 2 MONDO:0800450 OMIM:616817 OMIMPS:616033 microcephaly, short stature, and impaired glucose metabolism MONDO:0014788 autosomal recessive limb-girdle muscular dystrophy type 2W MONDO:0015152 OMIM:616827 OMIMPS:253600 autosomal recessive limb-girdle muscular dystrophy MONDO:0014789 CCDC115-CDG MONDO:0005501 OMIM:616828 OMIMPS:212066 congenital disorder of glycosylation type II MONDO:0014790 TMEM199-CDG MONDO:0005501 OMIM:616829 OMIMPS:212066 congenital disorder of glycosylation type II @@ -2394,6 +2450,7 @@ MONDO:0014967 heterotaxy, visceral, 8, autosomal MONDO:0018677 OMIM:617205 OMIMP MONDO:0014970 spermatogenic failure 17 MONDO:0004983 OMIM:617214 OMIMPS:258150 spermatogenic failure MONDO:0014976 lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome MONDO:0000732 OMIM:617228 OMIMPS:609060 combined oxidative phosphorylation deficiency MONDO:0014977 autosomal recessive limb-girdle muscular dystrophy type 2R1 MONDO:0015152 OMIM:617232 OMIMPS:253600 autosomal recessive limb-girdle muscular dystrophy +MONDO:0014981 immunodeficiency 49 MONDO:0031520 OMIM:617237 OMIMPS:601457 familial severe combined immunodeficiency MONDO:0014982 myopia 25, autosomal dominant MONDO:0001384 OMIM:617238 OMIMPS:160700 myopia MONDO:0014983 congenital myasthenic syndrome 21 MONDO:0018940 OMIM:617239 OMIMPS:601462 congenital myasthenic syndrome MONDO:0014985 Fanconi anemia complementation group V MONDO:0019391 OMIM:617243 OMIMPS:227650 Fanconi anemia @@ -2434,7 +2491,11 @@ MONDO:0016862 Alagille syndrome due to a JAG1 point mutation MONDO:0007318 OMIM: MONDO:0018130 brain dopamine-serotonin vesicular transport disease MONDO:0013150 OMIM:618049 OMIMPS:613135 parkinsonism-dystonia, infantile MONDO:0018264 oculocutaneous albinism type 6 MONDO:0018910 OMIM:113750 OMIMPS:203100 oculocutaneous albinism MONDO:0018828 pseudo-TORCH syndrome 2 MONDO:0009626 OMIM:617397 OMIMPS:251290 pseudo-TORCH syndrome +MONDO:0018931 mucolipidosis type III, alpha/beta MONDO:0031422 OMIM:252600 OMIMPS:256550 familial mucolipidosis MONDO:0018996 spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 MONDO:0020771 OMIM:606002 OMIMPS:607250 spinocerebellar ataxia, autosomal recessive, with axonal neuropathy +MONDO:0019148 Wolman disease MONDO:0800449 OMIM:620151 OMIMPS:278000 lysosomal acid lipase deficiency +MONDO:0019149 cholesteryl ester storage disease MONDO:0800449 OMIM:278000 OMIMPS:278000 lysosomal acid lipase deficiency +MONDO:0020507 leukoencephalopathy with vanishing white matter 1 MONDO:0800448 OMIM:603896 OMIMPS:603896 leukoencephalopathy with vanishing white matter MONDO:0020607 Liddle syndrome 1 MONDO:0008323 OMIM:177200 OMIMPS:177200 Liddle syndrome MONDO:0020628 microcephaly, growth restriction, and increased sister chromatid exchange 2 MONDO:0020629 OMIM:618097 OMIMPS:210900 microcephaly, growth restriction and increased sister chromatid exchange MONDO:0020712 46,XY sex reversal 1 MONDO:0010765 OMIM:400044 OMIMPS:400044 46,XY complete gonadal dysgenesis @@ -2606,6 +2667,7 @@ MONDO:0029142 hearing loss, autosomal recessive 111 MONDO:0019588 OMIM:618145 OM MONDO:0029145 orofacial cleft 8 MONDO:0000358 OMIM:618149 OMIMPS:119530 orofacial cleft MONDO:0029147 spermatogenic failure 33 MONDO:0004983 OMIM:618152 OMIMPS:258150 spermatogenic failure MONDO:0029148 spermatogenic failure 34 MONDO:0004983 OMIM:618153 OMIMPS:258150 spermatogenic failure +MONDO:0029465 intellectual developmental disorder, autosomal dominant 69 MONDO:0100172 OMIM:617863 OMIMPS:156200 intellectual disability, autosomal dominant MONDO:0030004 autism, susceptibility to, 20 MONDO:0020836 OMIM:618830 OMIMPS:209850 autism, susceptiblity to MONDO:0030006 combined oxidative phosphorylation deficiency 40 MONDO:0000732 OMIM:618835 OMIMPS:609060 combined oxidative phosphorylation deficiency MONDO:0030007 combined oxidative phosphorylation deficiency 41 MONDO:0000732 OMIM:618838 OMIMPS:609060 combined oxidative phosphorylation deficiency @@ -2624,6 +2686,7 @@ MONDO:0030034 epilepsy, progressive myoclonic, 11 MONDO:0020074 OMIM:618876 OMIM MONDO:0030043 congenital disorder of glycosylation, type iit MONDO:0005501 OMIM:618885 OMIMPS:212066 congenital disorder of glycosylation type II MONDO:0030044 pseudo-TORCH syndrome 3 MONDO:0009626 OMIM:618886 OMIMPS:251290 pseudo-TORCH syndrome MONDO:0030054 developmental and epileptic encephalopathy, 86 MONDO:0100062 OMIM:618910 OMIMPS:308350 developmental and epileptic encephalopathy +MONDO:0030055 neuronopathy, distal hereditary motor, autosomal recessive 8 MONDO:0015363 OMIM:618912 OMIMPS:604320 neuronopathy, distal hereditary motor, autosomal recessive MONDO:0030056 Fanconi renotubular syndrome 5 MONDO:0100238 OMIM:618913 OMIMPS:134600 inherited Fanconi renotubular syndrome MONDO:0030058 hearing loss, autosomal dominant 77 MONDO:0019587 OMIM:618915 OMIMPS:124900 autosomal dominant nonsyndromic hearing loss MONDO:0030059 developmental and epileptic encephalopathy, 87 MONDO:0100062 OMIM:618916 OMIMPS:308350 developmental and epileptic encephalopathy @@ -2775,7 +2838,6 @@ MONDO:0030676 parkinsonism-dystonia 3, childhood-onset MONDO:0013150 OMIM:619738 MONDO:0030677 Charcot-Marie-Tooth disease, demyelinating, IIA 1I MONDO:0015626 OMIM:619742 OMIMPS:118220 Charcot-Marie-Tooth disease MONDO:0030679 Noonan syndrome 14 MONDO:0018997 OMIM:619745 OMIMPS:163950 Noonan syndrome MONDO:0030680 cardiomyopathy, dilated, 2F MONDO:0016333 OMIM:619747 OMIMPS:115200 familial dilated cardiomyopathy -MONDO:0030681 immunodeficiency 94 with autoinflammation and dysmorphic facies MONDO:0018037 OMIM:619750 OMIMPS:147060 hyper-IgE syndrome MONDO:0030684 hypogonadotropic hypogonadism 27 without anosmia MONDO:0018555 OMIM:619755 OMIMPS:147950 hypogonadotropic hypogonadism MONDO:0030689 Charcot-Marie-Tooth disease, demyelinating, IIA 1H MONDO:0015626 OMIM:619764 OMIMPS:118220 Charcot-Marie-Tooth disease MONDO:0030690 pulmonary fibrosis and/or bone marrow failure, telomere-related, 6 MONDO:0000148 OMIM:619767 OMIMPS:614742 pulmonary fibrosis and/or bone marrow failure, telomere-related @@ -2817,6 +2879,7 @@ MONDO:0030797 retinitis pigmentosa 93 MONDO:0019200 OMIM:619845 OMIMPS:268000 re MONDO:0030798 immunodeficiency 99 with hypogammaglobulinemia and autoimmune cytopenias MONDO:0021094 OMIM:619846 OMIMPS:300755 immunodeficiency disease MONDO:0030800 cholestasis, progressive familial intrahepatic, 9 MONDO:0015762 OMIM:619849 OMIMPS:211600 progressive familial intrahepatic cholestasis MONDO:0030801 monosomy 7 myelodysplasia and leukemia syndrome 2 MONDO:0044645 OMIM:619041 OMIMPS:252270 familial monosomy 7 syndrome +MONDO:0030805 spinocerebellar ataxia 49 MONDO:0020380 OMIM:619806 OMIMPS:164400 autosomal dominant cerebellar ataxia MONDO:0030809 spermatogenic failure 72 MONDO:0004983 OMIM:619867 OMIMPS:258150 spermatogenic failure MONDO:0030810 cholestasis, progressive familial intrahepatic, 10 MONDO:0015762 OMIM:619868 OMIMPS:211600 progressive familial intrahepatic cholestasis MONDO:0030813 immunodeficiency 101 (varicella zoster virus-specific) MONDO:0021094 OMIM:619872 OMIMPS:300755 immunodeficiency disease @@ -2848,8 +2911,11 @@ MONDO:0030876 cardioacrofacial dysplasia 1 MONDO:0031386 OMIM:619142 OMIMPS:6191 MONDO:0030877 cardioacrofacial dysplasia 2 MONDO:0031386 OMIM:619143 OMIMPS:619142 cardioacrofacial dysplasia MONDO:0030881 developmental and epileptic encephalopathy 102 MONDO:0100062 OMIM:619881 OMIMPS:308350 developmental and epileptic encephalopathy MONDO:0030883 carpal tunnel syndrome 2 MONDO:0007275 OMIM:619161 OMIMPS:115430 carpal tunnel syndrome +MONDO:0030885 amyotrophic lateral sclerosis 26 with or without frontotemporal dementia MONDO:0005144 OMIM:619133 OMIMPS:105400 familial amyotrophic lateral sclerosis MONDO:0030886 holoprosencephaly 14 MONDO:0016296 OMIM:619895 OMIMPS:236100 holoprosencephaly MONDO:0030887 cardiomyopathy, dilated, 2G MONDO:0016333 OMIM:619897 OMIMPS:115200 familial dilated cardiomyopathy +MONDO:0030890 pontocerebellar hypoplasia, IIA 17 MONDO:0020135 OMIM:619909 OMIMPS:607596 pontocerebellar hypoplasia +MONDO:0030891 intellectual developmental disorder, autosomal dominant 66 MONDO:0100172 OMIM:619910 OMIMPS:156200 intellectual disability, autosomal dominant MONDO:0030894 AMED syndrome, digenic MONDO:0000159 OMIM:619151 OMIMPS:614675 bone marrow failure syndrome MONDO:0030895 nephrotic syndrome, type 22 MONDO:0002350 OMIM:619155 OMIMPS:256300 familial nephrotic syndrome MONDO:0030898 immunodeficiency 76 MONDO:0021094 OMIM:619164 OMIMPS:300755 immunodeficiency disease @@ -2876,19 +2942,54 @@ MONDO:0030938 spermatogenic failure 52 MONDO:0004983 OMIM:619202 OMIMPS:258150 s MONDO:0030939 premature ovarian failure 18 MONDO:0019852 OMIM:619203 OMIMPS:311360 inherited primary ovarian failure MONDO:0030941 erythrokeratodermia variabilis et progressiva 7 MONDO:0017851 OMIM:619209 OMIMPS:133200 erythrokeratodermia variabilis MONDO:0030953 short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies 2 MONDO:0031439 OMIM:619184 OMIMPS:617877 short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies +MONDO:0030957 developmental and epileptic encephalopathy 103 MONDO:0100062 OMIM:619913 OMIMPS:308350 developmental and epileptic encephalopathy +MONDO:0030958 dystonia 35, childhood-onset MONDO:0044807 OMIM:619921 OMIMPS:128100 inherited dystonia MONDO:0030961 Olmsted syndrome 2 MONDO:0031421 OMIM:619208 OMIMPS:614594 Olmsted syndrome MONDO:0030962 nephrotic syndrome, type 23 MONDO:0002350 OMIM:619201 OMIMPS:256300 familial nephrotic syndrome +MONDO:0030964 intellectual developmental disorder, autosomal dominant 67 MONDO:0100172 OMIM:619927 OMIMPS:156200 intellectual disability, autosomal dominant +MONDO:0030968 intellectual developmental disorder, autosomal recessive 76 MONDO:0019502 OMIM:619931 OMIMPS:249500 autosomal recessive non-syndromic intellectual disability +MONDO:0030969 intellectual developmental disorder, autosomal dominant 68 MONDO:0100172 OMIM:619934 OMIMPS:156200 intellectual disability, autosomal dominant +MONDO:0030970 immunodeficiency 106, susceptibility to viral infections MONDO:0021094 OMIM:619935 OMIMPS:300755 immunodeficiency disease MONDO:0030971 immunodeficiency 78 with autoimmunity and developmental delay MONDO:0021094 OMIM:619220 OMIMPS:300755 immunodeficiency disease +MONDO:0030972 spermatogenic failure 74 MONDO:0004983 OMIM:619937 OMIMPS:258150 spermatogenic failure MONDO:0030973 immunodeficiency 77 MONDO:0021094 OMIM:619223 OMIMPS:300755 immunodeficiency disease MONDO:0030974 mitochondrial complex 2 deficiency, nuclear type 4 MONDO:0031230 OMIM:619224 OMIMPS:252011 mitochondrial complex II deficiency, nuclear type +MONDO:0030975 premature ovarian failure 20 MONDO:0019852 OMIM:619938 OMIMPS:311360 inherited primary ovarian failure +MONDO:0030977 neuronopathy, distal hereditary motor, autosomal recessive 7 MONDO:0015363 OMIM:619216 OMIMPS:604320 neuronopathy, distal hereditary motor, autosomal recessive +MONDO:0030983 Waardenburg syndrome, IIa 2F MONDO:0018094 OMIM:619947 OMIMPS:193500 Waardenburg syndrome +MONDO:0030984 spermatogenic failure 75 MONDO:0004983 OMIM:619949 OMIMPS:258150 spermatogenic failure MONDO:0030985 premature ovarian failure 19 MONDO:0019852 OMIM:619245 OMIMPS:311360 inherited primary ovarian failure MONDO:0030989 spermatogenic failure 53 MONDO:0004983 OMIM:619258 OMIMPS:258150 spermatogenic failure +MONDO:0030993 Tessadori-Van Haaften neurodevelopmental syndrome 3 MONDO:0031400 OMIM:619950 OMIMPS:619758 Tessadori-Van-Haaften neurodevelopmental syndrome MONDO:0030996 bleeding disorder, platelet-type, 24 MONDO:0000009 OMIM:619271 OMIMPS:231200 inherited bleeding disorder, platelet-type MONDO:0030997 mitochondrial complex 1 deficiency, nuclear type 37 MONDO:0100223 OMIM:619272 OMIMPS:252010 mitochondrial complex I deficiency, nuclear type MONDO:0030998 hearing loss, autosomal dominant 80 MONDO:0019587 OMIM:619274 OMIMPS:124900 autosomal dominant nonsyndromic hearing loss +MONDO:0031000 Tessadori-Van Haaften neurodevelopmental syndrome 4 MONDO:0031400 OMIM:619951 OMIMPS:619758 Tessadori-Van-Haaften neurodevelopmental syndrome MONDO:0031003 hypercholanemia, familial, 2 MONDO:0100327 OMIM:619256 OMIMPS:607748 hypercholanemia, familial MONDO:0031009 Glanzmann thrombasthenia 2 MONDO:0100326 OMIM:619267 OMIMPS:273800 Glanzmann thrombasthenia MONDO:0031010 odontochondrodysplasia 2 with hearing loss and diabetes MONDO:0031169 OMIM:619269 OMIMPS:184260 odontochondrodysplasia +MONDO:0031019 spastic paraplegia 87, autosomal recessive MONDO:0019064 OMIM:619966 OMIMPS:303350 hereditary spastic paraplegia +MONDO:0031021 developmental and epileptic encephalopathy 104 MONDO:0100062 OMIM:619970 OMIMPS:308350 developmental and epileptic encephalopathy +MONDO:0031028 developmental and epileptic encephalopathy 105 with hypopituitarism MONDO:0100062 OMIM:619983 OMIMPS:308350 developmental and epileptic encephalopathy +MONDO:0031030 immunodeficiency 107, susceptibility to invasive staphylococcus aureus infection MONDO:0021094 OMIM:619986 OMIMPS:300755 immunodeficiency disease +MONDO:0031031 intellectual developmental disorder, autosomal recessive 77 MONDO:0019502 OMIM:619988 OMIMPS:249500 autosomal recessive non-syndromic intellectual disability +MONDO:0031040 cholestasis, progressive familial intrahepatic, 12 MONDO:0015762 OMIM:620010 OMIMPS:211600 progressive familial intrahepatic cholestasis +MONDO:0031043 lymphatic malformation 12 MONDO:0019313 OMIM:620014 OMIMPS:153100 lymphatic malformation +MONDO:0031044 advance sleep phase syndrome, familial, 4 MONDO:0015609 OMIM:620015 OMIMPS:604348 advanced sleep phase syndrome +MONDO:0031045 arthrogryposis, distal, IIa 11 MONDO:0019942 OMIM:620019 OMIMPS:108120 distal arthrogryposis +MONDO:0031047 stickler syndrome, IIa 6 MONDO:0019354 OMIM:620022 OMIMPS:108300 Stickler syndrome +MONDO:0031052 developmental and epileptic encephalopathy 106 MONDO:0100062 OMIM:620028 OMIMPS:308350 developmental and epileptic encephalopathy +MONDO:0031054 ciliary dyskinesia, primary, 48, without situs inversus MONDO:0016575 OMIM:620032 OMIMPS:244400 primary ciliary dyskinesia +MONDO:0031055 developmental and epileptic encephalopathy 107 MONDO:0100062 OMIM:620033 OMIMPS:308350 developmental and epileptic encephalopathy +MONDO:0031057 dyskeratosis congenita, digenic MONDO:0015780 OMIM:620040 OMIMPS:127550 dyskeratosis congenita +MONDO:0031060 microcephaly 29, primary, autosomal recessive MONDO:0016660 OMIM:620047 OMIMPS:251200 autosomal recessive primary microcephaly +MONDO:0031061 nephrotic syndrome, IIa 26 MONDO:0002350 OMIM:620049 OMIMPS:256300 familial nephrotic syndrome +MONDO:0031062 polycystic kidney disease 7 MONDO:0020642 OMIM:620056 OMIMPS:173900 polycystic kidney disease +MONDO:0031068 Charcot-Marie-Tooth disease, axonal, IIa 2II MONDO:0015626 OMIM:620068 OMIMPS:118220 Charcot-Marie-Tooth disease +MONDO:0031071 Diamond-Blackfan anemia 21 MONDO:0015253 OMIM:620072 OMIMPS:105650 Diamond-Blackfan anemia +MONDO:0031077 spermatogenic failure 76 MONDO:0004983 OMIM:620084 OMIMPS:258150 spermatogenic failure +MONDO:0031083 spermatogenic failure 77 MONDO:0004983 OMIM:620103 OMIMPS:258150 spermatogenic failure +MONDO:0031084 amelogenesis imperfecta, IIa 1K MONDO:0019507 OMIM:620104 OMIMPS:104500 amelogenesis imperfecta MONDO:0031332 Glanzmann thrombasthenia 1 MONDO:0100326 OMIM:273800 OMIMPS:273800 Glanzmann thrombasthenia MONDO:0031446 hypercholanemia, familial 1 MONDO:0100327 OMIM:607748 OMIMPS:607748 hypercholanemia, familial MONDO:0031481 microcephaly, epilepsy, and diabetes syndrome 1 MONDO:0100328 OMIM:614231 OMIMPS:614231 microcephaly, epilepsy, and diabetes syndrome @@ -3021,6 +3122,7 @@ MONDO:0032789 intellectual developmental disorder, autosomal recessive 71 MONDO: MONDO:0032791 Coffin-Siris syndrome 10 MONDO:0015452 OMIM:618506 OMIMPS:135900 Coffin-Siris syndrome MONDO:0032794 leber congenital amaurosis 19 MONDO:0018998 OMIM:618513 OMIMPS:204000 Leber congenital amaurosis MONDO:0032796 hyper-IgE recurrent infection syndrome 4, autosomal recessive MONDO:0018037 OMIM:618523 OMIMPS:147060 hyper-IgE syndrome +MONDO:0032797 myopathy, congenital, with tremor MONDO:0019952 OMIM:618524 OMIMPS:117000 congenital myopathy MONDO:0032799 mitochondrial DNA depletion syndrome 16 (hepatic type) MONDO:0018158 OMIM:618528 OMIMPS:603041 mitochondrial DNA depletion syndrome MONDO:0032800 robinow syndrome, autosomal recessive 2 MONDO:0019978 OMIM:618529 OMIMPS:268310 Robinow syndrome MONDO:0032801 erythrokeratodermia variabilis et progressiva 6 MONDO:0017851 OMIM:618531 OMIMPS:133200 erythrokeratodermia variabilis @@ -3036,6 +3138,7 @@ MONDO:0032812 developmental and epileptic encephalopathy, 78 MONDO:0100062 OMIM: MONDO:0032813 developmental and epileptic encephalopathy, 79 MONDO:0100062 OMIM:618559 OMIMPS:308350 developmental and epileptic encephalopathy MONDO:0032815 mitochondrial DNA depletion syndrome 17 MONDO:0018158 OMIM:618567 OMIMPS:603041 mitochondrial DNA depletion syndrome MONDO:0032819 hypothyroidism, congenital, nongoitrous, 7 MONDO:0000045 OMIM:618573 OMIMPS:275200 hypothyroidism, congenital, nongoitrous +MONDO:0032821 myopathy, congenital, progressive, with scoliosis MONDO:0019952 OMIM:618578 OMIMPS:117000 congenital myopathy MONDO:0032822 developmental and epileptic encephalopathy, 80 MONDO:0100062 OMIM:618580 OMIMPS:308350 developmental and epileptic encephalopathy MONDO:0032826 nephrotic syndrome, type 21 MONDO:0002350 OMIM:618594 OMIMPS:256300 familial nephrotic syndrome MONDO:0032831 pontocerebellar hypoplasia, type 13 MONDO:0020135 OMIM:618606 OMIMPS:607596 pontocerebellar hypoplasia @@ -3046,6 +3149,7 @@ MONDO:0032844 infantile liver failure syndrome 3 MONDO:0000023 OMIM:618641 OMIMP MONDO:0032845 spermatogenic failure 39 MONDO:0004983 OMIM:618643 OMIMPS:258150 spermatogenic failure MONDO:0032846 osteogenesis imperfecta, type 20 MONDO:0019019 OMIM:618644 OMIMPS:166200 osteogenesis imperfecta MONDO:0032848 immunodeficiency 65, susceptibility to viral infections MONDO:0021094 OMIM:618648 OMIMPS:300755 immunodeficiency disease +MONDO:0032852 myopathy, congenital, with structured cores and z-line abnormalities MONDO:0019952 OMIM:618654 OMIMPS:117000 congenital myopathy MONDO:0032854 zimmermann-laband syndrome 3 MONDO:0000200 OMIM:618658 OMIMPS:135500 Zimmermann-Laband syndrome MONDO:0032857 diarrhea 11, malabsorptive, congenital MONDO:0000824 OMIM:618662 OMIMPS:214700 congenital diarrhea MONDO:0032858 developmental and epileptic encephalopathy, 81 MONDO:0100062 OMIM:618663 OMIMPS:308350 developmental and epileptic encephalopathy @@ -3084,6 +3188,8 @@ MONDO:0032918 developmental and epileptic encephalopathy, 84 MONDO:0100062 OMIM: MONDO:0032923 spinocerebellar ataxia, autosomal recessive 28 MONDO:0015244 OMIM:618800 OMIMPS:213200 autosomal recessive cerebellar ataxia MONDO:0032924 ciliary dyskinesia, primary, 45 MONDO:0016575 OMIM:618801 OMIMPS:244400 primary ciliary dyskinesia MONDO:0032932 mitochondrial DNA depletion syndrome 18 MONDO:0018158 OMIM:618811 OMIMPS:603041 mitochondrial DNA depletion syndrome +MONDO:0032936 myopathy, congenital, with respiratory insufficiency and bone fractures MONDO:0019952 OMIM:618822 OMIMPS:117000 congenital myopathy +MONDO:0032937 myopathy, congenital proximal, with minicore lesions MONDO:0019952 OMIM:618823 OMIMPS:117000 congenital myopathy MONDO:0032938 basal ganglia calcification, idiopathic, 8, autosomal recessive MONDO:0008947 OMIM:618824 OMIMPS:213600 bilateral striopallidodentate calcinosis MONDO:0032940 retinitis pigmentosa 88 MONDO:0019200 OMIM:618826 OMIMPS:268000 retinitis pigmentosa MONDO:0032941 myopia 27 MONDO:0001384 OMIM:618827 OMIMPS:160700 myopia @@ -3152,6 +3258,7 @@ MONDO:0033537 combined oxidative phosphorylation deficiency 47 MONDO:0000732 OMI MONDO:0033541 immunodeficiency 69 MONDO:0021094 OMIM:618963 OMIMPS:300755 immunodeficiency disease MONDO:0033542 immunodeficiency 70 MONDO:0021094 OMIM:618969 OMIMPS:300755 immunodeficiency disease MONDO:0033545 mitochondrial DNA depletion syndrome 19 MONDO:0018158 OMIM:618972 OMIMPS:603041 mitochondrial DNA depletion syndrome +MONDO:0033548 myopathy, congenital, with diaphragmatic defects, respiratory insufficiency, and dysmorphic facies MONDO:0019952 OMIM:618975 OMIMPS:117000 congenital myopathy MONDO:0033549 optic atrophy 12 MONDO:0043878 OMIM:618977 OMIMPS:165500 hereditary optic atrophy MONDO:0033551 immunodeficiency 72 with autoinflammation MONDO:0021094 OMIM:618982 OMIMPS:300755 immunodeficiency disease MONDO:0033556 muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type B, 15 MONDO:0000172 OMIM:618992 OMIMPS:613155 muscular dystrophy-dystroglycanopathy, type B @@ -3192,6 +3299,7 @@ MONDO:0034022 Bethlem myopathy 2 MONDO:0008029 OMIM:616471 OMIMPS:158810 Bethlem MONDO:0034022 Bethlem myopathy 2 MONDO:0020066 OMIM:616471 OMIMPS:130000 Ehlers-Danlos syndrome MONDO:0034054 severe combined immunodeficiency due to CD70 deficiency MONDO:0016537 OMIM:618261 OMIMPS:308240 lymphoproliferative syndrome MONDO:0034106 developmental and epileptic encephalopathy, 73 MONDO:0100062 OMIM:618379 OMIMPS:308350 developmental and epileptic encephalopathy +MONDO:0034109 congenital myopathy with reduced type 2 muscle fibers MONDO:0019952 OMIM:618414 OMIMPS:117000 congenital myopathy MONDO:0034121 NAD(P)HX dehydratase deficiency MONDO:0014960 OMIM:618321 OMIMPS:617186 encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy MONDO:0036482 retinitis pigmentosa 81 MONDO:0019200 OMIM:617871 OMIMPS:268000 retinitis pigmentosa MONDO:0036483 short-rib thoracic dysplasia 18 with polydactyly MONDO:0018770 OMIM:617866 OMIMPS:208500 Jeune syndrome @@ -3317,6 +3425,9 @@ MONDO:0054862 premature ovarian failure 15 MONDO:0019852 OMIM:618096 OMIMPS:3113 MONDO:0060486 arthrogryposis multiplex congenita 1, neurogenic, with myelin defect MONDO:0015168 OMIM:617468 OMIMPS:617468 arthrogryposis multiplex congenita MONDO:0060554 vertebral, cardiac, renal, and limb defects syndrome 1 MONDO:0020831 OMIM:617660 OMIMPS:617660 congenital vertebral-cardiac-renal anomalies syndrome MONDO:0060555 vertebral, cardiac, renal, and limb defects syndrome 2 MONDO:0020831 OMIM:617661 OMIMPS:617660 congenital vertebral-cardiac-renal anomalies syndrome +MONDO:0060585 neuronopathy, distal hereditary motor, type 9 MONDO:0015362 OMIM:617721 OMIMPS:182960 neuronopathy, distal hereditary motor, autosomal dominant +MONDO:0060732 tetraamelia syndrome 2 MONDO:0010110 OMIM:618021 OMIMPS:273395 tetraamelia-multiple malformations syndrome +MONDO:0060764 tetraamelia syndrome 1 MONDO:0010110 OMIM:273395 OMIMPS:273395 tetraamelia-multiple malformations syndrome MONDO:0100045 epidermodysplasia verruciformis, susceptibility to, 1 MONDO:0100043 OMIM:226400 OMIMPS:226400 epidermodysplasia verruciformis, susceptibility to MONDO:0100079 developmental and epileptic encephalopathy, 6 MONDO:0100062 OMIM:607208 OMIMPS:308350 developmental and epileptic encephalopathy MONDO:0100082 LEOPARD syndrome 1 MONDO:0007893 OMIM:151100 OMIMPS:151100 Noonan syndrome with multiple lentigines @@ -3327,21 +3438,26 @@ MONDO:0100102 fetal akinesia deformation sequence 2 MONDO:0008824 OMIM:618388 OM MONDO:0100103 fetal akinesia deformation sequence 3 MONDO:0008824 OMIM:618389 OMIMPS:208150 fetal akinesia deformation sequence MONDO:0100104 fetal akinesia deformation sequence 4 MONDO:0008824 OMIM:618393 OMIMPS:208150 fetal akinesia deformation sequence MONDO:0100105 brain small vessel disease 3 MONDO:0020496 OMIM:618360 OMIMPS:175780 familial porencephaly +MONDO:0100119 Knobloch syndrome 2 MONDO:0800166 OMIM:618458 OMIMPS:267750 Knobloch syndrome MONDO:0100156 Imerslund-Grasbeck syndrome type 1 MONDO:0009853 OMIM:261100 OMIMPS:261100 Imerslund-Grasbeck syndrome MONDO:0100157 Imerslund-Grasbeck syndrome type 2 MONDO:0009853 OMIM:618882 OMIMPS:261100 Imerslund-Grasbeck syndrome MONDO:0100165 permanent neonatal diabetes mellitus 1 MONDO:0100164 OMIM:606176 OMIMPS:606176 permanent neonatal diabetes mellitus MONDO:0100211 growth hormone insensitivity with immune dysregulation 1, autosomal recessive MONDO:0100210 OMIM:245590 OMIMPS:245590 growth hormone insensitivity syndrome with immune dysregulation MONDO:0100213 IFAP syndrome 1, with or without BRESHECK syndrome MONDO:0100212 OMIM:308205 OMIMPS:308205 IFAP syndrome MONDO:0100215 Rajab interstitial lung disease with brain calcifications 1 MONDO:0100214 OMIM:613658 OMIMPS:613658 Rajab interstitial lung disease with brain calcifications +MONDO:0100217 developmental delay with short stature, dysmorphic facial features, and sparse hair 2 MONDO:0031632 OMIM:620062 OMIMPS:616901 developmental delay with short stature, dysmorphic facial features, and sparse hair MONDO:0100218 arthrogryposis multiplex congenita 5 MONDO:0015168 OMIM:618947 OMIMPS:617468 arthrogryposis multiplex congenita MONDO:0100219 growth hormone insensitivity syndrome with immune dysregulation 2, autosomal dominant MONDO:0100210 OMIM:618985 OMIMPS:245590 growth hormone insensitivity syndrome with immune dysregulation MONDO:0100220 Rajab interstitial lung disease with brain calcifications 2 MONDO:0100214 OMIM:619013 OMIMPS:613658 Rajab interstitial lung disease with brain calcifications MONDO:0100221 IFAP syndrome 2 MONDO:0100212 OMIM:619016 OMIMPS:308205 IFAP syndrome MONDO:0100224 mitochondrial complex I deficiency, nuclear type 1 MONDO:0100223 OMIM:252010 OMIMPS:252010 mitochondrial complex I deficiency, nuclear type MONDO:0100281 macroglobulinemia, Waldenstrom, 1 MONDO:0100280 OMIM:153600 OMIMPS:153600 Waldenstrom macroglobulinemia +MONDO:0100292 Carey-Fineman-Ziter syndrome 2 MONDO:0031415 OMIM:619941 OMIMPS:254940 Carey-Fineman-Ziter syndrome MONDO:0100294 mitochondrial complex II deficiency, nuclear type 1 MONDO:0031230 OMIM:252011 OMIMPS:252011 mitochondrial complex II deficiency, nuclear type MONDO:0100296 Olmsted syndrome 1 MONDO:0031421 OMIM:614594 OMIMPS:614594 Olmsted syndrome MONDO:0100297 short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies 1 MONDO:0031439 OMIM:617877 OMIMPS:617877 short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies +MONDO:0100302 LADD syndrome 1 MONDO:0007872 OMIM:149730 OMIMPS:149730 LADD syndrome +MONDO:0100303 ichthyosis, annular epidermolytic 1 MONDO:0011870 OMIM:607602 OMIMPS:607602 annular epidermolytic ichthyosis MONDO:0100316 long QT syndrome 1 MONDO:0019171 OMIM:192500 OMIMPS:192500 familial long QT syndrome MONDO:0100325 odontochondrodysplasia 1 MONDO:0031169 OMIM:184260 OMIMPS:184260 odontochondrodysplasia MONDO:0100344 Bartter disease type 1 MONDO:0015231 OMIM:601678 OMIMPS:601678 Bartter syndrome @@ -3363,7 +3479,156 @@ MONDO:0800044 congenital disorder of deglycosylation 1 MONDO:0031376 OMIM:615273 MONDO:0800045 autoinflammatory syndrome, familial, Behcet-like 1 MONDO:0031384 OMIM:616744 OMIMPS:616744 autoinflammatory syndrome, familial, Behcet-like MONDO:0800046 thyroid hormone metabolism, abnormal 1 MONDO:0031432 OMIM:609698 OMIMPS:609698 thyroid hormone metabolism, abnormal MONDO:0800047 macrothrombocytopenia, isolated, 1, autosomal dominant MONDO:0031447 OMIM:613112 OMIMPS:613112 macrothrombocytopenia, isolated +MONDO:0800104 immunodeficiency 105 MONDO:0031520 OMIM:619924 OMIMPS:601457 familial severe combined immunodeficiency +MONDO:0800131 hyper-IgE recurrent infection syndrome 4A, autosomal dominant MONDO:0018037 OMIM:619752 OMIMPS:147060 hyper-IgE syndrome +MONDO:0800167 Knobloch syndrome 1 MONDO:0800166 OMIM:267750 OMIMPS:267750 Knobloch syndrome +MONDO:0800341 congenital myopathy 4A, autosomal dominant MONDO:0019952 OMIM:255310 OMIMPS:117000 congenital myopathy +MONDO:0800436 craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development 1 MONDO:0031329 OMIM:213980 OMIMPS:213980 craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development syndrome +MONDO:0800437 Carey-Fineman-Ziter syndrome 1 MONDO:0031415 OMIM:254940 OMIMPS:254940 Carey-Fineman-Ziter syndrome +MONDO:0800438 developmental delay with short stature, dysmorphic facial features, and sparse hair 1 MONDO:0031632 OMIM:616901 OMIMPS:616901 developmental delay with short stature, dysmorphic facial features, and sparse hair +MONDO:0800445 Birt-Hogg-Dube syndrome 1 MONDO:0800444 OMIM:135150 OMIMPS:135150 Birt-Hogg-Dube syndrome +MONDO:0800455 Birt-Hogg-Dube syndrome 2 MONDO:0800444 OMIM:620459 OMIMPS:135150 Birt-Hogg-Dube syndrome +MONDO:0859086 intellectual developmental disorder, X-linked 110 MONDO:0019181 OMIM:301095 OMIMPS:309530 non-syndromic X-linked intellectual disability +MONDO:0859160 Mitochondrial complex IV deficiency, nuclear type 22 MONDO:0033885 OMIM:619355 OMIMPS:220110 mitochondrial complex IV deficiency, nuclear-type +MONDO:0859192 cerebral cavernous malformation 4 MONDO:0031037 OMIM:619538 OMIMPS:116860 famililal cerebral cavernous malformations +MONDO:0859228 combined oxidative phosphorylation deficiency 55 MONDO:0000732 OMIM:619743 OMIMPS:609060 combined oxidative phosphorylation deficiency +MONDO:0859242 leukodystrophy, hypomyelinating, 24 MONDO:0019046 OMIM:619851 OMIMPS:312080 leukodystrophy +MONDO:0859245 spinocerebellar ataxia, autosomal recessive 32 MONDO:0015244 OMIM:619862 OMIMPS:213200 autosomal recessive cerebellar ataxia +MONDO:0859264 congenital myopathy 11 MONDO:0019952 OMIM:619967 OMIMPS:117000 congenital myopathy +MONDO:0859279 spinal muscular atrophy, distal, autosomal recessive, 6 MONDO:0015363 OMIM:620011 OMIMPS:604320 neuronopathy, distal hereditary motor, autosomal recessive +MONDO:0859300 neuronopathy, distal hereditary motor, autosomal dominant 10 MONDO:0015362 OMIM:620080 OMIMPS:182960 neuronopathy, distal hereditary motor, autosomal dominant +MONDO:0859308 retinitis pigmentosa 95 MONDO:0019200 OMIM:620102 OMIMPS:268000 retinitis pigmentosa +MONDO:0859309 spastic paraplegia 88, autosomal dominant MONDO:0019064 OMIM:620106 OMIMPS:303350 hereditary spastic paraplegia +MONDO:0859311 Charcot-Marie-Tooth disease, demyelinating, type 1J MONDO:0015626 OMIM:620111 OMIMPS:118220 Charcot-Marie-Tooth disease +MONDO:0859314 developmental and epileptic encephalopathy 108 MONDO:0100062 OMIM:620115 OMIMPS:308350 developmental and epileptic encephalopathy +MONDO:0859319 dyskeratosis congenita, autosomal recessive 8 MONDO:0015780 OMIM:620133 OMIMPS:127550 dyskeratosis congenita +MONDO:0859320 mitochondrial complex I deficiency, nuclear type 39 MONDO:0100223 OMIM:620135 OMIMPS:252010 mitochondrial complex I deficiency, nuclear type +MONDO:0859321 mitochondrial complex 3 deficiency, nuclear type 11 MONDO:0020811 OMIM:620137 OMIMPS:124000 mitochondrial complex III deficiency, nuclear type +MONDO:0859323 combined oxidative phosphorylation deficiency 56 MONDO:0000732 OMIM:620139 OMIMPS:609060 combined oxidative phosphorylation deficiency +MONDO:0859325 developmental and epileptic encephalopathy 109 MONDO:0100062 OMIM:620145 OMIMPS:308350 developmental and epileptic encephalopathy +MONDO:0859327 developmental and epileptic encephalopathy 110 MONDO:0100062 OMIM:620149 OMIMPS:308350 developmental and epileptic encephalopathy +MONDO:0859328 hypomagnesemia 7, renal, with or without dilated cardiomyopathy MONDO:0018100 OMIM:620152 OMIMPS:602014 familial primary hypomagnesemia +MONDO:0859329 mosaic variegated aneuploidy syndrome 4 MONDO:0000141 OMIM:620153 OMIMPS:257300 mosaic variegated aneuploidy syndrome +MONDO:0859330 oocyte maturation defect 13 MONDO:0014769 OMIM:620154 OMIMPS:615774 inherited oocyte maturation defect +MONDO:0859332 cortical dysplasia, complex, with other brain malformations 11 MONDO:0000904 OMIM:620156 OMIMPS:614039 complex cortical dysplasia with other brain malformations +MONDO:0859333 intellectual developmental disorder, autosomal dominant 70 MONDO:0100172 OMIM:620157 OMIMPS:156200 intellectual disability, autosomal dominant +MONDO:0859334 spinocerebellar ataxia 50 MONDO:0020380 OMIM:620158 OMIMPS:164400 autosomal dominant cerebellar ataxia +MONDO:0859335 congenital myopathy 15 MONDO:0019952 OMIM:620161 OMIMPS:117000 congenital myopathy +MONDO:0859337 combined oxidative phosphorylation deficiency 57 MONDO:0000732 OMIM:620167 OMIMPS:609060 combined oxidative phosphorylation deficiency +MONDO:0859338 spermatogenic failure 78 MONDO:0004983 OMIM:620170 OMIMPS:258150 spermatogenic failure +MONDO:0859339 tooth agenesis, selective, 10 MONDO:0005486 OMIM:620173 OMIMPS:106600 tooth agenesis +MONDO:0859340 spinocerebellar ataxia 27B, late-onset MONDO:0020380 OMIM:620174 OMIMPS:164400 autosomal dominant cerebellar ataxia +MONDO:0859341 hypotrichosis 15 MONDO:0003037 OMIM:620177 OMIMPS:605389 hypotrichosis +MONDO:0859342 microcephaly 30, primary, autosomal recessive MONDO:0016660 OMIM:620183 OMIMPS:251200 autosomal recessive primary microcephaly +MONDO:0859346 mosaic variegated aneuploidy syndrome 7 with inflammation and tumor predisposition MONDO:0000141 OMIM:620189 OMIMPS:257300 mosaic variegated aneuploidy syndrome +MONDO:0859352 spermatogenic failure 79 MONDO:0004983 OMIM:620196 OMIMPS:258150 spermatogenic failure +MONDO:0859353 ciliary dyskinesia, primary, 49, without situs inversus MONDO:0016575 OMIM:620197 OMIMPS:244400 primary ciliary dyskinesia +MONDO:0859354 thyroid hormone metabolism, abnormal, 3 MONDO:0031432 OMIM:620198 OMIMPS:609698 thyroid hormone metabolism, abnormal +MONDO:0859356 congenital disorder of glycosylation, type IIy MONDO:0005501 OMIM:620200 OMIMPS:212066 congenital disorder of glycosylation type II +MONDO:0859357 congenital disorder of glycosylation, type IIz MONDO:0005501 OMIM:620201 OMIMPS:212066 congenital disorder of glycosylation type II +MONDO:0859358 cardiomyopathy, dilated, 2H MONDO:0016333 OMIM:620203 OMIMPS:115200 familial dilated cardiomyopathy +MONDO:0859360 spinocerebellar ataxia, autosomal recessive 33 MONDO:0015244 OMIM:620208 OMIMPS:213200 autosomal recessive cerebellar ataxia +MONDO:0859362 hyperinsulinemic hypoglycemia, familial, 8 MONDO:0005803 OMIM:620211 OMIMPS:256450 hyperinsulinemic hypoglycemia +MONDO:0859363 spastic paraplegia 79A, autosomal dominant, with ataxia MONDO:0019064 OMIM:620221 OMIMPS:303350 hereditary spastic paraplegia +MONDO:0859364 spermatogenic failure 80 MONDO:0004983 OMIM:620222 OMIMPS:258150 spermatogenic failure +MONDO:0859366 hearing loss, autosomal dominant 85 MONDO:0019587 OMIM:620227 OMIMPS:124900 autosomal dominant nonsyndromic hearing loss +MONDO:0859367 retinitis pigmentosa 96 MONDO:0019200 OMIM:620228 OMIMPS:268000 retinitis pigmentosa +MONDO:0859372 cardiomyopathy, familial hypertrophic, 29, with polyglucosan bodies MONDO:0024573 OMIM:620236 OMIMPS:192600 familial hypertrophic cardiomyopathy +MONDO:0859373 intellectual developmental disorder, autosomal recessive 78 MONDO:0019502 OMIM:620237 OMIMPS:249500 autosomal recessive non-syndromic intellectual disability +MONDO:0859374 hearing loss, autosomal recessive 120 MONDO:0019588 OMIM:620238 OMIMPS:220290 hearing loss, autosomal recessive +MONDO:0859378 leukodystrophy, hypomyelinating, 25 MONDO:0019046 OMIM:620243 OMIMPS:312080 leukodystrophy +MONDO:0859379 lymphatic malformation 13 MONDO:0019313 OMIM:620244 OMIMPS:153100 lymphatic malformation +MONDO:0859380 episodic kinesigenic dyskinesia 3 MONDO:0044202 OMIM:620245 OMIMPS:128200 episodic kinesigenic dyskinesia +MONDO:0859381 cardiomyopathy, dilated, 100 MONDO:0016333 OMIM:620247 OMIMPS:115200 familial dilated cardiomyopathy +MONDO:0859382 cataract 50 with or without glaucoma MONDO:0005129 OMIM:620253 OMIMPS:116200 cataract +MONDO:0859477 spermatogenic failure, X-linked, 5 MONDO:0004983 OMIM:301099 OMIMPS:258150 spermatogenic failure +MONDO:0859478 spermatogenic failure, X-linked, 6 MONDO:0004983 OMIM:301101 OMIMPS:258150 spermatogenic failure +MONDO:0859514 congenital myopathy 18 MONDO:0019952 OMIM:620246 OMIMPS:117000 congenital myopathy +MONDO:0859515 congenital myopathy 10b, mild variant MONDO:0019952 OMIM:620249 OMIMPS:117000 congenital myopathy +MONDO:0859517 congenital myopathy 2b, severe infantile, autosomal recessive MONDO:0019952 OMIM:620265 OMIMPS:117000 congenital myopathy +MONDO:0859518 leukodystrophy, hypomyelinating, 26, with chondrodysplasia MONDO:0019046 OMIM:620269 OMIMPS:312080 leukodystrophy +MONDO:0859520 Mitochondrial complex IV deficiency, nuclear type 23 MONDO:0033885 OMIM:620275 OMIMPS:220110 mitochondrial complex IV deficiency, nuclear-type +MONDO:0859521 oocyte maturation defect 14 MONDO:0014769 OMIM:620276 OMIMPS:615774 inherited oocyte maturation defect +MONDO:0859522 spermatogenic failure 81 MONDO:0004983 OMIM:620277 OMIMPS:258150 spermatogenic failure +MONDO:0859523 congenital myopathy 2c, severe infantile, autosomal dominant MONDO:0019952 OMIM:620278 OMIMPS:117000 congenital myopathy +MONDO:0859524 hearing loss, autosomal dominant 86 MONDO:0019587 OMIM:620280 OMIMPS:124900 autosomal dominant nonsyndromic hearing loss +MONDO:0859525 hearing loss, autosomal dominant 87 MONDO:0019587 OMIM:620281 OMIMPS:124900 autosomal dominant nonsyndromic hearing loss +MONDO:0859526 immunodeficiency 109 with lymphoproliferation MONDO:0021094 OMIM:620282 OMIMPS:300755 immunodeficiency disease +MONDO:0859527 hearing loss, autosomal dominant 88 MONDO:0019587 OMIM:620283 OMIMPS:124900 autosomal dominant nonsyndromic hearing loss +MONDO:0859528 hearing loss, autosomal dominant 89 MONDO:0019587 OMIM:620284 OMIMPS:124900 autosomal dominant nonsyndromic hearing loss +MONDO:0859529 amyotrophic lateral sclerosis 27, juvenile MONDO:0005144 OMIM:620285 OMIMPS:105400 familial amyotrophic lateral sclerosis +MONDO:0859564 epilepsy, X-linked 2, with or without impaired intellectual development and dysmorphic features MONDO:0859390 OMIM:301091 OMIMPS:300491 epilepsy, X-linked, with or without impaired intellectual development and dysmorphic features MONDO:0859565 atrioventricular septal defect MONDO:0020290 OMIM:606215 OMIMPS:606215 familial atrioventricular septal defect +MONDO:0859567 craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development syndrome 2 MONDO:0031329 OMIM:616994 OMIMPS:213980 craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development syndrome +MONDO:0859568 macular dystrophy, retinal, 4 MONDO:0031166 OMIM:619977 OMIMPS:136550 macular dystrophy, retinal +MONDO:0859569 braddock-carey syndrome 1 MONDO:0031646 OMIM:619980 OMIMPS:619980 Braddock-Carey syndrome +MONDO:0859570 braddock-carey syndrome 2 MONDO:0031646 OMIM:619981 OMIMPS:619980 Braddock-Carey syndrome +MONDO:0859571 diaphragmatic hernia 4, with cardiovascular defects MONDO:0005711 OMIM:620025 OMIMPS:142340 congenital diaphragmatic hernia +MONDO:0859572 cardiac valvular dysplasia 2 MONDO:0031323 OMIM:620067 OMIMPS:212093 cardiac valvular defect +MONDO:0859573 bent bone dysplasia syndrome 2 MONDO:0031615 OMIM:620076 OMIMPS:614592 familial bent bone dysplasia syndrome +MONDO:0859574 ichthyosis, annular epidermolytic, 2 MONDO:0011870 OMIM:620148 OMIMPS:607602 annular epidermolytic ichthyosis +MONDO:0859575 Atelis syndrome 1 MONDO:0000141 OMIM:620184 OMIMPS:257300 mosaic variegated aneuploidy syndrome +MONDO:0859575 Atelis syndrome 1 MONDO:0859393 OMIM:620184 OMIMPS:620184 Atelis syndrome +MONDO:0859576 Atelis syndrome 2 MONDO:0000141 OMIM:620185 OMIMPS:257300 mosaic variegated aneuploidy syndrome +MONDO:0859576 Atelis syndrome 2 MONDO:0859393 OMIM:620185 OMIMPS:620184 Atelis syndrome +MONDO:0859577 lacrimoauriculodentodigital syndrome 2 MONDO:0007872 OMIM:620192 OMIMPS:149730 LADD syndrome +MONDO:0859578 lacrimoauriculodentodigital syndrome 3 MONDO:0007872 OMIM:620193 OMIMPS:149730 LADD syndrome +MONDO:0957202 spermatogenic failure, X-linked, 7 MONDO:0004983 OMIM:301106 OMIMPS:258150 spermatogenic failure +MONDO:0957203 intellectual developmental disorder, X-linked 111 MONDO:0019181 OMIM:301107 OMIMPS:309530 non-syndromic X-linked intellectual disability +MONDO:0957208 pituitary hormone deficiency, combined or isolated, 8 MONDO:0013099 OMIM:620303 OMIMPS:613038 combined pituitary hormone deficiencies, genetic form +MONDO:0957215 congenital myopathy 20 MONDO:0019952 OMIM:620310 OMIMPS:117000 congenital myopathy +MONDO:0957216 premature ovarian failure 21 MONDO:0019852 OMIM:620311 OMIMPS:311360 inherited primary ovarian failure +MONDO:0957217 cortical dysplasia, complex, with other brain malformations 12 MONDO:0000904 OMIM:620316 OMIMPS:614039 complex cortical dysplasia with other brain malformations +MONDO:0957220 oocyte/zygote/embryo maturation arrest 17 MONDO:0014769 OMIM:620319 OMIMPS:615774 inherited oocyte maturation defect +MONDO:0957221 spastic paraplegia 70, autosomal recessive MONDO:0019064 OMIM:620323 OMIMPS:303350 hereditary spastic paraplegia +MONDO:0957224 congenital myopathy 21 with early respiratory failure MONDO:0019952 OMIM:620326 OMIMPS:117000 congenital myopathy +MONDO:0957228 intellectual developmental disorder, autosomal dominant 71, with behavioral abnormalities MONDO:0100172 OMIM:620330 OMIMPS:156200 intellectual disability, autosomal dominant +MONDO:0957229 hatipoglu immunodeficiency syndrome MONDO:0021094 OMIM:620331 OMIMPS:300755 immunodeficiency disease +MONDO:0957230 oocyte/zygote/embryo maturation arrest 18 MONDO:0014769 OMIM:620332 OMIMPS:615774 inherited oocyte maturation defect +MONDO:0957231 oocyte/zygote/embryo maturation arrest 19 MONDO:0014769 OMIM:620333 OMIMPS:615774 inherited oocyte maturation defect +MONDO:0957240 cone-rod dystrophy 24 MONDO:0015993 OMIM:620342 OMIMPS:120970 cone-rod dystrophy +MONDO:0957247 congenital myopathy 22A, classic MONDO:0019952 OMIM:620351 OMIMPS:117000 congenital myopathy +MONDO:0957248 developmental and epileptic encephalopathy 31B MONDO:0100062 OMIM:620352 OMIMPS:308350 developmental and epileptic encephalopathy +MONDO:0957249 spermatogenic failure 82 MONDO:0004983 OMIM:620353 OMIMPS:258150 spermatogenic failure +MONDO:0957250 spermatogenic failure 83 MONDO:0004983 OMIM:620354 OMIMPS:258150 spermatogenic failure +MONDO:0957252 ciliary dyskinesia, primary, 50 MONDO:0016575 OMIM:620356 OMIMPS:244400 primary ciliary dyskinesia +MONDO:0957253 diarrhea 13 MONDO:0000824 OMIM:620357 OMIMPS:214700 congenital diarrhea +MONDO:0957254 mitochondrial complex V (ATP synthase) deficiency, nuclear type 4A MONDO:0014471 OMIM:620358 OMIMPS:604273 mitochondrial proton-transporting ATP synthase complex deficiency +MONDO:0957255 mitochondrial complex V (ATP synthase) deficiency, nuclear type 7 MONDO:0014471 OMIM:620359 OMIMPS:604273 mitochondrial proton-transporting ATP synthase complex deficiency +MONDO:0957261 pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 7 MONDO:0000148 OMIM:620365 OMIMPS:614742 pulmonary fibrosis and/or bone marrow failure, telomere-related +MONDO:0957262 osteopetrosis, autosomal recessive 9 MONDO:0019026 OMIM:620366 OMIMPS:259700 autosomal recessive osteopetrosis +MONDO:0957263 pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 8 MONDO:0000148 OMIM:620367 OMIMPS:614742 pulmonary fibrosis and/or bone marrow failure, telomere-related +MONDO:0957264 cerebroretinal microangiopathy with calcifications and cysts 3 MONDO:0012815 OMIM:620368 OMIMPS:612199 Coats plus syndrome +MONDO:0957265 congenital myopathy 22B, severe fetal MONDO:0019952 OMIM:620369 OMIMPS:117000 congenital myopathy +MONDO:0957270 muscular dystrophy, limb-girdle, autosomal recessive 28 MONDO:0015152 OMIM:620375 OMIMPS:253600 autosomal recessive limb-girdle muscular dystrophy +MONDO:0957274 spastic paraplegia 89, autosomal recessive MONDO:0019064 OMIM:620379 OMIMPS:303350 hereditary spastic paraplegia +MONDO:0957278 oocyte/zygote/embryo maturation arrest 20 MONDO:0014769 OMIM:620383 OMIMPS:615774 inherited oocyte maturation defect +MONDO:0957281 nemaline myopathy 5B, autosomal recessive, childhood-onset MONDO:0018958 OMIM:620386 OMIMPS:161800 nemaline myopathy +MONDO:0957284 nemaline myopathy 5C, autosomal dominant MONDO:0018958 OMIM:620389 OMIMPS:161800 nemaline myopathy +MONDO:0957288 intellectual developmental disorder, autosomal recessive 79 MONDO:0019502 OMIM:620393 OMIMPS:249500 autosomal recessive non-syndromic intellectual disability +MONDO:0957294 pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 9 MONDO:0000148 OMIM:620400 OMIMPS:614742 pulmonary fibrosis and/or bone marrow failure, telomere-related +MONDO:0957301 spermatogenic failure 84 MONDO:0004983 OMIM:620409 OMIMPS:258150 spermatogenic failure +MONDO:0957308 spastic paraplegia 90A, autosomal dominant MONDO:0019064 OMIM:620416 OMIMPS:303350 hereditary spastic paraplegia +MONDO:0957309 spastic paraplegia 90B, autosomal recessive MONDO:0019064 OMIM:620417 OMIMPS:303350 hereditary spastic paraplegia +MONDO:0957382 multiple mitochondrial dysfunctions syndrome 7 MONDO:0017338 OMIM:620423 OMIMPS:605711 fatal multiple mitochondrial dysfunctions syndrome +MONDO:0957385 dystonia 37, early-onset, with striatal lesions MONDO:0044807 OMIM:620427 OMIMPS:128100 inherited dystonia +MONDO:0957388 autoimmune disease, multisystem, infantile-onset, 3 MONDO:0000213 OMIM:620430 OMIMPS:615952 autoimmune disease, multisystem, infantile-onset +MONDO:0957396 ciliary dyskinesia, primary, 51 MONDO:0016575 OMIM:620438 OMIMPS:244400 primary ciliary dyskinesia +MONDO:0957397 intellectual developmental disorder, autosomal dominant 72 MONDO:0100172 OMIM:620439 OMIMPS:156200 intellectual disability, autosomal dominant +MONDO:0957495 hemolytic uremic syndrome, atypical, 8, with rhizomelic short stature MONDO:0957097 OMIM:301110 OMIMPS:235400 hereditary hemolytic uremic syndrome +MONDO:0957496 intellectual developmental disorder, X-linked 112 MONDO:0019181 OMIM:301111 OMIMPS:309530 non-syndromic X-linked intellectual disability +MONDO:0957530 breast-ovarian cancer, familial, susceptibility to, 5 MONDO:0100526 OMIM:620442 OMIMPS:604370 breast-ovarian cancer, familial, susceptibility to +MONDO:0957533 megalencephalic leukoencephalopathy with subcortical cysts 3 MONDO:0000137 OMIM:620447 OMIMPS:604004 leukoencephalopathy, megalencephalic +MONDO:0957534 megalencephalic leukoencephalopathy with subcortical cysts 4, remitting MONDO:0000137 OMIM:620448 OMIMPS:604004 leukoencephalopathy, megalencephalic +MONDO:0957535 immunodeficiency 112 MONDO:0021094 OMIM:620449 OMIMPS:300755 immunodeficiency disease +MONDO:0957537 combined oxidative phosphorylation deficiency 58 MONDO:0000732 OMIM:620451 OMIMPS:609060 combined oxidative phosphorylation deficiency +MONDO:0957538 amyotrophic lateral sclerosis 28 MONDO:0005144 OMIM:620452 OMIMPS:105400 familial amyotrophic lateral sclerosis +MONDO:0957539 dystonia 22, juvenile-onset MONDO:0044807 OMIM:620453 OMIMPS:128100 inherited dystonia +MONDO:0957540 congenital disorder of glycosylation, type IIaa MONDO:0005501 OMIM:620454 OMIMPS:212066 congenital disorder of glycosylation type II +MONDO:0957542 dystonia 22, adult-onset MONDO:0044807 OMIM:620456 OMIMPS:128100 inherited dystonia +MONDO:0957543 auriculocondylar syndrome 4 MONDO:0000107 OMIM:620457 OMIMPS:602483 auriculocondylar syndrome +MONDO:0957544 auriculocondylar syndrome 2B MONDO:0000107 OMIM:620458 OMIMPS:602483 auriculocondylar syndrome +MONDO:0957545 cardiomyopathy, dilated, 2I MONDO:0016333 OMIM:620462 OMIMPS:115200 familial dilated cardiomyopathy MONDO:8000006 WHIM syndrome 1 MONDO:0023880 OMIM:193670 OMIMPS:193670 WHIM syndrome MONDO:8000008 Martsolf syndrome 1 MONDO:0023910 OMIM:212720 OMIMPS:212720 Martsolf syndrome MONDO:8000011 visceral neuropathy, familial, 1, autosomal recessive MONDO:0023961 OMIM:243180 OMIMPS:243180 visceral neuropathy, familial diff --git a/src/ontology/reports/sync-subClassOf.direct-in-mondo-only.tsv b/src/ontology/reports/sync-subClassOf.direct-in-mondo-only.tsv index 58966c67..56b203bd 100644 --- a/src/ontology/reports/sync-subClassOf.direct-in-mondo-only.tsv +++ b/src/ontology/reports/sync-subClassOf.direct-in-mondo-only.tsv @@ -1,1783 +1,2858 @@ subject_id object_id in_any_source subject_label object_label in_icd10cm in_ordo in_ncit in_icd10who in_gard in_omim in_doid -MONDO:0000022 MONDO:0024290 True nocturnal enuresis enuresis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000087 MONDO:0002320 True polymicrogyria congenital nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0000004 MONDO:0002816 True adrenocortical insufficiency adrenal cortex disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000062 MONDO:0021129 True isolated microphthalmia microphthalmia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000110 MONDO:0015411 True bifid nose facial cleft UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0000127 MONDO:0019695 True geleophysic dysplasia acromelic dysplasia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0000133 MONDO:0006025 True immunodeficiency-centromeric instability-facial anomalies syndrome autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000136 MONDO:0018855 True keratosis follicularis spinulosa decalvans keratosis pilaris atrophicans UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000141 MONDO:0015356 True mosaic variegated aneuploidy syndrome hereditary neoplastic syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0000141 MONDO:0019040 True mosaic variegated aneuploidy syndrome chromosomal disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0000147 MONDO:0021075 True polyposis neoplastic polyp UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000159 MONDO:0003225 True bone marrow failure syndrome bone marrow disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000190 MONDO:0007263 True ventricular fibrillation cardiac rhythm disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0000153 MONDO:0019512 True transposition of the great arteries congenital heart malformation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0000170 MONDO:0016764 True microphthalmia, isolated, with coloboma isolated anophthalmia-microphthalmia syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0000171 MONDO:0018276 True muscular dystrophy-dystroglycanopathy, type A muscular dystrophy-dystroglycanopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0000172 MONDO:0018276 True muscular dystrophy-dystroglycanopathy, type B muscular dystrophy-dystroglycanopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000179 MONDO:0015148 True Neu-Laxova syndrome lissencephaly type 3 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0000179 MONDO:0015159 True Neu-Laxova syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0000193 MONDO:0015898 True cortisone reductase deficiency adrenogenital syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0000208 MONDO:0800450 True microcephaly, short stature, and impaired glucose metabolism 1 microcephaly, short stature, and impaired glucose metabolism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0000209 MONDO:0015168 True prenatal-onset spinal muscular atrophy with congenital bone fractures arthrogryposis multiplex congenita UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0000209 MONDO:0024257 True prenatal-onset spinal muscular atrophy with congenital bone fractures hereditary motor neuron disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0000214 MONDO:0019052 True hypermanganesemia with dystonia inborn errors of metabolism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000222 MONDO:0001027 True seminal vesicle acute gonorrhea gonococcal seminal vesiculitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000225 MONDO:0016003 True human monocytic ehrlichiosis ehrlichiosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0000226 MONDO:0005066 True mineral metabolism disease metabolic disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000327 MONDO:0020590 True Buruli ulcer disease mycobacterial infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000334 MONDO:0006869 True multinodular goiter nodular goiter UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0000337 MONDO:0005108 True exanthema subitum viral infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0000359 MONDO:0018234 True spondylocostal dysostosis dysostosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0000365 MONDO:0020366 True primary congenital glaucoma congenital glaucoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000371 MONDO:0004647 True oral cavity carcinoma in situ in situ carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0000227 MONDO:0001195 True African tick-bite fever spotted fever UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000232 MONDO:0001195 True Flinders island spotted fever spotted fever UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000233 MONDO:0001195 True Japanese spotted fever spotted fever UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000234 MONDO:0001195 True Rickettsia parkeri spotted fever spotted fever UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000236 MONDO:0001701 True oropharyngeal anthrax gastrointestinal anthrax UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000239 MONDO:0000308 True adiaspiromycosis primary systemic mycosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000241 MONDO:0006873 True Keshan disease nutritional deficiency disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000242 MONDO:0004678 True tinea barbae dermatophytosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000243 MONDO:0004678 True ectothrix infectious disease dermatophytosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000244 MONDO:0004678 True endothrix infectious disease dermatophytosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000245 MONDO:0001461 True tinea imbricata tinea corporis UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000249 MONDO:0001673 True secretory diarrhea diarrheal disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000252 MONDO:0001673 True inflammatory diarrhea diarrheal disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000254 MONDO:0002041 True cutaneous mycosis fungal infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000256 MONDO:0002041 True systemic mycosis fungal infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000257 MONDO:0001673 True acute diarrhea diarrheal disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000259 MONDO:0005502 True asymptomatic dengue dengue disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000262 MONDO:0004795 True otomycosis otitis externa UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000265 MONDO:0005275 True aspiration pneumonia lung disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000266 MONDO:0005657 True pulmonary aspergilloma aspergillosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000270 MONDO:0005087 True lower respiratory tract disorder respiratory system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000271 MONDO:0006002 True tuberculous salpingitis urogenital tuberculosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000273 MONDO:0019376 True Kunjin virus infectous disease West-Nile encephalitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000282 MONDO:0005108 True Whitewater Arroyo hemorrhagic fever viral infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000283 MONDO:0005784 True Hantavirus hemorrhagic fever with renal syndrome, Seoul virus type hantavirus hemorrhagic fever with renal syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000284 MONDO:0005784 True Hantavirus hemorrhagic fever with renal syndrome, Puumala virus type hantavirus hemorrhagic fever with renal syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000286 MONDO:0006011 True Epstein-Barr virus hepatitis viral hepatitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000288 MONDO:0005154 True polycystic echinococcosis liver disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000288 MONDO:0005738 True polycystic echinococcosis echinococcosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000290 MONDO:0002428 True primary amebic meningoencephalitis protozoa infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000291 MONDO:0002428 True granulomatous amebic encephalitis protozoa infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000295 MONDO:0004664 True acanthocephaliasis helminthiasis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000303 MONDO:0000255 True conidiobolomycosis subcutaneous mycosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000307 MONDO:0005135 True parasitic Ichthyosporea infectious disease parasitic infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000308 MONDO:0000256 True primary systemic mycosis systemic mycosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000309 MONDO:0004892 True aniseikonia refractive error UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000310 MONDO:0017881 True Alkhurma hemorrhagic fever Kyasanur forest disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000313 MONDO:0002319 True hypophosphatemia phosphorus metabolism disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000314 MONDO:0005113 True primary bacterial infectious disease bacterial infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000315 MONDO:0005113 True commensal bacterial infectious disease bacterial infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000316 MONDO:0005113 True opportunistic bacterial infectious disease bacterial infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000320 MONDO:0018077 True glandular tularemia tularemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000321 MONDO:0018077 True typhoidal tularemia tularemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000327 MONDO:0000314 True Buruli ulcer disease primary bacterial infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000328 MONDO:0002319 True hyperphosphatemia phosphorus metabolism disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000330 MONDO:0001246 True endemic typhus typhus UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000331 MONDO:0001195 True Rickettsia helvetica spotted fever spotted fever UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000332 MONDO:0000314 True sennetsu fever primary bacterial infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000333 MONDO:0005714 True early congenital syphilis congenital syphilis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000335 MONDO:0004944 True parenchymatous neurosyphilis neurosyphilis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000336 MONDO:0004944 True meningovascular neurosyphilis neurosyphilis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000337 MONDO:0005108 True exanthema subitum viral infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000338 MONDO:0004651 True variola major infectious disease smallpox UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000339 MONDO:0000341 True spinal polio paralytic poliomyelitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000340 MONDO:0000341 True bulbospinal polio paralytic poliomyelitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000341 MONDO:0017373 True paralytic poliomyelitis poliomyelitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000346 MONDO:0005784 True Hantavirus hemorrhagic fever with renal syndrome, Dobrava-Belgrade virus type hantavirus hemorrhagic fever with renal syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000351 MONDO:0004736 True disorder of methionine catabolism inborn disorder of amino acid metabolism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000355 MONDO:0019950 True Ullrich congenital muscular dystrophy congenital muscular dystrophy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000359 MONDO:0000812 True spondylocostal dysostosis vertebral column disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000359 MONDO:0018234 True spondylocostal dysostosis dysostosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000363 MONDO:0004497 True gummatous syphilis tertiary syphilis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000368 MONDO:0018076 True extrapulmonary tuberculosis tuberculosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000369 MONDO:0000368 True abdominal tuberculosis extrapulmonary tuberculosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000371 MONDO:0004647 True oral cavity carcinoma in situ in situ carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0000371 MONDO:0044925 True oral cavity carcinoma in situ oral cavity carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000372 MONDO:0004647 True pharynx carcinoma in situ in situ carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0000372 MONDO:0004647 True pharynx carcinoma in situ in situ carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0000372 MONDO:0021345 True pharynx carcinoma in situ carcinoma of pharynx UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0000373 MONDO:0004647 True gall bladder carcinoma in situ in situ carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000376 MONDO:0004992 True respiratory system cancer cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000376 MONDO:0005087 True respiratory system cancer respiratory system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0000377 MONDO:0006266 True malignant Leydig cell tumor Leydig cell tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0000378 MONDO:0002696 True malignant Sertoli cell tumor Sertoli cell tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0000380 MONDO:0020669 True paranasal sinus carcinoma paranasal sinus cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0000380 MONDO:0056819 True paranasal sinus carcinoma nasal cavity and paranasal sinus carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000383 MONDO:0005165 True benign reproductive system neoplasm benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0000381 MONDO:0005221 True infiltrating renal pelvis transitional cell carcinoma renal pelvis urothelial carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000382 MONDO:0005087 True respiratory system benign neoplasm respiratory system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000382 MONDO:0005165 True respiratory system benign neoplasm benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000383 MONDO:0005165 True benign reproductive system neoplasm benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0000383 MONDO:0006054 True benign reproductive system neoplasm reproductive system neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000384 MONDO:0004180 True bladder benign neoplasm benign urinary system neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0000384 MONDO:0004180 True bladder benign neoplasm benign urinary system neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0000384 MONDO:0004987 True bladder benign neoplasm urinary bladder neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000385 MONDO:0004335 True benign digestive system neoplasm digestive system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0000385 MONDO:0005165 True benign digestive system neoplasm benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0000385 MONDO:0004335 True benign digestive system neoplasm digestive system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000385 MONDO:0005165 True benign digestive system neoplasm benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0000385 MONDO:0021223 True benign digestive system neoplasm digestive system neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0000386 MONDO:0024503 True digestive system neuroendocrine tumor, grade 1/2 digestive system neuroendocrine neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000390 MONDO:0020242 True vitelliform macular dystrophy hereditary macular dystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000396 MONDO:0006497 True spastic cerebral palsy cerebral palsy UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0000397 MONDO:0006497 True ataxic cerebral palsy cerebral palsy UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0000400 MONDO:0006497 True mixed cerebral palsy cerebral palsy UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0000387 MONDO:0001245 True hypochromic microcytic anemia microcytic anemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000389 MONDO:0005516 True atelosteogenesis osteochondrodysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000390 MONDO:0003004 True vitelliform macular dystrophy macular degeneration UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000393 MONDO:0000408 True partial fetal alcohol syndrome fetal alcohol spectrum disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000395 MONDO:0000408 True alcohol-related birth defect fetal alcohol spectrum disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000396 MONDO:0006497 True spastic cerebral palsy cerebral palsy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000397 MONDO:0006497 True ataxic cerebral palsy cerebral palsy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000400 MONDO:0006497 True mixed cerebral palsy cerebral palsy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0000402 MONDO:0002120 True small cell carcinoma neuroendocrine carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0000409 MONDO:0021166 True chorioamnionitis inflammatory disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000410 MONDO:0024575 True funisitis pregnancy disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000425 MONDO:0003847 True X-linked disease hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0000405 MONDO:0005814 True anal canal cancer intestinal cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000407 MONDO:0006294 True malignant pleural solitary fibrous tumor pleural cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000408 MONDO:0000592 True fetal alcohol spectrum disorder specific developmental disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000411 MONDO:0005027 True electroclinical syndrome epilepsy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000412 MONDO:0000411 True neonatal period electroclinical syndrome electroclinical syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000413 MONDO:0000411 True infancy electroclinical syndrome electroclinical syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000414 MONDO:0000411 True childhood electroclinical syndrome electroclinical syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000415 MONDO:0000411 True adolescence-adult electroclinical syndrome electroclinical syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000417 MONDO:0000414 True early onset absence epilepsy childhood electroclinical syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000417 MONDO:0850093 True early onset absence epilepsy absence epilepsy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000424 MONDO:0005528 True inborn vitamin B12 deficiency inborn vitamin metabolic disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000425 MONDO:0003847 True X-linked disease hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000426 MONDO:0000429 True autosomal dominant disease autosomal genetic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000428 MONDO:0003847 True Y-linked disease hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000429 MONDO:0003847 True autosomal genetic disease hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0000430 MONDO:0005169 True mature T-cell and NK-cell non-Hodgkin lymphoma neoplasm of mature T-cells or NK-cells UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000430 MONDO:0015760 True mature T-cell and NK-cell non-Hodgkin lymphoma T-cell non-Hodgkin lymphoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0000430 MONDO:0015760 True mature T-cell and NK-cell non-Hodgkin lymphoma T-cell non-Hodgkin lymphoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0000432 MONDO:0004095 True lymphoplasmacytic lymphoma B-cell neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000437 MONDO:0005395 True cerebellar ataxia movement disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0000447 MONDO:0005154 True autosomal dominant polycystic liver disease liver disorder UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0000437 MONDO:0002427 True cerebellar ataxia cerebellar disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000446 MONDO:0005516 True midface dysplasia osteochondrodysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000447 MONDO:0000426 True autosomal dominant polycystic liver disease autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000447 MONDO:0005154 True autosomal dominant polycystic liver disease liver disorder UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0000448 MONDO:0002366 True paraganglioma autonomic nervous system neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0000448 MONDO:0003847 True paraganglioma hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0000448 MONDO:0019496 True paraganglioma neuroendocrine neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0000457 MONDO:0018177 True classical glioblastoma glioblastoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0000458 MONDO:0018177 True proneural glioblastoma glioblastoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0000459 MONDO:0018177 True mesenchymal glioblastoma glioblastoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0000460 MONDO:0018177 True neural glioblastoma glioblastoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0000466 MONDO:0007263 True first-degree atrioventricular block cardiac rhythm disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000467 MONDO:0007263 True second-degree atrioventricular block cardiac rhythm disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000468 MONDO:0007263 True third-degree atrioventricular block cardiac rhythm disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000471 MONDO:0002869 True tricuspid valve disorder heart valve disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0000473 MONDO:0005385 True arterial disorder vascular disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0000496 MONDO:0006032 True hemorrhagic cystitis cystitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0000497 MONDO:0021166 True pyometritis inflammatory disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000500 MONDO:0004631 True tongue squamous cell carcinoma tongue cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0000453 MONDO:0000992 True short QT syndrome heart conduction disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000456 MONDO:0004736 True cerebral creatine deficiency syndrome inborn disorder of amino acid metabolism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000456 MONDO:0019243 True cerebral creatine deficiency syndrome inborn disorder of energy metabolism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0000457 MONDO:0018177 True classical glioblastoma glioblastoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000458 MONDO:0018177 True proneural glioblastoma glioblastoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000459 MONDO:0018177 True mesenchymal glioblastoma glioblastoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000460 MONDO:0018177 True neural glioblastoma glioblastoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000463 MONDO:0006025 True Ochoa syndrome autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000465 MONDO:0000992 True atrioventricular block heart conduction disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000466 MONDO:0000465 True first-degree atrioventricular block atrioventricular block UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000467 MONDO:0000465 True second-degree atrioventricular block atrioventricular block UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000468 MONDO:0000465 True third-degree atrioventricular block atrioventricular block UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000469 MONDO:0000992 True sinoatrial node disorder heart conduction disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000470 MONDO:0005267 True endocardium disorder heart disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000471 MONDO:0002869 True tricuspid valve disorder heart valve disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000473 MONDO:0005385 True arterial disorder vascular disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000476 MONDO:0015494 True generalized dystonia isolated dystonia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0000477 MONDO:0003441 True focal dystonia dystonic disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000478 MONDO:0003441 True multifocal dystonia dystonic disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000479 MONDO:0003441 True segmental dystonia dystonic disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000480 MONDO:0000477 True anismus focal dystonia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000481 MONDO:0000477 True cervical dystonia focal dystonia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000482 MONDO:0000477 True focal hand dystonia focal dystonia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000483 MONDO:0000477 True oculogyric crisis focal dystonia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000485 MONDO:0000477 True spasmodic dystonia focal dystonia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000486 MONDO:0000477 True craniofacial dystonia focal dystonia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000487 MONDO:0000478 True hemidystonia multifocal dystonia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000489 MONDO:0005560 True diabetic encephalopathy brain disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000491 MONDO:0005053 True limb ischemia ischemic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000492 MONDO:0000945 True chronic venous insufficiency venous insufficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000495 MONDO:0000592 True oppositional defiant disorder specific developmental disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000496 MONDO:0006032 True hemorrhagic cystitis cystitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000497 MONDO:0002654 True pyometritis uterine disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000498 MONDO:0006649 True arteritic anterior ischemic optic neuropathy anterior ischemic optic neuropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000499 MONDO:0006649 True non-arteritic anterior ischemic optic neuropathy anterior ischemic optic neuropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000500 MONDO:0004631 True tongue squamous cell carcinoma tongue cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0000500 MONDO:0004958 True tongue squamous cell carcinoma oral cavity squamous cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0000502 MONDO:0004972 True villous adenoma adenoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0000502 MONDO:0004972 True villous adenoma adenoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0000503 MONDO:0003218 True lung adenocarcinoma in situ adenocarcinoma in situ UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0000503 MONDO:0004660 True lung adenocarcinoma in situ lung carcinoma in situ UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0000503 MONDO:0005061 True lung adenocarcinoma in situ lung adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0000521 MONDO:0004669 True salivary gland carcinoma salivary gland cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0000525 MONDO:0005694 True cecum villous adenoma cecal neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0000507 MONDO:0002254 True inclusion body myopathy with Paget disease of bone and frontotemporal dementia syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000507 MONDO:0016112 True inclusion body myopathy with Paget disease of bone and frontotemporal dementia hereditary inclusion-body myopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0000508 MONDO:0001071 True syndromic intellectual disability intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000509 MONDO:0001071 True non-syndromic intellectual disability intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000513 MONDO:0000631 True bone ameloblastoma bone benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000514 MONDO:0002415 True bone squamous cell carcinoma bone carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000514 MONDO:0005096 True bone squamous cell carcinoma squamous cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000515 MONDO:0002129 True bone chondrosarcoma bone cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000515 MONDO:0008977 True bone chondrosarcoma chondrosarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000516 MONDO:0000631 True phalanx chondroma bone benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000516 MONDO:0002360 True phalanx chondroma chondroma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000517 MONDO:0007959 True brain stem medulloblastoma medulloblastoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000518 MONDO:0000812 True sacrum chordoma vertebral column disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000518 MONDO:0002894 True sacrum chordoma spinal chordoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000519 MONDO:0002544 True corpus callosum oligodendroglioma brain oligodendroglioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000520 MONDO:0001952 True parietal lobe ependymal tumor parietal lobe cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000521 MONDO:0004669 True salivary gland carcinoma salivary gland cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000524 MONDO:0015864 True mixed extragonadal germ cell cancer mixed germ cell tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000525 MONDO:0005694 True cecum villous adenoma cecal neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0000525 MONDO:0021271 True cecum villous adenoma villous adenoma of colon UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0000527 MONDO:0005484 True colon adenoma colorectal adenoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0000530 MONDO:0005484 True rectum adenoma colorectal adenoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0000536 MONDO:0005517 True pharyngeal squamous cell carcinoma pharynx cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0000532 MONDO:0003438 True lung combined type small cell adenocarcinoma combined small cell lung carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000534 MONDO:0003036 True trachea mucoepidermoid carcinoma mucoepidermoid carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000536 MONDO:0005517 True pharyngeal squamous cell carcinoma pharynx cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0000536 MONDO:0010150 True pharyngeal squamous cell carcinoma head and neck squamous cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0000536 MONDO:0021345 True pharyngeal squamous cell carcinoma carcinoma of pharynx UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0000539 MONDO:0003939 True striated muscle rhabdoid tumor muscle tissue disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000539 MONDO:0005864 True striated muscle rhabdoid tumor muscle cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0000540 MONDO:0002995 True small intestinal neuroendocrine tumor G1 small intestine neuroendocrine tumor, well differentiated, low or intermediate grade UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0000540 MONDO:0021533 True small intestinal neuroendocrine tumor G1 intestinal neuroendocrine tumor G1 UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0000541 MONDO:0003198 True jejunal adenocarcinoma small intestine adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0000541 MONDO:0006815 True jejunal adenocarcinoma jejunal cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0000543 MONDO:0021068 True ovarian melanoma ovarian neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0000544 MONDO:0006320 True mucosal melanoma non-cutaneous melanoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000548 MONDO:0018364 True ovarian clear cell cancer malignant epithelial tumor of ovary UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0000548 MONDO:0018364 True ovarian clear cell cancer malignant epithelial tumor of ovary UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0000548 MONDO:0021144 True ovarian clear cell cancer ovarian clear cell tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0000549 MONDO:0002749 True cervical neuroblastoma extracranial neuroblastoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0000550 MONDO:0021072 True extra-adrenal sympathetic paraganglioma sympathetic paraganglioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0000552 MONDO:0004988 True breast lobular carcinoma breast adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0000553 MONDO:0006003 True uterine corpus endometrial carcinoma uterine corpus cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000554 MONDO:0004259 True endocervical adenocarcinoma endocervical carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0000554 MONDO:0005153 True endocervical adenocarcinoma cervical adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0000565 MONDO:0005025 True infective endocarditis endocarditis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0000577 MONDO:0002280 True congenital anemia anemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000577 MONDO:0009332 True congenital anemia congenital hematological disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000595 MONDO:0002025 True sexual and gender identity disorders psychiatric disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0000605 MONDO:0005046 True hypersensitivity reaction disease immune system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0000563 MONDO:0020380 True GRID2-related autosomal dominant spinocerebellar ataxia autosomal dominant cerebellar ataxia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000565 MONDO:0005025 True infective endocarditis endocarditis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000565 MONDO:0005550 True infective endocarditis infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000568 MONDO:0002602 True autoimmune disorder of central nervous system central nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000568 MONDO:0002977 True autoimmune disorder of central nervous system autoimmune disorder of the nervous system UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000569 MONDO:0005151 True autoimmune disorder of endocrine system endocrine system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000569 MONDO:0007179 True autoimmune disorder of endocrine system autoimmune disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000572 MONDO:0015974 True recombinase activating gene 1 deficiency severe combined immunodeficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000573 MONDO:0015974 True recombinase activating gene 2 deficiency severe combined immunodeficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000583 MONDO:0002211 True immunoglobulin beta deficiency B cell deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000584 MONDO:0015977 True B cell linker protein deficiency agammaglobulinemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000586 MONDO:0007179 True autoimmune disorder of exocrine system autoimmune disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000587 MONDO:0007179 True autoimmune disease of ear, nose and throat autoimmune disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000588 MONDO:0004335 True autoimmune disorder of gastrointestinal tract digestive system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000588 MONDO:0007179 True autoimmune disorder of gastrointestinal tract autoimmune disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000589 MONDO:0002081 True autoimmune disorder of musculoskeletal system musculoskeletal system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000589 MONDO:0007179 True autoimmune disorder of musculoskeletal system autoimmune disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000590 MONDO:0002977 True autoimmune disorder of peripheral nervous system autoimmune disorder of the nervous system UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000590 MONDO:0003620 True autoimmune disorder of peripheral nervous system peripheral nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000591 MONDO:0004994 True intrinsic cardiomyopathy cardiomyopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000592 MONDO:0005503 True specific developmental disorder developmental disorder of mental health UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000594 MONDO:0005503 True pervasive developmental disorder developmental disorder of mental health UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000595 MONDO:0002025 True sexual and gender identity disorders psychiatric disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000597 MONDO:0002103 True Munchausen by proxy factitious disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000598 MONDO:0004750 True aphasia language disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000599 MONDO:0004681 True writing disorder learning disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000600 MONDO:0012000 True nosophobia specific phobia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000602 MONDO:0007179 True autoimmune disorder of blood autoimmune disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000603 MONDO:0004995 True autoimmune disorder of cardiovascular system cardiovascular disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000603 MONDO:0007179 True autoimmune disorder of cardiovascular system autoimmune disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000605 MONDO:0005046 True hypersensitivity reaction disease immune system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0000607 MONDO:0018898 True primary cutaneous T-cell non-Hodgkin lymphoma primary cutaneous lymphoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0000610 MONDO:0005025 True marantic endocarditis endocarditis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000611 MONDO:0005070 True pre-malignant neoplasm neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000612 MONDO:0000621 True lymphatic system cancer immune system cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000612 MONDO:0005833 True lymphatic system cancer lymphatic system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000620 MONDO:0000634 True breast benign neoplasm thoracic benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0000620 MONDO:0021100 True breast benign neoplasm breast neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000624 MONDO:0000383 True benign female reproductive system neoplasm benign reproductive system neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0000621 MONDO:0004992 True immune system cancer cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000621 MONDO:0005046 True immune system cancer immune system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000624 MONDO:0000383 True benign female reproductive system neoplasm benign reproductive system neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0000624 MONDO:0021148 True benign female reproductive system neoplasm female reproductive system neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000625 MONDO:0000383 True benign male reproductive system neoplasm benign reproductive system neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0000625 MONDO:0003150 True benign male reproductive system neoplasm male reproductive system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0000625 MONDO:0000383 True benign male reproductive system neoplasm benign reproductive system neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000625 MONDO:0003150 True benign male reproductive system neoplasm male reproductive system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0000627 MONDO:0002082 True benign endocrine neoplasm endocrine gland neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000627 MONDO:0005165 True benign endocrine neoplasm benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0000631 MONDO:0000654 True bone benign neoplasm benign connective and soft tissue neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0000627 MONDO:0005165 True benign endocrine neoplasm benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000628 MONDO:0000648 True central nervous system organ benign neoplasm nervous system benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000629 MONDO:0005165 True cardiovascular organ benign neoplasm benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000630 MONDO:0005165 True immune system organ benign neoplasm benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000631 MONDO:0000654 True bone benign neoplasm benign connective and soft tissue neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0000631 MONDO:0019060 True bone benign neoplasm bone neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000632 MONDO:0000624 True uterine benign neoplasm benign female reproductive system neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0000632 MONDO:0000624 True uterine benign neoplasm benign female reproductive system neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0000632 MONDO:0021353 True uterine benign neoplasm tumor of uterus UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000634 MONDO:0005165 True thoracic benign neoplasm benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0000633 MONDO:0000648 True sensory organ benign neoplasm nervous system benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000634 MONDO:0005165 True thoracic benign neoplasm benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0000634 MONDO:0021350 True thoracic benign neoplasm neoplasm of thorax UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000640 MONDO:0002714 True central nervous system primitive neuroectodermal neoplasm central nervous system cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0000643 MONDO:0000624 True vulvar benign neoplasm benign female reproductive system neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0000636 MONDO:0002081 True musculoskeletal system benign neoplasm musculoskeletal system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000636 MONDO:0005165 True musculoskeletal system benign neoplasm benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000637 MONDO:0002081 True musculoskeletal system cancer musculoskeletal system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000637 MONDO:0004992 True musculoskeletal system cancer cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000640 MONDO:0002714 True central nervous system primitive neuroectodermal neoplasm central nervous system cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000642 MONDO:0016642 True brain meningioma meningioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000643 MONDO:0000624 True vulvar benign neoplasm benign female reproductive system neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0000643 MONDO:0021049 True vulvar benign neoplasm vulvar neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000644 MONDO:0000632 True cervical benign neoplasm uterine benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0000644 MONDO:0000632 True cervical benign neoplasm uterine benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0000644 MONDO:0021230 True cervical benign neoplasm uterine cervix neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000645 MONDO:0000624 True fallopian tube benign neoplasm benign female reproductive system neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0000645 MONDO:0000624 True fallopian tube benign neoplasm benign female reproductive system neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0000645 MONDO:0021092 True fallopian tube benign neoplasm fallopian tube neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000646 MONDO:0000624 True ovarian benign neoplasm benign female reproductive system neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0000646 MONDO:0000624 True ovarian benign neoplasm benign female reproductive system neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0000646 MONDO:0021068 True ovarian benign neoplasm ovarian neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000647 MONDO:0000624 True benign vaginal neoplasm benign female reproductive system neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0000647 MONDO:0000624 True benign vaginal neoplasm benign female reproductive system neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0000647 MONDO:0021050 True benign vaginal neoplasm vaginal neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000648 MONDO:0005165 True nervous system benign neoplasm benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0000648 MONDO:0005165 True nervous system benign neoplasm benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0000648 MONDO:0021248 True nervous system benign neoplasm nervous system neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000650 MONDO:0005165 True peritoneal benign neoplasm benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0000649 MONDO:0005872 True sensory system cancer nervous system cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000650 MONDO:0005165 True peritoneal benign neoplasm benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0000650 MONDO:0006901 True peritoneal benign neoplasm peritoneal neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0000652 MONDO:0002051 True integumentary system benign neoplasm integumentary system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000652 MONDO:0005165 True integumentary system benign neoplasm benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000653 MONDO:0002051 True integumentary system cancer integumentary system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000653 MONDO:0004992 True integumentary system cancer cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000654 MONDO:0000636 True benign connective and soft tissue neoplasm musculoskeletal system benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000654 MONDO:0003900 True benign connective and soft tissue neoplasm connective tissue disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0000654 MONDO:0044334 True benign connective and soft tissue neoplasm connective and soft tissue neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000685 MONDO:0021084 True visual agnosia vision disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000702 MONDO:0005292 True microscopic colitis colitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0000703 MONDO:0000702 True collagenous colitis microscopic colitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0000704 MONDO:0000702 True lymphocytic colitis microscopic colitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0000705 MONDO:0005113 True Clostridium difficile colitis bacterial infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0000705 MONDO:0006039 True Clostridium difficile colitis infectious colitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000723 MONDO:0004750 True stutter disorder language disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0000739 MONDO:0006858 True uvulitis mouth disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0000741 MONDO:0002102 True angular cheilitis cheilitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0000743 MONDO:0006858 True oral hairy leukoplakia mouth disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0000744 MONDO:0005227 True lung abscess abscess UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000744 MONDO:0005275 True lung abscess lung disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0000748 MONDO:0021166 True mastoiditis inflammatory disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000751 MONDO:0002256 True cervical polyp cervix disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0000751 MONDO:0004701 True cervical polyp uterine polyp UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0000755 MONDO:0002263 True ectopic pregnancy female reproductive system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0000814 MONDO:0003541 True B-cell adult acute lymphocytic leukemia adult acute lymphoblastic leukemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0000659 MONDO:0019464 True delta-heavy chain disease heavy chain disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000660 MONDO:0005638 True akinetopsia agnosia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000661 MONDO:0005638 True alexithymia agnosia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000662 MONDO:0005638 True amusia agnosia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000663 MONDO:0005638 True anosognosia agnosia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000667 MONDO:0005638 True auditory agnosia agnosia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000668 MONDO:0005638 True autotopagnosia agnosia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000671 MONDO:0005638 True finger agnosia agnosia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000673 MONDO:0005638 True integrative agnosia agnosia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000674 MONDO:0005638 True mirror agnosia agnosia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000675 MONDO:0005638 True pain agnosia agnosia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000676 MONDO:0005638 True phonagnosia agnosia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000677 MONDO:0005638 True semantic agnosia agnosia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000678 MONDO:0005638 True simultanagnosia agnosia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000679 MONDO:0005638 True social emotional agnosia agnosia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000680 MONDO:0005638 True astereognosia agnosia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000681 MONDO:0005638 True tactile agnosia agnosia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000682 MONDO:0005638 True time agnosia agnosia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000683 MONDO:0000685 True topographical agnosia visual agnosia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000685 MONDO:0005638 True visual agnosia agnosia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000686 MONDO:0000685 True alexia without agraphia visual agnosia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000687 MONDO:0005340 True diffuse alopecia areata alopecia areata UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000688 MONDO:0004736 True inborn organic aciduria inborn disorder of amino acid metabolism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000690 MONDO:0003117 True body dysmorphic disorder somatoform disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000693 MONDO:0004985 True bipolar II disorder bipolar disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000694 MONDO:0002050 True seasonal affective disorder depressive disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000698 MONDO:0004736 True gamma-amino butyric acid metabolism disorder inborn disorder of amino acid metabolism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000701 MONDO:0005292 True ischemic colitis colitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000702 MONDO:0005292 True microscopic colitis colitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000703 MONDO:0000702 True collagenous colitis microscopic colitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000704 MONDO:0000702 True lymphocytic colitis microscopic colitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000706 MONDO:0005292 True chemical colitis colitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000707 MONDO:0005292 True diversion colitis colitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000715 MONDO:0001082 True lymph node adenoid cystic carcinoma lymph node cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000716 MONDO:0000599 True agraphia writing disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000723 MONDO:0004730 True stutter disorder speech disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000724 MONDO:0004750 True specific language impairment language disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000726 MONDO:0005392 True idiopathic scoliosis scoliosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000728 MONDO:0005328 True ptosis eye disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000733 MONDO:0000942 True cornea plana corneal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000736 MONDO:0019289 True dyschromatosis universalis hereditaria hyperpigmentation of the skin UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0000739 MONDO:0004867 True uvulitis upper respiratory tract disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000740 MONDO:0004867 True adenoid hypertrophy upper respiratory tract disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000741 MONDO:0002102 True angular cheilitis cheilitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000743 MONDO:0006858 True oral hairy leukoplakia mouth disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000744 MONDO:0005275 True lung abscess lung disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000748 MONDO:0002614 True mastoiditis bone inflammation disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000749 MONDO:0002657 True breast abscess breast disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000750 MONDO:0006999 True dental abscess tooth disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000751 MONDO:0002256 True cervical polyp cervix disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000754 MONDO:0001593 True anal fistula rectal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000755 MONDO:0002263 True ectopic pregnancy female reproductive system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000756 MONDO:0009993 True parameningeal embryonal rhabdomyosarcoma embryonal rhabdomyosarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000758 MONDO:0005664 True bacillary angiomatosis bartonellosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000761 MONDO:0019040 True syndrome caused by partial chromosomal deletion chromosomal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000762 MONDO:0019040 True syndrome caused by partial chromosomal duplication chromosomal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000763 MONDO:0018102 True epithelial and subepithelial corneal dystrophy corneal dystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000764 MONDO:0018102 True epithelial-stromal TGFBI dystrophy corneal dystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000766 MONDO:0018102 True corneal endothelial dystrophy corneal dystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000771 MONDO:0005271 True allergic respiratory disease allergic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000774 MONDO:0000590 True autoimmune neuropathy autoimmune disorder of peripheral nervous system UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000775 MONDO:0005271 True drug allergy allergic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000777 MONDO:0005271 True gastrointestinal allergy allergic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000807 MONDO:0005271 True latex allergy allergic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000809 MONDO:0002610 True purpura fulminans purpura UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000811 MONDO:0001389 True anomalous left coronary artery from the pulmonary artery congenital coronary artery anomaly UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000813 MONDO:0005267 True cardiac tuberculosis heart disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000814 MONDO:0003541 True B-cell adult acute lymphocytic leukemia adult acute lymphoblastic leukemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0000814 MONDO:0020511 True B-cell adult acute lymphocytic leukemia precursor B-cell acute lymphoblastic leukemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0000816 MONDO:0002254 True abdominal obesity-metabolic syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0000820 MONDO:0002320 True cerebral cavernous malformation congenital nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0000831 MONDO:0005385 True thrombotic disease vascular disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0000859 MONDO:0008449 True spina bifida occulta spina bifida UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0000815 MONDO:0000592 True fetal nicotine spectrum disorder specific developmental disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000816 MONDO:0002254 True abdominal obesity-metabolic syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000819 MONDO:0002320 True anencephaly congenital nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000824 MONDO:0001673 True congenital diarrhea diarrheal disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000827 MONDO:0000314 True salmonellosis primary bacterial infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000828 MONDO:0017279 True juvenile-onset Parkinson disease young-onset Parkinson disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000831 MONDO:0005385 True thrombotic disease vascular disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000833 MONDO:0005381 True bone remodeling disease bone disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000836 MONDO:0005381 True disease of bone structure bone disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000837 MONDO:0000833 True bone resorption disease bone remodeling disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000845 MONDO:0000833 True fibrous dysplasia bone remodeling disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000849 MONDO:0002254 True fibrogenesis imperfecta ossium syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000858 MONDO:0003409 True neuronal intestinal dysplasia colonic disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000859 MONDO:0008449 True spina bifida occulta spina bifida UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000863 MONDO:0009637 True myopathy, lactic acidosis, and sideroblastic anemia inborn mitochondrial myopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000863 MONDO:0016387 True myopathy, lactic acidosis, and sideroblastic anemia mitochondrial oxidative phosphorylation disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0000863 MONDO:0020099 True myopathy, lactic acidosis, and sideroblastic anemia inherited sideroblastic anemia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0000866 MONDO:0005336 True hereditary myoglobinuria myopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0000870 MONDO:0004355 True childhood acute lymphoblastic leukemia childhood leukemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0000870 MONDO:0004967 True childhood acute lymphoblastic leukemia acute lymphoblastic leukemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0000871 MONDO:0000870 True T-cell childhood acute lymphocytic leukemia childhood acute lymphoblastic leukemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0000870 MONDO:0004967 True childhood acute lymphoblastic leukemia acute lymphoblastic leukemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000871 MONDO:0000870 True T-cell childhood acute lymphocytic leukemia childhood acute lymphoblastic leukemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0000871 MONDO:0004403 True T-cell childhood acute lymphocytic leukemia childhood precursor T-lymphoblastic lymphoma/leukemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0000871 MONDO:0004963 True T-cell childhood acute lymphocytic leukemia T-cell acute lymphoblastic leukemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000872 MONDO:0000870 True B-cell childhood acute lymphoblastic leukemia childhood acute lymphoblastic leukemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0000872 MONDO:0000621 True B-cell childhood acute lymphoblastic leukemia immune system cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000872 MONDO:0000870 True B-cell childhood acute lymphoblastic leukemia childhood acute lymphoblastic leukemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0000872 MONDO:0020511 True B-cell childhood acute lymphoblastic leukemia precursor B-cell acute lymphoblastic leukemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0000873 MONDO:0003538 True lymphoblastic lymphoma precursor lymphoblastic lymphoma/leukemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0000873 MONDO:0018908 True lymphoblastic lymphoma non-Hodgkin lymphoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0000874 MONDO:0000873 True T-cell childhood lymphoblastic lymphoma lymphoblastic lymphoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0000874 MONDO:0000873 True T-cell childhood lymphoblastic lymphoma lymphoblastic lymphoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0000874 MONDO:0003659 True T-cell childhood lymphoblastic lymphoma pediatric lymphoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0000874 MONDO:0004403 True T-cell childhood lymphoblastic lymphoma childhood precursor T-lymphoblastic lymphoma/leukemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000875 MONDO:0007896 True adult acute monocytic leukemia acute monocytic leukemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0000878 MONDO:0002708 True cytomegalovirus retinitis retinitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0000878 MONDO:0005132 True cytomegalovirus retinitis cytomegalovirus infection UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000888 MONDO:0020579 True gastrointestinal mucositis mucositis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0000875 MONDO:0007896 True adult acute monocytic leukemia acute monocytic leukemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000878 MONDO:0002708 True cytomegalovirus retinitis retinitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000879 MONDO:0002026 True cutaneous candidiasis candidiasis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000884 MONDO:0015688 True myeloid and lymphoid neoplasms associated with FGFR1 abnormalities myeloid/lymphoid neoplasms associated with eosinophilia and abnormality of PDGFRA, PDGFRB, FGFR1 or JAK2 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000888 MONDO:0004335 True gastrointestinal mucositis digestive system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000889 MONDO:0006670 True haemophilus meningitis bacterial meningitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000891 MONDO:0006210 True mixed fibrolamellar hepatocellular carcinoma fibrolamellar hepatocellular carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0000892 MONDO:0002271 True colon medullary carcinoma colon adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0000892 MONDO:0020794 True colon medullary carcinoma colorectal medullary carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000893 MONDO:0004991 True mixed mucinous and nonmucinous bronchioloalveolar adenocarcinoma minimally invasive lung adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0000893 MONDO:0004991 True mixed mucinous and nonmucinous bronchioloalveolar adenocarcinoma minimally invasive lung adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000894 MONDO:0004991 True mucinous bronchioloalveolar adenocarcinoma minimally invasive lung adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000895 MONDO:0004991 True nonmucinous bronchioloalveolar adenocarcinoma minimally invasive lung adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000901 MONDO:0018905 True relapsed/refractory diffuse large B-cell lymphoma diffuse large B-cell lymphoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000903 MONDO:0020065 True myoclonus-dystonia syndrome combined dystonia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0000904 MONDO:0003847 True complex cortical dysplasia with other brain malformations hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000904 MONDO:0005560 True complex cortical dysplasia with other brain malformations brain disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0000908 MONDO:0016342 True arrhythmogenic right ventricular dysplasia 13 familial isolated arrhythmogenic right ventricular dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0000910 MONDO:0019200 True retinitis pigmentosa 6 retinitis pigmentosa UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0000912 MONDO:0019588 True autosomal recessive nonsyndromic hearing loss 5 hearing loss, autosomal recessive UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0000914 MONDO:0007432 True cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1 cerebral arteriopathy with subcortical infarcts and leukoencephalopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0000918 MONDO:0000931 True endometritis endometrial disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0000910 MONDO:0019200 True retinitis pigmentosa 6 retinitis pigmentosa UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0000912 MONDO:0019588 True autosomal recessive nonsyndromic hearing loss 5 hearing loss, autosomal recessive UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0000913 MONDO:0019350 True hereditary spherocytosis type 2 hereditary spherocytosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000914 MONDO:0007432 True cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1 cerebral arteriopathy with subcortical infarcts and leukoencephalopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0000918 MONDO:0000931 True endometritis endometrial disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000919 MONDO:0000920 True ampulla of vater cancer duodenum cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0000919 MONDO:0000921 True ampulla of vater cancer ampulla of vater neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0000920 MONDO:0000956 True duodenum cancer small intestine cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0000920 MONDO:0000956 True duodenum cancer small intestine cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0000920 MONDO:0021375 True duodenum cancer tumor of duodenum UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000922 MONDO:0002263 True pelvic inflammatory disease female reproductive system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0000922 MONDO:0021166 True pelvic inflammatory disease inflammatory disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000923 MONDO:0004849 True interstitial emphysema pulmonary emphysema UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0000922 MONDO:0002263 True pelvic inflammatory disease female reproductive system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000923 MONDO:0004849 True interstitial emphysema pulmonary emphysema UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000924 MONDO:0004849 True compensatory emphysema pulmonary emphysema UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000926 MONDO:0005328 True eye accommodation disease eye disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000927 MONDO:0004944 True asymptomatic neurosyphilis neurosyphilis UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000928 MONDO:0005012 True eyelid melanoma cutaneous melanoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0000928 MONDO:0006325 True eyelid melanoma ocular melanoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0000928 MONDO:0021313 True eyelid melanoma eyelid cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000929 MONDO:0005012 True balloon cell malignant melanoma cutaneous melanoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0000930 MONDO:0005012 True nodular malignant melanoma cutaneous melanoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0000931 MONDO:0002654 True endometrial disorder uterine disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0000929 MONDO:0005012 True balloon cell malignant melanoma cutaneous melanoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000930 MONDO:0005012 True nodular malignant melanoma cutaneous melanoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000931 MONDO:0002654 True endometrial disorder uterine disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0000933 MONDO:0021071 True subglottis neoplasm laryngeal neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000934 MONDO:0001572 True laryngeal leiomyoma leiomyoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0000934 MONDO:0002354 True laryngeal leiomyoma benign laryngeal neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0000934 MONDO:0001572 True laryngeal leiomyoma leiomyoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000934 MONDO:0002354 True laryngeal leiomyoma benign laryngeal neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0000935 MONDO:0001825 True larynx squamous papilloma squamous papilloma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0000935 MONDO:0002354 True larynx squamous papilloma benign laryngeal neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0000935 MONDO:0002354 True larynx squamous papilloma benign laryngeal neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0000938 MONDO:0001572 True gastric leiomyoma leiomyoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0000938 MONDO:0021449 True gastric leiomyoma benign neoplasm of stomach UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000939 MONDO:0005227 True intracranial abscess abscess UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000940 MONDO:0002428 True trypanosomiasis protozoa infectious disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0000942 MONDO:0005328 True corneal disorder eye disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0000951 MONDO:0002586 True thymus lymphoma thymus cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0000940 MONDO:0002428 True trypanosomiasis protozoa infectious disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000942 MONDO:0005328 True corneal disorder eye disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000943 MONDO:0015486 True acute hydrops keratoconus keratoconus UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000944 MONDO:0011057 True cerebral artery occlusion cerebrovascular disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000945 MONDO:0004634 True venous insufficiency vein disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000946 MONDO:0000947 True psychologic vaginismus psychosexual disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000947 MONDO:0000595 True psychosexual disorder sexual and gender identity disorders UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000948 MONDO:0006733 True xerophthalmia dry eye syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000949 MONDO:0006170 True conjunctival degeneration conjunctival disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000951 MONDO:0002586 True thymus lymphoma thymus cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0000951 MONDO:0004021 True thymus lymphoma mediastinal malignant lymphoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0000952 MONDO:0024311 True cancer of long bone of lower limb cancer affecting bone of limb skeleton SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0000953 MONDO:0002129 True cancer of short bone of lower limb bone cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000954 MONDO:0000955 True Meckel diverticulum cancer ileum cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000955 MONDO:0000956 True ileum cancer small intestine cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0000956 MONDO:0004251 True small intestine cancer small intestine neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0000956 MONDO:0005814 True small intestine cancer intestinal cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0000961 MONDO:0005106 True endobronchial lipoma lipoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0000956 MONDO:0005814 True small intestine cancer intestinal cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000957 MONDO:0001854 True lacrimal passage granuloma lacrimal apparatus disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000960 MONDO:0005294 True diabetic peripheral angiopathy peripheral vascular disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000961 MONDO:0000382 True endobronchial lipoma respiratory system benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000961 MONDO:0002807 True endobronchial lipoma bronchial neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000961 MONDO:0005106 True endobronchial lipoma lipoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0000961 MONDO:0044335 True endobronchial lipoma benign soft tissue neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000962 MONDO:0005106 True spindle cell lipoma lipoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0000963 MONDO:0005106 True esophageal lipoma lipoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0000962 MONDO:0005106 True spindle cell lipoma lipoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000963 MONDO:0005106 True esophageal lipoma lipoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0000963 MONDO:0021459 True esophageal lipoma benign neoplasm of esophagus UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000964 MONDO:0005106 True skin lipoma lipoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0000964 MONDO:0005106 True skin lipoma lipoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0000964 MONDO:0021440 True skin lipoma benign neoplasm of skin UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000965 MONDO:0000385 True liver lipoma benign digestive system neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0000965 MONDO:0005106 True liver lipoma lipoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0000965 MONDO:0024477 True liver lipoma liver and intrahepatic bile duct neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0000966 MONDO:0005106 True pleomorphic lipoma lipoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0000967 MONDO:0005106 True conventional lipoma lipoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0000968 MONDO:0002513 True kidney lipoma kidney benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0000968 MONDO:0005106 True kidney lipoma lipoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0000969 MONDO:0005106 True pleural lipoma lipoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0000965 MONDO:0000385 True liver lipoma benign digestive system neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000965 MONDO:0000627 True liver lipoma benign endocrine neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000965 MONDO:0005106 True liver lipoma lipoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000965 MONDO:0024477 True liver lipoma liver and intrahepatic bile duct neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000966 MONDO:0005106 True pleomorphic lipoma lipoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000967 MONDO:0005106 True conventional lipoma lipoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000968 MONDO:0002513 True kidney lipoma kidney benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000968 MONDO:0005106 True kidney lipoma lipoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000969 MONDO:0005106 True pleural lipoma lipoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0000969 MONDO:0021457 True pleural lipoma benign neoplasm of pleura UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000970 MONDO:0000620 True breast lipoma breast benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0000970 MONDO:0005106 True breast lipoma lipoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0000971 MONDO:0005106 True chest wall lipoma lipoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0000970 MONDO:0000620 True breast lipoma breast benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000970 MONDO:0005106 True breast lipoma lipoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000971 MONDO:0005106 True chest wall lipoma lipoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0000971 MONDO:0021529 True chest wall lipoma benign neoplasm of chest wall UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000972 MONDO:0005106 True gallbladder lipoma lipoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0000972 MONDO:0021503 True gallbladder lipoma benign neoplasm of gallbladder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0000973 MONDO:0005106 True external ear lipoma lipoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0000972 MONDO:0005106 True gallbladder lipoma lipoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000972 MONDO:0021503 True gallbladder lipoma benign neoplasm of gallbladder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000973 MONDO:0005106 True external ear lipoma lipoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0000973 MONDO:0021235 True external ear lipoma external ear neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0000973 MONDO:0021474 True external ear lipoma benign neoplasm of ear UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000974 MONDO:0005106 True axillary lipoma lipoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0000974 MONDO:0005106 True axillary lipoma lipoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0000974 MONDO:0036781 True axillary lipoma benign axillary neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000975 MONDO:0000625 True lipoma of spermatic cord benign male reproductive system neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0000975 MONDO:0000976 True lipoma of spermatic cord paratesticular lipoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0000975 MONDO:0000625 True lipoma of spermatic cord benign male reproductive system neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000975 MONDO:0000976 True lipoma of spermatic cord paratesticular lipoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0000975 MONDO:0024582 True lipoma of spermatic cord male reproductive system neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000976 MONDO:0000383 True paratesticular lipoma benign reproductive system neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0000976 MONDO:0005106 True paratesticular lipoma lipoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0000977 MONDO:0005106 True chondroid lipoma lipoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0000976 MONDO:0000383 True paratesticular lipoma benign reproductive system neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000976 MONDO:0005106 True paratesticular lipoma lipoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000977 MONDO:0005106 True chondroid lipoma lipoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0000978 MONDO:0021385 True extrahepatic bile duct lipoma extrahepatic bile duct neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000979 MONDO:0007000 True pinta disease Treponema infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000984 MONDO:0019050 True thalassemia inherited hemoglobinopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0000986 MONDO:0002037 True pleurisy pleural disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0000987 MONDO:0005281 True cholesterolosis of gallbladder gallbladder disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0000993 MONDO:0005096 True prostate squamous cell carcinoma squamous cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0000993 MONDO:0005159 True prostate squamous cell carcinoma prostate carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0000994 MONDO:0008315 True malignant prostate phyllodes tumor prostate cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0000979 MONDO:0000314 True pinta disease primary bacterial infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000980 MONDO:0005311 True aortic atherosclerosis atherosclerosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000981 MONDO:0005904 True Histoplasma pericarditis pericarditis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000983 MONDO:0000596 True exhibitionism paraphilic disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000986 MONDO:0002037 True pleurisy pleural disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000987 MONDO:0005281 True cholesterolosis of gallbladder gallbladder disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000988 MONDO:0002409 True discharging ear auditory system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000990 MONDO:0004781 True acute subendocardial myocardial infarction acute myocardial infarction UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000992 MONDO:0005267 True heart conduction disease heart disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000993 MONDO:0005096 True prostate squamous cell carcinoma squamous cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000993 MONDO:0005159 True prostate squamous cell carcinoma prostate carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000994 MONDO:0008315 True malignant prostate phyllodes tumor prostate cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0000994 MONDO:0021102 True malignant prostate phyllodes tumor prostate phyllodes tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0000994 MONDO:0037003 True malignant prostate phyllodes tumor malignant phyllodes tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000996 MONDO:0005062 True prostate lymphoma lymphoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0000996 MONDO:0008315 True prostate lymphoma prostate cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001000 MONDO:0015926 True mixed mineral dust pneumoconiosis pneumoconiosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001001 MONDO:0015926 True baritosis pneumoconiosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001003 MONDO:0015926 True pneumoconiosis due to talc pneumoconiosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001004 MONDO:0015926 True slate pneumoconiosis pneumoconiosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001014 MONDO:0005059 True chronic leukemia leukemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0000995 MONDO:0004689 True familial periodic paralysis inborn metal metabolism disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000996 MONDO:0005062 True prostate lymphoma lymphoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000996 MONDO:0008315 True prostate lymphoma prostate cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000997 MONDO:0004896 True monocular esotropia esotropia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001000 MONDO:0015926 True mixed mineral dust pneumoconiosis pneumoconiosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001001 MONDO:0015926 True baritosis pneumoconiosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001003 MONDO:0015926 True pneumoconiosis due to talc pneumoconiosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001004 MONDO:0015926 True slate pneumoconiosis pneumoconiosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001006 MONDO:0003608 True glaucomatous atrophy of optic disk optic atrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001008 MONDO:0003382 True blepharophimosis eyelid disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001009 MONDO:0001011 True solitary cyst of breast breast cyst UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001011 MONDO:0000620 True breast cyst breast benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001014 MONDO:0005059 True chronic leukemia leukemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001015 MONDO:0001007 True eosinophilic meningitis chronic meningitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0001016 MONDO:0003283 True epididymis cancer epididymal neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001016 MONDO:0005836 True epididymis cancer male reproductive organ cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001017 MONDO:0001016 True epididymal adenocarcinoma epididymis cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001017 MONDO:0004970 True epididymal adenocarcinoma adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001020 MONDO:0021084 True amblyopia vision disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0001016 MONDO:0005836 True epididymis cancer male reproductive organ cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001017 MONDO:0001016 True epididymal adenocarcinoma epididymis cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001017 MONDO:0004970 True epididymal adenocarcinoma adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001019 MONDO:0001020 True suppression amblyopia amblyopia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001021 MONDO:0001020 True ametropic amblyopia amblyopia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001022 MONDO:0001020 True disuse amblyopia amblyopia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0001023 MONDO:0001014 True prolymphocytic leukemia chronic leukemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001024 MONDO:0019095 True pneumonic plague plague SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001028 MONDO:0005076 True acute pericementitis periodontitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001040 MONDO:0004821 True nasopharyngitis nasopharyngeal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001044 MONDO:0003749 True esophageal atresia esophageal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001045 MONDO:0005020 True intestinal atresia intestinal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001046 MONDO:0002519 True imperforate anus anus disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001050 MONDO:0004795 True malignant otitis externa otitis externa SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001056 MONDO:0002516 True gastric cancer digestive system cancer SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001024 MONDO:0005275 True pneumonic plague lung disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001024 MONDO:0019095 True pneumonic plague plague SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001025 MONDO:0001027 True seminal vesicle chronic gonorrhea gonococcal seminal vesiculitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001027 MONDO:0004277 True gonococcal seminal vesiculitis gonorrhea UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001027 MONDO:0004767 True gonococcal seminal vesiculitis vesiculitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001028 MONDO:0005076 True acute pericementitis periodontitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001029 MONDO:0002081 True Klippel-Feil syndrome musculoskeletal system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001030 MONDO:0015486 True keratoconus, stable condition keratoconus UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001031 MONDO:0005975 True purulent acute otitis media suppurative otitis media UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001032 MONDO:0004577 True Mooren ulcer corneal ulcer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001033 MONDO:0004577 True mycotic corneal ulcer corneal ulcer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001034 MONDO:0004577 True marginal corneal ulcer corneal ulcer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001035 MONDO:0001036 True hypopyon ulcer hypopyon UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001037 MONDO:0004577 True ring corneal ulcer corneal ulcer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001038 MONDO:0004577 True perforated corneal ulcer corneal ulcer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001039 MONDO:0004867 True tonsillitis upper respiratory tract disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001040 MONDO:0004821 True nasopharyngitis nasopharyngeal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001041 MONDO:0005276 True dentin caries dental caries UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001042 MONDO:0004857 True patellar tendinitis tendinitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001044 MONDO:0003749 True esophageal atresia esophageal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001045 MONDO:0005020 True intestinal atresia intestinal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001046 MONDO:0002519 True imperforate anus anus disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001048 MONDO:0001849 True orbital granuloma chronic orbital inflammation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001049 MONDO:0005904 True Dressler syndrome pericarditis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001050 MONDO:0004795 True malignant otitis externa otitis externa SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001051 MONDO:0004795 True acute otitis externa otitis externa UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001052 MONDO:0000262 True chronic fungal otitis externa otomycosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001054 MONDO:0005085 True double pterygium pterygium UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001055 MONDO:0005085 True conjunctival pterygium pterygium UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001056 MONDO:0002516 True gastric cancer digestive system cancer SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0001056 MONDO:0021085 True gastric cancer gastric neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001057 MONDO:0001056 True malignant gastric granular cell tumor gastric cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001057 MONDO:0001056 True malignant gastric granular cell tumor gastric cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0001057 MONDO:0003252 True malignant gastric granular cell tumor granular cell cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001059 MONDO:0001056 True gastric lymphoma gastric cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001059 MONDO:0001056 True gastric lymphoma gastric cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0001059 MONDO:0004699 True gastric lymphoma gastrointestinal lymphoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001060 MONDO:0005036 True microinvasive gastric cancer gastric adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001066 MONDO:0006019 True late yaws yaws SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001067 MONDO:0006019 True early yaws yaws UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001068 MONDO:0800486 True osteomalacia metabolic bone disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001074 MONDO:0005395 True chronic tic disorder movement disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001076 MONDO:0002908 True glucose intolerance glucose metabolism disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001078 MONDO:0020598 True tropical sprue malabsorption syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001081 MONDO:0002345 True acute cervicitis cervicitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001060 MONDO:0005036 True microinvasive gastric cancer gastric adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001061 MONDO:0001056 True pylorus cancer gastric cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001062 MONDO:0001061 True pyloric antrum cancer pylorus cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001063 MONDO:0001056 True cardia cancer gastric cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001064 MONDO:0002172 True acute eustachian salpingitis otosalpingitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001066 MONDO:0006019 True late yaws yaws SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001067 MONDO:0006019 True early yaws yaws UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001068 MONDO:0000833 True osteomalacia bone remodeling disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001071 MONDO:0005503 True intellectual disability developmental disorder of mental health UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001072 MONDO:0005081 True mild pre-eclampsia preeclampsia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001073 MONDO:0001824 True idiopathic progressive polyneuropathy polyneuropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001074 MONDO:0002420 True chronic tic disorder tic disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001076 MONDO:0002908 True glucose intolerance glucose metabolism disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001079 MONDO:0002356 True pancreatic steatorrhea pancreas disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001080 MONDO:0001081 True acute gonococcal cervicitis acute cervicitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001081 MONDO:0002345 True acute cervicitis cervicitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001082 MONDO:0000612 True lymph node cancer lymphatic system cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0001082 MONDO:0024339 True lymph node cancer lymph node neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001083 MONDO:0002254 True Fanconi renotubular syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001085 MONDO:0001166 True interstitial nephritis nephritis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001087 MONDO:0002028 True schizotypal personality disorder personality disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001083 MONDO:0006510 True Fanconi renotubular syndrome renal tubular transport disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001084 MONDO:0003608 True primary optic atrophy optic atrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001085 MONDO:0001166 True interstitial nephritis nephritis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001086 MONDO:0003608 True partial optic atrophy optic atrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001087 MONDO:0002028 True schizotypal personality disorder personality disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001088 MONDO:0004781 True acute inferoposterior infarction acute myocardial infarction UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001089 MONDO:0004781 True acute inferolateral myocardial infarction acute myocardial infarction UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001090 MONDO:0004781 True acute anterolateral myocardial infarction acute myocardial infarction UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0001091 MONDO:0002278 True lipoma of colon benign colon neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001091 MONDO:0003885 True lipoma of colon colorectal lipoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001091 MONDO:0003885 True lipoma of colon colorectal lipoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0001092 MONDO:0002278 True colon leiomyoma benign colon neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0001092 MONDO:0003299 True colon leiomyoma colorectal leiomyoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001093 MONDO:0002013 True colonic lymphangioma lymphangioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001093 MONDO:0002278 True colonic lymphangioma benign colon neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001095 MONDO:0003098 True mediastinum neuroblastoma mediastinal neural neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001093 MONDO:0002013 True colonic lymphangioma lymphangioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001093 MONDO:0002278 True colonic lymphangioma benign colon neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001094 MONDO:0005338 True residual stage of open angle glaucoma open-angle glaucoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001095 MONDO:0003098 True mediastinum neuroblastoma mediastinal neural neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0001095 MONDO:0005072 True mediastinum neuroblastoma neuroblastoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001095 MONDO:0005843 True mediastinum neuroblastoma mediastinal cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001095 MONDO:0005843 True mediastinum neuroblastoma mediastinal cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0001095 MONDO:0021089 True mediastinum neuroblastoma peripheral nervous system cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0001096 MONDO:0003327 True mediastinum ganglioneuroblastoma peripheral ganglioneuroblastoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001100 MONDO:0002657 True hypertrophy of breast breast disorder SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001101 MONDO:0002657 True fat necrosis of breast breast disorder SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001106 MONDO:0005240 True kidney failure kidney disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001110 MONDO:0006939 True chronic pyelonephritis pyelonephritis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001112 MONDO:0019095 True bubonic plague plague SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001113 MONDO:0004496 True Fiedler's myocarditis myocarditis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001114 MONDO:0004496 True bacterial myocarditis myocarditis SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001115 MONDO:0005571 True familial polycythemia polycythemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001116 MONDO:0002052 True mesenteric lymphadenitis lymphadenitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001119 MONDO:0001889 True premature menopause ovarian dysfunction UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001120 MONDO:0001121 True chronic frontal sinusitis frontal sinusitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001120 MONDO:0006031 True chronic frontal sinusitis chronic rhinosinusitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001121 MONDO:0005961 True frontal sinusitis sinusitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001122 MONDO:0005842 True chronic maxillary sinusitis maxillary sinusitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001122 MONDO:0006031 True chronic maxillary sinusitis chronic rhinosinusitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001123 MONDO:0005964 True chronic sphenoidal sinusitis sphenoid sinusitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001123 MONDO:0006031 True chronic sphenoidal sinusitis chronic rhinosinusitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001126 MONDO:0004247 True gastric ulcer peptic ulcer disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001126 MONDO:0004298 True gastric ulcer stomach disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001098 MONDO:0005618 True separation anxiety disorder anxiety disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001099 MONDO:0001011 True lactocele breast cyst UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001100 MONDO:0002657 True hypertrophy of breast breast disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001101 MONDO:0002657 True fat necrosis of breast breast disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001103 MONDO:0002428 True giardiasis protozoa infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001104 MONDO:0004425 True toxic diffuse goiter hyperthyroidism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001105 MONDO:0001200 True renal hypertension secondary hypertension UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001105 MONDO:0005240 True renal hypertension kidney disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001106 MONDO:0005240 True kidney failure kidney disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001108 MONDO:0001351 True broad ligament malignant neoplasm uterine adnexa cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001109 MONDO:0005246 True petrositis osteomyelitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001110 MONDO:0006939 True chronic pyelonephritis pyelonephritis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001112 MONDO:0005833 True bubonic plague lymphatic system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001112 MONDO:0019095 True bubonic plague plague SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001113 MONDO:0004496 True Fiedler's myocarditis myocarditis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001114 MONDO:0004496 True bacterial myocarditis myocarditis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001115 MONDO:0005571 True familial polycythemia polycythemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001116 MONDO:0002052 True mesenteric lymphadenitis lymphadenitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001118 MONDO:0001195 True Queensland tick typhus spotted fever UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001119 MONDO:0001889 True premature menopause ovarian dysfunction UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001120 MONDO:0001121 True chronic frontal sinusitis frontal sinusitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001121 MONDO:0005961 True frontal sinusitis sinusitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001122 MONDO:0005842 True chronic maxillary sinusitis maxillary sinusitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001123 MONDO:0005964 True chronic sphenoidal sinusitis sphenoid sinusitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001126 MONDO:0004247 True gastric ulcer peptic ulcer disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001127 MONDO:0004857 True tibialis tendinitis tendinitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001128 MONDO:0000376 True nasal cavity cancer respiratory system cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0001128 MONDO:0004756 True nasal cavity cancer nasal cavity neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0001128 MONDO:0005627 True nasal cavity cancer head and neck cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001129 MONDO:0001128 True nasal cavity olfactory neuroblastoma nasal cavity cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001129 MONDO:0006329 True nasal cavity olfactory neuroblastoma olfactory neuroblastoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001130 MONDO:0001128 True nasal cavity lymphoma nasal cavity cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001130 MONDO:0005062 True nasal cavity lymphoma lymphoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001132 MONDO:0000595 True sexual sadism disorder sexual and gender identity disorders UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001139 MONDO:0000595 True sexual masochism disorder sexual and gender identity disorders UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001147 MONDO:0002320 True meningocele congenital nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001149 MONDO:0700092 True microcephaly neurodevelopmental disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001150 MONDO:0005560 True hydrocephalus brain disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001156 MONDO:0002028 True borderline personality disorder personality disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001157 MONDO:0002028 True dependent personality disorder personality disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001158 MONDO:0002028 True obsessive-compulsive personality disorder personality disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001159 MONDO:0001160 True multiple personality disorder dissociative disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001160 MONDO:0002025 True dissociative disorder psychiatric disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001161 MONDO:0002028 True schizoid personality disorder personality disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001162 MONDO:0002025 True impulse control disorder psychiatric disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001163 MONDO:0002028 True paranoid personality disorder personality disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001164 MONDO:0002028 True antisocial personality disorder personality disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001165 MONDO:0006858 True tongue disorder mouth disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001166 MONDO:0005240 True nephritis kidney disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001173 MONDO:0003619 True acute salpingitis salpingitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001174 MONDO:0005552 True conjunctival vascular disorder ocular vascular disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001174 MONDO:0006170 True conjunctival vascular disorder conjunctival disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001176 MONDO:0005328 True lens disorder eye disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001180 MONDO:0002261 True bullous keratopathy keratopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001185 MONDO:0001160 True dissociative amnesia dissociative disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001186 MONDO:0001160 True depersonalization disorder dissociative disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001129 MONDO:0001128 True nasal cavity olfactory neuroblastoma nasal cavity cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001129 MONDO:0006329 True nasal cavity olfactory neuroblastoma olfactory neuroblastoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001130 MONDO:0001128 True nasal cavity lymphoma nasal cavity cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001130 MONDO:0005062 True nasal cavity lymphoma lymphoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001132 MONDO:0000595 True sexual sadism disorder sexual and gender identity disorders UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001133 MONDO:0001134 True malignant essential hypertension essential hypertension UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001134 MONDO:0005044 True essential hypertension hypertensive disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001135 MONDO:0000596 True voyeurism paraphilic disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001138 MONDO:0002322 True angiodysplasia of intestine angiodysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001138 MONDO:0005020 True angiodysplasia of intestine intestinal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001139 MONDO:0000595 True sexual masochism disorder sexual and gender identity disorders UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001141 MONDO:0005441 True middle ear cholesterol granuloma otitis media UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001142 MONDO:0006858 True salivary gland disorder mouth disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001143 MONDO:0003432 True paralytic strabismus strabismus UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001148 MONDO:0002800 True iliac vein thrombophlebitis thrombophlebitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001150 MONDO:0005560 True hydrocephalus brain disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001151 MONDO:0001134 True benign essential hypertension essential hypertension UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001152 MONDO:0002039 True amnestic disorder cognitive disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001154 MONDO:0001195 True Siberian tick typhus spotted fever UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001155 MONDO:0004247 True gastrojejunal ulcer peptic ulcer disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001156 MONDO:0002028 True borderline personality disorder personality disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001157 MONDO:0002028 True dependent personality disorder personality disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001158 MONDO:0002028 True obsessive-compulsive personality disorder personality disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001159 MONDO:0001160 True multiple personality disorder dissociative disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001160 MONDO:0002025 True dissociative disorder psychiatric disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001161 MONDO:0002028 True schizoid personality disorder personality disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001162 MONDO:0002025 True impulse control disorder psychiatric disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001163 MONDO:0002028 True paranoid personality disorder personality disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001164 MONDO:0002028 True antisocial personality disorder personality disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001165 MONDO:0006858 True tongue disorder mouth disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001166 MONDO:0005240 True nephritis kidney disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001167 MONDO:0000396 True spastic diplegia spastic cerebral palsy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001168 MONDO:0000396 True spastic hemiplegia spastic cerebral palsy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001169 MONDO:0000396 True spastic monoplegia spastic cerebral palsy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001171 MONDO:0001172 True acute salpingo-oophoritis salpingo-oophoritis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001172 MONDO:0006877 True salpingo-oophoritis oophoritis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001173 MONDO:0003619 True acute salpingitis salpingitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001174 MONDO:0006170 True conjunctival vascular disorder conjunctival disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001175 MONDO:0005129 True immature cataract cataract UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001176 MONDO:0005328 True lens disorder eye disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001177 MONDO:0002519 True anorectal stricture anus disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001178 MONDO:0000942 True pseudopterygium corneal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001179 MONDO:0000949 True pinguecula conjunctival degeneration UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001180 MONDO:0006712 True bullous keratopathy corneal edema UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001181 MONDO:0006712 True secondary corneal edema corneal edema UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001182 MONDO:0006712 True idiopathic corneal edema corneal edema UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001183 MONDO:0006712 True contact lens corneal edema corneal edema UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001185 MONDO:0001160 True dissociative amnesia dissociative disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001186 MONDO:0001160 True depersonalization disorder dissociative disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0001187 MONDO:0004987 True urinary bladder cancer urinary bladder neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001187 MONDO:0006295 True urinary bladder cancer malignant urinary system neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001187 MONDO:0006295 True urinary bladder cancer malignant urinary system neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0001188 MONDO:0004699 True esophagus lymphoma gastrointestinal lymphoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001188 MONDO:0007576 True esophagus lymphoma esophageal cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001192 MONDO:0007576 True esophageal melanoma esophageal cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001188 MONDO:0007576 True esophagus lymphoma esophageal cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001190 MONDO:0005683 True Brucella suis brucellosis brucellosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001191 MONDO:0005550 True hirudiniasis infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001192 MONDO:0007576 True esophageal melanoma esophageal cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0001192 MONDO:0045070 True esophageal melanoma digestive system melanoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001204 MONDO:0007576 True esophagus sarcoma esophageal cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001196 MONDO:0000947 True psychologic dyspareunia psychosexual disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001198 MONDO:0002049 True acquired thrombocytopenia thrombocytopenia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001199 MONDO:0002409 True dislocation of ear ossicle auditory system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001200 MONDO:0005044 True secondary hypertension hypertensive disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001202 MONDO:0003105 True prostatic cyst prostate disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001204 MONDO:0007576 True esophagus sarcoma esophageal cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0001204 MONDO:0018078 True esophagus sarcoma soft tissue sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001208 MONDO:0021113 True acute respiratory failure respiratory failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0001205 MONDO:0005041 True hypersecretion glaucoma glaucoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001206 MONDO:0005041 True aqueous misdirection glaucoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001209 MONDO:0005108 True common wart viral infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0001209 MONDO:0024666 True common wart benign epithelial skin neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001214 MONDO:0003799 True acute conjunctivitis conjunctivitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001217 MONDO:0006668 True pseudomembranous conjunctivitis bacterial conjunctivitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001220 MONDO:0001223 True hypoparathyroidism parathyroid gland disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001221 MONDO:0003749 True esophageal varices esophageal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001222 MONDO:0003780 True congenital T-cell immunodeficiency T-cell immunodeficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001224 MONDO:0001214 True Angelucci syndrome acute conjunctivitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001224 MONDO:0005642 True Angelucci syndrome atopic conjunctivitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001226 MONDO:0001214 True acute contagious conjunctivitis acute conjunctivitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001234 MONDO:0002409 True adhesive otitis media auditory system disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001210 MONDO:0004751 True enophthalmos disease of orbital part of eye adnexa UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001211 MONDO:0000926 True total internal ophthalmoplegia eye accommodation disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001211 MONDO:0002285 True total internal ophthalmoplegia pupil disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001212 MONDO:0005441 True non-suppurative otitis media otitis media UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001214 MONDO:0003799 True acute conjunctivitis conjunctivitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001215 MONDO:0000308 True allescheriosis primary systemic mycosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001216 MONDO:0003394 True pulp degeneration dental pulp disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001217 MONDO:0001214 True pseudomembranous conjunctivitis acute conjunctivitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001218 MONDO:0004867 True acute laryngopharyngitis upper respiratory tract disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001219 MONDO:0001214 True serous conjunctivitis except viral acute conjunctivitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001220 MONDO:0001223 True hypoparathyroidism parathyroid gland disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001221 MONDO:0003749 True esophageal varices esophageal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001223 MONDO:0005151 True parathyroid gland disorder endocrine system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001224 MONDO:0005642 True Angelucci syndrome atopic conjunctivitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001225 MONDO:0002491 True opioid abuse substance abuse UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001226 MONDO:0001214 True acute contagious conjunctivitis acute conjunctivitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001228 MONDO:0001214 True conjunctival folliculosis acute conjunctivitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001229 MONDO:0004235 True small intestine diverticulitis diverticulitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001230 MONDO:0004751 True acute orbital inflammation disease of orbital part of eye adnexa UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001231 MONDO:0001230 True orbital periostitis acute orbital inflammation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001232 MONDO:0001230 True orbital osteomyelitis acute orbital inflammation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001233 MONDO:0001230 True orbital tenonitis acute orbital inflammation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001234 MONDO:0002409 True adhesive otitis media auditory system disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0001235 MONDO:0001236 True appendix cancer appendiceal neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001237 MONDO:0001235 True appendix lymphoma appendix cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001238 MONDO:0005571 True polycythemia neonatorum polycythemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001242 MONDO:0001243 True disseminated intravascular coagulation in newborn disseminated intravascular coagulation UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001244 MONDO:0024298 True vitamin K deficiency hemorrhagic disease vitamin deficiency disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001245 MONDO:0002280 True microcytic anemia anemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001247 MONDO:0003699 True social phobia phobic disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001252 MONDO:0004425 True Plummer disease hyperthyroidism UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001261 MONDO:0000467 True Mobitz type II atrioventricular block second-degree atrioventricular block UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001269 MONDO:0005328 True scleral disorder eye disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001271 MONDO:0001176 True lens subluxation lens disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001275 MONDO:0001279 True spinal meningioma intraspinal meningioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001237 MONDO:0001235 True appendix lymphoma appendix cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001238 MONDO:0005571 True polycythemia neonatorum polycythemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001239 MONDO:0001240 True anemia of prematurity neonatal anemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001240 MONDO:0002280 True neonatal anemia anemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001241 MONDO:0001475 True transient neonatal neutropenia neutropenia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001242 MONDO:0001243 True disseminated intravascular coagulation in newborn disseminated intravascular coagulation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001243 MONDO:0002305 True disseminated intravascular coagulation thrombophilia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001245 MONDO:0002280 True microcytic anemia anemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001247 MONDO:0003699 True social phobia phobic disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001250 MONDO:0005328 True keratomalacia eye disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001251 MONDO:0004508 True chronic apical periodontitis periapical periodontitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001252 MONDO:0004425 True Plummer disease hyperthyroidism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001255 MONDO:0017853 True ventilation pneumonitis hypersensitivity pneumonitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001256 MONDO:0006500 True arteriovenous hemangioma/malformation hemangioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001257 MONDO:0002311 True retinal microaneurysm retinal vascular disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001258 MONDO:0003718 True vertebral artery occlusion occlusion precerebral artery UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001259 MONDO:0002721 True pituitary gland infarction necrosis of pituitary UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001260 MONDO:0015254 True cercarial dermatitis schistosomiasis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001261 MONDO:0000467 True Mobitz type II atrioventricular block second-degree atrioventricular block UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001263 MONDO:0002708 True histoplasmosis retinitis retinitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001265 MONDO:0005485 True schizophreniform disorder psychotic disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001268 MONDO:0002021 True gingival recession gingival disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001269 MONDO:0005328 True scleral disorder eye disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001270 MONDO:0007197 True stone in bladder diverticulum bladder diverticulum UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001271 MONDO:0001176 True lens subluxation lens disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001272 MONDO:0003409 True functional diarrhea colonic disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001273 MONDO:0003409 True megacolon colonic disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001274 MONDO:0002519 True anal spasm anus disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001275 MONDO:0001279 True spinal meningioma intraspinal meningioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0001275 MONDO:0021234 True spinal meningioma spinal cord neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001276 MONDO:0004750 True expressive language disorder language disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001276 MONDO:0004750 True expressive language disorder language disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001277 MONDO:0011057 True cerebral arteritis cerebrovascular disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0001279 MONDO:0016642 True intraspinal meningioma meningioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001281 MONDO:0001286 True alternating exotropia exotropia SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001282 MONDO:0002156 True fallopian tube endometriosis fallopian tube disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001282 MONDO:0005133 True fallopian tube endometriosis endometriosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001284 MONDO:0005133 True endometriosis of intestine endometriosis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001285 MONDO:0005133 True endometriosis of pelvic peritoneum endometriosis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001286 MONDO:0003432 True exotropia strabismus UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001287 MONDO:0005133 True endometriosis in cutaneous scar endometriosis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001288 MONDO:0005133 True endometriosis of rectovaginal septum and vagina endometriosis SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001290 MONDO:0020576 True allergic cutaneous vasculitis cutaneous vasculitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0001280 MONDO:0001898 True choroiditis optic choroid disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001281 MONDO:0001286 True alternating exotropia exotropia SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001282 MONDO:0002156 True fallopian tube endometriosis fallopian tube disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001282 MONDO:0005133 True fallopian tube endometriosis endometriosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001283 MONDO:0002263 True endosalpingiosis female reproductive system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001284 MONDO:0005020 True endometriosis of intestine intestinal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001284 MONDO:0005133 True endometriosis of intestine endometriosis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001285 MONDO:0005133 True endometriosis of pelvic peritoneum endometriosis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001286 MONDO:0003432 True exotropia strabismus UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001287 MONDO:0005133 True endometriosis in cutaneous scar endometriosis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001288 MONDO:0005133 True endometriosis of rectovaginal septum and vagina endometriosis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001290 MONDO:0006794 True allergic cutaneous vasculitis hypersensitivity vasculitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001291 MONDO:0005560 True brain compression brain disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001292 MONDO:0003620 True autonomic nervous system disorder peripheral nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0001293 MONDO:0000933 True subglottis cancer subglottis neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001293 MONDO:0002352 True subglottis cancer larynx cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001293 MONDO:0002352 True subglottis cancer larynx cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001294 MONDO:0001300 True Horner syndrome autonomic neuropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001295 MONDO:0001292 True idiopathic peripheral autonomic neuropathy autonomic nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0001296 MONDO:0004588 True acquired night blindness night blindness SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001298 MONDO:0003767 True congenital mitral valve insufficiency mitral valve disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001299 MONDO:0001300 True diabetic autonomic neuropathy autonomic neuropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001299 MONDO:0006626 True diabetic autonomic neuropathy diabetic neuropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001300 MONDO:0005244 True autonomic neuropathy peripheral neuropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001302 MONDO:0005267 True hypertensive heart disease heart disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001307 MONDO:0005227 True corneal abscess abscess UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001307 MONDO:0023865 True corneal abscess corneal infection UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0001296 MONDO:0006873 True acquired night blindness nutritional deficiency disease UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001297 MONDO:0001370 True cardiac tamponade pericardial effusion UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001298 MONDO:0003767 True congenital mitral valve insufficiency mitral valve disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001299 MONDO:0001300 True diabetic autonomic neuropathy autonomic neuropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001300 MONDO:0001292 True autonomic neuropathy autonomic nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001300 MONDO:0005244 True autonomic neuropathy peripheral neuropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001301 MONDO:0005451 True rumination disorder eating disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001302 MONDO:0005267 True hypertensive heart disease heart disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001303 MONDO:0002285 True abnormal pupillary function pupil disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001305 MONDO:0004382 True laryngostenosis laryngeal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001307 MONDO:0004903 True corneal abscess deep keratitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001308 MONDO:0000942 True corneal deposit corneal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0001309 MONDO:0002782 True oculomotor nerve paralysis cranial nerve palsy UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001309 MONDO:0003546 True oculomotor nerve paralysis third cranial nerve disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001314 MONDO:0005066 True chondrocalcinosis metabolic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001314 MONDO:0005578 True chondrocalcinosis arthritic joint disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001314 MONDO:0800486 True chondrocalcinosis metabolic bone disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0001309 MONDO:0003546 True oculomotor nerve paralysis third cranial nerve disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001310 MONDO:0000942 True Bowman's membrane folds or rupture corneal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001312 MONDO:0002738 True acute serous otitis media acute transudative otitis media UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001313 MONDO:0001312 True acute allergic serous otitis media acute serous otitis media UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001314 MONDO:0005578 True chondrocalcinosis arthritic joint disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001315 MONDO:0003117 True neurocirculatory asthenia somatoform disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001316 MONDO:0006670 True streptococcal meningitis bacterial meningitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001317 MONDO:0004768 True phlyctenulosis keratoconjunctivitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001318 MONDO:0004298 True functional gastric disease stomach disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001319 MONDO:0001187 True bladder lateral wall cancer urinary bladder cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001320 MONDO:0001269 True ring staphyloma scleral disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001322 MONDO:0001340 True pericardium cancer heart cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0001322 MONDO:0021381 True pericardium cancer neoplasm of pericardium UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001325 MONDO:0005836 True penile cancer male reproductive organ cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001325 MONDO:0005836 True penile cancer male reproductive organ cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0001325 MONDO:0006895 True penile cancer penile neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001327 MONDO:0001592 True pelvic muscle wasting prolapse of female genital organ SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001337 MONDO:0008420 True inflamed seborrheic keratosis seborrheic keratosis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001339 MONDO:0000831 True portal vein thrombosis thrombotic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001340 MONDO:0002100 True heart cancer cardiovascular cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001326 MONDO:0003394 True dental pulp necrosis dental pulp disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001327 MONDO:0001592 True pelvic muscle wasting prolapse of female genital organ SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001329 MONDO:0000926 True accommodative spasm eye accommodation disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001330 MONDO:0000926 True presbyopia eye accommodation disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001331 MONDO:0006170 True conjunctival deposit conjunctival disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001334 MONDO:0003382 True hypertrichosis of eyelid eyelid disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001334 MONDO:0019280 True hypertrichosis of eyelid hypertrichosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001335 MONDO:0003037 True hypotrichosis of eyelid hypotrichosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001335 MONDO:0003382 True hypotrichosis of eyelid eyelid disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001336 MONDO:0002525 True familial hyperlipidemia inherited lipid metabolism disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001337 MONDO:0008420 True inflamed seborrheic keratosis seborrheic keratosis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001338 MONDO:0004508 True acute apical periodontitis periapical periodontitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001339 MONDO:0000831 True portal vein thrombosis thrombotic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001339 MONDO:0002405 True portal vein thrombosis hepatic vascular disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001339 MONDO:0004634 True portal vein thrombosis vein disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001340 MONDO:0002100 True heart cancer cardiovascular cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0001340 MONDO:0003274 True heart cancer thoracic cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0001340 MONDO:0021209 True heart cancer heart neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001357 MONDO:0002280 True hypochromic anemia anemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001369 MONDO:0002647 True chronic laryngitis laryngitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001371 MONDO:0006873 True protein-energy malnutrition nutritional deficiency disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001374 MONDO:0001187 True bladder sarcoma urinary bladder cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001341 MONDO:0001342 True selective IgA deficiency disease dysgammaglobulinemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001342 MONDO:0003739 True dysgammaglobulinemia selective immunoglobulin deficiency disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001345 MONDO:0002491 True antidepressant type abuse substance abuse UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001347 MONDO:0016106 True facioscapulohumeral muscular dystrophy progressive muscular dystrophy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0001349 MONDO:0005276 True odontoclasia dental caries UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001351 MONDO:0002715 True uterine adnexa cancer uterine cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001352 MONDO:0001351 True round ligament malignant neoplasm uterine adnexa cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001355 MONDO:0005328 True ocular siderosis eye disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001356 MONDO:0006873 True iron deficiency anemia nutritional deficiency disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001357 MONDO:0002280 True hypochromic anemia anemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001358 MONDO:0000270 True bronchial disorder lower respiratory tract disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001360 MONDO:0004390 True blind hypotensive eye ocular hypotension UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001361 MONDO:0004843 True spontaneous ocular nystagmus pathologic nystagmus UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001364 MONDO:0011284 True regular astigmatism astigmatism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001366 MONDO:0002332 True splenic sequestration splenic disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001368 MONDO:0001515 True phthisical cornea corneal degeneration UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001369 MONDO:0002647 True chronic laryngitis laryngitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001370 MONDO:0000474 True pericardial effusion pericardium disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001371 MONDO:0006873 True protein-energy malnutrition nutritional deficiency disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001372 MONDO:0001187 True bladder neck cancer urinary bladder cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001373 MONDO:0001187 True urinary bladder posterior wall cancer urinary bladder cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001374 MONDO:0001187 True bladder sarcoma urinary bladder cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0001374 MONDO:0018078 True bladder sarcoma soft tissue sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001381 MONDO:0001187 True bladder lymphoma urinary bladder cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001381 MONDO:0005062 True bladder lymphoma lymphoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001382 MONDO:0002254 True hepatorenal syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001376 MONDO:0001187 True urinary bladder anterior wall cancer urinary bladder cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001377 MONDO:0004860 True vitreous syneresis vitreous disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001378 MONDO:0001187 True urachus cancer urinary bladder cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001380 MONDO:0001187 True bladder dome cancer urinary bladder cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001381 MONDO:0001187 True bladder lymphoma urinary bladder cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001381 MONDO:0005062 True bladder lymphoma lymphoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0001382 MONDO:0005154 True hepatorenal syndrome liver disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001385 MONDO:0001941 True cortical blindness blindness (disorder) UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001386 MONDO:0017768 True visual epilepsy reflex epilepsy UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001387 MONDO:0001325 True penile sarcoma penile cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001383 MONDO:0001384 True degenerative myopia myopia UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001384 MONDO:0004892 True myopia refractive error UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001385 MONDO:0003584 True cortical blindness visual cortex disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001387 MONDO:0001325 True penile sarcoma penile cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0001387 MONDO:0018078 True penile sarcoma soft tissue sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001391 MONDO:0005124 True indeterminate leprosy leprosy SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001396 MONDO:0004588 True abnormal threshold of rods night blindness SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001398 MONDO:0004180 True ureter benign neoplasm benign urinary system neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001388 MONDO:0001325 True glans penis cancer penile cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001389 MONDO:0005010 True congenital coronary artery anomaly coronary artery disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001390 MONDO:0004892 True transient refractive change refractive error UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001391 MONDO:0005124 True indeterminate leprosy leprosy SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001392 MONDO:0001286 True monocular exotropia exotropia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001393 MONDO:0002164 True peripheral focal chorioretinitis focal chorioretinitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001395 MONDO:0003085 True macular keratitis keratitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001396 MONDO:0004588 True abnormal threshold of rods night blindness SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001397 MONDO:0005244 True mononeuropathy peripheral neuropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001398 MONDO:0004180 True ureter benign neoplasm benign urinary system neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0001398 MONDO:0021111 True ureter benign neoplasm ureter neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001399 MONDO:0001398 True ureter leiomyoma ureter benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001399 MONDO:0001572 True ureter leiomyoma leiomyoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001400 MONDO:0001398 True schwannoma of ureter ureter benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001400 MONDO:0004820 True schwannoma of ureter peripheral nerve schwannoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001402 MONDO:0001416 True vaginal cancer female reproductive organ cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001399 MONDO:0001398 True ureter leiomyoma ureter benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001399 MONDO:0001572 True ureter leiomyoma leiomyoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001400 MONDO:0001398 True schwannoma of ureter ureter benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001400 MONDO:0004820 True schwannoma of ureter peripheral nerve schwannoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001401 MONDO:0004379 True female breast nipple and areola cancer female breast carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001402 MONDO:0001416 True vaginal cancer female reproductive organ cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0001402 MONDO:0021050 True vaginal cancer vaginal neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001403 MONDO:0001528 True labium majus cancer vulva cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001405 MONDO:0004678 True dermatophytosis of groin and perianal area dermatophytosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001406 MONDO:0003620 True peripheral nervous system neoplasm peripheral nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001403 MONDO:0001528 True labium majus cancer vulva cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001404 MONDO:0004592 True ecthyma impetigo UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001405 MONDO:0004678 True dermatophytosis of groin and perianal area dermatophytosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001406 MONDO:0003620 True peripheral nervous system neoplasm peripheral nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0001406 MONDO:0021248 True peripheral nervous system neoplasm nervous system neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0001407 MONDO:0000376 True tracheal cancer respiratory system cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0001407 MONDO:0021210 True tracheal cancer trachea neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001408 MONDO:0005244 True ischemic neuropathy peripheral neuropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001409 MONDO:0003749 True esophagitis esophageal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001413 MONDO:0018077 True ulceroglandular tularemia tularemia SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001415 MONDO:0002329 True atrophy of testis testicular disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001416 MONDO:0002149 True female reproductive organ cancer reproductive system cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001408 MONDO:0005244 True ischemic neuropathy peripheral neuropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001409 MONDO:0003749 True esophagitis esophageal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001410 MONDO:0002234 True postmenopausal atrophic vaginitis vaginitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001411 MONDO:0018234 True synostosis dysostosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001412 MONDO:0001331 True conjunctival concretion conjunctival deposit UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001413 MONDO:0018077 True ulceroglandular tularemia tularemia SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001414 MONDO:0002933 True osteopoikilosis osteosclerosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001415 MONDO:0002329 True atrophy of testis testicular disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001416 MONDO:0002149 True female reproductive organ cancer reproductive system cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0001416 MONDO:0021148 True female reproductive organ cancer female reproductive system neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001417 MONDO:0001407 True tracheal lymphoma tracheal cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001417 MONDO:0005062 True tracheal lymphoma lymphoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001418 MONDO:0001407 True trachea sarcoma tracheal cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001417 MONDO:0001407 True tracheal lymphoma tracheal cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001417 MONDO:0005062 True tracheal lymphoma lymphoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001418 MONDO:0001407 True trachea sarcoma tracheal cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0001418 MONDO:0018078 True trachea sarcoma soft tissue sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001419 MONDO:0003184 True trachea squamous cell carcinoma trachea carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001419 MONDO:0005096 True trachea squamous cell carcinoma squamous cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001419 MONDO:0003184 True trachea squamous cell carcinoma trachea carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001419 MONDO:0005096 True trachea squamous cell carcinoma squamous cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0001420 MONDO:0002633 True trigeminal nerve neoplasm cranial nerve neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0001420 MONDO:0003543 True trigeminal nerve neoplasm trigeminal nerve disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0001421 MONDO:0021374 True frontal lobe neoplasm neoplasm of cerebral hemisphere UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001426 MONDO:0003098 True mediastinum neurofibroma mediastinal neural neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001426 MONDO:0016755 True mediastinum neurofibroma neurofibroma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001429 MONDO:0006816 True transient arthropathy arthropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001431 MONDO:0005885 True toxic or nutritional optic neuropathy optic neuritis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001433 MONDO:0002263 True vaginal disorder female reproductive system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001437 MONDO:0005275 True pulmonary alveolar proteinosis lung disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001442 MONDO:0005371 True dysthymic disorder mood disorder SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001451 MONDO:0004580 True peripheral retinal degeneration retinal degeneration UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001461 MONDO:0004678 True tinea corporis dermatophytosis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001422 MONDO:0005495 True primary aldosteronism adrenal gland disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001426 MONDO:0003098 True mediastinum neurofibroma mediastinal neural neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001426 MONDO:0016755 True mediastinum neurofibroma neurofibroma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001427 MONDO:0004298 True Dieulafoy lesion stomach disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001428 MONDO:0004298 True pylorospasm stomach disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001429 MONDO:0006816 True transient arthropathy arthropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001430 MONDO:0006713 True deep corneal vascularisation corneal neovascularization UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001431 MONDO:0005885 True toxic or nutritional optic neuropathy optic neuritis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001433 MONDO:0002263 True vaginal disorder female reproductive system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001434 MONDO:0003937 True inflammatory spondylopathy spondylitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001435 MONDO:0004579 True bullous retinoschisis retinoschisis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001436 MONDO:0002279 True hemosiderosis iron metabolism disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001437 MONDO:0005275 True pulmonary alveolar proteinosis lung disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001438 MONDO:0002771 True postinflammatory pulmonary fibrosis pulmonary fibrosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001439 MONDO:0001269 True episcleritis periodica fugax scleral disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001440 MONDO:0004768 True neurotrophic keratoconjunctivitis keratoconjunctivitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001441 MONDO:0005451 True pica disease eating disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001442 MONDO:0005371 True dysthymic disorder mood disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001443 MONDO:0003648 True tympanosclerosis tympanic membrane disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001444 MONDO:0000940 True Chagas disease trypanosomiasis UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001446 MONDO:0006026 True low compliance bladder urinary bladder disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001447 MONDO:0006026 True detrusor sphincter dyssynergia urinary bladder disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001451 MONDO:0004580 True peripheral retinal degeneration retinal degeneration UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001452 MONDO:0001451 True pseudoretinitis pigmentosa peripheral retinal degeneration UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001453 MONDO:0001451 True senile reticular retinal degeneration peripheral retinal degeneration UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001454 MONDO:0001451 True Blessig's cysts peripheral retinal degeneration UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001455 MONDO:0001451 True retinal lattice degeneration peripheral retinal degeneration UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001456 MONDO:0001451 True cobblestone retinal degeneration peripheral retinal degeneration UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001457 MONDO:0001451 True secondary vitreoretinal degeneration peripheral retinal degeneration UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001459 MONDO:0001397 True radial neuropathy mononeuropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001460 MONDO:0005397 True dyshormonogenic goiter goiter UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001461 MONDO:0004678 True tinea corporis dermatophytosis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001462 MONDO:0021063 True descending colon cancer malignant colon neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001463 MONDO:0001462 True splenic flexure cancer descending colon cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001464 MONDO:0021063 True sigmoid colon cancer malignant colon neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001465 MONDO:0003085 True superficial keratitis keratitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001466 MONDO:0004768 True punctate epithelial keratoconjunctivitis keratoconjunctivitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001468 MONDO:0006816 True synovial plica syndrome arthropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001469 MONDO:0004298 True cascade stomach stomach disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0001470 MONDO:0002529 True anal margin squamous cell carcinoma skin squamous cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001470 MONDO:0002941 True anal margin squamous cell carcinoma anal margin carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001470 MONDO:0002941 True anal margin squamous cell carcinoma anal margin carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0001470 MONDO:0006082 True anal margin squamous cell carcinoma anal squamous cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001472 MONDO:0005447 True testicular lymphoma testicular cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001476 MONDO:0005328 True coloboma eye disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001479 MONDO:0021201 True cutaneous diphtheria skin infection UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0001471 MONDO:0006764 True histoplasmosis meningitis fungal meningitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001472 MONDO:0005447 True testicular lymphoma testicular cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001473 MONDO:0005495 True medulloadrenal hyperfunction adrenal gland disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001474 MONDO:0001172 True chronic salpingo-oophoritis salpingo-oophoritis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001475 MONDO:0001609 True neutropenia agranulocytosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001476 MONDO:0005328 True coloboma eye disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001478 MONDO:0004892 True anisometropia refractive error UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001479 MONDO:0002922 True cutaneous diphtheria pyoderma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001480 MONDO:0005447 True malignant tumor of undescended testis testicular cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001481 MONDO:0002800 True femoral vein thrombophlebitis thrombophlebitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0001482 MONDO:0005059 True testicular leukemia leukemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001482 MONDO:0005447 True testicular leukemia testicular cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001484 MONDO:0005090 True paranoid schizophrenia schizophrenia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001491 MONDO:0004979 True cough variant asthma asthma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001499 MONDO:0005062 True retroperitoneal lymphoma lymphoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001499 MONDO:0005941 True retroperitoneal lymphoma retroperitoneal cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001501 MONDO:0005941 True retroperitoneal sarcoma retroperitoneal cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001482 MONDO:0005447 True testicular leukemia testicular cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001484 MONDO:0005090 True paranoid schizophrenia schizophrenia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001485 MONDO:0005371 True atypical depressive disorder mood disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001488 MONDO:0001308 True anterior corneal pigmentation corneal deposit UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001490 MONDO:0000764 True corneal granular dystrophy epithelial-stromal TGFBI dystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001491 MONDO:0004979 True cough variant asthma asthma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001492 MONDO:0001493 True kyphoscoliotic heart disease chronic pulmonary heart disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001493 MONDO:0004596 True chronic pulmonary heart disease cor pulmonale UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001495 MONDO:0003150 True hematocele of tunica vaginalis testis male reproductive system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001496 MONDO:0003150 True male genital organ stricture male reproductive system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001497 MONDO:0003150 True male genital organ vascular disease male reproductive system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001498 MONDO:0004869 True varicocele pelvic varices UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001499 MONDO:0005062 True retroperitoneal lymphoma lymphoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001499 MONDO:0005941 True retroperitoneal lymphoma retroperitoneal cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001501 MONDO:0005941 True retroperitoneal sarcoma retroperitoneal cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0001501 MONDO:0018078 True retroperitoneal sarcoma soft tissue sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001502 MONDO:0004993 True retroperitoneum carcinoma carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001502 MONDO:0005941 True retroperitoneum carcinoma retroperitoneal cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001505 MONDO:0002251 True alcoholic hepatitis hepatitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001505 MONDO:0043693 True alcoholic hepatitis alcoholic liver diseases UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001514 MONDO:0001592 True prolapse of urethra prolapse of female genital organ SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001520 MONDO:0001162 True kleptomania impulse control disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001521 MONDO:0001162 True intermittent explosive disorder impulse control disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001522 MONDO:0001162 True pyromania impulse control disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001526 MONDO:0001528 True labia minora cancer vulva cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001528 MONDO:0001416 True vulva cancer female reproductive organ cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001502 MONDO:0004993 True retroperitoneum carcinoma carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001502 MONDO:0005941 True retroperitoneum carcinoma retroperitoneal cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001503 MONDO:0004390 True primary eye hypotony ocular hypotension UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001504 MONDO:0000596 True fetishistic disorder paraphilic disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001505 MONDO:0002251 True alcoholic hepatitis hepatitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001506 MONDO:0006032 True prostatocystitis cystitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001507 MONDO:0002008 True viral labyrinthitis labyrinthitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001507 MONDO:0005108 True viral labyrinthitis viral infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001508 MONDO:0004866 True patulous eustachian tube eustachian tube disorder UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001509 MONDO:0004751 True endocrine exophthalmos disease of orbital part of eye adnexa UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001510 MONDO:0004751 True lateral displacement of eye disease of orbital part of eye adnexa UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001511 MONDO:0001509 True thyrotoxic exophthalmos endocrine exophthalmos UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001512 MONDO:0004751 True intermittent proptosis disease of orbital part of eye adnexa UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001513 MONDO:0004751 True pulsating exophthalmos disease of orbital part of eye adnexa UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001514 MONDO:0001592 True prolapse of urethra prolapse of female genital organ SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001514 MONDO:0004184 True prolapse of urethra urethral disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001515 MONDO:0000942 True corneal degeneration corneal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001516 MONDO:0020128 True spinal muscular atrophy motor neuron disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001517 MONDO:0000916 True dysentery intestinal infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001518 MONDO:0001519 True spastic entropion entropion UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001519 MONDO:0003382 True entropion eyelid disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001520 MONDO:0001162 True kleptomania impulse control disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001521 MONDO:0001162 True intermittent explosive disorder impulse control disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001522 MONDO:0001162 True pyromania impulse control disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001523 MONDO:0005328 True luxation of globe eye disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001525 MONDO:0003240 True thyrocalcitonin secretion disease thyroid gland disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001526 MONDO:0001528 True labia minora cancer vulva cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001526 MONDO:0002898 True labia minora cancer skin cancer UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001527 MONDO:0003432 True conjugate gaze palsy strabismus UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001528 MONDO:0001416 True vulva cancer female reproductive organ cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0001528 MONDO:0021049 True vulva cancer vulvar neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0001529 MONDO:0002280 True pancytopenia anemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0001530 MONDO:0001343 True secondary hyperparathyroidism of renal origin impaired renal function disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001531 MONDO:0005570 True blood coagulation disease hematologic disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001536 MONDO:0000647 True vaginal leiomyoma benign vaginal neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001536 MONDO:0001572 True vaginal leiomyoma leiomyoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001540 MONDO:0017853 True bagassosis hypersensitivity pneumonitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001549 MONDO:0001531 True hemolytic-uremic syndrome blood coagulation disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001552 MONDO:0004681 True dyscalculia learning disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001555 MONDO:0010138 True neonatal thyrotoxicosis thyrotoxicosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001558 MONDO:0002254 True Potter sequence syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001559 MONDO:0001592 True perineocele prolapse of female genital organ SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001560 MONDO:0001561 True hypertrophic pyloric stenosis pyloric stenosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001561 MONDO:0004298 True pyloric stenosis stomach disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001563 MONDO:0003569 True vestibulocochlear nerve disorder cranial nerve neuropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001564 MONDO:0021084 True binocular vision disease vision disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001567 MONDO:0005240 True nephrocalcinosis kidney disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001568 MONDO:0004750 True mixed receptive-expressive language disorder language disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001569 MONDO:0002546 True acoustic neuroma schwannoma UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001530 MONDO:0006964 True secondary hyperparathyroidism of renal origin secondary hyperparathyroidism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001531 MONDO:0005570 True blood coagulation disease hematologic disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001533 MONDO:0002183 True pes anserinus tendinitis or bursitis enthesopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001534 MONDO:0006170 True ocular hyperemia conjunctival disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001535 MONDO:0002639 True vagus nerve disorder glossopharyngeal nerve disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001536 MONDO:0000647 True vaginal leiomyoma benign vaginal neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001536 MONDO:0001572 True vaginal leiomyoma leiomyoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001538 MONDO:0005053 True retinal ischemia ischemic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001538 MONDO:0005283 True retinal ischemia retinal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001539 MONDO:0008375 True retinal perforation retinal detachment UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001540 MONDO:0017853 True bagassosis hypersensitivity pneumonitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001542 MONDO:0004797 True common peroneal nerve lesion mononeuritis of lower limb UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001544 MONDO:0004797 True tibial nerve palsy mononeuritis of lower limb UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001546 MONDO:0005095 True hypermobility of coccyx spondyloarthropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001547 MONDO:0003648 True atrophic nonflaccid tympanic membrane tympanic membrane disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001548 MONDO:0001711 True hepatic coma hepatic encephalopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001551 MONDO:0002187 True ulceration of vulva vulvar disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001552 MONDO:0004681 True dyscalculia learning disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001553 MONDO:0001554 True phacolytic glaucoma phacogenic glaucoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001554 MONDO:0005041 True phacogenic glaucoma glaucoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001555 MONDO:0010138 True neonatal thyrotoxicosis thyrotoxicosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001556 MONDO:0004184 True urethral obstruction urethral disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001557 MONDO:0002183 True olecranon bursitis enthesopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001557 MONDO:0002471 True olecranon bursitis bursitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001559 MONDO:0001592 True perineocele prolapse of female genital organ SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001560 MONDO:0001561 True hypertrophic pyloric stenosis pyloric stenosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001561 MONDO:0004298 True pyloric stenosis stomach disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001562 MONDO:0007721 True displacement of cardia through esophageal hiatus hiatus hernia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001563 MONDO:0002453 True vestibulocochlear nerve disorder retrocochlear disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001563 MONDO:0003569 True vestibulocochlear nerve disorder cranial nerve neuropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001563 MONDO:0003620 True vestibulocochlear nerve disorder peripheral nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001565 MONDO:0001564 True abnormal retinal correspondence binocular vision disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001566 MONDO:0005557 True hypercalcemia disease calcium metabolic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001567 MONDO:0005240 True nephrocalcinosis kidney disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001569 MONDO:0002546 True acoustic neuroma schwannoma UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001571 MONDO:0002145 True gynecomastia disorder disorder of sexual differentiation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0001572 MONDO:0006106 True leiomyoma benign smooth muscle neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001576 MONDO:0021658 True telangiectasis vascular ectasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001577 MONDO:0024352 True respiratory syncytial virus infectious disease viral respiratory tract infection UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001580 MONDO:0002460 True lacrimal duct cancer lacrimal system cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001586 MONDO:0019249 True mucopolysaccharidosis type 1 mucopolysaccharidosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001595 MONDO:0005395 True choreatic disease movement disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001598 MONDO:0001142 True benign lymphoepithelial lesion of salivary gland salivary gland disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001601 MONDO:0005136 True Plasmodium ovale malaria malaria SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001574 MONDO:0005385 True capillary disorder vascular disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001575 MONDO:0003617 True chronic gonococcal salpingitis chronic salpingitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001576 MONDO:0005294 True telangiectasis peripheral vascular disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001579 MONDO:0000942 True corneal staphyloma corneal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001580 MONDO:0002460 True lacrimal duct cancer lacrimal system cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001582 MONDO:0002043 True cicatricial ectropion ectropion UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001583 MONDO:0006626 True diabetic polyneuropathy diabetic neuropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001584 MONDO:0003569 True ocular motility disease cranial nerve neuropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001585 MONDO:0002491 True hallucinogen abuse substance abuse UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001586 MONDO:0019249 True mucopolysaccharidosis type 1 mucopolysaccharidosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001588 MONDO:0004804 True chronic lacrimal gland enlargement dacryoadenitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001591 MONDO:0001519 True senile entropion entropion UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001592 MONDO:0002263 True prolapse of female genital organ female reproductive system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001594 MONDO:0002471 True Achilles bursitis bursitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001595 MONDO:0005395 True choreatic disease movement disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001596 MONDO:0003117 True hypochondriasis somatoform disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001597 MONDO:0001142 True submandibular gland disorder salivary gland disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001598 MONDO:0001142 True benign lymphoepithelial lesion of salivary gland salivary gland disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001600 MONDO:0001142 True mucocele of salivary gland salivary gland disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001601 MONDO:0005136 True Plasmodium ovale malaria malaria SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0001602 MONDO:0001526 True labia minora carcinoma labia minora cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001602 MONDO:0005215 True labia minora carcinoma vulvar carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001602 MONDO:0005215 True labia minora carcinoma vulvar carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001603 MONDO:0001604 True paralytic lagophthalmos lagophthalmos UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001604 MONDO:0003382 True lagophthalmos eyelid disorder UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0001606 MONDO:0003641 True central nervous system leukemia central nervous system hematopoietic neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0001606 MONDO:0005059 True central nervous system leukemia leukemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001607 MONDO:0001082 True intrapelvic lymph node leukemic reticuloendotheliosis lymph node cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0001608 MONDO:0001535 True vagus nerve neoplasm vagus nerve disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001609 MONDO:0003785 True agranulocytosis leukopenia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001612 MONDO:0005269 True carotid stenosis carotid artery disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001615 MONDO:0004768 True epidemic keratoconjunctivitis keratoconjunctivitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001620 MONDO:0019633 True louse-borne relapsing fever relapsing fever SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001621 MONDO:0006956 True tick-borne relapsing fever Rickettsiosis UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001621 MONDO:0019633 True tick-borne relapsing fever relapsing fever SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001622 MONDO:0001604 True mechanical lagophthalmos lagophthalmos SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001623 MONDO:0001604 True cicatricial lagophthalmos lagophthalmos SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001627 MONDO:0002039 True dementia cognitive disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001628 MONDO:0004678 True tinea unguium dermatophytosis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001628 MONDO:0024487 True tinea unguium nail infection UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001630 MONDO:0006948 True branch retinal artery occlusion retinal artery occlusion UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001631 MONDO:0000473 True vertebral artery insufficiency arterial disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001631 MONDO:0002254 True vertebral artery insufficiency syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001633 MONDO:0006948 True central retinal artery occlusion retinal artery occlusion UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001633 MONDO:0020673 True central retinal artery occlusion arterial occlusion UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001634 MONDO:0000384 True bladder leiomyoma bladder benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001634 MONDO:0001572 True bladder leiomyoma leiomyoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001635 MONDO:0000384 True bladder squamous papilloma bladder benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001609 MONDO:0003785 True agranulocytosis leukopenia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001610 MONDO:0004926 True acute dacryocystitis dacryocystitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001611 MONDO:0004926 True phlegmonous dacryocystitis dacryocystitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001612 MONDO:0005269 True carotid stenosis carotid artery disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001614 MONDO:0001082 True intra-abdominal lymph node mast cell malignancy lymph node cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001615 MONDO:0004768 True epidemic keratoconjunctivitis keratoconjunctivitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001616 MONDO:0002040 True lobomycosis dermatomycosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001617 MONDO:0001152 True transient global amnesia amnestic disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001620 MONDO:0019633 True louse-borne relapsing fever relapsing fever SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001621 MONDO:0019633 True tick-borne relapsing fever relapsing fever SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001622 MONDO:0001604 True mechanical lagophthalmos lagophthalmos SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001623 MONDO:0001604 True cicatricial lagophthalmos lagophthalmos SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001624 MONDO:0005964 True acute sphenoidal sinusitis sphenoid sinusitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001625 MONDO:0003282 True corpus luteum cyst ovarian cyst UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001626 MONDO:0005041 True traumatic glaucoma glaucoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001627 MONDO:0002039 True dementia cognitive disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001628 MONDO:0004678 True tinea unguium dermatophytosis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001629 MONDO:0007179 True Jaccoud syndrome autoimmune disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001630 MONDO:0006948 True branch retinal artery occlusion retinal artery occlusion UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001631 MONDO:0000473 True vertebral artery insufficiency arterial disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001631 MONDO:0002254 True vertebral artery insufficiency syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001631 MONDO:0005264 True vertebral artery insufficiency transient ischemic attack UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001632 MONDO:0002277 True intracranial arteriosclerosis arteriosclerosis disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001633 MONDO:0006948 True central retinal artery occlusion retinal artery occlusion UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001634 MONDO:0000384 True bladder leiomyoma bladder benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001634 MONDO:0001572 True bladder leiomyoma leiomyoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001635 MONDO:0000384 True bladder squamous papilloma bladder benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0001635 MONDO:0001825 True bladder squamous papilloma squamous papilloma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001641 MONDO:0005081 True severe pre-eclampsia preeclampsia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001648 MONDO:0001649 True esophageal candidiasis fungal esophagitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001648 MONDO:0002026 True esophageal candidiasis candidiasis SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001649 MONDO:0001409 True fungal esophagitis esophagitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001649 MONDO:0002041 True fungal esophagitis fungal infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001649 MONDO:0043424 True fungal esophagitis digestive system infectious disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001650 MONDO:0006032 True acute cystitis cystitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001651 MONDO:0002650 True scrotum squamous cell carcinoma scrotal carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001651 MONDO:0005096 True scrotum squamous cell carcinoma squamous cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001652 MONDO:0003319 True scrotum melanoma scrotum neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001652 MONDO:0005105 True scrotum melanoma melanoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001654 MONDO:0005836 True spermatic cord cancer male reproductive organ cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001656 MONDO:0003749 True megaesophagus esophageal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001657 MONDO:0002714 True brain cancer central nervous system cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001636 MONDO:0001519 True mechanical entropion entropion UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001637 MONDO:0001519 True cicatricial entropion entropion UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001638 MONDO:0001639 True protein-deficiency anemia deficiency anemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001639 MONDO:0002280 True deficiency anemia anemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001640 MONDO:0003937 True gonococcal spondylitis spondylitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001641 MONDO:0005081 True severe pre-eclampsia preeclampsia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001643 MONDO:0003425 True exophthalmic ophthalmoplegia ophthalmoplegia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001645 MONDO:0001644 True crescentic glomerulonephritis acute proliferative glomerulonephritis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001646 MONDO:0001200 True benign secondary hypertension secondary hypertension UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001647 MONDO:0001105 True benign renovascular hypertension renal hypertension UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001647 MONDO:0001646 True benign renovascular hypertension benign secondary hypertension UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001648 MONDO:0002026 True esophageal candidiasis candidiasis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001649 MONDO:0001409 True fungal esophagitis esophagitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001649 MONDO:0002041 True fungal esophagitis fungal infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001650 MONDO:0006032 True acute cystitis cystitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001651 MONDO:0002650 True scrotum squamous cell carcinoma scrotal carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001651 MONDO:0005096 True scrotum squamous cell carcinoma squamous cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001652 MONDO:0003319 True scrotum melanoma scrotum neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001652 MONDO:0005105 True scrotum melanoma melanoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001653 MONDO:0002898 True prepuce cancer skin cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001654 MONDO:0005836 True spermatic cord cancer male reproductive organ cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001655 MONDO:0004843 True dissociated nystagmus pathologic nystagmus UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001656 MONDO:0003749 True megaesophagus esophageal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001657 MONDO:0002714 True brain cancer central nervous system cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0001657 MONDO:0021211 True brain cancer brain neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001658 MONDO:0005397 True nontoxic goiter goiter UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001660 MONDO:0005266 True proliferative diabetic retinopathy diabetic retinopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001661 MONDO:0005266 True background diabetic retinopathy diabetic retinopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001665 MONDO:0018077 True oculoglandular tularemia tularemia SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001680 MONDO:0000647 True vaginal mullerian papilloma benign vaginal neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001658 MONDO:0005397 True nontoxic goiter goiter UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001660 MONDO:0005266 True proliferative diabetic retinopathy diabetic retinopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001661 MONDO:0005266 True background diabetic retinopathy diabetic retinopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001663 MONDO:0002175 True hole retinal cyst degeneration of macula and posterior pole UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001664 MONDO:0007886 True submucous uterine fibroid uterine corpus leiomyoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001665 MONDO:0018077 True oculoglandular tularemia tularemia SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001666 MONDO:0019118 True retinal dystrophies primarily involving Bruch's membrane inherited retinal dystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001668 MONDO:0001670 True internal pathological resorption of tooth tooth resorption UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001670 MONDO:0002220 True tooth resorption tooth hard tissue disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001671 MONDO:0005020 True mucocele of appendix intestinal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001672 MONDO:0000376 True bronchus cancer respiratory system cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001673 MONDO:0004335 True diarrheal disease digestive system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001674 MONDO:0003409 True diverticulitis of colon colonic disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001674 MONDO:0004235 True diverticulitis of colon diverticulitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001676 MONDO:0002520 True erythropoietic protoporphyria hepatic porphyria UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001676 MONDO:0019142 True erythropoietic protoporphyria inherited porphyria UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001678 MONDO:0005768 True intestinal tuberculosis gastrointestinal tuberculosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001680 MONDO:0000647 True vaginal mullerian papilloma benign vaginal neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0001680 MONDO:0001704 True vaginal mullerian papilloma vaginal glandular neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0001680 MONDO:0021078 True vaginal mullerian papilloma glandular papilloma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001683 MONDO:0002356 True pancreatic mucinous ductal ectasia pancreas disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001684 MONDO:0002356 True exocrine pancreatic insufficiency pancreas disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001688 MONDO:0005885 True toxic optic neuropathy optic neuritis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001699 MONDO:0004678 True tinea manuum dermatophytosis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001700 MONDO:0002281 True megaloblastic anemia macrocytic anemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001681 MONDO:0006032 True diphtheritic cystitis cystitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001682 MONDO:0004522 True diphtheritic peritonitis peritonitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001683 MONDO:0002356 True pancreatic mucinous ductal ectasia pancreas disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001684 MONDO:0002356 True exocrine pancreatic insufficiency pancreas disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001685 MONDO:0002314 True chronic follicular conjunctivitis chronic conjunctivitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001686 MONDO:0004744 True anatomical narrow angle borderline glaucoma borderline glaucoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001687 MONDO:0005129 True diabetic cataract cataract UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001688 MONDO:0005885 True toxic optic neuropathy optic neuritis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001689 MONDO:0001165 True hypertrophy of tongue papillae tongue disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001690 MONDO:0002314 True parasitic conjunctivitis chronic conjunctivitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001691 MONDO:0002352 True laryngeal cartilage cancer larynx cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001692 MONDO:0000596 True pedophilia paraphilic disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001694 MONDO:0004902 True diffuse interstitial keratitis interstitial keratitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001695 MONDO:0002043 True senile ectropion ectropion UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001697 MONDO:0004681 True reading disorder learning disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001698 MONDO:0004678 True tinea profunda dermatophytosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001699 MONDO:0004678 True tinea manuum dermatophytosis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001700 MONDO:0002281 True megaloblastic anemia macrocytic anemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001701 MONDO:0005119 True gastrointestinal anthrax anthrax infection UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0001702 MONDO:0001403 True labia majora carcinoma labium majus cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001702 MONDO:0005215 True labia majora carcinoma vulvar carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001703 MONDO:0001941 True color vision disorder blindness (disorder) UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001702 MONDO:0005215 True labia majora carcinoma vulvar carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001703 MONDO:0001941 True color vision disorder blindness (disorder) UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0001704 MONDO:0021050 True vaginal glandular neoplasm vaginal neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0001704 MONDO:0024276 True vaginal glandular neoplasm glandular cell neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001707 MONDO:0019338 True cardiac sarcoidosis sarcoidosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001708 MONDO:0019338 True pulmonary sarcoidosis sarcoidosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001709 MONDO:0019338 True hypercalcemic sarcoidosis sarcoidosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001711 MONDO:0005560 True hepatic encephalopathy brain disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001718 MONDO:0001269 True scleritis scleral disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001724 MONDO:0002352 True supraglottis cancer larynx cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001705 MONDO:0002280 True pure red-cell aplasia anemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001707 MONDO:0019338 True cardiac sarcoidosis sarcoidosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001708 MONDO:0019338 True pulmonary sarcoidosis sarcoidosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001709 MONDO:0019338 True hypercalcemic sarcoidosis sarcoidosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001711 MONDO:0005560 True hepatic encephalopathy brain disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001713 MONDO:0015909 True inherited aplastic anemia aplastic anemia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001715 MONDO:0003718 True basilar artery occlusion occlusion precerebral artery UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001716 MONDO:0000942 True corneal argyrosis corneal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001717 MONDO:0001308 True posterior corneal pigmentation corneal deposit UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001718 MONDO:0001269 True scleritis scleral disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001719 MONDO:0002471 True gonococcal bursitis bursitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001720 MONDO:0002400 True gonococcal synovitis synovitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001721 MONDO:0004184 True urethral intrinsic sphincter deficiency urethral disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001722 MONDO:0001723 True central pterygium progressive peripheral pterygium UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001723 MONDO:0001055 True progressive peripheral pterygium conjunctival pterygium UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001724 MONDO:0002352 True supraglottis cancer larynx cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0001724 MONDO:0004427 True supraglottis cancer supraglottis neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001725 MONDO:0006672 True balanitis xerotica obliterans balanitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001731 MONDO:0000647 True benign vaginal mixed epithelial and mesenchymal neoplasm benign vaginal neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001732 MONDO:0006032 True trigonitis cystitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001734 MONDO:0015356 True tuberous sclerosis hereditary neoplastic syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001734 MONDO:0042983 True tuberous sclerosis neurocutaneous syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001737 MONDO:0005526 True tetanus neonatorum tetanus UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001725 MONDO:0006672 True balanitis xerotica obliterans balanitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001727 MONDO:0007972 True active cochleovestibular Meniere disease Meniere disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001728 MONDO:0007972 True active vestibular Meniere disease Meniere disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001729 MONDO:0007972 True active cochlear Meniere disease Meniere disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001730 MONDO:0004184 True urethral syndrome urethral disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001731 MONDO:0000647 True benign vaginal mixed epithelial and mesenchymal neoplasm benign vaginal neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001732 MONDO:0006032 True trigonitis cystitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001734 MONDO:0000426 True tuberous sclerosis autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001734 MONDO:0015356 True tuberous sclerosis hereditary neoplastic syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0001735 MONDO:0002436 True paranasal sinus disorder nasal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001735 MONDO:0005087 True paranasal sinus disorder respiratory system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001736 MONDO:0006849 True neonatal infective mastitis mastitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001737 MONDO:0005526 True tetanus neonatorum tetanus UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001739 MONDO:0002008 True purulent labyrinthitis labyrinthitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0001740 MONDO:0002466 True cornea squamous cell carcinoma eye carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001740 MONDO:0003802 True cornea squamous cell carcinoma cornea cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001741 MONDO:0001223 True hyperparathyroidism parathyroid gland disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001740 MONDO:0003802 True cornea squamous cell carcinoma cornea cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001741 MONDO:0001223 True hyperparathyroidism parathyroid gland disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001742 MONDO:0001868 True interval angle-closure glaucoma primary angle-closure glaucoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0001743 MONDO:0020669 True paranasal sinus lymphoma paranasal sinus cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001748 MONDO:0000380 True maxillary sinus carcinoma paranasal sinus carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001744 MONDO:0005041 True angle-closure glaucoma glaucoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001745 MONDO:0007886 True subserous uterine fibroid uterine corpus leiomyoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001746 MONDO:0002135 True optic disk drusen optic nerve disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001747 MONDO:0002183 True tibial collateral ligament bursitis enthesopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001748 MONDO:0000380 True maxillary sinus carcinoma paranasal sinus carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0001748 MONDO:0006850 True maxillary sinus carcinoma maxillary sinus neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001754 MONDO:0045048 True eclampsia toxemia of pregnancy UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0001749 MONDO:0004847 True cortical senile cataract senile cataract UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001751 MONDO:0002887 True cholestasis bile duct disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001752 MONDO:0004934 True alveolar periostitis periostitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001753 MONDO:0002654 True female infertility of uterine origin uterine disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001756 MONDO:0000380 True frontal sinus cancer paranasal sinus carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0001756 MONDO:0001757 True frontal sinus cancer frontal sinus neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001757 MONDO:0005289 True frontal sinus neoplasm paranasal sinus neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001757 MONDO:0005289 True frontal sinus neoplasm paranasal sinus neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001758 MONDO:0000380 True paranasal sinus sarcoma paranasal sinus carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0001758 MONDO:0018078 True paranasal sinus sarcoma soft tissue sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001760 MONDO:0003085 True photokeratitis keratitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001760 MONDO:0003085 True photokeratitis keratitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001761 MONDO:0005775 True favism G6PD deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001762 MONDO:0002325 True dentine erosion tooth erosion, non-bacterial UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001763 MONDO:0000380 True ethmoid sinus cancer paranasal sinus carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0001763 MONDO:0001764 True ethmoid sinus cancer ethmoidal sinus neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001764 MONDO:0005289 True ethmoidal sinus neoplasm paranasal sinus neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001778 MONDO:0002378 True dermoid cyst of skin dermoid cyst UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001778 MONDO:0002531 True dermoid cyst of skin skin neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001779 MONDO:0000647 True vaginal squamous papilloma benign vaginal neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001764 MONDO:0005289 True ethmoidal sinus neoplasm paranasal sinus neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001765 MONDO:0001824 True polyneuropathy in collagen vascular disease polyneuropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001766 MONDO:0001854 True eversion of lacrimal punctum lacrimal apparatus disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001767 MONDO:0001854 True stenosis of lacrimal punctum lacrimal apparatus disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001768 MONDO:0001854 True stenosis of lacrimal passage lacrimal apparatus disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001770 MONDO:0001933 True gastrin secretion abnormality endocrine pancreas disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001771 MONDO:0002127 True infective urethral stricture urethral stricture UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001772 MONDO:0001593 True ulcer of anus and rectum rectal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001773 MONDO:0019956 True post-vaccinal encephalitis encephalitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001774 MONDO:0001718 True posterior scleritis scleritis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001775 MONDO:0002688 True chronic duodenal ileus duodenal obstruction UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001776 MONDO:0003105 True prostate calculus prostate disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001776 MONDO:0004828 True prostate calculus lower urinary tract calculus UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001777 MONDO:0001650 True acute gonococcal cystitis acute cystitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001778 MONDO:0002378 True dermoid cyst of skin dermoid cyst UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001778 MONDO:0002531 True dermoid cyst of skin skin neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001779 MONDO:0000647 True vaginal squamous papilloma benign vaginal neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0001779 MONDO:0001806 True vaginal squamous papilloma vaginal squamous tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0001779 MONDO:0001825 True vaginal squamous papilloma squamous papilloma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001780 MONDO:0000595 True premature ejaculation sexual and gender identity disorders UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001780 MONDO:0000595 True premature ejaculation sexual and gender identity disorders UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0001781 MONDO:0004230 True uterine corpus adenomatoid tumor adenomatoid tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0001781 MONDO:0021525 True uterine corpus adenomatoid tumor benign neoplasm of corpus uteri UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0001782 MONDO:0005129 True mature cataract cataract UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0001783 MONDO:0021525 True endometrial stromal nodule benign neoplasm of corpus uteri UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0001783 MONDO:0044335 True endometrial stromal nodule benign soft tissue neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001789 MONDO:0016755 True neurofibroma of spinal cord neurofibroma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001784 MONDO:0001105 True malignant renovascular hypertension renal hypertension UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001784 MONDO:0001785 True malignant renovascular hypertension malignant secondary hypertension UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001785 MONDO:0001200 True malignant secondary hypertension secondary hypertension UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001786 MONDO:0002654 True uterine inflammatory disease uterine disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001787 MONDO:0002405 True hepatic infarction hepatic vascular disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001788 MONDO:0002405 True nutmeg liver hepatic vascular disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001789 MONDO:0016755 True neurofibroma of spinal cord neurofibroma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0001789 MONDO:0021234 True neurofibroma of spinal cord spinal cord neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001790 MONDO:0003844 True spinal cord lipoma central nervous system lipoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001790 MONDO:0003844 True spinal cord lipoma central nervous system lipoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0001790 MONDO:0021506 True spinal cord lipoma benign neoplasm of spinal cord UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001794 MONDO:0021201 True Pthirus pubis infestation skin infection UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0001792 MONDO:0001793 True epiphora due to insufficient drainage excessive tearing UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001793 MONDO:0001854 True excessive tearing lacrimal apparatus disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001794 MONDO:0003472 True Pthirus pubis infestation lice infestation UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0001795 MONDO:0024666 True plantar wart benign epithelial skin neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0001797 MONDO:0000314 True chancroid primary bacterial infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001798 MONDO:0006816 True hypermobility syndrome arthropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001799 MONDO:0001269 True localized anterior staphyloma scleral disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001800 MONDO:0001269 True equatorial staphyloma scleral disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001801 MONDO:0001269 True staphyloma posticum scleral disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001803 MONDO:0003648 True myringitis bullosa hemorrhagica tympanic membrane disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001804 MONDO:0001718 True anterior scleritis scleritis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001805 MONDO:0004379 True female breast central part cancer female breast carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0001806 MONDO:0002532 True vaginal squamous tumor squamous cell neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0001806 MONDO:0021050 True vaginal squamous tumor vaginal neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001810 MONDO:0003569 True hypoglossal nerve disorder cranial nerve neuropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001811 MONDO:0005129 True tetanic cataract cataract UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001823 MONDO:0002254 True sick sinus syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001824 MONDO:0005244 True polyneuropathy peripheral neuropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001825 MONDO:0002363 True squamous papilloma papilloma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001828 MONDO:0001703 True acquired color blindness color vision disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001832 MONDO:0001409 True bacterial esophagitis esophagitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001834 MONDO:0021084 True visual pathway disorder vision disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001836 MONDO:0002263 True amenorrhea female reproductive system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001841 MONDO:0007886 True uterine corpus epithelioid leiomyoma uterine corpus leiomyoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001842 MONDO:0007886 True uterine corpus dissecting leiomyoma uterine corpus leiomyoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001844 MONDO:0007886 True uterine corpus myxoid leiomyoma uterine corpus leiomyoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001845 MONDO:0007886 True uterine corpus lipoleiomyoma uterine corpus leiomyoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001808 MONDO:0002654 True chronic subinvolution of uterus uterine disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001809 MONDO:0002654 True adhesions of uterus uterine disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001810 MONDO:0003569 True hypoglossal nerve disorder cranial nerve neuropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001810 MONDO:0003620 True hypoglossal nerve disorder peripheral nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001811 MONDO:0005129 True tetanic cataract cataract UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001812 MONDO:0004785 True parasitic eyelid infestation blepharitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001813 MONDO:0004785 True squamous blepharitis blepharitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001815 MONDO:0005395 True extrapyramidal and movement disease movement disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001816 MONDO:0001718 True scleroperikeratitis scleritis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001817 MONDO:0001868 True acute closed-angle glaucoma primary angle-closure glaucoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001818 MONDO:0002098 True facial neuralgia facial nerve disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001820 MONDO:0002008 True focal labyrinthitis labyrinthitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001821 MONDO:0000947 True hypoactive sexual desire disorder psychosexual disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001822 MONDO:0002525 True hypolipoproteinemia inherited lipid metabolism disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001823 MONDO:0000469 True sick sinus syndrome sinoatrial node disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001825 MONDO:0002363 True squamous papilloma papilloma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001828 MONDO:0001703 True acquired color blindness color vision disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001830 MONDO:0003117 True somatization disorder somatoform disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001831 MONDO:0011284 True irregular astigmatism astigmatism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001832 MONDO:0001409 True bacterial esophagitis esophagitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001836 MONDO:0002263 True amenorrhea female reproductive system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001837 MONDO:0001173 True acute gonococcal salpingitis acute salpingitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001841 MONDO:0007886 True uterine corpus epithelioid leiomyoma uterine corpus leiomyoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001842 MONDO:0007886 True uterine corpus dissecting leiomyoma uterine corpus leiomyoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001843 MONDO:0007886 True uterus interstitial leiomyoma uterine corpus leiomyoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001844 MONDO:0007886 True uterine corpus myxoid leiomyoma uterine corpus leiomyoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001845 MONDO:0007886 True uterine corpus lipoleiomyoma uterine corpus leiomyoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0001846 MONDO:0003288 True uterine corpus bizarre leiomyoma bizarre leiomyoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0001846 MONDO:0007886 True uterine corpus bizarre leiomyoma uterine corpus leiomyoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001852 MONDO:0000956 True small intestine lymphoma small intestine cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001847 MONDO:0004847 True nuclear senile cataract senile cataract UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001849 MONDO:0004751 True chronic orbital inflammation disease of orbital part of eye adnexa UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001850 MONDO:0004379 True female breast lower-outer quadrant cancer female breast carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001851 MONDO:0001854 True primary lacrimal atrophy lacrimal apparatus disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001852 MONDO:0000956 True small intestine lymphoma small intestine cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0001852 MONDO:0004699 True small intestine lymphoma gastrointestinal lymphoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001854 MONDO:0005328 True lacrimal apparatus disorder eye disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001871 MONDO:0003137 True acute diffuse glomerulonephritis diffuse glomerulonephritis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001873 MONDO:0002098 True geniculate ganglionitis facial nerve disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001853 MONDO:0002307 True contact blepharoconjunctivitis blepharoconjunctivitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001854 MONDO:0005328 True lacrimal apparatus disorder eye disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001855 MONDO:0005283 True rubeosis iridis retinal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001856 MONDO:0000473 True splenic artery aneurysm arterial disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001857 MONDO:0005683 True Brucella canis brucellosis brucellosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001858 MONDO:0002254 True Tietze syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001859 MONDO:0019369 True algoneurodystrophy complex regional pain syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001860 MONDO:0006873 True folic acid deficiency anemia nutritional deficiency disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001861 MONDO:0006294 True malignant parietal pleura tumor pleural cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001862 MONDO:0006294 True malignant visceral pleura tumor pleural cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001863 MONDO:0005561 True aorta atresia aortic disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001864 MONDO:0001868 True residual stage angle-closure glaucoma primary angle-closure glaucoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001866 MONDO:0004985 True bipolar I disorder bipolar disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001868 MONDO:0001744 True primary angle-closure glaucoma angle-closure glaucoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001870 MONDO:0002462 True acute poststreptococcal glomerulonephritis glomerulonephritis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001871 MONDO:0003137 True acute diffuse glomerulonephritis diffuse glomerulonephritis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001873 MONDO:0002098 True geniculate ganglionitis facial nerve disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001874 MONDO:0002008 True toxic labyrinthitis labyrinthitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001875 MONDO:0002614 True epicondylitis bone inflammation disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001876 MONDO:0002286 True renal artery atheroma renal artery disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001877 MONDO:0005372 True infertility due to extratesticular cause male infertility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0001879 MONDO:0003046 True anus cancer anus neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001881 MONDO:0002254 True toxic shock syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001880 MONDO:0006771 True median rhomboid glossitis glossitis UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001881 MONDO:0000315 True toxic shock syndrome commensal bacterial infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001882 MONDO:0002118 True bacteriuria urinary system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001883 MONDO:0005568 True blue toe syndrome cholesterol embolism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0001884 MONDO:0002633 True abducens nerve neoplasm cranial nerve neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0001884 MONDO:0020594 True abducens nerve neoplasm abducens nerve disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001885 MONDO:0001592 True lateral cystocele prolapse of female genital organ SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001886 MONDO:0001592 True midline cystocele prolapse of female genital organ SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001888 MONDO:0001879 True anus lymphoma anus cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001889 MONDO:0005558 True ovarian dysfunction ovarian disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001885 MONDO:0001592 True lateral cystocele prolapse of female genital organ SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001886 MONDO:0001592 True midline cystocele prolapse of female genital organ SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001887 MONDO:0002263 True Allen-Masters syndrome female reproductive system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001888 MONDO:0001879 True anus lymphoma anus cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001889 MONDO:0005558 True ovarian dysfunction ovarian disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001890 MONDO:0002325 True pulp erosion tooth erosion, non-bacterial UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0001892 MONDO:0002571 True spinal cord lymphoma primary central nervous system lymphoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001892 MONDO:0003544 True spinal cord lymphoma spinal cord cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001893 MONDO:0003544 True spinal cord melanoma spinal cord cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001892 MONDO:0003544 True spinal cord lymphoma spinal cord cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001893 MONDO:0003544 True spinal cord melanoma spinal cord cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0001893 MONDO:0016747 True spinal cord melanoma primary melanoma of the central nervous system UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0001894 MONDO:0002217 True spinal cord sarcoma central nervous system sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001894 MONDO:0003544 True spinal cord sarcoma spinal cord cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001896 MONDO:0001150 True obstructive hydrocephalus hydrocephalus SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001898 MONDO:0002661 True optic choroid disorder uveal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001901 MONDO:0045045 True selective IgG subclass deficiency selective IgG immunodeficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001907 MONDO:0016367 True adult dermatomyositis dermatomyositis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001916 MONDO:0018077 True gastrointestinal tularemia tularemia SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001922 MONDO:0005227 True pyoureter abscess UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001923 MONDO:0019118 True vitreoretinal dystrophy inherited retinal dystrophy SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001924 MONDO:0019118 True dystrophies primarily involving the retinal pigment epithelium inherited retinal dystrophy SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001926 MONDO:0002118 True ureteral disorder urinary system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001927 MONDO:0003628 True pulmonary valve insufficiency pulmonary valve disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001928 MONDO:0004789 True suppurative cholangitis cholangitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001929 MONDO:0004789 True ascending cholangitis cholangitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001930 MONDO:0004789 True acute cholangitis cholangitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001933 MONDO:0002356 True endocrine pancreas disorder pancreas disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001938 MONDO:0002187 True vulvar dystrophy vulvar disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001894 MONDO:0003544 True spinal cord sarcoma spinal cord cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001896 MONDO:0001150 True obstructive hydrocephalus hydrocephalus SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001897 MONDO:0002467 True bilateral hyperactive labyrinth inner ear disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001898 MONDO:0002661 True optic choroid disorder uveal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001899 MONDO:0005009 True rheumatic congestive heart failure congestive heart failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001903 MONDO:0004857 True calcific tendinitis tendinitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001905 MONDO:0004855 True bicipital tenosynovitis tenosynovitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001907 MONDO:0016367 True adult dermatomyositis dermatomyositis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001909 MONDO:0006510 True renal tubular acidosis renal tubular transport disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001910 MONDO:0003900 True ochronosis disorder connective tissue disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001911 MONDO:0002567 True tracheal calcification tracheal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001912 MONDO:0001121 True acute frontal sinusitis frontal sinusitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001913 MONDO:0005372 True oligospermia male infertility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001915 MONDO:0004751 True orbital cyst disease of orbital part of eye adnexa UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001916 MONDO:0018077 True gastrointestinal tularemia tularemia SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001917 MONDO:0002246 True chronic perichondritis of pinna perichondritis of auricle UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001918 MONDO:0001793 True epiphora due to excess lacrimation excessive tearing UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001919 MONDO:0002175 True cystoid macular retinal degeneration degeneration of macula and posterior pole UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001920 MONDO:0005975 True chronic purulent otitis media suppurative otitis media UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001921 MONDO:0001920 True chronic atticoantral disease chronic purulent otitis media UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001922 MONDO:0001926 True pyoureter ureteral disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001923 MONDO:0019118 True vitreoretinal dystrophy inherited retinal dystrophy SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001924 MONDO:0019118 True dystrophies primarily involving the retinal pigment epithelium inherited retinal dystrophy SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001925 MONDO:0019118 True retinal dystrophy in systemic or cerebroretinal lipidoses inherited retinal dystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001926 MONDO:0002118 True ureteral disorder urinary system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001927 MONDO:0003628 True pulmonary valve insufficiency pulmonary valve disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001928 MONDO:0004789 True suppurative cholangitis cholangitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001929 MONDO:0004789 True ascending cholangitis cholangitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001930 MONDO:0004789 True acute cholangitis cholangitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001931 MONDO:0004789 True pericholangitis cholangitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001933 MONDO:0002356 True endocrine pancreas disorder pancreas disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001935 MONDO:0006816 True neurogenic arthropathy arthropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001936 MONDO:0001804 True brawny scleritis anterior scleritis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001938 MONDO:0002187 True vulvar dystrophy vulvar disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0001939 MONDO:0003110 True skin epithelioid hemangioma skin hemangioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0001939 MONDO:0021169 True skin epithelioid hemangioma epithelioid hemangioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001941 MONDO:0021084 True blindness (disorder) vision disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001942 MONDO:0005618 True generalized anxiety disorder anxiety disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001943 MONDO:0005136 True Plasmodium malariae malaria malaria UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001945 MONDO:0006966 True postencephalitic Parkinson disease secondary Parkinson disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001947 MONDO:0004126 True suppurative thyroiditis thyroiditis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001951 MONDO:0004525 True Norwegian scabies scabies UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001956 MONDO:0002254 True capillary leak syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001940 MONDO:0005249 True pleuropneumonia pneumonia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001942 MONDO:0005618 True generalized anxiety disorder anxiety disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001943 MONDO:0005136 True Plasmodium malariae malaria malaria UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001944 MONDO:0005136 True mixed malaria malaria UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001945 MONDO:0006966 True postencephalitic Parkinson disease secondary Parkinson disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001947 MONDO:0004126 True suppurative thyroiditis thyroiditis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001949 MONDO:0004126 True acute thyroiditis thyroiditis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001950 MONDO:0000942 True corneal ectasia corneal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001951 MONDO:0004525 True Norwegian scabies scabies UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001952 MONDO:0002731 True parietal lobe cancer cerebral hemisphere cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001953 MONDO:0002118 True pyuria urinary system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001954 MONDO:0002800 True thrombophlebitis migrans thrombophlebitis UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001955 MONDO:0001517 True protozoal dysentery dysentery UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001956 MONDO:0001574 True capillary leak syndrome capillary disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001959 MONDO:0002467 True labyrinthine bilateral reactive loss inner ear disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001962 MONDO:0001933 True abnormality of glucagon secretion endocrine pancreas disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001964 MONDO:0005975 True chronic tubotympanic suppurative otitis media suppurative otitis media UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001965 MONDO:0004903 True sclerosing keratitis deep keratitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001966 MONDO:0001868 True chronic closed-angle glaucoma primary angle-closure glaucoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001971 MONDO:0017853 True farmer's lung disease hypersensitivity pneumonitis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001972 MONDO:0005683 True Brucella melitensis brucellosis brucellosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001973 MONDO:0005683 True Brucella abortus brucellosis brucellosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0001974 MONDO:0006500 True hemangioma of orbit hemangioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001975 MONDO:0003155 True cavernous hemangioma of orbit cavernous hemangioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001977 MONDO:0005062 True ureteral lymphoma lymphoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001977 MONDO:0008627 True ureteral lymphoma ureter cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001978 MONDO:0006481 True regional ureteric cancer ureter carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001979 MONDO:0002254 True dumping syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001982 MONDO:0019255 True Niemann-Pick disease sphingolipidosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001985 MONDO:0006948 True partial arterial retinal occlusion retinal artery occlusion UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001975 MONDO:0003155 True cavernous hemangioma of orbit cavernous hemangioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001976 MONDO:0001595 True chorea gravidarum choreatic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001977 MONDO:0005062 True ureteral lymphoma lymphoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001977 MONDO:0008627 True ureteral lymphoma ureter cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001978 MONDO:0006481 True regional ureteric cancer ureter carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001979 MONDO:0004566 True dumping syndrome postgastrectomy syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001982 MONDO:0019255 True Niemann-Pick disease sphingolipidosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001983 MONDO:0001515 True peripheral degeneration of cornea corneal degeneration UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001984 MONDO:0002026 True candidal paronychia candidiasis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001985 MONDO:0006948 True partial arterial retinal occlusion retinal artery occlusion UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001986 MONDO:0001303 True Argyll Robertson pupil abnormal pupillary function UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001988 MONDO:0001670 True external pathological resorption tooth resorption UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001989 MONDO:0006771 True atrophic glossitis glossitis UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0001990 MONDO:0003354 True malignant cardiac peripheral nerve sheath neoplasm heart sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001990 MONDO:0017827 True malignant cardiac peripheral nerve sheath neoplasm malignant peripheral nerve sheath tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001991 MONDO:0001340 True malignant cardiac germ cell tumor heart cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001990 MONDO:0017827 True malignant cardiac peripheral nerve sheath neoplasm malignant peripheral nerve sheath tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001991 MONDO:0001340 True malignant cardiac germ cell tumor heart cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0001991 MONDO:0003113 True malignant cardiac germ cell tumor extragonadal germ cell cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0001991 MONDO:0020589 True malignant cardiac germ cell tumor cardiac germ cell tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001992 MONDO:0003562 True rete testis adenocarcinoma rete testis neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001992 MONDO:0004970 True rete testis adenocarcinoma adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001992 MONDO:0003562 True rete testis adenocarcinoma rete testis neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001992 MONDO:0004970 True rete testis adenocarcinoma adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0001993 MONDO:0002790 True seminal vesicle adenocarcinoma seminal vesicle tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001993 MONDO:0004970 True seminal vesicle adenocarcinoma adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001993 MONDO:0004970 True seminal vesicle adenocarcinoma adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001994 MONDO:0000380 True sphenoidal sinus cancer paranasal sinus carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0001994 MONDO:0004047 True sphenoidal sinus cancer sphenoidal sinus neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001995 MONDO:0001994 True sphenoid sinus squamous cell carcinoma sphenoidal sinus cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001995 MONDO:0001994 True sphenoid sinus squamous cell carcinoma sphenoidal sinus cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0001995 MONDO:0044705 True sphenoid sinus squamous cell carcinoma paranasal sinus squamous cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002008 MONDO:0002467 True labyrinthitis inner ear disorder SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002008 MONDO:0021166 True labyrinthitis inflammatory disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002009 MONDO:0002050 True major depressive disorder depressive disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001996 MONDO:0004744 True steroid-induced glaucoma - borderline borderline glaucoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001997 MONDO:0001670 True root resorption tooth resorption UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001998 MONDO:0002003 True Foster-Kennedy syndrome papilledema UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001999 MONDO:0001493 True primary pulmonary hypertension chronic pulmonary heart disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002000 MONDO:0006670 True anaerobic meningitis bacterial meningitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002002 MONDO:0005420 True postsurgical hypothyroidism hypothyroidism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002003 MONDO:0002135 True papilledema optic nerve disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002004 MONDO:0005240 True atheroembolism of kidney kidney disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002004 MONDO:0005568 True atheroembolism of kidney cholesterol embolism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002006 MONDO:0002008 True serous labyrinthitis labyrinthitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002008 MONDO:0002467 True labyrinthitis inner ear disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002009 MONDO:0002050 True major depressive disorder depressive disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002010 MONDO:0002254 True FG syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002010 MONDO:0003847 True FG syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002012 MONDO:0000688 True methylmalonic acidemia inborn organic aciduria UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002013 MONDO:0000629 True lymphangioma cardiovascular organ benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0002013 MONDO:0036870 True lymphangioma lymphatic vessel neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002027 MONDO:0002028 True avoidant personality disorder personality disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002028 MONDO:0002025 True personality disorder psychiatric disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002030 MONDO:0002345 True chronic cervicitis cervicitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002032 MONDO:0021063 True colon carcinoma malignant colon neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002014 MONDO:0006025 True autosomal recessive Ehlers-Danlos syndrome, vascular type autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002016 MONDO:0000412 True benign familial neonatal epilepsy neonatal period electroclinical syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002017 MONDO:0005559 True olivopontocerebellar atrophy neurodegenerative disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002021 MONDO:0002635 True gingival disorder periodontal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002026 MONDO:0002312 True candidiasis opportunistic mycosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002027 MONDO:0002028 True avoidant personality disorder personality disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002028 MONDO:0002025 True personality disorder psychiatric disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002029 MONDO:0002030 True chronic gonorrhea of cervix chronic cervicitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002030 MONDO:0002345 True chronic cervicitis cervicitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002032 MONDO:0021063 True colon carcinoma malignant colon neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0002032 MONDO:0024331 True colon carcinoma colorectal carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0002033 MONDO:0005694 True cecum cancer cecal neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0002033 MONDO:0021063 True cecum cancer malignant colon neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002034 MONDO:0002033 True cecum lymphoma cecum cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002034 MONDO:0002033 True cecum lymphoma cecum cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0002034 MONDO:0002035 True cecum lymphoma colon lymphoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002035 MONDO:0021063 True colon lymphoma malignant colon neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002035 MONDO:0021063 True colon lymphoma malignant colon neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0002035 MONDO:0024656 True colon lymphoma colorectal lymphoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002036 MONDO:0003150 True penile disorder male reproductive system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002038 MONDO:0004993 True head and neck carcinoma carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002038 MONDO:0005627 True head and neck carcinoma head and neck cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002039 MONDO:0002025 True cognitive disorder psychiatric disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002041 MONDO:0005550 True fungal infectious disease infectious disease SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002045 MONDO:0001150 True communicating hydrocephalus hydrocephalus SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002048 MONDO:0002049 True thrombocytopenia due to immune destruction thrombocytopenia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002050 MONDO:0005371 True depressive disorder mood disorder SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002052 MONDO:0004928 True lymphadenitis lymph node disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002055 MONDO:0000620 True benign eccrine breast spiradenoma breast benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002036 MONDO:0003150 True penile disorder male reproductive system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002037 MONDO:0000270 True pleural disorder lower respiratory tract disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002038 MONDO:0004993 True head and neck carcinoma carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002038 MONDO:0005627 True head and neck carcinoma head and neck cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002039 MONDO:0002025 True cognitive disorder psychiatric disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002040 MONDO:0000254 True dermatomycosis cutaneous mycosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002041 MONDO:0005550 True fungal infectious disease infectious disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002042 MONDO:0002043 True mechanical ectropion ectropion UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002043 MONDO:0003382 True ectropion eyelid disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002044 MONDO:0002043 True spastic ectropion ectropion UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002045 MONDO:0001150 True communicating hydrocephalus hydrocephalus SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002046 MONDO:0002491 True alcohol abuse substance abuse UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002047 MONDO:0005100 True pulmonary systemic sclerosis systemic sclerosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002047 MONDO:0005275 True pulmonary systemic sclerosis lung disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002048 MONDO:0002049 True thrombocytopenia due to immune destruction thrombocytopenia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002050 MONDO:0005371 True depressive disorder mood disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002052 MONDO:0004928 True lymphadenitis lymph node disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002055 MONDO:0000620 True benign eccrine breast spiradenoma breast benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0002055 MONDO:0003448 True benign eccrine breast spiradenoma benign spiradenoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002056 MONDO:0000620 True breast fibroadenoma breast benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0002056 MONDO:0021046 True breast fibroadenoma breast fibroepithelial neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002057 MONDO:0000620 True breast leiomyoma breast benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002057 MONDO:0000620 True breast leiomyoma breast benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0002057 MONDO:0001572 True breast leiomyoma leiomyoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002058 MONDO:0000620 True breast adenoma breast benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002058 MONDO:0004972 True breast adenoma adenoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002058 MONDO:0000620 True breast adenoma breast benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002058 MONDO:0004972 True breast adenoma adenoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0002058 MONDO:0036976 True breast adenoma benign epithelial neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002060 MONDO:0002363 True intraductal papilloma papilloma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002061 MONDO:0002488 True intraductal papillary breast neoplasm intraductal breast neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002062 MONDO:0000620 True breast myofibroblastoma breast benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002060 MONDO:0002363 True intraductal papilloma papilloma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002061 MONDO:0002488 True intraductal papillary breast neoplasm intraductal breast neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002062 MONDO:0000620 True breast myofibroblastoma breast benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0002062 MONDO:0040675 True breast myofibroblastoma myofibroblastoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002064 MONDO:0002657 True breast angiomatosis breast disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002065 MONDO:0000620 True benign breast adenomyoepithelioma breast benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002064 MONDO:0001574 True breast angiomatosis capillary disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002064 MONDO:0002657 True breast angiomatosis breast disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002065 MONDO:0000620 True benign breast adenomyoepithelioma breast benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0002065 MONDO:0002066 True benign breast adenomyoepithelioma breast adenomyoepithelioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002066 MONDO:0002483 True breast adenomyoepithelioma breast myoepithelial tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002071 MONDO:0001657 True supratentorial cancer brain cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002066 MONDO:0002483 True breast adenomyoepithelioma breast myoepithelial tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002067 MONDO:0004379 True female breast upper-inner quadrant cancer female breast carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002068 MONDO:0004379 True female breast lower-inner quadrant cancer female breast carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002069 MONDO:0004379 True female breast axillary tail cancer female breast carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002070 MONDO:0002078 True ventricular septal defect heart septal defect UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002071 MONDO:0001657 True supratentorial cancer brain cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0002073 MONDO:0003000 True malignant pineal area germ cell neoplasm central nervous system germ cell tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0002073 MONDO:0003113 True malignant pineal area germ cell neoplasm extragonadal germ cell cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002073 MONDO:0003249 True malignant pineal area germ cell neoplasm pineal gland cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002074 MONDO:0006816 True Behcet syndrome arthropathy arthropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002076 MONDO:0002037 True pneumothorax pleural disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002078 MONDO:0005453 True heart septal defect congenital heart disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002073 MONDO:0003249 True malignant pineal area germ cell neoplasm pineal gland cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002074 MONDO:0006816 True Behcet syndrome arthropathy arthropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002075 MONDO:0002076 True spontaneous tension pneumothorax pneumothorax UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002076 MONDO:0002037 True pneumothorax pleural disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002077 MONDO:0005918 True low implantation of placenta placenta praevia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002078 MONDO:0005453 True heart septal defect congenital heart disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0002082 MONDO:0005070 True endocrine gland neoplasm neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0002082 MONDO:0005151 True endocrine gland neoplasm endocrine system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002083 MONDO:0021058 True Richter syndrome neoplastic syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0002085 MONDO:0005395 True benign shuddering attacks movement disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0002086 MONDO:0002093 True clear cell acanthoma acanthoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002087 MONDO:0004992 True peritoneum cancer cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002087 MONDO:0004992 True peritoneum cancer cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0002087 MONDO:0006901 True peritoneum cancer peritoneal neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002088 MONDO:0006951 True partial retinal vein occlusion retinal vein occlusion UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002089 MONDO:0002311 True retinal vascular occlusion retinal vascular disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002090 MONDO:0002381 True eccrine sweat gland neoplasm sweat gland neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002092 MONDO:0001572 True small intestine leiomyoma leiomyoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002088 MONDO:0006951 True partial retinal vein occlusion retinal vein occlusion UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002089 MONDO:0002311 True retinal vascular occlusion retinal vascular disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002090 MONDO:0002381 True eccrine sweat gland neoplasm sweat gland neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002092 MONDO:0001572 True small intestine leiomyoma leiomyoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0002092 MONDO:0021501 True small intestine leiomyoma benign neoplasm of small intestine UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0002093 MONDO:0024666 True acanthoma benign epithelial skin neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002095 MONDO:0002100 True vascular cancer cardiovascular cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002095 MONDO:0002100 True vascular cancer cardiovascular cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0002095 MONDO:0021080 True vascular cancer blood vessel neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002096 MONDO:0003454 True malignant conjunctival melanoma conjunctival cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002096 MONDO:0003454 True malignant conjunctival melanoma conjunctival cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0002096 MONDO:0006325 True malignant conjunctival melanoma ocular melanoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002098 MONDO:0003569 True facial nerve disorder cranial nerve neuropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002100 MONDO:0004992 True cardiovascular cancer cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002098 MONDO:0003569 True facial nerve disorder cranial nerve neuropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002098 MONDO:0003620 True facial nerve disorder peripheral nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002099 MONDO:0018312 True Histoplasma capsulatum infectious disease histoplasmosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002100 MONDO:0004992 True cardiovascular cancer cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0002100 MONDO:0024757 True cardiovascular cancer cardiovascular neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0002101 MONDO:0002098 True facial nerve neoplasm facial nerve disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0002101 MONDO:0002633 True facial nerve neoplasm cranial nerve neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002102 MONDO:0004748 True cheilitis lip disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002103 MONDO:0002025 True factitious disorder psychiatric disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002102 MONDO:0004748 True cheilitis lip disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002103 MONDO:0002025 True factitious disorder psychiatric disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002104 MONDO:0003117 True conversion disorder somatoform disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002105 MONDO:0001273 True toxic megacolon megacolon UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002106 MONDO:0002467 True labyrinthine unilateral reactive loss inner ear disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002107 MONDO:0002467 True unilateral hyperactive labyrinth inner ear disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0002108 MONDO:0015074 True thyroid cancer thyroid tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0002108 MONDO:0021069 True thyroid cancer malignant endocrine neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0002109 MONDO:0017611 True pituitary cancer pituitary tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0002109 MONDO:0021069 True pituitary cancer malignant endocrine neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0002110 MONDO:0000383 True adrenal rest tumor benign reproductive system neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002112 MONDO:0000650 True benign peritoneal mesothelioma peritoneal benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002112 MONDO:0000650 True benign peritoneal mesothelioma peritoneal benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0002112 MONDO:0006362 True benign peritoneal mesothelioma peritoneal mesothelioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0002113 MONDO:0002087 True peritoneal carcinoma peritoneum cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002113 MONDO:0004993 True peritoneal carcinoma carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0002114 MONDO:0004699 True pancreas lymphoma gastrointestinal lymphoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002114 MONDO:0009831 True pancreas lymphoma malignant pancreatic neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002116 MONDO:0009831 True malignant exocrine pancreas neoplasm malignant pancreatic neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002114 MONDO:0009831 True pancreas lymphoma malignant pancreatic neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002116 MONDO:0009831 True malignant exocrine pancreas neoplasm malignant pancreatic neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0002116 MONDO:0021076 True malignant exocrine pancreas neoplasm pancreatic exocrine neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002117 MONDO:0009831 True pancreas sarcoma malignant pancreatic neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002117 MONDO:0009831 True pancreas sarcoma malignant pancreatic neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0002117 MONDO:0018078 True pancreas sarcoma soft tissue sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002120 MONDO:0004993 True neuroendocrine carcinoma carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002119 MONDO:0000631 True ossifying fibroma bone benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002120 MONDO:0004993 True neuroendocrine carcinoma carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0002120 MONDO:0019496 True neuroendocrine carcinoma neuroendocrine neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0002120 MONDO:0021069 True neuroendocrine carcinoma malignant endocrine neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002122 MONDO:0005244 True neuritis peripheral neuropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002121 MONDO:0001397 True mononeuritis simplex mononeuropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002122 MONDO:0005244 True neuritis peripheral neuropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002123 MONDO:0005557 True calcinosis calcium metabolic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002124 MONDO:0001854 True secondary lacrimal atrophy lacrimal apparatus disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002125 MONDO:0005027 True status epilepticus epilepsy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002127 MONDO:0001556 True urethral stricture urethral obstruction UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002128 MONDO:0003607 True mononeuritis multiplex neuritis of upper limb UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002129 MONDO:0000637 True bone cancer musculoskeletal system cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0002129 MONDO:0019060 True bone cancer bone neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002135 MONDO:0003569 True optic nerve disorder cranial nerve neuropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002140 MONDO:0001402 True vagina sarcoma vaginal cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002130 MONDO:0002121 True upper limb mononeuronitis mononeuritis simplex UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002130 MONDO:0003607 True upper limb mononeuronitis neuritis of upper limb UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002132 MONDO:0002129 True skull cancer bone cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002134 MONDO:0005039 True physiological sexual disorder reproductive system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002135 MONDO:0003569 True optic nerve disorder cranial nerve neuropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002136 MONDO:0002137 True eczematous dermatitis of eyelid noninfectious dermatoses of eyelid UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002137 MONDO:0004785 True noninfectious dermatoses of eyelid blepharitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002138 MONDO:0002137 True allergic contact dermatitis of eyelid noninfectious dermatoses of eyelid UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002139 MONDO:0003409 True sigmoid disease colonic disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002140 MONDO:0001402 True vagina sarcoma vaginal cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0002140 MONDO:0018078 True vagina sarcoma soft tissue sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0002141 MONDO:0002142 True cutaneous undifferentiated pleomorphic sarcoma undifferentiated pleomorphic sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0002141 MONDO:0006414 True cutaneous undifferentiated pleomorphic sarcoma skin sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002142 MONDO:0018078 True undifferentiated pleomorphic sarcoma soft tissue sarcoma UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0002142 MONDO:0018078 True undifferentiated pleomorphic sarcoma soft tissue sarcoma UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0002142 MONDO:0021054 True undifferentiated pleomorphic sarcoma bone sarcoma UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0002143 MONDO:0005744 True vaginal yolk sac tumor yolk sac tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002146 MONDO:0002259 True hypogonadism gonadal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002149 MONDO:0004992 True reproductive system cancer cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002145 MONDO:0002259 True disorder of sexual differentiation gonadal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002145 MONDO:0019755 True disorder of sexual differentiation developmental defect during embryogenesis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0002146 MONDO:0002259 True hypogonadism gonadal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002149 MONDO:0004992 True reproductive system cancer cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0002149 MONDO:0006054 True reproductive system cancer reproductive system neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002153 MONDO:0004907 True telogen effluvium alopecia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002154 MONDO:0002428 True trichomoniasis protozoa infectious disease UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002155 MONDO:0005281 True cholecystitis gallbladder disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002156 MONDO:0002263 True fallopian tube disorder female reproductive system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002158 MONDO:0001416 True fallopian tube cancer female reproductive organ cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002150 MONDO:0003081 True hypothalamic disorder thalamic disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002152 MONDO:0003432 True intermittent squint strabismus UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002153 MONDO:0004907 True telogen effluvium alopecia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002154 MONDO:0002428 True trichomoniasis protozoa infectious disease UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002155 MONDO:0004789 True cholecystitis cholangitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002156 MONDO:0002263 True fallopian tube disorder female reproductive system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002158 MONDO:0001416 True fallopian tube cancer female reproductive organ cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0002158 MONDO:0021092 True fallopian tube cancer fallopian tube neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002159 MONDO:0002158 True fallopian tube leiomyosarcoma fallopian tube cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002159 MONDO:0005058 True fallopian tube leiomyosarcoma leiomyosarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002162 MONDO:0002158 True fallopian tube adenosarcoma fallopian tube cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002159 MONDO:0002158 True fallopian tube leiomyosarcoma fallopian tube cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002159 MONDO:0005058 True fallopian tube leiomyosarcoma leiomyosarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002162 MONDO:0002158 True fallopian tube adenosarcoma fallopian tube cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0002162 MONDO:0005636 True fallopian tube adenosarcoma adenosarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002163 MONDO:0005106 True thymus lipoma lipoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002164 MONDO:0004674 True focal chorioretinitis chorioretinitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0002165 MONDO:0005335 True rectal neoplasm colorectal neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002166 MONDO:0006519 True rectum lymphoma rectal cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002166 MONDO:0006519 True rectum lymphoma rectal cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0002166 MONDO:0024656 True rectum lymphoma colorectal lymphoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002167 MONDO:0006519 True rectum malignant melanoma rectal cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002167 MONDO:0006519 True rectum malignant melanoma rectal cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0002167 MONDO:0045070 True rectum malignant melanoma digestive system melanoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002168 MONDO:0005089 True rectum sarcoma sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002168 MONDO:0006519 True rectum sarcoma rectal cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002168 MONDO:0005089 True rectum sarcoma sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002168 MONDO:0006519 True rectum sarcoma rectal cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0002169 MONDO:0005008 True rectum adenocarcinoma colorectal adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0002169 MONDO:0044937 True rectum adenocarcinoma rectal carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002171 MONDO:0005070 True giant cell tumor neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002172 MONDO:0004866 True otosalpingitis eustachian tube disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002173 MONDO:0003620 True neuroma peripheral nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002170 MONDO:0002172 True chronic eustachian salpingitis otosalpingitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002171 MONDO:0005070 True giant cell tumor neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002172 MONDO:0004866 True otosalpingitis eustachian tube disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002172 MONDO:0005441 True otosalpingitis otitis media UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002174 MONDO:0002175 True preretinal fibrosis degeneration of macula and posterior pole UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002175 MONDO:0003004 True degeneration of macula and posterior pole macular degeneration UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002177 MONDO:0002908 True hyperinsulinism glucose metabolism disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002178 MONDO:0002715 True placenta cancer uterine cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0002178 MONDO:0021218 True placenta cancer placenta neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002187 MONDO:0002263 True vulvar disease female reproductive system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002188 MONDO:0000643 True vulvar nodular hidradenoma vulvar benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002181 MONDO:0002185 True exostosis hyperostosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002182 MONDO:0000592 True communication disorder specific developmental disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002183 MONDO:0002081 True enthesopathy musculoskeletal system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002183 MONDO:0003900 True enthesopathy connective tissue disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002184 MONDO:0002251 True drug-induced hepatitis hepatitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002185 MONDO:0000833 True hyperostosis bone remodeling disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002186 MONDO:0005842 True acute maxillary sinusitis maxillary sinusitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002187 MONDO:0002263 True vulvar disease female reproductive system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002188 MONDO:0000643 True vulvar nodular hidradenoma vulvar benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0002188 MONDO:0002189 True vulvar nodular hidradenoma nodular hidradenoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0002188 MONDO:0021489 True vulvar nodular hidradenoma benign neoplasm of sweat gland UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0002188 MONDO:0024666 True vulvar nodular hidradenoma benign epithelial skin neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002189 MONDO:0002805 True nodular hidradenoma hidradenoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002190 MONDO:0000643 True vulvar syringoma vulvar benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002189 MONDO:0002805 True nodular hidradenoma hidradenoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002190 MONDO:0000643 True vulvar syringoma vulvar benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0002190 MONDO:0002191 True vulvar syringoma syringoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0002190 MONDO:0021489 True vulvar syringoma benign neoplasm of sweat gland UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002191 MONDO:0002381 True syringoma sweat gland neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002191 MONDO:0002381 True syringoma sweat gland neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002192 MONDO:0000643 True vulvar angiokeratoma vulvar benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002193 MONDO:0000626 True Bartholin gland benign neoplasm vestibular gland benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0002194 MONDO:0000643 True vestibular papilloma vulvar benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0002194 MONDO:0001825 True vestibular papilloma squamous papilloma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002194 MONDO:0002195 True vestibular papilloma vulvar squamous neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002194 MONDO:0002195 True vestibular papilloma vulvar squamous neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0002195 MONDO:0002532 True vulvar squamous neoplasm squamous cell neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0002195 MONDO:0021049 True vulvar squamous neoplasm vulvar neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0002196 MONDO:0006807 True perinatal intestinal perforation intestinal perforation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002197 MONDO:0000626 True minor vestibular glands adenoma vestibular gland benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0002197 MONDO:0002198 True minor vestibular glands adenoma vulvar glandular neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002197 MONDO:0004972 True minor vestibular glands adenoma adenoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002197 MONDO:0004972 True minor vestibular glands adenoma adenoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0002197 MONDO:0036976 True minor vestibular glands adenoma benign epithelial neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0002198 MONDO:0021049 True vulvar glandular neoplasm vulvar neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0002198 MONDO:0024276 True vulvar glandular neoplasm glandular cell neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002199 MONDO:0000643 True benign mixed tumor of the vulva vulvar benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002199 MONDO:0000643 True benign mixed tumor of the vulva vulvar benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002200 MONDO:0002090 True eccrine mixed tumor of skin eccrine sweat gland neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0002200 MONDO:0021043 True eccrine mixed tumor of skin mixed neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002201 MONDO:0000643 True vulvar trichoepithelioma vulvar benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002201 MONDO:0000643 True vulvar trichoepithelioma vulvar benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0002201 MONDO:0020593 True vulvar trichoepithelioma trichoblastoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0002202 MONDO:0002203 True outlet dysfunction constipation constipation disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002205 MONDO:0001528 True vulvar melanoma vulva cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002205 MONDO:0001528 True vulvar melanoma vulva cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0002205 MONDO:0006320 True vulvar melanoma non-cutaneous melanoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0002206 MONDO:0002381 True sweat gland cancer sweat gland neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002206 MONDO:0002898 True sweat gland cancer skin cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002206 MONDO:0002898 True sweat gland cancer skin cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0002207 MONDO:0008177 True vulval Paget disease extramammary Paget disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002207 MONDO:0024336 True vulval Paget disease vulvar adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002211 MONDO:0021094 True B cell deficiency immunodeficiency disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002214 MONDO:0001657 True brain germinoma brain cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002207 MONDO:0024336 True vulval Paget disease vulvar adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002209 MONDO:0002181 True heel spur exostosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002211 MONDO:0003778 True B cell deficiency inborn error of immunity UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002212 MONDO:0018077 True pneumonic tularemia tularemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002214 MONDO:0001657 True brain germinoma brain cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0002214 MONDO:0002999 True brain germinoma central nervous system germinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002216 MONDO:0001657 True brain sarcoma brain cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002216 MONDO:0001657 True brain sarcoma brain cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0002216 MONDO:0002217 True brain sarcoma central nervous system sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002217 MONDO:0002714 True central nervous system sarcoma central nervous system cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002217 MONDO:0002714 True central nervous system sarcoma central nervous system cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0002217 MONDO:0018078 True central nervous system sarcoma soft tissue sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0002218 MONDO:0002731 True temporal lobe cancer cerebral hemisphere cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002220 MONDO:0006999 True tooth hard tissue disease tooth disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0002221 MONDO:0004041 True urethral urothelial papilloma urothelial papilloma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002221 MONDO:0004177 True urethral urothelial papilloma benign urethral neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002222 MONDO:0001572 True urethra leiomyoma leiomyoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002222 MONDO:0004177 True urethra leiomyoma benign urethral neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002221 MONDO:0004177 True urethral urothelial papilloma benign urethral neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002222 MONDO:0001572 True urethra leiomyoma leiomyoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002222 MONDO:0004177 True urethra leiomyoma benign urethral neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0002223 MONDO:0006292 True ovarian malignant mesothelioma malignant mesothelioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002223 MONDO:0008170 True ovarian malignant mesothelioma ovarian cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002225 MONDO:0008170 True ovarian sarcoma ovarian cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002223 MONDO:0008170 True ovarian malignant mesothelioma ovarian cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002224 MONDO:0008170 True malignant ovarian cyst ovarian cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002225 MONDO:0008170 True ovarian sarcoma ovarian cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0002225 MONDO:0018078 True ovarian sarcoma soft tissue sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002227 MONDO:0005062 True ovarian lymphoma lymphoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002227 MONDO:0008170 True ovarian lymphoma ovarian cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002226 MONDO:0006002 True tuberculous oophoritis urogenital tuberculosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002227 MONDO:0005062 True ovarian lymphoma lymphoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002227 MONDO:0008170 True ovarian lymphoma ovarian cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0002229 MONDO:0005626 True ovarian epithelial tumor epithelial neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0002229 MONDO:0021068 True ovarian epithelial tumor ovarian neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0002230 MONDO:0006058 True ovarian Wilms tumor Wilms tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002230 MONDO:0008170 True ovarian Wilms tumor ovarian cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002234 MONDO:0001433 True vaginitis vaginal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002235 MONDO:0003382 True eyelid neoplasm eyelid disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002230 MONDO:0008170 True ovarian Wilms tumor ovarian cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002232 MONDO:0002436 True nasal cavity disorder nasal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002232 MONDO:0004867 True nasal cavity disorder upper respiratory tract disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002233 MONDO:0005276 True enamel caries dental caries UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002234 MONDO:0001433 True vaginitis vaginal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002235 MONDO:0002531 True eyelid neoplasm skin neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002235 MONDO:0003382 True eyelid neoplasm eyelid disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0002235 MONDO:0021220 True eyelid neoplasm eye neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0002236 MONDO:0000649 True ocular cancer sensory system cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0002236 MONDO:0021220 True ocular cancer eye neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002242 MONDO:0001531 True coagulation protein disease blood coagulation disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002243 MONDO:0005570 True hemorrhagic disease hematologic disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002245 MONDO:0005570 True blood platelet disease hematologic disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002247 MONDO:0002242 True factor X deficiency coagulation protein disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002250 MONDO:0002254 True basilar artery insufficiency syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002251 MONDO:0005154 True hepatitis liver disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002252 MONDO:0002251 True granulomatous hepatitis hepatitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002256 MONDO:0002654 True cervix disorder uterine disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002259 MONDO:0005039 True gonadal disorder reproductive system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002261 MONDO:0000942 True keratopathy corneal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002263 MONDO:0005039 True female reproductive system disorder reproductive system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002269 MONDO:0021166 True gastroenteritis inflammatory disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002270 MONDO:0004966 True viral gastritis gastritis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002270 MONDO:0005108 True viral gastritis viral infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002270 MONDO:0043424 True viral gastritis digestive system infectious disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002271 MONDO:0002032 True colon adenocarcinoma colon carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002237 MONDO:0002922 True carbuncle pyoderma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002238 MONDO:0021063 True ascending colon cancer malignant colon neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002239 MONDO:0001933 True post-surgical hypoinsulinemia endocrine pancreas disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002240 MONDO:0002246 True acute perichondritis of pinna perichondritis of auricle UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002243 MONDO:0005570 True hemorrhagic disease hematologic disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002246 MONDO:0004795 True perichondritis of auricle otitis externa UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002250 MONDO:0000473 True basilar artery insufficiency arterial disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002250 MONDO:0002254 True basilar artery insufficiency syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002251 MONDO:0005154 True hepatitis liver disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002252 MONDO:0002251 True granulomatous hepatitis hepatitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002253 MONDO:0000836 True spondylosis disease of bone structure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002255 MONDO:0002256 True hypertrophic elongation of cervix cervix disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002256 MONDO:0002654 True cervix disorder uterine disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002257 MONDO:0006816 True ankylosis arthropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002258 MONDO:0004867 True pharyngitis upper respiratory tract disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002259 MONDO:0005151 True gonadal disorder endocrine system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002261 MONDO:0000942 True keratopathy corneal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002262 MONDO:0001574 True capillary lymphangioma capillary disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002262 MONDO:0002013 True capillary lymphangioma lymphangioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002262 MONDO:0024286 True capillary lymphangioma benign blood vessel neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002263 MONDO:0005039 True female reproductive system disorder reproductive system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002265 MONDO:0000592 True stereotypic movement disorder specific developmental disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002266 MONDO:0017853 True malt worker's lung hypersensitivity pneumonitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002267 MONDO:0005275 True obstructive lung disease lung disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002270 MONDO:0004966 True viral gastritis gastritis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002270 MONDO:0005108 True viral gastritis viral infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002271 MONDO:0002032 True colon adenocarcinoma colon carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0002271 MONDO:0005008 True colon adenocarcinoma colorectal adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002275 MONDO:0005311 True generalized atherosclerosis atherosclerosis SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002277 MONDO:0000473 True arteriosclerosis disorder arterial disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002272 MONDO:0002273 True polyclonal hypergammaglobulinemia plasma protein metabolism disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002273 MONDO:0019052 True plasma protein metabolism disease inborn errors of metabolism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002274 MONDO:0002273 True monoclonal paraproteinemia disease plasma protein metabolism disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002275 MONDO:0005311 True generalized atherosclerosis atherosclerosis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002277 MONDO:0000473 True arteriosclerosis disorder arterial disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0002278 MONDO:0005401 True benign colon neoplasm colonic neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0002278 MONDO:0021444 True benign colon neoplasm benign neoplasm of large intestine UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0002279 MONDO:0000226 True iron metabolism disease mineral metabolism disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002280 MONDO:0005570 True anemia hematologic disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002281 MONDO:0002280 True macrocytic anemia anemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002287 MONDO:0006030 True glandular cystitis chronic cystitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002289 MONDO:0002661 True iris disorder uveal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002290 MONDO:0001528 True clitoris cancer vulva cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002280 MONDO:0005570 True anemia hematologic disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002281 MONDO:0002280 True macrocytic anemia anemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002287 MONDO:0006030 True glandular cystitis chronic cystitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002289 MONDO:0002661 True iris disorder uveal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002290 MONDO:0001528 True clitoris cancer vulva cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0002291 MONDO:0002300 True cutaneous granular cell tumor dermis tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0002291 MONDO:0006235 True cutaneous granular cell tumor granular cell tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0002293 MONDO:0005033 True cutaneous ganglioneuroma ganglioneuroma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0002295 MONDO:0002300 True skin glomus tumor dermis tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002295 MONDO:0018327 True skin glomus tumor glomus tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002297 MONDO:0002531 True epidermal appendage tumor skin neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002295 MONDO:0018327 True skin glomus tumor glomus tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002297 MONDO:0002531 True epidermal appendage tumor skin neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0002298 MONDO:0002295 True cutaneous glomangioma skin glomus tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002298 MONDO:0002299 True cutaneous glomangioma glomangioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002298 MONDO:0002299 True cutaneous glomangioma glomangioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0002299 MONDO:0018327 True glomangioma glomus tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002300 MONDO:0002531 True dermis tumor skin neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002301 MONDO:0001756 True frontal sinus squamous cell carcinoma frontal sinus cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002300 MONDO:0002531 True dermis tumor skin neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002301 MONDO:0001756 True frontal sinus squamous cell carcinoma frontal sinus cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0002301 MONDO:0044705 True frontal sinus squamous cell carcinoma paranasal sinus squamous cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002303 MONDO:0006951 True central retinal vein occlusion retinal vein occlusion UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002304 MONDO:0002305 True protein S deficiency thrombophilia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002305 MONDO:0001531 True thrombophilia blood coagulation disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002308 MONDO:0002309 True giant papillary conjunctivitis papillary conjunctivitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002309 MONDO:0003799 True papillary conjunctivitis conjunctivitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002311 MONDO:0005283 True retinal vascular disorder retinal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002311 MONDO:0005552 True retinal vascular disorder ocular vascular disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002313 MONDO:0002314 True vernal conjunctivitis chronic conjunctivitis SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002314 MONDO:0003799 True chronic conjunctivitis conjunctivitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002316 MONDO:0005244 True motor peripheral neuropathy peripheral neuropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002318 MONDO:0001572 True trachea leiomyoma leiomyoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002303 MONDO:0004634 True central retinal vein occlusion vein disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002303 MONDO:0006951 True central retinal vein occlusion retinal vein occlusion UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002304 MONDO:0002305 True protein S deficiency thrombophilia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002305 MONDO:0001531 True thrombophilia blood coagulation disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002306 MONDO:0002307 True angular blepharoconjunctivitis blepharoconjunctivitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002307 MONDO:0004785 True blepharoconjunctivitis blepharitis UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002308 MONDO:0002309 True giant papillary conjunctivitis papillary conjunctivitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002309 MONDO:0003799 True papillary conjunctivitis conjunctivitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002310 MONDO:0005328 True anterior dislocation of lens eye disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002311 MONDO:0005283 True retinal vascular disorder retinal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002312 MONDO:0002041 True opportunistic mycosis fungal infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002313 MONDO:0002314 True vernal conjunctivitis chronic conjunctivitis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002314 MONDO:0003799 True chronic conjunctivitis conjunctivitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002316 MONDO:0005244 True motor peripheral neuropathy peripheral neuropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002317 MONDO:0005560 True central nervous system origin vertigo brain disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002318 MONDO:0001572 True trachea leiomyoma leiomyoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0002318 MONDO:0021517 True trachea leiomyoma benign neoplasm of trachea UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0002319 MONDO:0000226 True phosphorus metabolism disease mineral metabolism disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002320 MONDO:0005071 True congenital nervous system disorder nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002321 MONDO:0005244 True sensory peripheral neuropathy peripheral neuropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002320 MONDO:0005071 True congenital nervous system disorder nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002321 MONDO:0005244 True sensory peripheral neuropathy peripheral neuropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002322 MONDO:0005385 True angiodysplasia vascular disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0002323 MONDO:0002407 True cherry hemangioma capillary hemangioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0002323 MONDO:0003110 True cherry hemangioma skin hemangioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002327 MONDO:0002328 True intracranial cavernous angioma intracranial hemangioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002325 MONDO:0006999 True tooth erosion, non-bacterial tooth disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002327 MONDO:0002328 True intracranial cavernous angioma intracranial hemangioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0002327 MONDO:0003155 True intracranial cavernous angioma cavernous hemangioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002329 MONDO:0003150 True testicular disorder male reproductive system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002329 MONDO:0002259 True testicular disorder gonadal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002329 MONDO:0003150 True testicular disorder male reproductive system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002330 MONDO:0002326 True alcoholic psychosis alcohol-induced mental disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002330 MONDO:0005485 True alcoholic psychosis psychotic disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002331 MONDO:0005240 True nephrosis kidney disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0002332 MONDO:0005570 True splenic disorder hematologic disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002333 MONDO:0002332 True splenic abscess splenic disorder SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002333 MONDO:0005227 True splenic abscess abscess UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002334 MONDO:0005070 True hematopoietic and lymphoid system neoplasm neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002335 MONDO:0003334 True chronic inflammatory demyelinating polyneuritis demyelinating polyneuropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002337 MONDO:0006500 True intra-abdominal hemangioma hemangioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002338 MONDO:0005027 True extratemporal epilepsy epilepsy UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002340 MONDO:0017768 True tactile epilepsy reflex epilepsy UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002341 MONDO:0043494 True granulomatous angiitis arteritis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0002332 MONDO:0005833 True splenic disorder lymphatic system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002333 MONDO:0002332 True splenic abscess splenic disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002334 MONDO:0005070 True hematopoietic and lymphoid system neoplasm neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002334 MONDO:0005570 True hematopoietic and lymphoid system neoplasm hematologic disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002337 MONDO:0006500 True intra-abdominal hemangioma hemangioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002338 MONDO:0005027 True extratemporal epilepsy epilepsy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002340 MONDO:0017768 True tactile epilepsy reflex epilepsy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002342 MONDO:0003816 True chondromalacia articular cartilage disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0002343 MONDO:0002337 True splenic hemangioma intra-abdominal hemangioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0002343 MONDO:0021500 True splenic hemangioma benign neoplasm of spleen UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002345 MONDO:0002256 True cervicitis cervix disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002350 MONDO:0005377 True familial nephrotic syndrome nephrotic syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002351 MONDO:0002352 True glottis cancer larynx cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002345 MONDO:0002256 True cervicitis cervix disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002347 MONDO:0005303 True barbiturate dependence drug dependence UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002350 MONDO:0005377 True familial nephrotic syndrome nephrotic syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002351 MONDO:0002352 True glottis cancer larynx cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0002351 MONDO:0002353 True glottis cancer glottis neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002352 MONDO:0000376 True larynx cancer respiratory system cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0002352 MONDO:0021071 True larynx cancer laryngeal neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0002353 MONDO:0021071 True glottis neoplasm laryngeal neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0002354 MONDO:0000382 True benign laryngeal neoplasm respiratory system benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0002354 MONDO:0021071 True benign laryngeal neoplasm laryngeal neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002355 MONDO:0002351 True glottis carcinoma glottis cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002355 MONDO:0002351 True glottis carcinoma glottis cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0002355 MONDO:0002358 True glottis carcinoma laryngeal carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002356 MONDO:0004335 True pancreas disorder digestive system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002358 MONDO:0002352 True laryngeal carcinoma larynx cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002358 MONDO:0004993 True laryngeal carcinoma carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002356 MONDO:0005151 True pancreas disorder endocrine system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002357 MONDO:0002238 True hepatic flexure cancer ascending colon cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002358 MONDO:0002352 True laryngeal carcinoma larynx cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002358 MONDO:0004993 True laryngeal carcinoma carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0002359 MONDO:0000631 True periosteal chondroma bone benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002359 MONDO:0002360 True periosteal chondroma chondroma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002359 MONDO:0002360 True periosteal chondroma chondroma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0002360 MONDO:0024470 True chondroma benign chondrogenic neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002362 MONDO:0002363 True serous surface papilloma papilloma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002361 MONDO:0021063 True transverse colon cancer malignant colon neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002362 MONDO:0002363 True serous surface papilloma papilloma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0002363 MONDO:0021096 True papilloma papillary epithelial neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0002363 MONDO:0036976 True papilloma benign epithelial neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0002365 MONDO:0005094 True kidney hemangiopericytoma hemangiopericytoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002366 MONDO:0001406 True autonomic nervous system neoplasm peripheral nervous system neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002367 MONDO:0006295 True kidney cancer malignant urinary system neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002366 MONDO:0001406 True autonomic nervous system neoplasm peripheral nervous system neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002367 MONDO:0006295 True kidney cancer malignant urinary system neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0002367 MONDO:0021163 True kidney cancer kidney neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0002368 MONDO:0005074 True papillary serous cystadenocarcinoma papillary cystadenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0002368 MONDO:0024621 True papillary serous cystadenocarcinoma serous cystadenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0002369 MONDO:0004972 True cystadenoma adenoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0002369 MONDO:0021077 True cystadenoma cystic neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0002369 MONDO:0024276 True cystadenoma glandular cell neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0002370 MONDO:0002229 True ovarian Brenner tumor ovarian epithelial tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0002370 MONDO:0024235 True ovarian Brenner tumor Brenner tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002371 MONDO:0002056 True breast pericanalicular fibroadenoma breast fibroadenoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002372 MONDO:0003331 True ovarian monodermal and highly specialized teratoma ovarian monodermal teratoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002371 MONDO:0002056 True breast pericanalicular fibroadenoma breast fibroadenoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002372 MONDO:0003331 True ovarian monodermal and highly specialized teratoma ovarian monodermal teratoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002373 MONDO:0005165 True benign mesothelioma benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0002375 MONDO:0004972 True sebaceous adenoma adenoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002375 MONDO:0006963 True sebaceous adenoma sebaceous gland neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002375 MONDO:0006963 True sebaceous adenoma sebaceous gland neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0002375 MONDO:0021634 True sebaceous adenoma epithelial skin neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002376 MONDO:0005966 True spleen angiosarcoma spleen cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002376 MONDO:0016982 True spleen angiosarcoma angiosarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002377 MONDO:0002056 True breast intracanalicular fibroadenoma breast fibroadenoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002378 MONDO:0002379 True dermoid cyst cystic teratoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002376 MONDO:0005966 True spleen angiosarcoma spleen cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002376 MONDO:0016982 True spleen angiosarcoma angiosarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002377 MONDO:0002056 True breast intracanalicular fibroadenoma breast fibroadenoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002378 MONDO:0002379 True dermoid cyst cystic teratoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0002379 MONDO:0002601 True cystic teratoma teratoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0002381 MONDO:0002297 True sweat gland neoplasm epidermal appendage tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002381 MONDO:0006615 True sweat gland neoplasm sweat gland disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0002382 MONDO:0006854 True benign mesenchymoma mesenchymoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002383 MONDO:0016755 True Pacinian tumor neurofibroma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002383 MONDO:0016755 True Pacinian tumor neurofibroma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002385 MONDO:0002513 True benign cystic nephroma kidney benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0002386 MONDO:0021163 True mixed epithelial stromal tumor of the kidney kidney neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0002387 MONDO:0002397 True liver angiosarcoma liver sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002387 MONDO:0002405 True liver angiosarcoma hepatic vascular disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002387 MONDO:0016982 True liver angiosarcoma angiosarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002395 MONDO:0002513 True renal adenoma kidney benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002395 MONDO:0004972 True renal adenoma adenoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002396 MONDO:0002513 True nephrogenic adenofibroma kidney benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002387 MONDO:0002405 True liver angiosarcoma hepatic vascular disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002387 MONDO:0016982 True liver angiosarcoma angiosarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002395 MONDO:0002513 True renal adenoma kidney benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002395 MONDO:0004972 True renal adenoma adenoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002396 MONDO:0002513 True nephrogenic adenofibroma kidney benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0002396 MONDO:0021045 True nephrogenic adenofibroma fibroepithelial neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002397 MONDO:0002691 True liver sarcoma liver cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002397 MONDO:0002691 True liver sarcoma liver cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0002397 MONDO:0018078 True liver sarcoma soft tissue sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002398 MONDO:0006071 True mucinous adenofibroma adenofibroma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002398 MONDO:0006071 True mucinous adenofibroma adenofibroma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0002398 MONDO:0024338 True mucinous adenofibroma mucinous neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0002399 MONDO:0002522 True tenosynovial giant cell tumor, localized type tenosynovial giant cell tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0002399 MONDO:0024715 True tenosynovial giant cell tumor, localized type benign synovial neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0002400 MONDO:0003900 True synovitis connective tissue disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0002401 MONDO:0002402 True malignant tenosynovial giant cell tumor malignant giant cell tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002401 MONDO:0002403 True malignant tenosynovial giant cell tumor synovium cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002401 MONDO:0002403 True malignant tenosynovial giant cell tumor synovium cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0002401 MONDO:0002522 True malignant tenosynovial giant cell tumor tenosynovial giant cell tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002402 MONDO:0004992 True malignant giant cell tumor cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002402 MONDO:0004992 True malignant giant cell tumor cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002403 MONDO:0000637 True synovium cancer musculoskeletal system cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0002403 MONDO:0002528 True synovium cancer synovium neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002404 MONDO:0000385 True liver hemangioma benign digestive system neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002404 MONDO:0000385 True liver hemangioma benign digestive system neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002404 MONDO:0000627 True liver hemangioma benign endocrine neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0002404 MONDO:0002337 True liver hemangioma intra-abdominal hemangioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002404 MONDO:0024477 True liver hemangioma liver and intrahepatic bile duct neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002405 MONDO:0005154 True hepatic vascular disorder liver disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002405 MONDO:0005385 True hepatic vascular disorder vascular disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002406 MONDO:0005093 True dermatitis skin disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002407 MONDO:0006500 True capillary hemangioma hemangioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002411 MONDO:0002028 True narcissistic personality disorder personality disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002413 MONDO:0002412 True glycogen storage disease I disorder of glycogen metabolism SUPPORTED UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002404 MONDO:0024477 True liver hemangioma liver and intrahepatic bile duct neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002405 MONDO:0005154 True hepatic vascular disorder liver disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002405 MONDO:0005385 True hepatic vascular disorder vascular disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002406 MONDO:0005093 True dermatitis skin disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002407 MONDO:0006500 True capillary hemangioma hemangioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002410 MONDO:0006938 True pyeloureteritis cystica pyelitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002411 MONDO:0002028 True narcissistic personality disorder personality disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002412 MONDO:0019214 True disorder of glycogen metabolism inborn carbohydrate metabolic disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002413 MONDO:0002412 True glycogen storage disease I disorder of glycogen metabolism SUPPORTED SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0002414 MONDO:0002337 True gastric hemangioma intra-abdominal hemangioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0002414 MONDO:0021449 True gastric hemangioma benign neoplasm of stomach UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002416 MONDO:0001763 True ethmoid sinus squamous cell carcinoma ethmoid sinus cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002415 MONDO:0002129 True bone carcinoma bone cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002415 MONDO:0004993 True bone carcinoma carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002416 MONDO:0001763 True ethmoid sinus squamous cell carcinoma ethmoid sinus cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0002416 MONDO:0044705 True ethmoid sinus squamous cell carcinoma paranasal sinus squamous cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002418 MONDO:0001763 True ethmoid sinus adenocarcinoma ethmoid sinus cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002418 MONDO:0004970 True ethmoid sinus adenocarcinoma adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002419 MONDO:0005395 True transient tic disorder movement disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002424 MONDO:0002425 True rectosigmoid carcinoma rectosigmoid junction cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002418 MONDO:0001763 True ethmoid sinus adenocarcinoma ethmoid sinus cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002418 MONDO:0004970 True ethmoid sinus adenocarcinoma adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002419 MONDO:0002420 True transient tic disorder tic disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002420 MONDO:0000592 True tic disorder specific developmental disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002423 MONDO:0006971 True rectosigmoid junction neoplasm sigmoid neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002424 MONDO:0002425 True rectosigmoid carcinoma rectosigmoid junction cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002425 MONDO:0001464 True rectosigmoid junction cancer sigmoid colon cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0002425 MONDO:0002423 True rectosigmoid junction cancer rectosigmoid junction neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002426 MONDO:0008903 True lung sarcoma lung cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002426 MONDO:0008903 True lung sarcoma lung cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0002426 MONDO:0018078 True lung sarcoma soft tissue sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002428 MONDO:0005135 True protozoa infectious disease parasitic infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002429 MONDO:0005249 True idiopathic interstitial pneumonia pneumonia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002432 MONDO:0002433 True malignant neoplasm of acoustic nerve malignant cranial nerve neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002427 MONDO:0005560 True cerebellar disorder brain disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002428 MONDO:0005135 True protozoa infectious disease parasitic infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002429 MONDO:0005249 True idiopathic interstitial pneumonia pneumonia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002432 MONDO:0002433 True malignant neoplasm of acoustic nerve malignant cranial nerve neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002432 MONDO:0004532 True malignant neoplasm of acoustic nerve auditory system cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0002432 MONDO:0021221 True malignant neoplasm of acoustic nerve vestibulocochlear nerve neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0002433 MONDO:0002633 True malignant cranial nerve neoplasm cranial nerve neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002434 MONDO:0002433 True oculomotor nerve cancer malignant cranial nerve neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002434 MONDO:0002435 True oculomotor nerve cancer oculomotor nerve neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002434 MONDO:0002433 True oculomotor nerve cancer malignant cranial nerve neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002434 MONDO:0002435 True oculomotor nerve cancer oculomotor nerve neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0002435 MONDO:0002633 True oculomotor nerve neoplasm cranial nerve neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002435 MONDO:0003546 True oculomotor nerve neoplasm third cranial nerve disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002442 MONDO:0002254 True long QT syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002444 MONDO:0002050 True melancholia depressive disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002447 MONDO:0011962 True endometrial carcinoma endometrial cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002448 MONDO:0002352 True laryngeal sarcoma larynx cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002435 MONDO:0003546 True oculomotor nerve neoplasm third cranial nerve disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002438 MONDO:0005571 True acquired polycythemia polycythemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002441 MONDO:0019171 True Jervell and Lange-Nielsen syndrome familial long QT syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0002443 MONDO:0003406 True bruxism sleep-wake disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002447 MONDO:0011962 True endometrial carcinoma endometrial cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002448 MONDO:0002352 True laryngeal sarcoma larynx cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002449 MONDO:0001515 True nodular degeneration of cornea corneal degeneration UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0002450 MONDO:0004972 True prostatic adenoma adenoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0002450 MONDO:0021510 True prostatic adenoma benign neoplasm of prostate UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0002450 MONDO:0036976 True prostatic adenoma benign epithelial neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0002451 MONDO:0021102 True benign prostate phyllodes tumor prostate phyllodes tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0002451 MONDO:0021510 True benign prostate phyllodes tumor benign neoplasm of prostate UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0002451 MONDO:0037002 True benign prostate phyllodes tumor benign phyllodes tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002452 MONDO:0001572 True prostate leiomyoma leiomyoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002452 MONDO:0001572 True prostate leiomyoma leiomyoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0002452 MONDO:0021510 True prostate leiomyoma benign neoplasm of prostate UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002455 MONDO:0005131 True exocervical carcinoma cervical carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002457 MONDO:0002254 True Treacher-Collins syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002459 MONDO:0000605 True type IV hypersensitivity disease hypersensitivity reaction disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002460 MONDO:0001854 True lacrimal system cancer lacrimal apparatus disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002461 MONDO:0002462 True membranoproliferative glomerulonephritis glomerulonephritis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002462 MONDO:0001166 True glomerulonephritis nephritis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002463 MONDO:0002464 True lacrimal gland carcinoma lacrimal gland cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002453 MONDO:0002409 True retrocochlear disease auditory system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002455 MONDO:0005131 True exocervical carcinoma cervical carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002457 MONDO:0000426 True Treacher-Collins syndrome autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002457 MONDO:0002254 True Treacher-Collins syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002457 MONDO:0015161 True Treacher-Collins syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0002457 MONDO:0015483 True Treacher-Collins syndrome mandibulofacial dysostosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0002457 MONDO:0018751 True Treacher-Collins syndrome hereditary otorhinolaryngologic disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0002459 MONDO:0000605 True type IV hypersensitivity disease hypersensitivity reaction disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002460 MONDO:0001854 True lacrimal system cancer lacrimal apparatus disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002460 MONDO:0002236 True lacrimal system cancer ocular cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002461 MONDO:0002462 True membranoproliferative glomerulonephritis glomerulonephritis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002462 MONDO:0001166 True glomerulonephritis nephritis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002463 MONDO:0002464 True lacrimal gland carcinoma lacrimal gland cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0002463 MONDO:0002466 True lacrimal gland carcinoma eye carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002464 MONDO:0002460 True lacrimal gland cancer lacrimal system cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002464 MONDO:0002460 True lacrimal gland cancer lacrimal system cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0002464 MONDO:0021222 True lacrimal gland cancer lacrimal gland neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002465 MONDO:0005275 True bronchiolitis lung disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002466 MONDO:0002236 True eye carcinoma ocular cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002467 MONDO:0002409 True inner ear disorder auditory system disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002467 MONDO:0021205 True inner ear disorder disorder of ear UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0002465 MONDO:0005275 True bronchiolitis lung disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002466 MONDO:0002236 True eye carcinoma ocular cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002467 MONDO:0002409 True inner ear disorder auditory system disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002468 MONDO:0002211 True hyperimmunoglobulin syndrome B cell deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0002469 MONDO:0002463 True lacrimal gland carcinoma ex pleomorphic adenoma lacrimal gland carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0002469 MONDO:0002472 True lacrimal gland carcinoma ex pleomorphic adenoma carcinoma ex pleomorphic adenoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0002470 MONDO:0018053 True photosensitive trichothiodystrophy trichothiodystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002471 MONDO:0006816 True bursitis arthropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0002472 MONDO:0004993 True carcinoma ex pleomorphic adenoma carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0002472 MONDO:0005853 True carcinoma ex pleomorphic adenoma malignant mixed neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002473 MONDO:0005240 True cystic kidney disease kidney disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002475 MONDO:0002463 True lacrimal gland adenocarcinoma lacrimal gland carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002475 MONDO:0004970 True lacrimal gland adenocarcinoma adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002477 MONDO:0019496 True prostate neuroendocrine neoplasm neuroendocrine neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002473 MONDO:0005240 True cystic kidney disease kidney disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002474 MONDO:0019214 True primary hyperoxaluria inborn carbohydrate metabolic disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002475 MONDO:0002463 True lacrimal gland adenocarcinoma lacrimal gland carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002475 MONDO:0004970 True lacrimal gland adenocarcinoma adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002476 MONDO:0005240 True anuria kidney disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002477 MONDO:0019496 True prostate neuroendocrine neoplasm neuroendocrine neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0002477 MONDO:0021259 True prostate neuroendocrine neoplasm prostate neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0002478 MONDO:0021043 True mixed germ cell-sex cord-stromal tumor mixed neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0002480 MONDO:0005626 True endometrioid tumor epithelial neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002481 MONDO:0019496 True ovarian neuroendocrine neoplasm neuroendocrine neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002481 MONDO:0008170 True ovarian neuroendocrine neoplasm ovarian cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002481 MONDO:0019496 True ovarian neuroendocrine neoplasm neuroendocrine neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002481 MONDO:0021069 True ovarian neuroendocrine neoplasm malignant endocrine neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0002482 MONDO:0021100 True nipple neoplasm breast neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0002483 MONDO:0002380 True breast myoepithelial tumor myoepithelial tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0002483 MONDO:0021100 True breast myoepithelial tumor breast neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0002485 MONDO:0019496 True breast neuroendocrine neoplasm neuroendocrine neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0002485 MONDO:0021100 True breast neuroendocrine neoplasm breast neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0002486 MONDO:0004658 True lobular neoplasia breast carcinoma in situ UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0002487 MONDO:0006235 True breast granular cell tumor granular cell tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0002487 MONDO:0021100 True breast granular cell tumor breast neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0002488 MONDO:0021100 True intraductal breast neoplasm breast neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002489 MONDO:0007254 True malignant breast phyllodes tumor breast cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002489 MONDO:0007254 True malignant breast phyllodes tumor breast cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0002489 MONDO:0021047 True malignant breast phyllodes tumor breast phyllodes tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0002489 MONDO:0037003 True malignant breast phyllodes tumor malignant phyllodes tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002490 MONDO:0007254 True breast sarcoma breast cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002490 MONDO:0007254 True breast sarcoma breast cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0002490 MONDO:0018078 True breast sarcoma soft tissue sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002492 MONDO:0001106 True acute kidney failure kidney failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002491 MONDO:0002494 True substance abuse substance-related disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002492 MONDO:0001106 True acute kidney failure kidney failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0002493 MONDO:0004965 True prostatic acinar adenocarcinoma acinar cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002493 MONDO:0005082 True prostatic acinar adenocarcinoma prostate adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002494 MONDO:0002025 True substance-related disorder psychiatric disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002495 MONDO:0002271 True colon signet ring cell adenocarcinoma colon adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002493 MONDO:0005082 True prostatic acinar adenocarcinoma prostate adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002494 MONDO:0002025 True substance-related disorder psychiatric disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002495 MONDO:0002271 True colon signet ring cell adenocarcinoma colon adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0002495 MONDO:0044336 True colon signet ring cell adenocarcinoma colorectal signet ring cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002496 MONDO:0002271 True submucosal invasive colon adenocarcinoma colon adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002496 MONDO:0002271 True submucosal invasive colon adenocarcinoma colon adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0002496 MONDO:0040677 True submucosal invasive colon adenocarcinoma invasive carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0002501 MONDO:0005499 True brain glioblastoma brain glioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0002501 MONDO:0018177 True brain glioblastoma glioblastoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002503 MONDO:0021636 True adult astrocytic tumor astrocytic tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002503 MONDO:0021636 True adult astrocytic tumor astrocytic tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0002505 MONDO:0021079 True childhood astrocytic tumor childhood neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002505 MONDO:0021636 True childhood astrocytic tumor astrocytic tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002508 MONDO:0002021 True gingivitis gingival disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002509 MONDO:0006882 True non-specific granulomatous orchitis orchitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002512 MONDO:0004970 True papillary adenocarcinoma adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002505 MONDO:0021636 True childhood astrocytic tumor astrocytic tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002507 MONDO:0002021 True gingival overgrowth gingival disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002508 MONDO:0002021 True gingivitis gingival disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002511 MONDO:0001854 True stenosis of lacrimal sac lacrimal apparatus disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002512 MONDO:0004970 True papillary adenocarcinoma adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0002512 MONDO:0006509 True papillary adenocarcinoma papillary carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002513 MONDO:0004180 True kidney benign neoplasm benign urinary system neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002513 MONDO:0004180 True kidney benign neoplasm benign urinary system neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0002513 MONDO:0021163 True kidney benign neoplasm kidney neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0002514 MONDO:0002515 True hepatobiliary neoplasm hepatobiliary disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0002514 MONDO:0021223 True hepatobiliary neoplasm digestive system neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002515 MONDO:0004335 True hepatobiliary disorder digestive system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002516 MONDO:0004335 True digestive system cancer digestive system disorder UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002516 MONDO:0004992 True digestive system cancer cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002515 MONDO:0004335 True hepatobiliary disorder digestive system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002516 MONDO:0004335 True digestive system cancer digestive system disorder UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002516 MONDO:0004992 True digestive system cancer cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0002516 MONDO:0021223 True digestive system cancer digestive system neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0002517 MONDO:0004855 True tenosynovitis of foot and ankle tenosynovitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0002518 MONDO:0021096 True gallbladder papillary neoplasm papillary epithelial neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0002518 MONDO:0021253 True gallbladder papillary neoplasm gallbladder neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002522 MONDO:0002171 True tenosynovial giant cell tumor giant cell tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002519 MONDO:0001593 True anus disorder rectal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002522 MONDO:0002171 True tenosynovial giant cell tumor giant cell tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0002522 MONDO:0002528 True tenosynovial giant cell tumor synovium neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002525 MONDO:0019052 True inherited lipid metabolism disorder inborn errors of metabolism UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002525 MONDO:0019052 True inherited lipid metabolism disorder inborn errors of metabolism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002526 MONDO:0003155 True dermal unilateral segmental cavernous angioma cavernous hemangioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0002527 MONDO:0021634 True keratoacanthoma epithelial skin neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0002528 MONDO:0006424 True synovium neoplasm soft tissue neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002529 MONDO:0002656 True skin squamous cell carcinoma skin carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002529 MONDO:0005096 True skin squamous cell carcinoma squamous cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002531 MONDO:0005070 True skin neoplasm neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002531 MONDO:0005093 True skin neoplasm skin disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002529 MONDO:0002656 True skin squamous cell carcinoma skin carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002529 MONDO:0005096 True skin squamous cell carcinoma squamous cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002531 MONDO:0005070 True skin neoplasm neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002531 MONDO:0005093 True skin neoplasm skin disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0002532 MONDO:0005626 True squamous cell neoplasm epithelial neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002533 MONDO:0004972 True papillary adenoma adenoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002533 MONDO:0004972 True papillary adenoma adenoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0002533 MONDO:0021096 True papillary adenoma papillary epithelial neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002534 MONDO:0000645 True fallopian tube papilloma fallopian tube benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002534 MONDO:0000645 True fallopian tube papilloma fallopian tube benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0002534 MONDO:0002363 True fallopian tube papilloma papilloma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002536 MONDO:0002363 True skin papilloma papilloma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002535 MONDO:0002363 True verrucous papilloma papilloma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002536 MONDO:0002363 True skin papilloma papilloma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0002536 MONDO:0024666 True skin papilloma benign epithelial skin neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002537 MONDO:0002363 True inverted papilloma papilloma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002540 MONDO:0016695 True childhood oligodendroglioma oligodendroglioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002541 MONDO:0002542 True spinal cord oligodendroglioma spinal cord glioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002541 MONDO:0016695 True spinal cord oligodendroglioma oligodendroglioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002543 MONDO:0016695 True adult oligodendroglioma oligodendroglioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002537 MONDO:0002363 True inverted papilloma papilloma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002540 MONDO:0016695 True childhood oligodendroglioma oligodendroglioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002541 MONDO:0002542 True spinal cord oligodendroglioma spinal cord glioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002541 MONDO:0016695 True spinal cord oligodendroglioma oligodendroglioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002542 MONDO:0003544 True spinal cord glioma spinal cord cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002542 MONDO:0100342 True spinal cord glioma malignant glioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002543 MONDO:0016695 True adult oligodendroglioma oligodendroglioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002544 MONDO:0005499 True brain oligodendroglioma brain glioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0002544 MONDO:0016695 True brain oligodendroglioma oligodendroglioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002545 MONDO:0002602 True spinal cord disorder central nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002545 MONDO:0002602 True spinal cord disorder central nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0002546 MONDO:0002547 True schwannoma nerve sheath neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002548 MONDO:0002546 True cellular schwannoma schwannoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002549 MONDO:0002546 True schwannoma of twelfth cranial nerve schwannoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002546 MONDO:0016752 True schwannoma benign peripheral nerve sheath tumor UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0002547 MONDO:0001406 True nerve sheath neoplasm peripheral nervous system neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002548 MONDO:0002546 True cellular schwannoma schwannoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002549 MONDO:0002546 True schwannoma of twelfth cranial nerve schwannoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0002549 MONDO:0002550 True schwannoma of twelfth cranial nerve hypoglossal nerve neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0002550 MONDO:0001810 True hypoglossal nerve neoplasm hypoglossal nerve disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0002550 MONDO:0002633 True hypoglossal nerve neoplasm cranial nerve neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002551 MONDO:0002553 True c-P angle neurinoma cerebellopontine angle tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002551 MONDO:0002553 True c-P angle neurinoma cerebellopontine angle tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002552 MONDO:0002545 True vascular myelopathy spinal cord disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0002553 MONDO:0021211 True cerebellopontine angle tumor brain neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0002554 MONDO:0002366 True sympathetic neurilemmoma autonomic nervous system neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0002554 MONDO:0002546 True sympathetic neurilemmoma schwannoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002555 MONDO:0001420 True trigeminal schwannoma trigeminal nerve neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002555 MONDO:0001420 True trigeminal schwannoma trigeminal nerve neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0002555 MONDO:0002546 True trigeminal schwannoma schwannoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0002556 MONDO:0002546 True microcystic/reticular schwannoma schwannoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002559 MONDO:0002546 True plexiform schwannoma schwannoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002561 MONDO:0019052 True lysosomal storage disease inborn errors of metabolism UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002558 MONDO:0002546 True melanotic neurilemmoma schwannoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002559 MONDO:0002546 True plexiform schwannoma schwannoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002561 MONDO:0019052 True lysosomal storage disease inborn errors of metabolism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0002563 MONDO:0015064 True jejunal somatostatinoma jejunal neuroendocrine tumor, well differentiated, low or intermediate grade UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002564 MONDO:0004251 True jejunal neoplasm small intestine neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002571 MONDO:0002714 True primary central nervous system lymphoma central nervous system cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002571 MONDO:0003641 True primary central nervous system lymphoma central nervous system hematopoietic neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002571 MONDO:0017207 True primary central nervous system lymphoma primary organ-specific lymphoma UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002572 MONDO:0043905 True aspiration pneumonitis pneumonitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002574 MONDO:0006389 True prostate embryonal rhabdomyosarcoma prostate rhabdomyosarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002564 MONDO:0004251 True jejunal neoplasm small intestine neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002565 MONDO:0002545 True myelitis spinal cord disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002567 MONDO:0004867 True tracheal disorder upper respiratory tract disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002568 MONDO:0002567 True tracheal stenosis tracheal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002569 MONDO:0004298 True gastric dilatation stomach disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002570 MONDO:0002602 True high pressure neurological syndrome central nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002571 MONDO:0000621 True primary central nervous system lymphoma immune system cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002571 MONDO:0002714 True primary central nervous system lymphoma central nervous system cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002571 MONDO:0003641 True primary central nervous system lymphoma central nervous system hematopoietic neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002571 MONDO:0017207 True primary central nervous system lymphoma primary organ-specific lymphoma UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0002571 MONDO:0017343 True primary central nervous system lymphoma Epstein-Barr virus-associated malignant lymphoproliferative disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0002574 MONDO:0006389 True prostate embryonal rhabdomyosarcoma prostate rhabdomyosarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0002574 MONDO:0009993 True prostate embryonal rhabdomyosarcoma embryonal rhabdomyosarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002576 MONDO:0002577 True embryonal extrahepatic bile duct rhabdomyosarcoma extrahepatic bile duct rhabdomyosarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002576 MONDO:0002577 True embryonal extrahepatic bile duct rhabdomyosarcoma extrahepatic bile duct rhabdomyosarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0002576 MONDO:0009993 True embryonal extrahepatic bile duct rhabdomyosarcoma embryonal rhabdomyosarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0002577 MONDO:0024658 True extrahepatic bile duct rhabdomyosarcoma extrahepatic bile duct sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002578 MONDO:0009993 True botryoid rhabdomyosarcoma embryonal rhabdomyosarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002579 MONDO:0002580 True orbit embryonal rhabdomyosarcoma orbit rhabdomyosarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002578 MONDO:0009993 True botryoid rhabdomyosarcoma embryonal rhabdomyosarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002579 MONDO:0002580 True orbit embryonal rhabdomyosarcoma orbit rhabdomyosarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0002579 MONDO:0009993 True orbit embryonal rhabdomyosarcoma embryonal rhabdomyosarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002580 MONDO:0004943 True orbit rhabdomyosarcoma orbit sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002580 MONDO:0004943 True orbit rhabdomyosarcoma orbit sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0002580 MONDO:0005212 True orbit rhabdomyosarcoma rhabdomyosarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002581 MONDO:0005212 True spindle cell rhabdomyosarcoma rhabdomyosarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002583 MONDO:0005183 True mucinous ovarian cystadenoma ovarian cystadenoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002581 MONDO:0005212 True spindle cell rhabdomyosarcoma rhabdomyosarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002583 MONDO:0005183 True mucinous ovarian cystadenoma ovarian cystadenoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0002583 MONDO:0006859 True mucinous ovarian cystadenoma mucinous cystadenoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002585 MONDO:0005219 True breast fibrocystic change, proliferative type breast fibrocystic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002585 MONDO:0005219 True breast fibrocystic change, proliferative type breast fibrocystic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002586 MONDO:0000621 True thymus cancer immune system cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0002586 MONDO:0005197 True thymus cancer thymus neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002587 MONDO:0006456 True encapsulated thymoma thymoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002588 MONDO:0006456 True thymoma type A thymoma UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002592 MONDO:0006456 True invasive malignant thymoma thymoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002586 MONDO:0021069 True thymus cancer malignant endocrine neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002587 MONDO:0006456 True encapsulated thymoma thymoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002588 MONDO:0006456 True thymoma type A thymoma UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002590 MONDO:0006456 True combined thymoma thymoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002592 MONDO:0006456 True invasive malignant thymoma thymoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002595 MONDO:0005108 True vaccinia viral infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0002597 MONDO:0005564 True notochordal tumor embryonal neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0002597 MONDO:0019060 True notochordal tumor bone neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0002599 MONDO:0015864 True teratocarcinoma mixed germ cell tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0002601 MONDO:0021656 True teratoma nongerminomatous germ cell tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002602 MONDO:0005071 True central nervous system disorder nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002602 MONDO:0005071 True central nervous system disorder nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0002603 MONDO:0006359 True angiomyolipoma neoplasm with perivascular epithelioid cell differentiation UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0002604 MONDO:0002616 True pericytic neoplasm mesenchymal cell neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0002605 MONDO:0002603 True hepatic angiomyolipoma angiomyolipoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002605 MONDO:0024477 True hepatic angiomyolipoma liver and intrahepatic bile duct neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002606 MONDO:0002603 True epithelioid type angiomyolipoma angiomyolipoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002613 MONDO:0002028 True histrionic personality disorder personality disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002616 MONDO:0005070 True mesenchymal cell neoplasm neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002605 MONDO:0024477 True hepatic angiomyolipoma liver and intrahepatic bile duct neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002606 MONDO:0002603 True epithelioid type angiomyolipoma angiomyolipoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002610 MONDO:0002243 True purpura hemorrhagic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002612 MONDO:0005384 True frontal lobe epilepsy focal epilepsy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002613 MONDO:0002028 True histrionic personality disorder personality disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002614 MONDO:0005381 True bone inflammation disease bone disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002615 MONDO:0019245 True xanthomatosis lysosomal lipid storage disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002616 MONDO:0005070 True mesenchymal cell neoplasm neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0002617 MONDO:0016982 True bone angiosarcoma angiosarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002617 MONDO:0021054 True bone angiosarcoma bone sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002617 MONDO:0021054 True bone angiosarcoma bone sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0002617 MONDO:0024499 True bone angiosarcoma vascular bone neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0002618 MONDO:0021054 True undifferentiated high grade pleomorphic sarcoma of bone bone sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0002619 MONDO:0005164 True bone fibrosarcoma fibrosarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002619 MONDO:0021054 True bone fibrosarcoma bone sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002619 MONDO:0021054 True bone fibrosarcoma bone sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0002620 MONDO:0009807 True localized osteosarcoma osteosarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0002621 MONDO:0009807 True extraosseous osteosarcoma osteosarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0002621 MONDO:0018078 True extraosseous osteosarcoma soft tissue sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0002622 MONDO:0009807 True multifocal osteogenic sarcoma osteosarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0002623 MONDO:0006517 True pediatric osteosarcoma childhood malignant neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002623 MONDO:0009807 True pediatric osteosarcoma osteosarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002624 MONDO:0005058 True bone leiomyosarcoma leiomyosarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002623 MONDO:0009807 True pediatric osteosarcoma osteosarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002624 MONDO:0005058 True bone leiomyosarcoma leiomyosarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0002624 MONDO:0021054 True bone leiomyosarcoma bone sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002625 MONDO:0012817 True Ewing sarcoma of bone Ewing sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002625 MONDO:0012817 True Ewing sarcoma of bone Ewing sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0002625 MONDO:0021054 True Ewing sarcoma of bone bone sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0002625 MONDO:0021123 True Ewing sarcoma of bone Ewing sarcoma/peripheral primitive neuroectodermal tumor of bone UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0002626 MONDO:0002633 True spinal accessory nerve neoplasm cranial nerve neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0002626 MONDO:0002636 True spinal accessory nerve neoplasm accessory nerve disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0002627 MONDO:0002631 True chondroblastic osteosarcoma conventional osteosarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002628 MONDO:0002629 True peripheral osteosarcoma bone osteosarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002629 MONDO:0009807 True bone osteosarcoma osteosarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002629 MONDO:0021054 True bone osteosarcoma bone sarcoma UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002630 MONDO:0002129 True small cell osteogenic sarcoma bone cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002628 MONDO:0002629 True peripheral osteosarcoma bone osteosarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002629 MONDO:0009807 True bone osteosarcoma osteosarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002629 MONDO:0021054 True bone osteosarcoma bone sarcoma UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002630 MONDO:0002129 True small cell osteogenic sarcoma bone cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0002630 MONDO:0006974 True small cell osteogenic sarcoma small cell sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002631 MONDO:0002629 True conventional osteosarcoma bone osteosarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002631 MONDO:0002629 True conventional osteosarcoma bone osteosarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0002632 MONDO:0002629 True metachronous osteosarcoma of the bone bone osteosarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0002633 MONDO:0003569 True cranial nerve neoplasm cranial nerve neuropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0002634 MONDO:0005060 True liposarcoma of bone liposarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0002634 MONDO:0021054 True liposarcoma of bone bone sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002635 MONDO:0006999 True periodontal disorder tooth disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002636 MONDO:0003569 True accessory nerve disorder cranial nerve neuropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002636 MONDO:0003569 True accessory nerve disorder cranial nerve neuropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002636 MONDO:0003620 True accessory nerve disorder peripheral nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002637 MONDO:0005833 True histiocytosis lymphatic system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0002638 MONDO:0002633 True glossopharyngeal nerve neoplasm cranial nerve neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0002638 MONDO:0002639 True glossopharyngeal nerve neoplasm glossopharyngeal nerve disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002639 MONDO:0003569 True glossopharyngeal nerve disorder cranial nerve neuropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002640 MONDO:0002135 True optic nerve neoplasm optic nerve disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002639 MONDO:0003569 True glossopharyngeal nerve disorder cranial nerve neuropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002639 MONDO:0003620 True glossopharyngeal nerve disorder peripheral nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002640 MONDO:0002135 True optic nerve neoplasm optic nerve disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0002640 MONDO:0002633 True optic nerve neoplasm cranial nerve neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0002640 MONDO:0006130 True optic nerve neoplasm central nervous system neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0002641 MONDO:0000473 True subclavian artery aneurysm arterial disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0002642 MONDO:0002633 True trochlear nerve neoplasm cranial nerve neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0002642 MONDO:0007002 True trochlear nerve neoplasm trochlear nerve disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002644 MONDO:0021167 True idiopathic granulomatous myositis myositis disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002645 MONDO:0005560 True cerebritis brain disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002647 MONDO:0004382 True laryngitis laryngeal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002648 MONDO:0004988 True mammary Paget disease breast adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002643 MONDO:0002467 True vestibular disorder inner ear disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002644 MONDO:0021167 True idiopathic granulomatous myositis myositis disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002645 MONDO:0005560 True cerebritis brain disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002646 MONDO:0004777 True viral laryngitis acute laryngitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002647 MONDO:0004382 True laryngitis laryngeal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002648 MONDO:0004988 True mammary Paget disease breast adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0002648 MONDO:0021165 True mammary Paget disease Paget disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002649 MONDO:0002650 True scrotum Paget disease scrotal carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002649 MONDO:0002650 True scrotum Paget disease scrotal carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0002649 MONDO:0021165 True scrotum Paget disease Paget disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002650 MONDO:0004993 True scrotal carcinoma carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002650 MONDO:0004993 True scrotal carcinoma carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0002650 MONDO:0021112 True scrotal carcinoma scrotum cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002651 MONDO:0002652 True anal Paget disease anus adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002651 MONDO:0002652 True anal Paget disease anus adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0002651 MONDO:0008177 True anal Paget disease extramammary Paget disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002652 MONDO:0003199 True anus adenocarcinoma anal carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002653 MONDO:0006360 True Paget disease of the penis penile carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002652 MONDO:0003199 True anus adenocarcinoma anal carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002653 MONDO:0006360 True Paget disease of the penis penile carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0002653 MONDO:0008177 True Paget disease of the penis extramammary Paget disease UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002654 MONDO:0002263 True uterine disorder female reproductive system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002656 MONDO:0002898 True skin carcinoma skin cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002656 MONDO:0004993 True skin carcinoma carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002654 MONDO:0002263 True uterine disorder female reproductive system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002655 MONDO:0002656 True cutaneous Paget disease skin carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002656 MONDO:0002898 True skin carcinoma skin cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002656 MONDO:0004993 True skin carcinoma carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0002656 MONDO:0021634 True skin carcinoma epithelial skin neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002658 MONDO:0002659 True iris cancer uveal cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002658 MONDO:0002659 True iris cancer uveal cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0002658 MONDO:0021224 True iris cancer iris neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002659 MONDO:0002236 True uveal cancer ocular cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002659 MONDO:0002236 True uveal cancer ocular cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0002659 MONDO:0021225 True uveal cancer uvea neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002661 MONDO:0005328 True uveal disorder eye disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002660 MONDO:0003382 True blepharochalasis eyelid disorder UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002661 MONDO:0005328 True uveal disorder eye disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0002664 MONDO:0002665 True extrahepatic bile duct signet ring cell carcinoma extrahepatic bile duct adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0002664 MONDO:0005092 True extrahepatic bile duct signet ring cell carcinoma signet ring cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002665 MONDO:0003090 True extrahepatic bile duct adenocarcinoma extrahepatic bile duct carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002665 MONDO:0003193 True extrahepatic bile duct adenocarcinoma bile duct adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002665 MONDO:0003090 True extrahepatic bile duct adenocarcinoma extrahepatic bile duct carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002665 MONDO:0003193 True extrahepatic bile duct adenocarcinoma bile duct adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0002666 MONDO:0005092 True pancreatic signet ring cell adenocarcinoma signet ring cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002666 MONDO:0005184 True pancreatic signet ring cell adenocarcinoma pancreatic ductal adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002666 MONDO:0005184 True pancreatic signet ring cell adenocarcinoma pancreatic ductal adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0002667 MONDO:0005092 True gallbladder signet ring cell adenocarcinoma signet ring cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002667 MONDO:0006215 True gallbladder signet ring cell adenocarcinoma gallbladder adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002669 MONDO:0002670 True ampullary signet ring cell adenocarcinoma ampulla of vater adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002670 MONDO:0017590 True ampulla of vater adenocarcinoma carcinoma of the ampulla of vater UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002671 MONDO:0004988 True signet ring cell breast carcinoma breast adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002667 MONDO:0006215 True gallbladder signet ring cell adenocarcinoma gallbladder adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002669 MONDO:0002670 True ampullary signet ring cell adenocarcinoma ampulla of vater adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002670 MONDO:0017590 True ampulla of vater adenocarcinoma carcinoma of the ampulla of vater UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002671 MONDO:0004988 True signet ring cell breast carcinoma breast adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0002671 MONDO:0005092 True signet ring cell breast carcinoma signet ring cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0002671 MONDO:0006256 True signet ring cell breast carcinoma invasive breast carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0002672 MONDO:0002493 True acinar prostate adenocarcinoma, signet ring variant prostatic acinar adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0002672 MONDO:0005092 True acinar prostate adenocarcinoma, signet ring variant signet ring cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002677 MONDO:0005164 True conventional fibrosarcoma fibrosarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002678 MONDO:0005164 True pediatric fibrosarcoma fibrosarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002674 MONDO:0005240 True stricture or kinking of ureter kidney disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002675 MONDO:0016755 True neurofibrosarcoma neurofibroma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002677 MONDO:0005164 True conventional fibrosarcoma fibrosarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002678 MONDO:0005164 True pediatric fibrosarcoma fibrosarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0002678 MONDO:0006517 True pediatric fibrosarcoma childhood malignant neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002681 MONDO:0002682 True choroid plexus cancer cerebral ventricle cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002679 MONDO:0005394 True cerebral infarction brain infarction UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002681 MONDO:0002682 True choroid plexus cancer cerebral ventricle cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0002681 MONDO:0016717 True choroid plexus cancer choroid plexus neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0002682 MONDO:0001657 True cerebral ventricle cancer brain cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0002683 MONDO:0016717 True adult choroid plexus neoplasm choroid plexus neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002684 MONDO:0016717 True atypical choroid plexus papilloma choroid plexus neoplasm UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002685 MONDO:0002071 True childhood choroid plexus carcinoma supratentorial cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002684 MONDO:0016717 True atypical choroid plexus papilloma choroid plexus neoplasm UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0002685 MONDO:0002071 True childhood choroid plexus carcinoma supratentorial cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0002685 MONDO:0006517 True childhood choroid plexus carcinoma childhood malignant neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0002685 MONDO:0016718 True childhood choroid plexus carcinoma choroid plexus carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0002685 MONDO:0024744 True childhood choroid plexus carcinoma childhood choroid plexus neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002687 MONDO:0002254 True superior mesenteric artery syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002691 MONDO:0002516 True liver cancer digestive system cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002687 MONDO:0002688 True superior mesenteric artery syndrome duodenal obstruction UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002688 MONDO:0002866 True duodenal obstruction duodenal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002691 MONDO:0002516 True liver cancer digestive system cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002691 MONDO:0021069 True liver cancer malignant endocrine neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0002691 MONDO:0024477 True liver cancer liver and intrahepatic bile duct neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002696 MONDO:0006055 True Sertoli cell tumor sex cord-stromal tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002697 MONDO:0010768 True ovarian gonadoblastoma gonadoblastoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002698 MONDO:0010768 True testicular gonadoblastoma gonadoblastoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002701 MONDO:0002702 True ovarian mucinous cystadenocarcinoma ovarian cystadenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002692 MONDO:0002907 True intracranial sinus thrombosis intracranial thrombosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002693 MONDO:0002692 True lateral sinus thrombosis intracranial sinus thrombosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002694 MONDO:0002692 True cavernous sinus thrombosis intracranial sinus thrombosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002695 MONDO:0002692 True sagittal sinus thrombosis intracranial sinus thrombosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002696 MONDO:0006055 True Sertoli cell tumor sex cord-stromal tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002697 MONDO:0010768 True ovarian gonadoblastoma gonadoblastoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002698 MONDO:0010768 True testicular gonadoblastoma gonadoblastoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002701 MONDO:0002702 True ovarian mucinous cystadenocarcinoma ovarian cystadenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0002701 MONDO:0005601 True ovarian mucinous cystadenocarcinoma ovarian mucinous adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0002701 MONDO:0005858 True ovarian mucinous cystadenocarcinoma mucinous cystadenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002702 MONDO:0002752 True ovarian cystadenocarcinoma ovarian adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002702 MONDO:0002752 True ovarian cystadenocarcinoma ovarian adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0002702 MONDO:0005596 True ovarian cystadenocarcinoma cystadenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0002703 MONDO:0005858 True appendix mucinous cystadenocarcinoma mucinous cystadenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0002703 MONDO:0018330 True appendix mucinous cystadenocarcinoma mucinous adenocarcinoma of the appendix UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002705 MONDO:0004988 True breast mucinous cystadenocarcinoma breast adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002705 MONDO:0004988 True breast mucinous cystadenocarcinoma breast adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0002705 MONDO:0005858 True breast mucinous cystadenocarcinoma mucinous cystadenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002706 MONDO:0002256 True cervix endometriosis cervix disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002706 MONDO:0005133 True cervix endometriosis endometriosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002706 MONDO:0002256 True cervix endometriosis cervix disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0002707 MONDO:0004957 True breast mucinous carcinoma mucinous adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002708 MONDO:0005283 True retinitis retinal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002710 MONDO:0006085 True infiltrating angiolipoma angiolipoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002708 MONDO:0005283 True retinitis retinal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002710 MONDO:0006085 True infiltrating angiolipoma angiolipoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0002712 MONDO:0002713 True epidural spinal canal angiolipoma epidural spinal canal neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002712 MONDO:0006085 True epidural spinal canal angiolipoma angiolipoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002713 MONDO:0005070 True epidural spinal canal neoplasm neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002714 MONDO:0005872 True central nervous system cancer nervous system cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002712 MONDO:0006085 True epidural spinal canal angiolipoma angiolipoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002713 MONDO:0005070 True epidural spinal canal neoplasm neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002714 MONDO:0005872 True central nervous system cancer nervous system cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0002714 MONDO:0006130 True central nervous system cancer central nervous system neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002715 MONDO:0001416 True uterine cancer female reproductive organ cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002715 MONDO:0001416 True uterine cancer female reproductive organ cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0002715 MONDO:0021353 True uterine cancer tumor of uterus UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0002716 MONDO:0021079 True childhood spinal cord tumor childhood neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0002716 MONDO:0021234 True childhood spinal cord tumor spinal cord neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0002717 MONDO:0002718 True spinal cord intramedullary teratoma central nervous system teratoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0002718 MONDO:0002601 True central nervous system teratoma teratoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002718 MONDO:0019500 True central nervous system teratoma extragonadal teratoma UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0002718 MONDO:0020574 True central nervous system teratoma central nervous system nongerminomatous germ cell tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0002719 MONDO:0021234 True conus medullaris neoplasm spinal cord neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002720 MONDO:0002785 True sella turcica neoplasm skull base neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002721 MONDO:0003381 True necrosis of pituitary pituitary gland disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002720 MONDO:0002785 True sella turcica neoplasm skull base neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002721 MONDO:0003381 True necrosis of pituitary pituitary gland disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0002722 MONDO:0002633 True olfactory nerve neoplasm cranial nerve neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0002722 MONDO:0002727 True olfactory nerve neoplasm olfactory nerve disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0002724 MONDO:0005170 True mast cell neoplasm myeloid neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002726 MONDO:0002724 True cutaneous solitary mastocytoma mast cell neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002727 MONDO:0003569 True olfactory nerve disorder cranial nerve neuropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002726 MONDO:0002724 True cutaneous solitary mastocytoma mast cell neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002727 MONDO:0003569 True olfactory nerve disorder cranial nerve neuropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002727 MONDO:0003620 True olfactory nerve disorder peripheral nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0002728 MONDO:0005564 True rhabdoid tumor embryonal neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002729 MONDO:0002728 True rhabdoid tumor of the kidney rhabdoid tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002728 MONDO:0018078 True rhabdoid tumor soft tissue sarcoma UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0002729 MONDO:0002728 True rhabdoid tumor of the kidney rhabdoid tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0002730 MONDO:0021079 True childhood kidney neoplasm childhood neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0002730 MONDO:0021163 True childhood kidney neoplasm kidney neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002731 MONDO:0002071 True cerebral hemisphere cancer supratentorial cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002731 MONDO:0002071 True cerebral hemisphere cancer supratentorial cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0002731 MONDO:0021374 True cerebral hemisphere cancer neoplasm of cerebral hemisphere UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0002732 MONDO:0000382 True lung benign neoplasm respiratory system benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0002732 MONDO:0000634 True lung benign neoplasm thoracic benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0002732 MONDO:0021117 True lung benign neoplasm lung neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002734 MONDO:0002652 True anal mucinous adenocarcinoma anus adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002734 MONDO:0002652 True anal mucinous adenocarcinoma anus adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0002735 MONDO:0002652 True anal canal adenocarcinoma anus adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002735 MONDO:0007108 True anal canal adenocarcinoma anal canal carcinoma UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002736 MONDO:0002670 True ampulla of vater mucinous adenocarcinoma ampulla of vater adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002735 MONDO:0007108 True anal canal adenocarcinoma anal canal carcinoma UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002736 MONDO:0002670 True ampulla of vater mucinous adenocarcinoma ampulla of vater adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002737 MONDO:0002738 True acute sanguinous otitis media acute transudative otitis media UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002738 MONDO:0001212 True acute transudative otitis media non-suppurative otitis media UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0002739 MONDO:0002665 True extrahepatic bile duct mucinous adenocarcinoma extrahepatic bile duct adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002739 MONDO:0004957 True extrahepatic bile duct mucinous adenocarcinoma mucinous adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002740 MONDO:0002741 True uterine ligament mucinous adenocarcinoma uterine ligament adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002741 MONDO:0003612 True uterine ligament adenocarcinoma uterine ligament cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002742 MONDO:0004957 True cervical mucinous adenocarcinoma mucinous adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002742 MONDO:0005153 True cervical mucinous adenocarcinoma cervical adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002739 MONDO:0004957 True extrahepatic bile duct mucinous adenocarcinoma mucinous adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002740 MONDO:0002741 True uterine ligament mucinous adenocarcinoma uterine ligament adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002741 MONDO:0003612 True uterine ligament adenocarcinoma uterine ligament cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002742 MONDO:0004957 True cervical mucinous adenocarcinoma mucinous adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002742 MONDO:0005153 True cervical mucinous adenocarcinoma cervical adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0002744 MONDO:0002745 True fallopian tube mucinous adenocarcinoma fallopian tube mucinous tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002744 MONDO:0002746 True fallopian tube mucinous adenocarcinoma fallopian tube adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002744 MONDO:0004957 True fallopian tube mucinous adenocarcinoma mucinous adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002744 MONDO:0002746 True fallopian tube mucinous adenocarcinoma fallopian tube adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002744 MONDO:0004957 True fallopian tube mucinous adenocarcinoma mucinous adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0002745 MONDO:0021092 True fallopian tube mucinous tumor fallopian tube neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0002745 MONDO:0024338 True fallopian tube mucinous tumor mucinous neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002746 MONDO:0004970 True fallopian tube adenocarcinoma adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002746 MONDO:0006206 True fallopian tube adenocarcinoma fallopian tube carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002747 MONDO:0004957 True endometrial mucinous adenocarcinoma mucinous adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002747 MONDO:0005461 True endometrial mucinous adenocarcinoma endometrium adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002748 MONDO:0002169 True rectum mucinous adenocarcinoma rectum adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002748 MONDO:0004957 True rectum mucinous adenocarcinoma mucinous adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002749 MONDO:0005072 True extracranial neuroblastoma neuroblastoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002750 MONDO:0002751 True bladder colloid adenocarcinoma bladder adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002751 MONDO:0004970 True bladder adenocarcinoma adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002751 MONDO:0004986 True bladder adenocarcinoma urinary bladder carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002752 MONDO:0004970 True ovarian adenocarcinoma adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002752 MONDO:0005140 True ovarian adenocarcinoma ovarian carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002754 MONDO:0005615 True extramedullary plasmacytoma plasmacytoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002755 MONDO:0005615 True solitary osseous plasmacytoma plasmacytoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002756 MONDO:0005615 True solitary plasmacytoma of chest wall plasmacytoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002746 MONDO:0004970 True fallopian tube adenocarcinoma adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002746 MONDO:0006206 True fallopian tube adenocarcinoma fallopian tube carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002747 MONDO:0004957 True endometrial mucinous adenocarcinoma mucinous adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002747 MONDO:0005461 True endometrial mucinous adenocarcinoma endometrium adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002748 MONDO:0002169 True rectum mucinous adenocarcinoma rectum adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002748 MONDO:0004957 True rectum mucinous adenocarcinoma mucinous adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002749 MONDO:0005072 True extracranial neuroblastoma neuroblastoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002750 MONDO:0002751 True bladder colloid adenocarcinoma bladder adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002751 MONDO:0004970 True bladder adenocarcinoma adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002751 MONDO:0004986 True bladder adenocarcinoma urinary bladder carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002752 MONDO:0004970 True ovarian adenocarcinoma adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002752 MONDO:0005140 True ovarian adenocarcinoma ovarian carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002754 MONDO:0005615 True extramedullary plasmacytoma plasmacytoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002755 MONDO:0005615 True solitary osseous plasmacytoma plasmacytoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002756 MONDO:0000621 True solitary plasmacytoma of chest wall immune system cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002756 MONDO:0005615 True solitary plasmacytoma of chest wall plasmacytoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002757 MONDO:0002737 True acute allergic sanguinous otitis media acute sanguinous otitis media UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0002758 MONDO:0006006 True vulva verrucous carcinoma verrucous carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002758 MONDO:0024609 True vulva verrucous carcinoma vulvar squamous cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002759 MONDO:0002760 True bladder verrucous carcinoma bladder squamous cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002758 MONDO:0024609 True vulva verrucous carcinoma vulvar squamous cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002759 MONDO:0002760 True bladder verrucous carcinoma bladder squamous cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0002759 MONDO:0006006 True bladder verrucous carcinoma verrucous carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002760 MONDO:0004986 True bladder squamous cell carcinoma urinary bladder carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002760 MONDO:0005096 True bladder squamous cell carcinoma squamous cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002760 MONDO:0004986 True bladder squamous cell carcinoma urinary bladder carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002760 MONDO:0005096 True bladder squamous cell carcinoma squamous cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0002761 MONDO:0006006 True cervical verrucous carcinoma verrucous carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002761 MONDO:0006143 True cervical verrucous carcinoma cervical squamous cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002762 MONDO:0005580 True esophagus verrucous carcinoma esophageal squamous cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002761 MONDO:0006143 True cervical verrucous carcinoma cervical squamous cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002762 MONDO:0005580 True esophagus verrucous carcinoma esophageal squamous cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0002762 MONDO:0006006 True esophagus verrucous carcinoma verrucous carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002763 MONDO:0002764 True urethral verrucous carcinoma urethra squamous cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002763 MONDO:0002764 True urethral verrucous carcinoma urethra squamous cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0002763 MONDO:0006006 True urethral verrucous carcinoma verrucous carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002764 MONDO:0005096 True urethra squamous cell carcinoma squamous cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002764 MONDO:0005096 True urethra squamous cell carcinoma squamous cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0002764 MONDO:0021327 True urethra squamous cell carcinoma carcinoma of urethra UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002765 MONDO:0002529 True plantar verrucous skin carcinoma skin squamous cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002765 MONDO:0002529 True plantar verrucous skin carcinoma skin squamous cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0002765 MONDO:0006006 True plantar verrucous skin carcinoma verrucous carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002766 MONDO:0005595 True larynx verrucous carcinoma laryngeal squamous cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002766 MONDO:0005595 True larynx verrucous carcinoma laryngeal squamous cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0002766 MONDO:0006006 True larynx verrucous carcinoma verrucous carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002768 MONDO:0002145 True true hermaphroditism disorder of sexual differentiation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002769 MONDO:0002770 True leukorrhea vaginal discharge UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002770 MONDO:0001433 True vaginal discharge vaginal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002771 MONDO:0015925 True pulmonary fibrosis interstitial lung disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0002772 MONDO:0002682 True intraventricular meningioma cerebral ventricle cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002776 MONDO:0002409 True external ear disorder auditory system disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002776 MONDO:0021205 True external ear disorder disorder of ear UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002778 MONDO:0001279 True epidural spinal canal meningioma intraspinal meningioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002775 MONDO:0005558 True anovulation ovarian disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002776 MONDO:0002409 True external ear disorder auditory system disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002778 MONDO:0001279 True epidural spinal canal meningioma intraspinal meningioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002779 MONDO:0000628 True central nervous system chondroma central nervous system organ benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0002779 MONDO:0006423 True central nervous system chondroma soft tissue chondroma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0002781 MONDO:0002639 True glossopharyngeal nerve paralysis glossopharyngeal nerve disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002781 MONDO:0002782 True glossopharyngeal nerve paralysis cranial nerve palsy UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002782 MONDO:0003569 True cranial nerve palsy cranial nerve neuropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002781 MONDO:0002782 True glossopharyngeal nerve paralysis cranial nerve palsy UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002782 MONDO:0003569 True cranial nerve palsy cranial nerve neuropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002783 MONDO:0018882 True Shwartzman phenomenon vasculitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0002785 MONDO:0024653 True skull base neoplasm skull neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002786 MONDO:0002071 True diencephalic cancer supratentorial cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002787 MONDO:0018907 True adamantinous craniopharyngioma craniopharyngioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002788 MONDO:0018907 True papillary craniopharyngioma craniopharyngioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002791 MONDO:0007959 True large cell medulloblastoma medulloblastoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002792 MONDO:0007959 True cerebellar vermis medulloblastoma medulloblastoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002786 MONDO:0002071 True diencephalic cancer supratentorial cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002787 MONDO:0018907 True adamantinous craniopharyngioma craniopharyngioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002788 MONDO:0018907 True papillary craniopharyngioma craniopharyngioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002789 MONDO:0002604 True hemangiopericytic tumor pericytic neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002791 MONDO:0007959 True large cell medulloblastoma medulloblastoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002792 MONDO:0007959 True cerebellar vermis medulloblastoma medulloblastoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0002794 MONDO:0003260 True adult medulloblastoma adult cerebellar neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002794 MONDO:0007959 True adult medulloblastoma medulloblastoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002795 MONDO:0000640 True adult central nervous system primitive neuroectodermal neoplasm central nervous system primitive neuroectodermal neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002796 MONDO:0007959 True melanotic medulloblastoma medulloblastoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002794 MONDO:0007959 True adult medulloblastoma medulloblastoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002795 MONDO:0000640 True adult central nervous system primitive neuroectodermal neoplasm central nervous system primitive neuroectodermal neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002796 MONDO:0007959 True melanotic medulloblastoma medulloblastoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0002797 MONDO:0003263 True childhood medulloblastoma childhood cerebellar neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002797 MONDO:0007959 True childhood medulloblastoma medulloblastoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002798 MONDO:0000640 True childhood central nervous system primitive neuroectodermal neoplasm central nervous system primitive neuroectodermal neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002797 MONDO:0007959 True childhood medulloblastoma medulloblastoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002798 MONDO:0000640 True childhood central nervous system primitive neuroectodermal neoplasm central nervous system primitive neuroectodermal neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0002798 MONDO:0006517 True childhood central nervous system primitive neuroectodermal neoplasm childhood malignant neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002800 MONDO:0004625 True thrombophlebitis phlebitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002804 MONDO:0003686 True apocrine adenoma apocrine sweat gland neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002799 MONDO:0007959 True nodular medulloblastoma medulloblastoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002800 MONDO:0004625 True thrombophlebitis phlebitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002801 MONDO:0002802 True colonic pseudo-obstruction functional colonic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002802 MONDO:0003409 True functional colonic disease colonic disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002804 MONDO:0003686 True apocrine adenoma apocrine sweat gland neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0002805 MONDO:0021110 True hidradenoma sweat gland adenoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0002806 MONDO:0001672 True bronchogenic carcinoma bronchus cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0002806 MONDO:0005138 True bronchogenic carcinoma lung carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002808 MONDO:0002809 True pancreatic serous cystadenoma pancreatic cystadenoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002807 MONDO:0001358 True bronchial neoplasm bronchial disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002808 MONDO:0002809 True pancreatic serous cystadenoma pancreatic cystadenoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0002808 MONDO:0005177 True pancreatic serous cystadenoma serous cystadenoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0002809 MONDO:0002369 True pancreatic cystadenoma cystadenoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0002809 MONDO:0021076 True pancreatic cystadenoma pancreatic exocrine neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0002810 MONDO:0021076 True pancreatic serous cystic neoplasm pancreatic exocrine neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002815 MONDO:0004496 True acute myocarditis myocarditis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002814 MONDO:0002817 True adrenal carcinoma adrenal gland cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002815 MONDO:0004496 True acute myocarditis myocarditis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002816 MONDO:0005495 True adrenal cortex disorder adrenal gland disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0002817 MONDO:0005941 True adrenal gland cancer retroperitoneal cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002817 MONDO:0021069 True adrenal gland cancer malignant endocrine neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0002817 MONDO:0021227 True adrenal gland cancer adrenal gland neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0002821 MONDO:0005034 True trabecular follicular adenocarcinoma thyroid gland follicular carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0002822 MONDO:0004970 True trabecular adenocarcinoma adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002828 MONDO:0002829 True Bartholin gland transitional cell carcinoma bartholin gland carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002824 MONDO:0004994 True extrinsic cardiomyopathy cardiomyopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002828 MONDO:0002829 True Bartholin gland transitional cell carcinoma bartholin gland carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0002828 MONDO:0006474 True Bartholin gland transitional cell carcinoma transitional cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002829 MONDO:0005215 True bartholin gland carcinoma vulvar carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002829 MONDO:0005215 True bartholin gland carcinoma vulvar carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0002829 MONDO:0021114 True bartholin gland carcinoma Bartholin gland neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0002831 MONDO:0044787 True non-keratinizing sinonasal squamous cell carcinoma nasal cavity and paranasal sinus squamous cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002832 MONDO:0002447 True endometrial transitional cell carcinoma endometrial carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002832 MONDO:0006474 True endometrial transitional cell carcinoma transitional cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002833 MONDO:0006206 True fallopian tube transitional cell carcinoma fallopian tube carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002833 MONDO:0006474 True fallopian tube transitional cell carcinoma transitional cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002834 MONDO:0005159 True primary prostate urothelial carcinoma prostate carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002834 MONDO:0006474 True primary prostate urothelial carcinoma transitional cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002832 MONDO:0002447 True endometrial transitional cell carcinoma endometrial carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002832 MONDO:0006474 True endometrial transitional cell carcinoma transitional cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002833 MONDO:0006206 True fallopian tube transitional cell carcinoma fallopian tube carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002833 MONDO:0006474 True fallopian tube transitional cell carcinoma transitional cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002834 MONDO:0005159 True primary prostate urothelial carcinoma prostate carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002834 MONDO:0006474 True primary prostate urothelial carcinoma transitional cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0002836 MONDO:0021327 True urethra transitional cell carcinoma carcinoma of urethra UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0002836 MONDO:0040679 True urethra transitional cell carcinoma urothelial carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0002837 MONDO:0006406 True sarcomatoid transitional cell carcinoma sarcomatoid carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002837 MONDO:0006474 True sarcomatoid transitional cell carcinoma transitional cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002839 MONDO:0045054 True leather-bottle stomach cancer-related condition UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002840 MONDO:0004966 True eosinophilic gastritis gastritis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002840 MONDO:0016129 True eosinophilic gastritis eosinophilic gastroenteritis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002842 MONDO:0004966 True bacterial gastritis gastritis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002842 MONDO:0043424 True bacterial gastritis digestive system infectious disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002843 MONDO:0004966 True fungal gastritis gastritis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002844 MONDO:0004966 True lymphocytic gastritis gastritis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002845 MONDO:0004966 True necrotizing gastritis gastritis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002846 MONDO:0004966 True granulomatous gastritis gastritis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002837 MONDO:0006474 True sarcomatoid transitional cell carcinoma transitional cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002839 MONDO:0004298 True leather-bottle stomach stomach disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002840 MONDO:0004966 True eosinophilic gastritis gastritis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002842 MONDO:0004966 True bacterial gastritis gastritis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002842 MONDO:0005113 True bacterial gastritis bacterial infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002843 MONDO:0002041 True fungal gastritis fungal infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002843 MONDO:0004966 True fungal gastritis gastritis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002844 MONDO:0004966 True lymphocytic gastritis gastritis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002845 MONDO:0004966 True necrotizing gastritis gastritis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002846 MONDO:0004966 True granulomatous gastritis gastritis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0002847 MONDO:0002848 True skeletal muscle cancer skeletal muscle neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002847 MONDO:0005864 True skeletal muscle cancer muscle cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002848 MONDO:0005070 True skeletal muscle neoplasm neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002849 MONDO:0002397 True liver rhabdomyosarcoma liver sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002847 MONDO:0005864 True skeletal muscle cancer muscle cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002848 MONDO:0005070 True skeletal muscle neoplasm neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002849 MONDO:0002397 True liver rhabdomyosarcoma liver sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0002849 MONDO:0005212 True liver rhabdomyosarcoma rhabdomyosarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0002850 MONDO:0002217 True central nervous system rhabdomyosarcoma central nervous system sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002850 MONDO:0005212 True central nervous system rhabdomyosarcoma rhabdomyosarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002850 MONDO:0005212 True central nervous system rhabdomyosarcoma rhabdomyosarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0002851 MONDO:0002852 True mediastinum rhabdomyosarcoma mediastinum sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002851 MONDO:0005212 True mediastinum rhabdomyosarcoma rhabdomyosarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002851 MONDO:0005212 True mediastinum rhabdomyosarcoma rhabdomyosarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0002852 MONDO:0018078 True mediastinum sarcoma soft tissue sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0002852 MONDO:0037743 True mediastinum sarcoma mediastinal soft tissue cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002853 MONDO:0002168 True rectum rhabdomyosarcoma rectum sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002853 MONDO:0002168 True rectum rhabdomyosarcoma rectum sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0002853 MONDO:0005212 True rectum rhabdomyosarcoma rhabdomyosarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002854 MONDO:0008315 True prostate sarcoma prostate cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002854 MONDO:0008315 True prostate sarcoma prostate cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0002854 MONDO:0018078 True prostate sarcoma soft tissue sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0002855 MONDO:0005089 True ectomesenchymoma sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002855 MONDO:0005872 True ectomesenchymoma nervous system cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0002856 MONDO:0002857 True gallbladder rhabdomyosarcoma gallbladder sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002856 MONDO:0005212 True gallbladder rhabdomyosarcoma rhabdomyosarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002857 MONDO:0005411 True gallbladder sarcoma gallbladder cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002856 MONDO:0005212 True gallbladder rhabdomyosarcoma rhabdomyosarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002857 MONDO:0005411 True gallbladder sarcoma gallbladder cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0002857 MONDO:0018078 True gallbladder sarcoma soft tissue sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0002858 MONDO:0002225 True ovary rhabdomyosarcoma ovarian sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002858 MONDO:0005212 True ovary rhabdomyosarcoma rhabdomyosarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002859 MONDO:0002490 True breast rhabdomyosarcoma breast sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002858 MONDO:0005212 True ovary rhabdomyosarcoma rhabdomyosarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002859 MONDO:0002490 True breast rhabdomyosarcoma breast sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0002859 MONDO:0005212 True breast rhabdomyosarcoma rhabdomyosarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002860 MONDO:0002861 True testis rhabdomyosarcoma testis sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002860 MONDO:0002861 True testis rhabdomyosarcoma testis sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0002860 MONDO:0005212 True testis rhabdomyosarcoma rhabdomyosarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002861 MONDO:0005447 True testis sarcoma testicular cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002861 MONDO:0005447 True testis sarcoma testicular cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0002861 MONDO:0018078 True testis sarcoma soft tissue sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002863 MONDO:0005212 True rhabdomyosarcoma with mixed embryonal and alveolar features rhabdomyosarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002862 MONDO:0003059 True bile duct sarcoma bile duct cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002863 MONDO:0005212 True rhabdomyosarcoma with mixed embryonal and alveolar features rhabdomyosarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0002864 MONDO:0002865 True anus rhabdomyosarcoma anus sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002865 MONDO:0001879 True anus sarcoma anus cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002865 MONDO:0001879 True anus sarcoma anus cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0002865 MONDO:0018078 True anus sarcoma soft tissue sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0002867 MONDO:0005596 True pancreatic cystadenocarcinoma cystadenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002867 MONDO:0006047 True pancreatic cystadenocarcinoma pancreatic adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002867 MONDO:0006047 True pancreatic cystadenocarcinoma pancreatic adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0002868 MONDO:0003420 True bile duct mucinous cystic neoplasm with an associated invasive carcinoma bile duct cystadenoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002869 MONDO:0005267 True heart valve disorder heart disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002870 MONDO:0000471 True tricuspid valve insufficiency tricuspid valve disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002871 MONDO:0002872 True testicular trophoblastic tumor trophoblastic neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002871 MONDO:0002874 True testicular trophoblastic tumor testicular pure germ cell tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002869 MONDO:0005267 True heart valve disorder heart disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002870 MONDO:0000471 True tricuspid valve insufficiency tricuspid valve disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002871 MONDO:0002872 True testicular trophoblastic tumor trophoblastic neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0002871 MONDO:0006447 True testicular trophoblastic tumor testicular non-seminomatous germ cell tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002872 MONDO:0005070 True trophoblastic neoplasm neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002874 MONDO:0010108 True testicular pure germ cell tumor testicular germ cell tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002872 MONDO:0005070 True trophoblastic neoplasm neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002874 MONDO:0010108 True testicular pure germ cell tumor testicular germ cell tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0002876 MONDO:0005636 True cervical adenosarcoma adenosarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002876 MONDO:0016277 True cervical adenosarcoma malignant mixed epithelial and mesenchymal tumor of cervix uteri UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0002877 MONDO:0006485 True cervical carcinosarcoma uterine carcinosarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002878 MONDO:0002879 True uterine corpus adenosarcoma uterine body mixed cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002877 MONDO:0016277 True cervical carcinosarcoma malignant mixed epithelial and mesenchymal tumor of cervix uteri UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0002878 MONDO:0002879 True uterine corpus adenosarcoma uterine body mixed cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0002878 MONDO:0005636 True uterine corpus adenosarcoma adenosarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0002879 MONDO:0005853 True uterine body mixed cancer malignant mixed neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002879 MONDO:0006003 True uterine body mixed cancer uterine corpus cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0002879 MONDO:0016255 True uterine body mixed cancer uterine corpus mixed epithelial and mesenchymal neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0002880 MONDO:0005636 True ovarian adenosarcoma adenosarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002880 MONDO:0008170 True ovarian adenosarcoma ovarian cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002881 MONDO:0001402 True vaginal adenosarcoma vaginal cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002880 MONDO:0008170 True ovarian adenosarcoma ovarian cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002881 MONDO:0001402 True vaginal adenosarcoma vaginal cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0002881 MONDO:0005636 True vaginal adenosarcoma adenosarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0002882 MONDO:0002883 True colon neuroendocrine neoplasm intestinal neuroendocrine neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0002882 MONDO:0005401 True colon neuroendocrine neoplasm colonic neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002883 MONDO:0021118 True intestinal neuroendocrine neoplasm intestinal neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002883 MONDO:0021118 True intestinal neuroendocrine neoplasm intestinal neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0002883 MONDO:0024503 True intestinal neuroendocrine neoplasm digestive system neuroendocrine neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002888 MONDO:0016642 True intraorbital meningioma meningioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002884 MONDO:0002051 True nail disorder integumentary system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002885 MONDO:0002922 True erythrasma pyoderma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002886 MONDO:0002887 True common bile duct disorder bile duct disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002887 MONDO:0004868 True bile duct disorder biliary tract disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002888 MONDO:0016642 True intraorbital meningioma meningioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0002888 MONDO:0024611 True intraorbital meningioma orbit neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0002889 MONDO:0024611 True orbital cancer orbit neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0002892 MONDO:0002785 True skull base chordoma skull base neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002892 MONDO:0008978 True skull base chordoma chordoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002894 MONDO:0008978 True spinal chordoma chordoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002896 MONDO:0005976 True primary syphilis syphilis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002897 MONDO:0005976 True secondary syphilis syphilis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002892 MONDO:0008978 True skull base chordoma chordoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002894 MONDO:0008978 True spinal chordoma chordoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002896 MONDO:0005976 True primary syphilis syphilis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002897 MONDO:0005976 True secondary syphilis syphilis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002898 MONDO:0000653 True skin cancer integumentary system cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0002898 MONDO:0002531 True skin cancer skin neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002899 MONDO:0005072 True differentiating neuroblastoma neuroblastoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002900 MONDO:0002731 True cerebral neuroblastoma cerebral hemisphere cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002899 MONDO:0005072 True differentiating neuroblastoma neuroblastoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002900 MONDO:0002731 True cerebral neuroblastoma cerebral hemisphere cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0002900 MONDO:0005072 True cerebral neuroblastoma neuroblastoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002903 MONDO:0004750 True articulation disorder language disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002908 MONDO:0005066 True glucose metabolism disease metabolic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002912 MONDO:0003107 True brainstem cancer infratentorial cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002901 MONDO:0005570 True blood group incompatibility hematologic disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002903 MONDO:0004730 True articulation disorder speech disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002904 MONDO:0004730 True echolalia speech disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002905 MONDO:0004730 True mutism speech disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002907 MONDO:0000831 True intracranial thrombosis thrombotic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002907 MONDO:0011057 True intracranial thrombosis cerebrovascular disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002908 MONDO:0005066 True glucose metabolism disease metabolic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002909 MONDO:0002908 True hyperglycemia glucose metabolism disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002910 MONDO:0001397 True peroneal neuropathy mononeuropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002911 MONDO:0002912 True brain stem glioma brainstem cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002912 MONDO:0003107 True brainstem cancer infratentorial cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0002912 MONDO:0021228 True brainstem cancer brainstem neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0002913 MONDO:0002427 True cerebellar neoplasm cerebellar disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0002913 MONDO:0021211 True cerebellar neoplasm brain neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0002914 MONDO:0002912 True childhood brain stem neoplasm brainstem cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0002914 MONDO:0002915 True childhood brain stem neoplasm childhood infratentorial neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0002915 MONDO:0021079 True childhood infratentorial neoplasm childhood neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0002915 MONDO:0037736 True childhood infratentorial neoplasm infratentorial neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002916 MONDO:0002918 True brainstem intraparenchymal clear cell meningioma clear cell meningioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002918 MONDO:0016642 True clear cell meningioma meningioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002919 MONDO:0016642 True posterior cranial fossa meningioma meningioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002916 MONDO:0002918 True brainstem intraparenchymal clear cell meningioma clear cell meningioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002917 MONDO:0002051 True disorder of pilosebaceous unit integumentary system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002918 MONDO:0016642 True clear cell meningioma meningioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002919 MONDO:0016642 True posterior cranial fossa meningioma meningioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0002920 MONDO:0002370 True malignant ovarian Brenner tumor ovarian Brenner tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002920 MONDO:0018364 True malignant ovarian Brenner tumor malignant epithelial tumor of ovary UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002923 MONDO:0005210 True uterine corpus endometrial stromal sarcoma uterine corpus sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002920 MONDO:0018364 True malignant ovarian Brenner tumor malignant epithelial tumor of ovary UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002921 MONDO:0019952 True congenital structural myopathy congenital myopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002922 MONDO:0005093 True pyoderma skin disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002923 MONDO:0005210 True uterine corpus endometrial stromal sarcoma uterine corpus sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0002923 MONDO:0006745 True uterine corpus endometrial stromal sarcoma endometrioid stromal sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002924 MONDO:0005864 True smooth muscle cancer muscle cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002924 MONDO:0005864 True smooth muscle cancer muscle cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0002924 MONDO:0006975 True smooth muscle cancer smooth muscle tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0002926 MONDO:0018078 True clear cell sarcoma soft tissue sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002927 MONDO:0005089 True spindle cell sarcoma sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002928 MONDO:0005853 True carcinosarcoma malignant mixed neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002930 MONDO:0002367 True kidney sarcoma kidney cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002927 MONDO:0005089 True spindle cell sarcoma sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002928 MONDO:0005853 True carcinosarcoma malignant mixed neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002929 MONDO:0005275 True pulmonary immaturity lung disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002930 MONDO:0002367 True kidney sarcoma kidney cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0002930 MONDO:0018078 True kidney sarcoma soft tissue sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002934 MONDO:0006646 True intravascular angioleiomyoma angioleiomyoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002935 MONDO:0005341 True penis basal cell carcinoma skin basal cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002936 MONDO:0005341 True scrotum basal cell carcinoma skin basal cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002937 MONDO:0005341 True nodular basal cell carcinoma skin basal cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002938 MONDO:0005341 True metatypical basal cell carcinoma skin basal cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002939 MONDO:0005341 True skin pigmented basal cell carcinoma skin basal cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002940 MONDO:0005341 True anal margin basal cell carcinoma skin basal cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002931 MONDO:0006170 True conjunctivochalasis conjunctival disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002933 MONDO:0000833 True osteosclerosis bone remodeling disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002934 MONDO:0006646 True intravascular angioleiomyoma angioleiomyoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002935 MONDO:0005341 True penis basal cell carcinoma skin basal cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002936 MONDO:0005341 True scrotum basal cell carcinoma skin basal cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002937 MONDO:0005341 True nodular basal cell carcinoma skin basal cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002938 MONDO:0005341 True metatypical basal cell carcinoma skin basal cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002939 MONDO:0005341 True skin pigmented basal cell carcinoma skin basal cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002940 MONDO:0005341 True anal margin basal cell carcinoma skin basal cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0002941 MONDO:0002656 True anal margin carcinoma skin carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002941 MONDO:0003199 True anal margin carcinoma anal carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002943 MONDO:0005341 True external ear basal cell carcinoma skin basal cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002941 MONDO:0003199 True anal margin carcinoma anal carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002942 MONDO:0005341 True sebaceous basal cell carcinoma skin basal cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002943 MONDO:0005341 True external ear basal cell carcinoma skin basal cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0002944 MONDO:0002038 True external ear carcinoma head and neck carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002944 MONDO:0003574 True external ear carcinoma external ear cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002945 MONDO:0005341 True micronodular basal cell carcinoma skin basal cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002947 MONDO:0005341 True adamantinoid basal cell epithelioma skin basal cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002948 MONDO:0005341 True skin fibroepithelial basal cell carcinoma skin basal cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002949 MONDO:0005341 True morpheaform basal cell carcinoma skin basal cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002950 MONDO:0005341 True skin clear cell basal cell carcinoma skin basal cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002951 MONDO:0005341 True skin adenoid basal cell carcinoma skin basal cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002952 MONDO:0005341 True follicular basal cell carcinoma skin basal cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002953 MONDO:0005341 True skin infiltrative basal cell carcinoma skin basal cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002954 MONDO:0005341 True superficial multifocal basal cell carcinoma skin basal cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002955 MONDO:0005341 True vulva basal cell carcinoma skin basal cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002956 MONDO:0005341 True skin cystic basal cell carcinoma skin basal cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002957 MONDO:0005341 True sarcomatoid basal cell carcinoma skin basal cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002958 MONDO:0005341 True signet ring basal cell carcinoma skin basal cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002961 MONDO:0002093 True large cell acanthoma acanthoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002962 MONDO:0002093 True epidermolytic acanthoma acanthoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002963 MONDO:0002093 True acantholytic acanthoma acanthoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002944 MONDO:0003574 True external ear carcinoma external ear cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002945 MONDO:0005341 True micronodular basal cell carcinoma skin basal cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002946 MONDO:0002263 True gynatresia female reproductive system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002947 MONDO:0005341 True adamantinoid basal cell epithelioma skin basal cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002948 MONDO:0005341 True skin fibroepithelial basal cell carcinoma skin basal cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002949 MONDO:0005341 True morpheaform basal cell carcinoma skin basal cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002950 MONDO:0005341 True skin clear cell basal cell carcinoma skin basal cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002951 MONDO:0005341 True skin adenoid basal cell carcinoma skin basal cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002952 MONDO:0005341 True follicular basal cell carcinoma skin basal cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002953 MONDO:0005341 True skin infiltrative basal cell carcinoma skin basal cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002954 MONDO:0005341 True superficial multifocal basal cell carcinoma skin basal cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002955 MONDO:0005341 True vulva basal cell carcinoma skin basal cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002956 MONDO:0005341 True skin cystic basal cell carcinoma skin basal cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002957 MONDO:0005341 True sarcomatoid basal cell carcinoma skin basal cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002958 MONDO:0005341 True signet ring basal cell carcinoma skin basal cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002959 MONDO:0003620 True radiculopathy peripheral nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002961 MONDO:0002093 True large cell acanthoma acanthoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002962 MONDO:0002093 True epidermolytic acanthoma acanthoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002963 MONDO:0002093 True acantholytic acanthoma acanthoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0002966 MONDO:0001023 True splenic manifestation of prolymphocytic leukemia prolymphocytic leukemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002966 MONDO:0004107 True splenic manifestation of prolymphocytic leukemia splenic manifestation of leukemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002967 MONDO:0004678 True dermatophytosis of scalp or beard dermatophytosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002966 MONDO:0004107 True splenic manifestation of prolymphocytic leukemia splenic manifestation of leukemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002967 MONDO:0004678 True dermatophytosis of scalp or beard dermatophytosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002968 MONDO:0005833 True lymphocele lymphatic system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002969 MONDO:0002658 True ciliary body cancer iris cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0002969 MONDO:0021229 True ciliary body cancer ciliary body neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002971 MONDO:0005105 True amelanotic melanoma melanoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002973 MONDO:0005105 True epithelioid cell melanoma melanoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002974 MONDO:0002715 True cervical cancer uterine cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002970 MONDO:0002289 True ciliary body disorder iris disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002971 MONDO:0005105 True amelanotic melanoma melanoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002972 MONDO:0005843 True posterior mediastinum cancer mediastinal cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002973 MONDO:0005105 True epithelioid cell melanoma melanoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002974 MONDO:0002715 True cervical cancer uterine cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0002974 MONDO:0021230 True cervical cancer uterine cervix neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0002975 MONDO:0005105 True malignant breast melanoma melanoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002975 MONDO:0007254 True malignant breast melanoma breast cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002977 MONDO:0005071 True autoimmune disorder of the nervous system nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002977 MONDO:0007179 True autoimmune disorder of the nervous system autoimmune disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002978 MONDO:0002580 True orbit alveolar rhabdomyosarcoma orbit rhabdomyosarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002979 MONDO:0005096 True papillary squamous carcinoma squamous cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002975 MONDO:0007254 True malignant breast melanoma breast cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002976 MONDO:0004298 True stomach diverticulosis stomach disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002977 MONDO:0005071 True autoimmune disorder of the nervous system nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002977 MONDO:0007179 True autoimmune disorder of the nervous system autoimmune disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002978 MONDO:0002580 True orbit alveolar rhabdomyosarcoma orbit rhabdomyosarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002979 MONDO:0005096 True papillary squamous carcinoma squamous cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0002979 MONDO:0006509 True papillary squamous carcinoma papillary carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002981 MONDO:0002129 True peripheral primitive neuroectodermal tumor of bone bone cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002981 MONDO:0002129 True peripheral primitive neuroectodermal tumor of bone bone cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0002981 MONDO:0018271 True peripheral primitive neuroectodermal tumor of bone peripheral primitive neuroectodermal tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0002981 MONDO:0021123 True peripheral primitive neuroectodermal tumor of bone Ewing sarcoma/peripheral primitive neuroectodermal tumor of bone UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0002982 MONDO:0018271 True peripheral primitive neuroectodermal tumor of soft tissues peripheral primitive neuroectodermal tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0002982 MONDO:0021039 True peripheral primitive neuroectodermal tumor of soft tissues extraskeletal Ewing sarcoma/peripheral primitive neuroectodermal tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002987 MONDO:0002406 True spongiotic dermatitis dermatitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002984 MONDO:0002637 True reticulohistiocytic granuloma histiocytosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002987 MONDO:0002406 True spongiotic dermatitis dermatitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0002988 MONDO:0000544 True cervix melanoma mucosal melanoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002988 MONDO:0002974 True cervix melanoma cervical cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002989 MONDO:0005509 True benign fibrous histiocytoma histiocytoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002988 MONDO:0002974 True cervix melanoma cervical cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002989 MONDO:0005509 True benign fibrous histiocytoma histiocytoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0002990 MONDO:0002989 True benign deep fibrous histiocytoma benign fibrous histiocytoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0002991 MONDO:0001416 True adenocarcinofibroma female reproductive organ cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002991 MONDO:0005853 True adenocarcinofibroma malignant mixed neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002991 MONDO:0005853 True adenocarcinofibroma malignant mixed neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0002993 MONDO:0002994 True pancreatic somatostatinoma pancreatic delta cell neuroendocrine tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0002994 MONDO:0005626 True pancreatic delta cell neuroendocrine tumor epithelial neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0002994 MONDO:0019954 True pancreatic delta cell neuroendocrine tumor pancreatic neuroendocrine tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0002995 MONDO:0000386 True small intestine neuroendocrine tumor, well differentiated, low or intermediate grade digestive system neuroendocrine tumor, grade 1/2 UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0002995 MONDO:0018510 True small intestine neuroendocrine tumor, well differentiated, low or intermediate grade small intestine neuroendocrine neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0002996 MONDO:0002998 True cavernous sinus meningioma skull base meningioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002997 MONDO:0016642 True anterior cranial fossa meningioma meningioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002998 MONDO:0002785 True skull base meningioma skull base neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002997 MONDO:0016642 True anterior cranial fossa meningioma meningioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002998 MONDO:0002785 True skull base meningioma skull base neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0002998 MONDO:0016642 True skull base meningioma meningioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002999 MONDO:0002714 True central nervous system germinoma central nervous system cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002999 MONDO:0003000 True central nervous system germinoma central nervous system germ cell tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002999 MONDO:0002714 True central nervous system germinoma central nervous system cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002999 MONDO:0003000 True central nervous system germinoma central nervous system germ cell tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0003000 MONDO:0006130 True central nervous system germ cell tumor central nervous system neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0003000 MONDO:0018201 True central nervous system germ cell tumor extragonadal germ cell tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0003001 MONDO:0006290 True seminoma malignant germ cell tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0003001 MONDO:0020580 True seminoma germinomatous germ cell tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0003003 MONDO:0011655 True cervical alveolar soft part sarcoma alveolar soft part sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003004 MONDO:0004580 True macular degeneration retinal degeneration UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003004 MONDO:0004580 True macular degeneration retinal degeneration UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003005 MONDO:0004037 True macular retinal edema retinal edema UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0003007 MONDO:0005549 True childhood kidney cell carcinoma renal cell adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0003007 MONDO:0036511 True childhood kidney cell carcinoma childhood malignant kidney neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0003008 MONDO:0005549 True hereditary renal cell carcinoma renal cell adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0003009 MONDO:0006640 True hyperaldosteronism adrenal gland hyperfunction UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003010 MONDO:0005005 True multilocular clear cell renal cell carcinoma clear cell renal carcinoma UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003011 MONDO:0005086 True mucinous tubular and spindle renal cell carcinoma renal cell carcinoma UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0003012 MONDO:0005549 True sarcomatoid renal cell carcinoma renal cell adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0003012 MONDO:0006406 True sarcomatoid renal cell carcinoma sarcomatoid carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003014 MONDO:0002232 True rhinitis nasal cavity disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003019 MONDO:0005137 True potassium deficiency disease nutritional disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003021 MONDO:0002217 True central nervous system angiosarcoma central nervous system sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003014 MONDO:0002232 True rhinitis nasal cavity disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003017 MONDO:0002087 True malignant peritoneal solitary fibrous tumor peritoneum cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003021 MONDO:0002217 True central nervous system angiosarcoma central nervous system sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0003021 MONDO:0016982 True central nervous system angiosarcoma angiosarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003022 MONDO:0006517 True pediatric angiosarcoma childhood malignant neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003022 MONDO:0016982 True pediatric angiosarcoma angiosarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003023 MONDO:0016982 True aorta angiosarcoma angiosarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003024 MONDO:0002490 True breast angiosarcoma breast sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003022 MONDO:0016982 True pediatric angiosarcoma angiosarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003023 MONDO:0016982 True aorta angiosarcoma angiosarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003024 MONDO:0002490 True breast angiosarcoma breast sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0003024 MONDO:0016982 True breast angiosarcoma angiosarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003025 MONDO:0016982 True conventional angiosarcoma angiosarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003025 MONDO:0016982 True conventional angiosarcoma angiosarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0003026 MONDO:0002857 True gallbladder angiosarcoma gallbladder sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003026 MONDO:0016982 True gallbladder angiosarcoma angiosarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003027 MONDO:0003028 True thyroid gland angiosarcoma thyroid sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003026 MONDO:0016982 True gallbladder angiosarcoma angiosarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003027 MONDO:0003028 True thyroid gland angiosarcoma thyroid sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0003027 MONDO:0016982 True thyroid gland angiosarcoma angiosarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003028 MONDO:0002108 True thyroid sarcoma thyroid cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003028 MONDO:0002108 True thyroid sarcoma thyroid cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0003028 MONDO:0018078 True thyroid sarcoma soft tissue sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003029 MONDO:0006414 True skin angiosarcoma skin sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003029 MONDO:0006414 True skin angiosarcoma skin sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0003029 MONDO:0016982 True skin angiosarcoma angiosarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003030 MONDO:0003031 True endometrioid stromal sarcoma of the cervix endometrioid stromal and related neoplasms of the cervix UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0003031 MONDO:0021148 True endometrioid stromal and related neoplasms of the cervix female reproductive system neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003032 MONDO:0016982 True superior vena cava angiosarcoma angiosarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003033 MONDO:0002854 True prostate angiosarcoma prostate sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003032 MONDO:0004634 True superior vena cava angiosarcoma vein disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003032 MONDO:0016982 True superior vena cava angiosarcoma angiosarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003033 MONDO:0002854 True prostate angiosarcoma prostate sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0003033 MONDO:0016982 True prostate angiosarcoma angiosarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003034 MONDO:0002852 True mediastinum angiosarcoma mediastinum sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003034 MONDO:0016982 True mediastinum angiosarcoma angiosarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003034 MONDO:0016982 True mediastinum angiosarcoma angiosarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0003035 MONDO:0002225 True ovarian angiosarcoma ovarian sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003035 MONDO:0016982 True ovarian angiosarcoma angiosarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003037 MONDO:0002917 True hypotrichosis disorder of pilosebaceous unit UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003035 MONDO:0016982 True ovarian angiosarcoma angiosarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003037 MONDO:0002917 True hypotrichosis disorder of pilosebaceous unit UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003038 MONDO:0000599 True dysgraphia writing disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003039 MONDO:0000598 True nominal aphasia aphasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003040 MONDO:0001152 True retrograde amnesia amnestic disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0003041 MONDO:0006517 True pediatric mesenchymal chondrosarcoma childhood malignant neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003041 MONDO:0006853 True pediatric mesenchymal chondrosarcoma mesenchymal chondrosarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003042 MONDO:0006853 True adult mesenchymal chondrosarcoma mesenchymal chondrosarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003046 MONDO:0002519 True anus neoplasm anus disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003041 MONDO:0006853 True pediatric mesenchymal chondrosarcoma mesenchymal chondrosarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003042 MONDO:0006853 True adult mesenchymal chondrosarcoma mesenchymal chondrosarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003045 MONDO:0003046 True anal gland neoplasm anus neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003046 MONDO:0002519 True anus neoplasm anus disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0003047 MONDO:0005057 True thymic large cell neuroendocrine carcinoma large cell neuroendocrine carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003047 MONDO:0020516 True thymic large cell neuroendocrine carcinoma thymic neuroendocrine carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0003049 MONDO:0002481 True ovarian large-cell neuroendocrine carcinoma ovarian neuroendocrine neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003049 MONDO:0005057 True ovarian large-cell neuroendocrine carcinoma large cell neuroendocrine carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003049 MONDO:0005140 True ovarian large-cell neuroendocrine carcinoma ovarian carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003049 MONDO:0005140 True ovarian large-cell neuroendocrine carcinoma ovarian carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0003050 MONDO:0005232 True lung large cell carcinoma large cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003050 MONDO:0005233 True lung large cell carcinoma non-small cell lung carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003051 MONDO:0024279 True non specific chronic endometritis chronic endometritis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003052 MONDO:0024279 True granulomatous endometritis chronic endometritis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0003050 MONDO:0005233 True lung large cell carcinoma non-small cell lung carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003053 MONDO:0002681 True choroid plexus meningioma choroid plexus cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0003054 MONDO:0016642 True benign meningioma meningioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003054 MONDO:0021527 True benign meningioma benign neoplasm of meninges UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003055 MONDO:0016642 True secretory meningioma meningioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003056 MONDO:0016642 True lymphoplasmacyte-rich meningioma meningioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003057 MONDO:0016642 True pediatric meningioma meningioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003055 MONDO:0016642 True secretory meningioma meningioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003056 MONDO:0016642 True lymphoplasmacyte-rich meningioma meningioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003057 MONDO:0016642 True pediatric meningioma meningioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0003057 MONDO:0021079 True pediatric meningioma childhood neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003058 MONDO:0016642 True microcystic meningioma meningioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003058 MONDO:0016642 True microcystic meningioma meningioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003059 MONDO:0003060 True bile duct cancer biliary tract cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003061 MONDO:0000636 True benign muscle neoplasm musculoskeletal system benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0003061 MONDO:0021545 True benign muscle neoplasm myomatous neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0003062 MONDO:0000385 True intestinal benign neoplasm benign digestive system neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0003062 MONDO:0021118 True intestinal benign neoplasm intestinal neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0003064 MONDO:0002537 True inverted transitional cell papilloma inverted papilloma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003064 MONDO:0005605 True inverted transitional cell papilloma transitional cell papilloma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003065 MONDO:0004756 True nasal cavity inverting papilloma nasal cavity neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003067 MONDO:0002052 True cervical lymphadenitis lymphadenitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003068 MONDO:0002052 True postauricular lymphadenitis lymphadenitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003069 MONDO:0002052 True suppurative lymphadenitis lymphadenitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003070 MONDO:0002052 True axillary lymphadenitis lymphadenitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003072 MONDO:0002236 True retinal cancer ocular cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003064 MONDO:0005605 True inverted transitional cell papilloma transitional cell papilloma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003065 MONDO:0004756 True nasal cavity inverting papilloma nasal cavity neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003066 MONDO:0003067 True submandibular adenitis cervical lymphadenitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003067 MONDO:0002052 True cervical lymphadenitis lymphadenitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003068 MONDO:0002052 True postauricular lymphadenitis lymphadenitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003069 MONDO:0002052 True suppurative lymphadenitis lymphadenitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003070 MONDO:0002052 True axillary lymphadenitis lymphadenitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003072 MONDO:0002236 True retinal cancer ocular cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0003072 MONDO:0021231 True retinal cancer retina neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003073 MONDO:0008380 True trilateral retinoblastoma retinoblastoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003075 MONDO:0008380 True bilateral retinoblastoma retinoblastoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003076 MONDO:0008380 True unilateral retinoblastoma retinoblastoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003077 MONDO:0008380 True intraocular retinoblastoma retinoblastoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003078 MONDO:0008380 True extraocular retinoblastoma retinoblastoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003073 MONDO:0008380 True trilateral retinoblastoma retinoblastoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003075 MONDO:0008380 True bilateral retinoblastoma retinoblastoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003076 MONDO:0008380 True unilateral retinoblastoma retinoblastoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003077 MONDO:0008380 True intraocular retinoblastoma retinoblastoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003078 MONDO:0008380 True extraocular retinoblastoma retinoblastoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0003079 MONDO:0002724 True mastocytoma mast cell neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003081 MONDO:0005560 True thalamic disorder brain disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003083 MONDO:0006500 True venous hemangioma hemangioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003084 MONDO:0005244 True uremic neuropathy peripheral neuropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003085 MONDO:0000942 True keratitis corneal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003086 MONDO:0003036 True thymic mucoepidermoid carcinoma mucoepidermoid carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003081 MONDO:0005560 True thalamic disorder brain disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003082 MONDO:0003085 True filamentary keratitis keratitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003083 MONDO:0006500 True venous hemangioma hemangioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003084 MONDO:0007008 True uremic neuropathy uremia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003085 MONDO:0000942 True keratitis corneal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003086 MONDO:0003036 True thymic mucoepidermoid carcinoma mucoepidermoid carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0003087 MONDO:0003036 True mucoepidermoid breast carcinoma mucoepidermoid carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003087 MONDO:0006256 True mucoepidermoid breast carcinoma invasive breast carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0003088 MONDO:0003096 True intramuscular hemangioma deep hemangioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003089 MONDO:0003036 True extrahepatic bile duct mucoepidermoid carcinoma mucoepidermoid carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003090 MONDO:0005496 True extrahepatic bile duct carcinoma bile duct carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003089 MONDO:0003036 True extrahepatic bile duct mucoepidermoid carcinoma mucoepidermoid carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003090 MONDO:0005496 True extrahepatic bile duct carcinoma bile duct carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0003090 MONDO:0021321 True extrahepatic bile duct carcinoma malignant tumor of extrahepatic bile duct UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003091 MONDO:0002656 True cutaneous mucoepidermoid carcinoma skin carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003091 MONDO:0002656 True cutaneous mucoepidermoid carcinoma skin carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0003091 MONDO:0003036 True cutaneous mucoepidermoid carcinoma mucoepidermoid carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003092 MONDO:0003036 True lacrimal gland mucoepidermoid carcinoma mucoepidermoid carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003092 MONDO:0003036 True lacrimal gland mucoepidermoid carcinoma mucoepidermoid carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0003093 MONDO:0003036 True mucoepidermoid esophageal carcinoma mucoepidermoid carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003095 MONDO:0002358 True laryngeal mucoepidermoid carcinoma laryngeal carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003095 MONDO:0003036 True laryngeal mucoepidermoid carcinoma mucoepidermoid carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003096 MONDO:0006500 True deep hemangioma hemangioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003097 MONDO:0003098 True childhood mediastinal neurogenic neoplasm mediastinal neural neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003095 MONDO:0003036 True laryngeal mucoepidermoid carcinoma mucoepidermoid carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003096 MONDO:0006500 True deep hemangioma hemangioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003097 MONDO:0003098 True childhood mediastinal neurogenic neoplasm mediastinal neural neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0003097 MONDO:0021079 True childhood mediastinal neurogenic neoplasm childhood neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0003098 MONDO:0021386 True mediastinal neural neoplasm neoplasm of mediastinum UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003100 MONDO:0001406 True nerve plexus neoplasm peripheral nervous system neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003100 MONDO:0001406 True nerve plexus neoplasm peripheral nervous system neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003103 MONDO:0001406 True nerve root neoplasm peripheral nervous system neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003104 MONDO:0001322 True epicardium cancer pericardium cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0003104 MONDO:0021379 True epicardium cancer neoplasm of epicardium UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003105 MONDO:0003150 True prostate disorder male reproductive system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003107 MONDO:0001657 True infratentorial cancer brain cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003105 MONDO:0003150 True prostate disorder male reproductive system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003107 MONDO:0001657 True infratentorial cancer brain cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0003108 MONDO:0021234 True cervicomedullary junction neoplasm spinal cord neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003109 MONDO:0002998 True foramen magnum meningioma skull base meningioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003110 MONDO:0006500 True skin hemangioma hemangioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003109 MONDO:0002998 True foramen magnum meningioma skull base meningioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003110 MONDO:0006500 True skin hemangioma hemangioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0003111 MONDO:0021085 True gastric neuroendocrine neoplasm gastric neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003111 MONDO:0024503 True gastric neuroendocrine neoplasm digestive system neuroendocrine neoplasm UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003112 MONDO:0001056 True malignant gastric germ cell tumor gastric cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003111 MONDO:0024503 True gastric neuroendocrine neoplasm digestive system neuroendocrine neoplasm UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0003112 MONDO:0001056 True malignant gastric germ cell tumor gastric cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0003112 MONDO:0003113 True malignant gastric germ cell tumor extragonadal germ cell cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003113 MONDO:0006290 True extragonadal germ cell cancer malignant germ cell tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0003113 MONDO:0018201 True extragonadal germ cell cancer extragonadal germ cell tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003115 MONDO:0006500 True subglottic hemangioma hemangioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003115 MONDO:0006500 True subglottic hemangioma hemangioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0003115 MONDO:0021530 True subglottic hemangioma benign neoplasm of subglottis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003117 MONDO:0002025 True somatoform disorder psychiatric disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003118 MONDO:0021348 True testicular Brenner tumor neoplasm of testis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0003117 MONDO:0002025 True somatoform disorder psychiatric disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0003118 MONDO:0024235 True testicular Brenner tumor Brenner tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003120 MONDO:0003510 True mixed testicular germ cell cancer malignant testicular germ cell tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003120 MONDO:0003510 True mixed testicular germ cell cancer malignant testicular germ cell tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0003120 MONDO:0015864 True mixed testicular germ cell cancer mixed germ cell tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003121 MONDO:0016642 True middle cranial fossa meningioma meningioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003122 MONDO:0007803 True striatonigral degeneration multiple system atrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003124 MONDO:0003125 True testicular Leydig cell tumor testicular sex cord-stromal neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003121 MONDO:0016642 True middle cranial fossa meningioma meningioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003122 MONDO:0007803 True striatonigral degeneration multiple system atrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003124 MONDO:0003125 True testicular Leydig cell tumor testicular sex cord-stromal neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0003124 MONDO:0006266 True testicular Leydig cell tumor Leydig cell tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003125 MONDO:0006055 True testicular sex cord-stromal neoplasm sex cord-stromal tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003125 MONDO:0006055 True testicular sex cord-stromal neoplasm sex cord-stromal tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0003125 MONDO:0021348 True testicular sex cord-stromal neoplasm neoplasm of testis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003126 MONDO:0000620 True breast hemangioma breast benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003126 MONDO:0000620 True breast hemangioma breast benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0003126 MONDO:0006500 True breast hemangioma hemangioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003133 MONDO:0002462 True exudative glomerulonephritis glomerulonephritis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003134 MONDO:0002462 True proliferative glomerulonephritis glomerulonephritis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003135 MONDO:0002462 True focal embolic glomerulonephritis glomerulonephritis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003136 MONDO:0002462 True anti-basement membrane glomerulonephritis glomerulonephritis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003137 MONDO:0002462 True diffuse glomerulonephritis glomerulonephritis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003138 MONDO:0002462 True subacute glomerulonephritis glomerulonephritis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003139 MONDO:0002462 True mesangial proliferative glomerulonephritis glomerulonephritis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003140 MONDO:0002462 True immune-complex glomerulonephritis glomerulonephritis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003141 MONDO:0002553 True cerebellopontine angle embryonal tumor cerebellopontine angle tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003141 MONDO:0003107 True cerebellopontine angle embryonal tumor infratentorial cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003142 MONDO:0000640 True intracranial primitive neuroectodermal tumor central nervous system primitive neuroectodermal neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003142 MONDO:0001657 True intracranial primitive neuroectodermal tumor brain cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003145 MONDO:0002071 True supratentorial primitive neuroectodermal tumor supratentorial cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003150 MONDO:0005039 True male reproductive system disorder reproductive system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003152 MONDO:0003153 True adult brainstem gliosarcoma adult brainstem glioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003153 MONDO:0002911 True adult brainstem glioma brain stem glioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003128 MONDO:0005933 True classic pulmonary blastoma pulmonary blastoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003129 MONDO:0005933 True epithelial predominant pulmonary blastoma pulmonary blastoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003133 MONDO:0002462 True exudative glomerulonephritis glomerulonephritis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003134 MONDO:0002462 True proliferative glomerulonephritis glomerulonephritis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003135 MONDO:0002462 True focal embolic glomerulonephritis glomerulonephritis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003137 MONDO:0002462 True diffuse glomerulonephritis glomerulonephritis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003138 MONDO:0002462 True subacute glomerulonephritis glomerulonephritis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003139 MONDO:0002462 True mesangial proliferative glomerulonephritis glomerulonephritis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003140 MONDO:0002462 True immune-complex glomerulonephritis glomerulonephritis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003141 MONDO:0002553 True cerebellopontine angle embryonal tumor cerebellopontine angle tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003141 MONDO:0003107 True cerebellopontine angle embryonal tumor infratentorial cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003142 MONDO:0000640 True intracranial primitive neuroectodermal tumor central nervous system primitive neuroectodermal neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003142 MONDO:0001657 True intracranial primitive neuroectodermal tumor brain cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003143 MONDO:0003110 True angiokeratoma skin hemangioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003145 MONDO:0002071 True supratentorial primitive neuroectodermal tumor supratentorial cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003147 MONDO:0008015 True space motion sickness motion sickness UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003150 MONDO:0005039 True male reproductive system disorder reproductive system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003152 MONDO:0003153 True adult brainstem gliosarcoma adult brainstem glioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003153 MONDO:0002911 True adult brainstem glioma brain stem glioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0003153 MONDO:0024797 True adult brainstem glioma adult brain stem neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0003154 MONDO:0056804 True hemangioma of peripheral nerve benign neoplasm of peripheral nervous system UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003155 MONDO:0003159 True cavernous hemangioma vascular hemostatic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0003155 MONDO:0006500 True cavernous hemangioma hemangioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003157 MONDO:0002254 True disappearing bone disease syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0003158 MONDO:0002380 True malignant myoepithelioma myoepithelial tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003158 MONDO:0004993 True malignant myoepithelioma carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003163 MONDO:0003164 True cauda equina intradural extramedullary astrocytoma cauda equina neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003158 MONDO:0004993 True malignant myoepithelioma carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003159 MONDO:0002243 True vascular hemostatic disease hemorrhagic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003163 MONDO:0003164 True cauda equina intradural extramedullary astrocytoma cauda equina neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0003163 MONDO:0019781 True cauda equina intradural extramedullary astrocytoma astrocytoma (excluding glioblastoma) UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0003164 MONDO:0003103 True cauda equina neoplasm nerve root neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003165 MONDO:0002913 True cerebellar astrocytoma cerebellar neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003165 MONDO:0002913 True cerebellar astrocytoma cerebellar neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0003165 MONDO:0021631 True cerebellar astrocytoma brain astrocytoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003168 MONDO:0003165 True cerebellar pilocytic astrocytoma cerebellar astrocytoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003168 MONDO:0003165 True cerebellar pilocytic astrocytoma cerebellar astrocytoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0003168 MONDO:0016691 True cerebellar pilocytic astrocytoma pilocytic astrocytoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003168 MONDO:0021499 True cerebellar pilocytic astrocytoma benign neoplasm of cerebellum UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0003169 MONDO:0002786 True diencephalic astrocytomas diencephalic cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0003169 MONDO:0021631 True diencephalic astrocytomas brain astrocytoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003170 MONDO:0021636 True gliofibroma astrocytic tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003172 MONDO:0006500 True glomeruloid hemangioma hemangioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003173 MONDO:0002911 True brain stem astrocytic neoplasm brain stem glioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003170 MONDO:0021636 True gliofibroma astrocytic tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003171 MONDO:0003249 True pineal gland astrocytoma pineal gland cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003172 MONDO:0006500 True glomeruloid hemangioma hemangioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003173 MONDO:0002911 True brain stem astrocytic neoplasm brain stem glioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0003173 MONDO:0021631 True brain stem astrocytic neoplasm brain astrocytoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003174 MONDO:0002542 True spinal cord astrocytoma spinal cord glioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003174 MONDO:0002542 True spinal cord astrocytoma spinal cord glioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0003174 MONDO:0019781 True spinal cord astrocytoma astrocytoma (excluding glioblastoma) UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003175 MONDO:0000521 True salivary gland adenoid cystic carcinoma salivary gland carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003175 MONDO:0000521 True salivary gland adenoid cystic carcinoma salivary gland carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0003175 MONDO:0004971 True salivary gland adenoid cystic carcinoma adenoid cystic carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003177 MONDO:0004971 True prostate adenoid cystic carcinoma adenoid cystic carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003180 MONDO:0004971 True cutaneous adenocystic carcinoma adenoid cystic carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003180 MONDO:0005524 True cutaneous adenocystic carcinoma sweat gland carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003181 MONDO:0004971 True lung adenoid cystic carcinoma adenoid cystic carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003184 MONDO:0001407 True trachea carcinoma tracheal cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003184 MONDO:0004993 True trachea carcinoma carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003184 MONDO:0001407 True trachea carcinoma tracheal cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003184 MONDO:0004993 True trachea carcinoma carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0003185 MONDO:0004971 True adenoid cystic breast carcinoma adenoid cystic carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003185 MONDO:0006256 True adenoid cystic breast carcinoma invasive breast carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0003186 MONDO:0004971 True esophageal adenoid cystic carcinoma adenoid cystic carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003187 MONDO:0004971 True Bartholin gland adenoid cystic carcinoma adenoid cystic carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003189 MONDO:0003190 True middle ear adenocarcinoma middle ear carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003189 MONDO:0004970 True middle ear adenocarcinoma adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003189 MONDO:0003190 True middle ear adenocarcinoma middle ear carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003189 MONDO:0004970 True middle ear adenocarcinoma adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0003190 MONDO:0002038 True middle ear carcinoma head and neck carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003190 MONDO:0003275 True middle ear carcinoma middle ear cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003190 MONDO:0003275 True middle ear carcinoma middle ear cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003191 MONDO:0002752 True rete ovarii adenocarcinoma ovarian adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0003191 MONDO:0003192 True rete ovarii adenocarcinoma rete ovarii neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003193 MONDO:0004970 True bile duct adenocarcinoma adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003193 MONDO:0005496 True bile duct adenocarcinoma bile duct carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003196 MONDO:0001235 True appendix carcinoma appendix cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003193 MONDO:0004970 True bile duct adenocarcinoma adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003193 MONDO:0005496 True bile duct adenocarcinoma bile duct carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003194 MONDO:0002732 True hemangioma of lung lung benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003194 MONDO:0006500 True hemangioma of lung hemangioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003195 MONDO:0002113 True peritoneal serous adenocarcinoma peritoneal carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003196 MONDO:0001235 True appendix carcinoma appendix cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0003197 MONDO:0004970 True granular cell carcinoma adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003198 MONDO:0004970 True small intestine adenocarcinoma adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003198 MONDO:0005522 True small intestine adenocarcinoma small intestine carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003199 MONDO:0001879 True anal carcinoma anus cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003200 MONDO:0004970 True urethra adenocarcinoma adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003198 MONDO:0004970 True small intestine adenocarcinoma adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003198 MONDO:0005522 True small intestine adenocarcinoma small intestine carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003199 MONDO:0001879 True anal carcinoma anus cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003200 MONDO:0004970 True urethra adenocarcinoma adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0003200 MONDO:0021327 True urethra adenocarcinoma carcinoma of urethra UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003204 MONDO:0004970 True villous adenocarcinoma adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003205 MONDO:0005519 True renal pelvis adenocarcinoma renal pelvis carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003206 MONDO:0006500 True acquired hemangioma hemangioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003209 MONDO:0004970 True thymus gland adenocarcinoma adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003209 MONDO:0006451 True thymus gland adenocarcinoma thymic carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003210 MONDO:0019087 True intrahepatic cholangiocarcinoma cholangiocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003211 MONDO:0003212 True nasal cavity adenocarcinoma nasal cavity carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003211 MONDO:0004970 True nasal cavity adenocarcinoma adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003212 MONDO:0001128 True nasal cavity carcinoma nasal cavity cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003202 MONDO:0017582 True pituitary gland basophilic carcinoma pituitary adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003204 MONDO:0004970 True villous adenocarcinoma adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003205 MONDO:0005519 True renal pelvis adenocarcinoma renal pelvis carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003206 MONDO:0006500 True acquired hemangioma hemangioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003209 MONDO:0004970 True thymus gland adenocarcinoma adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003209 MONDO:0006451 True thymus gland adenocarcinoma thymic carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003210 MONDO:0019087 True intrahepatic cholangiocarcinoma cholangiocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003211 MONDO:0003212 True nasal cavity adenocarcinoma nasal cavity carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003211 MONDO:0004970 True nasal cavity adenocarcinoma adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003212 MONDO:0001128 True nasal cavity carcinoma nasal cavity cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0003212 MONDO:0002038 True nasal cavity carcinoma head and neck carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003214 MONDO:0003215 True apocrine adenocarcinoma apocrine sweat gland cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003214 MONDO:0003215 True apocrine adenocarcinoma apocrine sweat gland cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0003214 MONDO:0005524 True apocrine adenocarcinoma sweat gland carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003215 MONDO:0002206 True apocrine sweat gland cancer sweat gland cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003215 MONDO:0002206 True apocrine sweat gland cancer sweat gland cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0003215 MONDO:0003686 True apocrine sweat gland cancer apocrine sweat gland neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003216 MONDO:0004970 True ureter adenocarcinoma adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003216 MONDO:0006481 True ureter adenocarcinoma ureter carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003218 MONDO:0004647 True adenocarcinoma in situ in situ carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003216 MONDO:0004970 True ureter adenocarcinoma adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003216 MONDO:0006481 True ureter adenocarcinoma ureter carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003218 MONDO:0004647 True adenocarcinoma in situ in situ carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0003218 MONDO:0004970 True adenocarcinoma in situ adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003219 MONDO:0004970 True gastroesophageal junction adenocarcinoma adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003219 MONDO:0004970 True gastroesophageal junction adenocarcinoma adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0003219 MONDO:0006181 True gastroesophageal junction adenocarcinoma digestive system carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003220 MONDO:0005411 True gallbladder carcinoma gallbladder cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003220 MONDO:0005411 True gallbladder carcinoma gallbladder cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0003220 MONDO:0006181 True gallbladder carcinoma digestive system carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003222 MONDO:0002714 True central nervous system melanocytic neoplasm central nervous system cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0003222 MONDO:0021143 True central nervous system melanocytic neoplasm melanocytic neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003234 MONDO:0003235 True optic nerve astrocytoma optic nerve glioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003223 MONDO:0005094 True meninges hemangiopericytoma hemangiopericytoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003225 MONDO:0005570 True bone marrow disorder hematologic disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003227 MONDO:0005638 True prosopagnosia agnosia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003231 MONDO:0017373 True acute nonparalytic poliomyelitis poliomyelitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003232 MONDO:0004982 True alcoholic pancreatitis pancreatitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003233 MONDO:0005395 True essential tremor movement disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003234 MONDO:0002433 True optic nerve astrocytoma malignant cranial nerve neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003234 MONDO:0003235 True optic nerve astrocytoma optic nerve glioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0003234 MONDO:0024649 True optic nerve astrocytoma optic tract astrocytoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003235 MONDO:0002640 True optic nerve glioma optic nerve neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003235 MONDO:0002640 True optic nerve glioma optic nerve neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0003235 MONDO:0016167 True optic nerve glioma optic pathway glioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003236 MONDO:0005635 True atypical polypoid adenomyoma adenomyoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003236 MONDO:0005635 True atypical polypoid adenomyoma adenomyoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0003237 MONDO:0005635 True adenomyoma of uterine corpus adenomyoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003237 MONDO:0021525 True adenomyoma of uterine corpus benign neoplasm of corpus uteri UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0003238 MONDO:0005635 True cervical adenomyoma adenomyoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003241 MONDO:0006500 True central nervous system hemangioma hemangioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003240 MONDO:0005151 True thyroid gland disorder endocrine system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003241 MONDO:0000628 True central nervous system hemangioma central nervous system organ benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003241 MONDO:0006500 True central nervous system hemangioma hemangioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0003243 MONDO:0005004 True hepatocellular clear cell carcinoma clear cell adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003243 MONDO:0007256 True hepatocellular clear cell carcinoma hepatocellular carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003243 MONDO:0007256 True hepatocellular clear cell carcinoma hepatocellular carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0003244 MONDO:0006424 True central nervous system mesenchymal non-meningothelial tumor soft tissue neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003245 MONDO:0007256 True aflatoxin-related hepatocellular carcinoma hepatocellular carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003246 MONDO:0007256 True sclerosing hepatic carcinoma hepatocellular carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003245 MONDO:0007256 True aflatoxin-related hepatocellular carcinoma hepatocellular carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003246 MONDO:0007256 True sclerosing hepatic carcinoma hepatocellular carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0003248 MONDO:0024890 True adult pineal parenchymal tumor pineal parenchymal cell neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0003249 MONDO:0021069 True pineal gland cancer malignant endocrine neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0003249 MONDO:0021232 True pineal gland cancer pineal body neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0003250 MONDO:0006235 True benign granular cell tumor granular cell tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003251 MONDO:0006235 True esophageal granular cell tumor granular cell tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS @@ -1788,791 +2863,886 @@ MONDO:0003253 MONDO:0006235 True vulvar granular cell tumor granular cell tumor MONDO:0003253 MONDO:0021049 True vulvar granular cell tumor vulvar neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0003255 MONDO:0006235 True mediastinal granular cell myoblastoma granular cell tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003255 MONDO:0021386 True mediastinal granular cell myoblastoma neoplasm of mediastinum UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003256 MONDO:0003257 True neurohypophysis granular cell tumor posterior pituitary gland neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003256 MONDO:0003257 True neurohypophysis granular cell tumor posterior pituitary gland neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0003256 MONDO:0006235 True neurohypophysis granular cell tumor granular cell tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003257 MONDO:0017611 True posterior pituitary gland neoplasm pituitary tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003258 MONDO:0006500 True hobnail hemangioma hemangioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003260 MONDO:0002913 True adult cerebellar neoplasm cerebellar neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003261 MONDO:0002913 True papillary meningioma of the cerebellum cerebellar neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003258 MONDO:0006500 True hobnail hemangioma hemangioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003260 MONDO:0002913 True adult cerebellar neoplasm cerebellar neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003261 MONDO:0000642 True papillary meningioma of the cerebellum brain meningioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003261 MONDO:0002913 True papillary meningioma of the cerebellum cerebellar neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0003261 MONDO:0021088 True papillary meningioma of the cerebellum papillary meningioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003262 MONDO:0016642 True rhabdoid meningioma meningioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003263 MONDO:0002913 True childhood cerebellar neoplasm cerebellar neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003262 MONDO:0016642 True rhabdoid meningioma meningioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003263 MONDO:0002913 True childhood cerebellar neoplasm cerebellar neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0003263 MONDO:0002915 True childhood cerebellar neoplasm childhood infratentorial neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003264 MONDO:0005341 True basosquamous carcinoma skin basal cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003266 MONDO:0021042 True ependymal tumor glioma UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0003264 MONDO:0005341 True basosquamous carcinoma skin basal cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003266 MONDO:0021042 True ependymal tumor glioma UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0003268 MONDO:0021042 True mixed glioma glioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0003268 MONDO:0021043 True mixed glioma mixed neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0003271 MONDO:0005420 True iodine hypothyroidism hypothyroidism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003273 MONDO:0002129 True sternum cancer bone cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0003273 MONDO:0003274 True sternum cancer thoracic cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003273 MONDO:0021578 True sternum cancer sternal neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003274 MONDO:0004992 True thoracic cancer cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003274 MONDO:0004992 True thoracic cancer cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0003274 MONDO:0021350 True thoracic cancer neoplasm of thorax UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003275 MONDO:0003277 True middle ear cancer malignant ear neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003275 MONDO:0003277 True middle ear cancer malignant ear neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003275 MONDO:0004532 True middle ear cancer auditory system cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0003275 MONDO:0021366 True middle ear cancer neoplasm of middle ear UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003276 MONDO:0002409 True middle ear disorder auditory system disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003276 MONDO:0021205 True middle ear disorder disorder of ear UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0003276 MONDO:0002409 True middle ear disorder auditory system disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003277 MONDO:0000649 True malignant ear neoplasm sensory system cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0003277 MONDO:0005627 True malignant ear neoplasm head and neck cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003277 MONDO:0021233 True malignant ear neoplasm ear neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003279 MONDO:0002329 True testicular infarct testicular disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003278 MONDO:0003277 True inner ear cancer malignant ear neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003278 MONDO:0004532 True inner ear cancer auditory system cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003279 MONDO:0002329 True testicular infarct testicular disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0003281 MONDO:0002379 True ovarian cystic teratoma cystic teratoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003281 MONDO:0011366 True ovarian cystic teratoma ovarian germ cell tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003281 MONDO:0011366 True ovarian cystic teratoma ovarian germ cell tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003282 MONDO:0005558 True ovarian cyst ovarian disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0003283 MONDO:0024582 True epididymal neoplasm male reproductive system neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003284 MONDO:0001572 True mediastinum leiomyoma leiomyoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003284 MONDO:0001572 True mediastinum leiomyoma leiomyoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0003284 MONDO:0021521 True mediastinum leiomyoma benign neoplasm of mediastinum UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003285 MONDO:0000645 True fallopian tube leiomyoma fallopian tube benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003285 MONDO:0001572 True fallopian tube leiomyoma leiomyoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003285 MONDO:0000645 True fallopian tube leiomyoma fallopian tube benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003285 MONDO:0001572 True fallopian tube leiomyoma leiomyoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0003286 MONDO:0021385 True extrahepatic bile duct leiomyoma extrahepatic bile duct neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003287 MONDO:0001572 True central nervous system leiomyoma leiomyoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003288 MONDO:0001572 True bizarre leiomyoma leiomyoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003289 MONDO:0001572 True deep leiomyoma leiomyoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003287 MONDO:0000628 True central nervous system leiomyoma central nervous system organ benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003287 MONDO:0001572 True central nervous system leiomyoma leiomyoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003288 MONDO:0001572 True bizarre leiomyoma leiomyoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003289 MONDO:0001572 True deep leiomyoma leiomyoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003290 MONDO:0005384 True simple partial epilepsy focal epilepsy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0003291 MONDO:0001572 True leiomyoma cutis leiomyoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003291 MONDO:0002300 True leiomyoma cutis dermis tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003291 MONDO:0002300 True leiomyoma cutis dermis tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0003291 MONDO:0021440 True leiomyoma cutis benign neoplasm of skin UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0003292 MONDO:0021469 True anus leiomyoma benign neoplasm of anus UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003293 MONDO:0001572 True lung leiomyoma leiomyoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003293 MONDO:0002732 True lung leiomyoma lung benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003294 MONDO:0001572 True pericardium leiomyoma leiomyoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003293 MONDO:0001572 True lung leiomyoma leiomyoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003293 MONDO:0002732 True lung leiomyoma lung benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003294 MONDO:0001572 True pericardium leiomyoma leiomyoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0003294 MONDO:0021514 True pericardium leiomyoma benign neoplasm of pericardium UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003295 MONDO:0001572 True leiomyomatosis leiomyoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003296 MONDO:0001572 True cellular leiomyoma leiomyoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003297 MONDO:0001572 True gallbladder leiomyoma leiomyoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003297 MONDO:0021503 True gallbladder leiomyoma benign neoplasm of gallbladder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003298 MONDO:0000643 True vulvar leiomyoma vulvar benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003295 MONDO:0001572 True leiomyomatosis leiomyoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003296 MONDO:0001572 True cellular leiomyoma leiomyoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003297 MONDO:0001572 True gallbladder leiomyoma leiomyoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003297 MONDO:0021503 True gallbladder leiomyoma benign neoplasm of gallbladder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003298 MONDO:0000643 True vulvar leiomyoma vulvar benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0003298 MONDO:0001572 True vulvar leiomyoma leiomyoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003299 MONDO:0001572 True colorectal leiomyoma leiomyoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003299 MONDO:0001572 True colorectal leiomyoma leiomyoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0003299 MONDO:0005335 True colorectal leiomyoma colorectal neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0003299 MONDO:0021444 True colorectal leiomyoma benign neoplasm of large intestine UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0003300 MONDO:0021465 True appendix leiomyoma benign neoplasm of appendix UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0003301 MONDO:0003291 True dartoic leiomyoma leiomyoma cutis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003302 MONDO:0016755 True epithelioid neurofibroma neurofibroma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003303 MONDO:0016755 True neurofibroma of gallbladder neurofibroma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003304 MONDO:0016755 True plexiform neurofibroma neurofibroma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003305 MONDO:0016755 True cellular neurofibroma neurofibroma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003306 MONDO:0016755 True atypical neurofibroma neurofibroma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003307 MONDO:0002173 True multiple mucosal neuroma neuroma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003308 MONDO:0005065 True pleural mesothelioma mesothelioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0003302 MONDO:0016755 True epithelioid neurofibroma neurofibroma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003303 MONDO:0005411 True neurofibroma of gallbladder gallbladder cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003303 MONDO:0016755 True neurofibroma of gallbladder neurofibroma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003304 MONDO:0016755 True plexiform neurofibroma neurofibroma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003305 MONDO:0016755 True cellular neurofibroma neurofibroma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003306 MONDO:0016755 True atypical neurofibroma neurofibroma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003307 MONDO:0002173 True multiple mucosal neuroma neuroma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0003308 MONDO:0021065 True pleural mesothelioma pleural neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003310 MONDO:0002277 True Monckeberg arteriosclerosis arteriosclerosis disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003310 MONDO:0002277 True Monckeberg arteriosclerosis arteriosclerosis disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0003312 MONDO:0021068 True ovarian endometrioid stromal and related neoplasms ovarian neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0003312 MONDO:0037742 True ovarian endometrioid stromal and related neoplasms endometrioid stromal and related neoplasms UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0003313 MONDO:0002140 True endometrioid stromal sarcoma of the vagina vagina sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0003314 MONDO:0021050 True endometrioid stromal and related neoplasms of the vagina vaginal neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0003314 MONDO:0037742 True endometrioid stromal and related neoplasms of the vagina endometrioid stromal and related neoplasms UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0003316 MONDO:0019004 True nonanaplastic kidney Wilms tumor kidney Wilms tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003317 MONDO:0019004 True metachronous kidney Wilms' tumor kidney Wilms tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003318 MONDO:0019004 True mixed cell type kidney Wilms' tumor kidney Wilms tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003320 MONDO:0019004 True blastema predominant kidney Wilms tumor kidney Wilms tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003321 MONDO:0019004 True hereditary Wilms tumor kidney Wilms tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003322 MONDO:0019004 True epithelial predominant Wilms' tumor kidney Wilms tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003325 MONDO:0005035 True nodular ganglioneuroblastoma ganglioneuroblastoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003326 MONDO:0005035 True intermixed schwannian stroma-rich ganglioneuroblastoma ganglioneuroblastoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003327 MONDO:0001406 True peripheral ganglioneuroblastoma peripheral nervous system neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003327 MONDO:0005035 True peripheral ganglioneuroblastoma ganglioneuroblastoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003328 MONDO:0000645 True fallopian tube adenomatoid tumor fallopian tube benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003317 MONDO:0019004 True metachronous kidney Wilms' tumor kidney Wilms tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003318 MONDO:0019004 True mixed cell type kidney Wilms' tumor kidney Wilms tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003320 MONDO:0019004 True blastema predominant kidney Wilms tumor kidney Wilms tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003321 MONDO:0019004 True hereditary Wilms tumor kidney Wilms tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003322 MONDO:0019004 True epithelial predominant Wilms' tumor kidney Wilms tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003325 MONDO:0005035 True nodular ganglioneuroblastoma ganglioneuroblastoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003326 MONDO:0005035 True intermixed schwannian stroma-rich ganglioneuroblastoma ganglioneuroblastoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003327 MONDO:0001406 True peripheral ganglioneuroblastoma peripheral nervous system neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003327 MONDO:0005035 True peripheral ganglioneuroblastoma ganglioneuroblastoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003328 MONDO:0000645 True fallopian tube adenomatoid tumor fallopian tube benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0003328 MONDO:0004230 True fallopian tube adenomatoid tumor adenomatoid tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003330 MONDO:0002118 True urinary tract obstruction urinary system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003331 MONDO:0005602 True ovarian monodermal teratoma ovarian teratoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003329 MONDO:0001926 True ureteral obstruction ureteral disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003329 MONDO:0003330 True ureteral obstruction urinary tract obstruction UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003330 MONDO:0002118 True urinary tract obstruction urinary system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003331 MONDO:0005602 True ovarian monodermal teratoma ovarian teratoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0003332 MONDO:0006444 True malignant struma ovarii teratoma with malignant transformation UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003332 MONDO:0006980 True malignant struma ovarii struma ovarii UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003334 MONDO:0001824 True demyelinating polyneuropathy polyneuropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003334 MONDO:0002562 True demyelinating polyneuropathy demyelinating disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003335 MONDO:0001824 True chronic polyneuropathy polyneuropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003336 MONDO:0006009 True acute necrotizing encephalitis viral encephalitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003337 MONDO:0006009 True acute hemorrhagic encephalitis viral encephalitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003340 MONDO:0004992 True malignant glomus tumor cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003340 MONDO:0018327 True malignant glomus tumor glomus tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003334 MONDO:0001824 True demyelinating polyneuropathy polyneuropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003335 MONDO:0001824 True chronic polyneuropathy polyneuropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003340 MONDO:0004992 True malignant glomus tumor cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003340 MONDO:0018327 True malignant glomus tumor glomus tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0003341 MONDO:0002295 True subungual glomus tumor skin glomus tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003342 MONDO:0002604 True benign perivascular tumor pericytic neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003342 MONDO:0005165 True benign perivascular tumor benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003342 MONDO:0005165 True benign perivascular tumor benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0003343 MONDO:0016748 True retinal hemangioblastoma hemangioblastoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003346 MONDO:0018882 True central nervous system vasculitis vasculitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003347 MONDO:0005058 True inflammatory leiomyosarcoma leiomyosarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003348 MONDO:0005058 True conventional leiomyosarcoma leiomyosarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003345 MONDO:0003210 True hilar cholangiocarcinoma intrahepatic cholangiocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003346 MONDO:0002602 True central nervous system vasculitis central nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003346 MONDO:0018882 True central nervous system vasculitis vasculitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003347 MONDO:0005058 True inflammatory leiomyosarcoma leiomyosarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003348 MONDO:0005058 True conventional leiomyosarcoma leiomyosarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0003349 MONDO:0002217 True central nervous system leiomyosarcoma central nervous system sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003349 MONDO:0005058 True central nervous system leiomyosarcoma leiomyosarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003349 MONDO:0005058 True central nervous system leiomyosarcoma leiomyosarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0003349 MONDO:0037740 True central nervous system leiomyosarcoma malignant central nervous system mesenchymal, non-meningothelial neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0003351 MONDO:0003352 True colon leiomyosarcoma colon sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003351 MONDO:0005058 True colon leiomyosarcoma leiomyosarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003352 MONDO:0005089 True colon sarcoma sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003352 MONDO:0021063 True colon sarcoma malignant colon neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003353 MONDO:0003354 True heart leiomyosarcoma heart sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003351 MONDO:0005058 True colon leiomyosarcoma leiomyosarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003352 MONDO:0005089 True colon sarcoma sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003352 MONDO:0021063 True colon sarcoma malignant colon neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003353 MONDO:0003354 True heart leiomyosarcoma heart sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0003353 MONDO:0005058 True heart leiomyosarcoma leiomyosarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003354 MONDO:0001340 True heart sarcoma heart cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003354 MONDO:0001340 True heart sarcoma heart cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0003354 MONDO:0018078 True heart sarcoma soft tissue sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0003355 MONDO:0002225 True ovary leiomyosarcoma ovarian sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003355 MONDO:0005058 True ovary leiomyosarcoma leiomyosarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003356 MONDO:0005058 True epithelioid leiomyosarcoma leiomyosarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003355 MONDO:0005058 True ovary leiomyosarcoma leiomyosarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003356 MONDO:0005058 True epithelioid leiomyosarcoma leiomyosarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0003357 MONDO:0002426 True lung leiomyosarcoma lung sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003357 MONDO:0005058 True lung leiomyosarcoma leiomyosarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003357 MONDO:0005058 True lung leiomyosarcoma leiomyosarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0003358 MONDO:0002865 True anus leiomyosarcoma anus sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003359 MONDO:0005058 True myxoid leiomyosarcoma leiomyosarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003359 MONDO:0005058 True myxoid leiomyosarcoma leiomyosarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0003360 MONDO:0003361 True small intestine leiomyosarcoma small intestinal sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003360 MONDO:0005058 True small intestine leiomyosarcoma leiomyosarcoma UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003361 MONDO:0000956 True small intestinal sarcoma small intestine cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003360 MONDO:0005058 True small intestine leiomyosarcoma leiomyosarcoma UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003360 MONDO:0018506 True small intestine leiomyosarcoma mesenchymal tumor of small intestine UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0003361 MONDO:0000956 True small intestinal sarcoma small intestine cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0003361 MONDO:0018078 True small intestinal sarcoma soft tissue sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0003362 MONDO:0006414 True cutaneous leiomyosarcoma skin sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0003363 MONDO:0002300 True malignant dermis tumor dermis tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003363 MONDO:0002898 True malignant dermis tumor skin cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003363 MONDO:0002898 True malignant dermis tumor skin cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0003364 MONDO:0002857 True gallbladder leiomyosarcoma gallbladder sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003364 MONDO:0005058 True gallbladder leiomyosarcoma leiomyosarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003365 MONDO:0001204 True esophagus leiomyosarcoma esophagus sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003364 MONDO:0005058 True gallbladder leiomyosarcoma leiomyosarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003365 MONDO:0001204 True esophagus leiomyosarcoma esophagus sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0003365 MONDO:0005058 True esophagus leiomyosarcoma leiomyosarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003367 MONDO:0001056 True gastric leiomyosarcoma gastric cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003366 MONDO:0006816 True hydrarthrosis arthropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003367 MONDO:0001056 True gastric leiomyosarcoma gastric cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0003367 MONDO:0005058 True gastric leiomyosarcoma leiomyosarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003368 MONDO:0002854 True prostate leiomyosarcoma prostate sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003368 MONDO:0002854 True prostate leiomyosarcoma prostate sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0003368 MONDO:0005058 True prostate leiomyosarcoma leiomyosarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003369 MONDO:0002140 True vagina leiomyosarcoma vagina sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003369 MONDO:0002140 True vagina leiomyosarcoma vagina sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0003369 MONDO:0005058 True vagina leiomyosarcoma leiomyosarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003370 MONDO:0001501 True retroperitoneal leiomyosarcoma retroperitoneal sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003370 MONDO:0001501 True retroperitoneal leiomyosarcoma retroperitoneal sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0003370 MONDO:0005058 True retroperitoneal leiomyosarcoma leiomyosarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003371 MONDO:0002490 True breast leiomyosarcoma breast sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003371 MONDO:0002490 True breast leiomyosarcoma breast sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0003371 MONDO:0005058 True breast leiomyosarcoma leiomyosarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003372 MONDO:0005058 True vulvar leiomyosarcoma leiomyosarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003372 MONDO:0005214 True vulvar leiomyosarcoma vulva sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003373 MONDO:0002930 True kidney leiomyosarcoma kidney sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003372 MONDO:0005214 True vulvar leiomyosarcoma vulva sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003373 MONDO:0002930 True kidney leiomyosarcoma kidney sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0003373 MONDO:0005058 True kidney leiomyosarcoma leiomyosarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003374 MONDO:0002448 True laryngeal leiomyosarcoma laryngeal sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003374 MONDO:0005058 True laryngeal leiomyosarcoma leiomyosarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003374 MONDO:0005058 True laryngeal leiomyosarcoma leiomyosarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0003376 MONDO:0002852 True mediastinum leiomyosarcoma mediastinum sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003376 MONDO:0005058 True mediastinum leiomyosarcoma leiomyosarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003376 MONDO:0005058 True mediastinum leiomyosarcoma leiomyosarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003377 MONDO:0003090 True extrahepatic bile duct leiomyosarcoma extrahepatic bile duct carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0003377 MONDO:0024658 True extrahepatic bile duct leiomyosarcoma extrahepatic bile duct sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003378 MONDO:0002397 True liver leiomyosarcoma liver sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003378 MONDO:0002397 True liver leiomyosarcoma liver sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0003378 MONDO:0005058 True liver leiomyosarcoma leiomyosarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003379 MONDO:0002168 True rectum leiomyosarcoma rectum sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003379 MONDO:0002168 True rectum leiomyosarcoma rectum sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0003379 MONDO:0005058 True rectum leiomyosarcoma leiomyosarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003382 MONDO:0005328 True eyelid disorder eye disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003383 MONDO:0002746 True fallopian tube clear cell adenocarcinoma fallopian tube adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003381 MONDO:0005151 True pituitary gland disorder endocrine system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003383 MONDO:0002746 True fallopian tube clear cell adenocarcinoma fallopian tube adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0003383 MONDO:0005004 True fallopian tube clear cell adenocarcinoma clear cell adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003384 MONDO:0002741 True uterine ligament clear cell adenocarcinoma uterine ligament adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003386 MONDO:0002751 True bladder clear cell adenocarcinoma bladder adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003384 MONDO:0002741 True uterine ligament clear cell adenocarcinoma uterine ligament adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003386 MONDO:0002751 True bladder clear cell adenocarcinoma bladder adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0003386 MONDO:0005004 True bladder clear cell adenocarcinoma clear cell adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003387 MONDO:0003200 True urethra clear cell adenocarcinoma urethra adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003387 MONDO:0003200 True urethra clear cell adenocarcinoma urethra adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0003387 MONDO:0005004 True urethra clear cell adenocarcinoma clear cell adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003388 MONDO:0002670 True ampulla of vater clear cell adenocarcinoma ampulla of vater adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003388 MONDO:0002670 True ampulla of vater clear cell adenocarcinoma ampulla of vater adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0003389 MONDO:0004993 True epithelial-myoepithelial carcinoma carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003390 MONDO:0004953 True glycogen-rich clear cell breast carcinoma invasive ductal breast carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003390 MONDO:0005004 True glycogen-rich clear cell breast carcinoma clear cell adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003390 MONDO:0045055 True glycogen-rich clear cell breast carcinoma glycogen-rich carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003391 MONDO:0005214 True vulvar alveolar soft part sarcoma vulva sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003390 MONDO:0045055 True glycogen-rich clear cell breast carcinoma glycogen-rich carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003391 MONDO:0005214 True vulvar alveolar soft part sarcoma vulva sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0003391 MONDO:0011655 True vulvar alveolar soft part sarcoma alveolar soft part sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003392 MONDO:0005040 True fallopian tube germ cell tumor germ cell tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003392 MONDO:0005040 True fallopian tube germ cell tumor germ cell tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0003392 MONDO:0021092 True fallopian tube germ cell tumor fallopian tube neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003394 MONDO:0006999 True dental pulp disorder tooth disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003393 MONDO:0005046 True thymus gland disorder immune system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003394 MONDO:0006999 True dental pulp disorder tooth disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0003395 MONDO:0003125 True testicular granulosa cell tumor testicular sex cord-stromal neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003395 MONDO:0006036 True testicular granulosa cell tumor granulosa cell tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003396 MONDO:0005079 True epulis polyp UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003399 MONDO:0002073 True pineal region yolk sac tumor malignant pineal area germ cell neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003395 MONDO:0006036 True testicular granulosa cell tumor granulosa cell tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003396 MONDO:0002507 True epulis gingival overgrowth UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003397 MONDO:0002507 True gingival hypertrophy gingival overgrowth UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003398 MONDO:0001152 True anterograde amnesia amnestic disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003399 MONDO:0002073 True pineal region yolk sac tumor malignant pineal area germ cell neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0003400 MONDO:0004479 True childhood endodermal sinus tumor malignant childhood germ cell neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003400 MONDO:0005744 True childhood endodermal sinus tumor yolk sac tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003401 MONDO:0002714 True central nervous system endodermal sinus tumor central nervous system cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003400 MONDO:0005744 True childhood endodermal sinus tumor yolk sac tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003401 MONDO:0002714 True central nervous system endodermal sinus tumor central nervous system cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0003401 MONDO:0003400 True central nervous system endodermal sinus tumor childhood endodermal sinus tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003401 MONDO:0003750 True central nervous system endodermal sinus tumor childhood central nervous system germ cell tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003401 MONDO:0016739 True central nervous system endodermal sinus tumor yolk sac tumor of central nervous system UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0003401 MONDO:0020574 True central nervous system endodermal sinus tumor central nervous system nongerminomatous germ cell tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0003402 MONDO:0002874 True testicular yolk sac tumor testicular pure germ cell tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003402 MONDO:0003403 True testicular yolk sac tumor testicular non-seminomatous germ cell cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003402 MONDO:0003403 True testicular yolk sac tumor testicular non-seminomatous germ cell cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0003402 MONDO:0005744 True testicular yolk sac tumor yolk sac tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003403 MONDO:0003510 True testicular non-seminomatous germ cell cancer malignant testicular germ cell tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003403 MONDO:0003510 True testicular non-seminomatous germ cell cancer malignant testicular germ cell tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0003403 MONDO:0006447 True testicular non-seminomatous germ cell cancer testicular non-seminomatous germ cell tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003404 MONDO:0005744 True adult yolk sac tumor yolk sac tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003404 MONDO:0005744 True adult yolk sac tumor yolk sac tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0003404 MONDO:0044878 True adult yolk sac tumor adult germ cell tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003405 MONDO:0003000 True adult central nervous system germ cell tumor central nervous system germ cell tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003405 MONDO:0003000 True adult central nervous system germ cell tumor central nervous system germ cell tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0003405 MONDO:0044878 True adult central nervous system germ cell tumor adult germ cell tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003408 MONDO:0018171 True ovarian primitive germ cell tumor malignant germ cell tumor of ovary UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003410 MONDO:0005153 True Wolffian duct adenocarcinoma cervical adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003408 MONDO:0018171 True ovarian primitive germ cell tumor malignant germ cell tumor of ovary UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003410 MONDO:0005153 True Wolffian duct adenocarcinoma cervical adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0003410 MONDO:0005613 True Wolffian duct adenocarcinoma mesonephric adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0003411 MONDO:0005094 True breast hemangiopericytoma hemangiopericytoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003412 MONDO:0005094 True retroperitoneal hemangiopericytoma hemangiopericytoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003412 MONDO:0005094 True retroperitoneal hemangiopericytoma hemangiopericytoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0003413 MONDO:0002297 True hair follicle neoplasm epidermal appendage tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003413 MONDO:0002917 True hair follicle neoplasm disorder of pilosebaceous unit UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003414 MONDO:0006973 True skin pilomatrix carcinoma skin appendage carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0003417 MONDO:0003425 True internuclear ophthalmoplegia ophthalmoplegia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003417 MONDO:0003432 True internuclear ophthalmoplegia strabismus UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003419 MONDO:0002193 True Bartholin gland adenoma Bartholin gland benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0003419 MONDO:0002198 True Bartholin gland adenoma vulvar glandular neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003419 MONDO:0004972 True Bartholin gland adenoma adenoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003419 MONDO:0004972 True Bartholin gland adenoma adenoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0003419 MONDO:0036976 True Bartholin gland adenoma benign epithelial neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003421 MONDO:0004972 True mixed cell adenoma adenoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003421 MONDO:0004972 True mixed cell adenoma adenoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0003421 MONDO:0021043 True mixed cell adenoma mixed neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003422 MONDO:0002732 True lung adenoma lung benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003422 MONDO:0004972 True lung adenoma adenoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003422 MONDO:0002732 True lung adenoma lung benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003422 MONDO:0004972 True lung adenoma adenoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0003422 MONDO:0036976 True lung adenoma benign epithelial neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0003423 MONDO:0004972 True middle ear adenoma adenoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003423 MONDO:0021482 True middle ear adenoma benign neoplasm of middle ear UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0003423 MONDO:0036976 True middle ear adenoma benign epithelial neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0003424 MONDO:0004972 True oncocytic adenoma adenoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003424 MONDO:0010795 True oncocytic adenoma oncocytic neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003426 MONDO:0004972 True clear cell adenoma adenoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003425 MONDO:0001584 True ophthalmoplegia ocular motility disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003426 MONDO:0004972 True clear cell adenoma adenoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0003427 MONDO:0002533 True bronchus adenoma papillary adenoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003427 MONDO:0002807 True bronchus adenoma bronchial neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0003427 MONDO:0003422 True bronchus adenoma lung adenoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003428 MONDO:0002328 True brain hemangioma intracranial hemangioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003429 MONDO:0006373 True functioning pituitary gland adenoma pituitary gland adenoma UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003431 MONDO:0004972 True lipoadenoma adenoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003433 MONDO:0004972 True water-clear cell adenoma adenoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003429 MONDO:0006373 True functioning pituitary gland adenoma pituitary gland adenoma UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003431 MONDO:0004972 True lipoadenoma adenoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003432 MONDO:0001584 True strabismus ocular motility disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003433 MONDO:0004972 True water-clear cell adenoma adenoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0003434 MONDO:0001704 True vaginal adenoma vaginal glandular neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003434 MONDO:0004972 True vaginal adenoma adenoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003434 MONDO:0004972 True vaginal adenoma adenoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0003435 MONDO:0004972 True microcystic adenoma adenoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003437 MONDO:0008433 True occult small cell lung carcinoma small cell lung carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003437 MONDO:0008433 True occult small cell lung carcinoma small cell lung carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0003438 MONDO:0006167 True combined small cell lung carcinoma combined lung carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003438 MONDO:0008433 True combined small cell lung carcinoma small cell lung carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003438 MONDO:0008433 True combined small cell lung carcinoma small cell lung carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0003439 MONDO:0004987 True urinary bladder villous adenoma urinary bladder neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003441 MONDO:0005395 True dystonic disorder movement disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003442 MONDO:0003443 True bladder papillary urothelial neoplasm papillary urothelial neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003441 MONDO:0005395 True dystonic disorder movement disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003442 MONDO:0003443 True bladder papillary urothelial neoplasm papillary urothelial neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0003442 MONDO:0004987 True bladder papillary urothelial neoplasm urinary bladder neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0003443 MONDO:0021096 True papillary urothelial neoplasm papillary epithelial neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0003443 MONDO:0024337 True papillary urothelial neoplasm urothelial neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003444 MONDO:0006108 True intrahepatic bile duct adenoma bile duct adenoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003445 MONDO:0006108 True extrahepatic bile duct adenoma bile duct adenoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003444 MONDO:0006108 True intrahepatic bile duct adenoma bile duct adenoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003445 MONDO:0006108 True extrahepatic bile duct adenoma bile duct adenoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0003445 MONDO:0021385 True extrahepatic bile duct adenoma extrahepatic bile duct neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003447 MONDO:0002805 True clear cell hidradenoma hidradenoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003446 MONDO:0002805 True papillary hidradenoma hidradenoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003447 MONDO:0002805 True clear cell hidradenoma hidradenoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0003447 MONDO:0003426 True clear cell hidradenoma clear cell adenoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003448 MONDO:0021489 True benign spiradenoma benign neoplasm of sweat gland UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0003450 MONDO:0002090 True eccrine papillary adenoma eccrine sweat gland neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003452 MONDO:0002467 True cochlear disorder inner ear disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0003453 MONDO:0020204 True conjunctival intraepithelial neoplasm conjunctival tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0003453 MONDO:0024475 True conjunctival intraepithelial neoplasm squamous cell intraepithelial neoplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003454 MONDO:0002236 True conjunctival cancer ocular cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003454 MONDO:0002236 True conjunctival cancer ocular cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0003454 MONDO:0020204 True conjunctival cancer conjunctival tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0003455 MONDO:0000385 True bile duct papillary neoplasm benign digestive system neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0003455 MONDO:0021662 True bile duct papillary neoplasm bile duct neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003458 MONDO:0006071 True uterine corpus adenofibroma adenofibroma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003458 MONDO:0006071 True uterine corpus adenofibroma adenofibroma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0003458 MONDO:0021525 True uterine corpus adenofibroma benign neoplasm of corpus uteri UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003459 MONDO:0000644 True cervical adenofibroma cervical benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003460 MONDO:0006071 True clear cell adenofibroma adenofibroma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003461 MONDO:0000645 True fallopian tube serous adenofibroma fallopian tube benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003459 MONDO:0000644 True cervical adenofibroma cervical benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003460 MONDO:0006071 True clear cell adenofibroma adenofibroma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003461 MONDO:0000645 True fallopian tube serous adenofibroma fallopian tube benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0003461 MONDO:0024886 True fallopian tube serous adenofibroma serous adenofibroma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003462 MONDO:0006071 True papillary adenofibroma adenofibroma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003463 MONDO:0000646 True ovarian endometrioid adenofibroma ovarian benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003464 MONDO:0006071 True cystadenofibroma adenofibroma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003462 MONDO:0006071 True papillary adenofibroma adenofibroma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003463 MONDO:0000646 True ovarian endometrioid adenofibroma ovarian benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003464 MONDO:0006071 True cystadenofibroma adenofibroma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003465 MONDO:0010434 True fibrous synovial sarcoma synovial sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0003466 MONDO:0005067 True spindle cell synovial sarcoma monophasic synovial sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003467 MONDO:0002852 True mediastinum synovial sarcoma mediastinum sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003467 MONDO:0010434 True mediastinum synovial sarcoma synovial sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003468 MONDO:0010434 True biphasic synovial sarcoma synovial sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003467 MONDO:0010434 True mediastinum synovial sarcoma synovial sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003468 MONDO:0010434 True biphasic synovial sarcoma synovial sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0003469 MONDO:0005067 True epithelioid cell synovial sarcoma monophasic synovial sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003470 MONDO:0016698 True cellular ependymoma ependymoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003472 MONDO:0002875 True lice infestation parasitic ectoparasitic infectious disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003470 MONDO:0016698 True cellular ependymoma ependymoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003471 MONDO:0003472 True Pediculus humanus capitis infestation lice infestation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003472 MONDO:0002875 True lice infestation parasitic ectoparasitic infectious disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0003473 MONDO:0016698 True spinal cord ependymoma ependymoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003474 MONDO:0016698 True tanycytic ependymoma ependymoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003475 MONDO:0016698 True papillary ependymoma ependymoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003476 MONDO:0016698 True clear cell ependymoma ependymoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003474 MONDO:0016698 True tanycytic ependymoma ependymoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003475 MONDO:0016698 True papillary ependymoma ependymoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003476 MONDO:0016698 True clear cell ependymoma ependymoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0003477 MONDO:0002911 True brain stem ependymoma brain stem glioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003477 MONDO:0016698 True brain stem ependymoma ependymoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003478 MONDO:0016698 True childhood ependymoma ependymoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003478 MONDO:0021079 True childhood ependymoma childhood neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0003480 MONDO:0002073 True pineal region dysgerminoma malignant pineal area germ cell neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003481 MONDO:0003002 True dysgerminoma of ovary dysgerminoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0003481 MONDO:0003408 True dysgerminoma of ovary ovarian primitive germ cell tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003486 MONDO:0005096 True basaloid squamous cell carcinoma squamous cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003482 MONDO:0003472 True Pediculus humanus corporis infestation lice infestation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003486 MONDO:0005096 True basaloid squamous cell carcinoma squamous cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0003486 MONDO:0006102 True basaloid squamous cell carcinoma basaloid carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003487 MONDO:0005096 True pseudoglandular squamous cell carcinoma squamous cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003490 MONDO:0017590 True ampulla of vater squamous cell carcinoma carcinoma of the ampulla of vater UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003493 MONDO:0005096 True thymus squamous cell carcinoma squamous cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003493 MONDO:0006451 True thymus squamous cell carcinoma thymic carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003494 MONDO:0005096 True ovarian squamous cell carcinoma squamous cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003487 MONDO:0005096 True pseudoglandular squamous cell carcinoma squamous cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003490 MONDO:0017590 True ampulla of vater squamous cell carcinoma carcinoma of the ampulla of vater UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003492 MONDO:0002463 True lacrimal gland squamous cell carcinoma lacrimal gland carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003493 MONDO:0005096 True thymus squamous cell carcinoma squamous cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003493 MONDO:0006451 True thymus squamous cell carcinoma thymic carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003494 MONDO:0005096 True ovarian squamous cell carcinoma squamous cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0003494 MONDO:0005140 True ovarian squamous cell carcinoma ovarian carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003497 MONDO:0005096 True renal pelvis squamous cell carcinoma squamous cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003497 MONDO:0005519 True renal pelvis squamous cell carcinoma renal pelvis carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003499 MONDO:0002529 True sarcomatoid squamous cell skin carcinoma skin squamous cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003501 MONDO:0002944 True external ear squamous cell carcinoma external ear carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003497 MONDO:0005096 True renal pelvis squamous cell carcinoma squamous cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003497 MONDO:0005519 True renal pelvis squamous cell carcinoma renal pelvis carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003499 MONDO:0002529 True sarcomatoid squamous cell skin carcinoma skin squamous cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003500 MONDO:0005496 True squamous cell bile duct carcinoma bile duct carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003501 MONDO:0002944 True external ear squamous cell carcinoma external ear carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0003501 MONDO:0010150 True external ear squamous cell carcinoma head and neck squamous cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003502 MONDO:0005096 True ureter squamous cell carcinoma squamous cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003502 MONDO:0006481 True ureter squamous cell carcinoma ureter carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003503 MONDO:0005096 True fallopian tube squamous cell carcinoma squamous cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003503 MONDO:0006206 True fallopian tube squamous cell carcinoma fallopian tube carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003506 MONDO:0005207 True pulmonary artery choriocarcinoma choriocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003502 MONDO:0005096 True ureter squamous cell carcinoma squamous cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003502 MONDO:0006481 True ureter squamous cell carcinoma ureter carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003503 MONDO:0005096 True fallopian tube squamous cell carcinoma squamous cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003503 MONDO:0006206 True fallopian tube squamous cell carcinoma fallopian tube carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003506 MONDO:0000473 True pulmonary artery choriocarcinoma arterial disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003506 MONDO:0005207 True pulmonary artery choriocarcinoma choriocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0003506 MONDO:0006290 True pulmonary artery choriocarcinoma malignant germ cell tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0003506 MONDO:0040676 True pulmonary artery choriocarcinoma great vessel cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003507 MONDO:0005207 True choriocarcinoma of ovary choriocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003507 MONDO:0005207 True choriocarcinoma of ovary choriocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003507 MONDO:0018171 True choriocarcinoma of ovary malignant germ cell tumor of ovary UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0003508 MONDO:0002871 True choriocarcinoma of testis testicular trophoblastic tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003508 MONDO:0003403 True choriocarcinoma of testis testicular non-seminomatous germ cell cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003508 MONDO:0005207 True choriocarcinoma of testis choriocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003509 MONDO:0002073 True pineal region choriocarcinoma malignant pineal area germ cell neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003508 MONDO:0005207 True choriocarcinoma of testis choriocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003509 MONDO:0002073 True pineal region choriocarcinoma malignant pineal area germ cell neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0003509 MONDO:0016740 True pineal region choriocarcinoma choriocarcinoma of the central nervous system UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003510 MONDO:0005447 True malignant testicular germ cell tumor testicular cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003510 MONDO:0005447 True malignant testicular germ cell tumor testicular cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0003510 MONDO:0006290 True malignant testicular germ cell tumor malignant germ cell tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003510 MONDO:0010108 True malignant testicular germ cell tumor testicular germ cell tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003510 MONDO:0010108 True malignant testicular germ cell tumor testicular germ cell tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0003512 MONDO:0006424 True mediastinal mesenchymal tumor soft tissue neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0003512 MONDO:0021386 True mediastinal mesenchymal tumor neoplasm of mediastinum UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0003513 MONDO:0002601 True gastric teratoma teratoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003513 MONDO:0021085 True gastric teratoma gastric neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003514 MONDO:0002601 True malignant teratoma teratoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003514 MONDO:0002601 True malignant teratoma teratoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0003514 MONDO:0006290 True malignant teratoma malignant germ cell tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0003515 MONDO:0002601 True fallopian tube teratoma teratoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003515 MONDO:0003392 True fallopian tube teratoma fallopian tube germ cell tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003516 MONDO:0002601 True adult teratoma teratoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003516 MONDO:0044878 True adult teratoma adult germ cell tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003517 MONDO:0002601 True mature teratoma teratoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003517 MONDO:0002601 True mature teratoma teratoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0003518 MONDO:0002601 True mediastinum teratoma teratoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003518 MONDO:0021067 True mediastinum teratoma mediastinal germ cell tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003519 MONDO:0002206 True malignant syringoma sweat gland cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003519 MONDO:0002206 True malignant syringoma sweat gland cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0003522 MONDO:0040674 True male orgasm disorder orgasm disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0003523 MONDO:0000386 True gastrin-producing neuroendocrine tumor digestive system neuroendocrine tumor, grade 1/2 UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003524 MONDO:0003523 True gastric gastrin-producing neuroendocrine tumor gastrin-producing neuroendocrine tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003524 MONDO:0015062 True gastric gastrin-producing neuroendocrine tumor gastric neuroendocrine tumor, well differentiated, low or intermediate grade UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0003525 MONDO:0003523 True pancreatic gastrin-producing neuroendocrine tumor gastrin-producing neuroendocrine tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003525 MONDO:0019954 True pancreatic gastrin-producing neuroendocrine tumor pancreatic neuroendocrine tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003529 MONDO:0006939 True acute pyelonephritis pyelonephritis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003529 MONDO:0006939 True acute pyelonephritis pyelonephritis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0003531 MONDO:0002512 True papillary eccrine carcinoma papillary adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003531 MONDO:0024240 True papillary eccrine carcinoma eccrine carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003531 MONDO:0024240 True papillary eccrine carcinoma eccrine carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0003532 MONDO:0002512 True breast papillary carcinoma papillary adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003534 MONDO:0002512 True papillary thymic adenocarcinoma papillary adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003534 MONDO:0003209 True papillary thymic adenocarcinoma thymus gland adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003534 MONDO:0003209 True papillary thymic adenocarcinoma thymus gland adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003535 MONDO:0002746 True fallopian tube papillary adenocarcinoma fallopian tube adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0003537 MONDO:0003538 True precursor T-lymphoblastic lymphoma/leukemia precursor lymphoblastic lymphoma/leukemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0003537 MONDO:0024615 True precursor T-lymphoblastic lymphoma/leukemia T-cell and NK-cell neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0003538 MONDO:0005157 True precursor lymphoblastic lymphoma/leukemia lymphoid neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003539 MONDO:0003541 True T-cell adult acute lymphocytic leukemia adult acute lymphoblastic leukemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003541 MONDO:0004967 True adult acute lymphoblastic leukemia acute lymphoblastic leukemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003543 MONDO:0003569 True trigeminal nerve disorder cranial nerve neuropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003544 MONDO:0002714 True spinal cord cancer central nervous system cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003539 MONDO:0003540 True T-cell adult acute lymphocytic leukemia acute T cell leukemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003539 MONDO:0003541 True T-cell adult acute lymphocytic leukemia adult acute lymphoblastic leukemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003540 MONDO:0004967 True acute T cell leukemia acute lymphoblastic leukemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003541 MONDO:0004967 True adult acute lymphoblastic leukemia acute lymphoblastic leukemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003542 MONDO:0003394 True dental pulp calcification dental pulp disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003543 MONDO:0003569 True trigeminal nerve disorder cranial nerve neuropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003543 MONDO:0003620 True trigeminal nerve disorder peripheral nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003544 MONDO:0002714 True spinal cord cancer central nervous system cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0003544 MONDO:0021234 True spinal cord cancer spinal cord neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003546 MONDO:0003569 True third cranial nerve disorder cranial nerve neuropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003546 MONDO:0003569 True third cranial nerve disorder cranial nerve neuropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003546 MONDO:0003620 True third cranial nerve disorder peripheral nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0003548 MONDO:0006074 True adenosquamous breast carcinoma adenosquamous carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003550 MONDO:0006074 True esophageal adenosquamous carcinoma adenosquamous carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003551 MONDO:0006074 True thymic adenosquamous carcinoma adenosquamous carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003554 MONDO:0006157 True adenosquamous colon carcinoma colorectal adenosquamous carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0003555 MONDO:0006074 True Bartholin gland adenosquamous carcinoma adenosquamous carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003556 MONDO:0006074 True endometrial adenosquamous carcinoma adenosquamous carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003557 MONDO:0002640 True optic nerve sheath meningioma optic nerve neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003557 MONDO:0002640 True optic nerve sheath meningioma optic nerve neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0003557 MONDO:0016642 True optic nerve sheath meningioma meningioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003558 MONDO:0006074 True adenosquamous prostate carcinoma adenosquamous carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003561 MONDO:0002142 True malignant giant cell tumor of soft parts undifferentiated pleomorphic sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003561 MONDO:0002402 True malignant giant cell tumor of soft parts malignant giant cell tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003563 MONDO:0002771 True diffuse pulmonary fibrosis pulmonary fibrosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003564 MONDO:0002771 True localized pulmonary fibrosis pulmonary fibrosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003561 MONDO:0002402 True malignant giant cell tumor of soft parts malignant giant cell tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003563 MONDO:0002771 True diffuse pulmonary fibrosis pulmonary fibrosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003564 MONDO:0002771 True localized pulmonary fibrosis pulmonary fibrosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0003565 MONDO:0021239 True urethral villous adenoma urethra neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003569 MONDO:0005071 True cranial nerve neuropathy nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003567 MONDO:0002467 True bilateral hypoactive labyrinth inner ear disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003569 MONDO:0005071 True cranial nerve neuropathy nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0003570 MONDO:0004993 True lipid-rich carcinoma carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003572 MONDO:0005232 True nasopharyngeal type undifferentiated carcinoma large cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003573 MONDO:0006406 True pleomorphic carcinoma sarcomatoid carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003574 MONDO:0003277 True external ear cancer malignant ear neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003573 MONDO:0006406 True pleomorphic carcinoma sarcomatoid carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003574 MONDO:0003277 True external ear cancer malignant ear neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003574 MONDO:0004532 True external ear cancer auditory system cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0003574 MONDO:0021235 True external ear cancer external ear neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0003575 MONDO:0004993 True comedocarcinoma carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003578 MONDO:0003113 True extragonadal nonseminomatous germ cell tumor extragonadal germ cell cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003581 MONDO:0005440 True ovarian embryonal carcinoma embryonal carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003579 MONDO:0001834 True retinal nerve fiber layer disorder visual pathway disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003579 MONDO:0005283 True retinal nerve fiber layer disorder retinal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003581 MONDO:0005440 True ovarian embryonal carcinoma embryonal carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0003581 MONDO:0016096 True ovarian embryonal carcinoma malignant non-dysgerminomatous germ cell tumor of ovary UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003582 MONDO:0015356 True hereditary breast ovarian cancer syndrome hereditary neoplastic syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003585 MONDO:0005060 True adult liposarcoma liposarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003582 MONDO:0000426 True hereditary breast ovarian cancer syndrome autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003584 MONDO:0001834 True visual cortex disorder visual pathway disorder UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003585 MONDO:0005060 True adult liposarcoma liposarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0003586 MONDO:0001204 True esophagus liposarcoma esophagus sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003586 MONDO:0005060 True esophagus liposarcoma liposarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003587 MONDO:0005060 True pediatric liposarcoma liposarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003586 MONDO:0005060 True esophagus liposarcoma liposarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003587 MONDO:0005060 True pediatric liposarcoma liposarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0003587 MONDO:0006517 True pediatric liposarcoma childhood malignant neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0003588 MONDO:0002448 True larynx liposarcoma laryngeal sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003588 MONDO:0005060 True larynx liposarcoma liposarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003588 MONDO:0005060 True larynx liposarcoma liposarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0003589 MONDO:0002225 True liposarcoma of the ovary ovarian sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003589 MONDO:0005060 True liposarcoma of the ovary liposarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003589 MONDO:0005060 True liposarcoma of the ovary liposarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003590 MONDO:0005060 True fibroblastic liposarcoma liposarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0003591 MONDO:0002930 True kidney liposarcoma kidney sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003591 MONDO:0005060 True kidney liposarcoma liposarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003592 MONDO:0001056 True gastric liposarcoma gastric cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003591 MONDO:0005060 True kidney liposarcoma liposarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003592 MONDO:0001056 True gastric liposarcoma gastric cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0003592 MONDO:0005060 True gastric liposarcoma liposarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003593 MONDO:0002490 True breast liposarcoma breast sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003593 MONDO:0002490 True breast liposarcoma breast sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0003593 MONDO:0005060 True breast liposarcoma liposarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003594 MONDO:0005060 True mixed liposarcoma liposarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003599 MONDO:0005060 True vulvar liposarcoma liposarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003594 MONDO:0005060 True mixed liposarcoma liposarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003599 MONDO:0005060 True vulvar liposarcoma liposarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0003599 MONDO:0005214 True vulvar liposarcoma vulva sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003600 MONDO:0005060 True cutaneous liposarcoma liposarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003600 MONDO:0006414 True cutaneous liposarcoma skin sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003600 MONDO:0006414 True cutaneous liposarcoma skin sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0003601 MONDO:0002852 True mediastinum liposarcoma mediastinum sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003601 MONDO:0005060 True mediastinum liposarcoma liposarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003602 MONDO:0005060 True intracranial liposarcoma liposarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003606 MONDO:0002817 True adrenal medulla cancer adrenal gland cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003601 MONDO:0005060 True mediastinum liposarcoma liposarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003602 MONDO:0005060 True intracranial liposarcoma liposarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003606 MONDO:0002817 True adrenal medulla cancer adrenal gland cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0003606 MONDO:0021237 True adrenal medulla cancer adrenal medulla neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0003608 MONDO:0002135 True optic atrophy optic nerve disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0003609 MONDO:0002369 True seminal vesicle cystadenoma cystadenoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003609 MONDO:0002790 True seminal vesicle cystadenoma seminal vesicle tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003609 MONDO:0002790 True seminal vesicle cystadenoma seminal vesicle tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003610 MONDO:0004005 True rete ovarii cystadenoma rete ovarii adenoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0003611 MONDO:0021091 True uterine ligament papillary cystadenoma associated with von Hippel-Lindau disease papillary cystadenoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0003611 MONDO:0021629 True uterine ligament papillary cystadenoma associated with von Hippel-Lindau disease uterine ligament neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0003612 MONDO:0021629 True uterine ligament cancer uterine ligament neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0003614 MONDO:0003295 True intravenous leiomyomatosis leiomyomatosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003615 MONDO:0005244 True nerve compression syndrome peripheral neuropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003617 MONDO:0003619 True chronic salpingitis salpingitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003619 MONDO:0000922 True salpingitis pelvic inflammatory disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003619 MONDO:0002156 True salpingitis fallopian tube disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003620 MONDO:0005071 True peripheral nervous system disorder nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003616 MONDO:0003617 True salpingitis isthmica nodosa chronic salpingitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003617 MONDO:0003619 True chronic salpingitis salpingitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003618 MONDO:0003619 True pyosalpinx salpingitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003619 MONDO:0002156 True salpingitis fallopian tube disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003620 MONDO:0005071 True peripheral nervous system disorder nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0003621 MONDO:0002995 True small intestinal vasoactive intestinal peptide producing tumor small intestine neuroendocrine tumor, well differentiated, low or intermediate grade UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0003621 MONDO:0019960 True small intestinal vasoactive intestinal peptide producing tumor VIPoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003622 MONDO:0019960 True pancreatic vasoactive intestinal peptide producing tumor VIPoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003624 MONDO:0004965 True acinic cell breast carcinoma acinar cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003628 MONDO:0002869 True pulmonary valve disorder heart valve disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003626 MONDO:0002741 True uterine ligament serous adenocarcinoma uterine ligament adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003627 MONDO:0000603 True rheumatic pulmonary valve disease autoimmune disorder of cardiovascular system UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003627 MONDO:0003628 True rheumatic pulmonary valve disease pulmonary valve disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003628 MONDO:0002869 True pulmonary valve disorder heart valve disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003629 MONDO:0006003 True uterine corpus serous adenocarcinoma uterine corpus cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0003630 MONDO:0002810 True pancreatic serous cystadenocarcinoma pancreatic serous cystic neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003630 MONDO:0002867 True pancreatic serous cystadenocarcinoma pancreatic cystadenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003630 MONDO:0002867 True pancreatic serous cystadenocarcinoma pancreatic cystadenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0003630 MONDO:0024621 True pancreatic serous cystadenocarcinoma serous cystadenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003631 MONDO:0005153 True cervical serous adenocarcinoma cervical adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003631 MONDO:0005153 True cervical serous adenocarcinoma cervical adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0003631 MONDO:0005278 True cervical serous adenocarcinoma serous adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003632 MONDO:0002345 True endocervicitis cervicitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003633 MONDO:0006854 True malignant mesenchymoma mesenchymoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003632 MONDO:0002345 True endocervicitis cervicitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003633 MONDO:0004992 True malignant mesenchymoma cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003633 MONDO:0006854 True malignant mesenchymoma mesenchymoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003634 MONDO:0005240 True proteinuria kidney disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0003635 MONDO:0004988 True sebaceous breast carcinoma breast adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003635 MONDO:0006256 True sebaceous breast carcinoma invasive breast carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0003635 MONDO:0006962 True sebaceous breast carcinoma sebaceous adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003636 MONDO:0006962 True vulvar sebaceous carcinoma sebaceous adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003636 MONDO:0024336 True vulvar sebaceous carcinoma vulvar adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003637 MONDO:0002732 True clear cell-sugar-tumor of the lung lung benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003637 MONDO:0002732 True clear cell-sugar-tumor of the lung lung benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0003637 MONDO:0020581 True clear cell-sugar-tumor of the lung benign PEComa UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0003637 MONDO:0020588 True clear cell-sugar-tumor of the lung lung PEComa UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003638 MONDO:0016642 True lung meningioma meningioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003638 MONDO:0008903 True lung meningioma lung cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003638 MONDO:0016642 True lung meningioma meningioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0003639 MONDO:0021117 True lung hilum neoplasm lung neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003640 MONDO:0005236 True verruciform xanthoma of skin xanthoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0003641 MONDO:0006130 True central nervous system hematopoietic neoplasm central nervous system neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0003641 MONDO:0044881 True central nervous system hematopoietic neoplasm hematopoietic and lymphoid cell neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003643 MONDO:0003155 True giant hemangioma cavernous hemangioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003643 MONDO:0003155 True giant hemangioma cavernous hemangioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0003644 MONDO:0002278 True cavernous hemangioma of colon benign colon neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003644 MONDO:0003155 True cavernous hemangioma of colon cavernous hemangioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003645 MONDO:0003155 True cavernous hemangioma of face cavernous hemangioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003644 MONDO:0003155 True cavernous hemangioma of colon cavernous hemangioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003645 MONDO:0003155 True cavernous hemangioma of face cavernous hemangioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0003646 MONDO:0002883 True rectum neuroendocrine neoplasm intestinal neuroendocrine neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003647 MONDO:0003648 True atrophic flaccid tympanic membrane tympanic membrane disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003648 MONDO:0003276 True tympanic membrane disorder middle ear disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0003649 MONDO:0000386 True esophageal neuroendocrine tumor digestive system neuroendocrine tumor, grade 1/2 UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003649 MONDO:0021355 True esophageal neuroendocrine tumor neoplasm of esophagus UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003650 MONDO:0018666 True mixed hepatoblastoma hepatoblastoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003651 MONDO:0018666 True macrotrabecular hepatoblastoma hepatoblastoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003652 MONDO:0008171 True acute urate nephropathy nephrolithiasis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003650 MONDO:0018666 True mixed hepatoblastoma hepatoblastoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003651 MONDO:0018666 True macrotrabecular hepatoblastoma hepatoblastoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003652 MONDO:0008171 True acute urate nephropathy nephrolithiasis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0003654 MONDO:0002623 True childhood parosteal osteosarcoma pediatric osteosarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003654 MONDO:0006817 True childhood parosteal osteosarcoma juxtacortical osteosarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003654 MONDO:0006817 True childhood parosteal osteosarcoma juxtacortical osteosarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0003655 MONDO:0002571 True cerebral lymphoma primary central nervous system lymphoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003655 MONDO:0002731 True cerebral lymphoma cerebral hemisphere cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003658 MONDO:0005062 True B-cell lymphoma, unclassifiable, with features intermediate between diffuse large b-cell lymphoma and classical Hodgkin lymphoma lymphoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003659 MONDO:0005062 True pediatric lymphoma lymphoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003655 MONDO:0002731 True cerebral lymphoma cerebral hemisphere cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003656 MONDO:0003634 True hemoglobinuria proteinuria UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003658 MONDO:0005062 True B-cell lymphoma, unclassifiable, with features intermediate between diffuse large b-cell lymphoma and classical Hodgkin lymphoma lymphoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003659 MONDO:0005062 True pediatric lymphoma lymphoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0003659 MONDO:0006517 True pediatric lymphoma childhood malignant neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003660 MONDO:0005062 True adult lymphoma lymphoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003661 MONDO:0005062 True breast lymphoma lymphoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003661 MONDO:0007254 True breast lymphoma breast cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003663 MONDO:0002741 True uterine ligament endometrioid adenocarcinoma uterine ligament adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003664 MONDO:0004139 True hemolytic anemia normocytic anemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003660 MONDO:0005062 True adult lymphoma lymphoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003661 MONDO:0005062 True breast lymphoma lymphoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003661 MONDO:0007254 True breast lymphoma breast cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003663 MONDO:0002741 True uterine ligament endometrioid adenocarcinoma uterine ligament adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003664 MONDO:0004139 True hemolytic anemia normocytic anemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0003665 MONDO:0005026 True cervical endometrioid adenocarcinoma endometrioid adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003665 MONDO:0005153 True cervical endometrioid adenocarcinoma cervical adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003666 MONDO:0002746 True fallopian tube endometrioid adenocarcinoma fallopian tube adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003665 MONDO:0005153 True cervical endometrioid adenocarcinoma cervical adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003666 MONDO:0002746 True fallopian tube endometrioid adenocarcinoma fallopian tube adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0003666 MONDO:0005026 True fallopian tube endometrioid adenocarcinoma endometrioid adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003668 MONDO:0003001 True extragonadal seminoma seminoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003668 MONDO:0003001 True extragonadal seminoma seminoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0003668 MONDO:0003113 True extragonadal seminoma extragonadal germ cell cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003669 MONDO:0002874 True testicular seminoma testicular pure germ cell tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003669 MONDO:0003001 True testicular seminoma seminoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003669 MONDO:0003510 True testicular seminoma malignant testicular germ cell tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003678 MONDO:0005068 True silent myocardial infarction myocardial infarction UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003680 MONDO:0021054 True periosteal chondrosarcoma bone sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003682 MONDO:0008977 True localized chondrosarcoma chondrosarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003684 MONDO:0021054 True clear cell chondrosarcoma bone sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003670 MONDO:0005068 True posteroinferior myocardial infarction myocardial infarction UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003671 MONDO:0005068 True septal myocardial infarction myocardial infarction UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003672 MONDO:0005068 True posterior myocardial infarction myocardial infarction UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003673 MONDO:0005068 True apical myocardial infarction myocardial infarction UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003674 MONDO:0005068 True subendocardial myocardial infarction myocardial infarction UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003675 MONDO:0005068 True posterolateral myocardial infarction myocardial infarction UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003676 MONDO:0005068 True inferolateral myocardial infarct myocardial infarction UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003677 MONDO:0005068 True lateral myocardial infarction myocardial infarction UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003678 MONDO:0005068 True silent myocardial infarction myocardial infarction UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003679 MONDO:0005068 True anteroseptal myocardial infarction myocardial infarction UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003680 MONDO:0021054 True periosteal chondrosarcoma bone sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003681 MONDO:0008977 True myxoid chondrosarcoma chondrosarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003682 MONDO:0008977 True localized chondrosarcoma chondrosarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003684 MONDO:0021054 True clear cell chondrosarcoma bone sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0003685 MONDO:0005040 True retroperitoneal germ cell neoplasm germ cell tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003685 MONDO:0024645 True retroperitoneal germ cell neoplasm retroperitoneal neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003686 MONDO:0002381 True apocrine sweat gland neoplasm sweat gland neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003687 MONDO:0001340 True endocardium cancer heart cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003686 MONDO:0002381 True apocrine sweat gland neoplasm sweat gland neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003687 MONDO:0001340 True endocardium cancer heart cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0003687 MONDO:0021378 True endocardium cancer neoplasm of endocardium UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003688 MONDO:0005065 True well differentiated papillary mesothelioma mesothelioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003689 MONDO:0003664 True familial hemolytic anemia hemolytic anemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003690 MONDO:0016700 True adult anaplastic ependymoma anaplastic ependymoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003691 MONDO:0003633 True childhood malignant mesenchymoma malignant mesenchymoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003692 MONDO:0003633 True adult malignant mesenchymoma malignant mesenchymoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003689 MONDO:0003664 True familial hemolytic anemia hemolytic anemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003690 MONDO:0016700 True adult anaplastic ependymoma anaplastic ependymoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003691 MONDO:0003633 True childhood malignant mesenchymoma malignant mesenchymoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003692 MONDO:0003633 True adult malignant mesenchymoma malignant mesenchymoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0003693 MONDO:0003460 True clear cell cystadenofibroma clear cell adenofibroma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003693 MONDO:0003464 True clear cell cystadenofibroma cystadenofibroma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003693 MONDO:0003464 True clear cell cystadenofibroma cystadenofibroma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0003694 MONDO:0003693 True ovarian clear cell cystadenofibroma clear cell cystadenofibroma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003694 MONDO:0003695 True ovarian clear cell cystadenofibroma ovarian clear cell adenofibroma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003695 MONDO:0000646 True ovarian clear cell adenofibroma ovarian benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003694 MONDO:0003695 True ovarian clear cell cystadenofibroma ovarian clear cell adenofibroma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003695 MONDO:0000646 True ovarian clear cell adenofibroma ovarian benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0003695 MONDO:0003460 True ovarian clear cell adenofibroma clear cell adenofibroma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003697 MONDO:0003698 True non-invasive verrucous carcinoma of the penis penis verrucous carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0003698 MONDO:0004433 True penis verrucous carcinoma papillary carcinoma of the penis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003698 MONDO:0006006 True penis verrucous carcinoma verrucous carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003699 MONDO:0005618 True phobic disorder anxiety disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003700 MONDO:0003100 True brachial plexus neoplasm nerve plexus neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003701 MONDO:0005075 True thyroid gland diffuse sclerosing papillary carcinoma thyroid gland papillary carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003702 MONDO:0000632 True uterus intravascular leiomyomatosis uterine benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003699 MONDO:0005618 True phobic disorder anxiety disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003700 MONDO:0003100 True brachial plexus neoplasm nerve plexus neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003701 MONDO:0005075 True thyroid gland diffuse sclerosing papillary carcinoma thyroid gland papillary carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003702 MONDO:0000632 True uterus intravascular leiomyomatosis uterine benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0003702 MONDO:0003614 True uterus intravascular leiomyomatosis intravenous leiomyomatosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003704 MONDO:0003295 True uterine corpus diffuse leiomyomatosis leiomyomatosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003704 MONDO:0007886 True uterine corpus diffuse leiomyomatosis uterine corpus leiomyoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003705 MONDO:0003153 True adult brainstem mixed glioma adult brainstem glioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003705 MONDO:0003153 True adult brainstem mixed glioma adult brainstem glioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0003706 MONDO:0002503 True adult brainstem astrocytoma adult astrocytic tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003706 MONDO:0003153 True adult brainstem astrocytoma adult brainstem glioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003706 MONDO:0003153 True adult brainstem astrocytoma adult brainstem glioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0003706 MONDO:0003173 True adult brainstem astrocytoma brain stem astrocytic neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003707 MONDO:0003090 True distal biliary tract carcinoma extrahepatic bile duct carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003708 MONDO:0000402 True extrahepatic bile duct small cell adenocarcinoma small cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003709 MONDO:0003699 True agoraphobia phobic disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003710 MONDO:0003408 True ovarian mixed germ cell neoplasm ovarian primitive germ cell tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003708 MONDO:0002665 True extrahepatic bile duct small cell adenocarcinoma extrahepatic bile duct adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003709 MONDO:0003699 True agoraphobia phobic disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003710 MONDO:0003408 True ovarian mixed germ cell neoplasm ovarian primitive germ cell tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0003710 MONDO:0015864 True ovarian mixed germ cell neoplasm mixed germ cell tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003712 MONDO:0003143 True angiokeratoma of mibelli angiokeratoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003713 MONDO:0003143 True angiokeratoma circumscriptum angiokeratoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003712 MONDO:0003143 True angiokeratoma of mibelli angiokeratoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0003714 MONDO:0002760 True bladder urachal squamous cell carcinoma bladder squamous cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003714 MONDO:0003715 True bladder urachal squamous cell carcinoma bladder urachal carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003715 MONDO:0004986 True bladder urachal carcinoma urinary bladder carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003714 MONDO:0003715 True bladder urachal squamous cell carcinoma bladder urachal carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003715 MONDO:0004986 True bladder urachal carcinoma urinary bladder carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0003716 MONDO:0003717 True renal pelvis papillary urothelial carcinoma renal pelvis papillary tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003716 MONDO:0005221 True renal pelvis papillary urothelial carcinoma renal pelvis urothelial carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003716 MONDO:0005221 True renal pelvis papillary urothelial carcinoma renal pelvis urothelial carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0003716 MONDO:0006350 True renal pelvis papillary urothelial carcinoma papillary transitional cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003717 MONDO:0003443 True renal pelvis papillary tumor papillary urothelial neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003717 MONDO:0003719 True renal pelvis papillary tumor renal pelvis neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003717 MONDO:0003719 True renal pelvis papillary tumor renal pelvis neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003718 MONDO:0011057 True occlusion precerebral artery cerebrovascular disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0003719 MONDO:0021163 True renal pelvis neoplasm kidney neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003720 MONDO:0002930 True kidney fibrosarcoma kidney sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003720 MONDO:0002930 True kidney fibrosarcoma kidney sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0003720 MONDO:0005164 True kidney fibrosarcoma fibrosarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003721 MONDO:0002621 True kidney osteogenic sarcoma extraosseous osteosarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003721 MONDO:0002930 True kidney osteogenic sarcoma kidney sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003721 MONDO:0002930 True kidney osteogenic sarcoma kidney sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0003722 MONDO:0003121 True internal auditory canal meningioma middle cranial fossa meningioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003724 MONDO:0005219 True non-proliferative fibrocystic change of the breast breast fibrocystic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003725 MONDO:0002657 True breast adenosis breast disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003726 MONDO:0003724 True apocrine adenosis of breast non-proliferative fibrocystic change of the breast UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003726 MONDO:0003725 True apocrine adenosis of breast breast adenosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003727 MONDO:0012000 True animal phobia specific phobia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003728 MONDO:0002490 True breast fibrosarcoma breast sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003724 MONDO:0005219 True non-proliferative fibrocystic change of the breast breast fibrocystic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003725 MONDO:0002657 True breast adenosis breast disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003726 MONDO:0003724 True apocrine adenosis of breast non-proliferative fibrocystic change of the breast UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003727 MONDO:0012000 True animal phobia specific phobia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003728 MONDO:0002490 True breast fibrosarcoma breast sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0003728 MONDO:0005164 True breast fibrosarcoma fibrosarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003729 MONDO:0003730 True aleukemic leukemia cutis aleukemic leukemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003730 MONDO:0005059 True aleukemic leukemia leukemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003731 MONDO:0002718 True adult central nervous system teratoma central nervous system teratoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003729 MONDO:0003730 True aleukemic leukemia cutis aleukemic leukemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003730 MONDO:0005059 True aleukemic leukemia leukemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003731 MONDO:0002718 True adult central nervous system teratoma central nervous system teratoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0003731 MONDO:0003405 True adult central nervous system teratoma adult central nervous system germ cell tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003731 MONDO:0003516 True adult central nervous system teratoma adult teratoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003732 MONDO:0003731 True adult central nervous system mature teratoma adult central nervous system teratoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003732 MONDO:0003733 True adult central nervous system mature teratoma central nervous system mature teratoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003733 MONDO:0002718 True central nervous system mature teratoma central nervous system teratoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003732 MONDO:0003731 True adult central nervous system mature teratoma adult central nervous system teratoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003732 MONDO:0003733 True adult central nervous system mature teratoma central nervous system mature teratoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003733 MONDO:0002718 True central nervous system mature teratoma central nervous system teratoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0003733 MONDO:0003517 True central nervous system mature teratoma mature teratoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003734 MONDO:0003731 True adult central nervous system immature teratoma adult central nervous system teratoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003734 MONDO:0003735 True adult central nervous system immature teratoma central nervous system immature teratoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003735 MONDO:0002718 True central nervous system immature teratoma central nervous system teratoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003734 MONDO:0003731 True adult central nervous system immature teratoma adult central nervous system teratoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003734 MONDO:0003735 True adult central nervous system immature teratoma central nervous system immature teratoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003735 MONDO:0002718 True central nervous system immature teratoma central nervous system teratoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003736 MONDO:0000600 True cancerophobia nosophobia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0003737 MONDO:0000377 True malignant testicular Leydig cell tumor malignant Leydig cell tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0003737 MONDO:0003124 True malignant testicular Leydig cell tumor testicular Leydig cell tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003739 MONDO:0002211 True selective immunoglobulin deficiency disease B cell deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003741 MONDO:0003395 True juvenile type testicular granulosa cell tumor testicular granulosa cell tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003742 MONDO:0003354 True heart fibrosarcoma heart sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003738 MONDO:0001342 True selective IgE deficiency disease dysgammaglobulinemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003739 MONDO:0002211 True selective immunoglobulin deficiency disease B cell deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003740 MONDO:0000600 True AIDS phobia nosophobia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003741 MONDO:0003395 True juvenile type testicular granulosa cell tumor testicular granulosa cell tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003742 MONDO:0003354 True heart fibrosarcoma heart sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0003742 MONDO:0005164 True heart fibrosarcoma fibrosarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003743 MONDO:0005094 True heart malignant hemangiopericytoma hemangiopericytoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003744 MONDO:0006427 True spindle cell intraocular melanoma spindle cell melanoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003744 MONDO:0006486 True spindle cell intraocular melanoma uveal melanoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003745 MONDO:0003744 True choroid spindle cell melanoma spindle cell intraocular melanoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003745 MONDO:0003878 True choroid spindle cell melanoma malignant choroid melanoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003745 MONDO:0003878 True choroid spindle cell melanoma malignant choroid melanoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0003746 MONDO:0003912 True ciliary body spindle cell melanoma malignant ciliary body melanoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003747 MONDO:0002298 True telangiectatic glomangioma cutaneous glomangioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003748 MONDO:0012000 True flying phobia specific phobia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003749 MONDO:0004335 True esophageal disorder digestive system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003750 MONDO:0003000 True childhood central nervous system germ cell tumor central nervous system germ cell tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003747 MONDO:0002298 True telangiectatic glomangioma cutaneous glomangioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003748 MONDO:0012000 True flying phobia specific phobia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003749 MONDO:0004335 True esophageal disorder digestive system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003750 MONDO:0003000 True childhood central nervous system germ cell tumor central nervous system germ cell tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0003750 MONDO:0003751 True childhood central nervous system germ cell tumor childhood germ cell tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003751 MONDO:0005040 True childhood germ cell tumor germ cell tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003751 MONDO:0005040 True childhood germ cell tumor germ cell tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0003751 MONDO:0021079 True childhood germ cell tumor childhood neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0003752 MONDO:0006353 True frontal sinus Schneiderian papilloma paranasal sinus Schneiderian papilloma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0003752 MONDO:0021483 True frontal sinus Schneiderian papilloma benign neoplasm of frontal sinus UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0003753 MONDO:0001825 True nasal vestibule squamous papilloma squamous papilloma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003753 MONDO:0021475 True nasal vestibule squamous papilloma benign neoplasm of nasal cavity UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003754 MONDO:0002254 True Brown-Sequard syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003754 MONDO:0003757 True Brown-Sequard syndrome paraplegia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0003755 MONDO:0024337 True urinary tract non-invasive transitional cell neoplasm urothelial neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003756 MONDO:0002229 True ovarian mucinous neoplasm ovarian epithelial tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003758 MONDO:0010108 True childhood testicular germ cell tumor testicular germ cell tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003756 MONDO:0002229 True ovarian mucinous neoplasm ovarian epithelial tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003758 MONDO:0010108 True childhood testicular germ cell tumor testicular germ cell tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0003758 MONDO:0020577 True childhood testicular germ cell tumor childhood gonadal germ cell tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0003758 MONDO:0037250 True childhood testicular germ cell tumor childhood testicular neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0003759 MONDO:0003400 True childhood ovarian yolk sac tumor childhood endodermal sinus tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003759 MONDO:0003760 True childhood ovarian yolk sac tumor pediatric ovarian germ cell tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003759 MONDO:0006344 True childhood ovarian yolk sac tumor ovarian yolk sac tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003759 MONDO:0006344 True childhood ovarian yolk sac tumor ovarian yolk sac tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0003759 MONDO:0020577 True childhood ovarian yolk sac tumor childhood gonadal germ cell tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0003760 MONDO:0003751 True pediatric ovarian germ cell tumor childhood germ cell tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003760 MONDO:0011366 True pediatric ovarian germ cell tumor ovarian germ cell tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003761 MONDO:0003762 True leptomeningeal melanoma malignant leptomeningeal tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003760 MONDO:0011366 True pediatric ovarian germ cell tumor ovarian germ cell tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003761 MONDO:0003762 True leptomeningeal melanoma malignant leptomeningeal tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0003761 MONDO:0016747 True leptomeningeal melanoma primary melanoma of the central nervous system UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0003762 MONDO:0016642 True malignant leptomeningeal tumor meningioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0003762 MONDO:0021322 True malignant leptomeningeal tumor malignant tumor of meninges UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003763 MONDO:0005618 True acute stress disorder anxiety disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003764 MONDO:0003761 True pediatric leptomeningeal melanoma leptomeningeal melanoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003765 MONDO:0003761 True adult leptomeningeal melanoma leptomeningeal melanoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003766 MONDO:0002786 True thalamic cancer diencephalic cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003767 MONDO:0002869 True mitral valve disorder heart valve disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003768 MONDO:0002742 True signet ring cell variant cervical mucinous adenocarcinoma cervical mucinous adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003763 MONDO:0005618 True acute stress disorder anxiety disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003764 MONDO:0003761 True pediatric leptomeningeal melanoma leptomeningeal melanoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003765 MONDO:0003761 True adult leptomeningeal melanoma leptomeningeal melanoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003766 MONDO:0002786 True thalamic cancer diencephalic cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003767 MONDO:0002869 True mitral valve disorder heart valve disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003768 MONDO:0002742 True signet ring cell variant cervical mucinous adenocarcinoma cervical mucinous adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0003768 MONDO:0005092 True signet ring cell variant cervical mucinous adenocarcinoma signet ring cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003769 MONDO:0002270 True herpetic gastritis viral gastritis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003770 MONDO:0001279 True thoracic spinal canal and spinal cord meningioma intraspinal meningioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003771 MONDO:0016642 True jugular foramen meningioma meningioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003773 MONDO:0003772 True intracerebral cystic meningioma cerebral meningioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003774 MONDO:0003772 True cerebral convexity meningioma cerebral meningioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003775 MONDO:0002772 True lateral ventricle meningioma intraventricular meningioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003775 MONDO:0003772 True lateral ventricle meningioma cerebral meningioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003776 MONDO:0003777 True renal pelvis inverted papilloma renal pelvis urothelial papilloma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003769 MONDO:0002270 True herpetic gastritis viral gastritis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003770 MONDO:0001279 True thoracic spinal canal and spinal cord meningioma intraspinal meningioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003771 MONDO:0016642 True jugular foramen meningioma meningioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003772 MONDO:0000642 True cerebral meningioma brain meningioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003772 MONDO:0002731 True cerebral meningioma cerebral hemisphere cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003773 MONDO:0003772 True intracerebral cystic meningioma cerebral meningioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003774 MONDO:0003772 True cerebral convexity meningioma cerebral meningioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003775 MONDO:0002772 True lateral ventricle meningioma intraventricular meningioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003775 MONDO:0003772 True lateral ventricle meningioma cerebral meningioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003776 MONDO:0003777 True renal pelvis inverted papilloma renal pelvis urothelial papilloma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0003776 MONDO:0021109 True renal pelvis inverted papilloma inverted urothelial papilloma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003777 MONDO:0003717 True renal pelvis urothelial papilloma renal pelvis papillary tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003777 MONDO:0003717 True renal pelvis urothelial papilloma renal pelvis papillary tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0003777 MONDO:0004041 True renal pelvis urothelial papilloma urothelial papilloma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003777 MONDO:0021467 True renal pelvis urothelial papilloma benign neoplasm of renal pelvis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003780 MONDO:0021094 True T-cell immunodeficiency immunodeficiency disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0003781 MONDO:0001358 True bronchitis bronchial disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0003782 MONDO:0003356 True uterine corpus epithelioid leiomyosarcoma epithelioid leiomyosarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003782 MONDO:0016262 True uterine corpus epithelioid leiomyosarcoma leiomyosarcoma of the corpus uteri UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003782 MONDO:0016262 True uterine corpus epithelioid leiomyosarcoma leiomyosarcoma of the corpus uteri UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003783 MONDO:0003785 True lymphopenia leukopenia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0003784 MONDO:0003212 True nasal cavity carcinoma in situ nasal cavity carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003786 MONDO:0003508 True childhood testicular choriocarcinoma choriocarcinoma of testis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003784 MONDO:0004647 True nasal cavity carcinoma in situ in situ carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003785 MONDO:0004805 True leukopenia leukocyte disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003786 MONDO:0003508 True childhood testicular choriocarcinoma choriocarcinoma of testis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0003786 MONDO:0003758 True childhood testicular choriocarcinoma childhood testicular germ cell tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003786 MONDO:0004479 True childhood testicular choriocarcinoma malignant childhood germ cell neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003787 MONDO:0003120 True childhood testicular mixed germ cell cancer mixed testicular germ cell cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003787 MONDO:0003120 True childhood testicular mixed germ cell cancer mixed testicular germ cell cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0003787 MONDO:0003758 True childhood testicular mixed germ cell cancer childhood testicular germ cell tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003787 MONDO:0004479 True childhood testicular mixed germ cell cancer malignant childhood germ cell neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003788 MONDO:0003758 True childhood embryonal testis carcinoma childhood testicular germ cell tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003788 MONDO:0004479 True childhood embryonal testis carcinoma malignant childhood germ cell neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003788 MONDO:0006446 True childhood embryonal testis carcinoma testicular embryonal carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003789 MONDO:0003008 True hereditary papillary renal cell carcinoma hereditary renal cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003788 MONDO:0006446 True childhood embryonal testis carcinoma testicular embryonal carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003789 MONDO:0003008 True hereditary papillary renal cell carcinoma hereditary renal cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0003789 MONDO:0017884 True hereditary papillary renal cell carcinoma papillary renal cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003790 MONDO:0002834 True prostatic urethra urothelial carcinoma primary prostate urothelial carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003790 MONDO:0002836 True prostatic urethra urothelial carcinoma urethra transitional cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003790 MONDO:0003791 True prostatic urethra urothelial carcinoma prostatic urethral cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003791 MONDO:0004197 True prostatic urethral cancer male urethral cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003790 MONDO:0003791 True prostatic urethra urothelial carcinoma prostatic urethral cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003791 MONDO:0004197 True prostatic urethral cancer male urethral cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0003792 MONDO:0002928 True ovarian carcinosarcoma carcinosarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003792 MONDO:0003812 True ovarian carcinosarcoma ovarian endometrial cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003795 MONDO:0005140 True ovarian small cell carcinoma ovarian carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003796 MONDO:0002168 True rectum Kaposi sarcoma rectum sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003795 MONDO:0005140 True ovarian small cell carcinoma ovarian carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003796 MONDO:0002168 True rectum Kaposi sarcoma rectum sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0003796 MONDO:0024659 True rectum Kaposi sarcoma colorectal Kaposi sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003799 MONDO:0006170 True conjunctivitis conjunctival disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003799 MONDO:0006170 True conjunctivitis conjunctival disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0003800 MONDO:0009330 True conventional malignant hemangiopericytoma hemangiopericytoma, malignant UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0003801 MONDO:0021238 True corneal intraepithelial neoplasm cornea neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0003801 MONDO:0024475 True corneal intraepithelial neoplasm squamous cell intraepithelial neoplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003802 MONDO:0002236 True cornea cancer ocular cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003802 MONDO:0002236 True cornea cancer ocular cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0003802 MONDO:0021238 True cornea cancer cornea neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003803 MONDO:0002869 True aortic valve disorder heart valve disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003805 MONDO:0001322 True malignant pericardial mesothelioma pericardium cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003803 MONDO:0002869 True aortic valve disorder heart valve disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003803 MONDO:0005561 True aortic valve disorder aortic disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003805 MONDO:0001322 True malignant pericardial mesothelioma pericardium cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0003805 MONDO:0006292 True malignant pericardial mesothelioma malignant mesothelioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003806 MONDO:0015074 True thyroid hyalinizing trabecular adenoma thyroid tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0003808 MONDO:0002621 True mediastinal extraskeletal osteosarcoma extraosseous osteosarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003808 MONDO:0002852 True mediastinal extraskeletal osteosarcoma mediastinum sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003808 MONDO:0002852 True mediastinal extraskeletal osteosarcoma mediastinum sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0003809 MONDO:0009330 True malignant mediastinum hemangiopericytoma hemangiopericytoma, malignant UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003810 MONDO:0003386 True bladder diffuse clear cell adenocarcinoma bladder clear cell adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003810 MONDO:0003386 True bladder diffuse clear cell adenocarcinoma bladder clear cell adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0003811 MONDO:0002229 True ovarian seromucinous tumor ovarian epithelial tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003812 MONDO:0002480 True ovarian endometrial cancer endometrioid tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003812 MONDO:0002480 True ovarian endometrial cancer endometrioid tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0003812 MONDO:0018364 True ovarian endometrial cancer malignant epithelial tumor of ovary UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003813 MONDO:0002229 True ovarian papillary tumor ovarian epithelial tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003813 MONDO:0002229 True ovarian papillary tumor ovarian epithelial tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0003813 MONDO:0021096 True ovarian papillary tumor papillary epithelial neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0003818 MONDO:0003819 True childhood mature teratoma of the ovary childhood teratoma of the ovary UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003818 MONDO:0003820 True childhood mature teratoma of the ovary mature ovarian teratoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003818 MONDO:0003820 True childhood mature teratoma of the ovary mature ovarian teratoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0003819 MONDO:0003760 True childhood teratoma of the ovary pediatric ovarian germ cell tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003819 MONDO:0005602 True childhood teratoma of the ovary ovarian teratoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003819 MONDO:0005602 True childhood teratoma of the ovary ovarian teratoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0003820 MONDO:0003517 True mature ovarian teratoma mature teratoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003820 MONDO:0003821 True mature ovarian teratoma ovarian biphasic or triphasic teratoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003821 MONDO:0005602 True ovarian biphasic or triphasic teratoma ovarian teratoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003822 MONDO:0003442 True non-invasive bladder papillary urothelial neoplasm bladder papillary urothelial neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003820 MONDO:0003821 True mature ovarian teratoma ovarian biphasic or triphasic teratoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003821 MONDO:0005602 True ovarian biphasic or triphasic teratoma ovarian teratoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003822 MONDO:0003442 True non-invasive bladder papillary urothelial neoplasm bladder papillary urothelial neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0003822 MONDO:0003755 True non-invasive bladder papillary urothelial neoplasm urinary tract non-invasive transitional cell neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003824 MONDO:0003825 True hereditary kidney oncocytoma kidney oncocytoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003825 MONDO:0002513 True kidney oncocytoma kidney benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003824 MONDO:0003825 True hereditary kidney oncocytoma kidney oncocytoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003825 MONDO:0002513 True kidney oncocytoma kidney benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0003825 MONDO:0010795 True kidney oncocytoma oncocytic neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0003825 MONDO:0036976 True kidney oncocytoma benign epithelial neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0003826 MONDO:0003668 True mediastinum seminoma extragonadal seminoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003826 MONDO:0006298 True mediastinum seminoma mediastinal malignant germ cell tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003827 MONDO:0016463 True transient hypogammaglobulinemia syndromic agammaglobulinemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003828 MONDO:0002109 True growth hormone-producing pituitary gland carcinoma pituitary cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003829 MONDO:0002395 True chromophil adenoma of the kidney renal adenoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003828 MONDO:0002109 True growth hormone-producing pituitary gland carcinoma pituitary cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003829 MONDO:0002395 True chromophil adenoma of the kidney renal adenoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0003829 MONDO:0002533 True chromophil adenoma of the kidney papillary adenoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003832 MONDO:0021094 True complement deficiency immunodeficiency disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003834 MONDO:0004950 True gastric cardia carcinoma gastric carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003830 MONDO:0003829 True type 1 papillary adenoma of the kidney chromophil adenoma of the kidney UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003831 MONDO:0003829 True type 2 papillary adenoma of the kidney chromophil adenoma of the kidney UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003832 MONDO:0003778 True complement deficiency inborn error of immunity UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003834 MONDO:0001063 True gastric cardia carcinoma cardia cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003834 MONDO:0004950 True gastric cardia carcinoma gastric carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0003835 MONDO:0003834 True gastric cardia adenocarcinoma gastric cardia carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003835 MONDO:0005036 True gastric cardia adenocarcinoma gastric adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003835 MONDO:0005036 True gastric cardia adenocarcinoma gastric adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0003836 MONDO:0003837 True malignant thyroid stimulating hormone producing neoplasm of pituitary gland TSH producing pituitary tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003837 MONDO:0003429 True TSH producing pituitary tumor functioning pituitary gland adenoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0003839 MONDO:0002991 True ovarian mucinous adenocarcinofibroma adenocarcinofibroma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003839 MONDO:0024282 True ovarian mucinous adenocarcinofibroma mucinous ovarian cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003840 MONDO:0003841 True epicardium lipoma heart lipoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003840 MONDO:0003841 True epicardium lipoma heart lipoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0003840 MONDO:0021508 True epicardium lipoma benign neoplasm of epicardium UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003841 MONDO:0005106 True heart lipoma lipoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003841 MONDO:0005106 True heart lipoma lipoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0003841 MONDO:0021450 True heart lipoma benign neoplasm of heart UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0003842 MONDO:0002505 True childhood cerebellar astrocytic neoplasm childhood astrocytic tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003842 MONDO:0003165 True childhood cerebellar astrocytic neoplasm cerebellar astrocytoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003842 MONDO:0003165 True childhood cerebellar astrocytic neoplasm cerebellar astrocytoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0003842 MONDO:0003263 True childhood cerebellar astrocytic neoplasm childhood cerebellar neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003843 MONDO:0003844 True cerebral hemisphere lipoma central nervous system lipoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003843 MONDO:0003844 True cerebral hemisphere lipoma central nervous system lipoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0003843 MONDO:0021497 True cerebral hemisphere lipoma benign neoplasm of cerebrum UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003844 MONDO:0005106 True central nervous system lipoma lipoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003845 MONDO:0003843 True corpus callosum lipoma cerebral hemisphere lipoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003846 MONDO:0001409 True viral esophagitis esophagitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003846 MONDO:0005108 True viral esophagitis viral infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003846 MONDO:0043424 True viral esophagitis digestive system infectious disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003848 MONDO:0003393 True ectopic thymus thymus gland disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003849 MONDO:0002892 True clivus chordoma skull base chordoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003850 MONDO:0003849 True clivus chondroid chordoma clivus chordoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003844 MONDO:0000628 True central nervous system lipoma central nervous system organ benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003844 MONDO:0005106 True central nervous system lipoma lipoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003845 MONDO:0003843 True corpus callosum lipoma cerebral hemisphere lipoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003846 MONDO:0001409 True viral esophagitis esophagitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003846 MONDO:0005108 True viral esophagitis viral infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003848 MONDO:0003393 True ectopic thymus thymus gland disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003849 MONDO:0002892 True clivus chordoma skull base chordoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003850 MONDO:0003849 True clivus chondroid chordoma clivus chordoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0003850 MONDO:0006145 True clivus chondroid chordoma chondroid chordoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003851 MONDO:0003820 True ovarian fetiform teratoma mature ovarian teratoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003852 MONDO:0003820 True ovarian solid teratoma mature ovarian teratoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003853 MONDO:0002829 True Bartholin gland adenocarcinoma bartholin gland carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003851 MONDO:0003820 True ovarian fetiform teratoma mature ovarian teratoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003852 MONDO:0003820 True ovarian solid teratoma mature ovarian teratoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003853 MONDO:0002829 True Bartholin gland adenocarcinoma bartholin gland carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0003853 MONDO:0024336 True Bartholin gland adenocarcinoma vulvar adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003856 MONDO:0009330 True adult malignant hemangiopericytoma hemangiopericytoma, malignant UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0003857 MONDO:0037740 True adult intracranial malignant hemangiopericytoma malignant central nervous system mesenchymal, non-meningothelial neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0003858 MONDO:0024648 True anterior optic tract meningioma optic tract meningioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003859 MONDO:0002640 True bilateral meningioma of optic nerve optic nerve neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003859 MONDO:0002640 True bilateral meningioma of optic nerve optic nerve neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0003859 MONDO:0024648 True bilateral meningioma of optic nerve optic tract meningioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003860 MONDO:0002553 True cerebellopontine angle meningioma cerebellopontine angle tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003860 MONDO:0000642 True cerebellopontine angle meningioma brain meningioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003860 MONDO:0002553 True cerebellopontine angle meningioma cerebellopontine angle tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0003861 MONDO:0024240 True vulvar eccrine adenocarcinoma eccrine carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003861 MONDO:0024336 True vulvar eccrine adenocarcinoma vulvar adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003862 MONDO:0003863 True melanotic psammomatous malignant peripheral nerve sheath tumor malignant melanocytic neoplasm of the peripheral nerve sheath UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003863 MONDO:0017827 True malignant melanocytic neoplasm of the peripheral nerve sheath malignant peripheral nerve sheath tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003865 MONDO:0005012 True acral lentiginous melanoma cutaneous melanoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003861 MONDO:0024336 True vulvar eccrine adenocarcinoma vulvar adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003862 MONDO:0003863 True melanotic psammomatous malignant peripheral nerve sheath tumor malignant melanocytic neoplasm of the peripheral nerve sheath UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003863 MONDO:0017827 True malignant melanocytic neoplasm of the peripheral nerve sheath malignant peripheral nerve sheath tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003864 MONDO:0004948 True chronic lymphocytic leukemia/small lymphocytic lymphoma B-cell chronic lymphocytic leukemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003865 MONDO:0005012 True acral lentiginous melanoma cutaneous melanoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0003866 MONDO:0002397 True liver extraskeletal osteosarcoma liver sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003866 MONDO:0002621 True liver extraskeletal osteosarcoma extraosseous osteosarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003867 MONDO:0003222 True diffuse meningeal melanocytosis central nervous system melanocytic neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003868 MONDO:0003109 True anterior foramen magnum meningioma foramen magnum meningioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003867 MONDO:0003222 True diffuse meningeal melanocytosis central nervous system melanocytic neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003868 MONDO:0003109 True anterior foramen magnum meningioma foramen magnum meningioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0003869 MONDO:0002911 True childhood brain stem glioma brain stem glioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003869 MONDO:0002914 True childhood brain stem glioma childhood brain stem neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003869 MONDO:0002914 True childhood brain stem glioma childhood brain stem neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0003870 MONDO:0002505 True childhood brainstem astrocytoma childhood astrocytic tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003870 MONDO:0003173 True childhood brainstem astrocytoma brain stem astrocytic neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003870 MONDO:0003869 True childhood brainstem astrocytoma childhood brain stem glioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003872 MONDO:0003813 True ovarian papillary cystadenoma ovarian papillary tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003870 MONDO:0003869 True childhood brainstem astrocytoma childhood brain stem glioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003872 MONDO:0003813 True ovarian papillary cystadenoma ovarian papillary tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0003872 MONDO:0005183 True ovarian papillary cystadenoma ovarian cystadenoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003873 MONDO:0000646 True ovarian surface papilloma ovarian benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003873 MONDO:0002362 True ovarian surface papilloma serous surface papilloma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003873 MONDO:0003813 True ovarian surface papilloma ovarian papillary tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003873 MONDO:0003813 True ovarian surface papilloma ovarian papillary tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0003874 MONDO:0002512 True ovarian serous surface papillary adenocarcinoma papillary adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003874 MONDO:0003813 True ovarian serous surface papillary adenocarcinoma ovarian papillary tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003874 MONDO:0005211 True ovarian serous surface papillary adenocarcinoma ovarian serous adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003875 MONDO:0003733 True childhood central nervous system mature teratoma central nervous system mature teratoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003875 MONDO:0003733 True childhood central nervous system mature teratoma central nervous system mature teratoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0003875 MONDO:0003750 True childhood central nervous system mature teratoma childhood central nervous system germ cell tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003876 MONDO:0002466 True eyelid carcinoma eye carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003876 MONDO:0002656 True eyelid carcinoma skin carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0003876 MONDO:0021313 True eyelid carcinoma eyelid cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0003878 MONDO:0006486 True malignant choroid melanoma uveal melanoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003878 MONDO:0006700 True malignant choroid melanoma choroid cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003878 MONDO:0006700 True malignant choroid melanoma choroid cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003879 MONDO:0008170 True ovarian endometrioid adenocarcinofibroma ovarian cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0003880 MONDO:0002944 True ceruminous carcinoma external ear carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003880 MONDO:0003214 True ceruminous carcinoma apocrine adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003880 MONDO:0003214 True ceruminous carcinoma apocrine adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0003881 MONDO:0003214 True vulvar apocrine adenocarcinoma apocrine adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003881 MONDO:0024336 True vulvar apocrine adenocarcinoma vulvar adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003882 MONDO:0002217 True central nervous system fibrosarcoma central nervous system sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003882 MONDO:0005164 True central nervous system fibrosarcoma fibrosarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003881 MONDO:0024336 True vulvar apocrine adenocarcinoma vulvar adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003882 MONDO:0002217 True central nervous system fibrosarcoma central nervous system sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003882 MONDO:0005164 True central nervous system fibrosarcoma fibrosarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0003884 MONDO:0003885 True lipoma of the rectum colorectal lipoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003884 MONDO:0021462 True lipoma of the rectum benign neoplasm of rectum UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003885 MONDO:0005106 True colorectal lipoma lipoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003885 MONDO:0005106 True colorectal lipoma lipoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0003885 MONDO:0021444 True colorectal lipoma benign neoplasm of large intestine UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0003886 MONDO:0002398 True mucinous cystadenofibroma mucinous adenofibroma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003886 MONDO:0003464 True mucinous cystadenofibroma cystadenofibroma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003887 MONDO:0000646 True ovarian mucinous adenofibroma ovarian benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003886 MONDO:0003464 True mucinous cystadenofibroma cystadenofibroma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003887 MONDO:0000646 True ovarian mucinous adenofibroma ovarian benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0003887 MONDO:0002229 True ovarian mucinous adenofibroma ovarian epithelial tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003887 MONDO:0002398 True ovarian mucinous adenofibroma mucinous adenofibroma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003888 MONDO:0003787 True childhood testicular mixed embryonal carcinoma and teratoma childhood testicular mixed germ cell cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003889 MONDO:0003890 True infiltrating bladder urothelial carcinoma, clear cell variant infiltrating bladder urothelial carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003890 MONDO:0005611 True infiltrating bladder urothelial carcinoma bladder transitional cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003888 MONDO:0003787 True childhood testicular mixed embryonal carcinoma and teratoma childhood testicular mixed germ cell cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003889 MONDO:0003890 True infiltrating bladder urothelial carcinoma, clear cell variant infiltrating bladder urothelial carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003890 MONDO:0005611 True infiltrating bladder urothelial carcinoma bladder transitional cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0003890 MONDO:0040678 True infiltrating bladder urothelial carcinoma infiltrating urothelial carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003891 MONDO:0002751 True bladder signet ring cell adenocarcinoma bladder adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003891 MONDO:0002751 True bladder signet ring cell adenocarcinoma bladder adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0003891 MONDO:0005092 True bladder signet ring cell adenocarcinoma signet ring cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003892 MONDO:0005061 True acinar lung adenocarcinoma lung adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003892 MONDO:0005061 True acinar lung adenocarcinoma lung adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0003893 MONDO:0003562 True rete testis adenoma rete testis neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003894 MONDO:0002558 True mediastinal melanocytic neurilemmoma melanotic neurilemmoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003895 MONDO:0002628 True periosteal osteogenic sarcoma peripheral osteosarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003893 MONDO:0004972 True rete testis adenoma adenoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003894 MONDO:0002558 True mediastinal melanocytic neurilemmoma melanotic neurilemmoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003895 MONDO:0002628 True periosteal osteogenic sarcoma peripheral osteosarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0003896 MONDO:0002407 True breast capillary hemangioma capillary hemangioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003896 MONDO:0003126 True breast capillary hemangioma breast hemangioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003897 MONDO:0003126 True breast epithelioid hemangioma breast hemangioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003896 MONDO:0003126 True breast capillary hemangioma breast hemangioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003897 MONDO:0003126 True breast epithelioid hemangioma breast hemangioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0003897 MONDO:0021169 True breast epithelioid hemangioma epithelioid hemangioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003898 MONDO:0003681 True pediatric myxoid chondrosarcoma myxoid chondrosarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0003898 MONDO:0006517 True pediatric myxoid chondrosarcoma childhood malignant neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0003901 MONDO:0016748 True cerebellar hemangioblastoma hemangioblastoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003902 MONDO:0016748 True brain stem hemangioblastoma hemangioblastoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003903 MONDO:0001731 True benign vaginal mixed tumor benign vaginal mixed epithelial and mesenchymal neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003904 MONDO:0005097 True lung occult squamous cell carcinoma squamous cell lung carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003905 MONDO:0006344 True ovarian yolk sac tumor, glandular pattern ovarian yolk sac tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003906 MONDO:0006344 True ovarian yolk sac tumor, hepatoid pattern ovarian yolk sac tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003907 MONDO:0006344 True ovarian yolk sac tumor, polyvesicular vitelline pattern ovarian yolk sac tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003908 MONDO:0002919 True clivus meningioma posterior cranial fossa meningioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003908 MONDO:0002998 True clivus meningioma skull base meningioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003903 MONDO:0001731 True benign vaginal mixed tumor benign vaginal mixed epithelial and mesenchymal neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003904 MONDO:0005097 True lung occult squamous cell carcinoma squamous cell lung carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003905 MONDO:0006344 True ovarian yolk sac tumor, glandular pattern ovarian yolk sac tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003906 MONDO:0006344 True ovarian yolk sac tumor, hepatoid pattern ovarian yolk sac tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003907 MONDO:0006344 True ovarian yolk sac tumor, polyvesicular vitelline pattern ovarian yolk sac tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003908 MONDO:0002919 True clivus meningioma posterior cranial fossa meningioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003908 MONDO:0002998 True clivus meningioma skull base meningioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003909 MONDO:0002193 True Bartholin gland adenomyoma Bartholin gland benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0003909 MONDO:0002198 True Bartholin gland adenomyoma vulvar glandular neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003909 MONDO:0036976 True Bartholin gland adenomyoma benign epithelial neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003910 MONDO:0006486 True mixed cell uveal melanoma uveal melanoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003911 MONDO:0003910 True ciliary body mixed cell melanoma mixed cell uveal melanoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003910 MONDO:0006486 True mixed cell uveal melanoma uveal melanoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003911 MONDO:0003910 True ciliary body mixed cell melanoma mixed cell uveal melanoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0003911 MONDO:0003912 True ciliary body mixed cell melanoma malignant ciliary body melanoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003912 MONDO:0002969 True malignant ciliary body melanoma ciliary body cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003913 MONDO:0003878 True choroid mixed cell melanoma malignant choroid melanoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003912 MONDO:0002969 True malignant ciliary body melanoma ciliary body cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003913 MONDO:0003878 True choroid mixed cell melanoma malignant choroid melanoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0003913 MONDO:0003910 True choroid mixed cell melanoma mixed cell uveal melanoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003915 MONDO:0016974 True cortical thymoma thymoma type B UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003917 MONDO:0001340 True heart lymphoma heart cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003917 MONDO:0005062 True heart lymphoma lymphoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003918 MONDO:0016642 True angiomatous meningioma meningioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003921 MONDO:0003109 True posterior foramen magnum meningioma foramen magnum meningioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003915 MONDO:0016974 True cortical thymoma thymoma type B UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003916 MONDO:0005137 True overnutrition nutritional disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003917 MONDO:0001340 True heart lymphoma heart cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003917 MONDO:0005062 True heart lymphoma lymphoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003918 MONDO:0016642 True angiomatous meningioma meningioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003921 MONDO:0003109 True posterior foramen magnum meningioma foramen magnum meningioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0003922 MONDO:0000548 True ovarian clear cell malignant adenofibroma ovarian clear cell cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003923 MONDO:0006353 True ethmoid sinus Schneiderian papilloma paranasal sinus Schneiderian papilloma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0003923 MONDO:0021515 True ethmoid sinus Schneiderian papilloma benign neoplasm of ethmoidal sinus UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003924 MONDO:0004972 True adrenal cortex adenoma adenoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003924 MONDO:0004972 True adrenal cortex adenoma adenoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0003924 MONDO:0021511 True adrenal cortex adenoma benign neoplasm of adrenal gland UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0003924 MONDO:0036591 True adrenal cortex adenoma adrenal cortex neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0003924 MONDO:0036976 True adrenal cortex adenoma benign epithelial neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0003925 MONDO:0002537 True ethmoid sinus inverted papilloma inverted papilloma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003925 MONDO:0003923 True ethmoid sinus inverted papilloma ethmoid sinus Schneiderian papilloma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003926 MONDO:0004820 True neurilemmoma of the pleura peripheral nerve schwannoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003926 MONDO:0004820 True neurilemmoma of the pleura peripheral nerve schwannoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003927 MONDO:0006486 True posterior uveal melanoma uveal melanoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0003928 MONDO:0003359 True uterine corpus myxoid leiomyosarcoma myxoid leiomyosarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003928 MONDO:0016262 True uterine corpus myxoid leiomyosarcoma leiomyosarcoma of the corpus uteri UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003929 MONDO:0002194 True vestibular micropapillomatosis vestibular papilloma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003928 MONDO:0016262 True uterine corpus myxoid leiomyosarcoma leiomyosarcoma of the corpus uteri UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003929 MONDO:0002194 True vestibular micropapillomatosis vestibular papilloma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003930 MONDO:0005611 True non-invasive bladder urothelial carcinoma bladder transitional cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0003931 MONDO:0024649 True childhood optic tract astrocytoma optic tract astrocytoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0003932 MONDO:0003235 True childhood optic nerve glioma optic nerve glioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0003932 MONDO:0021079 True childhood optic nerve glioma childhood neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003933 MONDO:0002129 True chest wall bone cancer bone cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003933 MONDO:0002129 True chest wall bone cancer bone cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0003933 MONDO:0021323 True chest wall bone cancer malignant neoplasm of chest wall UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0003934 MONDO:0003214 True breast apocrine carcinoma apocrine adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003935 MONDO:0004988 True oncocytic breast carcinoma breast adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003935 MONDO:0004988 True oncocytic breast carcinoma breast adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0003935 MONDO:0006256 True oncocytic breast carcinoma invasive breast carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0003936 MONDO:0005606 True invasive tubular breast carcinoma tubular adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003938 MONDO:0002751 True bladder colonic type adenocarcinoma bladder adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003941 MONDO:0017885 True classic variant of chromophobe renal cell carcinoma chromophobe renal cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003942 MONDO:0017885 True eosinophilic variant of chromophobe renal cell carcinoma chromophobe renal cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003943 MONDO:0003844 True central nervous system hibernoma central nervous system lipoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003938 MONDO:0002751 True bladder colonic type adenocarcinoma bladder adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003939 MONDO:0002081 True muscle tissue disorder musculoskeletal system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003940 MONDO:0005095 True Kummell disease spondyloarthropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003941 MONDO:0017885 True classic variant of chromophobe renal cell carcinoma chromophobe renal cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003942 MONDO:0017885 True eosinophilic variant of chromophobe renal cell carcinoma chromophobe renal cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003943 MONDO:0003844 True central nervous system hibernoma central nervous system lipoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0003943 MONDO:0021168 True central nervous system hibernoma hibernoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003944 MONDO:0003293 True endobronchial leiomyoma lung leiomyoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003944 MONDO:0003293 True endobronchial leiomyoma lung leiomyoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0003945 MONDO:0021169 True bone epithelioid hemangioma epithelioid hemangioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003946 MONDO:0003434 True vaginal villous adenoma vaginal adenoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003947 MONDO:0002468 True hyper-IgM syndrome hyperimmunoglobulin syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003948 MONDO:0003428 True cerebral hemangioma brain hemangioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003946 MONDO:0003434 True vaginal villous adenoma vaginal adenoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003947 MONDO:0002468 True hyper-IgM syndrome hyperimmunoglobulin syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003948 MONDO:0003428 True cerebral hemangioma brain hemangioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0003948 MONDO:0021497 True cerebral hemangioma benign neoplasm of cerebrum UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0003950 MONDO:0002482 True nipple carcinoma nipple neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003950 MONDO:0004989 True nipple carcinoma breast carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003950 MONDO:0004989 True nipple carcinoma breast carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0003951 MONDO:0003110 True scrotal hemangioma skin hemangioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003951 MONDO:0021472 True scrotal hemangioma benign neoplasm of scrotum UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0003952 MONDO:0003405 True adult central nervous system choriocarcinoma adult central nervous system germ cell tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS @@ -2581,170 +3751,190 @@ MONDO:0003953 MONDO:0003750 True pediatric CNS choriocarcinoma childhood central MONDO:0003953 MONDO:0004479 True pediatric CNS choriocarcinoma malignant childhood germ cell neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003953 MONDO:0016740 True pediatric CNS choriocarcinoma choriocarcinoma of the central nervous system UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0003955 MONDO:0004253 True juvenile breast papillomatosis intraductal breast papillomatosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003957 MONDO:0003248 True adult pineoblastoma adult pineal parenchymal tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003956 MONDO:0005381 True Baastrup syndrome bone disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003957 MONDO:0003248 True adult pineoblastoma adult pineal parenchymal tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0003957 MONDO:0016722 True adult pineoblastoma pineoblastoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003958 MONDO:0003735 True childhood central nervous system immature teratoma central nervous system immature teratoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003958 MONDO:0003735 True childhood central nervous system immature teratoma central nervous system immature teratoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0003958 MONDO:0003750 True childhood central nervous system immature teratoma childhood central nervous system germ cell tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003959 MONDO:0002485 True breast large cell neuroendocrine carcinoma breast neuroendocrine neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003959 MONDO:0005057 True breast large cell neuroendocrine carcinoma large cell neuroendocrine carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003959 MONDO:0006256 True breast large cell neuroendocrine carcinoma invasive breast carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0003960 MONDO:0003050 True pulmonary large cell neuroendocrine carcinoma lung large cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0003960 MONDO:0005057 True pulmonary large cell neuroendocrine carcinoma large cell neuroendocrine carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003960 MONDO:0005454 True pulmonary large cell neuroendocrine carcinoma lung neuroendocrine neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003962 MONDO:0002254 True Froelich syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003963 MONDO:0002254 True diffuse infiltrative lymphocytosis syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003965 MONDO:0002254 True Capgras syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003966 MONDO:0003508 True testicular monophasic choriocarcinoma choriocarcinoma of testis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003967 MONDO:0002622 True synchronous multifocal osteogenic sarcoma multifocal osteogenic sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003968 MONDO:0002622 True asynchronous multifocal osteogenic sarcoma multifocal osteogenic sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003970 MONDO:0004950 True gastric fundus carcinoma gastric carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003971 MONDO:0004950 True gastric pylorus carcinoma gastric carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003972 MONDO:0004950 True gastric body carcinoma gastric carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003973 MONDO:0003669 True tubular variant testicular seminoma testicular seminoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003962 MONDO:0002150 True Froelich syndrome hypothalamic disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003963 MONDO:0002254 True diffuse infiltrative lymphocytosis syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003964 MONDO:0021167 True myositis ossificans myositis disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003965 MONDO:0004359 True Capgras syndrome delusional disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003966 MONDO:0003508 True testicular monophasic choriocarcinoma choriocarcinoma of testis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003967 MONDO:0002622 True synchronous multifocal osteogenic sarcoma multifocal osteogenic sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003968 MONDO:0002622 True asynchronous multifocal osteogenic sarcoma multifocal osteogenic sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003969 MONDO:0002491 True amphetamine abuse substance abuse UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003970 MONDO:0004950 True gastric fundus carcinoma gastric carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003971 MONDO:0004950 True gastric pylorus carcinoma gastric carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003972 MONDO:0004950 True gastric body carcinoma gastric carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003973 MONDO:0003669 True tubular variant testicular seminoma testicular seminoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0003975 MONDO:0004197 True Littre gland carcinoma male urethral cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003975 MONDO:0021327 True Littre gland carcinoma carcinoma of urethra UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003976 MONDO:0016975 True malignant type AB thymoma thymoma type AB UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003976 MONDO:0016975 True malignant type AB thymoma thymoma type AB UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0003978 MONDO:0000402 True colon small cell neuroendocrine carcinoma small cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003978 MONDO:0002032 True colon small cell neuroendocrine carcinoma colon carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003978 MONDO:0002882 True colon small cell neuroendocrine carcinoma colon neuroendocrine neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003979 MONDO:0003420 True intrahepatic bile duct cystadenoma bile duct cystadenoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003980 MONDO:0004820 True schwannoma of jugular foramen peripheral nerve schwannoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003982 MONDO:0004989 True bilateral breast carcinoma breast carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003983 MONDO:0003982 True synchronous bilateral breast carcinoma bilateral breast carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003984 MONDO:0005106 True internal auditory canal lipoma lipoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003979 MONDO:0003420 True intrahepatic bile duct cystadenoma bile duct cystadenoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003980 MONDO:0004820 True schwannoma of jugular foramen peripheral nerve schwannoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003982 MONDO:0004989 True bilateral breast carcinoma breast carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003983 MONDO:0003982 True synchronous bilateral breast carcinoma bilateral breast carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003984 MONDO:0005106 True internal auditory canal lipoma lipoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0003984 MONDO:0021474 True internal auditory canal lipoma benign neoplasm of ear UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0003984 MONDO:0024320 True internal auditory canal lipoma inner ear neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003985 MONDO:0005062 True chest wall lymphoma lymphoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003985 MONDO:0005062 True chest wall lymphoma lymphoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0003985 MONDO:0021323 True chest wall lymphoma malignant neoplasm of chest wall UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003987 MONDO:0005062 True lung lymphoma lymphoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003987 MONDO:0008903 True lung lymphoma lung cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003988 MONDO:0003273 True sternum lymphoma sternum cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003987 MONDO:0005062 True lung lymphoma lymphoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003987 MONDO:0008903 True lung lymphoma lung cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003988 MONDO:0003273 True sternum lymphoma sternum cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0003989 MONDO:0015863 True polyembryoma of the ovary polyembryoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0003989 MONDO:0016096 True polyembryoma of the ovary malignant non-dysgerminomatous germ cell tumor of ovary UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0003990 MONDO:0002483 True malignant breast myoepithelioma breast myoepithelial tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003990 MONDO:0003158 True malignant breast myoepithelioma malignant myoepithelioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003990 MONDO:0006256 True malignant breast myoepithelioma invasive breast carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0003991 MONDO:0003204 True villoglandular endometrial endometrioid adenocarcinoma villous adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003991 MONDO:0005461 True villoglandular endometrial endometrioid adenocarcinoma endometrium adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003991 MONDO:0005461 True villoglandular endometrial endometrioid adenocarcinoma endometrium adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0003991 MONDO:0006192 True villoglandular endometrial endometrioid adenocarcinoma endometrial endometrioid adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003992 MONDO:0002578 True childhood botryoid rhabdomyosarcoma botryoid rhabdomyosarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003992 MONDO:0002578 True childhood botryoid rhabdomyosarcoma botryoid rhabdomyosarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0003992 MONDO:0006517 True childhood botryoid rhabdomyosarcoma childhood malignant neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0003993 MONDO:0003992 True childhood vagina botryoid rhabdomyosarcoma childhood botryoid rhabdomyosarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003993 MONDO:0003994 True childhood vagina botryoid rhabdomyosarcoma botryoid-type embryonal rhabdomyosarcoma of the vagina UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003994 MONDO:0002578 True botryoid-type embryonal rhabdomyosarcoma of the vagina botryoid rhabdomyosarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003993 MONDO:0003994 True childhood vagina botryoid rhabdomyosarcoma botryoid-type embryonal rhabdomyosarcoma of the vagina UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003994 MONDO:0002578 True botryoid-type embryonal rhabdomyosarcoma of the vagina botryoid rhabdomyosarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0003994 MONDO:0016095 True botryoid-type embryonal rhabdomyosarcoma of the vagina vaginal rhabdomyosarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0003995 MONDO:0003992 True vulvar childhood botryoid-type embryonal rhabdomyosarcoma childhood botryoid rhabdomyosarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003995 MONDO:0005214 True vulvar childhood botryoid-type embryonal rhabdomyosarcoma vulva sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003997 MONDO:0003352 True colon Kaposi sarcoma colon sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003995 MONDO:0005214 True vulvar childhood botryoid-type embryonal rhabdomyosarcoma vulva sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003996 MONDO:0005560 True basal ganglia disorder brain disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003997 MONDO:0003352 True colon Kaposi sarcoma colon sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0003997 MONDO:0024659 True colon Kaposi sarcoma colorectal Kaposi sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0003999 MONDO:0004000 True juvenile pilocytic astrocytoma childhood pilocytic astrocytoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004000 MONDO:0002505 True childhood pilocytic astrocytoma childhood astrocytic tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004000 MONDO:0016691 True childhood pilocytic astrocytoma pilocytic astrocytoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004001 MONDO:0002254 True compartment syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004005 MONDO:0003192 True rete ovarii adenoma rete ovarii neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004000 MONDO:0016691 True childhood pilocytic astrocytoma pilocytic astrocytoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004005 MONDO:0003192 True rete ovarii adenoma rete ovarii neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0004005 MONDO:0024276 True rete ovarii adenoma glandular cell neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004006 MONDO:0003192 True rete ovarii cystadenofibroma rete ovarii neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004006 MONDO:0003192 True rete ovarii cystadenofibroma rete ovarii neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0004006 MONDO:0003464 True rete ovarii cystadenofibroma cystadenofibroma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004007 MONDO:0002488 True breast intraductal proliferative lesion intraductal breast neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004008 MONDO:0004007 True flat ductal epithelial atypia breast intraductal proliferative lesion UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004007 MONDO:0002488 True breast intraductal proliferative lesion intraductal breast neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004008 MONDO:0004007 True flat ductal epithelial atypia breast intraductal proliferative lesion UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0004009 MONDO:0002837 True kidney pelvis sarcomatoid transitional cell carcinoma sarcomatoid transitional cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004009 MONDO:0005221 True kidney pelvis sarcomatoid transitional cell carcinoma renal pelvis urothelial carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004010 MONDO:0040678 True infiltrating renal pelvis/ureter urothelial carcinoma infiltrating urothelial carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004012 MONDO:0002578 True adult botryoid rhabdomyosarcoma botryoid rhabdomyosarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004013 MONDO:0003994 True adult vagina botryoid embryonal rhabdomyosarcoma botryoid-type embryonal rhabdomyosarcoma of the vagina UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004012 MONDO:0002578 True adult botryoid rhabdomyosarcoma botryoid rhabdomyosarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004013 MONDO:0003994 True adult vagina botryoid embryonal rhabdomyosarcoma botryoid-type embryonal rhabdomyosarcoma of the vagina UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0004013 MONDO:0004012 True adult vagina botryoid embryonal rhabdomyosarcoma adult botryoid rhabdomyosarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004014 MONDO:0001764 True ethmoid sinus ectopic meningioma ethmoidal sinus neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004014 MONDO:0001764 True ethmoid sinus ectopic meningioma ethmoidal sinus neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0004015 MONDO:0002718 True pineal region teratoma central nervous system teratoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004015 MONDO:0021232 True pineal region teratoma pineal body neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0004016 MONDO:0003733 True pineal region mature teratoma central nervous system mature teratoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004016 MONDO:0004015 True pineal region mature teratoma pineal region teratoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004016 MONDO:0004015 True pineal region mature teratoma pineal region teratoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004017 MONDO:0002073 True pineal region immature teratoma malignant pineal area germ cell neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0004017 MONDO:0003735 True pineal region immature teratoma central nervous system immature teratoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004017 MONDO:0004015 True pineal region immature teratoma pineal region teratoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004017 MONDO:0004015 True pineal region immature teratoma pineal region teratoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0004017 MONDO:0024746 True pineal region immature teratoma immature teratoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004019 MONDO:0005461 True oxyphilic endometrial endometrioid adenocarcinoma endometrium adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004019 MONDO:0005461 True oxyphilic endometrial endometrioid adenocarcinoma endometrium adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0004019 MONDO:0006192 True oxyphilic endometrial endometrioid adenocarcinoma endometrial endometrioid adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004020 MONDO:0003658 True mediastinal gray zone lymphoma B-cell lymphoma, unclassifiable, with features intermediate between diffuse large b-cell lymphoma and classical Hodgkin lymphoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004020 MONDO:0004021 True mediastinal gray zone lymphoma mediastinal malignant lymphoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004021 MONDO:0005062 True mediastinal malignant lymphoma lymphoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004021 MONDO:0005843 True mediastinal malignant lymphoma mediastinal cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004022 MONDO:0003772 True parasagittal meningioma cerebral meningioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004020 MONDO:0003658 True mediastinal gray zone lymphoma B-cell lymphoma, unclassifiable, with features intermediate between diffuse large b-cell lymphoma and classical Hodgkin lymphoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004020 MONDO:0004021 True mediastinal gray zone lymphoma mediastinal malignant lymphoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004021 MONDO:0005062 True mediastinal malignant lymphoma lymphoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004021 MONDO:0005843 True mediastinal malignant lymphoma mediastinal cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004022 MONDO:0003772 True parasagittal meningioma cerebral meningioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0004024 MONDO:0002749 True spinal cord neuroblastoma extracranial neuroblastoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004024 MONDO:0003544 True spinal cord neuroblastoma spinal cord cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004026 MONDO:0060765 True skin tag fibroepithelial polyp UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004028 MONDO:0003361 True small intestinal fibrosarcoma small intestinal sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004028 MONDO:0005164 True small intestinal fibrosarcoma fibrosarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004030 MONDO:0006481 True ureter transitional cell carcinoma ureter carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004024 MONDO:0003544 True spinal cord neuroblastoma spinal cord cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004026 MONDO:0006603 True skin tag reactive cutaneous fibrous lesion UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004028 MONDO:0003361 True small intestinal fibrosarcoma small intestinal sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004028 MONDO:0005164 True small intestinal fibrosarcoma fibrosarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004030 MONDO:0006481 True ureter transitional cell carcinoma ureter carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0004030 MONDO:0020654 True ureter transitional cell carcinoma renal pelvis/ureter urothelial carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0004031 MONDO:0005140 True ovary mixed epithelial carcinoma ovarian carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0004032 MONDO:0003811 True ovarian seromucinous carcinoma ovarian seromucinous tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0004032 MONDO:0005853 True ovarian seromucinous carcinoma malignant mixed neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0004032 MONDO:0018364 True ovarian seromucinous carcinoma malignant epithelial tumor of ovary UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004034 MONDO:0002236 True eye lymphoma ocular cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004034 MONDO:0005062 True eye lymphoma lymphoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004035 MONDO:0003342 True glomangiomatosis benign perivascular tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004034 MONDO:0002236 True eye lymphoma ocular cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004034 MONDO:0005062 True eye lymphoma lymphoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004035 MONDO:0003342 True glomangiomatosis benign perivascular tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004037 MONDO:0005283 True retinal edema retinal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004038 MONDO:0002220 True dental enamel hypoplasia tooth hard tissue disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004039 MONDO:0002665 True papillary extrahepatic bile duct adenocarcinoma extrahepatic bile duct adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0004040 MONDO:0021109 True urinary bladder inverted papilloma inverted urothelial papilloma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0004040 MONDO:0044906 True urinary bladder inverted papilloma bladder urothelial papilloma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004041 MONDO:0003443 True urothelial papilloma papillary urothelial neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004041 MONDO:0003443 True urothelial papilloma papillary urothelial neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0004041 MONDO:0003755 True urothelial papilloma urinary tract non-invasive transitional cell neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004041 MONDO:0004180 True urothelial papilloma benign urinary system neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004041 MONDO:0004180 True urothelial papilloma benign urinary system neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0004041 MONDO:0005605 True urothelial papilloma transitional cell papilloma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004042 MONDO:0002221 True urethra inverted papilloma urethral urothelial papilloma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004042 MONDO:0002221 True urethra inverted papilloma urethral urothelial papilloma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0004042 MONDO:0021109 True urethra inverted papilloma inverted urothelial papilloma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004043 MONDO:0004044 True ureter inverted papilloma ureter urothelial papilloma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004043 MONDO:0004044 True ureter inverted papilloma ureter urothelial papilloma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0004043 MONDO:0021109 True ureter inverted papilloma inverted urothelial papilloma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004044 MONDO:0001398 True ureter urothelial papilloma ureter benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004044 MONDO:0001398 True ureter urothelial papilloma ureter benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0004044 MONDO:0004041 True ureter urothelial papilloma urothelial papilloma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004045 MONDO:0003077 True pediatric intraocular retinoblastoma intraocular retinoblastoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004045 MONDO:0003077 True pediatric intraocular retinoblastoma intraocular retinoblastoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0004045 MONDO:0006517 True pediatric intraocular retinoblastoma childhood malignant neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0004046 MONDO:0000642 True childhood brain meningioma brain meningioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0004046 MONDO:0003057 True childhood brain meningioma pediatric meningioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004047 MONDO:0005289 True sphenoidal sinus neoplasm paranasal sinus neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004047 MONDO:0005289 True sphenoidal sinus neoplasm paranasal sinus neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004048 MONDO:0003112 True immature gastric teratoma malignant gastric germ cell tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0004048 MONDO:0003513 True immature gastric teratoma gastric teratoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004050 MONDO:0002629 True telangiectatic osteogenic sarcoma bone osteosarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004051 MONDO:0003729 True aleukemic monocytic leukemia cutis aleukemic leukemia cutis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004049 MONDO:0003763 True combat disorder acute stress disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004050 MONDO:0002629 True telangiectatic osteogenic sarcoma bone osteosarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004051 MONDO:0003729 True aleukemic monocytic leukemia cutis aleukemic leukemia cutis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0004051 MONDO:0007896 True aleukemic monocytic leukemia cutis acute monocytic leukemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004052 MONDO:0018515 True rectal cloacogenic carcinoma squamous cell carcinoma of rectum UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004053 MONDO:0002829 True bartholin gland squamous cell carcinoma bartholin gland carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004052 MONDO:0018515 True rectal cloacogenic carcinoma squamous cell carcinoma of rectum UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004053 MONDO:0002829 True bartholin gland squamous cell carcinoma bartholin gland carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0004053 MONDO:0024609 True bartholin gland squamous cell carcinoma vulvar squamous cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004054 MONDO:0004055 True acute canaliculitis acute inflammation of lacrimal passage UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004055 MONDO:0001854 True acute inflammation of lacrimal passage lacrimal apparatus disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0004056 MONDO:0003442 True bladder papillary urothelial carcinoma bladder papillary urothelial neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004056 MONDO:0005611 True bladder papillary urothelial carcinoma bladder transitional cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004056 MONDO:0005611 True bladder papillary urothelial carcinoma bladder transitional cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0004056 MONDO:0006350 True bladder papillary urothelial carcinoma papillary transitional cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004057 MONDO:0003890 True micropapillary variant infiltrating bladder urothelial carcinoma infiltrating bladder urothelial carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004060 MONDO:0017387 True peripheral epithelioid sarcoma epithelioid sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004057 MONDO:0003890 True micropapillary variant infiltrating bladder urothelial carcinoma infiltrating bladder urothelial carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004058 MONDO:0001933 True pancreatic cholera endocrine pancreas disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004059 MONDO:0002220 True dentin sensitivity tooth hard tissue disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004060 MONDO:0017387 True peripheral epithelioid sarcoma epithelioid sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0004062 MONDO:0006486 True intermediate cell type uveal melanoma uveal melanoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004063 MONDO:0004062 True intermediate cell type iris melanoma intermediate cell type uveal melanoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004063 MONDO:0004064 True intermediate cell type iris melanoma iris melanoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004064 MONDO:0002658 True iris melanoma iris cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004063 MONDO:0004062 True intermediate cell type iris melanoma intermediate cell type uveal melanoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004063 MONDO:0004064 True intermediate cell type iris melanoma iris melanoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004064 MONDO:0002658 True iris melanoma iris cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0004064 MONDO:0006486 True iris melanoma uveal melanoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004065 MONDO:0003878 True intermediate cell type choroid melanoma malignant choroid melanoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004065 MONDO:0004062 True intermediate cell type choroid melanoma intermediate cell type uveal melanoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004066 MONDO:0003912 True intermediate cell type ciliary body melanoma malignant ciliary body melanoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004065 MONDO:0003878 True intermediate cell type choroid melanoma malignant choroid melanoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004065 MONDO:0004062 True intermediate cell type choroid melanoma intermediate cell type uveal melanoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004066 MONDO:0003912 True intermediate cell type ciliary body melanoma malignant ciliary body melanoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0004067 MONDO:0004957 True gallbladder mucinous adenocarcinoma mucinous adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004067 MONDO:0006215 True gallbladder mucinous adenocarcinoma gallbladder adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004069 MONDO:0019243 True inborn mitochondrial metabolism disorder inborn disorder of energy metabolism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0004071 MONDO:0002505 True childhood cerebral astrocytoma childhood astrocytic tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004071 MONDO:0002731 True childhood cerebral astrocytoma cerebral hemisphere cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0004071 MONDO:0021633 True childhood cerebral astrocytoma cerebral astrocytoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0004074 MONDO:0003886 True ovarian mucinous cystadenofibroma mucinous cystadenofibroma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004074 MONDO:0003887 True ovarian mucinous cystadenofibroma ovarian mucinous adenofibroma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004075 MONDO:0005106 True infiltrating lipoma lipoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004076 MONDO:0005106 True tendon sheath lipoma lipoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004077 MONDO:0005106 True lumbosacral lipoma lipoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004078 MONDO:0003210 True mucinous intrahepatic cholangiocarcinoma intrahepatic cholangiocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004080 MONDO:0002355 True glottis squamous cell carcinoma glottis carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004074 MONDO:0003887 True ovarian mucinous cystadenofibroma ovarian mucinous adenofibroma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004075 MONDO:0005106 True infiltrating lipoma lipoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004076 MONDO:0005106 True tendon sheath lipoma lipoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004077 MONDO:0005106 True lumbosacral lipoma lipoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004078 MONDO:0003210 True mucinous intrahepatic cholangiocarcinoma intrahepatic cholangiocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004079 MONDO:0003427 True lung mucous gland adenoma bronchus adenoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004080 MONDO:0002355 True glottis squamous cell carcinoma glottis carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0004080 MONDO:0005595 True glottis squamous cell carcinoma laryngeal squamous cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004081 MONDO:0002665 True extrahepatic bile duct clear cell adenocarcinoma extrahepatic bile duct adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004081 MONDO:0005004 True extrahepatic bile duct clear cell adenocarcinoma clear cell adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004082 MONDO:0003819 True childhood immature teratoma of ovary childhood teratoma of the ovary UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004082 MONDO:0018369 True childhood immature teratoma of ovary immature ovarian teratoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004082 MONDO:0018369 True childhood immature teratoma of ovary immature ovarian teratoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0004082 MONDO:0020577 True childhood immature teratoma of ovary childhood gonadal germ cell tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004085 MONDO:0003878 True choroid epithelioid cell melanoma malignant choroid melanoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004083 MONDO:0002656 True Borst-Jadassohn intraepidermal carcinoma skin carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004085 MONDO:0003878 True choroid epithelioid cell melanoma malignant choroid melanoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0004085 MONDO:0006200 True choroid epithelioid cell melanoma epithelioid cell uveal melanoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004086 MONDO:0003912 True ciliary body epithelioid cell melanoma malignant ciliary body melanoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004086 MONDO:0006200 True ciliary body epithelioid cell melanoma epithelioid cell uveal melanoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004086 MONDO:0006200 True ciliary body epithelioid cell melanoma epithelioid cell uveal melanoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0004087 MONDO:0003050 True basaloid large cell lung carcinoma lung large cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004087 MONDO:0006102 True basaloid large cell lung carcinoma basaloid carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0004088 MONDO:0003486 True cervical basaloid carcinoma basaloid squamous cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004088 MONDO:0006143 True cervical basaloid carcinoma cervical squamous cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004088 MONDO:0006143 True cervical basaloid carcinoma cervical squamous cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0004089 MONDO:0003486 True basaloid carcinoma of the penis basaloid squamous cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004089 MONDO:0020656 True basaloid carcinoma of the penis human papillomavirus-related penile squamous cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0004090 MONDO:0003486 True vulvar basaloid squamous cell carcinoma basaloid squamous cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004090 MONDO:0024609 True vulvar basaloid squamous cell carcinoma vulvar squamous cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004090 MONDO:0024609 True vulvar basaloid squamous cell carcinoma vulvar squamous cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0004091 MONDO:0002529 True skin basaloid carcinoma skin squamous cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004091 MONDO:0003486 True skin basaloid carcinoma basaloid squamous cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004091 MONDO:0005056 True skin basaloid carcinoma keratinizing squamous cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS @@ -2752,263 +3942,300 @@ MONDO:0004092 MONDO:0003486 True thymic basaloid carcinoma basaloid squamous cel MONDO:0004092 MONDO:0003493 True thymic basaloid carcinoma thymus squamous cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004093 MONDO:0003486 True esophageal basaloid carcinoma basaloid squamous cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004093 MONDO:0005580 True esophageal basaloid carcinoma esophageal squamous cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004094 MONDO:0002998 True multiple skull base meningioma skull base meningioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004096 MONDO:0002378 True spinal cord dermoid cyst dermoid cyst UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004094 MONDO:0002998 True multiple skull base meningioma skull base meningioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004095 MONDO:0005062 True B-cell neoplasm lymphoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004096 MONDO:0002378 True spinal cord dermoid cyst dermoid cyst UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0004096 MONDO:0002718 True spinal cord dermoid cyst central nervous system teratoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004096 MONDO:0021234 True spinal cord dermoid cyst spinal cord neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0004098 MONDO:0002852 True malignant melanocytic peripheral nerve sheath tumor of mediastinum mediastinum sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004098 MONDO:0003863 True malignant melanocytic peripheral nerve sheath tumor of mediastinum malignant melanocytic neoplasm of the peripheral nerve sheath UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004099 MONDO:0002379 True adult cystic teratoma cystic teratoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004099 MONDO:0002379 True adult cystic teratoma cystic teratoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0004099 MONDO:0003516 True adult cystic teratoma adult teratoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004100 MONDO:0005454 True lung mixed small cell and squamous cell carcinoma lung neuroendocrine neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004101 MONDO:0005075 True multicentric papillary thyroid carcinoma thyroid gland papillary carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004102 MONDO:0005075 True columnar cell variant thyroid gland papillary carcinoma thyroid gland papillary carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004103 MONDO:0005075 True tall cell variant thyroid gland papillary carcinoma thyroid gland papillary carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004104 MONDO:0004107 True splenic manifestation of hairy cell leukemia splenic manifestation of leukemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004100 MONDO:0005454 True lung mixed small cell and squamous cell carcinoma lung neuroendocrine neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004101 MONDO:0005075 True multicentric papillary thyroid carcinoma thyroid gland papillary carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004102 MONDO:0005075 True columnar cell variant thyroid gland papillary carcinoma thyroid gland papillary carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004103 MONDO:0005075 True tall cell variant thyroid gland papillary carcinoma thyroid gland papillary carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004104 MONDO:0004107 True splenic manifestation of hairy cell leukemia splenic manifestation of leukemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0004104 MONDO:0018935 True splenic manifestation of hairy cell leukemia hairy cell leukemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004105 MONDO:0006517 True childhood epithelioid sarcoma childhood malignant neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004105 MONDO:0017387 True childhood epithelioid sarcoma epithelioid sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004106 MONDO:0003402 True testicular yolk sac tumor, macrocystic pattern testicular yolk sac tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004105 MONDO:0017387 True childhood epithelioid sarcoma epithelioid sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004106 MONDO:0003402 True testicular yolk sac tumor, macrocystic pattern testicular yolk sac tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0004107 MONDO:0005059 True splenic manifestation of leukemia leukemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004107 MONDO:0005966 True splenic manifestation of leukemia spleen cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004108 MONDO:0002720 True diaphragma sellae meningioma sella turcica neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004108 MONDO:0002998 True diaphragma sellae meningioma skull base meningioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004109 MONDO:0004427 True epiglottis neoplasm supraglottis neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004110 MONDO:0004111 True refractory hairy cell leukemia refractory hematologic cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004110 MONDO:0018935 True refractory hairy cell leukemia hairy cell leukemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004107 MONDO:0005966 True splenic manifestation of leukemia spleen cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004108 MONDO:0002720 True diaphragma sellae meningioma sella turcica neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004108 MONDO:0002998 True diaphragma sellae meningioma skull base meningioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004109 MONDO:0004427 True epiglottis neoplasm supraglottis neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004110 MONDO:0004111 True refractory hairy cell leukemia refractory hematologic cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004110 MONDO:0018935 True refractory hairy cell leukemia hairy cell leukemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0004111 MONDO:0044881 True refractory hematologic cancer hematopoietic and lymphoid cell neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004112 MONDO:0006032 True radiation cystitis cystitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004112 MONDO:0006032 True radiation cystitis cystitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0004114 MONDO:0000402 True urinary bladder small cell neuroendocrine carcinoma small cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004114 MONDO:0004986 True urinary bladder small cell neuroendocrine carcinoma urinary bladder carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004114 MONDO:0004986 True urinary bladder small cell neuroendocrine carcinoma urinary bladder carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0004116 MONDO:0000402 True esophageal small cell neuroendocrine carcinoma small cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004116 MONDO:0019086 True esophageal small cell neuroendocrine carcinoma carcinoma of esophagus UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004116 MONDO:0019086 True esophageal small cell neuroendocrine carcinoma carcinoma of esophagus UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0004117 MONDO:0000402 True ampulla of vater small cell neuroendocrine carcinoma small cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004117 MONDO:0017590 True ampulla of vater small cell neuroendocrine carcinoma carcinoma of the ampulla of vater UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004118 MONDO:0006032 True cystitis cystica cystitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004117 MONDO:0017590 True ampulla of vater small cell neuroendocrine carcinoma carcinoma of the ampulla of vater UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004118 MONDO:0006032 True cystitis cystica cystitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0004120 MONDO:0000402 True Bartholin gland small cell carcinoma small cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004120 MONDO:0002829 True Bartholin gland small cell carcinoma bartholin gland carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004120 MONDO:0002829 True Bartholin gland small cell carcinoma bartholin gland carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0004120 MONDO:0056816 True Bartholin gland small cell carcinoma vulvar neuroendocrine carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0004122 MONDO:0000402 True thymus small cell carcinoma small cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004122 MONDO:0020516 True thymus small cell carcinoma thymic neuroendocrine carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004124 MONDO:0002854 True prostate stromal sarcoma prostate sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004124 MONDO:0002854 True prostate stromal sarcoma prostate sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0004124 MONDO:0044337 True prostate stromal sarcoma stromal sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0004125 MONDO:0003299 True rectum leiomyoma colorectal leiomyoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004125 MONDO:0021462 True rectum leiomyoma benign neoplasm of rectum UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004126 MONDO:0003240 True thyroiditis thyroid gland disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004127 MONDO:0005061 True lung occult adenocarcinoma lung adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004128 MONDO:0003050 True lung occult large cell carcinoma lung large cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004126 MONDO:0003240 True thyroiditis thyroid gland disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004127 MONDO:0005061 True lung occult adenocarcinoma lung adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004128 MONDO:0003050 True lung occult large cell carcinoma lung large cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0004129 MONDO:0007108 True cloacogenic carcinoma anal canal carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004130 MONDO:0003486 True anus basaloid carcinoma basaloid squamous cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004130 MONDO:0006082 True anus basaloid carcinoma anal squamous cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004131 MONDO:0006082 True anal verrucous carcinoma anal squamous cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004130 MONDO:0006082 True anus basaloid carcinoma anal squamous cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004131 MONDO:0006082 True anal verrucous carcinoma anal squamous cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0004132 MONDO:0006082 True anal canal squamous cell carcinoma anal squamous cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004132 MONDO:0007108 True anal canal squamous cell carcinoma anal canal carcinoma UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004134 MONDO:0002531 True benign dermal neurilemmoma skin neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004136 MONDO:0005183 True ovarian endometrioid cystadenoma ovarian cystadenoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004139 MONDO:0002280 True normocytic anemia anemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004141 MONDO:0005105 True melanomatosis melanoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004142 MONDO:0003960 True lung combined large cell neuroendocrine carcinoma pulmonary large cell neuroendocrine carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004132 MONDO:0007108 True anal canal squamous cell carcinoma anal canal carcinoma UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004133 MONDO:0006373 True pituitary gland mixed eosinophil-basophil adenoma pituitary gland adenoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004134 MONDO:0002531 True benign dermal neurilemmoma skin neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004136 MONDO:0005183 True ovarian endometrioid cystadenoma ovarian cystadenoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004139 MONDO:0002280 True normocytic anemia anemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004140 MONDO:0003514 True intermediate malignant teratoma malignant teratoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004141 MONDO:0005105 True melanomatosis melanoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004142 MONDO:0003960 True lung combined large cell neuroendocrine carcinoma pulmonary large cell neuroendocrine carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0004142 MONDO:0006167 True lung combined large cell neuroendocrine carcinoma combined lung carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004143 MONDO:0016642 True psammomatous meningioma meningioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004144 MONDO:0016642 True fibrous meningioma meningioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004145 MONDO:0016642 True meningothelial meningioma meningioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004146 MONDO:0016642 True transitional meningioma meningioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004147 MONDO:0006456 True noninvasive malignant thymoma thymoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004143 MONDO:0016642 True psammomatous meningioma meningioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004144 MONDO:0016642 True fibrous meningioma meningioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004145 MONDO:0016642 True meningothelial meningioma meningioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004146 MONDO:0016642 True transitional meningioma meningioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004147 MONDO:0006456 True noninvasive malignant thymoma thymoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0004148 MONDO:0002518 True gallbladder papillary neoplasm with an associated invasive carcinoma gallbladder papillary neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004148 MONDO:0006215 True gallbladder papillary neoplasm with an associated invasive carcinoma gallbladder adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004150 MONDO:0002056 True breast giant fibroadenoma breast fibroadenoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004152 MONDO:0003864 True chronic lymphocytic leukemia/small lymphocytic lymphoma with immunoglobulin heavy chain variable-region gene somatic hypermutation chronic lymphocytic leukemia/small lymphocytic lymphoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004153 MONDO:0003750 True childhood central nervous system embryonal carcinoma childhood central nervous system germ cell tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004149 MONDO:0006215 True gallbladder pleomorphic giant cell adenocarcinoma gallbladder adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004150 MONDO:0002056 True breast giant fibroadenoma breast fibroadenoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004151 MONDO:0003544 True spinal meninges cancer spinal cord cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004152 MONDO:0003864 True chronic lymphocytic leukemia/small lymphocytic lymphoma with immunoglobulin heavy chain variable-region gene somatic hypermutation chronic lymphocytic leukemia/small lymphocytic lymphoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004153 MONDO:0003750 True childhood central nervous system embryonal carcinoma childhood central nervous system germ cell tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0004153 MONDO:0004479 True childhood central nervous system embryonal carcinoma malignant childhood germ cell neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004153 MONDO:0018843 True childhood central nervous system embryonal carcinoma embryonal carcinoma of the central nervous system UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004155 MONDO:0003405 True adult central nervous system embryonal carcinoma adult central nervous system germ cell tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004155 MONDO:0003405 True adult central nervous system embryonal carcinoma adult central nervous system germ cell tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0004155 MONDO:0018843 True adult central nervous system embryonal carcinoma embryonal carcinoma of the central nervous system UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004160 MONDO:0006026 True female stress incontinence urinary bladder disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004156 MONDO:0002867 True pancreatic mucinous cystadenocarcinoma pancreatic cystadenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004158 MONDO:0004156 True pancreatic mucinous-cystic neoplasm with an associated invasive carcinoma pancreatic mucinous cystadenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004159 MONDO:0004156 True pancreatic non-invasive mucinous cystadenocarcinoma pancreatic mucinous cystadenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004160 MONDO:0006026 True female stress incontinence urinary bladder disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0004161 MONDO:0007886 True uterine corpus apoplectic leiomyoma uterine corpus leiomyoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004162 MONDO:0003296 True uterine corpus cellular leiomyoma cellular leiomyoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004162 MONDO:0007886 True uterine corpus cellular leiomyoma uterine corpus leiomyoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004163 MONDO:0003715 True bladder urachal urothelial carcinoma bladder urachal carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004163 MONDO:0003715 True bladder urachal urothelial carcinoma bladder urachal carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0004163 MONDO:0005611 True bladder urachal urothelial carcinoma bladder transitional cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004164 MONDO:0002493 True lymphoepithelioma-like acinar prostate adenocarcinoma prostatic acinar adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004165 MONDO:0003739 True selective IgD deficiency disease selective immunoglobulin deficiency disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004166 MONDO:0006206 True hereditary fallopian tube carcinoma fallopian tube carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004168 MONDO:0003669 True cribriform variant testicular seminoma testicular seminoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004174 MONDO:0005461 True secretory uterine corpus endometrioid adenocarcinoma endometrium adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004165 MONDO:0003739 True selective IgD deficiency disease selective immunoglobulin deficiency disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004166 MONDO:0006206 True hereditary fallopian tube carcinoma fallopian tube carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004168 MONDO:0003669 True cribriform variant testicular seminoma testicular seminoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004169 MONDO:0002263 True premenstrual tension female reproductive system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004170 MONDO:0001269 True nodular episcleritis scleral disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004172 MONDO:0002879 True uterine corpus adenocarcinofibroma uterine body mixed cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004173 MONDO:0001869 True adenocarcinoma of skene gland origin paraurethral gland cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004174 MONDO:0005461 True secretory uterine corpus endometrioid adenocarcinoma endometrium adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0004174 MONDO:0006192 True secretory uterine corpus endometrioid adenocarcinoma endometrial endometrioid adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004176 MONDO:0002621 True childhood extraosseous osteosarcoma extraosseous osteosarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004175 MONDO:0005461 True mucin-rich endometrial endometrioid adenocarcinoma endometrium adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004176 MONDO:0002621 True childhood extraosseous osteosarcoma extraosseous osteosarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0004176 MONDO:0002623 True childhood extraosseous osteosarcoma pediatric osteosarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004177 MONDO:0004180 True benign urethral neoplasm benign urinary system neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004177 MONDO:0004180 True benign urethral neoplasm benign urinary system neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0004177 MONDO:0021239 True benign urethral neoplasm urethra neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004178 MONDO:0003402 True testicular yolk sac tumor, endodermal sinus pattern testicular yolk sac tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004180 MONDO:0005165 True benign urinary system neoplasm benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004178 MONDO:0003402 True testicular yolk sac tumor, endodermal sinus pattern testicular yolk sac tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004180 MONDO:0005165 True benign urinary system neoplasm benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0004180 MONDO:0021066 True benign urinary system neoplasm urinary system neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004181 MONDO:0003725 True breast adenomyoepithelial adenosis breast adenosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004183 MONDO:0005244 True axonal neuropathy peripheral neuropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004184 MONDO:0002118 True urethral disorder urinary system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004181 MONDO:0003725 True breast adenomyoepithelial adenosis breast adenosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004182 MONDO:0004986 True stage IVb bladder cancer urinary bladder carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004183 MONDO:0005244 True axonal neuropathy peripheral neuropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004184 MONDO:0002118 True urethral disorder urinary system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0004185 MONDO:0003464 True ovarian serous cystadenofibroma cystadenofibroma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004185 MONDO:0006340 True ovarian serous cystadenofibroma ovarian serous adenofibroma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004186 MONDO:0004187 True cranial nodular fasciitis nodular fasciitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004185 MONDO:0006340 True ovarian serous cystadenofibroma ovarian serous adenofibroma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004186 MONDO:0004187 True cranial nodular fasciitis nodular fasciitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004187 MONDO:0004830 True nodular fasciitis fasciitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0004187 MONDO:0006209 True nodular fasciitis fibroblastic neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0004187 MONDO:0006424 True nodular fasciitis soft tissue neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0004187 MONDO:0019296 True nodular fasciitis subcutaneous tissue disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0004188 MONDO:0003744 True iris spindle cell melanoma spindle cell intraocular melanoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004188 MONDO:0004064 True iris spindle cell melanoma iris melanoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004190 MONDO:0004191 True nephrogenic adenoma of urinary bladder nephrogenic adenoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004192 MONDO:0006295 True urethra cancer malignant urinary system neoplasm SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004188 MONDO:0004064 True iris spindle cell melanoma iris melanoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004189 MONDO:0003749 True esophageal tuberculosis esophageal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004189 MONDO:0005768 True esophageal tuberculosis gastrointestinal tuberculosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004190 MONDO:0000384 True nephrogenic adenoma of urinary bladder bladder benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004191 MONDO:0002513 True nephrogenic adenoma kidney benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004192 MONDO:0006295 True urethra cancer malignant urinary system neoplasm SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0004192 MONDO:0021239 True urethra cancer urethra neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0004193 MONDO:0003481 True pediatric ovarian dysgerminoma dysgerminoma of ovary UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004193 MONDO:0003760 True pediatric ovarian dysgerminoma pediatric ovarian germ cell tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004193 MONDO:0003760 True pediatric ovarian dysgerminoma pediatric ovarian germ cell tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0004193 MONDO:0004479 True pediatric ovarian dysgerminoma malignant childhood germ cell neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004193 MONDO:0020577 True pediatric ovarian dysgerminoma childhood gonadal germ cell tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004194 MONDO:0005558 True ovarian stromal hyperthecosis ovarian disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004195 MONDO:0003393 True thymic dysplasia thymus gland disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004194 MONDO:0005558 True ovarian stromal hyperthecosis ovarian disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004195 MONDO:0003393 True thymic dysplasia thymus gland disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0004196 MONDO:0006406 True rectal sarcomatoid carcinoma sarcomatoid carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004196 MONDO:0044937 True rectal sarcomatoid carcinoma rectal carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004197 MONDO:0004192 True male urethral cancer urethra cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004198 MONDO:0003402 True testicular yolk sac tumor, solid pattern testicular yolk sac tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004197 MONDO:0004192 True male urethral cancer urethra cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004198 MONDO:0003402 True testicular yolk sac tumor, solid pattern testicular yolk sac tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0004199 MONDO:0005056 True vulvar keratinizing squamous cell carcinoma keratinizing squamous cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004199 MONDO:0024609 True vulvar keratinizing squamous cell carcinoma vulvar squamous cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004200 MONDO:0004986 True superficial urinary bladder carcinoma urinary bladder carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004201 MONDO:0003381 True pituitary hypoplasia pituitary gland disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004203 MONDO:0004192 True female urethral cancer urethra cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004204 MONDO:0001825 True squamous cell skin papilloma squamous papilloma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004204 MONDO:0002536 True squamous cell skin papilloma skin papilloma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004199 MONDO:0024609 True vulvar keratinizing squamous cell carcinoma vulvar squamous cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004200 MONDO:0004986 True superficial urinary bladder carcinoma urinary bladder carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004201 MONDO:0003381 True pituitary hypoplasia pituitary gland disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004202 MONDO:0003606 True adrenal medulla carcinoma adrenal medulla cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004203 MONDO:0004192 True female urethral cancer urethra cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004204 MONDO:0002536 True squamous cell skin papilloma skin papilloma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0004205 MONDO:0006407 True lymphohistiocytoid mesothelioma sarcomatoid mesothelioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004206 MONDO:0005058 True pulmonary vein leiomyosarcoma leiomyosarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004207 MONDO:0005058 True pulmonary artery leiomyosarcoma leiomyosarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004208 MONDO:0005058 True superior vena cava leiomyosarcoma leiomyosarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004209 MONDO:0002731 True cerebral primitive neuroectodermal tumor cerebral hemisphere cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004206 MONDO:0004634 True pulmonary vein leiomyosarcoma vein disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004206 MONDO:0005058 True pulmonary vein leiomyosarcoma leiomyosarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004207 MONDO:0000473 True pulmonary artery leiomyosarcoma arterial disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004207 MONDO:0005058 True pulmonary artery leiomyosarcoma leiomyosarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004208 MONDO:0005058 True superior vena cava leiomyosarcoma leiomyosarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004209 MONDO:0002731 True cerebral primitive neuroectodermal tumor cerebral hemisphere cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0004209 MONDO:0003145 True cerebral primitive neuroectodermal tumor supratentorial primitive neuroectodermal tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004210 MONDO:0004211 True colonic L-cell glucagon-like peptide producing tumor L-cell glucagon-like peptide-producing neuroendocrine tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004210 MONDO:0015067 True colonic L-cell glucagon-like peptide producing tumor neuroendocrine tumor of the colon, well differentiated, low or intermediate grade tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0004211 MONDO:0000386 True L-cell glucagon-like peptide-producing neuroendocrine tumor digestive system neuroendocrine tumor, grade 1/2 UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004213 MONDO:0024609 True vulvar non-keratinizing squamous cell carcinoma vulvar squamous cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004214 MONDO:0003463 True ovarian endometrioid cystadenofibroma ovarian endometrioid adenofibroma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004212 MONDO:0024609 True vulvar keratoacanthoma-like carcinoma vulvar squamous cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004213 MONDO:0024609 True vulvar non-keratinizing squamous cell carcinoma vulvar squamous cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004214 MONDO:0003463 True ovarian endometrioid cystadenofibroma ovarian endometrioid adenofibroma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0004214 MONDO:0003464 True ovarian endometrioid cystadenofibroma cystadenofibroma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004216 MONDO:0002073 True pineal region germinoma malignant pineal area germ cell neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004215 MONDO:0005119 True cutaneous anthrax anthrax infection UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004216 MONDO:0002073 True pineal region germinoma malignant pineal area germ cell neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0004216 MONDO:0002214 True pineal region germinoma brain germinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004217 MONDO:0002214 True childhood brain germinoma brain germinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004217 MONDO:0002214 True childhood brain germinoma brain germinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0004217 MONDO:0004452 True childhood brain germinoma childhood central nervous system germinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004218 MONDO:0003750 True childhood germ cell brain tumor childhood central nervous system germ cell tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004219 MONDO:0003402 True polyvesicular vitelline pattern testicular yolk sac tumor testicular yolk sac tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004220 MONDO:0005461 True endometrial endometrioid adenocarcinoma with spindled epithelial cells endometrium adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004218 MONDO:0003750 True childhood germ cell brain tumor childhood central nervous system germ cell tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004219 MONDO:0003402 True polyvesicular vitelline pattern testicular yolk sac tumor testicular yolk sac tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004220 MONDO:0005461 True endometrial endometrioid adenocarcinoma with spindled epithelial cells endometrium adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0004220 MONDO:0006192 True endometrial endometrioid adenocarcinoma with spindled epithelial cells endometrial endometrioid adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004221 MONDO:0006359 True uterine corpus perivascular epithelioid cell tumor neoplasm with perivascular epithelioid cell differentiation UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004222 MONDO:0002702 True ovarian clear cell cystadenocarcinoma ovarian cystadenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004221 MONDO:0006359 True uterine corpus perivascular epithelioid cell tumor neoplasm with perivascular epithelioid cell differentiation UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004222 MONDO:0002702 True ovarian clear cell cystadenocarcinoma ovarian cystadenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0004222 MONDO:0006045 True ovarian clear cell cystadenocarcinoma ovarian clear cell adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004223 MONDO:0005079 True polyp of middle ear polyp UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0004223 MONDO:0021366 True polyp of middle ear neoplasm of middle ear UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004224 MONDO:0003335 True chronic metabolic polyneuropathy chronic polyneuropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004224 MONDO:0003335 True chronic metabolic polyneuropathy chronic polyneuropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0004227 MONDO:0004230 True epididymal adenomatoid tumor adenomatoid tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004227 MONDO:0021473 True epididymal adenomatoid tumor benign neoplasm of epididymis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004229 MONDO:0006056 True acantholytic variant squamous cell breast carcinoma squamous cell breast carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004230 MONDO:0005065 True adenomatoid tumor mesothelioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004231 MONDO:0006056 True spindle cell variant squamous cell breast carcinoma squamous cell breast carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004229 MONDO:0006056 True acantholytic variant squamous cell breast carcinoma squamous cell breast carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004231 MONDO:0006056 True spindle cell variant squamous cell breast carcinoma squamous cell breast carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0004231 MONDO:0021663 True spindle cell variant squamous cell breast carcinoma sarcomatoid squamous cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0004232 MONDO:0005056 True large cell keratinizing variant squamous cell breast carcinoma keratinizing squamous cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004232 MONDO:0006056 True large cell keratinizing variant squamous cell breast carcinoma squamous cell breast carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004232 MONDO:0006056 True large cell keratinizing variant squamous cell breast carcinoma squamous cell breast carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0004233 MONDO:0006517 True childhood pleomorphic rhabdomyosarcoma childhood malignant neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004233 MONDO:0017386 True childhood pleomorphic rhabdomyosarcoma pleomorphic rhabdomyosarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004233 MONDO:0017386 True childhood pleomorphic rhabdomyosarcoma pleomorphic rhabdomyosarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0004234 MONDO:0005169 True chronic lymphoproliferative disorder of NK-cells neoplasm of mature T-cells or NK-cells UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004235 MONDO:0005020 True diverticulitis intestinal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004235 MONDO:0005020 True diverticulitis intestinal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0004236 MONDO:0015063 True duodenal somatostatinoma duodenal neuroendocrine tumor, well differentiated, low or intermediate grade UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004237 MONDO:0003050 True large cell carcinoma with rhabdoid phenotype lung large cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004238 MONDO:0016642 True petrous apex meningioma meningioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004237 MONDO:0003050 True large cell carcinoma with rhabdoid phenotype lung large cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004238 MONDO:0016642 True petrous apex meningioma meningioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0004239 MONDO:0005056 True cervical keratinizing squamous cell carcinoma keratinizing squamous cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004239 MONDO:0006143 True cervical keratinizing squamous cell carcinoma cervical squamous cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004240 MONDO:0004192 True posterior urethra cancer urethra cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004241 MONDO:0018381 True Osgood-Schlatter disease osteochondrosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004243 MONDO:0004244 True vulvar proximal-type epithelioid sarcoma proximal-type epithelioid sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004243 MONDO:0005214 True vulvar proximal-type epithelioid sarcoma vulva sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004244 MONDO:0017387 True proximal-type epithelioid sarcoma epithelioid sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004247 MONDO:0004335 True peptic ulcer disease digestive system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004239 MONDO:0006143 True cervical keratinizing squamous cell carcinoma cervical squamous cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004240 MONDO:0004192 True posterior urethra cancer urethra cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004241 MONDO:0002614 True Osgood-Schlatter disease bone inflammation disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004241 MONDO:0018381 True Osgood-Schlatter disease osteochondrosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004242 MONDO:0004247 True active peptic ulcer disease peptic ulcer disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004243 MONDO:0004244 True vulvar proximal-type epithelioid sarcoma proximal-type epithelioid sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004243 MONDO:0005214 True vulvar proximal-type epithelioid sarcoma vulva sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004244 MONDO:0017387 True proximal-type epithelioid sarcoma epithelioid sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004245 MONDO:0005499 True ependymal tumor of brain brain glioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004247 MONDO:0004335 True peptic ulcer disease digestive system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0004248 MONDO:0002915 True pediatric infratentorial ependymoma childhood infratentorial neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004249 MONDO:0003478 True pediatric supratentorial ependymoma childhood ependymoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004250 MONDO:0002533 True extrahepatic bile duct papillary adenoma papillary adenoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004250 MONDO:0003445 True extrahepatic bile duct papillary adenoma extrahepatic bile duct adenoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004251 MONDO:0021118 True small intestine neoplasm intestinal neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004250 MONDO:0003445 True extrahepatic bile duct papillary adenoma extrahepatic bile duct adenoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004251 MONDO:0021118 True small intestine neoplasm intestinal neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0004252 MONDO:0002995 True small intestinal L-cell glucagon-like peptide producing tumor small intestine neuroendocrine tumor, well differentiated, low or intermediate grade UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0004252 MONDO:0004211 True small intestinal L-cell glucagon-like peptide producing tumor L-cell glucagon-like peptide-producing neuroendocrine tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004253 MONDO:0021099 True intraductal breast papillomatosis intraductal papillomatosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0004255 MONDO:0005626 True Wolffian adnexal tumor epithelial neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004256 MONDO:0001279 True lumbar spinal canal and spinal cord meningioma intraspinal meningioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004257 MONDO:0003750 True childhood central nervous system mixed germ cell tumor childhood central nervous system germ cell tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004256 MONDO:0001279 True lumbar spinal canal and spinal cord meningioma intraspinal meningioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004257 MONDO:0003750 True childhood central nervous system mixed germ cell tumor childhood central nervous system germ cell tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0004257 MONDO:0004479 True childhood central nervous system mixed germ cell tumor malignant childhood germ cell neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004257 MONDO:0016742 True childhood central nervous system mixed germ cell tumor mixed germ cell tumor of central nervous system UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0004258 MONDO:0040674 True female orgasmic disorder orgasm disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004261 MONDO:0004262 True periductal breast myoepitheliosis breast myoepitheliosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004262 MONDO:0002483 True breast myoepitheliosis breast myoepithelial tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004263 MONDO:0002915 True pediatric infratentorial ependymoblastoma childhood infratentorial neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004263 MONDO:0003107 True pediatric infratentorial ependymoblastoma infratentorial cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004263 MONDO:0016715 True pediatric infratentorial ependymoblastoma ependymoblastoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004265 MONDO:0000918 True acute endometritis endometritis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004266 MONDO:0002652 True anal gland adenocarcinoma anus adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004259 MONDO:0005131 True endocervical carcinoma cervical carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004260 MONDO:0004247 True peptic ulcer perforation peptic ulcer disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004261 MONDO:0004262 True periductal breast myoepitheliosis breast myoepitheliosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004262 MONDO:0002483 True breast myoepitheliosis breast myoepithelial tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004263 MONDO:0002915 True pediatric infratentorial ependymoblastoma childhood infratentorial neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004263 MONDO:0003107 True pediatric infratentorial ependymoblastoma infratentorial cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004263 MONDO:0016715 True pediatric infratentorial ependymoblastoma ependymoblastoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004264 MONDO:0004265 True acute gonococcal endometritis acute endometritis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004265 MONDO:0000918 True acute endometritis endometritis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004266 MONDO:0002652 True anal gland adenocarcinoma anus adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0004267 MONDO:0021098 True squamous papillomatosis papillomatosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004270 MONDO:0002058 True breast ductal adenoma breast adenoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004271 MONDO:0002058 True pregnancy adenoma breast adenoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004273 MONDO:0002058 True breast apocrine adenoma breast adenoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004274 MONDO:0006043 True mixed epithelial/mesenchymal metaplastic breast carcinoma metaplastic breast carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004275 MONDO:0002629 True osteosarcoma arising in bone Paget disease bone osteosarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004269 MONDO:0003208 True breast cystic hypersecretory carcinoma breast secretory carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004270 MONDO:0002058 True breast ductal adenoma breast adenoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004271 MONDO:0002058 True pregnancy adenoma breast adenoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004272 MONDO:0006002 True urinary bladder tuberculosis urogenital tuberculosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004272 MONDO:0006026 True urinary bladder tuberculosis urinary bladder disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004273 MONDO:0002058 True breast apocrine adenoma breast adenoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004274 MONDO:0006043 True mixed epithelial/mesenchymal metaplastic breast carcinoma metaplastic breast carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004275 MONDO:0002629 True osteosarcoma arising in bone Paget disease bone osteosarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0004276 MONDO:0002804 True ceruminoma apocrine adenoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004277 MONDO:0000314 True gonorrhea primary bacterial infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0004278 MONDO:0002837 True infiltrating bladder urothelial carcinoma sarcomatoid variant sarcomatoid transitional cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004278 MONDO:0003890 True infiltrating bladder urothelial carcinoma sarcomatoid variant infiltrating bladder urothelial carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004279 MONDO:0002316 True glossopharyngeal motor neuropathy motor peripheral neuropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004278 MONDO:0003890 True infiltrating bladder urothelial carcinoma sarcomatoid variant infiltrating bladder urothelial carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004279 MONDO:0002639 True glossopharyngeal motor neuropathy glossopharyngeal nerve disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004280 MONDO:0004004 True asymmetric motor neuropathy motor nerve neuritis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0004281 MONDO:0003861 True vulvar eccrine porocarcinoma vulvar eccrine adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004281 MONDO:0006189 True vulvar eccrine porocarcinoma eccrine porocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004283 MONDO:0006245 True vulvar clear cell hidradenocarcinoma hidradenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0004283 MONDO:0024336 True vulvar clear cell hidradenocarcinoma vulvar adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004285 MONDO:0005192 True pancreatic intraductal papillary-mucinous carcinoma exocrine pancreatic carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004286 MONDO:0002116 True pancreatic intraductal papillary-mucinous neoplasm malignant exocrine pancreas neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0004287 MONDO:0005184 True pancreatic foamy gland adenocarcinoma pancreatic ductal adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004288 MONDO:0004953 True scirrhous breast carcinoma invasive ductal breast carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004289 MONDO:0002766 True glottis verrucous carcinoma larynx verrucous carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004289 MONDO:0004080 True glottis verrucous carcinoma glottis squamous cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004289 MONDO:0004080 True glottis verrucous carcinoma glottis squamous cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0004290 MONDO:0002766 True subglottis verrucous carcinoma larynx verrucous carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004290 MONDO:0004291 True subglottis verrucous carcinoma subglottis squamous cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004291 MONDO:0004358 True subglottis squamous cell carcinoma subglottis carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004290 MONDO:0004291 True subglottis verrucous carcinoma subglottis squamous cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004291 MONDO:0004358 True subglottis squamous cell carcinoma subglottis carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0004291 MONDO:0005595 True subglottis squamous cell carcinoma laryngeal squamous cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004292 MONDO:0002766 True supraglottis verrucous carcinoma larynx verrucous carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004292 MONDO:0004293 True supraglottis verrucous carcinoma supraglottis squamous cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004293 MONDO:0004357 True supraglottis squamous cell carcinoma carcinoma of supraglottis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004292 MONDO:0004293 True supraglottis verrucous carcinoma supraglottis squamous cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004293 MONDO:0004357 True supraglottis squamous cell carcinoma carcinoma of supraglottis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0004293 MONDO:0005595 True supraglottis squamous cell carcinoma laryngeal squamous cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004294 MONDO:0003507 True gestational ovarian choriocarcinoma choriocarcinoma of ovary UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004294 MONDO:0003507 True gestational ovarian choriocarcinoma choriocarcinoma of ovary UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0004294 MONDO:0020550 True gestational ovarian choriocarcinoma gestational choriocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004295 MONDO:0005138 True asbestos-related lung carcinoma lung carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004295 MONDO:0005138 True asbestos-related lung carcinoma lung carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0004296 MONDO:0003572 True cervical lymphoepithelioma-like carcinoma nasopharyngeal type undifferentiated carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004296 MONDO:0006143 True cervical lymphoepithelioma-like carcinoma cervical squamous cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004296 MONDO:0006143 True cervical lymphoepithelioma-like carcinoma cervical squamous cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0004297 MONDO:0003572 True lymphoepithelioma-like thymic carcinoma nasopharyngeal type undifferentiated carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004297 MONDO:0006451 True lymphoepithelioma-like thymic carcinoma thymic carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004298 MONDO:0004335 True stomach disorder digestive system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004297 MONDO:0006451 True lymphoepithelioma-like thymic carcinoma thymic carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004298 MONDO:0004335 True stomach disorder digestive system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0004299 MONDO:0003572 True infiltrating bladder lymphoepithelioma-like carcinoma nasopharyngeal type undifferentiated carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004299 MONDO:0003890 True infiltrating bladder lymphoepithelioma-like carcinoma infiltrating bladder urothelial carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004301 MONDO:0002631 True fibrosarcomatous osteosarcoma conventional osteosarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004302 MONDO:0006890 True chief cell adenoma parathyroid gland adenoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004299 MONDO:0003890 True infiltrating bladder lymphoepithelioma-like carcinoma infiltrating bladder urothelial carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004301 MONDO:0002631 True fibrosarcomatous osteosarcoma conventional osteosarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004302 MONDO:0006890 True chief cell adenoma parathyroid gland adenoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0004303 MONDO:0003426 True parathyroid gland clear cell adenoma clear cell adenoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004303 MONDO:0006890 True parathyroid gland clear cell adenoma parathyroid gland adenoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004303 MONDO:0006890 True parathyroid gland clear cell adenoma parathyroid gland adenoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0004304 MONDO:0003421 True mixed cell type adenoma of parathyroid mixed cell adenoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004304 MONDO:0006890 True mixed cell type adenoma of parathyroid parathyroid gland adenoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004304 MONDO:0006890 True mixed cell type adenoma of parathyroid parathyroid gland adenoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0004305 MONDO:0003424 True parathyroid oncocytic adenoma oncocytic adenoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004305 MONDO:0006890 True parathyroid oncocytic adenoma parathyroid gland adenoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004305 MONDO:0006890 True parathyroid oncocytic adenoma parathyroid gland adenoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0004306 MONDO:0002623 True childhood intracortical osteosarcoma pediatric osteosarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004306 MONDO:0002631 True childhood intracortical osteosarcoma conventional osteosarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004307 MONDO:0004308 True sarcomatosis of the meninges meningeal sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004306 MONDO:0002631 True childhood intracortical osteosarcoma conventional osteosarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004307 MONDO:0004308 True sarcomatosis of the meninges meningeal sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0004307 MONDO:0004309 True sarcomatosis of the meninges sarcomatosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004308 MONDO:0002217 True meningeal sarcoma central nervous system sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004308 MONDO:0021322 True meningeal sarcoma malignant tumor of meninges UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004309 MONDO:0005089 True sarcomatosis sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004310 MONDO:0016715 True adult embryonal tumor with multilayered rosettes, c19mc-altered ependymoblastoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004309 MONDO:0005089 True sarcomatosis sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004310 MONDO:0016715 True adult embryonal tumor with multilayered rosettes, c19mc-altered ependymoblastoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004311 MONDO:0005836 True carcinoma of Cowper glands male reproductive organ cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0004312 MONDO:0002998 True suprasellar meningioma skull base meningioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004313 MONDO:0016642 True gasserian ganglion meningioma meningioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004313 MONDO:0016642 True gasserian ganglion meningioma meningioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0004314 MONDO:0002291 True malignant cutaneous granular cell skin tumor cutaneous granular cell tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004314 MONDO:0003252 True malignant cutaneous granular cell skin tumor granular cell cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004314 MONDO:0003363 True malignant cutaneous granular cell skin tumor malignant dermis tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004315 MONDO:0003210 True cholangiolocellular carcinoma intrahepatic cholangiocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004316 MONDO:0002529 True acantholytic squamous cell skin carcinoma skin squamous cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004314 MONDO:0003363 True malignant cutaneous granular cell skin tumor malignant dermis tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004315 MONDO:0003210 True cholangiolocellular carcinoma intrahepatic cholangiocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004316 MONDO:0002529 True acantholytic squamous cell skin carcinoma skin squamous cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0004316 MONDO:0005056 True acantholytic squamous cell skin carcinoma keratinizing squamous cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004317 MONDO:0001279 True multiple spinal canal and spinal cord meningioma intraspinal meningioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004318 MONDO:0003795 True pulmonary type ovarian small cell carcinoma ovarian small cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004319 MONDO:0003795 True hypercalcemic type ovarian small cell carcinoma ovarian small cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004320 MONDO:0002503 True adult infiltrating astrocytic neoplasm adult astrocytic tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004321 MONDO:0005461 True endometrial mixed adenocarcinoma endometrium adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004322 MONDO:0003408 True non-gestational ovarian choriocarcinoma ovarian primitive germ cell tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004322 MONDO:0003507 True non-gestational ovarian choriocarcinoma choriocarcinoma of ovary UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004317 MONDO:0001279 True multiple spinal canal and spinal cord meningioma intraspinal meningioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004318 MONDO:0003795 True pulmonary type ovarian small cell carcinoma ovarian small cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004319 MONDO:0003795 True hypercalcemic type ovarian small cell carcinoma ovarian small cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004320 MONDO:0002503 True adult infiltrating astrocytic neoplasm adult astrocytic tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004321 MONDO:0005461 True endometrial mixed adenocarcinoma endometrium adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004322 MONDO:0003408 True non-gestational ovarian choriocarcinoma ovarian primitive germ cell tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004322 MONDO:0003507 True non-gestational ovarian choriocarcinoma choriocarcinoma of ovary UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004323 MONDO:0005336 True muscular atrophy myopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0004324 MONDO:0003125 True testicular fibroma testicular sex cord-stromal neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004324 MONDO:0005167 True testicular fibroma fibroma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004325 MONDO:0003125 True testicular thecoma testicular sex cord-stromal neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS @@ -3017,1043 +4244,1419 @@ MONDO:0004326 MONDO:0002537 True sphenoid sinus inverted papilloma inverted papi MONDO:0004326 MONDO:0004327 True sphenoid sinus inverted papilloma sphenoid sinus Schneiderian papilloma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004327 MONDO:0006353 True sphenoid sinus Schneiderian papilloma paranasal sinus Schneiderian papilloma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0004327 MONDO:0021477 True sphenoid sinus Schneiderian papilloma benign neoplasm of sphenoidal sinus UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004328 MONDO:0001748 True maxillary sinus adenocarcinoma maxillary sinus carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004328 MONDO:0004970 True maxillary sinus adenocarcinoma adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004329 MONDO:0004286 True pancreatic intraductal papillary-mucinous neoplasm with high grade dysplasia pancreatic intraductal papillary-mucinous neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004330 MONDO:0003762 True leptomeningeal sarcoma malignant leptomeningeal tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004328 MONDO:0001748 True maxillary sinus adenocarcinoma maxillary sinus carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004328 MONDO:0004970 True maxillary sinus adenocarcinoma adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004329 MONDO:0004285 True pancreatic intraductal papillary-mucinous neoplasm with high grade dysplasia pancreatic intraductal papillary-mucinous carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004329 MONDO:0004286 True pancreatic intraductal papillary-mucinous neoplasm with high grade dysplasia pancreatic intraductal papillary-mucinous neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004330 MONDO:0003762 True leptomeningeal sarcoma malignant leptomeningeal tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0004330 MONDO:0004308 True leptomeningeal sarcoma meningeal sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004331 MONDO:0002751 True bladder urachal adenocarcinoma bladder adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004331 MONDO:0001378 True bladder urachal adenocarcinoma urachus cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004331 MONDO:0002751 True bladder urachal adenocarcinoma bladder adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0004331 MONDO:0003715 True bladder urachal adenocarcinoma bladder urachal carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004332 MONDO:0003639 True lung hilum cancer lung hilum neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004332 MONDO:0008903 True lung hilum cancer lung cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004333 MONDO:0023206 True pancreatic ACTH-producing neuroendocrine tumor functional pancreatic neuroendocrine tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004334 MONDO:0019954 True non-functional pancreatic neuroendocrine tumor pancreatic neuroendocrine tumor UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0004332 MONDO:0008903 True lung hilum cancer lung cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004334 MONDO:0019954 True non-functional pancreatic neuroendocrine tumor pancreatic neuroendocrine tumor UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0004334 MONDO:0021119 True non-functional pancreatic neuroendocrine tumor non-functioning endocrine neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004336 MONDO:0002169 True rectal signet ring cell adenocarcinoma rectum adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004336 MONDO:0002169 True rectal signet ring cell adenocarcinoma rectum adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0004336 MONDO:0044336 True rectal signet ring cell adenocarcinoma colorectal signet ring cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0004337 MONDO:0002651 True perianal skin Paget disease anal Paget disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004337 MONDO:0002941 True perianal skin Paget disease anal margin carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004339 MONDO:0002720 True tuberculum sellae meningioma sella turcica neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004337 MONDO:0002941 True perianal skin Paget disease anal margin carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004338 MONDO:0003072 True retinal cell cancer retinal cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004339 MONDO:0002720 True tuberculum sellae meningioma sella turcica neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004340 MONDO:0005184 True mixed ductal-endocrine carcinoma of pancreas pancreatic ductal adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0004341 MONDO:0004957 True colloid carcinoma of the pancreas mucinous adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004341 MONDO:0005184 True colloid carcinoma of the pancreas pancreatic ductal adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004343 MONDO:0002867 True pancreatic acinar cell cystadenocarcinoma pancreatic cystadenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004343 MONDO:0006346 True pancreatic acinar cell cystadenocarcinoma pancreatic acinar cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004344 MONDO:0009330 True childhood malignant hemangiopericytoma hemangiopericytoma, malignant UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0004345 MONDO:0006517 True childhood malignant schwannoma childhood malignant neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004345 MONDO:0017827 True childhood malignant schwannoma malignant peripheral nerve sheath tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004346 MONDO:0003210 True signet ring cell intrahepatic cholangiocarcinoma intrahepatic cholangiocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004349 MONDO:0003072 True retina lymphoma retinal cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004345 MONDO:0017827 True childhood malignant schwannoma malignant peripheral nerve sheath tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004346 MONDO:0003210 True signet ring cell intrahepatic cholangiocarcinoma intrahepatic cholangiocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004348 MONDO:0002311 True retinal telangiectasia retinal vascular disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004349 MONDO:0003072 True retina lymphoma retinal cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0004349 MONDO:0004034 True retina lymphoma eye lymphoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004350 MONDO:0003078 True pediatric extraocular retinoblastoma extraocular retinoblastoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004350 MONDO:0003078 True pediatric extraocular retinoblastoma extraocular retinoblastoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0004350 MONDO:0006517 True pediatric extraocular retinoblastoma childhood malignant neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004351 MONDO:0004034 True intraocular lymphoma eye lymphoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004351 MONDO:0017207 True intraocular lymphoma primary organ-specific lymphoma UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004353 MONDO:0003455 True extrahepatic biliary papillomatosis bile duct papillary neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004354 MONDO:0004355 True neonatal leukemia childhood leukemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004355 MONDO:0005059 True childhood leukemia leukemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004351 MONDO:0004034 True intraocular lymphoma eye lymphoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004351 MONDO:0017207 True intraocular lymphoma primary organ-specific lymphoma UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0004352 MONDO:0004245 True adult brain ependymoma ependymal tumor of brain UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004353 MONDO:0003455 True extrahepatic biliary papillomatosis bile duct papillary neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004354 MONDO:0004355 True neonatal leukemia childhood leukemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004355 MONDO:0005059 True childhood leukemia leukemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0004355 MONDO:0006517 True childhood leukemia childhood malignant neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0004356 MONDO:0002730 True childhood multilocular cystic kidney neoplasm childhood kidney neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004357 MONDO:0001724 True carcinoma of supraglottis supraglottis cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004357 MONDO:0001724 True carcinoma of supraglottis supraglottis cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0004357 MONDO:0002358 True carcinoma of supraglottis laryngeal carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004358 MONDO:0001293 True subglottis carcinoma subglottis cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004358 MONDO:0001293 True subglottis carcinoma subglottis cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0004358 MONDO:0002358 True subglottis carcinoma laryngeal carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004360 MONDO:0002490 True breast extraskeletal osteosarcoma breast sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004359 MONDO:0005485 True delusional disorder psychotic disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004360 MONDO:0002490 True breast extraskeletal osteosarcoma breast sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0004360 MONDO:0002621 True breast extraskeletal osteosarcoma extraosseous osteosarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004361 MONDO:0003473 True adult spinal cord ependymoma spinal cord ependymoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004361 MONDO:0003473 True adult spinal cord ependymoma spinal cord ependymoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004363 MONDO:0002542 True adult spinal cord glioblastoma spinal cord glioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0004363 MONDO:0020690 True adult spinal cord glioblastoma adult glioblastoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0004364 MONDO:0003878 True choroid necrotic melanoma malignant choroid melanoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004364 MONDO:0004365 True choroid necrotic melanoma necrotic uveal melanoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004365 MONDO:0006486 True necrotic uveal melanoma uveal melanoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004366 MONDO:0003268 True mixed astrocytoma-ependymoma-oligodendroglioma mixed glioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004367 MONDO:0002998 True petroclival meningioma skull base meningioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004368 MONDO:0002998 True sphenoorbital meningioma skull base meningioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004370 MONDO:0002998 True sphenocavernous meningioma skull base meningioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004364 MONDO:0004365 True choroid necrotic melanoma necrotic uveal melanoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004365 MONDO:0006486 True necrotic uveal melanoma uveal melanoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004366 MONDO:0003268 True mixed astrocytoma-ependymoma-oligodendroglioma mixed glioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004367 MONDO:0002998 True petroclival meningioma skull base meningioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004368 MONDO:0002998 True sphenoorbital meningioma skull base meningioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004369 MONDO:0005240 True renal infectious disease kidney disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004370 MONDO:0002998 True sphenocavernous meningioma skull base meningioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0004371 MONDO:0002918 True spinal multifocal clear cell meningioma clear cell meningioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004372 MONDO:0003335 True chronic toxic polyneuropathy chronic polyneuropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004372 MONDO:0003335 True chronic toxic polyneuropathy chronic polyneuropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004373 MONDO:0003262 True adult papillary meningioma rhabdoid meningioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0004373 MONDO:0021088 True adult papillary meningioma papillary meningioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0004374 MONDO:0002129 True adult extraskeletal osteosarcoma bone cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0004374 MONDO:0002621 True adult extraskeletal osteosarcoma extraosseous osteosarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004375 MONDO:0005300 True end stage renal failure chronic kidney disease UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004376 MONDO:0002482 True infiltrating nipple syringomatous adenoma nipple neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004377 MONDO:0002994 True pancreatic non-functioning delta cell tumor pancreatic delta cell neuroendocrine tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004377 MONDO:0004334 True pancreatic non-functioning delta cell tumor non-functional pancreatic neuroendocrine tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004378 MONDO:0016715 True pediatric cerebral ependymoblastoma ependymoblastoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004379 MONDO:0004989 True female breast carcinoma breast carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004375 MONDO:0005300 True end stage renal failure chronic kidney disease UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004376 MONDO:0002482 True infiltrating nipple syringomatous adenoma nipple neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004377 MONDO:0002994 True pancreatic non-functioning delta cell tumor pancreatic delta cell neuroendocrine tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004377 MONDO:0004334 True pancreatic non-functioning delta cell tumor non-functional pancreatic neuroendocrine tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004378 MONDO:0002731 True pediatric cerebral ependymoblastoma cerebral hemisphere cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004378 MONDO:0016715 True pediatric cerebral ependymoblastoma ependymoblastoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004379 MONDO:0004989 True female breast carcinoma breast carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004380 MONDO:0005089 True dendritic cell sarcoma sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004380 MONDO:0006247 True dendritic cell sarcoma histiocytic and dendritic cell neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0004381 MONDO:0004286 True pancreatic intraductal papillary-mucinous neoplasm with low grade dysplasia pancreatic intraductal papillary-mucinous neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004383 MONDO:0002999 True adult central nervous system germinoma central nervous system germinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004382 MONDO:0004867 True laryngeal disorder upper respiratory tract disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004383 MONDO:0002999 True adult central nervous system germinoma central nervous system germinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0004383 MONDO:0003405 True adult central nervous system germinoma adult central nervous system germ cell tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004384 MONDO:0002537 True maxillary sinus inverted papilloma inverted papilloma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004384 MONDO:0004457 True maxillary sinus inverted papilloma maxillary sinus Schneiderian papilloma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004386 MONDO:0003236 True uterine corpus atypical polypoid adenomyoma atypical polypoid adenomyoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004386 MONDO:0003237 True uterine corpus atypical polypoid adenomyoma adenomyoma of uterine corpus UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004387 MONDO:0005558 True luteoma of pregnancy ovarian disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004387 MONDO:0024575 True luteoma of pregnancy pregnancy disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0004386 MONDO:0003237 True uterine corpus atypical polypoid adenomyoma adenomyoma of uterine corpus UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004387 MONDO:0005558 True luteoma of pregnancy ovarian disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004389 MONDO:0002875 True mite infestation parasitic ectoparasitic infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004390 MONDO:0005328 True ocular hypotension eye disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0004392 MONDO:0002217 True intracranial extraskeletal myxoid chondrosarcoma central nervous system sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004392 MONDO:0012825 True intracranial extraskeletal myxoid chondrosarcoma extraskeletal myxoid chondrosarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004393 MONDO:0003268 True mixed astrocytoma-ependymoma mixed glioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004394 MONDO:0001748 True maxillary sinus squamous cell carcinoma maxillary sinus carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004393 MONDO:0003268 True mixed astrocytoma-ependymoma mixed glioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004394 MONDO:0001748 True maxillary sinus squamous cell carcinoma maxillary sinus carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0004394 MONDO:0044705 True maxillary sinus squamous cell carcinoma paranasal sinus squamous cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004396 MONDO:0001279 True cervical spinal canal and spinal cord meningioma intraspinal meningioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004397 MONDO:0004398 True benign mediastinal psammomatous neurilemmoma mediastinal schwannoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004396 MONDO:0001279 True cervical spinal canal and spinal cord meningioma intraspinal meningioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004397 MONDO:0004398 True benign mediastinal psammomatous neurilemmoma mediastinal schwannoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0004398 MONDO:0003098 True mediastinal schwannoma mediastinal neural neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004398 MONDO:0004820 True mediastinal schwannoma peripheral nerve schwannoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004398 MONDO:0004820 True mediastinal schwannoma peripheral nerve schwannoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0004398 MONDO:0021521 True mediastinal schwannoma benign neoplasm of mediastinum UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004400 MONDO:0002588 True malignant type A thymoma thymoma type A UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004401 MONDO:0003510 True testis refractory cancer malignant testicular germ cell tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004400 MONDO:0002588 True malignant type A thymoma thymoma type A UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004401 MONDO:0003510 True testis refractory cancer malignant testicular germ cell tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0004401 MONDO:0036501 True testis refractory cancer refractory malignant neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004402 MONDO:0003402 True testicular yolk sac tumor, glandular-alveolar pattern testicular yolk sac tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004402 MONDO:0003402 True testicular yolk sac tumor, glandular-alveolar pattern testicular yolk sac tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0004403 MONDO:0003537 True childhood precursor T-lymphoblastic lymphoma/leukemia precursor T-lymphoblastic lymphoma/leukemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0004403 MONDO:0006517 True childhood precursor T-lymphoblastic lymphoma/leukemia childhood malignant neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0004404 MONDO:0003537 True refractory precursor T-lymphoblastic lymphoma/leukemia precursor T-lymphoblastic lymphoma/leukemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004404 MONDO:0004111 True refractory precursor T-lymphoblastic lymphoma/leukemia refractory hematologic cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004405 MONDO:0005028 True Barrett adenocarcinoma esophageal adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004406 MONDO:0003405 True adult central nervous system mixed germ cell tumor adult central nervous system germ cell tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004404 MONDO:0004111 True refractory precursor T-lymphoblastic lymphoma/leukemia refractory hematologic cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004405 MONDO:0005028 True Barrett adenocarcinoma esophageal adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004406 MONDO:0003405 True adult central nervous system mixed germ cell tumor adult central nervous system germ cell tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0004406 MONDO:0016742 True adult central nervous system mixed germ cell tumor mixed germ cell tumor of central nervous system UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004407 MONDO:0003325 True stroma-dominant and stroma-poor composite ganglioneuroblastoma nodular ganglioneuroblastoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004408 MONDO:0003325 True schwannian stroma-rich and stroma-poor composite ganglioneuroblastoma nodular ganglioneuroblastoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004410 MONDO:0018352 True sarcomatoid penile squamous cell carcinoma squamous cell carcinoma of penis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004407 MONDO:0003325 True stroma-dominant and stroma-poor composite ganglioneuroblastoma nodular ganglioneuroblastoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004408 MONDO:0003325 True schwannian stroma-rich and stroma-poor composite ganglioneuroblastoma nodular ganglioneuroblastoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004409 MONDO:0003950 True nipple duct carcinoma nipple carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004410 MONDO:0018352 True sarcomatoid penile squamous cell carcinoma squamous cell carcinoma of penis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0004410 MONDO:0021663 True sarcomatoid penile squamous cell carcinoma sarcomatoid squamous cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004411 MONDO:0003523 True duodenal gastrin-producing neuroendocrine tumor gastrin-producing neuroendocrine tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004411 MONDO:0003523 True duodenal gastrin-producing neuroendocrine tumor gastrin-producing neuroendocrine tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0004411 MONDO:0015063 True duodenal gastrin-producing neuroendocrine tumor duodenal neuroendocrine tumor, well differentiated, low or intermediate grade UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0004412 MONDO:0024882 True malignant spiradenoma secondary neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004413 MONDO:0006143 True cervical non-keratinizing squamous cell carcinoma cervical squamous cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004414 MONDO:0000931 True tamoxifen-related endometrial lesion endometrial disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004415 MONDO:0003890 True lipid-cell variant infiltrating bladder urothelial carcinoma infiltrating bladder urothelial carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004416 MONDO:0003890 True plasmacytoid variant infiltrating bladder urothelial carcinoma infiltrating bladder urothelial carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004417 MONDO:0003890 True nested variant infiltrating bladder urothelial carcinoma infiltrating bladder urothelial carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004418 MONDO:0003890 True microcystic variant infiltrating bladder urothelial carcinoma infiltrating bladder urothelial carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004419 MONDO:0003890 True lymphoma-like variant infiltrating bladder urothelial carcinoma infiltrating bladder urothelial carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004413 MONDO:0006143 True cervical non-keratinizing squamous cell carcinoma cervical squamous cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004414 MONDO:0000931 True tamoxifen-related endometrial lesion endometrial disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004415 MONDO:0003890 True lipid-cell variant infiltrating bladder urothelial carcinoma infiltrating bladder urothelial carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004416 MONDO:0003890 True plasmacytoid variant infiltrating bladder urothelial carcinoma infiltrating bladder urothelial carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004417 MONDO:0003890 True nested variant infiltrating bladder urothelial carcinoma infiltrating bladder urothelial carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004418 MONDO:0003890 True microcystic variant infiltrating bladder urothelial carcinoma infiltrating bladder urothelial carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004419 MONDO:0003890 True lymphoma-like variant infiltrating bladder urothelial carcinoma infiltrating bladder urothelial carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0004420 MONDO:0004412 True breast malignant eccrine spiradenoma malignant spiradenoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004421 MONDO:0021097 True sclerosing breast papilloma intraductal breast papilloma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004422 MONDO:0002997 True cerebral falx meningioma anterior cranial fossa meningioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004421 MONDO:0021097 True sclerosing breast papilloma intraductal breast papilloma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004422 MONDO:0002997 True cerebral falx meningioma anterior cranial fossa meningioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0004423 MONDO:0002217 True central nervous system extraskeletal osteosarcoma central nervous system sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004423 MONDO:0002621 True central nervous system extraskeletal osteosarcoma extraosseous osteosarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004423 MONDO:0037740 True central nervous system extraskeletal osteosarcoma malignant central nervous system mesenchymal, non-meningothelial neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004425 MONDO:0003240 True hyperthyroidism thyroid gland disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004426 MONDO:0003774 True frontal convexity meningioma cerebral convexity meningioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004425 MONDO:0003240 True hyperthyroidism thyroid gland disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004426 MONDO:0003774 True frontal convexity meningioma cerebral convexity meningioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0004427 MONDO:0021071 True supraglottis neoplasm laryngeal neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0004428 MONDO:0003422 True alveoli adenoma lung adenoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004430 MONDO:0018352 True penis mixed squamous cell carcinoma squamous cell carcinoma of penis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004429 MONDO:0002898 True skin meningioma skin cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004429 MONDO:0016642 True skin meningioma meningioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004430 MONDO:0018352 True penis mixed squamous cell carcinoma squamous cell carcinoma of penis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004431 MONDO:0006816 True hemarthrosis arthropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0004432 MONDO:0003517 True mature pericardial teratoma mature teratoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004432 MONDO:0021381 True mature pericardial teratoma neoplasm of pericardium UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0004433 MONDO:0002979 True papillary carcinoma of the penis papillary squamous carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004433 MONDO:0018352 True papillary carcinoma of the penis squamous cell carcinoma of penis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004435 MONDO:0002397 True liver fibrosarcoma liver sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004433 MONDO:0018352 True papillary carcinoma of the penis squamous cell carcinoma of penis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004435 MONDO:0002397 True liver fibrosarcoma liver sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0004435 MONDO:0005164 True liver fibrosarcoma fibrosarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004436 MONDO:0003589 True ovarian myxoid liposarcoma liposarcoma of the ovary UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004436 MONDO:0013280 True ovarian myxoid liposarcoma myxoid liposarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004438 MONDO:0004989 True sporadic breast cancer breast carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004439 MONDO:0016642 True periocular meningioma meningioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004436 MONDO:0003589 True ovarian myxoid liposarcoma liposarcoma of the ovary UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004436 MONDO:0013280 True ovarian myxoid liposarcoma myxoid liposarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004438 MONDO:0004989 True sporadic breast cancer breast carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004439 MONDO:0016642 True periocular meningioma meningioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0004440 MONDO:0021232 True pineal region meningioma pineal body neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004441 MONDO:0003581 True childhood ovarian embryonal carcinoma ovarian embryonal carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004441 MONDO:0003581 True childhood ovarian embryonal carcinoma ovarian embryonal carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0004441 MONDO:0003760 True childhood ovarian embryonal carcinoma pediatric ovarian germ cell tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004441 MONDO:0004479 True childhood ovarian embryonal carcinoma malignant childhood germ cell neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004441 MONDO:0020577 True childhood ovarian embryonal carcinoma childhood gonadal germ cell tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004442 MONDO:0003510 True testis polyembryoma malignant testicular germ cell tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004442 MONDO:0003510 True testis polyembryoma malignant testicular germ cell tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0004442 MONDO:0015863 True testis polyembryoma polyembryoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004443 MONDO:0006351 True chest wall parachordoma parachordoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004443 MONDO:0006351 True chest wall parachordoma parachordoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0004443 MONDO:0021388 True chest wall parachordoma neoplasm of chest wall UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004444 MONDO:0003386 True bladder tubulo-cystic clear cell adenocarcinoma bladder clear cell adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004445 MONDO:0003386 True bladder papillary clear cell adenocarcinoma bladder clear cell adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004446 MONDO:0002997 True olfactory groove meningioma anterior cranial fossa meningioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004444 MONDO:0003386 True bladder tubulo-cystic clear cell adenocarcinoma bladder clear cell adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004445 MONDO:0003386 True bladder papillary clear cell adenocarcinoma bladder clear cell adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004446 MONDO:0002997 True olfactory groove meningioma anterior cranial fossa meningioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0004447 MONDO:0002998 True pituitary stalk meningioma skull base meningioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004448 MONDO:0002537 True frontal sinus inverted papilloma inverted papilloma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004448 MONDO:0003752 True frontal sinus inverted papilloma frontal sinus Schneiderian papilloma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004449 MONDO:0004262 True intraductal breast myoepitheliosis breast myoepitheliosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004451 MONDO:0003210 True sarcomatous intrahepatic cholangiocarcinoma intrahepatic cholangiocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004452 MONDO:0002999 True childhood central nervous system germinoma central nervous system germinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004449 MONDO:0004262 True intraductal breast myoepitheliosis breast myoepitheliosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004450 MONDO:0003718 True carotid artery occlusion occlusion precerebral artery UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004450 MONDO:0005269 True carotid artery occlusion carotid artery disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004451 MONDO:0003210 True sarcomatous intrahepatic cholangiocarcinoma intrahepatic cholangiocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004452 MONDO:0002999 True childhood central nervous system germinoma central nervous system germinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0004452 MONDO:0003750 True childhood central nervous system germinoma childhood central nervous system germ cell tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004452 MONDO:0004479 True childhood central nervous system germinoma malignant childhood germ cell neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004453 MONDO:0003402 True testicular yolk sac tumor, myxomatous pattern testicular yolk sac tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004454 MONDO:0017043 True cellular congenital mesoblastic nephroma congenital mesoblastic nephroma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004455 MONDO:0017043 True classic congenital mesoblastic nephroma congenital mesoblastic nephroma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004453 MONDO:0003402 True testicular yolk sac tumor, myxomatous pattern testicular yolk sac tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004454 MONDO:0017043 True cellular congenital mesoblastic nephroma congenital mesoblastic nephroma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004455 MONDO:0017043 True classic congenital mesoblastic nephroma congenital mesoblastic nephroma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004456 MONDO:0002491 True cocaine abuse substance abuse UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0004457 MONDO:0006353 True maxillary sinus Schneiderian papilloma paranasal sinus Schneiderian papilloma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0004457 MONDO:0021484 True maxillary sinus Schneiderian papilloma benign neoplasm of maxillary sinus UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004458 MONDO:0002751 True bladder mixed adenocarcinoma bladder adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004459 MONDO:0002751 True bladder hepatoid adenocarcinoma bladder adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004458 MONDO:0002751 True bladder mixed adenocarcinoma bladder adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004459 MONDO:0002751 True bladder hepatoid adenocarcinoma bladder adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0004459 MONDO:0006243 True bladder hepatoid adenocarcinoma hepatoid adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004460 MONDO:0005032 True thyroid gland fetal adenoma follicular thyroid adenoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004461 MONDO:0003434 True vaginal tubulovillous adenoma vaginal adenoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004462 MONDO:0003420 True extrahepatic bile duct cystadenoma bile duct cystadenoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004463 MONDO:0009692 True cellular phase chronic idiopathic myelofibrosis primary myelofibrosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004464 MONDO:0004191 True nephrogenic adenoma of the urethra nephrogenic adenoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004466 MONDO:0005071 True neuronitis nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004467 MONDO:0003513 True mature gastric teratoma gastric teratoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004460 MONDO:0005032 True thyroid gland fetal adenoma follicular thyroid adenoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004461 MONDO:0003434 True vaginal tubulovillous adenoma vaginal adenoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004462 MONDO:0003420 True extrahepatic bile duct cystadenoma bile duct cystadenoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004463 MONDO:0009692 True cellular phase chronic idiopathic myelofibrosis primary myelofibrosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004464 MONDO:0004177 True nephrogenic adenoma of the urethra benign urethral neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004464 MONDO:0004191 True nephrogenic adenoma of the urethra nephrogenic adenoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004465 MONDO:0002670 True periampullary adenocarcinoma ampulla of vater adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004466 MONDO:0005071 True neuronitis nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004467 MONDO:0003513 True mature gastric teratoma gastric teratoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0004467 MONDO:0003517 True mature gastric teratoma mature teratoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004468 MONDO:0002651 True anal canal Paget disease anal Paget disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004468 MONDO:0002735 True anal canal Paget disease anal canal adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004469 MONDO:0002529 True pseudovascular skin squamous cell carcinoma skin squamous cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004468 MONDO:0002735 True anal canal Paget disease anal canal adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004469 MONDO:0002529 True pseudovascular skin squamous cell carcinoma skin squamous cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0004469 MONDO:0005056 True pseudovascular skin squamous cell carcinoma keratinizing squamous cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004471 MONDO:0042485 True bacterial arthritis infective arthritis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004472 MONDO:0002707 True breast columnar cell mucinous carcinoma breast mucinous carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004472 MONDO:0002707 True breast columnar cell mucinous carcinoma breast mucinous carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0004473 MONDO:0004109 True epiglottis cancer epiglottis neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004473 MONDO:0004357 True epiglottis cancer carcinoma of supraglottis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004474 MONDO:0004699 True gallbladder lymphoma gastrointestinal lymphoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004474 MONDO:0005411 True gallbladder lymphoma gallbladder cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004475 MONDO:0006451 True thymus clear cell carcinoma thymic carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004474 MONDO:0005411 True gallbladder lymphoma gallbladder cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004475 MONDO:0006451 True thymus clear cell carcinoma thymic carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0004477 MONDO:0003327 True adrenal gland ganglioneuroblastoma peripheral ganglioneuroblastoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004477 MONDO:0021089 True adrenal gland ganglioneuroblastoma peripheral nervous system cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004478 MONDO:0003864 True pregerminal center chronic lymphocytic leukemia/small lymphocytic lymphoma chronic lymphocytic leukemia/small lymphocytic lymphoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004479 MONDO:0003751 True malignant childhood germ cell neoplasm childhood germ cell tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004478 MONDO:0003864 True pregerminal center chronic lymphocytic leukemia/small lymphocytic lymphoma chronic lymphocytic leukemia/small lymphocytic lymphoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004479 MONDO:0003751 True malignant childhood germ cell neoplasm childhood germ cell tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0004479 MONDO:0006290 True malignant childhood germ cell neoplasm malignant germ cell tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0004479 MONDO:0006517 True malignant childhood germ cell neoplasm childhood malignant neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004481 MONDO:0004286 True pancreatic intraductal papillary-mucinous neoplasm with an associated invasive carcinoma pancreatic intraductal papillary-mucinous neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004481 MONDO:0006047 True pancreatic intraductal papillary-mucinous neoplasm with an associated invasive carcinoma pancreatic adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004481 MONDO:0004285 True pancreatic intraductal papillary-mucinous neoplasm with an associated invasive carcinoma pancreatic intraductal papillary-mucinous carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004481 MONDO:0004286 True pancreatic intraductal papillary-mucinous neoplasm with an associated invasive carcinoma pancreatic intraductal papillary-mucinous neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004481 MONDO:0006047 True pancreatic intraductal papillary-mucinous neoplasm with an associated invasive carcinoma pancreatic adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0004482 MONDO:0044335 True fibroosseous pseudotumor of the digits benign soft tissue neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0004483 MONDO:0003424 True thyroid gland oncocytic adenoma oncocytic adenoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004483 MONDO:0005032 True thyroid gland oncocytic adenoma follicular thyroid adenoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004484 MONDO:0005411 True gallbladder melanoma gallbladder cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004483 MONDO:0005032 True thyroid gland oncocytic adenoma follicular thyroid adenoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004484 MONDO:0005411 True gallbladder melanoma gallbladder cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0004484 MONDO:0045070 True gallbladder melanoma digestive system melanoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004485 MONDO:0004496 True interstitial myocarditis myocarditis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004486 MONDO:0003238 True endocervical type cervical adenomyoma cervical adenomyoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004487 MONDO:0003238 True endometrial type cervical adenomyoma cervical adenomyoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004488 MONDO:0003238 True cervical atypical polypoid adenomyoma cervical adenomyoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004489 MONDO:0006206 True fallopian tube gestational choriocarcinoma fallopian tube carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004489 MONDO:0020550 True fallopian tube gestational choriocarcinoma gestational choriocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004491 MONDO:0005207 True uterine corpus choriocarcinoma choriocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004493 MONDO:0003402 True testicular yolk sac tumor, papillary pattern testicular yolk sac tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004494 MONDO:0003402 True testicular yolk sac tumor, hepatoid pattern testicular yolk sac tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004495 MONDO:0005129 True myotonic cataract cataract UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004495 MONDO:0016107 True myotonic cataract myotonic dystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004496 MONDO:0024643 True myocarditis myocardial disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004497 MONDO:0005976 True tertiary syphilis syphilis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004498 MONDO:0001279 True sacral spinal canal and spinal cord meningioma intraspinal meningioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004499 MONDO:0004332 True lung hilum carcinoma lung hilum cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004499 MONDO:0005138 True lung hilum carcinoma lung carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004500 MONDO:0006883 True lung superior sulcus carcinoma malignant superior sulcus neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004501 MONDO:0003461 True fallopian tube cystadenofibroma fallopian tube serous adenofibroma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004485 MONDO:0004496 True interstitial myocarditis myocarditis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004486 MONDO:0003238 True endocervical type cervical adenomyoma cervical adenomyoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004487 MONDO:0003238 True endometrial type cervical adenomyoma cervical adenomyoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004488 MONDO:0003238 True cervical atypical polypoid adenomyoma cervical adenomyoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004489 MONDO:0006206 True fallopian tube gestational choriocarcinoma fallopian tube carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004489 MONDO:0020550 True fallopian tube gestational choriocarcinoma gestational choriocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004490 MONDO:0004491 True gestational uterine corpus choriocarcinoma uterine corpus choriocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004490 MONDO:0020550 True gestational uterine corpus choriocarcinoma gestational choriocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004491 MONDO:0005207 True uterine corpus choriocarcinoma choriocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004493 MONDO:0003402 True testicular yolk sac tumor, papillary pattern testicular yolk sac tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004494 MONDO:0003402 True testicular yolk sac tumor, hepatoid pattern testicular yolk sac tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004495 MONDO:0005129 True myotonic cataract cataract UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004497 MONDO:0005976 True tertiary syphilis syphilis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004498 MONDO:0001279 True sacral spinal canal and spinal cord meningioma intraspinal meningioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004499 MONDO:0004332 True lung hilum carcinoma lung hilum cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004499 MONDO:0005138 True lung hilum carcinoma lung carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004500 MONDO:0006883 True lung superior sulcus carcinoma malignant superior sulcus neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004501 MONDO:0003461 True fallopian tube cystadenofibroma fallopian tube serous adenofibroma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0004501 MONDO:0003464 True fallopian tube cystadenofibroma cystadenofibroma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004503 MONDO:0003908 True upper clivus meningioma clivus meningioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004504 MONDO:0004197 True penile urethral cancer male urethral cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004505 MONDO:0021097 True central breast papilloma intraductal breast papilloma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004506 MONDO:0021097 True microscopic breast papilloma intraductal breast papilloma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004507 MONDO:0021097 True atypical breast papilloma intraductal breast papilloma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004509 MONDO:0003455 True intrahepatic biliary papillomatosis bile duct papillary neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004510 MONDO:0006097 True inflammatory liposarcoma atypical lipomatous tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004511 MONDO:0003908 True lower clivus meningioma clivus meningioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004502 MONDO:0016642 True parapharyngeal meningioma meningioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004503 MONDO:0003908 True upper clivus meningioma clivus meningioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004504 MONDO:0004197 True penile urethral cancer male urethral cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004505 MONDO:0021097 True central breast papilloma intraductal breast papilloma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004506 MONDO:0021097 True microscopic breast papilloma intraductal breast papilloma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004507 MONDO:0021097 True atypical breast papilloma intraductal breast papilloma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004508 MONDO:0005076 True periapical periodontitis periodontitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004509 MONDO:0003455 True intrahepatic biliary papillomatosis bile duct papillary neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004510 MONDO:0006097 True inflammatory liposarcoma atypical lipomatous tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004511 MONDO:0003908 True lower clivus meningioma clivus meningioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0004512 MONDO:0004141 True meningeal melanomatosis melanomatosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004512 MONDO:0016747 True meningeal melanomatosis primary melanoma of the central nervous system UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0004512 MONDO:0021322 True meningeal melanomatosis malignant tumor of meninges UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004513 MONDO:0017386 True adult pleomorphic rhabdomyosarcoma pleomorphic rhabdomyosarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004514 MONDO:0003014 True chronic rhinitis rhinitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004516 MONDO:0004197 True bulbomembranous urethral cancer male urethral cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004518 MONDO:0004192 True anterior urethra cancer urethra cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004519 MONDO:0006500 True synovial angioma hemangioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004513 MONDO:0017386 True adult pleomorphic rhabdomyosarcoma pleomorphic rhabdomyosarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004514 MONDO:0003014 True chronic rhinitis rhinitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004516 MONDO:0004197 True bulbomembranous urethral cancer male urethral cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004517 MONDO:0001926 True ureter tuberculosis ureteral disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004517 MONDO:0006002 True ureter tuberculosis urogenital tuberculosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004518 MONDO:0004192 True anterior urethra cancer urethra cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004519 MONDO:0006500 True synovial angioma hemangioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0004519 MONDO:0024715 True synovial angioma benign synovial neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004520 MONDO:0006446 True intratubular embryonal carcinoma testicular embryonal carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004521 MONDO:0017387 True adult epithelioid sarcoma epithelioid sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004523 MONDO:0002529 True clear cell squamous cell skin carcinoma skin squamous cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004520 MONDO:0006446 True intratubular embryonal carcinoma testicular embryonal carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004521 MONDO:0017387 True adult epithelioid sarcoma epithelioid sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004522 MONDO:0004335 True peritonitis digestive system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004523 MONDO:0002529 True clear cell squamous cell skin carcinoma skin squamous cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0004523 MONDO:0005056 True clear cell squamous cell skin carcinoma keratinizing squamous cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004525 MONDO:0021201 True scabies skin infection UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0004524 MONDO:0005032 True thyroid gland atypical follicular adenoma follicular thyroid adenoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004525 MONDO:0004389 True scabies mite infestation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0004526 MONDO:0006424 True mixed endometrial stromal and smooth muscle tumor soft tissue neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0004526 MONDO:0021254 True mixed endometrial stromal and smooth muscle tumor corpus uteri neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0004528 MONDO:0040675 True lymph node palisaded myofibroblastoma myofibroblastoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0004529 MONDO:0037745 True non-ossifying fibromyxoid tumor fibromyxoid tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004530 MONDO:0005153 True early invasive cervical adenocarcinoma cervical adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004531 MONDO:0002585 True sclerosing adenosis of breast breast fibrocystic change, proliferative type UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004531 MONDO:0003725 True sclerosing adenosis of breast breast adenosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004530 MONDO:0005153 True early invasive cervical adenocarcinoma cervical adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004531 MONDO:0002585 True sclerosing adenosis of breast breast fibrocystic change, proliferative type UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004532 MONDO:0000649 True auditory system cancer sensory system cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004532 MONDO:0002409 True auditory system cancer auditory system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0004533 MONDO:0003096 True perineural angioma deep hemangioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004534 MONDO:0003725 True microglandular adenosis of breast breast adenosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004534 MONDO:0003725 True microglandular adenosis of breast breast adenosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0004535 MONDO:0003760 True childhood choriocarcinoma of the ovary pediatric ovarian germ cell tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004535 MONDO:0004322 True childhood choriocarcinoma of the ovary non-gestational ovarian choriocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004535 MONDO:0004479 True childhood choriocarcinoma of the ovary malignant childhood germ cell neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004535 MONDO:0020577 True childhood choriocarcinoma of the ovary childhood gonadal germ cell tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004537 MONDO:0002742 True intestinal variant cervical mucinous adenocarcinoma cervical mucinous adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004537 MONDO:0002742 True intestinal variant cervical mucinous adenocarcinoma cervical mucinous adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0004537 MONDO:0006254 True intestinal variant cervical mucinous adenocarcinoma intestinal type adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0004538 MONDO:0002742 True endocervical type cervical mucinous adenocarcinoma cervical mucinous adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004539 MONDO:0005561 True aortic malignant tumor aortic disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0004539 MONDO:0040676 True aortic malignant tumor great vessel cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004540 MONDO:0017827 True epithelioid malignant peripheral nerve sheath tumor malignant peripheral nerve sheath tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004541 MONDO:0003669 True pseudoglandular variant testicular seminoma testicular seminoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004542 MONDO:0006134 True cervical adenosquamous carcinoma, glassy cell variant cervical adenosquamous carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004543 MONDO:0003402 True enteric pattern testicular yolk sac tumor testicular yolk sac tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004540 MONDO:0017827 True epithelioid malignant peripheral nerve sheath tumor malignant peripheral nerve sheath tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004541 MONDO:0003669 True pseudoglandular variant testicular seminoma testicular seminoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004542 MONDO:0006134 True cervical adenosquamous carcinoma, glassy cell variant cervical adenosquamous carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004543 MONDO:0003402 True enteric pattern testicular yolk sac tumor testicular yolk sac tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0004544 MONDO:0045056 True chordoid meningioma grade II meningioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004545 MONDO:0017827 True adult malignant schwannoma malignant peripheral nerve sheath tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004546 MONDO:0003100 True lumbar plexus neoplasm nerve plexus neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004547 MONDO:0003402 True reticular pattern testicular yolk sac tumor testicular yolk sac tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004548 MONDO:0003395 True adult type testicular granulosa cell tumor testicular granulosa cell tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004550 MONDO:0003802 True malignant cornea melanoma cornea cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004545 MONDO:0017827 True adult malignant schwannoma malignant peripheral nerve sheath tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004546 MONDO:0003100 True lumbar plexus neoplasm nerve plexus neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004547 MONDO:0003402 True reticular pattern testicular yolk sac tumor testicular yolk sac tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004548 MONDO:0003395 True adult type testicular granulosa cell tumor testicular granulosa cell tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004549 MONDO:0017853 True cork-handlers' disease hypersensitivity pneumonitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004550 MONDO:0003802 True malignant cornea melanoma cornea cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0004550 MONDO:0006325 True malignant cornea melanoma ocular melanoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004552 MONDO:0006143 True microinvasive cervical squamous cell carcinoma cervical squamous cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004552 MONDO:0006143 True microinvasive cervical squamous cell carcinoma cervical squamous cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0004554 MONDO:0002730 True childhood kidney angiomyolipoma childhood kidney neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004554 MONDO:0004555 True childhood kidney angiomyolipoma kidney angiomyolipoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004554 MONDO:0004555 True childhood kidney angiomyolipoma kidney angiomyolipoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004555 MONDO:0002513 True kidney angiomyolipoma kidney benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0004555 MONDO:0002603 True kidney angiomyolipoma angiomyolipoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004556 MONDO:0003212 True carcinoma arising in nasal papillomatosis nasal cavity carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004558 MONDO:0005032 True thyroid gland macrofollicular adenoma follicular thyroid adenoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004559 MONDO:0017827 True malignant glandular tumor of peripheral nerve sheath malignant peripheral nerve sheath tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004560 MONDO:0003413 True follicular infundibulum tumor hair follicle neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004561 MONDO:0003072 True retinal melanoma retinal cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004556 MONDO:0003212 True carcinoma arising in nasal papillomatosis nasal cavity carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004557 MONDO:0002678 True congenital fibrosarcoma pediatric fibrosarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004558 MONDO:0005032 True thyroid gland macrofollicular adenoma follicular thyroid adenoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004559 MONDO:0017827 True malignant glandular tumor of peripheral nerve sheath malignant peripheral nerve sheath tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004560 MONDO:0003413 True follicular infundibulum tumor hair follicle neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004561 MONDO:0003072 True retinal melanoma retinal cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0004561 MONDO:0006325 True retinal melanoma ocular melanoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004563 MONDO:0005571 True physiological polycythemia polycythemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004568 MONDO:0004567 True paralytic ileus ileus UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004572 MONDO:0005371 True cyclothymic disorder mood disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004574 MONDO:0042976 True pyridoxine deficiency anemia vitamin B deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004577 MONDO:0003085 True corneal ulcer keratitis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004580 MONDO:0005283 True retinal degeneration retinal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004582 MONDO:0004496 True rheumatic myocarditis myocarditis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004582 MONDO:0006955 True rheumatic myocarditis rheumatic heart disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004583 MONDO:0006948 True transient retinal arterial occlusion retinal artery occlusion UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004588 MONDO:0001941 True night blindness blindness (disorder) UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004592 MONDO:0021201 True impetigo skin infection UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004597 MONDO:0005275 True pulmonary embolism and infarction lung disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004604 MONDO:0009348 True Hodgkin's lymphoma, lymphocytic-histiocytic predominance classic Hodgkin lymphoma UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004607 MONDO:0004608 True vallecula cancer oropharynx cancer SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004608 MONDO:0005517 True oropharynx cancer pharynx cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004562 MONDO:0004658 True breast apocrine carcinoma in situ breast carcinoma in situ UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004563 MONDO:0005571 True physiological polycythemia polycythemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004564 MONDO:0003240 True thyroid malformation thyroid gland disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004565 MONDO:0005020 True intestinal obstruction intestinal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004566 MONDO:0001318 True postgastrectomy syndrome functional gastric disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004566 MONDO:0005020 True postgastrectomy syndrome intestinal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004567 MONDO:0004565 True ileus intestinal obstruction UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004569 MONDO:0006683 True brachial plexus neuropathy from injury brachial plexus neuropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004570 MONDO:0004565 True intestinal volvulus intestinal obstruction UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004571 MONDO:0004565 True intestinal impaction intestinal obstruction UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004572 MONDO:0005371 True cyclothymic disorder mood disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004573 MONDO:0006873 True ariboflavinosis nutritional deficiency disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004575 MONDO:0006873 True choline deficiency disease nutritional deficiency disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004577 MONDO:0003085 True corneal ulcer keratitis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004578 MONDO:0004579 True flat retinoschisis retinoschisis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004579 MONDO:0004580 True retinoschisis retinal degeneration UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004580 MONDO:0005283 True retinal degeneration retinal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004582 MONDO:0004496 True rheumatic myocarditis myocarditis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004583 MONDO:0006948 True transient retinal arterial occlusion retinal artery occlusion UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004584 MONDO:0002312 True maple bark strippers' lung opportunistic mycosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004586 MONDO:0005275 True rheumatoid lung disease lung disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004586 MONDO:0007179 True rheumatoid lung disease autoimmune disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004587 MONDO:0004588 True hereditary night blindness night blindness UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004588 MONDO:0005283 True night blindness retinal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004591 MONDO:0004592 True impetigo herpetiformis impetigo UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004592 MONDO:0002922 True impetigo pyoderma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004593 MONDO:0002263 True Bartholin duct cyst female reproductive system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004594 MONDO:0005279 True puerperal pulmonary embolism pulmonary embolism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004596 MONDO:0005009 True cor pulmonale congestive heart failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004598 MONDO:0004596 True acute cor pulmonale cor pulmonale UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004599 MONDO:0002491 True barbiturate abuse substance abuse UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004600 MONDO:0005059 True monocytic leukemia leukemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004601 MONDO:0004605 True ulcer of lower limbs chronic ulcer of skin UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004604 MONDO:0009348 True Hodgkin's lymphoma, lymphocytic-histiocytic predominance classic Hodgkin lymphoma UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0004605 MONDO:0005093 True chronic ulcer of skin skin disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004607 MONDO:0004608 True vallecula cancer oropharynx cancer SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004608 MONDO:0005517 True oropharynx cancer pharynx cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0004608 MONDO:0021364 True oropharynx cancer neoplasm of oropharynx UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0004611 MONDO:0004608 True soft palate cancer oropharynx cancer UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004611 MONDO:0005286 True soft palate cancer palatal neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004611 MONDO:0005515 True soft palate cancer oral cavity cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004613 MONDO:0020675 True acute intestinal ischemia ischemic bowel disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004616 MONDO:0005898 True herpetic whitlow paronychia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004617 MONDO:0003406 True recurrent hypersomnia sleep-wake disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004620 MONDO:0009348 True Hodgkin's lymphoma, lymphocytic depletion classic Hodgkin lymphoma UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004624 MONDO:0004611 True uvula cancer soft palate cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004625 MONDO:0004634 True phlebitis vein disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004627 MONDO:0043579 True duodenitis enteritis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004631 MONDO:0005515 True tongue cancer oral cavity cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004611 MONDO:0005515 True soft palate cancer oral cavity cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004612 MONDO:0002637 True malignant histiocytosis histiocytosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004614 MONDO:0004600 True chronic monocytic leukemia monocytic leukemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004615 MONDO:0005507 True upper gum cancer gingival cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004616 MONDO:0004609 True herpetic whitlow herpes simplex infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004617 MONDO:0003406 True recurrent hypersomnia sleep-wake disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004618 MONDO:0005071 True diplegia of upper limb nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004620 MONDO:0009348 True Hodgkin's lymphoma, lymphocytic depletion classic Hodgkin lymphoma UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0004621 MONDO:0006834 True upper lip cancer lip cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004622 MONDO:0005020 True chronic intestinal vascular insufficiency intestinal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004624 MONDO:0004611 True uvula cancer soft palate cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004625 MONDO:0004634 True phlebitis vein disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004630 MONDO:0005485 True substance-induced psychosis psychotic disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004631 MONDO:0005515 True tongue cancer oral cavity cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0004631 MONDO:0005627 True tongue cancer head and neck cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004631 MONDO:0021240 True tongue cancer tongue neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004633 MONDO:0009348 True Hodgkin's lymphoma, mixed cellularity classic Hodgkin lymphoma UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004634 MONDO:0005385 True vein disorder vascular disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004635 MONDO:0005806 True postcricoid region cancer hypopharynx cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004633 MONDO:0009348 True Hodgkin's lymphoma, mixed cellularity classic Hodgkin lymphoma UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0004634 MONDO:0005385 True vein disorder vascular disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004635 MONDO:0005806 True postcricoid region cancer hypopharynx cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004636 MONDO:0000371 True lip carcinoma in situ oral cavity carcinoma in situ UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0004636 MONDO:0021333 True lip carcinoma in situ carcinoma of lip UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004637 MONDO:0005806 True aryepiglottic fold cancer hypopharynx cancer SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004640 MONDO:0004966 True alcoholic gastritis gastritis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004637 MONDO:0005806 True aryepiglottic fold cancer hypopharynx cancer SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004640 MONDO:0004966 True alcoholic gastritis gastritis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0004641 MONDO:0002656 True skin carcinoma in situ skin carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004641 MONDO:0004647 True skin carcinoma in situ in situ carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004641 MONDO:0004647 True skin carcinoma in situ in situ carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0004642 MONDO:0006998 True tonsillar pillar cancer tonsil cancer SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004643 MONDO:0005059 True myeloid leukemia leukemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004645 MONDO:0005515 True cheek mucosa cancer oral cavity cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004643 MONDO:0005059 True myeloid leukemia leukemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004645 MONDO:0005515 True cheek mucosa cancer oral cavity cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0004645 MONDO:0005627 True cheek mucosa cancer head and neck cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004645 MONDO:0021241 True cheek mucosa cancer buccal mucosa neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0004646 MONDO:0004605 True decubitus ulcer chronic ulcer of skin UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0004647 MONDO:0004993 True in situ carcinoma carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004647 MONDO:0021074 True in situ carcinoma precancerous condition UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004648 MONDO:0001627 True vascular dementia dementia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004648 MONDO:0001627 True vascular dementia dementia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004649 MONDO:0004652 True anaerobic pneumonia bacterial pneumonia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004650 MONDO:0002095 True malignant carotid body paraganglioma vascular cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0004650 MONDO:0005627 True malignant carotid body paraganglioma head and neck cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004650 MONDO:0021053 True malignant carotid body paraganglioma carotid body paraganglioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0004650 MONDO:0021069 True malignant carotid body paraganglioma malignant endocrine neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004650 MONDO:0021089 True malignant carotid body paraganglioma peripheral nervous system cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004652 MONDO:0005113 True bacterial pneumonia bacterial infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004652 MONDO:0005249 True bacterial pneumonia pneumonia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004653 MONDO:0006311 True atypical chronic myeloid leukemia, BCR-ABL1 negative myelodysplastic/myeloproliferative neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004658 MONDO:0004647 True breast carcinoma in situ in situ carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004652 MONDO:0005113 True bacterial pneumonia bacterial infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004652 MONDO:0005249 True bacterial pneumonia pneumonia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004653 MONDO:0006311 True atypical chronic myeloid leukemia, BCR-ABL1 negative myelodysplastic/myeloproliferative neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004653 MONDO:0020077 True atypical chronic myeloid leukemia, BCR-ABL1 negative myelodysplastic/myeloproliferative disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0004657 MONDO:0004674 True disseminated chorioretinitis chorioretinitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004658 MONDO:0004647 True breast carcinoma in situ in situ carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0004658 MONDO:0004989 True breast carcinoma in situ breast carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004660 MONDO:0004647 True lung carcinoma in situ in situ carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004659 MONDO:0004647 True eye carcinoma in situ in situ carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004660 MONDO:0004647 True lung carcinoma in situ in situ carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0004660 MONDO:0005138 True lung carcinoma in situ lung carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004661 MONDO:0001419 True trachea carcinoma in situ trachea squamous cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004661 MONDO:0004693 True trachea carcinoma in situ squamous carcinoma in situ UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0004662 MONDO:0004664 True heterophyiasis helminthiasis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0004663 MONDO:0002032 True colon carcinoma in situ colon carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004664 MONDO:0005135 True helminthiasis parasitic infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004663 MONDO:0004698 True colon carcinoma in situ intestine carcinoma in situ UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004664 MONDO:0005135 True helminthiasis parasitic infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0004665 MONDO:0009348 True nodular sclerosis classical Hodgkin lymphoma classic Hodgkin lymphoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0004666 MONDO:0004664 True metagonimiasis helminthiasis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0004667 MONDO:0021242 True sublingual gland cancer sublingual gland neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0004667 MONDO:0044743 True sublingual gland cancer major salivary gland cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004668 MONDO:0004664 True fascioliasis helminthiasis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004668 MONDO:0004664 True fascioliasis helminthiasis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004669 MONDO:0005515 True salivary gland cancer oral cavity cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0004669 MONDO:0005627 True salivary gland cancer head and neck cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004669 MONDO:0021357 True salivary gland cancer tumor of salivary gland UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004670 MONDO:0005554 True lupus erythematosus rheumatic disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004670 MONDO:0007179 True lupus erythematosus autoimmune disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004670 MONDO:0007179 True lupus erythematosus autoimmune disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0004671 MONDO:0004693 True penis carcinoma in situ squamous carcinoma in situ UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0004671 MONDO:0018352 True penis carcinoma in situ squamous cell carcinoma of penis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004672 MONDO:0004664 True fasciolopsiasis helminthiasis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004674 MONDO:0020283 True chorioretinitis uveitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004679 MONDO:0043243 True leukoplakia of vagina leukoplakia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004684 MONDO:0016037 True plantar fibromatosis superficial Fibromatosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0004672 MONDO:0004664 True fasciolopsiasis helminthiasis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004673 MONDO:0006834 True lower lip cancer lip cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004675 MONDO:0009637 True mitochondrial encephalomyopathy inborn mitochondrial myopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004677 MONDO:0024268 True tinea nigra superficial mycosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004679 MONDO:0001433 True leukoplakia of vagina vaginal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004680 MONDO:0000602 True primary thrombocytopenia autoimmune disorder of blood UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004681 MONDO:0000592 True learning disability specific developmental disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004682 MONDO:0005515 True retromolar area cancer oral cavity cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004684 MONDO:0016037 True plantar fibromatosis superficial Fibromatosis UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0004685 MONDO:0000621 True Waldeyer's ring cancer immune system cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004685 MONDO:0004608 True Waldeyer's ring cancer oropharynx cancer UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004689 MONDO:0019052 True inborn metal metabolism disorder inborn errors of metabolism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0004690 MONDO:0006998 True tonsillar fossa cancer tonsil cancer SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004691 MONDO:0020642 True autosomal dominant polycystic kidney disease polycystic kidney disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004691 MONDO:0000426 True autosomal dominant polycystic kidney disease autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004691 MONDO:0020642 True autosomal dominant polycystic kidney disease polycystic kidney disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0004693 MONDO:0004647 True squamous carcinoma in situ in situ carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0004693 MONDO:0005096 True squamous carcinoma in situ squamous cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004694 MONDO:0005154 True hepatopulmonary syndrome liver disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004695 MONDO:0002691 True liver lymphoma liver cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004694 MONDO:0005154 True hepatopulmonary syndrome liver disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004695 MONDO:0002691 True liver lymphoma liver cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0004695 MONDO:0004699 True liver lymphoma gastrointestinal lymphoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004696 MONDO:0002358 True larynx carcinoma in situ laryngeal carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004696 MONDO:0004647 True larynx carcinoma in situ in situ carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004697 MONDO:0043243 True esophageal leukoplakia leukoplakia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004699 MONDO:0002516 True gastrointestinal lymphoma digestive system cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004699 MONDO:0005062 True gastrointestinal lymphoma lymphoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004696 MONDO:0004647 True larynx carcinoma in situ in situ carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004697 MONDO:0003749 True esophageal leukoplakia esophageal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004698 MONDO:0004647 True intestine carcinoma in situ in situ carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004699 MONDO:0002516 True gastrointestinal lymphoma digestive system cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004699 MONDO:0005062 True gastrointestinal lymphoma lymphoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0004700 MONDO:0021243 True parotid gland cancer parotid gland neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0004700 MONDO:0044743 True parotid gland cancer major salivary gland cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004701 MONDO:0002654 True uterine polyp uterine disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004701 MONDO:0005079 True uterine polyp polyp SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004702 MONDO:0043243 True uterine cervix leukoplakia leukoplakia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0004701 MONDO:0002654 True uterine polyp uterine disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004701 MONDO:0005079 True uterine polyp polyp SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0004702 MONDO:0002256 True uterine cervix leukoplakia cervix disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0004703 MONDO:0003930 True bladder carcinoma in situ non-invasive bladder urothelial carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004703 MONDO:0004647 True bladder carcinoma in situ in situ carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004703 MONDO:0004647 True bladder carcinoma in situ in situ carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0004703 MONDO:0006111 True bladder carcinoma in situ bladder flat intraepithelial lesion UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004705 MONDO:0016238 True liver solitary fibrous tumor solitary fibrous tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004705 MONDO:0024477 True liver solitary fibrous tumor liver and intrahepatic bile duct neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004705 MONDO:0024477 True liver solitary fibrous tumor liver and intrahepatic bile duct neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004706 MONDO:0002137 True discoid lupus erythematosus of eyelid noninfectious dermatoses of eyelid UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0004707 MONDO:0007108 True anal canal carcinoma in situ anal canal carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004708 MONDO:0004647 True esophagus carcinoma in situ in situ carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004708 MONDO:0004647 True esophagus carcinoma in situ in situ carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0004708 MONDO:0019086 True esophagus carcinoma in situ carcinoma of esophagus UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004709 MONDO:0021374 True occipital lobe neoplasm neoplasm of cerebral hemisphere UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004712 MONDO:0004609 True herpes simplex dermatitis herpes simplex infectious disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004712 MONDO:0021201 True herpes simplex dermatitis skin infection UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004716 MONDO:0004647 True stomach carcinoma in situ in situ carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004710 MONDO:0004647 True uterus carcinoma in situ in situ carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004712 MONDO:0004609 True herpes simplex dermatitis herpes simplex infectious disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004713 MONDO:0005507 True lower gum cancer gingival cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004714 MONDO:0003939 True atrophic muscular disease muscle tissue disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004714 MONDO:0019056 True atrophic muscular disease neuromuscular disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004715 MONDO:0004647 True liver carcinoma in situ in situ carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004716 MONDO:0004647 True stomach carcinoma in situ in situ carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0004716 MONDO:0004950 True stomach carcinoma in situ gastric carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004717 MONDO:0002405 True peliosis hepatis hepatic vascular disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004718 MONDO:0002137 True xeroderma of eyelid noninfectious dermatoses of eyelid UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0004719 MONDO:0005286 True hard palate cancer palatal neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004719 MONDO:0005515 True hard palate cancer oral cavity cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004719 MONDO:0005515 True hard palate cancer oral cavity cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0004719 MONDO:0005627 True hard palate cancer head and neck cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004720 MONDO:0004651 True variola minor infection smallpox UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004723 MONDO:0000385 True liver leiomyoma benign digestive system neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004720 MONDO:0004651 True variola minor infection smallpox UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004723 MONDO:0000385 True liver leiomyoma benign digestive system neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004723 MONDO:0000627 True liver leiomyoma benign endocrine neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0004723 MONDO:0001572 True liver leiomyoma leiomyoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004723 MONDO:0024477 True liver leiomyoma liver and intrahepatic bile duct neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004723 MONDO:0024477 True liver leiomyoma liver and intrahepatic bile duct neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0004724 MONDO:0006284 True submandibular gland cancer major salivary gland carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0004724 MONDO:0021244 True submandibular gland cancer submandibular gland neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0004725 MONDO:0044937 True rectum carcinoma in situ rectal carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0004726 MONDO:0015798 True liver inflammatory myofibroblastic tumor inflammatory myofibroblastic tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004726 MONDO:0024477 True liver inflammatory myofibroblastic tumor liver and intrahepatic bile duct neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004730 MONDO:0002182 True speech disorder communication disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004731 MONDO:0002254 True central sleep apnea syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004733 MONDO:0005806 True pyriform sinus cancer hypopharynx cancer UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004737 MONDO:0037871 True homocystinuria amino acid metabolism disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004743 MONDO:0004737 True hyperhomocysteinemia homocystinuria UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004748 MONDO:0006858 True lip disorder mouth disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004749 MONDO:0001340 True myocardium cancer heart cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004727 MONDO:0005515 True vestibule of mouth cancer oral cavity cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004728 MONDO:0005266 True diabetic macular edema diabetic retinopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004729 MONDO:0003749 True dyskinesia of esophagus esophageal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004730 MONDO:0002182 True speech disorder communication disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004731 MONDO:0005296 True central sleep apnea syndrome sleep apnea syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004732 MONDO:0004647 True kidney carcinoma in situ in situ carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004733 MONDO:0005806 True pyriform sinus cancer hypopharynx cancer UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004736 MONDO:0019052 True inborn disorder of amino acid metabolism inborn errors of metabolism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004737 MONDO:0004736 True homocystinuria inborn disorder of amino acid metabolism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004739 MONDO:0004736 True urea cycle disorder inborn disorder of amino acid metabolism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004739 MONDO:0019189 True urea cycle disorder inborn disorder of amino acid and other organic acid metabolism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0004744 MONDO:0005041 True borderline glaucoma glaucoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004745 MONDO:0005294 True priapism peripheral vascular disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004746 MONDO:0005336 True myopathy of extraocular muscle myopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004747 MONDO:0000358 True cleft lip orofacial cleft UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004748 MONDO:0006858 True lip disorder mouth disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004749 MONDO:0001340 True myocardium cancer heart cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0004749 MONDO:0021380 True myocardium cancer neoplasm of myocardium UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004752 MONDO:0016755 True neurofibroma of the heart neurofibroma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004756 MONDO:0002232 True nasal cavity neoplasm nasal cavity disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004750 MONDO:0002182 True language disorder communication disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004752 MONDO:0016755 True neurofibroma of the heart neurofibroma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004753 MONDO:0003432 True mechanical strabismus strabismus UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004754 MONDO:0001593 True rectal prolapse rectal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004755 MONDO:0004664 True monieziasis helminthiasis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004756 MONDO:0002232 True nasal cavity neoplasm nasal cavity disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0004756 MONDO:0005586 True nasal cavity neoplasm head and neck neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004757 MONDO:0005756 True chronic ethmoidal sinusitis ethmoid sinusitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004757 MONDO:0006031 True chronic ethmoidal sinusitis chronic rhinosinusitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004763 MONDO:0005269 True carotid artery dissection carotid artery disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004766 MONDO:0004979 True status asthmaticus asthma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004757 MONDO:0005756 True chronic ethmoidal sinusitis ethmoid sinusitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004758 MONDO:0005328 True scotoma eye disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004759 MONDO:0000596 True zoophilia paraphilic disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004760 MONDO:0004184 True urethral false passage urethral disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004762 MONDO:0002654 True Taylor syndrome uterine disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004763 MONDO:0005269 True carotid artery dissection carotid artery disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004764 MONDO:0002183 True fibular collateral ligament bursitis enthesopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004765 MONDO:0004979 True intrinsic asthma asthma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004766 MONDO:0004979 True status asthmaticus asthma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0004768 MONDO:0003085 True keratoconjunctivitis keratitis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004769 MONDO:0021167 True orbital plasma cell granuloma myositis disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004773 MONDO:0006651 True iridocyclitis anterior uveitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004777 MONDO:0002647 True acute laryngitis laryngitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004779 MONDO:0003150 True epididymitis male reproductive system disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004781 MONDO:0005068 True acute myocardial infarction myocardial infarction SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004786 MONDO:0004789 True chronic cholangitis cholangitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004787 MONDO:0000644 True cervical mullerian papilloma cervical benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004769 MONDO:0001849 True orbital plasma cell granuloma chronic orbital inflammation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004772 MONDO:0004773 True glaucomatocyclitic crisis iridocyclitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004773 MONDO:0006651 True iridocyclitis anterior uveitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004775 MONDO:0004773 True lens-induced iridocyclitis iridocyclitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004777 MONDO:0002647 True acute laryngitis laryngitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004778 MONDO:0004779 True epididymo-orchitis epididymitis UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004779 MONDO:0003150 True epididymitis male reproductive system disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004780 MONDO:0004781 True strictly posterior acute myocardial infarction acute myocardial infarction UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004781 MONDO:0005068 True acute myocardial infarction myocardial infarction SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004782 MONDO:0005240 True diabetes insipidus kidney disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004784 MONDO:0000771 True allergic asthma allergic respiratory disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004784 MONDO:0004979 True allergic asthma asthma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004785 MONDO:0003382 True blepharitis eyelid disorder UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004786 MONDO:0004789 True chronic cholangitis cholangitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004787 MONDO:0000644 True cervical mullerian papilloma cervical benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0004787 MONDO:0002363 True cervical mullerian papilloma papilloma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004788 MONDO:0000644 True cervix squamous papilloma cervical benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004788 MONDO:0000644 True cervix squamous papilloma cervical benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0004788 MONDO:0001825 True cervix squamous papilloma squamous papilloma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004789 MONDO:0006322 True cholangitis non-neoplastic bile duct disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004795 MONDO:0002776 True otitis externa external ear disorder SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004795 MONDO:0021666 True otitis externa ear infection UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004796 MONDO:0021108 True infectious meningitis meningitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004796 MONDO:0024619 True infectious meningitis central nervous system infectious disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004806 MONDO:0005749 True chronic eosinophilic pneumonia eosinophilic pneumonia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004815 MONDO:0009693 True osteosclerotic plasma cell myeloma plasma cell myeloma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004816 MONDO:0004111 True refractory plasma cell neoplasm refractory hematologic cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004790 MONDO:0005154 True fatty liver disease liver disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004794 MONDO:0004768 True exposure keratitis keratoconjunctivitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004795 MONDO:0002776 True otitis externa external ear disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004797 MONDO:0002121 True mononeuritis of lower limb mononeuritis simplex UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004799 MONDO:0004785 True ulcerative blepharitis blepharitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004800 MONDO:0004804 True chronic dacryoadenitis dacryoadenitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004801 MONDO:0002467 True unilateral hypoactive labyrinth inner ear disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004802 MONDO:0015691 True pulmonary eosinophilia hypereosinophilic syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004803 MONDO:0015691 True disseminated eosinophilic collagen disease hypereosinophilic syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004805 MONDO:0005570 True leukocyte disorder hematologic disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004806 MONDO:0005749 True chronic eosinophilic pneumonia eosinophilic pneumonia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004808 MONDO:0002657 True benign mammary dysplasia breast disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004810 MONDO:0005756 True acute ethmoiditis ethmoid sinusitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004811 MONDO:0002314 True simple chronic conjunctivitis chronic conjunctivitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004812 MONDO:0004804 True acute dacryoadenitis dacryoadenitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004813 MONDO:0002076 True tuberculous pneumothorax pneumothorax UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004815 MONDO:0009693 True osteosclerotic plasma cell myeloma plasma cell myeloma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004816 MONDO:0004111 True refractory plasma cell neoplasm refractory hematologic cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0004816 MONDO:0004959 True refractory plasma cell neoplasm plasma cell neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004817 MONDO:0009693 True non-secretory plasma cell myeloma plasma cell myeloma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004820 MONDO:0002546 True peripheral nerve schwannoma schwannoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004821 MONDO:0020592 True nasopharyngeal disorder disorder of pharynx UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004822 MONDO:0005002 True bronchiectasis chronic obstructive pulmonary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS -MONDO:0004824 MONDO:0002026 True neonatal candidiasis candidiasis UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004817 MONDO:0009693 True non-secretory plasma cell myeloma plasma cell myeloma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004820 MONDO:0002546 True peripheral nerve schwannoma schwannoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004821 MONDO:0004867 True nasopharyngeal disorder upper respiratory tract disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004822 MONDO:0001358 True bronchiectasis bronchial disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004824 MONDO:0002026 True neonatal candidiasis candidiasis UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004826 MONDO:0004184 True urethral calculus urethral disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004826 MONDO:0004828 True urethral calculus lower urinary tract calculus UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0004827 MONDO:0001825 True esophagus squamous cell papilloma squamous papilloma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004827 MONDO:0021459 True esophagus squamous cell papilloma benign neoplasm of esophagus UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0004828 MONDO:0024647 True lower urinary tract calculus urolithiasis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004829 MONDO:0005092 True Krukenberg carcinoma signet ring cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004829 MONDO:0024879 True Krukenberg carcinoma metastatic carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0004830 MONDO:0002081 True fasciitis musculoskeletal system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004830 MONDO:0003900 True fasciitis connective tissue disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004831 MONDO:0004830 True proliferative fasciitis fasciitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0004832 MONDO:0001572 True esophagus leiomyoma leiomyoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004832 MONDO:0021459 True esophagus leiomyoma benign neoplasm of esophagus UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004834 MONDO:0004830 True ischemic fasciitis fasciitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004835 MONDO:0004830 True necrotizing fasciitis fasciitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004836 MONDO:0004187 True intravascular fasciitis nodular fasciitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004837 MONDO:0016755 True neurofibroma of the esophagus neurofibroma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004833 MONDO:0004830 True plantar fasciitis fasciitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004834 MONDO:0004830 True ischemic fasciitis fasciitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004835 MONDO:0004830 True necrotizing fasciitis fasciitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004836 MONDO:0004187 True intravascular fasciitis nodular fasciitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004837 MONDO:0016755 True neurofibroma of the esophagus neurofibroma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0004837 MONDO:0021355 True neurofibroma of the esophagus neoplasm of esophagus UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004841 MONDO:0005240 True kidney hypertrophy kidney disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004842 MONDO:0020579 True stomatitis mucositis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004844 MONDO:0043243 True oral mucosa leukoplakia leukoplakia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004846 MONDO:0005917 True placental abruption placenta disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004847 MONDO:0005129 True senile cataract cataract UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004848 MONDO:0004842 True ulcerative stomatitis stomatitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004849 MONDO:0005002 True pulmonary emphysema chronic obstructive pulmonary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004858 MONDO:0005281 True occlusion of gallbladder gallbladder disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004859 MONDO:0005281 True hydrops of gallbladder gallbladder disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004866 MONDO:0003276 True eustachian tube disorder middle ear disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004873 MONDO:0004872 True internal hemorrhoid hemorrhoid UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004875 MONDO:0002155 True xanthogranulomatous cholecystitis cholecystitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004881 MONDO:0021167 True myositis fibrosa myositis disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004893 MONDO:0003432 True hypertropia strabismus UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004896 MONDO:0003432 True esotropia strabismus UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004897 MONDO:0003432 True hypotropia strabismus UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004905 MONDO:0020598 True intestinal disaccharidase deficiency malabsorption syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004910 MONDO:0003767 True mitral valve prolapse mitral valve disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004933 MONDO:0002254 True hypoplastic left heart syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004939 MONDO:0005303 True hallucinogen dependence drug dependence UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004940 MONDO:0000922 True acute female pelvic peritonitis pelvic inflammatory disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004942 MONDO:0002889 True orbit lymphoma orbital cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004943 MONDO:0002889 True orbit sarcoma orbital cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004943 MONDO:0005089 True orbit sarcoma sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004838 MONDO:0005240 True orthostatic proteinuria kidney disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004840 MONDO:0002473 True non-congenital cyst of kidney cystic kidney disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004841 MONDO:0005240 True kidney hypertrophy kidney disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004843 MONDO:0001584 True pathologic nystagmus ocular motility disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004845 MONDO:0004842 True aphthous stomatitis stomatitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004846 MONDO:0005917 True placental abruption placenta disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004847 MONDO:0005129 True senile cataract cataract UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004848 MONDO:0004842 True ulcerative stomatitis stomatitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004849 MONDO:0005002 True pulmonary emphysema chronic obstructive pulmonary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004851 MONDO:0002815 True toxic myocarditis acute myocarditis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004853 MONDO:0016047 True gonococcal endophthalmia endophthalmitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004855 MONDO:0004857 True tenosynovitis tendinitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004855 MONDO:0006816 True tenosynovitis arthropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004856 MONDO:0003799 True rosacea conjunctivitis conjunctivitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004857 MONDO:0021167 True tendinitis myositis disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004858 MONDO:0005281 True occlusion of gallbladder gallbladder disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004859 MONDO:0005281 True hydrops of gallbladder gallbladder disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004861 MONDO:0005328 True ophthalmia nodosa eye disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004862 MONDO:0004860 True vitreous abscess vitreous disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004862 MONDO:0004863 True vitreous abscess purulent endophthalmitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004863 MONDO:0016047 True purulent endophthalmitis endophthalmitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004864 MONDO:0004865 True acute allergic mucoid otitis media blue drum syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004865 MONDO:0002738 True blue drum syndrome acute transudative otitis media UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004866 MONDO:0003276 True eustachian tube disorder middle ear disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004867 MONDO:0005087 True upper respiratory tract disorder respiratory system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004868 MONDO:0002515 True biliary tract disorder hepatobiliary disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004869 MONDO:0008638 True pelvic varices varicose disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004871 MONDO:0004872 True perianal hematoma hemorrhoid UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004872 MONDO:0004869 True hemorrhoid pelvic varices UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004873 MONDO:0004872 True internal hemorrhoid hemorrhoid UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004874 MONDO:0006816 True ganglion or cyst of synovium/tendon/bursa arthropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004875 MONDO:0002155 True xanthogranulomatous cholecystitis cholecystitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004876 MONDO:0005068 True myocardial stunning myocardial infarction UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004878 MONDO:0004379 True female breast upper-outer quadrant cancer female breast carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004879 MONDO:0004885 True senile atrophy of choroid choroidal sclerosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004880 MONDO:0005020 True bowel dysfunction intestinal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004881 MONDO:0021167 True myositis fibrosa myositis disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004882 MONDO:0004885 True angioid streaks of choroid choroidal sclerosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004882 MONDO:0011782 True angioid streaks of choroid angioid streaks UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004883 MONDO:0004885 True hereditary choroidal atrophy choroidal sclerosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004884 MONDO:0005328 True eye degenerative disorder eye disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004885 MONDO:0001898 True choroidal sclerosis optic choroid disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004885 MONDO:0004884 True choroidal sclerosis eye degenerative disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004886 MONDO:0004885 True diffuse secondary choroid atrophy choroidal sclerosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004888 MONDO:0004883 True partial circumpapillary choroid dystrophy hereditary choroidal atrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004891 MONDO:0004892 True hyperopia refractive error UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004892 MONDO:0005328 True refractive error eye disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004893 MONDO:0003432 True hypertropia strabismus UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004894 MONDO:0003432 True cyclotropia strabismus UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004895 MONDO:0004896 True accommodative esotropia esotropia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004896 MONDO:0003432 True esotropia strabismus UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004897 MONDO:0003432 True hypotropia strabismus UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004898 MONDO:0004883 True total circumpapillary dystrophy of choroid hereditary choroidal atrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004899 MONDO:0003432 True monofixation syndrome strabismus UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004900 MONDO:0002643 True peripheral vertigo vestibular disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004901 MONDO:0005395 True lingual-facial-buccal dyskinesia movement disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004902 MONDO:0003900 True interstitial keratitis connective tissue disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004903 MONDO:0003085 True deep keratitis keratitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004904 MONDO:0002175 True toxic maculopathy degeneration of macula and posterior pole UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004907 MONDO:0019278 True alopecia hair anomaly UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0004909 MONDO:0004184 True urethral gland abscess urethral disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004910 MONDO:0003767 True mitral valve prolapse mitral valve disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004911 MONDO:0004497 True cardiovascular syphilis tertiary syphilis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004913 MONDO:0004896 True alternating esotropia esotropia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004914 MONDO:0002254 True celiac artery stenosis from compression by median arcuate ligament of diaphragm syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004917 MONDO:0005800 True internal hordeolum hordeolum UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004918 MONDO:0004577 True central corneal ulcer corneal ulcer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004919 MONDO:0004920 True infected hydrocele hydrocele UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004920 MONDO:0003150 True hydrocele male reproductive system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004922 MONDO:0000592 True developmental coordination disorder specific developmental disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004923 MONDO:0001854 True chronic inflammation of lacrimal passage lacrimal apparatus disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004924 MONDO:0004923 True chronic canaliculitis chronic inflammation of lacrimal passage UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004925 MONDO:0004926 True chronic dacryocystitis dacryocystitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004927 MONDO:0004923 True dacryocystocele chronic inflammation of lacrimal passage UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004928 MONDO:0005833 True lymph node disorder lymphatic system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004929 MONDO:0004751 True constant exophthalmos disease of orbital part of eye adnexa UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004930 MONDO:0005041 True steroid-induced glaucoma glaucoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004931 MONDO:0004930 True residual stage corticosteroid-induced glaucoma steroid-induced glaucoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004932 MONDO:0004967 True null-cell leukemia acute lymphoblastic leukemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004933 MONDO:0005453 True hypoplastic left heart syndrome congenital heart disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004933 MONDO:0019820 True hypoplastic left heart syndrome univentricular cardiopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0004934 MONDO:0003900 True periostitis connective tissue disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004936 MONDO:0002654 True uterine inversion uterine disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004937 MONDO:0003916 True hypervitaminosis D overnutrition UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004938 MONDO:0002494 True substance dependence substance-related disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004939 MONDO:0005303 True hallucinogen dependence drug dependence UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004940 MONDO:0000922 True acute female pelvic peritonitis pelvic inflammatory disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004941 MONDO:0015691 True eosinophilia-myalgia syndrome hypereosinophilic syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004942 MONDO:0002889 True orbit lymphoma orbital cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004943 MONDO:0002889 True orbit sarcoma orbital cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004943 MONDO:0005089 True orbit sarcoma sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004944 MONDO:0004497 True neurosyphilis tertiary syphilis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004946 MONDO:0002908 True hypoglycemia glucose metabolism disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004947 MONDO:0004967 True B-cell acute lymphoblastic leukemia acute lymphoblastic leukemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0004948 MONDO:0001014 True B-cell chronic lymphocytic leukemia chronic leukemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004948 MONDO:0004949 True B-cell chronic lymphocytic leukemia neoplasm of mature B-cells UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004949 MONDO:0004095 True neoplasm of mature B-cells B-cell neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004950 MONDO:0001056 True gastric carcinoma gastric cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004948 MONDO:0017594 True B-cell chronic lymphocytic leukemia indolent B-cell non-Hodgkin lymphoma UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0004949 MONDO:0004095 True neoplasm of mature B-cells B-cell neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004950 MONDO:0001056 True gastric carcinoma gastric cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0004950 MONDO:0006181 True gastric carcinoma digestive system carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004952 MONDO:0005062 True Hodgkins lymphoma lymphoma UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004953 MONDO:0005590 True invasive ductal breast carcinoma breast ductal adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004952 MONDO:0005062 True Hodgkins lymphoma lymphoma UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004952 MONDO:0017343 True Hodgkins lymphoma Epstein-Barr virus-associated malignant lymphoproliferative disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0004953 MONDO:0005590 True invasive ductal breast carcinoma breast ductal adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0004953 MONDO:0006256 True invasive ductal breast carcinoma invasive breast carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0004956 MONDO:0005159 True metastatic prostate carcinoma prostate carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004957 MONDO:0004970 True mucinous adenocarcinoma adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004958 MONDO:0044710 True oral cavity squamous cell carcinoma lip and oral cavity squamous cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0004957 MONDO:0004970 True mucinous adenocarcinoma adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004958 MONDO:0044710 True oral cavity squamous cell carcinoma lip and oral cavity squamous cell carcinoma UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0004958 MONDO:0044925 True oral cavity squamous cell carcinoma oral cavity carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004959 MONDO:0004949 True plasma cell neoplasm neoplasm of mature B-cells UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004959 MONDO:0004949 True plasma cell neoplasm neoplasm of mature B-cells UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0004963 MONDO:0004967 True T-cell acute lymphoblastic leukemia acute lymphoblastic leukemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0004964 MONDO:0005062 True peripheral T-cell lymphoma, not otherwise specified lymphoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0004964 MONDO:0005169 True peripheral T-cell lymphoma, not otherwise specified neoplasm of mature T-cells or NK-cells UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0004965 MONDO:0004970 True acinar cell carcinoma adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004966 MONDO:0004298 True gastritis stomach disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004966 MONDO:0004298 True gastritis stomach disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0004967 MONDO:0003538 True acute lymphoblastic leukemia precursor lymphoblastic lymphoma/leukemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004967 MONDO:0005402 True acute lymphoblastic leukemia lymphoid leukemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004967 MONDO:0010643 True acute lymphoblastic leukemia acute leukemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004970 MONDO:0004993 True adenocarcinoma carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004967 MONDO:0005402 True acute lymphoblastic leukemia lymphoid leukemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004967 MONDO:0010643 True acute lymphoblastic leukemia acute leukemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004967 MONDO:0018908 True acute lymphoblastic leukemia non-Hodgkin lymphoma UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004970 MONDO:0004993 True adenocarcinoma carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0004970 MONDO:0024276 True adenocarcinoma glandular cell neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0004972 MONDO:0005626 True adenoma epithelial neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0004973 MONDO:0006074 True adenosquamous lung carcinoma adenosquamous carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004974 MONDO:0021072 True adrenal gland pheochromocytoma sympathetic paraganglioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0004974 MONDO:0021237 True adrenal gland pheochromocytoma adrenal medulla neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004975 MONDO:0001627 True Alzheimer disease dementia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004976 MONDO:0020128 True amyotrophic lateral sclerosis motor neuron disorder SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004977 MONDO:0000430 True angioimmunoblastic T-cell lymphoma mature T-cell and NK-cell non-Hodgkin lymphoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004980 MONDO:0002406 True atopic eczema dermatitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004981 MONDO:0007263 True atrial fibrillation cardiac rhythm disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004982 MONDO:0002356 True pancreatitis pancreas disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004985 MONDO:0005371 True bipolar disorder mood disorder SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004986 MONDO:0001187 True urinary bladder carcinoma urinary bladder cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004986 MONDO:0004993 True urinary bladder carcinoma carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004975 MONDO:0005574 True Alzheimer disease tauopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004976 MONDO:0020128 True amyotrophic lateral sclerosis motor neuron disorder SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004977 MONDO:0000430 True angioimmunoblastic T-cell lymphoma mature T-cell and NK-cell non-Hodgkin lymphoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004979 MONDO:0001358 True asthma bronchial disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004980 MONDO:0002406 True atopic eczema dermatitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004980 MONDO:0005271 True atopic eczema allergic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004982 MONDO:0002356 True pancreatitis pancreas disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004983 MONDO:0005372 True spermatogenic failure male infertility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004985 MONDO:0005371 True bipolar disorder mood disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004986 MONDO:0001187 True urinary bladder carcinoma urinary bladder cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004986 MONDO:0004993 True urinary bladder carcinoma carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0004987 MONDO:0006026 True urinary bladder neoplasm urinary bladder disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0004987 MONDO:0021066 True urinary bladder neoplasm urinary system neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004988 MONDO:0004970 True breast adenocarcinoma adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004988 MONDO:0004989 True breast adenocarcinoma breast carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004988 MONDO:0004970 True breast adenocarcinoma adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004988 MONDO:0004989 True breast adenocarcinoma breast carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0004989 MONDO:0004993 True breast carcinoma carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004989 MONDO:0007254 True breast carcinoma breast cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004991 MONDO:0005061 True minimally invasive lung adenocarcinoma lung adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004992 MONDO:0005070 True cancer neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004993 MONDO:0004992 True carcinoma cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004989 MONDO:0007254 True breast carcinoma breast cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004991 MONDO:0005061 True minimally invasive lung adenocarcinoma lung adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004992 MONDO:0005070 True cancer neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004993 MONDO:0004992 True carcinoma cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0004993 MONDO:0005626 True carcinoma epithelial neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004994 MONDO:0005267 True cardiomyopathy heart disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004996 MONDO:0004355 True childhood acute myeloid leukemia childhood leukemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004994 MONDO:0005267 True cardiomyopathy heart disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004996 MONDO:0004355 True childhood acute myeloid leukemia childhood leukemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0004996 MONDO:0018874 True childhood acute myeloid leukemia acute myeloid leukemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004997 MONDO:0000631 True chondroblastoma bone benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004997 MONDO:0024470 True chondroblastoma benign chondrogenic neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005001 MONDO:0004966 True chronic gastritis gastritis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005003 MONDO:0004982 True chronic pancreatitis pancreatitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005004 MONDO:0004970 True clear cell adenocarcinoma adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0005002 MONDO:0002267 True chronic obstructive pulmonary disease obstructive lung disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005004 MONDO:0004970 True clear cell adenocarcinoma adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0005005 MONDO:0005004 True clear cell renal carcinoma clear cell adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0005005 MONDO:0005549 True clear cell renal carcinoma renal cell adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005006 MONDO:0002930 True clear cell sarcoma of kidney kidney sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0005007 MONDO:0002271 True colon mucinous adenocarcinoma colon adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0005007 MONDO:0004957 True colon mucinous adenocarcinoma mucinous adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0005008 MONDO:0004970 True colorectal adenocarcinoma adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0005008 MONDO:0024331 True colorectal adenocarcinoma colorectal carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0005009 MONDO:0005252 True congestive heart failure heart failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005010 MONDO:0005267 True coronary artery disorder heart disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0005011 MONDO:0005265 True Crohn disease inflammatory bowel disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0005012 MONDO:0002898 True cutaneous melanoma skin cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0005012 MONDO:0005105 True cutaneous melanoma melanoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0005006 MONDO:0002930 True clear cell sarcoma of kidney kidney sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005007 MONDO:0002271 True colon mucinous adenocarcinoma colon adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005007 MONDO:0004957 True colon mucinous adenocarcinoma mucinous adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005008 MONDO:0004970 True colorectal adenocarcinoma adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005008 MONDO:0024331 True colorectal adenocarcinoma colorectal carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005010 MONDO:0000473 True coronary artery disorder arterial disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005011 MONDO:0005265 True Crohn disease inflammatory bowel disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005012 MONDO:0002898 True cutaneous melanoma skin cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005012 MONDO:0005105 True cutaneous melanoma melanoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0005012 MONDO:0021583 True cutaneous melanoma melanocytic skin neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005013 MONDO:0021054 True dedifferentiated chondrosarcoma bone sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0005015 MONDO:0001933 True diabetes mellitus endocrine pancreas disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0005015 MONDO:0002908 True diabetes mellitus glucose metabolism disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0005016 MONDO:0005300 True diabetic kidney disease chronic kidney disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005017 MONDO:0005036 True diffuse gastric adenocarcinoma gastric adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0005013 MONDO:0021054 True dedifferentiated chondrosarcoma bone sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005015 MONDO:0002908 True diabetes mellitus glucose metabolism disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005017 MONDO:0005036 True diffuse gastric adenocarcinoma gastric adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0005017 MONDO:0021652 True diffuse gastric adenocarcinoma diffuse type adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005020 MONDO:0004335 True intestinal disorder digestive system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0005019 MONDO:0005100 True diffuse scleroderma systemic sclerosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005020 MONDO:0004335 True intestinal disorder digestive system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005021 MONDO:0000591 True dilated cardiomyopathy intrinsic cardiomyopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0005023 MONDO:0003218 True ductal breast carcinoma in situ adenocarcinoma in situ UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0005023 MONDO:0004007 True ductal breast carcinoma in situ breast intraductal proliferative lesion UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0005023 MONDO:0004658 True ductal breast carcinoma in situ breast carcinoma in situ UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0005023 MONDO:0004658 True ductal breast carcinoma in situ breast carcinoma in situ UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0005023 MONDO:0005590 True ductal breast carcinoma in situ breast ductal adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0005025 MONDO:0000470 True endocarditis endocardium disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0005026 MONDO:0004970 True endometrioid adenocarcinoma adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005027 MONDO:0005560 True epilepsy brain disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0005028 MONDO:0004970 True esophageal adenocarcinoma adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0005028 MONDO:0019086 True esophageal adenocarcinoma carcinoma of esophagus UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0005029 MONDO:0020076 True essential thrombocythemia myeloproliferative neoplasm UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0005027 MONDO:0005560 True epilepsy brain disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005028 MONDO:0004970 True esophageal adenocarcinoma adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005028 MONDO:0019086 True esophageal adenocarcinoma carcinoma of esophagus UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005029 MONDO:0020076 True essential thrombocythemia myeloproliferative neoplasm UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0005031 MONDO:0006209 True fibromatosis fibroblastic neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005032 MONDO:0004972 True follicular thyroid adenoma adenoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0005032 MONDO:0004972 True follicular thyroid adenoma adenoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0005032 MONDO:0006107 True follicular thyroid adenoma benign thyroid gland neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005032 MONDO:0036976 True follicular thyroid adenoma benign epithelial neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005033 MONDO:0002366 True ganglioneuroma autonomic nervous system neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0005034 MONDO:0015447 True thyroid gland follicular carcinoma differentiated thyroid carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0005034 MONDO:0024622 True thyroid gland follicular carcinoma thyroid gland adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0005033 MONDO:0016729 True ganglioneuroma mixed neuronal-glial tumor UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0005034 MONDO:0015447 True thyroid gland follicular carcinoma differentiated thyroid carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005034 MONDO:0024622 True thyroid gland follicular carcinoma thyroid gland adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0005035 MONDO:0006316 True ganglioneuroblastoma neuroblastic tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005036 MONDO:0004950 True gastric adenocarcinoma gastric carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0005036 MONDO:0004970 True gastric adenocarcinoma adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0005036 MONDO:0004950 True gastric adenocarcinoma gastric carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005036 MONDO:0004970 True gastric adenocarcinoma adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0005037 MONDO:0005036 True gastric intestinal type adenocarcinoma gastric adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005037 MONDO:0006254 True gastric intestinal type adenocarcinoma intestinal type adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005040 MONDO:0005070 True germ cell tumor neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0005041 MONDO:0005328 True glaucoma eye disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0005048 MONDO:0019954 True pancreatic insulin-producing neuroendocrine tumor pancreatic neuroendocrine tumor UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0005040 MONDO:0005070 True germ cell tumor neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005041 MONDO:0005328 True glaucoma eye disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005044 MONDO:0000473 True hypertensive disorder arterial disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005045 MONDO:0000591 True hypertrophic cardiomyopathy intrinsic cardiomyopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005047 MONDO:0005039 True infertility disorder reproductive system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005048 MONDO:0019954 True pancreatic insulin-producing neuroendocrine tumor pancreatic neuroendocrine tumor UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005050 MONDO:0006306 True invasive ductal and lobular carcinoma mixed lobular and ductal breast carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005051 MONDO:0000552 True invasive lobular breast carcinoma breast lobular carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0005051 MONDO:0000552 True invasive lobular breast carcinoma breast lobular carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0005051 MONDO:0006256 True invasive lobular breast carcinoma invasive breast carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005052 MONDO:0002254 True irritable bowel syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0005052 MONDO:0005020 True irritable bowel syndrome intestinal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0005056 MONDO:0005096 True keratinizing squamous cell carcinoma squamous cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0005052 MONDO:0005020 True irritable bowel syndrome intestinal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005053 MONDO:0005385 True ischemic disease vascular disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005055 MONDO:0005108 True Kaposi's sarcoma viral infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005055 MONDO:0015157 True Kaposi's sarcoma human herpesvirus 8-related tumor UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0005056 MONDO:0005096 True keratinizing squamous cell carcinoma squamous cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0005057 MONDO:0002120 True large cell neuroendocrine carcinoma neuroendocrine carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0005057 MONDO:0005232 True large cell neuroendocrine carcinoma large cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0005058 MONDO:0002924 True leiomyosarcoma smooth muscle cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0005058 MONDO:0002924 True leiomyosarcoma smooth muscle cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005058 MONDO:0017345 True leiomyosarcoma Epstein-Barr virus-associated mesenchymal tumor UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0005058 MONDO:0018078 True leiomyosarcoma soft tissue sarcoma UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005059 MONDO:0044881 True leukemia hematopoietic and lymphoid cell neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005061 MONDO:0004970 True lung adenocarcinoma adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0005061 MONDO:0005233 True lung adenocarcinoma non-small cell lung carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0005060 MONDO:0018078 True liposarcoma soft tissue sarcoma UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0005061 MONDO:0004970 True lung adenocarcinoma adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005061 MONDO:0005233 True lung adenocarcinoma non-small cell lung carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0005062 MONDO:0005157 True lymphoma lymphoid neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0005062 MONDO:0015757 True lymphoma lymphoid hemopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005063 MONDO:0004953 True medullary breast carcinoma invasive ductal breast carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0005065 MONDO:0006856 True mesothelioma mesothelial neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005067 MONDO:0010434 True monophasic synovial sarcoma synovial sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0005068 MONDO:0024643 True myocardial infarction myocardial disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0005067 MONDO:0010434 True monophasic synovial sarcoma synovial sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0005072 MONDO:0006316 True neuroblastoma neuroblastic tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005074 MONDO:0002512 True papillary cystadenocarcinoma papillary adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0005074 MONDO:0005596 True papillary cystadenocarcinoma cystadenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0005074 MONDO:0005596 True papillary cystadenocarcinoma cystadenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0005074 MONDO:0006349 True papillary cystadenocarcinoma papillary cystic neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005075 MONDO:0002512 True thyroid gland papillary carcinoma papillary adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0005075 MONDO:0015447 True thyroid gland papillary carcinoma differentiated thyroid carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0005075 MONDO:0024622 True thyroid gland papillary carcinoma thyroid gland adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0005076 MONDO:0002635 True periodontitis periodontal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0005075 MONDO:0015447 True thyroid gland papillary carcinoma differentiated thyroid carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005075 MONDO:0024622 True thyroid gland papillary carcinoma thyroid gland adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005076 MONDO:0002635 True periodontitis periodontal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0005078 MONDO:0021045 True phyllodes tumor fibroepithelial neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005081 MONDO:0045048 True preeclampsia toxemia of pregnancy UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005082 MONDO:0004970 True prostate adenocarcinoma adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0005082 MONDO:0005159 True prostate adenocarcinoma prostate carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0005083 MONDO:0002406 True psoriasis dermatitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0005080 MONDO:0002405 True portal hypertension hepatic vascular disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005082 MONDO:0004970 True prostate adenocarcinoma adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005082 MONDO:0005159 True prostate adenocarcinoma prostate carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005083 MONDO:0005046 True psoriasis immune system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0005085 MONDO:0006105 True pterygium benign conjunctival neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005089 MONDO:0004992 True sarcoma cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0005092 MONDO:0004970 True signet ring cell carcinoma adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0005094 MONDO:0002789 True hemangiopericytoma hemangiopericytic tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0005095 MONDO:0006816 True spondyloarthropathy arthropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0005086 MONDO:0005206 True renal cell carcinoma renal carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005089 MONDO:0004992 True sarcoma cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005090 MONDO:0005485 True schizophrenia psychotic disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005091 MONDO:0020753 True severe acute respiratory syndrome Orthocoronavirinae infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005092 MONDO:0004970 True signet ring cell carcinoma adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005093 MONDO:0002051 True skin disorder integumentary system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005094 MONDO:0002789 True hemangiopericytoma hemangiopericytic tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005095 MONDO:0006816 True spondyloarthropathy arthropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0005096 MONDO:0002532 True squamous cell carcinoma squamous cell neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0005096 MONDO:0004993 True squamous cell carcinoma carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0005097 MONDO:0005096 True squamous cell lung carcinoma squamous cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0005097 MONDO:0005138 True squamous cell lung carcinoma lung carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0005098 MONDO:0011057 True stroke disorder cerebrovascular disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005100 MONDO:0019340 True systemic sclerosis scleroderma UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0005096 MONDO:0004993 True squamous cell carcinoma carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005097 MONDO:0005096 True squamous cell lung carcinoma squamous cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005097 MONDO:0005138 True squamous cell lung carcinoma lung carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005100 MONDO:0019340 True systemic sclerosis scleroderma UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005101 MONDO:0005292 True ulcerative colitis colitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0005102 MONDO:0002397 True undifferentiated (embryonal) sarcoma liver sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0005103 MONDO:0005060 True well-differentiated liposarcoma liposarcoma UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005104 MONDO:0005089 True aJCC grade 1 sarcoma sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005105 MONDO:0021143 True melanoma melanocytic neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005106 MONDO:0044983 True lipoma benign lipomatous neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005108 MONDO:0005550 True viral infectious disease infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0005110 MONDO:0004994 True idiopathic cardiomyopathy cardiomyopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0005108 MONDO:0005550 True viral infectious disease infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0005112 MONDO:0003308 True malignant pleural mesothelioma pleural mesothelioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0005112 MONDO:0006292 True malignant pleural mesothelioma malignant mesothelioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0005112 MONDO:0006294 True malignant pleural mesothelioma pleural cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0005113 MONDO:0005550 True bacterial infectious disease infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0005116 MONDO:0005113 True Whipple disease bacterial infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0005124 MONDO:0020590 True leprosy mycobacterial infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005125 MONDO:0005124 True borderline leprosy leprosy SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0005126 MONDO:0005124 True tuberculoid leprosy leprosy SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0005127 MONDO:0005124 True lepromatous leprosy leprosy SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0005129 MONDO:0001176 True cataract lens disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0005130 MONDO:0020598 True celiac disease malabsorption syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005131 MONDO:0002974 True cervical carcinoma cervical cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0005135 MONDO:0005550 True parasitic infectious disease infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0005136 MONDO:0002428 True malaria protozoa infectious disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0005138 MONDO:0004993 True lung carcinoma carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0005138 MONDO:0008903 True lung carcinoma lung cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0005140 MONDO:0018364 True ovarian carcinoma malignant epithelial tumor of ovary UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0005146 MONDO:0005379 True post-traumatic stress disorder neurotic disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0005147 MONDO:0005015 True type 1 diabetes mellitus diabetes mellitus UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0005148 MONDO:0005015 True type 2 diabetes mellitus diabetes mellitus UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0005153 MONDO:0004970 True cervical adenocarcinoma adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0005153 MONDO:0005131 True cervical adenocarcinoma cervical carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0005154 MONDO:0002515 True liver disorder hepatobiliary disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0005155 MONDO:0005154 True cirrhosis of liver liver disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0005156 MONDO:0002602 True encephalomyelitis central nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0005156 MONDO:0021166 True encephalomyelitis inflammatory disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0005112 MONDO:0006294 True malignant pleural mesothelioma pleural cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005113 MONDO:0005550 True bacterial infectious disease infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005116 MONDO:0005020 True Whipple disease intestinal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005119 MONDO:0000314 True anthrax infection primary bacterial infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005124 MONDO:0000314 True leprosy primary bacterial infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005125 MONDO:0005124 True borderline leprosy leprosy SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005126 MONDO:0005124 True tuberculoid leprosy leprosy SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005127 MONDO:0005124 True lepromatous leprosy leprosy SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005129 MONDO:0001176 True cataract lens disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005129 MONDO:0003847 True cataract hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005130 MONDO:0000588 True celiac disease autoimmune disorder of gastrointestinal tract UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005131 MONDO:0002974 True cervical carcinoma cervical cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005135 MONDO:0005550 True parasitic infectious disease infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005136 MONDO:0002428 True malaria protozoa infectious disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005138 MONDO:0004993 True lung carcinoma carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005138 MONDO:0008903 True lung carcinoma lung cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005139 MONDO:0011122 True morbid obesity obesity disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005140 MONDO:0018364 True ovarian carcinoma malignant epithelial tumor of ovary UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005145 MONDO:0004976 True sporadic amyotrophic lateral sclerosis amyotrophic lateral sclerosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005147 MONDO:0000569 True type 1 diabetes mellitus autoimmune disorder of endocrine system UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005147 MONDO:0005015 True type 1 diabetes mellitus diabetes mellitus UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005148 MONDO:0005015 True type 2 diabetes mellitus diabetes mellitus UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005149 MONDO:0005044 True pulmonary hypertension hypertensive disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005150 MONDO:0002175 True age-related macular degeneration degeneration of macula and posterior pole UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005152 MONDO:0003381 True hypopituitarism pituitary gland disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005153 MONDO:0004970 True cervical adenocarcinoma adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005153 MONDO:0005131 True cervical adenocarcinoma cervical carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005154 MONDO:0002515 True liver disorder hepatobiliary disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005155 MONDO:0005154 True cirrhosis of liver liver disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005156 MONDO:0002602 True encephalomyelitis central nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0005157 MONDO:0044881 True lymphoid neoplasm hematopoietic and lymphoid cell neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005159 MONDO:0004993 True prostate carcinoma carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0005159 MONDO:0008315 True prostate carcinoma prostate cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0005159 MONDO:0004993 True prostate carcinoma carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005159 MONDO:0008315 True prostate carcinoma prostate cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005160 MONDO:0005561 True aortic aneurysm aortic disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0005164 MONDO:0006209 True fibrosarcoma fibroblastic neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005165 MONDO:0005070 True benign neoplasm neoplasm SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0005164 MONDO:0018078 True fibrosarcoma soft tissue sarcoma UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0005165 MONDO:0005070 True benign neoplasm neoplasm SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0005166 MONDO:0000631 True osteoma bone benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005167 MONDO:0006209 True fibroma fibroblastic neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005169 MONDO:0024615 True neoplasm of mature T-cells or NK-cells T-cell and NK-cell neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005170 MONDO:0044881 True myeloid neoplasm hematopoietic and lymphoid cell neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0005173 MONDO:0000611 True actinic keratosis pre-malignant neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0005177 MONDO:0002369 True serous cystadenoma cystadenoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005178 MONDO:0005578 True osteoarthritis arthritic joint disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0005178 MONDO:0005578 True osteoarthritis arthritic joint disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005181 MONDO:0009637 True progressive external ophthalmoplegia inborn mitochondrial myopathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0005183 MONDO:0002369 True ovarian cystadenoma cystadenoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0005184 MONDO:0006047 True pancreatic ductal adenocarcinoma pancreatic adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0005185 MONDO:0008383 True chronic childhood arthritis rheumatoid arthritis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005186 MONDO:0005303 True cocaine dependence drug dependence UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0005184 MONDO:0006047 True pancreatic ductal adenocarcinoma pancreatic adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005186 MONDO:0005303 True cocaine dependence drug dependence UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0005188 MONDO:0005055 True iatrogenic Kaposi's sarcoma Kaposi's sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0005190 MONDO:0002273 True macroglobulinemia plasma protein metabolism disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0005191 MONDO:0005105 True metastatic melanoma melanoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005192 MONDO:0002116 True exocrine pancreatic carcinoma malignant exocrine pancreas neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0005192 MONDO:0002116 True exocrine pancreatic carcinoma malignant exocrine pancreas neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0005192 MONDO:0006181 True exocrine pancreatic carcinoma digestive system carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0005193 MONDO:0021259 True prostate intraepithelial neoplasia prostate neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005193 MONDO:0024474 True prostate intraepithelial neoplasia intraepithelial neoplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005197 MONDO:0003393 True thymus neoplasm thymus gland disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005198 MONDO:0002195 True vulvar intraepithelial neoplasia vulvar squamous neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005206 MONDO:0002367 True renal carcinoma kidney cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0005206 MONDO:0004993 True renal carcinoma carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0005201 MONDO:0000591 True restrictive cardiomyopathy intrinsic cardiomyopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005206 MONDO:0002367 True renal carcinoma kidney cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005206 MONDO:0004993 True renal carcinoma carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0005207 MONDO:0002872 True choriocarcinoma trophoblastic neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0005208 MONDO:0002971 True amelanotic skin melanoma amelanotic melanoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0005208 MONDO:0005012 True amelanotic skin melanoma cutaneous melanoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0005210 MONDO:0005089 True uterine corpus sarcoma sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0005211 MONDO:0002752 True ovarian serous adenocarcinoma ovarian adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0005208 MONDO:0005012 True amelanotic skin melanoma cutaneous melanoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005210 MONDO:0005089 True uterine corpus sarcoma sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005210 MONDO:0006003 True uterine corpus sarcoma uterine corpus cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005211 MONDO:0002752 True ovarian serous adenocarcinoma ovarian adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0005211 MONDO:0005278 True ovarian serous adenocarcinoma serous adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0005211 MONDO:0024885 True ovarian serous adenocarcinoma malignant ovarian serous tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005214 MONDO:0001528 True vulva sarcoma vulva cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0005212 MONDO:0018078 True rhabdomyosarcoma soft tissue sarcoma UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0005214 MONDO:0001528 True vulva sarcoma vulva cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0005214 MONDO:0018078 True vulva sarcoma soft tissue sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005215 MONDO:0001528 True vulvar carcinoma vulva cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0005215 MONDO:0004993 True vulvar carcinoma carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0005215 MONDO:0001528 True vulvar carcinoma vulva cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005215 MONDO:0004993 True vulvar carcinoma carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0005216 MONDO:0002038 True hypopharyngeal carcinoma head and neck carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005216 MONDO:0005806 True hypopharyngeal carcinoma hypopharynx cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005216 MONDO:0021345 True hypopharyngeal carcinoma carcinoma of pharynx UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005219 MONDO:0002657 True breast fibrocystic disease breast disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0005221 MONDO:0005519 True renal pelvis urothelial carcinoma renal pelvis carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0005219 MONDO:0002657 True breast fibrocystic disease breast disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005220 MONDO:0005086 True collecting duct carcinoma renal cell carcinoma UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005221 MONDO:0005519 True renal pelvis urothelial carcinoma renal pelvis carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0005221 MONDO:0020654 True renal pelvis urothelial carcinoma renal pelvis/ureter urothelial carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005223 MONDO:0015667 True acute myeloid leukemia with minimal differentiation acute myeloid leukemia by FAB classification UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005224 MONDO:0015667 True acute myeloblastic leukemia without maturation acute myeloid leukemia by FAB classification UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005227 MONDO:0005550 True abscess infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005231 MONDO:0006011 True hepatitis C virus infection viral hepatitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0005232 MONDO:0004993 True large cell carcinoma carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0005233 MONDO:0005138 True non-small cell lung carcinoma lung carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0005235 MONDO:0009693 True smoldering plasma cell myeloma plasma cell myeloma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0005240 MONDO:0002118 True kidney disorder urinary system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0005242 MONDO:0005113 True empyema bacterial infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005244 MONDO:0003620 True peripheral neuropathy peripheral nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0005252 MONDO:0005267 True heart failure heart disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005258 MONDO:0000594 True autism spectrum disorder pervasive developmental disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0005259 MONDO:0005258 True Asperger syndrome autism spectrum disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0005260 MONDO:0005258 True autism autism spectrum disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0005264 MONDO:0005299 True transient ischemic attack brain ischemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0005265 MONDO:0005020 True inflammatory bowel disease intestinal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0005266 MONDO:0002311 True diabetic retinopathy retinal vascular disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0005267 MONDO:0004995 True heart disorder cardiovascular disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0005271 MONDO:0000605 True allergic disease hypersensitivity reaction disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0005272 MONDO:0018881 True myelodysplastic syndrome with single lineage dysplasia myelodysplastic syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005277 MONDO:0043218 True migraine disorder neurovascular disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0005223 MONDO:0015667 True acute myeloid leukemia with minimal differentiation acute myeloid leukemia by FAB classification UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0005224 MONDO:0015667 True acute myeloblastic leukemia without maturation acute myeloid leukemia by FAB classification UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0005229 MONDO:0005113 True bacterial infectious disease with sepsis bacterial infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005232 MONDO:0004993 True large cell carcinoma carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005233 MONDO:0005138 True non-small cell lung carcinoma lung carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005235 MONDO:0009693 True smoldering plasma cell myeloma plasma cell myeloma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005240 MONDO:0002118 True kidney disorder urinary system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005244 MONDO:0003620 True peripheral neuropathy peripheral nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005246 MONDO:0002614 True osteomyelitis bone inflammation disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005258 MONDO:0000594 True autism spectrum disorder pervasive developmental disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005259 MONDO:0005258 True Asperger syndrome autism spectrum disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005260 MONDO:0005258 True autism autism spectrum disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005264 MONDO:0005299 True transient ischemic attack brain ischemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005265 MONDO:0005020 True inflammatory bowel disease intestinal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005266 MONDO:0002311 True diabetic retinopathy retinal vascular disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005267 MONDO:0004995 True heart disorder cardiovascular disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005269 MONDO:0000473 True carotid artery disorder arterial disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005269 MONDO:0011057 True carotid artery disorder cerebrovascular disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005272 MONDO:0018881 True myelodysplastic syndrome with single lineage dysplasia myelodysplastic syndrome UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0005275 MONDO:0000270 True lung disorder lower respiratory tract disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005276 MONDO:0002220 True dental caries tooth hard tissue disease UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005277 MONDO:0005560 True migraine disorder brain disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0005278 MONDO:0004970 True serous adenocarcinoma adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0005280 MONDO:0003105 True prostatitis prostate disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0005281 MONDO:0002515 True gallbladder disorder hepatobiliary disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0005282 MONDO:0004670 True cutaneous lupus erythematosus lupus erythematosus UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0005283 MONDO:0005328 True retinal disorder eye disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0005279 MONDO:0000473 True pulmonary embolism arterial disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005280 MONDO:0003105 True prostatitis prostate disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005282 MONDO:0004670 True cutaneous lupus erythematosus lupus erythematosus UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005283 MONDO:0005071 True retinal disorder nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005283 MONDO:0005328 True retinal disorder eye disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0005286 MONDO:0005586 True palatal neoplasm head and neck neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005286 MONDO:0021245 True palatal neoplasm oral cavity neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005289 MONDO:0001735 True paranasal sinus neoplasm paranasal sinus disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0005294 MONDO:0005385 True peripheral vascular disease vascular disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0005296 MONDO:0003406 True sleep apnea syndrome sleep-wake disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0005296 MONDO:0005087 True sleep apnea syndrome respiratory system disorder UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0005297 MONDO:0004184 True urethritis urethral disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0005298 MONDO:0800486 True osteoporosis metabolic bone disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005299 MONDO:0011057 True brain ischemia cerebrovascular disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0005300 MONDO:0005240 True chronic kidney disease kidney disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0005302 MONDO:0007743 True attention deficit hyperactivity disorder, inattentive type attention deficit-hyperactivity disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005303 MONDO:0004938 True drug dependence substance dependence UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0005306 MONDO:0005095 True ankylosing spondylitis spondyloarthropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0005311 MONDO:0002277 True atherosclerosis arteriosclerosis disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0005313 MONDO:0005020 True necrotizing enterocolitis intestinal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005313 MONDO:0009172 True necrotizing enterocolitis enterocolitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005314 MONDO:0005301 True relapsing-remitting multiple sclerosis multiple sclerosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0005315 MONDO:0021178 True bone fracture injury UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005316 MONDO:0023557 True bacterial vaginosis infective vaginitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005324 MONDO:0011786 True seasonal allergic rhinitis allergic rhinitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0005289 MONDO:0001735 True paranasal sinus neoplasm paranasal sinus disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005291 MONDO:0006693 True brain aneurysm cerebral arterial disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005292 MONDO:0005265 True colitis inflammatory bowel disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005294 MONDO:0005385 True peripheral vascular disease vascular disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005295 MONDO:0002277 True intermittent vascular claudication arteriosclerosis disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005296 MONDO:0003406 True sleep apnea syndrome sleep-wake disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005297 MONDO:0004184 True urethritis urethral disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005298 MONDO:0000837 True osteoporosis bone resorption disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005299 MONDO:0005053 True brain ischemia ischemic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005299 MONDO:0011057 True brain ischemia cerebrovascular disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005300 MONDO:0005240 True chronic kidney disease kidney disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005301 MONDO:0000568 True multiple sclerosis autoimmune disorder of central nervous system UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005301 MONDO:0002562 True multiple sclerosis demyelinating disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005303 MONDO:0004938 True drug dependence substance dependence UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005304 MONDO:0004868 True biliary tract neoplasm biliary tract disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005308 MONDO:0003847 True ciliopathy hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005311 MONDO:0002277 True atherosclerosis arteriosclerosis disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005314 MONDO:0005301 True relapsing-remitting multiple sclerosis multiple sclerosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005321 MONDO:0000766 True Fuchs' endothelial dystrophy corneal endothelial dystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005321 MONDO:0020214 True Fuchs' endothelial dystrophy posterior corneal dystrophy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0005333 MONDO:0003240 True hyperthyroxinemia thyroid gland disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0005335 MONDO:0021118 True colorectal neoplasm intestinal neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005338 MONDO:0005041 True open-angle glaucoma glaucoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0005338 MONDO:0005041 True open-angle glaucoma glaucoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0005341 MONDO:0020804 True skin basal cell carcinoma basal cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005342 MONDO:0002462 True IgA glomerulonephritis glomerulonephritis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0005344 MONDO:0006011 True hepatitis B virus infection viral hepatitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0005345 MONDO:0005039 True hypospadias reproductive system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0005348 MONDO:0006603 True keloid reactive cutaneous fibrous lesion UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005351 MONDO:0005451 True anorexia nervosa eating disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0005357 MONDO:0005429 True Creutzfeldt Jacob disease prion disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0005358 MONDO:0005502 True Dengue hemorrhagic fever dengue disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0005361 MONDO:0001409 True eosinophilic esophagitis esophagitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0005364 MONDO:0005397 True Graves disease goiter UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0005365 MONDO:0021945 True hearing loss disorder hearing disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0005342 MONDO:0002462 True IgA glomerulonephritis glomerulonephritis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005349 MONDO:0002467 True otosclerosis inner ear disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005350 MONDO:0005160 True abdominal aortic aneurysm aortic aneurysm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005351 MONDO:0005451 True anorexia nervosa eating disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005352 MONDO:0000592 True conduct disorder specific developmental disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005355 MONDO:0006715 True coronary restenosis coronary stenosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005356 MONDO:0005010 True coronary vasospasm coronary artery disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005357 MONDO:0005429 True Creutzfeldt Jacob disease prion disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005358 MONDO:0005502 True Dengue hemorrhagic fever dengue disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005361 MONDO:0001409 True eosinophilic esophagitis esophagitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005362 MONDO:0002134 True erectile dysfunction physiological sexual disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005367 MONDO:0005530 True heroin dependence opiate dependence UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0005369 MONDO:0019496 True carcinoid tumor neuroendocrine neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005372 MONDO:0003150 True male infertility male reproductive system disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0005374 MONDO:0002334 True bone marrow neoplasm hematopoietic and lymphoid system neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0005374 MONDO:0003225 True bone marrow neoplasm bone marrow disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0005372 MONDO:0003150 True male infertility male reproductive system disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005374 MONDO:0002334 True bone marrow neoplasm hematopoietic and lymphoid system neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005374 MONDO:0003225 True bone marrow neoplasm bone marrow disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0005375 MONDO:0004821 True nasopharyngeal neoplasm nasopharyngeal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005375 MONDO:0005586 True nasopharyngeal neoplasm head and neck neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005375 MONDO:0021246 True nasopharyngeal neoplasm pharynx neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005376 MONDO:0002462 True membranous glomerulonephritis glomerulonephritis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0005377 MONDO:0002254 True nephrotic syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0005379 MONDO:0005618 True neurotic disorder anxiety disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0005382 MONDO:0800486 True bone Paget disease metabolic bone disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005383 MONDO:0005618 True panic disorder anxiety disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0005384 MONDO:0005027 True focal epilepsy epilepsy UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0005385 MONDO:0004995 True vascular disorder cardiovascular disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0005386 MONDO:0005294 True peripheral arterial disease peripheral vascular disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0005387 MONDO:0005558 True primary ovarian failure ovarian disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0005391 MONDO:0005071 True restless legs syndrome nervous system disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0005393 MONDO:0005066 True gout metabolic disease UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0005395 MONDO:0005071 True movement disorder nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0005397 MONDO:0003240 True goiter thyroid gland disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0005399 MONDO:0005385 True venous thromboembolism vascular disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0005376 MONDO:0002462 True membranous glomerulonephritis glomerulonephritis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005377 MONDO:0002331 True nephrotic syndrome nephrosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005379 MONDO:0005618 True neurotic disorder anxiety disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005380 MONDO:0005381 True osteonecrosis bone disorder UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005382 MONDO:0002185 True bone Paget disease hyperostosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005383 MONDO:0005618 True panic disorder anxiety disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005384 MONDO:0005027 True focal epilepsy epilepsy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005385 MONDO:0004995 True vascular disorder cardiovascular disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005386 MONDO:0000473 True peripheral arterial disease arterial disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005387 MONDO:0005558 True primary ovarian failure ovarian disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005391 MONDO:0005071 True restless legs syndrome nervous system disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005392 MONDO:0000836 True scoliosis disease of bone structure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005394 MONDO:0011057 True brain infarction cerebrovascular disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005395 MONDO:0005071 True movement disorder nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005396 MONDO:0005160 True thoracic aortic aneurysm aortic aneurysm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005397 MONDO:0003240 True goiter thyroid gland disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0005401 MONDO:0005335 True colonic neoplasm colorectal neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005402 MONDO:0005059 True lymphoid leukemia leukemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0005402 MONDO:0005059 True lymphoid leukemia leukemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0005402 MONDO:0005157 True lymphoid leukemia lymphoid neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005404 MONDO:0002254 True myalgic encephalomeyelitis/chronic fatigue syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0005404 MONDO:0021094 True myalgic encephalomeyelitis/chronic fatigue syndrome immunodeficiency disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005406 MONDO:0005015 True gestational diabetes diabetes mellitus UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0005411 MONDO:0002516 True gallbladder cancer digestive system cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0005404 MONDO:0002254 True myalgic encephalomeyelitis/chronic fatigue syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005405 MONDO:0004979 True childhood onset asthma asthma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005406 MONDO:0005015 True gestational diabetes diabetes mellitus UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005411 MONDO:0002516 True gallbladder cancer digestive system cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0005411 MONDO:0021253 True gallbladder cancer gallbladder neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005412 MONDO:0004247 True duodenal ulcer peptic ulcer disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0005420 MONDO:0003240 True hypothyroidism thyroid gland disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0005429 MONDO:0005560 True prion disease brain disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0005429 MONDO:0024619 True prion disease central nervous system infectious disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0005412 MONDO:0004247 True duodenal ulcer peptic ulcer disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005420 MONDO:0003240 True hypothyroidism thyroid gland disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005424 MONDO:0019297 True elephantiasis lymphedema UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005425 MONDO:0005424 True podoconiosis elephantiasis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005429 MONDO:0005560 True prion disease brain disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0005438 MONDO:0001082 True metastatic malignant neoplasm in the lymph nodes lymph node cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005439 MONDO:0037748 True familial hypercholesterolemia hyperlipoproteinemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005441 MONDO:0003276 True otitis media middle ear disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0005445 MONDO:0011989 True visceral leishmaniasis leishmaniasis SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0005446 MONDO:0011989 True cutaneous leishmaniasis leishmaniasis SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0005447 MONDO:0005836 True testicular cancer male reproductive organ cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0005439 MONDO:0001336 True familial hypercholesterolemia familial hyperlipidemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005441 MONDO:0003276 True otitis media middle ear disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005445 MONDO:0011989 True visceral leishmaniasis leishmaniasis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005446 MONDO:0011989 True cutaneous leishmaniasis leishmaniasis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005447 MONDO:0005836 True testicular cancer male reproductive organ cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0005447 MONDO:0021348 True testicular cancer neoplasm of testis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005451 MONDO:0002025 True eating disorder psychiatric disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0005451 MONDO:0005137 True eating disorder nutritional disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0005452 MONDO:0005451 True bulimia nervosa eating disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0005453 MONDO:0005267 True congenital heart disease heart disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0005453 MONDO:0024239 True congenital heart disease congenital anomaly of cardiovascular system UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0005451 MONDO:0002025 True eating disorder psychiatric disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005452 MONDO:0005451 True bulimia nervosa eating disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005453 MONDO:0005267 True congenital heart disease heart disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0005454 MONDO:0019496 True lung neuroendocrine neoplasm neuroendocrine neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0005454 MONDO:0021117 True lung neuroendocrine neoplasm lung neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005460 MONDO:0005812 True swine influenza influenza UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0005461 MONDO:0002447 True endometrium adenocarcinoma endometrial carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0005461 MONDO:0004970 True endometrium adenocarcinoma adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0005459 MONDO:0000940 True human African trypanosomiasis trypanosomiasis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005460 MONDO:0005812 True swine influenza influenza UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005461 MONDO:0002447 True endometrium adenocarcinoma endometrial carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005461 MONDO:0004970 True endometrium adenocarcinoma adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0005462 MONDO:0005564 True primitive neuroectodermal tumor embryonal neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0005462 MONDO:0021193 True primitive neuroectodermal tumor neuroepithelial neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005464 MONDO:0008375 True rhegmatogenous retinal detachment retinal detachment UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005473 MONDO:0006816 True temporomandibular joint disorder arthropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005475 MONDO:0005277 True migraine with aura migraine disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0005477 MONDO:0007263 True ventricular tachycardia cardiac rhythm disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005479 MONDO:0007263 True atrial tachycardia cardiac rhythm disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005480 MONDO:0002406 True contact dermatitis dermatitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0005483 MONDO:0004907 True chemotherapy-induced alopecia alopecia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0005475 MONDO:0005277 True migraine with aura migraine disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005480 MONDO:0002406 True contact dermatitis dermatitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0005484 MONDO:0005335 True colorectal adenoma colorectal neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005484 MONDO:0006180 True colorectal adenoma digestive system adenoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0005492 MONDO:0002406 True urticaria dermatitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0005505 MONDO:0016729 True dysembryoplastic neuroepithelial tumor mixed neuronal-glial tumor UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0005485 MONDO:0002039 True psychotic disorder cognitive disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005486 MONDO:0006999 True tooth agenesis tooth disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005487 MONDO:0005485 True schizoaffective disorder psychotic disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005489 MONDO:0001697 True dyslexia reading disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005495 MONDO:0005151 True adrenal gland disorder endocrine system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005496 MONDO:0003059 True bile duct carcinoma bile duct cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005497 MONDO:0005381 True bone development disease bone disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005498 MONDO:0000314 True botulism primary bacterial infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005499 MONDO:0001657 True brain glioma brain cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005500 MONDO:0015286 True congenital disorder of glycosylation type I congenital disorder of glycosylation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005501 MONDO:0015286 True congenital disorder of glycosylation type II congenital disorder of glycosylation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005504 MONDO:0000314 True diphtheria primary bacterial infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005505 MONDO:0016729 True dysembryoplastic neuroepithelial tumor mixed neuronal-glial tumor UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005505 MONDO:0021211 True dysembryoplastic neuroepithelial tumor brain neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005506 MONDO:0002090 True eccrine sweat gland cancer eccrine sweat gland neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0005506 MONDO:0002206 True eccrine sweat gland cancer sweat gland cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0005507 MONDO:0005515 True gingival cancer oral cavity cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0005506 MONDO:0002206 True eccrine sweat gland cancer sweat gland cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005507 MONDO:0005515 True gingival cancer oral cavity cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0005507 MONDO:0005627 True gingival cancer head and neck cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0005507 MONDO:0021086 True gingival cancer gingival neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005508 MONDO:0002181 True hereditary multiple osteochondromas exostosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0005508 MONDO:0015356 True hereditary multiple osteochondromas hereditary neoplastic syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005508 MONDO:0023603 True hereditary multiple osteochondromas hereditary disorder of connective tissue UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005509 MONDO:0005070 True histiocytoma neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0005510 MONDO:0003330 True hydronephrosis urinary tract obstruction UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0005512 MONDO:0002087 True malignant peritoneal mesothelioma peritoneum cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0005508 MONDO:0002181 True hereditary multiple osteochondromas exostosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005508 MONDO:0019060 True hereditary multiple osteochondromas bone neoplasm UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0005509 MONDO:0005070 True histiocytoma neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005510 MONDO:0003330 True hydronephrosis urinary tract obstruction UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005511 MONDO:0015974 True janus kinase-3 deficiency severe combined immunodeficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005512 MONDO:0002087 True malignant peritoneal mesothelioma peritoneum cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0005512 MONDO:0006292 True malignant peritoneal mesothelioma malignant mesothelioma UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0005512 MONDO:0006362 True malignant peritoneal mesothelioma peritoneal mesothelioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0005514 MONDO:0016764 True nanophthalmia isolated anophthalmia-microphthalmia syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0005514 MONDO:0021129 True nanophthalmia microphthalmia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005515 MONDO:0002516 True oral cavity cancer digestive system cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0005515 MONDO:0021245 True oral cavity cancer oral cavity neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0005516 MONDO:0005497 True osteochondrodysplasia bone development disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005517 MONDO:0002516 True pharynx cancer digestive system cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0005517 MONDO:0020592 True pharynx cancer disorder of pharynx UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005517 MONDO:0021246 True pharynx cancer pharynx neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005517 MONDO:0021310 True pharynx cancer malignant tumor of neck UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005518 MONDO:0024665 True pseudohermaphroditism indeterminate sex and/or pseudohermaphroditism SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005519 MONDO:0005206 True renal pelvis carcinoma renal carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0005519 MONDO:0044919 True renal pelvis carcinoma malignant renal pelvis neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005522 MONDO:0000956 True small intestine carcinoma small intestine cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0005520 MONDO:0000833 True rickets bone remodeling disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005522 MONDO:0000956 True small intestine carcinoma small intestine cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0005522 MONDO:0006181 True small intestine carcinoma digestive system carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0005524 MONDO:0002206 True sweat gland carcinoma sweat gland cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0005523 MONDO:0002525 True steroid inherited metabolic disorder inherited lipid metabolism disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005524 MONDO:0002206 True sweat gland carcinoma sweat gland cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0005524 MONDO:0004970 True sweat gland carcinoma adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0005524 MONDO:0006973 True sweat gland carcinoma skin appendage carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005527 MONDO:0005071 True toxic encephalopathy nervous system disorder SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0005532 MONDO:0005011 True Crohn's colitis Crohn disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0005538 MONDO:0002519 True proctitis anus disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0005542 MONDO:0002254 True acute coronary syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005545 MONDO:0024313 True staphylococcus aureus infection staphylococcal infection UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005546 MONDO:0002254 True fibromyalgia syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0005552 MONDO:0005328 True ocular vascular disorder eye disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005552 MONDO:0005385 True ocular vascular disorder vascular disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005556 MONDO:0002462 True lupus nephritis glomerulonephritis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0005558 MONDO:0002263 True ovarian disorder female reproductive system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0005559 MONDO:0002602 True neurodegenerative disease central nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0005560 MONDO:0002602 True brain disorder central nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0005561 MONDO:0000473 True aortic disorder arterial disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0005564 MONDO:0005070 True embryonal neoplasm neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0005565 MONDO:0005564 True blastoma embryonal neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0005566 MONDO:0005567 True neonatal abstinence syndrome substance withdrawal syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0005567 MONDO:0002254 True substance withdrawal syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0005526 MONDO:0000314 True tetanus primary bacterial infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005526 MONDO:0020010 True tetanus infectious disorder of the nervous system UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0005527 MONDO:0005071 True toxic encephalopathy nervous system disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005528 MONDO:0019052 True inborn vitamin metabolic disorder inborn errors of metabolism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005530 MONDO:0005303 True opiate dependence drug dependence UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005531 MONDO:0005530 True morphine dependence opiate dependence UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005532 MONDO:0005011 True Crohn's colitis Crohn disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005541 MONDO:0000836 True spondylolysis disease of bone structure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005543 MONDO:0016264 True autoimmune hepatitis type 1 autoimmune hepatitis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0005546 MONDO:0002254 True fibromyalgia syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005554 MONDO:0003900 True rheumatic disorder connective tissue disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005555 MONDO:0000926 True cycloplegia eye accommodation disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005556 MONDO:0002462 True lupus nephritis glomerulonephritis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005558 MONDO:0002259 True ovarian disorder gonadal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005558 MONDO:0002263 True ovarian disorder female reproductive system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005559 MONDO:0002602 True neurodegenerative disease central nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005560 MONDO:0002602 True brain disorder central nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005561 MONDO:0000473 True aortic disorder arterial disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005564 MONDO:0005070 True embryonal neoplasm neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005565 MONDO:0004992 True blastoma cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005565 MONDO:0005564 True blastoma embryonal neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005566 MONDO:0005567 True neonatal abstinence syndrome substance withdrawal syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005567 MONDO:0002494 True substance withdrawal syndrome substance-related disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005568 MONDO:0005385 True cholesterol embolism vascular disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005571 MONDO:0003225 True polycythemia bone marrow disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005574 MONDO:0005559 True tauopathy neurodegenerative disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0005575 MONDO:0005335 True colorectal cancer colorectal neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005575 MONDO:0005814 True colorectal cancer intestinal cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0005578 MONDO:0006816 True arthritic joint disease arthropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0005580 MONDO:0005096 True esophageal squamous cell carcinoma squamous cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0005580 MONDO:0019086 True esophageal squamous cell carcinoma carcinoma of esophagus UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0005582 MONDO:0005451 True binge eating disorder eating disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0005575 MONDO:0005814 True colorectal cancer intestinal cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005576 MONDO:0002459 True cryoglobulinemia type IV hypersensitivity disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005578 MONDO:0002614 True arthritic joint disease bone inflammation disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005580 MONDO:0005096 True esophageal squamous cell carcinoma squamous cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005580 MONDO:0019086 True esophageal squamous cell carcinoma carcinoma of esophagus UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0005586 MONDO:0005070 True head and neck neoplasm neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005590 MONDO:0004988 True breast ductal adenocarcinoma breast adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0005593 MONDO:0005076 True chronic periodontitis periodontitis UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005595 MONDO:0002358 True laryngeal squamous cell carcinoma laryngeal carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0005595 MONDO:0002358 True laryngeal squamous cell carcinoma laryngeal carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0005595 MONDO:0010150 True laryngeal squamous cell carcinoma head and neck squamous cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0005596 MONDO:0004970 True cystadenocarcinoma adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0005596 MONDO:0021077 True cystadenocarcinoma cystic neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005599 MONDO:0006292 True malignant epithelioid mesothelioma malignant mesothelioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0005601 MONDO:0002752 True ovarian mucinous adenocarcinoma ovarian adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0005601 MONDO:0004957 True ovarian mucinous adenocarcinoma mucinous adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0005599 MONDO:0006292 True malignant epithelioid mesothelioma malignant mesothelioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005601 MONDO:0002752 True ovarian mucinous adenocarcinoma ovarian adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005601 MONDO:0004957 True ovarian mucinous adenocarcinoma mucinous adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0005601 MONDO:0024282 True ovarian mucinous adenocarcinoma mucinous ovarian cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005602 MONDO:0006233 True ovarian teratoma gonadal teratoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005602 MONDO:0011366 True ovarian teratoma ovarian germ cell tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0005605 MONDO:0002363 True transitional cell papilloma papilloma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0005606 MONDO:0004970 True tubular adenocarcinoma adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0005607 MONDO:0003781 True chronic bronchitis bronchitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005607 MONDO:0005002 True chronic bronchitis chronic obstructive pulmonary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005609 MONDO:0005608 True herpes zoster varicella zoster infection UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005611 MONDO:0004986 True bladder transitional cell carcinoma urinary bladder carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0005602 MONDO:0011366 True ovarian teratoma ovarian germ cell tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005605 MONDO:0002363 True transitional cell papilloma papilloma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005606 MONDO:0004970 True tubular adenocarcinoma adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005611 MONDO:0004986 True bladder transitional cell carcinoma urinary bladder carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0005611 MONDO:0040679 True bladder transitional cell carcinoma urothelial carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005613 MONDO:0004970 True mesonephric adenocarcinoma adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005614 MONDO:0006074 True pancreatic adenosquamous carcinoma adenosquamous carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0005615 MONDO:0004959 True plasmacytoma plasma cell neoplasm UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0005615 MONDO:0004959 True plasmacytoma plasma cell neoplasm UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0005616 MONDO:0003036 True pulmonary mucoepidermoid carcinoma mucoepidermoid carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0005617 MONDO:0004993 True undifferentiated carcinoma carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005620 MONDO:0011057 True cerebral amyloid angiopathy cerebrovascular disorder SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0005625 MONDO:0005136 True cerebral malaria malaria UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0005619 MONDO:0000827 True typhoid fever salmonellosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0005620 MONDO:0011057 True cerebral amyloid angiopathy cerebrovascular disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0005620 MONDO:0018634 True cerebral amyloid angiopathy hereditary amyloidosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0005625 MONDO:0005136 True cerebral malaria malaria UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0005626 MONDO:0005070 True epithelial neoplasm neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005627 MONDO:0004992 True head and neck cancer cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0005627 MONDO:0004992 True head and neck cancer cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0005627 MONDO:0005586 True head and neck cancer head and neck neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005628 MONDO:0004989 True male breast carcinoma breast carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0005629 MONDO:0002428 True Acanthamoeba keratitis protozoa infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005629 MONDO:0023865 True Acanthamoeba keratitis corneal infection UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005632 MONDO:0002254 True acute chest syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0005634 MONDO:0001214 True acute hemorrhagic conjunctivitis acute conjunctivitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0005629 MONDO:0023865 True Acanthamoeba keratitis corneal infection UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0005631 MONDO:0000315 True actinomycosis commensal bacterial infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005632 MONDO:0005275 True acute chest syndrome lung disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0005635 MONDO:0000624 True adenomyoma benign female reproductive system neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0005636 MONDO:0001416 True adenosarcoma female reproductive organ cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0005636 MONDO:0005853 True adenosarcoma malignant mixed neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0005647 MONDO:0005161 True anogenital human papillomavirus infection human papilloma virus infection UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0005648 MONDO:0003803 True aortic valve insufficiency aortic valve disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0005661 MONDO:0002428 True babesiosis protozoa infectious disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0005663 MONDO:0002254 True Barre-Lieou syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0005665 MONDO:0002098 True Bell's palsy facial nerve disorder SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0005636 MONDO:0005853 True adenosarcoma malignant mixed neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005640 MONDO:0005560 True akinetic mutism brain disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005642 MONDO:0002314 True atopic conjunctivitis chronic conjunctivitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005644 MONDO:0002428 True amebiasis protozoa infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005648 MONDO:0003803 True aortic valve insufficiency aortic valve disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005649 MONDO:0002031 True appendicitis cecal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005657 MONDO:0002312 True aspergillosis opportunistic mycosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005659 MONDO:0003014 True atrophic rhinitis rhinitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005661 MONDO:0002428 True babesiosis protozoa infectious disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005662 MONDO:0002428 True balantidiasis protozoa infectious disease UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005663 MONDO:0002254 True Barre-Lieou syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005664 MONDO:0000314 True bartonellosis primary bacterial infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005665 MONDO:0001835 True Bell's palsy facial paralysis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005665 MONDO:0002098 True Bell's palsy facial nerve disorder SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0005665 MONDO:0002782 True Bell's palsy cranial nerve palsy UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0005668 MONDO:0017853 True bird fancier's lung hypersensitivity pneumonitis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0005670 MONDO:0005136 True blackwater fever malaria UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0005673 MONDO:0020598 True blind loop syndrome malabsorption syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005682 MONDO:0005249 True bronchopneumonia pneumonia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0005689 MONDO:0005303 True cannabis dependence drug dependence UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0005692 MONDO:0005664 True cat-scratch disease bartonellosis UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0005693 MONDO:0002254 True cauda equina syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0005693 MONDO:0003620 True cauda equina syndrome peripheral nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0005667 MONDO:0005281 True biliary dyskinesia gallbladder disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005668 MONDO:0017853 True bird fancier's lung hypersensitivity pneumonitis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005670 MONDO:0005136 True blackwater fever malaria UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005672 MONDO:0000308 True blastomycosis primary systemic mycosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005674 MONDO:0021054 True bone giant cell tumor bone sarcoma UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0005680 MONDO:0019362 True Brill-Zinsser disease epidemic louse-borne typhus UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005682 MONDO:0005249 True bronchopneumonia pneumonia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005683 MONDO:0000314 True brucellosis primary bacterial infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005684 MONDO:0000341 True bulbar polio paralytic poliomyelitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005688 MONDO:0002269 True campylobacteriosis gastroenteritis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005689 MONDO:0005303 True cannabis dependence drug dependence UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005690 MONDO:0015926 True Caplan syndrome pneumoconiosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005692 MONDO:0005664 True cat-scratch disease bartonellosis UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005693 MONDO:0002254 True cauda equina syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005693 MONDO:0003620 True cauda equina syndrome peripheral nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005694 MONDO:0002031 True cecal neoplasm cecal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0005694 MONDO:0005401 True cecal neoplasm colonic neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005699 MONDO:0005631 True cervicofacial actinomycosis actinomycosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005700 MONDO:0005608 True chickenpox varicella zoster infection UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005705 MONDO:0004664 True clonorchiasis helminthiasis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0005707 MONDO:0002428 True coccidiosis protozoa infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0005709 MONDO:0001040 True common cold nasopharyngitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0005710 MONDO:0005062 True composite lymphoma lymphoma UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0005714 MONDO:0005976 True congenital syphilis syphilis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0005715 MONDO:0005989 True congenital toxoplasmosis toxoplasmosis UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0005722 MONDO:0004777 True croup acute laryngitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0005723 MONDO:0005724 True Cryptococcal meningitis cryptococcosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0005737 MONDO:0018087 True Ebola hemorrhagic fever viral hemorrhagic fever UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005742 MONDO:0002155 True emphysematous cholecystitis cholecystitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0005753 MONDO:0020592 True epiglottitis disorder of pharynx UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005756 MONDO:0005961 True ethmoid sinusitis sinusitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0005761 MONDO:0016075 True filarial elephantiasis filariasis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0005769 MONDO:0021666 True geniculate herpes zoster ear infection UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005776 MONDO:0004664 True gnathomiasis helminthiasis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0005790 MONDO:0006011 True hepatitis A virus infection viral hepatitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0005798 MONDO:0024571 True HIV-associated nephropathy AIDS-related disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005802 MONDO:0004664 True hymenolepiasis helminthiasis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0005806 MONDO:0005517 True hypopharynx cancer pharynx cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0005696 MONDO:0000368 True central nervous system tuberculosis extrapulmonary tuberculosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005698 MONDO:0002256 True cervical incompetence cervix disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005701 MONDO:0000315 True chlamydia trachomatis infectious disease commensal bacterial infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005705 MONDO:0004664 True clonorchiasis helminthiasis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005706 MONDO:0000308 True coccidioidomycosis primary systemic mycosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005707 MONDO:0002428 True coccidiosis protozoa infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005708 MONDO:0006009 True Colorado tick fever viral encephalitis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0005710 MONDO:0005062 True composite lymphoma lymphoma UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005711 MONDO:0005728 True congenital diaphragmatic hernia diaphragm disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005712 MONDO:0004843 True congenital nystagmus pathologic nystagmus UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005714 MONDO:0005976 True congenital syphilis syphilis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005714 MONDO:0016511 True congenital syphilis infectious embryofetopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0005715 MONDO:0005989 True congenital toxoplasmosis toxoplasmosis UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005715 MONDO:0016511 True congenital toxoplasmosis infectious embryofetopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0005717 MONDO:0005108 True contagious pustular dermatitis viral infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005723 MONDO:0006764 True Cryptococcal meningitis fungal meningitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005724 MONDO:0002312 True cryptococcosis opportunistic mycosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005725 MONDO:0005707 True cyclosporiasis coccidiosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005729 MONDO:0004664 True dicrocoeliasis helminthiasis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005731 MONDO:0016075 True dipetalonemiasis filariasis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005736 MONDO:0006009 True eastern equine encephalitis viral encephalitis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0005737 MONDO:0018087 True Ebola hemorrhagic fever viral hemorrhagic fever UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0005739 MONDO:0004664 True echinostomiasis helminthiasis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005742 MONDO:0002155 True emphysematous cholecystitis cholecystitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005743 MONDO:0005846 True encephalitozoonosis microsporidiosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005749 MONDO:0005249 True eosinophilic pneumonia pneumonia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005751 MONDO:0005108 True epidemic pleurodynia viral infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005753 MONDO:0004867 True epiglottitis upper respiratory tract disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005754 MONDO:0000415 True epilepsy with generalized tonic-clonic seizures adolescence-adult electroclinical syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005756 MONDO:0005961 True ethmoid sinusitis sinusitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005757 MONDO:0002040 True eumycotic mycetoma dermatomycosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005758 MONDO:0002146 True eunuchism hypogonadism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005759 MONDO:0004664 True fascioloidiasis helminthiasis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005761 MONDO:0016075 True filarial elephantiasis filariasis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005764 MONDO:0004380 True follicular dendritic cell sarcoma dendritic cell sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005764 MONDO:0017345 True follicular dendritic cell sarcoma Epstein-Barr virus-associated mesenchymal tumor UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0005767 MONDO:0000315 True gas gangrene commensal bacterial infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005768 MONDO:0000368 True gastrointestinal tuberculosis extrapulmonary tuberculosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005770 MONDO:0004609 True genital herpes herpes simplex infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005771 MONDO:0001989 True geographic tongue atrophic glossitis UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005772 MONDO:0002312 True geotrichosis opportunistic mycosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005773 MONDO:0005071 True Gerstmann syndrome nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005774 MONDO:0000314 True glanders primary bacterial infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005775 MONDO:0019214 True G6PD deficiency inborn carbohydrate metabolic disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005776 MONDO:0004664 True gnathomiasis helminthiasis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005777 MONDO:0000314 True granuloma inguinale primary bacterial infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005778 MONDO:0005994 True haemonchiasis trichostrongyloidiasis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005783 MONDO:0001370 True hemopericardium pericardial effusion UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005784 MONDO:0005240 True hantavirus hemorrhagic fever with renal syndrome kidney disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005787 MONDO:0000369 True hepatic tuberculosis abdominal tuberculosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005787 MONDO:0005768 True hepatic tuberculosis gastrointestinal tuberculosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005791 MONDO:0005108 True herpangina viral infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005802 MONDO:0004664 True hymenolepiasis helminthiasis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005803 MONDO:0019214 True hyperinsulinemic hypoglycemia inborn carbohydrate metabolic disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005805 MONDO:0019147 True hypodermyiasis myiasis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005806 MONDO:0005517 True hypopharynx cancer pharynx cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0005806 MONDO:0021358 True hypopharynx cancer neoplasm of hypopharynx UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005807 MONDO:0003780 True idiopathic CD4-positive T-lymphocytopenia T-cell immunodeficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005808 MONDO:0006668 True inclusion conjunctivitis bacterial conjunctivitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0005810 MONDO:0005111 True infectious mononucleosis Epstein-Barr virus infection UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005814 MONDO:0002516 True intestinal cancer digestive system cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0005807 MONDO:0003783 True idiopathic CD4-positive T-lymphocytopenia lymphopenia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005814 MONDO:0002516 True intestinal cancer digestive system cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0005814 MONDO:0021118 True intestinal cancer intestinal neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0005815 MONDO:0001933 True pancreatic neuroendocrine neoplasm endocrine pancreas disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0005815 MONDO:0021040 True pancreatic neuroendocrine neoplasm pancreatic neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005815 MONDO:0024503 True pancreatic neuroendocrine neoplasm digestive system neuroendocrine neoplasm UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005817 MONDO:0002254 True Kluver-Bucy syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0005819 MONDO:0002647 True laryngeal tuberculosis laryngitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0005822 MONDO:0005976 True latent syphilis syphilis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0005824 MONDO:0004652 True Legionnaires' disease bacterial pneumonia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0005835 MONDO:0018630 True Lynch syndrome hereditary nonpolyposis colon cancer UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005836 MONDO:0002149 True male reproductive organ cancer reproductive system cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0005815 MONDO:0024503 True pancreatic neuroendocrine neoplasm digestive system neuroendocrine neoplasm UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0005817 MONDO:0001162 True Kluver-Bucy syndrome impulse control disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005819 MONDO:0002647 True laryngeal tuberculosis laryngitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005821 MONDO:0005714 True late congenital syphilis congenital syphilis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005822 MONDO:0005976 True latent syphilis syphilis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005823 MONDO:0000314 True legionellosis primary bacterial infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005824 MONDO:0005823 True Legionnaires' disease legionellosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005825 MONDO:0000314 True leptospirosis primary bacterial infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005826 MONDO:0002572 True lipid pneumonia aspiration pneumonitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005827 MONDO:0005148 True lipoatrophic diabetes type 2 diabetes mellitus UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005828 MONDO:0000314 True listeriosis primary bacterial infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005831 MONDO:0000368 True lymph node tuberculosis extrapulmonary tuberculosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005831 MONDO:0004928 True lymph node tuberculosis lymph node disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005832 MONDO:0005833 True lymphangitis lymphatic system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005834 MONDO:0005777 True lymphogranuloma venereum granuloma inguinale UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005835 MONDO:0000426 True Lynch syndrome autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005835 MONDO:0018630 True Lynch syndrome hereditary nonpolyposis colon cancer UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0005836 MONDO:0002149 True male reproductive organ cancer reproductive system cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0005836 MONDO:0024582 True male reproductive organ cancer male reproductive system neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005838 MONDO:0016075 True mansonelliasis filariasis SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0005842 MONDO:0005961 True maxillary sinusitis sinusitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0005843 MONDO:0003274 True mediastinal cancer thoracic cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0005837 MONDO:0002131 True mandibular cancer jaw cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005838 MONDO:0016075 True mansonelliasis filariasis SUPPORTED SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005842 MONDO:0005961 True maxillary sinusitis sinusitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005843 MONDO:0003274 True mediastinal cancer thoracic cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0005843 MONDO:0021386 True mediastinal cancer neoplasm of mediastinum UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005851 MONDO:0002254 True Miller Fisher syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0005853 MONDO:0004992 True malignant mixed neoplasm cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0005846 MONDO:0002312 True microsporidiosis opportunistic mycosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005847 MONDO:0005275 True middle lobe syndrome lung disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005848 MONDO:0000368 True miliary tuberculosis extrapulmonary tuberculosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005850 MONDO:0005108 True milker's nodule viral infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005852 MONDO:0003767 True mitral valve stenosis mitral valve disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005853 MONDO:0004992 True malignant mixed neoplasm cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0005853 MONDO:0021043 True malignant mixed neoplasm mixed neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005854 MONDO:0005554 True mixed connective tissue disease rheumatic disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0005854 MONDO:0016663 True mixed connective tissue disease overlapping connective tissue disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0005855 MONDO:0005108 True molluscum contagiosum viral infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0005858 MONDO:0004957 True mucinous cystadenocarcinoma mucinous adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0005858 MONDO:0005596 True mucinous cystadenocarcinoma cystadenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0005859 MONDO:0011989 True mucocutaneous leishmaniasis leishmaniasis SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0005866 MONDO:0020590 True mycobacterium avium complex disease mycobacterial infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005867 MONDO:0004652 True Mycoplasma pneumoniae pneumonia bacterial pneumonia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0005870 MONDO:0004664 True necatoriasis helminthiasis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0005872 MONDO:0004992 True nervous system cancer cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0005858 MONDO:0005596 True mucinous cystadenocarcinoma cystadenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005859 MONDO:0011989 True mucocutaneous leishmaniasis leishmaniasis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005864 MONDO:0000637 True muscle cancer musculoskeletal system cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005865 MONDO:0017853 True mushroom workers' lung hypersensitivity pneumonitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005866 MONDO:0000314 True mycobacterium avium complex disease primary bacterial infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005867 MONDO:0004652 True Mycoplasma pneumoniae pneumonia bacterial pneumonia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005870 MONDO:0004664 True necatoriasis helminthiasis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005872 MONDO:0004992 True nervous system cancer cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0005872 MONDO:0021248 True nervous system cancer nervous system neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005875 MONDO:0005108 True Newcastle disease viral infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0005878 MONDO:0017137 True ocular onchocerciasis onchocerciasis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005884 MONDO:0004664 True opisthorchiasis helminthiasis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0005885 MONDO:0002135 True optic neuritis optic nerve disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0005886 MONDO:0002026 True oral candidiasis candidiasis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0005873 MONDO:0005657 True neuroaspergillosis aspergillosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005874 MONDO:0015254 True neuroschistosomiasis schistosomiasis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005875 MONDO:0005108 True Newcastle disease viral infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005881 MONDO:0005917 True oligohydramnios placenta disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005884 MONDO:0004664 True opisthorchiasis helminthiasis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005885 MONDO:0002135 True optic neuritis optic nerve disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005886 MONDO:0002026 True oral candidiasis candidiasis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005886 MONDO:0006858 True oral candidiasis mouth disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005887 MONDO:0005768 True oral tuberculosis gastrointestinal tuberculosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005887 MONDO:0006858 True oral tuberculosis mouth disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005888 MONDO:0000314 True ornithosis primary bacterial infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005890 MONDO:0000837 True osteitis fibrosa bone resorption disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005891 MONDO:0005994 True ostertagiasis trichostrongyloidiasis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0005893 MONDO:0002120 True pancreatic endocrine carcinoma neuroendocrine carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0005893 MONDO:0005815 True pancreatic endocrine carcinoma pancreatic neuroendocrine neoplasm UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0005893 MONDO:0005815 True pancreatic endocrine carcinoma pancreatic neuroendocrine neoplasm UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0005893 MONDO:0006181 True pancreatic endocrine carcinoma digestive system carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0005893 MONDO:0009831 True pancreatic endocrine carcinoma malignant pancreatic neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0005895 MONDO:0004664 True paragonimiasis helminthiasis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0005905 MONDO:0003406 True periodic limb movement disorder sleep-wake disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0005906 MONDO:0005227 True peritonsillar abscess abscess UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005911 MONDO:0005108 True pharyngoconjunctival fever viral infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0005916 MONDO:0005917 True placenta accreta placenta disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0005917 MONDO:0024575 True placenta disorder pregnancy disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005918 MONDO:0005917 True placenta praevia placenta disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0005920 MONDO:0005136 True Plasmodium falciparum malaria malaria UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0005921 MONDO:0005136 True Plasmodium vivax malaria malaria UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0005922 MONDO:0000986 True pleural tuberculosis pleurisy UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0005929 MONDO:0002050 True postpartum depression depressive disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0005893 MONDO:0009831 True pancreatic endocrine carcinoma malignant pancreatic neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005894 MONDO:0000308 True paracoccidioidomycosis primary systemic mycosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005895 MONDO:0004664 True paragonimiasis helminthiasis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005898 MONDO:0002884 True paronychia nail disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005899 MONDO:0001142 True parotid disorder salivary gland disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005900 MONDO:0005899 True parotitis parotid disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005901 MONDO:0005113 True pasteurellosis bacterial infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005903 MONDO:0000368 True pericardial tuberculosis extrapulmonary tuberculosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005904 MONDO:0000474 True pericarditis pericardium disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005905 MONDO:0003406 True periodic limb movement disorder sleep-wake disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005907 MONDO:0002254 True persian gulf syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005910 MONDO:0003778 True phagocyte bactericidal dysfunction inborn error of immunity UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005911 MONDO:0005108 True pharyngoconjunctival fever viral infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005912 MONDO:0002491 True phencyclidine abuse substance abuse UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005915 MONDO:0024268 True pityriasis versicolor superficial mycosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005916 MONDO:0005917 True placenta accreta placenta disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005917 MONDO:0002654 True placenta disorder uterine disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005918 MONDO:0005917 True placenta praevia placenta disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005919 MONDO:0005917 True placental insufficiency placenta disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005920 MONDO:0005136 True Plasmodium falciparum malaria malaria UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005921 MONDO:0005136 True Plasmodium vivax malaria malaria UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005922 MONDO:0000368 True pleural tuberculosis extrapulmonary tuberculosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005928 MONDO:0000945 True post-thrombotic syndrome venous insufficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005929 MONDO:0002050 True postpartum depression depressive disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005933 MONDO:0005565 True pulmonary blastoma blastoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0005933 MONDO:0006279 True pulmonary blastoma lung sarcomatoid carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0005937 MONDO:0003406 True REM sleep behavior disorder sleep-wake disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0005941 MONDO:0004992 True retroperitoneal cancer cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0005937 MONDO:0003406 True REM sleep behavior disorder sleep-wake disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005938 MONDO:0005240 True renal tuberculosis kidney disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005938 MONDO:0006002 True renal tuberculosis urogenital tuberculosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005941 MONDO:0004992 True retroperitoneal cancer cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0005941 MONDO:0024645 True retroperitoneal cancer retroperitoneal neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005942 MONDO:0002254 True Reye syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0005952 MONDO:0021680 True scarlet fever streptococcal infection UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005953 MONDO:0004970 True scirrhous adenocarcinoma adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0005956 MONDO:0019095 True septicemic plague plague SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0005960 MONDO:0015926 True silicosis pneumoconiosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0005961 MONDO:0001735 True sinusitis paranasal sinus disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0005961 MONDO:0021166 True sinusitis inflammatory disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005964 MONDO:0005961 True sphenoid sinusitis sinusitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0005942 MONDO:0002254 True Reye syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005945 MONDO:0000314 True rhinoscleroma primary bacterial infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005946 MONDO:0000307 True rhinosporidiosis parasitic Ichthyosporea infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005953 MONDO:0004970 True scirrhous adenocarcinoma adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005954 MONDO:0019147 True screw worm infectious disease myiasis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005956 MONDO:0019095 True septicemic plague plague SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005957 MONDO:0016075 True setariasis filariasis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005959 MONDO:0017853 True sick building syndrome hypersensitivity pneumonitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005960 MONDO:0015926 True silicosis pneumoconiosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005961 MONDO:0001735 True sinusitis paranasal sinus disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005962 MONDO:0000368 True skeletal tuberculosis extrapulmonary tuberculosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005964 MONDO:0005961 True sphenoid sinusitis sinusitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005965 MONDO:0000836 True spinal stenosis disease of bone structure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005966 MONDO:0000612 True spleen cancer lymphatic system cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0005966 MONDO:0002516 True spleen cancer digestive system cancer SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0005966 MONDO:0036696 True spleen cancer spleen neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005968 MONDO:0002041 True sporotrichosis fungal infectious disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0005971 MONDO:0024313 True staphyloenterotoxemia staphylococcal infection UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005976 MONDO:0007000 True syphilis Treponema infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005977 MONDO:0004944 True tabes dorsalis neurosyphilis UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0005979 MONDO:0002254 True thoracic outlet syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0005982 MONDO:0021201 True tinea infection skin infection UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005984 MONDO:0004678 True tinea pedis dermatophytosis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0005990 MONDO:0002567 True tracheitis tracheal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0005993 MONDO:0002154 True Trichomonas vaginitis urogenital infection trichomoniasis SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0005967 MONDO:0000369 True splenic tuberculosis abdominal tuberculosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005967 MONDO:0002332 True splenic tuberculosis splenic disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005968 MONDO:0002041 True sporotrichosis fungal infectious disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005971 MONDO:0000314 True staphyloenterotoxemia primary bacterial infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005972 MONDO:0004652 True streptococcal pneumonia bacterial pneumonia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005975 MONDO:0005441 True suppurative otitis media otitis media UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005976 MONDO:0000314 True syphilis primary bacterial infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005977 MONDO:0004944 True tabes dorsalis neurosyphilis UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005978 MONDO:0002428 True theileriasis protozoa infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005979 MONDO:0005385 True thoracic outlet syndrome vascular disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005980 MONDO:0002875 True tick infestation parasitic ectoparasitic infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005981 MONDO:0005980 True tick paralysis tick infestation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005984 MONDO:0004678 True tinea pedis dermatophytosis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005989 MONDO:0005707 True toxoplasmosis coccidiosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005990 MONDO:0002567 True tracheitis tracheal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005991 MONDO:0005664 True trench fever bartonellosis UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005993 MONDO:0002154 True Trichomonas vaginitis urogenital infection trichomoniasis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0005993 MONDO:0021681 True Trichomonas vaginitis urogenital infection sexually transmitted disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005999 MONDO:0005242 True tuberculous empyema empyema UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006001 MONDO:0015254 True urinary schistosomiasis schistosomiasis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0006003 MONDO:0002715 True uterine corpus cancer uterine cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0005994 MONDO:0004664 True trichostrongyloidiasis helminthiasis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005995 MONDO:0005994 True trichostrongylosis trichostrongyloidiasis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005997 MONDO:0000471 True tricuspid valve stenosis tricuspid valve disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005998 MONDO:0004389 True trombiculiasis mite infestation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005999 MONDO:0018667 True tuberculous empyema pleural empyema UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006000 MONDO:0000369 True tuberculous peritonitis abdominal tuberculosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006000 MONDO:0005768 True tuberculous peritonitis gastrointestinal tuberculosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006001 MONDO:0006026 True urinary schistosomiasis urinary bladder disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006001 MONDO:0015254 True urinary schistosomiasis schistosomiasis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006002 MONDO:0000368 True urogenital tuberculosis extrapulmonary tuberculosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006003 MONDO:0002715 True uterine corpus cancer uterine cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0006003 MONDO:0021254 True uterine corpus cancer corpus uteri neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006005 MONDO:0018087 True Venezuelan equine encephalitis viral hemorrhagic fever UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006006 MONDO:0002979 True verrucous carcinoma papillary squamous carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0006009 MONDO:0020067 True viral encephalitis infectious encephalitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006011 MONDO:0002251 True viral hepatitis hepatitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0006011 MONDO:0043424 True viral hepatitis digestive system infectious disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006015 MONDO:0002254 True Waterhouse-Friderichsen syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0006026 MONDO:0002118 True urinary bladder disorder urinary system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0006007 MONDO:0001926 True vesicoureteral reflux ureteral disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006008 MONDO:0001563 True vestibular neuronitis vestibulocochlear nerve disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006011 MONDO:0002251 True viral hepatitis hepatitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006012 MONDO:0005249 True viral pneumonia pneumonia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006015 MONDO:0019801 True Waterhouse-Friderichsen syndrome acute adrenal insufficiency UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006018 MONDO:0002254 True Wissler syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006021 MONDO:0005356 True Prinzmetal angina coronary vasospasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006025 MONDO:0000429 True autosomal recessive disease autosomal genetic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006026 MONDO:0002118 True urinary bladder disorder urinary system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0006028 MONDO:0002271 True cecum adenocarcinoma colon adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0006028 MONDO:0006029 True cecum adenocarcinoma cecum carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0006028 MONDO:0006029 True cecum adenocarcinoma cecum carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0006029 MONDO:0002032 True cecum carcinoma colon carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0006029 MONDO:0002033 True cecum carcinoma cecum cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0006030 MONDO:0006032 True chronic cystitis cystitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0006031 MONDO:0005961 True chronic rhinosinusitis sinusitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006032 MONDO:0006026 True cystitis urinary bladder disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0006029 MONDO:0002033 True cecum carcinoma cecum cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006030 MONDO:0006032 True chronic cystitis cystitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006032 MONDO:0006026 True cystitis urinary bladder disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0006034 MONDO:0006074 True gastric adenosquamous carcinoma adenosquamous carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0006035 MONDO:0005036 True gastric tubular adenocarcinoma gastric adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0006035 MONDO:0005036 True gastric tubular adenocarcinoma gastric adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0006035 MONDO:0005606 True gastric tubular adenocarcinoma tubular adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0006036 MONDO:0006055 True granulosa cell tumor sex cord-stromal tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0006039 MONDO:0005292 True infectious colitis colitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006039 MONDO:0043424 True infectious colitis digestive system infectious disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006036 MONDO:0006055 True granulosa cell tumor sex cord-stromal tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006037 MONDO:0006025 True hydrolethalus syndrome autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0006041 MONDO:0005369 True lung carcinoid tumor carcinoid tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006041 MONDO:0005454 True lung carcinoid tumor lung neuroendocrine neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006042 MONDO:0006670 True meningeal tuberculosis bacterial meningitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006043 MONDO:0006256 True metaplastic breast carcinoma invasive breast carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006045 MONDO:0000548 True ovarian clear cell adenocarcinoma ovarian clear cell cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0006045 MONDO:0002752 True ovarian clear cell adenocarcinoma ovarian adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0006045 MONDO:0002752 True ovarian clear cell adenocarcinoma ovarian adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0006045 MONDO:0005004 True ovarian clear cell adenocarcinoma clear cell adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0006046 MONDO:0002702 True ovarian serous cystadenocarcinoma ovarian cystadenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0006046 MONDO:0002702 True ovarian serous cystadenocarcinoma ovarian cystadenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0006046 MONDO:0005211 True ovarian serous cystadenocarcinoma ovarian serous adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0006046 MONDO:0024621 True ovarian serous cystadenocarcinoma serous cystadenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006047 MONDO:0004970 True pancreatic adenocarcinoma adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0006047 MONDO:0005192 True pancreatic adenocarcinoma exocrine pancreatic carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0006047 MONDO:0004970 True pancreatic adenocarcinoma adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006047 MONDO:0005192 True pancreatic adenocarcinoma exocrine pancreatic carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0006049 MONDO:0002512 True papillary lung adenocarcinoma papillary adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0006049 MONDO:0005061 True papillary lung adenocarcinoma lung adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0006049 MONDO:0005061 True papillary lung adenocarcinoma lung adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0006050 MONDO:0004953 True pleomorphic breast carcinoma invasive ductal breast carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006052 MONDO:0005087 True pulmonary tuberculosis respiratory system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0006052 MONDO:0018076 True pulmonary tuberculosis tuberculosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0006052 MONDO:0005087 True pulmonary tuberculosis respiratory system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006052 MONDO:0018076 True pulmonary tuberculosis tuberculosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0006053 MONDO:0001572 True renal leiomyoma leiomyoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006053 MONDO:0002513 True renal leiomyoma kidney benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006054 MONDO:0005039 True reproductive system neoplasm reproductive system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006054 MONDO:0005070 True reproductive system neoplasm neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006055 MONDO:0006054 True sex cord-stromal tumor reproductive system neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006056 MONDO:0005096 True squamous cell breast carcinoma squamous cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0006056 MONDO:0005096 True squamous cell breast carcinoma squamous cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006056 MONDO:0006043 True squamous cell breast carcinoma metaplastic breast carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0006058 MONDO:0005564 True Wilms tumor embryonal neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006058 MONDO:0005853 True Wilms tumor malignant mixed neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006059 MONDO:0003212 True nasal cavity squamous cell carcinoma nasal cavity carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS @@ -4065,18 +5668,17 @@ MONDO:0006067 MONDO:0004957 True acinar prostate mucinous adenocarcinoma mucinou MONDO:0006068 MONDO:0006373 True ACTH-producing pituitary gland adenoma pituitary gland adenoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006069 MONDO:0017582 True ACTH-producing pituitary gland carcinoma pituitary adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0006073 MONDO:0021445 True adenomatoid odontogenic tumor benign neoplasm of oral cavity UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006074 MONDO:0005096 True adenosquamous carcinoma squamous cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0006076 MONDO:0003606 True adrenal gland neuroblastoma adrenal medulla cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0006076 MONDO:0005872 True adrenal gland neuroblastoma nervous system cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0006077 MONDO:0005043 True adrenal medullary hyperplasia hyperplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006078 MONDO:0005062 True AIDS-related primary central nervous system lymphoma lymphoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006079 MONDO:0002038 True ameloblastic carcinoma head and neck carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006079 MONDO:0021192 True ameloblastic carcinoma odontogenic neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006081 MONDO:0001879 True anal melanoma anus cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0006082 MONDO:0003199 True anal squamous cell carcinoma anal carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0006085 MONDO:0005106 True angiolipoma lipoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0006081 MONDO:0001879 True anal melanoma anus cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006082 MONDO:0003199 True anal squamous cell carcinoma anal carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006085 MONDO:0005106 True angiolipoma lipoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0006086 MONDO:0044335 True angiomyxoma benign soft tissue neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006087 MONDO:0003196 True appendix adenocarcinoma appendix carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0006090 MONDO:0006249 True appendix hyperplastic polyp hyperplastic polyp UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006087 MONDO:0003196 True appendix adenocarcinoma appendix carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0006091 MONDO:0015066 True appendix neuroendocrine tumor G1 neuroendocrine tumor of the appendix, well differentiated, low or intermediate grade UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006092 MONDO:0006088 True appendix villous adenoma appendix adenoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006093 MONDO:0006155 True ascending colon neuroendocrine tumor G1 colon neuroendocrine tumor G1 UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -4087,9 +5689,6 @@ MONDO:0006098 MONDO:0002486 True atypical lobular breast hyperplasia lobular neo MONDO:0006098 MONDO:0005043 True atypical lobular breast hyperplasia hyperplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006102 MONDO:0004993 True basaloid carcinoma carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006103 MONDO:0004974 True benign adrenal gland pheochromocytoma adrenal gland pheochromocytoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006103 MONDO:0021468 True benign adrenal gland pheochromocytoma benign neoplasm of adrenal medulla UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006103 MONDO:0036976 True benign adrenal gland pheochromocytoma benign epithelial neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006104 MONDO:0000627 True benign carotid body paraganglioma benign endocrine neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006104 MONDO:0021053 True benign carotid body paraganglioma carotid body paraganglioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006105 MONDO:0020204 True benign conjunctival neoplasm conjunctival tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006105 MONDO:0021454 True benign conjunctival neoplasm benign neoplasm of eye UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -4098,7 +5697,7 @@ MONDO:0006106 MONDO:0006975 True benign smooth muscle neoplasm smooth muscle tum MONDO:0006107 MONDO:0015074 True benign thyroid gland neoplasm thyroid tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006108 MONDO:0006180 True bile duct adenoma digestive system adenoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0006108 MONDO:0021662 True bile duct adenoma bile duct neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006109 MONDO:0006292 True malignant biphasic mesothelioma malignant mesothelioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0006109 MONDO:0006292 True malignant biphasic mesothelioma malignant mesothelioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0006111 MONDO:0004987 True bladder flat intraepithelial lesion urinary bladder neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006112 MONDO:0004987 True bladder inflammatory myofibroblastic tumor urinary bladder neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006112 MONDO:0015798 True bladder inflammatory myofibroblastic tumor inflammatory myofibroblastic tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -4106,12 +5705,9 @@ MONDO:0006115 MONDO:0011996 True blast phase chronic myelogenous leukemia, BCR-A MONDO:0006116 MONDO:0004989 True breast carcinoma by gene expression profile breast carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006117 MONDO:0003661 True breast diffuse large B-cell lymphoma breast lymphoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006117 MONDO:0018905 True breast diffuse large B-cell lymphoma diffuse large B-cell lymphoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006118 MONDO:0003724 True breast fibrosis non-proliferative fibrocystic change of the breast UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0006118 MONDO:0003724 True breast fibrosis non-proliferative fibrocystic change of the breast UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0006119 MONDO:0007650 True breast mucosa-associated lymphoid tissue lymphoma MALT lymphoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006120 MONDO:0003240 True C-cell hyperplasia thyroid gland disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006120 MONDO:0005043 True C-cell hyperplasia hyperplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006121 MONDO:0005165 True calcifying fibrous tumor benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006122 MONDO:0002691 True calcifying nested epithelial stromal tumor of the liver liver cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006123 MONDO:0021450 True cardiac rhabdomyoma benign neoplasm of heart UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006123 MONDO:0036688 True cardiac rhabdomyoma rhabdomyoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006126 MONDO:0005694 True cecum neuroendocrine tumor G1 cecal neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -4121,30 +5717,27 @@ MONDO:0006128 MONDO:0020633 True central nervous system anaplastic large cell ly MONDO:0006128 MONDO:0044887 True central nervous system anaplastic large cell lymphoma central nervous system non-hodgkin lymphoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006130 MONDO:0002602 True central nervous system neoplasm central nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006130 MONDO:0021248 True central nervous system neoplasm nervous system neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006131 MONDO:0002913 True cerebellar liponeurocytoma cerebellar neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0006131 MONDO:0002913 True cerebellar liponeurocytoma cerebellar neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0006133 MONDO:0004971 True cervical adenoid cystic carcinoma adenoid cystic carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0006134 MONDO:0006074 True cervical adenosquamous carcinoma adenosquamous carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0006135 MONDO:0005004 True cervical clear cell adenocarcinoma clear cell adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0006135 MONDO:0005153 True cervical clear cell adenocarcinoma cervical adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0006135 MONDO:0005153 True cervical clear cell adenocarcinoma cervical adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0006137 MONDO:0022394 True cervical intraepithelial neoplasia grade 2/3 cervical intraepithelial neoplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006138 MONDO:0005057 True cervical large cell neuroendocrine carcinoma large cell neuroendocrine carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0006138 MONDO:0005131 True cervical large cell neuroendocrine carcinoma cervical carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0006140 MONDO:0002742 True cervical mucinous adenocarcinoma, minimal deviation variant cervical mucinous adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0006138 MONDO:0005131 True cervical large cell neuroendocrine carcinoma cervical carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006140 MONDO:0002742 True cervical mucinous adenocarcinoma, minimal deviation variant cervical mucinous adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006141 MONDO:0002742 True cervical villoglandular adenocarcinoma cervical mucinous adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0006141 MONDO:0003204 True cervical villoglandular adenocarcinoma villous adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0006142 MONDO:0000402 True cervical small cell carcinoma small cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0006142 MONDO:0005131 True cervical small cell carcinoma cervical carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0006143 MONDO:0005096 True cervical squamous cell carcinoma squamous cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0006143 MONDO:0005131 True cervical squamous cell carcinoma cervical carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0006144 MONDO:0002974 True cervical Wilms tumor cervical cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0006142 MONDO:0005131 True cervical small cell carcinoma cervical carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006143 MONDO:0005096 True cervical squamous cell carcinoma squamous cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006143 MONDO:0005131 True cervical squamous cell carcinoma cervical carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006144 MONDO:0002974 True cervical Wilms tumor cervical cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0006144 MONDO:0006058 True cervical Wilms tumor Wilms tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006145 MONDO:0008978 True chondroid chordoma chordoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0006146 MONDO:0006499 True chondroid hamartoma hamartoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006145 MONDO:0008978 True chondroid chordoma chordoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0006149 MONDO:0021091 True clear cell papillary cystadenoma papillary cystadenoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006150 MONDO:0002035 True colon Burkitt lymphoma colon lymphoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006150 MONDO:0007243 True colon Burkitt lymphoma Burkitt lymphoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006152 MONDO:0021400 True colon inflammatory polyp polyp of colon UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006153 MONDO:0006161 True colon juvenile polyp colorectal juvenile polyp UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006153 MONDO:0021400 True colon juvenile polyp polyp of colon UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006154 MONDO:0002035 True colon mucosa-associated lymphoid tissue lymphoma colon lymphoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006155 MONDO:0006162 True colon neuroendocrine tumor G1 colorectal neuroendocrine tumor G1 UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006155 MONDO:0015067 True colon neuroendocrine tumor G1 neuroendocrine tumor of the colon, well differentiated, low or intermediate grade tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -4155,10 +5748,6 @@ MONDO:0006157 MONDO:0006074 True colorectal adenosquamous carcinoma adenosquamou MONDO:0006158 MONDO:0018905 True colorectal diffuse large B-cell lymphoma diffuse large B-cell lymphoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006158 MONDO:0024656 True colorectal diffuse large B-cell lymphoma colorectal lymphoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006159 MONDO:0005335 True colorectal gastrointestinal stromal tumor colorectal neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006160 MONDO:0006231 True colorectal hamartoma gastrointestinal hamartoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006160 MONDO:0021392 True colorectal hamartoma polyp of large intestine UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006161 MONDO:0006160 True colorectal juvenile polyp colorectal hamartoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006161 MONDO:0006258 True colorectal juvenile polyp juvenile polyp UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006162 MONDO:0005335 True colorectal neuroendocrine tumor G1 colorectal neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006162 MONDO:0021533 True colorectal neuroendocrine tumor G1 intestinal neuroendocrine tumor G1 UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006163 MONDO:0005008 True colorectal serrated adenocarcinoma colorectal adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -4170,21 +5759,21 @@ MONDO:0006167 MONDO:0002120 True combined lung carcinoma neuroendocrine carcinom MONDO:0006167 MONDO:0005138 True combined lung carcinoma lung carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006167 MONDO:0005454 True combined lung carcinoma lung neuroendocrine neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006167 MONDO:0005853 True combined lung carcinoma malignant mixed neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006170 MONDO:0005328 True conjunctival disorder eye disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0006170 MONDO:0005328 True conjunctival disorder eye disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0006172 MONDO:0005073 True conjunctival nevus melanocytic nevus UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006172 MONDO:0006105 True conjunctival nevus benign conjunctival neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006173 MONDO:0002466 True conjunctival squamous cell carcinoma eye carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0006173 MONDO:0003454 True conjunctival squamous cell carcinoma conjunctival cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0006173 MONDO:0003454 True conjunctival squamous cell carcinoma conjunctival cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0006174 MONDO:0003924 True cortisol-producing adrenal cortex adenoma adrenal cortex adenoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006176 MONDO:0004993 True cribriform carcinoma carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006178 MONDO:0016238 True dedifferentiated solitary fibrous tumor solitary fibrous tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006179 MONDO:0017795 True desmoplastic ameloblastoma ameloblastoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006180 MONDO:0004972 True digestive system adenoma adenoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0006180 MONDO:0004972 True digestive system adenoma adenoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0006180 MONDO:0021223 True digestive system adenoma digestive system neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006181 MONDO:0002516 True digestive system carcinoma digestive system cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0006181 MONDO:0004993 True digestive system carcinoma carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0006181 MONDO:0002516 True digestive system carcinoma digestive system cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006181 MONDO:0004993 True digestive system carcinoma carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0006182 MONDO:0006181 True digestive system mixed adenoneuroendocrine carcinoma digestive system carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006183 MONDO:0000650 True disseminated peritoneal leiomyomatosis peritoneal benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0006183 MONDO:0000650 True disseminated peritoneal leiomyomatosis peritoneal benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0006183 MONDO:0003295 True disseminated peritoneal leiomyomatosis leiomyomatosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0006184 MONDO:0004658 True ductal breast carcinoma in situ and lobular carcinoma in situ breast carcinoma in situ UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006186 MONDO:0003198 True duodenal adenocarcinoma small intestine adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS @@ -4197,46 +5786,43 @@ MONDO:0006189 MONDO:0024240 True eccrine porocarcinoma eccrine carcinoma UNSUPPO MONDO:0006190 MONDO:0021096 True endolymphatic sac tumor papillary epithelial neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006190 MONDO:0024320 True endolymphatic sac tumor inner ear neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006191 MONDO:0005004 True endometrial clear cell adenocarcinoma clear cell adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0006191 MONDO:0005461 True endometrial clear cell adenocarcinoma endometrium adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0006191 MONDO:0005461 True endometrial clear cell adenocarcinoma endometrium adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0006192 MONDO:0005026 True endometrial endometrioid adenocarcinoma endometrioid adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006193 MONDO:0005043 True endometrial hyperplasia without atypia hyperplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006195 MONDO:0004701 True endometrial polyp uterine polyp UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006196 MONDO:0005278 True endometrial serous adenocarcinoma serous adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006197 MONDO:0000402 True endometrial small cell carcinoma small cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0006197 MONDO:0002447 True endometrial small cell carcinoma endometrial carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0006198 MONDO:0002447 True endometrial squamous cell carcinoma endometrial carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0006198 MONDO:0005096 True endometrial squamous cell carcinoma squamous cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0006198 MONDO:0002447 True endometrial squamous cell carcinoma endometrial carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006198 MONDO:0005096 True endometrial squamous cell carcinoma squamous cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0006199 MONDO:0002447 True endometrial undifferentiated carcinoma endometrial carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006199 MONDO:0005617 True endometrial undifferentiated carcinoma undifferentiated carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006200 MONDO:0002973 True epithelioid cell uveal melanoma epithelioid cell melanoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0006200 MONDO:0006486 True epithelioid cell uveal melanoma uveal melanoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0006201 MONDO:0001763 True ethmoid sinus adenoid cystic carcinoma ethmoid sinus cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0006200 MONDO:0002973 True epithelioid cell uveal melanoma epithelioid cell melanoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006200 MONDO:0006486 True epithelioid cell uveal melanoma uveal melanoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006201 MONDO:0001763 True ethmoid sinus adenoid cystic carcinoma ethmoid sinus cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0006201 MONDO:0006352 True ethmoid sinus adenoid cystic carcinoma paranasal sinus adenoid cystic carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006203 MONDO:0003090 True extrahepatic bile duct squamous cell carcinoma extrahepatic bile duct carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006206 MONDO:0002158 True fallopian tube carcinoma fallopian tube cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0006206 MONDO:0004993 True fallopian tube carcinoma carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0006206 MONDO:0002158 True fallopian tube carcinoma fallopian tube cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006206 MONDO:0004993 True fallopian tube carcinoma carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0006207 MONDO:0002928 True fallopian tube carcinosarcoma carcinosarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0006208 MONDO:0002746 True fallopian tube serous adenocarcinoma fallopian tube adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0006208 MONDO:0002746 True fallopian tube serous adenocarcinoma fallopian tube adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0006208 MONDO:0005278 True fallopian tube serous adenocarcinoma serous adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0006209 MONDO:0002616 True fibroblastic neoplasm mesenchymal cell neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006210 MONDO:0007256 True fibrolamellar hepatocellular carcinoma hepatocellular carcinoma UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0006211 MONDO:0024478 True fibrous hamartoma of infancy mesenchymal hamartoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006212 MONDO:0024483 True flat urothelial hyperplasia urothelial hyperplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006210 MONDO:0007256 True fibrolamellar hepatocellular carcinoma hepatocellular carcinoma UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0006213 MONDO:0021343 True floor of mouth mucoepidermoid carcinoma carcinoma of floor of mouth UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006213 MONDO:0044964 True floor of mouth mucoepidermoid carcinoma oral cavity mucoepidermoid carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006214 MONDO:0004970 True follicular variant thyroid gland papillary carcinoma adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006215 MONDO:0003220 True gallbladder adenocarcinoma gallbladder carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0006215 MONDO:0004970 True gallbladder adenocarcinoma adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0006215 MONDO:0003220 True gallbladder adenocarcinoma gallbladder carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006215 MONDO:0004970 True gallbladder adenocarcinoma adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0006216 MONDO:0006180 True gallbladder adenoma digestive system adenoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0006216 MONDO:0021253 True gallbladder adenoma gallbladder neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006216 MONDO:0021416 True gallbladder adenoma polyp of gallbladder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006217 MONDO:0006074 True gallbladder adenosquamous carcinoma adenosquamous carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0006218 MONDO:0021253 True gallbladder biliary intraepithelial neoplasia gallbladder neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006219 MONDO:0000402 True gallbladder small cell neuroendocrine carcinoma small cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0006219 MONDO:0003220 True gallbladder small cell neuroendocrine carcinoma gallbladder carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0006219 MONDO:0003220 True gallbladder small cell neuroendocrine carcinoma gallbladder carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0006219 MONDO:0024502 True gallbladder small cell neuroendocrine carcinoma gallbladder neuroendocrine neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006220 MONDO:0003220 True gallbladder squamous cell carcinoma gallbladder carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0006220 MONDO:0005096 True gallbladder squamous cell carcinoma squamous cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0006220 MONDO:0003220 True gallbladder squamous cell carcinoma gallbladder carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006220 MONDO:0005096 True gallbladder squamous cell carcinoma squamous cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0006221 MONDO:0006180 True gastric adenoma digestive system adenoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006221 MONDO:0008277 True gastric adenoma stomach polyp UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006221 MONDO:0021085 True gastric adenoma gastric neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -4244,36 +5830,34 @@ MONDO:0006222 MONDO:0003112 True gastric choriocarcinoma malignant gastric germ MONDO:0006222 MONDO:0003578 True gastric choriocarcinoma extragonadal nonseminomatous germ cell tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006222 MONDO:0005207 True gastric choriocarcinoma choriocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006223 MONDO:0018905 True gastric diffuse large B-cell lymphoma diffuse large B-cell lymphoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006224 MONDO:0006231 True gastric hamartomatous polyp gastrointestinal hamartoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006225 MONDO:0018876 True gastric mantle cell lymphoma mantle cell lymphoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006226 MONDO:0007650 True gastric mucosa-associated lymphoid tissue lymphoma MALT lymphoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006226 MONDO:0042493 True gastric mucosa-associated lymphoid tissue lymphoma gastric non-hodgkin lymphoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006227 MONDO:0005369 True gastric neuroendocrine tumor G1 carcinoid tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006227 MONDO:0015062 True gastric neuroendocrine tumor G1 gastric neuroendocrine tumor, well differentiated, low or intermediate grade UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006228 MONDO:0002512 True gastric papillary adenocarcinoma papillary adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0006228 MONDO:0005036 True gastric papillary adenocarcinoma gastric adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0006228 MONDO:0005036 True gastric papillary adenocarcinoma gastric adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0006229 MONDO:0000402 True gastric small cell neuroendocrine carcinoma small cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0006229 MONDO:0003111 True gastric small cell neuroendocrine carcinoma gastric neuroendocrine neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0006229 MONDO:0004950 True gastric small cell neuroendocrine carcinoma gastric carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0006230 MONDO:0004950 True gastric squamous cell carcinoma gastric carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0006230 MONDO:0005096 True gastric squamous cell carcinoma squamous cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0006231 MONDO:0006499 True gastrointestinal hamartoma hamartoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006231 MONDO:0024292 True gastrointestinal hamartoma gastrointestinal polyp UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006229 MONDO:0004950 True gastric small cell neuroendocrine carcinoma gastric carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006230 MONDO:0004950 True gastric squamous cell carcinoma gastric carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006230 MONDO:0005096 True gastric squamous cell carcinoma squamous cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0006233 MONDO:0002601 True gonadal teratoma teratoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006234 MONDO:0004647 True grade III prostatic intraepithelial neoplasia in situ carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0006234 MONDO:0004647 True grade III prostatic intraepithelial neoplasia in situ carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006234 MONDO:0005159 True grade III prostatic intraepithelial neoplasia prostate carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0006234 MONDO:0005193 True grade III prostatic intraepithelial neoplasia prostate intraepithelial neoplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006235 MONDO:0002547 True granular cell tumor nerve sheath neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0006237 MONDO:0006861 True granulocytic sarcoma myeloid sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006238 MONDO:0006373 True growth hormone-producing pituitary gland adenoma pituitary gland adenoma UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0006238 MONDO:0006373 True growth hormone-producing pituitary gland adenoma pituitary gland adenoma UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0006239 MONDO:0000448 True head and neck paraganglioma paraganglioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006239 MONDO:0005586 True head and neck paraganglioma head and neck neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006243 MONDO:0004970 True hepatoid adenocarcinoma adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0006243 MONDO:0004970 True hepatoid adenocarcinoma adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0006244 MONDO:0006116 True HER2 positive breast carcinoma breast carcinoma by gene expression profile UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006245 MONDO:0005004 True hidradenocarcinoma clear cell adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006245 MONDO:0005524 True hidradenocarcinoma sweat gland carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006246 MONDO:0002628 True high grade surface osteosarcoma peripheral osteosarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006247 MONDO:0015757 True histiocytic and dendritic cell neoplasm lymphoid hemopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006247 MONDO:0044881 True histiocytic and dendritic cell neoplasm hematopoietic and lymphoid cell neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006249 MONDO:0005079 True hyperplastic polyp polyp UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006250 MONDO:0000540 True ileal neuroendocrine tumor G1 small intestinal neuroendocrine tumor G1 UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006250 MONDO:0015065 True ileal neuroendocrine tumor G1 ileal neuroendocrine tumor, well differentiated, low or intermediate grade UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006254 MONDO:0004970 True intestinal type adenocarcinoma adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -4283,15 +5867,16 @@ MONDO:0006256 MONDO:0004989 True invasive breast carcinoma breast carcinoma UNSU MONDO:0006256 MONDO:0040677 True invasive breast carcinoma invasive carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006257 MONDO:0000540 True jejunal neuroendocrine tumor G1 small intestinal neuroendocrine tumor G1 UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006257 MONDO:0015064 True jejunal neuroendocrine tumor G1 jejunal neuroendocrine tumor, well differentiated, low or intermediate grade UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006258 MONDO:0006231 True juvenile polyp gastrointestinal hamartoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006260 MONDO:0005086 True kidney medullary carcinoma renal cell carcinoma UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006262 MONDO:0002475 True lacrimal gland adenoid cystic carcinoma lacrimal gland adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0006262 MONDO:0004971 True lacrimal gland adenoid cystic carcinoma adenoid cystic carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0006264 MONDO:0002358 True laryngeal adenoid cystic carcinoma laryngeal carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0006264 MONDO:0002358 True laryngeal adenoid cystic carcinoma laryngeal carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0006264 MONDO:0004971 True laryngeal adenoid cystic carcinoma adenoid cystic carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0006265 MONDO:0000402 True laryngeal small cell carcinoma small cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0006265 MONDO:0002038 True laryngeal small cell carcinoma head and neck carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0006265 MONDO:0002358 True laryngeal small cell carcinoma laryngeal carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0006265 MONDO:0015070 True laryngeal small cell carcinoma laryngeal neuroendocrine neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0006266 MONDO:0006055 True Leydig cell tumor sex cord-stromal tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0006266 MONDO:0006055 True Leydig cell tumor sex cord-stromal tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0006267 MONDO:0002404 True liver cavernous hemangioma liver hemangioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006267 MONDO:0003155 True liver cavernous hemangioma cavernous hemangioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006268 MONDO:0004695 True liver diffuse large B-cell lymphoma liver lymphoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -4310,13 +5895,14 @@ MONDO:0006277 MONDO:0020588 True lung lymphangioleiomyomatosis lung PEComa UNSUP MONDO:0006278 MONDO:0002363 True lung papilloma papilloma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006278 MONDO:0002732 True lung papilloma lung benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006279 MONDO:0006406 True lung sarcomatoid carcinoma sarcomatoid carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0006281 MONDO:0005061 True lung signet ring cell carcinoma lung adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0006284 MONDO:0000521 True major salivary gland carcinoma salivary gland carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006284 MONDO:0044743 True major salivary gland carcinoma major salivary gland cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006285 MONDO:0006284 True major salivary gland carcinoma ex pleomorphic adenoma major salivary gland carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006285 MONDO:0006403 True major salivary gland carcinoma ex pleomorphic adenoma salivary gland carcinoma ex pleomorphic adenoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006286 MONDO:0006284 True major salivary gland mucoepidermoid carcinoma major salivary gland carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006286 MONDO:0021009 True major salivary gland mucoepidermoid carcinoma salivary gland mucoepidermoid carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006287 MONDO:0002402 True malignancy in giant cell tumor of bone malignant giant cell tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0006287 MONDO:0002402 True malignancy in giant cell tumor of bone malignant giant cell tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0006287 MONDO:0021054 True malignancy in giant cell tumor of bone bone sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0006288 MONDO:0004974 True malignant adrenal gland pheochromocytoma adrenal gland pheochromocytoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0006288 MONDO:0021089 True malignant adrenal gland pheochromocytoma peripheral nervous system cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -4325,77 +5911,72 @@ MONDO:0006290 MONDO:0005040 True malignant germ cell tumor germ cell tumor UNSUP MONDO:0006291 MONDO:0021064 True malignant jugulotympanic paraganglioma jugulotympanic paraganglioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006291 MONDO:0021069 True malignant jugulotympanic paraganglioma malignant endocrine neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006291 MONDO:0021089 True malignant jugulotympanic paraganglioma peripheral nervous system cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006292 MONDO:0004992 True malignant mesothelioma cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0006292 MONDO:0005065 True malignant mesothelioma mesothelioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006292 MONDO:0004992 True malignant mesothelioma cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0006294 MONDO:0003274 True pleural cancer thoracic cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0006294 MONDO:0021065 True pleural cancer pleural neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006295 MONDO:0004992 True malignant urinary system neoplasm cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0006295 MONDO:0004992 True malignant urinary system neoplasm cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0006295 MONDO:0021066 True malignant urinary system neoplasm urinary system neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006297 MONDO:0001748 True maxillary sinus adenoid cystic carcinoma maxillary sinus carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0006297 MONDO:0001748 True maxillary sinus adenoid cystic carcinoma maxillary sinus carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0006297 MONDO:0006352 True maxillary sinus adenoid cystic carcinoma paranasal sinus adenoid cystic carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006298 MONDO:0003113 True mediastinal malignant germ cell tumor extragonadal germ cell cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006298 MONDO:0005843 True mediastinal malignant germ cell tumor mediastinal cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006298 MONDO:0021067 True mediastinal malignant germ cell tumor mediastinal germ cell tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006300 MONDO:0007959 True medullomyoblastoma with myogenic differentiation medulloblastoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0006301 MONDO:0002395 True metanephric adenoma renal adenoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0006300 MONDO:0007959 True medullomyoblastoma with myogenic differentiation medulloblastoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006301 MONDO:0002395 True metanephric adenoma renal adenoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0006302 MONDO:0004970 True micropapillary serous carcinoma adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006303 MONDO:0003190 True middle ear squamous cell carcinoma middle ear carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0006303 MONDO:0003190 True middle ear squamous cell carcinoma middle ear carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0006303 MONDO:0010150 True middle ear squamous cell carcinoma head and neck squamous cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0006304 MONDO:0004970 True minor salivary gland adenocarcinoma adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006304 MONDO:0045069 True minor salivary gland adenocarcinoma minor salivary gland carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006306 MONDO:0004988 True mixed lobular and ductal breast carcinoma breast adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006307 MONDO:0004972 True mixed somatotroph-lactotroph pituitary gland adenoma adenoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006309 MONDO:0004957 True mucinous gastric adenocarcinoma mucinous adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0006309 MONDO:0005036 True mucinous gastric adenocarcinoma gastric adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0006309 MONDO:0004957 True mucinous gastric adenocarcinoma mucinous adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006309 MONDO:0005036 True mucinous gastric adenocarcinoma gastric adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0006312 MONDO:0003342 True myofibroma benign perivascular tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0006314 MONDO:0002232 True nasal cavity polyp nasal cavity disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006314 MONDO:0005079 True nasal cavity polyp polyp UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006316 MONDO:0005462 True neuroblastic tumor primitive neuroectodermal tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006317 MONDO:0002547 True neurothekeoma nerve sheath neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006320 MONDO:0005105 True non-cutaneous melanoma melanoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006321 MONDO:0003924 True non-functioning adrenal cortex adenoma adrenal cortex adenoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006321 MONDO:0021119 True non-functioning adrenal cortex adenoma non-functioning endocrine neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006322 MONDO:0002887 True non-neoplastic bile duct disorder bile duct disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006324 MONDO:0006116 True normal breast-like subtype of breast carcinoma breast carcinoma by gene expression profile UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006325 MONDO:0002236 True ocular melanoma ocular cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0006325 MONDO:0002236 True ocular melanoma ocular cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0006325 MONDO:0005105 True ocular melanoma melanoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0006326 MONDO:0006325 True ocular melanoma with extraocular extension ocular melanoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006327 MONDO:0002466 True ocular sebaceous carcinoma eye carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006327 MONDO:0006962 True ocular sebaceous carcinoma sebaceous adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006329 MONDO:0002433 True olfactory neuroblastoma malignant cranial nerve neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0006329 MONDO:0002433 True olfactory neuroblastoma malignant cranial nerve neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0006329 MONDO:0002722 True olfactory neuroblastoma olfactory nerve neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0006329 MONDO:0002749 True olfactory neuroblastoma extracranial neuroblastoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0006330 MONDO:0037745 True ossifying fibromyxoid tumor fibromyxoid tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006335 MONDO:0002752 True ovarian endometrioid adenocarcinoma ovarian adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0006335 MONDO:0002752 True ovarian endometrioid adenocarcinoma ovarian adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0006335 MONDO:0003812 True ovarian endometrioid adenocarcinoma ovarian endometrial cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0006335 MONDO:0005026 True ovarian endometrioid adenocarcinoma endometrioid adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006336 MONDO:0006335 True ovarian endometrioid adenocarcinoma with squamous differentiation ovarian endometrioid adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006337 MONDO:0005133 True ovarian endometriosis endometriosis SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0006337 MONDO:0005558 True ovarian endometriosis ovarian disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0006337 MONDO:0005133 True ovarian endometriosis endometriosis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006337 MONDO:0005558 True ovarian endometriosis ovarian disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0006339 MONDO:0024387 True ovarian microcystic stromal tumor benign ovarian sex cord-stromal tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006340 MONDO:0000646 True ovarian serous adenofibroma ovarian benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0006340 MONDO:0000646 True ovarian serous adenofibroma ovarian benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0006340 MONDO:0024886 True ovarian serous adenofibroma serous adenofibroma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006343 MONDO:0005140 True ovarian transitional cell carcinoma ovarian carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0006343 MONDO:0006474 True ovarian transitional cell carcinoma transitional cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0006343 MONDO:0006474 True ovarian transitional cell carcinoma transitional cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0006344 MONDO:0005744 True ovarian yolk sac tumor yolk sac tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0006344 MONDO:0016096 True ovarian yolk sac tumor malignant non-dysgerminomatous germ cell tumor of ovary UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006345 MONDO:0016037 True palmar fibromatosis superficial Fibromatosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006346 MONDO:0004965 True pancreatic acinar cell carcinoma acinar cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0006346 MONDO:0006047 True pancreatic acinar cell carcinoma pancreatic adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0006346 MONDO:0006047 True pancreatic acinar cell carcinoma pancreatic adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0006347 MONDO:0005057 True pancreatic large cell neuroendocrine carcinoma large cell neuroendocrine carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006347 MONDO:0005893 True pancreatic large cell neuroendocrine carcinoma pancreatic endocrine carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006348 MONDO:0000402 True pancreatic small cell neuroendocrine carcinoma small cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006348 MONDO:0005893 True pancreatic small cell neuroendocrine carcinoma pancreatic endocrine carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006349 MONDO:0021077 True papillary cystic neoplasm cystic neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006349 MONDO:0021096 True papillary cystic neoplasm papillary epithelial neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006350 MONDO:0006474 True papillary transitional cell carcinoma transitional cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0006350 MONDO:0006474 True papillary transitional cell carcinoma transitional cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0006350 MONDO:0006509 True papillary transitional cell carcinoma papillary carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0006351 MONDO:0002380 True parachordoma myoepithelial tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0006352 MONDO:0000380 True paranasal sinus adenoid cystic carcinoma paranasal sinus carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006352 MONDO:0004971 True paranasal sinus adenoid cystic carcinoma adenoid cystic carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006353 MONDO:0005289 True paranasal sinus Schneiderian papilloma paranasal sinus neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006353 MONDO:0021078 True paranasal sinus Schneiderian papilloma glandular papilloma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006354 MONDO:0005043 True parathyroid hyperplasia hyperplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006355 MONDO:0004965 True parotid gland acinic cell carcinoma acinar cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006355 MONDO:0021331 True parotid gland acinic cell carcinoma carcinoma of parotid gland UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006356 MONDO:0021331 True parotid gland adenoid cystic carcinoma carcinoma of parotid gland UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -4405,29 +5986,26 @@ MONDO:0006357 MONDO:0021331 True parotid gland carcinoma ex pleomorphic adenoma MONDO:0006358 MONDO:0021331 True parotid gland squamous cell carcinoma carcinoma of parotid gland UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006358 MONDO:0044740 True parotid gland squamous cell carcinoma salivary gland squamous cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006359 MONDO:0006424 True neoplasm with perivascular epithelioid cell differentiation soft tissue neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006360 MONDO:0001325 True penile carcinoma penile cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0006360 MONDO:0004993 True penile carcinoma carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0006360 MONDO:0001325 True penile carcinoma penile cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006360 MONDO:0004993 True penile carcinoma carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0006361 MONDO:0016037 True penile fibromatosis superficial Fibromatosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006362 MONDO:0005065 True peritoneal mesothelioma mesothelioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006362 MONDO:0006901 True peritoneal mesothelioma peritoneal neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006363 MONDO:0006362 True peritoneal multicystic mesothelioma peritoneal mesothelioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006364 MONDO:0003688 True peritoneal well differentiated papillary mesothelioma well differentiated papillary mesothelioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006364 MONDO:0006362 True peritoneal well differentiated papillary mesothelioma peritoneal mesothelioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006365 MONDO:0006231 True Peutz-Jeghers polyp gastrointestinal hamartoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006366 MONDO:0006224 True Peutz-Jeghers polyp of the stomach gastric hamartomatous polyp UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006366 MONDO:0006365 True Peutz-Jeghers polyp of the stomach Peutz-Jeghers polyp UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006367 MONDO:0002038 True pharyngeal adenoid cystic carcinoma head and neck carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006367 MONDO:0004971 True pharyngeal adenoid cystic carcinoma adenoid cystic carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006367 MONDO:0005517 True pharyngeal adenoid cystic carcinoma pharynx cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006367 MONDO:0021345 True pharyngeal adenoid cystic carcinoma carcinoma of pharynx UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006368 MONDO:0005070 True phosphaturic mesenchymal tumor neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006369 MONDO:0024890 True pineal parenchymal tumor of intermediate differentiation pineal parenchymal cell neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006372 MONDO:0003257 True pituicytoma posterior pituitary gland neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0006373 MONDO:0004972 True pituitary gland adenoma adenoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0006373 MONDO:0017611 True pituitary gland adenoma pituitary tumor UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006374 MONDO:0002178 True placental choriocarcinoma placenta cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0006374 MONDO:0020550 True placental choriocarcinoma gestational choriocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0006375 MONDO:0006500 True placental hemangioma hemangioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0006372 MONDO:0003257 True pituicytoma posterior pituitary gland neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006372 MONDO:0016685 True pituicytoma low-grade astrocytoma UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006373 MONDO:0004972 True pituitary gland adenoma adenoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006373 MONDO:0017611 True pituitary gland adenoma pituitary tumor UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006374 MONDO:0002178 True placental choriocarcinoma placenta cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006374 MONDO:0020550 True placental choriocarcinoma gestational choriocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006375 MONDO:0006500 True placental hemangioma hemangioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0006375 MONDO:0021498 True placental hemangioma benign neoplasm of placenta UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006377 MONDO:0006109 True pleural biphasic mesothelioma malignant biphasic mesothelioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006378 MONDO:0005112 True pleural epithelioid mesothelioma malignant pleural mesothelioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -4442,13 +6020,12 @@ MONDO:0006386 MONDO:0015686 True primary peritoneal serous adenocarcinoma primar MONDO:0006387 MONDO:0018905 True primary pulmonary diffuse large B-cell lymphoma diffuse large B-cell lymphoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006387 MONDO:0020644 True primary pulmonary diffuse large B-cell lymphoma lung non-Hodgkin lymphoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006388 MONDO:0017582 True prolactin-producing pituitary gland carcinoma pituitary adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006389 MONDO:0002854 True prostate rhabdomyosarcoma prostate sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0006389 MONDO:0002854 True prostate rhabdomyosarcoma prostate sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0006389 MONDO:0005212 True prostate rhabdomyosarcoma rhabdomyosarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0006390 MONDO:0000402 True prostate small cell carcinoma small cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0006390 MONDO:0002477 True prostate small cell carcinoma prostate neuroendocrine neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0006390 MONDO:0005159 True prostate small cell carcinoma prostate carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0006391 MONDO:0006221 True pyloric gland adenoma gastric adenoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006392 MONDO:0021398 True rectal hyperplastic polyp polyp of rectum UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006393 MONDO:0000530 True rectal traditional serrated adenoma rectum adenoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006394 MONDO:0000530 True rectal tubular adenoma rectum adenoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006394 MONDO:0024660 True rectal tubular adenoma tubular adenoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -4468,13 +6045,14 @@ MONDO:0006404 MONDO:0000521 True salivary gland large cell carcinoma salivary gl MONDO:0006404 MONDO:0005232 True salivary gland large cell carcinoma large cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006405 MONDO:0000402 True salivary gland small cell carcinoma small cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006405 MONDO:0000521 True salivary gland small cell carcinoma salivary gland carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006406 MONDO:0004993 True sarcomatoid carcinoma carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0006406 MONDO:0004993 True sarcomatoid carcinoma carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0006406 MONDO:0020633 True sarcomatoid carcinoma anaplastic cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006407 MONDO:0006292 True sarcomatoid mesothelioma malignant mesothelioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0006407 MONDO:0006292 True sarcomatoid mesothelioma malignant mesothelioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0006408 MONDO:0003924 True sex hormone-producing adrenal cortex adenoma adrenal cortex adenoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006409 MONDO:0005036 True signet ring cell gastric adenocarcinoma gastric adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0006409 MONDO:0005036 True signet ring cell gastric adenocarcinoma gastric adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0006409 MONDO:0005092 True signet ring cell gastric adenocarcinoma signet ring cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0006411 MONDO:0005617 True sinonasal undifferentiated carcinoma undifferentiated carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006412 MONDO:0015531 True sinus histiocytosis with massive lymphadenopathy non-Langerhans cell histiocytosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006414 MONDO:0003363 True skin sarcoma malignant dermis tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0006414 MONDO:0018078 True skin sarcoma soft tissue sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006416 MONDO:0001852 True small intestinal Burkitt lymphoma small intestine lymphoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -4495,64 +6073,64 @@ MONDO:0006423 MONDO:0002360 True soft tissue chondroma chondroma UNSUPPORTED-MIS MONDO:0006423 MONDO:0044335 True soft tissue chondroma benign soft tissue neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006424 MONDO:0044334 True soft tissue neoplasm connective and soft tissue neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006426 MONDO:0000640 True spinal cord primitive neuroectodermal tumor central nervous system primitive neuroectodermal neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0006426 MONDO:0003544 True spinal cord primitive neuroectodermal tumor spinal cord cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0006427 MONDO:0005105 True spindle cell melanoma melanoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0006426 MONDO:0003544 True spinal cord primitive neuroectodermal tumor spinal cord cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006427 MONDO:0005105 True spindle cell melanoma melanoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0006428 MONDO:0018905 True splenic diffuse large B-cell lymphoma diffuse large B-cell lymphoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006429 MONDO:0004952 True splenic hodgkin lymphoma Hodgkins lymphoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006430 MONDO:0018876 True splenic mantle cell lymphoma mantle cell lymphoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006432 MONDO:0019004 True stromal predominant kidney Wilms tumor kidney Wilms tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0006432 MONDO:0019004 True stromal predominant kidney Wilms tumor kidney Wilms tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0006435 MONDO:0004724 True submandibular gland adenocarcinoma submandibular gland cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006435 MONDO:0004970 True submandibular gland adenocarcinoma adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006436 MONDO:0004724 True submandibular gland adenoid cystic carcinoma submandibular gland cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006436 MONDO:0045063 True submandibular gland adenoid cystic carcinoma major salivary gland adenoid cystic carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006438 MONDO:0044334 True synovial chondromatosis connective and soft tissue neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006442 MONDO:0005167 True tendon sheath fibroma fibroma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006444 MONDO:0002601 True teratoma with malignant transformation teratoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0006444 MONDO:0002601 True teratoma with malignant transformation teratoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0006446 MONDO:0002874 True testicular embryonal carcinoma testicular pure germ cell tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0006446 MONDO:0003403 True testicular embryonal carcinoma testicular non-seminomatous germ cell cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0006446 MONDO:0005440 True testicular embryonal carcinoma embryonal carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0006447 MONDO:0010108 True testicular non-seminomatous germ cell tumor testicular germ cell tumor UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0006451 MONDO:0002586 True thymic carcinoma thymus cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0006451 MONDO:0004993 True thymic carcinoma carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0006451 MONDO:0018079 True thymic carcinoma thymic epithelial neoplasm UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006446 MONDO:0005440 True testicular embryonal carcinoma embryonal carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006446 MONDO:0005564 True testicular embryonal carcinoma embryonal neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006447 MONDO:0010108 True testicular non-seminomatous germ cell tumor testicular germ cell tumor UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006451 MONDO:0002586 True thymic carcinoma thymus cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006451 MONDO:0004993 True thymic carcinoma carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006451 MONDO:0018079 True thymic carcinoma thymic epithelial neoplasm UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006452 MONDO:0006406 True thymic sarcomatoid carcinoma sarcomatoid carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0006452 MONDO:0006451 True thymic sarcomatoid carcinoma thymic carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0006452 MONDO:0006451 True thymic sarcomatoid carcinoma thymic carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0006455 MONDO:0005617 True thymic undifferentiated carcinoma undifferentiated carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006455 MONDO:0006451 True thymic undifferentiated carcinoma thymic carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006456 MONDO:0018079 True thymoma thymic epithelial neoplasm UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006458 MONDO:0016974 True thymoma type B3 thymoma type B UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0006459 MONDO:0016974 True thymoma type B1 thymoma type B UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0006456 MONDO:0018079 True thymoma thymic epithelial neoplasm UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006458 MONDO:0016974 True thymoma type B3 thymoma type B UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006459 MONDO:0016974 True thymoma type B1 thymoma type B UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0006462 MONDO:0018905 True thyroid gland diffuse large B-cell lymphoma diffuse large B-cell lymphoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006462 MONDO:0019962 True thyroid gland diffuse large B-cell lymphoma thyroid lymphoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006463 MONDO:0003036 True thyroid gland mucoepidermoid carcinoma mucoepidermoid carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0006464 MONDO:0007650 True thyroid gland mucosa-associated lymphoid tissue lymphoma MALT lymphoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006465 MONDO:0004970 True thyroid gland oncocytic follicular carcinoma adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006466 MONDO:0015075 True thyroid gland spindle cell tumor with thymus-like differentiation thyroid gland carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0006467 MONDO:0005096 True thyroid gland squamous cell carcinoma squamous cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006466 MONDO:0015075 True thyroid gland spindle cell tumor with thymus-like differentiation thyroid gland carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0006467 MONDO:0015075 True thyroid gland squamous cell carcinoma thyroid gland carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006468 MONDO:0005232 True thyroid gland undifferentiated (anaplastic) carcinoma large cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0006468 MONDO:0005617 True thyroid gland undifferentiated (anaplastic) carcinoma undifferentiated carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006468 MONDO:0015075 True thyroid gland undifferentiated (anaplastic) carcinoma thyroid gland carcinoma UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0006469 MONDO:0002422 True tibial adamantinoma adamantinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0006471 MONDO:0003184 True tracheal adenoid cystic carcinoma trachea carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0006468 MONDO:0015075 True thyroid gland undifferentiated (anaplastic) carcinoma thyroid gland carcinoma UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006469 MONDO:0002422 True tibial adamantinoma adamantinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006471 MONDO:0003184 True tracheal adenoid cystic carcinoma trachea carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0006471 MONDO:0004971 True tracheal adenoid cystic carcinoma adenoid cystic carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0006474 MONDO:0004993 True transitional cell carcinoma carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0006474 MONDO:0004993 True transitional cell carcinoma carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0006476 MONDO:0003220 True undifferentiated gallbladder carcinoma gallbladder carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006476 MONDO:0005617 True undifferentiated gallbladder carcinoma undifferentiated carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006477 MONDO:0005140 True undifferentiated ovarian carcinoma ovarian carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006477 MONDO:0005617 True undifferentiated ovarian carcinoma undifferentiated carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006478 MONDO:0005184 True undifferentiated pancreatic carcinoma pancreatic ductal adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006479 MONDO:0006478 True undifferentiated pancreatic carcinoma with osteoclast-like giant cells undifferentiated pancreatic carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006480 MONDO:0002142 True undifferentiated pleomorphic sarcoma, inflammatory variant undifferentiated pleomorphic sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0006481 MONDO:0004993 True ureter carcinoma carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0006481 MONDO:0008627 True ureter carcinoma ureter cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0006480 MONDO:0002142 True undifferentiated pleomorphic sarcoma, inflammatory variant undifferentiated pleomorphic sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006481 MONDO:0004993 True ureter carcinoma carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006481 MONDO:0008627 True ureter carcinoma ureter cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0006482 MONDO:0000402 True ureter small cell carcinoma small cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0006482 MONDO:0006481 True ureter small cell carcinoma ureter carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0006484 MONDO:0004007 True usual ductal breast hyperplasia breast intraductal proliferative lesion UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006484 MONDO:0005043 True usual ductal breast hyperplasia hyperplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006485 MONDO:0002715 True uterine carcinosarcoma uterine cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0006485 MONDO:0002715 True uterine carcinosarcoma uterine cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0006485 MONDO:0002928 True uterine carcinosarcoma carcinosarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0006486 MONDO:0002659 True uveal melanoma uveal cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0006486 MONDO:0002659 True uveal melanoma uveal cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0006486 MONDO:0006325 True uveal melanoma ocular melanoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0006487 MONDO:0004971 True vaginal adenoid cystic carcinoma adenoid cystic carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006488 MONDO:0037746 True vaginal carcinosarcoma malignant vaginal mixed epithelial and mesenchymal neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -4561,2484 +6139,5508 @@ MONDO:0006489 MONDO:0021050 True vaginal melanoma vaginal neoplasm UNSUPPORTED-M MONDO:0006490 MONDO:0001806 True vaginal squamous cell carcinoma vaginal squamous tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006490 MONDO:0005096 True vaginal squamous cell carcinoma squamous cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006490 MONDO:0015867 True vaginal squamous cell carcinoma vaginal carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006491 MONDO:0001938 True vulvar lichen sclerosus vulvar dystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006491 MONDO:0007899 True vulvar lichen sclerosus lichen sclerosus et atrophicus UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006493 MONDO:0036976 True Warthin tumor benign epithelial neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006497 MONDO:0006496 True cerebral palsy palsy SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006498 MONDO:0000527 True adenomatous colon polyp colon adenoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006498 MONDO:0021400 True adenomatous colon polyp polyp of colon UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006500 MONDO:0024286 True hemangioma benign blood vessel neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0006502 MONDO:0002254 True acute respiratory distress syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006507 MONDO:0001436 True hereditary hemochromatosis hemosiderosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0006509 MONDO:0004993 True papillary carcinoma carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0006504 MONDO:0005066 True acquired metabolic disease metabolic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006505 MONDO:0011057 True basal ganglia cerebrovascular disorder cerebrovascular disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006506 MONDO:0003689 True congenital nonspherocytic hemolytic anemia familial hemolytic anemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006507 MONDO:0004689 True hereditary hemochromatosis inborn metal metabolism disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006509 MONDO:0004993 True papillary carcinoma carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0006509 MONDO:0021096 True papillary carcinoma papillary epithelial neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006515 MONDO:0004982 True acute pancreatitis pancreatitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0006510 MONDO:0005240 True renal tubular transport disease kidney disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006515 MONDO:0004982 True acute pancreatitis pancreatitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0006517 MONDO:0004992 True childhood malignant neoplasm cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006517 MONDO:0021079 True childhood malignant neoplasm childhood neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006519 MONDO:0002165 True rectal cancer rectal neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0006519 MONDO:0005575 True rectal cancer colorectal cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0006520 MONDO:0002254 True Achenbach syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0006521 MONDO:0002406 True acneiform dermatitis dermatitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0006522 MONDO:0006566 True acquired keratosis keratosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0006523 MONDO:0002406 True acrodermatitis dermatitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0006525 MONDO:0005480 True allergic contact dermatitis contact dermatitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0006526 MONDO:0005492 True allergic urticaria urticaria SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0006532 MONDO:0002776 True cholesteatoma of external ear external ear disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0006533 MONDO:0003276 True cholesteatoma of middle ear middle ear disorder SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0006533 MONDO:0006530 True cholesteatoma of middle ear cholesteatoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0006539 MONDO:0006574 True diffuse lipomatosis lipomatosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0006544 MONDO:0005108 True erythema infectiosum viral infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0006545 MONDO:0005093 True erythema multiforme skin disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0006546 MONDO:0005093 True erythematosquamous dermatosis skin disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0006549 MONDO:0060765 True fibroepithelial polyp of the anus fibroepithelial polyp UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006549 MONDO:0060766 True fibroepithelial polyp of the anus anal polyp UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006550 MONDO:0004184 True fibroepithelial polyp of urethra urethral disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0006550 MONDO:0060765 True fibroepithelial polyp of urethra fibroepithelial polyp UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006552 MONDO:0002917 True folliculitis disorder of pilosebaceous unit UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0006555 MONDO:0002406 True granulomatous dermatitis dermatitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0006557 MONDO:0006500 True hemangioma of subcutaneous tissue hemangioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0006563 MONDO:0008420 True inverted follicular keratosis seborrheic keratosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0006564 MONDO:0005480 True irritant dermatitis contact dermatitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0006566 MONDO:0005093 True keratosis skin disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0006567 MONDO:0018477 True kernicterus due to isoimmunization bilirubin encephalopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0006572 MONDO:0002406 True lichen planus dermatitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0006573 MONDO:0005066 True lipodystrophy metabolic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0006519 MONDO:0005575 True rectal cancer colorectal cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006520 MONDO:0005093 True Achenbach syndrome skin disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006521 MONDO:0002406 True acneiform dermatitis dermatitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006522 MONDO:0006566 True acquired keratosis keratosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006523 MONDO:0002406 True acrodermatitis dermatitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006524 MONDO:0006523 True acrodermatitis chronica atrophicans acrodermatitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006525 MONDO:0005480 True allergic contact dermatitis contact dermatitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006526 MONDO:0005492 True allergic urticaria urticaria SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006527 MONDO:0006615 True anhidrosis sweat gland disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006528 MONDO:0006547 True bacterial exanthem exanthem UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006530 MONDO:0006566 True cholesteatoma keratosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006531 MONDO:0006533 True cholesteatoma of attic cholesteatoma of middle ear UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006532 MONDO:0002776 True cholesteatoma of external ear external ear disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006532 MONDO:0006530 True cholesteatoma of external ear cholesteatoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006533 MONDO:0003276 True cholesteatoma of middle ear middle ear disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006533 MONDO:0006530 True cholesteatoma of middle ear cholesteatoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006534 MONDO:0006599 True cholinergic urticaria physical urticaria UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006536 MONDO:0027766 True congenital generalized lipodystrophy generalized lipodystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006539 MONDO:0006574 True diffuse lipomatosis lipomatosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006540 MONDO:0006615 True dyshidrosis sweat gland disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006541 MONDO:0006617 True epidermolysis bullosa vesiculobullous skin disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006543 MONDO:0019276 True epidermolysis bullosa dystrophica inherited epidermolysis bullosa UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006544 MONDO:0005108 True erythema infectiosum viral infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006544 MONDO:0006619 True erythema infectiosum viral exanthem UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006545 MONDO:0005093 True erythema multiforme skin disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006546 MONDO:0005093 True erythematosquamous dermatosis skin disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006547 MONDO:0005093 True exanthem skin disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006548 MONDO:0005093 True facial dermatosis skin disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006550 MONDO:0004184 True fibroepithelial polyp of urethra urethral disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006551 MONDO:0006607 True alopecia mucinosa sebaceous gland disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006552 MONDO:0002406 True folliculitis dermatitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006552 MONDO:0002917 True folliculitis disorder of pilosebaceous unit UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006553 MONDO:0006615 True Fox-Fordyce disease sweat gland disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006554 MONDO:0002406 True granuloma annulare dermatitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006555 MONDO:0002406 True granulomatous dermatitis dermatitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006556 MONDO:0005093 True hand dermatosis skin disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006557 MONDO:0000652 True hemangioma of subcutaneous tissue integumentary system benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006557 MONDO:0006500 True hemangioma of subcutaneous tissue hemangioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006558 MONDO:0006594 True pemphigoid gestationis pemphigus UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006559 MONDO:0002260 True hidradenitis suppurativa hidradenitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006561 MONDO:0003382 True eyelid hypopigmentation eyelid disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006563 MONDO:0008420 True inverted follicular keratosis seborrheic keratosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006564 MONDO:0005480 True irritant dermatitis contact dermatitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006565 MONDO:0015614 True juvenile dermatitis herpetiformis dermatitis herpetiformis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006566 MONDO:0005093 True keratosis skin disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006569 MONDO:0005093 True leg dermatosis skin disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006570 MONDO:0005093 True lichen disease skin disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006571 MONDO:0006570 True lichen nitidus lichen disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006572 MONDO:0006570 True lichen planus lichen disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0006574 MONDO:0044983 True lipomatosis benign lipomatous neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006577 MONDO:0001735 True maxillary sinus cholesteatoma paranasal sinus disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0006577 MONDO:0006530 True maxillary sinus cholesteatoma cholesteatoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0006578 MONDO:0006574 True mediastinal lipomatosis lipomatosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0006579 MONDO:0008420 True melanoacanthoma seborrheic keratosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0006582 MONDO:0005093 True mongolian spot skin disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0006585 MONDO:0002406 True neurodermatitis dermatitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0006590 MONDO:0006566 True palmoplantar keratosis keratosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0006593 MONDO:0006574 True pelvic lipomatosis lipomatosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0006601 MONDO:0002406 True pityriasis rosea dermatitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0006603 MONDO:0005093 True reactive cutaneous fibrous lesion skin disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0006604 MONDO:0005093 True rosacea skin disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0006608 MONDO:0002406 True seborrheic dermatitis dermatitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0006610 MONDO:0005093 True skin atrophy skin disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0006611 MONDO:0005093 True skin sarcoidosis skin disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0006611 MONDO:0019338 True skin sarcoidosis sarcoidosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0006612 MONDO:0006574 True steroid lipomatosis lipomatosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0006620 MONDO:0021396 True vulva fibroepithelial polyp polyp of vulva UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006620 MONDO:0060765 True vulva fibroepithelial polyp fibroepithelial polyp UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006621 MONDO:0006563 True vulvar inverted follicular keratosis inverted follicular keratosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0006621 MONDO:0006622 True vulvar inverted follicular keratosis vulvar seborrheic keratosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0006576 MONDO:0005230 True Ludwig's angina cellulitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006577 MONDO:0001735 True maxillary sinus cholesteatoma paranasal sinus disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006577 MONDO:0006530 True maxillary sinus cholesteatoma cholesteatoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006578 MONDO:0006574 True mediastinal lipomatosis lipomatosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006579 MONDO:0008420 True melanoacanthoma seborrheic keratosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006580 MONDO:0006615 True miliaria sweat gland disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006581 MONDO:0006580 True miliaria rubra miliaria UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006582 MONDO:0005093 True mongolian spot skin disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006583 MONDO:0021154 True necrobiosis lipoidica dermis disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006585 MONDO:0002406 True neurodermatitis dermatitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006586 MONDO:0002406 True neurotic excoriation dermatitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006589 MONDO:0005480 True occupational dermatitis contact dermatitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006590 MONDO:0006566 True palmoplantar keratosis keratosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006591 MONDO:0002051 True panniculitis integumentary system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006592 MONDO:0005083 True parapsoriasis psoriasis UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006593 MONDO:0006574 True pelvic lipomatosis lipomatosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006594 MONDO:0019337 True pemphigus autoimmune bullous skin disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006596 MONDO:0006525 True photoallergic dermatitis allergic contact dermatitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006598 MONDO:0006564 True phototoxic dermatitis irritant dermatitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006599 MONDO:0005492 True physical urticaria urticaria UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006601 MONDO:0002406 True pityriasis rosea dermatitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006602 MONDO:0006566 True porokeratosis keratosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006602 MONDO:0019268 True porokeratosis epidermal disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006603 MONDO:0005093 True reactive cutaneous fibrous lesion skin disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006604 MONDO:0005093 True rosacea skin disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006605 MONDO:0005093 True scalp dermatosis skin disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006607 MONDO:0005093 True sebaceous gland disorder skin disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006608 MONDO:0002406 True seborrheic dermatitis dermatitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006609 MONDO:0006608 True seborrheic infantile dermatitis seborrheic dermatitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006610 MONDO:0005093 True skin atrophy skin disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006611 MONDO:0005093 True skin sarcoidosis skin disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006611 MONDO:0019338 True skin sarcoidosis sarcoidosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006612 MONDO:0006574 True steroid lipomatosis lipomatosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006614 MONDO:0019337 True subcorneal pustular dermatosis autoimmune bullous skin disease UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006615 MONDO:0005093 True sweat gland disorder skin disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006616 MONDO:0006525 True toxicodendron dermatitis allergic contact dermatitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006617 MONDO:0005093 True vesiculobullous skin disease skin disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006618 MONDO:0006599 True vibratory urticaria physical urticaria UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006619 MONDO:0006547 True viral exanthem exanthem UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006621 MONDO:0006563 True vulvar inverted follicular keratosis inverted follicular keratosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006621 MONDO:0006622 True vulvar inverted follicular keratosis vulvar seborrheic keratosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0006622 MONDO:0002195 True vulvar seborrheic keratosis vulvar squamous neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0006622 MONDO:0008420 True vulvar seborrheic keratosis seborrheic keratosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0006626 MONDO:0005244 True diabetic neuropathy peripheral neuropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0006629 MONDO:0005178 True osteoarthritis, hip osteoarthritis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006633 MONDO:0002155 True acalculous cholecystitis cholecystitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0006637 MONDO:0002492 True acute kidney tubular necrosis acute kidney failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0006622 MONDO:0008420 True vulvar seborrheic keratosis seborrheic keratosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006624 MONDO:0006026 True overactive bladder urinary bladder disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006626 MONDO:0005244 True diabetic neuropathy peripheral neuropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006633 MONDO:0002155 True acalculous cholecystitis cholecystitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006634 MONDO:0006373 True pituitary gland acidophil adenoma pituitary gland adenoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006637 MONDO:0002492 True acute kidney tubular necrosis acute kidney failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006638 MONDO:0002708 True acute retinal necrosis syndrome retinitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0006639 MONDO:0021312 True adrenal cortex carcinoma malignant tumor of adrenal cortex UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006644 MONDO:0005155 True alcoholic liver cirrhosis cirrhosis of liver UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0006644 MONDO:0043693 True alcoholic liver cirrhosis alcoholic liver diseases UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006645 MONDO:0001824 True alcoholic polyneuropathy polyneuropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0006641 MONDO:0004566 True afferent loop syndrome postgastrectomy syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006643 MONDO:0002824 True alcoholic cardiomyopathy extrinsic cardiomyopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006644 MONDO:0005155 True alcoholic liver cirrhosis cirrhosis of liver UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0006646 MONDO:0003342 True angioleiomyoma benign perivascular tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0006651 MONDO:0020283 True anterior uveitis uveitis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0006653 MONDO:0015926 True anthracosilicosis pneumoconiosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0006654 MONDO:0015926 True anthracosis pneumoconiosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0006656 MONDO:0018882 True aortitis vasculitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0006662 MONDO:0021108 True aseptic meningitis meningitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006665 MONDO:0005001 True chronic atrophic gastritis chronic gastritis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006666 MONDO:0003240 True atrophy of thyroid thyroid gland disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006668 MONDO:0003799 True bacterial conjunctivitis conjunctivitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0006668 MONDO:0005113 True bacterial conjunctivitis bacterial infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0006668 MONDO:0043885 True bacterial conjunctivitis eye infectious disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006670 MONDO:0004796 True bacterial meningitis infectious meningitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0006670 MONDO:0005113 True bacterial meningitis bacterial infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0006672 MONDO:0002036 True balanitis penile disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0006676 MONDO:0042976 True beriberi vitamin B deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006647 MONDO:0002679 True anterior cerebral artery infarction cerebral infarction UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006648 MONDO:0004001 True anterior compartment of tibia syndrome compartment syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006649 MONDO:0002135 True anterior ischemic optic neuropathy optic nerve disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006650 MONDO:0000473 True anterior spinal artery syndrome arterial disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006650 MONDO:0002254 True anterior spinal artery syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006651 MONDO:0020283 True anterior uveitis uveitis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006652 MONDO:0005068 True anterolateral myocardial infarction myocardial infarction UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006653 MONDO:0015926 True anthracosilicosis pneumoconiosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006654 MONDO:0015926 True anthracosis pneumoconiosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006655 MONDO:0003803 True aortic valve prolapse aortic valve disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006656 MONDO:0005561 True aortitis aortic disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006660 MONDO:0007004 True arthus reaction type III hypersensitivity disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006663 MONDO:0005087 True perinatal asphyxia respiratory system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006664 MONDO:0002078 True atrial septal defect heart septal defect UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006668 MONDO:0003799 True bacterial conjunctivitis conjunctivitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006668 MONDO:0005113 True bacterial conjunctivitis bacterial infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006670 MONDO:0004796 True bacterial meningitis infectious meningitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006670 MONDO:0005113 True bacterial meningitis bacterial infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006672 MONDO:0002036 True balanitis penile disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006673 MONDO:0004805 True pituitary gland basophil adenoma leukocyte disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006673 MONDO:0006373 True pituitary gland basophil adenoma pituitary gland adenoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006677 MONDO:0004868 True bile reflux biliary tract disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006678 MONDO:0004828 True bladder calculus lower urinary tract calculus UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006678 MONDO:0006026 True bladder calculus urinary bladder disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006679 MONDO:0006026 True bladder neck obstruction urinary bladder disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0006680 MONDO:0005073 True blue nevus melanocytic nevus UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006683 MONDO:0024432 True brachial plexus neuropathy nerve plexus disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0006687 MONDO:0002254 True burning mouth syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0006687 MONDO:0006858 True burning mouth syndrome mouth disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0006692 MONDO:0002562 True central pontine myelinolysis demyelinating disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0006694 MONDO:0005311 True cerebral atherosclerosis atherosclerosis UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0006700 MONDO:0002659 True choroid cancer uveal cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0006682 MONDO:0002122 True brachial plexus neuritis neuritis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006682 MONDO:0006683 True brachial plexus neuritis brachial plexus neuropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006684 MONDO:0005560 True brain edema brain disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006686 MONDO:0005394 True brain stem infarction brain infarction UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006687 MONDO:0006858 True burning mouth syndrome mouth disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006688 MONDO:0015926 True byssinosis pneumoconiosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006690 MONDO:0002907 True carotid artery thrombosis intracranial thrombosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006690 MONDO:0005269 True carotid artery thrombosis carotid artery disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006692 MONDO:0002562 True central pontine myelinolysis demyelinating disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006693 MONDO:0006808 True cerebral arterial disease intracranial arterial disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006694 MONDO:0005311 True cerebral atherosclerosis atherosclerosis UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006696 MONDO:0002256 True cervix erosion cervix disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006698 MONDO:0005281 True cholecystolithiasis gallbladder disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006699 MONDO:0002886 True choledocholithiasis common bile duct disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006700 MONDO:0002659 True choroid cancer uveal cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0006700 MONDO:0021258 True choroid cancer choroid neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006711 MONDO:0005904 True constrictive pericarditis pericarditis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0006701 MONDO:0006373 True chromophobe adenoma pituitary gland adenoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006710 MONDO:0005384 True complex partial epilepsy focal epilepsy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006711 MONDO:0005904 True constrictive pericarditis pericarditis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006712 MONDO:0000942 True corneal edema corneal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006713 MONDO:0003085 True corneal neovascularization keratitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006715 MONDO:0005010 True coronary stenosis coronary artery disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006716 MONDO:0000831 True coronary thrombosis thrombotic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006716 MONDO:0005010 True coronary thrombosis coronary artery disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0006717 MONDO:0002300 True cutaneous fibrous histiocytoma dermis tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0006717 MONDO:0002989 True cutaneous fibrous histiocytoma benign fibrous histiocytoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0006722 MONDO:0006999 True dental fluorosis tooth disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0006717 MONDO:0002989 True cutaneous fibrous histiocytoma benign fibrous histiocytoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006721 MONDO:0006816 True de Quervain disease arthropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006722 MONDO:0006999 True dental fluorosis tooth disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006723 MONDO:0004842 True denture stomatitis stomatitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006726 MONDO:0005728 True diaphragmatic eventration diaphragm disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006727 MONDO:0005009 True diastolic heart failure congestive heart failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006729 MONDO:0006987 True discrete subaortic stenosis subvalvular aortic stenosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006730 MONDO:0001423 True drug psychosis drug-induced mental disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006730 MONDO:0004630 True drug psychosis substance-induced psychosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0006731 MONDO:0005071 True drug-induced akathisia nervous system disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006733 MONDO:0002254 True dry eye syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0006733 MONDO:0001854 True dry eye syndrome lacrimal apparatus disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0006734 MONDO:0021375 True benign duodenal neoplasm tumor of duodenum UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006734 MONDO:0021501 True benign duodenal neoplasm benign neoplasm of small intestine UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006735 MONDO:0002866 True duodenogastric reflux duodenal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0006738 MONDO:0021489 True eccrine acrospiroma benign neoplasm of sweat gland UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006740 MONDO:0002254 True empty sella syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0006741 MONDO:0005560 True encephalomalacia brain disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0006742 MONDO:0005397 True endemic goiter goiter UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0006739 MONDO:0004989 True Ehrlich tumor carcinoma breast carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006740 MONDO:0003381 True empty sella syndrome pituitary gland disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006741 MONDO:0005560 True encephalomalacia brain disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006742 MONDO:0006873 True endemic goiter nutritional deficiency disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006744 MONDO:0004900 True endolymphatic hydrops peripheral vertigo UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006745 MONDO:0003311 True endometrioid stromal sarcoma endometrial stromal tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0006745 MONDO:0005089 True endometrioid stromal sarcoma sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0006745 MONDO:0011962 True endometrioid stromal sarcoma endometrial cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006746 MONDO:0005201 True endomyocardial fibrosis restrictive cardiomyopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0006749 MONDO:0005105 True mixed epithelioid and spindle cell melanoma melanoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006755 MONDO:0002254 True euthyroid sick syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0006755 MONDO:0003240 True euthyroid sick syndrome thyroid gland disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0006767 MONDO:0021658 True gastric antral vascular ectasia vascular ectasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006777 MONDO:0001165 True hairy tongue tongue disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0006754 MONDO:0003749 True esophageal diverticulosis esophageal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006755 MONDO:0003240 True euthyroid sick syndrome thyroid gland disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006757 MONDO:0001751 True extrahepatic cholestasis cholestasis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006759 MONDO:0001397 True femoral neuropathy mononeuropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006760 MONDO:0001245 True fetal erythroblastosis microcytic anemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006764 MONDO:0002041 True fungal meningitis fungal infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006764 MONDO:0004796 True fungal meningitis infectious meningitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006766 MONDO:0000665 True gait apraxia apraxia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006767 MONDO:0001574 True gastric antral vascular ectasia capillary disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006769 MONDO:0001318 True gastroparesis functional gastric disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006770 MONDO:0005674 True giant cell reparative granuloma bone giant cell tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006771 MONDO:0001165 True glossitis tongue disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006777 MONDO:0001165 True hairy tongue tongue disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0006778 MONDO:0005073 True halo nevus melanocytic nevus UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006779 MONDO:0005267 True heart aneurysm heart disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006782 MONDO:0002654 True hemometra uterine disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006783 MONDO:0002076 True hemopneumothorax pneumothorax UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006786 MONDO:0002405 True hepatic vein thrombosis hepatic vascular disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0006787 MONDO:0021489 True hidrocystoma benign neoplasm of sweat gland UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006790 MONDO:0002220 True hypercementosis tooth hard tissue disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0006794 MONDO:0018882 True hypersensitivity vasculitis vasculitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0006795 MONDO:0002332 True hypersplenism splenic disorder SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0006797 MONDO:0005283 True hypertensive retinopathy retinal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0006788 MONDO:0000365 True hydrophthalmos primary congenital glaucoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006790 MONDO:0002220 True hypercementosis tooth hard tissue disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006792 MONDO:0002610 True hyperglobulinemic purpura purpura UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006794 MONDO:0000605 True hypersensitivity vasculitis hypersensitivity reaction disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006795 MONDO:0002332 True hypersplenism splenic disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006796 MONDO:0006810 True hypertensive encephalopathy intracranial hypertension UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006797 MONDO:0005283 True hypertensive retinopathy retinal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006798 MONDO:0003916 True hypervitaminosis A overnutrition UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0006799 MONDO:0021211 True hypothalamic neoplasm brain neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006801 MONDO:0004251 True ileal neoplasm small intestine neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0006802 MONDO:0045072 True inappropriate ADH syndrome ectopic hormone secretion syndrome associated with neoplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006804 MONDO:0004988 True inflammatory breast carcinoma breast adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0006800 MONDO:0000665 True ideomotor apraxia apraxia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006801 MONDO:0004251 True ileal neoplasm small intestine neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006802 MONDO:0003381 True inappropriate ADH syndrome pituitary gland disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006803 MONDO:0005068 True inferior myocardial infarction myocardial infarction UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006804 MONDO:0004988 True inflammatory breast carcinoma breast adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0006804 MONDO:0006256 True inflammatory breast carcinoma invasive breast carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006806 MONDO:0020283 True intermediate uveitis uveitis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0006805 MONDO:0005010 True intermediate coronary syndrome coronary artery disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006806 MONDO:0020283 True intermediate uveitis uveitis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006807 MONDO:0005020 True intestinal perforation intestinal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006808 MONDO:0011057 True intracranial arterial disease cerebrovascular disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006809 MONDO:0011057 True intracranial embolism cerebrovascular disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006810 MONDO:0005560 True intracranial hypertension brain disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006811 MONDO:0005560 True intracranial hypotension brain disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006812 MONDO:0011057 True intracranial vasospasm cerebrovascular disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0006813 MONDO:0005073 True intradermal nevus melanocytic nevus UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006817 MONDO:0002628 True juxtacortical osteosarcoma peripheral osteosarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0006827 MONDO:0002254 True lateral medullary syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0006830 MONDO:0043243 True leukoplakia of penis leukoplakia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006814 MONDO:0002289 True iritis iris disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006815 MONDO:0000956 True jejunal cancer small intestine cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006817 MONDO:0002628 True juxtacortical osteosarcoma peripheral osteosarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006820 MONDO:0005240 True kidney cortex necrosis kidney disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006821 MONDO:0005240 True kidney papillary necrosis kidney disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006825 MONDO:0005429 True kuru prion disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006825 MONDO:0018926 True kuru human prion disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006826 MONDO:0001371 True kwashiorkor protein-energy malnutrition UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006827 MONDO:0006686 True lateral medullary syndrome brain stem infarction UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006828 MONDO:0002436 True nasal cavity and paranasal sinus lethal midline granuloma nasal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006830 MONDO:0002036 True leukoplakia of penis penile disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006831 MONDO:0004805 True leukostasis leukocyte disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006833 MONDO:0005397 True lingual goiter goiter UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006834 MONDO:0005515 True lip cancer oral cavity cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0006834 MONDO:0005627 True lip cancer head and neck cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0006834 MONDO:0021249 True lip cancer lip neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006835 MONDO:0002462 True lipoid nephrosis glomerulonephritis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0006840 MONDO:0021658 True lymphangiectasis vascular ectasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006836 MONDO:0006670 True Listeria meningitis bacterial meningitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006837 MONDO:0005338 True low tension glaucoma open-angle glaucoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006839 MONDO:0006664 True Lutembacher syndrome atrial septal defect UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0006841 MONDO:0002013 True lymphangioendothelioma lymphangioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006842 MONDO:0006359 True lymphangiomyoma neoplasm with perivascular epithelioid cell differentiation UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006843 MONDO:0005283 True macular holes retinal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0006849 MONDO:0002657 True mastitis breast disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0006850 MONDO:0005289 True maxillary sinus neoplasm paranasal sinus neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0006843 MONDO:0005283 True macular holes retinal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006846 MONDO:0005044 True malignant hypertension hypertensive disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006848 MONDO:0001371 True marasmus protein-energy malnutrition UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006849 MONDO:0002657 True mastitis breast disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006850 MONDO:0005289 True maxillary sinus neoplasm paranasal sinus neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0006853 MONDO:0006974 True mesenchymal chondrosarcoma small cell sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0006853 MONDO:0008977 True mesenchymal chondrosarcoma chondrosarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0006854 MONDO:0005070 True mesenchymoma neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0006853 MONDO:0008977 True mesenchymal chondrosarcoma chondrosarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006854 MONDO:0005070 True mesenchymoma neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006855 MONDO:0005294 True mesenteric vascular occlusion peripheral vascular disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0006856 MONDO:0005070 True mesothelial neoplasm neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006857 MONDO:0002679 True middle cerebral artery infarction cerebral infarction UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0006859 MONDO:0002369 True mucinous cystadenoma cystadenoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006859 MONDO:0024338 True mucinous cystadenoma mucinous neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006861 MONDO:0015667 True myeloid sarcoma acute myeloid leukemia by FAB classification UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006862 MONDO:0005336 True myofascial pain syndrome myopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0006863 MONDO:0018078 True myxosarcoma soft tissue sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006865 MONDO:0002508 True necrotizing ulcerative gingivitis gingivitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0006869 MONDO:0005397 True nodular goiter goiter UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0006873 MONDO:0005137 True nutritional deficiency disease nutritional disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0006881 MONDO:0005230 True orbital cellulitis cellulitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0006882 MONDO:0002329 True orchitis testicular disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0006883 MONDO:0008903 True malignant superior sulcus neoplasm lung cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0006864 MONDO:0001142 True necrotizing sialometaplasia salivary gland disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006865 MONDO:0002508 True necrotizing ulcerative gingivitis gingivitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006866 MONDO:0009688 True neonatal myasthenia gravis myasthenia gravis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006868 MONDO:0005020 True neurogenic bowel intestinal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006869 MONDO:0005397 True nodular goiter goiter UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006871 MONDO:0005207 True non-gestational choriocarcinoma choriocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006873 MONDO:0005137 True nutritional deficiency disease nutritional disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006874 MONDO:0001751 True obstructive jaundice cholestasis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006875 MONDO:0005328 True ocular hypertension eye disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006877 MONDO:0005558 True oophoritis ovarian disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006879 MONDO:0005885 True optic papillitis optic neuritis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006880 MONDO:0006858 True oral leukoedema mouth disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006881 MONDO:0001230 True orbital cellulitis acute orbital inflammation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006882 MONDO:0002329 True orchitis testicular disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006883 MONDO:0008903 True malignant superior sulcus neoplasm lung cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0006883 MONDO:0024813 True malignant superior sulcus neoplasm pulmonary sulcus neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006888 MONDO:0001824 True paraneoplastic polyneuropathy polyneuropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0006890 MONDO:0004972 True parathyroid gland adenoma adenoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0006890 MONDO:0021463 True parathyroid gland adenoma benign neoplasm of parathyroid gland UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0006884 MONDO:0004863 True panophthalmitis purulent endophthalmitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006886 MONDO:0005075 True thyroid gland papillary and follicular carcinoma thyroid gland papillary carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006887 MONDO:0000922 True parametritis pelvic inflammatory disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006889 MONDO:0006904 True paraphimosis phimosis UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006890 MONDO:0004972 True parathyroid gland adenoma adenoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006890 MONDO:0021463 True parathyroid gland adenoma benign neoplasm of parathyroid gland UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0006890 MONDO:0036976 True parathyroid gland adenoma benign epithelial neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006895 MONDO:0002036 True penile neoplasm penile disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0006891 MONDO:0005384 True partial motor epilepsy focal epilepsy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006892 MONDO:0005384 True partial sensory epilepsy focal epilepsy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006894 MONDO:0006816 True patellofemoral pain syndrome arthropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006895 MONDO:0002036 True penile neoplasm penile disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0006895 MONDO:0024582 True penile neoplasm male reproductive system neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006896 MONDO:0001409 True peptic esophagitis esophagitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006897 MONDO:0004508 True periapical granuloma periapical periodontitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006898 MONDO:0002471 True periarthritis bursitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006899 MONDO:0002021 True pericoronitis gingival disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006900 MONDO:0005240 True perinephritis kidney disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0006901 MONDO:0005070 True peritoneal neoplasm neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006903 MONDO:0003620 True peroneal nerve paralysis peripheral nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0006904 MONDO:0002036 True phimosis penile disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0006903 MONDO:0003620 True peroneal nerve paralysis peripheral nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006904 MONDO:0002036 True phimosis penile disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0006905 MONDO:0005073 True pigmented spindle cell nevus melanocytic nevus UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006907 MONDO:0002093 True pilar sheath acanthoma acanthoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0006920 MONDO:0002908 True prediabetes syndrome glucose metabolism disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0006926 MONDO:0005113 True haemophilus infectious disease bacterial infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006930 MONDO:0003569 True pseudobulbar palsy cranial nerve neuropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0006932 MONDO:0001208 True pulmonary edema acute respiratory failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006939 MONDO:0005247 True pyelonephritis bacterial urinary tract infection UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006941 MONDO:0005113 True rat-bite fever bacterial infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006948 MONDO:0002089 True retinal artery occlusion retinal vascular occlusion UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0006951 MONDO:0002089 True retinal vein occlusion retinal vascular occlusion UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0006952 MONDO:0005283 True retinopathy of prematurity retinal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0006955 MONDO:0005267 True rheumatic heart disease heart disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0006956 MONDO:0005113 True Rickettsiosis bacterial infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006907 MONDO:0002093 True pilar sheath acanthoma acanthoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006908 MONDO:0001259 True pituitary apoplexy pituitary gland infarction UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006908 MONDO:0019832 True pituitary apoplexy acquired pituitary hormone deficiency UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006912 MONDO:0005020 True pneumatosis cystoides intestinalis intestinal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006916 MONDO:0004868 True postcholecystectomy syndrome biliary tract disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006917 MONDO:0002679 True posterior cerebral artery infarction cerebral infarction UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006918 MONDO:0020283 True posterior uveitis uveitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006920 MONDO:0002908 True prediabetes syndrome glucose metabolism disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006931 MONDO:0005275 True pulmonary coin lesion lung disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006933 MONDO:0005275 True pulmonary plasma cell granuloma lung disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006935 MONDO:0006936 True pulmonary subvalvular stenosis pulmonary valve stenosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006936 MONDO:0003628 True pulmonary valve stenosis pulmonary valve disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006937 MONDO:0003394 True pulpitis dental pulp disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006939 MONDO:0006938 True pyelonephritis pyelitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006940 MONDO:0001459 True radial nerve lesion radial neuropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006945 MONDO:0002286 True renal artery obstruction renal artery disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006947 MONDO:0001105 True renovascular hypertension renal hypertension UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006948 MONDO:0002089 True retinal artery occlusion retinal vascular occlusion UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006949 MONDO:0002175 True retinal drusen degeneration of macula and posterior pole UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006950 MONDO:0002311 True retinal vasculitis retinal vascular disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006950 MONDO:0018882 True retinal vasculitis vasculitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006951 MONDO:0002089 True retinal vein occlusion retinal vascular occlusion UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006952 MONDO:0005283 True retinopathy of prematurity retinal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006953 MONDO:0002901 True Rh isoimmunization blood group incompatibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006955 MONDO:0005267 True rheumatic heart disease heart disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006960 MONDO:0001397 True sciatic neuropathy mononeuropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006961 MONDO:0005429 True scrapie prion disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0006962 MONDO:0004970 True sebaceous adenocarcinoma adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0006962 MONDO:0006973 True sebaceous adenocarcinoma skin appendage carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006962 MONDO:0037735 True sebaceous adenocarcinoma sebaceous gland cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006963 MONDO:0002297 True sebaceous gland neoplasm epidermal appendage tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0006964 MONDO:0001741 True secondary hyperparathyroidism hyperparathyroidism UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0006969 MONDO:0001142 True sialadenitis salivary gland disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0006964 MONDO:0001741 True secondary hyperparathyroidism hyperparathyroidism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006965 MONDO:0006816 True secondary hypertrophic osteoarthropathy arthropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006966 MONDO:0005559 True secondary Parkinson disease neurodegenerative disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006968 MONDO:0006816 True shoulder impingement syndrome arthropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006969 MONDO:0001142 True sialadenitis salivary gland disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006970 MONDO:0001142 True sialolithiasis salivary gland disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006972 MONDO:0005275 True silo filler disease lung disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0006973 MONDO:0002297 True skin appendage carcinoma epidermal appendage tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006973 MONDO:0002656 True skin appendage carcinoma skin carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006974 MONDO:0005089 True small cell sarcoma sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0006975 MONDO:0021545 True smooth muscle tumor myomatous neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006977 MONDO:0003150 True spermatocele male reproductive system disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0006978 MONDO:0002332 True splenic infarction splenic disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0006976 MONDO:0019954 True somatostatinoma pancreatic neuroendocrine tumor UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006977 MONDO:0003150 True spermatocele male reproductive system disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006978 MONDO:0002332 True splenic infarction splenic disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0006980 MONDO:0002372 True struma ovarii ovarian monodermal and highly specialized teratoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0006983 MONDO:0002254 True subclavian steal syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0006994 MONDO:0002254 True tarsal tunnel syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0006995 MONDO:0002254 True tethered spinal cord syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0006996 MONDO:0004425 True thyroid crisis hyperthyroidism UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0006981 MONDO:0000565 True subacute bacterial endocarditis infective endocarditis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006983 MONDO:0002254 True subclavian steal syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006986 MONDO:0005397 True substernal goiter goiter UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006987 MONDO:0042981 True subvalvular aortic stenosis aortic valve stenosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006989 MONDO:0004508 True suppurative periapical periodontitis periapical periodontitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006990 MONDO:0020283 True suppurative uveitis uveitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006993 MONDO:0005009 True systolic heart failure congestive heart failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006994 MONDO:0006997 True tarsal tunnel syndrome tibial neuropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006995 MONDO:0002545 True tethered spinal cord syndrome spinal cord disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006997 MONDO:0001397 True tibial neuropathy mononeuropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0006998 MONDO:0021250 True tonsil cancer tonsil neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006999 MONDO:0006858 True tooth disorder mouth disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0007002 MONDO:0003569 True trochlear nerve disorder cranial nerve neuropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0007004 MONDO:0000605 True type III hypersensitivity disease hypersensitivity reaction disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0007009 MONDO:0001926 True ureterolithiasis ureteral disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0007015 MONDO:0004796 True viral meningitis infectious meningitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0007016 MONDO:0024298 True vitamin A deficiency vitamin deficiency disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007023 MONDO:0005113 True Yersinia infectious disease bacterial infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007027 MONDO:0002251 True metabolic dysfunction-associated steatohepatitis hepatitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0007027 MONDO:0013209 True metabolic dysfunction-associated steatohepatitis metabolic dysfunction-associated steatotic liver disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0007029 MONDO:0002254 True branchio-oto-renal syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0007032 MONDO:0002254 True prune belly syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0007033 MONDO:0002782 True abducens nerve palsy cranial nerve palsy UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0006999 MONDO:0006858 True tooth disorder mouth disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0007002 MONDO:0003569 True trochlear nerve disorder cranial nerve neuropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0007002 MONDO:0003620 True trochlear nerve disorder peripheral nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0007004 MONDO:0000605 True type III hypersensitivity disease hypersensitivity reaction disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0007006 MONDO:0001397 True ulnar neuropathy mononeuropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0007008 MONDO:0001106 True uremia kidney failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0007009 MONDO:0001926 True ureterolithiasis ureteral disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0007011 MONDO:0019338 True uveoparotid fever sarcoidosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0007012 MONDO:0018686 True variant Creutzfeldt-Jakob disease acquired Creutzfeldt-Jakob disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007013 MONDO:0005362 True vasculogenic impotence erectile dysfunction UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0007015 MONDO:0004796 True viral meningitis infectious meningitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0007017 MONDO:0004860 True vitreous detachment vitreous disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0007018 MONDO:0002187 True vulvitis vulvar disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0007020 MONDO:0005560 True Wernicke encephalopathy brain disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0007022 MONDO:0001110 True xanthogranulomatous pyelonephritis chronic pyelonephritis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0007027 MONDO:0013209 True metabolic dysfunction-associated steatohepatitis metabolic dysfunction-associated steatotic liver disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0007029 MONDO:0000426 True branchio-oto-renal syndrome autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0007029 MONDO:0002254 True branchio-oto-renal syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0007029 MONDO:0015161 True branchio-oto-renal syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007030 MONDO:0000426 True autosomal dominant Aarskog syndrome autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0007030 MONDO:0021005 True autosomal dominant Aarskog syndrome faciodigitogenital syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0007032 MONDO:0002254 True prune belly syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0007032 MONDO:0018559 True prune belly syndrome fetal lower urinary tract obstruction UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007033 MONDO:0002782 True abducens nerve palsy cranial nerve palsy UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0007033 MONDO:0020594 True abducens nerve palsy abducens nerve disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007035 MONDO:0002406 True acanthosis nigricans dermatitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0007036 MONDO:0002254 True Achard syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0007039 MONDO:0021061 True neurofibromatosis type 2 neurofibromatosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0007041 MONDO:0019796 True Apert syndrome acrocephalosyndactyly UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007042 MONDO:0019796 True Saethre-Chotzen syndrome acrocephalosyndactyly UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0007034 MONDO:0018234 True Adams-Oliver syndrome dysostosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0007034 MONDO:0019054 True Adams-Oliver syndrome congenital limb malformation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007036 MONDO:0002254 True Achard syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0007037 MONDO:0005516 True Achondroplasia osteochondrodysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0007037 MONDO:0019685 True Achondroplasia FGFR3-related chondrodysplasia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007042 MONDO:0019796 True Saethre-Chotzen syndrome acrocephalosyndactyly UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0007044 MONDO:0019797 True Acrodysostosis 1 with or without hormone resistance acrodysostosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0007045 MONDO:0015159 True acrofacial dysostosis, Catania type multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007045 MONDO:0018237 True acrofacial dysostosis, Catania type acrofacial dysostosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0007046 MONDO:0006566 True hereditary papulotranslucent acrokeratoderma keratosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0007047 MONDO:0017675 True punctate palmoplantar keratoderma type III punctate palmoplantar keratoderma UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0007048 MONDO:0006566 True acrokeratosis verruciformis keratosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0007052 MONDO:0017824 True growth hormone secreting pituitary adenoma 1 familial isolated pituitary adenoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0007053 MONDO:0100170 True restless legs syndrome, susceptibility to, 1 restless legs syndrome, susceptibility to UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0007060 MONDO:0004983 True spermatogenic failure 6 spermatogenic failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0007080 MONDO:0016525 True glucocorticoid-remediable aldosteronism familial hyperaldosteronism UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0007055 MONDO:0019695 True Acromicric dysplasia acromelic dysplasia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007057 MONDO:0000426 True Acroosteolysis dominant type autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0007058 MONDO:0015929 True Acropectorovertebral dysplasia thoracic malformation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007059 MONDO:0015161 True acrorenal syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007060 MONDO:0004983 True spermatogenic failure 6 spermatogenic failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0007060 MONDO:0015746 True spermatogenic failure 6 male infertility due to globozoospermia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0007062 MONDO:0018234 True adactylia, unilateral dysostosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007062 MONDO:0019713 True adactylia, unilateral non-syndromic limb reduction defect UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007064 MONDO:0017855 True severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency T-B- severe combined immunodeficiency UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007064 MONDO:0019236 True severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency inborn disorder of purine metabolism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007064 MONDO:0031520 True severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency familial severe combined immunodeficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0007068 MONDO:0004736 True adenylosuccinate lyase deficiency inborn disorder of amino acid metabolism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0007068 MONDO:0019236 True adenylosuccinate lyase deficiency inborn disorder of purine metabolism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007070 MONDO:0006574 True adiposis dolorosa lipomatosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0007070 MONDO:0019296 True adiposis dolorosa subcutaneous tissue disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007072 MONDO:0000426 True ADULT syndrome autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0007072 MONDO:0018234 True ADULT syndrome dysostosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0007072 MONDO:0019054 True ADULT syndrome congenital limb malformation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007072 MONDO:0019287 True ADULT syndrome ectodermal dysplasia syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS +MONDO:0007073 MONDO:0017139 True Hypoglossia-hypodactyly syndrome oromandibular-limb hypogenesis syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007073 MONDO:0019054 True Hypoglossia-hypodactyly syndrome congenital limb malformation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007074 MONDO:0003900 True ainhum connective tissue disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0007077 MONDO:0019290 True Tietz syndrome hypopigmentation of the skin UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007078 MONDO:0019695 True pseudohypoparathyroidism type 1A acromelic dysplasia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007078 MONDO:0019992 True pseudohypoparathyroidism type 1A pseudohypoparathyroidism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0007080 MONDO:0016525 True glucocorticoid-remediable aldosteronism familial hyperaldosteronism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0007082 MONDO:0000005 True alopecia areata 1 alopecia, isolated UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0007083 MONDO:0017666 True autosomal dominant palmoplantar keratoderma and congenital alopecia diffuse palmoplantar keratoderma UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007083 MONDO:0019287 True autosomal dominant palmoplantar keratoderma and congenital alopecia ectodermal dysplasia syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED MONDO:0007084 MONDO:0000005 True familial focal alopecia alopecia, isolated UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0007086 MONDO:0018965 True autosomal dominant Alport syndrome Alport syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0007086 MONDO:0000426 True autosomal dominant Alport syndrome autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0007086 MONDO:0018965 True autosomal dominant Alport syndrome Alport syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED MONDO:0007087 MONDO:0016241 True alternating hemiplegia of childhood 1 alternating hemiplegia of childhood UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0007093 MONDO:0019507 True hypomaturation-hypoplastic amelogenesis imperfecta with taurodontism amelogenesis imperfecta UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0007092 MONDO:0000426 True amelogenesis imperfecta type 1B autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0007093 MONDO:0019507 True hypomaturation-hypoplastic amelogenesis imperfecta with taurodontism amelogenesis imperfecta UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0007095 MONDO:0019287 True ameloonychohypohidrotic syndrome ectodermal dysplasia syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0007097 MONDO:0018102 True Finnish type amyloidosis corneal dystrophy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0007097 MONDO:0018634 True Finnish type amyloidosis hereditary amyloidosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007097 MONDO:0020127 True Finnish type amyloidosis hereditary peripheral neuropathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007098 MONDO:0005620 True ACys amyloidosis cerebral amyloid angiopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0007099 MONDO:0018634 True familial visceral amyloidosis hereditary amyloidosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007100 MONDO:0018634 True familial amyloid neuropathy hereditary amyloidosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007100 MONDO:0020127 True familial amyloid neuropathy hereditary peripheral neuropathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007101 MONDO:0015301 True familial primary localized cutaneous amyloidosis primary cutaneous amyloidosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007103 MONDO:0005144 True amyotrophic lateral sclerosis type 1 familial amyotrophic lateral sclerosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0007105 MONDO:0005144 True frontotemporal dementia and/or amyotrophic lateral sclerosis 1 familial amyotrophic lateral sclerosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0007105 MONDO:0017161 True frontotemporal dementia and/or amyotrophic lateral sclerosis 1 frontotemporal dementia with motor neuron disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0007108 MONDO:0000405 True anal canal carcinoma anal canal cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0007108 MONDO:0003199 True anal canal carcinoma anal carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0007109 MONDO:0019403 True congenital dyserythropoietic anemia type 3 congenital dyserythropoietic anemia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0007110 MONDO:0015253 True Diamond-Blackfan anemia 1 Diamond-Blackfan anemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0007111 MONDO:0016483 True aneurysm, intracranial berry type 1 intracranial berry aneurysm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0007113 MONDO:0002254 True Angelman syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0007108 MONDO:0018516 True anal canal carcinoma epithelial tumor of anal canal UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007109 MONDO:0019403 True congenital dyserythropoietic anemia type 3 congenital dyserythropoietic anemia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0007110 MONDO:0015253 True Diamond-Blackfan anemia 1 Diamond-Blackfan anemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0007111 MONDO:0016483 True aneurysm, intracranial berry type 1 intracranial berry aneurysm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0007112 MONDO:0019512 True interventricular septum aneurysm congenital heart malformation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007113 MONDO:0002254 True Angelman syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0007114 MONDO:0019695 True Angel-shaped phalango-epiphyseal dysplasia acromelic dysplasia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007116 MONDO:0019755 True hereditary neurocutaneous angioma developmental defect during embryogenesis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007118 MONDO:0006527 True isolated anhidrosis with normal sweat glands anhidrosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0007118 MONDO:0019296 True isolated anhidrosis with normal sweat glands subcutaneous tissue disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007118 MONDO:0021154 True isolated anhidrosis with normal sweat glands dermis disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007124 MONDO:0018234 True ankyloblepharon-ectodermal defects-cleft lip/palate syndrome dysostosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0007124 MONDO:0019054 True ankyloblepharon-ectodermal defects-cleft lip/palate syndrome congenital limb malformation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007124 MONDO:0019287 True ankyloblepharon-ectodermal defects-cleft lip/palate syndrome ectodermal dysplasia syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED +MONDO:0007125 MONDO:0001165 True ankyloglossia tongue disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0007126 MONDO:0024512 True spondyloarthropathy, susceptibility to, 1 spondyloarthropathy, susceptibility to UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0007127 MONDO:0002185 True diffuse idiopathic skeletal hyperostosis hyperostosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0007129 MONDO:0005486 True tooth agenesis, selective, 1 tooth agenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0007138 MONDO:0019503 True anterior segment dysgenesis 1 anterior segment dysgenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0007142 MONDO:0002254 True Townes-Brocks syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0007147 MONDO:0002254 True obstructive sleep apnea syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0007147 MONDO:0005296 True obstructive sleep apnea syndrome sleep apnea syndrome SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0007130 MONDO:0017705 True congenital total pulmonary venous return anomaly congenital pulmonary venous return anomaly UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007131 MONDO:0019287 True anonychia with flexural pigmentation ectodermal dysplasia syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0007134 MONDO:0018234 True Cooks syndrome dysostosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007134 MONDO:0019054 True Cooks syndrome congenital limb malformation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007137 MONDO:0018751 True isolated congenital anosmia hereditary otorhinolaryngologic disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007138 MONDO:0019503 True anterior segment dysgenesis 1 anterior segment dysgenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0007142 MONDO:0000426 True Townes-Brocks syndrome autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0007142 MONDO:0002254 True Townes-Brocks syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0007142 MONDO:0015161 True Townes-Brocks syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007142 MONDO:0019054 True Townes-Brocks syndrome congenital limb malformation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007143 MONDO:0015159 True aortic arch anomaly-facial dysmorphism-intellectual disability syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007145 MONDO:0019294 True aplasia cutis congenita mixed dermis disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007147 MONDO:0005296 True obstructive sleep apnea syndrome sleep apnea syndrome SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0007150 MONDO:0001515 True arcus senilis corneal degeneration UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0007152 MONDO:0016342 True arrhythmogenic right ventricular dysplasia 1 familial isolated arrhythmogenic right ventricular dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0007154 MONDO:0001256 True arteriovenous malformations of the brain arteriovenous hemangioma/malformation UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0007158 MONDO:0019942 True arthrogryposis- oculomotor limitation-electroretinal anomalies syndrome distal arthrogryposis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0007159 MONDO:0019942 True arthrogryposis-like hand anomaly-sensorineural deafness syndrome distal arthrogryposis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0007160 MONDO:0019354 True Stickler syndrome type 1 Stickler syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0007161 MONDO:0004983 True spermatogenic failure 2 spermatogenic failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0007163 MONDO:0016227 True episodic ataxia type 2 hereditary episodic ataxia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0007157 MONDO:0015240 True arthrogryposis, distal, type 1A digitotalar dysmorphism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0007158 MONDO:0019942 True arthrogryposis- oculomotor limitation-electroretinal anomalies syndrome distal arthrogryposis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0007159 MONDO:0019942 True arthrogryposis-like hand anomaly-sensorineural deafness syndrome distal arthrogryposis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0007160 MONDO:0019354 True Stickler syndrome type 1 Stickler syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0007160 MONDO:0022800 True Stickler syndrome type 1 type 2 collagenopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007161 MONDO:0004983 True spermatogenic failure 2 spermatogenic failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0007163 MONDO:0016227 True episodic ataxia type 2 hereditary episodic ataxia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0007164 MONDO:0017846 True spastic ataxia 1 autosomal dominant spastic ataxia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007165 MONDO:0017846 True spastic ataxia 7 autosomal dominant spastic ataxia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007167 MONDO:0000389 True atelosteogenesis type I atelosteogenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0007167 MONDO:0019690 True atelosteogenesis type I filamin-related bone disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007168 MONDO:0000389 True atelosteogenesis type III atelosteogenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0007172 MONDO:0006664 True atrial septal defect 1 atrial septal defect UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0007173 MONDO:0006664 True atrial septal defect 7 atrial septal defect UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0007179 MONDO:0005046 True autoimmune disease immune system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0007168 MONDO:0019690 True atelosteogenesis type III filamin-related bone disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007172 MONDO:0006664 True atrial septal defect 1 atrial septal defect UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0007173 MONDO:0006664 True atrial septal defect 7 atrial septal defect UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0007174 MONDO:0002254 True Lown-Ganong-Levine syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0007179 MONDO:0005046 True autoimmune disease immune system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0007182 MONDO:0015548 True Machado-Joseph disease Huntington disease-like syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007182 MONDO:0019792 True Machado-Joseph disease autosomal dominant cerebellar ataxia type I UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007184 MONDO:0000005 True alopecia, androgenetic, 1 alopecia, isolated UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0007186 MONDO:0003749 True gastroesophageal reflux disease esophageal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0007187 MONDO:0015356 True nevoid basal cell carcinoma syndrome hereditary neoplastic syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007187 MONDO:0042983 True nevoid basal cell carcinoma syndrome neurocutaneous syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007191 MONDO:0002254 True Behcet disease syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0007193 MONDO:0005388 True primary biliary cholangitis 1 primary biliary cholangitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0007187 MONDO:0000426 True nevoid basal cell carcinoma syndrome autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0007187 MONDO:0015356 True nevoid basal cell carcinoma syndrome hereditary neoplastic syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007187 MONDO:0019755 True nevoid basal cell carcinoma syndrome developmental defect during embryogenesis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007193 MONDO:0005388 True primary biliary cholangitis 1 primary biliary cholangitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0007194 MONDO:0003803 True familial bicuspid aortic valve aortic valve disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0007197 MONDO:0006026 True bladder diverticulum urinary bladder disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0007198 MONDO:0015161 True Ascher syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007200 MONDO:0015159 True blepharonasofacial malformation syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007201 MONDO:0008537 True blepharophimosis, ptosis, and epicanthus inversus syndrome telecanthus UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0007203 MONDO:0015356 True blue rubber bleb nevus hereditary neoplastic syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007203 MONDO:0019293 True blue rubber bleb nevus skin vascular disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007204 MONDO:0016085 True Cole-Carpenter syndrome 1 Cole-Carpenter syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0007219 MONDO:0019696 True Osebold-Remondini syndrome acromesomelic dysplasia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0007240 MONDO:0007263 True progressive familial heart block, type 1A cardiac rhythm disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007240 MONDO:0019490 True progressive familial heart block, type 1A progressive familial heart block UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0007243 MONDO:0004949 True Burkitt lymphoma neoplasm of mature B-cells UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0007243 MONDO:0017595 True Burkitt lymphoma aggressive B-cell non-Hodgkin lymphoma UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007244 MONDO:0002185 True Caffey disease hyperostosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0007252 MONDO:0019942 True Gordon syndrome distal arthrogryposis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0007205 MONDO:0018230 True diaphyseal medullary stenosis-bone malignancy syndrome skeletal dysplasia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007205 MONDO:0019060 True diaphyseal medullary stenosis-bone malignancy syndrome bone neoplasm UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007207 MONDO:0019287 True Böök syndrome ectodermal dysplasia syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0007208 MONDO:0005516 True Boomerang dysplasia osteochondrodysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0007208 MONDO:0019690 True Boomerang dysplasia filamin-related bone disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007209 MONDO:0019698 True Weismann-Netter syndrome bent bone dysplasia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007211 MONDO:0002254 True brachydactyly-arterial hypertension syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0007211 MONDO:0018234 True brachydactyly-arterial hypertension syndrome dysostosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0007211 MONDO:0019054 True brachydactyly-arterial hypertension syndrome congenital limb malformation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007212 MONDO:0016432 True brachydactyly-long thumb syndrome heart-hand syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007213 MONDO:0021004 True Ballard syndrome brachydactyly UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0007214 MONDO:0019054 True brachydactyly-preaxial hallux varus syndrome congenital limb malformation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007215 MONDO:0021004 True brachydactyly type A1 brachydactyly UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0007216 MONDO:0021004 True brachydactyly type A2 brachydactyly UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0007217 MONDO:0021004 True brachydactyly type A3 brachydactyly UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0007218 MONDO:0021004 True brachydactyly type A4 brachydactyly UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0007219 MONDO:0019696 True Osebold-Remondini syndrome acromesomelic dysplasia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0007219 MONDO:0021004 True Osebold-Remondini syndrome brachydactyly UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0007220 MONDO:0019676 True brachydactyly type B1 brachydactyly type B UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007221 MONDO:0021004 True brachydactyly type C brachydactyly UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0007222 MONDO:0021004 True brachydactyly type D brachydactyly UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0007225 MONDO:0018234 True fibular aplasia-ectrodactyly syndrome dysostosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007225 MONDO:0019054 True fibular aplasia-ectrodactyly syndrome congenital limb malformation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007226 MONDO:0015159 True brachydactyly-nystagmus-cerebellar ataxia syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007230 MONDO:0019054 True Brachymorphism-onychodysplasia-dysphalangism syndrome congenital limb malformation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007231 MONDO:0015161 True brachytelephalangy-dysmorphism-Kallmann syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007231 MONDO:0015770 True brachytelephalangy-dysmorphism-Kallmann syndrome congenital hypogonadotropic hypogonadism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007231 MONDO:0018234 True brachytelephalangy-dysmorphism-Kallmann syndrome dysostosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007231 MONDO:0019054 True brachytelephalangy-dysmorphism-Kallmann syndrome congenital limb malformation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007232 MONDO:0015262 True autosomal dominant brachyolmia brachyolmia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007232 MONDO:0018240 True autosomal dominant brachyolmia TRPV4-related bone disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007233 MONDO:0015476 True second branchial cleft anomaly cysts and fistulae of the face and oral cavity UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007235 MONDO:0000426 True branchiooculofacial syndrome autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0007235 MONDO:0015161 True branchiooculofacial syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007236 MONDO:0007029 True branchiootorenal syndrome 1 branchio-oto-renal syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0007239 MONDO:0017266 True epidermolytic ichthyosis keratinopathic ichthyosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007240 MONDO:0019490 True progressive familial heart block, type 1A progressive familial heart block UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0007243 MONDO:0004949 True Burkitt lymphoma neoplasm of mature B-cells UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0007243 MONDO:0017343 True Burkitt lymphoma Epstein-Barr virus-associated malignant lymphoproliferative disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007243 MONDO:0017595 True Burkitt lymphoma aggressive B-cell non-Hodgkin lymphoma UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007244 MONDO:0002614 True Caffey disease bone inflammation disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0007244 MONDO:0019702 True Caffey disease neonatal osteosclerotic dysplasia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007245 MONDO:0019289 True cafe au lait spots, multiple hyperpigmentation of the skin UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007248 MONDO:0017672 True hereditary painful callosities focal palmoplantar keratoderma UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007251 MONDO:0005516 True campomelic dysplasia osteochondrodysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0007251 MONDO:0019698 True campomelic dysplasia bent bone dysplasia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007252 MONDO:0015161 True Gordon syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007252 MONDO:0019942 True Gordon syndrome distal arthrogryposis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0007254 MONDO:0003274 True breast cancer thoracic cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0007254 MONDO:0021100 True breast cancer breast neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007256 MONDO:0004970 True hepatocellular carcinoma adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0007256 MONDO:0018531 True hepatocellular carcinoma carcinoma of liver and intrahepatic biliary tract UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007256 MONDO:0018531 True hepatocellular carcinoma carcinoma of liver and intrahepatic biliary tract UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007257 MONDO:0015279 True candidiasis, familial, 1 chronic mucocutaneous candidiasis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0007265 MONDO:0015280 True cardiofaciocutaneous syndrome 1 cardiofaciocutaneous syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0007266 MONDO:0024573 True hypertrophic cardiomyopathy 2 familial hypertrophic cardiomyopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0007267 MONDO:0024573 True hypertrophic cardiomyopathy 3 familial hypertrophic cardiomyopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0007268 MONDO:0024573 True hypertrophic cardiomyopathy 4 familial hypertrophic cardiomyopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0007269 MONDO:0016333 True dilated cardiomyopathy 1A familial dilated cardiomyopathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0007259 MONDO:0015159 True craniofaciofrontodigital syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007265 MONDO:0015280 True cardiofaciocutaneous syndrome 1 cardiofaciocutaneous syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0007266 MONDO:0024573 True hypertrophic cardiomyopathy 2 familial hypertrophic cardiomyopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0007267 MONDO:0024573 True hypertrophic cardiomyopathy 3 familial hypertrophic cardiomyopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0007268 MONDO:0024573 True hypertrophic cardiomyopathy 4 familial hypertrophic cardiomyopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0007269 MONDO:0016333 True dilated cardiomyopathy 1A familial dilated cardiomyopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0007270 MONDO:0016340 True cardiomyopathy, familial restrictive, 1 familial restrictive cardiomyopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0007272 MONDO:0017758 True hereditary hypercarotenemia and vitamin A deficiency disorder of vitamin and non-protein cofactor absorption and transport UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007273 MONDO:0000448 True paragangliomas 4 paraganglioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0007276 MONDO:0002254 True cat-eye syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007281 MONDO:0005129 True cataract 4 multiple types cataract UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0007282 MONDO:0005129 True cataract 29 cataract UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0007285 MONDO:0005129 True cataract 1 multiple types cataract UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0007293 MONDO:0017570 True leukocyte adhesion deficiency 1 leukocyte adhesion deficiency UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0007294 MONDO:0018943 True central core myopathy myofibrillar myopathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS -MONDO:0007306 MONDO:0001029 True Klippel-Feil syndrome 1, autosomal dominant Klippel-Feil syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0007315 MONDO:0015356 True cherubism hereditary neoplastic syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007318 MONDO:0002254 True Alagille syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0007329 MONDO:0005155 True cirrhosis, familial cirrhosis of liver UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007335 MONDO:0000358 True orofacial cleft 1 orofacial cleft UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0007340 MONDO:0002254 True cleidocranial dysplasia 1 syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0007275 MONDO:0003615 True carpal tunnel syndrome nerve compression syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0007277 MONDO:0015161 True cataract-aberrant oral frenula-growth delay syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007281 MONDO:0005129 True cataract 4 multiple types cataract UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0007282 MONDO:0005129 True cataract 29 cataract UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0007285 MONDO:0005129 True cataract 1 multiple types cataract UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0007293 MONDO:0017570 True leukocyte adhesion deficiency 1 leukocyte adhesion deficiency UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0007295 MONDO:0000414 True childhood epilepsy with centrotemporal spikes childhood electroclinical syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0007295 MONDO:0017704 True childhood epilepsy with centrotemporal spikes familial partial epilepsy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007296 MONDO:0019793 True spinocerebellar ataxia type 31 autosomal dominant cerebellar ataxia type III UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007297 MONDO:0005620 True ADan amyloidosis cerebral amyloid angiopathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0007297 MONDO:0018591 True ADan amyloidosis ITM2B amyloidosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007298 MONDO:0019792 True spinocerebellar ataxia type 29 autosomal dominant cerebellar ataxia type I UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007301 MONDO:0002254 True cerebrocostomandibular syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0007306 MONDO:0001029 True Klippel-Feil syndrome 1, autosomal dominant Klippel-Feil syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0007307 MONDO:0019011 True Charcot-Marie-Tooth disease type 1B Charcot-Marie-Tooth disease type 1 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0007308 MONDO:0018993 True Charcot-Marie-Tooth disease type 2A1 Charcot-Marie-Tooth disease type 2 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0007309 MONDO:0016950 True Charcot-Marie-Tooth disease type 1A partial duplication of the short arm of chromosome 17 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007309 MONDO:0019011 True Charcot-Marie-Tooth disease type 1A Charcot-Marie-Tooth disease type 1 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0007311 MONDO:0019011 True Charcot-Marie-Tooth disease type 1E Charcot-Marie-Tooth disease type 1 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0007315 MONDO:0000426 True cherubism autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0007315 MONDO:0015161 True cherubism multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007315 MONDO:0019751 True cherubism autoinflammatory syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007316 MONDO:0018075 True Chiari malformation type I neural tube defect UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007318 MONDO:0015161 True Alagille syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007321 MONDO:0000426 True autosomal dominant chondrodysplasia punctata autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0007321 MONDO:0002254 True autosomal dominant chondrodysplasia punctata syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0007327 MONDO:0018637 True chylomicronemia, familial, due to circulating inhibitor of lipoprotein lipase familial chylomicronemia syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0007330 MONDO:0018234 True congenital pseudoarthrosis of clavicle dysostosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007334 MONDO:0017435 True autosomal dominant popliteal pterygium syndrome popliteal pterygium syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007335 MONDO:0000358 True orofacial cleft 1 orofacial cleft UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0007336 MONDO:0016064 True isolated cleft palate cleft palate UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0007337 MONDO:0015161 True cleft palate-lateral synechia syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007338 MONDO:0016064 True cleft soft palate cleft palate UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0007339 MONDO:0000426 True blepharocheilodontic syndrome autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0007339 MONDO:0015161 True blepharocheilodontic syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007339 MONDO:0019287 True blepharocheilodontic syndrome ectodermal dysplasia syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS +MONDO:0007339 MONDO:0020161 True blepharocheilodontic syndrome congenital ectropion UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007340 MONDO:0005516 True cleidocranial dysplasia 1 osteochondrodysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0007340 MONDO:0018230 True cleidocranial dysplasia 1 skeletal dysplasia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007341 MONDO:0018230 True cleidorhizomelic syndrome skeletal dysplasia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007343 MONDO:0019284 True isolated congenital digital clubbing inherited isolated nail anomaly UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0007345 MONDO:0021147 True aorta coarctation disorder of development or morphogenesis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007349 MONDO:0018768 True familial cold autoinflammatory syndrome 1 familial cold autoinflammatory syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0007352 MONDO:0002254 True renal coloboma syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0007356 MONDO:0018630 True Lynch syndrome 1 hereditary nonpolyposis colon cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0007362 MONDO:0015993 True cone-rod dystrophy 2 cone-rod dystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0007363 MONDO:0008779 True congenital contractural arachnodactyly arthrogryposis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007363 MONDO:0019942 True congenital contractural arachnodactyly distal arthrogryposis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0007349 MONDO:0018768 True familial cold autoinflammatory syndrome 1 familial cold autoinflammatory syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0007352 MONDO:0000426 True renal coloboma syndrome autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0007352 MONDO:0002254 True renal coloboma syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0007354 MONDO:0001834 True coloboma of optic nerve visual pathway disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0007355 MONDO:0003847 True uveal coloboma-cleft lip and palate-intellectual disability hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0007355 MONDO:0015159 True uveal coloboma-cleft lip and palate-intellectual disability multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007356 MONDO:0000426 True Lynch syndrome 1 autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0007356 MONDO:0018630 True Lynch syndrome 1 hereditary nonpolyposis colon cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0007362 MONDO:0015993 True cone-rod dystrophy 2 cone-rod dystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0007363 MONDO:0017310 True congenital contractural arachnodactyly Marfan and Marfan-related disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007363 MONDO:0019942 True congenital contractural arachnodactyly distal arthrogryposis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED MONDO:0007365 MONDO:0016027 True seizures, benign familial neonatal, 1 benign neonatal seizures UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0007366 MONDO:0016027 True seizures, benign familial neonatal, 2 benign neonatal seizures UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0007367 MONDO:0000032 True febrile seizures, familial, 1 febrile seizures, familial UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0007367 MONDO:0000032 True febrile seizures, familial, 1 febrile seizures, familial UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0007368 MONDO:0017762 True familial benign copper deficiency disorder of copper metabolism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007369 MONDO:0002520 True hereditary coproporphyria hepatic porphyria UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0007372 MONDO:0000733 True cornea plana 1, autosomal dominant cornea plana UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0007378 MONDO:0020364 True posterior polymorphous corneal dystrophy 1 posterior polymorphous corneal dystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0007387 MONDO:0016033 True Cornelia de Lange syndrome 1 Cornelia de Lange syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0007389 MONDO:0000359 True spondylocostal dysostosis 5 spondylocostal dysostosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0007397 MONDO:0015465 True craniometaphyseal dysplasia, autosomal dominant craniometaphyseal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0007404 MONDO:0002254 True Cri-du-chat syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0007374 MONDO:0003847 True Schnyder corneal dystrophy hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0007374 MONDO:0020213 True Schnyder corneal dystrophy stromal corneal dystrophy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0007375 MONDO:0000763 True epithelial basement membrane dystrophy epithelial and subepithelial corneal dystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0007375 MONDO:0020212 True epithelial basement membrane dystrophy superficial corneal dystrophy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007376 MONDO:0020213 True fleck corneal dystrophy stromal corneal dystrophy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0007377 MONDO:0000764 True granular corneal dystrophy type I epithelial-stromal TGFBI dystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0007377 MONDO:0020213 True granular corneal dystrophy type I stromal corneal dystrophy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0007378 MONDO:0020364 True posterior polymorphous corneal dystrophy 1 posterior polymorphous corneal dystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0007379 MONDO:0000763 True Meesmann corneal dystrophy epithelial and subepithelial corneal dystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0007379 MONDO:0020212 True Meesmann corneal dystrophy superficial corneal dystrophy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007381 MONDO:0003847 True epithelial recurrent erosion dystrophy hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0007381 MONDO:0020212 True epithelial recurrent erosion dystrophy superficial corneal dystrophy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007382 MONDO:0015159 True Ramos-Arroyo syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007383 MONDO:0019287 True Stern-Lubinsky-Durrie syndrome ectodermal dysplasia syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0007384 MONDO:0020127 True congenital trigeminal anesthesia hereditary peripheral neuropathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007387 MONDO:0016033 True Cornelia de Lange syndrome 1 Cornelia de Lange syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0007388 MONDO:0015929 True congenitally short costocoracoid ligament thoracic malformation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007389 MONDO:0000359 True spondylocostal dysostosis 5 spondylocostal dysostosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0007390 MONDO:0003847 True coumarin resistance hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0007395 MONDO:0003847 True craniofacial-deafness-hand syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0007395 MONDO:0015161 True craniofacial-deafness-hand syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007397 MONDO:0015465 True craniometaphyseal dysplasia, autosomal dominant craniometaphyseal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0007401 MONDO:0015704 True craniosynostosis-Dandy-Walker malformation-hydrocephalus syndrome familial scaphocephaly syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007401 MONDO:0020022 True craniosynostosis-Dandy-Walker malformation-hydrocephalus syndrome central nervous system malformation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007403 MONDO:0024237 True inherited Creutzfeldt-Jakob disease inherited neurodegenerative disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007404 MONDO:0002254 True Cri-du-chat syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0007404 MONDO:0016887 True Cri-du-chat syndrome partial deletion of the short arm of chromosome 5 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007405 MONDO:0015338 True Crouzon syndrome syndromic craniosynostosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007407 MONDO:0015491 True Cryoglobulinemic vasculitis immune complex mediated vasculitis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007409 MONDO:0015161 True cryptomicrotia-brachydactyly-excess fingertip arch syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007410 MONDO:0020153 True isolated cryptophthalmia cryptophthalmia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0007411 MONDO:0019571 True cutis laxa, autosomal dominant 1 autosomal dominant cutis laxa UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0007412 MONDO:0000426 True Beare-Stevenson cutis gyrata syndrome autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0007412 MONDO:0015161 True Beare-Stevenson cutis gyrata syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007412 MONDO:0015338 True Beare-Stevenson cutis gyrata syndrome syndromic craniosynostosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007413 MONDO:0015161 True Cyprus facial-neuromusculoskeletal syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007413 MONDO:0020120 True Cyprus facial-neuromusculoskeletal syndrome skeletal muscle disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007414 MONDO:0002013 True Gorham-Stout disease lymphangioma UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007415 MONDO:0020811 True mitochondrial complex III deficiency nuclear type 1 mitochondrial complex III deficiency, nuclear type UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0007416 MONDO:0001085 True Balkan nephropathy interstitial nephritis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0007424 MONDO:0019587 True autosomal dominant nonsyndromic hearing loss 1 autosomal dominant nonsyndromic hearing loss UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0007446 MONDO:0002406 True dermatosis papulosa nigra dermatitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0007450 MONDO:0004782 True neurohypophyseal diabetes insipidus diabetes insipidus UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0007452 MONDO:0018911 True maturity-onset diabetes of the young type 1 maturity-onset diabetes of the young UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS -MONDO:0007453 MONDO:0018911 True maturity-onset diabetes of the young type 2 maturity-onset diabetes of the young UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS -MONDO:0007473 MONDO:0002254 True Duane retraction syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0007478 MONDO:0016516 True autosomal dominant Kenny-Caffey syndrome Kenny-Caffey syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0007416 MONDO:0001085 True Balkan nephropathy interstitial nephritis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0007417 MONDO:0019268 True Darier disease epidermal disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007420 MONDO:0002254 True autosomal dominant deafness - onychodystrophy syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0007420 MONDO:0003847 True autosomal dominant deafness - onychodystrophy syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0007422 MONDO:0003847 True keratoderma hereditarium mutilans hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0007424 MONDO:0019587 True autosomal dominant nonsyndromic hearing loss 1 autosomal dominant nonsyndromic hearing loss UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0007428 MONDO:0015161 True deafness-craniofacial syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007434 MONDO:0003847 True primary failure of tooth eruption hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0007435 MONDO:0015548 True dentatorubral-pallidoluysian atrophy Huntington disease-like syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007435 MONDO:0019794 True dentatorubral-pallidoluysian atrophy autosomal dominant cerebellar ataxia type IV UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007436 MONDO:0015613 True dentin dysplasia type I dentin dysplasia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007437 MONDO:0015613 True dentin dysplasia type II dentin dysplasia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007441 MONDO:0018849 True dentinogenesis imperfecta type 2 dentinogenesis imperfecta UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007442 MONDO:0018849 True dentinogenesis imperfecta type 3 dentinogenesis imperfecta UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007445 MONDO:0017666 True dermatopathia pigmentosa reticularis diffuse palmoplantar keratoderma UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007445 MONDO:0019287 True dermatopathia pigmentosa reticularis ectodermal dysplasia syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED +MONDO:0007445 MONDO:0019289 True dermatopathia pigmentosa reticularis hyperpigmentation of the skin UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007446 MONDO:0002406 True dermatosis papulosa nigra dermatitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0007448 MONDO:0006599 True familial dermatographia physical urticaria UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0007449 MONDO:0019287 True dermo-odonto dysplasia ectodermal dysplasia syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0007450 MONDO:0000426 True neurohypophyseal diabetes insipidus autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0007450 MONDO:0004782 True neurohypophyseal diabetes insipidus diabetes insipidus UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0007450 MONDO:0015790 True neurohypophyseal diabetes insipidus central diabetes insipidus UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0007451 MONDO:0016383 True diabetes insipidus, nephrogenic, autosomal nephrogenic diabetes insipidus UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0007452 MONDO:0018911 True maturity-onset diabetes of the young type 1 maturity-onset diabetes of the young UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED +MONDO:0007453 MONDO:0018911 True maturity-onset diabetes of the young type 2 maturity-onset diabetes of the young UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED +MONDO:0007461 MONDO:0015161 True short stature-valvular heart disease-characteristic facies syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007471 MONDO:0006949 True Doyne honeycomb retinal dystrophy retinal drusen UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0007472 MONDO:0006949 True basal laminar drusen retinal drusen UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0007477 MONDO:0002254 True 3-M syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0007477 MONDO:0006025 True 3-M syndrome autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0007477 MONDO:0015161 True 3-M syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007478 MONDO:0000426 True autosomal dominant Kenny-Caffey syndrome autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0007478 MONDO:0016516 True autosomal dominant Kenny-Caffey syndrome Kenny-Caffey syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0007481 MONDO:0005516 True Leri-Weill dyschondrosteosis osteochondrodysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0007481 MONDO:0018230 True Leri-Weill dyschondrosteosis skeletal dysplasia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007482 MONDO:0018230 True dyschondrosteosis-nephritis syndrome skeletal dysplasia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007483 MONDO:0000118 True dyschromatosis symmetrica hereditaria reticulate pigment disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0007485 MONDO:0015780 True dyskeratosis congenita, autosomal dominant 1 dyskeratosis congenita UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0007486 MONDO:0002254 True hereditary benign intraepithelial dyskeratosis syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007495 MONDO:0044807 True dystonia 5 inherited dystonia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0007510 MONDO:0019287 True Clouston syndrome ectodermal dysplasia syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0007523 MONDO:0020066 True Ehlers-Danlos syndrome, hypermobility type Ehlers-Danlos syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0007525 MONDO:0020066 True Ehlers-Danlos syndrome, arthrochalasis type Ehlers-Danlos syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0007534 MONDO:0015356 True Beckwith-Wiedemann syndrome hereditary neoplastic syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007536 MONDO:0004849 True congenital lobar emphysema pulmonary emphysema UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007538 MONDO:0019507 True amelogenesis imperfecta, type 3A amelogenesis imperfecta UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0007540 MONDO:0017169 True multiple endocrine neoplasia type 1 multiple endocrine neoplasia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0007542 MONDO:0002254 True Camurati-Engelmann disease syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0007550 MONDO:0017610 True epidermolysis bullosa simplex 1A, generalized severe epidermolysis bullosa simplex UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0007551 MONDO:0017610 True epidermolysis bullosa simplex 1C, localized epidermolysis bullosa simplex UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0007554 MONDO:0017610 True epidermolysis bullosa simplex 1B, generalized intermediate epidermolysis bullosa simplex UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0007555 MONDO:0017610 True pidermolysis bullosa simplex 5A, Ogna type epidermolysis bullosa simplex UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0007556 MONDO:0017610 True epidermolysis bullosa simplex 2F, with mottled pigmentation epidermolysis bullosa simplex UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0007483 MONDO:0019289 True dyschromatosis symmetrica hereditaria hyperpigmentation of the skin UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007485 MONDO:0015780 True dyskeratosis congenita, autosomal dominant 1 dyskeratosis congenita UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0007486 MONDO:0020212 True hereditary benign intraepithelial dyskeratosis superficial corneal dystrophy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007489 MONDO:0018230 True dysplasia epiphysealis hemimelica skeletal dysplasia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007490 MONDO:0018230 True carpotarsal osteochondromatosis skeletal dysplasia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007493 MONDO:0015990 True torsion dystonia 4 focal, segmental or multifocal dystonia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007495 MONDO:0016812 True dystonia 5 dopa-responsive dystonia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007495 MONDO:0044807 True dystonia 5 inherited dystonia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0007496 MONDO:0020065 True dystonia 12 combined dystonia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007507 MONDO:0019268 True absence of fingerprints-congenital milia syndrome epidermal disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007508 MONDO:0000426 True Rapp-Hodgkin syndrome autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0007508 MONDO:0019287 True Rapp-Hodgkin syndrome ectodermal dysplasia syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED +MONDO:0007510 MONDO:0017666 True Clouston syndrome diffuse palmoplantar keratoderma UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007510 MONDO:0019287 True Clouston syndrome ectodermal dysplasia syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0007511 MONDO:0019287 True ectodermal dysplasia, trichoodontoonychial type ectodermal dysplasia syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0007514 MONDO:0003847 True ectopia lentis 1, isolated, autosomal dominant hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0007514 MONDO:0015998 True ectopia lentis 1, isolated, autosomal dominant isolated ectopia lentis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0007519 MONDO:0043009 True Edinburgh malformation syndrome hereditary lethal multiple congenital anomalies/dysmorphic syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007520 MONDO:0010004 True ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 1 EEC syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED +MONDO:0007522 MONDO:0020066 True Ehlers-Danlos syndrome, classic type Ehlers-Danlos syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007523 MONDO:0020066 True Ehlers-Danlos syndrome, hypermobility type Ehlers-Danlos syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0007524 MONDO:0000426 True autosomal dominant Ehlers-Danlos syndrome, vascular type autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0007525 MONDO:0020066 True Ehlers-Danlos syndrome, arthrochalasis type Ehlers-Danlos syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0007526 MONDO:0015327 True Ehlers-Danlos syndrome, spondylodysplastic type developmental anomaly of metabolic origin UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007526 MONDO:0019052 True Ehlers-Danlos syndrome, spondylodysplastic type inborn errors of metabolism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0007526 MONDO:0020066 True Ehlers-Danlos syndrome, spondylodysplastic type Ehlers-Danlos syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0007527 MONDO:0020066 True Ehlers-Danlos syndrome, periodontitis type Ehlers-Danlos syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007534 MONDO:0015356 True Beckwith-Wiedemann syndrome hereditary neoplastic syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007534 MONDO:0019716 True Beckwith-Wiedemann syndrome overgrowth syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007537 MONDO:0003847 True lateral meningocele syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0007537 MONDO:0018075 True lateral meningocele syndrome neural tube defect UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0007538 MONDO:0019507 True amelogenesis imperfecta, type 3A amelogenesis imperfecta UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0007540 MONDO:0000426 True multiple endocrine neoplasia type 1 autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0007540 MONDO:0016365 True multiple endocrine neoplasia type 1 familial primary hyperparathyroidism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007540 MONDO:0017169 True multiple endocrine neoplasia type 1 multiple endocrine neoplasia UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0007540 MONDO:0021227 True multiple endocrine neoplasia type 1 adrenal gland neoplasm UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007542 MONDO:0018230 True Camurati-Engelmann disease skeletal dysplasia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007548 MONDO:0006543 True transient bullous dermolysis of the newborn epidermolysis bullosa dystrophica UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0007549 MONDO:0006543 True generalized dominant dystrophic epidermolysis bullosa epidermolysis bullosa dystrophica UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0007550 MONDO:0017610 True epidermolysis bullosa simplex 1A, generalized severe epidermolysis bullosa simplex UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0007551 MONDO:0017610 True epidermolysis bullosa simplex 1C, localized epidermolysis bullosa simplex UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0007552 MONDO:0006543 True pretibial dystrophic epidermolysis bullosa epidermolysis bullosa dystrophica UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0007554 MONDO:0017610 True epidermolysis bullosa simplex 1B, generalized intermediate epidermolysis bullosa simplex UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0007555 MONDO:0017610 True pidermolysis bullosa simplex 5A, Ogna type epidermolysis bullosa simplex UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0007556 MONDO:0017610 True epidermolysis bullosa simplex 2F, with mottled pigmentation epidermolysis bullosa simplex UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0007557 MONDO:0003847 True epidermolysis bullosa with congenital localized absence of skin and deformity of nails hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0007558 MONDO:0015650 True benign occipital epilepsy epilepsy syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007559 MONDO:0015643 True photoparoxysmal response 1 photosensitive epilepsy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0007561 MONDO:0016648 True multiple epiphyseal dysplasia type 1 multiple epiphyseal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0007564 MONDO:0003413 True pilomatrixoma hair follicle neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0007566 MONDO:0015356 True multiple self-healing squamous epithelioma hereditary neoplastic syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007560 MONDO:0017768 True reading seizures reflex epilepsy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007561 MONDO:0016648 True multiple epiphyseal dysplasia type 1 multiple epiphyseal dysplasia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0007562 MONDO:0016648 True multiple epiphyseal dysplasia, Beighton type multiple epiphyseal dysplasia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS +MONDO:0007562 MONDO:0022800 True multiple epiphyseal dysplasia, Beighton type type 2 collagenopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007564 MONDO:0003413 True pilomatrixoma hair follicle neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0007565 MONDO:0011512 True familial cylindromatosis Brooke-Spiegler syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0007568 MONDO:0019625 True aortic aneurysm, familial thoracic 4 familial thoracic aortic aneurysm and aortic dissection UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0007571 MONDO:0016028 True primary erythermalgia erythromelalgia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007572 MONDO:0001115 True primary familial polycythemia due to EPO receptor mutation familial polycythemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0007576 MONDO:0002516 True esophageal cancer digestive system cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0007572 MONDO:0001115 True primary familial polycythemia due to EPO receptor mutation familial polycythemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0007574 MONDO:0019270 True spinocerebellar ataxia type 34 erythrokeratoderma UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007574 MONDO:0019792 True spinocerebellar ataxia type 34 autosomal dominant cerebellar ataxia type I UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007576 MONDO:0002516 True esophageal cancer digestive system cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0007576 MONDO:0021355 True esophageal cancer neoplasm of esophagus UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007589 MONDO:0019516 True exudative vitreoretinopathy 1 exudative vitreoretinopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0007603 MONDO:0002254 True Felty syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0007606 MONDO:0003847 True fibrodysplasia ossificans progressiva hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0007585 MONDO:0005508 True exostoses, multiple, type 1 hereditary multiple osteochondromas UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0007586 MONDO:0005508 True exostoses, multiple, type 2 hereditary multiple osteochondromas UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0007587 MONDO:0015161 True external auditory canal atresia-vertical talus-hypertelorism syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007587 MONDO:0018234 True external auditory canal atresia-vertical talus-hypertelorism syndrome dysostosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007588 MONDO:0015159 True extrasystoles-short stature-hyperpigmentation-microcephaly syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007588 MONDO:0019289 True extrasystoles-short stature-hyperpigmentation-microcephaly syndrome hyperpigmentation of the skin UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007589 MONDO:0019516 True exudative vitreoretinopathy 1 exudative vitreoretinopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0007592 MONDO:0020127 True familial recurrent peripheral facial palsy hereditary peripheral neuropathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007603 MONDO:0002254 True Felty syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0007604 MONDO:0015161 True femoral-facial syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007604 MONDO:0018234 True femoral-facial syndrome dysostosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007604 MONDO:0019054 True femoral-facial syndrome congenital limb malformation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007606 MONDO:0003847 True fibrodysplasia ossificans progressiva hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0007606 MONDO:0019296 True fibrodysplasia ossificans progressiva subcutaneous tissue disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007608 MONDO:0005031 True desmoid tumor fibromatosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007608 MONDO:0006424 True desmoid tumor soft tissue neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007609 MONDO:0016070 True fibromatosis, gingival, 1 hereditary gingival fibromatosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0007617 MONDO:0015452 True Coffin-Siris syndrome 1 Coffin-Siris syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0007627 MONDO:0018363 True focal facial dermal dysplasia type I focal facial dermal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0007610 MONDO:0019280 True gingival fibromatosis-hypertrichosis syndrome hypertrichosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007610 MONDO:0019287 True gingival fibromatosis-hypertrichosis syndrome ectodermal dysplasia syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0007614 MONDO:0001584 True congenital fibrosis of extraocular muscles ocular motility disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0007614 MONDO:0016106 True congenital fibrosis of extraocular muscles progressive muscular dystrophy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007615 MONDO:0019054 True laurin-Sandrow syndrome congenital limb malformation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007617 MONDO:0000426 True Coffin-Siris syndrome 1 autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0007617 MONDO:0015452 True Coffin-Siris syndrome 1 Coffin-Siris syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0007619 MONDO:0000426 True isolated congenital adermatoglyphia autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0007620 MONDO:0018999 True fish eye disease LCAT deficiency UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007620 MONDO:0019052 True fish eye disease inborn errors of metabolism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007621 MONDO:0003847 True Floating-Harbor syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0007621 MONDO:0015159 True Floating-Harbor syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007624 MONDO:0019303 True Flynn-Aird syndrome premature aging syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007627 MONDO:0018363 True focal facial dermal dysplasia type I focal facial dermal dysplasia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0007628 MONDO:0044203 True foveal hypoplasia 1 foveal hypoplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0007631 MONDO:0002254 True chromosome 16p12.1 deletion syndrome, 520kb syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0007635 MONDO:0002254 True Frasier syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0007636 MONDO:0016643 True frontorhiny frontonasal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0007630 MONDO:0031166 True North Carolina macular dystrophy macular dystrophy, retinal UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0007631 MONDO:0003847 True chromosome 16p12.1 deletion syndrome, 520kb hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0007635 MONDO:0000426 True Frasier syndrome autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0007635 MONDO:0002254 True Frasier syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0007635 MONDO:0020040 True Frasier syndrome 46,XY disorder of sex development UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007636 MONDO:0016643 True frontorhiny frontonasal dysplasia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED MONDO:0007637 MONDO:0005321 True corneal dystrophy, Fuchs endothelial, 1 Fuchs' endothelial dystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0007640 MONDO:0019118 True Sorsby fundus dystrophy inherited retinal dystrophy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0007646 MONDO:0002254 True Gamstorp-Wohlfart syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0007648 MONDO:0005017 True hereditary diffuse gastric adenocarcinoma diffuse gastric adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0007648 MONDO:0018502 True hereditary diffuse gastric adenocarcinoma hereditary gastric cancer UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007650 MONDO:0004949 True MALT lymphoma neoplasm of mature B-cells UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0007650 MONDO:0017604 True MALT lymphoma marginal zone lymphoma UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0007652 MONDO:0004966 True gastric mucosal hypertrophy gastritis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0007656 MONDO:0005429 True Gerstmann-Straussler-Scheinker syndrome prion disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0007661 MONDO:0002254 True Tourette syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0007661 MONDO:0005395 True Tourette syndrome movement disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0007669 MONDO:0002254 True renal cysts and diabetes syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0007650 MONDO:0017604 True MALT lymphoma marginal zone lymphoma UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0007651 MONDO:0019289 True gastrocutaneous syndrome hyperpigmentation of the skin UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007652 MONDO:0004966 True gastric mucosal hypertrophy gastritis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0007655 MONDO:0001165 True fissured tongue tongue disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0007656 MONDO:0005429 True Gerstmann-Straussler-Scheinker syndrome prion disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0007661 MONDO:0002420 True Tourette syndrome tic disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0007669 MONDO:0018911 True renal cysts and diabetes syndrome maturity-onset diabetes of the young UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED +MONDO:0007670 MONDO:0019175 True hypotrichosis-lymphedema-telangiectasia syndrome (grouping) primary lymphedema UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007671 MONDO:0019722 True fibronectin glomerulopathy glomerular disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007672 MONDO:0003847 True glomuvenous malformation hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0007680 MONDO:0015161 True multinodular goiter-cystic kidney-polydactyly syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007681 MONDO:0000334 True goiter, multinodular 1, with or without Sertoli-Leydig cell tumors multinodular goiter UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0007686 MONDO:0000009 True gray platelet syndrome inherited bleeding disorder, platelet-type UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0007686 MONDO:0002254 True gray platelet syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0007701 MONDO:0019490 True progressive familial heart block type II progressive familial heart block UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0007710 MONDO:0002254 True facial hemiatrophy syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0007681 MONDO:0015356 True goiter, multinodular 1, with or without Sertoli-Leydig cell tumors hereditary neoplastic syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007686 MONDO:0000009 True gray platelet syndrome inherited bleeding disorder, platelet-type UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0007686 MONDO:0020117 True gray platelet syndrome alpha granule disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007688 MONDO:0015159 True Myhre syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007688 MONDO:0019695 True Myhre syndrome acromelic dysplasia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007690 MONDO:0005039 True aromatase excess syndrome reproductive system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0007693 MONDO:0019280 True hypertrichosis cubiti-short stature syndrome hypertrichosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007693 MONDO:0019287 True hypertrichosis cubiti-short stature syndrome ectodermal dysplasia syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0007696 MONDO:0019054 True Emery-Nelson syndrome congenital limb malformation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007698 MONDO:0000426 True hand-foot-genital syndrome autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0007698 MONDO:0002254 True hand-foot-genital syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0007698 MONDO:0015161 True hand-foot-genital syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007698 MONDO:0018234 True hand-foot-genital syndrome dysostosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0007698 MONDO:0019054 True hand-foot-genital syndrome congenital limb malformation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007700 MONDO:0017307 True hawkinsinuria disorder of tyrosine metabolism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007701 MONDO:0019490 True progressive familial heart block type II progressive familial heart block UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0007705 MONDO:0003664 True Heinz body anemia hemolytic anemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0007709 MONDO:0003847 True hematuria, benign familial hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0007710 MONDO:0002098 True facial hemiatrophy facial nerve disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0007711 MONDO:0015161 True Bencze syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007712 MONDO:0015161 True oculoauriculovertebral spectrum with radial defects multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007712 MONDO:0018234 True oculoauriculovertebral spectrum with radial defects dysostosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007716 MONDO:0005570 True alpha thalassemia-intellectual disability syndrome type 1 hematologic disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0007716 MONDO:0016894 True alpha thalassemia-intellectual disability syndrome type 1 partial deletion of the short arm of chromosome 16 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007718 MONDO:0003847 True hepatic adenomas, familial hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0007718 MONDO:0018902 True hepatic adenomas, familial hepatocellular adenoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0007719 MONDO:0005711 True diaphragmatic hernia 1 congenital diaphragmatic hernia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0007721 MONDO:0004298 True hiatus hernia stomach disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0007725 MONDO:0015531 True hereditary progressive mucinous histiocytosis non-Langerhans cell histiocytosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007727 MONDO:0005046 True autosomal dominant familial periodic fever immune system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0007727 MONDO:0017953 True autosomal dominant familial periodic fever hereditary periodic fever syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007728 MONDO:0024516 True acne inversa, familial, 1 familial acne inversa UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0007729 MONDO:0000158 True developmental dysplasia of the hip 1 developmental dysplasia of the hip UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0007733 MONDO:0016296 True holoprosencephaly 3 holoprosencephaly UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0007734 MONDO:0016296 True holoprosencephaly 4 holoprosencephaly UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0007741 MONDO:0005510 True congenital hydronephrosis hydronephrosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007745 MONDO:0002254 True Gilbert syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0007745 MONDO:0002408 True Gilbert syndrome hereditary hyperbilirubinemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0007732 MONDO:0000426 True Holt-Oram syndrome autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0007732 MONDO:0015161 True Holt-Oram syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007732 MONDO:0016432 True Holt-Oram syndrome heart-hand syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007733 MONDO:0016296 True holoprosencephaly 3 holoprosencephaly UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0007734 MONDO:0016296 True holoprosencephaly 4 holoprosencephaly UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0007737 MONDO:0001411 True humeroradial synostosis synostosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0007738 MONDO:0016761 True spondyloepiphyseal dysplasia with congenital joint dislocations spondyloepiphyseal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0007738 MONDO:0019052 True spondyloepiphyseal dysplasia with congenital joint dislocations inborn errors of metabolism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0007744 MONDO:0015903 True cholesterol-ester transfer protein deficiency hyperalphalipoproteinemia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007745 MONDO:0002408 True Gilbert syndrome hereditary hyperbilirubinemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0007747 MONDO:0006025 True isolated hyperchlorhidrosis autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0007747 MONDO:0021026 True isolated hyperchlorhidrosis hereditary epidermal appendage anomaly UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007750 MONDO:0005439 True hypercholesterolemia, familial, 1 familial hypercholesterolemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0007751 MONDO:0005439 True hypercholesterolemia, autosomal dominant, type B familial hypercholesterolemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0007768 MONDO:0015356 True hyperparathyroidism 2 with jaw tumors hereditary neoplastic syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007772 MONDO:0019162 True pseudohypoaldosteronism type 2A pseudohypoaldosteronism type 2 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0007753 MONDO:0001292 True Frey syndrome autonomic nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0007756 MONDO:0019268 True hyperkeratosis lenticularis perstans epidermal disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007757 MONDO:0019289 True hyperkeratosis-hyperpigmentation syndrome hyperpigmentation of the skin UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007758 MONDO:0017666 True epidermolytic palmoplantar keratoderma diffuse palmoplantar keratoderma UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007762 MONDO:0001336 True hyperlipoproteinemia type V familial hyperlipidemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0007763 MONDO:0005086 True nonpapillary renal cell carcinoma renal cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0007764 MONDO:0002185 True autosomal dominant osteosclerosis, Worth type hyperostosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0007764 MONDO:0018230 True autosomal dominant osteosclerosis, Worth type skeletal dysplasia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007768 MONDO:0015356 True hyperparathyroidism 2 with jaw tumors hereditary neoplastic syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007768 MONDO:0016365 True hyperparathyroidism 2 with jaw tumors familial primary hyperparathyroidism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007772 MONDO:0019162 True pseudohypoaldosteronism type 2A pseudohypoaldosteronism type 2 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0007783 MONDO:0800188 True malignant hyperthermia, susceptibility to, 1 malignant hyperthermia, susceptibility to UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0007790 MONDO:0015626 True Charcot-Marie-Tooth disease type 3 Charcot-Marie-Tooth disease UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0007791 MONDO:0018458 True familial hypocalciuric hypercalcemia 1 familial hypocalciuric hypercalcemia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0007792 MONDO:0018458 True familial hypocalciuric hypercalcemia 2 familial hypocalciuric hypercalcemia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0007793 MONDO:0005516 True hypochondroplasia osteochondrodysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0007784 MONDO:0004425 True selective pituitary resistance to thyroid hormone hyperthyroidism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0007785 MONDO:0003847 True hyperthyroxinemia, dystransthyretinemic hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0007785 MONDO:0005333 True hyperthyroxinemia, dystransthyretinemic hyperthyroxinemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0007787 MONDO:0016381 True Ambras type hypertrichosis universalis congenita hypertrichosis lanuginosa congenita UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0007790 MONDO:0015626 True Charcot-Marie-Tooth disease type 3 Charcot-Marie-Tooth disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0007791 MONDO:0018458 True familial hypocalciuric hypercalcemia 1 familial hypocalciuric hypercalcemia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0007792 MONDO:0018458 True familial hypocalciuric hypercalcemia 2 familial hypocalciuric hypercalcemia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0007793 MONDO:0005516 True hypochondroplasia osteochondrodysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0007793 MONDO:0019685 True hypochondroplasia FGFR3-related chondrodysplasia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007795 MONDO:0015161 True mullerian duct anomalies-limb anomalies syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007796 MONDO:0016390 True hypoparathyroidism, familial isolated 1 familial hypoparathyroidism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0007797 MONDO:0002254 True hypoparathyroidism-deafness-renal disease syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0007800 MONDO:0002254 True chromosome 18p deletion syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0007797 MONDO:0003847 True hypoparathyroidism-deafness-renal disease syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0007797 MONDO:0016892 True hypoparathyroidism-deafness-renal disease syndrome partial deletion of the short arm of chromosome 10 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007800 MONDO:0016880 True chromosome 18p deletion syndrome partial deletion of chromosome 18 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007802 MONDO:0005345 True hypospadias 3, autosomal hypospadias UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0007804 MONDO:0002254 True Pallister-Hall syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0007805 MONDO:0003037 True hypotrichosis 2 hypotrichosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0007818 MONDO:0018037 True hyper-IgE recurrent infection syndrome 1, autosomal dominant hyper-IgE syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0007827 MONDO:0021167 True inclusion body myositis myositis disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0007834 MONDO:0001933 True islet cell adenomatosis endocrine pancreas disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007838 MONDO:0002254 True Jacobsen syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0007803 MONDO:0000510 True multiple system atrophy synucleinopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0007804 MONDO:0002254 True Pallister-Hall syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0007804 MONDO:0018762 True Pallister-Hall syndrome non-acquired combined pituitary hormone deficiency UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007805 MONDO:0003037 True hypotrichosis 2 hypotrichosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0007808 MONDO:0859383 True ichthyosis hystrix of Curth-Macklin ichthyosis hystrix UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0007809 MONDO:0859383 True ichthyosis histrix, Lambert type ichthyosis hystrix UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0007810 MONDO:0000426 True autosomal dominant ichthyosis vulgaris autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0007813 MONDO:0017266 True superficial epidermolytic ichthyosis keratinopathic ichthyosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007818 MONDO:0000426 True hyper-IgE recurrent infection syndrome 1, autosomal dominant autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0007818 MONDO:0018037 True hyper-IgE recurrent infection syndrome 1, autosomal dominant hyper-IgE syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0007827 MONDO:0021167 True inclusion body myositis myositis disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0007828 MONDO:0003847 True indifference to pain, congenital, autosomal dominant hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0007829 MONDO:0100429 True cholestasis, intrahepatic, of pregnancy, 1 intrahepatic cholestasis of pregnancy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0007835 MONDO:0004565 True intussusception intestinal obstruction UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0007836 MONDO:0003847 True IVIC syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0007836 MONDO:0018234 True IVIC syndrome dysostosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0007836 MONDO:0019054 True IVIC syndrome congenital limb malformation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007837 MONDO:0015159 True Johnson neuroectodermal syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007837 MONDO:0019287 True Johnson neuroectodermal syndrome ectodermal dysplasia syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0007838 MONDO:0016910 True Jacobsen syndrome partial deletion of the long arm of chromosome 11 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007838 MONDO:0018795 True Jacobsen syndrome syndromic constitutional thrombocytopenia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007839 MONDO:0015161 True Aase-Smith syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007839 MONDO:0020022 True Aase-Smith syndrome central nervous system malformation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007843 MONDO:0016512 True Kabuki syndrome 1 Kabuki syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0007846 MONDO:0015159 True KBG syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007848 MONDO:0000426 True autosomal dominant keratitis autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0007848 MONDO:0003085 True autosomal dominant keratitis keratitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0007850 MONDO:0000426 True autosomal dominant keratitis-ichthyosis-hearing loss syndrome autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0007850 MONDO:0018781 True autosomal dominant keratitis-ichthyosis-hearing loss syndrome KID syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0007851 MONDO:0015486 True keratoconus 1 keratoconus UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0007862 MONDO:0018094 True Waardenburg syndrome type 3 Waardenburg syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0007863 MONDO:0002254 True Kleine-Levin syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0007864 MONDO:0002254 True angioosteohypertrophic syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0007867 MONDO:0019284 True nonsyndromic congenital nail disorder 2 inherited isolated nail anomaly UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0007868 MONDO:0021022 True hyperekplexia 1 hereditary hyperekplexia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0007874 MONDO:0017951 True trichorhinophalangeal syndrome type II trichorhinophalangeal syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0007878 MONDO:0004382 True congenital laryngomalacia laryngeal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0007879 MONDO:0004382 True larynx atresia laryngeal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007879 MONDO:0024623 True larynx atresia otorhinolaryngologic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007880 MONDO:0004382 True congenital laryngeal web laryngeal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007852 MONDO:0017666 True palmoplantar keratoderma-deafness syndrome diffuse palmoplantar keratoderma UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007853 MONDO:0017666 True palmoplantar keratoderma-hereditary motor and sensory neuropathy syndrome diffuse palmoplantar keratoderma UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007854 MONDO:0019268 True keratolytic winter erythema epidermal disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007856 MONDO:0002254 True palmoplantar keratoderma-esophageal carcinoma syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0007856 MONDO:0017672 True palmoplantar keratoderma-esophageal carcinoma syndrome focal palmoplantar keratoderma UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007857 MONDO:0017666 True keratosis palmaris et plantaris-clinodactyly syndrome diffuse palmoplantar keratoderma UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007860 MONDO:0017672 True focal palmoplantar and gingival keratoderma focal palmoplantar keratoderma UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007862 MONDO:0018094 True Waardenburg syndrome type 3 Waardenburg syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0007863 MONDO:0004617 True Kleine-Levin syndrome recurrent hypersomnia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0007864 MONDO:0002254 True angioosteohypertrophic syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0007864 MONDO:0019716 True angioosteohypertrophic syndrome overgrowth syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007864 MONDO:0019755 True angioosteohypertrophic syndrome developmental defect during embryogenesis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007866 MONDO:0017666 True Bart-Pumphrey syndrome diffuse palmoplantar keratoderma UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007867 MONDO:0019284 True nonsyndromic congenital nail disorder 2 inherited isolated nail anomaly UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0007868 MONDO:0021022 True hyperekplexia 1 hereditary hyperekplexia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0007871 MONDO:0018751 True familial congenital nasolacrimal duct obstruction hereditary otorhinolaryngologic disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007872 MONDO:0000426 True LADD syndrome autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0007872 MONDO:0015161 True LADD syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007874 MONDO:0000426 True trichorhinophalangeal syndrome type II autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0007874 MONDO:0015159 True trichorhinophalangeal syndrome type II multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007874 MONDO:0016907 True trichorhinophalangeal syndrome type II partial deletion of the long arm of chromosome 8 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007874 MONDO:0017951 True trichorhinophalangeal syndrome type II trichorhinophalangeal syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0007875 MONDO:0000426 True Larsen syndrome autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0007875 MONDO:0019690 True Larsen syndrome filamin-related bone disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007875 MONDO:0019755 True Larsen syndrome developmental defect during embryogenesis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007878 MONDO:0004382 True congenital laryngomalacia laryngeal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0007881 MONDO:0005486 True tooth agenesis, selective, 4 tooth agenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0007885 MONDO:0018381 True Legg-Calve-Perthes disease osteochondrosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0007885 MONDO:0022800 True Legg-Calve-Perthes disease type 2 collagenopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007886 MONDO:0001572 True uterine corpus leiomyoma leiomyoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0007886 MONDO:0021525 True uterine corpus leiomyoma benign neoplasm of corpus uteri UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007888 MONDO:0015356 True hereditary leiomyomatosis and renal cell cancer hereditary neoplastic syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007893 MONDO:0002254 True Noonan syndrome with multiple lentigines syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0007896 MONDO:0018874 True acute monocytic leukemia acute myeloid leukemia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS -MONDO:0007899 MONDO:0002406 True lichen sclerosus et atrophicus dermatitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007900 MONDO:0019284 True nonsyndromic congenital nail disorder 3 inherited isolated nail anomaly UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0007906 MONDO:0020088 True familial partial lipodystrophy, Dunnigan type familial partial lipodystrophy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0007908 MONDO:0006574 True multiple symmetric lipomatosis lipomatosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0007915 MONDO:0004670 True systemic lupus erythematosus lupus erythematosus UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0007919 MONDO:0019313 True lymphatic malformation 1 lymphatic malformation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0007920 MONDO:0019313 True lymphatic malformation 5 lymphatic malformation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0007921 MONDO:0002254 True yellow nail syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0007922 MONDO:0002254 True lymphedema-distichiasis syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0007924 MONDO:0017623 True Bannayan-Riley-Ruvalcaba syndrome PTEN hamartoma tumor syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0007925 MONDO:0018881 True myelodysplastic syndrome associated with isolated del(5q) myelodysplastic syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS +MONDO:0007888 MONDO:0015356 True hereditary leiomyomatosis and renal cell cancer hereditary neoplastic syndrome UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007891 MONDO:0019289 True familial generalized lentiginosis hyperpigmentation of the skin UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007892 MONDO:0002254 True Lenz-Majewski hyperostotic dwarfism syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0007892 MONDO:0015159 True Lenz-Majewski hyperostotic dwarfism multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007892 MONDO:0018230 True Lenz-Majewski hyperostotic dwarfism skeletal dysplasia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007893 MONDO:0000426 True Noonan syndrome with multiple lentigines autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0007893 MONDO:0002254 True Noonan syndrome with multiple lentigines syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0007893 MONDO:0015161 True Noonan syndrome with multiple lentigines multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007893 MONDO:0020297 True Noonan syndrome with multiple lentigines Noonan syndrome and Noonan-related syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007894 MONDO:0019054 True Leri pleonosteosis congenital limb malformation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007895 MONDO:0019694 True platyspondylic dysplasia, Torrance type spondylodysplastic dysplasia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007895 MONDO:0022800 True platyspondylic dysplasia, Torrance type type 2 collagenopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007896 MONDO:0004600 True acute monocytic leukemia monocytic leukemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0007896 MONDO:0018874 True acute monocytic leukemia acute myeloid leukemia UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS +MONDO:0007900 MONDO:0019284 True nonsyndromic congenital nail disorder 3 inherited isolated nail anomaly UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0007904 MONDO:0015161 True median nodule of the upper lip multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007906 MONDO:0020088 True familial partial lipodystrophy, Dunnigan type familial partial lipodystrophy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0007908 MONDO:0006574 True multiple symmetric lipomatosis lipomatosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0007908 MONDO:0019296 True multiple symmetric lipomatosis subcutaneous tissue disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007909 MONDO:0019296 True familial multiple lipomatosis subcutaneous tissue disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007915 MONDO:0004670 True systemic lupus erythematosus lupus erythematosus UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0007916 MONDO:0018178 True primary intestinal lymphangiectasia intestinal lymphangiectasia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007918 MONDO:0002254 True microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0007918 MONDO:0019118 True microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability inherited retinal dystrophy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0007919 MONDO:0019313 True lymphatic malformation 1 lymphatic malformation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0007920 MONDO:0019313 True lymphatic malformation 5 lymphatic malformation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0007921 MONDO:0002254 True yellow nail syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0007921 MONDO:0019175 True yellow nail syndrome primary lymphedema UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007922 MONDO:0002254 True lymphedema-distichiasis syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0007924 MONDO:0000426 True Bannayan-Riley-Ruvalcaba syndrome autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0007924 MONDO:0015159 True Bannayan-Riley-Ruvalcaba syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007924 MONDO:0015185 True Bannayan-Riley-Ruvalcaba syndrome intestinal polyposis syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007924 MONDO:0017623 True Bannayan-Riley-Ruvalcaba syndrome PTEN hamartoma tumor syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0007924 MONDO:0019716 True Bannayan-Riley-Ruvalcaba syndrome overgrowth syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007925 MONDO:0003847 True myelodysplastic syndrome associated with isolated del(5q) hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0007925 MONDO:0018881 True myelodysplastic syndrome associated with isolated del(5q) myelodysplastic syndrome UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS +MONDO:0007927 MONDO:0015496 True congenital macroglossia macroglossia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007930 MONDO:0009276 True Bernard-Soulier syndrome, type A2, autosomal dominant Bernard-Soulier syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED MONDO:0007931 MONDO:0000390 True vitelliform macular dystrophy 2 vitelliform macular dystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0007932 MONDO:0005150 True age related macular degeneration 2 age-related macular degeneration UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0007935 MONDO:0003005 True cystoid macular edema macular retinal edema UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0007938 MONDO:0010765 True 46,XY sex reversal 4 46,XY complete gonadal dysgenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0007932 MONDO:0005150 True age related macular degeneration 2 age-related macular degeneration UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0007935 MONDO:0003005 True cystoid macular edema macular retinal edema UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0007938 MONDO:0010765 True 46,XY sex reversal 4 46,XY complete gonadal dysgenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED MONDO:0007939 MONDO:0800188 True malignant hyperthermia, susceptibility to, 2 malignant hyperthermia, susceptibility to UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0007940 MONDO:0800188 True malignant hyperthermia, susceptibility to, 3 malignant hyperthermia, susceptibility to UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0007944 MONDO:0002457 True Treacher Collins syndrome 1 Treacher-Collins syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0007947 MONDO:0002254 True Marfan syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0007943 MONDO:0015161 True Nager acrofacial dysostosis multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007944 MONDO:0002457 True Treacher Collins syndrome 1 Treacher-Collins syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0007946 MONDO:0003569 True jaw-winking syndrome cranial nerve neuropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0007947 MONDO:0017310 True Marfan syndrome Marfan and Marfan-related disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007949 MONDO:0015161 True Marshall syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007949 MONDO:0019287 True Marshall syndrome ectodermal dysplasia syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED MONDO:0007950 MONDO:0002724 True mastocytosis mast cell neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0007959 MONDO:0002913 True medulloblastoma cerebellar neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0007950 MONDO:0004805 True mastocytosis leukocyte disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0007953 MONDO:0002232 True Binder syndrome nasal cavity disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0007953 MONDO:0015161 True Binder syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007956 MONDO:0016643 True Pai syndrome frontonasal dysplasia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0007958 MONDO:0015277 True familial medullary thyroid carcinoma medullary thyroid gland carcinoma UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0007959 MONDO:0002913 True medulloblastoma cerebellar neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0007959 MONDO:0005564 True medulloblastoma embryonal neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0007963 MONDO:0024462 True melanoma, cutaneous malignant, susceptibility to, 1 susceptibility to familial cutaneous melanoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0007964 MONDO:0000426 True melanoma, cutaneous malignant, susceptibility to, 2 autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0007964 MONDO:0024462 True melanoma, cutaneous malignant, susceptibility to, 2 susceptibility to familial cutaneous melanoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0007969 MONDO:0002254 True Melkersson-Rosenthal syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0007967 MONDO:0015356 True melanoma and neural system tumor syndrome hereditary neoplastic syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007969 MONDO:0002098 True Melkersson-Rosenthal syndrome facial nerve disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0007970 MONDO:0017198 True melorheostosis osteopetrosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0007971 MONDO:0018230 True delayed membranous cranial ossification skeletal dysplasia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007972 MONDO:0006744 True Meniere disease endolymphatic hydrops UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0007974 MONDO:0100172 True intellectual disability, autosomal dominant 1 intellectual disability, autosomal dominant UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0007977 MONDO:0018230 True mesomelic dysplasia, Kantaputra type skeletal dysplasia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007979 MONDO:0003847 True metachondromatosis hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0007979 MONDO:0005381 True metachondromatosis bone disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0007982 MONDO:0005516 True metaphyseal chondrodysplasia, Jansen type osteochondrodysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0007982 MONDO:0018230 True metaphyseal chondrodysplasia, Jansen type skeletal dysplasia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007983 MONDO:0005516 True Schmid metaphyseal chondrodysplasia osteochondrodysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0007983 MONDO:0018230 True Schmid metaphyseal chondrodysplasia skeletal dysplasia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007984 MONDO:0018230 True metaphyseal dysplasia-maxillary hypoplasia-brachydacty syndrome skeletal dysplasia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007986 MONDO:0018240 True metatropic dysplasia TRPV4-related bone disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007987 MONDO:0016763 True Kniest dysplasia spondylometaphyseal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0007999 MONDO:0016296 True holoprosencephaly 2 holoprosencephaly UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0007987 MONDO:0022800 True Kniest dysplasia type 2 collagenopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007988 MONDO:0000426 True autosomal dominant primary microcephaly autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0007988 MONDO:0002320 True autosomal dominant primary microcephaly congenital nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0007988 MONDO:0016056 True autosomal dominant primary microcephaly isolated congenital microcephaly UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0007989 MONDO:0011119 True congenital microcoria iridogoniodysgenesis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007990 MONDO:0005093 True multiple benign circumferential skin creases on limbs skin disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0007991 MONDO:0015159 True microcephaly-deafness-intellectual disability syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007999 MONDO:0016296 True holoprosencephaly 2 holoprosencephaly UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED MONDO:0008000 MONDO:0100246 True migraine with or without aura, susceptibility to, 1 migraine with or without aura, susceptibility to UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0008006 MONDO:0002254 True Mobius syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0008016 MONDO:0019942 True trismus-pseudocamptodactyly syndrome distal arthrogryposis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0008004 MONDO:0019817 True familial mitral valve prolapse congenital mitral valve insufficiency and/or stenosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008006 MONDO:0002098 True Mobius syndrome facial nerve disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0008007 MONDO:0002220 True tooth ankylosis tooth hard tissue disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0008007 MONDO:0002257 True tooth ankylosis ankylosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0008009 MONDO:0000426 True monilethrix autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0008013 MONDO:0016874 True chromosome 9p deletion syndrome partial deletion of chromosome 9 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008015 MONDO:0002467 True motion sickness inner ear disorder UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0008016 MONDO:0019942 True trismus-pseudocamptodactyly syndrome distal arthrogryposis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0008018 MONDO:0000426 True Muir-Torre syndrome autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0008019 MONDO:0003847 True mullerian aplasia and hyperandrogenism hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0008019 MONDO:0015830 True mullerian aplasia and hyperandrogenism partial bilateral aplasia of the mullerian ducts UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008021 MONDO:0016063 True Cowden syndrome 1 Cowden disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0008026 MONDO:0018190 True autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures autosomal dominant childhood-onset proximal spinal muscular atrophy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0008030 MONDO:0001347 True facioscapulohumeral muscular dystrophy 1 facioscapulohumeral muscular dystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0008031 MONDO:0001347 True facioscapulohumeral muscular dystrophy 2 facioscapulohumeral muscular dystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0008047 MONDO:0016227 True episodic ataxia type 1 hereditary episodic ataxia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0008048 MONDO:0002921 True autosomal dominant centronuclear myopathy congenital structural myopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0008048 MONDO:0018947 True autosomal dominant centronuclear myopathy centronuclear myopathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0008050 MONDO:0018949 True MYH7-related skeletal myopathy distal myopathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0008023 MONDO:0100309 True muscular atrophy-ataxia-retinitis pigmentosa-diabetes mellitus syndrome hereditary ataxia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008024 MONDO:0015355 True neuronopathy, distal hereditary motor, type 7A distal hereditary motor neuropathy type 7 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0008025 MONDO:0015352 True neuronopathy, distal hereditary motor, type 2A distal hereditary motor neuropathy type 2 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0008026 MONDO:0018190 True autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures autosomal dominant childhood-onset proximal spinal muscular atrophy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0008029 MONDO:0016106 True Bethlem myopathy progressive muscular dystrophy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008029 MONDO:0019950 True Bethlem myopathy congenital muscular dystrophy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0008030 MONDO:0001347 True facioscapulohumeral muscular dystrophy 1 facioscapulohumeral muscular dystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0008031 MONDO:0001347 True facioscapulohumeral muscular dystrophy 2 facioscapulohumeral muscular dystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0008039 MONDO:0020010 True tropical spastic paraparesis infectious disorder of the nervous system UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008040 MONDO:0020076 True transient myeloproliferative syndrome myeloproliferative neoplasm UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0008043 MONDO:0100309 True myoclonus-cerebellar ataxia-deafness syndrome hereditary ataxia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008044 MONDO:0000903 True myoclonic dystonia 11 myoclonus-dystonia syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0008045 MONDO:0001516 True spinal muscular atrophy-progressive myoclonic epilepsy syndrome spinal muscular atrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0008045 MONDO:0024257 True spinal muscular atrophy-progressive myoclonic epilepsy syndrome hereditary motor neuron disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008046 MONDO:0019052 True autosomal dominant myoglobinuria inborn errors of metabolism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008047 MONDO:0016227 True episodic ataxia type 1 hereditary episodic ataxia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0008048 MONDO:0000426 True autosomal dominant centronuclear myopathy autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0008048 MONDO:0002921 True autosomal dominant centronuclear myopathy congenital structural myopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0008048 MONDO:0018947 True autosomal dominant centronuclear myopathy centronuclear myopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0008049 MONDO:0018949 True myopathy, distal, infantile-onset distal myopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED +MONDO:0008050 MONDO:0016195 True MYH7-related skeletal myopathy qualitative or quantitative defects of beta-myosin heavy chain (MYH7) UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008050 MONDO:0018949 True MYH7-related skeletal myopathy distal myopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0008051 MONDO:0019952 True tubular aggregate myopathy congenital myopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS MONDO:0008053 MONDO:0001384 True myopia 2, autosomal dominant myopia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0008054 MONDO:0016367 True juvenile dermatomyositis dermatomyositis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0008056 MONDO:0016107 True myotonic dystrophy type 1 myotonic dystrophy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0008060 MONDO:0019284 True nonsyndromic congenital nail disorder 1 inherited isolated nail anomaly UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0008061 MONDO:0002254 True nail-patella syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0008054 MONDO:0016367 True juvenile dermatomyositis dermatomyositis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0008054 MONDO:0018010 True juvenile dermatomyositis juvenile idiopathic inflammatory myopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008055 MONDO:0003847 True myotonia congenita, autosomal dominant hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0008055 MONDO:0009710 True myotonia congenita, autosomal dominant Thomsen and Becker disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0008056 MONDO:0016107 True myotonic dystrophy type 1 myotonic dystrophy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0008058 MONDO:0019952 True cylindrical spirals myopathy congenital myopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED +MONDO:0008059 MONDO:0017666 True Naegeli-Franceschetti-Jadassohn syndrome diffuse palmoplantar keratoderma UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008059 MONDO:0019287 True Naegeli-Franceschetti-Jadassohn syndrome ectodermal dysplasia syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED +MONDO:0008059 MONDO:0019289 True Naegeli-Franceschetti-Jadassohn syndrome hyperpigmentation of the skin UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008060 MONDO:0019284 True nonsyndromic congenital nail disorder 1 inherited isolated nail anomaly UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0008061 MONDO:0000426 True nail-patella syndrome autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0008061 MONDO:0002254 True nail-patella syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0008061 MONDO:0018234 True nail-patella syndrome dysostosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0008073 MONDO:0000608 True familial juvenile hyperuricemic nephropathy type 1 familial juvenile hyperuricemic nephropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0008073 MONDO:0008264 True familial juvenile hyperuricemic nephropathy type 1 autosomal dominant medullary cystic kidney disease with or without hyperuricemia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008075 MONDO:0002546 True schwannomatosis schwannoma UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0008082 MONDO:0019003 True multiple endocrine neoplasia type 2B multiple endocrine neoplasia type 2 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008094 MONDO:0021658 True familial multiple nevi flammei vascular ectasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008095 MONDO:0021658 True nevus anemicus vascular ectasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008097 MONDO:0006499 True linear nevus sebaceous syndrome hamartoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008099 MONDO:0016293 True congenital stationary night blindness autosomal dominant 2 congenital stationary night blindness UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0008075 MONDO:0019289 True schwannomatosis hyperpigmentation of the skin UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008075 MONDO:0019755 True schwannomatosis developmental defect during embryogenesis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008076 MONDO:0006683 True amyotrophic neuralgia brachial plexus neuropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0008082 MONDO:0000426 True multiple endocrine neoplasia type 2B autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0008082 MONDO:0019003 True multiple endocrine neoplasia type 2B multiple endocrine neoplasia type 2 UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008086 MONDO:0018213 True neuropathy, hereditary sensory and autonomic, type 1A hereditary sensory and autonomic neuropathy type 1 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0008087 MONDO:0020127 True hereditary neuropathy with liability to pressure palsies hereditary peripheral neuropathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008087 MONDO:0022754 True hereditary neuropathy with liability to pressure palsies chromosome 17p deletion UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008090 MONDO:0015134 True cyclic hematopoiesis constitutional neutropenia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008092 MONDO:0003847 True hereditary neutrophilia hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0008092 MONDO:0004805 True hereditary neutrophilia leukocyte disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0008094 MONDO:0016231 True familial multiple nevi flammei capillary malformation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008094 MONDO:0019293 True familial multiple nevi flammei skin vascular disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0008097 MONDO:0019755 True linear nevus sebaceous syndrome developmental defect during embryogenesis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008098 MONDO:0018230 True mesomelic dwarfism, Nievergelt type skeletal dysplasia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008099 MONDO:0016293 True congenital stationary night blindness autosomal dominant 2 congenital stationary night blindness UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED MONDO:0008102 MONDO:0012061 True sick sinus syndrome 2, autosomal dominant familial sick sinus syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0008104 MONDO:0018997 True Noonan syndrome 1 Noonan syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0008106 MONDO:0005712 True nystagmus 2, congenital, autosomal dominant congenital nystagmus UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0008109 MONDO:0018746 True ocular cicatricial pemphigoid mucous membrane pemphigoid UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008114 MONDO:0005618 True obsessive-compulsive disorder anxiety disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0008115 MONDO:0015267 True Feingold syndrome type 1 Feingold syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0008123 MONDO:0017136 True autosomal dominant omodysplasia omodysplasia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0008125 MONDO:0019284 True nonsyndromic congenital nail disorder 5 inherited isolated nail anomaly UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0008104 MONDO:0018997 True Noonan syndrome 1 Noonan syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0008106 MONDO:0005712 True nystagmus 2, congenital, autosomal dominant congenital nystagmus UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0008111 MONDO:0018230 True oculodentodigital dysplasia skeletal dysplasia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008111 MONDO:0019287 True oculodentodigital dysplasia ectodermal dysplasia syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS +MONDO:0008113 MONDO:0015161 True Schilbach-Rott syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008114 MONDO:0005618 True obsessive-compulsive disorder anxiety disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0008115 MONDO:0015267 True Feingold syndrome type 1 Feingold syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0008116 MONDO:0016106 True oculopharyngeal muscular dystrophy progressive muscular dystrophy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008119 MONDO:0015548 True spinocerebellar ataxia type 1 Huntington disease-like syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008119 MONDO:0019792 True spinocerebellar ataxia type 1 autosomal dominant cerebellar ataxia type I UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008123 MONDO:0000426 True autosomal dominant omodysplasia autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0008123 MONDO:0017136 True autosomal dominant omodysplasia omodysplasia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0008125 MONDO:0019284 True nonsyndromic congenital nail disorder 5 inherited isolated nail anomaly UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0008130 MONDO:0015159 True ophthalmoplegia-intellectual disability-lingua scrotalis syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008132 MONDO:0020478 True optic atrophy with demyelinating disease of CNS Leber plus disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0008133 MONDO:0016387 True optic atrophy 3 mitochondrial oxidative phosphorylation disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008133 MONDO:0020250 True optic atrophy 3 autosomal dominant optic atrophy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008134 MONDO:0016387 True autosomal dominant optic atrophy, classic form mitochondrial oxidative phosphorylation disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008134 MONDO:0020250 True autosomal dominant optic atrophy, classic form autosomal dominant optic atrophy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008135 MONDO:0043878 True optic atrophy 13 with retinal and foveal abnormalities hereditary optic atrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0008137 MONDO:0015375 True orofaciodigital syndrome X orofaciodigital syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0008145 MONDO:0019060 True Ollier disease bone neoplasm UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008137 MONDO:0015375 True orofaciodigital syndrome X orofaciodigital syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0008139 MONDO:0019054 True OSLAM syndrome congenital limb malformation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008139 MONDO:0019060 True OSLAM syndrome bone neoplasm UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008142 MONDO:0018381 True Thiemann disease, familial form osteochondrosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008142 MONDO:0018383 True Thiemann disease, familial form osteonecrosis of genetic origin UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008145 MONDO:0018230 True Ollier disease skeletal dysplasia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008145 MONDO:0019060 True Ollier disease bone neoplasm UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008150 MONDO:0002081 True osteoglophonic dwarfism musculoskeletal system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0008150 MONDO:0003847 True osteoglophonic dwarfism hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0008152 MONDO:0019707 True multicentric carpo-tarsal osteolysis with or without nephropathy primary osteolysis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008153 MONDO:0021154 True progressive osseous heteroplasia dermis disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008155 MONDO:0017198 True osteomesopyknosis osteopetrosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008156 MONDO:0020645 True autosomal dominant osteopetrosis 2 autosomal dominant osteopetrosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0008157 MONDO:0002254 True Buschke-Ollendorff syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0008161 MONDO:0016910 True otodental syndrome partial deletion of the long arm of chromosome 11 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008164 MONDO:0005349 True otosclerosis 1 otosclerosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0008167 MONDO:0002378 True dermoid cyst of ovary dermoid cyst UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0008165 MONDO:0020102 True southeast Asian ovalocytosis hereditary stomatocytosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008167 MONDO:0002378 True dermoid cyst of ovary dermoid cyst UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0008167 MONDO:0003281 True dermoid cyst of ovary ovarian cystic teratoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0008168 MONDO:0000646 True ovarian fibroma ovarian benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008168 MONDO:0005167 True ovarian fibroma fibroma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008170 MONDO:0001416 True ovarian cancer female reproductive organ cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0008170 MONDO:0001416 True ovarian cancer female reproductive organ cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0008170 MONDO:0021068 True ovarian cancer ovarian neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008171 MONDO:0005240 True nephrolithiasis kidney disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0008171 MONDO:0024647 True nephrolithiasis urolithiasis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0008171 MONDO:0005240 True nephrolithiasis kidney disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0008172 MONDO:0016620 True hypertrophic osteoarthropathy, primary, autosomal dominant primary hypertrophic osteoarthropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0008173 MONDO:0016471 True pachyonychia congenita 1 pachyonychia congenita UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0008174 MONDO:0016471 True pachyonychia congenita 2 pachyonychia congenita UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0008176 MONDO:0005382 True Paget disease of bone 3 bone Paget disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0008175 MONDO:0019707 True pacman dysplasia primary osteolysis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008176 MONDO:0005382 True Paget disease of bone 3 bone Paget disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED MONDO:0008177 MONDO:0021165 True extramammary Paget disease Paget disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008178 MONDO:0000507 True inclusion body myopathy with Paget disease of bone and frontotemporal dementia type 1 inclusion body myopathy with Paget disease of bone and frontotemporal dementia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0008178 MONDO:0000507 True inclusion body myopathy with Paget disease of bone and frontotemporal dementia type 1 inclusion body myopathy with Paget disease of bone and frontotemporal dementia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0008179 MONDO:0003847 True paroxysmal extreme pain disorder hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0008182 MONDO:0015161 True nasopalpebral lipoma-coloboma syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008183 MONDO:0002356 True annular pancreas pancreas disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0008187 MONDO:0031240 True panic disorder 1 familial panic disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0008192 MONDO:0000448 True paragangliomas 1 paraganglioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0008195 MONDO:0016120 True paramyotonia congenita of Von Eulenburg myotonic syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008196 MONDO:0018240 True parastremmatic dwarfism TRPV4-related bone disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008196 MONDO:0019698 True parastremmatic dwarfism bent bone dysplasia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008197 MONDO:0018953 True parietal foramina 1 parietal foramina UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0008199 MONDO:0005180 True late-onset Parkinson disease Parkinson disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0008210 MONDO:0020381 True patterned macular dystrophy 1 patterned macular dystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0008218 MONDO:0006594 True Hailey-Hailey disease pemphigus UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0008219 MONDO:0006594 True pemphigus vulgaris pemphigus SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0008198 MONDO:0018230 True parietal foramina with cleidocranial dysplasia skeletal dysplasia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008199 MONDO:0005180 True late-onset Parkinson disease Parkinson disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0008200 MONDO:0008199 True autosomal dominant Parkinson disease 1 late-onset Parkinson disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED +MONDO:0008201 MONDO:0002254 True Perry syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0008201 MONDO:0003847 True Perry syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0008205 MONDO:0018234 True patella aplasia/hypoplasia dysostosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008207 MONDO:0002342 True chondromalacia patellae chondromalacia UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0008209 MONDO:0011827 True Char syndrome patent ductus arteriosus UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED +MONDO:0008210 MONDO:0020381 True patterned macular dystrophy 1 patterned macular dystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0008214 MONDO:0000426 True Pelger-Huet anomaly autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0008215 MONDO:0016956 True adult-onset autosomal dominant demyelinating leukodystrophy partial trisomy of the long arm of chromosome 5 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008215 MONDO:0019046 True adult-onset autosomal dominant demyelinating leukodystrophy leukodystrophy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED +MONDO:0008217 MONDO:0018234 True pelvis-shoulder dysplasia dysostosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008217 MONDO:0019054 True pelvis-shoulder dysplasia congenital limb malformation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008218 MONDO:0006594 True Hailey-Hailey disease pemphigus UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0008218 MONDO:0019268 True Hailey-Hailey disease epidermal disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008219 MONDO:0006594 True pemphigus vulgaris pemphigus SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0008221 MONDO:0019232 True prolidase deficiency inborn disorder of peptide metabolism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008222 MONDO:0000995 True Andersen-Tawil syndrome familial periodic paralysis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0008222 MONDO:0019119 True Andersen-Tawil syndrome muscular channelopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008222 MONDO:0019171 True Andersen-Tawil syndrome familial long QT syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0008228 MONDO:0001700 True pernicious anemia megaloblastic anemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0008234 MONDO:0019003 True multiple endocrine neoplasia type 2A multiple endocrine neoplasia type 2 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008250 MONDO:0000050 True isolated growth hormone deficiency type II isolated congenital growth hormone deficiency UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0008262 MONDO:0002254 True Poland syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0008223 MONDO:0000995 True hypokalemic periodic paralysis familial periodic paralysis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0008224 MONDO:0000995 True hyperkalemic periodic paralysis familial periodic paralysis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0008228 MONDO:0006873 True pernicious anemia nutritional deficiency disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0008231 MONDO:0002036 True Peyronie disease penile disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0008234 MONDO:0000426 True multiple endocrine neoplasia type 2A autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0008234 MONDO:0019003 True multiple endocrine neoplasia type 2A multiple endocrine neoplasia type 2 UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008237 MONDO:0018234 True phocomelia-ectrodactyly-deafness-sinus arrhythmia syndrome dysostosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008237 MONDO:0019054 True phocomelia-ectrodactyly-deafness-sinus arrhythmia syndrome congenital limb malformation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008244 MONDO:0000426 True piebaldism autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0008244 MONDO:0019290 True piebaldism hypopigmentation of the skin UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008245 MONDO:0019290 True piebald trait-neurologic defects syndrome hypopigmentation of the skin UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008250 MONDO:0000050 True isolated growth hormone deficiency type II isolated congenital growth hormone deficiency UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0008259 MONDO:0002076 True familial spontaneous pneumothorax pneumothorax UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0008260 MONDO:0019276 True Kindler syndrome inherited epidermolysis bullosa UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008261 MONDO:0016382 True hereditary sclerosing poikiloderma, Weary type hereditary poikiloderma UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008262 MONDO:0015856 True Poland syndrome syndromic breast hypoplasia/aplasia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008262 MONDO:0019054 True Poland syndrome congenital limb malformation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008263 MONDO:0004691 True polycystic kidney disease 1 autosomal dominant polycystic kidney disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0008264 MONDO:0019741 True autosomal dominant medullary cystic kidney disease with or without hyperuricemia familial cystic renal disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008265 MONDO:0000447 True polycystic liver disease 1 autosomal dominant polycystic liver disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0008267 MONDO:0015375 True orofaciodigital syndrome V orofaciodigital syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0008267 MONDO:0015375 True orofaciodigital syndrome V orofaciodigital syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED MONDO:0008269 MONDO:0017425 True polydactyly of a biphalangeal thumb preaxial polydactyly of fingers UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0008270 MONDO:0017425 True polydactyly of a triphalangeal thumb preaxial polydactyly of fingers UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0008271 MONDO:0017425 True polydactyly of an index finger preaxial polydactyly of fingers UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0008272 MONDO:0017425 True polysyndactyly 4 preaxial polydactyly of fingers UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0008274 MONDO:0000845 True polyostotic fibrous dysplasia fibrous dysplasia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008277 MONDO:0004298 True stomach polyp stomach disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008277 MONDO:0005079 True stomach polyp polyp UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008283 MONDO:0004335 True Cronkhite-Canada syndrome digestive system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0008287 MONDO:0002254 True Greig cephalopolysyndactyly syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0008289 MONDO:0020496 True brain small vessel disease 1 with or without ocular anomalies familial porencephaly UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0008291 MONDO:0006602 True porokeratosis plantaris palmaris et disseminata porokeratosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0008294 MONDO:0019142 True acute intermittent porphyria inherited porphyria UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0008297 MONDO:0019142 True variegate porphyria inherited porphyria UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0008300 MONDO:0002254 True Prader-Willi syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0008302 MONDO:0019165 True centra precocious puberty 1 central precocious puberty UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0008310 MONDO:0002254 True Hutchinson-Gilford progeria syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0008274 MONDO:0000845 True polyostotic fibrous dysplasia fibrous dysplasia UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008275 MONDO:0019707 True familial expansile osteolysis primary osteolysis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008276 MONDO:0000426 True generalized juvenile polyposis/juvenile polyposis coli autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0008276 MONDO:0017380 True generalized juvenile polyposis/juvenile polyposis coli juvenile polyposis syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008280 MONDO:0015185 True Peutz-Jeghers syndrome intestinal polyposis syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008283 MONDO:0004335 True Cronkhite-Canada syndrome digestive system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0008283 MONDO:0015185 True Cronkhite-Canada syndrome intestinal polyposis syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008283 MONDO:0019287 True Cronkhite-Canada syndrome ectodermal dysplasia syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS +MONDO:0008286 MONDO:0019054 True crossed polysyndactyly congenital limb malformation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008289 MONDO:0020496 True brain small vessel disease 1 with or without ocular anomalies familial porencephaly UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0008291 MONDO:0006602 True porokeratosis plantaris palmaris et disseminata porokeratosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0008292 MONDO:0017675 True punctate palmoplantar keratoderma type 2 punctate palmoplantar keratoderma UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0008294 MONDO:0002520 True acute intermittent porphyria hepatic porphyria UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0008294 MONDO:0019142 True acute intermittent porphyria inherited porphyria UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0008295 MONDO:0015104 True sporadic porphyria cutanea tarda porphyria cutanea tarda UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008296 MONDO:0015104 True familial porphyria cutanea tarda porphyria cutanea tarda UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008297 MONDO:0002520 True variegate porphyria hepatic porphyria UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0008297 MONDO:0019142 True variegate porphyria inherited porphyria UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0008298 MONDO:0018234 True postaxial tetramelic oligodactyly dysostosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008298 MONDO:0019054 True postaxial tetramelic oligodactyly congenital limb malformation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008300 MONDO:0002254 True Prader-Willi syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0008300 MONDO:0015770 True Prader-Willi syndrome congenital hypogonadotropic hypogonadism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008300 MONDO:0019040 True Prader-Willi syndrome chromosomal disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0008301 MONDO:0002254 True Guttmacher syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0008301 MONDO:0003847 True Guttmacher syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0008302 MONDO:0019165 True centra precocious puberty 1 central precocious puberty UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0008303 MONDO:0003847 True familial male-limited precocious puberty hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0008303 MONDO:0015791 True familial male-limited precocious puberty peripheral precocious puberty UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008305 MONDO:0002254 True Currarino triad syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0008305 MONDO:0018234 True Currarino triad dysostosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0008306 MONDO:0005620 True ABri amyloidosis cerebral amyloid angiopathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0008306 MONDO:0018591 True ABri amyloidosis ITM2B amyloidosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008310 MONDO:0002254 True Hutchinson-Gilford progeria syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0008310 MONDO:0019707 True Hutchinson-Gilford progeria syndrome primary osteolysis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008310 MONDO:0020732 True Hutchinson-Gilford progeria syndrome progeria UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0008315 MONDO:0005836 True prostate cancer male reproductive organ cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0008310 MONDO:0021106 True Hutchinson-Gilford progeria syndrome laminopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008312 MONDO:0015161 True autosomal dominant prognathism multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008315 MONDO:0005836 True prostate cancer male reproductive organ cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0008315 MONDO:0021259 True prostate cancer prostate neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0008318 MONDO:0002254 True Proteus syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0008323 MONDO:0002254 True Liddle syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0008327 MONDO:0002254 True exfoliation syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0008332 MONDO:0000009 True platelet-type von Willebrand disease inherited bleeding disorder, platelet-type UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0008316 MONDO:0019145 True thrombophilia due to protein C deficiency, autosomal dominant hereditary thrombophilia due to congenital protein C deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0008318 MONDO:0002254 True Proteus syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0008318 MONDO:0017623 True Proteus syndrome PTEN hamartoma tumor syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0008318 MONDO:0018230 True Proteus syndrome skeletal dysplasia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008318 MONDO:0019716 True Proteus syndrome overgrowth syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008322 MONDO:0005516 True pseudoachondroplasia osteochondrodysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0008322 MONDO:0018230 True pseudoachondroplasia skeletal dysplasia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008323 MONDO:0006510 True Liddle syndrome renal tubular transport disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0008327 MONDO:0001554 True exfoliation syndrome phacogenic glaucoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0008327 MONDO:0002289 True exfoliation syndrome iris disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0008329 MONDO:0019161 True autosomal dominant pseudohypoaldosteronism type 1 pseudohypoaldosteronism type 1 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008332 MONDO:0000009 True platelet-type von Willebrand disease inherited bleeding disorder, platelet-type UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0008335 MONDO:0015161 True short stature-craniofacial anomalies-genital hypoplasia syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008338 MONDO:0000426 True contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0008338 MONDO:0019942 True contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A distal arthrogryposis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS MONDO:0008338 MONDO:0020937 True contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A contractures, pterygia, and variable skeletal fusions syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0008340 MONDO:0000728 True ptosis, hereditary congenital, 1 ptosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0008339 MONDO:0021154 True antecubital pterygium syndrome dermis disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008340 MONDO:0000728 True ptosis, hereditary congenital, 1 ptosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0008343 MONDO:0016581 True pulmonary atresia with ventricular septal defect conotruncal heart malformations UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0008346 MONDO:0001436 True pulmonary hemosiderosis hemosiderosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0008346 MONDO:0015926 True pulmonary hemosiderosis pneumoconiosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0008355 MONDO:0100239 True pyloric stenosis, infantile hypertrophic, 1 inherited hypertrophic pyloric stenosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0008364 MONDO:0005294 True Raynaud disease peripheral vascular disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0008368 MONDO:0015827 True autosomal dominant distal renal tubular acidosis distal renal tubular acidosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0008375 MONDO:0005283 True retinal detachment retinal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0008377 MONDO:0019200 True retinitis pigmentosa 1 retinitis pigmentosa UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0008378 MONDO:0019200 True retinitis pigmentosa 9 retinitis pigmentosa UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0008379 MONDO:0019200 True retinitis pigmentosa 10 retinitis pigmentosa UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0008383 MONDO:0005554 True rheumatoid arthritis rheumatic disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0008383 MONDO:0005578 True rheumatoid arthritis arthritic joint disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0008386 MONDO:0019187 True Axenfeld-Rieger syndrome type 1 Axenfeld-Rieger syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0008393 MONDO:0019188 True Rubinstein-Taybi syndrome due to CREBBP mutations Rubinstein-Taybi syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0008394 MONDO:0002254 True Silver-Russell syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0008357 MONDO:0015161 True radial hypoplasia-triphalangeal thumbs-hypospadias-maxillary diastema syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008359 MONDO:0018234 True radio-renal syndrome dysostosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008359 MONDO:0019054 True radio-renal syndrome congenital limb malformation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008364 MONDO:0005294 True Raynaud disease peripheral vascular disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0008368 MONDO:0015827 True autosomal dominant distal renal tubular acidosis distal renal tubular acidosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0008371 MONDO:0017747 True Dowling-Degos disease disorder of fucoglycosan synthesis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008371 MONDO:0019289 True Dowling-Degos disease hyperpigmentation of the skin UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008373 MONDO:0000473 True retinal arterial tortuosity arterial disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0008374 MONDO:0000455 True retinal cone dystrophy type 1 cone dystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0008375 MONDO:0005283 True retinal detachment retinal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0008377 MONDO:0019200 True retinitis pigmentosa 1 retinitis pigmentosa UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0008378 MONDO:0019200 True retinitis pigmentosa 9 retinitis pigmentosa UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0008379 MONDO:0019200 True retinitis pigmentosa 10 retinitis pigmentosa UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0008380 MONDO:0004338 True retinoblastoma retinal cell cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0008381 MONDO:0019200 True dominant pericentral pigmentary retinopathy retinitis pigmentosa UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED +MONDO:0008383 MONDO:0000589 True rheumatoid arthritis autoimmune disorder of musculoskeletal system UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0008383 MONDO:0005578 True rheumatoid arthritis arthritic joint disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0008386 MONDO:0019187 True Axenfeld-Rieger syndrome type 1 Axenfeld-Rieger syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0008387 MONDO:0003847 True ring dermoid of cornea hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0008388 MONDO:0019278 True ringed hair disease hair anomaly UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008389 MONDO:0019978 True autosomal dominant Robinow syndrome Robinow syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008393 MONDO:0019188 True Rubinstein-Taybi syndrome due to CREBBP mutations Rubinstein-Taybi syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0008397 MONDO:0002254 True aplasia of lacrimal and salivary glands syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0008397 MONDO:0003847 True aplasia of lacrimal and salivary glands hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0008401 MONDO:0000385 True pleomorphic adenoma benign digestive system neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0008401 MONDO:0017168 True pleomorphic adenoma benign epithelial tumor of salivary glands UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008401 MONDO:0021043 True pleomorphic adenoma mixed neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008410 MONDO:0018381 True Scheuermann disease osteochondrosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0008403 MONDO:0019054 True scalp defects-postaxial polydactyly syndrome congenital limb malformation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008403 MONDO:0019294 True scalp defects-postaxial polydactyly syndrome mixed dermis disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008404 MONDO:0015161 True scalp-ear-nipple syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008404 MONDO:0019287 True scalp-ear-nipple syndrome ectodermal dysplasia syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED +MONDO:0008404 MONDO:0019294 True scalp-ear-nipple syndrome mixed dermis disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008407 MONDO:0016187 True neurogenic scapuloperoneal syndrome, Kaeser type qualitative or quantitative defects of desmin UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008407 MONDO:0024257 True neurogenic scapuloperoneal syndrome, Kaeser type hereditary motor neuron disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008408 MONDO:0000426 True scapuloperoneal spinal muscular atrophy, autosomal dominant autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0008408 MONDO:0024257 True scapuloperoneal spinal muscular atrophy, autosomal dominant hereditary motor neuron disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008409 MONDO:0016195 True congenital myopathy 7A, myosin storage, autosomal dominant qualitative or quantitative defects of beta-myosin heavy chain (MYH7) UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008409 MONDO:0019952 True congenital myopathy 7A, myosin storage, autosomal dominant congenital myopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0008410 MONDO:0018381 True Scheuermann disease osteochondrosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0008411 MONDO:0002254 True ulnar-mammary syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0008412 MONDO:0015254 True intestinal schistosomiasis schistosomiasis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0008414 MONDO:0005090 True schizophrenia 1 schizophrenia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED +MONDO:0008416 MONDO:0017666 True palmoplantar keratoderma-sclerodactyly syndrome diffuse palmoplantar keratoderma UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008420 MONDO:0006566 True seborrheic keratosis keratosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0008421 MONDO:0015161 True flat face-microstomia-ear anomaly syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008422 MONDO:0000426 True autosomal dominant sideroblastic anemia autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0008422 MONDO:0020099 True autosomal dominant sideroblastic anemia inherited sideroblastic anemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0008428 MONDO:0002254 True septooptic dysplasia syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0008425 MONDO:0015159 True omphalocele syndrome, Shprintzen-Goldberg type multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008426 MONDO:0015159 True Shprintzen-Goldberg syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008426 MONDO:0015338 True Shprintzen-Goldberg syndrome syndromic craniosynostosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008426 MONDO:0017310 True Shprintzen-Goldberg syndrome Marfan and Marfan-related disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008428 MONDO:0000429 True septooptic dysplasia autosomal genetic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0008428 MONDO:0002254 True septooptic dysplasia syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0008428 MONDO:0013099 True septooptic dysplasia combined pituitary hormone deficiencies, genetic form UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0008433 MONDO:0000402 True small cell lung carcinoma small cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0008433 MONDO:0005138 True small cell lung carcinoma lung carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0008433 MONDO:0005138 True small cell lung carcinoma lung carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0008433 MONDO:0005454 True small cell lung carcinoma lung neuroendocrine neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0008437 MONDO:0019064 True hereditary spastic paraplegia 3A hereditary spastic paraplegia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0008438 MONDO:0019064 True hereditary spastic paraplegia 4 hereditary spastic paraplegia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0008449 MONDO:0002320 True spina bifida congenital nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0008450 MONDO:0015304 True spinal arachnoiditis arachnoiditis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008451 MONDO:0015626 True neuronopathy, distal hereditary motor, autosomal dominant 1 Charcot-Marie-Tooth disease UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS +MONDO:0008434 MONDO:0000761 True Smith-Magenis syndrome syndrome caused by partial chromosomal deletion UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0008434 MONDO:0003847 True Smith-Magenis syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0008434 MONDO:0015159 True Smith-Magenis syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008436 MONDO:0000473 True Sneddon syndrome arterial disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0008437 MONDO:0019064 True hereditary spastic paraplegia 3A hereditary spastic paraplegia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0008438 MONDO:0019064 True hereditary spastic paraplegia 4 hereditary spastic paraplegia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0008440 MONDO:0015087 True spastic paraplegia-nephritis-deafness syndrome autosomal dominant complex spastic paraplegia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008442 MONDO:0015087 True spastic paraplegia-neuropathy-poikiloderma syndrome autosomal dominant complex spastic paraplegia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008443 MONDO:0015087 True spastic paraplegia-precocious puberty syndrome autosomal dominant complex spastic paraplegia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008445 MONDO:0015159 True delayed speech-facial asymmetry-strabismus-ear lobe creases syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008447 MONDO:0019350 True hereditary spherocytosis type 1 hereditary spherocytosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0008451 MONDO:0015362 True neuronopathy, distal hereditary motor, autosomal dominant 1 neuronopathy, distal hereditary motor, autosomal dominant UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0008453 MONDO:0001516 True adult-onset proximal spinal muscular atrophy, autosomal dominant spinal muscular atrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0008453 MONDO:0024257 True adult-onset proximal spinal muscular atrophy, autosomal dominant hereditary motor neuron disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008457 MONDO:0019793 True spinocerebellar ataxia type 6 autosomal dominant cerebellar ataxia type III UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008458 MONDO:0005144 True spinocerebellar ataxia type 2 familial amyotrophic lateral sclerosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0008464 MONDO:0016576 True split hand-foot malformation 1 split hand-foot malformation UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0008458 MONDO:0015548 True spinocerebellar ataxia type 2 Huntington disease-like syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008458 MONDO:0019792 True spinocerebellar ataxia type 2 autosomal dominant cerebellar ataxia type I UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008460 MONDO:0018234 True splenogonadal fusion-limb defects-micrognathia syndrome dysostosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008460 MONDO:0019054 True splenogonadal fusion-limb defects-micrognathia syndrome congenital limb malformation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008464 MONDO:0016576 True split hand-foot malformation 1 split hand-foot malformation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0008465 MONDO:0018237 True Patterson-Stevenson-Fontaine syndrome acrofacial dysostosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008466 MONDO:0018234 True Karsch-Neugebauer syndrome dysostosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008466 MONDO:0019054 True Karsch-Neugebauer syndrome congenital limb malformation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008467 MONDO:0015161 True Czeizel-Losonci syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008468 MONDO:0024512 True spondyloarthropathy, susceptibility to, 2 spondyloarthropathy, susceptibility to UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0008470 MONDO:0016761 True spondyloepiphyseal dysplasia with punctate corneal dystrophy spondyloepiphyseal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0008471 MONDO:0016761 True spondyloepiphyseal dysplasia congenita spondyloepiphyseal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0008471 MONDO:0022800 True spondyloepiphyseal dysplasia congenita type 2 collagenopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008473 MONDO:0018240 True spondyloepimetaphyseal dysplasia, Maroteaux type TRPV4-related bone disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008474 MONDO:0000426 True spondyloepiphyseal dysplasia tarda, autosomal dominant autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0008474 MONDO:0019667 True spondyloepiphyseal dysplasia tarda, autosomal dominant spondyloepiphyseal dysplasia tarda UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0008475 MONDO:0000836 True spondylolisthesis disease of bone structure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0008476 MONDO:0016763 True spondyloepimetaphyseal dysplasia, Strudwick type spondylometaphyseal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0008477 MONDO:0016763 True spondylometaphyseal dysplasia, Kozlowski type spondylometaphyseal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0008479 MONDO:0016763 True spondylometaphyseal dysplasia, 'corner fracture' type spondylometaphyseal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0008476 MONDO:0022800 True spondyloepimetaphyseal dysplasia, Strudwick type type 2 collagenopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008476 MONDO:0100510 True spondyloepimetaphyseal dysplasia, Strudwick type spondyloepimetaphyseal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0008477 MONDO:0016763 True spondylometaphyseal dysplasia, Kozlowski type spondylometaphyseal dysplasia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0008477 MONDO:0018240 True spondylometaphyseal dysplasia, Kozlowski type TRPV4-related bone disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008478 MONDO:0016763 True spondylometaphyseal dysplasia, Schmidt type spondylometaphyseal dysplasia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED +MONDO:0008478 MONDO:0022800 True spondylometaphyseal dysplasia, Schmidt type type 2 collagenopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008479 MONDO:0016763 True spondylometaphyseal dysplasia, 'corner fracture' type spondylometaphyseal dysplasia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0008479 MONDO:0022800 True spondylometaphyseal dysplasia, 'corner fracture' type type 2 collagenopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008482 MONDO:0015929 True Sprengel deformity thoracic malformation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008483 MONDO:0000723 True stuttering, familial persistent, 1 stutter disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0008487 MONDO:0002254 True polycystic ovary syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0008485 MONDO:0006607 True sebocystomatosis sebaceous gland disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0008487 MONDO:0005151 True polycystic ovary syndrome endocrine system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0008488 MONDO:0015159 True holoprosencephaly-radial heart renal anomalies syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008490 MONDO:0008975 True otospondylomegaepiphyseal dysplasia, autosomal dominant otospondylomegaepiphyseal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0008491 MONDO:0002254 True stiff-person syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0008501 MONDO:0003847 True Sturge-Weber syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0008501 MONDO:0042983 True Sturge-Weber syndrome neurocutaneous syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008519 MONDO:0017923 True multiple synostoses syndrome 1 multiple synostoses syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0008523 MONDO:0007179 True Blau syndrome autoimmune disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS +MONDO:0008490 MONDO:0015161 True otospondylomegaepiphyseal dysplasia, autosomal dominant multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008491 MONDO:0005071 True stiff-person syndrome nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0008493 MONDO:0020102 True overhydrated hereditary stomatocytosis hereditary stomatocytosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008494 MONDO:0020102 True cryohydrocytosis hereditary stomatocytosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008495 MONDO:0018795 True platelet storage pool deficiency syndromic constitutional thrombocytopenia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008497 MONDO:0018795 True Stormorken syndrome syndromic constitutional thrombocytopenia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008504 MONDO:0042981 True supravalvular aortic stenosis aortic valve stenosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0008510 MONDO:0019054 True symphalangism with multiple anomalies of hands and feet congenital limb malformation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008511 MONDO:0000426 True proximal symphalangism autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0008511 MONDO:0019054 True proximal symphalangism congenital limb malformation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008512 MONDO:0019530 True syndactyly type 1 non-syndromic syndactyly UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008514 MONDO:0019530 True syndactyly type 3 non-syndromic syndactyly UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008515 MONDO:0019530 True syndactyly type 4 non-syndromic syndactyly UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008516 MONDO:0019530 True syndactyly type 5 non-syndromic syndactyly UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008518 MONDO:0001411 True calcaneonavicular coalition synostosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0008519 MONDO:0017923 True multiple synostoses syndrome 1 multiple synostoses syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0008521 MONDO:0019054 True tarsal-carpal coalition syndrome congenital limb malformation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008534 MONDO:0019293 True generalized essential telangiectasia skin vascular disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008535 MONDO:0019180 True telangiectasia, hereditary hemorrhagic, type 1 hereditary hemorrhagic telangiectasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0008538 MONDO:0002341 True temporal arteritis granulomatous angiitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0008541 MONDO:0002329 True spermatic cord torsion testicular disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0008542 MONDO:0005453 True tetralogy of fallot congenital heart disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0008546 MONDO:0017042 True thanatophoric dysplasia type 1 thanatophoric dysplasia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008547 MONDO:0017042 True thanatophoric dysplasia type 2 thanatophoric dysplasia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008552 MONDO:0000009 True platelet-type bleeding disorder 16 inherited bleeding disorder, platelet-type UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0008553 MONDO:0000009 True platelet-type bleeding disorder 17 inherited bleeding disorder, platelet-type UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0008538 MONDO:0003346 True temporal arteritis central nervous system vasculitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0008540 MONDO:0019054 True extensor tendons of finger anomalies congenital limb malformation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008541 MONDO:0002329 True spermatic cord torsion testicular disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0008542 MONDO:0005453 True tetralogy of fallot congenital heart disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0008542 MONDO:0016581 True tetralogy of fallot conotruncal heart malformations UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0008544 MONDO:0018234 True tetramelic monodactyly dysostosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008544 MONDO:0019054 True tetramelic monodactyly congenital limb malformation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008546 MONDO:0017042 True thanatophoric dysplasia type 1 thanatophoric dysplasia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008547 MONDO:0017042 True thanatophoric dysplasia type 2 thanatophoric dysplasia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008551 MONDO:0015929 True thoracolaryngopelvic dysplasia thoracic malformation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008551 MONDO:0019691 True thoracolaryngopelvic dysplasia short rib dysplasia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008552 MONDO:0000009 True platelet-type bleeding disorder 16 inherited bleeding disorder, platelet-type UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0008553 MONDO:0000009 True platelet-type bleeding disorder 17 inherited bleeding disorder, platelet-type UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED MONDO:0008554 MONDO:0019111 True thrombocythemia 1 familial thrombocytosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0008555 MONDO:0100241 True thrombocytopenia 2 inherited thrombocytopenia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0008558 MONDO:0043768 True autoimmune thrombocytopenic purpura thrombocytopenic purpura UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008557 MONDO:0016910 True Paris-Trousseau thrombocytopenia partial deletion of the long arm of chromosome 11 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008557 MONDO:0020117 True Paris-Trousseau thrombocytopenia alpha granule disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008558 MONDO:0004680 True autoimmune thrombocytopenic purpura primary thrombocytopenia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0008558 MONDO:0019098 True autoimmune thrombocytopenic purpura autoimmune thrombocytopenia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008559 MONDO:0100240 True thrombophilia due to thrombin defect inherited thrombophilia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0008560 MONDO:0100240 True thrombophilia due to activated protein C resistance inherited thrombophilia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0008564 MONDO:0001222 True DiGeorge syndrome congenital T-cell immunodeficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0008562 MONDO:0019054 True thumb deformity-alopecia-pigmentation anomaly syndrome congenital limb malformation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008563 MONDO:0019054 True thumb stiffness-brachydactyly-intellectual disability syndrome congenital limb malformation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008565 MONDO:0015476 True familial thyroglossal duct cyst cysts and fistulae of the face and oral cavity UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008567 MONDO:0017896 True thyroid cancer, nonmedullary, 1 familial nonmedullary thyroid carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0008575 MONDO:0005303 True nicotine dependence drug dependence UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0008582 MONDO:0019287 True tooth and nail syndrome ectodermal dysplasia syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0008572 MONDO:0018234 True tibia, hypoplasia or aplasia of, with polydactyly dysostosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0008572 MONDO:0019054 True tibia, hypoplasia or aplasia of, with polydactyly congenital limb malformation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008582 MONDO:0019287 True tooth and nail syndrome ectodermal dysplasia syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS MONDO:0008583 MONDO:0005031 True inherited torticollis fibromatosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008585 MONDO:0002254 True HELLP syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0008590 MONDO:0003233 True tremor, hereditary essential, 1 essential tremor UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0008585 MONDO:0001641 True HELLP syndrome severe pre-eclampsia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0008590 MONDO:0003233 True tremor, hereditary essential, 1 essential tremor UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0008592 MONDO:0018230 True tricho-dento-osseous syndrome skeletal dysplasia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008592 MONDO:0019287 True tricho-dento-osseous syndrome ectodermal dysplasia syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS +MONDO:0008596 MONDO:0000426 True trichorhinophalangeal syndrome type I autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0008596 MONDO:0017951 True trichorhinophalangeal syndrome type I trichorhinophalangeal syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0008597 MONDO:0000426 True trichorhinophalangeal syndrome, type III autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0008597 MONDO:0017951 True trichorhinophalangeal syndrome, type III trichorhinophalangeal syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0008598 MONDO:0019278 True trichodysplasia-xeroderma syndrome hair anomaly UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008599 MONDO:0003543 True trigeminal neuralgia trigeminal nerve disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0008599 MONDO:0016374 True trigeminal neuralgia cranial neuralgia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008603 MONDO:0018065 True trigonocephaly 1 isolated trigonocephaly UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0008612 MONDO:0001734 True tuberous sclerosis 1 tuberous sclerosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0008617 MONDO:0005265 True inflammatory bowel disease 11 inflammatory bowel disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0008627 MONDO:0006295 True ureter cancer malignant urinary system neoplasm SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0008607 MONDO:0019054 True triphalangeal thumbs-brachyectrodactyly syndrome congenital limb malformation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008610 MONDO:0001703 True blue color blindness color vision disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0008610 MONDO:0003847 True blue color blindness hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0008611 MONDO:0018234 True humerus trochlea aplasia dysostosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008611 MONDO:0019054 True humerus trochlea aplasia congenital limb malformation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008612 MONDO:0001734 True tuberous sclerosis 1 tuberous sclerosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0008617 MONDO:0005265 True inflammatory bowel disease 11 inflammatory bowel disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0008618 MONDO:0018230 True mesomelic dwarfism, Reinhardt-Pfeiffer type skeletal dysplasia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008619 MONDO:0018230 True ulna metaphyseal dysplasia syndrome skeletal dysplasia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008620 MONDO:0018230 True upper limb mesomelic dysplasia skeletal dysplasia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008621 MONDO:0019278 True uncombable hair syndrome hair anomaly UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008622 MONDO:0019287 True tricho-retino-dento-digital syndrome ectodermal dysplasia syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0008627 MONDO:0006295 True ureter cancer malignant urinary system neoplasm SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0008627 MONDO:0021111 True ureter cancer ureter neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008628 MONDO:0001926 True ureterocele ureteral disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0008642 MONDO:0002254 True VACTERL/vater association syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0008647 MONDO:0024573 True hypertrophic cardiomyopathy 1 familial hypertrophic cardiomyopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0008628 MONDO:0001926 True ureterocele ureteral disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0008633 MONDO:0000426 True Muckle-Wells syndrome autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0008633 MONDO:0016168 True Muckle-Wells syndrome cryopyrin-associated periodic syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008637 MONDO:0016064 True bifid uvula cleft palate UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008638 MONDO:0004634 True varicose disease vein disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0008642 MONDO:0002254 True VACTERL/vater association syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0008645 MONDO:0015161 True ventricular extrasystoles with syncopal episodes-perodactyly-robin sequence syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008647 MONDO:0024573 True hypertrophic cardiomyopathy 1 familial hypertrophic cardiomyopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0008650 MONDO:0015161 True posterior fusion of lumbosacral vertebrae-blepharoptosis syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008652 MONDO:0003847 True congenital vertical talus hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0008652 MONDO:0017427 True congenital vertical talus congenital deformities of limbs UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008653 MONDO:0017329 True vesicoureteral reflux 1 familial vesicoureteral reflux UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0008654 MONDO:0005712 True spinocerebellar ataxia 27A congenital nystagmus UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0008660 MONDO:0000044 True autosomal dominant hypophosphatemic rickets hereditary hypophosphatemic rickets UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0008661 MONDO:0002406 True vitiligo dermatitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0008667 MONDO:0042983 True von Hippel-Lindau disease neurocutaneous syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008670 MONDO:0018094 True Waardenburg syndrome type 1 Waardenburg syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0008671 MONDO:0019517 True Waardenburg syndrome type 2A Waardenburg syndrome type 2 UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008675 MONDO:0002254 True Freeman-Sheldon syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0008675 MONDO:0008779 True Freeman-Sheldon syndrome arthrogryposis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008675 MONDO:0019942 True Freeman-Sheldon syndrome distal arthrogryposis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0008676 MONDO:0015748 True white sponge nevus 1 hereditary mucosal leukokeratosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0008678 MONDO:0002254 True Williams syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0008654 MONDO:0020380 True spinocerebellar ataxia 27A autosomal dominant cerebellar ataxia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0008659 MONDO:0019220 True transcobalamin I deficiency inborn disorder of cobalamin metabolism and transport UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008660 MONDO:0000044 True autosomal dominant hypophosphatemic rickets hereditary hypophosphatemic rickets UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0008660 MONDO:0000426 True autosomal dominant hypophosphatemic rickets autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0008661 MONDO:0007179 True vitiligo autoimmune disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0008668 MONDO:0019565 True von Willebrand disease 1 hereditary von Willebrand disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0008670 MONDO:0018094 True Waardenburg syndrome type 1 Waardenburg syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0008673 MONDO:0015161 True acrofacial dysostosis, Weyers type multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008673 MONDO:0018237 True acrofacial dysostosis, Weyers type acrofacial dysostosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0008673 MONDO:0019287 True acrofacial dysostosis, Weyers type ectodermal dysplasia syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS +MONDO:0008675 MONDO:0015161 True Freeman-Sheldon syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008675 MONDO:0019942 True Freeman-Sheldon syndrome distal arthrogryposis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0008676 MONDO:0015748 True white sponge nevus 1 hereditary mucosal leukokeratosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0008678 MONDO:0002254 True Williams syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0008678 MONDO:0016906 True Williams syndrome partial deletion of the long arm of chromosome 7 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008679 MONDO:0003321 True Wilms tumor 1 hereditary Wilms tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0008680 MONDO:0003321 True Wilms tumor 2 hereditary Wilms tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0008681 MONDO:0015356 True WAGR syndrome hereditary neoplastic syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008682 MONDO:0002254 True Denys-Drash syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0008681 MONDO:0015356 True WAGR syndrome hereditary neoplastic syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008681 MONDO:0016893 True WAGR syndrome partial deletion of the short arm of chromosome 11 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008681 MONDO:0020040 True WAGR syndrome 46,XY disorder of sex development UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008682 MONDO:0000426 True Denys-Drash syndrome autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0008682 MONDO:0002254 True Denys-Drash syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0008682 MONDO:0020040 True Denys-Drash syndrome 46,XY disorder of sex development UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008683 MONDO:0003321 True Wilms tumor 3 hereditary Wilms tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0008684 MONDO:0002254 True Wolf-Hirschhorn syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0008701 MONDO:0019648 True achondrogenesis type IA achondrogenesis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0008702 MONDO:0019648 True achondrogenesis type II achondrogenesis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0008703 MONDO:0019648 True acromesomelic dysplasia 2A achondrogenesis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS -MONDO:0008703 MONDO:0019696 True acromesomelic dysplasia 2A acromesomelic dysplasia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0008708 MONDO:0002254 True acrocallosal syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0008684 MONDO:0015159 True Wolf-Hirschhorn syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008684 MONDO:0022762 True Wolf-Hirschhorn syndrome chromosome 4 short arm deletion UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008685 MONDO:0000992 True Wolff-Parkinson-White syndrome heart conduction disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0008686 MONDO:0019278 True isolated familial wooly hair disorder hair anomaly UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008688 MONDO:0001713 True WT limb-blood syndrome inherited aplastic anemia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008689 MONDO:0017910 True dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema dehydrated hereditary stomatocytosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0008692 MONDO:0017774 True abetalipoproteinemia hypobetalipoproteinemia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0008692 MONDO:0020044 True abetalipoproteinemia autosomal recessive metabolic cerebellar ataxia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008692 MONDO:0020127 True abetalipoproteinemia hereditary peripheral neuropathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008693 MONDO:0002254 True ablepharon macrostomia syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0008693 MONDO:0003847 True ablepharon macrostomia syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0008694 MONDO:0015159 True pseudoprogeria syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008695 MONDO:0016987 True chorea-acanthocytosis neuroacanthocytosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0008695 MONDO:0019268 True chorea-acanthocytosis epidermal disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008695 MONDO:0020127 True chorea-acanthocytosis hereditary peripheral neuropathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008696 MONDO:0019268 True acanthosis nigricans-insulin resistance-muscle cramps-acral enlargement syndrome epidermal disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008698 MONDO:0003749 True achalasia esophageal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0008699 MONDO:0006025 True achalasia microcephaly syndrome autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0008700 MONDO:0005516 True acheiropody osteochondrodysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0008700 MONDO:0019713 True acheiropody non-syndromic limb reduction defect UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008701 MONDO:0019648 True achondrogenesis type IA achondrogenesis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0008702 MONDO:0019648 True achondrogenesis type II achondrogenesis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0008702 MONDO:0022800 True achondrogenesis type II type 2 collagenopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008703 MONDO:0019696 True acromesomelic dysplasia 2A acromesomelic dysplasia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0008704 MONDO:0017855 True short-limb skeletal dysplasia with severe combined immunodeficiency T-B- severe combined immunodeficiency UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008705 MONDO:0002561 True lysosomal acid phosphatase deficiency lysosomal storage disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008706 MONDO:0015161 True Ackerman syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008706 MONDO:0019287 True Ackerman syndrome ectodermal dysplasia syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0008707 MONDO:0015161 True acro-renal-mandibular syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008708 MONDO:0002254 True acrocallosal syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0008708 MONDO:0015159 True acrocallosal syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008709 MONDO:0015338 True acrocephalopolydactyly syndromic craniosynostosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008710 MONDO:0019012 True RAB23-related Carpenter syndrome Carpenter syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0008717 MONDO:0019696 True acromesomelic dysplasia 2C, Hunter-Thompson type acromesomelic dysplasia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0008742 MONDO:0018542 True autosomal dominant severe congenital neutropenia severe congenital neutropenia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0008746 MONDO:0018910 True oculocutaneous albinism type 2 oculocutaneous albinism UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0008747 MONDO:0018910 True oculocutaneous albinism type 3 oculocutaneous albinism UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0008752 MONDO:0019046 True Alexander disease leukodystrophy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS +MONDO:0008712 MONDO:0015161 True acrocraniofacial dysostosis multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008712 MONDO:0018237 True acrocraniofacial dysostosis acrofacial dysostosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008713 MONDO:0004689 True acrodermatitis enteropathica inborn metal metabolism disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0008713 MONDO:0017764 True acrodermatitis enteropathica disorder of zinc metabolism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008714 MONDO:0015159 True acrofacial dysostosis Rodriguez type multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008714 MONDO:0018237 True acrofacial dysostosis Rodriguez type acrofacial dysostosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0008715 MONDO:0018237 True acrofrontofacionasal dysostosis acrofacial dysostosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0008716 MONDO:0019303 True acrogeria premature aging syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008717 MONDO:0019696 True acromesomelic dysplasia 2C, Hunter-Thompson type acromesomelic dysplasia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0008718 MONDO:0019119 True Morvan syndrome muscular channelopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008721 MONDO:0017714 True medium chain acyl-CoA dehydrogenase deficiency acyl-CoA dehydrogenase deficiency UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008722 MONDO:0017714 True short chain acyl-CoA dehydrogenase deficiency acyl-CoA dehydrogenase deficiency UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008723 MONDO:0017713 True very long chain acyl-CoA dehydrogenase deficiency disorder of fatty acid oxidation and ketogenesis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008724 MONDO:0015168 True adducted thumbs-arthrogryposis syndrome, Christian type arthrogryposis multiplex congenita UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0008725 MONDO:0018479 True congenital lipoid adrenal hyperplasia due to STAR deficency congenital adrenal hyperplasia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008725 MONDO:0019852 True congenital lipoid adrenal hyperplasia due to STAR deficency inherited primary ovarian failure UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0008726 MONDO:0008803 True Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis Antley-Bixler syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008727 MONDO:0018479 True congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency congenital adrenal hyperplasia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008728 MONDO:0018479 True classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency congenital adrenal hyperplasia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008729 MONDO:0018479 True congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency congenital adrenal hyperplasia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008730 MONDO:0018479 True congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency congenital adrenal hyperplasia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008731 MONDO:0015129 True familial adrenal hypoplasia with absent pituitary luteinizing hormone chronic primary adrenal insufficiency UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0008731 MONDO:0015770 True familial adrenal hypoplasia with absent pituitary luteinizing hormone congenital hypogonadotropic hypogonadism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008731 MONDO:0020040 True familial adrenal hypoplasia with absent pituitary luteinizing hormone 46,XY disorder of sex development UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008733 MONDO:0015129 True familial glucocorticoid deficiency chronic primary adrenal insufficiency UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS +MONDO:0008740 MONDO:0015159 True agnathia-otocephaly complex multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008741 MONDO:0015161 True PAGOD syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008741 MONDO:0020040 True PAGOD syndrome 46,XY disorder of sex development UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008742 MONDO:0000426 True autosomal dominant severe congenital neutropenia autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0008742 MONDO:0018542 True autosomal dominant severe congenital neutropenia severe congenital neutropenia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0008743 MONDO:0015159 True Stimmler syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008744 MONDO:0015161 True alar cartilages hypoplasia-coloboma-telecanthus syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008745 MONDO:0018135 True oculocutaneous albinism type 1A oculocutaneous albinism type 1 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008746 MONDO:0018910 True oculocutaneous albinism type 2 oculocutaneous albinism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0008747 MONDO:0018910 True oculocutaneous albinism type 3 oculocutaneous albinism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0008749 MONDO:0019992 True pseudohypoparathyroidism type 2 pseudohypoparathyroidism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008750 MONDO:0015161 True microcephaly-albinism-digital anomalies syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008752 MONDO:0019046 True Alexander disease leukodystrophy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED +MONDO:0008753 MONDO:0017307 True alkaptonuria disorder of tyrosine metabolism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008754 MONDO:0019287 True alopecia - contractures - dwarfism - intellectual disability syndrome ectodermal dysplasia syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0008755 MONDO:0015650 True Moynahan syndrome epilepsy syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008755 MONDO:0019289 True Moynahan syndrome hyperpigmentation of the skin UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008756 MONDO:0002254 True alopecia - intellectual disability syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0008757 MONDO:0000005 True alopecia universalis congenita alopecia, isolated UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0008758 MONDO:0002254 True mitochondrial DNA depletion syndrome 4a syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0008762 MONDO:0018965 True autosomal recessive Alport syndrome Alport syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0008763 MONDO:0002254 True Alstrom syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0008764 MONDO:0018998 True Leber congenital amaurosis 1 Leber congenital amaurosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0008765 MONDO:0018998 True Leber congenital amaurosis 2 Leber congenital amaurosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0008771 MONDO:0019507 True amelogenesis imperfecta type 1G amelogenesis imperfecta UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0008758 MONDO:0020127 True mitochondrial DNA depletion syndrome 4a hereditary peripheral neuropathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008758 MONDO:0024237 True mitochondrial DNA depletion syndrome 4a inherited neurodegenerative disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008758 MONDO:0100512 True mitochondrial DNA depletion syndrome 4a mitochondrial DNA depletion syndrome, hepatocerebral form UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008759 MONDO:0016790 True oxoglutaricaciduria tricarboxylic acid cycle disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008759 MONDO:0020127 True oxoglutaricaciduria hereditary peripheral neuropathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008760 MONDO:0006025 True beta-ketothiolase deficiency autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0008760 MONDO:0019215 True beta-ketothiolase deficiency classic organic aciduria UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008760 MONDO:0019229 True beta-ketothiolase deficiency inborn disorder of ketolysis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008762 MONDO:0006025 True autosomal recessive Alport syndrome autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0008762 MONDO:0018965 True autosomal recessive Alport syndrome Alport syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0008763 MONDO:0002254 True Alstrom syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0008763 MONDO:0005308 True Alstrom syndrome ciliopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0008763 MONDO:0006025 True Alstrom syndrome autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0008764 MONDO:0018998 True Leber congenital amaurosis 1 Leber congenital amaurosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0008765 MONDO:0018998 True Leber congenital amaurosis 2 Leber congenital amaurosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0008766 MONDO:0019118 True amaurosis-hypertrichosis syndrome inherited retinal dystrophy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008771 MONDO:0019507 True amelogenesis imperfecta type 1G amelogenesis imperfecta UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0008774 MONDO:0017351 True 2-aminoadipic 2-oxoadipic aciduria inborn disorder of lysine and hydroxylysine metabolism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008777 MONDO:0000763 True gelatinous drop-like corneal dystrophy epithelial and subepithelial corneal dystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0008777 MONDO:0003847 True gelatinous drop-like corneal dystrophy hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0008777 MONDO:0020212 True gelatinous drop-like corneal dystrophy superficial corneal dystrophy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008783 MONDO:0001822 True Tangier disease hypolipoproteinemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0008783 MONDO:0017773 True Tangier disease hypoalphalipoproteinemia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008786 MONDO:0015194 True pyridoxine-responsive sideroblastic anemia sideroblastic anemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0008787 MONDO:0000104 True microcytic anemia with liver iron overload anemia, hypochromic microcytic with iron overload UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0008787 MONDO:0016624 True microcytic anemia with liver iron overload inherited deficiency anemia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008787 MONDO:0017763 True microcytic anemia with liver iron overload disorder of iron metabolism and transport UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008788 MONDO:0016624 True IRIDA syndrome inherited deficiency anemia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008791 MONDO:0000819 True anencephaly 1 anencephaly UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0008799 MONDO:0016073 True anophthalmia/microphthalmia-esophageal atresia syndrome syndromic microphthalmia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0008791 MONDO:0015159 True anencephaly 1 multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008792 MONDO:0019296 True familial angiolipomatosis subcutaneous tissue disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008795 MONDO:0002254 True aniridia-cerebellar ataxia-intellectual disability syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0008796 MONDO:0015159 True aniridia-renal agenesis-psychomotor retardation syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008797 MONDO:0006999 True anodontia tooth disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0008798 MONDO:0019211 True nonsyndromic congenital nail disorder 4 isolated congenital anonychia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008799 MONDO:0016073 True anophthalmia/microphthalmia-esophageal atresia syndrome syndromic microphthalmia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0008800 MONDO:0006025 True microphthalmia with limb anomalies autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0008803 MONDO:0015338 True Antley-Bixler syndrome syndromic craniosynostosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008806 MONDO:0018234 True Aphalangy-hemivertebrae-urogenital-intestinal dysgenesis syndrome dysostosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008806 MONDO:0019054 True Aphalangy-hemivertebrae-urogenital-intestinal dysgenesis syndrome congenital limb malformation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008808 MONDO:0019175 True aplasia cutis congenita-intestinal lymphangiectasia syndrome primary lymphedema UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008808 MONDO:0019294 True aplasia cutis congenita-intestinal lymphangiectasia syndrome mixed dermis disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008810 MONDO:0001336 True familial apolipoprotein C-II deficiency familial hyperlipidemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0008810 MONDO:0018637 True familial apolipoprotein C-II deficiency familial chylomicronemia syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0008812 MONDO:0019287 True AREDYLD syndrome ectodermal dysplasia syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0008813 MONDO:0020022 True arachnoid cyst central nervous system malformation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008817 MONDO:0018870 True arterial calcification, generalized, of infancy, 1 arterial calcification of infancy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0008822 MONDO:0017123 True arthrogryposis, renal dysfunction, and cholestasis 1 arthrogryposis-renal dysfunction-cholestasis syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0008823 MONDO:0015168 True arthrogryposis multiplex congenita 2, neurogenic type arthrogryposis multiplex congenita UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0008831 MONDO:0018770 True asphyxiating thoracic dystrophy 1 Jeune syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0008822 MONDO:0017123 True arthrogryposis, renal dysfunction, and cholestasis 1 arthrogryposis-renal dysfunction-cholestasis syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0008823 MONDO:0015168 True arthrogryposis multiplex congenita 2, neurogenic type arthrogryposis multiplex congenita UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0008824 MONDO:0002254 True fetal akinesia deformation sequence syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0008825 MONDO:0015168 True arthrogryposis multiplex congenita-whistling face syndrome arthrogryposis multiplex congenita UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0008826 MONDO:0015168 True arthrogryposis-hyperkeratosis syndrome, lethal form arthrogryposis multiplex congenita UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0008828 MONDO:0006025 True camptodactyly-arthropathy-coxa vara-pericarditis syndrome autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0008830 MONDO:0019251 True aspartylglucosaminuria oligosaccharidosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008830 MONDO:0800088 True aspartylglucosaminuria lysosomal storage disease with skeletal involvement UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008831 MONDO:0018770 True asphyxiating thoracic dystrophy 1 Jeune syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0008832 MONDO:0018677 True right atrial isomerism visceral heterotaxy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED MONDO:0008833 MONDO:0017417 True renal-hepatic-pancreatic dysplasia 1 renal-hepatic-pancreatic dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0008840 MONDO:0015131 True ataxia telangiectasia combined immunodeficiency UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0008854 MONDO:0015229 True Bardet-Biedl syndrome 1 Bardet-Biedl syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0008861 MONDO:0018950 True 3-methylcrotonyl-CoA carboxylase 1 deficiency 3-methylcrotonyl-CoA carboxylase deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0008862 MONDO:0018950 True 3-methylcrotonyl-CoA carboxylase 2 deficiency 3-methylcrotonyl-CoA carboxylase deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0008867 MONDO:0006322 True biliary atresia non-neoplastic bile duct disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008869 MONDO:0019342 True Seckel syndrome 1 Seckel syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0008876 MONDO:0002254 True Bloom syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0008838 MONDO:0016612 True ataxia - deafness - intellectual disability syndrome X-linked cerebellar ataxia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008840 MONDO:0005071 True ataxia telangiectasia nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0008840 MONDO:0019852 True ataxia telangiectasia inherited primary ovarian failure UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0008846 MONDO:0004689 True atransferrinemia inborn metal metabolism disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0008846 MONDO:0016624 True atransferrinemia inherited deficiency anemia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008846 MONDO:0017763 True atransferrinemia disorder of iron metabolism and transport UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008847 MONDO:0003847 True atrichia with papular lesions hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0008847 MONDO:0004907 True atrichia with papular lesions alopecia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0008849 MONDO:0018855 True atrophoderma vermiculata keratosis pilaris atrophicans UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED +MONDO:0008853 MONDO:0015161 True Barber-Say syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008853 MONDO:0019287 True Barber-Say syndrome ectodermal dysplasia syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS +MONDO:0008854 MONDO:0015229 True Bardet-Biedl syndrome 1 Bardet-Biedl syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0008855 MONDO:0031520 True MHC class II deficiency familial severe combined immunodeficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0008857 MONDO:0015161 True Beemer-Ertbruggen syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008858 MONDO:0005071 True Behr syndrome nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0008858 MONDO:0006025 True Behr syndrome autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0008861 MONDO:0018950 True 3-methylcrotonyl-CoA carboxylase 1 deficiency 3-methylcrotonyl-CoA carboxylase deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0008862 MONDO:0018950 True 3-methylcrotonyl-CoA carboxylase 2 deficiency 3-methylcrotonyl-CoA carboxylase deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0008863 MONDO:0015905 True sitosterolemia syndromic dyslipidemia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008864 MONDO:0015159 True Biemond syndrome type 2 multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008867 MONDO:0001751 True biliary atresia cholestasis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0008869 MONDO:0019342 True Seckel syndrome 1 Seckel syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0008870 MONDO:0015159 True bird headed-dwarfism, Montreal type multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008871 MONDO:0005516 True microcephalic osteodysplastic primordial dwarfism type I osteochondrodysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0008872 MONDO:0005516 True microcephalic osteodysplastic primordial dwarfism type II osteochondrodysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0008874 MONDO:0015126 True Bangstad syndrome polyendocrinopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008875 MONDO:0015161 True blepharophimosis-ptosis-esotropia-syndactyly-short stature syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008876 MONDO:0002254 True Bloom syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0008876 MONDO:0005570 True Bloom syndrome hematologic disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0008876 MONDO:0006025 True Bloom syndrome autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0008876 MONDO:0015951 True Bloom syndrome hereditary photodermatosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008876 MONDO:0020629 True Bloom syndrome microcephaly, growth restriction and increased sister chromatid exchange UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0008889 MONDO:0005294 True thromboangiitis obliterans peripheral vascular disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0008890 MONDO:0002782 True progressive bulbar palsy cranial nerve palsy UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0008892 MONDO:0015762 True progressive familial intrahepatic cholestasis type 1 progressive familial intrahepatic cholestasis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0008877 MONDO:0019216 True blue diaper syndrome inborn disorder of amino acid transport UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008878 MONDO:0018230 True bone dysplasia, lethal Holmgren type skeletal dysplasia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008879 MONDO:0006025 True Bowen-Conradi syndrome autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0008879 MONDO:0015159 True Bowen-Conradi syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008881 MONDO:0019698 True kyphomelic dysplasia bent bone dysplasia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008884 MONDO:0019287 True oculoosteocutaneous syndrome ectodermal dysplasia syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0008885 MONDO:0002254 True Elsahy-Waters syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0008885 MONDO:0015159 True Elsahy-Waters syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008889 MONDO:0005294 True thromboangiitis obliterans peripheral vascular disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0008891 MONDO:0024257 True riboflavin transporter deficiency hereditary motor neuron disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008892 MONDO:0015762 True progressive familial intrahepatic cholestasis type 1 progressive familial intrahepatic cholestasis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0008893 MONDO:0015159 True C syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008893 MONDO:0015338 True C syndrome syndromic craniosynostosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008894 MONDO:0019280 True cataract-hypertrichosis-intellectual disability syndrome hypertrichosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008894 MONDO:0019287 True cataract-hypertrichosis-intellectual disability syndrome ectodermal dysplasia syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0008895 MONDO:0003847 True hereditary arterial and articular multiple calcification syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0008896 MONDO:0019698 True campomelia, Cumming type bent bone dysplasia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008898 MONDO:0015161 True camptodactyly syndrome, Guadalajara type 1 multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008899 MONDO:0015161 True camptodactyly syndrome, Guadalajara type 2 multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008899 MONDO:0018234 True camptodactyly syndrome, Guadalajara type 2 dysostosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008899 MONDO:0019054 True camptodactyly syndrome, Guadalajara type 2 congenital limb malformation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008900 MONDO:0015159 True camptodactyly with fibrous tissue hyperplasia and skeletal dysplasia multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008900 MONDO:0018234 True camptodactyly with fibrous tissue hyperplasia and skeletal dysplasia dysostosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008901 MONDO:0020120 True Tel Hashomer camptodactyly syndrome skeletal muscle disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008903 MONDO:0000376 True lung cancer respiratory system cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0008903 MONDO:0003274 True lung cancer thoracic cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0008903 MONDO:0021117 True lung cancer lung neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008907 MONDO:0005500 True PMM2-congenital disorder of glycosylation congenital disorder of glycosylation type I UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0008908 MONDO:0005501 True MGAT2-congenital disorder of glycosylation congenital disorder of glycosylation type II UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0008922 MONDO:0018158 True Sengers syndrome mitochondrial DNA depletion syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0008939 MONDO:0002320 True isolated cerebellar hypoplasia/agenesis congenital nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0008944 MONDO:0018772 True Joubert syndrome 1 Joubert syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0008955 MONDO:0008926 True cerebrooculofacioskeletal syndrome 1 COFS syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0008958 MONDO:0001029 True Klippel-Feil syndrome 2, autosomal recessive Klippel-Feil syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0008962 MONDO:0018306 True Griscelli syndrome type 1 Griscelli syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0008965 MONDO:0002254 True CHARGE syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0008966 MONDO:0002254 True Aagenaes syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0008967 MONDO:0018841 True congenital bile acid synthesis defect 4 congenital bile acid synthesis defect UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0008972 MONDO:0015776 True rhizomelic chondrodysplasia punctata type 1 rhizomelic chondrodysplasia punctata UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0008905 MONDO:0015979 True predisposition to invasive fungal disease due to CARD9 deficiency hereditary predisposition to infections UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008907 MONDO:0005500 True PMM2-congenital disorder of glycosylation congenital disorder of glycosylation type I UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0008907 MONDO:0017740 True PMM2-congenital disorder of glycosylation disorder of protein N-glycosylation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008908 MONDO:0005501 True MGAT2-congenital disorder of glycosylation congenital disorder of glycosylation type II UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0008908 MONDO:0015327 True MGAT2-congenital disorder of glycosylation developmental anomaly of metabolic origin UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008908 MONDO:0017740 True MGAT2-congenital disorder of glycosylation disorder of protein N-glycosylation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008910 MONDO:0003847 True carboxypeptidase N deficiency hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0008913 MONDO:0031323 True cardiac valvular defect, developmental cardiac valvular defect UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0008915 MONDO:0003847 True dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0008917 MONDO:0015161 True heart defects-limb shortening syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008918 MONDO:0017716 True carnitine-acylcarnitine translocase deficiency disorder of carnitine cycle and carnitine transport UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008919 MONDO:0017716 True systemic primary carnitine deficiency disease disorder of carnitine cycle and carnitine transport UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008922 MONDO:0016801 True Sengers syndrome mitochondrial substrate carrier disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008922 MONDO:0018117 True Sengers syndrome disorder of phospholipids, sphingolipids and fatty acids biosynthesis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008922 MONDO:0018158 True Sengers syndrome mitochondrial DNA depletion syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0008923 MONDO:0017666 True autosomal recessive palmoplantar keratoderma and congenital alopecia diffuse palmoplantar keratoderma UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008923 MONDO:0019287 True autosomal recessive palmoplantar keratoderma and congenital alopecia ectodermal dysplasia syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED +MONDO:0008926 MONDO:0006025 True COFS syndrome autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0008926 MONDO:0016073 True COFS syndrome syndromic microphthalmia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS +MONDO:0008927 MONDO:0003847 True colobomatous optic disc-macular atrophy-chorioretinopathy syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0008928 MONDO:0100309 True cataract-ataxia-deafness syndrome hereditary ataxia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008931 MONDO:0019054 True Cenani-Lenz syndactyly syndrome congenital limb malformation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008934 MONDO:0019287 True cerebellar ataxia-ectodermal dysplasia syndrome ectodermal dysplasia syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0008935 MONDO:0015770 True cerebellar ataxia-hypogonadism syndrome congenital hypogonadotropic hypogonadism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008938 MONDO:0020046 True early-onset cerebellar ataxia with retained tendon reflexes autosomal recessive degenerative and progressive cerebellar ataxia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008943 MONDO:0020043 True autosomal recessive spinocerebellar ataxia 2 autosomal recessive congenital cerebellar ataxia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008944 MONDO:0018772 True Joubert syndrome 1 Joubert syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0008947 MONDO:0003996 True bilateral striopallidodentate calcinosis basal ganglia disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0008947 MONDO:0015547 True bilateral striopallidodentate calcinosis hereditary dementia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008948 MONDO:0002615 True cerebrotendinous xanthomatosis xanthomatosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0008948 MONDO:0015905 True cerebrotendinous xanthomatosis syndromic dyslipidemia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008948 MONDO:0019046 True cerebrotendinous xanthomatosis leukodystrophy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS +MONDO:0008948 MONDO:0019218 True cerebrotendinous xanthomatosis inborn disorder of bile acid synthesis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008948 MONDO:0019296 True cerebrotendinous xanthomatosis subcutaneous tissue disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008948 MONDO:0020044 True cerebrotendinous xanthomatosis autosomal recessive metabolic cerebellar ataxia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008948 MONDO:0020127 True cerebrotendinous xanthomatosis hereditary peripheral neuropathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008948 MONDO:0020143 True cerebrotendinous xanthomatosis cerebral lipidosis with dementia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0008955 MONDO:0008926 True cerebrooculofacioskeletal syndrome 1 COFS syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0008958 MONDO:0001029 True Klippel-Feil syndrome 2, autosomal recessive Klippel-Feil syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0008961 MONDO:0018995 True Charcot-Marie-Tooth disease type 4A Charcot-Marie-Tooth disease type 4 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0008962 MONDO:0018306 True Griscelli syndrome type 1 Griscelli syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0008963 MONDO:0015541 True Chediak-Higashi syndrome hereditary hemophagocytic lymphohistiocytosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0008963 MONDO:0017305 True Chediak-Higashi syndrome syndromic oculocutaneous albinism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008963 MONDO:0017739 True Chediak-Higashi syndrome disorder of lysosomal-related organelles UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008963 MONDO:0020127 True Chediak-Higashi syndrome hereditary peripheral neuropathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008963 MONDO:0024237 True Chediak-Higashi syndrome inherited neurodegenerative disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008965 MONDO:0002254 True CHARGE syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0008965 MONDO:0015770 True CHARGE syndrome congenital hypogonadotropic hypogonadism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008966 MONDO:0002254 True Aagenaes syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0008966 MONDO:0019175 True Aagenaes syndrome primary lymphedema UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008967 MONDO:0018841 True congenital bile acid synthesis defect 4 congenital bile acid synthesis defect UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0008970 MONDO:0019702 True chondrodysplasia Blomstrand type neonatal osteosclerotic dysplasia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008972 MONDO:0015776 True rhizomelic chondrodysplasia punctata type 1 rhizomelic chondrodysplasia punctata UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0008973 MONDO:0015775 True chondrodysplasia punctata, Toriello type non-rhizomelic chondrodysplasia punctata UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008974 MONDO:0019240 True Greenberg dysplasia sterol biosynthesis disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008974 MONDO:0019701 True Greenberg dysplasia chondrodysplasia punctata UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0008977 MONDO:0005089 True chondrosarcoma sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0008978 MONDO:0002597 True chordoma notochordal tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0008988 MONDO:0015991 True citrullinemia type I citrullinemia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0009003 MONDO:0018852 True achromatopsia 2 achromatopsia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0008978 MONDO:0002597 True chordoma notochordal tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0008980 MONDO:0015770 True ataxia-hypogonadism-choroidal dystrophy syndrome congenital hypogonadotropic hypogonadism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008980 MONDO:0100309 True ataxia-hypogonadism-choroidal dystrophy syndrome hereditary ataxia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0008988 MONDO:0015991 True citrullinemia type I citrullinemia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0008991 MONDO:0015161 True Verloove Vanhorick-Brubakk syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008992 MONDO:0015161 True Juberg-Hayward syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008995 MONDO:0002254 True Yunis-Varon syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0008995 MONDO:0018230 True Yunis-Varon syndrome skeletal dysplasia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008998 MONDO:0016006 True Cockayne syndrome type 3 Cockayne syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008999 MONDO:0003847 True Cohen syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0008999 MONDO:0015134 True Cohen syndrome constitutional neutropenia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008999 MONDO:0015159 True Cohen syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009003 MONDO:0018852 True achromatopsia 2 achromatopsia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0009007 MONDO:0003847 True Jalili syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0009008 MONDO:0003847 True heart defect - tongue hamartoma - polysyndactyly syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0009008 MONDO:0015161 True heart defect - tongue hamartoma - polysyndactyly syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009010 MONDO:0020292 True aortic arch interruption congenital anomaly of the great arteries UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009012 MONDO:0015168 True multiple pterygium-malignant hyperthermia syndrome arthrogryposis multiplex congenita UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0009014 MONDO:0000733 True cornea plana 2 cornea plana UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0009016 MONDO:0002261 True band keratopathy keratopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0009022 MONDO:0002320 True corpus callosum, agenesis of congenital nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009031 MONDO:0002185 True craniodiaphyseal dysplasia hyperostosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0009035 MONDO:0015465 True craniometaphyseal dysplasia, autosomal recessive craniometaphyseal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0009044 MONDO:0002254 True Crigler-Najjar syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0009044 MONDO:0002408 True Crigler-Najjar syndrome hereditary hyperbilirubinemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0009046 MONDO:0002254 True Fraser syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0009047 MONDO:0003150 True cryptorchidism male reproductive system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0009015 MONDO:0002254 True corneal dystrophy-perceptive deafness syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0009015 MONDO:0003847 True corneal dystrophy-perceptive deafness syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0009016 MONDO:0001515 True band keratopathy corneal degeneration UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0009018 MONDO:0020213 True central cloudy dystrophy of François stromal corneal dystrophy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009019 MONDO:0000766 True congenital hereditary endothelial dystrophy of cornea corneal endothelial dystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0009019 MONDO:0003847 True congenital hereditary endothelial dystrophy of cornea hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0009019 MONDO:0020214 True congenital hereditary endothelial dystrophy of cornea posterior corneal dystrophy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009020 MONDO:0020213 True macular corneal dystrophy stromal corneal dystrophy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0009024 MONDO:0015159 True cortical blindness-intellectual disability-polydactyly syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009025 MONDO:0005523 True apparent mineralocorticoid excess steroid inherited metabolic disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0009026 MONDO:0000426 True Costello syndrome autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0009026 MONDO:0015159 True Costello syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009026 MONDO:0020297 True Costello syndrome Noonan syndrome and Noonan-related syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009032 MONDO:0015338 True cranioectodermal dysplasia syndromic craniosynostosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009032 MONDO:0015461 True cranioectodermal dysplasia short rib-polydactyly syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009032 MONDO:0019287 True cranioectodermal dysplasia ectodermal dysplasia syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS +MONDO:0009033 MONDO:0003847 True temtamy syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0009033 MONDO:0015159 True temtamy syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009035 MONDO:0006025 True craniometaphyseal dysplasia, autosomal recessive autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0009035 MONDO:0015465 True craniometaphyseal dysplasia, autosomal recessive craniometaphyseal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0009036 MONDO:0015159 True cardiocranial syndrome, Pfeiffer type multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009036 MONDO:0015338 True cardiocranial syndrome, Pfeiffer type syndromic craniosynostosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009039 MONDO:0015338 True Baller-Gerold syndrome syndromic craniosynostosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009042 MONDO:0015338 True craniotelencephalic dysplasia syndromic craniosynostosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009042 MONDO:0018838 True craniotelencephalic dysplasia lissencephaly spectrum disorders UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0009044 MONDO:0002408 True Crigler-Najjar syndrome hereditary hyperbilirubinemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0009046 MONDO:0002254 True Fraser syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0009046 MONDO:0006025 True Fraser syndrome autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0009046 MONDO:0015161 True Fraser syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009046 MONDO:0020153 True Fraser syndrome cryptophthalmia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0009050 MONDO:0003429 True Cushing disease due to pituitary adenoma functioning pituitary gland adenoma UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0009050 MONDO:0017824 True Cushing disease due to pituitary adenoma familial isolated pituitary adenoma UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0009050 MONDO:0020528 True Cushing disease due to pituitary adenoma ACTH-dependent Cushing syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0009052 MONDO:0019572 True cutis laxa, autosomal recessive, type 1A autosomal recessive cutis laxa type 1 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0009053 MONDO:0017569 True ALDH18A1-related de Barsy syndrome de Barsy syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0009053 MONDO:0100237 True ALDH18A1-related de Barsy syndrome inherited cutis laxa UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0009073 MONDO:0019078 True Ritscher-Schinzel syndrome 1 Ritscher-Schinzel syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0009076 MONDO:0019588 True autosomal recessive nonsyndromic hearing loss 1A hearing loss, autosomal recessive UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0009055 MONDO:0016231 True cutis marmorata telangiectatica congenita capillary malformation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009055 MONDO:0019293 True cutis marmorata telangiectatica congenita skin vascular disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009058 MONDO:0004736 True cystathioninuria inborn disorder of amino acid metabolism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0009058 MONDO:0019222 True cystathioninuria inborn disorder of methionine cycle and sulfur amino acid metabolism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009061 MONDO:0006025 True cystic fibrosis autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0009063 MONDO:0003847 True ventriculomegaly-cystic kidney disease hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0009064 MONDO:0016239 True ocular cystinosis cystinosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009067 MONDO:0015962 True cystinuria inherited renal tubular disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009067 MONDO:0019216 True cystinuria inborn disorder of amino acid transport UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009071 MONDO:0015962 True hereditary renal hypouricemia inherited renal tubular disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009072 MONDO:0002427 True Dandy-Walker syndrome cerebellar disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0009073 MONDO:0019078 True Ritscher-Schinzel syndrome 1 Ritscher-Schinzel syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0009074 MONDO:0015159 True facial dysmorphism-macrocephaly-myopia-Dandy-Walker malformation syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009074 MONDO:0020022 True facial dysmorphism-macrocephaly-myopia-Dandy-Walker malformation syndrome central nervous system malformation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009075 MONDO:0020022 True Dandy-Walker malformation-postaxial polydactyly syndrome central nervous system malformation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009076 MONDO:0019588 True autosomal recessive nonsyndromic hearing loss 1A hearing loss, autosomal recessive UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0009079 MONDO:0002254 True DOORS syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0009079 MONDO:0003847 True DOORS syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0009080 MONDO:0015161 True split hand-foot malformation 1 with sensorineural hearing loss multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009080 MONDO:0018234 True split hand-foot malformation 1 with sensorineural hearing loss dysostosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0009080 MONDO:0019054 True split hand-foot malformation 1 with sensorineural hearing loss congenital limb malformation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009082 MONDO:0002254 True high myopia-sensorineural deafness syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0009082 MONDO:0003847 True high myopia-sensorineural deafness syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0009084 MONDO:0019287 True conductive deafness-ptosis-skeletal anomalies syndrome ectodermal dysplasia syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0009091 MONDO:0013099 True non-acquired combined pituitary hormone deficiency with spine abnormalities combined pituitary hormone deficiencies, genetic form UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0009091 MONDO:0018762 True non-acquired combined pituitary hormone deficiency with spine abnormalities non-acquired combined pituitary hormone deficiency UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009092 MONDO:0006025 True polycystic lipomembranous osteodysplasia with sclerosing leukoencephaly autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0009092 MONDO:0019046 True polycystic lipomembranous osteodysplasia with sclerosing leukoencephaly leukodystrophy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS +MONDO:0009093 MONDO:0019046 True dermatoleukodystrophy leukodystrophy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0009094 MONDO:0021154 True dermochondrocorneal dystrophy dermis disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009095 MONDO:0019287 True dermatoosteolysis, Kirghizian type ectodermal dysplasia syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0009097 MONDO:0019631 True persistent hyperplastic primary vitreous, autosomal recessive persistent hyperplastic primary vitreous UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0009106 MONDO:0002320 True diastematomyelia congenital nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009112 MONDO:0015776 True rhizomelic chondrodysplasia punctata type 2 rhizomelic chondrodysplasia punctata UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0009113 MONDO:0019052 True hemolytic anemia due to diphosphoglycerate mutase deficiency inborn errors of metabolism UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0009113 MONDO:0020585 True hemolytic anemia due to diphosphoglycerate mutase deficiency anemia due to erythrocyte enzyme disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009123 MONDO:0021272 True orthostatic hypotension 1 inherited orthostatic hypotension UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0009126 MONDO:0001045 True duodenal atresia intestinal atresia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0009130 MONDO:0002254 True Dyggve-Melchior-Clausen disease syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0009131 MONDO:0005071 True Riley-Day syndrome nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0009133 MONDO:0002254 True cerebellar ataxia, intellectual disability, and dysequilibrium syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0009134 MONDO:0019403 True congenital dyserythropoietic anemia type 2 congenital dyserythropoietic anemia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0009136 MONDO:0015780 True dyskeratosis congenita, autosomal recessive 1 dyskeratosis congenita UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0009143 MONDO:0016817 True Meier-Gorlin syndrome 1 Meier-Gorlin syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0009099 MONDO:0015962 True nephrogenic diabetes insipidus-intracranial calcification syndrome inherited renal tubular disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009101 MONDO:0003847 True Wolfram syndrome 1 hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0009101 MONDO:0018105 True Wolfram syndrome 1 Wolfram syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0009103 MONDO:0005711 True diaphragmatic hernia 2 congenital diaphragmatic hernia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0009104 MONDO:0006025 True Donnai-Barrow syndrome autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0009105 MONDO:0002254 True trichohepatoenteric syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0009105 MONDO:0003778 True trichohepatoenteric syndrome inborn error of immunity UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0009106 MONDO:0018075 True diastematomyelia neural tube defect UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009107 MONDO:0005516 True diastrophic dysplasia osteochondrodysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0009109 MONDO:0019216 True lysinuric protein intolerance inborn disorder of amino acid transport UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009110 MONDO:0019216 True dicarboxylic aminoaciduria inborn disorder of amino acid transport UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009111 MONDO:0019238 True dihydropyrimidinuria inborn disorder of pyrimidine metabolism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0009112 MONDO:0015776 True rhizomelic chondrodysplasia punctata type 2 rhizomelic chondrodysplasia punctata UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0009113 MONDO:0019052 True hemolytic anemia due to diphosphoglycerate mutase deficiency inborn errors of metabolism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0009114 MONDO:0017706 True congenital sucrase-isomaltase deficiency disorder of carbohydrate transmembrane transport and absorption UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009115 MONDO:0017706 True congenital lactase deficiency disorder of carbohydrate transmembrane transport and absorption UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009121 MONDO:0015161 True von Voss-Cherstvoy syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009123 MONDO:0017759 True orthostatic hypotension 1 disorder of catecholamine synthesis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009123 MONDO:0021272 True orthostatic hypotension 1 inherited orthostatic hypotension UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0009124 MONDO:0015159 True Dubowitz syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009124 MONDO:0019287 True Dubowitz syndrome ectodermal dysplasia syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS +MONDO:0009126 MONDO:0001045 True duodenal atresia intestinal atresia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0009131 MONDO:0005071 True Riley-Day syndrome nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0009133 MONDO:0002254 True cerebellar ataxia, intellectual disability, and dysequilibrium syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0009133 MONDO:0020043 True cerebellar ataxia, intellectual disability, and dysequilibrium autosomal recessive congenital cerebellar ataxia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009134 MONDO:0017749 True congenital dyserythropoietic anemia type 2 disorder of multiple glycosylation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009134 MONDO:0019403 True congenital dyserythropoietic anemia type 2 congenital dyserythropoietic anemia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0009135 MONDO:0020337 True anemia, congenital dyserythropoietic, type 1a congenital dyserythropoietic anemia type 1 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0009136 MONDO:0015780 True dyskeratosis congenita, autosomal recessive 1 dyskeratosis congenita UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0009138 MONDO:0017198 True dysosteosclerosis osteopetrosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009141 MONDO:0015990 True torsion dystonia 2 focal, segmental or multifocal dystonia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009143 MONDO:0016817 True Meier-Gorlin syndrome 1 Meier-Gorlin syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0009144 MONDO:0020289 True Ebstein anomaly congenital tricuspid malformation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009145 MONDO:0017666 True SchC6pf-Schulz-Passarge syndrome diffuse palmoplantar keratoderma UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009146 MONDO:0019287 True ectodermal dysplasia-sensorineural deafness syndrome ectodermal dysplasia syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0009149 MONDO:0019287 True ectodermal dysplasia-intellectual disability-central nervous system malformation syndrome ectodermal dysplasia syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0009150 MONDO:0019287 True hypohidrotic ectodermal dysplasia-hypothyroidism-ciliary dyskinesia syndrome ectodermal dysplasia syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0009151 MONDO:0000358 True cleft lip/palate-ectodermal dysplasia syndrome orofacial cleft UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0009151 MONDO:0019287 True cleft lip/palate-ectodermal dysplasia syndrome ectodermal dysplasia syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS +MONDO:0009151 MONDO:0006025 True cleft lip/palate-ectodermal dysplasia syndrome autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0009151 MONDO:0019287 True cleft lip/palate-ectodermal dysplasia syndrome ectodermal dysplasia syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS +MONDO:0009152 MONDO:0003847 True ectopia lentis 2, isolated, autosomal recessive hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0009152 MONDO:0015998 True ectopia lentis 2, isolated, autosomal recessive isolated ectopia lentis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0009153 MONDO:0003847 True ectopia lentis et pupillae hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0009154 MONDO:0000045 True hypothyroidism, congenital, nongoitrous, 5 hypothyroidism, congenital, nongoitrous UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0009157 MONDO:0016576 True split hand-foot malformation 6 split hand-foot malformation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0009159 MONDO:0020066 True Ehlers-Danlos syndrome, cardiac valvular type Ehlers-Danlos syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0009161 MONDO:0020066 True Ehlers-Danlos syndrome, dermatosparaxis type Ehlers-Danlos syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0009155 MONDO:0018234 True EEM syndrome dysostosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0009155 MONDO:0019287 True EEM syndrome ectodermal dysplasia syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED +MONDO:0009156 MONDO:0019054 True ectrodactyly-polydactyly syndrome congenital limb malformation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009157 MONDO:0016576 True split hand-foot malformation 6 split hand-foot malformation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0009159 MONDO:0020066 True Ehlers-Danlos syndrome, cardiac valvular type Ehlers-Danlos syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0009161 MONDO:0020066 True Ehlers-Danlos syndrome, dermatosparaxis type Ehlers-Danlos syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0009162 MONDO:0006025 True Ellis-van Creveld syndrome autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0009162 MONDO:0018770 True Ellis-van Creveld syndrome Jeune syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0009162 MONDO:0019287 True Ellis-van Creveld syndrome ectodermal dysplasia syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS MONDO:0009165 MONDO:0018866 True Aicardi-Goutieres syndrome 1 Aicardi-Goutieres syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0009166 MONDO:0020135 True pontocerebellar hypoplasia type 4 pontocerebellar hypoplasia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0009175 MONDO:0004830 True eosinophilic fasciitis fasciitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009166 MONDO:0020135 True pontocerebellar hypoplasia type 4 pontocerebellar hypoplasia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0009167 MONDO:0015159 True Bonnemann-Meinecke-Reich syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009168 MONDO:0003847 True Fowler syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0009169 MONDO:0000470 True endocardial fibroelastosis endocardium disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0009173 MONDO:0003847 True congenital enteropathy due to enteropeptidase deficiency hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0009173 MONDO:0004335 True congenital enteropathy due to enteropeptidase deficiency digestive system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0009174 MONDO:0005020 True protein-losing enteropathy intestinal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0009175 MONDO:0020122 True eosinophilic fasciitis acquired idiopathic inflammatory myopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009176 MONDO:0005046 True epidermodysplasia verruciformis immune system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0009177 MONDO:0017612 True late-onset localized junctional epidermolysis bullosa-intellectual disability syndrome junctional epidermolysis bullosa UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0009179 MONDO:0006543 True recessive dystrophic epidermolysis bullosa epidermolysis bullosa dystrophica UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0009180 MONDO:0017612 True junctional epidermolysis bullosa, non-Herlitz type junctional epidermolysis bullosa UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0009181 MONDO:0017610 True epidermolysis bullosa simplex 5B, with muscular dystrophy epidermolysis bullosa simplex UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0009182 MONDO:0017612 True junctional epidermolysis bullosa Herlitz type junctional epidermolysis bullosa UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0009183 MONDO:0017612 True junctional epidermolysis bullosa with pyloric atresia junctional epidermolysis bullosa UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0009189 MONDO:0016648 True multiple epiphyseal dysplasia type 4 multiple epiphyseal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0009192 MONDO:0002254 True Wolcott-Rallison syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0009203 MONDO:0018363 True focal facial dermal dysplasia type III focal facial dermal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0009210 MONDO:0020586 True congenital factor V deficiency factor V deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009212 MONDO:0002247 True congenital factor X deficiency factor X deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009213 MONDO:0019391 True Fanconi anemia complementation group C Fanconi anemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0009214 MONDO:0019391 True Fanconi anemia complementation group D2 Fanconi anemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0009215 MONDO:0019391 True Fanconi anemia complementation group A Fanconi anemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0009223 MONDO:0018555 True hypogonadotropic hypogonadism 23 with or without anosmia hypogonadotropic hypogonadism UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0009226 MONDO:0016068 True fibrochondrogenesis 1 fibrochondrogenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0009181 MONDO:0002254 True epidermolysis bullosa simplex 5B, with muscular dystrophy syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0009181 MONDO:0016198 True epidermolysis bullosa simplex 5B, with muscular dystrophy qualitative or quantitative defects of plectin UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009181 MONDO:0017610 True epidermolysis bullosa simplex 5B, with muscular dystrophy epidermolysis bullosa simplex UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0009182 MONDO:0017612 True junctional epidermolysis bullosa Herlitz type junctional epidermolysis bullosa UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0009183 MONDO:0017612 True junctional epidermolysis bullosa with pyloric atresia junctional epidermolysis bullosa UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0009185 MONDO:0019287 True amelocerebrohypohidrotic syndrome ectodermal dysplasia syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS +MONDO:0009188 MONDO:0015159 True epilepsy-telangiectasia syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009189 MONDO:0016648 True multiple epiphyseal dysplasia type 4 multiple epiphyseal dysplasia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0009192 MONDO:0002254 True Wolcott-Rallison syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0009192 MONDO:0006025 True Wolcott-Rallison syndrome autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0009194 MONDO:0003847 True immunodeficiency 32B hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0009197 MONDO:0020113 True transient erythroblastopenia of childhood primary acquired red cell aplasia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009202 MONDO:0043009 True Thakker-Donnai syndrome hereditary lethal multiple congenital anomalies/dysmorphic syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009203 MONDO:0018363 True focal facial dermal dysplasia type III focal facial dermal dysplasia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0009204 MONDO:0018234 True lethal faciocardiomelic dysplasia dysostosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009204 MONDO:0019054 True lethal faciocardiomelic dysplasia congenital limb malformation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009205 MONDO:0015159 True faciocardiorenal syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009209 MONDO:0015161 True autosomal recessive faciodigitogenital syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009210 MONDO:0021181 True congenital factor V deficiency inherited blood coagulation disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009211 MONDO:0015722 True congenital factor VII deficiency congenital vitamin K-dependent coagulation factors deficiency UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS +MONDO:0009212 MONDO:0015722 True congenital factor X deficiency congenital vitamin K-dependent coagulation factors deficiency UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS +MONDO:0009213 MONDO:0019391 True Fanconi anemia complementation group C Fanconi anemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0009214 MONDO:0019391 True Fanconi anemia complementation group D2 Fanconi anemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0009215 MONDO:0019391 True Fanconi anemia complementation group A Fanconi anemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0009216 MONDO:0002412 True glycogen storage disease due to GLUT2 deficiency disorder of glycogen metabolism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0009217 MONDO:0002254 True Fanconi-like syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0009221 MONDO:0018234 True femur-fibula-ulna complex dysostosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009221 MONDO:0019054 True femur-fibula-ulna complex congenital limb malformation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009222 MONDO:0018234 True Gollop-Wolfgang complex dysostosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009222 MONDO:0019054 True Gollop-Wolfgang complex congenital limb malformation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009223 MONDO:0018555 True hypogonadotropic hypogonadism 23 with or without anosmia hypogonadotropic hypogonadism UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0009223 MONDO:0019155 True hypogonadotropic hypogonadism 23 with or without anosmia Leydig cell hypoplasia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0009224 MONDO:0016555 True fetal iodine syndrome transient congenital hypothyroidism due to maternal factor UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009224 MONDO:0016677 True fetal iodine syndrome toxic or drug-related embryofetopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009226 MONDO:0016068 True fibrochondrogenesis 1 fibrochondrogenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED MONDO:0009227 MONDO:0016824 True myofibromatosis, infantile, 1 infantile myofibromatosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0009231 MONDO:0019696 True acromesomelic dysplasia 2B acromesomelic dysplasia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0009237 MONDO:0005043 True focal epithelial hyperplasia hyperplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009239 MONDO:0018555 True hypogonadotropic hypogonadism 24 without anosmia hypogonadotropic hypogonadism UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0009253 MONDO:0002254 True Fryns syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009255 MONDO:0018116 True galactokinase deficiency galactosemia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0009257 MONDO:0018116 True galactose epimerase deficiency galactosemia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0009258 MONDO:0018116 True classic galactosemia galactosemia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0009269 MONDO:0000127 True geleophysic dysplasia 1 geleophysic dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0009228 MONDO:0015161 True gingival fibromatosis-facial dysmorphism syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009229 MONDO:0019707 True hyaline fibromatosis syndrome primary osteolysis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009231 MONDO:0006025 True acromesomelic dysplasia 2B autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0009231 MONDO:0018234 True acromesomelic dysplasia 2B dysostosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0009231 MONDO:0019054 True acromesomelic dysplasia 2B congenital limb malformation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009231 MONDO:0019696 True acromesomelic dysplasia 2B acromesomelic dysplasia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0009232 MONDO:0018234 True Fuhrmann syndrome dysostosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0009232 MONDO:0019054 True Fuhrmann syndrome congenital limb malformation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009233 MONDO:0015161 True Fibulo-ulnar hypoplasia-renal anomalies syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009234 MONDO:0021181 True congenital high-molecular-weight kininogen deficiency inherited blood coagulation disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009235 MONDO:0019118 True familial benign flecked retina inherited retinal dystrophy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0009237 MONDO:0005108 True focal epithelial hyperplasia viral infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0009238 MONDO:0016624 True hereditary folate malabsorption inherited deficiency anemia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009238 MONDO:0017313 True hereditary folate malabsorption disorder of folate metabolism and transport UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009239 MONDO:0018555 True hypogonadotropic hypogonadism 24 without anosmia hypogonadotropic hypogonadism UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0009240 MONDO:0016624 True formiminoglutamic aciduria inherited deficiency anemia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009240 MONDO:0017313 True formiminoglutamic aciduria disorder of folate metabolism and transport UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009241 MONDO:0015159 True fountain syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009242 MONDO:0000942 True brittle cornea syndrome corneal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0009242 MONDO:0006025 True brittle cornea syndrome autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0009242 MONDO:0020066 True brittle cornea syndrome Ehlers-Danlos syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED +MONDO:0009247 MONDO:0015161 True frontofacionasal dysplasia multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009247 MONDO:0016643 True frontofacionasal dysplasia frontonasal dysplasia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0009249 MONDO:0017689 True hereditary fructose intolerance disorder of fructose metabolism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009251 MONDO:0019225 True fructose-1,6-bisphosphatase deficiency disorder of gluconeogenesis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009252 MONDO:0017689 True essential fructosuria disorder of fructose metabolism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009253 MONDO:0015159 True Fryns syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009254 MONDO:0019251 True fucosidosis oligosaccharidosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009254 MONDO:0800088 True fucosidosis lysosomal storage disease with skeletal involvement UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009255 MONDO:0018116 True galactokinase deficiency galactosemia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0009257 MONDO:0018116 True galactose epimerase deficiency galactosemia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0009258 MONDO:0018116 True classic galactosemia galactosemia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0009258 MONDO:0019852 True classic galactosemia inherited primary ovarian failure UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0009260 MONDO:0018149 True GM1 gangliosidosis type 1 GM1 gangliosidosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0009260 MONDO:0800088 True GM1 gangliosidosis type 1 lysosomal storage disease with skeletal involvement UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009261 MONDO:0018149 True GM1 gangliosidosis type 2 GM1 gangliosidosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0009262 MONDO:0018149 True GM1 gangliosidosis type 3 GM1 gangliosidosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0009263 MONDO:0015159 True GAPO syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009263 MONDO:0019287 True GAPO syndrome ectodermal dysplasia syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS +MONDO:0009265 MONDO:0016340 True Gaucher disease type I familial restrictive cardiomyopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0009265 MONDO:0018150 True Gaucher disease type I Gaucher disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0009265 MONDO:0018374 True Gaucher disease type I secondary avascular necrosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009265 MONDO:0018383 True Gaucher disease type I osteonecrosis of genetic origin UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009265 MONDO:0020143 True Gaucher disease type I cerebral lipidosis with dementia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0009266 MONDO:0018150 True Gaucher disease type II Gaucher disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0009267 MONDO:0018150 True Gaucher disease type III Gaucher disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0009268 MONDO:0018150 True Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome Gaucher disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0009269 MONDO:0000127 True geleophysic dysplasia 1 geleophysic dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0009270 MONDO:0015161 True genito-palato-cardiac syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009272 MONDO:0019175 True German syndrome primary lymphedema UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009274 MONDO:0018230 True ghosal hematodiaphyseal dysplasia skeletal dysplasia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009276 MONDO:0000009 True Bernard-Soulier syndrome inherited bleeding disorder, platelet-type UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0009276 MONDO:0002254 True Bernard-Soulier syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0009290 MONDO:0002412 True glycogen storage disease II disorder of glycogen metabolism UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS -MONDO:0009291 MONDO:0002412 True glycogen storage disease III disorder of glycogen metabolism UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS -MONDO:0009292 MONDO:0002412 True glycogen storage disease due to glycogen branching enzyme deficiency disorder of glycogen metabolism UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS -MONDO:0009293 MONDO:0002412 True glycogen storage disease V disorder of glycogen metabolism UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS -MONDO:0009294 MONDO:0002412 True glycogen storage disease VI disorder of glycogen metabolism UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS -MONDO:0009295 MONDO:0002412 True glycogen storage disease VII disorder of glycogen metabolism UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS -MONDO:0009299 MONDO:0001967 True 46 XX gonadal dysgenesis gonadal dysgenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0009300 MONDO:0017312 True Perrault syndrome 1 Perrault syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0009301 MONDO:0010765 True 46,XY sex reversal 7 46,XY complete gonadal dysgenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0009303 MONDO:0007179 True anti-glomerular basement membrane disease autoimmune disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS -MONDO:0009308 MONDO:0018305 True granulomatous disease, chronic, autosomal recessive, cytochrome b-negative chronic granulomatous disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0009309 MONDO:0018305 True granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 1 chronic granulomatous disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0009310 MONDO:0018305 True granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 chronic granulomatous disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0009315 MONDO:0002242 True congenital factor XII deficiency coagulation protein disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009319 MONDO:0018307 True pantothenate kinase-associated neurodegeneration neurodegeneration with brain iron accumulation UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0009329 MONDO:0009937 True pulmonary venoocclusive disease 2 pulmonary venoocclusive disease UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0009279 MONDO:0002254 True triple-A syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0009279 MONDO:0006025 True triple-A syndrome autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0009279 MONDO:0015129 True triple-A syndrome chronic primary adrenal insufficiency UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS +MONDO:0009281 MONDO:0000688 True glutaryl-CoA dehydrogenase deficiency inborn organic aciduria UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0009282 MONDO:0017714 True multiple acyl-CoA dehydrogenase deficiency acyl-CoA dehydrogenase deficiency UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009284 MONDO:0017909 True glutathione synthetase deficiency without 5-oxoprolinuria inherited glutathione synthetase deficiency UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0009287 MONDO:0002413 True glycogen storage disease due to glucose-6-phosphatase deficiency type IA glycogen storage disease I UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0009288 MONDO:0015134 True glycogen storage disease Ib constitutional neutropenia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009290 MONDO:0002412 True glycogen storage disease II disorder of glycogen metabolism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0009290 MONDO:0016340 True glycogen storage disease II familial restrictive cardiomyopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0009290 MONDO:0017738 True glycogen storage disease II lysosomal glycogen storage disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009291 MONDO:0002412 True glycogen storage disease III disorder of glycogen metabolism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0009292 MONDO:0002412 True glycogen storage disease due to glycogen branching enzyme deficiency disorder of glycogen metabolism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0009293 MONDO:0002412 True glycogen storage disease V disorder of glycogen metabolism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0009294 MONDO:0002412 True glycogen storage disease VI disorder of glycogen metabolism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0009295 MONDO:0002412 True glycogen storage disease VII disorder of glycogen metabolism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0009297 MONDO:0006510 True familial renal glucosuria renal tubular transport disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0009297 MONDO:0019226 True familial renal glucosuria glucose transport disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009299 MONDO:0001967 True 46 XX gonadal dysgenesis gonadal dysgenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0009299 MONDO:0019852 True 46 XX gonadal dysgenesis inherited primary ovarian failure UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0009300 MONDO:0017312 True Perrault syndrome 1 Perrault syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0009301 MONDO:0010765 True 46,XY sex reversal 7 46,XY complete gonadal dysgenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0009302 MONDO:0020040 True XY type gonadal dysgenesis-associated anomalies syndrome 46,XY disorder of sex development UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009303 MONDO:0007179 True anti-glomerular basement membrane disease autoimmune disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED +MONDO:0009305 MONDO:0003847 True granulocytopenia with immunoglobulin abnormality hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0009308 MONDO:0018305 True granulomatous disease, chronic, autosomal recessive, cytochrome b-negative chronic granulomatous disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0009309 MONDO:0018305 True granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 1 chronic granulomatous disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0009310 MONDO:0018305 True granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 chronic granulomatous disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0009312 MONDO:0020087 True lipodystrophy due to peptidic growth factors deficiency hereditary lipodystrophy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009315 MONDO:0000429 True congenital factor XII deficiency autosomal genetic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0009315 MONDO:0021181 True congenital factor XII deficiency inherited blood coagulation disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009318 MONDO:0019303 True Hallermann-Streiff syndrome premature aging syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009319 MONDO:0016987 True pantothenate kinase-associated neurodegeneration neuroacanthocytosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0009319 MONDO:0018117 True pantothenate kinase-associated neurodegeneration disorder of phospholipids, sphingolipids and fatty acids biosynthesis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009319 MONDO:0018307 True pantothenate kinase-associated neurodegeneration neurodegeneration with brain iron accumulation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0009320 MONDO:0015159 True Hall-Riggs syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009321 MONDO:0019054 True hallux varus-preaxial polysyndactyly syndrome congenital limb malformation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009324 MONDO:0019216 True Hartnup disease inborn disorder of amino acid transport UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009326 MONDO:0000465 True congenital heart block atrioventricular block UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0009329 MONDO:0009937 True pulmonary venoocclusive disease 2 pulmonary venoocclusive disease UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED MONDO:0009330 MONDO:0005094 True hemangiopericytoma, malignant hemangiopericytoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009332 MONDO:0005570 True congenital hematological disorder hematologic disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009331 MONDO:0019716 True isolated hemihyperplasia overgrowth syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009333 MONDO:0019175 True mullerian derivatives-lymphangiectasia-polydactyly syndrome primary lymphedema UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009337 MONDO:0016256 True Hennekam lymphangiectasia-lymphedema syndrome 1 Hennekam syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0009339 MONDO:0018841 True congenital bile acid synthesis defect 2 congenital bile acid synthesis defect UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0009348 MONDO:0004952 True classic Hodgkin lymphoma Hodgkins lymphoma UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009349 MONDO:0016296 True holoprosencephaly 1 holoprosencephaly UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0009338 MONDO:0003778 True hepatic veno-occlusive disease-immunodeficiency syndrome inborn error of immunity UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0009339 MONDO:0018841 True congenital bile acid synthesis defect 2 congenital bile acid synthesis defect UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0009341 MONDO:0015159 True Mowat-Wilson syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009341 MONDO:0015653 True Mowat-Wilson syndrome monogenic epilepsy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009342 MONDO:0015161 True Hirschsprung disease-hearing loss-polydactyly syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009345 MONDO:0019228 True histidinemia inborn disorder of histidine metabolism UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0009348 MONDO:0004952 True classic Hodgkin lymphoma Hodgkins lymphoma UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009349 MONDO:0016296 True holoprosencephaly 1 holoprosencephaly UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0009350 MONDO:0002254 True Holzgreve-Wagner-Rehder syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0009350 MONDO:0015161 True Holzgreve-Wagner-Rehder syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009351 MONDO:0000698 True homocarnosinosis gamma-amino butyric acid metabolism disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0009352 MONDO:0015327 True classic homocystinuria developmental anomaly of metabolic origin UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009353 MONDO:0017313 True homocystinuria due to methylene tetrahydrofolate reductase deficiency disorder of folate metabolism and transport UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009353 MONDO:0020127 True homocystinuria due to methylene tetrahydrofolate reductase deficiency hereditary peripheral neuropathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009354 MONDO:0018964 True methylcobalamin deficiency type cblE homocystinuria without methylmalonic aciduria UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009359 MONDO:0002254 True multinucleated neurons-anhydramnios-renal dysplasia-cerebellar hypoplasia-hydranencephaly syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0009359 MONDO:0006025 True multinucleated neurons-anhydramnios-renal dysplasia-cerebellar hypoplasia-hydranencephaly syndrome autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0009359 MONDO:0043009 True multinucleated neurons-anhydramnios-renal dysplasia-cerebellar hypoplasia-hydranencephaly syndrome hereditary lethal multiple congenital anomalies/dysmorphic syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009360 MONDO:0016349 True hydrocephalus, nonsyndromic, autosomal recessive 1 congenital hydrocephalus UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0009363 MONDO:0015161 True hydrocephaly-tall stature-joint laxity syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009364 MONDO:0000171 True muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 muscular dystrophy-dystroglycanopathy, type A UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0009365 MONDO:0006037 True hydrolethalus syndrome 1 hydrolethalus syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0009365 MONDO:0006037 True hydrolethalus syndrome 1 hydrolethalus syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0009366 MONDO:0002045 True normal pressure hydrocephalus communicating hydrocephalus UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0009367 MONDO:0003847 True McKusick-Kaufman syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0009367 MONDO:0015161 True McKusick-Kaufman syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009368 MONDO:0000463 True urofacial syndrome type 1 Ochoa syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0009369 MONDO:0015193 True non-immune hydrops fetalis hydrops fetalis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009369 MONDO:0015193 True non-immune hydrops fetalis hydrops fetalis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009370 MONDO:0016001 True L-2-hydroxyglutaric aciduria 2-hydroxyglutaric aciduria UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0009371 MONDO:0019215 True 3-hydroxyisobutyric aciduria classic organic aciduria UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009372 MONDO:0017350 True encephalopathy due to hydroxykynureninuria inborn disorder of tryptophan metabolism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009373 MONDO:0017351 True seizures-intellectual disability due to hydroxylysinuria syndrome inborn disorder of lysine and hydroxylysine metabolism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009378 MONDO:0019238 True hyper-beta-alaninemia inborn disorder of pyrimidine metabolism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009379 MONDO:0002408 True Rotor syndrome hereditary hyperbilirubinemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0009380 MONDO:0002254 True Dubin-Johnson syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0009380 MONDO:0002408 True Dubin-Johnson syndrome hereditary hyperbilirubinemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0009380 MONDO:0002408 True Dubin-Johnson syndrome hereditary hyperbilirubinemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED MONDO:0009383 MONDO:0002408 True transient familial neonatal hyperbilirubinemia hereditary hyperbilirubinemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0009387 MONDO:0037748 True familial lipoprotein lipase deficiency hyperlipoproteinemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009393 MONDO:0002254 True ornithine translocase deficiency syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0009394 MONDO:0005382 True juvenile Paget disease bone Paget disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0009395 MONDO:0002185 True hyperostosis corticalis generalisata hyperostosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0009387 MONDO:0001336 True familial lipoprotein lipase deficiency familial hyperlipidemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0009387 MONDO:0018637 True familial lipoprotein lipase deficiency familial chylomicronemia syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0009388 MONDO:0004736 True hyperlysinemia inborn disorder of amino acid metabolism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0009388 MONDO:0017351 True hyperlysinemia inborn disorder of lysine and hydroxylysine metabolism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009394 MONDO:0005382 True juvenile Paget disease bone Paget disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0009395 MONDO:0002185 True hyperostosis corticalis generalisata hyperostosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0009395 MONDO:0018230 True hyperostosis corticalis generalisata skeletal dysplasia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009398 MONDO:0016596 True hyperphosphatasia with intellectual disability syndrome 1 hyperphosphatasia-intellectual disability syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0009411 MONDO:0017278 True autoimmune polyendocrine syndrome type 1 autoimmune polyendocrinopathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0009412 MONDO:0024298 True scurvy vitamin deficiency disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009413 MONDO:0015517 True immunodeficiency, common variable, 2 common variable immunodeficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0009424 MONDO:0015231 True Bartter disease type 2 Bartter syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0009426 MONDO:0002254 True hypoparathyroidism-retardation-dysmorphism syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0009400 MONDO:0023419 True hyperprolinemia type 1 hyperprolinemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0009401 MONDO:0023419 True hyperprolinemia type 2 hyperprolinemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0009402 MONDO:0015161 True acrofrontofacionasal dysostosis 2 multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009404 MONDO:0006025 True hypertelorism, microtia, facial clefting syndrome autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0009404 MONDO:0015159 True hypertelorism, microtia, facial clefting syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009405 MONDO:0019280 True cervical hypertrichosis-peripheral neuropathy syndrome hypertrichosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009405 MONDO:0020022 True cervical hypertrichosis-peripheral neuropathy syndrome central nervous system malformation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009406 MONDO:0005516 True hypertrichotic osteochondrodysplasia Cantu type osteochondrodysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0009411 MONDO:0016165 True autoimmune polyendocrine syndrome type 1 hereditary hypoparathyroidism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009411 MONDO:0017278 True autoimmune polyendocrine syndrome type 1 autoimmune polyendocrinopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0009413 MONDO:0015517 True immunodeficiency, common variable, 2 common variable immunodeficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0009414 MONDO:0002412 True glycogen storage disorder due to hepatic glycogen synthase deficiency disorder of glycogen metabolism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0009415 MONDO:0003847 True hypoglycemia, leucine-induced hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0009416 MONDO:0003847 True hypoinsulinemic hypoglycemia and body hemihypertrophy hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0009416 MONDO:0019716 True hypoinsulinemic hypoglycemia and body hemihypertrophy overgrowth syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009419 MONDO:0015770 True Woodhouse-Sakati syndrome congenital hypogonadotropic hypogonadism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009419 MONDO:0018307 True Woodhouse-Sakati syndrome neurodegeneration with brain iron accumulation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS +MONDO:0009419 MONDO:0044807 True Woodhouse-Sakati syndrome inherited dystonia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0009424 MONDO:0015231 True Bartter disease type 2 Bartter syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0009426 MONDO:0002254 True hypoparathyroidism-retardation-dysmorphism syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0009426 MONDO:0006025 True hypoparathyroidism-retardation-dysmorphism syndrome autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0009426 MONDO:0015159 True hypoparathyroidism-retardation-dysmorphism syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009431 MONDO:0000044 True hereditary hypophosphatemic rickets with hypercalciuria hereditary hypophosphatemic rickets UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0009433 MONDO:0004933 True hypoplastic left heart syndrome 1 hypoplastic left heart syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0009434 MONDO:0021094 True hypoproteinemia, hypercatabolic immunodeficiency disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0009435 MONDO:0015159 True hypospadias-intellectual disability, Goldblatt type syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009437 MONDO:0005151 True Bamforth-Lazarus syndrome endocrine system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0009440 MONDO:0018781 True ichthyosiform erythroderma, corneal involvement, and hearing loss KID syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0009441 MONDO:0017265 True autosomal recessive congenital ichthyosis 1 autosomal recessive congenital ichthyosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0009452 MONDO:0002254 True Vici syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0009454 MONDO:0000133 True immunodeficiency-centromeric instability-facial anomalies syndrome 1 immunodeficiency-centromeric instability-facial anomalies syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0009461 MONDO:0004983 True spermatogenic failure 5 spermatogenic failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0009469 MONDO:0019008 True benign recurrent intrahepatic cholestasis type 1 benign recurrent intrahepatic cholestasis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0009470 MONDO:0017579 True Baraitser-Winter syndrome 1 Baraitser-Winter cerebrofrontofacial syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0009478 MONDO:0018037 True combined immunodeficiency due to DOCK8 deficiency hyper-IgE syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0009484 MONDO:0016575 True primary ciliary dyskinesia 1 primary ciliary dyskinesia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0009486 MONDO:0016516 True autosomal recessive Kenny-Caffey syndrome Kenny-Caffey syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0009499 MONDO:0019046 True Krabbe disease leukodystrophy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS -MONDO:0009499 MONDO:0019255 True Krabbe disease sphingolipidosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0009502 MONDO:0019169 True pyruvate dehydrogenase E2 deficiency pyruvate dehydrogenase deficiency UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0009503 MONDO:0019169 True pyruvate dehydrogenase E3-binding protein deficiency pyruvate dehydrogenase deficiency UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0009509 MONDO:0002254 True Landau-Kleffner syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0009514 MONDO:0002254 True Laurence-Moon syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0009517 MONDO:0002254 True Donohue syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0009525 MONDO:0016576 True split hand-foot malformation 3 split hand-foot malformation UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0009441 MONDO:0017265 True autosomal recessive congenital ichthyosis 1 autosomal recessive congenital ichthyosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0009444 MONDO:0019287 True ichthyosis-alopecia-eclabion-ectropion-intellectual disability syndrome ectodermal dysplasia syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0009445 MONDO:0100309 True ichthyosis-hepatosplenomegaly-cerebellar degeneration syndrome hereditary ataxia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009448 MONDO:0019216 True iminoglycinuria inborn disorder of amino acid transport UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009451 MONDO:0001222 True Nezelof syndrome congenital T-cell immunodeficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0009452 MONDO:0002254 True Vici syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0009452 MONDO:0006025 True Vici syndrome autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0009452 MONDO:0015161 True Vici syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009454 MONDO:0000133 True immunodeficiency-centromeric instability-facial anomalies syndrome 1 immunodeficiency-centromeric instability-facial anomalies syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0009458 MONDO:0015708 True Schimke immuno-osseous dysplasia immuno-osseous dysplasia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009461 MONDO:0004983 True spermatogenic failure 5 spermatogenic failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0009461 MONDO:0018394 True spermatogenic failure 5 male infertility with teratozoospermia due to single gene mutation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009465 MONDO:0006025 True multiple intestinal atresia autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0009468 MONDO:0006810 True pseudotumor cerebri intracranial hypertension UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0009469 MONDO:0019008 True benign recurrent intrahepatic cholestasis type 1 benign recurrent intrahepatic cholestasis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0009470 MONDO:0017579 True Baraitser-Winter syndrome 1 Baraitser-Winter cerebrofrontofacial syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0009475 MONDO:0019215 True isovaleric acidemia classic organic aciduria UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009477 MONDO:0015159 True Stromme syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009477 MONDO:0016575 True Stromme syndrome primary ciliary dyskinesia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED +MONDO:0009477 MONDO:0043009 True Stromme syndrome hereditary lethal multiple congenital anomalies/dysmorphic syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009478 MONDO:0018037 True combined immunodeficiency due to DOCK8 deficiency hyper-IgE syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0009479 MONDO:0006025 True Johanson-Blizzard syndrome autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0009479 MONDO:0015159 True Johanson-Blizzard syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009480 MONDO:0015369 True Joubert syndrome with oculorenal defect Joubert syndrome and related disorders UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009480 MONDO:0020022 True Joubert syndrome with oculorenal defect central nervous system malformation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009483 MONDO:0015159 True Kapur-Toriello syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009484 MONDO:0016575 True primary ciliary dyskinesia 1 primary ciliary dyskinesia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0009485 MONDO:0003847 True oculocerebrofacial syndrome, Kaufman type hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0009485 MONDO:0015159 True oculocerebrofacial syndrome, Kaufman type multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009486 MONDO:0006025 True autosomal recessive Kenny-Caffey syndrome autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0009486 MONDO:0016516 True autosomal recessive Kenny-Caffey syndrome Kenny-Caffey syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0009489 MONDO:0017666 True hereditary palmoplantar keratoderma, Gamborg-Nielsen type diffuse palmoplantar keratoderma UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009490 MONDO:0006025 True Papillon-Lefevre disease autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0009490 MONDO:0015978 True Papillon-Lefevre disease functional neutrophil defect UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009490 MONDO:0017666 True Papillon-Lefevre disease diffuse palmoplantar keratoderma UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009490 MONDO:0017739 True Papillon-Lefevre disease disorder of lysosomal-related organelles UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009491 MONDO:0017666 True Haim-Munk syndrome diffuse palmoplantar keratoderma UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009491 MONDO:0017739 True Haim-Munk syndrome disorder of lysosomal-related organelles UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009492 MONDO:0019229 True succinyl-CoA:3-ketoacid CoA transferase deficiency inborn disorder of ketolysis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009493 MONDO:0100309 True Richards-Rundle syndrome hereditary ataxia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009495 MONDO:0015159 True Keutel syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009495 MONDO:0019701 True Keutel syndrome chondrodysplasia punctata UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009498 MONDO:0018230 True lethal Kniest-like dysplasia skeletal dysplasia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009499 MONDO:0019046 True Krabbe disease leukodystrophy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS +MONDO:0009499 MONDO:0019255 True Krabbe disease sphingolipidosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0009501 MONDO:0020123 True metabolic myopathy due to lactate transporter defect metabolic myopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009502 MONDO:0019169 True pyruvate dehydrogenase E2 deficiency pyruvate dehydrogenase deficiency UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0009503 MONDO:0019169 True pyruvate dehydrogenase E3-binding protein deficiency pyruvate dehydrogenase deficiency UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0009504 MONDO:0016796 True mitochondrial DNA depletion syndrome 9 mitochondrial DNA depletion syndrome, encephalomyopathic form UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009506 MONDO:0015978 True specific granule deficiency functional neutrophil defect UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009507 MONDO:0015159 True Lambert syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009509 MONDO:0000414 True Landau-Kleffner syndrome childhood electroclinical syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0009509 MONDO:0020072 True Landau-Kleffner syndrome childhood-onset epilepsy syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009511 MONDO:0015286 True Larsen-like syndrome, B3GAT3 type congenital disorder of glycosylation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0009511 MONDO:0015327 True Larsen-like syndrome, B3GAT3 type developmental anomaly of metabolic origin UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009511 MONDO:0018230 True Larsen-like syndrome, B3GAT3 type skeletal dysplasia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009512 MONDO:0019755 True lethal Larsen-like syndrome developmental defect during embryogenesis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009513 MONDO:0017612 True laryngo-onycho-cutaneous syndrome junctional epidermolysis bullosa UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0009514 MONDO:0002254 True Laurence-Moon syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0009514 MONDO:0006025 True Laurence-Moon syndrome autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0009514 MONDO:0015159 True Laurence-Moon syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009514 MONDO:0015770 True Laurence-Moon syndrome congenital hypogonadotropic hypogonadism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009515 MONDO:0001822 True Norum disease hypolipoproteinemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0009515 MONDO:0018999 True Norum disease LCAT deficiency UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009516 MONDO:0018234 True absence deformity of leg-cataract syndrome dysostosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009516 MONDO:0019054 True absence deformity of leg-cataract syndrome congenital limb malformation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009517 MONDO:0002254 True Donohue syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0009517 MONDO:0006025 True Donohue syndrome autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0009517 MONDO:0015161 True Donohue syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009520 MONDO:0017713 True 3-hydroxy-3-methylglutaric aciduria disorder of fatty acid oxidation and ketogenesis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009520 MONDO:0019215 True 3-hydroxy-3-methylglutaric aciduria classic organic aciduria UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009522 MONDO:0019287 True Leukomelanoderma-infantilism-intellectual disability-hypodontia-hypotrichosis syndrome ectodermal dysplasia syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0009523 MONDO:0015134 True Lichtenstein syndrome constitutional neutropenia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009524 MONDO:0015159 True intellectual disability-spasticity-ectrodactyly syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009524 MONDO:0018234 True intellectual disability-spasticity-ectrodactyly syndrome dysostosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009524 MONDO:0019054 True intellectual disability-spasticity-ectrodactyly syndrome congenital limb malformation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009525 MONDO:0016576 True split hand-foot malformation 3 split hand-foot malformation UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0009525 MONDO:0016961 True split hand-foot malformation 3 partial duplication of the long arm of chromosome 10 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009527 MONDO:0006025 True lipase deficiency, combined autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0009527 MONDO:0018637 True lipase deficiency, combined familial chylomicronemia syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0009528 MONDO:0017774 True chylomicron retention disease hypobetalipoproteinemia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0009529 MONDO:0009563 True pyruvate dehydrogenase E3 deficiency maple syrup urine disease UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0009532 MONDO:0002254 True Miller-Dieker lissencephaly syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0009537 MONDO:0002429 True lymphoid interstitial pneumonia idiopathic interstitial pneumonia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0009554 MONDO:0017398 True 3MC syndrome 3 3MC syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0009557 MONDO:0016584 True mandibuloacral dysplasia with type A lipodystrophy mandibuloacral dysplasia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0009558 MONDO:0002457 True Treacher Collins syndrome 3 Treacher-Collins syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0009568 MONDO:0019064 True mast syndrome hereditary spastic paraplegia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0009571 MONDO:0018921 True Meckel syndrome, type 1 Meckel syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0009529 MONDO:0018424 True pyruvate dehydrogenase E3 deficiency inherited lipoic acid biosynthesis defect UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009529 MONDO:0019169 True pyruvate dehydrogenase E3 deficiency pyruvate dehydrogenase deficiency UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0009530 MONDO:0002525 True lipoid proteinosis inherited lipid metabolism disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0009530 MONDO:0021154 True lipoid proteinosis dermis disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009532 MONDO:0002254 True Miller-Dieker lissencephaly syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0009532 MONDO:0015146 True Miller-Dieker lissencephaly syndrome classic lissencephaly UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009532 MONDO:0022754 True Miller-Dieker lissencephaly syndrome chromosome 17p deletion UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009533 MONDO:0015161 True Dahlberg-Borer-Newcomer syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009533 MONDO:0019287 True Dahlberg-Borer-Newcomer syndrome ectodermal dysplasia syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0009537 MONDO:0002429 True lymphoid interstitial pneumonia idiopathic interstitial pneumonia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0009543 MONDO:0015159 True prominent glabella-microcephaly-hypogenitalism syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009548 MONDO:0017624 True renal hypomagnesemia 5 with ocular involvement familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009550 MONDO:0017624 True renal hypomagnesemia 3 familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009552 MONDO:0017666 True mal de Meleda diffuse palmoplantar keratoderma UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009554 MONDO:0017398 True 3MC syndrome 3 3MC syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0009557 MONDO:0016584 True mandibuloacral dysplasia with type A lipodystrophy mandibuloacral dysplasia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0009557 MONDO:0021106 True mandibuloacral dysplasia with type A lipodystrophy laminopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009558 MONDO:0002457 True Treacher Collins syndrome 3 Treacher-Collins syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0009561 MONDO:0019251 True alpha-mannosidosis oligosaccharidosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009561 MONDO:0800088 True alpha-mannosidosis lysosomal storage disease with skeletal involvement UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009562 MONDO:0019251 True beta-mannosidosis oligosaccharidosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009562 MONDO:0020127 True beta-mannosidosis hereditary peripheral neuropathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009562 MONDO:0800088 True beta-mannosidosis lysosomal storage disease with skeletal involvement UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009563 MONDO:0000688 True maple syrup urine disease inborn organic aciduria UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0009563 MONDO:0019242 True maple syrup urine disease inborn disorder of branched-chain amino acid metabolism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009564 MONDO:0015159 True Marden-Walker syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009564 MONDO:0015168 True Marden-Walker syndrome arthrogryposis multiplex congenita UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0009565 MONDO:0015159 True microcephaly-glomerulonephritis-marfanoid habitus syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009566 MONDO:0015159 True marfanoid habitus-autosomal recessive intellectual disability syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009567 MONDO:0002254 True Marinesco-Sjogren syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0009567 MONDO:0020046 True Marinesco-Sjogren syndrome autosomal recessive degenerative and progressive cerebellar ataxia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009568 MONDO:0019064 True mast syndrome hereditary spastic paraplegia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0009570 MONDO:0015159 True McDonough syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009571 MONDO:0018921 True Meckel syndrome, type 1 Meckel syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED MONDO:0009575 MONDO:0000152 True thiamine-responsive megaloblastic anemia syndrome thiamine-responsive dysfunction syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0009580 MONDO:0019502 True intellectual disability, autosomal recessive 1 autosomal recessive non-syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0009588 MONDO:0023599 True Langer mesomelic dysplasia mesomelic dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009593 MONDO:0016763 True spondylometaphyseal dysplasia, Sedaghatian type spondylometaphyseal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0009610 MONDO:0017359 True 3-methylglutaconic aciduria type 1 3-methylglutaconic aciduria UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0009611 MONDO:0017359 True 3-methylglutaconic aciduria type 4 3-methylglutaconic aciduria UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0009612 MONDO:0002012 True methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency methylmalonic acidemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0009617 MONDO:0016660 True microcephaly 1, primary, autosomal recessive autosomal recessive primary microcephaly UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0009623 MONDO:0021190 True Nijmegen breakage syndrome DNA repair disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009575 MONDO:0006025 True thiamine-responsive megaloblastic anemia syndrome autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0009575 MONDO:0020112 True thiamine-responsive megaloblastic anemia syndrome vitamin B12- and folate-independent constitutional megaloblastic anemia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009576 MONDO:0000942 True megalocornea corneal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0009576 MONDO:0003847 True megalocornea hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0009579 MONDO:0019690 True Frank-Ter Haar syndrome filamin-related bone disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009580 MONDO:0019502 True intellectual disability, autosomal recessive 1 autosomal recessive non-syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0009581 MONDO:0015159 True intellectual disability-dysmorphism-hypogonadism-diabetes mellitus syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009584 MONDO:0015159 True intellectual disability, Buenos-Aires type multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009588 MONDO:0018230 True Langer mesomelic dysplasia skeletal dysplasia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009589 MONDO:0015161 True mesomelic dwarfism-cleft palate-camptodactyly syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009589 MONDO:0018230 True mesomelic dwarfism-cleft palate-camptodactyly syndrome skeletal dysplasia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009591 MONDO:0018868 True metachromatic leukodystrophy, juvenile form metachromatic leukodystrophy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009592 MONDO:0018230 True metaphyseal acroscyphodysplasia skeletal dysplasia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009593 MONDO:0016763 True spondylometaphyseal dysplasia, Sedaghatian type spondylometaphyseal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0009594 MONDO:0018230 True metaphyseal chondrodysplasia, Kaitila type skeletal dysplasia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009595 MONDO:0006025 True cartilage-hair hypoplasia autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0009595 MONDO:0015708 True cartilage-hair hypoplasia immuno-osseous dysplasia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009595 MONDO:0019287 True cartilage-hair hypoplasia ectodermal dysplasia syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED +MONDO:0009597 MONDO:0018230 True metaphyseal chondrodysplasia, Spahr type skeletal dysplasia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009599 MONDO:0018230 True metaphyseal dysostosis-intellectual disability-conductive deafness syndrome skeletal dysplasia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009603 MONDO:0019215 True 3-hydroxyisobutyryl-CoA hydrolase deficiency classic organic aciduria UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009607 MONDO:0019222 True methionine adenosyltransferase deficiency inborn disorder of methionine cycle and sulfur amino acid metabolism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009609 MONDO:0018964 True methylcobalamin deficiency type cblG homocystinuria without methylmalonic aciduria UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009610 MONDO:0017359 True 3-methylglutaconic aciduria type 1 3-methylglutaconic aciduria UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0009611 MONDO:0017359 True 3-methylglutaconic aciduria type 4 3-methylglutaconic aciduria UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0009612 MONDO:0002012 True methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency methylmalonic acidemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0009612 MONDO:0019215 True methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency classic organic aciduria UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009613 MONDO:0017214 True methylmalonic aciduria, cblA type vitamin B12-responsive methylmalonic acidemia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009614 MONDO:0017214 True methylmalonic aciduria, cblB type vitamin B12-responsive methylmalonic acidemia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009617 MONDO:0016660 True microcephaly 1, primary, autosomal recessive autosomal recessive primary microcephaly UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0009618 MONDO:0015159 True microcephaly-cardiomyopathy syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009620 MONDO:0003778 True Say-Barber-Miller syndrome inborn error of immunity UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009620 MONDO:0015159 True Say-Barber-Miller syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009621 MONDO:0015159 True microcephaly-cervical spine fusion anomalies syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009622 MONDO:0015159 True Jawad syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009623 MONDO:0006025 True Nijmegen breakage syndrome autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0009623 MONDO:0015161 True Nijmegen breakage syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009624 MONDO:0000181 True microcephaly and chorioretinopathy 1 microcephaly and chorioretinopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0009624 MONDO:0002254 True microcephaly and chorioretinopathy 1 syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0009624 MONDO:0019118 True microcephaly and chorioretinopathy 1 inherited retinal dystrophy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0009625 MONDO:0017868 True diencephalic-mesencephalic junction dysplasia syndrome 1 diencephalic-mesencephalic junction dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0009627 MONDO:0002254 True Galloway-Mowat syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0009626 MONDO:0006025 True pseudo-TORCH syndrome autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0009627 MONDO:0002254 True Galloway-Mowat syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0009629 MONDO:0015426 True Desbuquois dysplasia 1 Desbuquois dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0009630 MONDO:0000170 True microphthalmia, isolated, with coloboma 4 microphthalmia, isolated, with coloboma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0009631 MONDO:0000062 True isolated microphthalmia 1 isolated microphthalmia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0009637 MONDO:0002921 True inborn mitochondrial myopathy congenital structural myopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0009642 MONDO:0015375 True orofaciodigital syndrome type II orofaciodigital syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0009643 MONDO:0020480 True sulfite oxidase deficiency due to molybdenum cofactor deficiency type A sulfite oxidase deficiency due to molybdenum cofactor deficiency UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0009644 MONDO:0020480 True sulfite oxidase deficiency due to molybdenum cofactor deficiency type B sulfite oxidase deficiency due to molybdenum cofactor deficiency UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0009631 MONDO:0000062 True isolated microphthalmia 1 isolated microphthalmia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0009636 MONDO:0019236 True mitochondrial DNA depletion syndrome 3 (hepatocerebral type) inborn disorder of purine metabolism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009636 MONDO:0100512 True mitochondrial DNA depletion syndrome 3 (hepatocerebral type) mitochondrial DNA depletion syndrome, hepatocerebral form UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009642 MONDO:0015375 True orofaciodigital syndrome type II orofaciodigital syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0009643 MONDO:0020480 True sulfite oxidase deficiency due to molybdenum cofactor deficiency type A sulfite oxidase deficiency due to molybdenum cofactor deficiency UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0009644 MONDO:0020480 True sulfite oxidase deficiency due to molybdenum cofactor deficiency type B sulfite oxidase deficiency due to molybdenum cofactor deficiency UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED MONDO:0009646 MONDO:0044645 True monosomy 7 myelodysplasia and leukemia syndrome 1 familial monosomy 7 syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0009648 MONDO:0015914 True peripheral motor neuropathy-dysautonomia syndrome primary orthostatic hypotension UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009649 MONDO:0016820 True moyamoya disease 1 Moyamoya disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0009655 MONDO:0018937 True mucopolysaccharidosis type 3A mucopolysaccharidosis type 3 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0009656 MONDO:0018937 True mucopolysaccharidosis type 3B mucopolysaccharidosis type 3 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0009657 MONDO:0018937 True mucopolysaccharidosis type 3C mucopolysaccharidosis type 3 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0009658 MONDO:0018937 True mucopolysaccharidosis type 3D mucopolysaccharidosis type 3 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0009659 MONDO:0018938 True mucopolysaccharidosis type 4A mucopolysaccharidosis type 4 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0009660 MONDO:0018938 True mucopolysaccharidosis type 4B mucopolysaccharidosis type 4 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0009661 MONDO:0002254 True mucopolysaccharidosis type 6 syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0009661 MONDO:0019249 True mucopolysaccharidosis type 6 mucopolysaccharidosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0009662 MONDO:0019249 True mucopolysaccharidosis type 7 mucopolysaccharidosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0009664 MONDO:0002254 True mulibrey nanism syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0009650 MONDO:0800088 True mucolipidosis type II lysosomal storage disease with skeletal involvement UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009652 MONDO:0031422 True GNPTG-mucolipidosis familial mucolipidosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0009652 MONDO:0800088 True GNPTG-mucolipidosis lysosomal storage disease with skeletal involvement UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009653 MONDO:0031422 True mucolipidosis type IV familial mucolipidosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0009655 MONDO:0018937 True mucopolysaccharidosis type 3A mucopolysaccharidosis type 3 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0009655 MONDO:0800088 True mucopolysaccharidosis type 3A lysosomal storage disease with skeletal involvement UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009656 MONDO:0018937 True mucopolysaccharidosis type 3B mucopolysaccharidosis type 3 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0009656 MONDO:0800088 True mucopolysaccharidosis type 3B lysosomal storage disease with skeletal involvement UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009657 MONDO:0018937 True mucopolysaccharidosis type 3C mucopolysaccharidosis type 3 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0009657 MONDO:0800088 True mucopolysaccharidosis type 3C lysosomal storage disease with skeletal involvement UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009658 MONDO:0018937 True mucopolysaccharidosis type 3D mucopolysaccharidosis type 3 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0009658 MONDO:0800088 True mucopolysaccharidosis type 3D lysosomal storage disease with skeletal involvement UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009659 MONDO:0018938 True mucopolysaccharidosis type 4A mucopolysaccharidosis type 4 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0009659 MONDO:0800088 True mucopolysaccharidosis type 4A lysosomal storage disease with skeletal involvement UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009660 MONDO:0018938 True mucopolysaccharidosis type 4B mucopolysaccharidosis type 4 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0009660 MONDO:0800088 True mucopolysaccharidosis type 4B lysosomal storage disease with skeletal involvement UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009661 MONDO:0019249 True mucopolysaccharidosis type 6 mucopolysaccharidosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0009661 MONDO:0800088 True mucopolysaccharidosis type 6 lysosomal storage disease with skeletal involvement UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009662 MONDO:0019249 True mucopolysaccharidosis type 7 mucopolysaccharidosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0009662 MONDO:0800088 True mucopolysaccharidosis type 7 lysosomal storage disease with skeletal involvement UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009664 MONDO:0002254 True mulibrey nanism syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0009664 MONDO:0006025 True mulibrey nanism autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0009665 MONDO:0015454 True biotinidase deficiency multiple carboxylase deficiency UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0009665 MONDO:0020127 True biotinidase deficiency hereditary peripheral neuropathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009666 MONDO:0015454 True holocarboxylase synthetase deficiency multiple carboxylase deficiency UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0009667 MONDO:0000171 True muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3 muscular dystrophy-dystroglycanopathy, type A UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0009668 MONDO:0002254 True lethal multiple pterygium syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009670 MONDO:0017436 True lethal congenital contracture syndrome 1 lethal congenital contracture syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0009675 MONDO:0015152 True autosomal recessive limb-girdle muscular dystrophy type 2A autosomal recessive limb-girdle muscular dystrophy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0009676 MONDO:0015152 True autosomal recessive limb-girdle muscular dystrophy type 2B autosomal recessive limb-girdle muscular dystrophy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0009677 MONDO:0015152 True autosomal recessive limb-girdle muscular dystrophy type 2C autosomal recessive limb-girdle muscular dystrophy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0009668 MONDO:0017415 True lethal multiple pterygium syndrome multiple pterygium syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009669 MONDO:0019079 True spinal muscular atrophy, type 1 proximal spinal muscular atrophy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009670 MONDO:0002254 True lethal congenital contracture syndrome 1 syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0009670 MONDO:0015161 True lethal congenital contracture syndrome 1 multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009670 MONDO:0015929 True lethal congenital contracture syndrome 1 thoracic malformation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009670 MONDO:0017436 True lethal congenital contracture syndrome 1 lethal congenital contracture syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0009671 MONDO:0019952 True intellectual disability-myopathy-short stature-endocrine defect syndrome congenital myopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0009672 MONDO:0019079 True spinal muscular atrophy, type III proximal spinal muscular atrophy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009673 MONDO:0019079 True spinal muscular atrophy, type II proximal spinal muscular atrophy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009675 MONDO:0015152 True autosomal recessive limb-girdle muscular dystrophy type 2A autosomal recessive limb-girdle muscular dystrophy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0009676 MONDO:0015152 True autosomal recessive limb-girdle muscular dystrophy type 2B autosomal recessive limb-girdle muscular dystrophy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0009676 MONDO:0016145 True autosomal recessive limb-girdle muscular dystrophy type 2B qualitative or quantitative defects of dysferlin UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009677 MONDO:0015152 True autosomal recessive limb-girdle muscular dystrophy type 2C autosomal recessive limb-girdle muscular dystrophy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0009677 MONDO:0016143 True autosomal recessive limb-girdle muscular dystrophy type 2C qualitative or quantitative defects of gamma-sarcoglycan UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009677 MONDO:0016333 True autosomal recessive limb-girdle muscular dystrophy type 2C familial dilated cardiomyopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0009678 MONDO:0000171 True muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 muscular dystrophy-dystroglycanopathy, type A UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0009680 MONDO:0019950 True congenital muscular dystrophy-infantile cataract-hypogonadism syndrome congenital muscular dystrophy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009681 MONDO:0000355 True Ullrich congenital muscular dystrophy 1 Ullrich congenital muscular dystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0009683 MONDO:0015152 True autosomal recessive limb-girdle muscular dystrophy type 2H autosomal recessive limb-girdle muscular dystrophy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0009689 MONDO:0018940 True congenital myasthenic syndrome 6 congenital myasthenic syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0009691 MONDO:0000607 True mycosis fungoides primary cutaneous T-cell non-Hodgkin lymphoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0009692 MONDO:0020076 True primary myelofibrosis myeloproliferative neoplasm UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0009693 MONDO:0004959 True plasma cell myeloma plasma cell neoplasm UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0009697 MONDO:0020074 True Lafora disease progressive myoclonus epilepsy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0009698 MONDO:0020074 True Unverricht-Lundborg syndrome progressive myoclonus epilepsy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0009699 MONDO:0020074 True action myoclonus-renal failure syndrome progressive myoclonus epilepsy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0009705 MONDO:0037858 True carnitine palmitoyl transferase 1A deficiency inherited fatty acid metabolism disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009683 MONDO:0015152 True autosomal recessive limb-girdle muscular dystrophy type 2H autosomal recessive limb-girdle muscular dystrophy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0009683 MONDO:0016153 True autosomal recessive limb-girdle muscular dystrophy type 2H qualitative or quantitative defects of TRIM32 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009685 MONDO:0018949 True Miyoshi myopathy distal myopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED +MONDO:0009689 MONDO:0018940 True congenital myasthenic syndrome 6 congenital myasthenic syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0009691 MONDO:0000607 True mycosis fungoides primary cutaneous T-cell non-Hodgkin lymphoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0009691 MONDO:0015821 True mycosis fungoides mycosis fungoides and variants UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009692 MONDO:0015610 True primary myelofibrosis acquired aplastic anemia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009692 MONDO:0020076 True primary myelofibrosis myeloproliferative neoplasm UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0009693 MONDO:0004959 True plasma cell myeloma plasma cell neoplasm UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0009693 MONDO:0005170 True plasma cell myeloma myeloid neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0009694 MONDO:0015978 True myeloperoxidase deficiency functional neutrophil defect UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009696 MONDO:0000415 True juvenile myoclonic epilepsy adolescence-adult electroclinical syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0009696 MONDO:0017704 True juvenile myoclonic epilepsy familial partial epilepsy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009697 MONDO:0020074 True Lafora disease progressive myoclonus epilepsy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0009698 MONDO:0020074 True Unverricht-Lundborg syndrome progressive myoclonus epilepsy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0009699 MONDO:0020074 True action myoclonus-renal failure syndrome progressive myoclonus epilepsy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0009704 MONDO:0015515 True carnitine palmitoyl transferase II deficiency, myopathic form carnitine palmitoyltransferase II deficiency UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009705 MONDO:0017716 True carnitine palmitoyl transferase 1A deficiency disorder of carnitine cycle and carnitine transport UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009706 MONDO:0020123 True hereditary myopathy with lactic acidosis due to ISCU deficiency metabolic myopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009708 MONDO:0019952 True myopathy, myosin storage, autosomal recessive congenital myopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0009709 MONDO:0015705 True myopathy, centronuclear, 2 autosomal recessive centronuclear myopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0009710 MONDO:0019119 True Thomsen and Becker disease muscular channelopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009712 MONDO:0018948 True congenital multicore myopathy with external ophthalmoplegia multiminicore myopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009713 MONDO:0001384 True myopia 18, autosomal recessive myopia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0009717 MONDO:0002254 True Schwartz-Jampel syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009718 MONDO:0005420 True myxedema hypothyroidism UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0009717 MONDO:0016151 True Schwartz-Jampel syndrome qualitative or quantitative defects of perlecan UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009718 MONDO:0005420 True myxedema hypothyroidism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0009720 MONDO:0015161 True Keipert syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009722 MONDO:0019952 True Bailey-Bloch congenital myopathy congenital myopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0009723 MONDO:0016387 True Leigh syndrome mitochondrial oxidative phosphorylation disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009723 MONDO:0020127 True Leigh syndrome hereditary peripheral neuropathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009726 MONDO:0006025 True proteosome-associated autoinflammatory syndrome autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0009726 MONDO:0019751 True proteosome-associated autoinflammatory syndrome autoinflammatory syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009727 MONDO:0000389 True atelosteogenesis type II atelosteogenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0009728 MONDO:0019005 True nephronophthisis 1 nephronophthisis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0009732 MONDO:0002350 True congenital nephrotic syndrome, Finnish type familial nephrotic syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0009733 MONDO:0002350 True nephrotic syndrome, type 4 familial nephrotic syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0009734 MONDO:0005803 True hyperinsulinemic hypoglycemia, familial, 1 hyperinsulinemic hypoglycemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0009735 MONDO:0002254 True Netherton syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0009736 MONDO:0000179 True Neu-Laxova syndrome 1 Neu-Laxova syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0009744 MONDO:0016295 True neuronal ceroid lipofuscinosis 1 neuronal ceroid lipofuscinosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0009745 MONDO:0016295 True neuronal ceroid lipofuscinosis 5 neuronal ceroid lipofuscinosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0009746 MONDO:0015364 True hereditary sensory and autonomic neuropathy type 4 hereditary sensory and autonomic neuropathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0009728 MONDO:0005308 True nephronophthisis 1 ciliopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0009728 MONDO:0019005 True nephronophthisis 1 nephronophthisis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0009731 MONDO:0015161 True nephrosis-deafness-urinary tract-digital malformations syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009732 MONDO:0002350 True congenital nephrotic syndrome, Finnish type familial nephrotic syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0009733 MONDO:0002350 True nephrotic syndrome, type 4 familial nephrotic syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0009734 MONDO:0005803 True hyperinsulinemic hypoglycemia, familial, 1 hyperinsulinemic hypoglycemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0009735 MONDO:0006025 True Netherton syndrome autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0009735 MONDO:0015947 True Netherton syndrome inherited ichthyosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009735 MONDO:0018037 True Netherton syndrome hyper-IgE syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS +MONDO:0009736 MONDO:0000179 True Neu-Laxova syndrome 1 Neu-Laxova syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0009737 MONDO:0019251 True galactosialidosis oligosaccharidosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009737 MONDO:0800088 True galactosialidosis lysosomal storage disease with skeletal involvement UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009738 MONDO:0017734 True sialidosis type 2 sialidosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009738 MONDO:0031422 True sialidosis type 2 familial mucolipidosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0009738 MONDO:0800088 True sialidosis type 2 lysosomal storage disease with skeletal involvement UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009740 MONDO:0015159 True neurofaciodigitorenal syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009744 MONDO:0016295 True neuronal ceroid lipofuscinosis 1 neuronal ceroid lipofuscinosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0009745 MONDO:0016295 True neuronal ceroid lipofuscinosis 5 neuronal ceroid lipofuscinosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0009746 MONDO:0015364 True hereditary sensory and autonomic neuropathy type 4 hereditary sensory and autonomic neuropathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0009747 MONDO:0100512 True mitochondrial DNA depletion syndrome 6 (hepatocerebral type) mitochondrial DNA depletion syndrome, hepatocerebral form UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009748 MONDO:0015150 True hereditary sensory and autonomic neuropathy with spastic paraplegia complex hereditary spastic paraplegia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009748 MONDO:0020127 True hereditary sensory and autonomic neuropathy with spastic paraplegia hereditary peripheral neuropathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009749 MONDO:0000128 True giant axonal neuropathy 1 giant axonal neuropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0009751 MONDO:0015364 True neuropathy, hereditary sensory, atypical hereditary sensory and autonomic neuropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED MONDO:0009755 MONDO:0005073 True neutrophil actin dysfunction melanocytic nevus UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009758 MONDO:0016293 True congenital stationary night blindness 1B congenital stationary night blindness UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0009759 MONDO:0000141 True mosaic variegated aneuploidy syndrome 1 mosaic variegated aneuploidy syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0009761 MONDO:0002013 True cystic hygroma lymphangioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0009762 MONDO:0005712 True nystagmus, congenital, autosomal recessive congenital nystagmus UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0009770 MONDO:0017398 True 3MC syndrome 1 3MC syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0009775 MONDO:0016293 True Oguchi disease-1 congenital stationary night blindness UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0009776 MONDO:0004983 True spermatogenic failure 1 spermatogenic failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0009779 MONDO:0017136 True autosomal recessive omodysplasia omodysplasia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0009758 MONDO:0016293 True congenital stationary night blindness 1B congenital stationary night blindness UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0009759 MONDO:0000141 True mosaic variegated aneuploidy syndrome 1 mosaic variegated aneuploidy syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0009760 MONDO:0015204 True Norman-Roberts syndrome microlissencephaly UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0009761 MONDO:0002013 True cystic hygroma lymphangioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0009762 MONDO:0005712 True nystagmus, congenital, autosomal recessive congenital nystagmus UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0009764 MONDO:0005328 True ocular motor apraxia, Cogan type eye disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0009767 MONDO:0017305 True oculocerebral hypopigmentation syndrome, Cross type syndromic oculocutaneous albinism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009769 MONDO:0015159 True oculo-palato-cerebral syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009770 MONDO:0017398 True 3MC syndrome 1 3MC syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0009771 MONDO:0019287 True oculotrichodysplasia ectodermal dysplasia syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0009773 MONDO:0017666 True odonto-onycho-dermal dysplasia diffuse palmoplantar keratoderma UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009774 MONDO:0017919 True cloacal exstrophy exstrophy-epispadias complex UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0009775 MONDO:0016293 True Oguchi disease-1 congenital stationary night blindness UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0009776 MONDO:0004983 True spermatogenic failure 1 spermatogenic failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0009777 MONDO:0015159 True Oliver syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009779 MONDO:0006025 True autosomal recessive omodysplasia autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0009779 MONDO:0017136 True autosomal recessive omodysplasia omodysplasia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0009780 MONDO:0015159 True lethal omphalocele-cleft palate syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009783 MONDO:0000090 True progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1 progressive external ophthalmoplegia with mitochondrial DNA deletions UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0009786 MONDO:0043878 True optic atrophy 6 hereditary optic atrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0009787 MONDO:0017359 True 3-methylglutaconic aciduria type 3 3-methylglutaconic aciduria UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0009793 MONDO:0015375 True orofaciodigital syndrome III orofaciodigital syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0009794 MONDO:0015375 True orofaciodigital syndrome IV orofaciodigital syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0009795 MONDO:0015375 True orofaciodigital syndrome IX orofaciodigital syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0009787 MONDO:0017359 True 3-methylglutaconic aciduria type 3 3-methylglutaconic aciduria UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0009792 MONDO:0015161 True ichthyosis-oral and digital anomalies syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009792 MONDO:0015947 True ichthyosis-oral and digital anomalies syndrome inherited ichthyosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009793 MONDO:0015375 True orofaciodigital syndrome III orofaciodigital syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0009794 MONDO:0015375 True orofaciodigital syndrome IV orofaciodigital syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0009794 MONDO:0015929 True orofaciodigital syndrome IV thoracic malformation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009794 MONDO:0019691 True orofaciodigital syndrome IV short rib dysplasia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009795 MONDO:0015375 True orofaciodigital syndrome IX orofaciodigital syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0009796 MONDO:0001898 True ornithine aminotransferase deficiency optic choroid disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0009796 MONDO:0017356 True ornithine aminotransferase deficiency inborn disorder of ornithine metabolism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009796 MONDO:0020127 True ornithine aminotransferase deficiency hereditary peripheral neuropathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009797 MONDO:0019238 True orotic aciduria inborn disorder of pyrimidine metabolism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0009797 MONDO:0020112 True orotic aciduria vitamin B12- and folate-independent constitutional megaloblastic anemia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009807 MONDO:0005089 True osteosarcoma sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0009808 MONDO:0000631 True osteoid osteoma bone benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009808 MONDO:0045052 True osteoid osteoma benign osteogenic neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009809 MONDO:0002254 True multicentric osteolysis, nodulosis, and arthropathy syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009813 MONDO:0005246 True chronic recurrent multifocal osteomyelitis osteomyelitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0009815 MONDO:0019026 True autosomal recessive osteopetrosis 1 autosomal recessive osteopetrosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0009810 MONDO:0019707 True autosomal recessive distal osteolysis syndrome primary osteolysis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009813 MONDO:0005246 True chronic recurrent multifocal osteomyelitis osteomyelitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0009813 MONDO:0019751 True chronic recurrent multifocal osteomyelitis autoinflammatory syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009815 MONDO:0019026 True autosomal recessive osteopetrosis 1 autosomal recessive osteopetrosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0009816 MONDO:0019026 True autosomal recessive osteopetrosis 2 autosomal recessive osteopetrosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0009817 MONDO:0019026 True autosomal recessive osteopetrosis 5 autosomal recessive osteopetrosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0009818 MONDO:0019026 True autosomal recessive osteopetrosis 3 autosomal recessive osteopetrosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0009820 MONDO:0002254 True osteoporosis-pseudoglioma syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0009823 MONDO:0002474 True primary hyperoxaluria type 1 primary hyperoxaluria UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0009824 MONDO:0002474 True primary hyperoxaluria type 2 primary hyperoxaluria UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0009830 MONDO:0005180 True parkinsonian-pyramidal syndrome Parkinson disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0009820 MONDO:0002254 True osteoporosis-pseudoglioma syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0009820 MONDO:0006025 True osteoporosis-pseudoglioma syndrome autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0009821 MONDO:0019702 True lethal osteosclerotic bone dysplasia neonatal osteosclerotic dysplasia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009822 MONDO:0015161 True otoonychoperoneal syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009822 MONDO:0018234 True otoonychoperoneal syndrome dysostosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009823 MONDO:0002474 True primary hyperoxaluria type 1 primary hyperoxaluria UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0009824 MONDO:0002474 True primary hyperoxaluria type 2 primary hyperoxaluria UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0009830 MONDO:0005180 True parkinsonian-pyramidal syndrome Parkinson disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED MONDO:0009831 MONDO:0002516 True malignant pancreatic neoplasm digestive system cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0009831 MONDO:0021040 True malignant pancreatic neoplasm pancreatic neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009833 MONDO:0002254 True Shwachman-Diamond syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0009835 MONDO:0006009 True subacute sclerosing panencephalitis viral encephalitis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0009837 MONDO:0002363 True choroid plexus papilloma papilloma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0009833 MONDO:0002254 True Shwachman-Diamond syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0009837 MONDO:0002363 True choroid plexus papilloma papilloma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0009837 MONDO:0044764 True choroid plexus papilloma benign choroid plexus neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009838 MONDO:0002254 True Parana hard-skin syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009838 MONDO:0005093 True Parana hard-skin syndrome skin disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009856 MONDO:0002254 True Peters plus syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0009865 MONDO:0002412 True glycogen storage disease due to phosphoglycerate mutase deficiency disorder of glycogen metabolism UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING -MONDO:0009874 MONDO:0002254 True Rabson-Mendenhall syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009876 MONDO:0000050 True isolated growth hormone deficiency type IA isolated congenital growth hormone deficiency UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0009839 MONDO:0020488 True progressive supranuclear palsy-parkinsonism syndrome atypical progressive supranuclear palsy syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009839 MONDO:0024237 True progressive supranuclear palsy-parkinsonism syndrome inherited neurodegenerative disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009841 MONDO:0024237 True PEHO syndrome inherited neurodegenerative disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009843 MONDO:0017226 True hypomyelinating leukodystrophy 3 Pelizaeus-Merzbacher-like disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009845 MONDO:0018234 True pelviscapular dysplasia dysostosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009845 MONDO:0019054 True pelviscapular dysplasia congenital limb malformation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009848 MONDO:0019296 True dissecting cellulitis of the scalp subcutaneous tissue disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009849 MONDO:0017708 True hyperimmunoglobulinemia D with periodic fever mevalonate kinase deficiency UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009852 MONDO:0000424 True hereditary intrinsic factor deficiency inborn vitamin B12 deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0009852 MONDO:0016624 True hereditary intrinsic factor deficiency inherited deficiency anemia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009852 MONDO:0019220 True hereditary intrinsic factor deficiency inborn disorder of cobalamin metabolism and transport UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009853 MONDO:0016624 True Imerslund-Grasbeck syndrome inherited deficiency anemia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009853 MONDO:0019220 True Imerslund-Grasbeck syndrome inborn disorder of cobalamin metabolism and transport UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009855 MONDO:0019233 True d-bifunctional protein deficiency disorder of peroxisomal beta oxidation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009856 MONDO:0002254 True Peters plus syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0009856 MONDO:0015159 True Peters plus syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009856 MONDO:0015327 True Peters plus syndrome developmental anomaly of metabolic origin UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009856 MONDO:0017747 True Peters plus syndrome disorder of fucoglycosan synthesis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009857 MONDO:0005518 True persistent Mullerian duct syndrome pseudohermaphroditism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0009858 MONDO:0015159 True Pfeiffer-Palm-Teller syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009859 MONDO:0015161 True PHAVER syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009861 MONDO:0017306 True phenylketonuria disorder of phenylalanine metabolism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009862 MONDO:0016543 True dihydropteridine reductase deficiency hyperphenylalaninemia due to tetrahydrobiopterin deficiency UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009863 MONDO:0016543 True BH4-deficient hyperphenylalaninemia A hyperphenylalaninemia due to tetrahydrobiopterin deficiency UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009865 MONDO:0002412 True glycogen storage disease due to phosphoglycerate mutase deficiency disorder of glycogen metabolism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0009867 MONDO:0002412 True lethal congenital glycogen storage disease of heart disorder of glycogen metabolism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0009868 MONDO:0002412 True glycogen storage disease IXb disorder of glycogen metabolism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0009870 MONDO:0019278 True pili torti hair anomaly UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009872 MONDO:0006025 True Bjornstad syndrome autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0009873 MONDO:0019287 True pilodental dysplasia-refractive errors syndrome ectodermal dysplasia syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0009874 MONDO:0019280 True Rabson-Mendenhall syndrome hypertrichosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009875 MONDO:0018852 True achromatopsia 3 achromatopsia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0009876 MONDO:0000050 True isolated growth hormone deficiency type IA isolated congenital growth hormone deficiency UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0009877 MONDO:0006025 True Laron syndrome autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0009877 MONDO:0015892 True Laron syndrome growth hormone insensitivity syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009879 MONDO:0000050 True short stature due to growth hormone qualitative anomaly isolated congenital growth hormone deficiency UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0009880 MONDO:0013099 True short stature-pituitary and cerebellar defects-small sella turcica syndrome combined pituitary hormone deficiencies, genetic form UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0009880 MONDO:0018762 True short stature-pituitary and cerebellar defects-small sella turcica syndrome non-acquired combined pituitary hormone deficiency UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009883 MONDO:0002243 True alpha-2-plasmin inhibitor deficiency hemorrhagic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0009883 MONDO:0021181 True alpha-2-plasmin inhibitor deficiency inherited blood coagulation disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009885 MONDO:0000009 True Scott syndrome inherited bleeding disorder, platelet-type UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0009887 MONDO:0002429 True desquamative interstitial pneumonia idiopathic interstitial pneumonia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0009889 MONDO:0020642 True autosomal recessive polycystic kidney disease polycystic kidney disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0009891 MONDO:0005571 True acquired polycythemia vera polycythemia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0009885 MONDO:0021181 True Scott syndrome inherited blood coagulation disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009887 MONDO:0002429 True desquamative interstitial pneumonia idiopathic interstitial pneumonia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0009889 MONDO:0006025 True autosomal recessive polycystic kidney disease autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0009889 MONDO:0020642 True autosomal recessive polycystic kidney disease polycystic kidney disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0009891 MONDO:0005571 True acquired polycythemia vera polycythemia UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0009891 MONDO:0020703 True acquired polycythemia vera erythroid neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009892 MONDO:0001115 True Chuvash polycythemia familial polycythemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0009894 MONDO:0018770 True short-rib thoracic dysplasia 6 with or without polydactyly Jeune syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0009902 MONDO:0019142 True cutaneous porphyria inherited porphyria UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0009904 MONDO:0002254 True Gitelman syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0009892 MONDO:0001115 True Chuvash polycythemia familial polycythemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0009892 MONDO:0016540 True Chuvash polycythemia congenital secondary polycythemia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009894 MONDO:0018770 True short-rib thoracic dysplasia 6 with or without polydactyly Jeune syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0009897 MONDO:0009292 True adult polyglucosan body disease glycogen storage disease due to glycogen branching enzyme deficiency UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0009897 MONDO:0020127 True adult polyglucosan body disease hereditary peripheral neuropathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009900 MONDO:0015161 True polysyndactyly-cardiac malformation syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009901 MONDO:0017435 True Bartsocas-Papas syndrome 1 popliteal pterygium syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009901 MONDO:0019287 True Bartsocas-Papas syndrome 1 ectodermal dysplasia syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0009901 MONDO:0043009 True Bartsocas-Papas syndrome 1 hereditary lethal multiple congenital anomalies/dysmorphic syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009902 MONDO:0019142 True cutaneous porphyria inherited porphyria UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0009903 MONDO:0002254 True postaxial acrofacial dysostosis syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0009903 MONDO:0015161 True postaxial acrofacial dysostosis multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009903 MONDO:0018237 True postaxial acrofacial dysostosis acrofacial dysostosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0009904 MONDO:0006510 True Gitelman syndrome renal tubular transport disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0009904 MONDO:0015962 True Gitelman syndrome inherited renal tubular disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009905 MONDO:0015159 True urban-Rogers-Meyer syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009908 MONDO:0016543 True pterin-4 alpha-carbinolamine dehydratase 1 deficiency hyperphenylalaninemia due to tetrahydrobiopterin deficiency UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009910 MONDO:0002254 True Wiedemann-Rautenstrauch syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0009910 MONDO:0015159 True Wiedemann-Rautenstrauch syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009910 MONDO:0020087 True Wiedemann-Rautenstrauch syndrome hereditary lipodystrophy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009910 MONDO:0020732 True Wiedemann-Rautenstrauch syndrome progeria UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0009921 MONDO:0002254 True holoprosencephaly-postaxial polydactyly syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009923 MONDO:0002525 True 46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency inherited lipid metabolism disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009926 MONDO:0002254 True autosomal recessive multiple pterygium syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009927 MONDO:0017398 True 3MC syndrome 2 3MC syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0009914 MONDO:0018230 True pseudodiastrophic dysplasia skeletal dysplasia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009914 MONDO:0019755 True pseudodiastrophic dysplasia developmental defect during embryogenesis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009915 MONDO:0017576 True 46,XX disorder of sex development-skeletal anomalies syndrome 46,XX disorder of sex development UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009916 MONDO:0003847 True 46,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0009916 MONDO:0020040 True 46,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency 46,XY disorder of sex development UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009917 MONDO:0019161 True autosomal recessive pseudohypoaldosteronism type 1 pseudohypoaldosteronism type 1 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009919 MONDO:0019233 True peroxisomal acyl-CoA oxidase deficiency disorder of peroxisomal beta oxidation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009921 MONDO:0015159 True holoprosencephaly-postaxial polydactyly syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009923 MONDO:0020040 True 46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency 46,XY disorder of sex development UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009924 MONDO:0017323 True vitamin D-dependent rickets, type 1 hypocalcemic rickets UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009925 MONDO:0006025 True autosomal recessive inherited pseudoxanthoma elasticum autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0009926 MONDO:0015161 True autosomal recessive multiple pterygium syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009926 MONDO:0017415 True autosomal recessive multiple pterygium syndrome multiple pterygium syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009927 MONDO:0017398 True 3MC syndrome 2 3MC syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0009928 MONDO:0005275 True pulmonary alveolar microlithiasis lung disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0009929 MONDO:0012580 True neonatal acute respiratory distress due to SP-B deficiency hereditary pulmonary alveolar proteinosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0009933 MONDO:0005087 True congenital pulmonary lymphangiectasia respiratory system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009933 MONDO:0006840 True congenital pulmonary lymphangiectasia lymphangiectasis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009937 MONDO:0005385 True pulmonary venoocclusive disease vascular disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0009953 MONDO:0005501 True leukocyte adhesion deficiency type II congenital disorder of glycosylation type II UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0009953 MONDO:0017570 True leukocyte adhesion deficiency type II leukocyte adhesion deficiency UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0009960 MONDO:0005265 True inflammatory bowel disease 1 inflammatory bowel disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0009931 MONDO:0020291 True pulmonary atresia-intact ventricular septum syndrome hypoplastic right heart syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009934 MONDO:0017015 True alveolar capillary dysplasia with misalignment of pulmonary veins primary interstitial lung disease specific to childhood UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009937 MONDO:0005385 True pulmonary venoocclusive disease vascular disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0009940 MONDO:0002561 True pycnodysostosis lysosomal storage disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0009940 MONDO:0005516 True pycnodysostosis osteochondrodysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0009940 MONDO:0017198 True pycnodysostosis osteopetrosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0009942 MONDO:0018230 True pyknoachondrogenesis skeletal dysplasia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009943 MONDO:0005516 True Pyle disease osteochondrodysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0009943 MONDO:0018230 True Pyle disease skeletal dysplasia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009945 MONDO:0019237 True pyridoxine-dependent epilepsy inborn disorder of pyridoxine metabolism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009946 MONDO:0019238 True hemolytic anemia due to pyrimidine 5' nucleotidase deficiency inborn disorder of pyrimidine metabolism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009947 MONDO:0017909 True glutathione synthetase deficiency with 5-oxoprolinuria inherited glutathione synthetase deficiency UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0009949 MONDO:0019225 True pyruvate carboxylase deficiency disease disorder of gluconeogenesis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009950 MONDO:0006506 True pyruvate kinase deficiency of red cells congenital nonspherocytic hemolytic anemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0009952 MONDO:0015159 True radioulnar synostosis-developmental delay-hypotonia syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009952 MONDO:0019054 True radioulnar synostosis-developmental delay-hypotonia syndrome congenital limb malformation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009953 MONDO:0005501 True leukocyte adhesion deficiency type II congenital disorder of glycosylation type II UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0009953 MONDO:0017570 True leukocyte adhesion deficiency type II leukocyte adhesion deficiency UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0009953 MONDO:0017749 True leukocyte adhesion deficiency type II disorder of multiple glycosylation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009955 MONDO:0006025 True rapadilino syndrome autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0009955 MONDO:0015161 True rapadilino syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009955 MONDO:0018234 True rapadilino syndrome dysostosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0009955 MONDO:0019054 True rapadilino syndrome congenital limb malformation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009960 MONDO:0005265 True inflammatory bowel disease 1 inflammatory bowel disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED MONDO:0009962 MONDO:0017842 True Senior-Loken syndrome 1 Senior-Loken syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0009964 MONDO:0018770 True short-rib thoracic dysplasia 9 with or without polydactyly Jeune syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0009965 MONDO:0002254 True Perlman syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0009966 MONDO:0018921 True NPHP3-related Meckel-like syndrome Meckel syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0009963 MONDO:0015159 True Ulbright-Hodes syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009964 MONDO:0018770 True short-rib thoracic dysplasia 9 with or without polydactyly Jeune syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0009965 MONDO:0002254 True Perlman syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0009965 MONDO:0019716 True Perlman syndrome overgrowth syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009966 MONDO:0018921 True NPHP3-related Meckel-like syndrome Meckel syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0009966 MONDO:0020022 True NPHP3-related Meckel-like syndrome central nervous system malformation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009970 MONDO:0017609 True renal tubular dysgenesis of genetic origin renal tubular dysgenesis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009973 MONDO:0017855 True reticular dysgenesis T-B- severe combined immunodeficiency UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009973 MONDO:0031520 True reticular dysgenesis familial severe combined immunodeficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0009974 MONDO:0015541 True familial hemophagocytic lymphohistiocytosis type 1 hereditary hemophagocytic lymphohistiocytosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0009990 MONDO:0015780 True Revesz syndrome dyskeratosis congenita UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0009993 MONDO:0005212 True embryonal rhabdomyosarcoma rhabdomyosarcoma UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0009994 MONDO:0005212 True alveolar rhabdomyosarcoma rhabdomyosarcoma UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0009999 MONDO:0019978 True autosomal recessive Robinow syndrome Robinow syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0010002 MONDO:0015356 True Rothmund-Thomson syndrome hereditary neoplastic syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010004 MONDO:0002254 True EEC syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0010006 MONDO:0017720 True Sandhoff disease GM2 gangliosidosis SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0010011 MONDO:0002320 True schizencephaly congenital nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010012 MONDO:0017278 True autoimmune polyendocrinopathy type 2 autoimmune polyendocrinopathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0010015 MONDO:0019503 True anterior segment dysgenesis 7 anterior segment dysgenesis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0010016 MONDO:0017838 True sclerosteosis 1 sclerosteosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0010020 MONDO:0006536 True congenital generalized lipodystrophy type 2 congenital generalized lipodystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0009975 MONDO:0000612 True reticulum cell sarcoma lymphatic system cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0009975 MONDO:0020082 True reticulum cell sarcoma dendritic cell tumor UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009978 MONDO:0019118 True retinal degeneration-nanophthalmos-glaucoma syndrome inherited retinal dystrophy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009979 MONDO:0018973 True reticular dystrophy of the retinal pigment epithelium patterned dystrophy of the retinal pigment epithelium UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009984 MONDO:0019200 True late-adult onset retinitis pigmentosa retinitis pigmentosa UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED +MONDO:0009987 MONDO:0019200 True autosomal recessive pericentral pigmentary retinopathy retinitis pigmentosa UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED +MONDO:0009990 MONDO:0015780 True Revesz syndrome dyskeratosis congenita UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0009990 MONDO:0019118 True Revesz syndrome inherited retinal dystrophy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0009993 MONDO:0005212 True embryonal rhabdomyosarcoma rhabdomyosarcoma UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0009994 MONDO:0005212 True alveolar rhabdomyosarcoma rhabdomyosarcoma UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0009996 MONDO:0018230 True rhizomelic syndrome, Urbach type skeletal dysplasia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009998 MONDO:0015161 True Richieri Costa-Pereira syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009999 MONDO:0006025 True autosomal recessive Robinow syndrome autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0009999 MONDO:0019978 True autosomal recessive Robinow syndrome Robinow syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0010001 MONDO:0019287 True ectodermal dysplasia-blindness syndrome ectodermal dysplasia syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0010002 MONDO:0015951 True Rothmund-Thomson syndrome hereditary photodermatosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010004 MONDO:0000426 True EEC syndrome autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0010004 MONDO:0002254 True EEC syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0010004 MONDO:0018234 True EEC syndrome dysostosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0010005 MONDO:0017351 True saccharopinuria inborn disorder of lysine and hydroxylysine metabolism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010006 MONDO:0017720 True Sandhoff disease GM2 gangliosidosis SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0010006 MONDO:0020127 True Sandhoff disease hereditary peripheral neuropathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010006 MONDO:0020143 True Sandhoff disease cerebral lipidosis with dementia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0010007 MONDO:0015159 True microbrachycephaly-ptosis-cleft lip syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010008 MONDO:0019239 True sarcosinemia inborn disorder of serine family metabolism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010010 MONDO:0019287 True Schinzel-Giedion syndrome ectodermal dysplasia syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0010011 MONDO:0017103 True schizencephaly encephaloclastic disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010012 MONDO:0017278 True autoimmune polyendocrinopathy type 2 autoimmune polyendocrinopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0010013 MONDO:0005516 True schneckenbecken dysplasia osteochondrodysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0010013 MONDO:0015286 True schneckenbecken dysplasia congenital disorder of glycosylation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0010014 MONDO:0018230 True craniometadiaphyseal dysplasia, wormian bone type skeletal dysplasia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010015 MONDO:0019503 True anterior segment dysgenesis 7 anterior segment dysgenesis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0010016 MONDO:0017838 True sclerosteosis 1 sclerosteosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0010017 MONDO:0015531 True sea-blue histiocyte syndrome non-Langerhans cell histiocytosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0010017 MONDO:0019255 True sea-blue histiocyte syndrome sphingolipidosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0010020 MONDO:0006536 True congenital generalized lipodystrophy type 2 congenital generalized lipodystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED MONDO:0010023 MONDO:0021094 True combined immunodeficiency due to ZAP70 deficiency immunodeficiency disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0010024 MONDO:0018770 True Beemer-Langer syndrome Jeune syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0010030 MONDO:0002254 True Sjogren syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0010047 MONDO:0019064 True hereditary spastic paraplegia 5A hereditary spastic paraplegia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0010052 MONDO:0004983 True spermatogenic failure 4 spermatogenic failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0010075 MONDO:0019675 True spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures spondyloepimetaphyseal dysplasia with joint laxity UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0010079 MONDO:0019046 True Canavan disease leukodystrophy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS +MONDO:0010026 MONDO:0002254 True SHORT syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0010026 MONDO:0020087 True SHORT syndrome hereditary lipodystrophy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010027 MONDO:0019366 True free sialic acid storage disease, infantile form free sialic acid storage disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010027 MONDO:0800088 True free sialic acid storage disease, infantile form lysosomal storage disease with skeletal involvement UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010028 MONDO:0017736 True sialuria disorder of sialic acid metabolism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010029 MONDO:0018677 True situs inversus visceral heterotaxy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0010030 MONDO:0000586 True Sjogren syndrome autoimmune disorder of exocrine system UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0010031 MONDO:0006025 True Sjogren-Larsson syndrome autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0010031 MONDO:0018117 True Sjogren-Larsson syndrome disorder of phospholipids, sphingolipids and fatty acids biosynthesis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010033 MONDO:0019347 True generalized peeling skin syndrome peeling skin syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010035 MONDO:0015159 True Smith-Lemli-Opitz syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010038 MONDO:0015892 True growth delay due to insulin-like growth factor I resistance growth hormone insensitivity syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010039 MONDO:0015159 True congenital heart defect-round face-developmental delay syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010041 MONDO:0015244 True Charlevoix-Saguenay spastic ataxia autosomal recessive cerebellar ataxia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED +MONDO:0010041 MONDO:0017847 True Charlevoix-Saguenay spastic ataxia autosomal recessive spastic ataxia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010043 MONDO:0015087 True hereditary spastic paraplegia 17 autosomal dominant complex spastic paraplegia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010043 MONDO:0015362 True hereditary spastic paraplegia 17 neuronopathy, distal hereditary motor, autosomal dominant UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS +MONDO:0010044 MONDO:0015150 True hereditary spastic paraplegia 15 complex hereditary spastic paraplegia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010046 MONDO:0015150 True hereditary spastic paraplegia 23 complex hereditary spastic paraplegia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010047 MONDO:0019064 True hereditary spastic paraplegia 5A hereditary spastic paraplegia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0010049 MONDO:0015150 True spastic paraplegia-glaucoma-intellectual disability syndrome complex hereditary spastic paraplegia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010052 MONDO:0004983 True spermatogenic failure 4 spermatogenic failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0010053 MONDO:0019350 True hereditary spherocytosis type 3 hereditary spherocytosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0010056 MONDO:0019079 True spinal muscular atrophy, type IV proximal spinal muscular atrophy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010060 MONDO:0020046 True mitochondrial DNA depletion syndrome 7 (hepatocerebral type) autosomal recessive degenerative and progressive cerebellar ataxia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010060 MONDO:0100512 True mitochondrial DNA depletion syndrome 7 (hepatocerebral type) mitochondrial DNA depletion syndrome, hepatocerebral form UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010062 MONDO:0100309 True spinocerebellar ataxia-dysmorphism syndrome hereditary ataxia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010064 MONDO:0017847 True spastic ataxia-corneal dystrophy syndrome autosomal recessive spastic ataxia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010066 MONDO:0003778 True familial isolated congenital asplenia inborn error of immunity UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010068 MONDO:0100510 True spondyloepimetaphyseal dysplasia, sponastrime type spondyloepimetaphyseal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0010072 MONDO:0006025 True spondyloepiphyseal dysplasia tarda, autosomal recessive autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0010072 MONDO:0019667 True spondyloepiphyseal dysplasia tarda, autosomal recessive spondyloepiphyseal dysplasia tarda UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0010073 MONDO:0019667 True spondyloepiphyseal dysplasia tarda, Kohn type spondyloepiphyseal dysplasia tarda UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0010075 MONDO:0019675 True spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures spondyloepimetaphyseal dysplasia with joint laxity UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0010077 MONDO:0100510 True spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome spondyloepimetaphyseal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0010078 MONDO:0022800 True spondyloperipheral dysplasia type 2 collagenopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010079 MONDO:0017686 True Canavan disease inborn aminoacylase deficiency UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010079 MONDO:0019046 True Canavan disease leukodystrophy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED MONDO:0010080 MONDO:0003122 True familial infantile bilateral striatal necrosis striatonigral degeneration UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0010091 MONDO:0015526 True Cold-induced sweating syndrome 1 cold-induced sweating syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0010100 MONDO:0017720 True Tay-Sachs disease GM2 gangliosidosis SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0010080 MONDO:0015518 True familial infantile bilateral striatal necrosis infantile bilateral striatal necrosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010083 MONDO:0000698 True succinic semialdehyde dehydrogenase deficiency gamma-amino butyric acid metabolism disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0010087 MONDO:0019054 True Sugarman brachydactyly congenital limb malformation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010088 MONDO:0015327 True mucosulfatidosis developmental anomaly of metabolic origin UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010088 MONDO:0019255 True mucosulfatidosis sphingolipidosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0010088 MONDO:0800088 True mucosulfatidosis lysosomal storage disease with skeletal involvement UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010089 MONDO:0019358 True isolated sulfite oxidase deficiency encephalopathy due to sulfite oxidase deficiency UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010090 MONDO:0015338 True Summitt syndrome syndromic craniosynostosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010091 MONDO:0015526 True Cold-induced sweating syndrome 1 cold-induced sweating syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0010092 MONDO:0015159 True Filippi syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010094 MONDO:0005497 True spondylocarpotarsal synostosis syndrome bone development disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0010094 MONDO:0019690 True spondylocarpotarsal synostosis syndrome filamin-related bone disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010094 MONDO:0019694 True spondylocarpotarsal synostosis syndrome spondylodysplastic dysplasia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010095 MONDO:0100309 True ataxia-tapetoretinal degeneration syndrome hereditary ataxia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010099 MONDO:0017720 True Tay-Sachs disease AB variant GM2 gangliosidosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0010100 MONDO:0017720 True Tay-Sachs disease GM2 gangliosidosis SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0010100 MONDO:0020127 True Tay-Sachs disease hereditary peripheral neuropathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010100 MONDO:0020143 True Tay-Sachs disease cerebral lipidosis with dementia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0010101 MONDO:0019287 True Teebi-Shaltout syndrome ectodermal dysplasia syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0010108 MONDO:0018202 True testicular germ cell tumor gonadal germ cell tumor UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010108 MONDO:0021348 True testicular germ cell tumor neoplasm of testis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010110 MONDO:0015161 True tetraamelia-multiple malformations syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010110 MONDO:0018234 True tetraamelia-multiple malformations syndrome dysostosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0010110 MONDO:0019054 True tetraamelia-multiple malformations syndrome congenital limb malformation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010111 MONDO:0019287 True odontotrichomelic syndrome ectodermal dysplasia syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0010115 MONDO:0015929 True thoracic dysplasia-hydrocephalus syndrome thoracic malformation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010116 MONDO:0015929 True thoracomelic dysplasia thoracic malformation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010116 MONDO:0019691 True thoracomelic dysplasia short rib dysplasia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010117 MONDO:0007477 True 3M syndrome 1 3-M syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0010120 MONDO:0100241 True thrombocytopenia 3 inherited thrombocytopenia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0010121 MONDO:0002254 True thrombocytopenia-absent radius syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0010122 MONDO:0018896 True congenital thrombotic thrombocytopenic purpura thrombotic thrombocytopenic purpura UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010132 MONDO:0018612 True familial thyroid dyshormonogenesis congenital hypothyroidism UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0010134 MONDO:0018612 True Pendred syndrome congenital hypothyroidism UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0010121 MONDO:0002254 True thrombocytopenia-absent radius syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0010121 MONDO:0018234 True thrombocytopenia-absent radius syndrome dysostosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0010121 MONDO:0018795 True thrombocytopenia-absent radius syndrome syndromic constitutional thrombocytopenia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010121 MONDO:0019054 True thrombocytopenia-absent radius syndrome congenital limb malformation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010122 MONDO:0018896 True congenital thrombotic thrombocytopenic purpura thrombotic thrombocytopenic purpura UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010122 MONDO:0021181 True congenital thrombotic thrombocytopenic purpura inherited blood coagulation disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010125 MONDO:0015159 True upper limb defect-eye and ear abnormalities syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010129 MONDO:0015161 True thymic-renal-anal-lung dysplasia multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010130 MONDO:0019238 True dihydropyrimidine dehydrogenase deficiency inborn disorder of pyrimidine metabolism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0010132 MONDO:0018612 True familial thyroid dyshormonogenesis congenital hypothyroidism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0010133 MONDO:0010132 True thyroid dyshormonogenesis 2A familial thyroid dyshormonogenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0010134 MONDO:0002254 True Pendred syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0010134 MONDO:0006025 True Pendred syndrome autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0010134 MONDO:0018612 True Pendred syndrome congenital hypothyroidism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0010135 MONDO:0010132 True thyroid dyshormonogenesis 3 familial thyroid dyshormonogenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0010136 MONDO:0010132 True thyroid dyshormonogenesis 4 familial thyroid dyshormonogenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0010137 MONDO:0010132 True thyroid dyshormonogenesis 5 familial thyroid dyshormonogenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0010139 MONDO:0000045 True isolated thyroid-stimulating hormone deficiency hypothyroidism, congenital, nongoitrous UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0010140 MONDO:0016410 True isolated thyrotropin-releasing hormone deficiency central congenital hypothyroidism UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010139 MONDO:0016410 True isolated thyroid-stimulating hormone deficiency central congenital hypothyroidism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010139 MONDO:0019824 True isolated thyroid-stimulating hormone deficiency non-acquired pituitary hormone deficiency UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010140 MONDO:0016410 True isolated thyrotropin-releasing hormone deficiency central congenital hypothyroidism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010142 MONDO:0000045 True hypothyroidism due to TSH receptor mutations hypothyroidism, congenital, nongoitrous UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0010148 MONDO:0005087 True Mounier-Kuhn syndrome respiratory system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010150 MONDO:0002038 True head and neck squamous cell carcinoma head and neck carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0010150 MONDO:0005096 True head and neck squamous cell carcinoma squamous cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0010159 MONDO:0015356 True mismatch repair cancer syndrome 1 hereditary neoplastic syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010144 MONDO:0016240 True tibial hemimelia hemimelia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010149 MONDO:0000424 True transcobalamin II deficiency inborn vitamin B12 deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0010149 MONDO:0016624 True transcobalamin II deficiency inherited deficiency anemia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010149 MONDO:0019220 True transcobalamin II deficiency inborn disorder of cobalamin metabolism and transport UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010150 MONDO:0002038 True head and neck squamous cell carcinoma head and neck carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0010150 MONDO:0005096 True head and neck squamous cell carcinoma squamous cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0010152 MONDO:0019287 True trichomegaly-retina pigmentary degeneration-dwarfism syndrome ectodermal dysplasia syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS +MONDO:0010153 MONDO:0019287 True trichoodontoonychial dysplasia ectodermal dysplasia syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0010154 MONDO:0015161 True trigonocephaly-bifid nose-acral anomalies syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010155 MONDO:0015611 True Dorfman-Chanarin disease neutral lipid storage disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010156 MONDO:0015150 True Troyer syndrome complex hereditary spastic paraplegia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010159 MONDO:0031219 True mismatch repair cancer syndrome 1 mismatch repair cancer syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0010160 MONDO:0004741 True tyrosinemia type II tyrosinemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0010161 MONDO:0004741 True tyrosinemia type I tyrosinemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0010162 MONDO:0004741 True tyrosinemia type III tyrosinemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0010168 MONDO:0019501 True Usher syndrome type 1 Usher syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0010176 MONDO:0015375 True orofaciodigital syndrome type 6 orofaciodigital syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0010178 MONDO:0018801 True congenital bilateral aplasia of vas deferens from CFTR mutation congenital bilateral absence of vas deferens UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0010183 MONDO:0016826 True methylmalonic aciduria and homocystinuria type cblF methylmalonic aciduria and homocystinuria UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0010184 MONDO:0016826 True methylmalonic aciduria and homocystinuria type cblC methylmalonic aciduria and homocystinuria UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0010185 MONDO:0016826 True methylmalonic aciduria and homocystinuria type cblD methylmalonic aciduria and homocystinuria UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0010186 MONDO:0019642 True vitamin D-dependent rickets, type 2A vitamin D-dependent rickets, type 2 UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010187 MONDO:0015722 True vitamin K-dependent clotting factors, combined deficiency of, type 1 congenital vitamin K-dependent coagulation factors deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0010193 MONDO:0002254 True Weaver syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0010160 MONDO:0004741 True tyrosinemia type II tyrosinemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0010160 MONDO:0017672 True tyrosinemia type II focal palmoplantar keratoderma UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010161 MONDO:0004741 True tyrosinemia type I tyrosinemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0010162 MONDO:0004741 True tyrosinemia type III tyrosinemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0010164 MONDO:0018234 True phocomelia, Schinzel type dysostosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0010164 MONDO:0019054 True phocomelia, Schinzel type congenital limb malformation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010165 MONDO:0018234 True ulna hypoplasia-intellectual disability syndrome dysostosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010165 MONDO:0019054 True ulna hypoplasia-intellectual disability syndrome congenital limb malformation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010167 MONDO:0019228 True urocanic aciduria inborn disorder of histidine metabolism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0010168 MONDO:0019501 True Usher syndrome type 1 Usher syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0010169 MONDO:0016484 True Usher syndrome type 2A Usher syndrome type 2 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0010170 MONDO:0016485 True Usher syndrome type 3A Usher syndrome type 3 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0010171 MONDO:0010168 True Usher syndrome type 1C Usher syndrome type 1 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0010173 MONDO:0017771 True Mayer-Rokitansky-Kuster-Hauser syndrome type 1 Mayer-Rokitansky-Kuster-Hauser syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0010176 MONDO:0015375 True orofaciodigital syndrome type 6 orofaciodigital syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0010176 MONDO:0020022 True orofaciodigital syndrome type 6 central nervous system malformation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010178 MONDO:0018801 True congenital bilateral aplasia of vas deferens from CFTR mutation congenital bilateral absence of vas deferens UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0010179 MONDO:0020291 True isolated right ventricular hypoplasia hypoplastic right heart syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010180 MONDO:0017747 True autosomal recessive spondylocostal dysostosis disorder of fucoglycosan synthesis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010183 MONDO:0016826 True methylmalonic aciduria and homocystinuria type cblF methylmalonic aciduria and homocystinuria UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0010184 MONDO:0016826 True methylmalonic aciduria and homocystinuria type cblC methylmalonic aciduria and homocystinuria UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0010184 MONDO:0020127 True methylmalonic aciduria and homocystinuria type cblC hereditary peripheral neuropathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010185 MONDO:0016826 True methylmalonic aciduria and homocystinuria type cblD methylmalonic aciduria and homocystinuria UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0010187 MONDO:0015722 True vitamin K-dependent clotting factors, combined deficiency of, type 1 congenital vitamin K-dependent coagulation factors deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0010188 MONDO:0005528 True familial isolated deficiency of vitamin E inborn vitamin metabolic disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0010188 MONDO:0020044 True familial isolated deficiency of vitamin E autosomal recessive metabolic cerebellar ataxia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010188 MONDO:0020127 True familial isolated deficiency of vitamin E hereditary peripheral neuropathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010190 MONDO:0016759 True pontocerebellar hypoplasia type 2A pontocerebellar hypoplasia type 2 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0010191 MONDO:0019565 True von Willebrand disease 3 hereditary von Willebrand disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0010193 MONDO:0002254 True Weaver syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0010193 MONDO:0015159 True Weaver syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010193 MONDO:0018230 True Weaver syndrome skeletal dysplasia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010193 MONDO:0019716 True Weaver syndrome overgrowth syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010194 MONDO:0018096 True Weill-Marchesani syndrome 1 Weill-Marchesani syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0010196 MONDO:0002254 True Werner syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0010198 MONDO:0002254 True Wernicke-Korsakoff syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0010206 MONDO:0003037 True hypotrichosis 8 hypotrichosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0010209 MONDO:0018106 True xanthinuria type I hereditary xanthinuria UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0010210 MONDO:0019600 True xeroderma pigmentosum group A xeroderma pigmentosum UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0010211 MONDO:0019600 True xeroderma pigmentosum group C xeroderma pigmentosum UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0010212 MONDO:0019600 True xeroderma pigmentosum group D xeroderma pigmentosum UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0010213 MONDO:0019600 True xeroderma pigmentosum group E xeroderma pigmentosum UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0010214 MONDO:0019600 True xeroderma pigmentosum variant type xeroderma pigmentosum UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0010215 MONDO:0019600 True xeroderma pigmentosum group F xeroderma pigmentosum UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0010216 MONDO:0019600 True xeroderma pigmentosum group G xeroderma pigmentosum UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0010217 MONDO:0002254 True de Sanctis-Cacchione syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0010225 MONDO:0015612 True Dent disease type 1 Dent disease UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0010226 MONDO:0010765 True 46,XY sex reversal 2 46,XY complete gonadal dysgenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0010227 MONDO:0019200 True retinitis pigmentosa 3 retinitis pigmentosa UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0010196 MONDO:0002254 True Werner syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0010196 MONDO:0006025 True Werner syndrome autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0010196 MONDO:0015333 True Werner syndrome progeroid syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0010197 MONDO:0008675 True whistling face syndrome, recessive form Freeman-Sheldon syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED +MONDO:0010198 MONDO:0006873 True Wernicke-Korsakoff syndrome nutritional deficiency disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0010199 MONDO:0015161 True white forelock with malformations multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010200 MONDO:0004689 True Wilson disease inborn metal metabolism disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0010200 MONDO:0017762 True Wilson disease disorder of copper metabolism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010203 MONDO:0015159 True intellectual disability, Wolff type multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010206 MONDO:0003037 True hypotrichosis 8 hypotrichosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0010208 MONDO:0018163 True wrinkly skin syndrome autosomal recessive cutis laxa type 2A UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS +MONDO:0010209 MONDO:0018106 True xanthinuria type I hereditary xanthinuria UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0010210 MONDO:0019600 True xeroderma pigmentosum group A xeroderma pigmentosum UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0010211 MONDO:0019600 True xeroderma pigmentosum group C xeroderma pigmentosum UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0010212 MONDO:0019600 True xeroderma pigmentosum group D xeroderma pigmentosum UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0010213 MONDO:0019600 True xeroderma pigmentosum group E xeroderma pigmentosum UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0010214 MONDO:0019600 True xeroderma pigmentosum variant type xeroderma pigmentosum UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0010215 MONDO:0019600 True xeroderma pigmentosum group F xeroderma pigmentosum UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0010216 MONDO:0019600 True xeroderma pigmentosum group G xeroderma pigmentosum UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0010217 MONDO:0002254 True de Sanctis-Cacchione syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0010217 MONDO:0003847 True de Sanctis-Cacchione syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0010218 MONDO:0100249 True 46,XX sex reversal 2 46,XX testicular disorder of sex development UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0010221 MONDO:0015159 True CHIME syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010221 MONDO:0015327 True CHIME syndrome developmental anomaly of metabolic origin UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010221 MONDO:0017748 True CHIME syndrome inborn disorder of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010221 MONDO:0019287 True CHIME syndrome ectodermal dysplasia syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS +MONDO:0010224 MONDO:0002254 True corpus callosum agenesis-abnormal genitalia syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0010224 MONDO:0003847 True corpus callosum agenesis-abnormal genitalia syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0010225 MONDO:0015612 True Dent disease type 1 Dent disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0010226 MONDO:0010765 True 46,XY sex reversal 2 46,XY complete gonadal dysgenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0010227 MONDO:0019200 True retinitis pigmentosa 3 retinitis pigmentosa UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0010228 MONDO:0019586 True hearing loss, X-linked 3 X-linked nonsyndromic hearing loss UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0010229 MONDO:0000005 True alopecia, congenital alopecia, isolated UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0010230 MONDO:0019181 True intellectual disability, X-linked 23 non-syndromic X-linked intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0010231 MONDO:0019181 True intellectual disability, X-linked 20 non-syndromic X-linked intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0010230 MONDO:0019181 True intellectual disability, X-linked 23 non-syndromic X-linked intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0010231 MONDO:0019181 True intellectual disability, X-linked 20 non-syndromic X-linked intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0010232 MONDO:0003847 True intestinal pseudoobstruction, neuronal, chronic idiopathic, X-linked hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0010233 MONDO:0020341 True heterotopia, periventricular, X-linked dominant periventricular nodular heterotopia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0010235 MONDO:0020119 True X-linked intellectual disability-psychosis-macroorchidism syndrome X-linked syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0010236 MONDO:0019181 True intellectual disability, X-linked 14 non-syndromic X-linked intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0010246 MONDO:0100062 True developmental and epileptic encephalopathy, 9 developmental and epileptic encephalopathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0010250 MONDO:0020119 True intellectual disability, X-linked 49 X-linked syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0010251 MONDO:0019181 True intellectual disability, X-linked 50 non-syndromic X-linked intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0010235 MONDO:0020119 True X-linked intellectual disability-psychosis-macroorchidism syndrome X-linked syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0010236 MONDO:0019181 True intellectual disability, X-linked 14 non-syndromic X-linked intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0010237 MONDO:0015159 True X-linked intellectual disability-plagiocephaly syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010237 MONDO:0015338 True X-linked intellectual disability-plagiocephaly syndrome syndromic craniosynostosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010238 MONDO:0019586 True hearing loss, X-linked 4 X-linked nonsyndromic hearing loss UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0010239 MONDO:0015146 True lissencephaly type 1 due to doublecortin gene mutation classic lissencephaly UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010242 MONDO:0008824 True fetal akinesia syndrome, X-linked fetal akinesia deformation sequence UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED +MONDO:0010243 MONDO:0003778 True X-linked immunoneurologic disorder inborn error of immunity UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010246 MONDO:0016160 True developmental and epileptic encephalopathy, 9 X-linked intellectual disability-epilepsy syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010246 MONDO:0100062 True developmental and epileptic encephalopathy, 9 developmental and epileptic encephalopathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0010247 MONDO:0018544 True X-linked cerebral adrenoleukodystrophy adrenoleukodystrophy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010250 MONDO:0020119 True intellectual disability, X-linked 49 X-linked syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0010251 MONDO:0019181 True intellectual disability, X-linked 50 non-syndromic X-linked intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED MONDO:0010253 MONDO:0100246 True migraine, familial typical, susceptibility to, 2 migraine with or without aura, susceptibility to UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0010256 MONDO:0019181 True intellectual disability, X-linked 21 non-syndromic X-linked intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0010258 MONDO:0020119 True MEHMO syndrome X-linked syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0010259 MONDO:0019200 True retinitis pigmentosa 24 retinitis pigmentosa UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0010261 MONDO:0016073 True microphthalmia, syndromic 2 syndromic microphthalmia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0010264 MONDO:0016241 True X-linked adrenal hypoplasia congenita alternating hemiplegia of childhood UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS -MONDO:0010266 MONDO:0019181 True intellectual disability, X-linked 58 non-syndromic X-linked intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0010268 MONDO:0018838 True X-linked lissencephaly with abnormal genitalia lissencephaly spectrum disorders UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0010270 MONDO:0020119 True syndromic X-linked intellectual disability 7 X-linked syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0010277 MONDO:0020119 True syndromic X-linked intellectual disability Shashi type X-linked syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0010281 MONDO:0002412 True Danon disease disorder of glycogen metabolism UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS -MONDO:0010283 MONDO:0020119 True syndromic X-linked intellectual disability Lubs type X-linked syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0010285 MONDO:0020119 True syndromic X-linked intellectual disability Abidi type X-linked syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0010286 MONDO:0020119 True syndromic X-linked intellectual disability Siderius type X-linked syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0010287 MONDO:0019064 True hereditary spastic paraplegia 16 hereditary spastic paraplegia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0010289 MONDO:0019181 True intellectual disability, X-linked 72 non-syndromic X-linked intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0010256 MONDO:0019181 True intellectual disability, X-linked 21 non-syndromic X-linked intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0010258 MONDO:0020119 True MEHMO syndrome X-linked syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0010259 MONDO:0019200 True retinitis pigmentosa 24 retinitis pigmentosa UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0010261 MONDO:0016073 True microphthalmia, syndromic 2 syndromic microphthalmia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0010263 MONDO:0002254 True Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0010264 MONDO:0000425 True X-linked adrenal hypoplasia congenita X-linked disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0010264 MONDO:0015129 True X-linked adrenal hypoplasia congenita chronic primary adrenal insufficiency UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS +MONDO:0010264 MONDO:0015770 True X-linked adrenal hypoplasia congenita congenital hypogonadotropic hypogonadism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010265 MONDO:0003847 True Simpson-Golabi-Behmel syndrome type 2 hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0010266 MONDO:0019181 True intellectual disability, X-linked 58 non-syndromic X-linked intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0010268 MONDO:0000425 True X-linked lissencephaly with abnormal genitalia X-linked disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0010268 MONDO:0018838 True X-linked lissencephaly with abnormal genitalia lissencephaly spectrum disorders UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0010269 MONDO:0004348 True Coats disease retinal telangiectasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0010270 MONDO:0015159 True syndromic X-linked intellectual disability 7 multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010270 MONDO:0020119 True syndromic X-linked intellectual disability 7 X-linked syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0010271 MONDO:0017007 True X-linked myotubular myopathy-abnormal genitalia syndrome partial deletion of the long arm of chromosome X UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010271 MONDO:0020040 True X-linked myotubular myopathy-abnormal genitalia syndrome 46,XY disorder of sex development UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010277 MONDO:0015159 True syndromic X-linked intellectual disability Shashi type multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010277 MONDO:0020119 True syndromic X-linked intellectual disability Shashi type X-linked syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0010278 MONDO:0003847 True Christianson syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0010279 MONDO:0019690 True terminal osseous dysplasia-pigmentary defects syndrome filamin-related bone disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010279 MONDO:0019695 True terminal osseous dysplasia-pigmentary defects syndrome acromelic dysplasia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010281 MONDO:0002412 True Danon disease disorder of glycogen metabolism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS +MONDO:0010281 MONDO:0017738 True Danon disease lysosomal glycogen storage disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010283 MONDO:0015159 True syndromic X-linked intellectual disability Lubs type multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010283 MONDO:0017010 True syndromic X-linked intellectual disability Lubs type partial duplication of the long arm of chromosome X UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010283 MONDO:0020119 True syndromic X-linked intellectual disability Lubs type X-linked syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0010285 MONDO:0015159 True syndromic X-linked intellectual disability Abidi type multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010285 MONDO:0020119 True syndromic X-linked intellectual disability Abidi type X-linked syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0010286 MONDO:0015159 True syndromic X-linked intellectual disability Siderius type multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010286 MONDO:0020119 True syndromic X-linked intellectual disability Siderius type X-linked syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0010287 MONDO:0019064 True hereditary spastic paraplegia 16 hereditary spastic paraplegia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0010289 MONDO:0019181 True intellectual disability, X-linked 72 non-syndromic X-linked intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED MONDO:0010290 MONDO:0000334 True goiter, multinodular 2 multinodular goiter UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0010294 MONDO:0018542 True X-linked severe congenital neutropenia severe congenital neutropenia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0010293 MONDO:0003778 True ectodermal dysplasia and immune deficiency inborn error of immunity UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0010294 MONDO:0000425 True X-linked severe congenital neutropenia X-linked disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0010294 MONDO:0018542 True X-linked severe congenital neutropenia severe congenital neutropenia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0010295 MONDO:0017198 True anhidrotic ectodermal dysplasia-immunodeficiency-osteopetrosis-lymphedema syndrome osteopetrosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010295 MONDO:0019287 True anhidrotic ectodermal dysplasia-immunodeficiency-osteopetrosis-lymphedema syndrome ectodermal dysplasia syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010296 MONDO:0015977 True immunodeficiency 61 agammaglobulinemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0010297 MONDO:0002010 True FG syndrome 2 FG syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0010298 MONDO:0002254 True Lesch-Nyhan syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0010300 MONDO:0019181 True intellectual disability, X-linked 53 non-syndromic X-linked intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0010305 MONDO:0000456 True creatine transporter deficiency cerebral creatine deficiency syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0010306 MONDO:0020119 True X-linked intellectual disability, Cabezas type X-linked syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0010307 MONDO:0019181 True intellectual disability, X-linked 73 non-syndromic X-linked intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0010309 MONDO:0019181 True intellectual disability, X-linked 42 non-syndromic X-linked intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0010311 MONDO:0020121 True Becker muscular dystrophy muscular dystrophy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0010313 MONDO:0019181 True intellectual disability, X-linked 63 non-syndromic X-linked intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0010316 MONDO:0002010 True FG syndrome 3 FG syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0010317 MONDO:0019181 True intellectual disability, X-linked, with or without seizures, arx-related non-syndromic X-linked intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0010318 MONDO:0002010 True FG syndrome 4 FG syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0010320 MONDO:0019200 True retinitis pigmentosa 23 retinitis pigmentosa UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0010298 MONDO:0016088 True Lesch-Nyhan syndrome hypoxanthine-guanine phosphoribosyltransferase deficiency UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010299 MONDO:0016088 True hypoxanthine guanine phosphoribosyltransferase partial deficiency hypoxanthine-guanine phosphoribosyltransferase deficiency UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010300 MONDO:0019181 True intellectual disability, X-linked 53 non-syndromic X-linked intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0010305 MONDO:0000456 True creatine transporter deficiency cerebral creatine deficiency syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0010305 MONDO:0015159 True creatine transporter deficiency multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010306 MONDO:0015159 True X-linked intellectual disability, Cabezas type multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010306 MONDO:0020119 True X-linked intellectual disability, Cabezas type X-linked syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0010307 MONDO:0019181 True intellectual disability, X-linked 73 non-syndromic X-linked intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0010309 MONDO:0019181 True intellectual disability, X-linked 42 non-syndromic X-linked intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0010310 MONDO:0017198 True osteopathia striata with cranial sclerosis osteopetrosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0010311 MONDO:0020121 True Becker muscular dystrophy muscular dystrophy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0010313 MONDO:0019181 True intellectual disability, X-linked 63 non-syndromic X-linked intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0010315 MONDO:0031520 True T-B+ severe combined immunodeficiency due to gamma chain deficiency familial severe combined immunodeficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0010315 MONDO:0044200 True T-B+ severe combined immunodeficiency due to gamma chain deficiency T-B+ severe combined immunodeficiency UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010317 MONDO:0019181 True intellectual disability, X-linked, with or without seizures, arx-related non-syndromic X-linked intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0010319 MONDO:0016160 True syndromic X-linked intellectual disability Hedera type X-linked intellectual disability-epilepsy syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010320 MONDO:0019200 True retinitis pigmentosa 23 retinitis pigmentosa UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED MONDO:0010321 MONDO:0020836 True autism, susceptibility to, X-linked 1 autism, susceptiblity to UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0010322 MONDO:0019181 True intellectual disability, X-linked 2 non-syndromic X-linked intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0010324 MONDO:0019181 True intellectual disability, X-linked 81 non-syndromic X-linked intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0010325 MONDO:0020119 True X-linked intellectual disability, Stocco dos Santos type X-linked syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0010326 MONDO:0019181 True intellectual disability, X-linked 46 non-syndromic X-linked intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0010329 MONDO:0019181 True intellectual disability, X-linked 77 non-syndromic X-linked intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0010333 MONDO:0020119 True corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome X-linked syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0010336 MONDO:0015375 True orofaciodigital syndrome VIII orofaciodigital syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0010337 MONDO:0020119 True X-linked intellectual disability-cerebellar hypoplasia syndrome X-linked syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0010322 MONDO:0019181 True intellectual disability, X-linked 2 non-syndromic X-linked intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0010324 MONDO:0019181 True intellectual disability, X-linked 81 non-syndromic X-linked intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0010325 MONDO:0020119 True X-linked intellectual disability, Stocco dos Santos type X-linked syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0010326 MONDO:0019181 True intellectual disability, X-linked 46 non-syndromic X-linked intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0010328 MONDO:0002254 True alpha-thalassemia-myelodysplastic syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0010328 MONDO:0005570 True alpha-thalassemia-myelodysplastic syndrome hematologic disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0010329 MONDO:0019181 True intellectual disability, X-linked 77 non-syndromic X-linked intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0010332 MONDO:0015159 True X-linked intellectual disability-cubitus valgus-dysmorphism syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010333 MONDO:0020119 True corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome X-linked syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0010334 MONDO:0044807 True severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome inherited dystonia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0010336 MONDO:0015375 True orofaciodigital syndrome VIII orofaciodigital syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0010337 MONDO:0020022 True X-linked intellectual disability-cerebellar hypoplasia syndrome central nervous system malformation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010337 MONDO:0020119 True X-linked intellectual disability-cerebellar hypoplasia syndrome X-linked syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0010338 MONDO:0000425 True X-linked distal spinal muscular atrophy type 3 X-linked disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0010338 MONDO:0001516 True X-linked distal spinal muscular atrophy type 3 spinal muscular atrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0010338 MONDO:0018894 True X-linked distal spinal muscular atrophy type 3 distal hereditary motor neuropathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010339 MONDO:0859390 True epilepsy, X-linked 1, with variable learning disabilities and behavior disorders epilepsy, X-linked, with or without impaired intellectual development and dysmorphic features UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0010341 MONDO:0020836 True autism, susceptibility to, X-linked 2 autism, susceptiblity to UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0010342 MONDO:0020836 True autism, susceptibility to, X-linked 3 autism, susceptiblity to UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0010344 MONDO:0019181 True intellectual disability, X-linked 45 non-syndromic X-linked intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0010347 MONDO:0019181 True intellectual disability, X-linked 84 non-syndromic X-linked intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0010349 MONDO:0009299 True ovarian dysgenesis 2 46 XX gonadal dysgenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0010344 MONDO:0019181 True intellectual disability, X-linked 45 non-syndromic X-linked intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0010347 MONDO:0019181 True intellectual disability, X-linked 84 non-syndromic X-linked intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0010349 MONDO:0009299 True ovarian dysgenesis 2 46 XX gonadal dysgenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED MONDO:0010350 MONDO:0019852 True premature ovarian failure 2A inherited primary ovarian failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0010351 MONDO:0019391 True Fanconi anemia complementation group B Fanconi anemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0010352 MONDO:0019181 True intellectual disability, X-linked 82 non-syndromic X-linked intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0010355 MONDO:0020119 True syndromic X-linked intellectual disability Claes-Jensen type X-linked syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0010359 MONDO:0015612 True Dent disease type 2 Dent disease UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0010361 MONDO:0019181 True intellectual disability, X-linked 30 non-syndromic X-linked intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0010363 MONDO:0019181 True intellectual disability, X-linked 91 non-syndromic X-linked intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0010366 MONDO:0002010 True FG syndrome 5 FG syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0010369 MONDO:0005712 True nystagmus 5, congenital, X-linked congenital nystagmus UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0010370 MONDO:0016033 True Cornelia de Lange syndrome 2 Cornelia de Lange syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0010351 MONDO:0019391 True Fanconi anemia complementation group B Fanconi anemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0010352 MONDO:0019181 True intellectual disability, X-linked 82 non-syndromic X-linked intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0010355 MONDO:0015159 True syndromic X-linked intellectual disability Claes-Jensen type multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010355 MONDO:0020119 True syndromic X-linked intellectual disability Claes-Jensen type X-linked syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0010356 MONDO:0015962 True nephrogenic syndrome of inappropriate antidiuresis inherited renal tubular disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010358 MONDO:0020605 True hypophosphatemic rickets, X-linked recessive X-linked recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0010359 MONDO:0015612 True Dent disease type 2 Dent disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0010361 MONDO:0019181 True intellectual disability, X-linked 30 non-syndromic X-linked intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0010362 MONDO:0002412 True glycogen storage disease IXd disorder of glycogen metabolism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0010363 MONDO:0019181 True intellectual disability, X-linked 91 non-syndromic X-linked intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0010364 MONDO:0017004 True X-linked intellectual disability-retinitis pigmentosa syndrome partial monosomy of the short arm of chromosome X UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010365 MONDO:0009711 True myopathy, congenital, with fiber-type disproportion, X-linked congenital fiber-type disproportion myopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0010367 MONDO:0018230 True SHOX-related short stature skeletal dysplasia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010369 MONDO:0005712 True nystagmus 5, congenital, X-linked congenital nystagmus UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0010370 MONDO:0016033 True Cornelia de Lange syndrome 2 Cornelia de Lange syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0010371 MONDO:0000425 True Aland island eye disease X-linked disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0010373 MONDO:0019852 True premature ovarian failure 2B inherited primary ovarian failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0010374 MONDO:0019200 True retinitis pigmentosa 34 retinitis pigmentosa UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0010375 MONDO:0100062 True developmental and epileptic encephalopathy, 8 developmental and epileptic encephalopathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0010374 MONDO:0019200 True retinitis pigmentosa 34 retinitis pigmentosa UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0010375 MONDO:0016160 True developmental and epileptic encephalopathy, 8 X-linked intellectual disability-epilepsy syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010375 MONDO:0100062 True developmental and epileptic encephalopathy, 8 developmental and epileptic encephalopathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED MONDO:0010377 MONDO:0001384 True myopia 13, X-linked myopia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0010378 MONDO:0015364 True X-linked hereditary sensory and autonomic neuropathy with hearing loss hereditary sensory and autonomic neuropathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS MONDO:0010378 MONDO:0021944 True X-linked hereditary sensory and autonomic neuropathy with hearing loss auditory neuropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0010382 MONDO:0002254 True fragile X-associated tremor/ataxia syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0010383 MONDO:0002254 True fragile X syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0010383 MONDO:0003847 True fragile X syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0010379 MONDO:0004736 True Brunner syndrome inborn disorder of amino acid metabolism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0010379 MONDO:0019219 True Brunner syndrome inborn disorder of neurotransmitter metabolism and transport UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010379 MONDO:0020605 True Brunner syndrome X-linked recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0010382 MONDO:0016612 True fragile X-associated tremor/ataxia syndrome X-linked cerebellar ataxia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0010383 MONDO:0002254 True fragile X syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0010383 MONDO:0003847 True fragile X syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0010384 MONDO:0005345 True hypospadias 1, X-linked hypospadias UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0010385 MONDO:0010627 True X-linked lymphoproliferative disease due to XIAP deficiency X-linked lymphoproliferative syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0010393 MONDO:0019181 True intellectual disability, X-linked 93 non-syndromic X-linked intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0010396 MONDO:0100062 True developmental and epileptic encephalopathy, 2 developmental and epileptic encephalopathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0010398 MONDO:0020119 True syndromic X-linked intellectual disability 14 X-linked syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0010402 MONDO:0020119 True syndromic X-linked intellectual disability 94 X-linked syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0010406 MONDO:0019181 True chromosome Xp11.22 duplication syndrome non-syndromic X-linked intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0010407 MONDO:0020119 True intellectual disability, X-linked syndromic, Turner type X-linked syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0010409 MONDO:0020119 True syndromic X-linked intellectual disability Shrimpton type X-linked syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0010385 MONDO:0010627 True X-linked lymphoproliferative disease due to XIAP deficiency X-linked lymphoproliferative syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0010385 MONDO:0020605 True X-linked lymphoproliferative disease due to XIAP deficiency X-linked recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0010386 MONDO:0003778 True immunodeficiency 33 inborn error of immunity UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0010389 MONDO:0017905 True X-linked Mendelian susceptibility to mycobacterial diseases due to CYBB deficiency X-linked Mendelian susceptibility to mycobacterial diseases UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010390 MONDO:0017304 True ocular albinism with late-onset sensorineural deafness ocular albinism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010392 MONDO:0002412 True glycogen storage disease due to phosphoglycerate kinase 1 deficiency disorder of glycogen metabolism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS +MONDO:0010393 MONDO:0019181 True intellectual disability, X-linked 93 non-syndromic X-linked intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0010395 MONDO:0019236 True phosphoribosylpyrophosphate synthetase superactivity inborn disorder of purine metabolism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010396 MONDO:0100062 True developmental and epileptic encephalopathy, 2 developmental and epileptic encephalopathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0010397 MONDO:0015653 True severe neonatal-onset encephalopathy with microcephaly monogenic epilepsy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010397 MONDO:0020070 True severe neonatal-onset encephalopathy with microcephaly neonatal epilepsy syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010398 MONDO:0020119 True syndromic X-linked intellectual disability 14 X-linked syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0010399 MONDO:0010613 True chromosome Xp21 deletion syndrome inborn glycerol kinase deficiency UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS +MONDO:0010399 MONDO:0017004 True chromosome Xp21 deletion syndrome partial monosomy of the short arm of chromosome X UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010402 MONDO:0020119 True syndromic X-linked intellectual disability 94 X-linked syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0010403 MONDO:0019290 True albinism-hearing loss syndrome hypopigmentation of the skin UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010404 MONDO:0016612 True X-linked non progressive cerebellar ataxia X-linked cerebellar ataxia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0010406 MONDO:0019181 True chromosome Xp11.22 duplication syndrome non-syndromic X-linked intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0010407 MONDO:0020119 True intellectual disability, X-linked syndromic, Turner type X-linked syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0010408 MONDO:0002254 True syndactyly-telecanthus-anogenital and renal malformations syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0010408 MONDO:0015161 True syndactyly-telecanthus-anogenital and renal malformations syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010408 MONDO:0019054 True syndactyly-telecanthus-anogenital and renal malformations syndrome congenital limb malformation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010409 MONDO:0020119 True syndromic X-linked intellectual disability Shrimpton type X-linked syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED MONDO:0010410 MONDO:0000005 True alopecia, androgenetic, 2 alopecia, isolated UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0010411 MONDO:0100239 True pyloric stenosis, infantile hypertrophic, 4 inherited hypertrophic pyloric stenosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0010413 MONDO:0019181 True intellectual disability, X-linked 95 non-syndromic X-linked intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0010417 MONDO:0020119 True syndromic X-linked intellectual disability Najm type X-linked syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0010417 MONDO:0020022 True syndromic X-linked intellectual disability Najm type central nervous system malformation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010417 MONDO:0020119 True syndromic X-linked intellectual disability Najm type X-linked syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0010418 MONDO:0015149 True hereditary spastic paraplegia 34 pure hereditary spastic paraplegia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010420 MONDO:0001676 True X-linked erythropoietic protoporphyria erythropoietic protoporphyria UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0010421 MONDO:0016462 True Bruton-type agammaglobulinemia isolated agammaglobulinemia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010422 MONDO:0004975 True Alzheimer disease 16 Alzheimer disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0010423 MONDO:0005345 True hypospadias 2, X-linked hypospadias UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0010424 MONDO:0012580 True surfactant metabolism dysfunction, pulmonary, 4 hereditary pulmonary alveolar proteinosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0010427 MONDO:0020119 True syndromic X-linked intellectual disability Raymond type X-linked syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0010429 MONDO:0019181 True intellectual disability, X-linked 96 non-syndromic X-linked intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0010430 MONDO:0019181 True intellectual disability, X-linked 97 non-syndromic X-linked intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0010431 MONDO:0018772 True Joubert syndrome 10 Joubert syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0010425 MONDO:0000763 True Lisch epithelial corneal dystrophy epithelial and subepithelial corneal dystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0010425 MONDO:0020212 True Lisch epithelial corneal dystrophy superficial corneal dystrophy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010426 MONDO:0000766 True X-linked endothelial corneal dystrophy corneal endothelial dystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0010426 MONDO:0020214 True X-linked endothelial corneal dystrophy posterior corneal dystrophy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010427 MONDO:0020119 True syndromic X-linked intellectual disability Raymond type X-linked syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0010428 MONDO:0015159 True chromosome Xp11.23-p11.22 duplication syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010428 MONDO:0017009 True chromosome Xp11.23-p11.22 duplication syndrome partial duplication of the short arm of chromosome X UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010429 MONDO:0019181 True intellectual disability, X-linked 96 non-syndromic X-linked intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0010430 MONDO:0019181 True intellectual disability, X-linked 97 non-syndromic X-linked intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0010431 MONDO:0018772 True Joubert syndrome 10 Joubert syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED MONDO:0010432 MONDO:0100240 True thrombophilia, X-linked, due to factor 9 defect inherited thrombophilia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0010434 MONDO:0018078 True synovial sarcoma soft tissue sarcoma UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010435 MONDO:0005712 True nystagmus 6, congenital, X-linked congenital nystagmus UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0010437 MONDO:0000732 True severe X-linked mitochondrial encephalomyopathy combined oxidative phosphorylation deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0010434 MONDO:0018078 True synovial sarcoma soft tissue sarcoma UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010435 MONDO:0005712 True nystagmus 6, congenital, X-linked congenital nystagmus UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0010437 MONDO:0000732 True severe X-linked mitochondrial encephalomyopathy combined oxidative phosphorylation deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED MONDO:0010438 MONDO:0100244 True paroxysmal nocturnal hemoglobinuria 1 paroxysmal nocturnal hemoglobinuria UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0010440 MONDO:0020836 True autism, susceptibility to, X-linked 4 autism, susceptiblity to UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0010447 MONDO:0019181 True intellectual disability, X-linked 19 non-syndromic X-linked intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0010441 MONDO:0003847 True CK syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0010442 MONDO:0100249 True 46,XX sex reversal 3 46,XX testicular disorder of sex development UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0010444 MONDO:0019403 True X-linked dyserythropoetic anemia with abnormal platelets and neutropenia congenital dyserythropoietic anemia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS +MONDO:0010447 MONDO:0019181 True intellectual disability, X-linked 19 non-syndromic X-linked intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED MONDO:0010448 MONDO:0016820 True moyamoya angiopathy-short stature-facial dysmorphism-hypergonadotropic hypogonadism syndrome Moyamoya disease UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0010449 MONDO:0020836 True autism, susceptibility to, X-linked 5 autism, susceptiblity to UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0010450 MONDO:0019181 True intellectual disability, X-linked 89 non-syndromic X-linked intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0010451 MONDO:0019181 True intellectual disability, X-linked 41 non-syndromic X-linked intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0010452 MONDO:0019181 True intellectual disability, X-linked 90 non-syndromic X-linked intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0010453 MONDO:0019181 True intellectual disability, X-linked 92 non-syndromic X-linked intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0010454 MONDO:0019181 True intellectual disability, X-linked 88 non-syndromic X-linked intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0010450 MONDO:0019181 True intellectual disability, X-linked 89 non-syndromic X-linked intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0010451 MONDO:0019181 True intellectual disability, X-linked 41 non-syndromic X-linked intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0010452 MONDO:0019181 True intellectual disability, X-linked 90 non-syndromic X-linked intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0010453 MONDO:0019181 True intellectual disability, X-linked 92 non-syndromic X-linked intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0010454 MONDO:0019181 True intellectual disability, X-linked 88 non-syndromic X-linked intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0010455 MONDO:0015131 True X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia combined immunodeficiency UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0010457 MONDO:0015333 True Ogden syndrome progeroid syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0010458 MONDO:0005345 True hypospadias 4, X-linked hypospadias UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0010459 MONDO:0005144 True amyotrophic lateral sclerosis type 15 familial amyotrophic lateral sclerosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0010460 MONDO:0020119 True syndromic X-linked intellectual disability 17 X-linked syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0010461 MONDO:0020119 True syndromic X-linked intellectual disability Nascimento type X-linked syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0010462 MONDO:0020119 True syndromic X-linked intellectual disability Chudley-Schwartz type X-linked syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0010460 MONDO:0020119 True syndromic X-linked intellectual disability 17 X-linked syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0010461 MONDO:0020119 True syndromic X-linked intellectual disability Nascimento type X-linked syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0010462 MONDO:0020119 True syndromic X-linked intellectual disability Chudley-Schwartz type X-linked syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0010463 MONDO:0002254 True X-linked dominant chondrodysplasia, Chassaing-Lacombe type syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0010463 MONDO:0003847 True X-linked dominant chondrodysplasia, Chassaing-Lacombe type hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0010464 MONDO:0020022 True X-linked cerebral-cerebellar-coloboma syndrome syndrome central nervous system malformation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010465 MONDO:0016512 True Kabuki syndrome 2 Kabuki syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0010466 MONDO:0015327 True multiple congenital anomalies-hypotonia-seizures syndrome 2 developmental anomaly of metabolic origin UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010466 MONDO:0017748 True multiple congenital anomalies-hypotonia-seizures syndrome 2 inborn disorder of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010466 MONDO:0100062 True multiple congenital anomalies-hypotonia-seizures syndrome 2 developmental and epileptic encephalopathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0010466 MONDO:0100247 True multiple congenital anomalies-hypotonia-seizures syndrome 2 multiple congenital anomalies-hypotonia-seizures syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0010468 MONDO:0016483 True aneurysm, intracranial berry, 5 intracranial berry aneurysm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0010466 MONDO:0100247 True multiple congenital anomalies-hypotonia-seizures syndrome 2 multiple congenital anomalies-hypotonia-seizures syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0010467 MONDO:0017010 True Xq27.3q28 duplication syndrome partial duplication of the long arm of chromosome X UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010468 MONDO:0016483 True aneurysm, intracranial berry, 5 intracranial berry aneurysm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED MONDO:0010469 MONDO:0020836 True epsilon-trimethyllysine hydroxylase deficiency autism, susceptiblity to UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0010471 MONDO:0016033 True Cornelia de Lange syndrome 5 Cornelia de Lange syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0010471 MONDO:0016033 True Cornelia de Lange syndrome 5 Cornelia de Lange syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED MONDO:0010472 MONDO:0005500 True developmental and epileptic encephalopathy, 36 congenital disorder of glycosylation type I UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0010472 MONDO:0100062 True developmental and epileptic encephalopathy, 36 developmental and epileptic encephalopathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0010473 MONDO:0020119 True X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome X-linked syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0010474 MONDO:0010672 True linear skin defects with multiple congenital anomalies 2 linear skin defects with multiple congenital anomalies UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0010475 MONDO:0002254 True X-linked central congenital hypothyroidism with late-onset testicular enlargement syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0010476 MONDO:0018307 True neurodegeneration with brain iron accumulation 5 neurodegeneration with brain iron accumulation UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0010478 MONDO:0005501 True SLC35A2-congenital disorder of glycosylation congenital disorder of glycosylation type II UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0010485 MONDO:0016073 True X-linked colobomatous microphthalmia-microcephaly-intellectual disability-short stature syndrome syndromic microphthalmia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0010486 MONDO:0031421 True Olmsted syndrome, X-linked Olmsted syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0010487 MONDO:0019181 True intellectual disability, X-linked 99 non-syndromic X-linked intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0010488 MONDO:0019181 True intellectual disability, X-linked 100 non-syndromic X-linked intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0010489 MONDO:0019181 True intellectual disability, X-linked 101 non-syndromic X-linked intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0010490 MONDO:0005500 True SSR4-congenital disorder of glycosylation congenital disorder of glycosylation type I UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0010472 MONDO:0017740 True developmental and epileptic encephalopathy, 36 disorder of protein N-glycosylation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010472 MONDO:0100062 True developmental and epileptic encephalopathy, 36 developmental and epileptic encephalopathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0010473 MONDO:0020119 True X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome X-linked syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0010474 MONDO:0010672 True linear skin defects with multiple congenital anomalies 2 linear skin defects with multiple congenital anomalies UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0010475 MONDO:0000425 True X-linked central congenital hypothyroidism with late-onset testicular enlargement X-linked disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0010475 MONDO:0002254 True X-linked central congenital hypothyroidism with late-onset testicular enlargement syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0010475 MONDO:0016410 True X-linked central congenital hypothyroidism with late-onset testicular enlargement central congenital hypothyroidism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010476 MONDO:0018307 True neurodegeneration with brain iron accumulation 5 neurodegeneration with brain iron accumulation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0010478 MONDO:0005501 True SLC35A2-congenital disorder of glycosylation congenital disorder of glycosylation type II UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0010478 MONDO:0015327 True SLC35A2-congenital disorder of glycosylation developmental anomaly of metabolic origin UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010478 MONDO:0017749 True SLC35A2-congenital disorder of glycosylation disorder of multiple glycosylation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010479 MONDO:0018994 True Charcot-Marie-Tooth disease X-linked dominant 6 Charcot-Marie-Tooth disease type X UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0010484 MONDO:0019586 True hearing loss, X-linked 6 X-linked nonsyndromic hearing loss UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0010485 MONDO:0000425 True X-linked colobomatous microphthalmia-microcephaly-intellectual disability-short stature syndrome X-linked disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0010485 MONDO:0015159 True X-linked colobomatous microphthalmia-microcephaly-intellectual disability-short stature syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010485 MONDO:0016073 True X-linked colobomatous microphthalmia-microcephaly-intellectual disability-short stature syndrome syndromic microphthalmia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0010486 MONDO:0031421 True Olmsted syndrome, X-linked Olmsted syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0010487 MONDO:0019181 True intellectual disability, X-linked 99 non-syndromic X-linked intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0010488 MONDO:0019181 True intellectual disability, X-linked 100 non-syndromic X-linked intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0010489 MONDO:0019181 True intellectual disability, X-linked 101 non-syndromic X-linked intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0010490 MONDO:0005500 True SSR4-congenital disorder of glycosylation congenital disorder of glycosylation type I UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0010490 MONDO:0015159 True SSR4-congenital disorder of glycosylation multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010490 MONDO:0017740 True SSR4-congenital disorder of glycosylation disorder of protein N-glycosylation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010492 MONDO:0017824 True pituitary adenoma, growth hormone-secreting, 2 familial isolated pituitary adenoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0010493 MONDO:0015253 True Diamond-Blackfan anemia 14 with mandibulofacial dysostosis Diamond-Blackfan anemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0010494 MONDO:0010672 True linear skin defects with multiple congenital anomalies 3 linear skin defects with multiple congenital anomalies UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0010495 MONDO:0018053 True trichothiodystrophy 5, nonphotosensitive trichothiodystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0010499 MONDO:0019078 True Ritscher-Schinzel syndrome 2 Ritscher-Schinzel syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0010493 MONDO:0015253 True Diamond-Blackfan anemia 14 with mandibulofacial dysostosis Diamond-Blackfan anemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0010494 MONDO:0010672 True linear skin defects with multiple congenital anomalies 3 linear skin defects with multiple congenital anomalies UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0010495 MONDO:0018053 True trichothiodystrophy 5, nonphotosensitive trichothiodystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0010496 MONDO:0015159 True X-linked intellectual disability-short stature-overweight syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010496 MONDO:0020119 True X-linked intellectual disability-short stature-overweight syndrome X-linked syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED +MONDO:0010498 MONDO:0019240 True MEND syndrome sterol biosynthesis disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010499 MONDO:0019078 True Ritscher-Schinzel syndrome 2 Ritscher-Schinzel syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED MONDO:0010500 MONDO:0020119 True intellectual disability, X-linked, syndromic 33 X-linked syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0010501 MONDO:0020119 True syndromic X-linked intellectual disability 34 X-linked syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0010503 MONDO:0015231 True Bartter disease type 5 Bartter syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0010501 MONDO:0015159 True syndromic X-linked intellectual disability 34 multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010501 MONDO:0020119 True syndromic X-linked intellectual disability 34 X-linked syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0010502 MONDO:0020119 True intellectual disability, X-linked 99, syndromic, female-restricted X-linked syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED +MONDO:0010503 MONDO:0015231 True Bartter disease type 5 Bartter syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0010504 MONDO:0003778 True immunodeficiency 47 inborn error of immunity UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0010505 MONDO:0015159 True intellectual disability-balding-patella luxation-acromicria syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010505 MONDO:0019695 True intellectual disability-balding-patella luxation-acromicria syndrome acromelic dysplasia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010506 MONDO:0019181 True intellectual disability, X-linked 61 non-syndromic X-linked intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0010508 MONDO:0019181 True intellectual disability, X-linked 103 non-syndromic X-linked intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0010509 MONDO:0019181 True intellectual disability, X-linked 104 non-syndromic X-linked intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0010510 MONDO:0019181 True intellectual disability, X-linked 105 non-syndromic X-linked intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0010511 MONDO:0018801 True vas deferens, congenital bilateral aplasia of, X-linked congenital bilateral absence of vas deferens UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0010507 MONDO:0017010 True Xq25 microduplication syndrome partial duplication of the long arm of chromosome X UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010508 MONDO:0019181 True intellectual disability, X-linked 103 non-syndromic X-linked intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0010509 MONDO:0019181 True intellectual disability, X-linked 104 non-syndromic X-linked intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0010510 MONDO:0019181 True intellectual disability, X-linked 105 non-syndromic X-linked intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0010511 MONDO:0018801 True vas deferens, congenital bilateral aplasia of, X-linked congenital bilateral absence of vas deferens UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED MONDO:0010512 MONDO:0020119 True intellectual disability, X-linked, syndromic, Bain type X-linked syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0010514 MONDO:0003778 True combined immunodeficiency due to moesin deficiency inborn error of immunity UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0010514 MONDO:0021094 True combined immunodeficiency due to moesin deficiency immunodeficiency disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0010517 MONDO:0016575 True ciliary dyskinesia, primary, 36, X-linked primary ciliary dyskinesia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0010518 MONDO:0015131 True Wiskott-Aldrich syndrome combined immunodeficiency UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0010518 MONDO:0015356 True Wiskott-Aldrich syndrome hereditary neoplastic syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010520 MONDO:0018965 True X-linked Alport syndrome Alport syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0010522 MONDO:0019507 True X-linked amelogenesis imperfecta hypoplastic/hypomaturation 2 amelogenesis imperfecta UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0010526 MONDO:0019255 True Fabry disease sphingolipidosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0010537 MONDO:0020119 True Borjeson-Forssman-Lehmann syndrome X-linked syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0010515 MONDO:0002254 True Meester-Loeys syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0010515 MONDO:0003847 True Meester-Loeys syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0010516 MONDO:0003847 True midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0010517 MONDO:0016575 True ciliary dyskinesia, primary, 36, X-linked primary ciliary dyskinesia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0010518 MONDO:0000425 True Wiskott-Aldrich syndrome X-linked disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0010518 MONDO:0015356 True Wiskott-Aldrich syndrome hereditary neoplastic syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010518 MONDO:0021181 True Wiskott-Aldrich syndrome inherited blood coagulation disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010519 MONDO:0020040 True alpha thalassemia-X-linked intellectual disability syndrome 46,XY disorder of sex development UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010520 MONDO:0000425 True X-linked Alport syndrome X-linked disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0010520 MONDO:0018965 True X-linked Alport syndrome Alport syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0010522 MONDO:0019507 True X-linked amelogenesis imperfecta hypoplastic/hypomaturation 2 amelogenesis imperfecta UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0010524 MONDO:0016612 True X-linked sideroblastic anemia with ataxia X-linked cerebellar ataxia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0010524 MONDO:0020099 True X-linked sideroblastic anemia with ataxia inherited sideroblastic anemia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0010526 MONDO:0015327 True Fabry disease developmental anomaly of metabolic origin UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010526 MONDO:0019255 True Fabry disease sphingolipidosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0010529 MONDO:0016612 True X-linked spinocerebellar ataxia type 3 X-linked cerebellar ataxia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0010531 MONDO:0019287 True contractures-ectodermal dysplasia-cleft lip/palate syndrome ectodermal dysplasia syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0010532 MONDO:0001516 True infantile-onset X-linked spinal muscular atrophy spinal muscular atrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0010532 MONDO:0015168 True infantile-onset X-linked spinal muscular atrophy arthrogryposis multiplex congenita UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS +MONDO:0010532 MONDO:0024257 True infantile-onset X-linked spinal muscular atrophy hereditary motor neuron disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010533 MONDO:0003847 True Arts syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0010534 MONDO:0016612 True X-linked spinocerebellar ataxia type 4 X-linked cerebellar ataxia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0010537 MONDO:0020119 True Borjeson-Forssman-Lehmann syndrome X-linked syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0010538 MONDO:0019054 True Mononen-Karnes-Senac syndrome congenital limb malformation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010542 MONDO:0016333 True dilated cardiomyopathy 3B familial dilated cardiomyopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0010543 MONDO:0017359 True Barth syndrome 3-methylglutaconic aciduria UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0010568 MONDO:0002254 True Aicardi syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0010574 MONDO:0020119 True syndromic X-linked intellectual disability 5 X-linked syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0010580 MONDO:0002254 True immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0010586 MONDO:0020066 True X-linked Ehlers-Danlos syndrome Ehlers-Danlos syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010588 MONDO:0019516 True exudative vitreoretinopathy 2, X-linked exudative vitreoretinopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0010589 MONDO:0002010 True Aarskog-Scott syndrome, X-linked FG syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0010600 MONDO:0018305 True granulomatous disease, chronic, X-linked chronic granulomatous disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0010602 MONDO:0018660 True hemophilia A hemophilia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010604 MONDO:0018660 True hemophilia B hemophilia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010543 MONDO:0009637 True Barth syndrome inborn mitochondrial myopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0010543 MONDO:0015134 True Barth syndrome constitutional neutropenia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010543 MONDO:0016333 True Barth syndrome familial dilated cardiomyopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0010543 MONDO:0017359 True Barth syndrome 3-methylglutaconic aciduria UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0010543 MONDO:0018117 True Barth syndrome disorder of phospholipids, sphingolipids and fatty acids biosynthesis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010545 MONDO:0003847 True Nance-Horan syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0010547 MONDO:0016612 True X-linked progressive cerebellar ataxia X-linked cerebellar ataxia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0010548 MONDO:0016612 True spinocerebellar ataxia, X-linked 2 X-linked cerebellar ataxia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0010549 MONDO:0018994 True Charcot-Marie-Tooth disease X-linked dominant 1 Charcot-Marie-Tooth disease type X UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0010550 MONDO:0018994 True Charcot-Marie-Tooth disease X-linked recessive 2 Charcot-Marie-Tooth disease type X UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0010551 MONDO:0018994 True Charcot-Marie-Tooth disease X-linked recessive 3 Charcot-Marie-Tooth disease type X UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0010554 MONDO:0002254 True Abruzzo-Erickson syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0010554 MONDO:0003847 True Abruzzo-Erickson syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0010554 MONDO:0015161 True Abruzzo-Erickson syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010556 MONDO:0000425 True X-linked chondrodysplasia punctata X-linked disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0010557 MONDO:0001898 True choroideremia optic choroid disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0010559 MONDO:0015150 True MASA syndrome complex hereditary spastic paraplegia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010559 MONDO:0017140 True MASA syndrome L1 syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010560 MONDO:0016064 True cleft palate with or without ankyloglossia, X-linked cleft palate UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0010563 MONDO:0018852 True blue cone monochromacy achromatopsia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0010563 MONDO:0020605 True blue cone monochromacy X-linked recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0010565 MONDO:0001703 True red color blindness color vision disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0010565 MONDO:0005328 True red color blindness eye disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0010568 MONDO:0002254 True Aicardi syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0010569 MONDO:0017140 True X-linked complicated corpus callosum dysgenesis L1 syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010570 MONDO:0002254 True craniofrontonasal syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0010572 MONDO:0017762 True occipital horn syndrome disorder of copper metabolism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010574 MONDO:0015159 True syndromic X-linked intellectual disability 5 multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010574 MONDO:0020022 True syndromic X-linked intellectual disability 5 central nervous system malformation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010574 MONDO:0020119 True syndromic X-linked intellectual disability 5 X-linked syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0010576 MONDO:0019586 True X-linked mixed hearing loss with perilymphatic gusher X-linked nonsyndromic hearing loss UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0010577 MONDO:0019586 True hearing loss, X-linked 1 X-linked nonsyndromic hearing loss UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0010578 MONDO:0024237 True deafness dystonia syndrome inherited neurodegenerative disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010580 MONDO:0003847 True immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0010580 MONDO:0015126 True immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome polyendocrinopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010580 MONDO:0019787 True immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome autoimmune enteropathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010581 MONDO:0000425 True diabetes insipidus, nephrogenic, X-linked X-linked disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0010581 MONDO:0016383 True diabetes insipidus, nephrogenic, X-linked nephrogenic diabetes insipidus UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0010584 MONDO:0000425 True dyskeratosis congenita, X-linked X-linked disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0010585 MONDO:0000425 True X-linked hypohidrotic ectodermal dysplasia X-linked disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0010585 MONDO:0016535 True X-linked hypohidrotic ectodermal dysplasia hypohidrotic ectodermal dysplasia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0010586 MONDO:0020066 True X-linked Ehlers-Danlos syndrome Ehlers-Danlos syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010588 MONDO:0000425 True exudative vitreoretinopathy 2, X-linked X-linked disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0010588 MONDO:0019516 True exudative vitreoretinopathy 2, X-linked exudative vitreoretinopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0010589 MONDO:0000425 True Aarskog-Scott syndrome, X-linked X-linked disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0010589 MONDO:0021005 True Aarskog-Scott syndrome, X-linked faciodigitogenital syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0010591 MONDO:0019952 True fingerprint body myopathy congenital myopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0010592 MONDO:0019755 True focal dermal hypoplasia developmental defect during embryogenesis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010600 MONDO:0018305 True granulomatous disease, chronic, X-linked chronic granulomatous disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0010602 MONDO:0000425 True hemophilia A X-linked disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0010602 MONDO:0018660 True hemophilia A hemophilia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010602 MONDO:0021181 True hemophilia A inherited blood coagulation disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010604 MONDO:0018660 True hemophilia B hemophilia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010604 MONDO:0021181 True hemophilia B inherited blood coagulation disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010606 MONDO:0005711 True hernia, anterior diaphragmatic congenital diaphragmatic hernia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0010607 MONDO:0018677 True heterotaxy, visceral, 1, X-linked visceral heterotaxy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0010610 MONDO:0020022 True holoprosencephaly-hypokinesia-congenital contractures syndrome central nervous system malformation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010611 MONDO:0016349 True X-linked hydrocephalus with stenosis of the aqueduct of Sylvius congenital hydrocephalus UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0010615 MONDO:0000050 True isolated growth hormone deficiency type III isolated congenital growth hormone deficiency UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0010626 MONDO:0003947 True hyper-IgM syndrome type 1 hyper-IgM syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0010627 MONDO:0021094 True X-linked lymphoproliferative syndrome immunodeficiency disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010632 MONDO:0100062 True developmental and epileptic encephalopathy, 1 developmental and epileptic encephalopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0010635 MONDO:0018800 True hypogonadotropic hypogonadism 1 with or without anosmia Kallmann syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0010643 MONDO:0005059 True acute leukemia leukemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0010645 MONDO:0002254 True oculocerebrorenal syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0010647 MONDO:0004983 True spermatogenic failure, X-linked, 2 spermatogenic failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0010651 MONDO:0002254 True Menkes disease syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0010653 MONDO:0020119 True Renpenning syndrome X-linked syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0010654 MONDO:0020119 True Partington syndrome X-linked syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0010656 MONDO:0019181 True intellectual disability, X-linked 1 non-syndromic X-linked intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0010657 MONDO:0016826 True methylmalonic acidemia with homocystinuria, type cblX methylmalonic aciduria and homocystinuria UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0010611 MONDO:0017140 True X-linked hydrocephalus with stenosis of the aqueduct of Sylvius L1 syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010613 MONDO:0019052 True inborn glycerol kinase deficiency inborn errors of metabolism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0010614 MONDO:0016381 True X-linked congenital generalized hypertrichosis hypertrichosis lanuginosa congenita UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0010615 MONDO:0000050 True isolated growth hormone deficiency type III isolated congenital growth hormone deficiency UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0010617 MONDO:0015159 True male hypergonadotropic hypogonadism-intellectual disability-skeletal anomalies syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010619 MONDO:0020604 True X-linked dominant hypophosphatemic rickets X-linked dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0010621 MONDO:0015161 True CHILD syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010621 MONDO:0017269 True CHILD syndrome X-linked ichthyosis syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010621 MONDO:0019240 True CHILD syndrome sterol biosynthesis disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010621 MONDO:0019701 True CHILD syndrome chondrodysplasia punctata UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0010622 MONDO:0015947 True recessive X-linked ichthyosis inherited ichthyosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010622 MONDO:0020605 True recessive X-linked ichthyosis X-linked recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0010626 MONDO:0000425 True hyper-IgM syndrome type 1 X-linked disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0010626 MONDO:0003947 True hyper-IgM syndrome type 1 hyper-IgM syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0010627 MONDO:0000425 True X-linked lymphoproliferative syndrome X-linked disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0010627 MONDO:0015541 True X-linked lymphoproliferative syndrome hereditary hemophagocytic lymphohistiocytosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010627 MONDO:0016537 True X-linked lymphoproliferative syndrome lymphoproliferative syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0010631 MONDO:0019287 True incontinentia pigmenti ectodermal dysplasia syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS +MONDO:0010632 MONDO:0100062 True developmental and epileptic encephalopathy, 1 developmental and epileptic encephalopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0010637 MONDO:0000136 True keratosis follicularis spinulosa decalvans, X-linked keratosis follicularis spinulosa decalvans UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0010641 MONDO:0017007 True X-linked diffuse leiomyomatosis-Alport syndrome partial deletion of the long arm of chromosome X UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010643 MONDO:0005059 True acute leukemia leukemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0010645 MONDO:0002254 True oculocerebrorenal syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0010645 MONDO:0015962 True oculocerebrorenal syndrome inherited renal tubular disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010645 MONDO:0019216 True oculocerebrorenal syndrome inborn disorder of amino acid transport UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010647 MONDO:0004983 True spermatogenic failure, X-linked, 2 spermatogenic failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0010650 MONDO:0018233 True Melnick-Needles syndrome otopalatodigital syndrome spectrum disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0010651 MONDO:0004689 True Menkes disease inborn metal metabolism disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0010651 MONDO:0017762 True Menkes disease disorder of copper metabolism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010653 MONDO:0020119 True Renpenning syndrome X-linked syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0010654 MONDO:0020119 True Partington syndrome X-linked syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0010655 MONDO:0015159 True X-linked intellectual disability with marfanoid habitus multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010656 MONDO:0019181 True intellectual disability, X-linked 1 non-syndromic X-linked intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0010657 MONDO:0016826 True methylmalonic acidemia with homocystinuria, type cblX methylmalonic aciduria and homocystinuria UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0010657 MONDO:0019181 True methylmalonic acidemia with homocystinuria, type cblX non-syndromic X-linked intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0010658 MONDO:0020119 True syndromic X-linked intellectual disability 12 X-linked syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0010660 MONDO:0019181 True intellectual disability, X-linked 9 non-syndromic X-linked intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0010664 MONDO:0020119 True syndromic X-linked intellectual disability Snyder type X-linked syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0010665 MONDO:0020119 True Wilson-Turner syndrome X-linked syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0010667 MONDO:0020119 True Prieto syndrome X-linked syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0010671 MONDO:0016073 True microphthalmia, syndromic 1 syndromic microphthalmia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0010674 MONDO:0002254 True mucopolysaccharidosis type 2 syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0010674 MONDO:0019249 True mucopolysaccharidosis type 2 mucopolysaccharidosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0010679 MONDO:0020121 True Duchenne muscular dystrophy muscular dystrophy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0010683 MONDO:0018947 True X-linked myotubular myopathy centronuclear myopathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0010658 MONDO:0020119 True syndromic X-linked intellectual disability 12 X-linked syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0010659 MONDO:0019181 True FRAXE intellectual disability non-syndromic X-linked intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0010660 MONDO:0019181 True intellectual disability, X-linked 9 non-syndromic X-linked intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0010661 MONDO:0020119 True severe X-linked intellectual disability, Gustavson type X-linked syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED +MONDO:0010664 MONDO:0020119 True syndromic X-linked intellectual disability Snyder type X-linked syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0010665 MONDO:0020119 True Wilson-Turner syndrome X-linked syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0010667 MONDO:0020119 True Prieto syndrome X-linked syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0010668 MONDO:0019694 True skeletal dysplasia-intellectual disability syndrome spondylodysplastic dysplasia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010669 MONDO:0019530 True syndactyly type 8 non-syndromic syndactyly UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010671 MONDO:0016073 True microphthalmia, syndromic 1 syndromic microphthalmia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0010672 MONDO:0016073 True linear skin defects with multiple congenital anomalies syndromic microphthalmia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS +MONDO:0010672 MONDO:0019294 True linear skin defects with multiple congenital anomalies mixed dermis disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010674 MONDO:0019249 True mucopolysaccharidosis type 2 mucopolysaccharidosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0010674 MONDO:0800088 True mucopolysaccharidosis type 2 lysosomal storage disease with skeletal involvement UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010679 MONDO:0020121 True Duchenne muscular dystrophy muscular dystrophy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0010680 MONDO:0016830 True X-linked Emery-Dreifuss muscular dystrophy Emery-Dreifuss muscular dystrophy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010683 MONDO:0018947 True X-linked myotubular myopathy centronuclear myopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0010684 MONDO:0016106 True X-linked myopathy with excessive autophagy progressive muscular dystrophy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010684 MONDO:0016112 True X-linked myopathy with excessive autophagy hereditary inclusion-body myopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010685 MONDO:0001384 True myopia 1, X-linked myopia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0010693 MONDO:0005712 True nystagmus 1, congenital, X-linked congenital nystagmus UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0010686 MONDO:0015159 True N syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010686 MONDO:0015356 True N syndrome hereditary neoplastic syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010688 MONDO:0015364 True hereditary sensory neuropathy X-linked hereditary sensory and autonomic neuropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED +MONDO:0010689 MONDO:0018994 True Charcot-Marie-Tooth disease X-linked recessive 4 Charcot-Marie-Tooth disease type X UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0010693 MONDO:0005712 True nystagmus 1, congenital, X-linked congenital nystagmus UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED MONDO:0010698 MONDO:0043878 True optic atrophy 2 hereditary optic atrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0010702 MONDO:0002254 True orofaciodigital syndrome I syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0010704 MONDO:0002254 True otopalatodigital syndrome type 1 syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0010706 MONDO:0019852 True premature ovarian failure 1 inherited primary ovarian failure UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0010714 MONDO:0019046 True Pelizeaus-Merzbacher spectrum disorder leukodystrophy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0010717 MONDO:0019169 True pyruvate dehydrogenase E1-alpha deficiency pyruvate dehydrogenase deficiency UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0010720 MONDO:0019154 True partial androgen insensitivity syndrome androgen insensitivity syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS -MONDO:0010723 MONDO:0019200 True retinitis pigmentosa 2 retinitis pigmentosa UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0010726 MONDO:0002254 True Rett syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0010731 MONDO:0002254 True Simpson-Golabi-Behmel syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010733 MONDO:0019064 True hereditary spastic paraplegia 2 hereditary spastic paraplegia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0010736 MONDO:0016576 True split hand-foot malformation 2 split hand-foot malformation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0010738 MONDO:0016763 True spondylometaphyseal dysplasia, Golden type spondylometaphyseal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0010699 MONDO:0018994 True Charcot-Marie-Tooth disease X-linked recessive 5 Charcot-Marie-Tooth disease type X UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0010699 MONDO:0019236 True Charcot-Marie-Tooth disease X-linked recessive 5 inborn disorder of purine metabolism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010702 MONDO:0002254 True orofaciodigital syndrome I syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0010706 MONDO:0019852 True premature ovarian failure 1 inherited primary ovarian failure UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0010711 MONDO:0003847 True TARP syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0010712 MONDO:0019591 True panhypopituitarism, X-linked panhypopituitarism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0010713 MONDO:0003778 True properdin deficiency, X-linked inborn error of immunity UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0010714 MONDO:0019046 True Pelizeaus-Merzbacher spectrum disorder leukodystrophy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0010717 MONDO:0019169 True pyruvate dehydrogenase E1-alpha deficiency pyruvate dehydrogenase deficiency UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0010718 MONDO:0018234 True absent radius-anogenital anomalies syndrome dysostosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010718 MONDO:0019054 True absent radius-anogenital anomalies syndrome congenital limb malformation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010720 MONDO:0019154 True partial androgen insensitivity syndrome androgen insensitivity syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED +MONDO:0010723 MONDO:0019200 True retinitis pigmentosa 2 retinitis pigmentosa UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0010725 MONDO:0000425 True X-linked retinoschisis X-linked disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0010725 MONDO:0004579 True X-linked retinoschisis retinoschisis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0010726 MONDO:0000594 True Rett syndrome pervasive developmental disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0010731 MONDO:0019716 True Simpson-Golabi-Behmel syndrome overgrowth syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010732 MONDO:0003847 True spastic paraparesis-deafness syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0010733 MONDO:0019046 True hereditary spastic paraplegia 2 leukodystrophy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS +MONDO:0010733 MONDO:0019064 True hereditary spastic paraplegia 2 hereditary spastic paraplegia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0010735 MONDO:0024237 True Kennedy disease inherited neurodegenerative disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010736 MONDO:0016576 True split hand-foot malformation 2 split hand-foot malformation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0010737 MONDO:0000425 True spondyloepiphyseal dysplasia tarda, X-linked X-linked disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0010737 MONDO:0019667 True spondyloepiphyseal dysplasia tarda, X-linked spondyloepiphyseal dysplasia tarda UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0010738 MONDO:0016763 True spondylometaphyseal dysplasia, Golden type spondylometaphyseal dysplasia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0010741 MONDO:0005486 True tooth agenesis, selective, X-linked, 1 tooth agenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0010742 MONDO:0015161 True pentalogy of Cantrell multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010743 MONDO:0100241 True thrombocytopenia 1 inherited thrombocytopenia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0010745 MONDO:0017145 True beta-thalassemia-X-linked thrombocytopenia syndrome beta-thalassemia and related diseases UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010747 MONDO:0000477 True X-linked dystonia-parkinsonism focal dystonia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0010747 MONDO:0020065 True X-linked dystonia-parkinsonism combined dystonia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010750 MONDO:0018234 True ulnar hypoplasia-split foot syndrome dysostosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010750 MONDO:0019054 True ulnar hypoplasia-split foot syndrome congenital limb malformation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010752 MONDO:0008642 True VACTERL association, X-linked, with or without hydrocephalus VACTERL/vater association UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED +MONDO:0010753 MONDO:0003847 True cardiac valvular dysplasia, X-linked hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0010758 MONDO:0025445 True Wieacker-Wolff syndrome Wieacker-Wolff syndrome (spectrum) UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0010761 MONDO:0019200 True retinitis pigmentosa Y-linked retinitis pigmentosa UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0010764 MONDO:0033304 True hearing loss, Y-linked 1 nonsyndromic deafness, Y-linked UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0010765 MONDO:0001967 True 46,XY complete gonadal dysgenesis gonadal dysgenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0010767 MONDO:0004983 True spermatogenic failure, Y-linked, 2 spermatogenic failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0010761 MONDO:0000428 True retinitis pigmentosa Y-linked Y-linked disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0010761 MONDO:0019200 True retinitis pigmentosa Y-linked retinitis pigmentosa UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0010763 MONDO:0010595 True spermatogenic failure, Y-linked, 1 Sertoli cell-only syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0010764 MONDO:0033304 True hearing loss, Y-linked 1 nonsyndromic deafness, Y-linked UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0010765 MONDO:0001967 True 46,XY complete gonadal dysgenesis gonadal dysgenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0010767 MONDO:0004983 True spermatogenic failure, Y-linked, 2 spermatogenic failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED MONDO:0010768 MONDO:0002478 True gonadoblastoma mixed germ cell-sex cord-stromal tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0010787 MONDO:0002254 True Kearns-Sayre syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0010788 MONDO:0043878 True Leber hereditary optic neuropathy hereditary optic atrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING -MONDO:0010789 MONDO:0002254 True MELAS syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0010790 MONDO:0002254 True MERRF syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0010771 MONDO:0004069 True histiocytoid cardiomyopathy inborn mitochondrial metabolism disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0010771 MONDO:0016333 True histiocytoid cardiomyopathy familial dilated cardiomyopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0010772 MONDO:0020478 True Leber optic atrophy and dystonia Leber plus disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0010775 MONDO:0019501 True retinitis pigmentosa-deafness syndrome Usher syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED +MONDO:0010779 MONDO:0016387 True mitochondrial non-syndromic sensorineural hearing loss mitochondrial oxidative phosphorylation disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010782 MONDO:0000863 True myopathy, lactic acidosis, and sideroblastic anemia 3 myopathy, lactic acidosis, and sideroblastic anemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED +MONDO:0010785 MONDO:0015967 True maternally-inherited diabetes and deafness monogenic diabetes UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010785 MONDO:0016387 True maternally-inherited diabetes and deafness mitochondrial oxidative phosphorylation disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010786 MONDO:0016387 True chronic diarrhea with villous atrophy mitochondrial oxidative phosphorylation disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010787 MONDO:0005181 True Kearns-Sayre syndrome progressive external ophthalmoplegia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0010787 MONDO:0016333 True Kearns-Sayre syndrome familial dilated cardiomyopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0010787 MONDO:0016387 True Kearns-Sayre syndrome mitochondrial oxidative phosphorylation disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010787 MONDO:0020127 True Kearns-Sayre syndrome hereditary peripheral neuropathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010788 MONDO:0016387 True Leber hereditary optic neuropathy mitochondrial oxidative phosphorylation disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010788 MONDO:0020249 True Leber hereditary optic neuropathy hereditary optic neuropathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010789 MONDO:0004675 True MELAS syndrome mitochondrial encephalomyopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0010790 MONDO:0004675 True MERRF syndrome mitochondrial encephalomyopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0010790 MONDO:0016333 True MERRF syndrome familial dilated cardiomyopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0010790 MONDO:0020127 True MERRF syndrome hereditary peripheral neuropathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010794 MONDO:0016387 True NARP syndrome mitochondrial oxidative phosphorylation disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010794 MONDO:0020127 True NARP syndrome hereditary peripheral neuropathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010795 MONDO:0024276 True oncocytic neoplasm glandular cell neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010797 MONDO:0002254 True Pearson syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0010806 MONDO:0019200 True retinitis pigmentosa 13 retinitis pigmentosa UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0010807 MONDO:0019588 True autosomal recessive nonsyndromic hearing loss 2 hearing loss, autosomal recessive UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0010808 MONDO:0013600 True fatal familial insomnia insomnia UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010811 MONDO:0005043 True benign prostatic hyperplasia hyperplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010817 MONDO:0019587 True autosomal dominant nonsyndromic hearing loss 2A autosomal dominant nonsyndromic hearing loss UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0010818 MONDO:0019200 True retinitis pigmentosa 12 retinitis pigmentosa UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0010822 MONDO:0016649 True Warburg micro syndrome 1 Warburg micro syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0010823 MONDO:0015776 True rhizomelic chondrodysplasia punctata type 3 rhizomelic chondrodysplasia punctata UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0010827 MONDO:0019200 True retinitis pigmentosa 14 retinitis pigmentosa UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0010828 MONDO:0019200 True retinitis pigmentosa 11 retinitis pigmentosa UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0010832 MONDO:0015229 True Bardet-Biedl syndrome 3 Bardet-Biedl syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0010800 MONDO:0018105 True Wolfram syndrome, mitochondrial form Wolfram syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0010801 MONDO:0019694 True spondylocamptodactyly syndrome spondylodysplastic dysplasia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010802 MONDO:0002254 True pancreatic hypoplasia-diabetes-congenital heart disease syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0010802 MONDO:0003847 True pancreatic hypoplasia-diabetes-congenital heart disease syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0010803 MONDO:0018230 True Eiken syndrome skeletal dysplasia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010805 MONDO:0017919 True bladder exstrophy exstrophy-epispadias complex UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0010806 MONDO:0019200 True retinitis pigmentosa 13 retinitis pigmentosa UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0010807 MONDO:0019588 True autosomal recessive nonsyndromic hearing loss 2 hearing loss, autosomal recessive UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0010808 MONDO:0005429 True fatal familial insomnia prion disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0010808 MONDO:0024237 True fatal familial insomnia inherited neurodegenerative disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010809 MONDO:0011996 True familial chronic myelocytic leukemia-like syndrome chronic myelogenous leukemia, BCR-ABL1 positive UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED +MONDO:0010811 MONDO:0003105 True benign prostatic hyperplasia prostate disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0010814 MONDO:0002254 True chondrodysplasia-pseudohermaphroditism syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0010814 MONDO:0020040 True chondrodysplasia-pseudohermaphroditism syndrome 46,XY disorder of sex development UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010815 MONDO:0019667 True spondyloepiphyseal dysplasia tarda with characteristic facies spondyloepiphyseal dysplasia tarda UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0010816 MONDO:0002254 True Qazi Markouizos syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0010817 MONDO:0019587 True autosomal dominant nonsyndromic hearing loss 2A autosomal dominant nonsyndromic hearing loss UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0010818 MONDO:0019200 True retinitis pigmentosa 12 retinitis pigmentosa UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0010820 MONDO:0017279 True autosomal recessive juvenile Parkinson disease 2 young-onset Parkinson disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0010821 MONDO:0016226 True familial developmental dysphasia specific language disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010822 MONDO:0016649 True Warburg micro syndrome 1 Warburg micro syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0010823 MONDO:0015776 True rhizomelic chondrodysplasia punctata type 3 rhizomelic chondrodysplasia punctata UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0010824 MONDO:0020040 True disorder of sex development-intellectual disability syndrome 46,XY disorder of sex development UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010825 MONDO:0015161 True atrioventricular defect-blepharophimosis-radial and anal defect syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010826 MONDO:0000414 True childhood absence epilepsy childhood electroclinical syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0010826 MONDO:0015653 True childhood absence epilepsy monogenic epilepsy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010826 MONDO:0020072 True childhood absence epilepsy childhood-onset epilepsy syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010826 MONDO:0850093 True childhood absence epilepsy absence epilepsy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0010827 MONDO:0019200 True retinitis pigmentosa 14 retinitis pigmentosa UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0010828 MONDO:0019200 True retinitis pigmentosa 11 retinitis pigmentosa UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0010831 MONDO:0018639 True familial caudal dysgenesis caudal regression-sirenomelia spectrum UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010832 MONDO:0015229 True Bardet-Biedl syndrome 3 Bardet-Biedl syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0010835 MONDO:0015159 True pterygium colli-intellectual disability-digital anomalies syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010836 MONDO:0005514 True nanophthalmos 1 nanophthalmia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0010837 MONDO:0001741 True primary hyperparathyroidism hyperparathyroidism UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0010860 MONDO:0019588 True autosomal recessive nonsyndromic hearing loss 3 hearing loss, autosomal recessive UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0010878 MONDO:0019064 True hereditary spastic paraplegia 6 hereditary spastic paraplegia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0010879 MONDO:0002254 True CODAS syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0010837 MONDO:0001741 True primary hyperparathyroidism hyperparathyroidism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0010839 MONDO:0015362 True neuronopathy, distal hereditary motor, autosomal dominant 8 neuronopathy, distal hereditary motor, autosomal dominant UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0010842 MONDO:0000426 True multiple cutaneous and mucosal venous malformations autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0010842 MONDO:0005385 True multiple cutaneous and mucosal venous malformations vascular disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0010844 MONDO:0015627 True epiphyseal dysplasia, multiple, 2 multiple epiphyseal dysplasia due to collagen 9 anomaly UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0010846 MONDO:0005508 True exostoses, multiple, type III hereditary multiple osteochondromas UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0010847 MONDO:0019792 True spinocerebellar ataxia type 4 autosomal dominant cerebellar ataxia type I UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010848 MONDO:0019793 True spinocerebellar ataxia type 5 autosomal dominant cerebellar ataxia type III UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010849 MONDO:0017666 True palmoplantar keratoderma, Bothnian type diffuse palmoplantar keratoderma UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010851 MONDO:0015159 True Lowry-MacLean syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010851 MONDO:0015338 True Lowry-MacLean syndrome syndromic craniosynostosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010854 MONDO:0019287 True Toriello-Lacassie-Droste syndrome ectodermal dysplasia syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED +MONDO:0010855 MONDO:0015161 True short tarsus-absence of lower eyelashes syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010856 MONDO:0016894 True autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis partial deletion of the short arm of chromosome 16 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010856 MONDO:0019741 True autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis familial cystic renal disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010858 MONDO:0015159 True macrocephaly-spastic paraplegia-dysmorphism syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010858 MONDO:0019064 True macrocephaly-spastic paraplegia-dysmorphism syndrome hereditary spastic paraplegia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0010860 MONDO:0019588 True autosomal recessive nonsyndromic hearing loss 3 hearing loss, autosomal recessive UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0010865 MONDO:0015159 True pseudoaminopterin syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010866 MONDO:0017198 True infantile osteopetrosis with neuroaxonal dysplasia osteopetrosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0010867 MONDO:0015161 True PARC syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010870 MONDO:0016108 True tibial muscular dystrophy autosomal dominant distal myopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010877 MONDO:0020127 True Charcot-Marie-Tooth disease type 5 hereditary peripheral neuropathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010878 MONDO:0019064 True hereditary spastic paraplegia 6 hereditary spastic paraplegia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0010879 MONDO:0002254 True CODAS syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0010879 MONDO:0015161 True CODAS syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010880 MONDO:0019180 True telangiectasia, hereditary hemorrhagic, type 2 hereditary hemorrhagic telangiectasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0010881 MONDO:0016907 True mesomelia-synostoses syndrome partial deletion of the long arm of chromosome 8 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010881 MONDO:0018230 True mesomelia-synostoses syndrome skeletal dysplasia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010882 MONDO:0018234 True aphalangy-syndactyly-microcephaly syndrome dysostosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010882 MONDO:0019054 True aphalangy-syndactyly-microcephaly syndrome congenital limb malformation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010883 MONDO:0015161 True pectus excavatum-macrocephaly-dysplastic nails syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010886 MONDO:0016901 True 2q37 microdeletion syndrome partial deletion of the long arm of chromosome 2 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010886 MONDO:0019054 True 2q37 microdeletion syndrome congenital limb malformation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010887 MONDO:0019280 True isolated anterior cervical hypertrichosis hypertrichosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010890 MONDO:0015159 True acrocardiofacial syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010893 MONDO:0800188 True malignant hyperthermia, susceptibility to, 4 malignant hyperthermia, susceptibility to UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0010894 MONDO:0018911 True maturity-onset diabetes of the young type 3 maturity-onset diabetes of the young UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS +MONDO:0010894 MONDO:0018911 True maturity-onset diabetes of the young type 3 maturity-onset diabetes of the young UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED +MONDO:0010895 MONDO:0006025 True ABCD syndrome autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0010896 MONDO:0005328 True pigment dispersion syndrome eye disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0010897 MONDO:0005090 True schizophrenia 3 schizophrenia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED +MONDO:0010898 MONDO:0005115 True autosomal dominant epilepsy with auditory features temporal lobe epilepsy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0010899 MONDO:0000030 True autosomal dominant nocturnal frontal lobe epilepsy 1 sleep-related hypermotor epilepsy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0010905 MONDO:0015993 True cone-rod dystrophy 1 cone-rod dystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0010899 MONDO:0020300 True autosomal dominant nocturnal frontal lobe epilepsy 1 autosomal dominant nocturnal frontal lobe epilepsy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0010905 MONDO:0015993 True cone-rod dystrophy 1 cone-rod dystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0010907 MONDO:0017350 True familial hypertryptophanemia inborn disorder of tryptophan metabolism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010908 MONDO:0004907 True loose anagen syndrome alopecia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0010909 MONDO:0015797 True UV-sensitive syndrome 1 UV-sensitive syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0010912 MONDO:0007614 True fibrosis of extraocular muscles, congenital, 3A, with or without extraocular involvement congenital fibrosis of extraocular muscles UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0010913 MONDO:0006322 True Caroli disease non-neoplastic bile duct disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010915 MONDO:0019587 True autosomal dominant nonsyndromic hearing loss 4A autosomal dominant nonsyndromic hearing loss UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0010926 MONDO:0018458 True familial hypocalciuric hypercalcemia 3 familial hypocalciuric hypercalcemia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0010931 MONDO:0019642 True vitamin D-dependent rickets, type 2B vitamin D-dependent rickets, type 2 UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010933 MONDO:0019588 True autosomal recessive nonsyndromic hearing loss 4 hearing loss, autosomal recessive UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0010912 MONDO:0007614 True fibrosis of extraocular muscles, congenital, 3A, with or without extraocular involvement congenital fibrosis of extraocular muscles UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0010914 MONDO:0015515 True carnitine palmitoyl transferase II deficiency, severe infantile form carnitine palmitoyltransferase II deficiency UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010915 MONDO:0019587 True autosomal dominant nonsyndromic hearing loss 4A autosomal dominant nonsyndromic hearing loss UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0010916 MONDO:0004691 True polycystic kidney disease 3 with or without polycystic liver disease autosomal dominant polycystic kidney disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0010920 MONDO:0019755 True microtia developmental defect during embryogenesis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010922 MONDO:0004907 True Satoyoshi syndrome alopecia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010922 MONDO:0019852 True Satoyoshi syndrome inherited primary ovarian failure UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0010924 MONDO:0016001 True D-2-hydroxyglutaric aciduria 2-hydroxyglutaric aciduria UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0010925 MONDO:0015161 True velo-facial-skeletal syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010926 MONDO:0018458 True familial hypocalciuric hypercalcemia 3 familial hypocalciuric hypercalcemia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0010930 MONDO:0015161 True anophthalmia plus syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010933 MONDO:0019588 True autosomal recessive nonsyndromic hearing loss 4 hearing loss, autosomal recessive UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED MONDO:0010936 MONDO:0005144 True frontotemporal dementia and/or amyotrophic lateral sclerosis 7 familial amyotrophic lateral sclerosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0010938 MONDO:0031520 True T-B+ severe combined immunodeficiency due to JAK3 deficiency familial severe combined immunodeficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0010938 MONDO:0044200 True T-B+ severe combined immunodeficiency due to JAK3 deficiency T-B+ severe combined immunodeficiency UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010939 MONDO:0700225 True low phospholipid associated cholelithiasis hereditary gallbladder disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0010945 MONDO:0019200 True retinitis pigmentosa 17 retinitis pigmentosa UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0010946 MONDO:0024573 True hypertrophic cardiomyopathy 6 familial hypertrophic cardiomyopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0010945 MONDO:0019200 True retinitis pigmentosa 17 retinitis pigmentosa UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0010946 MONDO:0024573 True hypertrophic cardiomyopathy 6 familial hypertrophic cardiomyopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0010949 MONDO:0018993 True Charcot-Marie-Tooth disease type 2B Charcot-Marie-Tooth disease type 2 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0010951 MONDO:0016333 True dilated cardiomyopathy 1B familial dilated cardiomyopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0010953 MONDO:0019391 True Fanconi anemia complementation group E Fanconi anemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0010952 MONDO:0003847 True hereditary hyperferritinemia with congenital cataracts hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0010953 MONDO:0019391 True Fanconi anemia complementation group E Fanconi anemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED MONDO:0010958 MONDO:0019171 True cardiac arrhythmia, ankyrin-B-related familial long QT syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0010963 MONDO:0019587 True autosomal dominant nonsyndromic hearing loss 6 autosomal dominant nonsyndromic hearing loss UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0010965 MONDO:0019588 True autosomal recessive nonsyndromic hearing loss 6 hearing loss, autosomal recessive UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0010966 MONDO:0019648 True achondrogenesis type IB achondrogenesis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0010967 MONDO:0019588 True autosomal recessive nonsyndromic hearing loss 7 hearing loss, autosomal recessive UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0010969 MONDO:0015993 True cone-rod dystrophy 5 cone-rod dystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0010973 MONDO:0019587 True autosomal dominant nonsyndromic hearing loss 5 autosomal dominant nonsyndromic hearing loss UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0010976 MONDO:0017610 True epidermolysis bullosa simplex 1D, generalized, intermediate or severe, autosomal recessive epidermolysis bullosa simplex UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0010985 MONDO:0000160 True epilepsy, familial adult myoclonic, 1 epilepsy, familial adult myoclonic UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0010986 MONDO:0019588 True autosomal recessive nonsyndromic hearing loss 9 hearing loss, autosomal recessive UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0010959 MONDO:0015161 True van den Ende-Gupta syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010959 MONDO:0015168 True van den Ende-Gupta syndrome arthrogryposis multiplex congenita UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS +MONDO:0010961 MONDO:0015770 True obesity due to prohormone convertase I deficiency congenital hypogonadotropic hypogonadism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010961 MONDO:0019182 True obesity due to prohormone convertase I deficiency inherited obesity UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0010962 MONDO:0017666 True diffuse nonepidermolytic palmoplantar keratoderma diffuse palmoplantar keratoderma UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010963 MONDO:0019587 True autosomal dominant nonsyndromic hearing loss 6 autosomal dominant nonsyndromic hearing loss UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0010964 MONDO:0015627 True epiphyseal dysplasia, multiple, 3 multiple epiphyseal dysplasia due to collagen 9 anomaly UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0010965 MONDO:0019588 True autosomal recessive nonsyndromic hearing loss 6 hearing loss, autosomal recessive UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0010966 MONDO:0019648 True achondrogenesis type IB achondrogenesis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0010967 MONDO:0019588 True autosomal recessive nonsyndromic hearing loss 7 hearing loss, autosomal recessive UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0010969 MONDO:0015993 True cone-rod dystrophy 5 cone-rod dystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0010970 MONDO:0003847 True cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0010973 MONDO:0019587 True autosomal dominant nonsyndromic hearing loss 5 autosomal dominant nonsyndromic hearing loss UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0010976 MONDO:0017610 True epidermolysis bullosa simplex 1D, generalized, intermediate or severe, autosomal recessive epidermolysis bullosa simplex UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0010977 MONDO:0016199 True Brody myopathy qualitative or quantitative defects of protein SERCA1 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010979 MONDO:0000426 True Timothy syndrome autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0010979 MONDO:0019171 True Timothy syndrome familial long QT syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0010981 MONDO:0015161 True absent tibia-polydactyly-arachnoid cyst syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010981 MONDO:0018234 True absent tibia-polydactyly-arachnoid cyst syndrome dysostosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010981 MONDO:0019054 True absent tibia-polydactyly-arachnoid cyst syndrome congenital limb malformation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010983 MONDO:0016058 True dystonia 9 paroxysmal dystonia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010984 MONDO:0010168 True Usher syndrome type 1D Usher syndrome type 1 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0010985 MONDO:0000160 True epilepsy, familial adult myoclonic, 1 epilepsy, familial adult myoclonic UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0010986 MONDO:0019588 True autosomal recessive nonsyndromic hearing loss 9 hearing loss, autosomal recessive UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED MONDO:0010986 MONDO:0021944 True autosomal recessive nonsyndromic hearing loss 9 auditory neuropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0010987 MONDO:0019588 True autosomal recessive nonsyndromic hearing loss 8 hearing loss, autosomal recessive UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0010987 MONDO:0019588 True autosomal recessive nonsyndromic hearing loss 8 hearing loss, autosomal recessive UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0010989 MONDO:0017771 True Mayer-Rokitansky-Küster-Hauser syndrome type 2 Mayer-Rokitansky-Kuster-Hauser syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0010992 MONDO:0002254 True Ayme-Gripp syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0010992 MONDO:0003847 True Ayme-Gripp syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0010993 MONDO:0015159 True Harrod syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010995 MONDO:0019011 True Charcot-Marie-Tooth disease type 1C Charcot-Marie-Tooth disease type 1 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0010996 MONDO:0019180 True hereditary hemorrhagic telangiectasia type 3 hereditary hemorrhagic telangiectasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0010998 MONDO:0005500 True ALG3-congenital disorder of glycosylation congenital disorder of glycosylation type I UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0011001 MONDO:0015263 True Brugada syndrome 1 Brugada syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0010997 MONDO:0019037 True supranuclear palsy, progressive, 1 progressive supranuclear palsy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010997 MONDO:0024237 True supranuclear palsy, progressive, 1 inherited neurodegenerative disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010998 MONDO:0005500 True ALG3-congenital disorder of glycosylation congenital disorder of glycosylation type I UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0010998 MONDO:0017740 True ALG3-congenital disorder of glycosylation disorder of protein N-glycosylation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010999 MONDO:0015159 True fallot complex-intellectual disability-growth delay syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011001 MONDO:0015263 True Brugada syndrome 1 Brugada syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED MONDO:0011002 MONDO:0015626 True neuropathy, hereditary motor and sensory, type 6A Charcot-Marie-Tooth disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0011003 MONDO:0016333 True dilated cardiomyopathy 1E familial dilated cardiomyopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0011010 MONDO:0016073 True Matthew-Wood syndrome syndromic microphthalmia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0011012 MONDO:0006507 True African iron overload hereditary hemochromatosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0011013 MONDO:0018543 True autosomal dominant hypocalcemia 1 autosomal dominant hypocalcemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0011022 MONDO:0002254 True Potocki-Shaffer syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0011026 MONDO:0017265 True autosomal recessive congenital ichthyosis 4A autosomal recessive congenital ichthyosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0011028 MONDO:0015152 True autosomal recessive limb-girdle muscular dystrophy type 2F autosomal recessive limb-girdle muscular dystrophy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0011031 MONDO:0019587 True autosomal dominant nonsyndromic hearing loss 10 autosomal dominant nonsyndromic hearing loss UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0011032 MONDO:0019587 True autosomal dominant nonsyndromic hearing loss 11 autosomal dominant nonsyndromic hearing loss UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0011045 MONDO:0016073 True MMEP syndrome syndromic microphthalmia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0011004 MONDO:0015148 True lissencephaly type 3-metacarpal bone dysplasia syndrome lissencephaly type 3 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011007 MONDO:0015161 True diaphragmatic defect-limb deficiency-skull defect syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011008 MONDO:0015161 True cleft lip/palate-intestinal malrotation-cardiopathy syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011010 MONDO:0015161 True Matthew-Wood syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011010 MONDO:0015929 True Matthew-Wood syndrome thoracic malformation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011010 MONDO:0016073 True Matthew-Wood syndrome syndromic microphthalmia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0011011 MONDO:0019054 True skeletal dysplasia-epilepsy-short stature syndrome congenital limb malformation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011012 MONDO:0006507 True African iron overload hereditary hemochromatosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0011013 MONDO:0018543 True autosomal dominant hypocalcemia 1 autosomal dominant hypocalcemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0011014 MONDO:0005933 True pleuropulmonary blastoma pulmonary blastoma UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0011014 MONDO:0006517 True pleuropulmonary blastoma childhood malignant neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011017 MONDO:0016587 True Naxos disease arrhythmogenic right ventricular cardiomyopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0011019 MONDO:0004907 True alopecia-intellectual disability-hypergonadotropic hypogonadism syndrome alopecia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011021 MONDO:0000858 True neuronal intestinal dysplasia, type B neuronal intestinal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0011022 MONDO:0002254 True Potocki-Shaffer syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0011022 MONDO:0016893 True Potocki-Shaffer syndrome partial deletion of the short arm of chromosome 11 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011023 MONDO:0004335 True hereditary mixed polyposis syndrome digestive system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0011023 MONDO:0015185 True hereditary mixed polyposis syndrome intestinal polyposis syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011025 MONDO:0020043 True Cayman type cerebellar ataxia autosomal recessive congenital cerebellar ataxia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011026 MONDO:0017265 True autosomal recessive congenital ichthyosis 4A autosomal recessive congenital ichthyosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0011028 MONDO:0015152 True autosomal recessive limb-girdle muscular dystrophy type 2F autosomal recessive limb-girdle muscular dystrophy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0011028 MONDO:0016144 True autosomal recessive limb-girdle muscular dystrophy type 2F qualitative or quantitative defects of delta-sarcoglycan UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011028 MONDO:0016333 True autosomal recessive limb-girdle muscular dystrophy type 2F familial dilated cardiomyopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0011031 MONDO:0019587 True autosomal dominant nonsyndromic hearing loss 10 autosomal dominant nonsyndromic hearing loss UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0011032 MONDO:0019587 True autosomal dominant nonsyndromic hearing loss 11 autosomal dominant nonsyndromic hearing loss UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0011035 MONDO:0019755 True neurofibromatosis-Noonan syndrome developmental defect during embryogenesis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011035 MONDO:0021060 True neurofibromatosis-Noonan syndrome RASopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0011038 MONDO:0019792 True cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome autosomal dominant cerebellar ataxia type I UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011041 MONDO:0019287 True ectodermal dysplasia with natal teeth, Turnpenny type ectodermal dysplasia syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0011045 MONDO:0015159 True MMEP syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011045 MONDO:0016073 True MMEP syndrome syndromic microphthalmia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0011048 MONDO:0015159 True epilepsy-microcephaly-skeletal dysplasia syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011049 MONDO:0015159 True Fine-Lubinsky syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011050 MONDO:0015161 True microcephaly-cardiac defect-lung malsegmentation syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011051 MONDO:0016357 True lethal short-limb skeletal dysplasia, Al Gazali type dysplastic cortical hyperostosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011053 MONDO:0015159 True intellectual disability-sparse hair-brachydactyly syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011054 MONDO:0018234 True autosomal recessive amelia dysostosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011054 MONDO:0019054 True autosomal recessive amelia congenital limb malformation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011055 MONDO:0016892 True distal monosomy 10p partial deletion of the short arm of chromosome 10 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011056 MONDO:0003321 True Wilms tumor 4 hereditary Wilms tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0011057 MONDO:0005560 True cerebrovascular disorder brain disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0011058 MONDO:0019587 True autosomal dominant nonsyndromic hearing loss 9 autosomal dominant nonsyndromic hearing loss UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0011067 MONDO:0019588 True autosomal recessive nonsyndromic hearing loss 12 hearing loss, autosomal recessive UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0011070 MONDO:0017813 True van Maldergem syndrome 1 van Maldergem syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0011074 MONDO:0019587 True autosomal dominant nonsyndromic hearing loss 7 autosomal dominant nonsyndromic hearing loss UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0011075 MONDO:0019200 True retinitis pigmentosa 18 retinitis pigmentosa UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0011076 MONDO:0018943 True myofibrillar myopathy 1 myofibrillar myopathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0011087 MONDO:0005265 True inflammatory bowel disease 2 inflammatory bowel disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0011093 MONDO:0019249 True mucopolysaccharidosis type 9 mucopolysaccharidosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0011057 MONDO:0005560 True cerebrovascular disorder brain disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0011058 MONDO:0019587 True autosomal dominant nonsyndromic hearing loss 9 autosomal dominant nonsyndromic hearing loss UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0011059 MONDO:0015338 True holoprosencephaly-craniosynostosis syndrome syndromic craniosynostosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011062 MONDO:0020022 True aprosencephaly cerebellar dysgenesis central nervous system malformation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011063 MONDO:0019287 True hidrotic ectodermal dysplasia, Christianson-Fourie type ectodermal dysplasia syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0011066 MONDO:0018995 True Charcot-Marie-Tooth disease type 4B1 Charcot-Marie-Tooth disease type 4 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0011067 MONDO:0019588 True autosomal recessive nonsyndromic hearing loss 12 hearing loss, autosomal recessive UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0011070 MONDO:0017813 True van Maldergem syndrome 1 van Maldergem syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0011071 MONDO:0015356 True hereditary thrombocytopenia and hematologic cancer predisposition syndrome hereditary neoplastic syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011071 MONDO:0021181 True hereditary thrombocytopenia and hematologic cancer predisposition syndrome inherited blood coagulation disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011074 MONDO:0019587 True autosomal dominant nonsyndromic hearing loss 7 autosomal dominant nonsyndromic hearing loss UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0011075 MONDO:0019200 True retinitis pigmentosa 18 retinitis pigmentosa UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0011076 MONDO:0016187 True myofibrillar myopathy 1 qualitative or quantitative defects of desmin UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011076 MONDO:0016333 True myofibrillar myopathy 1 familial dilated cardiomyopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0011076 MONDO:0018943 True myofibrillar myopathy 1 myofibrillar myopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0011076 MONDO:0019056 True myofibrillar myopathy 1 neuromuscular disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0011079 MONDO:0018230 True rhizomelic dysplasia, Patterson-Lowry type skeletal dysplasia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011081 MONDO:0015161 True dislocation of the hip-dysmorphism syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011082 MONDO:0016643 True oculoauriculofrontonasal syndrome frontonasal dysplasia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0011083 MONDO:0019287 True trichodental syndrome ectodermal dysplasia syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0011085 MONDO:0018995 True Charcot-Marie-Tooth disease type 4D Charcot-Marie-Tooth disease type 4 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0011086 MONDO:0017855 True severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive T-B- severe combined immunodeficiency UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011086 MONDO:0031520 True severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive familial severe combined immunodeficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0011087 MONDO:0005265 True inflammatory bowel disease 2 inflammatory bowel disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0011091 MONDO:0018993 True Charcot-Marie-Tooth disease type 2D Charcot-Marie-Tooth disease type 2 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0011093 MONDO:0019249 True mucopolysaccharidosis type 9 mucopolysaccharidosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED MONDO:0011094 MONDO:0018901 True dilated cardiomyopathy 1C left ventricular noncompaction UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS MONDO:0011094 MONDO:0024573 True dilated cardiomyopathy 1C familial hypertrophic cardiomyopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS MONDO:0011095 MONDO:0018901 True dilated cardiomyopathy 1D left ventricular noncompaction UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0011097 MONDO:0019187 True Axenfeld-Rieger syndrome type 2 Axenfeld-Rieger syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0011102 MONDO:0019587 True autosomal dominant nonsyndromic hearing loss 12 autosomal dominant nonsyndromic hearing loss UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0011103 MONDO:0019587 True autosomal dominant nonsyndromic hearing loss 3A autosomal dominant nonsyndromic hearing loss UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0011104 MONDO:0005129 True cataract 3 multiple types cataract UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0011096 MONDO:0016462 True autosomal agammaglobulinemia isolated agammaglobulinemia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011097 MONDO:0019187 True Axenfeld-Rieger syndrome type 2 Axenfeld-Rieger syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0011099 MONDO:0006025 True human HOXA1 syndromes autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0011102 MONDO:0019587 True autosomal dominant nonsyndromic hearing loss 12 autosomal dominant nonsyndromic hearing loss UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0011103 MONDO:0019587 True autosomal dominant nonsyndromic hearing loss 3A autosomal dominant nonsyndromic hearing loss UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0011104 MONDO:0005129 True cataract 3 multiple types cataract UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0011107 MONDO:0003037 True congenital hypotrichosis with juvenile macular dystrophy hypotrichosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED +MONDO:0011107 MONDO:0019287 True congenital hypotrichosis with juvenile macular dystrophy ectodermal dysplasia syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS +MONDO:0011109 MONDO:0016648 True multiple epiphyseal dysplasia, Lowry type multiple epiphyseal dysplasia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0011112 MONDO:0003321 True Wilms tumor 5 hereditary Wilms tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0011113 MONDO:0018995 True Charcot-Marie-Tooth disease type 4C Charcot-Marie-Tooth disease type 4 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0011114 MONDO:0011512 True familial multiple trichoepithelioma Brooke-Spiegler syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011118 MONDO:0019460 True bilineal acute myeloid leukemia acute leukemia of ambiguous lineage UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011119 MONDO:0019503 True iridogoniodysgenesis anterior segment dysgenesis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0011121 MONDO:0000448 True paragangliomas 2 paraganglioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0011136 MONDO:0000009 True Quebec platelet disorder inherited bleeding disorder, platelet-type UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0011137 MONDO:0019200 True retinitis pigmentosa 19 retinitis pigmentosa UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0011143 MONDO:0015993 True cone-rod dystrophy 6 cone-rod dystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0011146 MONDO:0002254 True tetrasomy 12p syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011147 MONDO:0002254 True chromosome 18q deletion syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0011156 MONDO:0015762 True progressive familial intrahepatic cholestasis type 2 progressive familial intrahepatic cholestasis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0011159 MONDO:0019587 True autosomal dominant nonsyndromic hearing loss 13 autosomal dominant nonsyndromic hearing loss UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0011160 MONDO:0019588 True autosomal recessive nonsyndromic hearing loss 15 hearing loss, autosomal recessive UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0011122 MONDO:0003916 True obesity disorder overnutrition UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0011125 MONDO:0002470 True trichothiodystrophy 1, photosensitive photosensitive trichothiodystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0011128 MONDO:0019942 True Sheldon-hall syndrome distal arthrogryposis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0011132 MONDO:0015974 True T-cell immunodeficiency, congenital alopecia, and nail dystrophy severe combined immunodeficiency UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0011133 MONDO:0019290 True deaf blind hypopigmentation syndrome, Yemenite type hypopigmentation of the skin UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011134 MONDO:0015338 True Curry-Jones syndrome syndromic craniosynostosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011136 MONDO:0000009 True Quebec platelet disorder inherited bleeding disorder, platelet-type UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0011136 MONDO:0020117 True Quebec platelet disorder alpha granule disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011137 MONDO:0019200 True retinitis pigmentosa 19 retinitis pigmentosa UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0011142 MONDO:0015286 True Ehlers-Danlos syndrome, musculocontractural type congenital disorder of glycosylation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011142 MONDO:0015327 True Ehlers-Danlos syndrome, musculocontractural type developmental anomaly of metabolic origin UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011142 MONDO:0019942 True Ehlers-Danlos syndrome, musculocontractural type distal arthrogryposis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011142 MONDO:0020066 True Ehlers-Danlos syndrome, musculocontractural type Ehlers-Danlos syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011143 MONDO:0015993 True cone-rod dystrophy 6 cone-rod dystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0011145 MONDO:0015159 True colobomatous microphthalmia - obesity - hypogenitalism - intellectual disability syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011146 MONDO:0016933 True tetrasomy 12p partial trisomy/tetrasomy of the short arm of chromosome 12 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011146 MONDO:0019716 True tetrasomy 12p overgrowth syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011147 MONDO:0016880 True chromosome 18q deletion syndrome partial deletion of chromosome 18 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011150 MONDO:0019303 True acroosteolysis-keloid-like lesions-premature aging syndrome premature aging syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011154 MONDO:0018237 True acrofacial dysostosis, Palagonia type acrofacial dysostosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0011156 MONDO:0015762 True progressive familial intrahepatic cholestasis type 2 progressive familial intrahepatic cholestasis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0011157 MONDO:0020022 True Gomez-Lopez-Hernandez syndrome central nervous system malformation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011159 MONDO:0019587 True autosomal dominant nonsyndromic hearing loss 13 autosomal dominant nonsyndromic hearing loss UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0011160 MONDO:0019588 True autosomal recessive nonsyndromic hearing loss 15 hearing loss, autosomal recessive UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED MONDO:0011163 MONDO:0800188 True malignant hyperthermia, susceptibility to, 5 malignant hyperthermia, susceptibility to UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0011164 MONDO:0800188 True malignant hyperthermia, susceptibility to, 6 malignant hyperthermia, susceptibility to UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0011165 MONDO:0007671 True glomerulopathy with fibronectin deposits 2 fibronectin glomerulopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0011170 MONDO:0015152 True autosomal recessive limb-girdle muscular dystrophy type 2G autosomal recessive limb-girdle muscular dystrophy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0011166 MONDO:0019175 True lymphedema-atrial septal defects-facial changes syndrome primary lymphedema UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011169 MONDO:0019268 True keratosis linearis-ichthyosis congenita-sclerosing keratoderma syndrome epidermal disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011170 MONDO:0015152 True autosomal recessive limb-girdle muscular dystrophy type 2G autosomal recessive limb-girdle muscular dystrophy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0011170 MONDO:0016192 True autosomal recessive limb-girdle muscular dystrophy type 2G qualitative or quantitative defects of telethonin UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011171 MONDO:0019287 True odonto-tricho-ungual-digito-palmar syndrome ectodermal dysplasia syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0011173 MONDO:0019111 True thrombocythemia 2 familial thrombocytosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0011178 MONDO:0002254 True infantile convulsions and choreoathetosis syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011181 MONDO:0007614 True fibrosis of extraocular muscles, congenital, 2 congenital fibrosis of extraocular muscles UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0011183 MONDO:0005382 True Paget disease of bone 2, early-onset bone Paget disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0011175 MONDO:0100339 True Friedreich ataxia 2 Friedreich ataxia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0011177 MONDO:0019071 True ectodermal dysplasia 4, hair/nail type pure hair and nail ectodermal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0011178 MONDO:0015427 True infantile convulsions and choreoathetosis paroxysmal dyskinesia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011178 MONDO:0015642 True infantile convulsions and choreoathetosis benign partial infantile seizures UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011181 MONDO:0007614 True fibrosis of extraocular muscles, congenital, 2 congenital fibrosis of extraocular muscles UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0011183 MONDO:0005382 True Paget disease of bone 2, early-onset bone Paget disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0011184 MONDO:0003847 True childhood apraxia of speech hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0011184 MONDO:0016226 True childhood apraxia of speech specific language disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011185 MONDO:0000764 True Thiel-Behnke corneal dystrophy epithelial-stromal TGFBI dystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0011185 MONDO:0020212 True Thiel-Behnke corneal dystrophy superficial corneal dystrophy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011186 MONDO:0010168 True Usher syndrome type 1F Usher syndrome type 1 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0011188 MONDO:0016342 True arrhythmogenic right ventricular dysplasia 3 familial isolated arrhythmogenic right ventricular dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0011189 MONDO:0016342 True arrhythmogenic right ventricular dysplasia 4 familial isolated arrhythmogenic right ventricular dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0011190 MONDO:0019005 True nephronophthisis 2 nephronophthisis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0011192 MONDO:0019588 True autosomal recessive nonsyndromic hearing loss 18A hearing loss, autosomal recessive UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0011193 MONDO:0015993 True cone dystrophy 3 cone-rod dystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0011190 MONDO:0019005 True nephronophthisis 2 nephronophthisis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0011192 MONDO:0019588 True autosomal recessive nonsyndromic hearing loss 18A hearing loss, autosomal recessive UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0011193 MONDO:0015993 True cone dystrophy 3 cone-rod dystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0011195 MONDO:0010168 True Usher syndrome type 1E Usher syndrome type 1 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0011198 MONDO:0100510 True spondyloepimetaphyseal dysplasia, Missouri type spondyloepimetaphyseal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0011200 MONDO:0000477 True torsion dystonia 7 focal dystonia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0011200 MONDO:0044807 True torsion dystonia 7 inherited dystonia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0011201 MONDO:0003233 True tremor, hereditary essential, 2 essential tremor UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0011211 MONDO:0016763 True axial spondylometaphyseal dysplasia spondylometaphyseal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0011214 MONDO:0015762 True progressive familial intrahepatic cholestasis type 3 progressive familial intrahepatic cholestasis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0011218 MONDO:0017265 True autosomal recessive congenital ichthyosis 11 autosomal recessive congenital ichthyosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0011219 MONDO:0019287 True Fried's tooth and nail syndrome ectodermal dysplasia syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0011201 MONDO:0003233 True tremor, hereditary essential, 2 essential tremor UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0011208 MONDO:0019293 True malignant atrophic papulosis skin vascular disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011211 MONDO:0016763 True axial spondylometaphyseal dysplasia spondylometaphyseal dysplasia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0011213 MONDO:0003847 True Pierpont syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0011213 MONDO:0015159 True Pierpont syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011214 MONDO:0015762 True progressive familial intrahepatic cholestasis type 3 progressive familial intrahepatic cholestasis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0011216 MONDO:0019257 True hemochromatosis type 2A hemochromatosis type 2 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0011217 MONDO:0019702 True desmosterolosis neonatal osteosclerotic dysplasia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011218 MONDO:0017265 True autosomal recessive congenital ichthyosis 11 autosomal recessive congenital ichthyosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0011219 MONDO:0019287 True Fried's tooth and nail syndrome ectodermal dysplasia syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED MONDO:0011223 MONDO:0005144 True amyotrophic lateral sclerosis type 4 familial amyotrophic lateral sclerosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0011226 MONDO:0019587 True autosomal dominant nonsyndromic hearing loss 15 autosomal dominant nonsyndromic hearing loss UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0011232 MONDO:0000700 True migraine, familial hemiplegic, 2 familial hemiplegic migraine UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0011233 MONDO:0019187 True Axenfeld-Rieger syndrome type 3 Axenfeld-Rieger syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0011224 MONDO:0020129 True monomelic amyotrophy acquired motor neuron disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011225 MONDO:0017855 True severe combined immunodeficiency due to DCLRE1C deficiency T-B- severe combined immunodeficiency UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011225 MONDO:0031520 True severe combined immunodeficiency due to DCLRE1C deficiency familial severe combined immunodeficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0011226 MONDO:0019587 True autosomal dominant nonsyndromic hearing loss 15 autosomal dominant nonsyndromic hearing loss UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0011227 MONDO:0015161 True short stature-auditory canal atresia-mandibular hypoplasia-skeletal anomalies syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011227 MONDO:0018751 True short stature-auditory canal atresia-mandibular hypoplasia-skeletal anomalies syndrome hereditary otorhinolaryngologic disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011231 MONDO:0000032 True febrile seizures, familial, 2 febrile seizures, familial UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0011232 MONDO:0000700 True migraine, familial hemiplegic, 2 familial hemiplegic migraine UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0011233 MONDO:0019187 True Axenfeld-Rieger syndrome type 3 Axenfeld-Rieger syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED MONDO:0011234 MONDO:0000107 True auriculocondylar syndrome 1 auriculocondylar syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0011257 MONDO:0005500 True MPI-congenital disorder of glycosylation congenital disorder of glycosylation type I UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0011259 MONDO:0019200 True retinitis pigmentosa 22 retinitis pigmentosa UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0011235 MONDO:0018234 True pelvic dysplasia-arthrogryposis of lower limbs syndrome dysostosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011236 MONDO:0015624 True hyperinsulinism due to glucokinase deficiency diazoxide-sensitive diffuse hyperinsulinism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011236 MONDO:0017688 True hyperinsulinism due to glucokinase deficiency disorder of glycolysis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011243 MONDO:0015161 True grange syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011244 MONDO:0002254 True Marshall-Smith syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0011244 MONDO:0018230 True Marshall-Smith syndrome skeletal dysplasia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011244 MONDO:0019716 True Marshall-Smith syndrome overgrowth syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011246 MONDO:0018117 True megaconial type congenital muscular dystrophy disorder of phospholipids, sphingolipids and fatty acids biosynthesis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011246 MONDO:0019950 True megaconial type congenital muscular dystrophy congenital muscular dystrophy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0011248 MONDO:0016911 True distal monosomy 13q partial deletion of the long arm of chromosome 13 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011253 MONDO:0015338 True craniomicromelic syndrome syndromic craniosynostosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011255 MONDO:0015483 True mandibulofacial dysostosis-macroblepharon-macrostomia syndrome mandibulofacial dysostosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011255 MONDO:0018234 True mandibulofacial dysostosis-macroblepharon-macrostomia syndrome dysostosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011257 MONDO:0005500 True MPI-congenital disorder of glycosylation congenital disorder of glycosylation type I UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0011257 MONDO:0017740 True MPI-congenital disorder of glycosylation disorder of protein N-glycosylation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011259 MONDO:0019200 True retinitis pigmentosa 22 retinitis pigmentosa UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0011262 MONDO:0015161 True camptodactyly, myopia, and fibrosis of the medial rectus muscle of eye multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011262 MONDO:0018234 True camptodactyly, myopia, and fibrosis of the medial rectus muscle of eye dysostosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011264 MONDO:0000476 True torsion dystonia 6 generalized dystonia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0011265 MONDO:0005486 True tooth agenesis, selective, 2 tooth agenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0011266 MONDO:0016107 True myotonic dystrophy type 2 myotonic dystrophy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0011269 MONDO:0005083 True psoriasis 2 psoriasis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0011272 MONDO:0019200 True retinitis pigmentosa 25 retinitis pigmentosa UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0011275 MONDO:0019696 True acromesomelic dysplasia 1, Maroteaux type acromesomelic dysplasia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0011276 MONDO:0000358 True orofacial cleft 2 orofacial cleft UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0011279 MONDO:0019588 True autosomal recessive nonsyndromic hearing loss 17 hearing loss, autosomal recessive UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0011281 MONDO:0018940 True congenital myasthenic syndrome 5 congenital myasthenic syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0011283 MONDO:0018158 True mitochondrial DNA depletion syndrome 1 mitochondrial DNA depletion syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0011285 MONDO:0005150 True age related macular degeneration 1 age-related macular degeneration UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0011286 MONDO:0019588 True autosomal recessive nonsyndromic hearing loss 13 hearing loss, autosomal recessive UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0011291 MONDO:0005500 True ALG6-congenital disorder of glycosylation 1C congenital disorder of glycosylation type I UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0011266 MONDO:0016107 True myotonic dystrophy type 2 myotonic dystrophy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0011269 MONDO:0005083 True psoriasis 2 psoriasis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0011272 MONDO:0019200 True retinitis pigmentosa 25 retinitis pigmentosa UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0011273 MONDO:0019289 True H syndrome hyperpigmentation of the skin UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011274 MONDO:0015338 True Muenke syndrome syndromic craniosynostosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011275 MONDO:0019696 True acromesomelic dysplasia 1, Maroteaux type acromesomelic dysplasia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0011276 MONDO:0000358 True orofacial cleft 2 orofacial cleft UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0011279 MONDO:0019588 True autosomal recessive nonsyndromic hearing loss 17 hearing loss, autosomal recessive UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0011281 MONDO:0018940 True congenital myasthenic syndrome 5 congenital myasthenic syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0011283 MONDO:0018158 True mitochondrial DNA depletion syndrome 1 mitochondrial DNA depletion syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0011284 MONDO:0004892 True astigmatism refractive error UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0011285 MONDO:0005150 True age related macular degeneration 1 age-related macular degeneration UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0011286 MONDO:0019588 True autosomal recessive nonsyndromic hearing loss 13 hearing loss, autosomal recessive UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0011287 MONDO:0015338 True craniosynostosis-anal anomalies-porokeratosis syndrome syndromic craniosynostosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011291 MONDO:0005500 True ALG6-congenital disorder of glycosylation 1C congenital disorder of glycosylation type I UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0011291 MONDO:0017740 True ALG6-congenital disorder of glycosylation 1C disorder of protein N-glycosylation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011292 MONDO:0004980 True dermatitis, atopic atopic eczema UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0011296 MONDO:0018921 True Meckel syndrome, type 2 Meckel syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0011294 MONDO:0005090 True schizophrenia 5 schizophrenia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED +MONDO:0011295 MONDO:0005090 True schizophrenia 7 schizophrenia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED +MONDO:0011296 MONDO:0018921 True Meckel syndrome, type 2 Meckel syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED MONDO:0011297 MONDO:0000030 True autosomal dominant nocturnal frontal lobe epilepsy 2 sleep-related hypermotor epilepsy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0011297 MONDO:0020300 True autosomal dominant nocturnal frontal lobe epilepsy 2 autosomal dominant nocturnal frontal lobe epilepsy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0011298 MONDO:0005090 True schizophrenia 8 schizophrenia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED +MONDO:0011299 MONDO:0005429 True Huntington disease-like 1 prion disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0011299 MONDO:0024237 True Huntington disease-like 1 inherited neurodegenerative disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011300 MONDO:0001384 True myopia 3, autosomal dominant myopia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0011301 MONDO:0019992 True pseudohypoparathyroidism type 1B pseudohypoparathyroidism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0011303 MONDO:0005363 True focal segmental glomerulosclerosis 1 inherited focal segmental glomerulosclerosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0011304 MONDO:0031037 True cerebral cavernous malformation 2 famililal cerebral cavernous malformations UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0011305 MONDO:0031037 True cerebral cavernous malformation 3 famililal cerebral cavernous malformations UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0011307 MONDO:0005090 True schizophrenia 2 schizophrenia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED +MONDO:0011308 MONDO:0003847 True GRACILE syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0011309 MONDO:0003847 True familial gestational hyperthyroidism hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0011309 MONDO:0004425 True familial gestational hyperthyroidism hyperthyroidism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0011313 MONDO:0019375 True megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0011325 MONDO:0019391 True Fanconi anemia complementation group F Fanconi anemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0011335 MONDO:0019675 True spondyloepimetaphyseal dysplasia with multiple dislocations spondyloepimetaphyseal dysplasia with joint laxity UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0011325 MONDO:0019391 True Fanconi anemia complementation group F Fanconi anemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0011327 MONDO:0024237 True neuronal intranuclear inclusion disease inherited neurodegenerative disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011330 MONDO:0019794 True spinocerebellar ataxia type 10 autosomal dominant cerebellar ataxia type IV UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011331 MONDO:0002037 True congenital chylothorax pleural disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0011331 MONDO:0017015 True congenital chylothorax primary interstitial lung disease specific to childhood UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011334 MONDO:0019287 True limb-mammary syndrome ectodermal dysplasia syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0011335 MONDO:0000426 True spondyloepimetaphyseal dysplasia with multiple dislocations autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0011335 MONDO:0019675 True spondyloepimetaphyseal dysplasia with multiple dislocations spondyloepimetaphyseal dysplasia with joint laxity UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED MONDO:0011336 MONDO:0015541 True familial hemophagocytic lymphohistiocytosis 4 hereditary hemophagocytic lymphohistiocytosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0011337 MONDO:0015541 True familial hemophagocytic lymphohistiocytosis 2 hereditary hemophagocytic lymphohistiocytosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0011342 MONDO:0005501 True SLC35A1-congenital disorder of glycosylation congenital disorder of glycosylation type II UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0011346 MONDO:0018106 True xanthinuria type II hereditary xanthinuria UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0011350 MONDO:0019587 True autosomal dominant nonsyndromic hearing loss 17 autosomal dominant nonsyndromic hearing loss UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0011351 MONDO:0019588 True autosomal recessive nonsyndromic hearing loss 21 hearing loss, autosomal recessive UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0011355 MONDO:0015993 True cone-rod dystrophy 7 cone-rod dystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0011360 MONDO:0019588 True autosomal recessive nonsyndromic hearing loss 14 hearing loss, autosomal recessive UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0011364 MONDO:0019588 True autosomal recessive nonsyndromic hearing loss 16 hearing loss, autosomal recessive UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0011338 MONDO:0031520 True Omenn syndrome familial severe combined immunodeficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0011342 MONDO:0005501 True SLC35A1-congenital disorder of glycosylation congenital disorder of glycosylation type II UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0011342 MONDO:0017749 True SLC35A1-congenital disorder of glycosylation disorder of multiple glycosylation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011346 MONDO:0018106 True xanthinuria type II hereditary xanthinuria UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0011350 MONDO:0019587 True autosomal dominant nonsyndromic hearing loss 17 autosomal dominant nonsyndromic hearing loss UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0011351 MONDO:0019588 True autosomal recessive nonsyndromic hearing loss 21 hearing loss, autosomal recessive UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0011355 MONDO:0015993 True cone-rod dystrophy 7 cone-rod dystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0011359 MONDO:0016643 True acromelic frontonasal dysostosis frontonasal dysplasia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS +MONDO:0011359 MONDO:0018237 True acromelic frontonasal dysostosis acrofacial dysostosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0011360 MONDO:0019588 True autosomal recessive nonsyndromic hearing loss 14 hearing loss, autosomal recessive UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0011362 MONDO:0016106 True myopathy, myofibrillar, 9, with early respiratory failure progressive muscular dystrophy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011362 MONDO:0016112 True myopathy, myofibrillar, 9, with early respiratory failure hereditary inclusion-body myopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011364 MONDO:0019588 True autosomal recessive nonsyndromic hearing loss 16 hearing loss, autosomal recessive UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0011365 MONDO:0000734 True blepharophimosis - intellectual disability syndrome, SBBYS type Ohdo syndrome and variants UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0011365 MONDO:0002254 True blepharophimosis - intellectual disability syndrome, SBBYS type syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0011366 MONDO:0005040 True ovarian germ cell tumor germ cell tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0011366 MONDO:0021068 True ovarian germ cell tumor ovarian neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011369 MONDO:0005439 True hypercholesterolemia, autosomal dominant, 3 familial hypercholesterolemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0011374 MONDO:0037748 True hypercholesterolemia, familial, 4 hyperlipoproteinemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011374 MONDO:0019052 True hypercholesterolemia, familial, 4 inborn errors of metabolism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0011377 MONDO:0019171 True long QT syndrome 3 familial long QT syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0011382 MONDO:0019050 True sickle cell anemia inherited hemoglobinopathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0011383 MONDO:0017979 True autoimmune lymphoproliferative syndrome type 2A autoimmune lymphoproliferative syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0011381 MONDO:0019402 True dominant beta-thalassemia beta thalassemia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0011382 MONDO:0006025 True sickle cell anemia autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0011382 MONDO:0019050 True sickle cell anemia inherited hemoglobinopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0011383 MONDO:0017979 True autoimmune lymphoproliferative syndrome type 2A autoimmune lymphoproliferative syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0011386 MONDO:0000065 True microvascular complications of diabetes, susceptibility to, 1 microvascular complications of diabetes, susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0011389 MONDO:0019587 True autosomal dominant nonsyndromic hearing loss 16 autosomal dominant nonsyndromic hearing loss UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0011389 MONDO:0019587 True autosomal dominant nonsyndromic hearing loss 16 autosomal dominant nonsyndromic hearing loss UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED MONDO:0011390 MONDO:0005363 True focal segmental glomerulosclerosis 2 inherited focal segmental glomerulosclerosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0011392 MONDO:0019588 True autosomal recessive nonsyndromic hearing loss 20 hearing loss, autosomal recessive UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0011395 MONDO:0015993 True cone-rod dystrophy 3 cone-rod dystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0011399 MONDO:0000984 True alpha thalassemia thalassemia SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0011391 MONDO:0019046 True megalencephalic leukoencephalopathy with subcortical cysts leukodystrophy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0011392 MONDO:0019588 True autosomal recessive nonsyndromic hearing loss 20 hearing loss, autosomal recessive UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0011393 MONDO:0019052 True hypoalphalipoproteinemia, primary, 1 inborn errors of metabolism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0011395 MONDO:0015993 True cone-rod dystrophy 3 cone-rod dystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0011396 MONDO:0017666 True loricrin keratoderma diffuse palmoplantar keratoderma UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011397 MONDO:0019792 True autosomal dominant cerebellar ataxia, deafness and narcolepsy autosomal dominant cerebellar ataxia type I UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011398 MONDO:0006543 True dystrophic epidermolysis bullosa pruriginosa epidermolysis bullosa dystrophica UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011399 MONDO:0000984 True alpha thalassemia thalassemia SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0011400 MONDO:0016333 True dilated cardiomyopathy 1G familial dilated cardiomyopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0011402 MONDO:0015159 True congenital cataracts-facial dysmorphism-neuropathy syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011402 MONDO:0020046 True congenital cataracts-facial dysmorphism-neuropathy syndrome autosomal recessive degenerative and progressive cerebellar ataxia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011403 MONDO:0018901 True left ventricular noncompaction 1 left ventricular noncompaction UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0011408 MONDO:0019064 True hereditary spastic paraplegia 10 hereditary spastic paraplegia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0011413 MONDO:0005129 True cataract 9 multiple types cataract UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0011414 MONDO:0019503 True Peters anomaly anterior segment dysgenesis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0011415 MONDO:0018998 True Leber congenital amaurosis 3 Leber congenital amaurosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0011416 MONDO:0018214 True generalized epilepsy with febrile seizures plus, type 1 generalized epilepsy with febrile seizures plus UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0011417 MONDO:0006507 True hemochromatosis type 3 hereditary hemochromatosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0011421 MONDO:0014471 True mitochondrial complex V (ATP synthase) deficiency, nuclear type 1 mitochondrial proton-transporting ATP synthase complex deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0011423 MONDO:0015152 True autosomal recessive limb-girdle muscular dystrophy type 2E autosomal recessive limb-girdle muscular dystrophy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0011424 MONDO:0021058 True Carney triad neoplastic syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011405 MONDO:0015134 True poikiloderma with neutropenia constitutional neutropenia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011405 MONDO:0016382 True poikiloderma with neutropenia hereditary poikiloderma UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011408 MONDO:0019064 True hereditary spastic paraplegia 10 hereditary spastic paraplegia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0011412 MONDO:0020074 True familial encephalopathy with neuroserpin inclusion bodies progressive myoclonus epilepsy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS +MONDO:0011413 MONDO:0005129 True cataract 9 multiple types cataract UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0011414 MONDO:0000942 True Peters anomaly corneal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0011414 MONDO:0019503 True Peters anomaly anterior segment dysgenesis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0011415 MONDO:0018998 True Leber congenital amaurosis 3 Leber congenital amaurosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0011416 MONDO:0018214 True generalized epilepsy with febrile seizures plus, type 1 generalized epilepsy with febrile seizures plus UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0011417 MONDO:0006507 True hemochromatosis type 3 hereditary hemochromatosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0011420 MONDO:0015892 True short stature due to partial GHR deficiency growth hormone insensitivity syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011421 MONDO:0014471 True mitochondrial complex V (ATP synthase) deficiency, nuclear type 1 mitochondrial proton-transporting ATP synthase complex deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0011422 MONDO:0008369 True autosomal recessive proximal renal tubular acidosis proximal renal tubular acidosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0011422 MONDO:0015962 True autosomal recessive proximal renal tubular acidosis inherited renal tubular disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011423 MONDO:0015152 True autosomal recessive limb-girdle muscular dystrophy type 2E autosomal recessive limb-girdle muscular dystrophy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0011423 MONDO:0016142 True autosomal recessive limb-girdle muscular dystrophy type 2E qualitative or quantitative defects of beta-sarcoglycan UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011423 MONDO:0016333 True autosomal recessive limb-girdle muscular dystrophy type 2E familial dilated cardiomyopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0011424 MONDO:0015079 True Carney triad multiple polyglandular tumor UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011425 MONDO:0016333 True dilated cardiomyopathy 1H familial dilated cardiomyopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0011429 MONDO:0005578 True juvenile idiopathic arthritis arthritic joint disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0011435 MONDO:0016660 True microcephaly 2, primary, autosomal recessive, with or without cortical malformations autosomal recessive primary microcephaly UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0011437 MONDO:0016660 True microcephaly 4, primary, autosomal recessive autosomal recessive primary microcephaly UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0011438 MONDO:0002406 True acne dermatitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0011441 MONDO:0002254 True complex regional pain syndrome type 1 syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0011442 MONDO:0015609 True advanced sleep phase syndrome 1 advanced sleep phase syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0011443 MONDO:0000032 True febrile seizures, familial, 4 febrile seizures, familial UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0011426 MONDO:0016624 True aceruloplasminemia inherited deficiency anemia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011426 MONDO:0017763 True aceruloplasminemia disorder of iron metabolism and transport UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011426 MONDO:0018307 True aceruloplasminemia neurodegeneration with brain iron accumulation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS +MONDO:0011426 MONDO:0019118 True aceruloplasminemia inherited retinal dystrophy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0011428 MONDO:0010004 True ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3 EEC syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED +MONDO:0011429 MONDO:0005578 True juvenile idiopathic arthritis arthritic joint disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0011430 MONDO:0011060 True pulverulent cataract early-onset non-syndromic cataract UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011432 MONDO:0017393 True blepharophimosis - intellectual disability syndrome, Verloes type blepharophimosis - intellectual disability syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011435 MONDO:0016660 True microcephaly 2, primary, autosomal recessive, with or without cortical malformations autosomal recessive primary microcephaly UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0011436 MONDO:0001516 True autosomal recessive distal spinal muscular atrophy 1 spinal muscular atrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0011436 MONDO:0015363 True autosomal recessive distal spinal muscular atrophy 1 neuronopathy, distal hereditary motor, autosomal recessive UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0011437 MONDO:0016660 True microcephaly 4, primary, autosomal recessive autosomal recessive primary microcephaly UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0011438 MONDO:0006607 True acne sebaceous gland disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0011439 MONDO:0019792 True spinocerebellar ataxia type 12 autosomal dominant cerebellar ataxia type I UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011441 MONDO:0019369 True complex regional pain syndrome type 1 complex regional pain syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0011442 MONDO:0015609 True advanced sleep phase syndrome 1 advanced sleep phase syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0011443 MONDO:0000032 True febrile seizures, familial, 4 febrile seizures, familial UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED MONDO:0011444 MONDO:0007473 True Duane retraction syndrome 2 Duane retraction syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0011448 MONDO:0020088 True PPARG-related familial partial lipodystrophy familial partial lipodystrophy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0011448 MONDO:0020088 True PPARG-related familial partial lipodystrophy familial partial lipodystrophy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0011449 MONDO:0019366 True Salla disease free sialic acid storage disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011450 MONDO:0100526 True breast-ovarian cancer, familial, susceptibility to, 1 breast-ovarian cancer, familial, susceptibility to UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0011452 MONDO:0003037 True hypotrichosis 7 hypotrichosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0011456 MONDO:0019005 True nephronophthisis 3 nephronophthisis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0011458 MONDO:0018998 True Leber congenital amaurosis 4 Leber congenital amaurosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0011451 MONDO:0015487 True cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1 fatal infantile encephalocardiomyopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0011452 MONDO:0003037 True hypotrichosis 7 hypotrichosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0011454 MONDO:0016432 True patent ductus arteriosus-bicuspid aortic valve-hand anomalies syndrome heart-hand syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011456 MONDO:0019005 True nephronophthisis 3 nephronophthisis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0011458 MONDO:0018998 True Leber congenital amaurosis 4 Leber congenital amaurosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED MONDO:0011459 MONDO:0016342 True arrhythmogenic right ventricular dysplasia 5 familial isolated arrhythmogenic right ventricular dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0011460 MONDO:0016342 True arrhythmogenic right ventricular dysplasia 6 familial isolated arrhythmogenic right ventricular dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0011461 MONDO:0000032 True generalized epilepsy with febrile seizures plus, type 2 febrile seizures, familial UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0011461 MONDO:0018214 True generalized epilepsy with febrile seizures plus, type 2 generalized epilepsy with febrile seizures plus UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0011462 MONDO:0019751 True pyogenic arthritis-pyoderma gangrenosum-acne syndrome autoinflammatory syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011465 MONDO:0005341 True infundibulocystic basal cell carcinoma skin basal cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0011471 MONDO:0005265 True inflammatory bowel disease 3 inflammatory bowel disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0011473 MONDO:0018998 True Leber congenital amaurosis 5 Leber congenital amaurosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0011474 MONDO:0019490 True progressive familial heart block type IB progressive familial heart block UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0011461 MONDO:0018214 True generalized epilepsy with febrile seizures plus, type 2 generalized epilepsy with febrile seizures plus UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0011462 MONDO:0019751 True pyogenic arthritis-pyoderma gangrenosum-acne syndrome autoinflammatory syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011464 MONDO:0019793 True spinocerebellar ataxia type 11 autosomal dominant cerebellar ataxia type III UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011465 MONDO:0005341 True infundibulocystic basal cell carcinoma skin basal cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0011466 MONDO:0016108 True distal myopathy, Welander type autosomal dominant distal myopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011468 MONDO:0020127 True hereditary motor and sensory neuropathy, Okinawa type hereditary peripheral neuropathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011469 MONDO:0001713 True congenital amegakaryocytic thrombocytopenia inherited aplastic anemia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0011471 MONDO:0005265 True inflammatory bowel disease 3 inflammatory bowel disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0011472 MONDO:0019287 True epidermolysis bullosa simplex due to plakophilin deficiency ectodermal dysplasia syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0011473 MONDO:0018998 True Leber congenital amaurosis 5 Leber congenital amaurosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0011474 MONDO:0019490 True progressive familial heart block type IB progressive familial heart block UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0011475 MONDO:0018995 True Charcot-Marie-Tooth disease type 4B2 Charcot-Marie-Tooth disease type 4 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0011476 MONDO:0015131 True MHC class I deficiency combined immunodeficiency UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0011477 MONDO:0005486 True tooth agenesis, selective, 3 tooth agenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0011480 MONDO:0019587 True autosomal dominant nonsyndromic hearing loss 20 autosomal dominant nonsyndromic hearing loss UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0011479 MONDO:0000992 True postural orthostatic tachycardia syndrome heart conduction disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0011480 MONDO:0019587 True autosomal dominant nonsyndromic hearing loss 20 autosomal dominant nonsyndromic hearing loss UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0011481 MONDO:0015338 True craniosynostosis 2 syndromic craniosynostosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011482 MONDO:0016333 True dilated cardiomyopathy 1I familial dilated cardiomyopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0011484 MONDO:0017990 True catecholaminergic polymorphic ventricular tachycardia 1 catecholaminergic polymorphic ventricular tachycardia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0011485 MONDO:0017265 True autosomal recessive congenital ichthyosis 5 autosomal recessive congenital ichthyosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0011488 MONDO:0016660 True microcephaly 3, primary, autosomal recessive autosomal recessive primary microcephaly UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0011493 MONDO:0019354 True Stickler syndrome type 2 Stickler syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0011503 MONDO:0000193 True cortisone reductase deficiency 1 cortisone reductase deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0011514 MONDO:0005453 True tricuspid atresia congenital heart disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0011519 MONDO:0019587 True autosomal dominant nonsyndromic hearing loss 23 autosomal dominant nonsyndromic hearing loss UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0011521 MONDO:0005265 True inflammatory bowel disease 7 inflammatory bowel disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0011522 MONDO:0019064 True hereditary spastic paraplegia 14 hereditary spastic paraplegia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0011523 MONDO:0015229 True Bardet-Biedl syndrome 6 Bardet-Biedl syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0011484 MONDO:0017990 True catecholaminergic polymorphic ventricular tachycardia 1 catecholaminergic polymorphic ventricular tachycardia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0011485 MONDO:0017265 True autosomal recessive congenital ichthyosis 5 autosomal recessive congenital ichthyosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0011486 MONDO:0019950 True congenital muscular dystrophy 1B congenital muscular dystrophy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0011487 MONDO:0015548 True Huntington disease-like 3 Huntington disease-like syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011488 MONDO:0016660 True microcephaly 3, primary, autosomal recessive autosomal recessive primary microcephaly UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0011489 MONDO:0015149 True hereditary spastic paraplegia 12 pure hereditary spastic paraplegia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011493 MONDO:0019354 True Stickler syndrome type 2 Stickler syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0011496 MONDO:0022800 True mild spondyloepiphyseal dysplasia due to COL2A1 mutation with early-onset osteoarthritis type 2 collagenopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011497 MONDO:0015762 True hereditary North American Indian childhood cirrhosis progressive familial intrahepatic cholestasis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0011500 MONDO:0019755 True Becker nevus syndrome developmental defect during embryogenesis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011502 MONDO:0003847 True Wolfram syndrome 2 hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0011502 MONDO:0018105 True Wolfram syndrome 2 Wolfram syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0011503 MONDO:0000193 True cortisone reductase deficiency 1 cortisone reductase deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0011505 MONDO:0017774 True familial hypobetalipoproteinemia 2 hypobetalipoproteinemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0011510 MONDO:0015159 True Bohring-Opitz syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011512 MONDO:0000426 True Brooke-Spiegler syndrome autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0011514 MONDO:0020289 True tricuspid atresia congenital tricuspid malformation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011518 MONDO:0015159 True Wiedemann-Steiner syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011519 MONDO:0019587 True autosomal dominant nonsyndromic hearing loss 23 autosomal dominant nonsyndromic hearing loss UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0011521 MONDO:0005265 True inflammatory bowel disease 7 inflammatory bowel disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0011522 MONDO:0019064 True hereditary spastic paraplegia 14 hereditary spastic paraplegia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0011523 MONDO:0015229 True Bardet-Biedl syndrome 6 Bardet-Biedl syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0011524 MONDO:0016537 True Dianzani autoimmune lymphoproliferative disease lymphoproliferative syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0011527 MONDO:0018995 True Charcot-Marie-Tooth disease type 4E Charcot-Marie-Tooth disease type 4 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0011527 MONDO:0033352 True Charcot-Marie-Tooth disease type 4E neuropathy, congenital hypomelinating UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0011528 MONDO:0003947 True hyper-IgM syndrome type 2 hyper-IgM syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0011531 MONDO:0018997 True Noonan syndrome 2 Noonan syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0011532 MONDO:0019064 True hereditary spastic paraplegia 13 hereditary spastic paraplegia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0011535 MONDO:0016576 True split hand-foot malformation 4 split hand-foot malformation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0011528 MONDO:0003947 True hyper-IgM syndrome type 2 hyper-IgM syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0011528 MONDO:0006025 True hyper-IgM syndrome type 2 autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0011529 MONDO:0019792 True spinocerebellar ataxia type 13 autosomal dominant cerebellar ataxia type I UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011530 MONDO:0018230 True mesomelic dysplasia, Savarirayan type skeletal dysplasia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011531 MONDO:0018997 True Noonan syndrome 2 Noonan syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0011532 MONDO:0019064 True hereditary spastic paraplegia 13 hereditary spastic paraplegia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0011533 MONDO:0002254 True temtamy preaxial brachydactyly syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0011533 MONDO:0006025 True temtamy preaxial brachydactyly syndrome autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0011533 MONDO:0015286 True temtamy preaxial brachydactyly syndrome congenital disorder of glycosylation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0011533 MONDO:0015327 True temtamy preaxial brachydactyly syndrome developmental anomaly of metabolic origin UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011533 MONDO:0019054 True temtamy preaxial brachydactyly syndrome congenital limb malformation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011534 MONDO:0018995 True Charcot-Marie-Tooth disease type 4G Charcot-Marie-Tooth disease type 4 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0011535 MONDO:0016576 True split hand-foot malformation 4 split hand-foot malformation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED MONDO:0011536 MONDO:0043878 True optic atrophy 4 hereditary optic atrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0011539 MONDO:0018958 True nemaline myopathy 5 nemaline myopathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0011541 MONDO:0016333 True dilated cardiomyopathy 1J familial dilated cardiomyopathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0011537 MONDO:0000426 True macrocephaly-autism syndrome autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0011539 MONDO:0018958 True nemaline myopathy 5 nemaline myopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0011540 MONDO:0019792 True spinocerebellar ataxia type 14 autosomal dominant cerebellar ataxia type I UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011541 MONDO:0016333 True dilated cardiomyopathy 1J familial dilated cardiomyopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0011544 MONDO:0000448 True paragangliomas 3 paraganglioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0011545 MONDO:0000030 True autosomal dominant nocturnal frontal lobe epilepsy 3 sleep-related hypermotor epilepsy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0011545 MONDO:0020300 True autosomal dominant nocturnal frontal lobe epilepsy 3 autosomal dominant nocturnal frontal lobe epilepsy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0011546 MONDO:0018677 True heterotaxy, visceral, 2, autosomal visceral heterotaxy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0011549 MONDO:0003037 True hypotrichosis 1 hypotrichosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0011553 MONDO:0019588 True autosomal recessive nonsyndromic hearing loss 26 hearing loss, autosomal recessive UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0011558 MONDO:0016484 True Usher syndrome type 2C Usher syndrome type 2 UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0011559 MONDO:0019008 True benign recurrent intrahepatic cholestasis type 2 benign recurrent intrahepatic cholestasis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0011549 MONDO:0003037 True hypotrichosis 1 hypotrichosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0011551 MONDO:0016812 True TH-deficient dopa-responsive dystonia dopa-responsive dystonia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011551 MONDO:0017307 True TH-deficient dopa-responsive dystonia disorder of tyrosine metabolism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011552 MONDO:0005090 True schizophrenia 10 schizophrenia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED +MONDO:0011553 MONDO:0019588 True autosomal recessive nonsyndromic hearing loss 26 hearing loss, autosomal recessive UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0011555 MONDO:0018234 True radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome dysostosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011555 MONDO:0018795 True radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome syndromic constitutional thrombocytopenia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011555 MONDO:0019054 True radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome congenital limb malformation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011558 MONDO:0016484 True Usher syndrome type 2C Usher syndrome type 2 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0011559 MONDO:0019008 True benign recurrent intrahepatic cholestasis type 2 benign recurrent intrahepatic cholestasis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0011562 MONDO:0008199 True autosomal dominant Parkinson disease 4 late-onset Parkinson disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED MONDO:0011563 MONDO:0016070 True fibromatosis, gingival, 2 hereditary gingival fibromatosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0011564 MONDO:0015993 True cone-rod dystrophy 8 cone-rod dystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0011565 MONDO:0000816 True metabolic syndrome X abdominal obesity-metabolic syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0011564 MONDO:0015993 True cone-rod dystrophy 8 cone-rod dystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0011565 MONDO:0000816 True metabolic syndrome X abdominal obesity-metabolic syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED MONDO:0011566 MONDO:0000816 True abdominal obesity-metabolic syndrome quantitative trait locus 2 abdominal obesity-metabolic syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0011567 MONDO:0016333 True dilated cardiomyopathy 1K familial dilated cardiomyopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0011568 MONDO:0019587 True autosomal dominant nonsyndromic hearing loss 25 autosomal dominant nonsyndromic hearing loss UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0011576 MONDO:0016525 True familial hyperaldosteronism type II familial hyperaldosteronism UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0011582 MONDO:0017338 True multiple mitochondrial dysfunctions syndrome 1 fatal multiple mitochondrial dysfunctions syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0011583 MONDO:0005620 True cerebral amyloid angiopathy, APP-related cerebral amyloid angiopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0011584 MONDO:0019391 True Fanconi anemia complementation group D1 Fanconi anemia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0011568 MONDO:0019587 True autosomal dominant nonsyndromic hearing loss 25 autosomal dominant nonsyndromic hearing loss UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0011569 MONDO:0018993 True Charcot-Marie-Tooth disease type 2B1 Charcot-Marie-Tooth disease type 2 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0011569 MONDO:0021106 True Charcot-Marie-Tooth disease type 2B1 laminopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011570 MONDO:0018993 True Charcot-Marie-Tooth disease type 2B2 Charcot-Marie-Tooth disease type 2 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0011575 MONDO:0015159 True cerebrooculonasal syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011576 MONDO:0016525 True familial hyperaldosteronism type II familial hyperaldosteronism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0011577 MONDO:0019952 True myopathy, proximal, and ophthalmoplegia congenital myopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0011578 MONDO:0017896 True familial papillary thyroid carcinoma with renal papillary neoplasia familial nonmedullary thyroid carcinoma UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0011579 MONDO:0019118 True late-onset retinal degeneration inherited retinal dystrophy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0011581 MONDO:0019287 True arrhythmogenic cardiomyopathy with wooly hair and keratoderma ectodermal dysplasia syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS +MONDO:0011582 MONDO:0017338 True multiple mitochondrial dysfunctions syndrome 1 fatal multiple mitochondrial dysfunctions syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0011583 MONDO:0005620 True cerebral amyloid angiopathy, APP-related cerebral amyloid angiopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0011584 MONDO:0019391 True Fanconi anemia complementation group D1 Fanconi anemia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0011585 MONDO:0001516 True autosomal recessive distal spinal muscular atrophy 2 spinal muscular atrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0011585 MONDO:0015363 True autosomal recessive distal spinal muscular atrophy 2 neuronopathy, distal hereditary motor, autosomal recessive UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED MONDO:0011586 MONDO:0005349 True otosclerosis 2 otosclerosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0011588 MONDO:0000009 True platelet-type bleeding disorder 12 inherited bleeding disorder, platelet-type UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0011588 MONDO:0000009 True platelet-type bleeding disorder 12 inherited bleeding disorder, platelet-type UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED MONDO:0011589 MONDO:0000170 True microphthalmia with coloboma 2 microphthalmia, isolated, with coloboma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0011592 MONDO:0019516 True exudative vitreoretinopathy 3 exudative vitreoretinopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0011593 MONDO:0017615 True seizures, benign familial infantile, 2 benign familial infantile epilepsy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0011595 MONDO:0019284 True nonsyndromic congenital nail disorder 7 inherited isolated nail anomaly UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0011602 MONDO:0019588 True autosomal recessive nonsyndromic hearing loss 27 hearing loss, autosomal recessive UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0011612 MONDO:0005560 True glycine encephalopathy brain disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0011616 MONDO:0016296 True holoprosencephaly 6 holoprosencephaly UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0011625 MONDO:0019587 True autosomal dominant nonsyndromic hearing loss 18 autosomal dominant nonsyndromic hearing loss UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0011592 MONDO:0019516 True exudative vitreoretinopathy 3 exudative vitreoretinopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0011593 MONDO:0017615 True seizures, benign familial infantile, 2 benign familial infantile epilepsy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0011595 MONDO:0019284 True nonsyndromic congenital nail disorder 7 inherited isolated nail anomaly UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0011599 MONDO:0006918 True birdshot chorioretinopathy posterior uveitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0011601 MONDO:0016602 True neonatal intrahepatic cholestasis due to citrin deficiency citrin deficiency UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011602 MONDO:0019588 True autosomal recessive nonsyndromic hearing loss 27 hearing loss, autosomal recessive UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0011603 MONDO:0016112 True GNE myopathy hereditary inclusion-body myopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011603 MONDO:0017749 True GNE myopathy disorder of multiple glycosylation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011603 MONDO:0018795 True GNE myopathy syndromic constitutional thrombocytopenia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011612 MONDO:0004736 True glycine encephalopathy inborn disorder of amino acid metabolism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0011612 MONDO:0019239 True glycine encephalopathy inborn disorder of serine family metabolism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011613 MONDO:0017279 True autosomal recessive early-onset Parkinson disease 6 young-onset Parkinson disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0011614 MONDO:0017713 True 3-hydroxy-3-methylglutaryl-CoA synthase deficiency disorder of fatty acid oxidation and ketogenesis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011616 MONDO:0016296 True holoprosencephaly 6 holoprosencephaly UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0011620 MONDO:0018230 True metaphyseal dysplasia, Braun-Tinschert type skeletal dysplasia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011621 MONDO:0019054 True acropectoral syndrome congenital limb malformation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011624 MONDO:0019231 True transaldolase deficiency inborn disorder of pentose phosphate metabolism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011625 MONDO:0019587 True autosomal dominant nonsyndromic hearing loss 18 autosomal dominant nonsyndromic hearing loss UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED MONDO:0011627 MONDO:0020836 True autism, susceptibility to, 5 autism, susceptiblity to UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0011629 MONDO:0005501 True MOGS-congenital disorder of glycosylation congenital disorder of glycosylation type II UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0011630 MONDO:0019200 True retinitis pigmentosa 28 retinitis pigmentosa UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0011631 MONDO:0006507 True hemochromatosis type 4 hereditary hemochromatosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0011628 MONDO:0019215 True propionic acidemia classic organic aciduria UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011629 MONDO:0005501 True MOGS-congenital disorder of glycosylation congenital disorder of glycosylation type II UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0011629 MONDO:0017740 True MOGS-congenital disorder of glycosylation disorder of protein N-glycosylation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011630 MONDO:0019200 True retinitis pigmentosa 28 retinitis pigmentosa UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0011631 MONDO:0006507 True hemochromatosis type 4 hereditary hemochromatosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED MONDO:0011632 MONDO:0005144 True amyotrophic lateral sclerosis type 21 familial amyotrophic lateral sclerosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0011633 MONDO:0018993 True Charcot-Marie-Tooth disease axonal type 2C Charcot-Marie-Tooth disease type 2 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0011635 MONDO:0000334 True goiter, multinodular 3 multinodular goiter UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0011636 MONDO:0015253 True Diamond-Blackfan anemia 2 Diamond-Blackfan anemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0011638 MONDO:0018307 True neuroferritinopathy neurodegeneration with brain iron accumulation UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0011639 MONDO:0015253 True Diamond-Blackfan anemia 15 with mandibulofacial dysostosis Diamond-Blackfan anemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0011655 MONDO:0018078 True alveolar soft part sarcoma soft tissue sarcoma UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011656 MONDO:0005382 True paget disease of bone 4 bone Paget disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0011657 MONDO:0019587 True autosomal dominant nonsyndromic hearing loss 24 autosomal dominant nonsyndromic hearing loss UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0011636 MONDO:0015253 True Diamond-Blackfan anemia 2 Diamond-Blackfan anemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0011638 MONDO:0015548 True neuroferritinopathy Huntington disease-like syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011638 MONDO:0017763 True neuroferritinopathy disorder of iron metabolism and transport UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011638 MONDO:0018307 True neuroferritinopathy neurodegeneration with brain iron accumulation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0011639 MONDO:0015253 True Diamond-Blackfan anemia 15 with mandibulofacial dysostosis Diamond-Blackfan anemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0011640 MONDO:0015159 True genitopatellar syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011640 MONDO:0018234 True genitopatellar syndrome dysostosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011644 MONDO:0004674 True pars planitis chorioretinitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0011652 MONDO:0003847 True Phelan-McDermid syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0011652 MONDO:0022760 True Phelan-McDermid syndrome chromosome 22q deletion UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011655 MONDO:0018078 True alveolar soft part sarcoma soft tissue sarcoma UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011656 MONDO:0005382 True paget disease of bone 4 bone Paget disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0011657 MONDO:0019587 True autosomal dominant nonsyndromic hearing loss 24 autosomal dominant nonsyndromic hearing loss UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0011658 MONDO:0017279 True autosomal recessive early-onset Parkinson disease 7 young-onset Parkinson disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0011659 MONDO:0018677 True heterotaxy, visceral, 3, autosomal visceral heterotaxy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0011660 MONDO:0019587 True autosomal dominant nonsyndromic hearing loss 22 autosomal dominant nonsyndromic hearing loss UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0011661 MONDO:0005265 True inflammatory bowel disease 5 inflammatory bowel disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0011662 MONDO:0001162 True pathological gambling impulse control disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0011660 MONDO:0019587 True autosomal dominant nonsyndromic hearing loss 22 autosomal dominant nonsyndromic hearing loss UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0011661 MONDO:0005265 True inflammatory bowel disease 5 inflammatory bowel disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0011662 MONDO:0001162 True pathological gambling impulse control disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0011664 MONDO:0021094 True immunodeficiency due to CD25 deficiency immunodeficiency disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0011667 MONDO:0018911 True maturity-onset diabetes of the young type 4 maturity-onset diabetes of the young UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS -MONDO:0011668 MONDO:0018911 True maturity-onset diabetes of the young type 6 maturity-onset diabetes of the young UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS -MONDO:0011670 MONDO:0020066 True Ehlers-Danlos syndrome due to tenascin-X deficiency Ehlers-Danlos syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0011673 MONDO:0019587 True autosomal dominant nonsyndromic hearing loss 30 autosomal dominant nonsyndromic hearing loss UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0011681 MONDO:0016227 True episodic ataxia type 4 hereditary episodic ataxia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0011682 MONDO:0016227 True episodic ataxia type 3 hereditary episodic ataxia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0011683 MONDO:0018910 True oculocutaneous albinism type 4 oculocutaneous albinism UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0011686 MONDO:0002254 True DNA ligase IV deficiency syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0011688 MONDO:0000172 True muscular dystrophy-dystroglycanopathy type B5 muscular dystrophy-dystroglycanopathy, type B UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0011667 MONDO:0018911 True maturity-onset diabetes of the young type 4 maturity-onset diabetes of the young UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED +MONDO:0011668 MONDO:0018911 True maturity-onset diabetes of the young type 6 maturity-onset diabetes of the young UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED +MONDO:0011669 MONDO:0002254 True hypotonia-cystinuria syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0011669 MONDO:0016884 True hypotonia-cystinuria syndrome partial deletion of the short arm of chromosome 2 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011669 MONDO:0019216 True hypotonia-cystinuria syndrome inborn disorder of amino acid transport UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011670 MONDO:0020066 True Ehlers-Danlos syndrome due to tenascin-X deficiency Ehlers-Danlos syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0011671 MONDO:0016987 True Huntington disease-like 2 neuroacanthocytosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0011672 MONDO:0015757 True persistent polyclonal B-cell lymphocytosis lymphoid hemopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011673 MONDO:0019587 True autosomal dominant nonsyndromic hearing loss 30 autosomal dominant nonsyndromic hearing loss UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0011674 MONDO:0019548 True Charcot-Marie-Tooth disease dominant intermediate B autosomal dominant intermediate Charcot-Marie-Tooth disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011675 MONDO:0019548 True Charcot-Marie-Tooth Disease, axonal, type 2GG autosomal dominant intermediate Charcot-Marie-Tooth disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011676 MONDO:0020022 True PHACE syndrome central nervous system malformation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011681 MONDO:0016227 True episodic ataxia type 4 hereditary episodic ataxia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0011682 MONDO:0016227 True episodic ataxia type 3 hereditary episodic ataxia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0011683 MONDO:0018910 True oculocutaneous albinism type 4 oculocutaneous albinism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0011687 MONDO:0018993 True Charcot-Marie-Tooth disease axonal type 2F Charcot-Marie-Tooth disease type 2 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0011688 MONDO:0000172 True muscular dystrophy-dystroglycanopathy type B5 muscular dystrophy-dystroglycanopathy, type B UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED MONDO:0011691 MONDO:0005144 True amyotrophic lateral sclerosis type 3 familial amyotrophic lateral sclerosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0011699 MONDO:0005265 True inflammatory bowel disease 8 inflammatory bowel disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0011700 MONDO:0005265 True inflammatory bowel disease 6 inflammatory bowel disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0011701 MONDO:0005265 True inflammatory bowel disease 4 inflammatory bowel disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0011694 MONDO:0019792 True spinocerebellar ataxia type 15/16 autosomal dominant cerebellar ataxia type I UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011698 MONDO:0000351 True glycine N-methyltransferase deficiency disorder of methionine catabolism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0011699 MONDO:0005265 True inflammatory bowel disease 8 inflammatory bowel disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0011700 MONDO:0005265 True inflammatory bowel disease 6 inflammatory bowel disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0011701 MONDO:0005265 True inflammatory bowel disease 4 inflammatory bowel disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED MONDO:0011702 MONDO:0016333 True dilated cardiomyopathy 1L familial dilated cardiomyopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0011705 MONDO:0006359 True lymphangioleiomyomatosis neoplasm with perivascular epithelioid cell differentiation UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011708 MONDO:0019587 True autosomal dominant nonsyndromic hearing loss 36 autosomal dominant nonsyndromic hearing loss UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0011709 MONDO:0016576 True split hand-foot malformation 5 split hand-foot malformation UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0011706 MONDO:0018307 True Kufor-Rakeb syndrome neurodegeneration with brain iron accumulation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS +MONDO:0011708 MONDO:0019587 True autosomal dominant nonsyndromic hearing loss 36 autosomal dominant nonsyndromic hearing loss UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0011709 MONDO:0016576 True split hand-foot malformation 5 split hand-foot malformation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED MONDO:0011711 MONDO:0000724 True specific language impairment 2 specific language impairment UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0011715 MONDO:0019342 True Seckel syndrome 2 Seckel syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0011716 MONDO:0003337 True acute hemorrhagic leukoencephalitis acute hemorrhagic encephalitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0011718 MONDO:0016575 True primary ciliary dyskinesia 2 primary ciliary dyskinesia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0011720 MONDO:0004983 True spermatogenic failure 3 spermatogenic failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0011721 MONDO:0018949 True distal myopathy with anterior tibial onset distal myopathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0011715 MONDO:0019342 True Seckel syndrome 2 Seckel syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0011716 MONDO:0019383 True acute hemorrhagic leukoencephalitis acute disseminated encephalomyelitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0011717 MONDO:0015624 True hyperinsulinism-hyperammonemia syndrome diazoxide-sensitive diffuse hyperinsulinism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011718 MONDO:0016575 True primary ciliary dyskinesia 2 primary ciliary dyskinesia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0011719 MONDO:0018506 True gastrointestinal stromal tumor mesenchymal tumor of small intestine UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011720 MONDO:0004983 True spermatogenic failure 3 spermatogenic failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0011721 MONDO:0016145 True distal myopathy with anterior tibial onset qualitative or quantitative defects of dysferlin UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011721 MONDO:0018949 True distal myopathy with anterior tibial onset distal myopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0011722 MONDO:0015159 True intellectual disability-obesity-prognathism-eye and skin anomalies syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011724 MONDO:0000188 True encephalopathy due to GLUT1 deficiency GLUT1 deficiency syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0011735 MONDO:0003947 True hyper-IgM syndrome type 3 hyper-IgM syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0011740 MONDO:0015356 True Carney-Stratakis syndrome hereditary neoplastic syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011752 MONDO:0019005 True nephronophthisis 4 nephronophthisis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0011725 MONDO:0009044 True Crigler-Najjar syndrome type 2 Crigler-Najjar syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011728 MONDO:0000477 True benign essential blepharospasm focal dystonia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0011730 MONDO:0016790 True fumaric aciduria tricarboxylic acid cycle disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011730 MONDO:0020127 True fumaric aciduria hereditary peripheral neuropathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011731 MONDO:0019226 True glucose-galactose malabsorption glucose transport disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011732 MONDO:0018240 True familial digital arthropathy-brachydactyly TRPV4-related bone disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011732 MONDO:0019054 True familial digital arthropathy-brachydactyly congenital limb malformation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011735 MONDO:0003947 True hyper-IgM syndrome type 3 hyper-IgM syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0011738 MONDO:0003847 True bilateral frontoparietal polymicrogyria hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0011738 MONDO:0017091 True bilateral frontoparietal polymicrogyria bilateral polymicrogyria UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011740 MONDO:0015079 True Carney-Stratakis syndrome multiple polyglandular tumor UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011744 MONDO:0016223 True primary intraosseous venous malformation infantile hemangioma of rare localization UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011748 MONDO:0010168 True Usher syndrome type 1G Usher syndrome type 1 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0011752 MONDO:0019005 True nephronophthisis 4 nephronophthisis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED MONDO:0011755 MONDO:0017842 True senior-loken syndrome 3 Senior-Loken syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0011756 MONDO:0017842 True Senior-Loken syndrome 4 Senior-Loken syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0011758 MONDO:0001586 True Hurler syndrome mucopolysaccharidosis type 1 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0011758 MONDO:0002254 True Hurler syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0011759 MONDO:0001586 True Hurler-Scheie syndrome mucopolysaccharidosis type 1 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0011759 MONDO:0002254 True Hurler-Scheie syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0011760 MONDO:0001586 True Scheie syndrome mucopolysaccharidosis type 1 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0011760 MONDO:0002254 True Scheie syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0011761 MONDO:0019587 True autosomal dominant nonsyndromic hearing loss 21 autosomal dominant nonsyndromic hearing loss UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0011762 MONDO:0019588 True autosomal recessive nonsyndromic hearing loss 22 hearing loss, autosomal recessive UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0011765 MONDO:0016648 True multiple epiphyseal dysplasia type 5 multiple epiphyseal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0011767 MONDO:0019588 True autosomal recessive nonsyndromic hearing loss 31 hearing loss, autosomal recessive UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0011757 MONDO:0021004 True brachydactyly type A1B brachydactyly UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0011758 MONDO:0001586 True Hurler syndrome mucopolysaccharidosis type 1 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0011758 MONDO:0016340 True Hurler syndrome familial restrictive cardiomyopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0011758 MONDO:0800088 True Hurler syndrome lysosomal storage disease with skeletal involvement UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011759 MONDO:0001586 True Hurler-Scheie syndrome mucopolysaccharidosis type 1 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0011759 MONDO:0800088 True Hurler-Scheie syndrome lysosomal storage disease with skeletal involvement UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011760 MONDO:0001586 True Scheie syndrome mucopolysaccharidosis type 1 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0011760 MONDO:0800088 True Scheie syndrome lysosomal storage disease with skeletal involvement UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011761 MONDO:0019587 True autosomal dominant nonsyndromic hearing loss 21 autosomal dominant nonsyndromic hearing loss UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0011762 MONDO:0019588 True autosomal recessive nonsyndromic hearing loss 22 hearing loss, autosomal recessive UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0011764 MONDO:0008199 True autosomal dominant Parkinson disease 8 late-onset Parkinson disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED +MONDO:0011765 MONDO:0016648 True multiple epiphyseal dysplasia type 5 multiple epiphyseal dysplasia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0011766 MONDO:0020040 True 46,XY gonadal dysgenesis-motor and sensory neuropathy syndrome 46,XY disorder of sex development UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011767 MONDO:0019588 True autosomal recessive nonsyndromic hearing loss 31 hearing loss, autosomal recessive UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED MONDO:0011770 MONDO:0019625 True aortic aneurysm, familial thoracic 2 familial thoracic aortic aneurysm and aortic dissection UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0011772 MONDO:0005501 True B4GALT1-congenital disorder of glycosylation congenital disorder of glycosylation type II UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0011774 MONDO:0019588 True autosomal recessive nonsyndromic hearing loss 30 hearing loss, autosomal recessive UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0011771 MONDO:0001516 True neuronopathy, distal hereditary motor, autosomal recessive 3 spinal muscular atrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0011771 MONDO:0015363 True neuronopathy, distal hereditary motor, autosomal recessive 3 neuronopathy, distal hereditary motor, autosomal recessive UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0011772 MONDO:0005501 True B4GALT1-congenital disorder of glycosylation congenital disorder of glycosylation type II UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0011772 MONDO:0015327 True B4GALT1-congenital disorder of glycosylation developmental anomaly of metabolic origin UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011772 MONDO:0017749 True B4GALT1-congenital disorder of glycosylation disorder of multiple glycosylation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011772 MONDO:0020022 True B4GALT1-congenital disorder of glycosylation central nervous system malformation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011774 MONDO:0019588 True autosomal recessive nonsyndromic hearing loss 30 hearing loss, autosomal recessive UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0011776 MONDO:0016168 True CINCA syndrome cryopyrin-associated periodic syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011778 MONDO:0016648 True multiple epiphyseal dysplasia, Al-Gazali type multiple epiphyseal dysplasia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0011780 MONDO:0000724 True specific language impairment 3 specific language impairment UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0011783 MONDO:0005500 True ALG12-congenital disorder of glycosylation congenital disorder of glycosylation type I UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0011784 MONDO:0016820 True Moyamoya disease 2 Moyamoya disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0011786 MONDO:0003014 True allergic rhinitis rhinitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0011787 MONDO:0015152 True autosomal recessive limb-girdle muscular dystrophy type 2I autosomal recessive limb-girdle muscular dystrophy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0011789 MONDO:0016642 True familial meningioma meningioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0011781 MONDO:0015548 True spinocerebellar ataxia type 17 Huntington disease-like syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011781 MONDO:0019792 True spinocerebellar ataxia type 17 autosomal dominant cerebellar ataxia type I UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011782 MONDO:0005283 True angioid streaks retinal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0011783 MONDO:0005500 True ALG12-congenital disorder of glycosylation congenital disorder of glycosylation type I UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0011783 MONDO:0017740 True ALG12-congenital disorder of glycosylation disorder of protein N-glycosylation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011784 MONDO:0016820 True Moyamoya disease 2 Moyamoya disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0011785 MONDO:0015149 True hereditary spastic paraplegia 19 pure hereditary spastic paraplegia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011786 MONDO:0000771 True allergic rhinitis allergic respiratory disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0011786 MONDO:0003014 True allergic rhinitis rhinitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0011787 MONDO:0015152 True autosomal recessive limb-girdle muscular dystrophy type 2I autosomal recessive limb-girdle muscular dystrophy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0011787 MONDO:0016156 True autosomal recessive limb-girdle muscular dystrophy type 2I qualitative or quantitative defects of FKRP UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011788 MONDO:0015338 True cloverleaf skull-multiple congenital anomalies syndrome syndromic craniosynostosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011789 MONDO:0016642 True familial meningioma meningioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0011790 MONDO:0000152 True Amish lethal microcephaly thiamine-responsive dysfunction syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0011799 MONDO:0019588 True autosomal recessive nonsyndromic hearing loss 33 hearing loss, autosomal recessive UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0011792 MONDO:0010132 True thyroid dyshormonogenesis 6 familial thyroid dyshormonogenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0011795 MONDO:0015161 True anonychia-microcephaly syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011799 MONDO:0019588 True autosomal recessive nonsyndromic hearing loss 33 hearing loss, autosomal recessive UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED MONDO:0011800 MONDO:0100242 True glioma susceptibility 4 glioma susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0011801 MONDO:0020127 True spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1 hereditary peripheral neuropathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011801 MONDO:0020771 True spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1 spinocerebellar ataxia, autosomal recessive, with axonal neuropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0011803 MONDO:0019064 True hereditary spastic paraplegia 7 hereditary spastic paraplegia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0011814 MONDO:0015799 True Smith-McCort dysplasia 1 Smith-McCort dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0011821 MONDO:0018921 True Meckel syndrome, type 3 Meckel syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0011822 MONDO:0015231 True Bartter disease type 3 Bartter syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0011803 MONDO:0016387 True hereditary spastic paraplegia 7 mitochondrial oxidative phosphorylation disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011803 MONDO:0019064 True hereditary spastic paraplegia 7 hereditary spastic paraplegia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0011803 MONDO:0100309 True hereditary spastic paraplegia 7 hereditary ataxia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0011804 MONDO:0017979 True autoimmune lymphoproliferative syndrome type 2B autoimmune lymphoproliferative syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0011806 MONDO:0018230 True osteofibrous dysplasia skeletal dysplasia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011811 MONDO:0020047 True autosomal recessive cerebellar ataxia-saccadic intrusion syndrome autosomal recessive syndromic cerebellar ataxia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011812 MONDO:0000426 True Duane-radial ray syndrome autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0011812 MONDO:0002254 True Duane-radial ray syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0011812 MONDO:0018234 True Duane-radial ray syndrome dysostosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0011812 MONDO:0019054 True Duane-radial ray syndrome congenital limb malformation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011814 MONDO:0015799 True Smith-McCort dysplasia 1 Smith-McCort dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0011818 MONDO:0019009 True isolated focal cortical dysplasia type II isolated focal cortical dysplasia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011819 MONDO:0019792 True spinocerebellar ataxia type 19/22 autosomal dominant cerebellar ataxia type I UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011821 MONDO:0018921 True Meckel syndrome, type 3 Meckel syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0011822 MONDO:0015231 True Bartter disease type 3 Bartter syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0011823 MONDO:0015161 True developmental malformations-deafness-dystonia syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011823 MONDO:0044807 True developmental malformations-deafness-dystonia syndrome inherited dystonia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0011824 MONDO:0020836 True autism, susceptibility to, 8 autism, susceptiblity to UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0011826 MONDO:0008733 True glucocorticoid deficiency 2 familial glucocorticoid deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0011827 MONDO:0005385 True patent ductus arteriosus vascular disorder UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0011828 MONDO:0019502 True intellectual disability, autosomal recessive 2 autosomal recessive non-syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0011829 MONDO:0018151 True coenzyme Q10 deficiency, primary, 1 coenzyme Q10 deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0011826 MONDO:0008733 True glucocorticoid deficiency 2 familial glucocorticoid deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0011827 MONDO:0005453 True patent ductus arteriosus congenital heart disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0011828 MONDO:0019502 True intellectual disability, autosomal recessive 2 autosomal recessive non-syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0011829 MONDO:0018151 True coenzyme Q10 deficiency, primary, 1 coenzyme Q10 deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0011830 MONDO:0015146 True lissencephaly due to LIS1 mutation classic lissencephaly UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011831 MONDO:0016342 True arrhythmogenic right ventricular dysplasia 8 familial isolated arrhythmogenic right ventricular dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0011832 MONDO:0019587 True autosomal dominant nonsyndromic hearing loss 44 autosomal dominant nonsyndromic hearing loss UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0011837 MONDO:0015722 True vitamin K-dependent clotting factors, combined deficiency of, type 2 congenital vitamin K-dependent coagulation factors deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0011832 MONDO:0019587 True autosomal dominant nonsyndromic hearing loss 44 autosomal dominant nonsyndromic hearing loss UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0011833 MONDO:0019792 True spinocerebellar ataxia type 21 autosomal dominant cerebellar ataxia type I UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011834 MONDO:0019792 True spinocerebellar ataxia type 18 autosomal dominant cerebellar ataxia type I UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011835 MONDO:0009637 True sensory ataxic neuropathy, dysarthria, and ophthalmoparesis inborn mitochondrial myopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0011835 MONDO:0016798 True sensory ataxic neuropathy, dysarthria, and ophthalmoparesis ataxia neuropathy spectrum UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011835 MONDO:0020127 True sensory ataxic neuropathy, dysarthria, and ophthalmoparesis hereditary peripheral neuropathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011836 MONDO:0005034 True thyroid Hurthle cell carcinoma thyroid gland follicular carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0011837 MONDO:0015722 True vitamin K-dependent clotting factors, combined deficiency of, type 2 congenital vitamin K-dependent coagulation factors deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0011839 MONDO:0015993 True Newfoundland cone-rod dystrophy cone-rod dystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED MONDO:0011840 MONDO:0016333 True dilated cardiomyopathy 1M familial dilated cardiomyopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0011841 MONDO:0000152 True biotin-responsive basal ganglia disease thiamine-responsive dysfunction syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0011843 MONDO:0024573 True hypertrophic cardiomyopathy 25 familial hypertrophic cardiomyopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0011841 MONDO:0003996 True biotin-responsive basal ganglia disease basal ganglia disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0011842 MONDO:0017276 True GRN-related frontotemporal lobar degeneration with Tdp43 inclusions frontotemporal dementia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0011843 MONDO:0024573 True hypertrophic cardiomyopathy 25 familial hypertrophic cardiomyopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0011844 MONDO:0000903 True myoclonic dystonia 15 myoclonus-dystonia syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0011845 MONDO:0100246 True migraine with or without aura, susceptibility to, 3 migraine with or without aura, susceptibility to UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0011847 MONDO:0100246 True migraine without aura, susceptibility to, 4 migraine with or without aura, susceptibility to UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0011850 MONDO:0100246 True migraine with or without aura, susceptibility to, 5 migraine with or without aura, susceptibility to UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0011851 MONDO:0100246 True migraine with or without aura, susceptibility to, 6 migraine with or without aura, susceptibility to UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0011852 MONDO:0019284 True nonsyndromic congenital nail disorder 8 inherited isolated nail anomaly UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0011852 MONDO:0019284 True nonsyndromic congenital nail disorder 8 inherited isolated nail anomaly UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0011855 MONDO:0000764 True granular corneal dystrophy type II epithelial-stromal TGFBI dystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0011855 MONDO:0020213 True granular corneal dystrophy type II stromal corneal dystrophy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0011856 MONDO:0016763 True spondylometaphyseal dysplasia-bowed forearms-facial dysmorphism syndrome spondylometaphyseal dysplasia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED MONDO:0011857 MONDO:0018054 True atrial fibrillation, familial, 3 familial atrial fibrillation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0011864 MONDO:0015517 True immunodeficiency, common variable, 1 common variable immunodeficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0011868 MONDO:0017436 True lethal congenital contracture syndrome 2 lethal congenital contracture syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0011872 MONDO:0018306 True Griscelli syndrome type 2 Griscelli syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0011864 MONDO:0015517 True immunodeficiency, common variable, 1 common variable immunodeficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0011866 MONDO:0016396 True pontocerebellar hypoplasia type 1A pontocerebellar hypoplasia type 1 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0011868 MONDO:0015161 True lethal congenital contracture syndrome 2 multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011868 MONDO:0017436 True lethal congenital contracture syndrome 2 lethal congenital contracture syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0011871 MONDO:0017014 True Niemann-Pick disease type B interstitial lung disease specific to childhood UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011871 MONDO:0020127 True Niemann-Pick disease type B hereditary peripheral neuropathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011872 MONDO:0015134 True Griscelli syndrome type 2 constitutional neutropenia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011872 MONDO:0015541 True Griscelli syndrome type 2 hereditary hemophagocytic lymphohistiocytosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0011872 MONDO:0018306 True Griscelli syndrome type 2 Griscelli syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0011874 MONDO:0015947 True neonatal ichthyosis-sclerosing cholangitis syndrome inherited ichthyosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011874 MONDO:0018646 True neonatal ichthyosis-sclerosing cholangitis syndrome sclerosing cholangitis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011876 MONDO:0015653 True juvenile absence epilepsy monogenic epilepsy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011877 MONDO:0020645 True autosomal dominant osteopetrosis 1 autosomal dominant osteopetrosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0011879 MONDO:0015355 True neuronopathy, distal hereditary motor, type 7B distal hereditary motor neuropathy type 7 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0011880 MONDO:0015279 True candidiasis, familial, 3 chronic mucocutaneous candidiasis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0011885 MONDO:0002254 True tubulointerstitial nephritis and uveitis syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011881 MONDO:0018865 True keratosis palmoplantaris striata 3 striate palmoplantar keratoderma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0011882 MONDO:0017666 True skin fragility-woolly hair-palmoplantar keratoderma syndrome diffuse palmoplantar keratoderma UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011883 MONDO:0017666 True Curly hair - acral keratoderma - caries syndrome diffuse palmoplantar keratoderma UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011883 MONDO:0019287 True Curly hair - acral keratoderma - caries syndrome ectodermal dysplasia syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0011884 MONDO:0017672 True hypotrichosis-osteolysis-periodontitis-palmoplantar keratoderma syndrome focal palmoplantar keratoderma UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011884 MONDO:0019287 True hypotrichosis-osteolysis-periodontitis-palmoplantar keratoderma syndrome ectodermal dysplasia syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0011886 MONDO:0015990 True torsion dystonia 13 focal, segmental or multifocal dystonia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011888 MONDO:0015979 True immunodeficiency 67 hereditary predisposition to infections UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011888 MONDO:0021094 True immunodeficiency 67 immunodeficiency disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0011891 MONDO:0000032 True febrile seizures, familial, 8 febrile seizures, familial UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0011889 MONDO:0018993 True Charcot-Marie-Tooth disease type 2I Charcot-Marie-Tooth disease type 2 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0011890 MONDO:0019011 True Charcot-Marie-Tooth disease type 1D Charcot-Marie-Tooth disease type 1 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0011891 MONDO:0000032 True febrile seizures, familial, 8 febrile seizures, familial UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED MONDO:0011891 MONDO:0010826 True febrile seizures, familial, 8 childhood absence epilepsy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS MONDO:0011891 MONDO:0018214 True febrile seizures, familial, 8 generalized epilepsy with febrile seizures plus UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0011893 MONDO:0019587 True autosomal dominant nonsyndromic hearing loss 52 autosomal dominant nonsyndromic hearing loss UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0011897 MONDO:0019046 True leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome leukodystrophy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0011904 MONDO:0017615 True seizures, benign familial infantile, 3 benign familial infantile epilepsy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0011906 MONDO:0018841 True congenital bile acid synthesis defect 1 congenital bile acid synthesis defect UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0011912 MONDO:0019588 True autosomal recessive nonsyndromic hearing loss 37 hearing loss, autosomal recessive UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0011893 MONDO:0019587 True autosomal dominant nonsyndromic hearing loss 52 autosomal dominant nonsyndromic hearing loss UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0011894 MONDO:0018993 True Charcot-Marie-Tooth disease type 2E Charcot-Marie-Tooth disease type 2 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0011895 MONDO:0015691 True idiopathic hypereosinophilic syndrome hypereosinophilic syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011897 MONDO:0019046 True leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome leukodystrophy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0011899 MONDO:0020297 True Noonan syndrome-like disorder with loose anagen hair Noonan syndrome and Noonan-related syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011901 MONDO:0018993 True Charcot-Marie-Tooth disease axonal type 2H Charcot-Marie-Tooth disease type 2 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0011902 MONDO:0019011 True Charcot-Marie-Tooth disease type 1F Charcot-Marie-Tooth disease type 1 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0011903 MONDO:0018993 True Charcot-Marie-Tooth disease type 2J Charcot-Marie-Tooth disease type 2 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0011904 MONDO:0017615 True seizures, benign familial infantile, 3 benign familial infantile epilepsy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0011906 MONDO:0018841 True congenital bile acid synthesis defect 1 congenital bile acid synthesis defect UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0011907 MONDO:0005516 True acrocapitofemoral dysplasia osteochondrodysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0011907 MONDO:0019695 True acrocapitofemoral dysplasia acromelic dysplasia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011909 MONDO:0019548 True Charcot-Marie-Tooth disease dominant intermediate D autosomal dominant intermediate Charcot-Marie-Tooth disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011911 MONDO:0003847 True craniolenticulosutural dysplasia hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0011911 MONDO:0015161 True craniolenticulosutural dysplasia multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011912 MONDO:0019588 True autosomal recessive nonsyndromic hearing loss 37 hearing loss, autosomal recessive UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED MONDO:0011915 MONDO:0008004 True mitral valve prolapse, myxomatous 2 familial mitral valve prolapse UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0011920 MONDO:0019587 True autosomal dominant nonsyndromic hearing loss 48 autosomal dominant nonsyndromic hearing loss UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0011916 MONDO:0018993 True Charcot-Marie-Tooth disease axonal type 2K Charcot-Marie-Tooth disease type 2 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0011920 MONDO:0019587 True autosomal dominant nonsyndromic hearing loss 48 autosomal dominant nonsyndromic hearing loss UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0011924 MONDO:0031240 True panic disorder 2 familial panic disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0011925 MONDO:0019950 True congenital merosin-deficient muscular dystrophy 1A congenital muscular dystrophy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0011927 MONDO:0003110 True tufted angioma skin hemangioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011930 MONDO:0000160 True epilepsy, familial adult myoclonic, 2 epilepsy, familial adult myoclonic UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0011932 MONDO:0003037 True hypotrichosis 6 hypotrichosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0011933 MONDO:0005500 True ALG2-congenital disorder of glycosylation congenital disorder of glycosylation type I UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0011935 MONDO:0019200 True retinitis pigmentosa 30 retinitis pigmentosa UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0011936 MONDO:0016073 True microphthalmia with brain and digit anomalies syndromic microphthalmia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0011929 MONDO:0016883 True chromosome 1p36 deletion syndrome partial deletion of the short arm of chromosome 1 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011930 MONDO:0000160 True epilepsy, familial adult myoclonic, 2 epilepsy, familial adult myoclonic UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0011932 MONDO:0003037 True hypotrichosis 6 hypotrichosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0011933 MONDO:0005500 True ALG2-congenital disorder of glycosylation congenital disorder of glycosylation type I UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0011933 MONDO:0017740 True ALG2-congenital disorder of glycosylation disorder of protein N-glycosylation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011934 MONDO:0005164 True dermatofibrosarcoma protuberans fibrosarcoma UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0011935 MONDO:0019200 True retinitis pigmentosa 30 retinitis pigmentosa UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0011936 MONDO:0016073 True microphthalmia with brain and digit anomalies syndromic microphthalmia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED MONDO:0011937 MONDO:0019347 True peeling skin syndrome 4 peeling skin syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0011938 MONDO:0006664 True atrial septal defect 2 atrial septal defect UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0011939 MONDO:0016763 True Spondyloenchondrodysplasia with immune dysregulation spondylometaphyseal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0011948 MONDO:0020135 True pontocerebellar hypoplasia type 3 pontocerebellar hypoplasia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0011950 MONDO:0015244 True infantile-onset autosomal recessive nonprogressive cerebellar ataxia autosomal recessive cerebellar ataxia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0011938 MONDO:0006664 True atrial septal defect 2 atrial septal defect UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0011939 MONDO:0016763 True Spondyloenchondrodysplasia with immune dysregulation spondylometaphyseal dysplasia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0011945 MONDO:0018150 True Gaucher disease perinatal lethal Gaucher disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0011946 MONDO:0019694 True diaphanospondylodysostosis spondylodysplastic dysplasia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011948 MONDO:0020135 True pontocerebellar hypoplasia type 3 pontocerebellar hypoplasia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0011950 MONDO:0015244 True infantile-onset autosomal recessive nonprogressive cerebellar ataxia autosomal recessive cerebellar ataxia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED MONDO:0011951 MONDO:0005144 True amyotrophic lateral sclerosis type 6 familial amyotrophic lateral sclerosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0011952 MONDO:0005144 True amyotrophic lateral sclerosis type 7 familial amyotrophic lateral sclerosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0011953 MONDO:0000166 True familial acute necrotizing encephalopathy encephalopathy, acute, infection-induced UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0011954 MONDO:0024462 True melanoma, cutaneous malignant, susceptibility to, 4 susceptibility to familial cutaneous melanoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0011956 MONDO:0020836 True autism, susceptibility to, 3 autism, susceptiblity to UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0011959 MONDO:0002254 True sweet syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0011962 MONDO:0002715 True endometrial cancer uterine cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0011957 MONDO:0031166 True retinal macular dystrophy type 2 macular dystrophy, retinal UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0011959 MONDO:0005093 True sweet syndrome skin disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0011960 MONDO:0005090 True schizophrenia 11 schizophrenia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED +MONDO:0011962 MONDO:0002715 True endometrial cancer uterine cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0011962 MONDO:0021251 True endometrial cancer endometrium neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011963 MONDO:0018772 True Joubert syndrome 2 Joubert syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0011964 MONDO:0005500 True DPAGT1-congenital disorder of glycosylation congenital disorder of glycosylation type I UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0011965 MONDO:0005115 True familial temporal lobe epilepsy 2 temporal lobe epilepsy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0011963 MONDO:0018772 True Joubert syndrome 2 Joubert syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0011964 MONDO:0005500 True DPAGT1-congenital disorder of glycosylation congenital disorder of glycosylation type I UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0011964 MONDO:0017740 True DPAGT1-congenital disorder of glycosylation disorder of protein N-glycosylation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011965 MONDO:0005115 True familial temporal lobe epilepsy 2 temporal lobe epilepsy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED MONDO:0011966 MONDO:0020341 True periventricular heterotopia with microcephaly, autosomal recessive periventricular nodular heterotopia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0011967 MONDO:0020341 True heterotopia, periventricular, associated with chromosome 5P anomalies periventricular nodular heterotopia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0011968 MONDO:0015152 True autosomal recessive limb-girdle muscular dystrophy type 2D autosomal recessive limb-girdle muscular dystrophy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0011969 MONDO:0005500 True ALG8-congenital disorder of glycosylation congenital disorder of glycosylation type I UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0011971 MONDO:0003947 True hyper-IgM syndrome type 5 hyper-IgM syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0011974 MONDO:0019200 True retinitis pigmentosa 7 retinitis pigmentosa UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0011985 MONDO:0003947 True hyper-IgM syndrome type 4 hyper-IgM syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0011987 MONDO:0015993 True cone-rod dystrophy 13 cone-rod dystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0011989 MONDO:0002428 True leishmaniasis protozoa infectious disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0011968 MONDO:0015152 True autosomal recessive limb-girdle muscular dystrophy type 2D autosomal recessive limb-girdle muscular dystrophy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0011968 MONDO:0016141 True autosomal recessive limb-girdle muscular dystrophy type 2D qualitative or quantitative defects of alpha-sarcoglycan UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011968 MONDO:0016333 True autosomal recessive limb-girdle muscular dystrophy type 2D familial dilated cardiomyopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0011969 MONDO:0005500 True ALG8-congenital disorder of glycosylation congenital disorder of glycosylation type I UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0011969 MONDO:0017740 True ALG8-congenital disorder of glycosylation disorder of protein N-glycosylation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011970 MONDO:0020072 True rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome childhood-onset epilepsy syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011971 MONDO:0003947 True hyper-IgM syndrome type 5 hyper-IgM syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0011972 MONDO:0005558 True ovarian hyperstimulation syndrome ovarian disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0011974 MONDO:0019200 True retinitis pigmentosa 7 retinitis pigmentosa UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0011975 MONDO:0016779 True paternal uniparental disomy of chromosome 14 multiple congenital anomalies due to 14q32.2 maternally expressed gene defect UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011976 MONDO:0020087 True lipodystrophy-intellectual disability-deafness syndrome hereditary lipodystrophy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011977 MONDO:0015161 True 8q22.1 microdeletion syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011977 MONDO:0016907 True 8q22.1 microdeletion syndrome partial deletion of the long arm of chromosome 8 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011985 MONDO:0003947 True hyper-IgM syndrome type 4 hyper-IgM syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0011987 MONDO:0015993 True cone-rod dystrophy 13 cone-rod dystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0011988 MONDO:0015978 True neutrophil immunodeficiency syndrome functional neutrophil defect UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011989 MONDO:0002428 True leishmaniasis protozoa infectious disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0011990 MONDO:0016027 True seizures, benign familial neonatal, 3 benign neonatal seizures UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0011991 MONDO:0019588 True autosomal recessive nonsyndromic hearing loss 38 hearing loss, autosomal recessive UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0011994 MONDO:0019587 True autosomal dominant nonsyndromic hearing loss 41 autosomal dominant nonsyndromic hearing loss UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0011996 MONDO:0004643 True chronic myelogenous leukemia, BCR-ABL1 positive myeloid leukemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0011997 MONDO:0019312 True Hermansky-Pudlak syndrome 2 Hermansky-Pudlak syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0011991 MONDO:0019588 True autosomal recessive nonsyndromic hearing loss 38 hearing loss, autosomal recessive UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0011992 MONDO:0015150 True hereditary spastic paraplegia 25 complex hereditary spastic paraplegia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011994 MONDO:0019587 True autosomal dominant nonsyndromic hearing loss 41 autosomal dominant nonsyndromic hearing loss UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0011996 MONDO:0004643 True chronic myelogenous leukemia, BCR-ABL1 positive myeloid leukemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0011997 MONDO:0015134 True Hermansky-Pudlak syndrome 2 constitutional neutropenia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011997 MONDO:0015541 True Hermansky-Pudlak syndrome 2 hereditary hemophagocytic lymphohistiocytosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0011997 MONDO:0019312 True Hermansky-Pudlak syndrome 2 Hermansky-Pudlak syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED MONDO:0011999 MONDO:0005349 True otosclerosis 3 otosclerosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0012000 MONDO:0003699 True specific phobia phobic disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0012002 MONDO:0019588 True autosomal recessive nonsyndromic hearing loss 40 hearing loss, autosomal recessive UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0012003 MONDO:0019588 True autosomal recessive nonsyndromic hearing loss 39 hearing loss, autosomal recessive UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0012000 MONDO:0003699 True specific phobia phobic disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0012002 MONDO:0019588 True autosomal recessive nonsyndromic hearing loss 40 hearing loss, autosomal recessive UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0012003 MONDO:0019588 True autosomal recessive nonsyndromic hearing loss 39 hearing loss, autosomal recessive UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED MONDO:0012004 MONDO:0004970 True parathyroid gland carcinoma adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0012004 MONDO:0021311 True parathyroid gland carcinoma malignant tumor of parathyroid gland UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012008 MONDO:0019287 True Lelis syndrome ectodermal dysplasia syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0012012 MONDO:0019548 True Charcot-Marie-Tooth disease dominant intermediate C autosomal dominant intermediate Charcot-Marie-Tooth disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012013 MONDO:0018096 True Weill-Marchesani syndrome 2, dominant Weill-Marchesani syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0012015 MONDO:0005712 True nystagmus 3, congenital, autosomal dominant congenital nystagmus UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0012016 MONDO:0003847 True capillary malformation-arteriovenous malformation syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012014 MONDO:0017058 True Charcot-Marie-Tooth disease recessive intermediate A autosomal recessive intermediate Charcot-Marie-Tooth disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012015 MONDO:0005712 True nystagmus 3, congenital, autosomal dominant congenital nystagmus UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0012016 MONDO:0016231 True capillary malformation-arteriovenous malformation syndrome capillary malformation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012019 MONDO:0016761 True spondyloepiphyseal dysplasia, Kimberley type spondyloepiphyseal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0012020 MONDO:0016972 True chromosome 22q11.2 microduplication syndrome partial duplication of the long arm of chromosome 22 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012021 MONDO:0001384 True myopia 17, autosomal dominant myopia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0012022 MONDO:0000358 True orofacial cleft 4 orofacial cleft UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0012023 MONDO:0019587 True autosomal dominant nonsyndromic hearing loss 49 autosomal dominant nonsyndromic hearing loss UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0012024 MONDO:0019200 True retinitis pigmentosa 26 retinitis pigmentosa UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0012030 MONDO:0019587 True autosomal dominant nonsyndromic hearing loss 43 autosomal dominant nonsyndromic hearing loss UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0012031 MONDO:0000009 True platelet-type bleeding disorder 10 inherited bleeding disorder, platelet-type UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0012034 MONDO:0015151 True autosomal dominant limb-girdle muscular dystrophy type 1F muscular dystrophy, limb-girdle, autosomal dominant UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0012037 MONDO:0019502 True intellectual disability, autosomal recessive 3 autosomal recessive non-syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0012040 MONDO:0005265 True inflammatory bowel disease 9 inflammatory bowel disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0012041 MONDO:0021055 True familial adenomatous polyposis 2 classic familial adenomatous polyposis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0012022 MONDO:0000358 True orofacial cleft 4 orofacial cleft UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0012023 MONDO:0019587 True autosomal dominant nonsyndromic hearing loss 49 autosomal dominant nonsyndromic hearing loss UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0012024 MONDO:0019200 True retinitis pigmentosa 26 retinitis pigmentosa UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0012030 MONDO:0019587 True autosomal dominant nonsyndromic hearing loss 43 autosomal dominant nonsyndromic hearing loss UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0012031 MONDO:0000009 True platelet-type bleeding disorder 10 inherited bleeding disorder, platelet-type UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0012032 MONDO:0015161 True Braddock syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012033 MONDO:0003847 True bradyopsia hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0012033 MONDO:0005283 True bradyopsia retinal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0012034 MONDO:0015151 True autosomal dominant limb-girdle muscular dystrophy type 1F muscular dystrophy, limb-girdle, autosomal dominant UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0012035 MONDO:0015338 True craniosynostosis-intracranial calcifications syndrome syndromic craniosynostosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012037 MONDO:0019502 True intellectual disability, autosomal recessive 3 autosomal recessive non-syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0012040 MONDO:0005265 True inflammatory bowel disease 9 inflammatory bowel disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0012041 MONDO:0006025 True familial adenomatous polyposis 2 autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0012041 MONDO:0016362 True familial adenomatous polyposis 2 attenuated familial adenomatous polyposis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012041 MONDO:0021055 True familial adenomatous polyposis 2 classic familial adenomatous polyposis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0012043 MONDO:0000764 True Reis-Bucklers corneal dystrophy epithelial-stromal TGFBI dystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0012043 MONDO:0020212 True Reis-Bucklers corneal dystrophy superficial corneal dystrophy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012045 MONDO:0001384 True myopia 5, autosomal dominant myopia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0012049 MONDO:0015375 True orofaciodigital syndrome VII orofaciodigital syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0012052 MONDO:0005500 True ALG1-congenital disorder of glycosylation congenital disorder of glycosylation type I UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0012053 MONDO:0016483 True aneurysm, intracranial berry, 2 intracranial berry aneurysm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0012056 MONDO:0018998 True Leber congenital amaurosis 9 Leber congenital amaurosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0012060 MONDO:0019588 True autosomal recessive nonsyndromic hearing loss 35 hearing loss, autosomal recessive UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0012048 MONDO:0002009 True endogenous depression major depressive disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0012049 MONDO:0015375 True orofaciodigital syndrome VII orofaciodigital syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0012052 MONDO:0005500 True ALG1-congenital disorder of glycosylation congenital disorder of glycosylation type I UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0012052 MONDO:0017740 True ALG1-congenital disorder of glycosylation disorder of protein N-glycosylation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012053 MONDO:0016483 True aneurysm, intracranial berry, 2 intracranial berry aneurysm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0012054 MONDO:0005090 True schizophrenia 12 schizophrenia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED +MONDO:0012055 MONDO:0018230 True Larsen-like osseous dysplasia-short stature syndrome skeletal dysplasia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012056 MONDO:0018998 True Leber congenital amaurosis 9 Leber congenital amaurosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0012060 MONDO:0019588 True autosomal recessive nonsyndromic hearing loss 35 hearing loss, autosomal recessive UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED MONDO:0012062 MONDO:0016333 True dilated cardiomyopathy 1O familial dilated cardiomyopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0012063 MONDO:0019054 True ulnar/fibula ray defect-brachydactyly syndrome congenital limb malformation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012064 MONDO:0015161 True choanal atresia-hearing loss-cardiac defects-craniofacial dysmorphism syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012066 MONDO:0018054 True atrial fibrillation, familial, 1 familial atrial fibrillation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0012069 MONDO:0015486 True keratoconus 3 keratoconus UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0012071 MONDO:0006536 True congenital generalized lipodystrophy type 1 congenital generalized lipodystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0012072 MONDO:0020088 True familial partial lipodystrophy, Kobberling type familial partial lipodystrophy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0012074 MONDO:0016584 True mandibuloacral dysplasia with type B lipodystrophy mandibuloacral dysplasia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0012071 MONDO:0006536 True congenital generalized lipodystrophy type 1 congenital generalized lipodystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0012072 MONDO:0020088 True familial partial lipodystrophy, Kobberling type familial partial lipodystrophy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0012073 MONDO:0019046 True ribose-5-P isomerase deficiency leukodystrophy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0012073 MONDO:0019231 True ribose-5-P isomerase deficiency inborn disorder of pentose phosphate metabolism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012074 MONDO:0016584 True mandibuloacral dysplasia with type B lipodystrophy mandibuloacral dysplasia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED MONDO:0012077 MONDO:0005144 True amyotrophic lateral sclerosis type 8 familial amyotrophic lateral sclerosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0012078 MONDO:0018772 True Joubert syndrome 3 Joubert syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0012078 MONDO:0018772 True Joubert syndrome 3 Joubert syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED MONDO:0012079 MONDO:0100440 True asperger syndrome, susceptibility to, 2 Asperger syndrome, susceptibility to UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0012080 MONDO:0015352 True neuronopathy, distal hereditary motor, type 2B distal hereditary motor neuropathy type 2 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0012081 MONDO:0016965 True 15q11q13 microduplication syndrome partial duplication of the long arm of chromosome 15 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012082 MONDO:0100440 True asperger syndrome, susceptibility to, 1 Asperger syndrome, susceptibility to UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0012083 MONDO:0019587 True autosomal dominant nonsyndromic hearing loss 28 autosomal dominant nonsyndromic hearing loss UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0012085 MONDO:0016575 True primary ciliary dyskinesia 3 primary ciliary dyskinesia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0012086 MONDO:0019587 True autosomal dominant nonsyndromic hearing loss 31 autosomal dominant nonsyndromic hearing loss UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0012087 MONDO:0016575 True primary ciliary dyskinesia 4 primary ciliary dyskinesia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0012088 MONDO:0016575 True primary ciliary dyskinesia 5 primary ciliary dyskinesia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0012089 MONDO:0043905 True ichthyosis prematurity syndrome pneumonitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012090 MONDO:0019587 True autosomal dominant nonsyndromic hearing loss 47 autosomal dominant nonsyndromic hearing loss UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0012091 MONDO:0019588 True autosomal recessive nonsyndromic hearing loss 32 hearing loss, autosomal recessive UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0012092 MONDO:0015364 True hereditary sensory and autonomic neuropathy type 5 hereditary sensory and autonomic neuropathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0012104 MONDO:0027767 True acquired partial lipodystrophy partial lipodystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012105 MONDO:0002462 True granulomatosis with polyangiitis glomerulonephritis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0012106 MONDO:0016660 True microcephaly 5, primary, autosomal recessive autosomal recessive primary microcephaly UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0012111 MONDO:0024573 True hypertrophic cardiomyopathy 8 familial hypertrophic cardiomyopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0012112 MONDO:0024573 True hypertrophic cardiomyopathy 10 familial hypertrophic cardiomyopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0012117 MONDO:0005500 True ALG9-congenital disorder of glycosylation congenital disorder of glycosylation type I UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0012083 MONDO:0019587 True autosomal dominant nonsyndromic hearing loss 28 autosomal dominant nonsyndromic hearing loss UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0012084 MONDO:0017759 True aromatic L-amino acid decarboxylase deficiency disorder of catecholamine synthesis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012085 MONDO:0016575 True primary ciliary dyskinesia 3 primary ciliary dyskinesia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0012086 MONDO:0019587 True autosomal dominant nonsyndromic hearing loss 31 autosomal dominant nonsyndromic hearing loss UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0012087 MONDO:0016575 True primary ciliary dyskinesia 4 primary ciliary dyskinesia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0012088 MONDO:0016575 True primary ciliary dyskinesia 5 primary ciliary dyskinesia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0012090 MONDO:0019587 True autosomal dominant nonsyndromic hearing loss 47 autosomal dominant nonsyndromic hearing loss UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0012091 MONDO:0019588 True autosomal recessive nonsyndromic hearing loss 32 hearing loss, autosomal recessive UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0012092 MONDO:0015364 True hereditary sensory and autonomic neuropathy type 5 hereditary sensory and autonomic neuropathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0012095 MONDO:0015159 True intellectual disability-brachydactyly-Pierre Robin syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012095 MONDO:0018234 True intellectual disability-brachydactyly-Pierre Robin syndrome dysostosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012095 MONDO:0019054 True intellectual disability-brachydactyly-Pierre Robin syndrome congenital limb malformation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012096 MONDO:0018993 True Charcot-Marie-Tooth disease axonal type 2L Charcot-Marie-Tooth disease type 2 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0012098 MONDO:0019792 True spinocerebellar ataxia type 20 autosomal dominant cerebellar ataxia type I UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012099 MONDO:0019236 True AICA-ribosiduria inborn disorder of purine metabolism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012103 MONDO:0019792 True spinocerebellar ataxia type 25 autosomal dominant cerebellar ataxia type I UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012104 MONDO:0020089 True acquired partial lipodystrophy acquired lipodystrophy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012105 MONDO:0005046 True granulomatosis with polyangiitis immune system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0012105 MONDO:0015492 True granulomatosis with polyangiitis anti-neutrophil cytoplasmic antibody-associated vasculitis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012106 MONDO:0016660 True microcephaly 5, primary, autosomal recessive autosomal recessive primary microcephaly UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0012110 MONDO:0015892 True growth delay due to insulin-like growth factor type 1 deficiency growth hormone insensitivity syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012111 MONDO:0024573 True hypertrophic cardiomyopathy 8 familial hypertrophic cardiomyopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0012112 MONDO:0024573 True hypertrophic cardiomyopathy 10 familial hypertrophic cardiomyopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0012116 MONDO:0019792 True spinocerebellar ataxia type 8 autosomal dominant cerebellar ataxia type I UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012117 MONDO:0005500 True ALG9-congenital disorder of glycosylation congenital disorder of glycosylation type I UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0012117 MONDO:0017740 True ALG9-congenital disorder of glycosylation disorder of protein N-glycosylation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012118 MONDO:0005501 True COG7-congenital disorder of glycosylation congenital disorder of glycosylation type II UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0012118 MONDO:0015327 True COG7-congenital disorder of glycosylation developmental anomaly of metabolic origin UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012118 MONDO:0017750 True COG7-congenital disorder of glycosylation defect in conserved oligomeric Golgi complex UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012119 MONDO:0100440 True asperger syndrome, susceptibility to, 3 Asperger syndrome, susceptibility to UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0012120 MONDO:0019169 True pyruvate dehydrogenase phosphatase deficiency pyruvate dehydrogenase deficiency UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0012120 MONDO:0019169 True pyruvate dehydrogenase phosphatase deficiency pyruvate dehydrogenase deficiency UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0012121 MONDO:0005349 True otosclerosis 5 otosclerosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0012122 MONDO:0016820 True moyamoya disease 3 Moyamoya disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0012123 MONDO:0005500 True congenital disorder of glycosylation type 1E congenital disorder of glycosylation type I UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0012127 MONDO:0015152 True autosomal recessive limb-girdle muscular dystrophy type 2J autosomal recessive limb-girdle muscular dystrophy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0012123 MONDO:0005500 True congenital disorder of glycosylation type 1E congenital disorder of glycosylation type I UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0012123 MONDO:0017749 True congenital disorder of glycosylation type 1E disorder of multiple glycosylation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012124 MONDO:0020040 True sudden infant death-dysgenesis of the testes syndrome 46,XY disorder of sex development UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012125 MONDO:0017226 True hypomyelinating leukodystrophy 2 Pelizaeus-Merzbacher-like disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012126 MONDO:0018379 True familial avascular necrosis of femoral head primary avascular necrosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012126 MONDO:0018383 True familial avascular necrosis of femoral head osteonecrosis of genetic origin UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012127 MONDO:0015152 True autosomal recessive limb-girdle muscular dystrophy type 2J autosomal recessive limb-girdle muscular dystrophy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0012130 MONDO:0016108 True myofibrillar myopathy 2 autosomal dominant distal myopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012135 MONDO:0100170 True restless legs syndrome, susceptibility to, 2 restless legs syndrome, susceptibility to UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0012138 MONDO:0000172 True muscular dystrophy-dystroglycanopathy type B6 muscular dystrophy-dystroglycanopathy, type B UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0012136 MONDO:0015515 True carnitine palmitoyl transferase II deficiency, neonatal form carnitine palmitoyltransferase II deficiency UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012137 MONDO:0016432 True Carney complex - trismus - pseudocamptodactyly syndrome heart-hand syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012138 MONDO:0000172 True muscular dystrophy-dystroglycanopathy type B6 muscular dystrophy-dystroglycanopathy, type B UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0012139 MONDO:0031166 True macular dystrophy, retinal, 3 macular dystrophy, retinal UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0012143 MONDO:0020102 True hereditary cryohydrocytosis with reduced stomatin hereditary stomatocytosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012145 MONDO:0005150 True macular degeneration, age-related, 3 age-related macular degeneration UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0012146 MONDO:0015541 True familial hemophagocytic lymphohistiocytosis 3 hereditary hemophagocytic lymphohistiocytosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0012154 MONDO:0001384 True myopia 6 myopia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0012155 MONDO:0002232 True choanal atresia nasal cavity disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0012158 MONDO:0015486 True keratoconus 2 keratoconus UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0012162 MONDO:0020381 True patterned macular dystrophy 2 patterned macular dystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0012160 MONDO:0016763 True spondylometaphyseal dysplasia-cone-rod dystrophy syndrome spondylometaphyseal dysplasia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED +MONDO:0012162 MONDO:0020381 True patterned macular dystrophy 2 patterned macular dystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0012163 MONDO:0031520 True immunodeficiency 104 familial severe combined immunodeficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0012164 MONDO:0020040 True Meacham syndrome 46,XY disorder of sex development UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012165 MONDO:0015161 True BNAR syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012165 MONDO:0018751 True BNAR syndrome hereditary otorhinolaryngologic disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012166 MONDO:0100309 True autosomal dominant sensory ataxia 1 hereditary ataxia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0012167 MONDO:0018054 True atrial fibrillation, familial, 2 familial atrial fibrillation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0012169 MONDO:0019852 True premature ovarian failure 3 inherited primary ovarian failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0012170 MONDO:0019588 True autosomal recessive nonsyndromic hearing loss 36 hearing loss, autosomal recessive UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0012172 MONDO:0002525 True mitochondrial trifunctional protein deficiency inherited lipid metabolism disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0012175 MONDO:0005129 True cataract 28 cataract UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0012170 MONDO:0019588 True autosomal recessive nonsyndromic hearing loss 36 hearing loss, autosomal recessive UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0012172 MONDO:0002525 True mitochondrial trifunctional protein deficiency inherited lipid metabolism disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0012172 MONDO:0009637 True mitochondrial trifunctional protein deficiency inborn mitochondrial myopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0012173 MONDO:0017713 True long chain 3-hydroxyacyl-CoA dehydrogenase deficiency disorder of fatty acid oxidation and ketogenesis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012173 MONDO:0020127 True long chain 3-hydroxyacyl-CoA dehydrogenase deficiency hereditary peripheral neuropathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012175 MONDO:0005129 True cataract 28 cataract UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED MONDO:0012180 MONDO:0016342 True arrhythmogenic right ventricular dysplasia 9 familial isolated arrhythmogenic right ventricular dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0012183 MONDO:0024462 True melanoma, cutaneous malignant, susceptibility to, 3 susceptibility to familial cutaneous melanoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0012185 MONDO:0016763 True spondylometaphyseal dysplasia, A4 type spondylometaphyseal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0012186 MONDO:0019391 True Fanconi anemia complementation group I Fanconi anemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0012187 MONDO:0019391 True Fanconi anemia complementation group J Fanconi anemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0012190 MONDO:0017610 True epidermolysis bullosa simplex 7, with nephropathy and deafness epidermolysis bullosa simplex UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0012191 MONDO:0000732 True hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 combined oxidative phosphorylation deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0012193 MONDO:0015151 True autosomal dominant limb-girdle muscular dystrophy type 1G muscular dystrophy, limb-girdle, autosomal dominant UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0012194 MONDO:0016483 True aneurysm, intracranial berry, 3 intracranial berry aneurysm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0012195 MONDO:0019942 True arthrogryposis-severe scoliosis syndrome distal arthrogryposis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0012184 MONDO:0006025 True Pierson syndrome autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0012185 MONDO:0016763 True spondylometaphyseal dysplasia, A4 type spondylometaphyseal dysplasia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0012186 MONDO:0019391 True Fanconi anemia complementation group I Fanconi anemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0012187 MONDO:0019391 True Fanconi anemia complementation group J Fanconi anemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0012190 MONDO:0017610 True epidermolysis bullosa simplex 7, with nephropathy and deafness epidermolysis bullosa simplex UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0012191 MONDO:0000732 True hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 combined oxidative phosphorylation deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0012192 MONDO:0016391 True permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome neonatal diabetes mellitus UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012192 MONDO:0020022 True permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome central nervous system malformation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012193 MONDO:0015151 True autosomal dominant limb-girdle muscular dystrophy type 1G muscular dystrophy, limb-girdle, autosomal dominant UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0012194 MONDO:0016483 True aneurysm, intracranial berry, 3 intracranial berry aneurysm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0012195 MONDO:0019942 True arthrogryposis-severe scoliosis syndrome distal arthrogryposis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0012196 MONDO:0019587 True autosomal dominant auditory neuropathy 1 autosomal dominant nonsyndromic hearing loss UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED MONDO:0012196 MONDO:0021944 True autosomal dominant auditory neuropathy 1 auditory neuropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0012199 MONDO:0020364 True posterior polymorphous corneal dystrophy 2 posterior polymorphous corneal dystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0012200 MONDO:0020364 True posterior polymorphous corneal dystrophy 3 posterior polymorphous corneal dystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0012197 MONDO:0015610 True idiopathic aplastic anemia acquired aplastic anemia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012198 MONDO:0000426 True PCWH syndrome autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0012198 MONDO:0002254 True PCWH syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0012199 MONDO:0020364 True posterior polymorphous corneal dystrophy 2 posterior polymorphous corneal dystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0012200 MONDO:0020364 True posterior polymorphous corneal dystrophy 3 posterior polymorphous corneal dystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0012203 MONDO:0003847 True familial hyperthyroidism due to mutations in TSH receptor hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0012203 MONDO:0004425 True familial hyperthyroidism due to mutations in TSH receptor hyperthyroidism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0012204 MONDO:0020102 True familial pseudohyperkalemia hereditary stomatocytosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012205 MONDO:0000211 True autosomal dominant striatal neurodegeneration type 1 striatal degeneration, autosomal dominant UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0012206 MONDO:0022800 True Czech dysplasia, metatarsal type type 2 collagenopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012208 MONDO:0015947 True congenital reticular ichthyosiform erythroderma inherited ichthyosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012210 MONDO:0100246 True migraine with aura, susceptibility to, 7 migraine with or without aura, susceptibility to UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0012211 MONDO:0005500 True MPDU1-congenital disorder of glycosylation congenital disorder of glycosylation type I UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0012212 MONDO:0018954 True Loeys-Dietz syndrome 1 Loeys-Dietz syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0012211 MONDO:0005500 True MPDU1-congenital disorder of glycosylation congenital disorder of glycosylation type I UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0012211 MONDO:0017749 True MPDU1-congenital disorder of glycosylation disorder of multiple glycosylation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012212 MONDO:0018954 True Loeys-Dietz syndrome 1 Loeys-Dietz syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0012213 MONDO:0015150 True hereditary spastic paraplegia 26 complex hereditary spastic paraplegia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012214 MONDO:0008733 True glucocorticoid deficiency 3 familial glucocorticoid deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0012215 MONDO:0018943 True myofibrillar myopathy 3 myofibrillar myopathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0012215 MONDO:0016108 True myofibrillar myopathy 3 autosomal dominant distal myopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012215 MONDO:0018943 True myofibrillar myopathy 3 myofibrillar myopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED MONDO:0012216 MONDO:0044203 True foveal hypoplasia - optic nerve decussation defect - anterior segment dysgenesis syndrome foveal hypoplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0012220 MONDO:0018306 True Griscelli syndrome type 3 Griscelli syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0012224 MONDO:0000032 True febrile seizures, familial, 6 febrile seizures, familial UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0012219 MONDO:0019667 True spondyloepiphyseal dysplasia tarda, autosomal recessive, Leroy-Spranger type spondyloepiphyseal dysplasia tarda UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0012220 MONDO:0018306 True Griscelli syndrome type 3 Griscelli syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0012221 MONDO:0017779 True alpha-N-acetylgalactosaminidase deficiency type 1 alpha-N-acetylgalactosaminidase deficiency UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0012222 MONDO:0017779 True alpha-N-acetylgalactosaminidase deficiency type 2 alpha-N-acetylgalactosaminidase deficiency UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0012224 MONDO:0000032 True febrile seizures, familial, 6 febrile seizures, familial UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED MONDO:0012225 MONDO:0017842 True Senior-Loken syndrome 5 Senior-Loken syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0012226 MONDO:0000032 True febrile seizures, familial, 5 febrile seizures, familial UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0012226 MONDO:0000032 True febrile seizures, familial, 5 febrile seizures, familial UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED MONDO:0012227 MONDO:0001384 True myopia 7 myopia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0012228 MONDO:0001384 True myopia 8 myopia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0012229 MONDO:0001384 True myopia 9 myopia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0012230 MONDO:0001384 True myopia 10 myopia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0012231 MONDO:0018993 True Charcot-Marie-Tooth disease type 2A2 Charcot-Marie-Tooth disease type 2 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0012232 MONDO:0000723 True stuttering, familial persistent, 2 stutter disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0012235 MONDO:0015244 True autosomal recessive spinocerebellar ataxia 7 autosomal recessive cerebellar ataxia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0012235 MONDO:0015244 True autosomal recessive spinocerebellar ataxia 7 autosomal recessive cerebellar ataxia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED MONDO:0012236 MONDO:0015486 True keratoconus 4 keratoconus UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0012245 MONDO:0100062 True developmental and epileptic encephalopathy, 3 developmental and epileptic encephalopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0012245 MONDO:0100062 True developmental and epileptic encephalopathy, 3 developmental and epileptic encephalopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0012246 MONDO:0019793 True spinocerebellar ataxia type 26 autosomal dominant cerebellar ataxia type III UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012247 MONDO:0019792 True spinocerebellar ataxia type 27 autosomal dominant cerebellar ataxia type I UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012248 MONDO:0000173 True autosomal recessive limb-girdle muscular dystrophy type 2K muscular dystrophy-dystroglycanopathy, type C UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0012248 MONDO:0015152 True autosomal recessive limb-girdle muscular dystrophy type 2K autosomal recessive limb-girdle muscular dystrophy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0012249 MONDO:0018630 True Lynch syndrome 2 hereditary nonpolyposis colon cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0012252 MONDO:0016473 True rhabdoid tumor predisposition syndrome 1 familial rhabdoid tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0012258 MONDO:0017610 True epidermolysis bullosa simplex 2E, with migratory circinate erythema epidermolysis bullosa simplex UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0012248 MONDO:0015152 True autosomal recessive limb-girdle muscular dystrophy type 2K autosomal recessive limb-girdle muscular dystrophy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0012248 MONDO:0016184 True autosomal recessive limb-girdle muscular dystrophy type 2K qualitative or quantitative defects of protein O-mannosyltransferase 1 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012249 MONDO:0000426 True Lynch syndrome 2 autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0012249 MONDO:0018630 True Lynch syndrome 2 hereditary nonpolyposis colon cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0012250 MONDO:0018995 True Charcot-Marie-Tooth disease type 4H Charcot-Marie-Tooth disease type 4 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0012251 MONDO:0002254 True MEDNIK syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0012251 MONDO:0017762 True MEDNIK syndrome disorder of copper metabolism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012251 MONDO:0019270 True MEDNIK syndrome erythrokeratoderma UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012252 MONDO:0016473 True rhabdoid tumor predisposition syndrome 1 familial rhabdoid tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0012253 MONDO:0016648 True multiple epiphyseal dysplasia, with severe proximal femoral dysplasia multiple epiphyseal dysplasia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0012254 MONDO:0016648 True multiple epiphyseal dysplasia, with miniepiphyses multiple epiphyseal dysplasia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0012256 MONDO:0015149 True hereditary spastic paraplegia 28 pure hereditary spastic paraplegia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012258 MONDO:0017610 True epidermolysis bullosa simplex 2E, with migratory circinate erythema epidermolysis bullosa simplex UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0012261 MONDO:0020836 True autism, susceptibility to, 6 autism, susceptiblity to UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0012262 MONDO:0007614 True fibrosis of extraocular muscles, congenital, 3c congenital fibrosis of extraocular muscles UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0012262 MONDO:0007614 True fibrosis of extraocular muscles, congenital, 3c congenital fibrosis of extraocular muscles UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED MONDO:0012264 MONDO:0005081 True preeclampsia/eclampsia 2 preeclampsia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0012265 MONDO:0005081 True preeclampsia/eclampsia 3 preeclampsia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0012266 MONDO:0005081 True preeclampsia/eclampsia 4 preeclampsia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0012267 MONDO:0016296 True holoprosencephaly 8 holoprosencephaly UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0012268 MONDO:0003780 True AIDS T-cell immunodeficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012270 MONDO:0007614 True Tukel syndrome congenital fibrosis of extraocular muscles UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0012273 MONDO:0019588 True autosomal recessive nonsyndromic hearing loss 48 hearing loss, autosomal recessive UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0012274 MONDO:0019696 True acromesomelic dysplasia 3 acromesomelic dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0012275 MONDO:0002254 True fetal valproate syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0012277 MONDO:0018943 True myofibrillar myopathy 4 myofibrillar myopathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0012267 MONDO:0016296 True holoprosencephaly 8 holoprosencephaly UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0012268 MONDO:0005109 True AIDS HIV infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0012269 MONDO:0016902 True chromosome 3q29 microdeletion syndrome partial deletion of the long arm of chromosome 3 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012270 MONDO:0007614 True Tukel syndrome congenital fibrosis of extraocular muscles UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0012271 MONDO:0019530 True mesoaxial synostotic syndactyly with phalangeal reduction non-syndromic syndactyly UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012273 MONDO:0019588 True autosomal recessive nonsyndromic hearing loss 48 hearing loss, autosomal recessive UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0012274 MONDO:0019696 True acromesomelic dysplasia 3 acromesomelic dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0012275 MONDO:0002254 True fetal valproate syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0012275 MONDO:0016677 True fetal valproate syndrome toxic or drug-related embryofetopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012276 MONDO:0017704 True generalized epilepsy-paroxysmal dyskinesia syndrome familial partial epilepsy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012277 MONDO:0016108 True myofibrillar myopathy 4 autosomal dominant distal myopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012277 MONDO:0016190 True myofibrillar myopathy 4 qualitative or quantitative defects of protein ZASP UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012277 MONDO:0018943 True myofibrillar myopathy 4 myofibrillar myopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0012280 MONDO:0002254 True Goldberg-Shprintzen megacolon syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0012280 MONDO:0003847 True Goldberg-Shprintzen megacolon syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0012280 MONDO:0015159 True Goldberg-Shprintzen megacolon syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012285 MONDO:0018901 True left ventricular noncompaction 2 left ventricular noncompaction UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0012289 MONDO:0018943 True myofibrillar myopathy 5 myofibrillar myopathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0012293 MONDO:0019588 True autosomal recessive nonsyndromic hearing loss 23 hearing loss, autosomal recessive UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0012289 MONDO:0016189 True myofibrillar myopathy 5 qualitative or quantitative defects of filamin C UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012289 MONDO:0018943 True myofibrillar myopathy 5 myofibrillar myopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0012290 MONDO:0002254 True CEDNIK syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0012290 MONDO:0017666 True CEDNIK syndrome diffuse palmoplantar keratoderma UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012293 MONDO:0019588 True autosomal recessive nonsyndromic hearing loss 23 hearing loss, autosomal recessive UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0012297 MONDO:0015150 True SPOAN syndrome complex hereditary spastic paraplegia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012299 MONDO:0005514 True nanophthalmos 2 nanophthalmia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0012301 MONDO:0018158 True mitochondrial DNA depletion syndrome, myopathic form mitochondrial DNA depletion syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0012301 MONDO:0018158 True mitochondrial DNA depletion syndrome, myopathic form mitochondrial DNA depletion syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0012301 MONDO:0019238 True mitochondrial DNA depletion syndrome, myopathic form inborn disorder of pyrimidine metabolism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0012302 MONDO:0018953 True parietal foramina 3 parietal foramina UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0012303 MONDO:0100246 True migraine with or without aura, susceptibility to, 8 migraine with or without aura, susceptibility to UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0012304 MONDO:0015643 True photoparoxysmal response 2 photosensitive epilepsy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0012305 MONDO:0015643 True photoparoxysmal response 3 photosensitive epilepsy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0012306 MONDO:0016340 True cardiomyopathy, familial restrictive, 2 familial restrictive cardiomyopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0012308 MONDO:0018772 True Joubert syndrome with renal defect Joubert syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0012307 MONDO:0015704 True familial scaphocephaly syndrome, McGillivray type familial scaphocephaly syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012308 MONDO:0018772 True Joubert syndrome with renal defect Joubert syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED MONDO:0012309 MONDO:0018953 True parietal foramina 2 parietal foramina UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0012312 MONDO:0000453 True short QT syndrome type 1 short QT syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0012313 MONDO:0000453 True short QT syndrome type 2 short QT syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0012314 MONDO:0000453 True short QT syndrome type 3 short QT syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0012316 MONDO:0019751 True Majeed syndrome autoinflammatory syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012320 MONDO:0000700 True migraine, familial hemiplegic, 3 familial hemiplegic migraine UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0012326 MONDO:0019588 True autosomal recessive nonsyndromic hearing loss 42 hearing loss, autosomal recessive UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0012327 MONDO:0019588 True autosomal recessive nonsyndromic hearing loss 46 hearing loss, autosomal recessive UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0012315 MONDO:0016909 True distal 10q deletion syndrome partial monosomy of the long arm of chromosome 10 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012316 MONDO:0005570 True Majeed syndrome hematologic disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012316 MONDO:0019751 True Majeed syndrome autoinflammatory syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012320 MONDO:0000700 True migraine, familial hemiplegic, 3 familial hemiplegic migraine UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0012324 MONDO:0015161 True Frias syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012324 MONDO:0016912 True Frias syndrome partial deletion of the long arm of chromosome 14 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012326 MONDO:0019588 True autosomal recessive nonsyndromic hearing loss 42 hearing loss, autosomal recessive UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0012327 MONDO:0019588 True autosomal recessive nonsyndromic hearing loss 46 hearing loss, autosomal recessive UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0012330 MONDO:0019707 True talo-patello-scaphoid osteolysis primary osteolysis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012331 MONDO:0100246 True migraine with aura, susceptibility to, 9 migraine with or without aura, susceptibility to UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0012333 MONDO:0019588 True autosomal recessive nonsyndromic hearing loss 53 hearing loss, autosomal recessive UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0012333 MONDO:0019588 True autosomal recessive nonsyndromic hearing loss 53 hearing loss, autosomal recessive UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0012334 MONDO:0015087 True hereditary spastic paraplegia 29 autosomal dominant complex spastic paraplegia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012335 MONDO:0019182 True obesity due to pro-opiomelanocortin deficiency inherited obesity UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0012342 MONDO:0003847 True 7q11.23 microduplication syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0012342 MONDO:0016958 True 7q11.23 microduplication syndrome partial duplication of the long arm of chromosome 7 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012343 MONDO:0007031 True aortic aneurysm, familial abdominal, 2 familial abdominal aortic aneurysm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0012345 MONDO:0019347 True acral peeling skin syndrome peeling skin syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0012346 MONDO:0018214 True generalized epilepsy with febrile seizures plus, type 4 generalized epilepsy with febrile seizures plus UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0012353 MONDO:0001115 True erythrocytosis, familial, 3 familial polycythemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0012354 MONDO:0000009 True platelet-type bleeding disorder 8 inherited bleeding disorder, platelet-type UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0012355 MONDO:0019588 True autosomal recessive nonsyndromic hearing loss 28 hearing loss, autosomal recessive UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0012345 MONDO:0019347 True acral peeling skin syndrome peeling skin syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0012346 MONDO:0018214 True generalized epilepsy with febrile seizures plus, type 4 generalized epilepsy with febrile seizures plus UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0012348 MONDO:0018911 True maturity-onset diabetes of the young type 8 maturity-onset diabetes of the young UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED +MONDO:0012351 MONDO:0008512 True zygodactyly type 1 syndactyly type 1 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS +MONDO:0012353 MONDO:0001115 True erythrocytosis, familial, 3 familial polycythemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0012354 MONDO:0000009 True platelet-type bleeding disorder 8 inherited bleeding disorder, platelet-type UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0012354 MONDO:0021181 True platelet-type bleeding disorder 8 inherited blood coagulation disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012355 MONDO:0019588 True autosomal recessive nonsyndromic hearing loss 28 hearing loss, autosomal recessive UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED MONDO:0012360 MONDO:0000045 True congenital nongoitrous hypothryoidism 3 hypothyroidism, congenital, nongoitrous UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0012362 MONDO:0016333 True dilated cardiomyopathy 1P familial dilated cardiomyopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0012363 MONDO:0019200 True retinitis pigmentosa 32 retinitis pigmentosa UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0012363 MONDO:0019200 True retinitis pigmentosa 32 retinitis pigmentosa UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED MONDO:0012364 MONDO:0016333 True dilated cardiomyopathy 1Q familial dilated cardiomyopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0012365 MONDO:0700225 True gallbladder disease 2 hereditary gallbladder disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0012366 MONDO:0700225 True gallbladder disease 3 hereditary gallbladder disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0012367 MONDO:0019200 True retinitis pigmentosa 31 retinitis pigmentosa UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0012370 MONDO:0019588 True autosomal recessive nonsyndromic hearing loss 51 hearing loss, autosomal recessive UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0012371 MONDO:0018997 True Noonan syndrome 3 Noonan syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0012375 MONDO:0019588 True autosomal recessive nonsyndromic hearing loss 47 hearing loss, autosomal recessive UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0012376 MONDO:0019588 True autosomal recessive nonsyndromic hearing loss 55 hearing loss, autosomal recessive UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0012367 MONDO:0019200 True retinitis pigmentosa 31 retinitis pigmentosa UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0012368 MONDO:0017686 True aminoacylase 1 deficiency inborn aminoacylase deficiency UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012370 MONDO:0019588 True autosomal recessive nonsyndromic hearing loss 51 hearing loss, autosomal recessive UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0012371 MONDO:0018997 True Noonan syndrome 3 Noonan syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0012375 MONDO:0019588 True autosomal recessive nonsyndromic hearing loss 47 hearing loss, autosomal recessive UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0012376 MONDO:0019588 True autosomal recessive nonsyndromic hearing loss 55 hearing loss, autosomal recessive UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED MONDO:0012377 MONDO:0100440 True asperger syndrome, susceptibility to, 4 Asperger syndrome, susceptibility to UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0012378 MONDO:0016070 True fibromatosis, gingival, 3 hereditary gingival fibromatosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0012380 MONDO:0019587 True autosomal dominant nonsyndromic hearing loss 53 autosomal dominant nonsyndromic hearing loss UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0012383 MONDO:0021094 True primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency immunodeficiency disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0012380 MONDO:0019587 True autosomal dominant nonsyndromic hearing loss 53 autosomal dominant nonsyndromic hearing loss UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0012381 MONDO:0017182 True hyperinsulinism due to INSR deficiency familial hyperinsulinism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012382 MONDO:0015624 True hyperinsulinemic hypoglycemia, familial, 4 diazoxide-sensitive diffuse hyperinsulinism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012383 MONDO:0021094 True primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency immunodeficiency disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0012384 MONDO:0031240 True panic disorder 3 familial panic disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0012387 MONDO:0019852 True osteosclerosis-ichthyosis-premature ovarian failure syndrome inherited primary ovarian failure UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0012388 MONDO:0001384 True myopia 11, autosomal dominant myopia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0012389 MONDO:0001384 True myopia 12, autosomal dominant myopia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0012394 MONDO:0017923 True multiple synostoses syndrome 2 multiple synostoses syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0012395 MONDO:0005129 True cataract 18 cataract UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0012399 MONDO:0000904 True complex cortical dysplasia with other brain malformations 7 complex cortical dysplasia with other brain malformations UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0012400 MONDO:0002254 True cortical dysplasia-focal epilepsy syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0012405 MONDO:0011023 True polyposis syndrome, hereditary mixed, 2 hereditary mixed polyposis syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0012391 MONDO:0020074 True neuronal ceroid lipofuscinosis 8 northern epilepsy variant progressive myoclonus epilepsy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS +MONDO:0012392 MONDO:0019215 True 2-methylbutyryl-CoA dehydrogenase deficiency classic organic aciduria UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012393 MONDO:0017352 True congenital brain dysgenesis due to glutamine synthetase deficiency disorder of glutamine metabolism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012394 MONDO:0017923 True multiple synostoses syndrome 2 multiple synostoses syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0012395 MONDO:0005129 True cataract 18 cataract UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0012396 MONDO:0015624 True exercise-induced hyperinsulinism diazoxide-sensitive diffuse hyperinsulinism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012396 MONDO:0017706 True exercise-induced hyperinsulinism disorder of carbohydrate transmembrane transport and absorption UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012399 MONDO:0000904 True complex cortical dysplasia with other brain malformations 7 complex cortical dysplasia with other brain malformations UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0012399 MONDO:0015159 True complex cortical dysplasia with other brain malformations 7 multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012400 MONDO:0003847 True cortical dysplasia-focal epilepsy syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0012401 MONDO:0020213 True congenital stromal corneal dystrophy stromal corneal dystrophy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0012405 MONDO:0011023 True polyposis syndrome, hereditary mixed, 2 hereditary mixed polyposis syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0012407 MONDO:0019237 True pyridoxal phosphate-responsive seizures inborn disorder of pyridoxine metabolism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012408 MONDO:0000170 True microphthalmia, isolated, with coloboma 3 microphthalmia, isolated, with coloboma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0012409 MONDO:0000062 True isolated microphthalmia 2 isolated microphthalmia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0012409 MONDO:0000062 True isolated microphthalmia 2 isolated microphthalmia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0012410 MONDO:0016108 True Finnish upper limb-onset distal myopathy autosomal dominant distal myopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012411 MONDO:0000128 True giant axonal neuropathy 2 giant axonal neuropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0012413 MONDO:0016073 True syndromic microphthalmia type 5 syndromic microphthalmia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0012418 MONDO:0019588 True autosomal recessive nonsyndromic hearing loss 62 hearing loss, autosomal recessive UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0012419 MONDO:0005150 True age related macular degeneration 7 age-related macular degeneration UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0012420 MONDO:0019588 True autosomal recessive nonsyndromic hearing loss 49 hearing loss, autosomal recessive UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0012421 MONDO:0019588 True autosomal recessive nonsyndromic hearing loss 44 hearing loss, autosomal recessive UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0012411 MONDO:0018993 True giant axonal neuropathy 2 Charcot-Marie-Tooth disease type 2 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0012413 MONDO:0016073 True syndromic microphthalmia type 5 syndromic microphthalmia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0012417 MONDO:0016432 True heart-hand syndrome, Slovenian type heart-hand syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012418 MONDO:0019588 True autosomal recessive nonsyndromic hearing loss 62 hearing loss, autosomal recessive UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0012419 MONDO:0005150 True age related macular degeneration 7 age-related macular degeneration UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0012420 MONDO:0019588 True autosomal recessive nonsyndromic hearing loss 49 hearing loss, autosomal recessive UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0012421 MONDO:0019588 True autosomal recessive nonsyndromic hearing loss 44 hearing loss, autosomal recessive UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED MONDO:0012425 MONDO:0005321 True corneal dystrophy, fuchs endothelial, 2 Fuchs' endothelial dystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0012427 MONDO:0018954 True Loeys-Dietz syndrome 2 Loeys-Dietz syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0012427 MONDO:0018954 True Loeys-Dietz syndrome 2 Loeys-Dietz syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED MONDO:0012429 MONDO:0018866 True Aicardi-Goutieres syndrome 2 Aicardi-Goutieres syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0012430 MONDO:0009133 True cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 2 cerebellar ataxia, intellectual disability, and dysequilibrium UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0012432 MONDO:0018772 True Joubert syndrome 5 Joubert syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0012431 MONDO:0005711 True diaphragmatic hernia 3 congenital diaphragmatic hernia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0012432 MONDO:0018772 True Joubert syndrome 5 Joubert syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED MONDO:0012433 MONDO:0017842 True Senior-Loken syndrome 6 Senior-Loken syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0012434 MONDO:0016342 True arrhythmogenic right ventricular dysplasia 10 familial isolated arrhythmogenic right ventricular dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0012435 MONDO:0017359 True 3-methylglutaconic aciduria type 5 3-methylglutaconic aciduria UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0012438 MONDO:0020135 True pontocerebellar hypoplasia type 5 pontocerebellar hypoplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0012439 MONDO:0007318 True Alagille syndrome due to a NOTCH2 point mutation Alagille syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0012435 MONDO:0017359 True 3-methylglutaconic aciduria type 5 3-methylglutaconic aciduria UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0012436 MONDO:0016391 True neonatal diabetes mellitus with congenital hypothyroidism neonatal diabetes mellitus UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0012438 MONDO:0020135 True pontocerebellar hypoplasia type 5 pontocerebellar hypoplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0012439 MONDO:0007318 True Alagille syndrome due to a NOTCH2 point mutation Alagille syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0012440 MONDO:0100246 True migraine with or without aura, susceptibility to, 10 migraine with or without aura, susceptibility to UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0012441 MONDO:0100246 True migraine with or without aura, susceptibility to, 11 migraine with or without aura, susceptibility to UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0012442 MONDO:0019588 True autosomal recessive nonsyndromic hearing loss 66 hearing loss, autosomal recessive UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0012443 MONDO:0016483 True aneurysm, intracranial berry, 4 intracranial berry aneurysm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0012445 MONDO:0019588 True autosomal recessive nonsyndromic hearing loss 59 hearing loss, autosomal recessive UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0012448 MONDO:0019064 True hereditary spastic paraplegia 33 hereditary spastic paraplegia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0012452 MONDO:0019588 True autosomal recessive nonsyndromic hearing loss 65 hearing loss, autosomal recessive UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0012453 MONDO:0019064 True hereditary spastic paraplegia 31 hereditary spastic paraplegia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0012456 MONDO:0001176 True congenital primary aphakia lens disorder UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0012456 MONDO:0019503 True congenital primary aphakia anterior segment dysgenesis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0012442 MONDO:0019588 True autosomal recessive nonsyndromic hearing loss 66 hearing loss, autosomal recessive UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0012443 MONDO:0016483 True aneurysm, intracranial berry, 4 intracranial berry aneurysm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0012445 MONDO:0019588 True autosomal recessive nonsyndromic hearing loss 59 hearing loss, autosomal recessive UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0012446 MONDO:0019268 True seborrhea-like dermatitis with psoriasiform elements epidermal disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012448 MONDO:0019064 True hereditary spastic paraplegia 33 hereditary spastic paraplegia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0012449 MONDO:0019792 True spinocerebellar ataxia type 23 autosomal dominant cerebellar ataxia type I UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012450 MONDO:0016387 True spinocerebellar ataxia type 28 mitochondrial oxidative phosphorylation disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012450 MONDO:0019792 True spinocerebellar ataxia type 28 autosomal dominant cerebellar ataxia type I UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012452 MONDO:0019588 True autosomal recessive nonsyndromic hearing loss 65 hearing loss, autosomal recessive UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0012453 MONDO:0019064 True hereditary spastic paraplegia 31 hereditary spastic paraplegia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0012455 MONDO:0015159 True Kleefstra syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012456 MONDO:0001176 True congenital primary aphakia lens disorder UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0012456 MONDO:0019503 True congenital primary aphakia anterior segment dysgenesis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED MONDO:0012457 MONDO:0100239 True pyloric stenosis, infantile hypertrophic, 2 inherited hypertrophic pyloric stenosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0012460 MONDO:0019588 True autosomal recessive nonsyndromic hearing loss 67 hearing loss, autosomal recessive UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0012463 MONDO:0019200 True retinitis pigmentosa 35 retinitis pigmentosa UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0012464 MONDO:0015993 True cone-rod dystrophy 10 cone-rod dystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0012467 MONDO:0015526 True cold-induced sweating syndrome 2 cold-induced sweating syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0012460 MONDO:0019588 True autosomal recessive nonsyndromic hearing loss 67 hearing loss, autosomal recessive UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0012463 MONDO:0019200 True retinitis pigmentosa 35 retinitis pigmentosa UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0012464 MONDO:0015993 True cone-rod dystrophy 10 cone-rod dystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0012465 MONDO:0017748 True hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency inborn disorder of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012465 MONDO:0021181 True hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency inherited blood coagulation disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012467 MONDO:0015526 True cold-induced sweating syndrome 2 cold-induced sweating syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED MONDO:0012469 MONDO:0001384 True myopia 14 myopia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0012471 MONDO:0018866 True Aicardi-Goutieres syndrome 3 Aicardi-Goutieres syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0012472 MONDO:0018866 True Aicardi-Goutieres syndrome 4 Aicardi-Goutieres syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0012474 MONDO:0000030 True autosomal dominant nocturnal frontal lobe epilepsy 4 sleep-related hypermotor epilepsy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0012476 MONDO:0019064 True hereditary spastic paraplegia 30 hereditary spastic paraplegia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0012477 MONDO:0019200 True retinitis pigmentosa 33 retinitis pigmentosa UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0012478 MONDO:0000358 True orofacial cleft 9 orofacial cleft UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0012479 MONDO:0000824 True congenital malabsorptive diarrhea 4 congenital diarrhea UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0012483 MONDO:0015993 True cone-rod dystrophy 11 cone-rod dystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0012485 MONDO:0019588 True autosomal recessive nonsyndromic hearing loss 68 hearing loss, autosomal recessive UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0012487 MONDO:0008756 True alopecia-intellectual disability syndrome 2 alopecia - intellectual disability syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0012474 MONDO:0020300 True autosomal dominant nocturnal frontal lobe epilepsy 4 autosomal dominant nocturnal frontal lobe epilepsy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0012475 MONDO:0000455 True cone dystrophy with supernormal rod response cone dystrophy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0012476 MONDO:0019064 True hereditary spastic paraplegia 30 hereditary spastic paraplegia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0012477 MONDO:0019200 True retinitis pigmentosa 33 retinitis pigmentosa UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0012478 MONDO:0000358 True orofacial cleft 9 orofacial cleft UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0012479 MONDO:0000824 True congenital malabsorptive diarrhea 4 congenital diarrhea UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0012481 MONDO:0017708 True mevalonic aciduria mevalonate kinase deficiency UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012483 MONDO:0015993 True cone-rod dystrophy 11 cone-rod dystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0012485 MONDO:0019588 True autosomal recessive nonsyndromic hearing loss 68 hearing loss, autosomal recessive UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0012487 MONDO:0008756 True alopecia-intellectual disability syndrome 2 alopecia - intellectual disability syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED MONDO:0012491 MONDO:0100280 True macroglobulinemia, Waldenstrom, 2 Waldenstrom macroglobulinemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0012492 MONDO:0100170 True restless legs syndrome, susceptibility to, 3 restless legs syndrome, susceptibility to UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0012493 MONDO:0100170 True restless legs syndrome, susceptibility to, 4 restless legs syndrome, susceptibility to UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0012497 MONDO:0016293 True congenital stationary night blindness autosomal dominant 3 congenital stationary night blindness UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0012498 MONDO:0016293 True congenital stationary night blindness autosomal dominant 1 congenital stationary night blindness UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0012495 MONDO:0100510 True spondyloepimetaphyseal dysplasia, Genevieve type spondyloepimetaphyseal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0012496 MONDO:0015159 True Koolen-de Vries syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012497 MONDO:0000426 True congenital stationary night blindness autosomal dominant 3 autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0012497 MONDO:0016293 True congenital stationary night blindness autosomal dominant 3 congenital stationary night blindness UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0012498 MONDO:0016293 True congenital stationary night blindness autosomal dominant 1 congenital stationary night blindness UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED MONDO:0012500 MONDO:0018827 True chilblain lupus 1 familial chilblain lupus UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0012502 MONDO:0018891 True normophosphatemic familial tumoral calcinosis familial tumoral calcinosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012503 MONDO:0000210 True thiopurine S-methyltransferase deficiency thiopurine metabolic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0012504 MONDO:0000429 True camptodactyly-tall stature-scoliosis-hearing loss syndrome autosomal genetic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0012504 MONDO:0019685 True camptodactyly-tall stature-scoliosis-hearing loss syndrome FGFR3-related chondrodysplasia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012505 MONDO:0015999 True pigmented nodular adrenocortical disease, primary, 2 primary pigmented nodular adrenocortical disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0012506 MONDO:0016342 True arrhythmogenic right ventricular dysplasia 11 familial isolated arrhythmogenic right ventricular dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0012507 MONDO:0000455 True retinal cone dystrophy 4 cone dystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0012508 MONDO:0015159 True agammaglobulinemia-microcephaly-craniosynostosis-severe dermatitis syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012508 MONDO:0016463 True agammaglobulinemia-microcephaly-craniosynostosis-severe dermatitis syndrome syndromic agammaglobulinemia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012509 MONDO:0015999 True pigmented nodular adrenocortical disease, primary, 1 primary pigmented nodular adrenocortical disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0012510 MONDO:0000732 True combined oxidative phosphorylation defect type 2 combined oxidative phosphorylation deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0012512 MONDO:0000732 True fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3 combined oxidative phosphorylation deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0012514 MONDO:0019046 True hypomyelinating leukodystrophy 5 leukodystrophy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0012510 MONDO:0000732 True combined oxidative phosphorylation defect type 2 combined oxidative phosphorylation deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0012511 MONDO:0002263 True preterm premature rupture of the membranes female reproductive system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0012512 MONDO:0000732 True fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3 combined oxidative phosphorylation deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0012513 MONDO:0018911 True maturity-onset diabetes of the young type 7 maturity-onset diabetes of the young UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED +MONDO:0012514 MONDO:0019046 True hypomyelinating leukodystrophy 5 leukodystrophy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0012516 MONDO:0000426 True mandibulofacial dysostosis-microcephaly syndrome autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0012516 MONDO:0015159 True mandibulofacial dysostosis-microcephaly syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012516 MONDO:0018237 True mandibulofacial dysostosis-microcephaly syndrome acrofacial dysostosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0012518 MONDO:0000182 True congenital myasthenic syndrome 12 congenital myasthenic syndrome with tubular aggregates UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0012520 MONDO:0001933 True insulin-resistance syndrome type A endocrine pancreas disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012521 MONDO:0006009 True herpes simplex encephalitis viral encephalitis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012523 MONDO:0019200 True retinitis pigmentosa 36 retinitis pigmentosa UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0012525 MONDO:0018998 True Leber congenital amaurosis 12 Leber congenital amaurosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0012526 MONDO:0019623 True hereditary angioedema type 3 hereditary angioedema UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0012529 MONDO:0015253 True Diamond-Blackfan anemia 3 Diamond-Blackfan anemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0012531 MONDO:0019600 True xeroderma pigmentosum group B xeroderma pigmentosum UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0012521 MONDO:0006009 True herpes simplex encephalitis viral encephalitis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012523 MONDO:0019200 True retinitis pigmentosa 36 retinitis pigmentosa UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0012525 MONDO:0018998 True Leber congenital amaurosis 12 Leber congenital amaurosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0012526 MONDO:0019623 True hereditary angioedema type 3 hereditary angioedema UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0012529 MONDO:0015253 True Diamond-Blackfan anemia 3 Diamond-Blackfan anemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0012530 MONDO:0017576 True palmoplantar keratoderma-XX sex reversal-predisposition to squamous cell carcinoma syndrome 46,XX disorder of sex development UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012530 MONDO:0017666 True palmoplantar keratoderma-XX sex reversal-predisposition to squamous cell carcinoma syndrome diffuse palmoplantar keratoderma UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012531 MONDO:0019600 True xeroderma pigmentosum group B xeroderma pigmentosum UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0012532 MONDO:0019180 True hereditary hemorrhagic telangiectasia type 4 hereditary hemorrhagic telangiectasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0012533 MONDO:0020836 True autism, susceptibility to, 7 autism, susceptiblity to UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0012534 MONDO:0000732 True combined oxidative phosphorylation defect type 4 combined oxidative phosphorylation deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0012539 MONDO:0018772 True Joubert syndrome 6 Joubert syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0012540 MONDO:0005150 True age related macular degeneration 4 age-related macular degeneration UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0012547 MONDO:0018997 True Noonan syndrome 4 Noonan syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0012549 MONDO:0015244 True autosomal recessive ataxia, Beauce type autosomal recessive cerebellar ataxia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0012534 MONDO:0000732 True combined oxidative phosphorylation defect type 4 combined oxidative phosphorylation deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0012539 MONDO:0018772 True Joubert syndrome 6 Joubert syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0012540 MONDO:0005150 True age related macular degeneration 4 age-related macular degeneration UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0012544 MONDO:0000429 True brachydactyly-syndactyly syndrome autosomal genetic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0012545 MONDO:0015611 True neutral lipid storage myopathy neutral lipid storage disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012547 MONDO:0018997 True Noonan syndrome 4 Noonan syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0012548 MONDO:0015356 True Kostmann syndrome hereditary neoplastic syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012548 MONDO:0028226 True Kostmann syndrome autosomal recessive severe congenital neutropenia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012549 MONDO:0015244 True autosomal recessive ataxia, Beauce type autosomal recessive cerebellar ataxia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED MONDO:0012551 MONDO:0000005 True alopecia areata 2 alopecia, isolated UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0012552 MONDO:0017169 True multiple endocrine neoplasia type 4 multiple endocrine neoplasia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0012553 MONDO:0008926 True cerebrooculofacioskeletal syndrome 2 COFS syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0012554 MONDO:0008926 True cerebrooculofacioskeletal syndrome 4 COFS syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0012555 MONDO:0016033 True Cornelia de Lange syndrome 3 Cornelia de Lange syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0012556 MONDO:0005500 True DK1-congenital disorder of glycosylation congenital disorder of glycosylation type I UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0012561 MONDO:0019719 True congenital anomalies of kidney and urinary tract 1 congenital anomaly of kidney and urinary tract UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0012562 MONDO:0016296 True holoprosencephaly 7 holoprosencephaly UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0012565 MONDO:0019391 True Fanconi anemia complementation group N Fanconi anemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0012552 MONDO:0000426 True multiple endocrine neoplasia type 4 autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0012552 MONDO:0017169 True multiple endocrine neoplasia type 4 multiple endocrine neoplasia UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0012553 MONDO:0008926 True cerebrooculofacioskeletal syndrome 2 COFS syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0012554 MONDO:0008926 True cerebrooculofacioskeletal syndrome 4 COFS syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0012555 MONDO:0016033 True Cornelia de Lange syndrome 3 Cornelia de Lange syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0012556 MONDO:0005500 True DK1-congenital disorder of glycosylation congenital disorder of glycosylation type I UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0012556 MONDO:0016333 True DK1-congenital disorder of glycosylation familial dilated cardiomyopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0012556 MONDO:0017749 True DK1-congenital disorder of glycosylation disorder of multiple glycosylation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012557 MONDO:0016801 True cardiomyopathy-hypotonia-lactic acidosis syndrome mitochondrial substrate carrier disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012559 MONDO:0015134 True primary immunodeficiency syndrome due to p14 deficiency constitutional neutropenia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012561 MONDO:0019719 True congenital anomalies of kidney and urinary tract 1 congenital anomaly of kidney and urinary tract UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0012562 MONDO:0016296 True holoprosencephaly 7 holoprosencephaly UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0012565 MONDO:0019391 True Fanconi anemia complementation group N Fanconi anemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED MONDO:0012566 MONDO:0020836 True autism, susceptibility to, 11 autism, susceptiblity to UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0012567 MONDO:0020836 True autism, susceptibility to, 12 autism, susceptiblity to UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0012569 MONDO:0008004 True mitral valve prolapse, myxomatous 3 familial mitral valve prolapse UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0012571 MONDO:0016575 True primary ciliary dyskinesia 6 primary ciliary dyskinesia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0012571 MONDO:0016575 True primary ciliary dyskinesia 6 primary ciliary dyskinesia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED MONDO:0012573 MONDO:0017329 True vesicoureteral reflux 2 familial vesicoureteral reflux UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0012574 MONDO:0002254 True Potocki-Lupski syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0012574 MONDO:0003847 True Potocki-Lupski syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0012574 MONDO:0016950 True Potocki-Lupski syndrome partial duplication of the short arm of chromosome 17 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012575 MONDO:0007029 True branchiootorenal syndrome 2 branchio-oto-renal syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0012578 MONDO:0020836 True autism, susceptibility to, 13 autism, susceptiblity to UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0012582 MONDO:0012580 True interstitial lung disease due to ABCA3 deficiency hereditary pulmonary alveolar proteinosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0012583 MONDO:0005486 True tooth agenesis, selective, 5 tooth agenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0012588 MONDO:0016295 True neuronal ceroid lipofuscinosis 7 neuronal ceroid lipofuscinosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0012589 MONDO:0002254 True Pitt-Hopkins syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0012590 MONDO:0002254 True XFE progeroid syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0012588 MONDO:0016295 True neuronal ceroid lipofuscinosis 7 neuronal ceroid lipofuscinosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0012589 MONDO:0002254 True Pitt-Hopkins syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0012589 MONDO:0003847 True Pitt-Hopkins syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0012589 MONDO:0015159 True Pitt-Hopkins syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012590 MONDO:0002254 True XFE progeroid syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0012590 MONDO:0003847 True XFE progeroid syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0012594 MONDO:0003832 True complement factor I deficiency complement deficiency UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0012596 MONDO:0018162 True PSAT deficiency neurometabolic disorder due to serine deficiency UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012598 MONDO:0016070 True fibromatosis, gingival, 4 hereditary gingival fibromatosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0012600 MONDO:0020836 True autism, susceptibility to, 9 autism, susceptiblity to UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0012601 MONDO:0020836 True autism, susceptibility to, 10 autism, susceptiblity to UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0012602 MONDO:0019588 True autosomal recessive nonsyndromic hearing loss 24 hearing loss, autosomal recessive UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0012602 MONDO:0019588 True autosomal recessive nonsyndromic hearing loss 24 hearing loss, autosomal recessive UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED MONDO:0012603 MONDO:0044202 True episodic kinesigenic dyskinesia 2 episodic kinesigenic dyskinesia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0012604 MONDO:0000062 True isolated microphthalmia 3 isolated microphthalmia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0012605 MONDO:0000062 True isolated microphthalmia 5 isolated microphthalmia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0012610 MONDO:0005265 True inflammatory bowel disease 10 inflammatory bowel disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0012612 MONDO:0019502 True intellectual disability, autosomal recessive 12 autosomal recessive non-syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0012613 MONDO:0019502 True intellectual disability, autosomal recessive 5 autosomal recessive non-syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0012614 MONDO:0019502 True intellectual disability, autosomal recessive 6 autosomal recessive non-syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0012615 MONDO:0019502 True intellectual disability, autosomal recessive 7 autosomal recessive non-syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0012617 MONDO:0019502 True intellectual disability, autosomal recessive 9 autosomal recessive non-syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0012618 MONDO:0019502 True intellectual disability, autosomal recessive 10 autosomal recessive non-syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0012619 MONDO:0019502 True intellectual disability, autosomal recessive 11 autosomal recessive non-syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0012623 MONDO:0019502 True intellectual disability, autosomal recessive 4 autosomal recessive non-syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0012625 MONDO:0019200 True retinitis pigmentosa 37 retinitis pigmentosa UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0012626 MONDO:0018921 True Meckel syndrome, type 4 Meckel syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0012635 MONDO:0005501 True COG8-congenital disorder of glycosylation congenital disorder of glycosylation type II UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0012604 MONDO:0000062 True isolated microphthalmia 3 isolated microphthalmia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0012605 MONDO:0000062 True isolated microphthalmia 5 isolated microphthalmia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0012608 MONDO:0001516 True neuronopathy, distal hereditary motor, autosomal recessive 4 spinal muscular atrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0012608 MONDO:0015363 True neuronopathy, distal hereditary motor, autosomal recessive 4 neuronopathy, distal hereditary motor, autosomal recessive UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0012610 MONDO:0005265 True inflammatory bowel disease 10 inflammatory bowel disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0012611 MONDO:0015653 True polyhydramnios, megalencephaly, and symptomatic epilepsy monogenic epilepsy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012612 MONDO:0019502 True intellectual disability, autosomal recessive 12 autosomal recessive non-syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0012613 MONDO:0019502 True intellectual disability, autosomal recessive 5 autosomal recessive non-syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0012614 MONDO:0019502 True intellectual disability, autosomal recessive 6 autosomal recessive non-syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0012615 MONDO:0019502 True intellectual disability, autosomal recessive 7 autosomal recessive non-syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0012617 MONDO:0019502 True intellectual disability, autosomal recessive 9 autosomal recessive non-syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0012618 MONDO:0019502 True intellectual disability, autosomal recessive 10 autosomal recessive non-syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0012619 MONDO:0019502 True intellectual disability, autosomal recessive 11 autosomal recessive non-syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0012621 MONDO:0016913 True deafness-infertility syndrome partial deletion of the long arm of chromosome 15 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012622 MONDO:0016387 True leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome mitochondrial oxidative phosphorylation disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012622 MONDO:0019046 True leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome leukodystrophy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0012623 MONDO:0019502 True intellectual disability, autosomal recessive 4 autosomal recessive non-syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0012625 MONDO:0019200 True retinitis pigmentosa 37 retinitis pigmentosa UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0012626 MONDO:0018921 True Meckel syndrome, type 4 Meckel syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0012635 MONDO:0005501 True COG8-congenital disorder of glycosylation congenital disorder of glycosylation type II UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0012635 MONDO:0017750 True COG8-congenital disorder of glycosylation defect in conserved oligomeric Golgi complex UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012636 MONDO:0100170 True restless legs syndrome, susceptibility to, 6 restless legs syndrome, susceptibility to UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0012637 MONDO:0005501 True COG1-congenital disorder of glycosylation congenital disorder of glycosylation type II UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0012638 MONDO:0016073 True microphthalmia-brain atrophy syndrome syndromic microphthalmia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0012637 MONDO:0005501 True COG1-congenital disorder of glycosylation congenital disorder of glycosylation type II UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0012637 MONDO:0015327 True COG1-congenital disorder of glycosylation developmental anomaly of metabolic origin UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012637 MONDO:0017750 True COG1-congenital disorder of glycosylation defect in conserved oligomeric Golgi complex UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012638 MONDO:0016073 True microphthalmia-brain atrophy syndrome syndromic microphthalmia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0012638 MONDO:0024237 True microphthalmia-brain atrophy syndrome inherited neurodegenerative disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012640 MONDO:0018995 True Charcot-Marie-Tooth disease type 4J Charcot-Marie-Tooth disease type 4 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0012641 MONDO:0100170 True restless legs syndrome, susceptibility to, 5 restless legs syndrome, susceptibility to UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0012644 MONDO:0018770 True asphyxiating thoracic dystrophy 2 Jeune syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0012651 MONDO:0017845 True spastic ataxia 2 spastic ataxia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0012652 MONDO:0015152 True autosomal recessive limb-girdle muscular dystrophy type 2L autosomal recessive limb-girdle muscular dystrophy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0012643 MONDO:0015150 True hereditary spastic paraplegia 32 complex hereditary spastic paraplegia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012644 MONDO:0018770 True asphyxiating thoracic dystrophy 2 Jeune syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0012648 MONDO:0019215 True isobutyryl-CoA dehydrogenase deficiency classic organic aciduria UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012650 MONDO:0031520 True Cernunnos-XLF deficiency familial severe combined immunodeficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0012651 MONDO:0015150 True spastic ataxia 2 complex hereditary spastic paraplegia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012651 MONDO:0017845 True spastic ataxia 2 spastic ataxia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0012652 MONDO:0015152 True autosomal recessive limb-girdle muscular dystrophy type 2L autosomal recessive limb-girdle muscular dystrophy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED MONDO:0012653 MONDO:0019631 True persistent hyperplastic primary vitreous, autosomal dominant persistent hyperplastic primary vitreous UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0012654 MONDO:0006664 True atrial septal defect 4 atrial septal defect UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0012656 MONDO:0017436 True lethal congenital contracture syndrome 3 lethal congenital contracture syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0012659 MONDO:0005150 True age related macular degeneration 9 age-related macular degeneration UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0012654 MONDO:0006664 True atrial septal defect 4 atrial septal defect UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0012656 MONDO:0015161 True lethal congenital contracture syndrome 3 multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012656 MONDO:0017436 True lethal congenital contracture syndrome 3 lethal congenital contracture syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0012658 MONDO:0019676 True brachydactyly type B2 brachydactyly type B UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012659 MONDO:0005150 True age related macular degeneration 9 age-related macular degeneration UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0012662 MONDO:0016484 True Usher syndrome type 2D Usher syndrome type 2 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0012664 MONDO:0016387 True spastic ataxia 3 mitochondrial oxidative phosphorylation disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012664 MONDO:0017847 True spastic ataxia 3 autosomal recessive spastic ataxia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012667 MONDO:0016333 True dilated cardiomyopathy 1W familial dilated cardiomyopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0012670 MONDO:0019588 True autosomal recessive nonsyndromic hearing loss 63 hearing loss, autosomal recessive UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0012671 MONDO:0003233 True tremor, hereditary essential, 3 essential tremor UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0012669 MONDO:0019289 True Legius syndrome hyperpigmentation of the skin UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012670 MONDO:0019588 True autosomal recessive nonsyndromic hearing loss 63 hearing loss, autosomal recessive UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0012671 MONDO:0003233 True tremor, hereditary essential, 3 essential tremor UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED MONDO:0012672 MONDO:0700225 True cholelithiasis hereditary gallbladder disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0012674 MONDO:0005150 True age related macular degeneration 10 age-related macular degeneration UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0012674 MONDO:0005150 True age related macular degeneration 10 age-related macular degeneration UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0012675 MONDO:0003847 True corticosteroid-binding globulin deficiency hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0012675 MONDO:0005495 True corticosteroid-binding globulin deficiency adrenal gland disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0012676 MONDO:0019026 True autosomal recessive osteopetrosis 4 autosomal recessive osteopetrosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0012677 MONDO:0018054 True atrial fibrillation, familial, 4 familial atrial fibrillation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0012678 MONDO:0018054 True atrial fibrillation, familial, 5 familial atrial fibrillation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0012679 MONDO:0019026 True autosomal recessive osteopetrosis 6 autosomal recessive osteopetrosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0012680 MONDO:0019005 True nephronophthisis 7 nephronophthisis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0012681 MONDO:0000032 True febrile seizures, familial, 7 febrile seizures, familial UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0012683 MONDO:0020135 True pontocerebellar hypoplasia type 6 pontocerebellar hypoplasia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0012680 MONDO:0019005 True nephronophthisis 7 nephronophthisis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0012681 MONDO:0000032 True febrile seizures, familial, 7 febrile seizures, familial UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0012682 MONDO:0015979 True immunodeficiency 35 hereditary predisposition to infections UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012683 MONDO:0016387 True pontocerebellar hypoplasia type 6 mitochondrial oxidative phosphorylation disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012683 MONDO:0020135 True pontocerebellar hypoplasia type 6 pontocerebellar hypoplasia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED MONDO:0012684 MONDO:0016342 True arrhythmogenic right ventricular dysplasia 12 familial isolated arrhythmogenic right ventricular dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0012689 MONDO:0019852 True premature ovarian failure 5 inherited primary ovarian failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0012690 MONDO:0018997 True Noonan syndrome 5 Noonan syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0012691 MONDO:0007893 True LEOPARD syndrome 2 Noonan syndrome with multiple lentigines UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0012694 MONDO:0018772 True Joubert syndrome 7 Joubert syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0012695 MONDO:0018921 True Meckel syndrome, type 5 Meckel syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0012690 MONDO:0018997 True Noonan syndrome 5 Noonan syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0012691 MONDO:0007893 True LEOPARD syndrome 2 Noonan syndrome with multiple lentigines UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0012693 MONDO:0002412 True glycogen storage disease due to muscle and heart glycogen synthase deficiency disorder of glycogen metabolism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0012694 MONDO:0018772 True Joubert syndrome 7 Joubert syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0012695 MONDO:0018921 True Meckel syndrome, type 5 Meckel syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED MONDO:0012696 MONDO:0005349 True otosclerosis 4 otosclerosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0012697 MONDO:0005349 True otosclerosis 7 otosclerosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0012699 MONDO:0000173 True autosomal recessive limb-girdle muscular dystrophy type 2M muscular dystrophy-dystroglycanopathy, type C UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0012699 MONDO:0015152 True autosomal recessive limb-girdle muscular dystrophy type 2M autosomal recessive limb-girdle muscular dystrophy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0012700 MONDO:0015827 True renal tubular acidosis, distal, 4, with hemolytic anemia distal renal tubular acidosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0012701 MONDO:0005129 True cataract 12 multiple types cataract UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0012699 MONDO:0015152 True autosomal recessive limb-girdle muscular dystrophy type 2M autosomal recessive limb-girdle muscular dystrophy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0012699 MONDO:0016333 True autosomal recessive limb-girdle muscular dystrophy type 2M familial dilated cardiomyopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0012700 MONDO:0015827 True renal tubular acidosis, distal, 4, with hemolytic anemia distal renal tubular acidosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0012701 MONDO:0005129 True cataract 12 multiple types cataract UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED MONDO:0012704 MONDO:0016333 True dilated cardiomyopathy 1X familial dilated cardiomyopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0012705 MONDO:0005115 True familial temporal lobe epilepsy 3 temporal lobe epilepsy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0012706 MONDO:0005115 True familial temporal lobe epilepsy 4 temporal lobe epilepsy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0012707 MONDO:0000032 True familial febrile seizures 9 febrile seizures, familial UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0012705 MONDO:0005115 True familial temporal lobe epilepsy 3 temporal lobe epilepsy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0012706 MONDO:0005115 True familial temporal lobe epilepsy 4 temporal lobe epilepsy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0012707 MONDO:0000032 True familial febrile seizures 9 febrile seizures, familial UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED MONDO:0012709 MONDO:0000170 True microphthalmia, isolated, with coloboma 5 microphthalmia, isolated, with coloboma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0012713 MONDO:0016763 True spondylometaphyseal dysplasia, East African type spondylometaphyseal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED +MONDO:0012714 MONDO:0016333 True early-onset myopathy with fatal cardiomyopathy familial dilated cardiomyopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0012714 MONDO:0019056 True early-onset myopathy with fatal cardiomyopathy neuromuscular disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0012715 MONDO:0100246 True migraine with or without aura, susceptibility to, 12 migraine with or without aura, susceptibility to UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0012718 MONDO:0000732 True hypotonia with lactic acidemia and hyperammonemia combined oxidative phosphorylation deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0012721 MONDO:0016295 True progressive myoclonic epilepsy type 3 neuronal ceroid lipofuscinosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0012721 MONDO:0020074 True progressive myoclonic epilepsy type 3 progressive myoclonus epilepsy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0012723 MONDO:0018998 True Leber congenital amaurosis 10 Leber congenital amaurosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0012724 MONDO:0018768 True familial cold autoinflammatory syndrome 2 familial cold autoinflammatory syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0012727 MONDO:0018882 True mucocutaneous lymph node syndrome vasculitis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0012728 MONDO:0015263 True Brugada syndrome 2 Brugada syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0012729 MONDO:0001115 True erythrocytosis, familial, 4 familial polycythemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0012716 MONDO:0016761 True spondyloepiphyseal dysplasia, Cantu type spondyloepiphyseal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0012718 MONDO:0000732 True hypotonia with lactic acidemia and hyperammonemia combined oxidative phosphorylation deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0012721 MONDO:0016295 True progressive myoclonic epilepsy type 3 neuronal ceroid lipofuscinosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0012721 MONDO:0020074 True progressive myoclonic epilepsy type 3 progressive myoclonus epilepsy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0012723 MONDO:0018998 True Leber congenital amaurosis 10 Leber congenital amaurosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0012724 MONDO:0018768 True familial cold autoinflammatory syndrome 2 familial cold autoinflammatory syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0012725 MONDO:0015905 True lipoprotein glomerulopathy syndromic dyslipidemia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012727 MONDO:0002052 True mucocutaneous lymph node syndrome lymphadenitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0012727 MONDO:0018882 True mucocutaneous lymph node syndrome vasculitis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0012728 MONDO:0015263 True Brugada syndrome 2 Brugada syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0012729 MONDO:0001115 True erythrocytosis, familial, 4 familial polycythemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED MONDO:0012730 MONDO:0019625 True aortic aneurysm, familial thoracic 6 familial thoracic aortic aneurysm and aortic dissection UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0012733 MONDO:0003004 True autosomal recessive bestrophinopathy macular degeneration UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0012736 MONDO:0019171 True long QT syndrome 9 familial long QT syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0012737 MONDO:0019171 True long QT syndrome 10 familial long QT syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0012738 MONDO:0019171 True long QT syndrome 11 familial long QT syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0012742 MONDO:0015263 True Brugada syndrome 3 Brugada syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0012743 MONDO:0015263 True Brugada syndrome 4 Brugada syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0012742 MONDO:0015263 True Brugada syndrome 3 Brugada syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0012743 MONDO:0015263 True Brugada syndrome 4 Brugada syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED MONDO:0012744 MONDO:0018901 True dilated cardiomyopathy 1Y left ventricular noncompaction UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS MONDO:0012745 MONDO:0016333 True dilated cardiomyopathy 1Z familial dilated cardiomyopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0012746 MONDO:0016333 True dilated cardiomyopathy 2A familial dilated cardiomyopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0012748 MONDO:0016575 True primary ciliary dyskinesia 7 primary ciliary dyskinesia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0012748 MONDO:0016575 True primary ciliary dyskinesia 7 primary ciliary dyskinesia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0012750 MONDO:0015168 True lethal arthrogryposis-anterior horn cell disease syndrome arthrogryposis multiplex congenita UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0012751 MONDO:0007031 True aortic aneurysm, familial abdominal, 3 familial abdominal aortic aneurysm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0012752 MONDO:0016483 True aneurysm, intracranial berry, 6 intracranial berry aneurysm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0012752 MONDO:0016483 True aneurysm, intracranial berry, 6 intracranial berry aneurysm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED MONDO:0012753 MONDO:0005144 True amyotrophic lateral sclerosis type 9 familial amyotrophic lateral sclerosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0012754 MONDO:0005514 True nanophthalmos 3 nanophthalmia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0012755 MONDO:0016227 True episodic ataxia type 7 hereditary episodic ataxia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0012762 MONDO:0017990 True catecholaminergic polymorphic ventricular tachycardia 2 catecholaminergic polymorphic ventricular tachycardia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0012765 MONDO:0019313 True lymphatic malformation 2 lymphatic malformation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0012767 MONDO:0005150 True age related macular degeneration 11 age-related macular degeneration UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0012755 MONDO:0016227 True episodic ataxia type 7 hereditary episodic ataxia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0012756 MONDO:0016894 True proximal 16p11.2 microdeletion syndrome partial deletion of the short arm of chromosome 16 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012757 MONDO:0017015 True lung fibrosis-immunodeficiency-46,XX gonadal dysgenesis syndrome primary interstitial lung disease specific to childhood UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012757 MONDO:0044200 True lung fibrosis-immunodeficiency-46,XX gonadal dysgenesis syndrome T-B+ severe combined immunodeficiency UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012759 MONDO:0015159 True camptodactyly syndrome, Guadalajara type 3 multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012759 MONDO:0018234 True camptodactyly syndrome, Guadalajara type 3 dysostosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012761 MONDO:0016954 True chromosome 3q29 microduplication syndrome partial duplication of the long arm of chromosome 3 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012762 MONDO:0017990 True catecholaminergic polymorphic ventricular tachycardia 2 catecholaminergic polymorphic ventricular tachycardia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0012764 MONDO:0015244 True RIDDLE syndrome autosomal recessive cerebellar ataxia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS +MONDO:0012765 MONDO:0019313 True lymphatic malformation 2 lymphatic malformation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0012766 MONDO:0015149 True hereditary spastic paraplegia 37 pure hereditary spastic paraplegia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012767 MONDO:0005150 True age related macular degeneration 11 age-related macular degeneration UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0012774 MONDO:0015159 True chromosome 15q13.3 microdeletion syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012774 MONDO:0016913 True chromosome 15q13.3 microdeletion syndrome partial deletion of the long arm of chromosome 15 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012775 MONDO:0100241 True thrombocytopenia 4 inherited thrombocytopenia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0012783 MONDO:0005500 True RFT1-congenital disorder of glycosylation congenital disorder of glycosylation type I UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0012784 MONDO:0015244 True autosomal recessive ataxia due to ubiquinone deficiency autosomal recessive cerebellar ataxia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0012784 MONDO:0018151 True autosomal recessive ataxia due to ubiquinone deficiency coenzyme Q10 deficiency UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0012783 MONDO:0005500 True RFT1-congenital disorder of glycosylation congenital disorder of glycosylation type I UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0012783 MONDO:0015327 True RFT1-congenital disorder of glycosylation developmental anomaly of metabolic origin UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012783 MONDO:0017740 True RFT1-congenital disorder of glycosylation disorder of protein N-glycosylation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012784 MONDO:0015244 True autosomal recessive ataxia due to ubiquinone deficiency autosomal recessive cerebellar ataxia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0012784 MONDO:0018151 True autosomal recessive ataxia due to ubiquinone deficiency coenzyme Q10 deficiency UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED MONDO:0012785 MONDO:0100239 True pyloric stenosis, infantile hypertrophic, 3 inherited hypertrophic pyloric stenosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0012786 MONDO:0000426 True juvenile cataract-microcornea-renal glucosuria syndrome autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0012786 MONDO:0017706 True juvenile cataract-microcornea-renal glucosuria syndrome disorder of carbohydrate transmembrane transport and absorption UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012787 MONDO:0015150 True hereditary spastic paraplegia 39 complex hereditary spastic paraplegia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012787 MONDO:0018117 True hereditary spastic paraplegia 39 disorder of phospholipids, sphingolipids and fatty acids biosynthesis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012789 MONDO:0000478 True dystonia 16 multifocal dystonia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0012789 MONDO:0020065 True dystonia 16 combined dystonia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012790 MONDO:0005144 True amyotrophic lateral sclerosis type 10 familial amyotrophic lateral sclerosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0012796 MONDO:0019200 True retinitis pigmentosa 41 retinitis pigmentosa UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0012791 MONDO:0016796 True mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria mitochondrial DNA depletion syndrome, encephalomyopathic form UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012792 MONDO:0016796 True mitochondrial DNA depletion syndrome 8a mitochondrial DNA depletion syndrome, encephalomyopathic form UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012794 MONDO:0002254 True ANE syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0012794 MONDO:0015770 True ANE syndrome congenital hypogonadotropic hypogonadism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012794 MONDO:0018762 True ANE syndrome non-acquired combined pituitary hormone deficiency UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012796 MONDO:0019200 True retinitis pigmentosa 41 retinitis pigmentosa UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED MONDO:0012797 MONDO:0005349 True otosclerosis 8 otosclerosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0012799 MONDO:0024573 True hypertrophic cardiomyopathy 11 familial hypertrophic cardiomyopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0012799 MONDO:0024573 True hypertrophic cardiomyopathy 11 familial hypertrophic cardiomyopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED MONDO:0012801 MONDO:0020836 True autism, susceptibility to, 15 autism, susceptiblity to UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0012804 MONDO:0024573 True hypertrophic cardiomyopathy 12 familial hypertrophic cardiomyopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0012802 MONDO:0016073 True oculoauricular syndrome syndromic microphthalmia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS +MONDO:0012803 MONDO:0017706 True diarrhea-vomiting due to trehalase deficiency disorder of carbohydrate transmembrane transport and absorption UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012804 MONDO:0024573 True hypertrophic cardiomyopathy 12 familial hypertrophic cardiomyopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED MONDO:0012805 MONDO:0000188 True childhood onset GLUT1 deficiency syndrome 2 GLUT1 deficiency syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0012806 MONDO:0010293 True ectodermal dysplasia and immunodeficiency 2 ectodermal dysplasia and immune deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0012807 MONDO:0017610 True epidermolysis bullosa simplex 5C, with pyloric atresia epidermolysis bullosa simplex UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0012805 MONDO:0015427 True childhood onset GLUT1 deficiency syndrome 2 paroxysmal dyskinesia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012806 MONDO:0010293 True ectodermal dysplasia and immunodeficiency 2 ectodermal dysplasia and immune deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0012807 MONDO:0017610 True epidermolysis bullosa simplex 5C, with pyloric atresia epidermolysis bullosa simplex UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0012808 MONDO:0016333 True dilated cardiomyopathy 1AA familial dilated cardiomyopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0012810 MONDO:0016483 True aneurysm, intracranial berry, 7 intracranial berry aneurysm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0012811 MONDO:0016483 True aneurysm, intracranial berry, 8 intracranial berry aneurysm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0012812 MONDO:0100062 True developmental and epileptic encephalopathy, 4 developmental and epileptic encephalopathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0012813 MONDO:0019200 True retinitis pigmentosa 29 retinitis pigmentosa UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0012810 MONDO:0016483 True aneurysm, intracranial berry, 7 intracranial berry aneurysm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0012811 MONDO:0016483 True aneurysm, intracranial berry, 8 intracranial berry aneurysm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0012812 MONDO:0100062 True developmental and epileptic encephalopathy, 4 developmental and epileptic encephalopathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0012813 MONDO:0019200 True retinitis pigmentosa 29 retinitis pigmentosa UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED MONDO:0012816 MONDO:0018054 True atrial fibrillation, familial, 6 familial atrial fibrillation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0012817 MONDO:0005089 True Ewing sarcoma sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0012817 MONDO:0005089 True Ewing sarcoma sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0012817 MONDO:0021038 True Ewing sarcoma Ewing sarcoma/peripheral primitive neuroectodermal tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012825 MONDO:0018078 True extraskeletal myxoid chondrosarcoma soft tissue sarcoma UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012818 MONDO:0018911 True maturity-onset diabetes of the young type 9 maturity-onset diabetes of the young UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED +MONDO:0012824 MONDO:0017226 True hypomyelinating leukodystrophy 4 Pelizaeus-Merzbacher-like disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012825 MONDO:0018078 True extraskeletal myxoid chondrosarcoma soft tissue sarcoma UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012828 MONDO:0018054 True atrial fibrillation, familial, 7 familial atrial fibrillation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0012829 MONDO:0005265 True inflammatory bowel disease 12 inflammatory bowel disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0012831 MONDO:0005265 True inflammatory bowel disease 13 inflammatory bowel disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0012832 MONDO:0005265 True inflammatory bowel disease 14 inflammatory bowel disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0012837 MONDO:0005265 True inflammatory bowel disease 15 inflammatory bowel disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0012838 MONDO:0005265 True inflammatory bowel disease 16 inflammatory bowel disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0012840 MONDO:0005265 True inflammatory bowel disease 17 inflammatory bowel disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0012841 MONDO:0005265 True inflammatory bowel disease 18 inflammatory bowel disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0012829 MONDO:0005265 True inflammatory bowel disease 12 inflammatory bowel disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0012830 MONDO:0016909 True chromosome 10q23 deletion syndrome partial monosomy of the long arm of chromosome 10 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012831 MONDO:0005265 True inflammatory bowel disease 13 inflammatory bowel disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0012832 MONDO:0005265 True inflammatory bowel disease 14 inflammatory bowel disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0012833 MONDO:0000426 True Crouzon syndrome-acanthosis nigricans syndrome autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0012833 MONDO:0015338 True Crouzon syndrome-acanthosis nigricans syndrome syndromic craniosynostosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012837 MONDO:0005265 True inflammatory bowel disease 15 inflammatory bowel disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0012838 MONDO:0005265 True inflammatory bowel disease 16 inflammatory bowel disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0012839 MONDO:0015979 True pyogenic bacterial infections due to MyD88 deficiency hereditary predisposition to infections UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012840 MONDO:0005265 True inflammatory bowel disease 17 inflammatory bowel disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0012841 MONDO:0005265 True inflammatory bowel disease 18 inflammatory bowel disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED MONDO:0012842 MONDO:0024462 True melanoma, cutaneous malignant, susceptibility to, 7 susceptibility to familial cutaneous melanoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0012844 MONDO:0016575 True primary ciliary dyskinesia 8 primary ciliary dyskinesia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0012845 MONDO:0005265 True inflammatory bowel disease 19 inflammatory bowel disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0012846 MONDO:0018214 True generalized epilepsy with febrile seizures plus, type 6 generalized epilepsy with febrile seizures plus UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0012848 MONDO:0018921 True Meckel syndrome, type 6 Meckel syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0012849 MONDO:0018772 True Joubert syndrome 9 Joubert syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0012850 MONDO:0000079 True hypophosphatemic nephrolithiasis/osteoporosis 1 nephrolithiasis/osteoporosis, hypophosphatemic UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0012851 MONDO:0000079 True hypophosphatemic nephrolithiasis/osteoporosis 2 nephrolithiasis/osteoporosis, hypophosphatemic UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0012852 MONDO:0005265 True inflammatory bowel disease 20 inflammatory bowel disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0012855 MONDO:0018772 True Joubert syndrome 8 Joubert syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0012844 MONDO:0016575 True primary ciliary dyskinesia 8 primary ciliary dyskinesia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0012845 MONDO:0005265 True inflammatory bowel disease 19 inflammatory bowel disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0012846 MONDO:0018214 True generalized epilepsy with febrile seizures plus, type 6 generalized epilepsy with febrile seizures plus UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0012848 MONDO:0018921 True Meckel syndrome, type 6 Meckel syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0012849 MONDO:0018772 True Joubert syndrome 9 Joubert syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0012850 MONDO:0000079 True hypophosphatemic nephrolithiasis/osteoporosis 1 nephrolithiasis/osteoporosis, hypophosphatemic UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0012851 MONDO:0000079 True hypophosphatemic nephrolithiasis/osteoporosis 2 nephrolithiasis/osteoporosis, hypophosphatemic UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0012852 MONDO:0005265 True inflammatory bowel disease 20 inflammatory bowel disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0012853 MONDO:0015161 True Fontaine progeroid syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012853 MONDO:0019287 True Fontaine progeroid syndrome ectodermal dysplasia syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0012855 MONDO:0018772 True Joubert syndrome 8 Joubert syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0012856 MONDO:0000426 True Birk-Barel syndrome autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0012858 MONDO:0020127 True primary CD59 deficiency hereditary peripheral neuropathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012859 MONDO:0019026 True autosomal recessive osteopetrosis 7 autosomal recessive osteopetrosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0012860 MONDO:0019145 True thrombophilia due to protein C deficiency, autosomal recessive hereditary thrombophilia due to congenital protein C deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0012861 MONDO:0019852 True premature ovarian failure 6 inherited primary ovarian failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0012866 MONDO:0019064 True hereditary spastic paraplegia 35 hereditary spastic paraplegia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0012864 MONDO:0016901 True chromosome 2q32-q33 deletion syndrome partial deletion of the long arm of chromosome 2 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012864 MONDO:0100147 True chromosome 2q32-q33 deletion syndrome SATB2 associated disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012866 MONDO:0019064 True hereditary spastic paraplegia 35 hereditary spastic paraplegia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0012867 MONDO:0015087 True hereditary spastic paraplegia 38 autosomal dominant complex spastic paraplegia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012868 MONDO:0000426 True thrombophilia due to protein S deficiency, autosomal dominant autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0012869 MONDO:0015802 True intellectual disability, autosomal dominant 22 autosomal dominant non-syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0012871 MONDO:0002441 True Jervell and Lange-Nielsen syndrome 2 Jervell and Lange-Nielsen syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0012872 MONDO:0100240 True thrombophilia, familial, due to decreased release of tissue plasminogen activator inherited thrombophilia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0012875 MONDO:0005265 True inflammatory bowel disease 21 inflammatory bowel disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0012875 MONDO:0005265 True inflammatory bowel disease 21 inflammatory bowel disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED MONDO:0012876 MONDO:0100240 True heparin cofactor 2 deficiency inherited thrombophilia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0012883 MONDO:0018874 True acute promyelocytic leukemia acute myeloid leukemia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS -MONDO:0012885 MONDO:0005500 True SRD5A3-congenital disorder of glycosylation congenital disorder of glycosylation type I UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0012886 MONDO:0005265 True inflammatory bowel disease 22 inflammatory bowel disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0012887 MONDO:0005265 True inflammatory bowel disease 23 inflammatory bowel disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0012897 MONDO:0009332 True congenital factor XI deficiency congenital hematological disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012897 MONDO:0020587 True congenital factor XI deficiency factor XI deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012883 MONDO:0018874 True acute promyelocytic leukemia acute myeloid leukemia UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED +MONDO:0012885 MONDO:0005500 True SRD5A3-congenital disorder of glycosylation congenital disorder of glycosylation type I UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0012885 MONDO:0017749 True SRD5A3-congenital disorder of glycosylation disorder of multiple glycosylation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012886 MONDO:0005265 True inflammatory bowel disease 22 inflammatory bowel disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0012887 MONDO:0005265 True inflammatory bowel disease 23 inflammatory bowel disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0012890 MONDO:0016759 True pontocerebellar hypoplasia type 2B pontocerebellar hypoplasia type 2 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0012891 MONDO:0016759 True pontocerebellar hypoplasia type 2C pontocerebellar hypoplasia type 2 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0012892 MONDO:0019755 True bone fragility with contractures, arterial rupture, and deafness developmental defect during embryogenesis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012895 MONDO:0015990 True torsion dystonia 17 focal, segmental or multifocal dystonia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012897 MONDO:0000429 True congenital factor XI deficiency autosomal genetic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0012897 MONDO:0021181 True congenital factor XI deficiency inherited blood coagulation disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012899 MONDO:0000005 True alopecia, androgenetic, 3 alopecia, isolated UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0012900 MONDO:0016340 True cardiomyopathy, familial restrictive, 3 familial restrictive cardiomyopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0012902 MONDO:0019587 True autosomal dominant nonsyndromic hearing loss 27 autosomal dominant nonsyndromic hearing loss UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0012903 MONDO:0019588 True autosomal recessive nonsyndromic hearing loss 45 hearing loss, autosomal recessive UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0012904 MONDO:0020074 True epilepsy, progressive myoclonic, 1B progressive myoclonus epilepsy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0012905 MONDO:0019046 True hypomyelinating leukodystrophy 6 leukodystrophy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0012906 MONDO:0016575 True primary ciliary dyskinesia 9 primary ciliary dyskinesia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0012901 MONDO:0021181 True inherited prekallikrein deficiency inherited blood coagulation disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012902 MONDO:0019587 True autosomal dominant nonsyndromic hearing loss 27 autosomal dominant nonsyndromic hearing loss UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0012903 MONDO:0019588 True autosomal recessive nonsyndromic hearing loss 45 hearing loss, autosomal recessive UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0012904 MONDO:0020074 True epilepsy, progressive myoclonic, 1B progressive myoclonus epilepsy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0012905 MONDO:0019046 True hypomyelinating leukodystrophy 6 leukodystrophy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0012906 MONDO:0016575 True primary ciliary dyskinesia 9 primary ciliary dyskinesia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0012907 MONDO:0019755 True blindness - scoliosis - arachnodactyly syndrome developmental defect during embryogenesis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012911 MONDO:0019695 True pseudohypoparathyroidism type 1C acromelic dysplasia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012911 MONDO:0019992 True pseudohypoparathyroidism type 1C pseudohypoparathyroidism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012912 MONDO:0019695 True pseudopseudohypoparathyroidism acromelic dysplasia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012912 MONDO:0019992 True pseudopseudohypoparathyroidism pseudohypoparathyroidism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0012914 MONDO:0022756 True chromosome 1q21.1 deletion syndrome chromosome 1q deletion UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012915 MONDO:0016952 True chromosome 1q21.1 duplication syndrome partial duplication of the long arm of chromosome 1 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012916 MONDO:0016884 True chromosome 2p16.1-p15 deletion syndrome partial deletion of the short arm of chromosome 2 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012917 MONDO:0000724 True specific language impairment 4 specific language impairment UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0012918 MONDO:0016575 True primary ciliary dyskinesia 10 primary ciliary dyskinesia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0012918 MONDO:0016575 True primary ciliary dyskinesia 10 primary ciliary dyskinesia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED MONDO:0012922 MONDO:0100239 True pyloric stenosis, infantile hypertrophic, 5 inherited hypertrophic pyloric stenosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0012923 MONDO:0006536 True congenital generalized lipodystrophy type 3 congenital generalized lipodystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0012924 MONDO:0015253 True Diamond-Blackfan anemia 4 Diamond-Blackfan anemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0012925 MONDO:0015253 True Diamond-Blackfan anemia 5 Diamond-Blackfan anemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0012923 MONDO:0006536 True congenital generalized lipodystrophy type 3 congenital generalized lipodystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0012924 MONDO:0015253 True Diamond-Blackfan anemia 4 Diamond-Blackfan anemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0012925 MONDO:0015253 True Diamond-Blackfan anemia 5 Diamond-Blackfan anemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED MONDO:0012927 MONDO:0016296 True chromosome 1q41-q42 deletion syndrome holoprosencephaly UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0012927 MONDO:0022756 True chromosome 1q41-q42 deletion syndrome chromosome 1q deletion UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012928 MONDO:0015149 True hereditary spastic paraplegia 42 pure hereditary spastic paraplegia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012929 MONDO:0019952 True Compton-North congenital myopathy congenital myopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0012930 MONDO:0028226 True autosomal recessive severe congenital neutropenia due to G6PC3 deficiency autosomal recessive severe congenital neutropenia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012932 MONDO:0001384 True myopia 16, autosomal dominant myopia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0012933 MONDO:0100526 True breast-ovarian cancer, familial, susceptibility to, 2 breast-ovarian cancer, familial, susceptibility to UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0012937 MONDO:0015253 True Diamond-Blackfan anemia 6 Diamond-Blackfan anemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0012938 MONDO:0015253 True Diamond-Blackfan anemia 7 Diamond-Blackfan anemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0012939 MONDO:0015253 True Diamond-Blackfan anemia 8 Diamond-Blackfan anemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0012940 MONDO:0005265 True inflammatory bowel disease 24 inflammatory bowel disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0012943 MONDO:0019200 True retinitis pigmentosa 46 retinitis pigmentosa UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0012937 MONDO:0015253 True Diamond-Blackfan anemia 6 Diamond-Blackfan anemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0012938 MONDO:0015253 True Diamond-Blackfan anemia 7 Diamond-Blackfan anemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0012939 MONDO:0015253 True Diamond-Blackfan anemia 8 Diamond-Blackfan anemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0012940 MONDO:0005265 True inflammatory bowel disease 24 inflammatory bowel disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0012943 MONDO:0019200 True retinitis pigmentosa 46 retinitis pigmentosa UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED MONDO:0012945 MONDO:0005144 True amyotrophic lateral sclerosis type 11 familial amyotrophic lateral sclerosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0012946 MONDO:0100172 True intellectual disability, autosomal dominant 3 intellectual disability, autosomal dominant UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0012947 MONDO:0100172 True intellectual disability, autosomal dominant 4 intellectual disability, autosomal dominant UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0012949 MONDO:0016483 True aneurysm, intracranial berry, 9 intracranial berry aneurysm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0012950 MONDO:0016483 True aneurysm, intracranial berry, 10 intracranial berry aneurysm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0012948 MONDO:0015159 True chromosome 6pter-p24 deletion syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012948 MONDO:0016888 True chromosome 6pter-p24 deletion syndrome partial deletion of the short arm of chromosome 6 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012949 MONDO:0016483 True aneurysm, intracranial berry, 9 intracranial berry aneurysm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0012950 MONDO:0016483 True aneurysm, intracranial berry, 10 intracranial berry aneurysm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED MONDO:0012956 MONDO:0007462 True multiple sclerosis, susceptibility to, 2 multiple sclerosis, susceptibility to UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0012957 MONDO:0007462 True multiple sclerosis, susceptibility to, 3 multiple sclerosis, susceptibility to UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0012958 MONDO:0007462 True multiple sclerosis, susceptibility to, 4 multiple sclerosis, susceptibility to UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0012960 MONDO:0100172 True intellectual disability, autosomal dominant 5 intellectual disability, autosomal dominant UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0012962 MONDO:0000065 True microvascular complications of diabetes, susceptibility to, 2 microvascular complications of diabetes, susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0012963 MONDO:0000065 True microvascular complications of diabetes, susceptibility to, 3 microvascular complications of diabetes, susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0012965 MONDO:0017615 True seizures, benign familial infantile, 4 benign familial infantile epilepsy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0012964 MONDO:0016913 True chromosome 15q26-qter deletion syndrome partial deletion of the long arm of chromosome 15 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012965 MONDO:0017615 True seizures, benign familial infantile, 4 benign familial infantile epilepsy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED MONDO:0012966 MONDO:0000065 True microvascular complications of diabetes, susceptibility to, 4 microvascular complications of diabetes, susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0012968 MONDO:0010168 True Usher syndrome type 1H Usher syndrome type 1 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0012969 MONDO:0000065 True microvascular complications of diabetes, susceptibility to, 5 microvascular complications of diabetes, susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0012970 MONDO:0000065 True microvascular complications of diabetes, susceptibility to, 6 microvascular complications of diabetes, susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0012971 MONDO:0000065 True microvascular complications of diabetes, susceptibility to, 7 microvascular complications of diabetes, susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0012972 MONDO:0000032 True febrile seizures, familial, 10 febrile seizures, familial UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0012973 MONDO:0005265 True inflammatory bowel disease 26 inflammatory bowel disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0012974 MONDO:0019587 True autosomal dominant nonsyndromic hearing loss 59 autosomal dominant nonsyndromic hearing loss UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0012975 MONDO:0019587 True autosomal dominant nonsyndromic hearing loss 3B autosomal dominant nonsyndromic hearing loss UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0012976 MONDO:0019587 True autosomal dominant nonsyndromic hearing loss 2B autosomal dominant nonsyndromic hearing loss UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0012977 MONDO:0019588 True autosomal recessive nonsyndromic hearing loss 1B hearing loss, autosomal recessive UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0012978 MONDO:0016575 True primary ciliary dyskinesia 11 primary ciliary dyskinesia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0012979 MONDO:0016575 True primary ciliary dyskinesia 12 primary ciliary dyskinesia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0012982 MONDO:0016227 True episodic ataxia type 6 hereditary episodic ataxia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0012983 MONDO:0015993 True cone-rod dystrophy 12 cone-rod dystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0012989 MONDO:0016660 True microcephaly 7, primary, autosomal recessive autosomal recessive primary microcephaly UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0012990 MONDO:0018998 True Leber congenital amaurosis 13 Leber congenital amaurosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0012972 MONDO:0000032 True febrile seizures, familial, 10 febrile seizures, familial UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0012973 MONDO:0005265 True inflammatory bowel disease 26 inflammatory bowel disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0012974 MONDO:0019587 True autosomal dominant nonsyndromic hearing loss 59 autosomal dominant nonsyndromic hearing loss UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0012975 MONDO:0019587 True autosomal dominant nonsyndromic hearing loss 3B autosomal dominant nonsyndromic hearing loss UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0012976 MONDO:0019587 True autosomal dominant nonsyndromic hearing loss 2B autosomal dominant nonsyndromic hearing loss UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0012977 MONDO:0019588 True autosomal recessive nonsyndromic hearing loss 1B hearing loss, autosomal recessive UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0012978 MONDO:0016575 True primary ciliary dyskinesia 11 primary ciliary dyskinesia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0012979 MONDO:0016575 True primary ciliary dyskinesia 12 primary ciliary dyskinesia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0012980 MONDO:0003847 True endocrine-cerebro-osteodysplasia syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0012980 MONDO:0043009 True endocrine-cerebro-osteodysplasia syndrome hereditary lethal multiple congenital anomalies/dysmorphic syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012981 MONDO:0019350 True hereditary spherocytosis type 4 hereditary spherocytosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0012982 MONDO:0016227 True episodic ataxia type 6 hereditary episodic ataxia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0012983 MONDO:0015993 True cone-rod dystrophy 12 cone-rod dystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0012984 MONDO:0006025 True PHARC syndrome autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0012984 MONDO:0018117 True PHARC syndrome disorder of phospholipids, sphingolipids and fatty acids biosynthesis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012984 MONDO:0020127 True PHARC syndrome hereditary peripheral neuropathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012985 MONDO:0019350 True hereditary spherocytosis type 5 hereditary spherocytosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0012986 MONDO:0003847 True bilateral parasagittal parieto-occipital polymicrogyria hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0012986 MONDO:0017091 True bilateral parasagittal parieto-occipital polymicrogyria bilateral polymicrogyria UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012989 MONDO:0016660 True microcephaly 7, primary, autosomal recessive autosomal recessive primary microcephaly UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0012990 MONDO:0018998 True Leber congenital amaurosis 13 Leber congenital amaurosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0012991 MONDO:0006025 True Kahrizi syndrome autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0012992 MONDO:0016387 True pancreatic insufficiency-anemia-hyperostosis syndrome mitochondrial oxidative phosphorylation disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012993 MONDO:0000736 True dyschromatosis universalis hereditaria 2 dyschromatosis universalis hereditaria UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0012994 MONDO:0016812 True dopa-responsive dystonia due to sepiapterin reductase deficiency dopa-responsive dystonia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012994 MONDO:0044807 True dopa-responsive dystonia due to sepiapterin reductase deficiency inherited dystonia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0012995 MONDO:0001384 True myopia 15, autosomal dominant myopia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0012996 MONDO:0000456 True AGAT deficiency cerebral creatine deficiency syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0012999 MONDO:0000456 True guanidinoacetate methyltransferase deficiency cerebral creatine deficiency syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0013002 MONDO:0015993 True cone-rod dystrophy 9 cone-rod dystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0013006 MONDO:0000050 True isolated growth hormone deficiency type IB isolated congenital growth hormone deficiency UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0013010 MONDO:0019588 True autosomal recessive nonsyndromic hearing loss 71 hearing loss, autosomal recessive UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0013011 MONDO:0006664 True atrial septal defect 5 atrial septal defect UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0013012 MONDO:0005265 True inflammatory bowel disease 27 inflammatory bowel disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0013015 MONDO:0015263 True Brugada syndrome 5 Brugada syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0013021 MONDO:0019751 True sterile multifocal osteomyelitis with periostitis and pustulosis autoinflammatory syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012996 MONDO:0000456 True AGAT deficiency cerebral creatine deficiency syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0012999 MONDO:0000456 True guanidinoacetate methyltransferase deficiency cerebral creatine deficiency syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0013000 MONDO:0002520 True porphyria due to ALA dehydratase deficiency hepatic porphyria UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0013000 MONDO:0019142 True porphyria due to ALA dehydratase deficiency inherited porphyria UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0013002 MONDO:0015993 True cone-rod dystrophy 9 cone-rod dystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0013005 MONDO:0015962 True EAST syndrome inherited renal tubular disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0013005 MONDO:0100309 True EAST syndrome hereditary ataxia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0013006 MONDO:0000050 True isolated growth hormone deficiency type IB isolated congenital growth hormone deficiency UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0013007 MONDO:0015695 True combined immunodeficiency due to ORAI1 deficiency combined immunodeficiency due to CRAC channel dysfunction UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0013008 MONDO:0015695 True combined immunodeficiency due to STIM1 deficiency combined immunodeficiency due to CRAC channel dysfunction UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0013010 MONDO:0019588 True autosomal recessive nonsyndromic hearing loss 71 hearing loss, autosomal recessive UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0013011 MONDO:0006664 True atrial septal defect 5 atrial septal defect UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0013012 MONDO:0005265 True inflammatory bowel disease 27 inflammatory bowel disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0013015 MONDO:0015263 True Brugada syndrome 5 Brugada syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0013016 MONDO:0017570 True leukocyte adhesion deficiency 3 leukocyte adhesion deficiency UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0013018 MONDO:0000136 True keratosis follicularis spinulosa decalvans, autosomal dominant keratosis follicularis spinulosa decalvans UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0013021 MONDO:0019751 True sterile multifocal osteomyelitis with periostitis and pustulosis autoinflammatory syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013022 MONDO:0100170 True restless legs syndrome, susceptibility to, 7 restless legs syndrome, susceptibility to UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0013023 MONDO:0000358 True orofacial cleft 12 orofacial cleft UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0013029 MONDO:0020380 True cerebellar ataxia type 9 autosomal dominant cerebellar ataxia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0013023 MONDO:0000358 True orofacial cleft 12 orofacial cleft UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0013025 MONDO:0016905 True chromosome 6q24-q25 deletion syndrome partial deletion of the long arm of chromosome 6 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0013026 MONDO:0000763 True subepithelial mucinous corneal dystrophy epithelial and subepithelial corneal dystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0013026 MONDO:0020212 True subepithelial mucinous corneal dystrophy superficial corneal dystrophy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0013027 MONDO:0020213 True posterior amorphous corneal dystrophy stromal corneal dystrophy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0013028 MONDO:0009637 True adenosine monophosphate deaminase deficiency inborn mitochondrial myopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0013028 MONDO:0019236 True adenosine monophosphate deaminase deficiency inborn disorder of purine metabolism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0013029 MONDO:0020380 True cerebellar ataxia type 9 autosomal dominant cerebellar ataxia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED MONDO:0013030 MONDO:0016333 True dilated cardiomyopathy 1BB familial dilated cardiomyopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0013031 MONDO:0020341 True chromosome 5Q14.3 deletion syndrome, distal periventricular nodular heterotopia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0013033 MONDO:0016215 True cerebral palsy, spastic quadriplegic, 2 spastic quadriplegic cerebral palsy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0013035 MONDO:0015375 True orofaciodigital syndrome XI orofaciodigital syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0013033 MONDO:0016215 True cerebral palsy, spastic quadriplegic, 2 spastic quadriplegic cerebral palsy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0013034 MONDO:0018865 True keratosis palmoplantaris striata 2 striate palmoplantar keratoderma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0013035 MONDO:0015375 True orofaciodigital syndrome XI orofaciodigital syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0013036 MONDO:0015159 True Zechi-Ceide syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0013038 MONDO:0019296 True CLOVES syndrome subcutaneous tissue disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013039 MONDO:0007477 True 3M syndrome 2 3-M syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0013048 MONDO:0019064 True hereditary spastic paraplegia 50 hereditary spastic paraplegia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0013046 MONDO:0002412 True glycogen storage disease due to muscle beta-enolase deficiency disorder of glycogen metabolism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0013047 MONDO:0002412 True glycogen storage disease due to lactate dehydrogenase M-subunit deficiency disorder of glycogen metabolism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0013048 MONDO:0019064 True hereditary spastic paraplegia 50 hereditary spastic paraplegia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED MONDO:0013049 MONDO:0005500 True DPM3-congenital disorder of glycosylation congenital disorder of glycosylation type I UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0013052 MONDO:0019200 True retinitis pigmentosa 42 retinitis pigmentosa UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0013049 MONDO:0017749 True DPM3-congenital disorder of glycosylation disorder of multiple glycosylation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0013049 MONDO:0018276 True DPM3-congenital disorder of glycosylation muscular dystrophy-dystroglycanopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0013050 MONDO:0043009 True lethal polymalformative syndrome, Boissel type hereditary lethal multiple congenital anomalies/dysmorphic syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0013051 MONDO:0019573 True autosomal recessive cutis laxa type 2B autosomal recessive cutis laxa type 2 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0013052 MONDO:0019200 True retinitis pigmentosa 42 retinitis pigmentosa UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0013053 MONDO:0015161 True microcephaly-facio-cardio-skeletal syndrome, Hadziselimovic type multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0013056 MONDO:0016801 True developmental and epileptic encephalopathy, 39 mitochondrial substrate carrier disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0013058 MONDO:0019046 True cystic leukoencephalopathy without megalencephaly leukodystrophy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED MONDO:0013059 MONDO:0018866 True Aicardi-Goutieres syndrome 5 Aicardi-Goutieres syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0013061 MONDO:0018943 True myofibrillar myopathy 6 myofibrillar myopathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0013060 MONDO:0008199 True autosomal recessive Parkinson disease 14 late-onset Parkinson disease UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED +MONDO:0013060 MONDO:0017998 True autosomal recessive Parkinson disease 14 PLA2G6-associated neurodegeneration UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0013061 MONDO:0018943 True myofibrillar myopathy 6 myofibrillar myopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED MONDO:0013062 MONDO:0019171 True long QT syndrome 12 familial long QT syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0013064 MONDO:0017923 True multiple synostoses syndrome 3 multiple synostoses syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0013064 MONDO:0017923 True multiple synostoses syndrome 3 multiple synostoses syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED MONDO:0013065 MONDO:0019852 True premature ovarian failure 7 inherited primary ovarian failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0013066 MONDO:0010765 True 46,XY sex reversal 3 46,XY complete gonadal dysgenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0013067 MONDO:0005129 True cataract 34 multiple types cataract UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0013066 MONDO:0010765 True 46,XY sex reversal 3 46,XY complete gonadal dysgenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0013067 MONDO:0005129 True cataract 34 multiple types cataract UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0013069 MONDO:0016387 True autosomal recessive optic atrophy, OPA7 type mitochondrial oxidative phosphorylation disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013069 MONDO:0043878 True autosomal recessive optic atrophy, OPA7 type hereditary optic atrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0013070 MONDO:0004983 True spermatogenic failure 7 spermatogenic failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0013070 MONDO:0004983 True spermatogenic failure 7 spermatogenic failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED MONDO:0013074 MONDO:0006574 True encephalocraniocutaneous lipomatosis lipomatosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013079 MONDO:0005388 True primary biliary cholangitis 2 primary biliary cholangitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0013080 MONDO:0005388 True primary biliary cholangitis 3 primary biliary cholangitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0013081 MONDO:0016537 True lymphoproliferative syndrome 1 lymphoproliferative syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0013081 MONDO:0021094 True lymphoproliferative syndrome 1 immunodeficiency disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0013074 MONDO:0019296 True encephalocraniocutaneous lipomatosis subcutaneous tissue disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0013079 MONDO:0005388 True primary biliary cholangitis 2 primary biliary cholangitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0013080 MONDO:0005388 True primary biliary cholangitis 3 primary biliary cholangitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0013081 MONDO:0016537 True lymphoproliferative syndrome 1 lymphoproliferative syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0013090 MONDO:0015159 True chromosome 19q13.11 deletion syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0013090 MONDO:0016917 True chromosome 19q13.11 deletion syndrome partial deletion of the long arm of chromosome 19 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013092 MONDO:0100242 True glioma susceptibility 2 glioma susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0013093 MONDO:0100242 True glioma susceptibility 3 glioma susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0013094 MONDO:0100242 True glioma susceptibility 5 glioma susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0013095 MONDO:0100242 True glioma susceptibility 6 glioma susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0013096 MONDO:0100242 True glioma susceptibility 7 glioma susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0013097 MONDO:0100242 True glioma susceptibility 8 glioma susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0013098 MONDO:0005365 True noise induced hearing loss hearing loss disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0013099 MONDO:0015770 True combined pituitary hormone deficiencies, genetic form congenital hypogonadotropic hypogonadism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013100 MONDO:0018054 True atrial fibrillation, familial, 8 familial atrial fibrillation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0013114 MONDO:0019587 True autosomal dominant nonsyndromic hearing loss 50 autosomal dominant nonsyndromic hearing loss UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0013118 MONDO:0021190 True Nijmegen breakage syndrome-like disorder DNA repair disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013119 MONDO:0019588 True autosomal recessive nonsyndromic hearing loss 77 hearing loss, autosomal recessive UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0013120 MONDO:0010765 True 46,XY sex reversal 5 46,XY complete gonadal dysgenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0013123 MONDO:0006664 True atrial septal defect 6 atrial septal defect UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0013127 MONDO:0018770 True asphyxiating thoracic dystrophy 3 Jeune syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0013110 MONDO:0005528 True neurodegenerative syndrome due to cerebral folate transport deficiency inborn vitamin metabolic disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0013110 MONDO:0017313 True neurodegenerative syndrome due to cerebral folate transport deficiency disorder of folate metabolism and transport UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0013110 MONDO:0024237 True neurodegenerative syndrome due to cerebral folate transport deficiency inherited neurodegenerative disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0013111 MONDO:0016387 True acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins mitochondrial oxidative phosphorylation disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0013114 MONDO:0019587 True autosomal dominant nonsyndromic hearing loss 50 autosomal dominant nonsyndromic hearing loss UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0013116 MONDO:0009637 True congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome inborn mitochondrial myopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0013116 MONDO:0016387 True congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome mitochondrial oxidative phosphorylation disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0013118 MONDO:0015161 True Nijmegen breakage syndrome-like disorder multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0013119 MONDO:0019588 True autosomal recessive nonsyndromic hearing loss 77 hearing loss, autosomal recessive UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0013120 MONDO:0010765 True 46,XY sex reversal 5 46,XY complete gonadal dysgenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0013123 MONDO:0006664 True atrial septal defect 6 atrial septal defect UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0013125 MONDO:0019716 True CLAPO syndrome overgrowth syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0013127 MONDO:0018770 True asphyxiating thoracic dystrophy 3 Jeune syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED MONDO:0013128 MONDO:0000608 True familial juvenile hyperuricemic nephropathy type 2 familial juvenile hyperuricemic nephropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0013130 MONDO:0000062 True isolated microphthalmia 4 isolated microphthalmia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0013131 MONDO:0004691 True polycystic kidney disease 2 autosomal dominant polycystic kidney disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0013128 MONDO:0015962 True familial juvenile hyperuricemic nephropathy type 2 inherited renal tubular disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0013130 MONDO:0000062 True isolated microphthalmia 4 isolated microphthalmia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0013131 MONDO:0004691 True polycystic kidney disease 2 autosomal dominant polycystic kidney disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0013132 MONDO:0015087 True hereditary spastic paraplegia 36 autosomal dominant complex spastic paraplegia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013133 MONDO:0024462 True melanoma, cutaneous malignant, susceptibility to, 5 susceptibility to familial cutaneous melanoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0013135 MONDO:0015541 True familial hemophagocytic lymphohistiocytosis 5 hereditary hemophagocytic lymphohistiocytosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0013136 MONDO:0004907 True hereditary hypotrichosis with recurrent skin vesicles alopecia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013137 MONDO:0008982 True choroidal dystrophy, central areolar 2 central areolar choroidal dystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0013139 MONDO:0008742 True neutropenia, severe congenital, 2, autosomal dominant autosomal dominant severe congenital neutropenia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0013140 MONDO:0015279 True candidiasis, familial, 4 chronic mucocutaneous candidiasis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0013142 MONDO:0019941 True neuropathy, hereditary sensory and autonomic, type 2B hereditary sensory and autonomic neuropathy type 2 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0013143 MONDO:0018374 True hereditary thrombophilia due to congenital histidine-rich (poly-L) glycoprotein deficiency secondary avascular necrosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0013143 MONDO:0018383 True hereditary thrombophilia due to congenital histidine-rich (poly-L) glycoprotein deficiency osteonecrosis of genetic origin UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013143 MONDO:0100240 True hereditary thrombophilia due to congenital histidine-rich (poly-L) glycoprotein deficiency inherited thrombophilia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0013144 MONDO:0018374 True hereditary antithrombin deficiency secondary avascular necrosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0013144 MONDO:0018383 True hereditary antithrombin deficiency osteonecrosis of genetic origin UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013144 MONDO:0100240 True hereditary antithrombin deficiency inherited thrombophilia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0013145 MONDO:0015263 True Brugada syndrome 6 Brugada syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0013146 MONDO:0015263 True Brugada syndrome 7 Brugada syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0013145 MONDO:0015263 True Brugada syndrome 6 Brugada syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0013146 MONDO:0015263 True Brugada syndrome 7 Brugada syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED MONDO:0013147 MONDO:0016333 True dilated cardiomyopathy 1CC familial dilated cardiomyopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0013148 MONDO:0015263 True Brugada syndrome 8 Brugada syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0013148 MONDO:0015263 True Brugada syndrome 8 Brugada syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0013150 MONDO:0020065 True parkinsonism-dystonia, infantile combined dystonia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013151 MONDO:0008982 True choroidal dystrophy, central areolar, 3 central areolar choroidal dystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0013154 MONDO:0000171 True muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 muscular dystrophy-dystroglycanopathy, type A UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0013155 MONDO:0000172 True muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 muscular dystrophy-dystroglycanopathy, type B UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0013156 MONDO:0000172 True muscular dystrophy-dystroglycanopathy (congenital without intellectual disability), type B4 muscular dystrophy-dystroglycanopathy, type B UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0013155 MONDO:0000172 True muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 muscular dystrophy-dystroglycanopathy, type B UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0013156 MONDO:0000172 True muscular dystrophy-dystroglycanopathy (congenital without intellectual disability), type B4 muscular dystrophy-dystroglycanopathy, type B UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED MONDO:0013157 MONDO:0000171 True muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5 muscular dystrophy-dystroglycanopathy, type A UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS MONDO:0013158 MONDO:0000171 True muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A6 muscular dystrophy-dystroglycanopathy, type A UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0013159 MONDO:0000172 True muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1 muscular dystrophy-dystroglycanopathy, type B UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0013160 MONDO:0000172 True muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2 muscular dystrophy-dystroglycanopathy, type B UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0013159 MONDO:0000172 True muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1 muscular dystrophy-dystroglycanopathy, type B UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0013160 MONDO:0000172 True muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2 muscular dystrophy-dystroglycanopathy, type B UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED MONDO:0013161 MONDO:0000173 True autosomal recessive limb-girdle muscular dystrophy type 2O muscular dystrophy-dystroglycanopathy, type C UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0013161 MONDO:0015152 True autosomal recessive limb-girdle muscular dystrophy type 2O autosomal recessive limb-girdle muscular dystrophy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0013161 MONDO:0015152 True autosomal recessive limb-girdle muscular dystrophy type 2O autosomal recessive limb-girdle muscular dystrophy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED MONDO:0013162 MONDO:0000173 True autosomal recessive limb-girdle muscular dystrophy type 2N muscular dystrophy-dystroglycanopathy, type C UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0013162 MONDO:0015152 True autosomal recessive limb-girdle muscular dystrophy type 2N autosomal recessive limb-girdle muscular dystrophy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0013163 MONDO:0019005 True nephronophthisis-like nephropathy 1 nephronophthisis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0013162 MONDO:0015152 True autosomal recessive limb-girdle muscular dystrophy type 2N autosomal recessive limb-girdle muscular dystrophy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0013162 MONDO:0016185 True autosomal recessive limb-girdle muscular dystrophy type 2N qualitative or quantitative defects of protein O-mannosyltransferase 2 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0013163 MONDO:0019005 True nephronophthisis-like nephropathy 1 nephronophthisis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0013164 MONDO:0019238 True beta-ureidopropionase deficiency inborn disorder of pyrimidine metabolism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0013166 MONDO:0000698 True GABA aminotransaminase deficiency gamma-amino butyric acid metabolism disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0013166 MONDO:0017684 True GABA aminotransaminase deficiency disorder of beta and omega amino acid metabolism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013167 MONDO:0005180 True parkinson disease 16 Parkinson disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0013168 MONDO:0016333 True dilated cardiomyopathy 1DD familial dilated cardiomyopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0013169 MONDO:0015159 True chromosome 5p13 duplication syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0013169 MONDO:0016942 True chromosome 5p13 duplication syndrome partial trisomy/tetrasomy of the short arm of chromosome 5 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0013170 MONDO:0006025 True cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0013170 MONDO:0100237 True cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies inherited cutis laxa UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0013173 MONDO:0019502 True intellectual disability, autosomal recessive 13 autosomal recessive non-syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0013174 MONDO:0016575 True primary ciliary dyskinesia 13 primary ciliary dyskinesia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0013175 MONDO:0019200 True retinitis pigmentosa 50 retinitis pigmentosa UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0013171 MONDO:0019236 True purine nucleoside phosphorylase deficiency inborn disorder of purine metabolism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0013173 MONDO:0019502 True intellectual disability, autosomal recessive 13 autosomal recessive non-syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0013174 MONDO:0016575 True primary ciliary dyskinesia 13 primary ciliary dyskinesia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0013175 MONDO:0019200 True retinitis pigmentosa 50 retinitis pigmentosa UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED MONDO:0013176 MONDO:0018096 True Weill-Marchesani 4 syndrome, recessive Weill-Marchesani syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0013183 MONDO:0016293 True congenital stationary night blindness 1C congenital stationary night blindness UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0013186 MONDO:0018997 True Noonan syndrome 6 Noonan syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0013177 MONDO:0019950 True congenital muscular dystrophy due to integrin alpha-7 deficiency congenital muscular dystrophy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0013178 MONDO:0019950 True congenital muscular dystrophy due to LMNA mutation congenital muscular dystrophy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0013179 MONDO:0015150 True hereditary spastic paraplegia 44 complex hereditary spastic paraplegia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0013182 MONDO:0015159 True chromosome 17p13.3 duplication syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0013182 MONDO:0016950 True chromosome 17p13.3 duplication syndrome partial duplication of the short arm of chromosome 17 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0013183 MONDO:0016293 True congenital stationary night blindness 1C congenital stationary night blindness UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0013186 MONDO:0018997 True Noonan syndrome 6 Noonan syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED MONDO:0013188 MONDO:0009133 True cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 3 cerebellar ataxia, intellectual disability, and dysequilibrium UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0013189 MONDO:0001162 True trichotillomania impulse control disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0013189 MONDO:0001162 True trichotillomania impulse control disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0013191 MONDO:0005363 True focal segmental glomerulosclerosis 5 inherited focal segmental glomerulosclerosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0013192 MONDO:0024512 True spondyloarthropathy, susceptibility to, 3 spondyloarthropathy, susceptibility to UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0013195 MONDO:0024573 True hypertrophic cardiomyopathy 13 familial hypertrophic cardiomyopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0013195 MONDO:0024573 True hypertrophic cardiomyopathy 13 familial hypertrophic cardiomyopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED MONDO:0013196 MONDO:0018630 True Lynch syndrome 8 hereditary nonpolyposis colon cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0013197 MONDO:0024573 True hypertrophic cardiomyopathy 14 familial hypertrophic cardiomyopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0013197 MONDO:0024573 True hypertrophic cardiomyopathy 14 familial hypertrophic cardiomyopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED MONDO:0013198 MONDO:0016333 True dilated cardiomyopathy 1EE familial dilated cardiomyopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0013199 MONDO:0001734 True tuberous sclerosis 2 tuberous sclerosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0013200 MONDO:0024573 True hypertrophic cardiomyopathy 15 familial hypertrophic cardiomyopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0013199 MONDO:0001734 True tuberous sclerosis 2 tuberous sclerosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0013200 MONDO:0024573 True hypertrophic cardiomyopathy 15 familial hypertrophic cardiomyopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED MONDO:0013203 MONDO:0005321 True corneal dystrophy, Fuchs endothelial, 3 Fuchs' endothelial dystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0013204 MONDO:0005321 True corneal dystrophy, Fuchs endothelial, 4 Fuchs' endothelial dystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0013205 MONDO:0005321 True corneal dystrophy, fuchs endothelial, 5 Fuchs' endothelial dystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0013206 MONDO:0005321 True corneal dystrophy, Fuchs endothelial, 6 Fuchs' endothelial dystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0013207 MONDO:0005321 True corneal dystrophy, fuchs endothelial, 7 Fuchs' endothelial dystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0013208 MONDO:0000214 True cirrhosis - dystonia - polycythemia - hypermanganesemia syndrome hypermanganesemia with dystonia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0013210 MONDO:0019588 True autosomal recessive nonsyndromic hearing loss 25 hearing loss, autosomal recessive UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0013208 MONDO:0000214 True cirrhosis - dystonia - polycythemia - hypermanganesemia syndrome hypermanganesemia with dystonia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0013208 MONDO:0017766 True cirrhosis - dystonia - polycythemia - hypermanganesemia syndrome disorder of manganese transport UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0013209 MONDO:0004790 True metabolic dysfunction-associated steatotic liver disease fatty liver disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0013210 MONDO:0019588 True autosomal recessive nonsyndromic hearing loss 25 hearing loss, autosomal recessive UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED MONDO:0013211 MONDO:0016333 True dilated cardiomyopathy 1FF familial dilated cardiomyopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0013215 MONDO:0019588 True autosomal recessive nonsyndromic hearing loss 79 hearing loss, autosomal recessive UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0013216 MONDO:0015253 True Diamond-Blackfan anemia 9 Diamond-Blackfan anemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0013217 MONDO:0015253 True Diamond-Blackfan anemia 10 Diamond-Blackfan anemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0013221 MONDO:0009685 True Miyoshi muscular dystrophy 2 Miyoshi myopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0013222 MONDO:0009685 True Miyoshi muscular dystrophy 3 Miyoshi myopathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0013223 MONDO:0016763 True autosomal recessive spondylometaphyseal dysplasia, Megarbane type spondylometaphyseal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0013224 MONDO:0016473 True rhabdoid tumor predisposition syndrome 2 familial rhabdoid tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0013225 MONDO:0006536 True congenital generalized lipodystrophy type 4 congenital generalized lipodystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0013230 MONDO:0013229 True epilepsy, hot water, 2 hot water reflex epilepsy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0013231 MONDO:0018998 True Leber congenital amaurosis 14 Leber congenital amaurosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0013248 MONDO:0019391 True Fanconi anemia complementation group O Fanconi anemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0013249 MONDO:0019588 True autosomal recessive nonsyndromic hearing loss 84A hearing loss, autosomal recessive UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0013250 MONDO:0019588 True autosomal recessive nonsyndromic hearing loss 85 hearing loss, autosomal recessive UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0013252 MONDO:0003847 True Warsaw breakage syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0013212 MONDO:0018993 True Charcot-Marie-Tooth disease axonal type 2N Charcot-Marie-Tooth disease type 2 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0013215 MONDO:0019588 True autosomal recessive nonsyndromic hearing loss 79 hearing loss, autosomal recessive UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0013216 MONDO:0015253 True Diamond-Blackfan anemia 9 Diamond-Blackfan anemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0013217 MONDO:0015253 True Diamond-Blackfan anemia 10 Diamond-Blackfan anemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0013220 MONDO:0019257 True hemochromatosis type 2B hemochromatosis type 2 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0013221 MONDO:0009685 True Miyoshi muscular dystrophy 2 Miyoshi myopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0013222 MONDO:0009685 True Miyoshi muscular dystrophy 3 Miyoshi myopathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0013223 MONDO:0016763 True autosomal recessive spondylometaphyseal dysplasia, Megarbane type spondylometaphyseal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0013224 MONDO:0016473 True rhabdoid tumor predisposition syndrome 2 familial rhabdoid tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0013225 MONDO:0006536 True congenital generalized lipodystrophy type 4 congenital generalized lipodystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0013226 MONDO:0003778 True combined immunodeficiency with faciooculoskeletal anomalies inborn error of immunity UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0013227 MONDO:0021181 True congenital plasminogen activator inhibitor type 1 deficiency inherited blood coagulation disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0013230 MONDO:0013229 True epilepsy, hot water, 2 hot water reflex epilepsy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0013231 MONDO:0018998 True Leber congenital amaurosis 14 Leber congenital amaurosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0013238 MONDO:0016915 True chromosome 17q23.1-q23.2 deletion syndrome partial deletion of the long arm of chromosome 17 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0013239 MONDO:0015149 True hereditary spastic paraplegia 41 pure hereditary spastic paraplegia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0013240 MONDO:0018911 True maturity-onset diabetes of the young type 10 maturity-onset diabetes of the young UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED +MONDO:0013241 MONDO:0019793 True spinocerebellar ataxia type 30 autosomal dominant cerebellar ataxia type III UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0013242 MONDO:0018911 True maturity-onset diabetes of the young type 11 maturity-onset diabetes of the young UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED +MONDO:0013243 MONDO:0015352 True neuronopathy, distal hereditary motor, type 2C distal hereditary motor neuropathy type 2 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0013245 MONDO:0015159 True syndromic multisystem autoimmune disease due to ITCH deficiency multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0013248 MONDO:0019391 True Fanconi anemia complementation group O Fanconi anemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0013249 MONDO:0019588 True autosomal recessive nonsyndromic hearing loss 84A hearing loss, autosomal recessive UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0013250 MONDO:0019588 True autosomal recessive nonsyndromic hearing loss 85 hearing loss, autosomal recessive UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0013252 MONDO:0003847 True Warsaw breakage syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0013252 MONDO:0015161 True Warsaw breakage syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013253 MONDO:0100526 True breast-ovarian cancer, familial, susceptibility to, 3 breast-ovarian cancer, familial, susceptibility to UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0013254 MONDO:0100062 True microcephaly, seizures, and developmental delay developmental and epileptic encephalopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0013255 MONDO:0017123 True arthrogryposis, renal dysfunction, and cholestasis 2 arthrogryposis-renal dysfunction-cholestasis syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0013254 MONDO:0100062 True microcephaly, seizures, and developmental delay developmental and epileptic encephalopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0013255 MONDO:0017123 True arthrogryposis, renal dysfunction, and cholestasis 2 arthrogryposis-renal dysfunction-cholestasis syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0013256 MONDO:0003847 True chromosome 15q24 deletion syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0013256 MONDO:0015159 True chromosome 15q24 deletion syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0013256 MONDO:0016913 True chromosome 15q24 deletion syndrome partial deletion of the long arm of chromosome 15 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013258 MONDO:0020836 True autism, susceptibility to, 16 autism, susceptiblity to UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0013259 MONDO:0016293 True Oguchi disease-2 congenital stationary night blindness UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0013259 MONDO:0016293 True Oguchi disease-2 congenital stationary night blindness UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED MONDO:0013261 MONDO:0018901 True dilated cardiomyopathy 1R left ventricular noncompaction UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS MONDO:0013262 MONDO:0018901 True dilated cardiomyopathy 1S left ventricular noncompaction UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0013263 MONDO:0019200 True retinitis pigmentosa 54 retinitis pigmentosa UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0013263 MONDO:0019200 True retinitis pigmentosa 54 retinitis pigmentosa UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED MONDO:0013264 MONDO:0005144 True amyotrophic lateral sclerosis type 12 familial amyotrophic lateral sclerosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0013265 MONDO:0020836 True autism, susceptibility to, 17 autism, susceptiblity to UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0013268 MONDO:0016643 True frontonasal dysplasia with alopecia and genital anomaly frontonasal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0013269 MONDO:0019588 True autosomal recessive nonsyndromic hearing loss 91 hearing loss, autosomal recessive UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0013271 MONDO:0016643 True frontonasal dysplasia - severe microphthalmia - severe facial clefting syndrome frontonasal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0013274 MONDO:0019200 True retinitis pigmentosa 51 retinitis pigmentosa UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0013277 MONDO:0100062 True developmental and epileptic encephalopathy, 5 developmental and epileptic encephalopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0013278 MONDO:0019313 True lymphatic malformation 3 lymphatic malformation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0013266 MONDO:0015802 True intellectual disability, autosomal dominant 20 autosomal dominant non-syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0013267 MONDO:0016894 True distal 16p11.2 microdeletion syndrome partial deletion of the short arm of chromosome 16 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0013268 MONDO:0016643 True frontonasal dysplasia with alopecia and genital anomaly frontonasal dysplasia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0013269 MONDO:0019588 True autosomal recessive nonsyndromic hearing loss 91 hearing loss, autosomal recessive UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0013271 MONDO:0016643 True frontonasal dysplasia - severe microphthalmia - severe facial clefting syndrome frontonasal dysplasia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0013272 MONDO:0016912 True chromosome 14q11-q22 deletion syndrome partial deletion of the long arm of chromosome 14 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0013273 MONDO:0016949 True chromosome 16p13.3 duplication syndrome partial duplication of the short arm of chromosome 16 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0013274 MONDO:0019200 True retinitis pigmentosa 51 retinitis pigmentosa UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0013275 MONDO:0017688 True hemolytic anemia due to glucophosphate isomerase deficiency disorder of glycolysis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0013277 MONDO:0100062 True developmental and epileptic encephalopathy, 5 developmental and epileptic encephalopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0013278 MONDO:0019313 True lymphatic malformation 3 lymphatic malformation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED MONDO:0013279 MONDO:0019171 True long QT syndrome 13 familial long QT syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0013281 MONDO:0005501 True COG4-congenital disorder of glycosylation congenital disorder of glycosylation type II UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0013282 MONDO:0002254 True alpha 1-antitrypsin deficiency syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0013283 MONDO:0015517 True immunodeficiency, common variable, 3 common variable immunodeficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0013284 MONDO:0015517 True immunodeficiency, common variable, 4 common variable immunodeficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0013285 MONDO:0015517 True immunodeficiency, common variable, 5 common variable immunodeficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0013286 MONDO:0015517 True immunodeficiency, common variable, 6 common variable immunodeficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0013293 MONDO:0000062 True isolated microphthalmia 6 isolated microphthalmia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0013296 MONDO:0015688 True myeloid neoplasm associated with FGFR1 rearrangement myeloid/lymphoid neoplasms associated with eosinophilia and abnormality of PDGFRA, PDGFRB, FGFR1 or JAK2 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013297 MONDO:0015151 True autosomal dominant limb-girdle muscular dystrophy type 1H muscular dystrophy, limb-girdle, autosomal dominant UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0013302 MONDO:0019005 True nephronophthisis 11 nephronophthisis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0013305 MONDO:0019587 True autosomal dominant nonsyndromic hearing loss 51 autosomal dominant nonsyndromic hearing loss UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0013306 MONDO:0000732 True combined oxidative phosphorylation defect type 7 combined oxidative phosphorylation deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0013307 MONDO:0000863 True myopathy, lactic acidosis, and sideroblastic anemia 2 myopathy, lactic acidosis, and sideroblastic anemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0013310 MONDO:0018479 True congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency congenital adrenal hyperplasia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0013312 MONDO:0019200 True retinitis pigmentosa 55 retinitis pigmentosa UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0013281 MONDO:0005501 True COG4-congenital disorder of glycosylation congenital disorder of glycosylation type II UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0013281 MONDO:0017750 True COG4-congenital disorder of glycosylation defect in conserved oligomeric Golgi complex UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0013282 MONDO:0002273 True alpha 1-antitrypsin deficiency plasma protein metabolism disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0013283 MONDO:0015517 True immunodeficiency, common variable, 3 common variable immunodeficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0013284 MONDO:0015517 True immunodeficiency, common variable, 4 common variable immunodeficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0013285 MONDO:0015517 True immunodeficiency, common variable, 5 common variable immunodeficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0013286 MONDO:0015517 True immunodeficiency, common variable, 6 common variable immunodeficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0013292 MONDO:0016903 True chromosome 4q21 deletion syndrome partial deletion of the long arm of chromosome 4 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0013293 MONDO:0000062 True isolated microphthalmia 6 isolated microphthalmia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0013296 MONDO:0015688 True myeloid neoplasm associated with FGFR1 rearrangement myeloid/lymphoid neoplasms associated with eosinophilia and abnormality of PDGFRA, PDGFRB, FGFR1 or JAK2 UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0013297 MONDO:0015151 True autosomal dominant limb-girdle muscular dystrophy type 1H muscular dystrophy, limb-girdle, autosomal dominant UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0013298 MONDO:0015159 True chromosome 17q21.31 duplication syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0013298 MONDO:0016967 True chromosome 17q21.31 duplication syndrome partial duplication of the long arm of chromosome 17 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0013300 MONDO:0015411 True commissural facial cleft facial cleft UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0013301 MONDO:0019852 True aromatase deficiency inherited primary ovarian failure UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0013302 MONDO:0019005 True nephronophthisis 11 nephronophthisis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0013304 MONDO:0019565 True von Willebrand disease 2 hereditary von Willebrand disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0013305 MONDO:0019587 True autosomal dominant nonsyndromic hearing loss 51 autosomal dominant nonsyndromic hearing loss UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0013306 MONDO:0000732 True combined oxidative phosphorylation defect type 7 combined oxidative phosphorylation deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0013307 MONDO:0000863 True myopathy, lactic acidosis, and sideroblastic anemia 2 myopathy, lactic acidosis, and sideroblastic anemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0013308 MONDO:0021060 True CBL-related disorder RASopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0013310 MONDO:0018479 True congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency congenital adrenal hyperplasia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0013311 MONDO:0019287 True ectodermal dysplasia-syndactyly syndrome ectodermal dysplasia syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0013312 MONDO:0019200 True retinitis pigmentosa 55 retinitis pigmentosa UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED MONDO:0013313 MONDO:0013311 True ectodermal dysplasia-cutaneous syndactyly syndrome ectodermal dysplasia-syndactyly syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0013314 MONDO:0019200 True retinitis pigmentosa 56 retinitis pigmentosa UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0013315 MONDO:0019200 True retinitis pigmentosa 57 retinitis pigmentosa UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0013322 MONDO:0000160 True epilepsy, familial adult myoclonic, 3 epilepsy, familial adult myoclonic UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0013323 MONDO:0009032 True cranioectodermal dysplasia 2 cranioectodermal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0013325 MONDO:0005501 True COG5-congenital disorder of glycosylation congenital disorder of glycosylation type II UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0013314 MONDO:0019200 True retinitis pigmentosa 56 retinitis pigmentosa UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0013315 MONDO:0019200 True retinitis pigmentosa 57 retinitis pigmentosa UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0013316 MONDO:0003004 True occult macular dystrophy macular degeneration UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0013320 MONDO:0016894 True chromosome 16p12.2-p11.2 deletion syndrome partial deletion of the short arm of chromosome 16 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0013322 MONDO:0000160 True epilepsy, familial adult myoclonic, 3 epilepsy, familial adult myoclonic UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0013323 MONDO:0009032 True cranioectodermal dysplasia 2 cranioectodermal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0013324 MONDO:0002013 True lymphedema-posterior choanal atresia syndrome lymphangioma UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0013325 MONDO:0005501 True COG5-congenital disorder of glycosylation congenital disorder of glycosylation type II UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0013325 MONDO:0017750 True COG5-congenital disorder of glycosylation defect in conserved oligomeric Golgi complex UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013326 MONDO:0017842 True Senior-Loken syndrome 7 Senior-Loken syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0013327 MONDO:0002474 True primary hyperoxaluria type 3 primary hyperoxaluria UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0013328 MONDO:0019200 True retinitis pigmentosa 58 retinitis pigmentosa UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0013327 MONDO:0002474 True primary hyperoxaluria type 3 primary hyperoxaluria UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0013328 MONDO:0019200 True retinitis pigmentosa 58 retinitis pigmentosa UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0013329 MONDO:0016046 True familial clubfoot due to 17q23.1q23.2 microduplication familial clubfoot with or without associated lower limb anomalies UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0013329 MONDO:0016967 True familial clubfoot due to 17q23.1q23.2 microduplication partial duplication of the long arm of chromosome 17 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0013334 MONDO:0003847 True cocoon syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0013334 MONDO:0019054 True cocoon syndrome congenital limb malformation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0013336 MONDO:0015159 True chromosome 19p13.13 deletion syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0013336 MONDO:0016897 True chromosome 19p13.13 deletion syndrome partial deletion of the short arm of chromosome 19 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0013337 MONDO:0018213 True neuropathy, hereditary sensory and autonomic, type 1C hereditary sensory and autonomic neuropathy type 1 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0013338 MONDO:0017058 True Charcot-Marie-Tooth disease recessive intermediate B autosomal recessive intermediate Charcot-Marie-Tooth disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013339 MONDO:0016333 True dilated cardiomyopathy 1GG familial dilated cardiomyopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0013342 MONDO:0019064 True hereditary spastic paraplegia 48 hereditary spastic paraplegia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0013341 MONDO:0002012 True methylmalonic acidemia due to transcobalamin receptor defect methylmalonic acidemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0013341 MONDO:0019220 True methylmalonic acidemia due to transcobalamin receptor defect inborn disorder of cobalamin metabolism and transport UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0013342 MONDO:0002561 True hereditary spastic paraplegia 48 lysosomal storage disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0013342 MONDO:0019064 True hereditary spastic paraplegia 48 hereditary spastic paraplegia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED MONDO:0013344 MONDO:0100246 True migraine, with or without aura, susceptibility to, 13 migraine with or without aura, susceptibility to UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0013345 MONDO:0010924 True d-2-hydroxyglutaric aciduria 2 D-2-hydroxyglutaric aciduria UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0013348 MONDO:0015993 True cone-rod dystrophy 15 cone-rod dystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0013345 MONDO:0010924 True d-2-hydroxyglutaric aciduria 2 D-2-hydroxyglutaric aciduria UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0013348 MONDO:0015993 True cone-rod dystrophy 15 cone-rod dystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED MONDO:0013348 MONDO:0019200 True cone-rod dystrophy 15 retinitis pigmentosa UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0013349 MONDO:0005500 True ALG11-congenital disorder of glycosylation congenital disorder of glycosylation type I UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0013350 MONDO:0018158 True mitochondrial DNA depletion syndrome 4b mitochondrial DNA depletion syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0013355 MONDO:0019403 True congenital dyserythropoietic anemia type 4 congenital dyserythropoietic anemia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0013349 MONDO:0005500 True ALG11-congenital disorder of glycosylation congenital disorder of glycosylation type I UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0013349 MONDO:0017740 True ALG11-congenital disorder of glycosylation disorder of protein N-glycosylation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0013350 MONDO:0018158 True mitochondrial DNA depletion syndrome 4b mitochondrial DNA depletion syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0013351 MONDO:0002602 True infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly central nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0013351 MONDO:0003847 True infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0013352 MONDO:0000508 True intellectual disability-severe speech delay-mild dysmorphism syndrome syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0013352 MONDO:0003847 True intellectual disability-severe speech delay-mild dysmorphism syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0013354 MONDO:0016387 True spastic ataxia 4 mitochondrial oxidative phosphorylation disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0013354 MONDO:0017847 True spastic ataxia 4 autosomal recessive spastic ataxia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0013355 MONDO:0019403 True congenital dyserythropoietic anemia type 4 congenital dyserythropoietic anemia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED MONDO:0013356 MONDO:0017329 True vesicoureteral reflux 3 familial vesicoureteral reflux UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0013358 MONDO:0019342 True Seckel syndrome 4 Seckel syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0013359 MONDO:0016525 True familial hyperaldosteronism type III familial hyperaldosteronism UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0013364 MONDO:0019188 True Rubinstein-Taybi syndrome due to EP300 haploinsufficiency Rubinstein-Taybi syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0013365 MONDO:0019588 True autosomal recessive nonsyndromic hearing loss 83 hearing loss, autosomal recessive UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0013357 MONDO:0016915 True chromosome 17q11.2 deletion syndrome, 1.4Mb partial deletion of the long arm of chromosome 17 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0013357 MONDO:0018975 True chromosome 17q11.2 deletion syndrome, 1.4Mb neurofibromatosis type 1 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS +MONDO:0013358 MONDO:0019342 True Seckel syndrome 4 Seckel syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0013359 MONDO:0016525 True familial hyperaldosteronism type III familial hyperaldosteronism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0013360 MONDO:0015262 True brachyolmia, Maroteaux type brachyolmia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0013361 MONDO:0006025 True congenital prothrombin deficiency autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0013361 MONDO:0015722 True congenital prothrombin deficiency congenital vitamin K-dependent coagulation factors deficiency UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS +MONDO:0013362 MONDO:0015159 True THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0013363 MONDO:0016953 True chromosome 2q31.1 duplication syndrome partial duplication of the long arm of chromosome 2 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0013364 MONDO:0019188 True Rubinstein-Taybi syndrome due to EP300 haploinsufficiency Rubinstein-Taybi syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0013365 MONDO:0019588 True autosomal recessive nonsyndromic hearing loss 83 hearing loss, autosomal recessive UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED MONDO:0013367 MONDO:0019171 True long QT syndrome 2 familial long QT syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0013369 MONDO:0024573 True hypertrophic cardiomyopathy 7 familial hypertrophic cardiomyopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0013368 MONDO:0018234 True mammary-digital-nail syndrome dysostosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0013368 MONDO:0019054 True mammary-digital-nail syndrome congenital limb malformation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0013369 MONDO:0024573 True hypertrophic cardiomyopathy 7 familial hypertrophic cardiomyopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED MONDO:0013370 MONDO:0019171 True long QT syndrome 6 familial long QT syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0013371 MONDO:0016333 True dilated cardiomyopathy 1U familial dilated cardiomyopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0013372 MONDO:0019171 True long QT syndrome 5 familial long QT syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0013373 MONDO:0016333 True dilated cardiomyopathy 1V familial dilated cardiomyopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0013375 MONDO:0001029 True Klippel-Feil syndrome 3, autosomal dominant Klippel-Feil syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0013375 MONDO:0001029 True Klippel-Feil syndrome 3, autosomal dominant Klippel-Feil syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED MONDO:0013376 MONDO:0000170 True microphthalmia, isolated, with coloboma 6 microphthalmia, isolated, with coloboma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0013377 MONDO:0000062 True isolated microphthalmia 7 isolated microphthalmia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0013379 MONDO:0018997 True Noonan syndrome 7 Noonan syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0013380 MONDO:0007893 True LEOPARD syndrome 3 Noonan syndrome with multiple lentigines UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0013377 MONDO:0000062 True isolated microphthalmia 7 isolated microphthalmia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0013379 MONDO:0018997 True Noonan syndrome 7 Noonan syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0013380 MONDO:0007893 True LEOPARD syndrome 3 Noonan syndrome with multiple lentigines UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0013381 MONDO:0018213 True neuropathy, hereditary sensory, type 1D hereditary sensory and autonomic neuropathy type 1 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0013382 MONDO:0000152 True progressive demyelinating neuropathy with bilateral striatal necrosis thiamine-responsive dysfunction syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0013385 MONDO:0002457 True Treacher Collins syndrome 2 Treacher-Collins syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0013386 MONDO:0019588 True autosomal recessive nonsyndromic hearing loss 74 hearing loss, autosomal recessive UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0013387 MONDO:0100062 True developmental and epileptic encephalopathy, 7 developmental and epileptic encephalopathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0013388 MONDO:0100062 True developmental and epileptic encephalopathy, 11 developmental and epileptic encephalopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0013390 MONDO:0015152 True autosomal recessive limb-girdle muscular dystrophy type 2Q autosomal recessive limb-girdle muscular dystrophy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0013392 MONDO:0015244 True autosomal recessive spinocerebellar ataxia 10 autosomal recessive cerebellar ataxia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0013395 MONDO:0019200 True retinitis pigmentosa 4 retinitis pigmentosa UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0013385 MONDO:0002457 True Treacher Collins syndrome 2 Treacher-Collins syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0013386 MONDO:0019588 True autosomal recessive nonsyndromic hearing loss 74 hearing loss, autosomal recessive UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0013387 MONDO:0100062 True developmental and epileptic encephalopathy, 7 developmental and epileptic encephalopathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0013388 MONDO:0100062 True developmental and epileptic encephalopathy, 11 developmental and epileptic encephalopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0013390 MONDO:0015152 True autosomal recessive limb-girdle muscular dystrophy type 2Q autosomal recessive limb-girdle muscular dystrophy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0013390 MONDO:0016198 True autosomal recessive limb-girdle muscular dystrophy type 2Q qualitative or quantitative defects of plectin UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0013391 MONDO:0019046 True sterol carrier protein 2 deficiency leukodystrophy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0013391 MONDO:0019233 True sterol carrier protein 2 deficiency disorder of peroxisomal beta oxidation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0013392 MONDO:0015244 True autosomal recessive spinocerebellar ataxia 10 autosomal recessive cerebellar ataxia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0013393 MONDO:0016906 True distal 7q11.23 microdeletion syndrome partial deletion of the long arm of chromosome 7 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0013395 MONDO:0019200 True retinitis pigmentosa 4 retinitis pigmentosa UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0013396 MONDO:0003847 True chromosome 1p32-p31 deletion syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0013396 MONDO:0016883 True chromosome 1p32-p31 deletion syndrome partial deletion of the short arm of chromosome 1 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013397 MONDO:0024516 True acne inversa, familial, 2 familial acne inversa UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0013398 MONDO:0024516 True acne inversa, familial, 3 familial acne inversa UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0013401 MONDO:0019064 True hereditary spastic paraplegia 51 hereditary spastic paraplegia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0013402 MONDO:0019200 True retinitis pigmentosa 27 retinitis pigmentosa UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0013400 MONDO:0003847 True Congenital adrenal insuffiency with 46, XY sex reversal OR 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0013400 MONDO:0005495 True Congenital adrenal insuffiency with 46, XY sex reversal OR 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency adrenal gland disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0013400 MONDO:0020040 True Congenital adrenal insuffiency with 46, XY sex reversal OR 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency 46,XY disorder of sex development UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0013401 MONDO:0019064 True hereditary spastic paraplegia 51 hereditary spastic paraplegia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0013402 MONDO:0019200 True retinitis pigmentosa 27 retinitis pigmentosa UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED MONDO:0013403 MONDO:0018677 True heterotaxy, visceral, 4, autosomal visceral heterotaxy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0013405 MONDO:0019200 True retinitis pigmentosa 49 retinitis pigmentosa UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0013406 MONDO:0005150 True age related macular degeneration 6 age-related macular degeneration UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0013407 MONDO:0019200 True retinitis pigmentosa 47 retinitis pigmentosa UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0013404 MONDO:0000351 True hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase disorder of methionine catabolism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0013405 MONDO:0019200 True retinitis pigmentosa 49 retinitis pigmentosa UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0013406 MONDO:0005150 True age related macular degeneration 6 age-related macular degeneration UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0013407 MONDO:0019200 True retinitis pigmentosa 47 retinitis pigmentosa UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED MONDO:0013408 MONDO:0021094 True FADD-related immunodeficiency immunodeficiency disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0013410 MONDO:0010765 True 46,XY sex reversal 6 46,XY complete gonadal dysgenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0013412 MONDO:0024573 True hypertrophic cardiomyopathy 9 familial hypertrophic cardiomyopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0013413 MONDO:0019200 True retinitis pigmentosa 45 retinitis pigmentosa UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0013414 MONDO:0019200 True retinitis pigmentosa 44 retinitis pigmentosa UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0013416 MONDO:0005150 True age related macular degeneration 8 age-related macular degeneration UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0013410 MONDO:0010765 True 46,XY sex reversal 6 46,XY complete gonadal dysgenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0013412 MONDO:0024573 True hypertrophic cardiomyopathy 9 familial hypertrophic cardiomyopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0013413 MONDO:0019200 True retinitis pigmentosa 45 retinitis pigmentosa UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0013414 MONDO:0019200 True retinitis pigmentosa 44 retinitis pigmentosa UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0013416 MONDO:0005150 True age related macular degeneration 8 age-related macular degeneration UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED MONDO:0013418 MONDO:0019625 True aortic aneurysm, familial thoracic 7 familial thoracic aortic aneurysm and aortic dissection UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0013420 MONDO:0005150 True age related macular degeneration 12 age-related macular degeneration UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0013420 MONDO:0005150 True age related macular degeneration 12 age-related macular degeneration UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED MONDO:0013423 MONDO:0044209 True immunodeficiency due to MASP-2 deficiency disorder of lectin complement activation pathway UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0013425 MONDO:0019200 True retinitis pigmentosa 20 retinitis pigmentosa UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0013426 MONDO:0018954 True aneurysm-osteoarthritis syndrome Loeys-Dietz syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0013428 MONDO:0016817 True Meier-Gorlin syndrome 2 Meier-Gorlin syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0013429 MONDO:0019200 True retinitis pigmentosa 40 retinitis pigmentosa UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0013430 MONDO:0016817 True Meier-Gorlin syndrome 3 Meier-Gorlin syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0013431 MONDO:0016817 True Meier-Gorlin syndrome 4 Meier-Gorlin syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0013432 MONDO:0016817 True Meier-Gorlin syndrome 5 Meier-Gorlin syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0013434 MONDO:0016575 True primary ciliary dyskinesia 14 primary ciliary dyskinesia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0013435 MONDO:0016575 True primary ciliary dyskinesia 15 primary ciliary dyskinesia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0013436 MONDO:0019200 True retinitis pigmentosa 39 retinitis pigmentosa UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0013437 MONDO:0019200 True retinitis pigmentosa 43 retinitis pigmentosa UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0013439 MONDO:0018841 True congenital bile acid synthesis defect 3 congenital bile acid synthesis defect UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0013424 MONDO:0016885 True 3p- syndrome partial deletion of the short arm of chromosome 3 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0013424 MONDO:0017393 True 3p- syndrome blepharophimosis - intellectual disability syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0013425 MONDO:0019200 True retinitis pigmentosa 20 retinitis pigmentosa UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0013426 MONDO:0018954 True aneurysm-osteoarthritis syndrome Loeys-Dietz syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0013427 MONDO:0015979 True immunodeficiency 31B hereditary predisposition to infections UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0013428 MONDO:0016817 True Meier-Gorlin syndrome 2 Meier-Gorlin syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0013429 MONDO:0019200 True retinitis pigmentosa 40 retinitis pigmentosa UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0013430 MONDO:0016817 True Meier-Gorlin syndrome 3 Meier-Gorlin syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0013431 MONDO:0016817 True Meier-Gorlin syndrome 4 Meier-Gorlin syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0013432 MONDO:0016817 True Meier-Gorlin syndrome 5 Meier-Gorlin syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0013433 MONDO:0018646 True primary sclerosing cholangitis sclerosing cholangitis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0013434 MONDO:0016575 True primary ciliary dyskinesia 14 primary ciliary dyskinesia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0013435 MONDO:0016575 True primary ciliary dyskinesia 15 primary ciliary dyskinesia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0013436 MONDO:0019200 True retinitis pigmentosa 39 retinitis pigmentosa UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0013437 MONDO:0019200 True retinitis pigmentosa 43 retinitis pigmentosa UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0013438 MONDO:0016759 True pontocerebellar hypoplasia type 2D pontocerebellar hypoplasia type 2 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0013439 MONDO:0018841 True congenital bile acid synthesis defect 3 congenital bile acid synthesis defect UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED MONDO:0013440 MONDO:0000173 True autosomal recessive limb-girdle muscular dystrophy type 2P muscular dystrophy-dystroglycanopathy, type C UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0013440 MONDO:0015152 True autosomal recessive limb-girdle muscular dystrophy type 2P autosomal recessive limb-girdle muscular dystrophy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0013441 MONDO:0018770 True asphyxiating thoracic dystrophy 4 Jeune syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0013442 MONDO:0019005 True nephronophthisis 12 nephronophthisis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0013443 MONDO:0019342 True Seckel syndrome 5 Seckel syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0013444 MONDO:0019005 True nephronophthisis 9 nephronophthisis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0013446 MONDO:0018998 True Leber congenital amaurosis 6 Leber congenital amaurosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0013447 MONDO:0019200 True retinitis pigmentosa 48 retinitis pigmentosa UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0013448 MONDO:0018214 True generalized epilepsy with febrile seizures plus, type 8 generalized epilepsy with febrile seizures plus UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0013449 MONDO:0018998 True Leber congenital amaurosis 7 Leber congenital amaurosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0013450 MONDO:0016293 True congenital stationary night blindness 1D congenital stationary night blindness UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0013453 MONDO:0018998 True Leber congenital amaurosis 8 Leber congenital amaurosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0013454 MONDO:0018998 True Leber congenital amaurosis 11 Leber congenital amaurosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0013455 MONDO:0024573 True hypertrophic cardiomyopathy 16 familial hypertrophic cardiomyopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0013457 MONDO:0018998 True Leber congenital amaurosis 15 Leber congenital amaurosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0013464 MONDO:0016227 True episodic ataxia type 5 hereditary episodic ataxia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0013466 MONDO:0000358 True orofacial cleft 13 orofacial cleft UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0013440 MONDO:0015152 True autosomal recessive limb-girdle muscular dystrophy type 2P autosomal recessive limb-girdle muscular dystrophy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0013441 MONDO:0018770 True asphyxiating thoracic dystrophy 4 Jeune syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0013442 MONDO:0019005 True nephronophthisis 12 nephronophthisis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0013443 MONDO:0019342 True Seckel syndrome 5 Seckel syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0013444 MONDO:0019005 True nephronophthisis 9 nephronophthisis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0013446 MONDO:0018998 True Leber congenital amaurosis 6 Leber congenital amaurosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0013447 MONDO:0019200 True retinitis pigmentosa 48 retinitis pigmentosa UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0013448 MONDO:0018214 True generalized epilepsy with febrile seizures plus, type 8 generalized epilepsy with febrile seizures plus UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0013449 MONDO:0018998 True Leber congenital amaurosis 7 Leber congenital amaurosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0013450 MONDO:0016293 True congenital stationary night blindness 1D congenital stationary night blindness UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0013453 MONDO:0018998 True Leber congenital amaurosis 8 Leber congenital amaurosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0013454 MONDO:0018998 True Leber congenital amaurosis 11 Leber congenital amaurosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0013455 MONDO:0024573 True hypertrophic cardiomyopathy 16 familial hypertrophic cardiomyopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0013456 MONDO:0016624 True constitutional megaloblastic anemia with severe neurologic disease inherited deficiency anemia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0013456 MONDO:0017313 True constitutional megaloblastic anemia with severe neurologic disease disorder of folate metabolism and transport UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0013457 MONDO:0018998 True Leber congenital amaurosis 15 Leber congenital amaurosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0013458 MONDO:0015962 True hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome inherited renal tubular disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0013458 MONDO:0016387 True hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome mitochondrial oxidative phosphorylation disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0013464 MONDO:0016227 True episodic ataxia type 5 hereditary episodic ataxia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0013465 MONDO:0018852 True achromatopsia 4 achromatopsia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0013466 MONDO:0000358 True orofacial cleft 13 orofacial cleft UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED MONDO:0013467 MONDO:0044209 True immunodeficiency due to ficolin3 deficiency disorder of lectin complement activation pathway UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0013468 MONDO:0019200 True retinitis pigmentosa 59 retinitis pigmentosa UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0013469 MONDO:0019200 True retinitis pigmentosa 38 retinitis pigmentosa UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0013470 MONDO:0018214 True generalized epilepsy with febrile seizures plus, type 7 generalized epilepsy with febrile seizures plus UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0013471 MONDO:0019588 True autosomal recessive nonsyndromic hearing loss 61 hearing loss, autosomal recessive UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0013472 MONDO:0018943 True fatal infantile hypertonic myofibrillar myopathy myofibrillar myopathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0013474 MONDO:0024573 True hypertrophic cardiomyopathy 17 familial hypertrophic cardiomyopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0013475 MONDO:0024573 True hypertrophic cardiomyopathy 18 familial hypertrophic cardiomyopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0013477 MONDO:0024573 True hypertrophic cardiomyopathy 20 familial hypertrophic cardiomyopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0013478 MONDO:0020088 True PLIN1-related familial partial lipodystrophy familial partial lipodystrophy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0013468 MONDO:0019200 True retinitis pigmentosa 59 retinitis pigmentosa UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0013469 MONDO:0019200 True retinitis pigmentosa 38 retinitis pigmentosa UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0013470 MONDO:0018214 True generalized epilepsy with febrile seizures plus, type 7 generalized epilepsy with febrile seizures plus UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0013471 MONDO:0019588 True autosomal recessive nonsyndromic hearing loss 61 hearing loss, autosomal recessive UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0013472 MONDO:0018943 True fatal infantile hypertonic myofibrillar myopathy myofibrillar myopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0013474 MONDO:0024573 True hypertrophic cardiomyopathy 17 familial hypertrophic cardiomyopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0013475 MONDO:0024573 True hypertrophic cardiomyopathy 18 familial hypertrophic cardiomyopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0013477 MONDO:0024573 True hypertrophic cardiomyopathy 20 familial hypertrophic cardiomyopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0013478 MONDO:0020088 True PLIN1-related familial partial lipodystrophy familial partial lipodystrophy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED MONDO:0013479 MONDO:0016333 True dilated cardiomyopathy 1HH familial dilated cardiomyopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0013482 MONDO:0018921 True Meckel syndrome, type 8 Meckel syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0013484 MONDO:0005129 True cataract 36 cataract UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0013489 MONDO:0019588 True autosomal recessive nonsyndromic hearing loss 89 hearing loss, autosomal recessive UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0013492 MONDO:0008756 True alopecia-intellectual disability syndrome 3 alopecia - intellectual disability syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0013495 MONDO:0017265 True autosomal recessive congenital ichthyosis 8 autosomal recessive congenital ichthyosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0013499 MONDO:0019391 True Fanconi anemia complementation group P Fanconi anemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0013481 MONDO:0016911 True chromosome 13q14 deletion syndrome partial deletion of the long arm of chromosome 13 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0013482 MONDO:0018921 True Meckel syndrome, type 8 Meckel syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0013484 MONDO:0005129 True cataract 36 cataract UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0013485 MONDO:0019792 True spinocerebellar ataxia type 35 autosomal dominant cerebellar ataxia type I UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0013486 MONDO:0019792 True spinocerebellar ataxia type 32 autosomal dominant cerebellar ataxia type I UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0013489 MONDO:0019588 True autosomal recessive nonsyndromic hearing loss 89 hearing loss, autosomal recessive UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0013490 MONDO:0011391 True megalencephalic leukoencephalopathy with subcortical cysts 2A megalencephalic leukoencephalopathy with subcortical cysts UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0013491 MONDO:0011391 True megalencephalic leukoencephalopathy with subcortical cysts 2B, remitting, with or without intellectual disability megalencephalic leukoencephalopathy with subcortical cysts UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0013492 MONDO:0008756 True alopecia-intellectual disability syndrome 3 alopecia - intellectual disability syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0013495 MONDO:0017265 True autosomal recessive congenital ichthyosis 8 autosomal recessive congenital ichthyosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0013498 MONDO:0003847 True schizophrenia 15 hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0013498 MONDO:0005090 True schizophrenia 15 schizophrenia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED +MONDO:0013499 MONDO:0019391 True Fanconi anemia complementation group P Fanconi anemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED MONDO:0013501 MONDO:0005144 True frontotemporal dementia and/or amyotrophic lateral sclerosis 6 familial amyotrophic lateral sclerosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0013501 MONDO:0017161 True frontotemporal dementia and/or amyotrophic lateral sclerosis 6 frontotemporal dementia with motor neuron disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0013502 MONDO:0007101 True amyloidosis, primary localized cutaneous, 2 familial primary localized cutaneous amyloidosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0013503 MONDO:0015279 True candidiasis, familial, 6 chronic mucocutaneous candidiasis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0013504 MONDO:0004983 True spermatogenic failure 8 spermatogenic failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0013505 MONDO:0004983 True spermatogenic failure 9 spermatogenic failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0013507 MONDO:0018305 True granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3 chronic granulomatous disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0013504 MONDO:0004983 True spermatogenic failure 8 spermatogenic failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0013505 MONDO:0004983 True spermatogenic failure 9 spermatogenic failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0013505 MONDO:0015746 True spermatogenic failure 9 male infertility due to globozoospermia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0013506 MONDO:0005090 True schizophrenia 16 schizophrenia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED +MONDO:0013507 MONDO:0018305 True granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3 chronic granulomatous disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED MONDO:0013508 MONDO:0001384 True myopia 19, autosomal dominant myopia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0013509 MONDO:0100172 True intellectual disability, autosomal dominant 6 intellectual disability, autosomal dominant UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0013510 MONDO:0024462 True melanoma, cutaneous malignant, susceptibility to, 6 susceptibility to familial cutaneous melanoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0013512 MONDO:0011399 True hemoglobin H disease alpha thalassemia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS +MONDO:0013512 MONDO:0011399 True hemoglobin H disease alpha thalassemia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED MONDO:0013513 MONDO:0018054 True atrial fibrillation, familial, 9 familial atrial fibrillation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0013514 MONDO:0003037 True hypotrichosis 3 hypotrichosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0013516 MONDO:0019200 True retinitis pigmentosa 60 retinitis pigmentosa UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0013514 MONDO:0003037 True hypotrichosis 3 hypotrichosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0013516 MONDO:0019200 True retinitis pigmentosa 60 retinitis pigmentosa UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED MONDO:0013518 MONDO:0013099 True pituitary hormone deficiency, combined, 6 combined pituitary hormone deficiencies, genetic form UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0013519 MONDO:0015780 True dyskeratosis congenita, autosomal recessive 2 dyskeratosis congenita UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0013520 MONDO:0015780 True dyskeratosis congenita, autosomal recessive 3 dyskeratosis congenita UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0013521 MONDO:0015780 True dyskeratosis congenita, autosomal dominant 2 dyskeratosis congenita UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0013522 MONDO:0015780 True dyskeratosis congenita, autosomal dominant 3 dyskeratosis congenita UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0013519 MONDO:0006025 True dyskeratosis congenita, autosomal recessive 2 autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0013519 MONDO:0015780 True dyskeratosis congenita, autosomal recessive 2 dyskeratosis congenita UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0013520 MONDO:0006025 True dyskeratosis congenita, autosomal recessive 3 autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0013520 MONDO:0015780 True dyskeratosis congenita, autosomal recessive 3 dyskeratosis congenita UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0013521 MONDO:0000426 True dyskeratosis congenita, autosomal dominant 2 autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0013521 MONDO:0015780 True dyskeratosis congenita, autosomal dominant 2 dyskeratosis congenita UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0013522 MONDO:0000426 True dyskeratosis congenita, autosomal dominant 3 autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0013522 MONDO:0015780 True dyskeratosis congenita, autosomal dominant 3 dyskeratosis congenita UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0013523 MONDO:0006025 True Nestor-Guillermo progeria syndrome autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0013523 MONDO:0019707 True Nestor-Guillermo progeria syndrome primary osteolysis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013523 MONDO:0020732 True Nestor-Guillermo progeria syndrome progeria UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0013525 MONDO:0016575 True primary ciliary dyskinesia 16 primary ciliary dyskinesia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0013526 MONDO:0020074 True progressive myoclonic epilepsy type 6 progressive myoclonus epilepsy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0013528 MONDO:0019502 True intellectual disability, autosomal recessive 14 autosomal recessive non-syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0013529 MONDO:0017990 True catecholaminergic polymorphic ventricular tachycardia 3 catecholaminergic polymorphic ventricular tachycardia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0013525 MONDO:0016575 True primary ciliary dyskinesia 16 primary ciliary dyskinesia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0013526 MONDO:0020074 True progressive myoclonic epilepsy type 6 progressive myoclonus epilepsy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0013527 MONDO:0015204 True lissencephaly 4 microlissencephaly UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0013528 MONDO:0019502 True intellectual disability, autosomal recessive 14 autosomal recessive non-syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0013529 MONDO:0017990 True catecholaminergic polymorphic ventricular tachycardia 3 catecholaminergic polymorphic ventricular tachycardia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED MONDO:0013530 MONDO:0018054 True atrial fibrillation, familial, 10 familial atrial fibrillation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0013537 MONDO:0019588 True autosomal recessive nonsyndromic hearing loss 29 hearing loss, autosomal recessive UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0013541 MONDO:0000904 True complex cortical dysplasia with other brain malformations 1 complex cortical dysplasia with other brain malformations UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0013531 MONDO:0018162 True PSPH deficiency neurometabolic disorder due to serine deficiency UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0013533 MONDO:0015903 True hyperlipidemia due to hepatic triglyceride lipase deficiency hyperalphalipoproteinemia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0013534 MONDO:0019052 True apolipoprotein c-III deficiency inborn errors of metabolism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0013536 MONDO:0017754 True heme oxygenase 1 deficiency inborn disorder of porphyrin metabolism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0013537 MONDO:0019588 True autosomal recessive nonsyndromic hearing loss 29 hearing loss, autosomal recessive UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0013539 MONDO:0019052 True hypotonia-failure to thrive-microcephaly syndrome inborn errors of metabolism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0013540 MONDO:0005570 True deafness-lymphedema-leukemia syndrome hematologic disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0013541 MONDO:0000904 True complex cortical dysplasia with other brain malformations 1 complex cortical dysplasia with other brain malformations UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED MONDO:0013542 MONDO:0016820 True Moyamoya disease 5 Moyamoya disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0013544 MONDO:0018054 True atrial fibrillation, familial, 11 familial atrial fibrillation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0013545 MONDO:0018054 True atrial fibrillation, familial, 12 familial atrial fibrillation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0013547 MONDO:0014471 True mitochondrial complex V (ATP synthase) deficiency nuclear type 3 mitochondrial proton-transporting ATP synthase complex deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0013551 MONDO:0019064 True hereditary spastic paraplegia 47 hereditary spastic paraplegia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0013552 MONDO:0019064 True hereditary spastic paraplegia 52 hereditary spastic paraplegia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0013553 MONDO:0000133 True immunodeficiency-centromeric instability-facial anomalies syndrome 2 immunodeficiency-centromeric instability-facial anomalies syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0013559 MONDO:0019312 True Hermansky-Pudlak syndrome 7 Hermansky-Pudlak syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0013560 MONDO:0019312 True Hermansky-Pudlak syndrome 8 Hermansky-Pudlak syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0013563 MONDO:0100247 True multiple congenital anomalies-hypotonia-seizures syndrome 1 multiple congenital anomalies-hypotonia-seizures syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0013565 MONDO:0019391 True Fanconi anemia complementation group G Fanconi anemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0013566 MONDO:0019391 True Fanconi anemia complementation group L Fanconi anemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0013567 MONDO:0006664 True atrial septal defect 3 atrial septal defect UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0013569 MONDO:0018770 True short-rib thoracic dysplasia 7 with or without polydactyly Jeune syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0013570 MONDO:0000732 True combined oxidative phosphorylation defect type 8 combined oxidative phosphorylation deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0013573 MONDO:0009032 True cranioectodermal dysplasia 3 cranioectodermal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0013547 MONDO:0014471 True mitochondrial complex V (ATP synthase) deficiency nuclear type 3 mitochondrial proton-transporting ATP synthase complex deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0013550 MONDO:0016108 True distal myopathy with posterior leg and anterior hand involvement autosomal dominant distal myopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0013551 MONDO:0019064 True hereditary spastic paraplegia 47 hereditary spastic paraplegia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0013552 MONDO:0019064 True hereditary spastic paraplegia 52 hereditary spastic paraplegia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0013553 MONDO:0000133 True immunodeficiency-centromeric instability-facial anomalies syndrome 2 immunodeficiency-centromeric instability-facial anomalies syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0013559 MONDO:0019312 True Hermansky-Pudlak syndrome 7 Hermansky-Pudlak syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0013560 MONDO:0019312 True Hermansky-Pudlak syndrome 8 Hermansky-Pudlak syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0013561 MONDO:0002081 True chondrodysplasia with joint dislocations, gPAPP type musculoskeletal system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0013563 MONDO:0015327 True multiple congenital anomalies-hypotonia-seizures syndrome 1 developmental anomaly of metabolic origin UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0013563 MONDO:0017748 True multiple congenital anomalies-hypotonia-seizures syndrome 1 inborn disorder of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0013563 MONDO:0100247 True multiple congenital anomalies-hypotonia-seizures syndrome 1 multiple congenital anomalies-hypotonia-seizures syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0013565 MONDO:0019391 True Fanconi anemia complementation group G Fanconi anemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0013566 MONDO:0019391 True Fanconi anemia complementation group L Fanconi anemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0013567 MONDO:0006664 True atrial septal defect 3 atrial septal defect UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0013569 MONDO:0018770 True short-rib thoracic dysplasia 7 with or without polydactyly Jeune syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0013570 MONDO:0000732 True combined oxidative phosphorylation defect type 8 combined oxidative phosphorylation deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0013572 MONDO:0020087 True Keppen-Lubinsky syndrome hereditary lipodystrophy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0013573 MONDO:0009032 True cranioectodermal dysplasia 3 cranioectodermal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0013574 MONDO:0019755 True cutis laxa - Marfanoid syndrome developmental defect during embryogenesis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0013576 MONDO:0003778 True recurrent infections associated with rare immunoglobulin isotypes deficiency inborn error of immunity UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0013578 MONDO:0015159 True DYRK1A-related intellectual disability syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013578 MONDO:0100172 True DYRK1A-related intellectual disability syndrome intellectual disability, autosomal dominant UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0013580 MONDO:0019169 True pyruvate dehydrogenase E1-beta deficiency pyruvate dehydrogenase deficiency UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0013579 MONDO:0019242 True methylmalonate semialdehyde dehydrogenase deficiency inborn disorder of branched-chain amino acid metabolism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0013580 MONDO:0019169 True pyruvate dehydrogenase E1-beta deficiency pyruvate dehydrogenase deficiency UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0013581 MONDO:0100172 True intellectual disability, autosomal dominant 2 intellectual disability, autosomal dominant UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0013582 MONDO:0000141 True mosaic variegated aneuploidy syndrome 2 mosaic variegated aneuploidy syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0013585 MONDO:0006037 True hydrolethalus syndrome 2 hydrolethalus syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0013582 MONDO:0000141 True mosaic variegated aneuploidy syndrome 2 mosaic variegated aneuploidy syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0013584 MONDO:0015547 True hereditary sensory neuropathy-deafness-dementia syndrome hereditary dementia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0013584 MONDO:0024237 True hereditary sensory neuropathy-deafness-dementia syndrome inherited neurodegenerative disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0013585 MONDO:0006037 True hydrolethalus syndrome 2 hydrolethalus syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0013587 MONDO:0016527 True glycogen storage disease due to lactate dehydrogenase H-subunit deficiency glycogen storage disease due to lactate dehydrogenase deficiency UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013588 MONDO:0017312 True Perrault syndrome 3 Perrault syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0013589 MONDO:0005363 True focal segmental glomerulosclerosis 6 inherited focal segmental glomerulosclerosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0013590 MONDO:0019354 True Stickler syndrome, type 4 Stickler syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0013593 MONDO:0019587 True autosomal dominant nonsyndromic hearing loss 64 autosomal dominant nonsyndromic hearing loss UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0013597 MONDO:0000009 True platelet-type bleeding disorder 14 inherited bleeding disorder, platelet-type UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0013591 MONDO:0015627 True epiphyseal dysplasia, multiple, 6 multiple epiphyseal dysplasia due to collagen 9 anomaly UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0013593 MONDO:0019587 True autosomal dominant nonsyndromic hearing loss 64 autosomal dominant nonsyndromic hearing loss UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0013594 MONDO:0019792 True spinocerebellar ataxia type 36 autosomal dominant cerebellar ataxia type I UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0013597 MONDO:0000009 True platelet-type bleeding disorder 14 inherited bleeding disorder, platelet-type UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0013598 MONDO:0003939 True myostatin-related muscle hypertrophy muscle tissue disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0013599 MONDO:0015126 True autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome polyendocrinopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013599 MONDO:0015279 True autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome chronic mucocutaneous candidiasis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0013600 MONDO:0100081 True insomnia sleep disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0013599 MONDO:0019787 True autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome autoimmune enteropathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013602 MONDO:0000448 True paragangliomas 5 paraganglioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0013603 MONDO:0001384 True myopia 20, autosomal dominant myopia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0013604 MONDO:0001384 True myopia 21, autosomal dominant myopia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0013605 MONDO:0009242 True brittle cornea syndrome 2 brittle cornea syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0013606 MONDO:0019312 True Hermansky-Pudlak syndrome 9 Hermansky-Pudlak syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0013608 MONDO:0018772 True Joubert syndrome 13 Joubert syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0013606 MONDO:0019312 True Hermansky-Pudlak syndrome 9 Hermansky-Pudlak syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0013608 MONDO:0018772 True Joubert syndrome 13 Joubert syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED MONDO:0013609 MONDO:0018921 True Meckel syndrome, type 10 Meckel syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0013610 MONDO:0019200 True retinitis pigmentosa 61 retinitis pigmentosa UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0013611 MONDO:0019200 True retinitis pigmentosa 62 retinitis pigmentosa UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0013612 MONDO:0000127 True geleophysic dysplasia 2 geleophysic dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0013613 MONDO:0018998 True Leber congenital amaurosis 16 Leber congenital amaurosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0013610 MONDO:0019200 True retinitis pigmentosa 61 retinitis pigmentosa UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0013611 MONDO:0019200 True retinitis pigmentosa 62 retinitis pigmentosa UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0013612 MONDO:0000127 True geleophysic dysplasia 2 geleophysic dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0013613 MONDO:0018998 True Leber congenital amaurosis 16 Leber congenital amaurosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0013615 MONDO:0015338 True craniosynostosis and dental anomalies syndromic craniosynostosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013616 MONDO:0015999 True pigmented nodular adrenocortical disease, primary, 3 primary pigmented nodular adrenocortical disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0013621 MONDO:0002350 True LAMB2-related infantile-onset nephrotic syndrome familial nephrotic syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0013622 MONDO:0000009 True platelet-type bleeding disorder 9 inherited bleeding disorder, platelet-type UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0013623 MONDO:0000009 True platelet-type bleeding disorder 11 inherited bleeding disorder, platelet-type UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0013624 MONDO:0019502 True Rafiq syndrome autosomal recessive non-syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0013626 MONDO:0005083 True psoriasis 14, pustular psoriasis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0013626 MONDO:0019751 True psoriasis 14, pustular autoinflammatory syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0013621 MONDO:0002350 True LAMB2-related infantile-onset nephrotic syndrome familial nephrotic syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0013622 MONDO:0000009 True platelet-type bleeding disorder 9 inherited bleeding disorder, platelet-type UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0013623 MONDO:0000009 True platelet-type bleeding disorder 11 inherited bleeding disorder, platelet-type UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0013624 MONDO:0019502 True Rafiq syndrome autosomal recessive non-syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0013625 MONDO:0008199 True Parkinson disease 17 late-onset Parkinson disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED +MONDO:0013626 MONDO:0005083 True psoriasis 14, pustular psoriasis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0013626 MONDO:0019268 True psoriasis 14, pustular epidermal disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0013626 MONDO:0019751 True psoriasis 14, pustular autoinflammatory syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013627 MONDO:0007477 True 3M syndrome 3 3-M syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0013628 MONDO:0016596 True hyperphosphatasia with intellectual disability syndrome 3 hyperphosphatasia-intellectual disability syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0013629 MONDO:0019502 True intellectual disability, autosomal recessive 16 autosomal recessive non-syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0013629 MONDO:0019502 True intellectual disability, autosomal recessive 16 autosomal recessive non-syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED MONDO:0013630 MONDO:0018921 True Meckel syndrome, type 9 Meckel syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0013632 MONDO:0019587 True autosomal dominant nonsyndromic hearing loss 33 autosomal dominant nonsyndromic hearing loss UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0013632 MONDO:0019587 True autosomal dominant nonsyndromic hearing loss 33 autosomal dominant nonsyndromic hearing loss UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0013634 MONDO:0019941 True neuropathy, hereditary sensory, type 2C hereditary sensory and autonomic neuropathy type 2 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0013635 MONDO:0007034 True Adams-Oliver syndrome 2 Adams-Oliver syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0013636 MONDO:0005388 True primary biliary cholangitis 4 primary biliary cholangitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0013637 MONDO:0005388 True primary biliary cholangitis 5 primary biliary cholangitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0013638 MONDO:0016649 True Warburg micro syndrome 3 Warburg micro syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0013641 MONDO:0016649 True Warburg micro syndrome 2 Warburg micro syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0013642 MONDO:0016296 True holoprosencephaly 11 holoprosencephaly UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0013649 MONDO:0003037 True hypotrichosis 9 hypotrichosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0013650 MONDO:0003037 True hypotrichosis 10 hypotrichosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0013651 MONDO:0019502 True intellectual disability, autosomal recessive 18 autosomal recessive non-syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0013654 MONDO:0016483 True aneurysm, intracranial berry, 11 intracranial berry aneurysm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0013636 MONDO:0005388 True primary biliary cholangitis 4 primary biliary cholangitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0013637 MONDO:0005388 True primary biliary cholangitis 5 primary biliary cholangitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0013638 MONDO:0016649 True Warburg micro syndrome 3 Warburg micro syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0013641 MONDO:0016649 True Warburg micro syndrome 2 Warburg micro syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0013642 MONDO:0016296 True holoprosencephaly 11 holoprosencephaly UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0013644 MONDO:0018993 True Charcot-Marie-Tooth disease axonal type 2O Charcot-Marie-Tooth disease type 2 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0013645 MONDO:0020047 True autosomal recessive spinocerebellar ataxia 11 autosomal recessive syndromic cerebellar ataxia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0013646 MONDO:0015159 True chromosome 8q21.11 deletion syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0013646 MONDO:0016907 True chromosome 8q21.11 deletion syndrome partial deletion of the long arm of chromosome 8 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0013648 MONDO:0019289 True familial progressive hyperpigmentation hyperpigmentation of the skin UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0013649 MONDO:0003037 True hypotrichosis 9 hypotrichosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0013650 MONDO:0003037 True hypotrichosis 10 hypotrichosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0013651 MONDO:0019502 True intellectual disability, autosomal recessive 18 autosomal recessive non-syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0013654 MONDO:0016483 True aneurysm, intracranial berry, 11 intracranial berry aneurysm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED MONDO:0013657 MONDO:0100172 True intellectual disability, autosomal dominant 10 intellectual disability, autosomal dominant UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0013658 MONDO:0100172 True intellectual disability, autosomal dominant 11 intellectual disability, autosomal dominant UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0013662 MONDO:0003749 True Barrett esophagus esophageal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0013664 MONDO:0010765 True 46,XY disorder of sex development due to testicular 17,20-desmolase deficiency 46,XY complete gonadal dysgenesis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0013661 MONDO:0019215 True combined malonic and methylmalonic acidemia classic organic aciduria UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0013662 MONDO:0003749 True Barrett esophagus esophageal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0013664 MONDO:0010765 True 46,XY disorder of sex development due to testicular 17,20-desmolase deficiency 46,XY complete gonadal dysgenesis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED MONDO:0013666 MONDO:0019354 True Stickler syndrome, type 5 Stickler syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0013668 MONDO:0016951 True tetrasomy 18p partial trisomy/tetrasomy of the short arm of chromosome 18 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013669 MONDO:0100526 True breast-ovarian cancer, familial, susceptibility to, 4 breast-ovarian cancer, familial, susceptibility to UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0013674 MONDO:0018307 True neurodegeneration with brain iron accumulation 4 neurodegeneration with brain iron accumulation UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0013675 MONDO:0017338 True multiple mitochondrial dysfunctions syndrome 2 fatal multiple mitochondrial dysfunctions syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0013679 MONDO:0017838 True sclerosteosis 2 sclerosteosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0013673 MONDO:0003847 True Wolfram-like syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0013674 MONDO:0018307 True neurodegeneration with brain iron accumulation 4 neurodegeneration with brain iron accumulation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0013675 MONDO:0017338 True multiple mitochondrial dysfunctions syndrome 2 fatal multiple mitochondrial dysfunctions syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0013679 MONDO:0017838 True sclerosteosis 2 sclerosteosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED MONDO:0013682 MONDO:0017329 True vesicoureteral reflux 4 familial vesicoureteral reflux UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0013683 MONDO:0017329 True vesicoureteral reflux 5 familial vesicoureteral reflux UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0013684 MONDO:0017329 True vesicoureteral reflux 6 familial vesicoureteral reflux UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0013688 MONDO:0006499 True linear and whorled nevoid hypermelanosis hamartoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013689 MONDO:0009299 True ovarian dysgenesis 3 46 XX gonadal dysgenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0013691 MONDO:0015267 True Feingold syndrome type 2 Feingold syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0013686 MONDO:0016108 True distal myopathy, Tateyama type autosomal dominant distal myopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0013687 MONDO:0018446 True autosomal recessive spinocerebellar ataxia 12 autosomal recessive cerebellar ataxia - epilepsy - intellectual disability syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0013688 MONDO:0019289 True linear and whorled nevoid hypermelanosis hyperpigmentation of the skin UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0013689 MONDO:0009299 True ovarian dysgenesis 3 46 XX gonadal dysgenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0013690 MONDO:0003847 True Pitt-Hopkins-like syndrome 2 hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0013691 MONDO:0015267 True Feingold syndrome type 2 Feingold syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0013692 MONDO:0015356 True BAP1-related tumor predisposition syndrome hereditary neoplastic syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013693 MONDO:0017411 True inflammatory skin and bowel disease, neonatal, 1 neonatal inflammatory skin and bowel disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0013694 MONDO:0019502 True intellectual disability, autosomal recessive 31 autosomal recessive non-syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0013694 MONDO:0019502 True intellectual disability, autosomal recessive 31 autosomal recessive non-syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0013695 MONDO:0000426 True colorectal cancer, hereditary nonpolyposis, type 6 autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0013695 MONDO:0018630 True colorectal cancer, hereditary nonpolyposis, type 6 hereditary nonpolyposis colon cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0013697 MONDO:0019502 True intellectual disability, autosomal recessive 29 autosomal recessive non-syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0013697 MONDO:0019502 True intellectual disability, autosomal recessive 29 autosomal recessive non-syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0013698 MONDO:0015240 True arthrogryposis, distal, type 1B digitotalar dysmorphism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0013699 MONDO:0000426 True Lynch syndrome 4 autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0013699 MONDO:0018630 True Lynch syndrome 4 hereditary nonpolyposis colon cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0013702 MONDO:0019502 True intellectual disability, autosomal recessive 27 autosomal recessive non-syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0013703 MONDO:0019502 True intellectual disability, autosomal recessive 33 autosomal recessive non-syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0013704 MONDO:0019502 True intellectual disability, autosomal recessive 30 autosomal recessive non-syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0013706 MONDO:0019502 True intellectual disability, autosomal recessive 23 autosomal recessive non-syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0013707 MONDO:0019502 True intellectual disability, autosomal recessive 24 autosomal recessive non-syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0013708 MONDO:0019502 True intellectual disability, autosomal recessive 25 autosomal recessive non-syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0013709 MONDO:0019502 True intellectual disability, autosomal recessive 28 autosomal recessive non-syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0013700 MONDO:0002525 True pancreatic triacylglycerol lipase deficiency inherited lipid metabolism disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0013702 MONDO:0019502 True intellectual disability, autosomal recessive 27 autosomal recessive non-syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0013703 MONDO:0019502 True intellectual disability, autosomal recessive 33 autosomal recessive non-syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0013704 MONDO:0019502 True intellectual disability, autosomal recessive 30 autosomal recessive non-syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0013706 MONDO:0019502 True intellectual disability, autosomal recessive 23 autosomal recessive non-syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0013707 MONDO:0019502 True intellectual disability, autosomal recessive 24 autosomal recessive non-syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0013708 MONDO:0019502 True intellectual disability, autosomal recessive 25 autosomal recessive non-syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0013709 MONDO:0019502 True intellectual disability, autosomal recessive 28 autosomal recessive non-syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0013710 MONDO:0000426 True Lynch syndrome 5 autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0013710 MONDO:0018630 True Lynch syndrome 5 hereditary nonpolyposis colon cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0013711 MONDO:0015362 True peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome neuronopathy, distal hereditary motor, autosomal dominant UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0013711 MONDO:0016108 True peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome autosomal dominant distal myopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013712 MONDO:0012580 True surfactant metabolism dysfunction, pulmonary, 5 hereditary pulmonary alveolar proteinosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0013714 MONDO:0044209 True mannose-binding lectin deficiency disorder of lectin complement activation pathway UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0013716 MONDO:0007031 True aortic aneurysm, familial abdominal, 4 familial abdominal aortic aneurysm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0013717 MONDO:0018770 True asphyxiating thoracic dystrophy 5 Jeune syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0013718 MONDO:0019005 True nephronophthisis 13 nephronophthisis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0013719 MONDO:0009032 True cranioectodermal dysplasia 4 cranioectodermal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0013722 MONDO:0019046 True hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism leukodystrophy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0013717 MONDO:0018770 True asphyxiating thoracic dystrophy 5 Jeune syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0013718 MONDO:0019005 True nephronophthisis 13 nephronophthisis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0013719 MONDO:0009032 True cranioectodermal dysplasia 4 cranioectodermal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0013722 MONDO:0019046 True hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism leukodystrophy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0013722 MONDO:0020022 True hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism central nervous system malformation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0013725 MONDO:0000426 True colorectal cancer, hereditary nonpolyposis, type 7 autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0013725 MONDO:0018630 True colorectal cancer, hereditary nonpolyposis, type 7 hereditary nonpolyposis colon cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0013726 MONDO:0054865 True encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1 encephalopathy due to mitochondrial and peroxisomal fission defect UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0013734 MONDO:0016073 True microphthalmia, syndromic 11 syndromic microphthalmia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0013738 MONDO:0019588 True autosomal recessive nonsyndromic hearing loss 96 hearing loss, autosomal recessive UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0013726 MONDO:0054865 True encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1 encephalopathy due to mitochondrial and peroxisomal fission defect UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0013730 MONDO:0005046 True graft versus host disease immune system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0013731 MONDO:0019952 True MEGF10-related myopathy congenital myopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0013734 MONDO:0016073 True microphthalmia, syndromic 11 syndromic microphthalmia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0013735 MONDO:0015159 True microcephaly-cerebellar hypoplasia-cardiac conduction defect syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0013737 MONDO:0015150 True hereditary spastic paraplegia 46 complex hereditary spastic paraplegia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0013738 MONDO:0019588 True autosomal recessive nonsyndromic hearing loss 96 hearing loss, autosomal recessive UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED MONDO:0013739 MONDO:0018827 True chilblain lupus 2 familial chilblain lupus UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0013741 MONDO:0005115 True familial temporal lobe epilepsy 5 temporal lobe epilepsy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0013745 MONDO:0018772 True Joubert syndrome 14 Joubert syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0013740 MONDO:0015338 True lethal occipital encephalocele-skeletal dysplasia syndrome syndromic craniosynostosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0013741 MONDO:0005115 True familial temporal lobe epilepsy 5 temporal lobe epilepsy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0013745 MONDO:0018772 True Joubert syndrome 14 Joubert syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED MONDO:0013746 MONDO:0002070 True ventricular septal defect 1 ventricular septal defect UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0013747 MONDO:0020290 True atrioventricular septal defect 4 familial atrioventricular septal defect UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0013748 MONDO:0002070 True ventricular septal defect 2 ventricular septal defect UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0013749 MONDO:0002070 True ventricular septal defect 3 ventricular septal defect UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0013750 MONDO:0006664 True atrial septal defect 8 atrial septal defect UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0013750 MONDO:0006664 True atrial septal defect 8 atrial septal defect UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0013751 MONDO:0019571 True cutis laxa, autosomal dominant 2 autosomal dominant cutis laxa UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0013752 MONDO:0004933 True hypoplastic left heart syndrome 2 hypoplastic left heart syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0013753 MONDO:0018993 True Charcot-Marie-Tooth disease axonal type 2P Charcot-Marie-Tooth disease type 2 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0013754 MONDO:0019572 True cutis laxa, autosomal recessive, type 1B autosomal recessive cutis laxa type 1 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0013755 MONDO:0017569 True PYCR1-related de Barsy syndrome de Barsy syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0013755 MONDO:0100237 True PYCR1-related de Barsy syndrome inherited cutis laxa UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0013756 MONDO:0016620 True hypertrophic osteoarthropathy, primary, autosomal recessive, 2 primary hypertrophic osteoarthropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0013757 MONDO:0000045 True congenital nongoitrous hypothryoidism 6 hypothyroidism, congenital, nongoitrous UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0013758 MONDO:0019548 True Charcot-Marie-Tooth disease dominant intermediate E autosomal dominant intermediate Charcot-Marie-Tooth disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013759 MONDO:0024462 True melanoma, cutaneous malignant, susceptibility to, 8 susceptibility to familial cutaneous melanoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0013760 MONDO:0018117 True congenital ichthyosis-intellectual disability-spastic quadriplegia syndrome disorder of phospholipids, sphingolipids and fatty acids biosynthesis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013761 MONDO:0000152 True childhood encephalopathy due to thiamine pyrophosphokinase deficiency thiamine-responsive dysfunction syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0013762 MONDO:0018424 True lipoic acid synthetase deficiency inherited lipoic acid biosynthesis defect UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013762 MONDO:0019169 True lipoic acid synthetase deficiency pyruvate dehydrogenase deficiency UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0013763 MONDO:0018772 True Joubert syndrome 15 Joubert syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0013764 MONDO:0018772 True Joubert syndrome 16 Joubert syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0013766 MONDO:0018768 True familial cold autoinflammatory syndrome 3 familial cold autoinflammatory syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0013763 MONDO:0018772 True Joubert syndrome 15 Joubert syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0013764 MONDO:0018772 True Joubert syndrome 16 Joubert syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0013766 MONDO:0018768 True familial cold autoinflammatory syndrome 3 familial cold autoinflammatory syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0013767 MONDO:0017979 True autoimmune lymphoproliferative syndrome type 4 autoimmune lymphoproliferative syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0013768 MONDO:0018870 True arterial calcification, generalized, of infancy, 2 arterial calcification of infancy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0013769 MONDO:0020290 True atrioventricular septal defect 5 familial atrioventricular septal defect UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0013770 MONDO:0006664 True atrial septal defect 9 atrial septal defect UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0013773 MONDO:0020496 True porencephaly 2 familial porencephaly UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0013770 MONDO:0006664 True atrial septal defect 9 atrial septal defect UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0013773 MONDO:0020496 True porencephaly 2 familial porencephaly UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED MONDO:0013774 MONDO:0018065 True trigonocephaly 2 isolated trigonocephaly UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0013775 MONDO:0100240 True thrombomodulin-related bleeding disorder inherited thrombophilia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0013777 MONDO:0019162 True pseudohypoaldosteronism type 2B pseudohypoaldosteronism type 2 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0013778 MONDO:0019162 True pseudohypoaldosteronism type 2C pseudohypoaldosteronism type 2 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0013779 MONDO:0021094 True Wiskott-Aldrich syndrome 2 immunodeficiency disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING -MONDO:0013780 MONDO:0019200 True retinitis pigmentosa 63 retinitis pigmentosa UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0013781 MONDO:0019162 True pseudohypoaldosteronism type 2D pseudohypoaldosteronism type 2 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0013782 MONDO:0019162 True pseudohypoaldosteronism type 2E pseudohypoaldosteronism type 2 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0013776 MONDO:0017847 True spastic ataxia 5 autosomal recessive spastic ataxia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0013776 MONDO:0018158 True spastic ataxia 5 mitochondrial DNA depletion syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS +MONDO:0013777 MONDO:0019162 True pseudohypoaldosteronism type 2B pseudohypoaldosteronism type 2 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0013778 MONDO:0019162 True pseudohypoaldosteronism type 2C pseudohypoaldosteronism type 2 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0013780 MONDO:0019200 True retinitis pigmentosa 63 retinitis pigmentosa UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0013781 MONDO:0019162 True pseudohypoaldosteronism type 2D pseudohypoaldosteronism type 2 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0013782 MONDO:0019162 True pseudohypoaldosteronism type 2E pseudohypoaldosteronism type 2 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0013783 MONDO:0000170 True microphthalmia, isolated, with coloboma 7 microphthalmia, isolated, with coloboma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0013785 MONDO:0019502 True intellectual disability, autosomal recessive 34 autosomal recessive non-syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0013786 MONDO:0015993 True cone-rod dystrophy 16 cone-rod dystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0013785 MONDO:0019502 True intellectual disability, autosomal recessive 34 autosomal recessive non-syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0013786 MONDO:0015993 True cone-rod dystrophy 16 cone-rod dystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED MONDO:0013786 MONDO:0019200 True cone-rod dystrophy 16 retinitis pigmentosa UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0013789 MONDO:0005500 True DDOST-congenital disorder of glycosylation congenital disorder of glycosylation type I UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0013788 MONDO:0016485 True Usher syndrome type 3B Usher syndrome type 3 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0013789 MONDO:0005500 True DDOST-congenital disorder of glycosylation congenital disorder of glycosylation type I UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0013789 MONDO:0017740 True DDOST-congenital disorder of glycosylation disorder of protein N-glycosylation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013790 MONDO:0016558 True mirror movements 2 familial congenital mirror movements UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0013794 MONDO:0019111 True thrombocythemia 3 familial thrombocytosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0013795 MONDO:0016068 True fibrochondrogenesis 2 fibrochondrogenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0013800 MONDO:0020066 True Ehlers-Danlos syndrome, kyphoscoliotic and deafness type Ehlers-Danlos syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0013805 MONDO:0100172 True intellectual disability, autosomal dominant 13 intellectual disability, autosomal dominant UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0013807 MONDO:0016293 True congenital stationary night blindness 1E congenital stationary night blindness UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0013810 MONDO:0005501 True COG6-ongenital disorder of glycosylation congenital disorder of glycosylation type II UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0013811 MONDO:0000732 True combined oxidative phosphorylation defect type 9 combined oxidative phosphorylation deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0013812 MONDO:0017579 True Baraitser-winter syndrome 2 Baraitser-Winter cerebrofrontofacial syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0013795 MONDO:0016068 True fibrochondrogenesis 2 fibrochondrogenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0013796 MONDO:0016967 True chromosome 17q12 duplication syndrome partial duplication of the long arm of chromosome 17 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0013797 MONDO:0016915 True chromosome 17q12 deletion syndrome partial deletion of the long arm of chromosome 17 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0013800 MONDO:0020066 True Ehlers-Danlos syndrome, kyphoscoliotic and deafness type Ehlers-Danlos syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0013802 MONDO:0016790 True infantile cerebellar-retinal degeneration tricarboxylic acid cycle disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0013802 MONDO:0019118 True infantile cerebellar-retinal degeneration inherited retinal dystrophy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0013802 MONDO:0024237 True infantile cerebellar-retinal degeneration inherited neurodegenerative disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0013806 MONDO:0015356 True familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome hereditary neoplastic syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0013806 MONDO:0019293 True familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome skin vascular disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0013807 MONDO:0016293 True congenital stationary night blindness 1E congenital stationary night blindness UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0013808 MONDO:0015356 True Maffucci syndrome hereditary neoplastic syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0013808 MONDO:0019293 True Maffucci syndrome skin vascular disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0013808 MONDO:0019716 True Maffucci syndrome overgrowth syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0013808 MONDO:0019755 True Maffucci syndrome developmental defect during embryogenesis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0013810 MONDO:0005501 True COG6-ongenital disorder of glycosylation congenital disorder of glycosylation type II UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0013810 MONDO:0017750 True COG6-ongenital disorder of glycosylation defect in conserved oligomeric Golgi complex UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0013811 MONDO:0000732 True combined oxidative phosphorylation defect type 9 combined oxidative phosphorylation deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0013812 MONDO:0017579 True Baraitser-winter syndrome 2 Baraitser-Winter cerebrofrontofacial syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0013813 MONDO:0000476 True dystonia 21 generalized dystonia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0013815 MONDO:0031615 True bent bone dysplasia syndrome 1 familial bent bone dysplasia syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0013817 MONDO:0005081 True preeclampsia/eclampsia 5 preeclampsia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0013818 MONDO:0009105 True trichohepatoenteric syndrome 2 trichohepatoenteric syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0013819 MONDO:0015452 True intellectual disability, autosomal dominant 14 Coffin-Siris syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0013820 MONDO:0015452 True intellectual disability, autosomal dominant 15 Coffin-Siris syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0013821 MONDO:0015452 True intellectual disability, autosomal dominant 16 Coffin-Siris syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0013818 MONDO:0009105 True trichohepatoenteric syndrome 2 trichohepatoenteric syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0013819 MONDO:0000426 True intellectual disability, autosomal dominant 14 autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0013819 MONDO:0015452 True intellectual disability, autosomal dominant 14 Coffin-Siris syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0013820 MONDO:0000426 True intellectual disability, autosomal dominant 15 autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0013820 MONDO:0015452 True intellectual disability, autosomal dominant 15 Coffin-Siris syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0013821 MONDO:0000426 True intellectual disability, autosomal dominant 16 autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0013821 MONDO:0015452 True intellectual disability, autosomal dominant 16 Coffin-Siris syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED MONDO:0013822 MONDO:0019797 True acrodysostosis 2 with or without hormone resistance acrodysostosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0013823 MONDO:0019587 True autosomal dominant nonsyndromic hearing loss 4B autosomal dominant nonsyndromic hearing loss UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0013824 MONDO:0018772 True Joubert syndrome 17 Joubert syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0013825 MONDO:0000824 True congenital diarrhea 6 congenital diarrhea UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0013826 MONDO:0019588 True autosomal recessive nonsyndromic hearing loss 86 hearing loss, autosomal recessive UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0013827 MONDO:0021022 True hyperekplexia 3 hereditary hyperekplexia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0013828 MONDO:0021022 True hyperekplexia 2 hereditary hyperekplexia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0013823 MONDO:0019587 True autosomal dominant nonsyndromic hearing loss 4B autosomal dominant nonsyndromic hearing loss UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0013824 MONDO:0018772 True Joubert syndrome 17 Joubert syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0013825 MONDO:0000824 True congenital diarrhea 6 congenital diarrhea UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0013826 MONDO:0019588 True autosomal recessive nonsyndromic hearing loss 86 hearing loss, autosomal recessive UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0013827 MONDO:0021022 True hyperekplexia 3 hereditary hyperekplexia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0013828 MONDO:0021022 True hyperekplexia 2 hereditary hyperekplexia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED MONDO:0013829 MONDO:0015797 True UV-sensitive syndrome 2 UV-sensitive syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0013830 MONDO:0015486 True keratoconus 5 keratoconus UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0013831 MONDO:0015486 True keratoconus 6 keratoconus UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING @@ -7046,638 +11648,1050 @@ MONDO:0013832 MONDO:0015486 True keratoconus 8 keratoconus UNSUPPORTED-MISSING U MONDO:0013833 MONDO:0015486 True keratoconus 7 keratoconus UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0013834 MONDO:0015797 True UV-sensitive syndrome 3 UV-sensitive syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0013835 MONDO:0000171 True muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7 muscular dystrophy-dystroglycanopathy, type A UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0013836 MONDO:0018151 True familial steroid-resistant nephrotic syndrome with sensorineural deafness coenzyme Q10 deficiency UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0013837 MONDO:0018151 True deafness-encephaloneuropathy-obesity-valvulopathy syndrome coenzyme Q10 deficiency UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0013838 MONDO:0018151 True coenzyme Q10 deficiency, primary, 3 coenzyme Q10 deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0013839 MONDO:0015364 True hereditary sensory and autonomic neuropathy type 6 hereditary sensory and autonomic neuropathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0013840 MONDO:0018151 True encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome coenzyme Q10 deficiency UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0013836 MONDO:0018151 True familial steroid-resistant nephrotic syndrome with sensorineural deafness coenzyme Q10 deficiency UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0013837 MONDO:0018151 True deafness-encephaloneuropathy-obesity-valvulopathy syndrome coenzyme Q10 deficiency UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0013838 MONDO:0018151 True coenzyme Q10 deficiency, primary, 3 coenzyme Q10 deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0013839 MONDO:0015364 True hereditary sensory and autonomic neuropathy type 6 hereditary sensory and autonomic neuropathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0013840 MONDO:0018151 True encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome coenzyme Q10 deficiency UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED MONDO:0013841 MONDO:0000723 True stuttering, familial persistent, 3 stutter disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0013842 MONDO:0000193 True cortisone reductase deficiency 2 cortisone reductase deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0013842 MONDO:0000193 True cortisone reductase deficiency 2 cortisone reductase deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED MONDO:0013844 MONDO:0000723 True stuttering, familial persistent, 4 stutter disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0013845 MONDO:0000107 True auriculocondylar syndrome 2 auriculocondylar syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0013847 MONDO:0016949 True chromosome 16p11.2 duplication syndrome partial duplication of the short arm of chromosome 16 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013848 MONDO:0016333 True dilated cardiomyopathy 2B familial dilated cardiomyopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0013849 MONDO:0016660 True microcephaly 8, primary, autosomal recessive autosomal recessive primary microcephaly UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0013849 MONDO:0016660 True microcephaly 8, primary, autosomal recessive autosomal recessive primary microcephaly UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED MONDO:0013851 MONDO:0000159 True autosomal dominant aplasia and myelodysplasia bone marrow failure syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0013852 MONDO:0024573 True hypertrophic cardiomyopathy 21 familial hypertrophic cardiomyopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0013854 MONDO:0016575 True primary ciliary dyskinesia 17 primary ciliary dyskinesia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0013860 MONDO:0005376 True idiopathic membranous glomerulonephritis membranous glomerulonephritis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013862 MONDO:0015517 True immunodeficiency, common variable, 7 common variable immunodeficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0013863 MONDO:0015517 True combined immunodeficiency due to LRBA deficiency common variable immunodeficiency UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0013864 MONDO:0016033 True Cornelia de Lange syndrome 4 Cornelia de Lange syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0013865 MONDO:0000732 True mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency combined oxidative phosphorylation deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0013867 MONDO:0008891 True brown-Vialetto-van Laere syndrome 2 riboflavin transporter deficiency UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0013870 MONDO:0005501 True TMEM165-congenital disorder of glycosylation congenital disorder of glycosylation type II UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0013871 MONDO:0019342 True Seckel syndrome 6 Seckel syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0013873 MONDO:0002254 True IMAGe syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0013874 MONDO:0008733 True glucocorticoid deficiency 4 familial glucocorticoid deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0013875 MONDO:0017359 True 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome 3-methylglutaconic aciduria UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0013851 MONDO:0001713 True autosomal dominant aplasia and myelodysplasia inherited aplastic anemia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0013852 MONDO:0024573 True hypertrophic cardiomyopathy 21 familial hypertrophic cardiomyopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0013853 MONDO:0016396 True pontocerebellar hypoplasia type 1B pontocerebellar hypoplasia type 1 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0013854 MONDO:0016575 True primary ciliary dyskinesia 17 primary ciliary dyskinesia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0013858 MONDO:0020022 True pontine tegmental cap dysplasia central nervous system malformation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0013862 MONDO:0015517 True immunodeficiency, common variable, 7 common variable immunodeficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0013863 MONDO:0015517 True combined immunodeficiency due to LRBA deficiency common variable immunodeficiency UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0013864 MONDO:0016033 True Cornelia de Lange syndrome 4 Cornelia de Lange syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0013865 MONDO:0000732 True mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency combined oxidative phosphorylation deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0013867 MONDO:0008891 True brown-Vialetto-van Laere syndrome 2 riboflavin transporter deficiency UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0013869 MONDO:0019236 True adenine phosphoribosyltransferase deficiency inborn disorder of purine metabolism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0013870 MONDO:0005501 True TMEM165-congenital disorder of glycosylation congenital disorder of glycosylation type II UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0013870 MONDO:0017740 True TMEM165-congenital disorder of glycosylation disorder of protein N-glycosylation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0013871 MONDO:0019342 True Seckel syndrome 6 Seckel syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0013873 MONDO:0002254 True IMAGe syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0013874 MONDO:0008733 True glucocorticoid deficiency 4 familial glucocorticoid deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0013875 MONDO:0004069 True 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome inborn mitochondrial metabolism disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0013875 MONDO:0017359 True 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome 3-methylglutaconic aciduria UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0013875 MONDO:0018117 True 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome disorder of phospholipids, sphingolipids and fatty acids biosynthesis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0013877 MONDO:0004069 True mitochondrial pyruvate carrier deficiency inborn mitochondrial metabolism disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0013877 MONDO:0006025 True mitochondrial pyruvate carrier deficiency autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0013877 MONDO:0016789 True mitochondrial pyruvate carrier deficiency pyruvate metabolism disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013878 MONDO:0000148 True pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1 pulmonary fibrosis and/or bone marrow failure, telomere-related UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0013879 MONDO:0000148 True pulmonary fibrosis and/or bone marrow failure, Telomere-related, 2 pulmonary fibrosis and/or bone marrow failure, telomere-related UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0013881 MONDO:0017612 True pidermolysis bullosa, junctional 7, with interstitial lung disease and nephrotic syndrome junctional epidermolysis bullosa UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0013881 MONDO:0017612 True pidermolysis bullosa, junctional 7, with interstitial lung disease and nephrotic syndrome junctional epidermolysis bullosa UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0013882 MONDO:0016596 True hyperphosphatasia with intellectual disability syndrome 2 hyperphosphatasia-intellectual disability syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0013883 MONDO:0000182 True congenital myasthenic syndrome 13 congenital myasthenic syndrome with tubular aggregates UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0013884 MONDO:0100350 True neuronopathy, distal hereditary motor, type 5B neuronopathy, distal hereditary motor, type 5 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0013885 MONDO:0003847 True Malan overgrowth syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0013885 MONDO:0019716 True Malan overgrowth syndrome overgrowth syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0013886 MONDO:0019792 True cerebellar dysfunction with variable cognitive and behavioral abnormalities autosomal dominant cerebellar ataxia type I UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013887 MONDO:0018677 True heterotaxy, visceral, 6, autosomal visceral heterotaxy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0013888 MONDO:0003233 True tremor, hereditary essential, 4 essential tremor UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0013890 MONDO:0018947 True congenital myopathy with internal nuclei and atypical cores centronuclear myopathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0013888 MONDO:0003233 True tremor, hereditary essential, 4 essential tremor UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0013890 MONDO:0018947 True congenital myopathy with internal nuclei and atypical cores centronuclear myopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED MONDO:0013891 MONDO:0005144 True amyotrophic lateral sclerosis type 18 familial amyotrophic lateral sclerosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0013892 MONDO:0018013 True C3 glomerulonephritis non-immunoglobulin-mediated membranoproliferative glomerulonephritis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013893 MONDO:0007462 True multiple sclerosis, susceptibility to, 5 multiple sclerosis, susceptibility to UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0013895 MONDO:0007034 True Adams-Oliver syndrome 3 Adams-Oliver syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0013896 MONDO:0018772 True Joubert syndrome 18 Joubert syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0013897 MONDO:0018954 True Loeys-Dietz syndrome 4 Loeys-Dietz syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0013898 MONDO:0001085 True karyomegalic interstitial nephritis interstitial nephritis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0013896 MONDO:0018772 True Joubert syndrome 18 Joubert syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0013897 MONDO:0018954 True Loeys-Dietz syndrome 4 Loeys-Dietz syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0013898 MONDO:0001085 True karyomegalic interstitial nephritis interstitial nephritis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0013899 MONDO:0018096 True Weill-Marchesani syndrome 3 Weill-Marchesani syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0013900 MONDO:0016241 True alternating hemiplegia of childhood 2 alternating hemiplegia of childhood UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0013901 MONDO:0004983 True spermatogenic failure 10 spermatogenic failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0013902 MONDO:0007194 True aortic valve disease 2 familial bicuspid aortic valve UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0013903 MONDO:0005712 True nystagmus 7, congenital, autosomal dominant congenital nystagmus UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0013901 MONDO:0004983 True spermatogenic failure 10 spermatogenic failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0013902 MONDO:0007194 True aortic valve disease 2 familial bicuspid aortic valve UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0013903 MONDO:0005712 True nystagmus 7, congenital, autosomal dominant congenital nystagmus UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED MONDO:0013904 MONDO:0000171 True muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 muscular dystrophy-dystroglycanopathy, type A UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0013912 MONDO:0018555 True hypogonadotropic hypogonadism 10 with or without anosmia hypogonadotropic hypogonadism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0013914 MONDO:0018555 True hypogonadotropic hypogonadism 12 with or without anosmia hypogonadotropic hypogonadism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0013915 MONDO:0018555 True hypogonadotropic hypogonadism 13 with or without anosmia hypogonadotropic hypogonadism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0013916 MONDO:0019005 True nephronophthisis 14 nephronophthisis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0013917 MONDO:0019005 True nephronophthisis 15 nephronophthisis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0013922 MONDO:0019342 True Seckel syndrome 7 Seckel syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0013923 MONDO:0016660 True microcephaly 9, primary, autosomal recessive autosomal recessive primary microcephaly UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0013924 MONDO:0019019 True osteogenesis imperfecta type 13 osteogenesis imperfecta UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0013925 MONDO:0016826 True methylmalonic acidemia with homocystinuria, type cblJ methylmalonic aciduria and homocystinuria UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0013929 MONDO:0019588 True autosomal recessive nonsyndromic hearing loss 98 hearing loss, autosomal recessive UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0013940 MONDO:0016575 True primary ciliary dyskinesia 18 primary ciliary dyskinesia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0013963 MONDO:0019588 True autosomal recessive nonsyndromic hearing loss 93 hearing loss, autosomal recessive UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0013964 MONDO:0015253 True Diamond-Blackfan anemia 11 Diamond-Blackfan anemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0013965 MONDO:0017436 True lethal congenital contracture syndrome 4 lethal congenital contracture syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0013966 MONDO:0017990 True catecholaminergic polymorphic ventricular tachycardia 4 catecholaminergic polymorphic ventricular tachycardia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0013968 MONDO:0005500 True PGM1-congenital disorder of glycosylation congenital disorder of glycosylation type I UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0013969 MONDO:0000732 True combined oxidative phosphorylation defect type 11 combined oxidative phosphorylation deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0013971 MONDO:0000732 True leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome combined oxidative phosphorylation deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0013972 MONDO:0017312 True Perrault syndrome 2 Perrault syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0013973 MONDO:0019287 True ectodermal dysplasia 5, hair/nail type ectodermal dysplasia syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0013977 MONDO:0000732 True combined oxidative phosphorylation defect type 13 combined oxidative phosphorylation deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0013978 MONDO:0019588 True autosomal recessive nonsyndromic hearing loss 70 hearing loss, autosomal recessive UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0013979 MONDO:0016575 True primary ciliary dyskinesia 19 primary ciliary dyskinesia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0013984 MONDO:0019588 True autosomal recessive nonsyndromic hearing loss 84B hearing loss, autosomal recessive UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0013985 MONDO:0019588 True autosomal recessive nonsyndromic hearing loss 18B hearing loss, autosomal recessive UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0013986 MONDO:0000732 True combined oxidative phosphorylation defect type 14 combined oxidative phosphorylation deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0013987 MONDO:0000732 True combined oxidative phosphorylation defect type 15 combined oxidative phosphorylation deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0013989 MONDO:0100062 True developmental and epileptic encephalopathy, 14 developmental and epileptic encephalopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0013990 MONDO:0020135 True pontocerebellar hypoplasia type 8 pontocerebellar hypoplasia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0013993 MONDO:0020135 True pontocerebellar hypoplasia type 7 pontocerebellar hypoplasia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0013994 MONDO:0018772 True Joubert syndrome 20 Joubert syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0013997 MONDO:0018363 True focal facial dermal dysplasia type IV focal facial dermal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0013905 MONDO:0018189 True autosomal recessive spinocerebellar ataxia 13 autosomal recessive cerebellar ataxia - pyramidal signs - nystagmus - oculomotor apraxia syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0013907 MONDO:0017091 True bilateral generalized polymicrogyria bilateral polymicrogyria UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0013912 MONDO:0018555 True hypogonadotropic hypogonadism 10 with or without anosmia hypogonadotropic hypogonadism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0013914 MONDO:0018555 True hypogonadotropic hypogonadism 12 with or without anosmia hypogonadotropic hypogonadism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0013915 MONDO:0018555 True hypogonadotropic hypogonadism 13 with or without anosmia hypogonadotropic hypogonadism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0013916 MONDO:0019005 True nephronophthisis 14 nephronophthisis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0013917 MONDO:0019005 True nephronophthisis 15 nephronophthisis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0013918 MONDO:0017806 True distal tetrasomy 15q 15q overgrowth syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0013922 MONDO:0019342 True Seckel syndrome 7 Seckel syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0013923 MONDO:0016660 True microcephaly 9, primary, autosomal recessive autosomal recessive primary microcephaly UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0013924 MONDO:0019019 True osteogenesis imperfecta type 13 osteogenesis imperfecta UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0013925 MONDO:0016826 True methylmalonic acidemia with homocystinuria, type cblJ methylmalonic aciduria and homocystinuria UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0013928 MONDO:0000477 True dystonia 23 focal dystonia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0013928 MONDO:0015990 True dystonia 23 focal, segmental or multifocal dystonia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0013929 MONDO:0019588 True autosomal recessive nonsyndromic hearing loss 98 hearing loss, autosomal recessive UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0013934 MONDO:0015131 True combined immunodeficiency due to STK4 deficiency combined immunodeficiency UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0013935 MONDO:0010168 True Usher syndrome type 1J Usher syndrome type 1 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0013940 MONDO:0016575 True primary ciliary dyskinesia 18 primary ciliary dyskinesia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0013944 MONDO:0019751 True autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation autoinflammatory syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0013947 MONDO:0001516 True neuronopathy, distal hereditary motor, autosomal recessive 5 spinal muscular atrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0013947 MONDO:0015363 True neuronopathy, distal hereditary motor, autosomal recessive 5 neuronopathy, distal hereditary motor, autosomal recessive UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0013953 MONDO:0003778 True immunodeficiency 28 inborn error of immunity UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0013954 MONDO:0019146 True Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency inherited susceptibility to mycobacterial diseases UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0013955 MONDO:0019146 True Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency inherited susceptibility to mycobacterial diseases UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0013956 MONDO:0019146 True Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency inherited susceptibility to mycobacterial diseases UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0013957 MONDO:0019146 True Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency inherited susceptibility to mycobacterial diseases UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0013959 MONDO:0018995 True Charcot-Marie-Tooth disease type 4F Charcot-Marie-Tooth disease type 4 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0013962 MONDO:0015150 True hereditary spastic paraplegia 53 complex hereditary spastic paraplegia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0013963 MONDO:0019588 True autosomal recessive nonsyndromic hearing loss 93 hearing loss, autosomal recessive UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0013964 MONDO:0015253 True Diamond-Blackfan anemia 11 Diamond-Blackfan anemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0013965 MONDO:0017436 True lethal congenital contracture syndrome 4 lethal congenital contracture syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0013966 MONDO:0017990 True catecholaminergic polymorphic ventricular tachycardia 4 catecholaminergic polymorphic ventricular tachycardia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0013968 MONDO:0005500 True PGM1-congenital disorder of glycosylation congenital disorder of glycosylation type I UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0013968 MONDO:0016333 True PGM1-congenital disorder of glycosylation familial dilated cardiomyopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0013968 MONDO:0017740 True PGM1-congenital disorder of glycosylation disorder of protein N-glycosylation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0013969 MONDO:0000732 True combined oxidative phosphorylation defect type 11 combined oxidative phosphorylation deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0013970 MONDO:0006025 True branched-chain keto acid dehydrogenase kinase deficiency autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0013970 MONDO:0019242 True branched-chain keto acid dehydrogenase kinase deficiency inborn disorder of branched-chain amino acid metabolism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0013971 MONDO:0000732 True leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome combined oxidative phosphorylation deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0013971 MONDO:0019046 True leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome leukodystrophy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS +MONDO:0013972 MONDO:0017312 True Perrault syndrome 2 Perrault syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0013973 MONDO:0019287 True ectodermal dysplasia 5, hair/nail type ectodermal dysplasia syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0013974 MONDO:0019071 True ectodermal dysplasia 6, hair/nail type pure hair and nail ectodermal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0013975 MONDO:0019071 True ectodermal dysplasia 7, hair/nail type pure hair and nail ectodermal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0013976 MONDO:0019071 True ectodermal dysplasia 9, hair/nail type pure hair and nail ectodermal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0013977 MONDO:0000732 True combined oxidative phosphorylation defect type 13 combined oxidative phosphorylation deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0013978 MONDO:0019588 True autosomal recessive nonsyndromic hearing loss 70 hearing loss, autosomal recessive UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0013979 MONDO:0016575 True primary ciliary dyskinesia 19 primary ciliary dyskinesia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0013984 MONDO:0019588 True autosomal recessive nonsyndromic hearing loss 84B hearing loss, autosomal recessive UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0013985 MONDO:0019588 True autosomal recessive nonsyndromic hearing loss 18B hearing loss, autosomal recessive UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0013986 MONDO:0000732 True combined oxidative phosphorylation defect type 14 combined oxidative phosphorylation deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0013987 MONDO:0000732 True combined oxidative phosphorylation defect type 15 combined oxidative phosphorylation deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0013989 MONDO:0100062 True developmental and epileptic encephalopathy, 14 developmental and epileptic encephalopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0013990 MONDO:0020135 True pontocerebellar hypoplasia type 8 pontocerebellar hypoplasia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0013991 MONDO:0015770 True obesity due to congenital leptin deficiency congenital hypogonadotropic hypogonadism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0013991 MONDO:0019182 True obesity due to congenital leptin deficiency inherited obesity UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0013992 MONDO:0015770 True obesity due to leptin receptor gene deficiency congenital hypogonadotropic hypogonadism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0013992 MONDO:0019182 True obesity due to leptin receptor gene deficiency inherited obesity UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0013993 MONDO:0020135 True pontocerebellar hypoplasia type 7 pontocerebellar hypoplasia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0013994 MONDO:0018772 True Joubert syndrome 20 Joubert syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0013995 MONDO:0100429 True cholestasis, intrahepatic, of pregnancy, 3 intrahepatic cholestasis of pregnancy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0013997 MONDO:0018363 True focal facial dermal dysplasia type IV focal facial dermal dysplasia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0013998 MONDO:0019012 True MEGF8-related Carpenter syndrome Carpenter syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0014001 MONDO:0010168 True Usher syndrome type 1K Usher syndrome type 1 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0014002 MONDO:0000030 True autosomal dominant nocturnal frontal lobe epilepsy 5 sleep-related hypermotor epilepsy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0014003 MONDO:0100062 True developmental and epileptic encephalopathy, 15 developmental and epileptic encephalopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0014002 MONDO:0020300 True autosomal dominant nocturnal frontal lobe epilepsy 5 autosomal dominant nocturnal frontal lobe epilepsy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0014003 MONDO:0100062 True developmental and epileptic encephalopathy, 15 developmental and epileptic encephalopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED MONDO:0014004 MONDO:0008947 True basal ganglia calcification, idiopathic, 4 bilateral striopallidodentate calcinosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0014005 MONDO:0002350 True immunoglobulin-mediated membranoproliferative glomerulonephritis familial nephrotic syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0014005 MONDO:0018904 True immunoglobulin-mediated membranoproliferative glomerulonephritis primary membranoproliferative glomerulonephritis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014006 MONDO:0015159 True Schuurs-Hoeijmakers syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014006 MONDO:0100172 True Schuurs-Hoeijmakers syndrome intellectual disability, autosomal dominant UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0014007 MONDO:0018866 True Aicardi-Goutieres syndrome 6 Aicardi-Goutieres syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0014014 MONDO:0017610 True epidermolysis bullosa simplex 4, localized or generalized intermediate, autosomal recessive epidermolysis bullosa simplex UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0014015 MONDO:0019064 True hereditary spastic paraplegia 56 hereditary spastic paraplegia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0014012 MONDO:0018993 True Charcot-Marie-Tooth disease axonal type 2Q Charcot-Marie-Tooth disease type 2 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0014013 MONDO:0017757 True maternal riboflavin deficiency disorder of metabolite absorption and transport UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014014 MONDO:0017610 True epidermolysis bullosa simplex 4, localized or generalized intermediate, autosomal recessive epidermolysis bullosa simplex UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0014015 MONDO:0019064 True hereditary spastic paraplegia 56 hereditary spastic paraplegia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0014016 MONDO:0015150 True hereditary spastic paraplegia 49 complex hereditary spastic paraplegia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014017 MONDO:0020836 True intellectual developmental disorder with autism and macrocephaly autism, susceptiblity to UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0014021 MONDO:0018319 True familial episodic pain syndrome with predominantly upper body involvement familial episodic pain syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0014018 MONDO:0015150 True hereditary spastic paraplegia 54 complex hereditary spastic paraplegia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014019 MONDO:0015990 True dystonia 24 focal, segmental or multifocal dystonia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014020 MONDO:0015150 True hereditary spastic paraplegia 55 complex hereditary spastic paraplegia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014020 MONDO:0016387 True hereditary spastic paraplegia 55 mitochondrial oxidative phosphorylation disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014021 MONDO:0018319 True familial episodic pain syndrome with predominantly upper body involvement familial episodic pain syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED MONDO:0014022 MONDO:0000171 True muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 10 muscular dystrophy-dystroglycanopathy, type A UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0014023 MONDO:0005500 True congenital muscular dystrophy with intellectual disability and severe epilepsy congenital disorder of glycosylation type I UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0014026 MONDO:0016293 True congenital stationary night blindness 1F congenital stationary night blindness UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0014027 MONDO:0003037 True hypotrichosis 11 hypotrichosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0014028 MONDO:0019942 True distal arthrogryposis type 5D distal arthrogryposis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0014030 MONDO:0016575 True primary ciliary dyskinesia 20 primary ciliary dyskinesia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0014023 MONDO:0005500 True congenital muscular dystrophy with intellectual disability and severe epilepsy congenital disorder of glycosylation type I UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0014023 MONDO:0017749 True congenital muscular dystrophy with intellectual disability and severe epilepsy disorder of multiple glycosylation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014023 MONDO:0018276 True congenital muscular dystrophy with intellectual disability and severe epilepsy muscular dystrophy-dystroglycanopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0014024 MONDO:0015150 True hereditary spastic paraplegia 43 complex hereditary spastic paraplegia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014026 MONDO:0016293 True congenital stationary night blindness 1F congenital stationary night blindness UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0014027 MONDO:0003037 True hypotrichosis 11 hypotrichosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0014028 MONDO:0019942 True distal arthrogryposis type 5D distal arthrogryposis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0014030 MONDO:0016575 True primary ciliary dyskinesia 20 primary ciliary dyskinesia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0014032 MONDO:0021004 True brachydactyly type A1C brachydactyly UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0014033 MONDO:0000478 True dystonia 25 multifocal dystonia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0014033 MONDO:0015990 True dystonia 25 focal, segmental or multifocal dystonia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014034 MONDO:0015159 True severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014034 MONDO:0100172 True severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome intellectual disability, autosomal dominant UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0014037 MONDO:0004983 True spermatogenic failure 11 spermatogenic failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0014039 MONDO:0018158 True mitochondrial DNA depletion syndrome 11 mitochondrial DNA depletion syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0014040 MONDO:0019026 True autosomal recessive osteopetrosis 8 autosomal recessive osteopetrosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0014035 MONDO:0015159 True severe intellectual disability-progressive spastic diplegia syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014036 MONDO:0004975 True Alzheimer disease 17 Alzheimer disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0014037 MONDO:0004983 True spermatogenic failure 11 spermatogenic failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0014039 MONDO:0018158 True mitochondrial DNA depletion syndrome 11 mitochondrial DNA depletion syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0014040 MONDO:0019026 True autosomal recessive osteopetrosis 8 autosomal recessive osteopetrosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0014041 MONDO:0020836 True autism, susceptibility to, 19 autism, susceptiblity to UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0014042 MONDO:0018901 True left ventricular noncompaction 7 left ventricular noncompaction UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0014043 MONDO:0016660 True microcephalic primordial dwarfism due to ZNF335 deficiency autosomal recessive primary microcephaly UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0014046 MONDO:0016063 True Cowden syndrome 4 Cowden disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0014047 MONDO:0016063 True Cowden syndrome 5 Cowden disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0014048 MONDO:0016063 True Cowden syndrome 6 Cowden disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0014042 MONDO:0018901 True left ventricular noncompaction 7 left ventricular noncompaction UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0014043 MONDO:0016660 True microcephalic primordial dwarfism due to ZNF335 deficiency autosomal recessive primary microcephaly UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0014046 MONDO:0016063 True Cowden syndrome 4 Cowden disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0014047 MONDO:0016063 True Cowden syndrome 5 Cowden disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0014048 MONDO:0016063 True Cowden syndrome 6 Cowden disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED MONDO:0014049 MONDO:0000463 True urofacial syndrome 2 Ochoa syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0014050 MONDO:0000062 True isolated microphthalmia 8 isolated microphthalmia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0014054 MONDO:0016537 True lymphoproliferative syndrome 2 lymphoproliferative syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0014055 MONDO:0000160 True epilepsy, familial adult myoclonic, 4 epilepsy, familial adult myoclonic UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0014050 MONDO:0000062 True isolated microphthalmia 8 isolated microphthalmia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0014051 MONDO:0015487 True cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2 fatal infantile encephalocardiomyopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0014054 MONDO:0016537 True lymphoproliferative syndrome 2 lymphoproliferative syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0014055 MONDO:0000160 True epilepsy, familial adult myoclonic, 4 epilepsy, familial adult myoclonic UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED MONDO:0014056 MONDO:0024462 True melanoma, cutaneous malignant, susceptibility to, 9 susceptibility to familial cutaneous melanoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0014057 MONDO:0009563 True maple syrup urine disease, mild variant maple syrup urine disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0014059 MONDO:0000170 True microphthalmia, isolated, with coloboma 9 microphthalmia, isolated, with coloboma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0014060 MONDO:0019118 True progressive retinal dystrophy due to retinol transport defect inherited retinal dystrophy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014062 MONDO:0000090 True mitochondrial DNA deletion syndrome with progressive myopathy progressive external ophthalmoplegia with mitochondrial DNA deletions UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0014063 MONDO:0020811 True mitochondrial complex III deficiency nuclear type 2 mitochondrial complex III deficiency, nuclear type UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0014064 MONDO:0020811 True mitochondrial complex III deficiency nuclear type 3 mitochondrial complex III deficiency, nuclear type UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0014065 MONDO:0020811 True mitochondrial complex III deficiency nuclear type 4 mitochondrial complex III deficiency, nuclear type UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0014066 MONDO:0020811 True mitochondrial complex III deficiency nuclear type 5 mitochondrial complex III deficiency, nuclear type UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0014068 MONDO:0015993 True cone-rod dystrophy 17 cone-rod dystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0014070 MONDO:0018910 True oculocutaneous albinism type 7 oculocutaneous albinism UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0014067 MONDO:0015159 True short ulna-dysmorphism-hypotonia-intellectual disability syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014068 MONDO:0015993 True cone-rod dystrophy 17 cone-rod dystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0014069 MONDO:0019054 True syndactyly-camptodactyly and clinodactyly of fifth fingers-bifid toes syndrome congenital limb malformation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014070 MONDO:0018910 True oculocutaneous albinism type 7 oculocutaneous albinism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED MONDO:0014071 MONDO:0000171 True muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11 muscular dystrophy-dystroglycanopathy, type A UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0014072 MONDO:0016001 True D,L-2-hydroxyglutaric aciduria 2-hydroxyglutaric aciduria UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0014073 MONDO:0016333 True dilated cardiomyopathy 1II familial dilated cardiomyopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0014078 MONDO:0000009 True platelet-type bleeding disorder 15 inherited bleeding disorder, platelet-type UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0014074 MONDO:0019548 True Charcot-Marie-Tooth disease dominant intermediate F autosomal dominant intermediate Charcot-Marie-Tooth disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014076 MONDO:0006025 True dyskeratosis congenita, autosomal recessive 5 autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0014077 MONDO:0018869 True cobblestone lissencephaly without muscular or ocular involvement cobblestone lissencephaly UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014078 MONDO:0000009 True platelet-type bleeding disorder 15 inherited bleeding disorder, platelet-type UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED MONDO:0014079 MONDO:0100170 True restless legs syndrome, susceptibility to, 8 restless legs syndrome, susceptibility to UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0014080 MONDO:0017198 True osteosclerotic metaphyseal dysplasia osteopetrosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0014081 MONDO:0044201 True severe combined immunodeficiency due to CARD11 deficiency T+ B+ severe combined immunodeficiency UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014082 MONDO:0021094 True cryptosporidiosis-chronic cholangitis-liver disease syndrome immunodeficiency disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0014084 MONDO:0015244 True ataxia with oculomotor apraxia type 3 autosomal recessive cerebellar ataxia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED MONDO:0014085 MONDO:0016349 True hydrocephalus, nonsyndromic, autosomal recessive 2 congenital hydrocephalus UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0014087 MONDO:0015799 True Smith-McCort dysplasia 2 Smith-McCort dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0014088 MONDO:0015609 True advanced sleep phase syndrome 2 advanced sleep phase syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0014093 MONDO:0019200 True retinitis pigmentosa 66 retinitis pigmentosa UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0014087 MONDO:0015799 True Smith-McCort dysplasia 2 Smith-McCort dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0014088 MONDO:0015609 True advanced sleep phase syndrome 2 advanced sleep phase syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0014089 MONDO:0017666 True corneal intraepithelial dyskeratosis-palmoplantar hyperkeratosis-laryngeal dyskeratosis syndrome diffuse palmoplantar keratoderma UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014089 MONDO:0020212 True corneal intraepithelial dyskeratosis-palmoplantar hyperkeratosis-laryngeal dyskeratosis syndrome superficial corneal dystrophy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014093 MONDO:0019200 True retinitis pigmentosa 66 retinitis pigmentosa UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED MONDO:0014094 MONDO:0000104 True severe congenital hypochromic anemia with ringed sideroblasts anemia, hypochromic microcytic with iron overload UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0014094 MONDO:0016624 True severe congenital hypochromic anemia with ringed sideroblasts inherited deficiency anemia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014094 MONDO:0020099 True severe congenital hypochromic anemia with ringed sideroblasts inherited sideroblastic anemia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0014095 MONDO:0016333 True dilated cardiomyopathy 1JJ familial dilated cardiomyopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0014098 MONDO:0020088 True CIDEC-related familial partial lipodystrophy familial partial lipodystrophy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0014098 MONDO:0020088 True CIDEC-related familial partial lipodystrophy familial partial lipodystrophy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED MONDO:0014100 MONDO:0016333 True dilated cardiomyopathy 1KK familial dilated cardiomyopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0014100 MONDO:0016340 True dilated cardiomyopathy 1KK familial restrictive cardiomyopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0014100 MONDO:0024573 True dilated cardiomyopathy 1KK familial hypertrophic cardiomyopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS MONDO:0014101 MONDO:0000171 True muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12 muscular dystrophy-dystroglycanopathy, type A UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS MONDO:0014104 MONDO:0009133 True cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 4 cerebellar ataxia, intellectual disability, and dysequilibrium UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0014108 MONDO:0019391 True Fanconi anemia complementation group Q Fanconi anemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0014112 MONDO:0015280 True cardiofaciocutaneous syndrome 2 cardiofaciocutaneous syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0014113 MONDO:0015280 True cardiofaciocutaneous syndrome 3 cardiofaciocutaneous syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0014114 MONDO:0015280 True cardiofaciocutaneous syndrome 4 cardiofaciocutaneous syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0014116 MONDO:0000904 True complex cortical dysplasia with other brain malformations 2 complex cortical dysplasia with other brain malformations UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0014108 MONDO:0019391 True Fanconi anemia complementation group Q Fanconi anemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0014112 MONDO:0015280 True cardiofaciocutaneous syndrome 2 cardiofaciocutaneous syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0014113 MONDO:0015280 True cardiofaciocutaneous syndrome 3 cardiofaciocutaneous syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0014114 MONDO:0015280 True cardiofaciocutaneous syndrome 4 cardiofaciocutaneous syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0014115 MONDO:0019046 True hypomyelination with brain stem and spinal cord involvement and leg spasticity leukodystrophy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0014116 MONDO:0000904 True complex cortical dysplasia with other brain malformations 2 complex cortical dysplasia with other brain malformations UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0014117 MONDO:0018995 True Charcot-Marie-Tooth disease type 4B3 Charcot-Marie-Tooth disease type 4 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0014119 MONDO:0003847 True intellectual disability-strabismus syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0014120 MONDO:0000171 True muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13 muscular dystrophy-dystroglycanopathy, type A UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0014121 MONDO:0018190 True autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures autosomal dominant childhood-onset proximal spinal muscular atrophy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0014121 MONDO:0018190 True autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures autosomal dominant childhood-onset proximal spinal muscular atrophy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED MONDO:0014122 MONDO:0016824 True myofibromatosis, infantile, 2 infantile myofibromatosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0014123 MONDO:0016575 True primary ciliary dyskinesia 21 primary ciliary dyskinesia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0014123 MONDO:0016575 True primary ciliary dyskinesia 21 primary ciliary dyskinesia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED MONDO:0014124 MONDO:0007034 True Adams-Oliver syndrome 4 Adams-Oliver syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0014125 MONDO:0008511 True symphalangism, proximal, 1B proximal symphalangism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0014125 MONDO:0008511 True symphalangism, proximal, 1B proximal symphalangism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED MONDO:0014126 MONDO:0017312 True Perrault syndrome 4 Perrault syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0014127 MONDO:0018910 True oculocutaneous albinism type 5 oculocutaneous albinism UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0014132 MONDO:0017338 True multiple mitochondrial dysfunctions syndrome 3 fatal multiple mitochondrial dysfunctions syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0014127 MONDO:0018910 True oculocutaneous albinism type 5 oculocutaneous albinism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0014131 MONDO:0017666 True hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome diffuse palmoplantar keratoderma UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014132 MONDO:0017338 True multiple mitochondrial dysfunctions syndrome 3 fatal multiple mitochondrial dysfunctions syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED MONDO:0014134 MONDO:0017148 True pulmonary hypertension, primary, 2 heritable pulmonary arterial hypertension UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0014135 MONDO:0017148 True pulmonary hypertension, primary, 3 heritable pulmonary arterial hypertension UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0014136 MONDO:0017148 True pulmonary hypertension, primary, 4 heritable pulmonary arterial hypertension UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0014137 MONDO:0019165 True precocious puberty, central, 2 central precocious puberty UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0014137 MONDO:0019165 True precocious puberty, central, 2 central precocious puberty UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED MONDO:0014140 MONDO:0000171 True muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14 muscular dystrophy-dystroglycanopathy, type A UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0014141 MONDO:0000172 True muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B14 muscular dystrophy-dystroglycanopathy, type B UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0014141 MONDO:0000172 True muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B14 muscular dystrophy-dystroglycanopathy, type B UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED MONDO:0014142 MONDO:0000173 True autosomal recessive limb-girdle muscular dystrophy type 2T muscular dystrophy-dystroglycanopathy, type C UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0014142 MONDO:0015152 True autosomal recessive limb-girdle muscular dystrophy type 2T autosomal recessive limb-girdle muscular dystrophy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0014143 MONDO:0018997 True Noonan syndrome 8 Noonan syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0014144 MONDO:0015152 True autosomal recessive limb-girdle muscular dystrophy type R18 autosomal recessive limb-girdle muscular dystrophy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0014145 MONDO:0018998 True Leber congenital amaurosis 17 Leber congenital amaurosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0014146 MONDO:0018543 True autosomal dominant hypocalcemia 2 autosomal dominant hypocalcemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0014142 MONDO:0015152 True autosomal recessive limb-girdle muscular dystrophy type 2T autosomal recessive limb-girdle muscular dystrophy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0014143 MONDO:0018997 True Noonan syndrome 8 Noonan syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0014144 MONDO:0015152 True autosomal recessive limb-girdle muscular dystrophy type R18 autosomal recessive limb-girdle muscular dystrophy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0014145 MONDO:0018998 True Leber congenital amaurosis 17 Leber congenital amaurosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0014146 MONDO:0018543 True autosomal dominant hypocalcemia 2 autosomal dominant hypocalcemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED MONDO:0014149 MONDO:0017436 True fetal akinesia-cerebral and retinal hemorrhage syndrome lethal congenital contracture syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0014149 MONDO:0019952 True fetal akinesia-cerebral and retinal hemorrhage syndrome congenital myopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0014152 MONDO:0018901 True left ventricular noncompaction 8 left ventricular noncompaction UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0014153 MONDO:0015993 True cone-rod dystrophy 18 cone-rod dystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0014153 MONDO:0015993 True cone-rod dystrophy 18 cone-rod dystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0014154 MONDO:0017058 True Charcot-Marie-Tooth disease recessive intermediate C autosomal recessive intermediate Charcot-Marie-Tooth disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014155 MONDO:0018054 True atrial fibrillation, familial, 13 familial atrial fibrillation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0014156 MONDO:0018054 True atrial fibrillation, familial, 14 familial atrial fibrillation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0014158 MONDO:0019005 True nephronophthisis 16 nephronophthisis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0014159 MONDO:0015244 True autosomal recessive spinocerebellar ataxia 14 autosomal recessive cerebellar ataxia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0014157 MONDO:0019303 True mandibular hypoplasia-deafness-progeroid syndrome premature aging syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014158 MONDO:0019005 True nephronophthisis 16 nephronophthisis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0014159 MONDO:0015244 True autosomal recessive spinocerebellar ataxia 14 autosomal recessive cerebellar ataxia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0014160 MONDO:0018814 True TCR-alpha-beta-positive T-cell deficiency non-SCID combined immunodeficiency UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014161 MONDO:0017329 True vesicoureteral reflux 7 familial vesicoureteral reflux UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0014162 MONDO:0000732 True infantile hypertrophic cardiomyopathy due to MRPL44 deficiency combined oxidative phosphorylation deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0014162 MONDO:0000732 True infantile hypertrophic cardiomyopathy due to MRPL44 deficiency combined oxidative phosphorylation deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED MONDO:0014163 MONDO:0018901 True left ventricular noncompaction 10 left ventricular noncompaction UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0014164 MONDO:0018921 True Meckel syndrome, type 11 Meckel syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0014165 MONDO:0100247 True multiple congenital anomalies-hypotonia-seizures syndrome 3 multiple congenital anomalies-hypotonia-seizures syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0014165 MONDO:0015327 True multiple congenital anomalies-hypotonia-seizures syndrome 3 developmental anomaly of metabolic origin UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014165 MONDO:0017748 True multiple congenital anomalies-hypotonia-seizures syndrome 3 inborn disorder of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014165 MONDO:0100247 True multiple congenital anomalies-hypotonia-seizures syndrome 3 multiple congenital anomalies-hypotonia-seizures syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED MONDO:0014166 MONDO:0100244 True paroxysmal nocturnal hemoglobinuria 2 paroxysmal nocturnal hemoglobinuria UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0014167 MONDO:0000160 True epilepsy, familial adult myoclonic, 5 epilepsy, familial adult myoclonic UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0014167 MONDO:0000160 True epilepsy, familial adult myoclonic, 5 epilepsy, familial adult myoclonic UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0014168 MONDO:0044200 True severe combined immunodeficiency due to CORO1A deficiency T-B+ severe combined immunodeficiency UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014169 MONDO:0000736 True dyschromatosis universalis hereditaria 3 dyschromatosis universalis hereditaria UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0014170 MONDO:0000904 True complex cortical dysplasia with other brain malformations 3 complex cortical dysplasia with other brain malformations UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0014171 MONDO:0000904 True complex cortical dysplasia with other brain malformations 4 complex cortical dysplasia with other brain malformations UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0014172 MONDO:0004983 True spermatogenic failure 12 spermatogenic failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0014173 MONDO:0016660 True microcephaly 11, primary, autosomal recessive autosomal recessive primary microcephaly UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0014170 MONDO:0000904 True complex cortical dysplasia with other brain malformations 3 complex cortical dysplasia with other brain malformations UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0014171 MONDO:0000904 True complex cortical dysplasia with other brain malformations 4 complex cortical dysplasia with other brain malformations UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0014172 MONDO:0004983 True spermatogenic failure 12 spermatogenic failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0014173 MONDO:0016660 True microcephaly 11, primary, autosomal recessive autosomal recessive primary microcephaly UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED MONDO:0014174 MONDO:0017417 True renal-hepatic-pancreatic dysplasia 2 renal-hepatic-pancreatic dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0014175 MONDO:0018158 True mitochondrial DNA depletion syndrome 12B (cardiomyopathic type), autosomal recessive mitochondrial DNA depletion syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0014175 MONDO:0018158 True mitochondrial DNA depletion syndrome 12B (cardiomyopathic type), autosomal recessive mitochondrial DNA depletion syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0014176 MONDO:0015159 True hypotonia, infantile, with psychomotor retardation and characteristic facies multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014176 MONDO:0024237 True hypotonia, infantile, with psychomotor retardation and characteristic facies inherited neurodegenerative disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014177 MONDO:0001384 True myopia 22, autosomal dominant myopia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0014178 MONDO:0000507 True inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 2 inclusion body myopathy with Paget disease of bone and frontotemporal dementia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0014179 MONDO:0000507 True inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 3 inclusion body myopathy with Paget disease of bone and frontotemporal dementia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0014180 MONDO:0017610 True epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency epidermolysis bullosa simplex UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0014178 MONDO:0000507 True inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 2 inclusion body myopathy with Paget disease of bone and frontotemporal dementia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0014179 MONDO:0000507 True inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 3 inclusion body myopathy with Paget disease of bone and frontotemporal dementia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0014180 MONDO:0017610 True epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency epidermolysis bullosa simplex UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0014181 MONDO:0005144 True amyotrophic lateral sclerosis type 20 familial amyotrophic lateral sclerosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0014182 MONDO:0019588 True autosomal recessive nonsyndromic hearing loss 88 hearing loss, autosomal recessive UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0014182 MONDO:0019588 True autosomal recessive nonsyndromic hearing loss 88 hearing loss, autosomal recessive UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED MONDO:0014183 MONDO:0001384 True myopia 23, autosomal recessive myopia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0014184 MONDO:0000724 True specific language impairment 5 specific language impairment UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0014186 MONDO:0019200 True retinitis pigmentosa with or without situs inversus retinitis pigmentosa UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0014185 MONDO:0016902 True chromosome 3q13.31 deletion syndrome partial deletion of the long arm of chromosome 3 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014186 MONDO:0019200 True retinitis pigmentosa with or without situs inversus retinitis pigmentosa UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED MONDO:0014187 MONDO:0019625 True aortic aneurysm, familial thoracic 8 familial thoracic aortic aneurysm and aortic dissection UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0014190 MONDO:0000732 True combined oxidative phosphorylation defect type 17 combined oxidative phosphorylation deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0014191 MONDO:0017990 True catecholaminergic polymorphic ventricular tachycardia 5 catecholaminergic polymorphic ventricular tachycardia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0014192 MONDO:0016575 True primary ciliary dyskinesia 22 primary ciliary dyskinesia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0014193 MONDO:0016575 True primary ciliary dyskinesia 23 primary ciliary dyskinesia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0014190 MONDO:0000732 True combined oxidative phosphorylation defect type 17 combined oxidative phosphorylation deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0014191 MONDO:0017990 True catecholaminergic polymorphic ventricular tachycardia 5 catecholaminergic polymorphic ventricular tachycardia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0014192 MONDO:0016575 True primary ciliary dyskinesia 22 primary ciliary dyskinesia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0014193 MONDO:0016575 True primary ciliary dyskinesia 23 primary ciliary dyskinesia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED MONDO:0014194 MONDO:0020811 True mitochondrial complex III deficiency nuclear type 6 mitochondrial complex III deficiency, nuclear type UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0014196 MONDO:0015159 True Hartsfield-Bixler-Demyer syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014197 MONDO:0021094 True combined immunodeficiency due to MALT1 deficiency immunodeficiency disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0014199 MONDO:0100062 True developmental and epileptic encephalopathy, 17 developmental and epileptic encephalopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0014201 MONDO:0100062 True developmental and epileptic encephalopathy, 18 developmental and epileptic encephalopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0014202 MONDO:0016575 True primary ciliary dyskinesia 24 primary ciliary dyskinesia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0014203 MONDO:0016575 True primary ciliary dyskinesia 25 primary ciliary dyskinesia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0014198 MONDO:0016796 True mitochondrial DNA depletion syndrome 13 mitochondrial DNA depletion syndrome, encephalomyopathic form UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014199 MONDO:0100062 True developmental and epileptic encephalopathy, 17 developmental and epileptic encephalopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0014200 MONDO:0016525 True aldosterone-producing adenoma with seizures and neurological abnormalities familial hyperaldosteronism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0014201 MONDO:0100062 True developmental and epileptic encephalopathy, 18 developmental and epileptic encephalopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0014202 MONDO:0016575 True primary ciliary dyskinesia 24 primary ciliary dyskinesia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0014203 MONDO:0016575 True primary ciliary dyskinesia 25 primary ciliary dyskinesia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED MONDO:0014204 MONDO:0008947 True basal ganglia calcification, idiopathic, 5 bilateral striopallidodentate calcinosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0014207 MONDO:0005150 True age related macular degeneration 14 age-related macular degeneration UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0014209 MONDO:0019064 True early-onset progressive neurodegeneration-blindness-ataxia-spasticity syndrome hereditary spastic paraplegia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0014211 MONDO:0016575 True primary ciliary dyskinesia 26 primary ciliary dyskinesia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0014212 MONDO:0020480 True sulfite oxidase deficiency due to molybdenum cofactor deficiency type C sulfite oxidase deficiency due to molybdenum cofactor deficiency UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0014205 MONDO:0003847 True severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0014205 MONDO:0015159 True severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014207 MONDO:0005150 True age related macular degeneration 14 age-related macular degeneration UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0014208 MONDO:0018993 True Charcot-Marie-Tooth disease type 2R Charcot-Marie-Tooth disease type 2 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0014209 MONDO:0019064 True early-onset progressive neurodegeneration-blindness-ataxia-spasticity syndrome hereditary spastic paraplegia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0014210 MONDO:0003847 True intellectual disability-hypotonia-spasticity-sleep disorder syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0014211 MONDO:0016575 True primary ciliary dyskinesia 26 primary ciliary dyskinesia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0014212 MONDO:0020480 True sulfite oxidase deficiency due to molybdenum cofactor deficiency type C sulfite oxidase deficiency due to molybdenum cofactor deficiency UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0014213 MONDO:0015159 True intellectual disability-feeding difficulties-developmental delay-microcephaly syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014213 MONDO:0100172 True intellectual disability-feeding difficulties-developmental delay-microcephaly syndrome intellectual disability, autosomal dominant UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0014214 MONDO:0018770 True short-rib thoracic dysplasia 8 with or without polydactyly Jeune syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0014215 MONDO:0016575 True primary ciliary dyskinesia 27 primary ciliary dyskinesia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0014216 MONDO:0016575 True primary ciliary dyskinesia 28 primary ciliary dyskinesia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0014214 MONDO:0018770 True short-rib thoracic dysplasia 8 with or without polydactyly Jeune syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0014215 MONDO:0016575 True primary ciliary dyskinesia 27 primary ciliary dyskinesia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0014216 MONDO:0016575 True primary ciliary dyskinesia 28 primary ciliary dyskinesia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED MONDO:0014217 MONDO:0019180 True telangiectasia, hereditary hemorrhagic, type 5 hereditary hemorrhagic telangiectasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0014220 MONDO:0005336 True myopathy due to myoadenylate deaminase deficiency myopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014221 MONDO:0003689 True triosephosphate isomerase deficiency familial hemolytic anemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0014221 MONDO:0020585 True triosephosphate isomerase deficiency anemia due to erythrocyte enzyme disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014219 MONDO:0006025 True alacrima, achalasia, and intellectual disability syndrome autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0014221 MONDO:0002908 True triosephosphate isomerase deficiency glucose metabolism disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0014221 MONDO:0017688 True triosephosphate isomerase deficiency disorder of glycolysis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014223 MONDO:0005144 True amyotrophic lateral sclerosis type 19 familial amyotrophic lateral sclerosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0014225 MONDO:0006507 True hemochromatosis type 5 hereditary hemochromatosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0014225 MONDO:0006507 True hemochromatosis type 5 hereditary hemochromatosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED MONDO:0014226 MONDO:0021094 True idiopathic CD4 lymphocytopenia immunodeficiency disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0014228 MONDO:0005321 True corneal dystrophy, Fuchs endothelial, 8 Fuchs' endothelial dystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0014229 MONDO:0016073 True microphthalmia, syndromic 12 syndromic microphthalmia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0014229 MONDO:0016073 True microphthalmia, syndromic 12 syndromic microphthalmia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED MONDO:0014230 MONDO:0015279 True candidiasis, familial, 8 chronic mucocutaneous candidiasis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0014233 MONDO:0017279 True early-onset Parkinson disease 20 young-onset Parkinson disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0014234 MONDO:0000118 True reticulate acropigmentation of Kitamura reticulate pigment disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0014237 MONDO:0019588 True autosomal recessive nonsyndromic hearing loss 76 hearing loss, autosomal recessive UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0014234 MONDO:0019289 True reticulate acropigmentation of Kitamura hyperpigmentation of the skin UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014237 MONDO:0019588 True autosomal recessive nonsyndromic hearing loss 76 hearing loss, autosomal recessive UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0014238 MONDO:0003847 True severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0014238 MONDO:0015159 True severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014240 MONDO:0020341 True periventricular nodular heterotopia 6 periventricular nodular heterotopia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0014242 MONDO:0017813 True van Maldergem syndrome 2 van Maldergem syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0014244 MONDO:0015364 True hereditary sensory and autonomic neuropathy type 7 hereditary sensory and autonomic neuropathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0014245 MONDO:0015253 True Diamond-Blackfan anemia 12 Diamond-Blackfan anemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0014246 MONDO:0018319 True episodic pain syndrome, familial, 2 familial episodic pain syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0014247 MONDO:0002254 True familial episodic pain syndrome with predominantly lower limb involvement syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0014247 MONDO:0018319 True familial episodic pain syndrome with predominantly lower limb involvement familial episodic pain syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0014242 MONDO:0017813 True van Maldergem syndrome 2 van Maldergem syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0014244 MONDO:0015364 True hereditary sensory and autonomic neuropathy type 7 hereditary sensory and autonomic neuropathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0014245 MONDO:0015253 True Diamond-Blackfan anemia 12 Diamond-Blackfan anemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0014246 MONDO:0018319 True episodic pain syndrome, familial, 2 familial episodic pain syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0014247 MONDO:0018319 True familial episodic pain syndrome with predominantly lower limb involvement familial episodic pain syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0014248 MONDO:0015327 True autism spectrum disorder - epilepsy - arthrogryposis syndrome developmental anomaly of metabolic origin UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014248 MONDO:0017740 True autism spectrum disorder - epilepsy - arthrogryposis syndrome disorder of protein N-glycosylation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014248 MONDO:0019942 True autism spectrum disorder - epilepsy - arthrogryposis syndrome distal arthrogryposis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0014252 MONDO:0017774 True familial hypobetalipoproteinemia 1 hypobetalipoproteinemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0014254 MONDO:0008163 True otofaciocervical syndrome 2 otofaciocervical syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0014256 MONDO:0019200 True retinitis pigmentosa 67 retinitis pigmentosa UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0014260 MONDO:0015517 True immunodeficiency, common variable, 10 common variable immunodeficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0014261 MONDO:0000732 True growth and developmental delay-hypotonia-vision impairment-lactic acidosis syndrome combined oxidative phosphorylation deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0014262 MONDO:0018954 True Rienhoff syndrome Loeys-Dietz syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0014256 MONDO:0019200 True retinitis pigmentosa 67 retinitis pigmentosa UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0014258 MONDO:0019052 True congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome inborn errors of metabolism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014259 MONDO:0015352 True neuronopathy, distal hereditary motor, type 2D distal hereditary motor neuropathy type 2 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0014260 MONDO:0015517 True immunodeficiency, common variable, 10 common variable immunodeficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0014261 MONDO:0000732 True growth and developmental delay-hypotonia-vision impairment-lactic acidosis syndrome combined oxidative phosphorylation deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0014262 MONDO:0018954 True Rienhoff syndrome Loeys-Dietz syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0014263 MONDO:0015159 True 8q24.3 microdeletion syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014263 MONDO:0016907 True 8q24.3 microdeletion syndrome partial deletion of the long arm of chromosome 8 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014264 MONDO:0005349 True otosclerosis 10 otosclerosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0014265 MONDO:0004975 True Alzheimer disease 18 Alzheimer disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0014267 MONDO:0044201 True severe combined immunodeficiency due to IKK2 deficiency T+ B+ severe combined immunodeficiency UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014268 MONDO:0021094 True combined immunodeficiency due to OX40 deficiency immunodeficiency disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0014269 MONDO:0000732 True combined oxidative phosphorylation deficiency 19 combined oxidative phosphorylation deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0014270 MONDO:0005500 True STT3A-congenital disorder of glycosylation congenital disorder of glycosylation type I UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0014271 MONDO:0005500 True STT3B-congenital disorder of glycosylation congenital disorder of glycosylation type I UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0014269 MONDO:0000732 True combined oxidative phosphorylation deficiency 19 combined oxidative phosphorylation deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0014270 MONDO:0005500 True STT3A-congenital disorder of glycosylation congenital disorder of glycosylation type I UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0014270 MONDO:0017740 True STT3A-congenital disorder of glycosylation disorder of protein N-glycosylation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014271 MONDO:0005500 True STT3B-congenital disorder of glycosylation congenital disorder of glycosylation type I UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0014271 MONDO:0017740 True STT3B-congenital disorder of glycosylation disorder of protein N-glycosylation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014272 MONDO:0017666 True palmoplantar keratoderma, Nagashima type diffuse palmoplantar keratoderma UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014273 MONDO:0003847 True microcephaly-thin corpus callosum-intellectual disability syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0014273 MONDO:0015159 True microcephaly-thin corpus callosum-intellectual disability syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014274 MONDO:0005570 True L-ferritin deficiency hematologic disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014276 MONDO:0021094 True combined immunodeficiency due to CD3gamma deficiency immunodeficiency disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0014277 MONDO:0000158 True developmental dysplasia of the hip 2 developmental dysplasia of the hip UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0014283 MONDO:0019587 True autosomal dominant nonsyndromic hearing loss 56 autosomal dominant nonsyndromic hearing loss UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0014284 MONDO:0018770 True short-rib thoracic dysplasia 10 with or without polydactyly Jeune syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0014287 MONDO:0018770 True short-rib thoracic dysplasia 11 with or without polydactyly Jeune syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0014288 MONDO:0018772 True Joubert syndrome 21 Joubert syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0014290 MONDO:0018307 True neurodegeneration with brain iron accumulation 6 neurodegeneration with brain iron accumulation UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0014291 MONDO:0019587 True autosomal dominant nonsyndromic hearing loss 54 autosomal dominant nonsyndromic hearing loss UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0014293 MONDO:0019587 True autosomal dominant nonsyndromic hearing loss 58 autosomal dominant nonsyndromic hearing loss UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0014296 MONDO:0016649 True Warburg micro syndrome 4 Warburg micro syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0014297 MONDO:0018772 True Joubert syndrome 22 Joubert syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0014278 MONDO:0031520 True immunodeficiency 18 familial severe combined immunodeficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0014280 MONDO:0031520 True immunodeficiency 19 familial severe combined immunodeficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0014282 MONDO:0015149 True hereditary spastic paraplegia 72 pure hereditary spastic paraplegia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014283 MONDO:0019587 True autosomal dominant nonsyndromic hearing loss 56 autosomal dominant nonsyndromic hearing loss UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0014284 MONDO:0018770 True short-rib thoracic dysplasia 10 with or without polydactyly Jeune syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0014285 MONDO:0020337 True congenital dyserythropoietic anemia type type 1B congenital dyserythropoietic anemia type 1 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0014286 MONDO:0018213 True neuropathy, hereditary sensory, type 1F hereditary sensory and autonomic neuropathy type 1 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0014287 MONDO:0018770 True short-rib thoracic dysplasia 11 with or without polydactyly Jeune syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0014288 MONDO:0018772 True Joubert syndrome 21 Joubert syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0014289 MONDO:0003847 True macrocephaly-developmental delay syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0014289 MONDO:0015159 True macrocephaly-developmental delay syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014290 MONDO:0018307 True neurodegeneration with brain iron accumulation 6 neurodegeneration with brain iron accumulation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0014291 MONDO:0019587 True autosomal dominant nonsyndromic hearing loss 54 autosomal dominant nonsyndromic hearing loss UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0014292 MONDO:0019046 True leukoencephalopathy with mild cerebellar ataxia and white matter edema leukodystrophy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0014293 MONDO:0019587 True autosomal dominant nonsyndromic hearing loss 58 autosomal dominant nonsyndromic hearing loss UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0014294 MONDO:0016913 True chromosome 15q11.2 deletion syndrome partial deletion of the long arm of chromosome 15 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014295 MONDO:0015150 True hereditary spastic paraplegia 57 complex hereditary spastic paraplegia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014296 MONDO:0016649 True Warburg micro syndrome 4 Warburg micro syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0014297 MONDO:0018772 True Joubert syndrome 22 Joubert syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0014298 MONDO:0015159 True chromosome 5q12 deletion syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014299 MONDO:0008075 True schwannomatosis 2 schwannomatosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0014308 MONDO:0005115 True familial temporal lobe epilepsy 6 temporal lobe epilepsy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0014300 MONDO:0005336 True proximal myopathy with extrapyramidal signs myopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0014302 MONDO:0015149 True hereditary spastic paraplegia 62 pure hereditary spastic paraplegia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014303 MONDO:0015150 True hereditary spastic paraplegia 64 complex hereditary spastic paraplegia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014304 MONDO:0015150 True hereditary spastic paraplegia 61 complex hereditary spastic paraplegia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014305 MONDO:0015150 True hereditary spastic paraplegia 63 complex hereditary spastic paraplegia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014306 MONDO:0018882 True vasculitis due to ADA2 deficiency vasculitis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014308 MONDO:0005115 True familial temporal lobe epilepsy 6 temporal lobe epilepsy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0014309 MONDO:0019182 True obesity due to CEP19 deficiency inherited obesity UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0014310 MONDO:0016382 True hereditary sclerosing poikiloderma with tendon and pulmonary involvement hereditary poikiloderma UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014311 MONDO:0018446 True autosomal recessive spinocerebellar ataxia 15 autosomal recessive cerebellar ataxia - epilepsy - intellectual disability syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014312 MONDO:0000107 True auriculocondylar syndrome 3 auriculocondylar syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0014313 MONDO:0003778 True autosomal recessive primary immunodeficiency with defective spontaneous natural killer cell cytotoxicity inborn error of immunity UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0014314 MONDO:0018075 True sacral agenesis-abnormal ossification of the vertebral bodies-persistent notochordal canal syndrome neural tube defect UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014316 MONDO:0004975 True Alzheimer disease 19 Alzheimer disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0014317 MONDO:0000159 True pancytopenia-developmental delay syndrome bone marrow failure syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0014317 MONDO:0001713 True pancytopenia-developmental delay syndrome inherited aplastic anemia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014318 MONDO:0016596 True hyperphosphatasia with intellectual disability syndrome 4 hyperphosphatasia-intellectual disability syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0014319 MONDO:0018470 True renal hypodysplasia/aplasia 2 renal agenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0014320 MONDO:0003847 True Bosch-Boonstra-Schaaf optic atrophy syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0014321 MONDO:0019852 True premature ovarian failure 8 inherited primary ovarian failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0014322 MONDO:0019852 True premature ovarian failure 9 inherited primary ovarian failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0014323 MONDO:0019200 True retinitis pigmentosa 68 retinitis pigmentosa UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0014323 MONDO:0019200 True retinitis pigmentosa 68 retinitis pigmentosa UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED MONDO:0014324 MONDO:0016471 True pachyonychia congenita 3 pachyonychia congenita UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0014325 MONDO:0016471 True pachyonychia congenita 4 pachyonychia congenita UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0014328 MONDO:0100062 True developmental and epileptic encephalopathy, 19 developmental and epileptic encephalopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0014327 MONDO:0019272 True palmoplantar keratoderma, nonepidermolytic, focal or diffuse hereditary palmoplantar keratoderma UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014328 MONDO:0100062 True developmental and epileptic encephalopathy, 19 developmental and epileptic encephalopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED MONDO:0014331 MONDO:0016820 True Moyamoya disease with early-onset achalasia Moyamoya disease UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0014337 MONDO:0000904 True complex cortical dysplasia with other brain malformations 5 complex cortical dysplasia with other brain malformations UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0014338 MONDO:0015517 True IL21-related infantile inflammatory bowel disease common variable immunodeficiency UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0014339 MONDO:0015244 True autosomal recessive spinocerebellar ataxia 16 autosomal recessive cerebellar ataxia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0014332 MONDO:0019225 True hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency disorder of gluconeogenesis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014334 MONDO:0017855 True severe combined immunodeficiency due to LCK deficiency T-B- severe combined immunodeficiency UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014336 MONDO:0000426 True intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0014336 MONDO:0015159 True intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014337 MONDO:0000904 True complex cortical dysplasia with other brain malformations 5 complex cortical dysplasia with other brain malformations UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0014338 MONDO:0015517 True IL21-related infantile inflammatory bowel disease common variable immunodeficiency UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0014339 MONDO:0015244 True autosomal recessive spinocerebellar ataxia 16 autosomal recessive cerebellar ataxia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED MONDO:0014340 MONDO:0018054 True atrial fibrillation, familial, 15 familial atrial fibrillation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0014341 MONDO:0000904 True complex cortical dysplasia with other brain malformations 6 complex cortical dysplasia with other brain malformations UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0014341 MONDO:0000904 True complex cortical dysplasia with other brain malformations 6 complex cortical dysplasia with other brain malformations UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED MONDO:0014342 MONDO:0014769 True female infertility due to zona pellucida defect inherited oocyte maturation defect UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0014343 MONDO:0015426 True Desbuquois dysplasia 2 Desbuquois dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0014345 MONDO:0019200 True retinitis pigmentosa 69 retinitis pigmentosa UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0014346 MONDO:0015748 True white sponge nevus 2 hereditary mucosal leukokeratosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0014349 MONDO:0020135 True pontocerebellar hypoplasia type 10 pontocerebellar hypoplasia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0014350 MONDO:0019342 True Seckel syndrome 8 Seckel syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0014351 MONDO:0020135 True pontocerebellar hypoplasia type 9 pontocerebellar hypoplasia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0014352 MONDO:0000816 True abdominal obesity-metabolic syndrome 3 abdominal obesity-metabolic syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0014345 MONDO:0019200 True retinitis pigmentosa 69 retinitis pigmentosa UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0014346 MONDO:0015748 True white sponge nevus 2 hereditary mucosal leukokeratosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0014349 MONDO:0020135 True pontocerebellar hypoplasia type 10 pontocerebellar hypoplasia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0014350 MONDO:0019342 True Seckel syndrome 8 Seckel syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0014351 MONDO:0020135 True pontocerebellar hypoplasia type 9 pontocerebellar hypoplasia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0014352 MONDO:0000816 True abdominal obesity-metabolic syndrome 3 abdominal obesity-metabolic syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0014353 MONDO:0017749 True immunodeficiency 23 disorder of multiple glycosylation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014353 MONDO:0021094 True immunodeficiency 23 immunodeficiency disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0014354 MONDO:0019502 True intellectual disability, autosomal recessive 43 autosomal recessive non-syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0014354 MONDO:0019502 True intellectual disability, autosomal recessive 43 autosomal recessive non-syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED MONDO:0014356 MONDO:0020811 True mitochondrial complex III deficiency nuclear type 7 mitochondrial complex III deficiency, nuclear type UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0014357 MONDO:0100172 True intellectual disability, autosomal dominant 24 intellectual disability, autosomal dominant UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0014359 MONDO:0015999 True pigmented nodular adrenocortical disease, primary, 4 primary pigmented nodular adrenocortical disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0014361 MONDO:0015159 True autism spectrum disorder due to AUTS2 deficiency multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014361 MONDO:0100172 True autism spectrum disorder due to AUTS2 deficiency intellectual disability, autosomal dominant UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0014363 MONDO:0019588 True autosomal recessive nonsyndromic hearing loss 101 hearing loss, autosomal recessive UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0014363 MONDO:0019588 True autosomal recessive nonsyndromic hearing loss 101 hearing loss, autosomal recessive UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED MONDO:0014364 MONDO:0020811 True mitochondrial complex III deficiency nuclear type 8 mitochondrial complex III deficiency, nuclear type UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0014365 MONDO:0004983 True spermatogenic failure 13 spermatogenic failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0014366 MONDO:0004983 True spermatogenic failure 14 spermatogenic failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0014365 MONDO:0004983 True spermatogenic failure 13 spermatogenic failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0014366 MONDO:0004983 True spermatogenic failure 14 spermatogenic failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED MONDO:0014367 MONDO:0018866 True Aicardi-Goutieres syndrome 7 Aicardi-Goutieres syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0014368 MONDO:0024462 True tumor predisposition syndrome 3 susceptibility to familial cutaneous melanoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0014370 MONDO:0020135 True pontocerebellar hypoplasia type 2E pontocerebellar hypoplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0014371 MONDO:0100062 True developmental and epileptic encephalopathy, 23 developmental and epileptic encephalopathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0014372 MONDO:0015993 True cone-rod dystrophy 19 cone-rod dystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0014374 MONDO:0019005 True nephronophthisis 18 nephronophthisis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0014375 MONDO:0000824 True congenital diarrhea 7 with exudative enteropathy congenital diarrhea UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0014376 MONDO:0015452 True intellectual disability, autosomal dominant 27 Coffin-Siris syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0014378 MONDO:0016575 True primary ciliary dyskinesia 29 primary ciliary dyskinesia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0014380 MONDO:0016073 True colobomatous microphthalmia-rhizomelic dysplasia syndrome syndromic microphthalmia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0014381 MONDO:0015762 True cholestasis, progressive familial intrahepatic, 4 progressive familial intrahepatic cholestasis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0014369 MONDO:0000426 True postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0014369 MONDO:0002254 True postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0014369 MONDO:0018234 True postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome dysostosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0014369 MONDO:0018762 True postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome non-acquired combined pituitary hormone deficiency UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014369 MONDO:0019054 True postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome congenital limb malformation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014370 MONDO:0020135 True pontocerebellar hypoplasia type 2E pontocerebellar hypoplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0014371 MONDO:0015159 True developmental and epileptic encephalopathy, 23 multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014371 MONDO:0100062 True developmental and epileptic encephalopathy, 23 developmental and epileptic encephalopathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0014372 MONDO:0015993 True cone-rod dystrophy 19 cone-rod dystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0014374 MONDO:0019005 True nephronophthisis 18 nephronophthisis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0014375 MONDO:0000824 True congenital diarrhea 7 with exudative enteropathy congenital diarrhea UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0014376 MONDO:0000426 True intellectual disability, autosomal dominant 27 autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0014376 MONDO:0015452 True intellectual disability, autosomal dominant 27 Coffin-Siris syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0014378 MONDO:0016575 True primary ciliary dyskinesia 29 primary ciliary dyskinesia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0014379 MONDO:0015159 True ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014380 MONDO:0016073 True colobomatous microphthalmia-rhizomelic dysplasia syndrome syndromic microphthalmia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0014380 MONDO:0018230 True colobomatous microphthalmia-rhizomelic dysplasia syndrome skeletal dysplasia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014381 MONDO:0015762 True cholestasis, progressive familial intrahepatic, 4 progressive familial intrahepatic cholestasis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0014382 MONDO:0015159 True Tatton-Brown-Rahman overgrowth syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014383 MONDO:0008051 True myopathy, tubular aggregate, 2 tubular aggregate myopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0014384 MONDO:0003037 True hypotrichosis 12 hypotrichosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0014386 MONDO:0000009 True platelet-type bleeding disorder 18 inherited bleeding disorder, platelet-type UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0014388 MONDO:0000358 True familial median cleft of the upper and lower lips orofacial cleft UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0014384 MONDO:0003037 True hypotrichosis 12 hypotrichosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0014386 MONDO:0000009 True platelet-type bleeding disorder 18 inherited bleeding disorder, platelet-type UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0014386 MONDO:0021181 True platelet-type bleeding disorder 18 inherited blood coagulation disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014388 MONDO:0000358 True familial median cleft of the upper and lower lips orofacial cleft UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED MONDO:0014389 MONDO:0000192 True polyglucosan body myopathy 1 with or without immunodeficiency polyglucosan body myopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0014390 MONDO:0003037 True hypotrichosis 13 hypotrichosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0014393 MONDO:0019313 True lymphatic malformation 4 lymphatic malformation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0014394 MONDO:0015253 True Diamond-Blackfan anemia 13 Diamond-Blackfan anemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0014389 MONDO:0002412 True polyglucosan body myopathy 1 with or without immunodeficiency disorder of glycogen metabolism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0014390 MONDO:0003037 True hypotrichosis 13 hypotrichosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0014391 MONDO:0044201 True severe combined immunodeficiency due to CTPS1 deficiency T+ B+ severe combined immunodeficiency UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014393 MONDO:0019313 True lymphatic malformation 4 lymphatic malformation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0014394 MONDO:0015253 True Diamond-Blackfan anemia 13 Diamond-Blackfan anemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED MONDO:0014395 MONDO:0005144 True frontotemporal dementia and/or amyotrophic lateral sclerosis 2 familial amyotrophic lateral sclerosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0014395 MONDO:0017161 True frontotemporal dementia and/or amyotrophic lateral sclerosis 2 frontotemporal dementia with motor neuron disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0014396 MONDO:0016333 True dilated cardiomyopathy 1NN familial dilated cardiomyopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0014397 MONDO:0000732 True combined oxidative phosphorylation defect type 20 combined oxidative phosphorylation deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0014398 MONDO:0000732 True combined oxidative phosphorylation defect type 21 combined oxidative phosphorylation deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0014397 MONDO:0000732 True combined oxidative phosphorylation defect type 20 combined oxidative phosphorylation deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0014398 MONDO:0000732 True combined oxidative phosphorylation defect type 21 combined oxidative phosphorylation deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED MONDO:0014399 MONDO:0011457 True ataxia-telangiectasia-like disorder 2 ataxia-telangiectasia-like disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0014400 MONDO:0019200 True retinitis pigmentosa 70 retinitis pigmentosa UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0014400 MONDO:0019200 True retinitis pigmentosa 70 retinitis pigmentosa UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0014401 MONDO:0018230 True tall stature-scoliosis-macrodactyly of the great toes syndrome skeletal dysplasia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014402 MONDO:0020087 True severe neurodegenerative syndrome with lipodystrophy hereditary lipodystrophy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014402 MONDO:0024237 True severe neurodegenerative syndrome with lipodystrophy inherited neurodegenerative disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014403 MONDO:0019824 True short stature due to GHSR deficiency non-acquired pituitary hormone deficiency UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014405 MONDO:0019751 True STING-associated vasculopathy with onset in infancy autoinflammatory syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014406 MONDO:0009832 True pancreatic agenesis 2 pancreatic agenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0014407 MONDO:0019375 True megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0014408 MONDO:0019375 True megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3 megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0014409 MONDO:0019502 True intellectual disability, autosomal recessive 44 autosomal recessive non-syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0014409 MONDO:0019502 True intellectual disability, autosomal recessive 44 autosomal recessive non-syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0014410 MONDO:0019792 True spinocerebellar ataxia type 37 autosomal dominant cerebellar ataxia type I UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014411 MONDO:0001384 True myopia 24, autosomal dominant myopia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0014413 MONDO:0015375 True orofaciodigital syndrome type 14 orofaciodigital syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0014412 MONDO:0001336 True hyperlipoproteinemia, type 1D familial hyperlipidemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0014412 MONDO:0006025 True hyperlipoproteinemia, type 1D autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0014412 MONDO:0018637 True hyperlipoproteinemia, type 1D familial chylomicronemia syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0014413 MONDO:0015159 True orofaciodigital syndrome type 14 multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014413 MONDO:0015375 True orofaciodigital syndrome type 14 orofaciodigital syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0014414 MONDO:0000213 True STAT3-related early-onset multisystem autoimmune disease autoimmune disease, multisystem, infantile-onset UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0014416 MONDO:0009049 True ACTH-independent macronodular adrenal hyperplasia 2 Cushing syndrome due to macronodular adrenal hyperplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0014417 MONDO:0018117 True spinocerebellar ataxia type 38 disorder of phospholipids, sphingolipids and fatty acids biosynthesis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014417 MONDO:0019793 True spinocerebellar ataxia type 38 autosomal dominant cerebellar ataxia type III UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014418 MONDO:0015705 True myopathy, centronuclear, 5 autosomal recessive centronuclear myopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0014419 MONDO:0020022 True ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome central nervous system malformation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014420 MONDO:0015892 True short stature due to primary acid-labile subunit deficiency growth hormone insensitivity syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014421 MONDO:0015898 True glucocorticoid resistance adrenogenital syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014422 MONDO:0017329 True vesicoureteral reflux 8 familial vesicoureteral reflux UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0014423 MONDO:0017855 True severe combined immunodeficiency due to DNA-PKcs deficiency T-B- severe combined immunodeficiency UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014426 MONDO:0005514 True nanophthalmos 4 nanophthalmia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0014427 MONDO:0015993 True cone-rod dystrophy 20 cone-rod dystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0014428 MONDO:0019588 True autosomal recessive nonsyndromic hearing loss 102 hearing loss, autosomal recessive UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0014430 MONDO:0019502 True intellectual disability, autosomal recessive 45 autosomal recessive non-syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0014431 MONDO:0020088 True LIPE-related familial partial lipodystrophy familial partial lipodystrophy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0014432 MONDO:0015229 True Bardet-Biedl syndrome 2 Bardet-Biedl syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0014433 MONDO:0015229 True Bardet-Biedl syndrome 4 Bardet-Biedl syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0014434 MONDO:0015229 True Bardet-Biedl syndrome 5 Bardet-Biedl syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0014435 MONDO:0015229 True Bardet-Biedl syndrome 7 Bardet-Biedl syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0014436 MONDO:0015229 True Bardet-Biedl syndrome 8 Bardet-Biedl syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0014437 MONDO:0015229 True Bardet-Biedl syndrome 9 Bardet-Biedl syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0014438 MONDO:0015229 True Bardet-Biedl syndrome 10 Bardet-Biedl syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0014439 MONDO:0015229 True Bardet-Biedl syndrome 11 Bardet-Biedl syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0014440 MONDO:0015229 True Bardet-Biedl syndrome 12 Bardet-Biedl syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0014441 MONDO:0015229 True Bardet-Biedl syndrome 13 Bardet-Biedl syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0014442 MONDO:0015229 True Bardet-Biedl syndrome 14 Bardet-Biedl syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0014443 MONDO:0015229 True Bardet-Biedl syndrome 15 Bardet-Biedl syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0014444 MONDO:0015229 True Bardet-Biedl syndrome 16 Bardet-Biedl syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0014445 MONDO:0015229 True Bardet-Biedl syndrome 17 Bardet-Biedl syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0014446 MONDO:0015229 True Bardet-Biedl syndrome 18 Bardet-Biedl syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0014447 MONDO:0015229 True Bardet-Biedl syndrome 19 Bardet-Biedl syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0014448 MONDO:0004425 True hyperthyroxinemia, familial dysalbuminemic hyperthyroidism UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014427 MONDO:0015993 True cone-rod dystrophy 20 cone-rod dystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0014428 MONDO:0019588 True autosomal recessive nonsyndromic hearing loss 102 hearing loss, autosomal recessive UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0014429 MONDO:0019146 True autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency inherited susceptibility to mycobacterial diseases UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014430 MONDO:0019502 True intellectual disability, autosomal recessive 45 autosomal recessive non-syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0014431 MONDO:0020088 True LIPE-related familial partial lipodystrophy familial partial lipodystrophy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0014432 MONDO:0015229 True Bardet-Biedl syndrome 2 Bardet-Biedl syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0014433 MONDO:0015229 True Bardet-Biedl syndrome 4 Bardet-Biedl syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0014434 MONDO:0015229 True Bardet-Biedl syndrome 5 Bardet-Biedl syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0014435 MONDO:0015229 True Bardet-Biedl syndrome 7 Bardet-Biedl syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0014436 MONDO:0015229 True Bardet-Biedl syndrome 8 Bardet-Biedl syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0014437 MONDO:0015229 True Bardet-Biedl syndrome 9 Bardet-Biedl syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0014438 MONDO:0015229 True Bardet-Biedl syndrome 10 Bardet-Biedl syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0014439 MONDO:0015229 True Bardet-Biedl syndrome 11 Bardet-Biedl syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0014440 MONDO:0015229 True Bardet-Biedl syndrome 12 Bardet-Biedl syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0014441 MONDO:0015229 True Bardet-Biedl syndrome 13 Bardet-Biedl syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0014442 MONDO:0015229 True Bardet-Biedl syndrome 14 Bardet-Biedl syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0014443 MONDO:0015229 True Bardet-Biedl syndrome 15 Bardet-Biedl syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0014444 MONDO:0015229 True Bardet-Biedl syndrome 16 Bardet-Biedl syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0014445 MONDO:0015229 True Bardet-Biedl syndrome 17 Bardet-Biedl syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0014446 MONDO:0015229 True Bardet-Biedl syndrome 18 Bardet-Biedl syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0014447 MONDO:0015229 True Bardet-Biedl syndrome 19 Bardet-Biedl syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED MONDO:0014450 MONDO:0015855 True breasts and/or nipples, aplasia or hypoplasia of, 2 isolated congenital breast hypoplasia/aplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0014451 MONDO:0005363 True focal segmental glomerulosclerosis 7 inherited focal segmental glomerulosclerosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0014452 MONDO:0018060 True familial dysfibrinogenemia congenital fibrinogen deficiency UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014454 MONDO:0016256 True Hennekam lymphangiectasia-lymphedema syndrome 2 Hennekam syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0014455 MONDO:0015514 True cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome hereditary endocrine growth disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014455 MONDO:0016387 True cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome mitochondrial oxidative phosphorylation disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014455 MONDO:0020127 True cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome hereditary peripheral neuropathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014456 MONDO:0028226 True autosomal recessive severe congenital neutropenia due to JAGN1 deficiency autosomal recessive severe congenital neutropenia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014457 MONDO:0016596 True hyperphosphatasia with intellectual disability syndrome 5 hyperphosphatasia-intellectual disability syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0014458 MONDO:0100238 True Fanconi renotubular syndrome 4 with maturity-onset diabetes of the young inherited Fanconi renotubular syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0014459 MONDO:0007034 True Adams-Oliver syndrome 5 Adams-Oliver syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0014460 MONDO:0017672 True nail and teeth abnormalities-marginal palmoplantar keratoderma-oral hyperpigmentation syndrome focal palmoplantar keratoderma UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014460 MONDO:0019287 True nail and teeth abnormalities-marginal palmoplantar keratoderma-oral hyperpigmentation syndrome ectodermal dysplasia syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0014460 MONDO:0019289 True nail and teeth abnormalities-marginal palmoplantar keratoderma-oral hyperpigmentation syndrome hyperpigmentation of the skin UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014462 MONDO:0005363 True focal segmental glomerulosclerosis 8 inherited focal segmental glomerulosclerosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0014465 MONDO:0016575 True primary ciliary dyskinesia 30 primary ciliary dyskinesia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0014466 MONDO:0000179 True Neu-Laxova syndrome 2 Neu-Laxova syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0014468 MONDO:0018940 True congenital myasthenic syndrome 7 congenital myasthenic syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0014469 MONDO:0019588 True autosomal recessive nonsyndromic hearing loss 103 hearing loss, autosomal recessive UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0014470 MONDO:0019587 True autosomal dominant nonsyndromic hearing loss 65 autosomal dominant nonsyndromic hearing loss UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0014473 MONDO:0016660 True microcephaly 13, primary, autosomal recessive autosomal recessive primary microcephaly UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0014464 MONDO:0018117 True progressive encephalopathy with leukodystrophy due to DECR deficiency disorder of phospholipids, sphingolipids and fatty acids biosynthesis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014464 MONDO:0019046 True progressive encephalopathy with leukodystrophy due to DECR deficiency leukodystrophy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0014465 MONDO:0016575 True primary ciliary dyskinesia 30 primary ciliary dyskinesia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0014466 MONDO:0000179 True Neu-Laxova syndrome 2 Neu-Laxova syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0014467 MONDO:0016387 True Charcot-Marie-Tooth disease recessive intermediate D mitochondrial oxidative phosphorylation disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014467 MONDO:0017058 True Charcot-Marie-Tooth disease recessive intermediate D autosomal recessive intermediate Charcot-Marie-Tooth disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014468 MONDO:0018940 True congenital myasthenic syndrome 7 congenital myasthenic syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0014469 MONDO:0019588 True autosomal recessive nonsyndromic hearing loss 103 hearing loss, autosomal recessive UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0014470 MONDO:0019587 True autosomal dominant nonsyndromic hearing loss 65 autosomal dominant nonsyndromic hearing loss UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0014472 MONDO:0017953 True periodic fever-infantile enterocolitis-autoinflammatory syndrome hereditary periodic fever syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014473 MONDO:0016660 True microcephaly 13, primary, autosomal recessive autosomal recessive primary microcephaly UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED MONDO:0014474 MONDO:0000173 True autosomal recessive limb-girdle muscular dystrophy type 2U muscular dystrophy-dystroglycanopathy, type C UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0014474 MONDO:0015152 True autosomal recessive limb-girdle muscular dystrophy type 2U autosomal recessive limb-girdle muscular dystrophy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0014476 MONDO:0016227 True episodic ataxia type 8 hereditary episodic ataxia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0014474 MONDO:0015152 True autosomal recessive limb-girdle muscular dystrophy type 2U autosomal recessive limb-girdle muscular dystrophy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0014475 MONDO:0019792 True spinocerebellar ataxia type 40 autosomal dominant cerebellar ataxia type I UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014476 MONDO:0016227 True episodic ataxia type 8 hereditary episodic ataxia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED MONDO:0014478 MONDO:0016558 True mirror movements 3 familial congenital mirror movements UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0014480 MONDO:0010765 True 46,XY sex reversal 9 46,XY complete gonadal dysgenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0014480 MONDO:0010765 True 46,XY sex reversal 9 46,XY complete gonadal dysgenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED MONDO:0014481 MONDO:0017411 True inflammatory skin and bowel disease, neonatal, 2 neonatal inflammatory skin and bowel disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0014484 MONDO:0016660 True microcephaly 12, primary, autosomal recessive autosomal recessive primary microcephaly UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0014482 MONDO:0000426 True intellectual disability, autosomal dominant 29 autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0014483 MONDO:0019118 True retinal dystrophy with inner retinal dysfunction and ganglion cell anomalies inherited retinal dystrophy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014484 MONDO:0016660 True microcephaly 12, primary, autosomal recessive autosomal recessive primary microcephaly UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0014485 MONDO:0016396 True pontocerebellar hypoplasia, type 1C pontocerebellar hypoplasia type 1 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0014486 MONDO:0000426 True intellectual disability, autosomal dominant 30 autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0014487 MONDO:0020099 True congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome inherited sideroblastic anemia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0014489 MONDO:0000173 True limb-girdle muscular dystrophy due to POMK deficiency muscular dystrophy-dystroglycanopathy, type C UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0014489 MONDO:0015152 True limb-girdle muscular dystrophy due to POMK deficiency autosomal recessive limb-girdle muscular dystrophy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS +MONDO:0014489 MONDO:0016155 True limb-girdle muscular dystrophy due to POMK deficiency qualitative or quantitative defects of protein involved in O-glycosylation of alpha-dystroglycan UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014490 MONDO:0019223 True ketoacidosis due to monocarboxylate transporter-1 deficiency disorder of fatty acid and ketone body metabolism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014491 MONDO:0003778 True immunodeficiency 37 inborn error of immunity UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0014492 MONDO:0017672 True wooly hair-palmoplantar keratoderma syndrome focal palmoplantar keratoderma UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014496 MONDO:0020811 True mitochondrial complex III deficiency nuclear type 9 mitochondrial complex III deficiency, nuclear type UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0014498 MONDO:0018768 True familial cold autoinflammatory syndrome 4 familial cold autoinflammatory syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0014499 MONDO:0019502 True intellectual disability, autosomal recessive 46 autosomal recessive non-syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0014497 MONDO:0015770 True polyendocrine-polyneuropathy syndrome congenital hypogonadotropic hypogonadism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014498 MONDO:0018768 True familial cold autoinflammatory syndrome 4 familial cold autoinflammatory syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0014499 MONDO:0019502 True intellectual disability, autosomal recessive 46 autosomal recessive non-syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0014502 MONDO:0019146 True Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency inherited susceptibility to mycobacterial diseases UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014503 MONDO:0020043 True autosomal recessive spinocerebellar ataxia 17 autosomal recessive congenital cerebellar ataxia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014504 MONDO:0017312 True Perrault syndrome 5 Perrault syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0014505 MONDO:0100062 True developmental and epileptic encephalopathy, 27 developmental and epileptic encephalopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0014506 MONDO:0019046 True hypomyelinating leukodystrophy 9 leukodystrophy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0014505 MONDO:0100062 True developmental and epileptic encephalopathy, 27 developmental and epileptic encephalopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0014506 MONDO:0019046 True hypomyelinating leukodystrophy 9 leukodystrophy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0014507 MONDO:0015159 True Catel-Manzke syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014510 MONDO:0019701 True fatty acyl-CoA reductase 1 deficiency chondrodysplasia punctata UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0014511 MONDO:0018993 True Charcot-Marie-Tooth disease axonal type 2S Charcot-Marie-Tooth disease type 2 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0014512 MONDO:0000426 True PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0014514 MONDO:0019625 True aortic aneurysm, familial thoracic 9 familial thoracic aortic aneurysm and aortic dissection UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0014516 MONDO:0000181 True microcephaly and chorioretinopathy 2 microcephaly and chorioretinopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0014517 MONDO:0018214 True generalized epilepsy with febrile seizures plus, type 9 generalized epilepsy with febrile seizures plus UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0014518 MONDO:0000009 True platelet-type bleeding disorder 19 inherited bleeding disorder, platelet-type UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0014521 MONDO:0020074 True progressive myoclonic epilepsy type 7 progressive myoclonus epilepsy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0014524 MONDO:0019502 True intellectual disability, autosomal recessive 47 autosomal recessive non-syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0014525 MONDO:0000732 True combined oxidative phosphorylation defect type 23 combined oxidative phosphorylation deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0014516 MONDO:0006025 True microcephaly and chorioretinopathy 2 autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0014517 MONDO:0018214 True generalized epilepsy with febrile seizures plus, type 9 generalized epilepsy with febrile seizures plus UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0014518 MONDO:0000009 True platelet-type bleeding disorder 19 inherited bleeding disorder, platelet-type UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0014520 MONDO:0019852 True 46,XX ovarian dysgenesis-short stature syndrome inherited primary ovarian failure UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0014521 MONDO:0020074 True progressive myoclonic epilepsy type 7 progressive myoclonus epilepsy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0014523 MONDO:0100309 True juvenile-onset diabetes mellitus-central and peripheral neurodegeneration syndrome hereditary ataxia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014524 MONDO:0019502 True intellectual disability, autosomal recessive 47 autosomal recessive non-syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0014525 MONDO:0000732 True combined oxidative phosphorylation defect type 23 combined oxidative phosphorylation deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED MONDO:0014526 MONDO:0000192 True polyglucosan body myopathy type 2 polyglucosan body myopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0014527 MONDO:0015356 True progeroid features-hepatocellular carcinoma predisposition syndrome hereditary neoplastic syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014528 MONDO:0002254 True chronic atrial and intestinal dysrhythmia syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0014529 MONDO:0003847 True cerebellar-facial-dental syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0014529 MONDO:0015159 True cerebellar-facial-dental syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014529 MONDO:0020022 True cerebellar-facial-dental syndrome central nervous system malformation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014530 MONDO:0018189 True autosomal recessive spinocerebellar ataxia 18 autosomal recessive cerebellar ataxia - pyramidal signs - nystagmus - oculomotor apraxia syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014531 MONDO:0005144 True amyotrophic lateral sclerosis type 22 familial amyotrophic lateral sclerosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0014532 MONDO:0009637 True autosomal dominant mitochondrial myopathy with exercise intolerance inborn mitochondrial myopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0014532 MONDO:0016387 True autosomal dominant mitochondrial myopathy with exercise intolerance mitochondrial oxidative phosphorylation disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014532 MONDO:0020123 True autosomal dominant mitochondrial myopathy with exercise intolerance metabolic myopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014534 MONDO:0015204 True lissencephaly 6 with microcephaly microlissencephaly UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0014536 MONDO:0100241 True thrombocytopenia 5 inherited thrombocytopenia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0014537 MONDO:0019005 True nephronophthisis 19 nephronophthisis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0014538 MONDO:0007614 True fibrosis of extraocular muscles, congenital, 5 congenital fibrosis of extraocular muscles UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0014537 MONDO:0019005 True nephronophthisis 19 nephronophthisis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0014538 MONDO:0007614 True fibrosis of extraocular muscles, congenital, 5 congenital fibrosis of extraocular muscles UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED MONDO:0014539 MONDO:0005363 True focal segmental glomerulosclerosis 9 inherited focal segmental glomerulosclerosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0014541 MONDO:0002254 True motor developmental delay due to 14q32.2 paternally expressed gene defect syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0014542 MONDO:0018940 True congenital myasthenic syndrome 15 congenital myasthenic syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0014541 MONDO:0002254 True motor developmental delay due to 14q32.2 paternally expressed gene defect syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0014542 MONDO:0018940 True congenital myasthenic syndrome 15 congenital myasthenic syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED MONDO:0014543 MONDO:0000182 True congenital myasthenic syndrome 14 congenital myasthenic syndrome with tubular aggregates UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0014545 MONDO:0020074 True progressive myoclonic epilepsy type 8 progressive myoclonus epilepsy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0014547 MONDO:0000732 True combined oxidative phosphorylation defect type 24 combined oxidative phosphorylation deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0014545 MONDO:0018117 True progressive myoclonic epilepsy type 8 disorder of phospholipids, sphingolipids and fatty acids biosynthesis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014545 MONDO:0020074 True progressive myoclonic epilepsy type 8 progressive myoclonus epilepsy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0014546 MONDO:0016199 True myopathy due to calsequestrin and SERCA1 protein overload qualitative or quantitative defects of protein SERCA1 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014547 MONDO:0000732 True combined oxidative phosphorylation defect type 24 combined oxidative phosphorylation deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED MONDO:0014548 MONDO:0019171 True long QT syndrome 14 familial long QT syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0014549 MONDO:0017436 True lethal congenital contracture syndrome 6 lethal congenital contracture syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0014550 MONDO:0019171 True long QT syndrome 15 familial long QT syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0014552 MONDO:0015168 True lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome arthrogryposis multiplex congenita UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0014552 MONDO:0018921 True lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome Meckel syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0014561 MONDO:0017359 True 3-methylglutaconic aciduria, type VIIB 3-methylglutaconic aciduria UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0014562 MONDO:0018151 True neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome coenzyme Q10 deficiency UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0014564 MONDO:0018841 True congenital bile acid synthesis defect 5 congenital bile acid synthesis defect UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0014552 MONDO:0020022 True lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome central nervous system malformation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014555 MONDO:0010033 True peeling skin syndrome type A generalized peeling skin syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014556 MONDO:0003847 True congenital contractures of the limbs and face, hypotonia, and developmental delay hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0014557 MONDO:0020047 True ataxia - oculomotor apraxia type 4 autosomal recessive syndromic cerebellar ataxia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014557 MONDO:0020127 True ataxia - oculomotor apraxia type 4 hereditary peripheral neuropathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014557 MONDO:0044807 True ataxia - oculomotor apraxia type 4 inherited dystonia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0014558 MONDO:0015159 True autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014561 MONDO:0017359 True 3-methylglutaconic aciduria, type VIIB 3-methylglutaconic aciduria UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0014562 MONDO:0018151 True neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome coenzyme Q10 deficiency UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0014564 MONDO:0018841 True congenital bile acid synthesis defect 5 congenital bile acid synthesis defect UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0014566 MONDO:0018993 True Charcot-Marie-Tooth disease axonal type 2U Charcot-Marie-Tooth disease type 2 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0014567 MONDO:0015150 True glutamate pyruvate transaminase 2 deficiency complex hereditary spastic paraplegia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014568 MONDO:0015149 True hereditary spastic paraplegia 73 pure hereditary spastic paraplegia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014569 MONDO:0017436 True lethal congenital contracture syndrome 7 lethal congenital contracture syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0014570 MONDO:0017436 True lethal congenital contracture syndrome 8 lethal congenital contracture syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0014571 MONDO:0043878 True optic atrophy 9 hereditary optic atrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0014572 MONDO:0015244 True Lichtenstein-Knorr syndrome autosomal recessive cerebellar ataxia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0014572 MONDO:0015244 True Lichtenstein-Knorr syndrome autosomal recessive cerebellar ataxia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED MONDO:0014573 MONDO:0016085 True Cole-Carpenter syndrome 2 Cole-Carpenter syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0014575 MONDO:0008429 True Singleton-Merten syndrome 2 Singleton-Merten dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0014577 MONDO:0018770 True short-rib thoracic dysplasia 13 with or without polydactyly Jeune syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0014576 MONDO:0018424 True lipoyl transferase 1 deficiency inherited lipoic acid biosynthesis defect UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014577 MONDO:0018770 True short-rib thoracic dysplasia 13 with or without polydactyly Jeune syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED MONDO:0014579 MONDO:0017842 True Senior-Loken syndrome 8 Senior-Loken syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0014590 MONDO:0018940 True congenital myasthenic syndrome 18 congenital myasthenic syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0014580 MONDO:0015802 True intellectual disability, autosomal dominant 33 autosomal dominant non-syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0014589 MONDO:0018911 True maturity-onset diabetes of the young type 13 maturity-onset diabetes of the young UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED +MONDO:0014590 MONDO:0018940 True congenital myasthenic syndrome 18 congenital myasthenic syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED MONDO:0014592 MONDO:0000181 True microcephaly and chorioretinopathy 3 microcephaly and chorioretinopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0014594 MONDO:0019587 True autosomal dominant nonsyndromic hearing loss 67 autosomal dominant nonsyndromic hearing loss UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0014595 MONDO:0100062 True developmental and epileptic encephalopathy, 30 developmental and epileptic encephalopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0014596 MONDO:0018838 True lissencephaly 7 with cerebellar hypoplasia lissencephaly spectrum disorders UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0014600 MONDO:0015780 True dyskeratosis congenita, autosomal recessive 6 dyskeratosis congenita UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0014601 MONDO:0015244 True autosomal recessive spinocerebellar ataxia 20 autosomal recessive cerebellar ataxia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0014602 MONDO:0100172 True intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome intellectual disability, autosomal dominant UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0014603 MONDO:0019587 True autosomal dominant nonsyndromic hearing loss 40 autosomal dominant nonsyndromic hearing loss UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0014594 MONDO:0019587 True autosomal dominant nonsyndromic hearing loss 67 autosomal dominant nonsyndromic hearing loss UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0014595 MONDO:0100062 True developmental and epileptic encephalopathy, 30 developmental and epileptic encephalopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0014596 MONDO:0018838 True lissencephaly 7 with cerebellar hypoplasia lissencephaly spectrum disorders UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0014597 MONDO:0003778 True immunodeficiency 39 inborn error of immunity UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0014599 MONDO:0015802 True intellectual disability, autosomal dominant 34 autosomal dominant non-syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0014600 MONDO:0015780 True dyskeratosis congenita, autosomal recessive 6 dyskeratosis congenita UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0014601 MONDO:0015159 True autosomal recessive spinocerebellar ataxia 20 multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014601 MONDO:0015244 True autosomal recessive spinocerebellar ataxia 20 autosomal recessive cerebellar ataxia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0014601 MONDO:0020022 True autosomal recessive spinocerebellar ataxia 20 central nervous system malformation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014602 MONDO:0015159 True intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014603 MONDO:0019587 True autosomal dominant nonsyndromic hearing loss 40 autosomal dominant nonsyndromic hearing loss UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0014604 MONDO:0008199 True Parkinson disease 21 late-onset Parkinson disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED +MONDO:0014605 MONDO:0000426 True microcephaly-corpus callosum hypoplasia-intellectual disability-facial dysmorphism syndrome autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0014605 MONDO:0015159 True microcephaly-corpus callosum hypoplasia-intellectual disability-facial dysmorphism syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014606 MONDO:0015159 True intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014606 MONDO:0100172 True intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome intellectual disability, autosomal dominant UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0014611 MONDO:0017338 True multiple mitochondrial dysfunctions syndrome 4 fatal multiple mitochondrial dysfunctions syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0014608 MONDO:0002254 True mandibulofacial dysostosis with alopecia syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0014608 MONDO:0015483 True mandibulofacial dysostosis with alopecia mandibulofacial dysostosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014608 MONDO:0018234 True mandibulofacial dysostosis with alopecia dysostosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0014608 MONDO:0018751 True mandibulofacial dysostosis with alopecia hereditary otorhinolaryngologic disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014609 MONDO:0015159 True cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014611 MONDO:0017338 True multiple mitochondrial dysfunctions syndrome 4 fatal multiple mitochondrial dysfunctions syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0014611 MONDO:0019046 True multiple mitochondrial dysfunctions syndrome 4 leukodystrophy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS MONDO:0014612 MONDO:0000148 True pulmonary fibrosis and/or bone marrow failure, Telomere-related, 4 pulmonary fibrosis and/or bone marrow failure, telomere-related UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0014613 MONDO:0000148 True pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 pulmonary fibrosis and/or bone marrow failure, telomere-related UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0014614 MONDO:0016293 True congenital stationary night blindness 1G congenital stationary night blindness UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0014614 MONDO:0006025 True congenital stationary night blindness 1G autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0014614 MONDO:0016293 True congenital stationary night blindness 1G congenital stationary night blindness UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0014615 MONDO:0002470 True trichothiodystrophy 2, photosensitive photosensitive trichothiodystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0014617 MONDO:0100172 True intellectual disability, autosomal dominant 38 intellectual disability, autosomal dominant UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0014618 MONDO:0019200 True retinitis pigmentosa 71 retinitis pigmentosa UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0014621 MONDO:0015263 True Brugada syndrome 9 Brugada syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0014623 MONDO:0016660 True microcephaly 14, primary, autosomal recessive autosomal recessive primary microcephaly UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0014618 MONDO:0019200 True retinitis pigmentosa 71 retinitis pigmentosa UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0014619 MONDO:0002470 True trichothiodystrophy 3, photosensitive photosensitive trichothiodystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0014620 MONDO:0000903 True myoclonic dystonia 26 myoclonus-dystonia syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0014621 MONDO:0015263 True Brugada syndrome 9 Brugada syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0014622 MONDO:0017672 True isolated focal non-epidermolytic palmoplantar keratoderma focal palmoplantar keratoderma UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014623 MONDO:0016660 True microcephaly 14, primary, autosomal recessive autosomal recessive primary microcephaly UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0014624 MONDO:0004753 True Brown syndrome mechanical strabismus UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0014626 MONDO:0019793 True spinocerebellar ataxia type 41 autosomal dominant cerebellar ataxia type III UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014627 MONDO:0000479 True dystonia 27 segmental dystonia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0014627 MONDO:0015990 True dystonia 27 focal, segmental or multifocal dystonia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014628 MONDO:0008947 True basal ganglia calcification, idiopathic, 6 bilateral striopallidodentate calcinosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0014630 MONDO:0021055 True familial adenomatous polyposis 3 classic familial adenomatous polyposis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0014632 MONDO:0019046 True hypomyelinating leukodystrophy 10 leukodystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0014634 MONDO:0010765 True 46,XY sex reversal 10 46,XY complete gonadal dysgenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0014629 MONDO:0003847 True autoimmune interstitial lung disease-arthritis syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0014630 MONDO:0016362 True familial adenomatous polyposis 3 attenuated familial adenomatous polyposis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014630 MONDO:0021055 True familial adenomatous polyposis 3 classic familial adenomatous polyposis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0014632 MONDO:0019046 True hypomyelinating leukodystrophy 10 leukodystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0014634 MONDO:0010765 True 46,XY sex reversal 10 46,XY complete gonadal dysgenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED MONDO:0014635 MONDO:0000170 True microphthalmia, isolated, with coloboma 10 microphthalmia, isolated, with coloboma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0014636 MONDO:0000732 True combined oxidative phosphorylation defect type 25 combined oxidative phosphorylation deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0014636 MONDO:0000732 True combined oxidative phosphorylation defect type 25 combined oxidative phosphorylation deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED MONDO:0014637 MONDO:0021094 True DOCK2 deficiency immunodeficiency disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0014638 MONDO:0019391 True Fanconi anemia complementation group T Fanconi anemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0014639 MONDO:0005115 True familial temporal lobe epilepsy 7 temporal lobe epilepsy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0014638 MONDO:0019391 True Fanconi anemia complementation group T Fanconi anemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0014639 MONDO:0005115 True familial temporal lobe epilepsy 7 temporal lobe epilepsy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED MONDO:0014640 MONDO:0005144 True frontotemporal dementia and/or amyotrophic lateral sclerosis 3 familial amyotrophic lateral sclerosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0014640 MONDO:0017161 True frontotemporal dementia and/or amyotrophic lateral sclerosis 3 frontotemporal dementia with motor neuron disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0014641 MONDO:0005144 True frontotemporal dementia and/or amyotrophic lateral sclerosis 4 familial amyotrophic lateral sclerosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0014641 MONDO:0017161 True frontotemporal dementia and/or amyotrophic lateral sclerosis 4 frontotemporal dementia with motor neuron disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0014642 MONDO:0015279 True candidiasis, familial, 9 chronic mucocutaneous candidiasis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0014643 MONDO:0015159 True congenital cataract-microcephaly-nevus flammeus simplex-severe intellectual disability syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014644 MONDO:0015150 True hereditary spastic paraplegia 74 complex hereditary spastic paraplegia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014645 MONDO:0003778 True BENTA disease inborn error of immunity UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014646 MONDO:0000200 True Zimmermann-Laband syndrome 2 Zimmermann-Laband syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0014647 MONDO:0100062 True developmental and epileptic encephalopathy, 50 developmental and epileptic encephalopathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0014649 MONDO:0019502 True intellectual disability, autosomal recessive 50 autosomal recessive non-syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0014650 MONDO:0005115 True familial temporal lobe epilepsy 8 temporal lobe epilepsy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0014652 MONDO:0019516 True exudative vitreoretinopathy 6 exudative vitreoretinopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0014653 MONDO:0019200 True retinitis pigmentosa 72 retinitis pigmentosa UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0014647 MONDO:0017749 True developmental and epileptic encephalopathy, 50 disorder of multiple glycosylation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014647 MONDO:0019238 True developmental and epileptic encephalopathy, 50 inborn disorder of pyrimidine metabolism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0014647 MONDO:0100062 True developmental and epileptic encephalopathy, 50 developmental and epileptic encephalopathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0014649 MONDO:0019502 True intellectual disability, autosomal recessive 50 autosomal recessive non-syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0014650 MONDO:0005115 True familial temporal lobe epilepsy 8 temporal lobe epilepsy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0014651 MONDO:0018237 True acrofacial dysostosis Cincinnati type acrofacial dysostosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0014652 MONDO:0019516 True exudative vitreoretinopathy 6 exudative vitreoretinopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0014653 MONDO:0019200 True retinitis pigmentosa 72 retinitis pigmentosa UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED MONDO:0014654 MONDO:0000355 True Ullrich congenital muscular dystrophy 2 Ullrich congenital muscular dystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0014656 MONDO:0000090 True progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 2 progressive external ophthalmoplegia with mitochondrial DNA deletions UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0014657 MONDO:0016575 True primary ciliary dyskinesia 32 primary ciliary dyskinesia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0014657 MONDO:0016575 True primary ciliary dyskinesia 32 primary ciliary dyskinesia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0014658 MONDO:0000426 True severe achondroplasia-developmental delay-acanthosis nigricans syndrome autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0014658 MONDO:0019685 True severe achondroplasia-developmental delay-acanthosis nigricans syndrome FGFR3-related chondrodysplasia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014659 MONDO:0000023 True infantile liver failure syndrome 2 infantile liver failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0014660 MONDO:0016660 True microcephaly 15, primary, autosomal recessive autosomal recessive primary microcephaly UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0014660 MONDO:0016660 True microcephaly 15, primary, autosomal recessive autosomal recessive primary microcephaly UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED MONDO:0014661 MONDO:0017610 True epidermolysis bullosa simplex with nail dystrophy epidermolysis bullosa simplex UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0014662 MONDO:0015364 True congenital insensitivity to pain-hypohidrosis syndrome hereditary sensory and autonomic neuropathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0014662 MONDO:0015364 True congenital insensitivity to pain-hypohidrosis syndrome hereditary sensory and autonomic neuropathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED MONDO:0014663 MONDO:0008394 True Silver-Russell syndrome 3 Silver-Russell syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0014664 MONDO:0018772 True Joubert syndrome 23 Joubert syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0014666 MONDO:0019046 True hypomyelinating leukodystrophy 11 leukodystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0014664 MONDO:0018772 True Joubert syndrome 23 Joubert syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0014665 MONDO:0018993 True Charcot-Marie-Tooth disease axonal type 2V Charcot-Marie-Tooth disease type 2 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0014666 MONDO:0019046 True hypomyelinating leukodystrophy 11 leukodystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0014667 MONDO:0015487 True cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 3 fatal infantile encephalocardiomyopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0014668 MONDO:0015487 True cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 4 fatal infantile encephalocardiomyopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0014669 MONDO:0015993 True cone-rod dystrophy 21 cone-rod dystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0014670 MONDO:0017436 True lethal congenital contracture syndrome 9 lethal congenital contracture syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0014675 MONDO:0019588 True autosomal recessive nonsyndromic hearing loss 104 hearing loss, autosomal recessive UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0014676 MONDO:0016830 True Emery-Dreifuss muscular dystrophy 3, autosomal recessive Emery-Dreifuss muscular dystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0014674 MONDO:0018911 True maturity-onset diabetes of the young type 14 maturity-onset diabetes of the young UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED +MONDO:0014675 MONDO:0019588 True autosomal recessive nonsyndromic hearing loss 104 hearing loss, autosomal recessive UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0014676 MONDO:0016830 True Emery-Dreifuss muscular dystrophy 3, autosomal recessive Emery-Dreifuss muscular dystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0014677 MONDO:0018852 True achromatopsia 7 achromatopsia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0014678 MONDO:0100172 True intellectual disability, autosomal dominant 39 intellectual disability, autosomal dominant UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0014683 MONDO:0000171 True muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9 muscular dystrophy-dystroglycanopathy, type A UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0014684 MONDO:0000732 True combined oxidative phosphorylation defect type 26 combined oxidative phosphorylation deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0014685 MONDO:0020074 True progressive myoclonic epilepsy type 9 progressive myoclonus epilepsy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0014687 MONDO:0019200 True retinitis pigmentosa 73 retinitis pigmentosa UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0014688 MONDO:0018770 True short-rib thoracic dysplasia 14 with polydactyly Jeune syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0014689 MONDO:0001029 True Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome Klippel-Feil syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0014690 MONDO:0015780 True dyskeratosis congenita, autosomal dominant 6 dyskeratosis congenita UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0014691 MONDO:0018997 True Noonan syndrome 9 Noonan syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0014692 MONDO:0019200 True retinitis pigmentosa 74 retinitis pigmentosa UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0014693 MONDO:0018997 True Noonan syndrome 10 Noonan syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0014696 MONDO:0008926 True cerebrooculofacioskeletal syndrome 3 COFS syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0014697 MONDO:0015517 True immunodeficiency, common variable, 12 common variable immunodeficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0014684 MONDO:0000732 True combined oxidative phosphorylation defect type 26 combined oxidative phosphorylation deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0014685 MONDO:0020074 True progressive myoclonic epilepsy type 9 progressive myoclonus epilepsy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0014687 MONDO:0019200 True retinitis pigmentosa 73 retinitis pigmentosa UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0014688 MONDO:0018770 True short-rib thoracic dysplasia 14 with polydactyly Jeune syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0014689 MONDO:0001029 True Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome Klippel-Feil syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0014689 MONDO:0019952 True Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome congenital myopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS +MONDO:0014690 MONDO:0000426 True dyskeratosis congenita, autosomal dominant 6 autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0014690 MONDO:0015780 True dyskeratosis congenita, autosomal dominant 6 dyskeratosis congenita UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0014691 MONDO:0018997 True Noonan syndrome 9 Noonan syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0014692 MONDO:0019200 True retinitis pigmentosa 74 retinitis pigmentosa UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0014693 MONDO:0018997 True Noonan syndrome 10 Noonan syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0014696 MONDO:0008926 True cerebrooculofacioskeletal syndrome 3 COFS syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0014697 MONDO:0015517 True immunodeficiency, common variable, 12 common variable immunodeficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0014700 MONDO:0018681 True Au-Kline syndrome neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-hip dysplasia syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014701 MONDO:0016761 True spondyloepiphyseal dysplasia, Stanescu type spondyloepiphyseal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0014701 MONDO:0022800 True spondyloepiphyseal dysplasia, Stanescu type type 2 collagenopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014702 MONDO:0015150 True autosomal recessive complex spastic paraplegia type 9B complex hereditary spastic paraplegia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014703 MONDO:0007034 True Adams-Oliver syndrome 6 Adams-Oliver syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0014704 MONDO:0018230 True skeletal overgrowth-craniofacial dysmorphism-hyperelastic skin-white matter lesions syndrome skeletal dysplasia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014706 MONDO:0019571 True cutis laxa, autosomal dominant 3 autosomal dominant cutis laxa UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0014707 MONDO:0016964 True 14q32 duplication syndrome partial duplication of the long arm of chromosome 14 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014710 MONDO:0019146 True autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency inherited susceptibility to mycobacterial diseases UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014711 MONDO:0018993 True autosomal dominant Charcot-Marie-Tooth disease type 2W Charcot-Marie-Tooth disease type 2 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0014712 MONDO:0017842 True Senior-Loken syndrome 9 Senior-Loken syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0014717 MONDO:0020074 True early-onset Lafora body disease progressive myoclonus epilepsy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0014719 MONDO:0100062 True developmental and epileptic encephalopathy, 35 developmental and epileptic encephalopathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0014724 MONDO:0018772 True Joubert syndrome 24 Joubert syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0014715 MONDO:0003778 True primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection inborn error of immunity UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0014716 MONDO:0015159 True macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014717 MONDO:0020074 True early-onset Lafora body disease progressive myoclonus epilepsy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0014719 MONDO:0019236 True developmental and epileptic encephalopathy, 35 inborn disorder of purine metabolism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014719 MONDO:0024237 True developmental and epileptic encephalopathy, 35 inherited neurodegenerative disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014719 MONDO:0100062 True developmental and epileptic encephalopathy, 35 developmental and epileptic encephalopathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0014720 MONDO:0020250 True autosomal dominant optic atrophy plus syndrome autosomal dominant optic atrophy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014723 MONDO:0016967 True PMP22-RAI1 contiguous gene duplication syndrome partial duplication of the long arm of chromosome 17 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014724 MONDO:0018772 True Joubert syndrome 24 Joubert syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0014725 MONDO:0018162 True spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome neurometabolic disorder due to serine deficiency UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014726 MONDO:0018993 True Charcot-Marie-Tooth disease axonal type 2X Charcot-Marie-Tooth disease type 2 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0014727 MONDO:0021094 True immunodeficiency 45 immunodeficiency disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0014728 MONDO:0000732 True combined oxidative phosphorylation defect type 27 combined oxidative phosphorylation deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0014730 MONDO:0016660 True microcephaly 16, primary, autosomal recessive autosomal recessive primary microcephaly UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0014732 MONDO:0019046 True hypomyelinating leukodystrophy 12 leukodystrophy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0014738 MONDO:0019587 True autosomal dominant nonsyndromic hearing loss 69 autosomal dominant nonsyndromic hearing loss UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0014739 MONDO:0019588 True autosomal recessive nonsyndromic hearing loss 97 hearing loss, autosomal recessive UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0014740 MONDO:0019587 True autosomal dominant nonsyndromic hearing loss 68 autosomal dominant nonsyndromic hearing loss UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0014746 MONDO:0005501 True SLC39A8-CDG congenital disorder of glycosylation type II UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0014728 MONDO:0000732 True combined oxidative phosphorylation defect type 27 combined oxidative phosphorylation deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0014729 MONDO:0015150 True hereditary spastic paraplegia 75 complex hereditary spastic paraplegia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014730 MONDO:0016660 True microcephaly 16, primary, autosomal recessive autosomal recessive primary microcephaly UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0014731 MONDO:0015286 True seizures-scoliosis-macrocephaly syndrome congenital disorder of glycosylation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014732 MONDO:0019046 True hypomyelinating leukodystrophy 12 leukodystrophy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0014733 MONDO:0016387 True Charcot-Marie-Tooth disease type 4K mitochondrial oxidative phosphorylation disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014733 MONDO:0018995 True Charcot-Marie-Tooth disease type 4K Charcot-Marie-Tooth disease type 4 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0014735 MONDO:0018993 True Charcot-Marie-Tooth disease type 2Y Charcot-Marie-Tooth disease type 2 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0014736 MONDO:0018993 True Charcot-Marie-Tooth disease axonal type 2Z Charcot-Marie-Tooth disease type 2 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0014737 MONDO:0017910 True dehydrated hereditary stomatocytosis 2 dehydrated hereditary stomatocytosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0014738 MONDO:0019587 True autosomal dominant nonsyndromic hearing loss 69 autosomal dominant nonsyndromic hearing loss UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0014739 MONDO:0019588 True autosomal recessive nonsyndromic hearing loss 97 hearing loss, autosomal recessive UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0014740 MONDO:0019587 True autosomal dominant nonsyndromic hearing loss 68 autosomal dominant nonsyndromic hearing loss UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0014741 MONDO:0018760 True DeSanto-Shinawi syndrome due to WAC point mutation DeSanto-Shinawi syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014742 MONDO:0008199 True Parkinson disease 22, autosomal dominant late-onset Parkinson disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED +MONDO:0014744 MONDO:0020047 True acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome autosomal recessive syndromic cerebellar ataxia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014746 MONDO:0005501 True SLC39A8-CDG congenital disorder of glycosylation type II UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0014746 MONDO:0015159 True SLC39A8-CDG multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014746 MONDO:0017740 True SLC39A8-CDG disorder of protein N-glycosylation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014746 MONDO:0020022 True SLC39A8-CDG central nervous system malformation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014748 MONDO:0015159 True progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014749 MONDO:0005486 True tooth agenesis, selective, 7 tooth agenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0014750 MONDO:0016575 True primary ciliary dyskinesia 33 primary ciliary dyskinesia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0014754 MONDO:0018151 True primary coenzyme Q10 deficiency 8 coenzyme Q10 deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0014756 MONDO:0003233 True tremor, hereditary essential, 5 essential tremor UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0014750 MONDO:0016575 True primary ciliary dyskinesia 33 primary ciliary dyskinesia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0014751 MONDO:0015159 True palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014754 MONDO:0018151 True primary coenzyme Q10 deficiency 8 coenzyme Q10 deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0014755 MONDO:0007990 True skin creases, congenital symmetric circumferential, 2 multiple benign circumferential skin creases on limbs UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0014756 MONDO:0003233 True tremor, hereditary essential, 5 essential tremor UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0014757 MONDO:0015159 True macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014757 MONDO:0018795 True macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome syndromic constitutional thrombocytopenia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014758 MONDO:0011555 True radioulnar synostosis with amegakaryocytic thrombocytopenia 2 radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0014759 MONDO:0019502 True intellectual disability, autosomal recessive 51 autosomal recessive non-syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0014759 MONDO:0019502 True intellectual disability, autosomal recessive 51 autosomal recessive non-syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED MONDO:0014760 MONDO:0021094 True TFRC-related combined immunodeficiency immunodeficiency disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0014762 MONDO:0018677 True heterotaxy, visceral, 7, autosomal visceral heterotaxy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0014767 MONDO:0019342 True Seckel syndrome 9 Seckel syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0014768 MONDO:0007432 True cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2 cerebral arteriopathy with subcortical infarcts and leukoencephalopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0014770 MONDO:0018772 True Joubert syndrome 25 Joubert syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0014771 MONDO:0018772 True Joubert syndrome 26 Joubert syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0014775 MONDO:0000732 True combined oxidative phosphorylation deficiency 28 combined oxidative phosphorylation deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0014764 MONDO:0015150 True spastic paraplegia-severe developmental delay-epilepsy syndrome complex hereditary spastic paraplegia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014764 MONDO:0015159 True spastic paraplegia-severe developmental delay-epilepsy syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014764 MONDO:0015653 True spastic paraplegia-severe developmental delay-epilepsy syndrome monogenic epilepsy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014765 MONDO:0003847 True wooly hair, autosomal recessive 3 hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0014765 MONDO:0008686 True wooly hair, autosomal recessive 3 isolated familial wooly hair disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0014767 MONDO:0019342 True Seckel syndrome 9 Seckel syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0014768 MONDO:0007432 True cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2 cerebral arteriopathy with subcortical infarcts and leukoencephalopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0014770 MONDO:0018772 True Joubert syndrome 25 Joubert syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0014771 MONDO:0018772 True Joubert syndrome 26 Joubert syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0014773 MONDO:0015159 True cardiac anomalies - developmental delay - facial dysmorphism syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014775 MONDO:0000732 True combined oxidative phosphorylation deficiency 28 combined oxidative phosphorylation deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0014775 MONDO:0016801 True combined oxidative phosphorylation deficiency 28 mitochondrial substrate carrier disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014776 MONDO:0019793 True spinocerebellar ataxia type 42 autosomal dominant cerebellar ataxia type III UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014777 MONDO:0014176 True hypotonia, infantile, with psychomotor retardation and characteristic facies 2 hypotonia, infantile, with psychomotor retardation and characteristic facies UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0014779 MONDO:0003321 True Wilms tumor 6 hereditary Wilms tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0014780 MONDO:0016596 True hyperphosphatasia with intellectual disability syndrome 6 hyperphosphatasia-intellectual disability syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0014781 MONDO:0000732 True combined oxidative phosphorylation deficiency 29 combined oxidative phosphorylation deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0014782 MONDO:0015152 True autosomal recessive limb-girdle muscular dystrophy type 2X autosomal recessive limb-girdle muscular dystrophy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0014788 MONDO:0015152 True autosomal recessive limb-girdle muscular dystrophy type 2W autosomal recessive limb-girdle muscular dystrophy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0014789 MONDO:0005501 True CCDC115-CDG congenital disorder of glycosylation type II UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0014790 MONDO:0005501 True TMEM199-CDG congenital disorder of glycosylation type II UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0014792 MONDO:0005382 True Paget disease of bone 6 bone Paget disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0014794 MONDO:0016817 True Meier-Gorlin syndrome 6 Meier-Gorlin syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0014781 MONDO:0000732 True combined oxidative phosphorylation deficiency 29 combined oxidative phosphorylation deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0014781 MONDO:0006025 True combined oxidative phosphorylation deficiency 29 autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0014781 MONDO:0024237 True combined oxidative phosphorylation deficiency 29 inherited neurodegenerative disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014782 MONDO:0015152 True autosomal recessive limb-girdle muscular dystrophy type 2X autosomal recessive limb-girdle muscular dystrophy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0014784 MONDO:0019952 True severe hypotonia-psychomotor developmental delay-strabismus-cardiac septal defect syndrome congenital myopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0014785 MONDO:0800450 True microcephaly, short stature, and impaired glucose metabolism 2 microcephaly, short stature, and impaired glucose metabolism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0014787 MONDO:0015159 True severe intellectual disability-corpus callosum agenesis-facial dysmorphism-cerebellar ataxia syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014787 MONDO:0020022 True severe intellectual disability-corpus callosum agenesis-facial dysmorphism-cerebellar ataxia syndrome central nervous system malformation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014788 MONDO:0015152 True autosomal recessive limb-girdle muscular dystrophy type 2W autosomal recessive limb-girdle muscular dystrophy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0014789 MONDO:0005501 True CCDC115-CDG congenital disorder of glycosylation type II UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0014789 MONDO:0017749 True CCDC115-CDG disorder of multiple glycosylation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014790 MONDO:0005501 True TMEM199-CDG congenital disorder of glycosylation type II UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0014790 MONDO:0017749 True TMEM199-CDG disorder of multiple glycosylation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014792 MONDO:0005382 True Paget disease of bone 6 bone Paget disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0014793 MONDO:0019240 True microcephaly-congenital cataract-psoriasiform dermatitis syndrome sterol biosynthesis disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014794 MONDO:0016817 True Meier-Gorlin syndrome 6 Meier-Gorlin syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0014796 MONDO:0017279 True autosomal recessive early-onset Parkinson disease 23 young-onset Parkinson disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0014797 MONDO:0019313 True lymphatic malformation 6 lymphatic malformation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0014802 MONDO:0016063 True Cowden syndrome 7 Cowden disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0014798 MONDO:0021004 True brachydactyly type A1D brachydactyly UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0014800 MONDO:0016106 True progressive scapulohumeroperoneal distal myopathy progressive muscular dystrophy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014801 MONDO:0015161 True even-plus syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014802 MONDO:0016063 True Cowden syndrome 7 Cowden disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0014803 MONDO:0017845 True spasticity-ataxia-gait anomalies syndrome spastic ataxia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0014803 MONDO:0018424 True spasticity-ataxia-gait anomalies syndrome inherited lipoic acid biosynthesis defect UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014804 MONDO:0016801 True sideroblastic anemia 3 mitochondrial substrate carrier disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014806 MONDO:0000209 True spinal muscular atrophy with congenital bone fractures 1 prenatal-onset spinal muscular atrophy with congenital bone fractures UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0014807 MONDO:0000209 True spinal muscular atrophy with congenital bone fractures 2 prenatal-onset spinal muscular atrophy with congenital bone fractures UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0014810 MONDO:0015517 True pancytopenia due to IKZF1 mutations common variable immunodeficiency UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0014813 MONDO:0019046 True hypomyelinating leukodystrophy 13 leukodystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0014814 MONDO:0015609 True advanced sleep phase syndrome 3 advanced sleep phase syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0014815 MONDO:0019502 True intellectual disability, autosomal recessive 52 autosomal recessive non-syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0014820 MONDO:0018158 True mitochondrial DNA depletion syndrome 14 (cardioencephalomyopathic type) mitochondrial DNA depletion syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0014809 MONDO:0015356 True DDX41-related hematologic malignancy predisposition syndrome hereditary neoplastic syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014810 MONDO:0015517 True pancytopenia due to IKZF1 mutations common variable immunodeficiency UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0014813 MONDO:0019046 True hypomyelinating leukodystrophy 13 leukodystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0014814 MONDO:0015609 True advanced sleep phase syndrome 3 advanced sleep phase syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0014815 MONDO:0019502 True intellectual disability, autosomal recessive 52 autosomal recessive non-syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0014816 MONDO:0015161 True split-foot malformation-mesoaxial polydactyly syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014816 MONDO:0018234 True split-foot malformation-mesoaxial polydactyly syndrome dysostosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014816 MONDO:0019054 True split-foot malformation-mesoaxial polydactyly syndrome congenital limb malformation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014820 MONDO:0018158 True mitochondrial DNA depletion syndrome 14 (cardioencephalomyopathic type) mitochondrial DNA depletion syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0014821 MONDO:0018230 True complex lethal osteochondrodysplasia skeletal dysplasia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014822 MONDO:0016913 True 15q14 microdeletion syndrome partial deletion of the long arm of chromosome 15 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014823 MONDO:0014176 True hypotonia, infantile, with psychomotor retardation and characteristic facies 3 hypotonia, infantile, with psychomotor retardation and characteristic facies UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0014828 MONDO:0000133 True immunodeficiency-centromeric instability-facial anomalies syndrome 3 immunodeficiency-centromeric instability-facial anomalies syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0014829 MONDO:0000133 True immunodeficiency-centromeric instability-facial anomalies syndrome 4 immunodeficiency-centromeric instability-facial anomalies syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0014830 MONDO:0000009 True platelet-type bleeding disorder 20 inherited bleeding disorder, platelet-type UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0014827 MONDO:0015150 True autosomal recessive spastic paraplegia type 76 complex hereditary spastic paraplegia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014828 MONDO:0000133 True immunodeficiency-centromeric instability-facial anomalies syndrome 3 immunodeficiency-centromeric instability-facial anomalies syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0014829 MONDO:0000133 True immunodeficiency-centromeric instability-facial anomalies syndrome 4 immunodeficiency-centromeric instability-facial anomalies syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0014830 MONDO:0000009 True platelet-type bleeding disorder 20 inherited bleeding disorder, platelet-type UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0014832 MONDO:0017748 True intellectual disability, autosomal recessive 53 inborn disorder of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014835 MONDO:0000211 True striatal degeneration, autosomal dominant 2 striatal degeneration, autosomal dominant UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0014838 MONDO:0015452 True Coffin-Siris syndrome 5 Coffin-Siris syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0014841 MONDO:0018053 True trichothiodystrophy 6, nonphotosensitive trichothiodystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0014836 MONDO:0018993 True Charcot-Marie-Tooth disease axonal type 2CC Charcot-Marie-Tooth disease type 2 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0014837 MONDO:0018795 True thrombocytopenia 6 syndromic constitutional thrombocytopenia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014837 MONDO:0020076 True thrombocytopenia 6 myeloproliferative neoplasm UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014838 MONDO:0015452 True Coffin-Siris syndrome 5 Coffin-Siris syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0014841 MONDO:0018053 True trichothiodystrophy 6, nonphotosensitive trichothiodystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0014842 MONDO:0015802 True intellectual disability, autosomal dominant 41 autosomal dominant non-syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0014843 MONDO:0019852 True premature ovarian failure 11 inherited primary ovarian failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0014844 MONDO:0019852 True premature ovarian failure 12 inherited primary ovarian failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0014845 MONDO:0015244 True spinocerebellar ataxia, autosomal recessive 22 autosomal recessive cerebellar ataxia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0014847 MONDO:0004983 True spermatogenic failure 15 spermatogenic failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0014845 MONDO:0015244 True spinocerebellar ataxia, autosomal recessive 22 autosomal recessive cerebellar ataxia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0014846 MONDO:0018446 True spinocerebellar ataxia, autosomal recessive 23 autosomal recessive cerebellar ataxia - epilepsy - intellectual disability syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014847 MONDO:0004983 True spermatogenic failure 15 spermatogenic failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0014848 MONDO:0015159 True TELO2-related intellectual disability-neurodevelopmental disorder multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014851 MONDO:0000212 True hypercalcemia, infantile, 2 hypercalcemia, infantile UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0014853 MONDO:0019587 True autosomal dominant nonsyndromic hearing loss 70 autosomal dominant nonsyndromic hearing loss UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0014854 MONDO:0019587 True autosomal dominant nonsyndromic hearing loss 66 autosomal dominant nonsyndromic hearing loss UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0014856 MONDO:0000732 True combined oxidative phosphorylation defect type 30 combined oxidative phosphorylation deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0014859 MONDO:0100062 True developmental and epileptic encephalopathy, 37 developmental and epileptic encephalopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0014853 MONDO:0019587 True autosomal dominant nonsyndromic hearing loss 70 autosomal dominant nonsyndromic hearing loss UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0014854 MONDO:0019587 True autosomal dominant nonsyndromic hearing loss 66 autosomal dominant nonsyndromic hearing loss UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0014855 MONDO:0015802 True intellectual disability, autosomal dominant 42 autosomal dominant non-syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0014856 MONDO:0000732 True combined oxidative phosphorylation defect type 30 combined oxidative phosphorylation deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0014858 MONDO:0015802 True intellectual disability, autosomal dominant 43 autosomal dominant non-syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0014859 MONDO:0100062 True developmental and epileptic encephalopathy, 37 developmental and epileptic encephalopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED MONDO:0014860 MONDO:0000447 True polycystic liver disease 2 autosomal dominant polycystic liver disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0014861 MONDO:0000213 True autoimmune disease, multisystem, infantile-onset, 2 autoimmune disease, multisystem, infantile-onset UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0014862 MONDO:0016215 True cerebral palsy, spastic quadriplegic, 3 spastic quadriplegic cerebral palsy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0014864 MONDO:0000214 True hypermanganesemia with dystonia 2 hypermanganesemia with dystonia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0014867 MONDO:0020380 True spinocerebellar ataxia 43 autosomal dominant cerebellar ataxia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0014868 MONDO:0100062 True developmental and epileptic encephalopathy, 38 developmental and epileptic encephalopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0014862 MONDO:0016215 True cerebral palsy, spastic quadriplegic, 3 spastic quadriplegic cerebral palsy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0014864 MONDO:0000214 True hypermanganesemia with dystonia 2 hypermanganesemia with dystonia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0014864 MONDO:0017766 True hypermanganesemia with dystonia 2 disorder of manganese transport UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014865 MONDO:0028226 True autosomal recessive severe congenital neutropenia due to CSF3R deficiency autosomal recessive severe congenital neutropenia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014866 MONDO:0018993 True Charcot-Marie-Tooth disease axonal type 2T Charcot-Marie-Tooth disease type 2 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0014867 MONDO:0020380 True spinocerebellar ataxia 43 autosomal dominant cerebellar ataxia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0014868 MONDO:0100062 True developmental and epileptic encephalopathy, 38 developmental and epileptic encephalopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0014869 MONDO:0016387 True hydrops-lactic acidosis-sideroblastic anemia-multisystemic failure syndrome mitochondrial oxidative phosphorylation disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014870 MONDO:0015929 True NEK9-related lethal skeletal dysplasia thoracic malformation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014870 MONDO:0017436 True NEK9-related lethal skeletal dysplasia lethal congenital contracture syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0014871 MONDO:0019200 True retinitis pigmentosa 75 retinitis pigmentosa UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0014872 MONDO:0016293 True congenital stationary night blindness 1H congenital stationary night blindness UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0014875 MONDO:0016525 True hyperaldosteronism, familial, type IV familial hyperaldosteronism UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0014876 MONDO:0019502 True intellectual disability, autosomal recessive 54 autosomal recessive non-syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0014877 MONDO:0018949 True myopathy, distal, 5 distal myopathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0014870 MONDO:0019691 True NEK9-related lethal skeletal dysplasia short rib dysplasia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014871 MONDO:0019200 True retinitis pigmentosa 75 retinitis pigmentosa UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0014872 MONDO:0016293 True congenital stationary night blindness 1H congenital stationary night blindness UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0014874 MONDO:0016759 True pontocerebellar hypoplasia, type 2F pontocerebellar hypoplasia type 2 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0014875 MONDO:0016525 True hyperaldosteronism, familial, type IV familial hyperaldosteronism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0014876 MONDO:0019502 True intellectual disability, autosomal recessive 54 autosomal recessive non-syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0014877 MONDO:0018949 True myopathy, distal, 5 distal myopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0014878 MONDO:0011827 True patent ductus arteriosus 2 patent ductus arteriosus UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0014880 MONDO:0007473 True Duane retraction syndrome 3 with or without deafness Duane retraction syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0014882 MONDO:0019064 True hereditary spastic paraplegia 77 hereditary spastic paraplegia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0014883 MONDO:0024573 True hypertrophic cardiomyopathy 26 familial hypertrophic cardiomyopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0014884 MONDO:0015762 True cholestasis, progressive familial intrahepatic, 5 progressive familial intrahepatic cholestasis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0014881 MONDO:0015159 True transketolase deficiency multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014881 MONDO:0019231 True transketolase deficiency inborn disorder of pentose phosphate metabolism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014882 MONDO:0016387 True hereditary spastic paraplegia 77 mitochondrial oxidative phosphorylation disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014882 MONDO:0019064 True hereditary spastic paraplegia 77 hereditary spastic paraplegia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0014883 MONDO:0024573 True hypertrophic cardiomyopathy 26 familial hypertrophic cardiomyopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0014884 MONDO:0015762 True cholestasis, progressive familial intrahepatic, 5 progressive familial intrahepatic cholestasis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED MONDO:0014885 MONDO:0019312 True Hermansky-Pudlak syndrome 10 Hermansky-Pudlak syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0014886 MONDO:0015159 True severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014886 MONDO:0019289 True severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome hyperpigmentation of the skin UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014887 MONDO:0000159 True bone marrow failure syndrome 3 bone marrow failure syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0014888 MONDO:0002254 True MIRAGE syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014889 MONDO:0003122 True striatonigral degeneration, childhood-onset striatonigral degeneration UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0014890 MONDO:0015526 True PERCHING syndrome cold-induced sweating syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0014889 MONDO:0044807 True striatonigral degeneration, childhood-onset inherited dystonia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0014890 MONDO:0015526 True PERCHING syndrome cold-induced sweating syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED MONDO:0014891 MONDO:0000608 True hyperuricemic nephropathy, familial juvenile type 4 familial juvenile hyperuricemic nephropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0014892 MONDO:0015159 True micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014892 MONDO:0100172 True micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome intellectual disability, autosomal dominant UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0014894 MONDO:0016817 True Meier-Gorlin syndrome 7 Meier-Gorlin syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0014895 MONDO:0100062 True developmental and epileptic encephalopathy, 40 developmental and epileptic encephalopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0014894 MONDO:0016817 True Meier-Gorlin syndrome 7 Meier-Gorlin syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0014895 MONDO:0100062 True developmental and epileptic encephalopathy, 40 developmental and epileptic encephalopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0014896 MONDO:0019950 True congenital muscular dystrophy-respiratory failure-skin abnormalities-joint hyperlaxity syndrome congenital muscular dystrophy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014898 MONDO:0000090 True progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 3 progressive external ophthalmoplegia with mitochondrial DNA deletions UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0014899 MONDO:0000090 True progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4 progressive external ophthalmoplegia with mitochondrial DNA deletions UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0014900 MONDO:0015152 True autosomal recessive limb-girdle muscular dystrophy type 2Y autosomal recessive limb-girdle muscular dystrophy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0014900 MONDO:0015152 True autosomal recessive limb-girdle muscular dystrophy type 2Y autosomal recessive limb-girdle muscular dystrophy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED MONDO:0014901 MONDO:0005486 True tooth agenesis, selective, 8 tooth agenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0014903 MONDO:0017615 True seizures, benign familial infantile, 5 benign familial infantile epilepsy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0014904 MONDO:0005500 True congenital disorder of glycosylation, type IAA congenital disorder of glycosylation type I UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0014905 MONDO:0054865 True encephalopathy due to defective mitochondrial and peroxisomal fission 2 encephalopathy due to mitochondrial and peroxisomal fission defect UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0014906 MONDO:0015626 True Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2a2b; Charcot-Marie-Tooth disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0014903 MONDO:0017615 True seizures, benign familial infantile, 5 benign familial infantile epilepsy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0014904 MONDO:0005500 True congenital disorder of glycosylation, type IAA congenital disorder of glycosylation type I UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0014905 MONDO:0054865 True encephalopathy due to defective mitochondrial and peroxisomal fission 2 encephalopathy due to mitochondrial and peroxisomal fission defect UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0014906 MONDO:0015626 True Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2a2b; Charcot-Marie-Tooth disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED MONDO:0014907 MONDO:0018770 True short-rib thoracic dysplasia 15 with polydactyly Jeune syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0014908 MONDO:0016660 True microcephaly 17, primary, autosomal recessive autosomal recessive primary microcephaly UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0014909 MONDO:0016575 True primary ciliary dyskinesia 34 primary ciliary dyskinesia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0014910 MONDO:0016575 True primary ciliary dyskinesia 35 primary ciliary dyskinesia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0014908 MONDO:0016660 True microcephaly 17, primary, autosomal recessive autosomal recessive primary microcephaly UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0014909 MONDO:0016575 True primary ciliary dyskinesia 34 primary ciliary dyskinesia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0014910 MONDO:0016575 True primary ciliary dyskinesia 35 primary ciliary dyskinesia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0014912 MONDO:0005046 True infantile-onset periodic fever-panniculitis-dermatosis syndrome immune system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0014912 MONDO:0017953 True infantile-onset periodic fever-panniculitis-dermatosis syndrome hereditary periodic fever syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014915 MONDO:0018770 True short-rib thoracic dysplasia 16 with or without polydactyly Jeune syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0014920 MONDO:0020381 True patterned macular dystrophy 3 patterned macular dystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0014922 MONDO:0018943 True myofibrillar myopathy 7 myofibrillar myopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0014918 MONDO:0015159 True tall stature-intellectual disability-renal anomalies syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014920 MONDO:0020381 True patterned macular dystrophy 3 patterned macular dystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0014922 MONDO:0018943 True myofibrillar myopathy 7 myofibrillar myopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED MONDO:0014923 MONDO:0019347 True peeling skin syndrome 5 peeling skin syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0014924 MONDO:0020310 True epilepsy, familial focal, with variable foci 2 familial focal epilepsy with variable foci UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0014925 MONDO:0020310 True epilepsy, familial focal, with variable foci 3 familial focal epilepsy with variable foci UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0014926 MONDO:0015229 True Bardet-Biedl syndrome 22 Bardet-Biedl syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0014927 MONDO:0018772 True Joubert syndrome 27 Joubert syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0014928 MONDO:0018772 True Joubert syndrome 28 Joubert syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0014926 MONDO:0015229 True Bardet-Biedl syndrome 22 Bardet-Biedl syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0014927 MONDO:0018772 True Joubert syndrome 27 Joubert syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0014928 MONDO:0018772 True Joubert syndrome 28 Joubert syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED MONDO:0014929 MONDO:0019200 True retinitis pigmentosa 76 retinitis pigmentosa UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0014930 MONDO:0019502 True intellectual disability, autosomal recessive 56 autosomal recessive non-syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0014930 MONDO:0019502 True intellectual disability, autosomal recessive 56 autosomal recessive non-syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED MONDO:0014932 MONDO:0015375 True orofaciodigital syndrome XV orofaciodigital syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0014935 MONDO:0015942 True frontometaphyseal dysplasia 2 frontometaphyseal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0014935 MONDO:0015942 True frontometaphyseal dysplasia 2 frontometaphyseal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0014936 MONDO:0015159 True ZTTK syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014937 MONDO:0007119 True aniridia 2 isolated aniridia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0014938 MONDO:0007119 True aniridia 3 isolated aniridia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0014939 MONDO:0018940 True congenital myasthenic syndrome 20 congenital myasthenic syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0014943 MONDO:0018158 True mitochondrial DNA depletion syndrome 15 (hepatocerebral type) mitochondrial DNA depletion syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0014939 MONDO:0018940 True congenital myasthenic syndrome 20 congenital myasthenic syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0014943 MONDO:0018158 True mitochondrial DNA depletion syndrome 15 (hepatocerebral type) mitochondrial DNA depletion syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0014944 MONDO:0015159 True short stature-brachydactyly-obesity-global developmental delay syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014944 MONDO:0019695 True short stature-brachydactyly-obesity-global developmental delay syndrome acromelic dysplasia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014945 MONDO:0018949 True myopathy, distal, with rimmed vacuoles distal myopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED MONDO:0014950 MONDO:0019625 True aortic aneurysm, familial thoracic 10 familial thoracic aortic aneurysm and aortic dissection UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0014951 MONDO:0019502 True intellectual developmental disorder, autosomal recessive 74 autosomal recessive non-syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0014959 MONDO:0018158 True mitochondrial DNA depletion syndrome 12A (cardiomyopathic type), autosomal dominant mitochondrial DNA depletion syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0014961 MONDO:0004983 True spermatogenic failure 16 spermatogenic failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0014962 MONDO:0019502 True intellectual disability, autosomal recessive 57 autosomal recessive non-syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0014951 MONDO:0019502 True intellectual developmental disorder, autosomal recessive 74 autosomal recessive non-syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0014953 MONDO:0006025 True gnb5-related intellectual disability-cardiac arrhythmia syndrome autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0014959 MONDO:0018158 True mitochondrial DNA depletion syndrome 12A (cardiomyopathic type), autosomal dominant mitochondrial DNA depletion syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0014961 MONDO:0004983 True spermatogenic failure 16 spermatogenic failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0014962 MONDO:0019502 True intellectual disability, autosomal recessive 57 autosomal recessive non-syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED MONDO:0014965 MONDO:0017436 True lethal congenital contracture syndrome 11 lethal congenital contracture syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0014966 MONDO:0020341 True periventricular nodular heterotopia 7 periventricular nodular heterotopia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0014967 MONDO:0018677 True heterotaxy, visceral, 8, autosomal visceral heterotaxy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0014970 MONDO:0004983 True spermatogenic failure 17 spermatogenic failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0014976 MONDO:0000732 True lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome combined oxidative phosphorylation deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0014977 MONDO:0015152 True autosomal recessive limb-girdle muscular dystrophy type 2R1 autosomal recessive limb-girdle muscular dystrophy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0014969 MONDO:0019231 True isolated sedoheptulokinase deficiency inborn disorder of pentose phosphate metabolism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014970 MONDO:0004983 True spermatogenic failure 17 spermatogenic failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0014975 MONDO:0006025 True autosomal recessive spastic paraplegia type 78 autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0014975 MONDO:0015150 True autosomal recessive spastic paraplegia type 78 complex hereditary spastic paraplegia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014976 MONDO:0000732 True lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome combined oxidative phosphorylation deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0014977 MONDO:0015152 True autosomal recessive limb-girdle muscular dystrophy type 2R1 autosomal recessive limb-girdle muscular dystrophy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0014977 MONDO:0017741 True autosomal recessive limb-girdle muscular dystrophy type 2R1 disorder of protein O-glycosylation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014981 MONDO:0003778 True immunodeficiency 49 inborn error of immunity UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0014981 MONDO:0031520 True immunodeficiency 49 familial severe combined immunodeficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0014982 MONDO:0001384 True myopia 25, autosomal dominant myopia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0014983 MONDO:0018940 True congenital myasthenic syndrome 21 congenital myasthenic syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0014985 MONDO:0019391 True Fanconi anemia complementation group V Fanconi anemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0014986 MONDO:0019391 True Fanconi anemia complementation group R Fanconi anemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0014987 MONDO:0019391 True Fanconi anemia complementation group U Fanconi anemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0014991 MONDO:0019342 True Seckel syndrome 10 Seckel syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0014992 MONDO:0018838 True lissencephaly 8 lissencephaly spectrum disorders UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0014993 MONDO:0018943 True myofibrillar myopathy 8 myofibrillar myopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0014996 MONDO:0019502 True intellectual disability, autosomal recessive 58 autosomal recessive non-syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0014997 MONDO:0019005 True nephronophthisis 20 nephronophthisis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0014983 MONDO:0018940 True congenital myasthenic syndrome 21 congenital myasthenic syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0014985 MONDO:0019391 True Fanconi anemia complementation group V Fanconi anemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0014986 MONDO:0019391 True Fanconi anemia complementation group R Fanconi anemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0014987 MONDO:0019391 True Fanconi anemia complementation group U Fanconi anemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0014991 MONDO:0019342 True Seckel syndrome 10 Seckel syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0014992 MONDO:0018838 True lissencephaly 8 lissencephaly spectrum disorders UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0014993 MONDO:0018943 True myofibrillar myopathy 8 myofibrillar myopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0014996 MONDO:0019502 True intellectual disability, autosomal recessive 58 autosomal recessive non-syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0014997 MONDO:0019005 True nephronophthisis 20 nephronophthisis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED MONDO:0014999 MONDO:0005486 True tooth agenesis, selective, 9 tooth agenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0015000 MONDO:0100062 True developmental and epileptic encephalopathy, 48 developmental and epileptic encephalopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0015000 MONDO:0100062 True developmental and epileptic encephalopathy, 48 developmental and epileptic encephalopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED MONDO:0015001 MONDO:0018054 True atrial fibrillation, familial, 18 familial atrial fibrillation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0015002 MONDO:0100062 True developmental and epileptic encephalopathy, 49 developmental and epileptic encephalopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0015003 MONDO:0044807 True dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities inherited dystonia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0015004 MONDO:0044807 True dystonia 28, childhood-onset inherited dystonia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0015006 MONDO:0017610 True epidermolysis bullosa simplex 6, generalized, with scarring and hair loss epidermolysis bullosa simplex UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0015002 MONDO:0100062 True developmental and epileptic encephalopathy, 49 developmental and epileptic encephalopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0015003 MONDO:0018424 True dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities inherited lipoic acid biosynthesis defect UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015003 MONDO:0024237 True dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities inherited neurodegenerative disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015003 MONDO:0044807 True dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities inherited dystonia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0015004 MONDO:0044807 True dystonia 28, childhood-onset inherited dystonia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0015006 MONDO:0017610 True epidermolysis bullosa simplex 6, generalized, with scarring and hair loss epidermolysis bullosa simplex UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0015007 MONDO:0015087 True spastic paraplegia, intellectual disability, nystagmus, and obesity autosomal dominant complex spastic paraplegia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015009 MONDO:0019313 True lymphatic malformation 7 lymphatic malformation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0015010 MONDO:0011612 True atypical glycine encephalopathy glycine encephalopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0015011 MONDO:0043878 True optic atrophy 11 hereditary optic atrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0015013 MONDO:0019200 True retinitis pigmentosa 77 retinitis pigmentosa UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0015015 MONDO:0018841 True congenital bile acid synthesis defect 6 congenital bile acid synthesis defect UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0015016 MONDO:0019503 True anterior segment dysgenesis 6 anterior segment dysgenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0015017 MONDO:0019503 True anterior segment dysgenesis 8 anterior segment dysgenesis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0015012 MONDO:0015159 True mucopolysaccharidosis-plus syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015013 MONDO:0019200 True retinitis pigmentosa 77 retinitis pigmentosa UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0015015 MONDO:0018841 True congenital bile acid synthesis defect 6 congenital bile acid synthesis defect UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0015016 MONDO:0019503 True anterior segment dysgenesis 6 anterior segment dysgenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0015017 MONDO:0019503 True anterior segment dysgenesis 8 anterior segment dysgenesis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED MONDO:0015018 MONDO:0017265 True ichthyosis, congenital, autosomal recessive 12 autosomal recessive congenital ichthyosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0015020 MONDO:0019502 True intellectual disability, autosomal recessive 59 autosomal recessive non-syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0015023 MONDO:0018958 True MYPN-related myopathy nemaline myopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0015024 MONDO:0019287 True ectodermal dysplasia 12, hypohidrotic/hair/tooth/nail type ectodermal dysplasia syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0015025 MONDO:0100062 True developmental and epileptic encephalopathy, 51 developmental and epileptic encephalopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0015020 MONDO:0019502 True intellectual disability, autosomal recessive 59 autosomal recessive non-syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0015021 MONDO:0003847 True hypotonia, ataxia, and delayed development syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0015023 MONDO:0018958 True MYPN-related myopathy nemaline myopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0015024 MONDO:0019287 True ectodermal dysplasia 12, hypohidrotic/hair/tooth/nail type ectodermal dysplasia syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0015025 MONDO:0100062 True developmental and epileptic encephalopathy, 51 developmental and epileptic encephalopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED MONDO:0015026 MONDO:0012815 True cerebroretinal microangiopathy with calcifications and cysts 2 Coats plus syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0015027 MONDO:0015356 True familial isolated hyperparathyroidism hereditary neoplastic syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015028 MONDO:0002254 True 48,XXYY syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015032 MONDO:0019404 True intraneural perineurioma perineurioma UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0015040 MONDO:0019454 True myelodysplastic syndrome with excess blasts-1 myelodysplastic syndrome with excess blasts UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015041 MONDO:0019454 True myelodysplastic syndrome with excess blasts-2 myelodysplastic syndrome with excess blasts UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015044 MONDO:0019464 True mu-heavy chain disease heavy chain disease UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0015045 MONDO:0019464 True alpha-heavy chain disease heavy chain disease UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0015046 MONDO:0019464 True gamma-heavy chain disease heavy chain disease UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0015027 MONDO:0016365 True familial isolated hyperparathyroidism familial primary hyperparathyroidism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015028 MONDO:0017975 True 48,XXYY syndrome sex chromosome disorder of sex development UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015029 MONDO:0015031 True reticular perineurioma extraneural perineurioma UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015030 MONDO:0015031 True sclerosing perineurioma extraneural perineurioma UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015031 MONDO:0019404 True extraneural perineurioma perineurioma UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015032 MONDO:0019404 True intraneural perineurioma perineurioma UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0015034 MONDO:0019450 True lissencephaly with cerebellar hypoplasia type A lissencephaly with cerebellar hypoplasia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015035 MONDO:0019450 True lissencephaly with cerebellar hypoplasia type B lissencephaly with cerebellar hypoplasia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015036 MONDO:0019450 True lissencephaly with cerebellar hypoplasia type C lissencephaly with cerebellar hypoplasia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015037 MONDO:0019450 True lissencephaly with cerebellar hypoplasia type D lissencephaly with cerebellar hypoplasia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015038 MONDO:0019450 True lissencephaly with cerebellar hypoplasia type E lissencephaly with cerebellar hypoplasia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015039 MONDO:0019450 True lissencephaly with cerebellar hypoplasia type F lissencephaly with cerebellar hypoplasia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015040 MONDO:0019454 True myelodysplastic syndrome with excess blasts-1 myelodysplastic syndrome with excess blasts UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015041 MONDO:0019454 True myelodysplastic syndrome with excess blasts-2 myelodysplastic syndrome with excess blasts UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015042 MONDO:0005615 True primary plasmacytoma of the bone plasmacytoma UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015043 MONDO:0005615 True extramedullary soft tissue plasmacytoma plasmacytoma UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015044 MONDO:0019464 True mu-heavy chain disease heavy chain disease UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0015045 MONDO:0019464 True alpha-heavy chain disease heavy chain disease UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0015046 MONDO:0019464 True gamma-heavy chain disease heavy chain disease UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0015047 MONDO:0019507 True amelogenesis imperfecta type 1 amelogenesis imperfecta UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015048 MONDO:0019507 True amelogenesis imperfecta type 2 amelogenesis imperfecta UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015053 MONDO:0033946 True hereditary angioedema type 1 hereditary angioedema with C1Inh deficiency UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015054 MONDO:0033946 True hereditary angioedema type 2 hereditary angioedema with C1Inh deficiency UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015055 MONDO:0019624 True acquired angioedema type 2 acquired angioedema UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015056 MONDO:0019624 True acquired angioedema type 1 acquired angioedema UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015057 MONDO:0019624 True renin-angiotensin-aldosterone system-blocker-induced angioedema acquired angioedema UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015061 MONDO:0005979 True neurogenic thoracic outlet syndrome thoracic outlet syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015062 MONDO:0000386 True gastric neuroendocrine tumor, well differentiated, low or intermediate grade digestive system neuroendocrine tumor, grade 1/2 UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015062 MONDO:0003111 True gastric neuroendocrine tumor, well differentiated, low or intermediate grade gastric neuroendocrine neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015063 MONDO:0002995 True duodenal neuroendocrine tumor, well differentiated, low or intermediate grade small intestine neuroendocrine tumor, well differentiated, low or intermediate grade UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -7685,6 +12699,7 @@ MONDO:0015064 MONDO:0002564 True jejunal neuroendocrine tumor, well differentiat MONDO:0015064 MONDO:0002995 True jejunal neuroendocrine tumor, well differentiated, low or intermediate grade small intestine neuroendocrine tumor, well differentiated, low or intermediate grade UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015065 MONDO:0002995 True ileal neuroendocrine tumor, well differentiated, low or intermediate grade small intestine neuroendocrine tumor, well differentiated, low or intermediate grade UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015065 MONDO:0006801 True ileal neuroendocrine tumor, well differentiated, low or intermediate grade ileal neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015066 MONDO:0018511 True neuroendocrine tumor of the appendix, well differentiated, low or intermediate grade epithelial tumor of the appendix UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015066 MONDO:0024501 True neuroendocrine tumor of the appendix, well differentiated, low or intermediate grade appendix neuroendocrine neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015067 MONDO:0000386 True neuroendocrine tumor of the colon, well differentiated, low or intermediate grade tumor digestive system neuroendocrine tumor, grade 1/2 UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015067 MONDO:0002882 True neuroendocrine tumor of the colon, well differentiated, low or intermediate grade tumor colon neuroendocrine neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -7692,246 +12707,969 @@ MONDO:0015068 MONDO:0000386 True neuroendocrine tumor of rectum, well differenti MONDO:0015068 MONDO:0003646 True neuroendocrine tumor of rectum, well differentiated, low or intermediate grade rectum neuroendocrine neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015069 MONDO:0003504 True neuroendocrine tumor of the anal canal anal canal neuroendocrine neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015070 MONDO:0005586 True laryngeal neuroendocrine neoplasm head and neck neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015070 MONDO:0019496 True laryngeal neuroendocrine neoplasm neuroendocrine neoplasm UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0015070 MONDO:0019496 True laryngeal neuroendocrine neoplasm neuroendocrine neoplasm UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0015070 MONDO:0021071 True laryngeal neuroendocrine neoplasm laryngeal neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015070 MONDO:0024623 True laryngeal neuroendocrine neoplasm otorhinolaryngologic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015071 MONDO:0019496 True middle ear neuroendocrine tumor neuroendocrine neoplasm UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015072 MONDO:0002120 True liver neuroendocrine carcinoma neuroendocrine carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015072 MONDO:0018531 True liver neuroendocrine carcinoma carcinoma of liver and intrahepatic biliary tract UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015072 MONDO:0024503 True liver neuroendocrine carcinoma digestive system neuroendocrine neoplasm UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015073 MONDO:0000386 True gallbladder neuroendocrine tumor, grade 1/2 digestive system neuroendocrine tumor, grade 1/2 UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015073 MONDO:0024502 True gallbladder neuroendocrine tumor, grade 1/2 gallbladder neuroendocrine neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015074 MONDO:0003240 True thyroid tumor thyroid gland disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015075 MONDO:0002108 True thyroid gland carcinoma thyroid cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0015075 MONDO:0004993 True thyroid gland carcinoma carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0015104 MONDO:0002406 True porphyria cutanea tarda dermatitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0015128 MONDO:0005495 True primary adrenal insufficiency adrenal gland disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015129 MONDO:0000004 True chronic primary adrenal insufficiency adrenocortical insufficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0015129 MONDO:0015128 True chronic primary adrenal insufficiency primary adrenal insufficiency UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015131 MONDO:0021094 True combined immunodeficiency immunodeficiency disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015134 MONDO:0009332 True constitutional neutropenia congenital hematological disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015194 MONDO:0002280 True sideroblastic anemia anemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0015228 MONDO:0002254 True pentasomy X syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015229 MONDO:0002254 True Bardet-Biedl syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0015231 MONDO:0002254 True Bartter syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0015243 MONDO:0005657 True allergic bronchopulmonary aspergillosis aspergillosis SUPPORTED UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0015249 MONDO:0003767 True mitral atresia disorder mitral valve disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015249 MONDO:0005453 True mitral atresia disorder congenital heart disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015253 MONDO:0001705 True Diamond-Blackfan anemia pure red-cell aplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0015263 MONDO:0002254 True Brugada syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0015267 MONDO:0002254 True Feingold syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0015268 MONDO:0002473 True medullary sponge kidney cystic kidney disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015075 MONDO:0002108 True thyroid gland carcinoma thyroid cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0015075 MONDO:0004993 True thyroid gland carcinoma carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0015079 MONDO:0015126 True multiple polyglandular tumor polyendocrinopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015082 MONDO:0004907 True alopecia antibody deficiency alopecia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015085 MONDO:0017265 True bathing suit ichthyosis autosomal recessive congenital ichthyosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015086 MONDO:0015338 True cloverleaf skull-asphyxiating thoracic dysplasia syndrome syndromic craniosynostosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015087 MONDO:0015150 True autosomal dominant complex spastic paraplegia complex hereditary spastic paraplegia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015092 MONDO:0016064 True cleft hard palate cleft palate UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015093 MONDO:0016292 True sub-cortical nodular heterotopia nodular neuronal heterotopia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015094 MONDO:0016292 True subependymal nodular heterotopia nodular neuronal heterotopia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015097 MONDO:0017735 True aortic valve dysplasia congenital aortic valve stenosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015099 MONDO:0017092 True unilateral hemispheric polymicrogyria unilateral polymicrogyria UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015100 MONDO:0019453 True aregenerative anemia myelodysplastic syndrome with multilineage dysplasia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015101 MONDO:0007946 True Marin-Amat syndrome jaw-winking syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015103 MONDO:0020064 True pulmonary valve agenesis-tetralogy of fallot-absence of ductus arteriosus syndrome pulmonary valve agenesis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015104 MONDO:0002520 True porphyria cutanea tarda hepatic porphyria UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0015109 MONDO:0019817 True congenital anomaly of the mitral subvalvular apparatus congenital mitral valve insufficiency and/or stenosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015129 MONDO:0000004 True chronic primary adrenal insufficiency adrenocortical insufficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0015129 MONDO:0015128 True chronic primary adrenal insufficiency primary adrenal insufficiency UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015137 MONDO:0019751 True periodic fever syndrome autoinflammatory syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015140 MONDO:0015547 True early-onset autosomal dominant Alzheimer disease hereditary dementia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015140 MONDO:0024237 True early-onset autosomal dominant Alzheimer disease inherited neurodegenerative disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015146 MONDO:0018838 True classic lissencephaly lissencephaly spectrum disorders UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015148 MONDO:0018838 True lissencephaly type 3 lissencephaly spectrum disorders UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0015149 MONDO:0019064 True pure hereditary spastic paraplegia hereditary spastic paraplegia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015150 MONDO:0019064 True complex hereditary spastic paraplegia hereditary spastic paraplegia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015151 MONDO:0000426 True muscular dystrophy, limb-girdle, autosomal dominant autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0015151 MONDO:0016971 True muscular dystrophy, limb-girdle, autosomal dominant limb-girdle muscular dystrophy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0015152 MONDO:0006025 True autosomal recessive limb-girdle muscular dystrophy autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0015152 MONDO:0016971 True autosomal recessive limb-girdle muscular dystrophy limb-girdle muscular dystrophy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0015157 MONDO:0017341 True human herpesvirus 8-related tumor virus associated tumor UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015158 MONDO:0015137 True unexplained periodic fever syndrome periodic fever syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015159 MONDO:0019042 True multiple congenital anomalies/dysmorphic syndrome-intellectual disability multiple congenital anomalies/dysmorphic syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015161 MONDO:0019042 True multiple congenital anomalies/dysmorphic syndrome without intellectual disability multiple congenital anomalies/dysmorphic syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015164 MONDO:0019457 True acute myeloid leukemia and myelodysplastic syndromes related to alkylating agent therapy related acute myeloid leukemia and myelodysplastic syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015165 MONDO:0019457 True acute myeloid leukemia and myelodysplastic syndromes related to topoisomerase type 2 inhibitor therapy related acute myeloid leukemia and myelodysplastic syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015166 MONDO:0018874 True acute myeloid leukemia with t(8;21)(q22;q22) translocation acute myeloid leukemia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015167 MONDO:0018234 True amniotic band syndrome dysostosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015168 MONDO:0003847 True arthrogryposis multiplex congenita hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0015168 MONDO:0015225 True arthrogryposis multiplex congenita arthrogryposis syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015169 MONDO:0017706 True chronic diarrhea due to glucoamylase deficiency disorder of carbohydrate transmembrane transport and absorption UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015175 MONDO:0000569 True autoimmune pancreatitis autoimmune disorder of endocrine system UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0015177 MONDO:0018230 True metaphyseal anadysplasia skeletal dysplasia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015183 MONDO:0005020 True short bowel syndrome intestinal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0015185 MONDO:0015356 True intestinal polyposis syndrome hereditary neoplastic syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015191 MONDO:0017574 True myopathic intestinal pseudoobstruction chronic intestinal pseudoobstruction UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015193 MONDO:0019755 True hydrops fetalis developmental defect during embryogenesis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015194 MONDO:0002280 True sideroblastic anemia anemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0015195 MONDO:0018559 True atresia of urethra fetal lower urinary tract obstruction UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015201 MONDO:0019755 True ankyloblepharon filiforme-imperforate anus syndrome developmental defect during embryogenesis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015203 MONDO:0019512 True coronary artery congenital malformation congenital heart malformation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015204 MONDO:0018838 True microlissencephaly lissencephaly spectrum disorders UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0015205 MONDO:0015146 True isolated lissencephaly type 1 without known genetic defects classic lissencephaly UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015225 MONDO:0019054 True arthrogryposis syndrome congenital limb malformation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015229 MONDO:0002254 True Bardet-Biedl syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0015229 MONDO:0005308 True Bardet-Biedl syndrome ciliopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0015229 MONDO:0006025 True Bardet-Biedl syndrome autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0015230 MONDO:0015161 True anophthalmia-megalocornea-cardiopathy-skeletal anomalies syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015231 MONDO:0006510 True Bartter syndrome renal tubular transport disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0015231 MONDO:0015962 True Bartter syndrome inherited renal tubular disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015232 MONDO:0018234 True radial deficiency-tibial hypoplasia syndrome dysostosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015232 MONDO:0019054 True radial deficiency-tibial hypoplasia syndrome congenital limb malformation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015233 MONDO:0015159 True caudal appendage-deafness syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015234 MONDO:0015159 True arachnodactyly-abnormal ossification-intellectual disability syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015236 MONDO:0020292 True aortic arch defects congenital anomaly of the great arteries UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015238 MONDO:0015161 True arrhinia-choanal atresia-microphthalmia syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015239 MONDO:0016581 True abnormal origin of the pulmonary artery conotruncal heart malformations UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015240 MONDO:0015161 True digitotalar dysmorphism multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015240 MONDO:0019942 True digitotalar dysmorphism distal arthrogryposis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0015241 MONDO:0015168 True arthrogryposis-like syndrome arthrogryposis multiplex congenita UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015243 MONDO:0000771 True allergic bronchopulmonary aspergillosis allergic respiratory disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0015243 MONDO:0005657 True allergic bronchopulmonary aspergillosis aspergillosis SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0015244 MONDO:0006025 True autosomal recessive cerebellar ataxia autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0015247 MONDO:0018215 True opsoclonus-myoclonus syndrome paraneoplastic neurologic syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015248 MONDO:0015159 True ataxia-photosensitivity-short stature syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015248 MONDO:0100309 True ataxia-photosensitivity-short stature syndrome hereditary ataxia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015249 MONDO:0019817 True mitral atresia disorder congenital mitral valve insufficiency and/or stenosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015250 MONDO:0016113 True spinal atrophy-ophthalmoplegia-pyramidal syndrome bulbospinal muscular atrophy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015252 MONDO:0015159 True severe microbrachycephaly-intellectual disability-athetoid cerebral palsy syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015252 MONDO:0100309 True severe microbrachycephaly-intellectual disability-athetoid cerebral palsy syndrome hereditary ataxia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015253 MONDO:0001713 True Diamond-Blackfan anemia inherited aplastic anemia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0015254 MONDO:0004664 True schistosomiasis helminthiasis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0015259 MONDO:0015159 True brachydactyly-mesomelia-intellectual disability-heart defects syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015261 MONDO:0004907 True pseudopelade of Brocq alopecia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015262 MONDO:0005516 True brachyolmia osteochondrodysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0015262 MONDO:0019694 True brachyolmia spondylodysplastic dysplasia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015263 MONDO:0000992 True Brugada syndrome heart conduction disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0015263 MONDO:0003847 True Brugada syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0015264 MONDO:0002429 True cryptogenic organizing pneumonia idiopathic interstitial pneumonia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0015265 MONDO:0015925 True bronchiolitis obliterans syndrome interstitial lung disease UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0015267 MONDO:0000426 True Feingold syndrome autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0015267 MONDO:0002254 True Feingold syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0015270 MONDO:0019253 True butyrylcholinesterase deficiency metabolic disease involving other neurotransmitter deficiency UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015271 MONDO:0016105 True idiopathic camptocormia acquired skeletal muscle disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015272 MONDO:0019054 True camptodactyly-taurinuria syndrome congenital limb malformation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015273 MONDO:0020290 True complete atrioventricular canal familial atrioventricular septal defect UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015274 MONDO:0015926 True chronic beryllium disease pneumoconiosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0015275 MONDO:0020290 True partial atrioventricular canal familial atrioventricular septal defect UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015277 MONDO:0002120 True medullary thyroid gland carcinoma neuroendocrine carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0015278 MONDO:0005192 True familial pancreatic carcinoma exocrine pancreatic carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015288 MONDO:0023865 True herpes simplex virus keratitis corneal infection UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015342 MONDO:0002565 True acute transverse myelitis myelitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015356 MONDO:0003847 True hereditary neoplastic syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015356 MONDO:0021058 True hereditary neoplastic syndrome neoplastic syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015397 MONDO:0002254 True craniofacial microsomia 1 syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0015403 MONDO:0018715 True non-involuting congenital hemangioma congenital hemangioma UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015404 MONDO:0018715 True rapidly involuting congenital hemangioma congenital hemangioma UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015426 MONDO:0005516 True Desbuquois dysplasia osteochondrodysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0015447 MONDO:0015075 True differentiated thyroid carcinoma thyroid gland carcinoma UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0015452 MONDO:0002254 True Coffin-Siris syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0015455 MONDO:0006668 True gonococcal conjunctivitis bacterial conjunctivitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015279 MONDO:0003778 True chronic mucocutaneous candidiasis inborn error of immunity UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0015280 MONDO:0015159 True cardiofaciocutaneous syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015280 MONDO:0019287 True cardiofaciocutaneous syndrome ectodermal dysplasia syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS +MONDO:0015280 MONDO:0020297 True cardiofaciocutaneous syndrome Noonan syndrome and Noonan-related syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015281 MONDO:0016340 True atrial standstill familial restrictive cardiomyopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015284 MONDO:0015161 True heart-hand syndrome type 2 multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015284 MONDO:0016432 True heart-hand syndrome type 2 heart-hand syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015285 MONDO:0000426 True Carney complex autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0015286 MONDO:0019052 True congenital disorder of glycosylation inborn errors of metabolism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0015289 MONDO:0023865 True infectious epithelial keratitis corneal infection UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015293 MONDO:0017623 True segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndrome PTEN hamartoma tumor syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015293 MONDO:0019716 True segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndrome overgrowth syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015301 MONDO:0019065 True primary cutaneous amyloidosis amyloidosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0015301 MONDO:0021154 True primary cutaneous amyloidosis dermis disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015302 MONDO:0015301 True nodular cutaneous amyloidosis primary cutaneous amyloidosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015303 MONDO:0015301 True macular amyloidosis primary cutaneous amyloidosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015304 MONDO:0004796 True arachnoiditis infectious meningitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0015306 MONDO:0000315 True Lemierre syndrome commensal bacterial infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0015307 MONDO:0020128 True Madras motor neuron disease motor neuron disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015312 MONDO:0012155 True choanal atresia, unilateral choanal atresia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015313 MONDO:0012155 True choanal atresia, bilateral choanal atresia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015317 MONDO:0016223 True laryngotracheal angioma infantile hemangioma of rare localization UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015324 MONDO:0015159 True cataract-intellectual disability-anal atresia-urinary defects syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015325 MONDO:0015159 True cataract-deafness-hypogonadism syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015326 MONDO:0015161 True night blindness-skeletal anomalies-dysmorphism syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015327 MONDO:0019755 True developmental anomaly of metabolic origin developmental defect during embryogenesis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015333 MONDO:0019755 True progeroid syndrome developmental defect during embryogenesis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015337 MONDO:0015469 True isolated craniosynostosis craniosynostosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015338 MONDO:0015469 True syndromic craniosynostosis craniosynostosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015339 MONDO:0018544 True adrenomyeloneuropathy adrenoleukodystrophy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015339 MONDO:0020127 True adrenomyeloneuropathy hereditary peripheral neuropathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015340 MONDO:0017396 True drug rash with eosinophilia and systemic symptoms toxic dermatosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015344 MONDO:0015342 True idiopathic acute transverse myelitis acute transverse myelitis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015345 MONDO:0020072 True perioral myoclonia with absences childhood-onset epilepsy syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015346 MONDO:0020072 True Jeavons syndrome childhood-onset epilepsy syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015347 MONDO:0002254 True multicentric reticulohistiocytosis syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0015347 MONDO:0015531 True multicentric reticulohistiocytosis non-Langerhans cell histiocytosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0015348 MONDO:0019046 True leukoencephalopathy with bilateral anterior temporal lobe cysts leukodystrophy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015349 MONDO:0019046 True progressive cavitating leukoencephalopathy leukodystrophy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015350 MONDO:0016967 True 17q11.2 microduplication syndrome partial duplication of the long arm of chromosome 17 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015351 MONDO:0020127 True neuropathy with hearing impairment hereditary peripheral neuropathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015352 MONDO:0015362 True distal hereditary motor neuropathy type 2 neuronopathy, distal hereditary motor, autosomal dominant UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0015353 MONDO:0100350 True neuronopathy, distal hereditary motor, type 5A neuronopathy, distal hereditary motor, type 5 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0015355 MONDO:0015362 True distal hereditary motor neuropathy type 7 neuronopathy, distal hereditary motor, autosomal dominant UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0015362 MONDO:0000426 True neuronopathy, distal hereditary motor, autosomal dominant autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0015362 MONDO:0001516 True neuronopathy, distal hereditary motor, autosomal dominant spinal muscular atrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0015362 MONDO:0018894 True neuronopathy, distal hereditary motor, autosomal dominant distal hereditary motor neuropathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015363 MONDO:0006025 True neuronopathy, distal hereditary motor, autosomal recessive autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0015363 MONDO:0018894 True neuronopathy, distal hereditary motor, autosomal recessive distal hereditary motor neuropathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015364 MONDO:0020127 True hereditary sensory and autonomic neuropathy hereditary peripheral neuropathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015367 MONDO:0015161 True Charlie M syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015367 MONDO:0017139 True Charlie M syndrome oromandibular-limb hypogenesis syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015369 MONDO:0020043 True Joubert syndrome and related disorders autosomal recessive congenital cerebellar ataxia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015371 MONDO:0021154 True linear atrophoderma of Moulin dermis disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015375 MONDO:0015498 True orofaciodigital syndrome oromandibular-limb anomalies syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015376 MONDO:0015476 True first branchial cleft anomaly cysts and fistulae of the face and oral cavity UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015377 MONDO:0015476 True third branchial cleft anomaly cysts and fistulae of the face and oral cavity UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015378 MONDO:0015476 True fourth branchial cleft anomaly cysts and fistulae of the face and oral cavity UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015379 MONDO:0015476 True cervical dermoid cyst cysts and fistulae of the face and oral cavity UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015380 MONDO:0015476 True facial dermoid cyst cysts and fistulae of the face and oral cavity UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015381 MONDO:0015476 True commissural lip fistula cysts and fistulae of the face and oral cavity UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015382 MONDO:0015476 True lower lip fistula cysts and fistulae of the face and oral cavity UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015383 MONDO:0015476 True cervicofacial fibrochondroma cysts and fistulae of the face and oral cavity UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015384 MONDO:0015476 True digestive duplication cyst of the tongue cysts and fistulae of the face and oral cavity UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015386 MONDO:0019500 True epignathus extragonadal teratoma UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015391 MONDO:0019500 True nasopharyngeal teratoma extragonadal teratoma UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015393 MONDO:0016733 True nasal ganglioglioma ganglioglioma UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015394 MONDO:0016057 True nasal encephalocele isolated encephalocele UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015397 MONDO:0002254 True craniofacial microsomia 1 syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0015399 MONDO:0017139 True glossopalatine ankylosis oromandibular-limb hypogenesis syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015400 MONDO:0015500 True frontonasal arteriovenous malformation facial arteriovenous malformation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015401 MONDO:0015500 True maxillary arteriovenous malformation facial arteriovenous malformation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015402 MONDO:0015500 True mandibular arteriovenous malformation facial arteriovenous malformation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015403 MONDO:0018715 True non-involuting congenital hemangioma congenital hemangioma UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015404 MONDO:0018715 True rapidly involuting congenital hemangioma congenital hemangioma UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015406 MONDO:0015405 True cerebrofacial arteriovenous metameric syndrome type 1 cerebrofacial arteriovenous metameric syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015407 MONDO:0015405 True cerebrofacial arteriovenous metameric syndrome type 3 cerebrofacial arteriovenous metameric syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015408 MONDO:0002013 True diffuse lymphatic malformation lymphangioma UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0015410 MONDO:0015476 True nasal dorsum fistula/cyst cysts and fistulae of the face and oral cavity UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015411 MONDO:0019755 True facial cleft developmental defect during embryogenesis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015413 MONDO:0015411 True median cleft of the upper lip and maxilla facial cleft UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015416 MONDO:0015411 True Tessier number 5 facial cleft facial cleft UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015417 MONDO:0015411 True Tessier number 6 facial cleft facial cleft UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015419 MONDO:0015411 True midline cervical cleft facial cleft UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015421 MONDO:0015375 True orofaciodigital syndrome type 12 orofaciodigital syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015422 MONDO:0015375 True orofaciodigital syndrome type 13 orofaciodigital syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015426 MONDO:0005516 True Desbuquois dysplasia osteochondrodysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0015426 MONDO:0019755 True Desbuquois dysplasia developmental defect during embryogenesis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015427 MONDO:0016058 True paroxysmal dyskinesia paroxysmal dystonia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015428 MONDO:0019287 True choroidal atrophy-alopecia syndrome ectodermal dysplasia syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015445 MONDO:0007345 True autosomal dominant coarctation of aorta aorta coarctation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015446 MONDO:0007345 True atypical coarctation of aorta aorta coarctation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015447 MONDO:0015075 True differentiated thyroid carcinoma thyroid gland carcinoma UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0015449 MONDO:0019512 True criss-cross heart congenital heart malformation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015450 MONDO:0019512 True triatrial heart congenital heart malformation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015451 MONDO:0019820 True univentricular heart univentricular cardiopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015452 MONDO:0002254 True Coffin-Siris syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0015452 MONDO:0003847 True Coffin-Siris syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0015452 MONDO:0015159 True Coffin-Siris syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015453 MONDO:0005328 True Cogan syndrome eye disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0015454 MONDO:0019214 True multiple carboxylase deficiency inborn carbohydrate metabolic disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0015454 MONDO:0019215 True multiple carboxylase deficiency classic organic aciduria UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015458 MONDO:0015159 True intellectual disability-hypoplastic corpus callosum-preauricular tag syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015459 MONDO:0002038 True nasopharyngeal carcinoma head and neck carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0015459 MONDO:0017344 True nasopharyngeal carcinoma Epstein-Barr virus-associated carcinoma UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015459 MONDO:0021315 True nasopharyngeal carcinoma malignant tumor of nasopharynx UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015459 MONDO:0021345 True nasopharyngeal carcinoma carcinoma of pharynx UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015461 MONDO:0002254 True short rib-polydactyly syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015486 MONDO:0000942 True keratoconus corneal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0015517 MONDO:0016463 True common variable immunodeficiency syndromic agammaglobulinemia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015523 MONDO:0002095 True epithelioid hemangioendothelioma vascular cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0015461 MONDO:0015929 True short rib-polydactyly syndrome thoracic malformation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015461 MONDO:0019691 True short rib-polydactyly syndrome short rib dysplasia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015462 MONDO:0018230 True thin ribs-tubular bones-dysmorphism syndrome skeletal dysplasia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015463 MONDO:0015159 True craniodigital syndrome-intellectual disability syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015464 MONDO:0015856 True craniofrontonasal dysplasia-Poland anomaly syndrome syndromic breast hypoplasia/aplasia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015464 MONDO:0016643 True craniofrontonasal dysplasia-Poland anomaly syndrome frontonasal dysplasia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015466 MONDO:0016620 True cranio-osteoarthropathy primary hypertrophic osteoarthropathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015467 MONDO:0015338 True craniosynostosis, Philadelphia type syndromic craniosynostosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015469 MONDO:0001411 True craniosynostosis synostosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0015471 MONDO:0020073 True benign focal seizures of adolescence adolescent-onset epilepsy syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015473 MONDO:0015159 True cryptorchidism-arachnodactyly-intellectual disability syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015474 MONDO:0005707 True cryptosporidiosis coccidiosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0015476 MONDO:0019755 True cysts and fistulae of the face and oral cavity developmental defect during embryogenesis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015477 MONDO:0015476 True pinnae fistula or cyst cysts and fistulae of the face and oral cavity UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015479 MONDO:0016064 True submucosal cleft palate cleft palate UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015480 MONDO:0015411 True coloboma of superior eyelid facial cleft UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015481 MONDO:0015411 True coloboma of inferior eyelid facial cleft UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015484 MONDO:0000367 True cysticercosis taeniasis UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0015486 MONDO:0000942 True keratoconus corneal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0015487 MONDO:0016387 True fatal infantile encephalocardiomyopathy mitochondrial oxidative phosphorylation disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015491 MONDO:0018882 True immune complex mediated vasculitis vasculitis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015494 MONDO:0044807 True isolated dystonia inherited dystonia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015496 MONDO:0019755 True macroglossia developmental defect during embryogenesis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015515 MONDO:0017716 True carnitine palmitoyltransferase II deficiency disorder of carnitine cycle and carnitine transport UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015517 MONDO:0015356 True common variable immunodeficiency hereditary neoplastic syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015519 MONDO:0800448 True congenital or early infantile CACH syndrome leukoencephalopathy with vanishing white matter UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015520 MONDO:0800448 True late infantile CACH syndrome leukoencephalopathy with vanishing white matter UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015521 MONDO:0800448 True juvenile or adult CACH syndrome leukoencephalopathy with vanishing white matter UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015523 MONDO:0002095 True epithelioid hemangioendothelioma vascular cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0015523 MONDO:0021121 True epithelioid hemangioendothelioma hemangioendothelioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015524 MONDO:0004335 True hyperplastic polyposis syndrome digestive system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015528 MONDO:0006499 True congenital epulis hamartoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015530 MONDO:0043218 True trigeminal autonomic cephalalgia neurovascular disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015538 MONDO:0006247 True indeterminate dendritic cell tumor histiocytic and dendritic cell neoplasm UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015540 MONDO:0002254 True hemophagocytic syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0015542 MONDO:0015540 True secondary hemophagocytic lymphohistiocytosis hemophagocytic syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015564 MONDO:0016537 True Castleman disease lymphoproliferative syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0015573 MONDO:0005282 True subacute cutaneous lupus erythematosus cutaneous lupus erythematosus UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015597 MONDO:0002406 True pustulosis palmaris et plantaris dermatitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0015601 MONDO:0020119 True X-linked intellectual disability, van Esch type X-linked syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0015635 MONDO:0024482 True porokeratotic eccrine ostial and dermal duct nevus eccrine sweat gland hamartoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015663 MONDO:0002254 True diencephalic syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015667 MONDO:0018874 True acute myeloid leukemia by FAB classification acute myeloid leukemia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015681 MONDO:0000594 True childhood disintegrative disorder pervasive developmental disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0015687 MONDO:0001014 True chronic eosinophilic leukemia chronic leukemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0015687 MONDO:0020076 True chronic eosinophilic leukemia myeloproliferative neoplasm UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0015524 MONDO:0015185 True hyperplastic polyposis syndrome intestinal polyposis syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015525 MONDO:0018234 True congenital pseudoarthrosis of the limbs dysostosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015526 MONDO:0018431 True cold-induced sweating syndrome cold-induced sweating syndrome - hyperthermia spectrum UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015528 MONDO:0003396 True congenital epulis epulis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0015529 MONDO:0015530 True paroxysmal Hemicrania trigeminal autonomic cephalalgia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015531 MONDO:0002637 True non-Langerhans cell histiocytosis histiocytosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0015532 MONDO:0015531 True generalized eruptive histiocytosis non-Langerhans cell histiocytosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015533 MONDO:0015531 True benign cephalic histiocytosis non-Langerhans cell histiocytosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015534 MONDO:0015531 True juvenile xanthogranuloma non-Langerhans cell histiocytosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0015535 MONDO:0015531 True xanthoma disseminatum non-Langerhans cell histiocytosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015536 MONDO:0015531 True papular xanthoma non-Langerhans cell histiocytosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015537 MONDO:0015531 True necrobiotic xanthogranuloma non-Langerhans cell histiocytosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015538 MONDO:0006247 True indeterminate dendritic cell tumor histiocytic and dendritic cell neoplasm UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015538 MONDO:0015531 True indeterminate dendritic cell tumor non-Langerhans cell histiocytosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015539 MONDO:0015531 True progressive nodular histiocytosis non-Langerhans cell histiocytosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015540 MONDO:0005833 True hemophagocytic syndrome lymphatic system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0015541 MONDO:0003778 True hereditary hemophagocytic lymphohistiocytosis inborn error of immunity UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015541 MONDO:0015540 True hereditary hemophagocytic lymphohistiocytosis hemophagocytic syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015542 MONDO:0015540 True secondary hemophagocytic lymphohistiocytosis hemophagocytic syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015544 MONDO:0015542 True acquired hemophagocytic lymphohistiocytosis associated with malignant disease secondary hemophagocytic lymphohistiocytosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015545 MONDO:0015542 True macrophage activation syndrome secondary hemophagocytic lymphohistiocytosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015546 MONDO:0016909 True non-distal monosomy 10q partial monosomy of the long arm of chromosome 10 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015552 MONDO:0006543 True acral dystrophic epidermolysis bullosa epidermolysis bullosa dystrophica UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015553 MONDO:0006543 True dystrophic epidermolysis bullosa, nails only epidermolysis bullosa dystrophica UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015554 MONDO:0019316 True typical urticaria pigmentosa maculopapular cutaneous mastocytosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015555 MONDO:0019316 True plaque-form urticaria pigmentosa maculopapular cutaneous mastocytosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015556 MONDO:0019316 True nodular urticaria pigmentosa maculopapular cutaneous mastocytosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015562 MONDO:0016915 True distal monosomy 17q partial deletion of the long arm of chromosome 17 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015564 MONDO:0016537 True Castleman disease lymphoproliferative syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0015566 MONDO:0016901 True 2q24 microdeletion syndrome partial deletion of the long arm of chromosome 2 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015570 MONDO:0015604 True isolated congenital auditory ossicle malformation middle ear anomaly UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015571 MONDO:0016904 True deletion 5q35 partial deletion of the long arm of chromosome 5 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015579 MONDO:0011399 True Hb Bart's hydrops fetalis alpha thalassemia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015580 MONDO:0016906 True distal monosomy 7q36 partial deletion of the long arm of chromosome 7 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015583 MONDO:0016884 True 2p21 microdeletion syndrome partial deletion of the short arm of chromosome 2 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015584 MONDO:0020072 True febrile infection-related epilepsy syndrome childhood-onset epilepsy syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015585 MONDO:0020072 True cryptogenic late-onset epileptic spasms childhood-onset epilepsy syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015587 MONDO:0020072 True rolandic epilepsy-speech dyspraxia syndrome childhood-onset epilepsy syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015588 MONDO:0019956 True limbic encephalitis encephalitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0015597 MONDO:0002406 True pustulosis palmaris et plantaris dermatitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0015597 MONDO:0019268 True pustulosis palmaris et plantaris epidermal disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015601 MONDO:0020119 True X-linked intellectual disability, van Esch type X-linked syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0015604 MONDO:0019755 True middle ear anomaly developmental defect during embryogenesis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015605 MONDO:0020040 True distal monosomy 9p 46,XY disorder of sex development UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015606 MONDO:0017004 True Xp22.3 microdeletion syndrome partial monosomy of the short arm of chromosome X UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015608 MONDO:0019457 True acute myeloid leukemia and myelodysplastic syndromes related to radiation therapy related acute myeloid leukemia and myelodysplastic syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015609 MONDO:0003847 True advanced sleep phase syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0015610 MONDO:0015909 True acquired aplastic anemia aplastic anemia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015611 MONDO:0018117 True neutral lipid storage disease disorder of phospholipids, sphingolipids and fatty acids biosynthesis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015611 MONDO:0019245 True neutral lipid storage disease lysosomal lipid storage disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0015612 MONDO:0006510 True Dent disease renal tubular transport disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0015612 MONDO:0015962 True Dent disease inherited renal tubular disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015613 MONDO:0002220 True dentin dysplasia tooth hard tissue disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0015614 MONDO:0019337 True dermatitis herpetiformis autoimmune bullous skin disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0015622 MONDO:0020568 True wound myiasis cutaneous myiasis UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015623 MONDO:0019147 True cavitary myiasis myiasis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015624 MONDO:0019010 True diazoxide-sensitive diffuse hyperinsulinism congenital isolated hyperinsulinism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015625 MONDO:0017186 True diazoxide-resistant diffuse hyperinsulinism diazoxide-resistant hyperinsulinism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015626 MONDO:0020127 True Charcot-Marie-Tooth disease hereditary peripheral neuropathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015627 MONDO:0016648 True multiple epiphyseal dysplasia due to collagen 9 anomaly multiple epiphyseal dysplasia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0015628 MONDO:0013304 True von Willebrand disease type 2A von Willebrand disease 2 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015629 MONDO:0013304 True von Willebrand disease type 2B von Willebrand disease 2 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015630 MONDO:0013304 True von Willebrand disease type 2M von Willebrand disease 2 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015631 MONDO:0013304 True von Willebrand disease type 2N von Willebrand disease 2 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015632 MONDO:0016387 True FASTKD2-related infantile mitochondrial encephalomyopathy mitochondrial oxidative phosphorylation disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015636 MONDO:0016075 True dirofilariasis filariasis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0015637 MONDO:0015642 True benign non-familial infantile seizures benign partial infantile seizures UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015638 MONDO:0015637 True benign partial epilepsy of infancy with complex partial seizures benign non-familial infantile seizures UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015639 MONDO:0015637 True benign partial epilepsy with secondarily generalized seizures in infancy benign non-familial infantile seizures UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015640 MONDO:0015642 True benign infantile seizures associated with mild gastroenteritis benign partial infantile seizures UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015641 MONDO:0015642 True benign infantile focal epilepsy with midline spikes and wave during sleep benign partial infantile seizures UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015642 MONDO:0020071 True benign partial infantile seizures infantile epilepsy syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015644 MONDO:0017768 True audiogenic seizures reflex epilepsy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015645 MONDO:0017768 True eating seizures reflex epilepsy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015646 MONDO:0017768 True orgasm-induced seizures reflex epilepsy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015647 MONDO:0017768 True thinking seizures reflex epilepsy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015648 MONDO:0017768 True startle epilepsy reflex epilepsy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015649 MONDO:0017768 True micturation-induced seizures reflex epilepsy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015661 MONDO:0005453 True dextrocardia congenital heart disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0015661 MONDO:0018677 True dextrocardia visceral heterotaxy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0015664 MONDO:0020292 True idiopathic pulmonary artery dilatation congenital anomaly of the great arteries UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015665 MONDO:0018432 True scleromyxedema lichen myxedematosus UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015666 MONDO:0019512 True familial idiopathic dilatation of the right atrium congenital heart malformation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015667 MONDO:0018874 True acute myeloid leukemia by FAB classification acute myeloid leukemia UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015674 MONDO:0002561 True late infantile neuronal ceroid lipofuscinosis lysosomal storage disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015677 MONDO:0019512 True cardiac diverticulum congenital heart malformation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015678 MONDO:0018230 True dysplasia of head of femur, Meyer type skeletal dysplasia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015681 MONDO:0000594 True childhood disintegrative disorder pervasive developmental disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0015687 MONDO:0001014 True chronic eosinophilic leukemia chronic leukemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0015687 MONDO:0020076 True chronic eosinophilic leukemia myeloproliferative neoplasm UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0015688 MONDO:0015756 True myeloid/lymphoid neoplasms associated with eosinophilia and abnormality of PDGFRA, PDGFRB, FGFR1 or JAK2 myeloid hemopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015688 MONDO:0044881 True myeloid/lymphoid neoplasms associated with eosinophilia and abnormality of PDGFRA, PDGFRB, FGFR1 or JAK2 hematopoietic and lymphoid cell neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015689 MONDO:0015688 True myeloid neoplasm associated with PDGFRA rearrangement myeloid/lymphoid neoplasms associated with eosinophilia and abnormality of PDGFRA, PDGFRB, FGFR1 or JAK2 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0015690 MONDO:0015688 True myeloid neoplasm associated with PDGFRB rearrangement myeloid/lymphoid neoplasms associated with eosinophilia and abnormality of PDGFRA, PDGFRB, FGFR1 or JAK2 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0015691 MONDO:0002254 True hypereosinophilic syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0015698 MONDO:0003827 True transient hypogammaglobulinemia of infancy transient hypogammaglobulinemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0015742 MONDO:0006741 True periventricular leukomalacia encephalomalacia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0015689 MONDO:0015688 True myeloid neoplasm associated with PDGFRA rearrangement myeloid/lymphoid neoplasms associated with eosinophilia and abnormality of PDGFRA, PDGFRB, FGFR1 or JAK2 UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0015690 MONDO:0015688 True myeloid neoplasm associated with PDGFRB rearrangement myeloid/lymphoid neoplasms associated with eosinophilia and abnormality of PDGFRA, PDGFRB, FGFR1 or JAK2 UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0015691 MONDO:0016345 True hypereosinophilic syndrome non-familial restrictive cardiomyopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015692 MONDO:0018881 True refractory anemia with excess blasts in transformation myelodysplastic syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015696 MONDO:0017769 True Good syndrome acquired immunodeficiency UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015697 MONDO:0003778 True immunoglobulin heavy chain deficiency inborn error of immunity UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015698 MONDO:0003827 True transient hypogammaglobulinemia of infancy transient hypogammaglobulinemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0015699 MONDO:0003832 True immunodeficiency due to a classical component pathway complement deficiency complement deficiency UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015700 MONDO:0003832 True immunodeficiency due to a late component of complement deficiency complement deficiency UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015701 MONDO:0044200 True T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiency T-B+ severe combined immunodeficiency UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015702 MONDO:0044200 True T-B+ severe combined immunodeficiency due to CD45 deficiency T-B+ severe combined immunodeficiency UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015703 MONDO:0044200 True T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta T-B+ severe combined immunodeficiency UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015704 MONDO:0015338 True familial scaphocephaly syndrome syndromic craniosynostosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015705 MONDO:0018947 True autosomal recessive centronuclear myopathy centronuclear myopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0015708 MONDO:0003778 True immuno-osseous dysplasia inborn error of immunity UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015712 MONDO:0016961 True non-distal trisomy 10q partial duplication of the long arm of chromosome 10 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015715 MONDO:0010604 True severe hemophilia B hemophilia B UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015716 MONDO:0010604 True moderately severe hemophilia B hemophilia B UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015717 MONDO:0010604 True mild hemophilia B hemophilia B UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015719 MONDO:0010602 True severe hemophilia A hemophilia A UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015720 MONDO:0010602 True moderately severe hemophilia A hemophilia A UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015721 MONDO:0010602 True mild hemophilia A hemophilia A UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015722 MONDO:0021181 True congenital vitamin K-dependent coagulation factors deficiency inherited blood coagulation disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015723 MONDO:0016933 True trisomy 12p partial trisomy/tetrasomy of the short arm of chromosome 12 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015724 MONDO:0022177 True non-distal trisomy 13q chromosome 13q trisomy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015726 MONDO:0016964 True distal trisomy 14q partial duplication of the long arm of chromosome 14 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015728 MONDO:0017806 True distal trisomy 15q 15q overgrowth syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015735 MONDO:0016193 True severe congenital nemaline myopathy qualitative or quantitative defects of alpha-actin UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015735 MONDO:0016194 True severe congenital nemaline myopathy qualitative or quantitative defects of nebulin UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015735 MONDO:0018958 True severe congenital nemaline myopathy nemaline myopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015736 MONDO:0016193 True intermediate nemaline myopathy qualitative or quantitative defects of alpha-actin UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015736 MONDO:0016194 True intermediate nemaline myopathy qualitative or quantitative defects of nebulin UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015736 MONDO:0017303 True intermediate nemaline myopathy qualitative or quantitative defects of tropomyosin UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015737 MONDO:0016193 True typical nemaline myopathy qualitative or quantitative defects of alpha-actin UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015737 MONDO:0016194 True typical nemaline myopathy qualitative or quantitative defects of nebulin UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015737 MONDO:0017303 True typical nemaline myopathy qualitative or quantitative defects of tropomyosin UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015737 MONDO:0018958 True typical nemaline myopathy nemaline myopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015738 MONDO:0016193 True childhood-onset nemaline myopathy qualitative or quantitative defects of alpha-actin UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015738 MONDO:0016194 True childhood-onset nemaline myopathy qualitative or quantitative defects of nebulin UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015738 MONDO:0017303 True childhood-onset nemaline myopathy qualitative or quantitative defects of tropomyosin UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015738 MONDO:0018958 True childhood-onset nemaline myopathy nemaline myopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015739 MONDO:0016193 True adult-onset nemaline myopathy qualitative or quantitative defects of alpha-actin UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015739 MONDO:0016194 True adult-onset nemaline myopathy qualitative or quantitative defects of nebulin UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015739 MONDO:0018958 True adult-onset nemaline myopathy nemaline myopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015740 MONDO:0016951 True trisomy 18p partial trisomy/tetrasomy of the short arm of chromosome 18 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015741 MONDO:0016968 True distal trisomy 18q partial trisomy of the long arm of chromosome 18 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015742 MONDO:0006741 True periventricular leukomalacia encephalomalacia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0015744 MONDO:0016969 True distal trisomy 19q partial duplication of the long arm of chromosome 19 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015746 MONDO:0018394 True male infertility due to globozoospermia male infertility with teratozoospermia due to single gene mutation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015749 MONDO:0016905 True 6q16 deletion syndrome partial deletion of the long arm of chromosome 6 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015749 MONDO:0018354 True 6q16 deletion syndrome Prader-Willi-like syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015751 MONDO:0015338 True craniosynostosis-hydrocephalus-Arnold-Chiari malformation type I-radioulnar synostosis syndrome syndromic craniosynostosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015755 MONDO:0019952 True myopathy with hexagonally cross-linked tubular arrays congenital myopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015756 MONDO:0005570 True myeloid hemopathy hematologic disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015758 MONDO:0015760 True primary cutaneous T-cell lymphoma T-cell non-Hodgkin lymphoma UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015758 MONDO:0018898 True primary cutaneous T-cell lymphoma primary cutaneous lymphoma UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015759 MONDO:0004095 True B-cell non-Hodgkin lymphoma B-cell neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015759 MONDO:0018908 True B-cell non-Hodgkin lymphoma non-Hodgkin lymphoma UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015760 MONDO:0018908 True T-cell non-Hodgkin lymphoma non-Hodgkin lymphoma UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0015762 MONDO:0002254 True progressive familial intrahepatic cholestasis syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0015770 MONDO:0018555 True congenital hypogonadotropic hypogonadism hypogonadotropic hypogonadism UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015776 MONDO:0019701 True rhizomelic chondrodysplasia punctata chondrodysplasia punctata UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0015779 MONDO:0001967 True 45,X/46,XY mixed gonadal dysgenesis gonadal dysgenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0015759 MONDO:0018908 True B-cell non-Hodgkin lymphoma non-Hodgkin lymphoma UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015760 MONDO:0018908 True T-cell non-Hodgkin lymphoma non-Hodgkin lymphoma UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0015761 MONDO:0016947 True trisomy 10p partial duplication of the short arm of chromosome 10 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015762 MONDO:0017290 True progressive familial intrahepatic cholestasis familial intrahepatic cholestasis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015762 MONDO:0017755 True progressive familial intrahepatic cholestasis inborn disorder of bilirubin metabolism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015766 MONDO:0000314 True cholera primary bacterial infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0015767 MONDO:0016941 True trisomy 4p partial duplication of the short arm of chromosome 4 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015768 MONDO:0016942 True trisomy 5p partial trisomy/tetrasomy of the short arm of chromosome 5 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015768 MONDO:0019716 True trisomy 5p overgrowth syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015769 MONDO:0016943 True distal trisomy 6p partial duplication of the short arm of chromosome 6 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015770 MONDO:0019824 True congenital hypogonadotropic hypogonadism non-acquired pituitary hormone deficiency UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015772 MONDO:0016959 True trisomy 8q partial duplication of the long arm of chromosome 8 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015773 MONDO:0019054 True fibular dimelia-diplopodia syndrome congenital limb malformation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015775 MONDO:0019701 True non-rhizomelic chondrodysplasia punctata chondrodysplasia punctata UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015776 MONDO:0017986 True rhizomelic chondrodysplasia punctata disorder of plasmalogens biosynthesis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015776 MONDO:0019701 True rhizomelic chondrodysplasia punctata chondrodysplasia punctata UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0015779 MONDO:0001967 True 45,X/46,XY mixed gonadal dysgenesis gonadal dysgenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0015779 MONDO:0017975 True 45,X/46,XY mixed gonadal dysgenesis sex chromosome disorder of sex development UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015780 MONDO:0015356 True dyskeratosis congenita hereditary neoplastic syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015780 MONDO:0019287 True dyskeratosis congenita ectodermal dysplasia syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS +MONDO:0015781 MONDO:0015159 True facial dysmorphism-shawl scrotum-joint laxity syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015783 MONDO:0020301 True Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 Prader-Willi syndrome due to paternal 15q11q13 deletion UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015784 MONDO:0020301 True Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 Prader-Willi syndrome due to paternal 15q11q13 deletion UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015785 MONDO:0008300 True Prader-Willi syndrome due to translocation Prader-Willi syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015786 MONDO:0008300 True Prader-Willi syndrome due to imprinting mutation Prader-Willi syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015787 MONDO:0010602 True symptomatic form of hemophilia A in female carriers hemophilia A UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015788 MONDO:0010604 True symptomatic form of hemophilia B in female carriers hemophilia B UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015790 MONDO:0015127 True central diabetes insipidus pituitary deficiency UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015791 MONDO:0000088 True peripheral precocious puberty precocious puberty UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015792 MONDO:0018612 True transient congenital hypothyroidism congenital hypothyroidism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015793 MONDO:0018948 True moderate multiminicore disease with hand involvement multiminicore myopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015794 MONDO:0018948 True antenatal multiminicore disease with arthrogryposis multiplex congenita multiminicore myopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015797 MONDO:0006025 True UV-sensitive syndrome autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0015797 MONDO:0015951 True UV-sensitive syndrome hereditary photodermatosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015798 MONDO:0006424 True inflammatory myofibroblastic tumor soft tissue neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015800 MONDO:0015338 True osteosclerosis-developmental delay-craniosynostosis syndrome syndromic craniosynostosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015803 MONDO:0016468 True wound botulism toxin-mediated infectious botulism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015804 MONDO:0015805 True infant botulism intestinal botulism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0015805 MONDO:0016468 True intestinal botulism toxin-mediated infectious botulism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015806 MONDO:0015805 True adult intestinal botulism intestinal botulism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015808 MONDO:0045071 True folliculotropic mycosis fungoides mycosis fungoides variant UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015809 MONDO:0045071 True localized pagetoid reticulosis mycosis fungoides variant UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015810 MONDO:0015816 True primary cutaneous CD4+ small/medium-sized pleomorphic T-cell lymphoma indolent primary cutaneous T-cell lymphoma UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015811 MONDO:0015758 True primary cutaneous aggressive epidermotropic CD8+ T-cell lymphoma primary cutaneous T-cell lymphoma UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015812 MONDO:0015758 True primary cutaneous gamma/delta-positive T-cell lymphoma primary cutaneous T-cell lymphoma UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015813 MONDO:0015819 True primary cutaneous marginal zone B-cell lymphoma indolent primary cutaneous B-cell lymphoma UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015814 MONDO:0015819 True primary cutaneous follicle center lymphoma indolent primary cutaneous B-cell lymphoma UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015816 MONDO:0015758 True indolent primary cutaneous T-cell lymphoma primary cutaneous T-cell lymphoma UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015819 MONDO:0015820 True indolent primary cutaneous B-cell lymphoma primary cutaneous B-cell lymphoma UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015819 MONDO:0017594 True indolent primary cutaneous B-cell lymphoma indolent B-cell non-Hodgkin lymphoma UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015820 MONDO:0018898 True primary cutaneous B-cell lymphoma primary cutaneous lymphoma UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015821 MONDO:0015816 True mycosis fungoides and variants indolent primary cutaneous T-cell lymphoma UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015824 MONDO:0018234 True oculomaxillofacial dysostosis dysostosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015830 MONDO:0019128 True partial bilateral aplasia of the mullerian ducts mullerian aplasia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015831 MONDO:0019128 True unilateral aplasia of the mullerian ducts mullerian aplasia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015832 MONDO:0015831 True true unicornuate uterus unilateral aplasia of the mullerian ducts UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015833 MONDO:0015831 True pseudounicornuate uterus unilateral aplasia of the mullerian ducts UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015834 MONDO:0015842 True didelphys uterus bicornuate uterus UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015835 MONDO:0015834 True Bicervical bicornuate uterus and blind hemivagina didelphys uterus UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015836 MONDO:0015834 True Bicervical bicornuate uterus with patent cervix and vagina didelphys uterus UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015840 MONDO:0015839 True complete septate uterus septate uterus UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015841 MONDO:0015839 True partial septate uterus septate uterus UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015850 MONDO:0021147 True transverse vaginal septum disorder of development or morphogenesis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015864 MONDO:0006290 True mixed germ cell tumor malignant germ cell tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015867 MONDO:0001402 True vaginal carcinoma vaginal cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0015867 MONDO:0004993 True vaginal carcinoma carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0015871 MONDO:0000620 True benign breast phyllodes tumor breast benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0015867 MONDO:0001402 True vaginal carcinoma vaginal cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0015867 MONDO:0004993 True vaginal carcinoma carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0015871 MONDO:0000620 True benign breast phyllodes tumor breast benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0015871 MONDO:0021047 True benign breast phyllodes tumor breast phyllodes tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015871 MONDO:0037002 True benign breast phyllodes tumor benign phyllodes tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015873 MONDO:0002648 True Paget disease of the nipple mammary Paget disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015873 MONDO:0003950 True Paget disease of the nipple nipple carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015892 MONDO:0002254 True growth hormone insensitivity syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015903 MONDO:0037748 True hyperalphalipoproteinemia hyperlipoproteinemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015909 MONDO:0002280 True aplastic anemia anemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0015912 MONDO:0000009 True macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss inherited bleeding disorder, platelet-type UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0015912 MONDO:0002254 True macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0015925 MONDO:0005275 True interstitial lung disease lung disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0015926 MONDO:0015925 True pneumoconiosis interstitial lung disease UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0015943 MONDO:0002254 True eosinophilic granulomatosis with polyangiitis syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0015967 MONDO:0005015 True monogenic diabetes diabetes mellitus UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015974 MONDO:0015131 True severe combined immunodeficiency combined immunodeficiency UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0015986 MONDO:0018470 True bilateral renal agenesis renal agenesis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0015987 MONDO:0002254 True scimitar syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015988 MONDO:0002473 True multicystic dysplastic kidney cystic kidney disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015991 MONDO:0004739 True citrullinemia urea cycle disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0015998 MONDO:0001176 True isolated ectopia lentis lens disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0015999 MONDO:0005495 True primary pigmented nodular adrenocortical disease adrenal gland disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0016001 MONDO:0019052 True 2-hydroxyglutaric aciduria inborn errors of metabolism UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0016002 MONDO:0020066 True Ehlers-Danlos syndrome, kyphoscoliotic type 1 Ehlers-Danlos syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0016002 MONDO:0023603 True Ehlers-Danlos syndrome, kyphoscoliotic type 1 hereditary disorder of connective tissue UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016008 MONDO:0002254 True fetal hydantoin syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016010 MONDO:0002254 True vitamin K-antagonist embryofetopathy syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016011 MONDO:0002254 True fetal alcohol syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0016030 MONDO:0002254 True Evans syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0016033 MONDO:0002254 True Cornelia de Lange syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0015883 MONDO:0019287 True hidrotic ectodermal dysplasia, Halal type ectodermal dysplasia syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015884 MONDO:0016535 True autosomal dominant hypohidrotic ectodermal dysplasia hypohidrotic ectodermal dysplasia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015892 MONDO:0015514 True growth hormone insensitivity syndrome hereditary endocrine growth disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015905 MONDO:0002525 True syndromic dyslipidemia inherited lipid metabolism disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015908 MONDO:0000255 True chromomycosis subcutaneous mycosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0015909 MONDO:0002280 True aplastic anemia anemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0015912 MONDO:0000009 True macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss inherited bleeding disorder, platelet-type UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0015912 MONDO:0018795 True macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss syndromic constitutional thrombocytopenia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015925 MONDO:0005275 True interstitial lung disease lung disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0015926 MONDO:0015925 True pneumoconiosis interstitial lung disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0015929 MONDO:0020001 True thoracic malformation respiratory or thoracic malformation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015941 MONDO:0015159 True epiphyseal dysplasia-hearing loss-dysmorphism syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015942 MONDO:0018233 True frontometaphyseal dysplasia otopalatodigital syndrome spectrum disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0015947 MONDO:0019269 True inherited ichthyosis ichthyosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015974 MONDO:0015131 True severe combined immunodeficiency combined immunodeficiency UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0015977 MONDO:0002211 True agammaglobulinemia B cell deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0015986 MONDO:0018470 True bilateral renal agenesis renal agenesis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0015987 MONDO:0020292 True scimitar syndrome congenital anomaly of the great arteries UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015990 MONDO:0015494 True focal, segmental or multifocal dystonia isolated dystonia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015991 MONDO:0004739 True citrullinemia urea cycle disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0015993 MONDO:0019118 True cone-rod dystrophy inherited retinal dystrophy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0015995 MONDO:0018230 True melorheostosis with osteopoikilosis skeletal dysplasia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015998 MONDO:0001176 True isolated ectopia lentis lens disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0015999 MONDO:0005495 True primary pigmented nodular adrenocortical disease adrenal gland disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0016001 MONDO:0019052 True 2-hydroxyglutaric aciduria inborn errors of metabolism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0016002 MONDO:0006025 True Ehlers-Danlos syndrome, kyphoscoliotic type 1 autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0016002 MONDO:0020066 True Ehlers-Danlos syndrome, kyphoscoliotic type 1 Ehlers-Danlos syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0016003 MONDO:0000314 True ehrlichiosis primary bacterial infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0016004 MONDO:0016677 True aminopterin/methotrexate embryofetopathy toxic or drug-related embryofetopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016005 MONDO:0016677 True indomethacin embryofetopathy toxic or drug-related embryofetopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016006 MONDO:0006025 True Cockayne syndrome autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0016006 MONDO:0015333 True Cockayne syndrome progeroid syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0016007 MONDO:0016677 True cocaine embryofetopathy toxic or drug-related embryofetopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016008 MONDO:0016677 True fetal hydantoin syndrome toxic or drug-related embryofetopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016009 MONDO:0016677 True fetal trimethadione syndrome toxic or drug-related embryofetopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016010 MONDO:0016677 True vitamin K-antagonist embryofetopathy toxic or drug-related embryofetopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016011 MONDO:0000408 True fetal alcohol syndrome fetal alcohol spectrum disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0016011 MONDO:0016677 True fetal alcohol syndrome toxic or drug-related embryofetopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016012 MONDO:0016677 True diethylstilbestrol syndrome toxic or drug-related embryofetopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016013 MONDO:0016677 True fetal methylmercury syndrome toxic or drug-related embryofetopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016014 MONDO:0016677 True fetal minoxidil syndrome toxic or drug-related embryofetopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016015 MONDO:0016677 True phenobarbital embryopathy toxic or drug-related embryofetopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016016 MONDO:0016677 True toluene embryopathy toxic or drug-related embryofetopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016017 MONDO:0016677 True methimazole embryofetopathy toxic or drug-related embryofetopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016020 MONDO:0016057 True frontal encephalocele isolated encephalocele UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016022 MONDO:0000412 True early myoclonic encephalopathy neonatal period electroclinical syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0016022 MONDO:0016801 True early myoclonic encephalopathy mitochondrial substrate carrier disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016025 MONDO:0020072 True myoclonic-astatic epilepsy childhood-onset epilepsy syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016026 MONDO:0020071 True infant epilepsy with migrant focal crisis infantile epilepsy syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016027 MONDO:0000412 True benign neonatal seizures neonatal period electroclinical syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0016027 MONDO:0020070 True benign neonatal seizures neonatal epilepsy syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016029 MONDO:0016713 True esthesioneuroblastoma central nervous system Ewing sarcoma/peripheral primitive neuroectodermal tumor UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016030 MONDO:0004680 True Evans syndrome primary thrombocytopenia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0016030 MONDO:0019098 True Evans syndrome autoimmune thrombocytopenia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016030 MONDO:0020108 True Evans syndrome autoimmune hemolytic anemia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0016031 MONDO:0015161 True facial dysmorphism-anorexia-cachexia-eye and skin anomalies syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016032 MONDO:0018234 True femoral agenesis/hypoplasia dysostosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016032 MONDO:0019713 True femoral agenesis/hypoplasia non-syndromic limb reduction defect UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016033 MONDO:0002254 True Cornelia de Lange syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0016033 MONDO:0003847 True Cornelia de Lange syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0016033 MONDO:0015159 True Cornelia de Lange syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016033 MONDO:0018234 True Cornelia de Lange syndrome dysostosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0016033 MONDO:0019054 True Cornelia de Lange syndrome congenital limb malformation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016035 MONDO:0003429 True Nelson syndrome functioning pituitary gland adenoma UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0016037 MONDO:0005031 True superficial Fibromatosis fibromatosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016038 MONDO:0005167 True calcified aponeurotic fibroma fibroma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016038 MONDO:0016037 True calcified aponeurotic fibroma superficial Fibromatosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016039 MONDO:0016037 True infantile digital fibromatosis superficial Fibromatosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016042 MONDO:0019832 True late-onset isolated ACTH deficiency acquired pituitary hormone deficiency UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016044 MONDO:0021147 True cleft lip/palate disorder of development or morphogenesis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016047 MONDO:0021166 True endophthalmitis inflammatory disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016047 MONDO:0043885 True endophthalmitis eye infectious disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016075 MONDO:0004664 True filariasis helminthiasis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0016085 MONDO:0002254 True Cole-Carpenter syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0016045 MONDO:0017975 True tetragametic chimerism sex chromosome disorder of sex development UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016046 MONDO:0019054 True familial clubfoot with or without associated lower limb anomalies congenital limb malformation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016049 MONDO:0016145 True congenital myopathy, Paradas type qualitative or quantitative defects of dysferlin UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016049 MONDO:0019950 True congenital myopathy, Paradas type congenital muscular dystrophy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016051 MONDO:0015161 True cleft lip-retinopathy syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016052 MONDO:0000594 True atypical autism pervasive developmental disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0016053 MONDO:0020022 True isolated cerebellar vermis hypoplasia central nervous system malformation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016056 MONDO:0001149 True isolated congenital microcephaly microcephaly UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0016057 MONDO:0017078 True isolated encephalocele cephalocele UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016058 MONDO:0020065 True paroxysmal dystonia combined dystonia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016062 MONDO:0015411 True median cleft lip/mandibule facial cleft UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016064 MONDO:0000358 True cleft palate orofacial cleft UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0016064 MONDO:0019755 True cleft palate developmental defect during embryogenesis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016065 MONDO:0015159 True cleft palate-short stature-vertebral anomalies syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016066 MONDO:0015929 True sternal cleft thoracic malformation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016068 MONDO:0005516 True fibrochondrogenesis osteochondrodysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0016068 MONDO:0018230 True fibrochondrogenesis skeletal dysplasia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016070 MONDO:0002507 True hereditary gingival fibromatosis gingival overgrowth UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0016071 MONDO:0009229 True juvenile hyaline fibromatosis hyaline fibromatosis syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016073 MONDO:0021129 True syndromic microphthalmia microphthalmia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0016075 MONDO:0004664 True filariasis helminthiasis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0016077 MONDO:0016581 True congenital aortopulmonary window conotruncal heart malformations UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016078 MONDO:0020296 True congenital systemic arteriovenous fistula congenital arteriovenous fistula UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016081 MONDO:0015203 True coronary arterial fistulas coronary artery congenital malformation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016085 MONDO:0015161 True Cole-Carpenter syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016085 MONDO:0018230 True Cole-Carpenter syndrome skeletal dysplasia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016086 MONDO:0018381 True osteochondritis of tarsal/metatarsal bone osteochondrosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0016087 MONDO:0015161 True progressive non-infectious anterior vertebral fusion multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016087 MONDO:0018234 True progressive non-infectious anterior vertebral fusion dysostosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016088 MONDO:0019236 True hypoxanthine-guanine phosphoribosyltransferase deficiency inborn disorder of purine metabolism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016089 MONDO:0009499 True infantile Krabbe disease Krabbe disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016090 MONDO:0009499 True late-infantile/juvenile Krabbe disease Krabbe disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016091 MONDO:0009499 True adult Krabbe disease Krabbe disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016091 MONDO:0020143 True adult Krabbe disease cerebral lipidosis with dementia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016093 MONDO:0002229 True borderline epithelial tumor of ovary ovarian epithelial tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016095 MONDO:0002140 True vaginal rhabdomyosarcoma vagina sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016095 MONDO:0005212 True vaginal rhabdomyosarcoma rhabdomyosarcoma UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016096 MONDO:0003408 True malignant non-dysgerminomatous germ cell tumor of ovary ovarian primitive germ cell tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016096 MONDO:0021656 True malignant non-dysgerminomatous germ cell tumor of ovary nongerminomatous germ cell tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016129 MONDO:0002269 True eosinophilic gastroenteritis gastroenteritis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0016163 MONDO:0020380 True autosomal dominant cerebellar ataxia type II autosomal dominant cerebellar ataxia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0016097 MONDO:0016106 True symptomatic form of muscular dystrophy of Duchenne and Becker in female carriers progressive muscular dystrophy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016097 MONDO:0016333 True symptomatic form of muscular dystrophy of Duchenne and Becker in female carriers familial dilated cardiomyopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016098 MONDO:0020122 True immune-mediated necrotizing myopathy acquired idiopathic inflammatory myopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016099 MONDO:0020122 True overlap myositis acquired idiopathic inflammatory myopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016103 MONDO:0016146 True isolated asymptomatic elevation of creatine phosphokinase caveolinopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016103 MONDO:0016147 True isolated asymptomatic elevation of creatine phosphokinase qualitative or quantitative defects of dystrophin UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016105 MONDO:0020120 True acquired skeletal muscle disease skeletal muscle disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016106 MONDO:0020121 True progressive muscular dystrophy muscular dystrophy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016107 MONDO:0016106 True myotonic dystrophy progressive muscular dystrophy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016107 MONDO:0016120 True myotonic dystrophy myotonic syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016108 MONDO:0018949 True autosomal dominant distal myopathy distal myopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016120 MONDO:0020120 True myotonic syndrome skeletal muscle disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016129 MONDO:0002269 True eosinophilic gastroenteritis gastroenteritis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0016129 MONDO:0018438 True eosinophilic gastroenteritis eosinophilic gastrointestinal disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016140 MONDO:0016139 True sarcoglycanopathy qualitative or quantitative protein defects in neuromuscular diseases UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016141 MONDO:0016140 True qualitative or quantitative defects of alpha-sarcoglycan sarcoglycanopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016142 MONDO:0016140 True qualitative or quantitative defects of beta-sarcoglycan sarcoglycanopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016143 MONDO:0016140 True qualitative or quantitative defects of gamma-sarcoglycan sarcoglycanopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016144 MONDO:0016140 True qualitative or quantitative defects of delta-sarcoglycan sarcoglycanopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016145 MONDO:0016139 True qualitative or quantitative defects of dysferlin qualitative or quantitative protein defects in neuromuscular diseases UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016146 MONDO:0016139 True caveolinopathy qualitative or quantitative protein defects in neuromuscular diseases UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016147 MONDO:0016139 True qualitative or quantitative defects of dystrophin qualitative or quantitative protein defects in neuromuscular diseases UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016151 MONDO:0016139 True qualitative or quantitative defects of perlecan qualitative or quantitative protein defects in neuromuscular diseases UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016153 MONDO:0016139 True qualitative or quantitative defects of TRIM32 qualitative or quantitative protein defects in neuromuscular diseases UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016155 MONDO:0018282 True qualitative or quantitative defects of protein involved in O-glycosylation of alpha-dystroglycan qualitative or quantitative defects of alpha-dystroglycan UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016156 MONDO:0016155 True qualitative or quantitative defects of FKRP qualitative or quantitative defects of protein involved in O-glycosylation of alpha-dystroglycan UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016158 MONDO:0021107 True narcolepsy-cataplexy syndrome narcolepsy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016159 MONDO:0020047 True Gemignani syndrome autosomal recessive syndromic cerebellar ataxia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016160 MONDO:0015653 True X-linked intellectual disability-epilepsy syndrome monogenic epilepsy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016162 MONDO:0017091 True bilateral frontal polymicrogyria bilateral polymicrogyria UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016163 MONDO:0020380 True autosomal dominant cerebellar ataxia type II autosomal dominant cerebellar ataxia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0016167 MONDO:0016749 True optic pathway glioma tumor of cranial and spinal nerves UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016167 MONDO:0021042 True optic pathway glioma glioma UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016216 MONDO:0007256 True adult hepatocellular carcinoma hepatocellular carcinoma UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0016218 MONDO:0002254 True Guillain-Barre syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0016222 MONDO:0006500 True spindle cell hemangioma hemangioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0016168 MONDO:0017953 True cryopyrin-associated periodic syndrome hereditary periodic fever syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016175 MONDO:0002051 True cutis laxa integumentary system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0016175 MONDO:0019755 True cutis laxa developmental defect during embryogenesis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016176 MONDO:0015923 True axonal polyneuropathy associated with IgG/IgM/IgA monoclonal gammopathy acquired peripheral neuropathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016184 MONDO:0016155 True qualitative or quantitative defects of protein O-mannosyltransferase 1 qualitative or quantitative defects of protein involved in O-glycosylation of alpha-dystroglycan UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016185 MONDO:0016155 True qualitative or quantitative defects of protein O-mannosyltransferase 2 qualitative or quantitative defects of protein involved in O-glycosylation of alpha-dystroglycan UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016186 MONDO:0016139 True qualitative or quantitative defects of myofibrillar proteins qualitative or quantitative protein defects in neuromuscular diseases UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016187 MONDO:0016186 True qualitative or quantitative defects of desmin qualitative or quantitative defects of myofibrillar proteins UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016188 MONDO:0016186 True qualitative or quantitative defects of alphaB-cristallin qualitative or quantitative defects of myofibrillar proteins UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016189 MONDO:0016186 True qualitative or quantitative defects of filamin C qualitative or quantitative defects of myofibrillar proteins UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016190 MONDO:0016186 True qualitative or quantitative defects of protein ZASP qualitative or quantitative defects of myofibrillar proteins UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016191 MONDO:0016139 True qualitative or quantitative defects of titin qualitative or quantitative protein defects in neuromuscular diseases UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016192 MONDO:0016139 True qualitative or quantitative defects of telethonin qualitative or quantitative protein defects in neuromuscular diseases UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016193 MONDO:0016139 True qualitative or quantitative defects of alpha-actin qualitative or quantitative protein defects in neuromuscular diseases UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016194 MONDO:0016139 True qualitative or quantitative defects of nebulin qualitative or quantitative protein defects in neuromuscular diseases UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016195 MONDO:0016139 True qualitative or quantitative defects of beta-myosin heavy chain (MYH7) qualitative or quantitative protein defects in neuromuscular diseases UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016197 MONDO:0016139 True qualitative or quantitative defects of selenoprotein N1 qualitative or quantitative protein defects in neuromuscular diseases UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016198 MONDO:0016139 True qualitative or quantitative defects of plectin qualitative or quantitative protein defects in neuromuscular diseases UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016199 MONDO:0016139 True qualitative or quantitative defects of protein SERCA1 qualitative or quantitative protein defects in neuromuscular diseases UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016203 MONDO:0019218 True hypercholesterolemia due to cholesterol 7alpha-hydroxylase deficiency inborn disorder of bile acid synthesis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016207 MONDO:0017634 True phacoanaphylactic uveitis non-infectious anterior uveitis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016209 MONDO:0016210 True benign familial nocturnal alternating hemiplegia of childhood alternating hemiplegia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016213 MONDO:0019289 True leukonychia totalis-acanthosis-nigricans-like lesions-abnormal hair syndrome hyperpigmentation of the skin UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016214 MONDO:0015925 True pulmonary fibrosis-hepatic hyperplasia-bone marrow hypoplasia syndrome interstitial lung disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016215 MONDO:0000396 True spastic quadriplegic cerebral palsy spastic cerebral palsy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0016216 MONDO:0007256 True adult hepatocellular carcinoma hepatocellular carcinoma UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0016218 MONDO:0000590 True Guillain-Barre syndrome autoimmune disorder of peripheral nervous system UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0016219 MONDO:0015161 True dysmorphism-pectus carinatum-joint laxity syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016222 MONDO:0006500 True spindle cell hemangioma hemangioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0016226 MONDO:0016225 True specific language disorder specific learning disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016227 MONDO:0100309 True hereditary episodic ataxia hereditary ataxia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0016236 MONDO:0006424 True kaposiform hemangioendothelioma soft tissue neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016236 MONDO:0021121 True kaposiform hemangioendothelioma hemangioendothelioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016238 MONDO:0006209 True solitary fibrous tumor fibroblastic neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016242 MONDO:0019050 True hemoglobin C disease inherited hemoglobinopathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0016243 MONDO:0019050 True hemoglobin E disease inherited hemoglobinopathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0016244 MONDO:0002254 True atypical hemolytic-uremic syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0016239 MONDO:0019246 True cystinosis inborn disorder of lysosomal amino acid transport UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016240 MONDO:0018234 True hemimelia dysostosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016240 MONDO:0019713 True hemimelia non-syndromic limb reduction defect UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016241 MONDO:0001170 True alternating hemiplegia of childhood hemiplegia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0016241 MONDO:0016210 True alternating hemiplegia of childhood alternating hemiplegia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016242 MONDO:0002280 True hemoglobin C disease anemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0016242 MONDO:0019050 True hemoglobin C disease inherited hemoglobinopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0016243 MONDO:0002280 True hemoglobin E disease anemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0016243 MONDO:0019050 True hemoglobin E disease inherited hemoglobinopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0016244 MONDO:0003832 True atypical hemolytic-uremic syndrome complement deficiency UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0016244 MONDO:0019737 True atypical hemolytic-uremic syndrome thrombotic microangiopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016244 MONDO:0957097 True atypical hemolytic-uremic syndrome hereditary hemolytic uremic syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016255 MONDO:0021043 True uterine corpus mixed epithelial and mesenchymal neoplasm mixed neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016255 MONDO:0021254 True uterine corpus mixed epithelial and mesenchymal neoplasm corpus uteri neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016256 MONDO:0015159 True Hennekam syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016258 MONDO:0002879 True uterine corpus carcinofibroma uterine body mixed cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016259 MONDO:0002879 True carcinosarcoma of the corpus uteri uterine body mixed cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016259 MONDO:0006485 True carcinosarcoma of the corpus uteri uterine carcinosarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016260 MONDO:0005210 True uterine corpus rhabdomyosarcoma uterine corpus sarcoma UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016260 MONDO:0005210 True uterine corpus rhabdomyosarcoma uterine corpus sarcoma UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016260 MONDO:0005212 True uterine corpus rhabdomyosarcoma rhabdomyosarcoma UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016262 MONDO:0005058 True leiomyosarcoma of the corpus uteri leiomyosarcoma UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0016262 MONDO:0005210 True leiomyosarcoma of the corpus uteri uterine corpus sarcoma UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0016264 MONDO:0002251 True autoimmune hepatitis hepatitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0016281 MONDO:0002145 True 46,XX ovotesticular disorder of sex development disorder of sexual differentiation UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016262 MONDO:0005210 True leiomyosarcoma of the corpus uteri uterine corpus sarcoma UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0016264 MONDO:0000588 True autoimmune hepatitis autoimmune disorder of gastrointestinal tract UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0016281 MONDO:0002145 True 46,XX ovotesticular disorder of sex development disorder of sexual differentiation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016282 MONDO:0005212 True rhabdomyosarcoma of the cervix uteri rhabdomyosarcoma UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016282 MONDO:0016280 True rhabdomyosarcoma of the cervix uteri sarcoma of cervix uteri UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016283 MONDO:0005058 True leiomyosarcoma of the cervix uteri leiomyosarcoma UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016296 MONDO:0002254 True holoprosencephaly syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0016301 MONDO:0000153 True congenitally corrected transposition of the great arteries transposition of the great arteries UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016322 MONDO:0005043 True neuroendocrine cell hyperplasia of infancy hyperplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016349 MONDO:0001150 True congenital hydrocephalus hydrocephalus UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016349 MONDO:0002320 True congenital hydrocephalus congenital nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016283 MONDO:0016280 True leiomyosarcoma of the cervix uteri sarcoma of cervix uteri UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016284 MONDO:0016280 True primitive neuroectodermal tumor of the cervix uteri sarcoma of cervix uteri UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016290 MONDO:0015159 True Hernández-Aguirre Negrete syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016291 MONDO:0015338 True craniosynostosis, Herrmann-Opitz type syndromic craniosynostosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016293 MONDO:0004587 True congenital stationary night blindness hereditary night blindness UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0016294 MONDO:0015161 True Hirschsprung disease-type D brachydactyly syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016295 MONDO:0019245 True neuronal ceroid lipofuscinosis lysosomal lipid storage disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0016295 MONDO:0024237 True neuronal ceroid lipofuscinosis inherited neurodegenerative disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016296 MONDO:0002254 True holoprosencephaly syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0016296 MONDO:0002320 True holoprosencephaly congenital nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0016296 MONDO:0015159 True holoprosencephaly multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016296 MONDO:0018762 True holoprosencephaly non-acquired combined pituitary hormone deficiency UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016299 MONDO:0020022 True holoprosencephaly-caudal dysgenesis syndrome central nervous system malformation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016301 MONDO:0000153 True congenitally corrected transposition of the great arteries transposition of the great arteries UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016302 MONDO:0019443 True isolated congenitally uncorrected transposition of the great arteries dextro-looped transposition of the great arteries UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016303 MONDO:0019443 True congenitally uncorrected transposition of the great arteries with cardiac malformation dextro-looped transposition of the great arteries UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016304 MONDO:0009319 True classic pantothenate kinase-associated neurodegeneration pantothenate kinase-associated neurodegeneration UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016305 MONDO:0009319 True atypical pantothenate kinase-associated neurodegeneration pantothenate kinase-associated neurodegeneration UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016306 MONDO:0018982 True Niemann-Pick disease type C, severe perinatal form Niemann-Pick disease type C UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016307 MONDO:0018982 True Niemann-Pick disease type C, severe early infantile neurologic onset Niemann-Pick disease type C UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016308 MONDO:0018982 True Niemann-Pick disease type C, late infantile neurologic onset Niemann-Pick disease type C UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016309 MONDO:0018982 True Niemann-Pick disease type C, juvenile neurologic onset Niemann-Pick disease type C UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016310 MONDO:0018982 True Niemann-Pick disease type C, adult neurologic onset Niemann-Pick disease type C UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016311 MONDO:0019293 True Bockenheimer syndrome skin vascular disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016315 MONDO:0010674 True mucopolysaccharidosis type 2, severe form mucopolysaccharidosis type 2 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016316 MONDO:0010674 True mucopolysaccharidosis type 2, attenuated form mucopolysaccharidosis type 2 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016319 MONDO:0015364 True congenital insensitivity to pain with hyperhidrosis hereditary sensory and autonomic neuropathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016321 MONDO:0017019 True pulmonary interstitial glycogenosis interstitial lung disease specific to infancy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016322 MONDO:0017019 True neuroendocrine cell hyperplasia of infancy interstitial lung disease specific to infancy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016330 MONDO:0005045 True non-familial hypertrophic cardiomyopathy hypertrophic cardiomyopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016331 MONDO:0009229 True infantile systemic hyalinosis hyaline fibromatosis syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016333 MONDO:0005021 True familial dilated cardiomyopathy dilated cardiomyopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016338 MONDO:0005021 True non-familial dilated cardiomyopathy dilated cardiomyopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016340 MONDO:0005201 True familial restrictive cardiomyopathy restrictive cardiomyopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016342 MONDO:0016587 True familial isolated arrhythmogenic right ventricular dysplasia arrhythmogenic right ventricular cardiomyopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016344 MONDO:0000819 True hydranencephaly anencephaly UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0016344 MONDO:0017103 True hydranencephaly encephaloclastic disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016345 MONDO:0005201 True non-familial restrictive cardiomyopathy restrictive cardiomyopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016349 MONDO:0021147 True congenital hydrocephalus disorder of development or morphogenesis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016356 MONDO:0005100 True diffuse cutaneous systemic sclerosis systemic sclerosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016359 MONDO:0005100 True limited systemic sclerosis systemic sclerosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016367 MONDO:0005554 True dermatomyositis rheumatic disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0016368 MONDO:0010002 True Rothmund-Thomson syndrome type 1 Rothmund-Thomson syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0016369 MONDO:0010002 True Rothmund-Thomson syndrome type 2 Rothmund-Thomson syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0016354 MONDO:0015951 True xeroderma pigmentosum-Cockayne syndrome complex hereditary photodermatosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016356 MONDO:0005100 True diffuse cutaneous systemic sclerosis systemic sclerosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016358 MONDO:0005100 True limited cutaneous systemic sclerosis systemic sclerosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0016359 MONDO:0005100 True limited systemic sclerosis systemic sclerosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016360 MONDO:0018795 True marcothrombocytopenia with mitral valve insufficiency syndromic constitutional thrombocytopenia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016364 MONDO:0015369 True Joubert syndrome with ocular defect Joubert syndrome and related disorders UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016364 MONDO:0020022 True Joubert syndrome with ocular defect central nervous system malformation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016365 MONDO:0016166 True familial primary hyperparathyroidism hereditary hyperparathyroidism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016368 MONDO:0010002 True Rothmund-Thomson syndrome type 1 Rothmund-Thomson syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0016369 MONDO:0010002 True Rothmund-Thomson syndrome type 2 Rothmund-Thomson syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0016371 MONDO:0016374 True combined hyperactive dysfunction syndrome of the cranial nerves cranial neuralgia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016372 MONDO:0002639 True glossopharyngeal neuralgia glossopharyngeal nerve disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0016372 MONDO:0016374 True glossopharyngeal neuralgia cranial neuralgia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016374 MONDO:0015923 True cranial neuralgia acquired peripheral neuropathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016380 MONDO:0019280 True acquired hypertrichosis lanuginosa hypertrichosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016381 MONDO:0019280 True hypertrichosis lanuginosa congenita hypertrichosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016381 MONDO:0019287 True hypertrichosis lanuginosa congenita ectodermal dysplasia syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0016382 MONDO:0019268 True hereditary poikiloderma epidermal disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016383 MONDO:0001343 True nephrogenic diabetes insipidus impaired renal function disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016383 MONDO:0004782 True nephrogenic diabetes insipidus diabetes insipidus UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0016407 MONDO:0005240 True oligomeganephronia kidney disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0016383 MONDO:0004782 True nephrogenic diabetes insipidus diabetes insipidus UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0016383 MONDO:0015962 True nephrogenic diabetes insipidus inherited renal tubular disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016384 MONDO:0015770 True hypogonadotropic hypogonadism-frontoparietal alopecia syndrome congenital hypogonadotropic hypogonadism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016386 MONDO:0015770 True hypogonadotropic hypogonadism-retinitis pigmentosa syndrome congenital hypogonadotropic hypogonadism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016387 MONDO:0004069 True mitochondrial oxidative phosphorylation disorder inborn mitochondrial metabolism disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016390 MONDO:0016165 True familial hypoparathyroidism hereditary hypoparathyroidism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016391 MONDO:0015967 True neonatal diabetes mellitus monogenic diabetes UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016393 MONDO:0015770 True hyposmia-nasal and ocular hypoplasia-hypogonadotropic hypogonadism syndrome congenital hypogonadotropic hypogonadism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016394 MONDO:0015518 True sporadic infantile bilateral striatal necrosis infantile bilateral striatal necrosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016396 MONDO:0016113 True pontocerebellar hypoplasia type 1 bulbospinal muscular atrophy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016396 MONDO:0020135 True pontocerebellar hypoplasia type 1 pontocerebellar hypoplasia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0016396 MONDO:0024257 True pontocerebellar hypoplasia type 1 hereditary motor neuron disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016407 MONDO:0005240 True oligomeganephronia kidney disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0016408 MONDO:0015514 True permanent congenital hypothyroidism hereditary endocrine growth disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016408 MONDO:0018612 True permanent congenital hypothyroidism congenital hypothyroidism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016410 MONDO:0016408 True central congenital hypothyroidism permanent congenital hypothyroidism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016411 MONDO:0016410 True hypothyroidism due to deficient transcription factors involved in pituitary development or function central congenital hypothyroidism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016413 MONDO:0016555 True congenital hypothyroidism due to maternal intake of antithyroid drugs transient congenital hypothyroidism due to maternal factor UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016418 MONDO:0007803 True multiple system atrophy, cerebellar type multiple system atrophy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016419 MONDO:0004989 True hereditary breast carcinoma breast carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016422 MONDO:0017278 True autoimmune polyendocrinopathy type 3 autoimmune polyendocrinopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016423 MONDO:0017278 True autoimmune polyendocrinopathy type 4 autoimmune polyendocrinopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016424 MONDO:0005045 True progressive sensorineural hearing loss-hypertrophic cardiomyopathy syndrome hypertrophic cardiomyopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016426 MONDO:0002312 True fusariosis opportunistic mycosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0016430 MONDO:0002562 True Balo concentric sclerosis demyelinating disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0016431 MONDO:0018993 True autosomal dominant Charcot-Marie-Tooth disease type 2M Charcot-Marie-Tooth disease type 2 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016432 MONDO:0018234 True heart-hand syndrome dysostosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016432 MONDO:0019054 True heart-hand syndrome congenital limb malformation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016433 MONDO:0015159 True dysmorphism-short stature-deafness-disorder of sex development syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016433 MONDO:0020040 True dysmorphism-short stature-deafness-disorder of sex development syndrome 46,XY disorder of sex development UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016440 MONDO:0006209 True elastofibroma dorsi fibroblastic neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016453 MONDO:0005498 True foodborne botulism botulism UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0016463 MONDO:0002254 True syndromic agammaglobulinemia syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016466 MONDO:0015926 True asbestosis pneumoconiosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0016467 MONDO:0002254 True isotretinoin syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016473 MONDO:0015356 True familial rhabdoid tumor hereditary neoplastic syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016474 MONDO:0004670 True drug-induced lupus erythematosus lupus erythematosus UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0016484 MONDO:0019501 True Usher syndrome type 2 Usher syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0016485 MONDO:0019501 True Usher syndrome type 3 Usher syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0016450 MONDO:0020108 True autoimmune hemolytic anemia, cold type autoimmune hemolytic anemia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016453 MONDO:0005498 True foodborne botulism botulism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0016456 MONDO:0015159 True 5q14.3 microdeletion syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016456 MONDO:0016904 True 5q14.3 microdeletion syndrome partial deletion of the long arm of chromosome 5 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016458 MONDO:0016959 True 8q12 microduplication syndrome partial duplication of the long arm of chromosome 8 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016459 MONDO:0016901 True 2q23.1 microdeletion syndrome partial deletion of the long arm of chromosome 2 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016461 MONDO:0016956 True 5q35 microduplication syndrome partial trisomy of the long arm of chromosome 5 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016462 MONDO:0015977 True isolated agammaglobulinemia agammaglobulinemia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016463 MONDO:0015977 True syndromic agammaglobulinemia agammaglobulinemia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016466 MONDO:0015926 True asbestosis pneumoconiosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0016467 MONDO:0016677 True isotretinoin syndrome toxic or drug-related embryofetopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016468 MONDO:0005498 True toxin-mediated infectious botulism botulism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016471 MONDO:0017672 True pachyonychia congenita focal palmoplantar keratoderma UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016472 MONDO:0016075 True dracunculiasis filariasis UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0016473 MONDO:0015356 True familial rhabdoid tumor hereditary neoplastic syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016474 MONDO:0004670 True drug-induced lupus erythematosus lupus erythematosus UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0016475 MONDO:0007534 True Beckwith-Wiedemann syndrome due to imprinting defect of 11p15 Beckwith-Wiedemann syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016476 MONDO:0007534 True Beckwith-Wiedemann syndrome due to CDKN1C mutation Beckwith-Wiedemann syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016477 MONDO:0007534 True Beckwith-Wiedemann syndrome due to 11p15 microdeletion Beckwith-Wiedemann syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016477 MONDO:0016893 True Beckwith-Wiedemann syndrome due to 11p15 microdeletion partial deletion of the short arm of chromosome 11 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016478 MONDO:0007534 True Beckwith-Wiedemann syndrome due to 11p15 translocation/inversion Beckwith-Wiedemann syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016479 MONDO:0008394 True silver-Russell syndrome due to 7p11.2p13 microduplication Silver-Russell syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016479 MONDO:0016944 True silver-Russell syndrome due to 7p11.2p13 microduplication partial duplication of the short arm of chromosome 7 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016480 MONDO:0008394 True silver-Russell syndrome due to an imprinting defect of 11p15 Silver-Russell syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016481 MONDO:0008394 True silver-Russell syndrome due to 11p15 microduplication Silver-Russell syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016481 MONDO:0016948 True silver-Russell syndrome due to 11p15 microduplication partial duplication of the short arm of chromosome 11 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016482 MONDO:0008394 True silver-Russell syndrome due to maternal uniparental disomy of chromosome 11 Silver-Russell syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016483 MONDO:0005291 True intracranial berry aneurysm brain aneurysm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0016484 MONDO:0019501 True Usher syndrome type 2 Usher syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0016485 MONDO:0019501 True Usher syndrome type 3 Usher syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0016489 MONDO:0017145 True delta-beta-thalassemia beta-thalassemia and related diseases UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016490 MONDO:0017145 True hemoglobin C-beta-thalassemia syndrome beta-thalassemia and related diseases UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016491 MONDO:0017145 True hemoglobin E-beta-thalassemia syndrome beta-thalassemia and related diseases UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016496 MONDO:0016218 True pharyngeal-cervical-brachial variant of Guillain-Barre syndrome Guillain-Barre syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016497 MONDO:0016218 True paraparetic variant of Guillain-Barre syndrome Guillain-Barre syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016498 MONDO:0016218 True acute pure sensory neuropathy Guillain-Barre syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016499 MONDO:0016218 True acute pandysautonomia Guillain-Barre syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016500 MONDO:0016218 True acute sensory ataxic neuropathy Guillain-Barre syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016501 MONDO:0017014 True Hermansky-Pudlak syndrome with pulmonary fibrosis interstitial lung disease specific to childhood UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016501 MONDO:0019312 True Hermansky-Pudlak syndrome with pulmonary fibrosis Hermansky-Pudlak syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016502 MONDO:0019312 True Hermansky-Pudlak syndrome without pulmonary fibrosis Hermansky-Pudlak syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016503 MONDO:0019268 True congenital erosive and vesicular dermatosis epidermal disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016505 MONDO:0003924 True aldosterone-producing adrenal cortex adenoma adrenal cortex adenoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016512 MONDO:0002254 True Kabuki syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0016516 MONDO:0002254 True Kenny-Caffey syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0016532 MONDO:0002254 True Lennox-Gastaut syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0016535 MONDO:0019287 True hypohidrotic ectodermal dysplasia ectodermal dysplasia syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0016566 MONDO:0016075 True loiasis filariasis SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0016575 MONDO:0002254 True primary ciliary dyskinesia syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0016580 MONDO:0005087 True congenital pulmonary airway malformation respiratory system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016586 MONDO:0007950 True systemic mastocytosis mastocytosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0016607 MONDO:0018570 True odontohypophosphatasia hypophosphatasia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016511 MONDO:0019755 True infectious embryofetopathy developmental defect during embryogenesis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016512 MONDO:0002254 True Kabuki syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0016512 MONDO:0015159 True Kabuki syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016514 MONDO:0017610 True epidermolysis bullosa simplex with anodontia/hypodontia epidermolysis bullosa simplex UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016515 MONDO:0015770 True Kallmann syndrome-heart disease syndrome congenital hypogonadotropic hypogonadism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016516 MONDO:0002254 True Kenny-Caffey syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0016527 MONDO:0002412 True glycogen storage disease due to lactate dehydrogenase deficiency disorder of glycogen metabolism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016532 MONDO:0000414 True Lennox-Gastaut syndrome childhood electroclinical syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0016532 MONDO:0020072 True Lennox-Gastaut syndrome childhood-onset epilepsy syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016533 MONDO:0007099 True apolipoprotein A-II amyloidosis familial visceral amyloidosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016534 MONDO:0019835 True infundibulo-neurohypophysitis primary hypophysitis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016535 MONDO:0019287 True hypohidrotic ectodermal dysplasia ectodermal dysplasia syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0016537 MONDO:0003778 True lymphoproliferative syndrome inborn error of immunity UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0016539 MONDO:0011669 True atypical hypotonia-cystinuria syndrome hypotonia-cystinuria syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016540 MONDO:0020115 True congenital secondary polycythemia secondary polycythemia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016541 MONDO:0020115 True acquired secondary polycythemia secondary polycythemia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016542 MONDO:0003778 True immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections syndrome inborn error of immunity UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016544 MONDO:0017287 True IgG4-related mesenteritis IgG4-related disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016547 MONDO:0007534 True Beckwith-Wiedemann syndrome due to NSD1 mutation Beckwith-Wiedemann syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016549 MONDO:0018960 True primary megaureter, adult-onset form congenital primary megaureter UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016550 MONDO:0018960 True congenital primary megaureter, obstructed form congenital primary megaureter UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016551 MONDO:0018960 True congenital primary megaureter, refluxing form congenital primary megaureter UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016552 MONDO:0018960 True congenital primary megaureter, nonrefluxing and unobstructed form congenital primary megaureter UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016553 MONDO:0015770 True isolated congenital hypogonadotropic hypogonadism congenital hypogonadotropic hypogonadism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016555 MONDO:0015792 True transient congenital hypothyroidism due to maternal factor transient congenital hypothyroidism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016556 MONDO:0015792 True transient congenital hypothyroidism due to neonatal factor transient congenital hypothyroidism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016557 MONDO:0019284 True leukonychia totalis inherited isolated nail anomaly UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016558 MONDO:0005395 True familial congenital mirror movements movement disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0016559 MONDO:0018174 True glaucoma secondary to spherophakia/ectopia lentis and megalocornea hereditary glaucoma UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016561 MONDO:0022756 True 1q44 microdeletion syndrome chromosome 1q deletion UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016562 MONDO:0020488 True progressive supranuclear palsy-pure akinesia with gait freezing syndrome atypical progressive supranuclear palsy syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016563 MONDO:0020488 True progressive supranuclear palsy-corticobasal syndrome atypical progressive supranuclear palsy syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016564 MONDO:0020488 True progressive supranuclear palsy-progressive non-fluent aphasia syndrome atypical progressive supranuclear palsy syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016566 MONDO:0016075 True loiasis filariasis SUPPORTED SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0016567 MONDO:0005071 True locked-in syndrome nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0016570 MONDO:0017207 True primary pulmonary lymphoma primary organ-specific lymphoma UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016571 MONDO:0015159 True macrocephaly-short stature-paraplegia syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016571 MONDO:0020022 True macrocephaly-short stature-paraplegia syndrome central nervous system malformation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016574 MONDO:0019288 True hypo- and hypermelanotic cutaneous macules-retarded growth-intellectual disability syndrome skin pigmentation disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016575 MONDO:0002254 True primary ciliary dyskinesia syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0016575 MONDO:0005308 True primary ciliary dyskinesia ciliopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0016576 MONDO:0018234 True split hand-foot malformation dysostosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0016581 MONDO:0019512 True conotruncal heart malformations congenital heart malformation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016582 MONDO:0019512 True congenital mitral malformation congenital heart malformation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016584 MONDO:0015161 True mandibuloacral dysplasia multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016584 MONDO:0019707 True mandibuloacral dysplasia primary osteolysis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016584 MONDO:0020087 True mandibuloacral dysplasia hereditary lipodystrophy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016586 MONDO:0007950 True systemic mastocytosis mastocytosis UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0016587 MONDO:0000591 True arrhythmogenic right ventricular cardiomyopathy intrinsic cardiomyopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0016595 MONDO:0005119 True inhalational anthrax anthrax infection UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0016596 MONDO:0015327 True hyperphosphatasia-intellectual disability syndrome developmental anomaly of metabolic origin UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016596 MONDO:0017748 True hyperphosphatasia-intellectual disability syndrome inborn disorder of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016596 MONDO:0019054 True hyperphosphatasia-intellectual disability syndrome congenital limb malformation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016598 MONDO:0016540 True autosomal recessive secondary polycythemia not associated with VHL gene congenital secondary polycythemia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016600 MONDO:0008988 True acute neonatal citrullinemia type I citrullinemia type I UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016601 MONDO:0008988 True adult-onset citrullinemia type I citrullinemia type I UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016602 MONDO:0015991 True citrin deficiency citrullinemia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016603 MONDO:0016602 True citrullinemia type II citrin deficiency UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016605 MONDO:0018570 True perinatal lethal hypophosphatasia hypophosphatasia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016607 MONDO:0018570 True odontohypophosphatasia hypophosphatasia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016609 MONDO:0020122 True inflammatory myopathy with abundant macrophages acquired idiopathic inflammatory myopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016610 MONDO:0020122 True idiopathic eosinophilic myositis acquired idiopathic inflammatory myopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016611 MONDO:0044983 True lipoblastoma benign lipomatous neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016621 MONDO:0007739 True juvenile Huntington disease Huntington disease UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016642 MONDO:0016743 True meningioma tumor of meninges UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016668 MONDO:0019050 True sickle cell-beta-thalassemia disease syndrome inherited hemoglobinopathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016675 MONDO:0019942 True distal arthrogryposis type 10 distal arthrogryposis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0016680 MONDO:0021636 True high grade astrocytic tumor astrocytic tumor UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016612 MONDO:0000425 True X-linked cerebellar ataxia X-linked disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0016614 MONDO:0020044 True autosomal recessive ataxia due to PEX10 deficiency autosomal recessive metabolic cerebellar ataxia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016619 MONDO:0016535 True autosomal recessive hypohidrotic ectodermal dysplasia hypohidrotic ectodermal dysplasia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016620 MONDO:0002254 True primary hypertrophic osteoarthropathy syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0016622 MONDO:0018234 True Melhem-Fahl syndrome dysostosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016641 MONDO:0018234 True limb transversal defect-cardiac anomaly syndrome dysostosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016641 MONDO:0019054 True limb transversal defect-cardiac anomaly syndrome congenital limb malformation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016642 MONDO:0016743 True meningioma tumor of meninges UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016643 MONDO:0018234 True frontonasal dysplasia dysostosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0016644 MONDO:0019806 True logopenic progressive aphasia primary progressive aphasia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016646 MONDO:0016387 True autosomal dominant optic atrophy and peripheral neuropathy mitochondrial oxidative phosphorylation disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016646 MONDO:0020250 True autosomal dominant optic atrophy and peripheral neuropathy autosomal dominant optic atrophy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016648 MONDO:0005516 True multiple epiphyseal dysplasia osteochondrodysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0016648 MONDO:0018230 True multiple epiphyseal dysplasia skeletal dysplasia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016649 MONDO:0006025 True Warburg micro syndrome autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0016649 MONDO:0015159 True Warburg micro syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016649 MONDO:0016073 True Warburg micro syndrome syndromic microphthalmia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS +MONDO:0016649 MONDO:0018838 True Warburg micro syndrome lissencephaly spectrum disorders UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS +MONDO:0016652 MONDO:0016901 True 2q31.1 microdeletion syndrome partial deletion of the long arm of chromosome 2 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016653 MONDO:0016901 True 2q33.1 microdeletion syndrome partial deletion of the long arm of chromosome 2 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016655 MONDO:0016888 True 6p22 microdeletion syndrome partial deletion of the short arm of chromosome 6 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016656 MONDO:0016906 True 7q31 microdeletion syndrome partial deletion of the long arm of chromosome 7 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016657 MONDO:0016890 True 8p11.2 deletion syndrome partial deletion of the short arm of chromosome 8 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016658 MONDO:0016890 True 8p23.1 microdeletion syndrome partial deletion of the short arm of chromosome 8 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016659 MONDO:0016945 True 8p23.1 duplication syndrome partial duplication of the short arm of chromosome 8 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016660 MONDO:0006025 True autosomal recessive primary microcephaly autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0016660 MONDO:0016056 True autosomal recessive primary microcephaly isolated congenital microcephaly UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0016661 MONDO:0019751 True infantile onset panniculitis with uveitis and systemic granulomatosis autoinflammatory syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016662 MONDO:0019751 True idiopathic recurrent pericarditis autoinflammatory syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016664 MONDO:0018640 True drug-induced vasculitis secondary vasculitis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016668 MONDO:0019050 True sickle cell-beta-thalassemia disease syndrome inherited hemoglobinopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016670 MONDO:0019050 True sickle cell-hemoglobin d disease syndrome inherited hemoglobinopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016671 MONDO:0019050 True sickle cell-hemoglobin E disease syndrome inherited hemoglobinopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016672 MONDO:0019050 True hereditary persistence of fetal hemoglobin-sickle cell disease syndrome inherited hemoglobinopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016674 MONDO:0020040 True 46,XY partial gonadal dysgenesis 46,XY disorder of sex development UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016675 MONDO:0019942 True distal arthrogryposis type 10 distal arthrogryposis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0016676 MONDO:0017764 True recurrent infections-inflammatory syndrome due to zinc metabolism disorder syndrome disorder of zinc metabolism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016677 MONDO:0019755 True toxic or drug-related embryofetopathy developmental defect during embryogenesis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016680 MONDO:0021636 True high grade astrocytic tumor astrocytic tumor UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016680 MONDO:0100342 True high grade astrocytic tumor malignant glioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016684 MONDO:0016680 True anaplastic astrocytoma high grade astrocytic tumor UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016683 MONDO:0016680 True gliomatosis cerebri high grade astrocytic tumor UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016684 MONDO:0016680 True anaplastic astrocytoma high grade astrocytic tumor UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016684 MONDO:0019781 True anaplastic astrocytoma astrocytoma (excluding glioblastoma) UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016684 MONDO:0020633 True anaplastic astrocytoma anaplastic cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016686 MONDO:0016685 True diffuse astrocytoma low-grade astrocytoma UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016686 MONDO:0021639 True diffuse astrocytoma grade II glioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016687 MONDO:0016686 True protoplasmic astrocytoma diffuse astrocytoma UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0016688 MONDO:0016686 True fibrillary astrocytoma diffuse astrocytoma UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0016689 MONDO:0016686 True gemistocytic astrocytoma diffuse astrocytoma UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0016695 MONDO:0018744 True oligodendroglioma oligodendroglial tumor UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016687 MONDO:0016686 True protoplasmic astrocytoma diffuse astrocytoma UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0016688 MONDO:0016686 True fibrillary astrocytoma diffuse astrocytoma UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0016689 MONDO:0016686 True gemistocytic astrocytoma diffuse astrocytoma UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0016690 MONDO:0016685 True pleomorphic xanthoastrocytoma low-grade astrocytoma UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016691 MONDO:0016685 True pilocytic astrocytoma low-grade astrocytoma UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016692 MONDO:0016691 True pilomyxoid astrocytoma pilocytic astrocytoma UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0016693 MONDO:0007667 True subependymal giant cell astrocytoma subependymoma UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0016693 MONDO:0016685 True subependymal giant cell astrocytoma low-grade astrocytoma UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016695 MONDO:0018744 True oligodendroglioma oligodendroglial tumor UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016695 MONDO:0021639 True oligodendroglioma grade II glioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016696 MONDO:0018744 True anaplastic oligodendroglioma oligodendroglial tumor UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016696 MONDO:0018744 True anaplastic oligodendroglioma oligodendroglial tumor UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016696 MONDO:0020633 True anaplastic oligodendroglioma anaplastic cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016696 MONDO:0021640 True anaplastic oligodendroglioma grade III glioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016698 MONDO:0003266 True ependymoma ependymal tumor UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016698 MONDO:0003266 True ependymoma ependymal tumor UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016698 MONDO:0021639 True ependymoma grade II glioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016699 MONDO:0003266 True myxopapillary ependymoma ependymal tumor UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016700 MONDO:0003266 True anaplastic ependymoma ependymal tumor UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016699 MONDO:0003266 True myxopapillary ependymoma ependymal tumor UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016700 MONDO:0003266 True anaplastic ependymoma ependymal tumor UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016700 MONDO:0020633 True anaplastic ependymoma anaplastic cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016700 MONDO:0021640 True anaplastic ependymoma grade III glioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016702 MONDO:0003268 True oligoastrocytoma mixed glioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0016702 MONDO:0003268 True oligoastrocytoma mixed glioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0016702 MONDO:0021639 True oligoastrocytoma grade II glioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016703 MONDO:0005853 True anaplastic oligoastrocytoma malignant mixed neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016703 MONDO:0020633 True anaplastic oligoastrocytoma anaplastic cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016703 MONDO:0021640 True anaplastic oligoastrocytoma grade III glioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016705 MONDO:0021637 True angiocentric glioma low grade glioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0016706 MONDO:0002682 True chordoid glioma of the third ventricle cerebral ventricle cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0016707 MONDO:0021042 True astroblastoma glioma UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016709 MONDO:0007959 True anaplastic/large cell medulloblastoma medulloblastoma UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016710 MONDO:0007959 True medulloblastoma with extensive nodularity medulloblastoma UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016711 MONDO:0007959 True desmoplastic/nodular medulloblastoma medulloblastoma UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016712 MONDO:0007959 True classic medulloblastoma medulloblastoma UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016705 MONDO:0021637 True angiocentric glioma low grade glioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0016706 MONDO:0002682 True chordoid glioma of the third ventricle cerebral ventricle cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0016707 MONDO:0021042 True astroblastoma glioma UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016709 MONDO:0007959 True anaplastic/large cell medulloblastoma medulloblastoma UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016710 MONDO:0007959 True medulloblastoma with extensive nodularity medulloblastoma UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016711 MONDO:0007959 True desmoplastic/nodular medulloblastoma medulloblastoma UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016712 MONDO:0007959 True classic medulloblastoma medulloblastoma UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016713 MONDO:0002714 True central nervous system Ewing sarcoma/peripheral primitive neuroectodermal tumor central nervous system cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016713 MONDO:0021038 True central nervous system Ewing sarcoma/peripheral primitive neuroectodermal tumor Ewing sarcoma/peripheral primitive neuroectodermal tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016715 MONDO:0000640 True ependymoblastoma central nervous system primitive neuroectodermal neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0016717 MONDO:0021211 True choroid plexus neoplasm brain neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016718 MONDO:0002681 True choroid plexus carcinoma choroid plexus cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0016718 MONDO:0004993 True choroid plexus carcinoma carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0016722 MONDO:0003249 True pineoblastoma pineal gland cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0016718 MONDO:0002681 True choroid plexus carcinoma choroid plexus cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0016718 MONDO:0004993 True choroid plexus carcinoma carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0016719 MONDO:0015159 True microcephaly-seizures-intellectual disability-heart disease syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016722 MONDO:0003249 True pineoblastoma pineal gland cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0016722 MONDO:0005564 True pineoblastoma embryonal neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0016723 MONDO:0000627 True pineocytoma benign endocrine neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0016723 MONDO:0021451 True pineocytoma benign neoplasm of brain UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016723 MONDO:0024890 True pineocytoma pineal parenchymal cell neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016724 MONDO:0021193 True papillary tumor of the pineal region neuroepithelial neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016724 MONDO:0021232 True papillary tumor of the pineal region pineal body neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016727 MONDO:0016729 True extraventricular neurocytoma mixed neuronal-glial tumor UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016729 MONDO:0021193 True mixed neuronal-glial tumor neuroepithelial neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016730 MONDO:0016729 True gangliocytoma mixed neuronal-glial tumor UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016733 MONDO:0016729 True ganglioglioma mixed neuronal-glial tumor UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016735 MONDO:0016729 True papillary glioneuronal tumor mixed neuronal-glial tumor UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016736 MONDO:0016729 True rosette-forming glioneuronal tumor of fourth ventricule mixed neuronal-glial tumor UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016739 MONDO:0005744 True yolk sac tumor of central nervous system yolk sac tumor UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016730 MONDO:0016729 True gangliocytoma mixed neuronal-glial tumor UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016731 MONDO:0016729 True desmoplastic infantile astrocytoma/ganglioglioma mixed neuronal-glial tumor UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016733 MONDO:0016729 True ganglioglioma mixed neuronal-glial tumor UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016735 MONDO:0016729 True papillary glioneuronal tumor mixed neuronal-glial tumor UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016736 MONDO:0016729 True rosette-forming glioneuronal tumor of fourth ventricule mixed neuronal-glial tumor UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016739 MONDO:0005744 True yolk sac tumor of central nervous system yolk sac tumor UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016740 MONDO:0002714 True choriocarcinoma of the central nervous system central nervous system cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016740 MONDO:0003578 True choriocarcinoma of the central nervous system extragonadal nonseminomatous germ cell tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016740 MONDO:0005207 True choriocarcinoma of the central nervous system choriocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -7939,539 +13677,2314 @@ MONDO:0016740 MONDO:0020574 True choriocarcinoma of the central nervous system c MONDO:0016742 MONDO:0002714 True mixed germ cell tumor of central nervous system central nervous system cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016742 MONDO:0003000 True mixed germ cell tumor of central nervous system central nervous system germ cell tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016743 MONDO:0006130 True tumor of meninges central nervous system neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016745 MONDO:0016743 True diffuse leptomeningeal melanocytosis tumor of meninges UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016746 MONDO:0003222 True meningeal melanocytoma central nervous system melanocytic neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0016747 MONDO:0003222 True primary melanoma of the central nervous system central nervous system melanocytic neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016747 MONDO:0006320 True primary melanoma of the central nervous system non-cutaneous melanoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016750 MONDO:0015159 True microcephaly-cleft palate syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016751 MONDO:0021089 True malignant perineurioma peripheral nervous system cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016755 MONDO:0002547 True neurofibroma nerve sheath neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0016757 MONDO:0017827 True malignant triton tumor malignant peripheral nerve sheath tumor UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0016773 MONDO:0006572 True atrophic lichen planus lichen planus UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016778 MONDO:0005498 True iatrogenic botulism botulism UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016785 MONDO:0006248 True complete hydatidiform mole hydatidiform mole UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016786 MONDO:0006248 True partial hydatidiform mole hydatidiform mole UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016787 MONDO:0018944 True epithelioid trophoblastic tumor gestational trophoblastic neoplasm UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0016812 MONDO:0005071 True dopa-responsive dystonia nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016823 MONDO:0005550 True mycetoma infectious disease SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016752 MONDO:0016749 True benign peripheral nerve sheath tumor tumor of cranial and spinal nerves UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016755 MONDO:0002547 True neurofibroma nerve sheath neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0016755 MONDO:0016752 True neurofibroma benign peripheral nerve sheath tumor UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016757 MONDO:0017827 True malignant triton tumor malignant peripheral nerve sheath tumor UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0016759 MONDO:0016113 True pontocerebellar hypoplasia type 2 bulbospinal muscular atrophy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016759 MONDO:0020135 True pontocerebellar hypoplasia type 2 pontocerebellar hypoplasia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0016759 MONDO:0024257 True pontocerebellar hypoplasia type 2 hereditary motor neuron disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016760 MONDO:0015159 True microcephaly-microcornea syndrome, Seemanova type multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016761 MONDO:0005516 True spondyloepiphyseal dysplasia osteochondrodysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0016763 MONDO:0018230 True spondylometaphyseal dysplasia skeletal dysplasia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016765 MONDO:0016897 True 19p13.12 microdeletion syndrome partial deletion of the short arm of chromosome 19 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016776 MONDO:0004907 True frontal fibrosing alopecia alopecia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016777 MONDO:0005498 True inhalational botulism botulism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016778 MONDO:0005498 True iatrogenic botulism botulism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016779 MONDO:0015159 True multiple congenital anomalies due to 14q32.2 maternally expressed gene defect multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016780 MONDO:0014541 True paternal 14q32.2 microdeletion syndrome motor developmental delay due to 14q32.2 paternally expressed gene defect UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016780 MONDO:0016912 True paternal 14q32.2 microdeletion syndrome partial deletion of the long arm of chromosome 14 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016781 MONDO:0016779 True maternal 14q32.2 microdeletion syndrome multiple congenital anomalies due to 14q32.2 maternally expressed gene defect UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016782 MONDO:0014541 True paternal 14q32.2 hypomethylation syndrome motor developmental delay due to 14q32.2 paternally expressed gene defect UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016783 MONDO:0016779 True maternal 14q32.2 hypermethylation syndrome multiple congenital anomalies due to 14q32.2 maternally expressed gene defect UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016785 MONDO:0006248 True complete hydatidiform mole hydatidiform mole UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016786 MONDO:0006248 True partial hydatidiform mole hydatidiform mole UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016787 MONDO:0018944 True epithelioid trophoblastic tumor gestational trophoblastic neoplasm UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0016789 MONDO:0019243 True pyruvate metabolism disorder inborn disorder of energy metabolism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016790 MONDO:0019243 True tricarboxylic acid cycle disorder inborn disorder of energy metabolism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016796 MONDO:0018158 True mitochondrial DNA depletion syndrome, encephalomyopathic form mitochondrial DNA depletion syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016798 MONDO:0016387 True ataxia neuropathy spectrum mitochondrial oxidative phosphorylation disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016800 MONDO:0004069 True mitochondrial membrane transport disorder inborn mitochondrial metabolism disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016801 MONDO:0016800 True mitochondrial substrate carrier disorder mitochondrial membrane transport disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016802 MONDO:0016800 True mitochondrial protein import disorder mitochondrial membrane transport disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016806 MONDO:0016387 True maternally-inherited mitochondrial dystonia mitochondrial oxidative phosphorylation disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016810 MONDO:0005181 True autosomal recessive progressive external ophthalmoplegia progressive external ophthalmoplegia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016817 MONDO:0002254 True Meier-Gorlin syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0016819 MONDO:0015770 True Moebius syndrome-axonal neuropathy-hypogonadotropic hypogonadism syndrome congenital hypogonadotropic hypogonadism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016820 MONDO:0006693 True Moyamoya disease cerebral arterial disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0016823 MONDO:0005550 True mycetoma infectious disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016824 MONDO:0003342 True infantile myofibromatosis benign perivascular tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0016862 MONDO:0007318 True Alagille syndrome due to a JAG1 point mutation Alagille syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0016974 MONDO:0006456 True thymoma type B thymoma UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0016975 MONDO:0006456 True thymoma type AB thymoma UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0016982 MONDO:0002095 True angiosarcoma vascular cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0016825 MONDO:0009637 True mitochondrial myopathy-lactic acidosis-deafness syndrome inborn mitochondrial myopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016826 MONDO:0016624 True methylmalonic aciduria and homocystinuria inherited deficiency anemia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016826 MONDO:0019215 True methylmalonic aciduria and homocystinuria classic organic aciduria UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016826 MONDO:0019220 True methylmalonic aciduria and homocystinuria inborn disorder of cobalamin metabolism and transport UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016828 MONDO:0020099 True autosomal recessive sideroblastic anemia inherited sideroblastic anemia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016830 MONDO:0016106 True Emery-Dreifuss muscular dystrophy progressive muscular dystrophy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016830 MONDO:0016333 True Emery-Dreifuss muscular dystrophy familial dilated cardiomyopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0016833 MONDO:0016912 True 14q12 microdeletion syndrome partial deletion of the long arm of chromosome 14 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016834 MONDO:0016949 True 16p11.2p12.2 microduplication syndrome partial duplication of the short arm of chromosome 16 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016835 MONDO:0016964 True 14q11.2 microduplication syndrome partial duplication of the long arm of chromosome 14 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016836 MONDO:0016894 True 16p13.11 microdeletion syndrome partial deletion of the short arm of chromosome 16 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016837 MONDO:0016949 True 16p13.11 microduplication syndrome partial duplication of the short arm of chromosome 16 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016838 MONDO:0016914 True 16q24.3 microdeletion syndrome partial deletion of the long arm of chromosome 16 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016839 MONDO:0022754 True distal 17p13.3 microdeletion syndrome chromosome 17p deletion UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016840 MONDO:0016950 True trisomy 17p partial duplication of the short arm of chromosome 17 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016841 MONDO:0016898 True 20p12.3 microdeletion syndrome partial monosomy of the short arm of chromosome 20 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016842 MONDO:0016918 True paternal 20q13.2q13.3 microdeletion syndrome partial deletion of the long arm of chromosome 20 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016843 MONDO:0016918 True 20q13.33 microdeletion syndrome partial deletion of the long arm of chromosome 20 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016844 MONDO:0016938 True trisomy 20p partial trisomy of chromosome 20 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016845 MONDO:0016919 True 21q22.11q22.12 microdeletion syndrome partial deletion of the long arm of chromosome 21 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016847 MONDO:0016952 True trisomy 1q partial duplication of the long arm of chromosome 1 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016850 MONDO:0017004 True atypical Norrie disease due to monosomy Xp11.3 partial monosomy of the short arm of chromosome X UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016855 MONDO:0009341 True Mowat-Wilson syndrome due to monosomy 2q22 Mowat-Wilson syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016855 MONDO:0016901 True Mowat-Wilson syndrome due to monosomy 2q22 partial deletion of the long arm of chromosome 2 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016856 MONDO:0009341 True Mowat-Wilson syndrome due to a ZEB2 point mutation Mowat-Wilson syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016860 MONDO:0016904 True familial adenomatous polyposis due to 5q22.2 microdeletion partial deletion of the long arm of chromosome 5 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016860 MONDO:0021055 True familial adenomatous polyposis due to 5q22.2 microdeletion classic familial adenomatous polyposis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016861 MONDO:0007318 True Alagille syndrome due to 20p12 microdeletion Alagille syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016861 MONDO:0016898 True Alagille syndrome due to 20p12 microdeletion partial monosomy of the short arm of chromosome 20 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016862 MONDO:0007318 True Alagille syndrome due to a JAG1 point mutation Alagille syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0016863 MONDO:0011812 True Okihiro syndrome due to 20q13 microdeletion Duane-radial ray syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016863 MONDO:0016918 True Okihiro syndrome due to 20q13 microdeletion partial deletion of the long arm of chromosome 20 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016864 MONDO:0011812 True Okihiro syndrome due to a point mutation Duane-radial ray syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016865 MONDO:0012455 True Kleefstra syndrome due to a point mutation Kleefstra syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016877 MONDO:0017277 True partial deletion of the long arm of chromosome 12 partial deletion of chromosome 12 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016883 MONDO:0016866 True partial deletion of the short arm of chromosome 1 partial deletion of chromosome 1 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016884 MONDO:0016867 True partial deletion of the short arm of chromosome 2 partial deletion of chromosome 2 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016885 MONDO:0016868 True partial deletion of the short arm of chromosome 3 partial deletion of chromosome 3 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016887 MONDO:0016870 True partial deletion of the short arm of chromosome 5 partial deletion of chromosome 5 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016888 MONDO:0016871 True partial deletion of the short arm of chromosome 6 partial deletion of chromosome 6 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016889 MONDO:0016872 True partial deletion of the short arm of chromosome 7 partial deletion of chromosome 7 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016890 MONDO:0016873 True partial deletion of the short arm of chromosome 8 partial deletion of chromosome 8 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016892 MONDO:0016875 True partial deletion of the short arm of chromosome 10 partial deletion of chromosome 10 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016893 MONDO:0016876 True partial deletion of the short arm of chromosome 11 partial deletion of chromosome 11 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016894 MONDO:0016878 True partial deletion of the short arm of chromosome 16 partial deletion of chromosome 16 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016897 MONDO:0016881 True partial deletion of the short arm of chromosome 19 partial deletion of chromosome 19 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016898 MONDO:0016882 True partial monosomy of the short arm of chromosome 20 partial deletion of chromosome 20 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016901 MONDO:0016867 True partial deletion of the long arm of chromosome 2 partial deletion of chromosome 2 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016902 MONDO:0016868 True partial deletion of the long arm of chromosome 3 partial deletion of chromosome 3 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016903 MONDO:0016869 True partial deletion of the long arm of chromosome 4 partial deletion of chromosome 4 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016904 MONDO:0016870 True partial deletion of the long arm of chromosome 5 partial deletion of chromosome 5 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016905 MONDO:0016871 True partial deletion of the long arm of chromosome 6 partial deletion of chromosome 6 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016906 MONDO:0016872 True partial deletion of the long arm of chromosome 7 partial deletion of chromosome 7 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016907 MONDO:0016873 True partial deletion of the long arm of chromosome 8 partial deletion of chromosome 8 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016908 MONDO:0016874 True partial monosomy of the long arm of chromosome 9 partial deletion of chromosome 9 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016909 MONDO:0016875 True partial monosomy of the long arm of chromosome 10 partial deletion of chromosome 10 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016910 MONDO:0016876 True partial deletion of the long arm of chromosome 11 partial deletion of chromosome 11 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016914 MONDO:0016878 True partial deletion of the long arm of chromosome 16 partial deletion of chromosome 16 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016915 MONDO:0016879 True partial deletion of the long arm of chromosome 17 partial deletion of chromosome 17 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016917 MONDO:0016881 True partial deletion of the long arm of chromosome 19 partial deletion of chromosome 19 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016918 MONDO:0016882 True partial deletion of the long arm of chromosome 20 partial deletion of chromosome 20 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016939 MONDO:0016922 True partial duplication of the short arm of chromosome 2 partial duplication of chromosome 2 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016940 MONDO:0016923 True partial duplication of the short arm of chromosome 3 partial duplication of chromosome 3 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016941 MONDO:0016924 True partial duplication of the short arm of chromosome 4 partial duplication of chromosome 4 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016942 MONDO:0016925 True partial trisomy/tetrasomy of the short arm of chromosome 5 partial trisomy/tetrasomy of chromosome 5 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016943 MONDO:0016927 True partial duplication of the short arm of chromosome 6 partial duplication of chromosome 6 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016944 MONDO:0016928 True partial duplication of the short arm of chromosome 7 partial duplication of chromosome 7 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016945 MONDO:0016929 True partial duplication of the short arm of chromosome 8 partial duplication of chromosome 8 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016947 MONDO:0016931 True partial duplication of the short arm of chromosome 10 partial duplication of chromosome 10 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016948 MONDO:0016932 True partial duplication of the short arm of chromosome 11 partial duplication of chromosome 11 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016949 MONDO:0016934 True partial duplication of the short arm of chromosome 16 partial duplication of chromosome 16 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016950 MONDO:0016935 True partial duplication of the short arm of chromosome 17 partial duplication of chromosome 17 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016951 MONDO:0016936 True partial trisomy/tetrasomy of the short arm of chromosome 18 partial trisomy/tetrasomy of chromosome 18 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016952 MONDO:0016921 True partial duplication of the long arm of chromosome 1 partial duplication of chromosome 1 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016953 MONDO:0016922 True partial duplication of the long arm of chromosome 2 partial duplication of chromosome 2 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016954 MONDO:0016923 True partial duplication of the long arm of chromosome 3 partial duplication of chromosome 3 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016955 MONDO:0016924 True partial duplication of the long arm of chromosome 4 partial duplication of chromosome 4 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016956 MONDO:0016925 True partial trisomy of the long arm of chromosome 5 partial trisomy/tetrasomy of chromosome 5 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016957 MONDO:0016927 True partial duplication of the long arm of chromosome 6 partial duplication of chromosome 6 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016958 MONDO:0016928 True partial duplication of the long arm of chromosome 7 partial duplication of chromosome 7 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016959 MONDO:0016929 True partial duplication of the long arm of chromosome 8 partial duplication of chromosome 8 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016960 MONDO:0016930 True partial trisomy of the long arm of chromosome 9 partial trisomy/tetrasomy of chromosome 9 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016961 MONDO:0016931 True partial duplication of the long arm of chromosome 10 partial duplication of chromosome 10 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016966 MONDO:0016934 True partial trisomy of the long arm of chromosome 16 partial duplication of chromosome 16 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016967 MONDO:0016935 True partial duplication of the long arm of chromosome 17 partial duplication of chromosome 17 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016968 MONDO:0016936 True partial trisomy of the long arm of chromosome 18 partial trisomy/tetrasomy of chromosome 18 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016969 MONDO:0016937 True partial duplication of the long arm of chromosome 19 partial duplication of chromosome 19 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016970 MONDO:0016938 True partial trisomy of the long arm of chromosome 20 partial trisomy of chromosome 20 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016971 MONDO:0016106 True limb-girdle muscular dystrophy progressive muscular dystrophy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016974 MONDO:0006456 True thymoma type B thymoma UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0016975 MONDO:0006456 True thymoma type AB thymoma UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0016976 MONDO:0020516 True well-differentiated thymic neuroendocrine carcinoma thymic neuroendocrine carcinoma UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016977 MONDO:0020516 True moderately-differentiated thymic neuroendocrine carcinoma thymic neuroendocrine carcinoma UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016978 MONDO:0020516 True poorly differentiated thymic neuroendocrine carcinoma thymic neuroendocrine carcinoma UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016979 MONDO:0019118 True MRCS syndrome inherited retinal dystrophy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016981 MONDO:0017578 True infantile spams-psychomotor retardation-progressive brain atrophy-basal ganglia disease syndrome disorder of thiamine metabolism and transport UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016982 MONDO:0002095 True angiosarcoma vascular cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0016982 MONDO:0018078 True angiosarcoma soft tissue sarcoma UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016987 MONDO:0015548 True neuroacanthocytosis Huntington disease-like syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016988 MONDO:0015624 True hyperinsulinism due to HNF4A deficiency diazoxide-sensitive diffuse hyperinsulinism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016989 MONDO:0002254 True Fuchs heterochromic iridocyclitis syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0016989 MONDO:0017634 True Fuchs heterochromic iridocyclitis non-infectious anterior uveitis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016995 MONDO:0016743 True familial multiple meningioma tumor of meninges UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017004 MONDO:0017003 True partial monosomy of the short arm of chromosome X partial deletion of chromosome X UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017007 MONDO:0017003 True partial deletion of the long arm of chromosome X partial deletion of chromosome X UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017009 MONDO:0017008 True partial duplication of the short arm of chromosome X partial duplication of chromosome X UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017010 MONDO:0017008 True partial duplication of the long arm of chromosome X partial duplication of chromosome X UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017012 MONDO:0016921 True partial duplication of the short arm of chromosome 1 partial duplication of chromosome 1 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017013 MONDO:0016945 True trisomy 8p partial duplication of the short arm of chromosome 8 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017014 MONDO:0015925 True interstitial lung disease specific to childhood interstitial lung disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017015 MONDO:0017014 True primary interstitial lung disease specific to childhood interstitial lung disease specific to childhood UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017018 MONDO:0015925 True isolated pulmonary capillaritis interstitial lung disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017019 MONDO:0017015 True interstitial lung disease specific to infancy primary interstitial lung disease specific to childhood UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017025 MONDO:0018310 True Langerhans cell histiocytosis specific to childhood Langerhans cell histiocytosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017026 MONDO:0015925 True interstitial lung disease specific to adulthood interstitial lung disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017029 MONDO:0018310 True Langerhans cell histiocytosis specific to adulthood Langerhans cell histiocytosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017039 MONDO:0015925 True drug or radiation exposure-related interstitial lung disease interstitial lung disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017042 MONDO:0005516 True thanatophoric dysplasia osteochondrodysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0017042 MONDO:0019685 True thanatophoric dysplasia FGFR3-related chondrodysplasia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017043 MONDO:0005564 True congenital mesoblastic nephroma embryonal neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0017043 MONDO:0036511 True congenital mesoblastic nephroma childhood malignant kidney neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017044 MONDO:0019741 True adult familial nephronophthisis-spastic quadriparesia syndrome familial cystic renal disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017050 MONDO:0005564 True intraocular medulloepithelioma embryonal neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017050 MONDO:0021220 True intraocular medulloepithelioma eye neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017078 MONDO:0002320 True cephalocele congenital nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017079 MONDO:0001147 True meningoencephalocele meningocele UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017124 MONDO:0004848 True noma ulcerative stomatitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0017138 MONDO:0002254 True Opitz G/BBB syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0017207 MONDO:0005062 True primary organ-specific lymphoma lymphoma UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017215 MONDO:0002254 True calciphylaxis syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0017236 MONDO:0002462 True rapidly progressive glomerulonephritis glomerulonephritis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0017255 MONDO:0020283 True panuveitis uveitis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0017278 MONDO:0002254 True autoimmune polyendocrinopathy syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0017051 MONDO:0009563 True classic maple syrup urine disease maple syrup urine disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017052 MONDO:0009563 True intermediate maple syrup urine disease maple syrup urine disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017053 MONDO:0009563 True intermittent maple syrup urine disease maple syrup urine disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017054 MONDO:0009563 True thiamine-responsive maple syrup urine disease maple syrup urine disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017055 MONDO:0016677 True mycophenolate mofetil embryopathy toxic or drug-related embryofetopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017056 MONDO:0013578 True DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion DYRK1A-related intellectual disability syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017056 MONDO:0016919 True DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion partial deletion of the long arm of chromosome 21 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017058 MONDO:0018778 True autosomal recessive intermediate Charcot-Marie-Tooth disease intermediate Charcot-Marie-Tooth disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017060 MONDO:0018968 True open iniencephaly iniencephaly UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017061 MONDO:0018968 True closed iniencephaly iniencephaly UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017062 MONDO:0019351 True spina bifida aperta isolated spina bifida UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017069 MONDO:0019351 True spina bifida cystica isolated spina bifida UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017076 MONDO:0017069 True posterior meningocele spina bifida cystica UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017077 MONDO:0017069 True myelocystocele spina bifida cystica UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017079 MONDO:0017078 True meningoencephalocele cephalocele UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017080 MONDO:0016057 True occipital encephalocele isolated encephalocele UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017081 MONDO:0016057 True parietal encephalocele isolated encephalocele UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017082 MONDO:0016057 True basal encephalocele isolated encephalocele UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017086 MONDO:0018075 True primary tethered cord syndrome neural tube defect UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017087 MONDO:0018075 True neurenteric cyst neural tube defect UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017088 MONDO:0018075 True isolated amyelia neural tube defect UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017089 MONDO:0016608 True isolated megalencephaly megalencephaly UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017091 MONDO:0000087 True bilateral polymicrogyria polymicrogyria UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017092 MONDO:0000087 True unilateral polymicrogyria polymicrogyria UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017093 MONDO:0017092 True unilateral focal polymicrogyria unilateral polymicrogyria UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017095 MONDO:0019009 True isolated focal cortical dysplasia type I isolated focal cortical dysplasia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017096 MONDO:0017095 True isolated focal cortical dysplasia type Ia isolated focal cortical dysplasia type I UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017097 MONDO:0017095 True isolated focal cortical dysplasia type Ib isolated focal cortical dysplasia type I UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017098 MONDO:0017095 True isolated focal cortical dysplasia type Ic isolated focal cortical dysplasia type I UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017100 MONDO:0015134 True neutropenia-monocytopenia-deafness syndrome constitutional neutropenia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017101 MONDO:0011818 True isolated focal cortical dysplasia type IIa isolated focal cortical dysplasia type II UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017102 MONDO:0011818 True isolated focal cortical dysplasia type IIb isolated focal cortical dysplasia type II UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017105 MONDO:0020022 True glioependymal/ependymal cyst central nervous system malformation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017107 MONDO:0020022 True isolated cerebellar vermis agenesis central nervous system malformation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017108 MONDO:0017107 True isolated total cerebellar vermis agenesis isolated cerebellar vermis agenesis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017109 MONDO:0017107 True isolated partial cerebellar vermis agenesis isolated cerebellar vermis agenesis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017110 MONDO:0009072 True isolated Dandy-Walker malformation with hydrocephalus Dandy-Walker syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017111 MONDO:0009072 True isolated Dandy-Walker malformation without hydrocephalus Dandy-Walker syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017112 MONDO:0020022 True isolated unilateral hemispheric cerebellar hypoplasia central nervous system malformation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017113 MONDO:0020022 True isolated bilateral hemispheric cerebellar hypoplasia central nervous system malformation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017116 MONDO:0016349 True congenital communicating hydrocephalus congenital hydrocephalus UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017117 MONDO:0016349 True congenital non-communicating hydrocephalus congenital hydrocephalus UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017123 MONDO:0002254 True arthrogryposis-renal dysfunction-cholestasis syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0017123 MONDO:0017755 True arthrogryposis-renal dysfunction-cholestasis syndrome inborn disorder of bilirubin metabolism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017124 MONDO:0004848 True noma ulcerative stomatitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0017134 MONDO:0019287 True odonto-onycho dysplasia-alopecia syndrome ectodermal dysplasia syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017136 MONDO:0018230 True omodysplasia skeletal dysplasia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017137 MONDO:0016075 True onchocerciasis filariasis UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0017138 MONDO:0002254 True Opitz G/BBB syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0017138 MONDO:0003847 True Opitz G/BBB syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0017138 MONDO:0008537 True Opitz G/BBB syndrome telecanthus UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0017138 MONDO:0015159 True Opitz G/BBB syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017139 MONDO:0015498 True oromandibular-limb hypogenesis syndrome oromandibular-limb anomalies syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017145 MONDO:0019050 True beta-thalassemia and related diseases inherited hemoglobinopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017147 MONDO:0015924 True idiopathic pulmonary arterial hypertension pulmonary arterial hypertension UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017148 MONDO:0015924 True heritable pulmonary arterial hypertension pulmonary arterial hypertension UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017149 MONDO:0015924 True drug- or toxin-induced pulmonary arterial hypertension pulmonary arterial hypertension UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017160 MONDO:0017276 True behavioral variant of frontotemporal dementia frontotemporal dementia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017161 MONDO:0015547 True frontotemporal dementia with motor neuron disease hereditary dementia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017161 MONDO:0024237 True frontotemporal dementia with motor neuron disease inherited neurodegenerative disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017162 MONDO:0018234 True imperforate oropharynx-costo vetebral anomalies syndrome dysostosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017165 MONDO:0019218 True bile acid CoA ligase deficiency and defective amidation inborn disorder of bile acid synthesis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017169 MONDO:0015079 True multiple endocrine neoplasia multiple polyglandular tumor UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017171 MONDO:0009661 True mucopolysaccharidosis type 6, rapidly progressing mucopolysaccharidosis type 6 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017172 MONDO:0009661 True mucopolysaccharidosis type 6, slowly progressing mucopolysaccharidosis type 6 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017174 MONDO:0007182 True Machado-Joseph disease type 1 Machado-Joseph disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017175 MONDO:0007182 True Machado-Joseph disease type 2 Machado-Joseph disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017176 MONDO:0007182 True Machado-Joseph disease type 3 Machado-Joseph disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017177 MONDO:0019716 True hemihyperplasia-multiple lipomatosis syndrome overgrowth syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017177 MONDO:0019755 True hemihyperplasia-multiple lipomatosis syndrome developmental defect during embryogenesis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017180 MONDO:0016961 True 10q22.3q23.3 microduplication syndrome partial duplication of the long arm of chromosome 10 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017182 MONDO:0005803 True familial hyperinsulinism hyperinsulinemic hypoglycemia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017183 MONDO:0015624 True hyperinsulinism due to UCP2 deficiency diazoxide-sensitive diffuse hyperinsulinism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017184 MONDO:0015624 True autosomal dominant hyperinsulinism due to SUR1 deficiency diazoxide-sensitive diffuse hyperinsulinism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017185 MONDO:0015624 True autosomal dominant hyperinsulinism due to Kir6.2 deficiency diazoxide-sensitive diffuse hyperinsulinism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017186 MONDO:0019010 True diazoxide-resistant hyperinsulinism congenital isolated hyperinsulinism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017187 MONDO:0019265 True diazoxide-resistant focal hyperinsulinism due to SUR1 deficiency diazoxide-resistant focal hyperinsulinism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017188 MONDO:0019265 True diazoxide-resistant focal hyperinsulinism due to Kir6.2 deficiency diazoxide-resistant focal hyperinsulinism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017189 MONDO:0017182 True adult-onset non-insulinoma persistent hyperinsulinemic hypoglycemia familial hyperinsulinism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017194 MONDO:0005516 True Blount disease osteochondrodysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0017194 MONDO:0019698 True Blount disease bent bone dysplasia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017195 MONDO:0002254 True Bruck syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0017195 MONDO:0018230 True Bruck syndrome skeletal dysplasia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017197 MONDO:0019289 True osteopathia striata-pigmentary dermopathy-white forelock syndrome hyperpigmentation of the skin UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017198 MONDO:0018230 True osteopetrosis skeletal dysplasia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017202 MONDO:0004863 True acute endophthalmitis purulent endophthalmitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0017203 MONDO:0004863 True chronic endophthalmitis purulent endophthalmitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0017205 MONDO:0017207 True primary oculocerebral lymphoma primary organ-specific lymphoma UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017207 MONDO:0005062 True primary organ-specific lymphoma lymphoma UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017209 MONDO:0001280 True infectious posterior uveitis choroiditis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017210 MONDO:0004773 True infectious anterior uveitis iridocyclitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0017211 MONDO:0017255 True infectious panuveitis panuveitis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017212 MONDO:0001280 True paraneoplastic uveitis choroiditis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017214 MONDO:0019215 True vitamin B12-responsive methylmalonic acidemia classic organic aciduria UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017214 MONDO:0019220 True vitamin B12-responsive methylmalonic acidemia inborn disorder of cobalamin metabolism and transport UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017215 MONDO:0002123 True calciphylaxis calcinosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0017216 MONDO:0017215 True calciphylaxis cutis calciphylaxis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017216 MONDO:0019293 True calciphylaxis cutis skin vascular disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017217 MONDO:0017215 True visceral calciphylaxis calciphylaxis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017220 MONDO:0016060 True laryngotracheoesophageal cleft type 0 laryngotracheoesophageal cleft UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017221 MONDO:0010714 True Pelizaeus-Merzbacher disease, connatal form Pelizeaus-Merzbacher spectrum disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017222 MONDO:0010714 True Pelizaeus-Merzbacher disease, classic form Pelizeaus-Merzbacher spectrum disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017223 MONDO:0010714 True Pelizaeus-Merzbacher disease, transitional form Pelizeaus-Merzbacher spectrum disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017224 MONDO:0010714 True Pelizaeus-Merzbacher disease in female carriers Pelizeaus-Merzbacher spectrum disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017225 MONDO:0010714 True null syndrome Pelizeaus-Merzbacher spectrum disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017226 MONDO:0019046 True Pelizaeus-Merzbacher-like disease leukodystrophy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017227 MONDO:0015175 True autoimmune pancreatitis type 1 autoimmune pancreatitis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017228 MONDO:0015175 True autoimmune pancreatitis type 2 autoimmune pancreatitis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017229 MONDO:0022174 True distal monosomy 12p chromosome 12p deletion UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017230 MONDO:0020088 True autosomal semi-dominant severe lipodystrophic laminopathy familial partial lipodystrophy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017231 MONDO:0019142 True erythropoietic uroporphyria associated with myeloid malignancy inherited porphyria UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017236 MONDO:0002462 True rapidly progressive glomerulonephritis glomerulonephritis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0017238 MONDO:0019050 True hemoglobinopathy Toms River inherited hemoglobinopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017242 MONDO:0019293 True cutaneous collagenous vasculopathy skin vascular disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017243 MONDO:0019315 True bullous diffuse cutaneous mastocytosis diffuse cutaneous mastocytosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017244 MONDO:0019315 True pseudoxanthomatous diffuse cutaneous mastocytosis diffuse cutaneous mastocytosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017245 MONDO:0017843 True intralobar congenital pulmonary sequestration congenital pulmonary sequestration UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017246 MONDO:0017843 True extralobar congenital pulmonary sequestration congenital pulmonary sequestration UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017247 MONDO:0017843 True communicating congenital bronchopulmonary-foregut malformation congenital pulmonary sequestration UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017248 MONDO:0016580 True congenital pulmonary airway malformation type 0 congenital pulmonary airway malformation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017249 MONDO:0016580 True congenital pulmonary airway malformation type 1 congenital pulmonary airway malformation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017250 MONDO:0016580 True congenital pulmonary airway malformation type 2 congenital pulmonary airway malformation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017251 MONDO:0016580 True congenital pulmonary airway malformation type 3 congenital pulmonary airway malformation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017252 MONDO:0016580 True congenital pulmonary airway malformation type 4 congenital pulmonary airway malformation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017255 MONDO:0020283 True panuveitis uveitis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0017257 MONDO:0020283 True idiopathic posterior uveitis uveitis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017258 MONDO:0017255 True idiopathic panuveitis panuveitis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017264 MONDO:0017269 True syndromic recessive X-linked ichthyosis X-linked ichthyosis syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017265 MONDO:0015947 True autosomal recessive congenital ichthyosis inherited ichthyosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017266 MONDO:0015947 True keratinopathic ichthyosis inherited ichthyosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017267 MONDO:0017265 True self-healing collodion baby autosomal recessive congenital ichthyosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017268 MONDO:0017265 True acral self-healing collodion baby autosomal recessive congenital ichthyosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017275 MONDO:0015087 True spastic paraplegia-facial-cutaneous lesions syndrome autosomal dominant complex spastic paraplegia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017276 MONDO:0015547 True frontotemporal dementia hereditary dementia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017276 MONDO:0024237 True frontotemporal dementia inherited neurodegenerative disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017278 MONDO:0000569 True autoimmune polyendocrinopathy autoimmune disorder of endocrine system UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0017278 MONDO:0015126 True autoimmune polyendocrinopathy polyendocrinopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017279 MONDO:0005180 True young-onset Parkinson disease Parkinson disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0017282 MONDO:0005738 True alveolar echinococcosis echinococcosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0017283 MONDO:0016892 True DeSanto-Shinawi Syndrome due to 10p11.21p12.31 microdeletion partial deletion of the short arm of chromosome 10 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017283 MONDO:0018760 True DeSanto-Shinawi Syndrome due to 10p11.21p12.31 microdeletion DeSanto-Shinawi syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017284 MONDO:0015159 True Xp22.13p22.2 duplication syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017284 MONDO:0017009 True Xp22.13p22.2 duplication syndrome partial duplication of the short arm of chromosome X UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017286 MONDO:0002254 True tempi syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017287 MONDO:0007179 True IgG4-related disease autoimmune disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0017289 MONDO:0011014 True fetal lung interstitial tumor pleuropulmonary blastoma UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017292 MONDO:0005061 True well-differentiated fetal adenocarcinoma of the lung lung adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017292 MONDO:0005606 True well-differentiated fetal adenocarcinoma of the lung tubular adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017314 MONDO:0020066 True Ehlers-Danlos syndrome, vascular type Ehlers-Danlos syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017319 MONDO:0003664 True hereditary elliptocytosis hemolytic anemia SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0017323 MONDO:0005520 True hypocalcemic rickets rickets UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017295 MONDO:0018459 True glycerol kinase deficiency, juvenile form isolated glycerol kinase deficiency UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017296 MONDO:0018459 True glycerol kinase deficiency, adult form isolated glycerol kinase deficiency UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017300 MONDO:0019512 True congenital pericardium anomaly congenital heart malformation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017303 MONDO:0016139 True qualitative or quantitative defects of tropomyosin qualitative or quantitative protein defects in neuromuscular diseases UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017304 MONDO:0018134 True ocular albinism disorder of melanin metabolism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017305 MONDO:0019290 True syndromic oculocutaneous albinism hypopigmentation of the skin UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017306 MONDO:0019189 True disorder of phenylalanine metabolism inborn disorder of amino acid and other organic acid metabolism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017306 MONDO:0019235 True disorder of phenylalanine metabolism inborn disorder of phenylalanine and tyrosine metabolism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017307 MONDO:0019189 True disorder of tyrosine metabolism inborn disorder of amino acid and other organic acid metabolism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017307 MONDO:0019235 True disorder of tyrosine metabolism inborn disorder of phenylalanine and tyrosine metabolism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017312 MONDO:0006025 True Perrault syndrome autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0017312 MONDO:0016387 True Perrault syndrome mitochondrial oxidative phosphorylation disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017312 MONDO:0019852 True Perrault syndrome inherited primary ovarian failure UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0017313 MONDO:0017758 True disorder of folate metabolism and transport disorder of vitamin and non-protein cofactor absorption and transport UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017314 MONDO:0020066 True Ehlers-Danlos syndrome, vascular type Ehlers-Danlos syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017315 MONDO:0015159 True short stature-webbed neck-heart disease syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017317 MONDO:0019755 True phakomatosis pigmentokeratotica developmental defect during embryogenesis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017318 MONDO:0019289 True phakomatosis pigmentovascularis hyperpigmentation of the skin UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017318 MONDO:0019755 True phakomatosis pigmentovascularis developmental defect during embryogenesis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017319 MONDO:0003664 True hereditary elliptocytosis hemolytic anemia SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0017320 MONDO:0019225 True phosphoenolpyruvate carboxykinase deficiency disorder of gluconeogenesis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017321 MONDO:0019287 True pili torti-onychodysplasia syndrome ectodermal dysplasia syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017323 MONDO:0017322 True hypocalcemic rickets disorders of vitamin D metabolism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017324 MONDO:0000044 True autosomal recessive hypophosphatemic rickets hereditary hypophosphatemic rickets UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017324 MONDO:0006025 True autosomal recessive hypophosphatemic rickets autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0017325 MONDO:0020072 True early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation childhood-onset epilepsy syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017327 MONDO:0018171 True primary non-gestational choriocarcinoma of ovary malignant germ cell tumor of ovary UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017328 MONDO:0005440 True non-central nervous system-localized embryonal carcinoma embryonal carcinoma UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017332 MONDO:0019751 True pyoderma gangrenosum-acne-suppurative hidradenitis syndrome autoinflammatory syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017334 MONDO:0016877 True 12q15q21.1 microdeletion syndrome partial deletion of the long arm of chromosome 12 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017335 MONDO:0015159 True microtriplication 11q24.1 multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017335 MONDO:0022173 True microtriplication 11q24.1 chromosome 11q trisomy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017337 MONDO:0015129 True inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency chronic primary adrenal insufficiency UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017338 MONDO:0018424 True fatal multiple mitochondrial dysfunctions syndrome inherited lipoic acid biosynthesis defect UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017339 MONDO:0017265 True exfoliative ichthyosis autosomal recessive congenital ichthyosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017340 MONDO:0005586 True juvenile nasopharyngeal angiofibroma head and neck neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017340 MONDO:0024623 True juvenile nasopharyngeal angiofibroma otorhinolaryngologic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017346 MONDO:0018905 True Epstein-Barr virus-positive diffuse large B-cell lymphoma of the elderly diffuse large B-cell lymphoma UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017347 MONDO:0018905 True plasmablastic lymphoma diffuse large B-cell lymphoma UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0017342 MONDO:0017341 True Epstein-Barr virus-related tumor virus associated tumor UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017343 MONDO:0017342 True Epstein-Barr virus-associated malignant lymphoproliferative disorder Epstein-Barr virus-related tumor UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017344 MONDO:0017342 True Epstein-Barr virus-associated carcinoma Epstein-Barr virus-related tumor UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017345 MONDO:0017342 True Epstein-Barr virus-associated mesenchymal tumor Epstein-Barr virus-related tumor UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017346 MONDO:0017343 True Epstein-Barr virus-positive diffuse large B-cell lymphoma of the elderly Epstein-Barr virus-associated malignant lymphoproliferative disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017346 MONDO:0018905 True Epstein-Barr virus-positive diffuse large B-cell lymphoma of the elderly diffuse large B-cell lymphoma UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017347 MONDO:0017343 True plasmablastic lymphoma Epstein-Barr virus-associated malignant lymphoproliferative disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017347 MONDO:0018905 True plasmablastic lymphoma diffuse large B-cell lymphoma UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0017348 MONDO:0017344 True lymphoepithelial-like carcinoma Epstein-Barr virus-associated carcinoma UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017349 MONDO:0002604 True myopericytoma pericytic neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017361 MONDO:0004656 True congenital rubella syndrome rubella UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017372 MONDO:0002254 True congenital varicella syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017376 MONDO:0005578 True reactive arthritis arthritic joint disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0017384 MONDO:0002406 True acute generalized exanthematous pustulosis dermatitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017386 MONDO:0005212 True pleomorphic rhabdomyosarcoma rhabdomyosarcoma UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0017387 MONDO:0018078 True epithelioid sarcoma soft tissue sarcoma UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017409 MONDO:0005132 True fetal cytomegalovirus syndrome cytomegalovirus infection UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017435 MONDO:0002254 True popliteal pterygium syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0017349 MONDO:0017345 True myopericytoma Epstein-Barr virus-associated mesenchymal tumor UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017350 MONDO:0019189 True inborn disorder of tryptophan metabolism inborn disorder of amino acid and other organic acid metabolism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017352 MONDO:0019189 True disorder of glutamine metabolism inborn disorder of amino acid and other organic acid metabolism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017353 MONDO:0011612 True neonatal glycine encephalopathy glycine encephalopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017354 MONDO:0011612 True infantile glycine encephalopathy glycine encephalopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017355 MONDO:0019230 True inborn disorder of proline metabolism inborn disorder of ornithine or proline metabolism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017356 MONDO:0019230 True inborn disorder of ornithine metabolism inborn disorder of ornithine or proline metabolism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017359 MONDO:0019215 True 3-methylglutaconic aciduria classic organic aciduria UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017360 MONDO:0009612 True vitamin B12-unresponsive methylmalonic acidemia type mut0 methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017361 MONDO:0016511 True congenital rubella syndrome infectious embryofetopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017362 MONDO:0015923 True neuralgic amyotrophy acquired peripheral neuropathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017363 MONDO:0015927 True idiopathic chronic eosinophilic pneumonia idiopathic eosinophilic pneumonia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017364 MONDO:0015923 True POEMS syndrome acquired peripheral neuropathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017372 MONDO:0016511 True congenital varicella syndrome infectious embryofetopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017373 MONDO:0020129 True poliomyelitis acquired motor neuron disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017375 MONDO:0016511 True congenital enterovirus infection infectious embryofetopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017376 MONDO:0005578 True reactive arthritis arthritic joint disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0017377 MONDO:0015159 True preaxial polydactyly-colobomata-intellectual disability syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017380 MONDO:0015185 True juvenile polyposis syndrome intestinal polyposis syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017384 MONDO:0017396 True acute generalized exanthematous pustulosis toxic dermatosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017385 MONDO:0020070 True malignant migrating partial seizures of infancy neonatal epilepsy syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017386 MONDO:0005212 True pleomorphic rhabdomyosarcoma rhabdomyosarcoma UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0017387 MONDO:0018078 True epithelioid sarcoma soft tissue sarcoma UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017389 MONDO:0009861 True tetrahydrobiopterin-responsive hyperphenylalaninemia/phenylketonuria phenylketonuria UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017391 MONDO:0020212 True Grayson-Wilbrandt corneal dystrophy superficial corneal dystrophy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017392 MONDO:0020213 True pre-descemet corneal dystrophy stromal corneal dystrophy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017393 MONDO:0015159 True blepharophimosis - intellectual disability syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017395 MONDO:0017396 True fixed pigmented erythema toxic dermatosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017398 MONDO:0003847 True 3MC syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0017398 MONDO:0015159 True 3MC syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017401 MONDO:0016342 True familial isolated arrhythmogenic ventricular dysplasia, left dominant form familial isolated arrhythmogenic right ventricular dysplasia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017402 MONDO:0016342 True familial isolated arrhythmogenic ventricular dysplasia, biventricular form familial isolated arrhythmogenic right ventricular dysplasia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017403 MONDO:0016342 True familial isolated arrhythmogenic ventricular dysplasia, right dominant form familial isolated arrhythmogenic right ventricular dysplasia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017405 MONDO:0016883 True 1p21.3 microdeletion syndrome partial deletion of the short arm of chromosome 1 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017406 MONDO:0015770 True hypogonadotropic hypogonadism-severe microcephaly-sensorineural hearing loss-dysmorphism syndrome congenital hypogonadotropic hypogonadism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017407 MONDO:0018762 True deficiency in anterior pituitary function - variable immunodeficiency syndrome non-acquired combined pituitary hormone deficiency UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017409 MONDO:0016511 True fetal cytomegalovirus syndrome infectious embryofetopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017410 MONDO:0017103 True porencephaly encephaloclastic disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017411 MONDO:0019268 True neonatal inflammatory skin and bowel disease epidermal disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017411 MONDO:0019751 True neonatal inflammatory skin and bowel disease autoinflammatory syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017415 MONDO:0015225 True multiple pterygium syndrome arthrogryposis syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017416 MONDO:0017373 True postpoliomyelitis syndrome poliomyelitis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0017419 MONDO:0018234 True non-syndromic amelia dysostosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017419 MONDO:0019713 True non-syndromic amelia non-syndromic limb reduction defect UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017435 MONDO:0002254 True popliteal pterygium syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0017435 MONDO:0015225 True popliteal pterygium syndrome arthrogryposis syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017436 MONDO:0003847 True lethal congenital contracture syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0017436 MONDO:0015225 True lethal congenital contracture syndrome arthrogryposis syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017437 MONDO:0017419 True amelia of upper limb non-syndromic amelia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017438 MONDO:0017419 True amelia of lower limb non-syndromic amelia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017439 MONDO:0017419 True tetra-amelia non-syndromic amelia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017440 MONDO:0019713 True humeral agenesis/hypoplasia non-syndromic limb reduction defect UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017441 MONDO:0018234 True congenital absence of upper arm and forearm with hand present dysostosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017442 MONDO:0018234 True congenital absence of thigh and lower leg with foot present dysostosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017443 MONDO:0018234 True congenital absence of both forearm and hand dysostosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017444 MONDO:0018234 True congenital absence of both lower leg and foot dysostosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017445 MONDO:0018234 True acheiria dysostosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017446 MONDO:0018234 True apodia dysostosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017453 MONDO:0016511 True fetal parvovirus syndrome infectious embryofetopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017455 MONDO:0018234 True hyperphalangy dysostosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017456 MONDO:0011348 True central polydactyly of fingers non-syndromic polydactyly UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017460 MONDO:0019530 True syndactyly type 6 non-syndromic syndactyly UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017462 MONDO:0015525 True congenital pseudoarthrosis of the tibia congenital pseudoarthrosis of the limbs UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017463 MONDO:0015525 True congenital pseudoarthrosis of the femur congenital pseudoarthrosis of the limbs UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017464 MONDO:0015525 True congenital pseudoarthrosis of the fibula congenital pseudoarthrosis of the limbs UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017465 MONDO:0015525 True congenital pseudoarthrosis of the radius congenital pseudoarthrosis of the limbs UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017466 MONDO:0015525 True congenital pseudoarthrosis of the ulna congenital pseudoarthrosis of the limbs UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017497 MONDO:0017442 True congenital absence of thigh and lower leg with foot present, bilateral congenital absence of thigh and lower leg with foot present SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017499 MONDO:0017443 True congenital absence of both forearm and hand, bilateral congenital absence of both forearm and hand SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017501 MONDO:0017444 True congenital absence of both lower leg and foot, bilateral congenital absence of both lower leg and foot SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017571 MONDO:0003847 True Proteus-like syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017571 MONDO:0017623 True Proteus-like syndrome PTEN hamartoma tumor syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017572 MONDO:0006009 True tick-borne encephalitis viral encephalitis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0017576 MONDO:0002145 True 46,XX disorder of sex development disorder of sexual differentiation UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017582 MONDO:0002109 True pituitary adenocarcinoma pituitary cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0017582 MONDO:0004970 True pituitary adenocarcinoma adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0017590 MONDO:0000919 True carcinoma of the ampulla of vater ampulla of vater cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0017594 MONDO:0015759 True indolent B-cell non-Hodgkin lymphoma B-cell non-Hodgkin lymphoma UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017595 MONDO:0015759 True aggressive B-cell non-Hodgkin lymphoma B-cell non-Hodgkin lymphoma UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017596 MONDO:0018905 True diffuse large B-cell lymphoma of the central nervous system diffuse large B-cell lymphoma UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0017543 MONDO:0008512 True zygodactyly type 2 syndactyly type 1 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017544 MONDO:0008512 True zygodactyly type 3 syndactyly type 1 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017545 MONDO:0008512 True zygodactyly type 4 syndactyly type 1 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017546 MONDO:0008652 True congenital vertical talus, unilateral congenital vertical talus UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017547 MONDO:0008652 True congenital vertical talus, bilateral congenital vertical talus UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017552 MONDO:0019782 True humero-ulnar synostosis, unilateral humero-ulnar synostosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017553 MONDO:0019782 True humero-ulnar synostosis, bilateral humero-ulnar synostosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017554 MONDO:0017985 True radio-ulnar synostosis, unilateral congenital radioulnar synostosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017555 MONDO:0017985 True radio-ulnar synostosis, bilateral congenital radioulnar synostosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017558 MONDO:0017469 True congenital elbow dislocation, unilateral congenital elbow dislocation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017559 MONDO:0017469 True congenital elbow dislocation, bilateral congenital elbow dislocation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017560 MONDO:0017470 True congenital genu recurvatum congenital knee dislocation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017561 MONDO:0017470 True congenital genu flexum congenital knee dislocation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017564 MONDO:0017474 True macrodactyly of fingers, unilateral macrodactyly of fingers UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017565 MONDO:0017474 True macrodactyly of fingers, bilateral macrodactyly of fingers UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017566 MONDO:0017475 True macrodactyly of toes, unilateral macrodactyly of toes UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017567 MONDO:0017475 True macrodactyly of toes, bilateral macrodactyly of toes UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017568 MONDO:0018234 True Prata-Liberal-Goncalves syndrome dysostosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017569 MONDO:0006025 True de Barsy syndrome autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0017569 MONDO:0019303 True de Barsy syndrome premature aging syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017570 MONDO:0006025 True leukocyte adhesion deficiency autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0017570 MONDO:0015978 True leukocyte adhesion deficiency functional neutrophil defect UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017571 MONDO:0017623 True Proteus-like syndrome PTEN hamartoma tumor syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017572 MONDO:0006009 True tick-borne encephalitis viral encephalitis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0017573 MONDO:0017576 True 46,XX disorder of sex development-anorectal anomalies syndrome 46,XX disorder of sex development UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017575 MONDO:0009637 True mitochondrial neurogastrointestinal encephalomyopathy inborn mitochondrial myopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017575 MONDO:0019238 True mitochondrial neurogastrointestinal encephalomyopathy inborn disorder of pyrimidine metabolism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017575 MONDO:0020127 True mitochondrial neurogastrointestinal encephalomyopathy hereditary peripheral neuropathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017576 MONDO:0002145 True 46,XX disorder of sex development disorder of sexual differentiation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017578 MONDO:0017758 True disorder of thiamine metabolism and transport disorder of vitamin and non-protein cofactor absorption and transport UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017579 MONDO:0002254 True Baraitser-Winter cerebrofrontofacial syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0017579 MONDO:0015159 True Baraitser-Winter cerebrofrontofacial syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017579 MONDO:0018838 True Baraitser-Winter cerebrofrontofacial syndrome lissencephaly spectrum disorders UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS +MONDO:0017580 MONDO:0015159 True 11p15.4 microduplication syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017580 MONDO:0016948 True 11p15.4 microduplication syndrome partial duplication of the short arm of chromosome 11 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017580 MONDO:0019716 True 11p15.4 microduplication syndrome overgrowth syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017582 MONDO:0002109 True pituitary adenocarcinoma pituitary cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0017585 MONDO:0016752 True painful orbital and systemic neurofibromas-marfanoid habitus syndrome benign peripheral nerve sheath tumor UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017586 MONDO:0017588 True onychocytic matricoma nail tumor UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017587 MONDO:0017588 True onychomatricoma nail tumor UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017590 MONDO:0000919 True carcinoma of the ampulla of vater ampulla of vater cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0017591 MONDO:0002429 True combined pulmonary fibrosis-emphysema syndrome idiopathic interstitial pneumonia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017594 MONDO:0015759 True indolent B-cell non-Hodgkin lymphoma B-cell non-Hodgkin lymphoma UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017595 MONDO:0015759 True aggressive B-cell non-Hodgkin lymphoma B-cell non-Hodgkin lymphoma UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017596 MONDO:0018905 True diffuse large B-cell lymphoma of the central nervous system diffuse large B-cell lymphoma UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0017596 MONDO:0044887 True diffuse large B-cell lymphoma of the central nervous system central nervous system non-hodgkin lymphoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017597 MONDO:0018905 True T-cell/histiocyte rich large B cell lymphoma diffuse large B-cell lymphoma UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017597 MONDO:0018905 True T-cell/histiocyte rich large B cell lymphoma diffuse large B-cell lymphoma UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017598 MONDO:0000607 True primary cutaneous anaplastic large cell lymphoma primary cutaneous T-cell non-Hodgkin lymphoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017598 MONDO:0018897 True primary cutaneous anaplastic large cell lymphoma primary cutaneous CD30+ T-cell lymphoproliferative disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017598 MONDO:0020325 True primary cutaneous anaplastic large cell lymphoma anaplastic large cell lymphoma UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017598 MONDO:0020633 True primary cutaneous anaplastic large cell lymphoma anaplastic cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017602 MONDO:0020325 True ALK-positive anaplastic large cell lymphoma anaplastic large cell lymphoma UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017603 MONDO:0020325 True ALK-negative anaplastic large cell lymphoma anaplastic large cell lymphoma UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017604 MONDO:0017594 True marginal zone lymphoma indolent B-cell non-Hodgkin lymphoma UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017599 MONDO:0017604 True splenic diffuse red pulp small B-cell lymphoma marginal zone lymphoma UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017600 MONDO:0018935 True hairy cell leukemia variant hairy cell leukemia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0017601 MONDO:0017343 True diffuse large B-cell lymphoma with chronic inflammation Epstein-Barr virus-associated malignant lymphoproliferative disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017601 MONDO:0018905 True diffuse large B-cell lymphoma with chronic inflammation diffuse large B-cell lymphoma UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017602 MONDO:0020325 True ALK-positive anaplastic large cell lymphoma anaplastic large cell lymphoma UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017603 MONDO:0020325 True ALK-negative anaplastic large cell lymphoma anaplastic large cell lymphoma UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017604 MONDO:0017594 True marginal zone lymphoma indolent B-cell non-Hodgkin lymphoma UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017607 MONDO:0018075 True caudal regression sequence neural tube defect UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0017610 MONDO:0019276 True epidermolysis bullosa simplex inherited epidermolysis bullosa UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017611 MONDO:0002720 True pituitary tumor sella turcica neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017611 MONDO:0003381 True pituitary tumor pituitary gland disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017648 MONDO:0005071 True Sydenham chorea nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017771 MONDO:0002254 True Mayer-Rokitansky-Kuster-Hauser syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0017773 MONDO:0005066 True hypoalphalipoproteinemia metabolic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017612 MONDO:0019276 True junctional epidermolysis bullosa inherited epidermolysis bullosa UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017614 MONDO:0015159 True X-linked intellectual disability-hypogonadism-ichthyosis-obesity-short stature syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017615 MONDO:0000413 True benign familial infantile epilepsy infancy electroclinical syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0017615 MONDO:0015642 True benign familial infantile epilepsy benign partial infantile seizures UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017617 MONDO:0017769 True acquired adult-onset immunodeficiency acquired immunodeficiency UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017623 MONDO:0019755 True PTEN hamartoma tumor syndrome developmental defect during embryogenesis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017630 MONDO:0017140 True X-linked complicated spastic paraplegia type 1 L1 syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017634 MONDO:0006651 True non-infectious anterior uveitis anterior uveitis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017659 MONDO:0017658 True sporadic hyperekplexia hyperekplexia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017666 MONDO:0019272 True diffuse palmoplantar keratoderma hereditary palmoplantar keratoderma UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017668 MONDO:0015159 True intellectual disability-short stature-hypertelorism syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017672 MONDO:0019272 True focal palmoplantar keratoderma hereditary palmoplantar keratoderma UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017675 MONDO:0019272 True punctate palmoplantar keratoderma hereditary palmoplantar keratoderma UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017677 MONDO:0017675 True focal acral hyperkeratosis punctate palmoplantar keratoderma UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017681 MONDO:0019270 True erythrokeratoderma variabilis progressiva erythrokeratoderma UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017682 MONDO:0015159 True intellectual disability-polydactyly-uncombable hair syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017683 MONDO:0018964 True methylcobalamin deficiency type cblDv1 homocystinuria without methylmalonic aciduria UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017684 MONDO:0019189 True disorder of beta and omega amino acid metabolism inborn disorder of amino acid and other organic acid metabolism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017685 MONDO:0017214 True vitamin B12-responsive methylmalonic acidemia, type cblDv2 vitamin B12-responsive methylmalonic acidemia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017686 MONDO:0019052 True inborn aminoacylase deficiency inborn errors of metabolism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017687 MONDO:0019216 True disorder of neutral amino acid transport inborn disorder of amino acid transport UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017688 MONDO:0019214 True disorder of glycolysis inborn carbohydrate metabolic disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017689 MONDO:0019214 True disorder of fructose metabolism inborn carbohydrate metabolic disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017690 MONDO:0019214 True disorder of galactose metabolism inborn carbohydrate metabolic disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017691 MONDO:0009257 True erythrocyte galactose epimerase deficiency galactose epimerase deficiency UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017692 MONDO:0009257 True generalized galactose epimerase deficiency galactose epimerase deficiency UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017694 MONDO:0009290 True glycogen storage disease due to acid maltase deficiency, infantile onset glycogen storage disease II UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017695 MONDO:0009292 True glycogen storage disease due to glycogen branching enzyme deficiency, progressive hepatic form glycogen storage disease due to glycogen branching enzyme deficiency UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017696 MONDO:0009292 True glycogen storage disease due to glycogen branching enzyme deficiency, non progressive hepatic form glycogen storage disease due to glycogen branching enzyme deficiency UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017697 MONDO:0009292 True glycogen storage disease due to glycogen branching enzyme deficiency, fatal perinatal neuromuscular form glycogen storage disease due to glycogen branching enzyme deficiency UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017698 MONDO:0009292 True glycogen storage disease due to glycogen branching enzyme deficiency, congenital neuromuscular form glycogen storage disease due to glycogen branching enzyme deficiency UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017699 MONDO:0009292 True glycogen storage disease due to glycogen branching enzyme deficiency, childhood combined hepatic and myopathic form glycogen storage disease due to glycogen branching enzyme deficiency UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017700 MONDO:0009292 True glycogen storage disease due to glycogen branching enzyme deficiency, childhood neuromuscular form glycogen storage disease due to glycogen branching enzyme deficiency UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017701 MONDO:0009292 True glycogen storage disease due to glycogen branching enzyme deficiency, adult neuromuscular form glycogen storage disease due to glycogen branching enzyme deficiency UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017704 MONDO:0015653 True familial partial epilepsy monogenic epilepsy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017704 MONDO:0020072 True familial partial epilepsy childhood-onset epilepsy syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017704 MONDO:0020073 True familial partial epilepsy adolescent-onset epilepsy syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017705 MONDO:0020295 True congenital pulmonary venous return anomaly congenital pulmonary veins anomaly UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017706 MONDO:0019214 True disorder of carbohydrate transmembrane transport and absorption inborn carbohydrate metabolic disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017708 MONDO:0017953 True mevalonate kinase deficiency hereditary periodic fever syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017708 MONDO:0019240 True mevalonate kinase deficiency sterol biosynthesis disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017713 MONDO:0019223 True disorder of fatty acid oxidation and ketogenesis disorder of fatty acid and ketone body metabolism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017714 MONDO:0017713 True acyl-CoA dehydrogenase deficiency disorder of fatty acid oxidation and ketogenesis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017715 MONDO:0017713 True 3-hydroxyacyl-CoA dehydrogenase deficiency disorder of fatty acid oxidation and ketogenesis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017716 MONDO:0019223 True disorder of carnitine cycle and carnitine transport disorder of fatty acid and ketone body metabolism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017719 MONDO:0019255 True gangliosidosis sphingolipidosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0017720 MONDO:0017719 True GM2 gangliosidosis gangliosidosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0017720 MONDO:0024237 True GM2 gangliosidosis inherited neurodegenerative disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017721 MONDO:0010006 True Sandhoff disease, infantile form Sandhoff disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017722 MONDO:0010006 True Sandhoff disease, juvenile form Sandhoff disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017723 MONDO:0010006 True Sandhoff disease, adult form Sandhoff disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017724 MONDO:0010100 True Tay-Sachs disease, b variant, infantile form Tay-Sachs disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017725 MONDO:0010100 True Tay-Sachs disease, b variant, juvenile form Tay-Sachs disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017726 MONDO:0010100 True Tay-Sachs disease, B variant, adult form Tay-Sachs disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017727 MONDO:0020292 True fixed subaortic stenosis congenital anomaly of the great arteries UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017731 MONDO:0002561 True glycoproteinosis lysosomal storage disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017732 MONDO:0009561 True alpha-mannosidosis, infantile form alpha-mannosidosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017733 MONDO:0009561 True alpha-mannosidosis, adult form alpha-mannosidosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017734 MONDO:0019251 True sialidosis oligosaccharidosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017736 MONDO:0002561 True disorder of sialic acid metabolism lysosomal storage disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017737 MONDO:0019366 True intermediate severe Salla disease free sialic acid storage disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017738 MONDO:0002561 True lysosomal glycogen storage disease lysosomal storage disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017739 MONDO:0019052 True disorder of lysosomal-related organelles inborn errors of metabolism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017740 MONDO:0015286 True disorder of protein N-glycosylation congenital disorder of glycosylation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017741 MONDO:0015286 True disorder of protein O-glycosylation congenital disorder of glycosylation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017747 MONDO:0017741 True disorder of fucoglycosan synthesis disorder of protein O-glycosylation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017748 MONDO:0015286 True inborn disorder of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation congenital disorder of glycosylation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017749 MONDO:0015286 True disorder of multiple glycosylation congenital disorder of glycosylation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017750 MONDO:0017749 True defect in conserved oligomeric Golgi complex disorder of multiple glycosylation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017752 MONDO:0017749 True defect in V-ATPase disorder of multiple glycosylation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017754 MONDO:0019052 True inborn disorder of porphyrin metabolism inborn errors of metabolism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017755 MONDO:0017754 True inborn disorder of bilirubin metabolism inborn disorder of porphyrin metabolism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017757 MONDO:0019052 True disorder of metabolite absorption and transport inborn errors of metabolism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017758 MONDO:0017757 True disorder of vitamin and non-protein cofactor absorption and transport disorder of metabolite absorption and transport UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017759 MONDO:0019219 True disorder of catecholamine synthesis inborn disorder of neurotransmitter metabolism and transport UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017761 MONDO:0017757 True disorder of mineral absorption and transport disorder of metabolite absorption and transport UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017762 MONDO:0017761 True disorder of copper metabolism disorder of mineral absorption and transport UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017763 MONDO:0017761 True disorder of iron metabolism and transport disorder of mineral absorption and transport UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017764 MONDO:0017761 True disorder of zinc metabolism disorder of mineral absorption and transport UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017765 MONDO:0017761 True disorder of magnesium transport disorder of mineral absorption and transport UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017766 MONDO:0017761 True disorder of manganese transport disorder of mineral absorption and transport UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017768 MONDO:0100036 True reflex epilepsy variable age onset epilepsy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0017771 MONDO:0002254 True Mayer-Rokitansky-Kuster-Hauser syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0017771 MONDO:0015830 True Mayer-Rokitansky-Kuster-Hauser syndrome partial bilateral aplasia of the mullerian ducts UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017774 MONDO:0001822 True hypobetalipoproteinemia hypolipoproteinemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0017775 MONDO:0000314 True melioidosis primary bacterial infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0017776 MONDO:0000316 True nocardiosis opportunistic bacterial infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0017779 MONDO:0019251 True alpha-N-acetylgalactosaminidase deficiency oligosaccharidosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017780 MONDO:0015159 True 20p13 microdeletion syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017780 MONDO:0016898 True 20p13 microdeletion syndrome partial monosomy of the short arm of chromosome 20 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017781 MONDO:0022174 True 12p12.1 microdeletion syndrome chromosome 12p deletion UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017784 MONDO:0017344 True Epstein-Barr virus-associated gastric carcinoma Epstein-Barr virus-associated carcinoma UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017786 MONDO:0016953 True 2q23.1 microduplication syndrome partial duplication of the long arm of chromosome 2 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017788 MONDO:0015161 True contractures - webbed neck - micrognathia - hypoplastic nipples syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017790 MONDO:0018502 True gastric adenocarcinoma and proximal polyposis of the stomach hereditary gastric cancer UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017792 MONDO:0015159 True 7p22.1 microduplication syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017792 MONDO:0016944 True 7p22.1 microduplication syndrome partial duplication of the short arm of chromosome 7 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017793 MONDO:0019755 True marfanoid habitus-inguinal hernia-advanced bone age syndrome developmental defect during embryogenesis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017794 MONDO:0017010 True Xq12-q13.3 duplication syndrome partial duplication of the long arm of chromosome X UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017795 MONDO:0021192 True ameloblastoma odontogenic neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017799 MONDO:0021058 True Meigs syndrome neoplastic syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017807 MONDO:0021058 True growing teratoma syndrome neoplastic syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017814 MONDO:0002129 True primary bone lymphoma bone cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0017814 MONDO:0017207 True primary bone lymphoma primary organ-specific lymphoma UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017827 MONDO:0002547 True malignant peripheral nerve sheath tumor nerve sheath neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0017805 MONDO:0015159 True intellectual disability-hypotonia-brachycephaly-pyloric stenosis-cryptorchidism syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017806 MONDO:0015159 True 15q overgrowth syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017806 MONDO:0016965 True 15q overgrowth syndrome partial duplication of the long arm of chromosome 15 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017806 MONDO:0019716 True 15q overgrowth syndrome overgrowth syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017810 MONDO:0018590 True variant ABeta2M amyloidosis ABeta2M amyloidosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0017810 MONDO:0018634 True variant ABeta2M amyloidosis hereditary amyloidosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017811 MONDO:0016904 True severe neonatal hypotonia-seizures-encephalopathy syndrome due to 5q31.3 microdeletion partial deletion of the long arm of chromosome 5 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017812 MONDO:0019716 True segmental progressive overgrowth syndrome with fibroadipose hyperplasia overgrowth syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017813 MONDO:0003847 True van Maldergem syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0017813 MONDO:0015159 True van Maldergem syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017814 MONDO:0002129 True primary bone lymphoma bone cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0017814 MONDO:0017207 True primary bone lymphoma primary organ-specific lymphoma UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017815 MONDO:0017410 True acquired porencephaly porencephaly UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017816 MONDO:0019438 True primary systemic amyloidosis AL amyloidosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017817 MONDO:0019438 True primary localized amyloidosis AL amyloidosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017822 MONDO:0003429 True mixed functioning pituitary adenoma functioning pituitary gland adenoma UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017823 MONDO:0017822 True somatomammotropinoma mixed functioning pituitary adenoma UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017824 MONDO:0006373 True familial isolated pituitary adenoma pituitary gland adenoma UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017825 MONDO:0019613 True silent pituitary adenoma non-functioning pituitary adenoma UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017826 MONDO:0019613 True null pituitary adenoma non-functioning pituitary adenoma UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017827 MONDO:0002547 True malignant peripheral nerve sheath tumor nerve sheath neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0017827 MONDO:0016749 True malignant peripheral nerve sheath tumor tumor of cranial and spinal nerves UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017827 MONDO:0021089 True malignant peripheral nerve sheath tumor peripheral nervous system cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017843 MONDO:0005087 True congenital pulmonary sequestration respiratory system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017853 MONDO:0043905 True hypersensitivity pneumonitis pneumonitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017858 MONDO:0015667 True acute erythroid leukemia acute myeloid leukemia by FAB classification UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017829 MONDO:0008369 True autosomal dominant proximal renal tubular acidosis proximal renal tubular acidosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017829 MONDO:0015962 True autosomal dominant proximal renal tubular acidosis inherited renal tubular disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017830 MONDO:0010079 True severe Canavan disease Canavan disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017831 MONDO:0010079 True mild Canavan disease Canavan disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017833 MONDO:0015691 True primary hypereosinophilic syndrome hypereosinophilic syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017834 MONDO:0015691 True secondary hypereosinophilic syndrome hypereosinophilic syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017835 MONDO:0017834 True lymphocytic hypereosinophilic syndrome secondary hypereosinophilic syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017836 MONDO:0019270 True erythrokeratoderma en cocardes erythrokeratoderma UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017838 MONDO:0002185 True sclerosteosis hyperostosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0017839 MONDO:0008728 True classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, salt wasting form classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017840 MONDO:0008728 True classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, simple virilizing form classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017842 MONDO:0005308 True Senior-Loken syndrome ciliopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0017842 MONDO:0006025 True Senior-Loken syndrome autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0017844 MONDO:0000607 True Sezary syndrome primary cutaneous T-cell non-Hodgkin lymphoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0017845 MONDO:0100309 True spastic ataxia hereditary ataxia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0017846 MONDO:0017845 True autosomal dominant spastic ataxia spastic ataxia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017847 MONDO:0017845 True autosomal recessive spastic ataxia spastic ataxia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017851 MONDO:0017666 True erythrokeratodermia variabilis diffuse palmoplantar keratoderma UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017853 MONDO:0015925 True hypersensitivity pneumonitis interstitial lung disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0017855 MONDO:0015974 True T-B- severe combined immunodeficiency severe combined immunodeficiency UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017858 MONDO:0015667 True acute erythroid leukemia acute myeloid leukemia by FAB classification UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017858 MONDO:0020703 True acute erythroid leukemia erythroid neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017879 MONDO:0002254 True hantavirus pulmonary syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0017879 MONDO:0005780 True hantavirus pulmonary syndrome hantavirus infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017880 MONDO:0018087 True Rift valley fever viral hemorrhagic fever UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017865 MONDO:0020292 True congenital pulmonary valve stenosis congenital anomaly of the great arteries UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017866 MONDO:0017865 True subpulmonary stenosis congenital pulmonary valve stenosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017867 MONDO:0015159 True distal 17p13.1 microdeletion syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017869 MONDO:0018230 True chondroectodermal dysplasia with night blindness skeletal dysplasia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017869 MONDO:0019287 True chondroectodermal dysplasia with night blindness ectodermal dysplasia syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017870 MONDO:0017865 True supravalvular pulmonary stenosis congenital pulmonary valve stenosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017871 MONDO:0019801 True bilateral massive adrenal hemorrhage acute adrenal insufficiency UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017872 MONDO:0018087 True Lujo hemorrhagic fever viral hemorrhagic fever UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017875 MONDO:0018087 True Bolivian hemorrhagic fever viral hemorrhagic fever UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017876 MONDO:0018087 True Venezuelan hemorrhagic fever viral hemorrhagic fever UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017877 MONDO:0018087 True Brazilian hemorrhagic fever viral hemorrhagic fever UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017878 MONDO:0018087 True Chapare hemorrhagic fever viral hemorrhagic fever UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017879 MONDO:0005275 True hantavirus pulmonary syndrome lung disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0017879 MONDO:0018087 True hantavirus pulmonary syndrome viral hemorrhagic fever UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017880 MONDO:0018087 True Rift valley fever viral hemorrhagic fever UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017881 MONDO:0018087 True Kyasanur forest disease viral hemorrhagic fever UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017882 MONDO:0018087 True Omsk hemorrhagic fever viral hemorrhagic fever UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017884 MONDO:0002512 True papillary renal cell carcinoma papillary adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0017884 MONDO:0005549 True papillary renal cell carcinoma renal cell adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017885 MONDO:0005549 True chromophobe renal cell carcinoma renal cell adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017886 MONDO:0005086 True MIT family translocation renal cell carcinoma renal cell carcinoma UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017887 MONDO:0005549 True renal cell carcinoma associated with neuroblastoma renal cell adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017890 MONDO:0005549 True tubulocystic renal cell carcinoma renal cell adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017894 MONDO:0018874 True acute myeloid leukemia with CEBPA somatic mutations acute myeloid leukemia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0017892 MONDO:0015168 True autosomal recessive myogenic arthrogryposis multiplex congenita arthrogryposis multiplex congenita UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017892 MONDO:0019950 True autosomal recessive myogenic arthrogryposis multiplex congenita congenital muscular dystrophy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017893 MONDO:0018874 True inherited acute myeloid leukemia acute myeloid leukemia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017894 MONDO:0018874 True acute myeloid leukemia with CEBPA somatic mutations acute myeloid leukemia UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0017895 MONDO:0015447 True familial papillary or follicular thyroid carcinoma differentiated thyroid carcinoma UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017979 MONDO:0021058 True autoimmune lymphoproliferative syndrome neoplastic syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017987 MONDO:0002545 True syringomyelia spinal cord disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0017989 MONDO:0007263 True His bundle tachycardia cardiac rhythm disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017991 MONDO:0002254 True Takayasu arteritis syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0017991 MONDO:0043494 True Takayasu arteritis arteritis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017895 MONDO:0017896 True familial papillary or follicular thyroid carcinoma familial nonmedullary thyroid carcinoma UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017896 MONDO:0015075 True familial nonmedullary thyroid carcinoma thyroid gland carcinoma UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017900 MONDO:0019146 True autosomal recessive Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR2 deficiency inherited susceptibility to mycobacterial diseases UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017901 MONDO:0015979 True autosomal recessive Mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency hereditary predisposition to infections UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017902 MONDO:0015979 True autosomal recessive Mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR2 deficiency hereditary predisposition to infections UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017903 MONDO:0019146 True autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR2 deficiency inherited susceptibility to mycobacterial diseases UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017905 MONDO:0019146 True X-linked Mendelian susceptibility to mycobacterial diseases inherited susceptibility to mycobacterial diseases UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017906 MONDO:0015301 True amyloidosis cutis dyschromia primary cutaneous amyloidosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0017907 MONDO:0017207 True primary lymphoma of the conjunctiva primary organ-specific lymphoma UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017910 MONDO:0020102 True dehydrated hereditary stomatocytosis hereditary stomatocytosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017913 MONDO:0019064 True pure or complex hereditary spastic paraplegia hereditary spastic paraplegia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017917 MONDO:0015150 True maternally-inherited spastic paraplegia complex hereditary spastic paraplegia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017919 MONDO:0019356 True exstrophy-epispadias complex urogenital tract malformation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017920 MONDO:0015159 True deafness-genital anomalies-metacarpal and metatarsal synostosis syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017923 MONDO:0003847 True multiple synostoses syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0017923 MONDO:0019054 True multiple synostoses syndrome congenital limb malformation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017925 MONDO:0003778 True T-cell immunodeficiency with epidermodysplasia verruciformis inborn error of immunity UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017927 MONDO:0019698 True severe lateral tibial bowing with short stature bent bone dysplasia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017931 MONDO:0016112 True hereditary inclusion body myopathy type 4 hereditary inclusion-body myopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017932 MONDO:0015159 True muscular hypertrophy-hepatomegaly-polyhydramnios syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017933 MONDO:0016387 True hypertrophic cardiomyopathy and renal tubular disease due to mitochondrial DNA mutation mitochondrial oxidative phosphorylation disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017934 MONDO:0015159 True aphonia-deafness-retinal dystrophy-bifid halluces-intellectual disability syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017935 MONDO:0015624 True hyperinsulinism due to HNF1A deficiency diazoxide-sensitive diffuse hyperinsulinism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017936 MONDO:0019952 True benign Samaritan congenital myopathy congenital myopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017937 MONDO:0019548 True autosomal dominant intermediate Charcot-Marie-Tooth disease with neuropathic pain autosomal dominant intermediate Charcot-Marie-Tooth disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017939 MONDO:0018948 True classic multiminicore myopathy multiminicore myopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017940 MONDO:0018993 True autosomal dominant Charcot-Marie-Tooth disease type 2 due to KIF5A mutation Charcot-Marie-Tooth disease type 2 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017941 MONDO:0018093 True chikungunya arbovirus fever UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017944 MONDO:0000827 True invasive non-typhoidal salmonellosis salmonellosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017951 MONDO:0019287 True trichorhinophalangeal syndrome ectodermal dysplasia syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0017951 MONDO:0019695 True trichorhinophalangeal syndrome acromelic dysplasia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017953 MONDO:0015137 True hereditary periodic fever syndrome periodic fever syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017958 MONDO:0019751 True magic syndrome autoinflammatory syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017967 MONDO:0020040 True testicular agenesis 46,XY disorder of sex development UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017968 MONDO:0020040 True 46,XY ovotesticular disorder of sex development 46,XY disorder of sex development UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017972 MONDO:0008725 True classic congenital lipoid adrenal hyperplasia due to STAR deficency congenital lipoid adrenal hyperplasia due to STAR deficency UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017973 MONDO:0008725 True non-classic congenital lipoid adrenal hyperplasia due to STAR deficency congenital lipoid adrenal hyperplasia due to STAR deficency UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017975 MONDO:0002145 True sex chromosome disorder of sex development disorder of sexual differentiation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017979 MONDO:0002459 True autoimmune lymphoproliferative syndrome type IV hypersensitivity disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0017979 MONDO:0016537 True autoimmune lymphoproliferative syndrome lymphoproliferative syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0017980 MONDO:0018234 True syngnathia multiple anomalies dysostosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017987 MONDO:0002545 True syringomyelia spinal cord disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0017990 MONDO:0000992 True catecholaminergic polymorphic ventricular tachycardia heart conduction disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0017991 MONDO:0015236 True Takayasu arteritis aortic arch defects UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017992 MONDO:0019751 True autoinflammatory syndrome with pyogenic bacterial infection and amylopectinosis autoinflammatory syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017997 MONDO:0015159 True telecanthus-hypertelorism-strabismus-pes cavus syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017998 MONDO:0018307 True PLA2G6-associated neurodegeneration neurodegeneration with brain iron accumulation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017999 MONDO:0015150 True fatty acid hydroxylase-associated neurodegeneration complex hereditary spastic paraplegia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017999 MONDO:0018117 True fatty acid hydroxylase-associated neurodegeneration disorder of phospholipids, sphingolipids and fatty acids biosynthesis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017999 MONDO:0018307 True fatty acid hydroxylase-associated neurodegeneration neurodegeneration with brain iron accumulation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018000 MONDO:0018234 True hereditary thrombocytosis with transverse limb defect dysostosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018000 MONDO:0019054 True hereditary thrombocytosis with transverse limb defect congenital limb malformation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018000 MONDO:0021181 True hereditary thrombocytosis with transverse limb defect inherited blood coagulation disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018002 MONDO:0009637 True adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy inborn mitochondrial myopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018002 MONDO:0016387 True adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy mitochondrial oxidative phosphorylation disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018004 MONDO:0018872 True acute megakaryoblastic leukemia without down syndrome acute megakaryoblastic leukemia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018005 MONDO:0015087 True spastic paraplegia-Paget disease of bone syndrome autosomal dominant complex spastic paraplegia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018006 MONDO:0016108 True adult-onset distal myopathy due to VCP mutation autosomal dominant distal myopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018010 MONDO:0020122 True juvenile idiopathic inflammatory myopathy acquired idiopathic inflammatory myopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018011 MONDO:0018010 True juvenile overlap myositis juvenile idiopathic inflammatory myopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018013 MONDO:0018904 True non-immunoglobulin-mediated membranoproliferative glomerulonephritis primary membranoproliferative glomerulonephritis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018014 MONDO:0017714 True transient neonatal multiple acyl-CoA dehydrogenase deficiency acyl-CoA dehydrogenase deficiency UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018016 MONDO:0015066 True classic neuroendocrine tumor of appendix neuroendocrine tumor of the appendix, well differentiated, low or intermediate grade UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018017 MONDO:0002120 True goblet cell carcinoma neuroendocrine carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018017 MONDO:0003196 True goblet cell carcinoma appendix carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018017 MONDO:0021659 True goblet cell carcinoma combined carcinoid and adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018024 MONDO:0002406 True hydroa vacciniforme dermatitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018017 MONDO:0015066 True goblet cell carcinoma neuroendocrine tumor of the appendix, well differentiated, low or intermediate grade UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018018 MONDO:0016345 True wild type ATTR amyloidosis non-familial restrictive cardiomyopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018018 MONDO:0019065 True wild type ATTR amyloidosis amyloidosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0018022 MONDO:0017145 True hemoglobin Lepore-beta-thalassemia syndrome beta-thalassemia and related diseases UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018026 MONDO:0019934 True tetraploidy syndrome polyploidy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018027 MONDO:0019040 True duplication/inversion 15q11 chromosomal disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018028 MONDO:0016942 True tetrasomy 5p partial trisomy/tetrasomy of the short arm of chromosome 5 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018031 MONDO:0045071 True granulomatous slack skin disease mycosis fungoides variant UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018034 MONDO:0002254 True thalidomide embryopathy syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018037 MONDO:0002468 True hyper-IgE syndrome hyperimmunoglobulin syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0018044 MONDO:0005466 True idiopathic hypersomnia hypersomnia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018034 MONDO:0016677 True thalidomide embryopathy toxic or drug-related embryofetopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018034 MONDO:0018234 True thalidomide embryopathy dysostosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018034 MONDO:0019054 True thalidomide embryopathy congenital limb malformation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018037 MONDO:0002468 True hyper-IgE syndrome hyperimmunoglobulin syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0018039 MONDO:0001342 True selective IgM deficiency dysgammaglobulinemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0018043 MONDO:0015161 True Thomas syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018045 MONDO:0020022 True Hoyeraal-Hreidarsson syndrome central nervous system malformation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018047 MONDO:0021181 True familial thrombomodulin anomalies inherited blood coagulation disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018050 MONDO:0018234 True tibial aplasia-ectrodactyly syndrome dysostosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018050 MONDO:0019054 True tibial aplasia-ectrodactyly syndrome congenital limb malformation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018053 MONDO:0019287 True trichothiodystrophy ectodermal dysplasia syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS +MONDO:0018054 MONDO:0004981 True familial atrial fibrillation atrial fibrillation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0018055 MONDO:0006517 True pediatric hepatocellular carcinoma childhood malignant neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018055 MONDO:0007256 True pediatric hepatocellular carcinoma hepatocellular carcinoma UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0018056 MONDO:0006572 True bullous lichen planus lichen planus SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018058 MONDO:0005087 True tracheal agenesis respiratory system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018066 MONDO:0002254 True trisomy X syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018068 MONDO:0002254 True trisomy 13 syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0018072 MONDO:0005453 True persistent truncus arteriosus congenital heart disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018076 MONDO:0020590 True tuberculosis mycobacterial infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018055 MONDO:0007256 True pediatric hepatocellular carcinoma hepatocellular carcinoma UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0018056 MONDO:0006572 True bullous lichen planus lichen planus SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018059 MONDO:0006670 True meningococcal meningitis bacterial meningitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0018061 MONDO:0019287 True trichodermodysplasia-dental alterations syndrome ectodermal dysplasia syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018063 MONDO:0006591 True nodular non-suppurative panniculitis panniculitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0018063 MONDO:0019296 True nodular non-suppurative panniculitis subcutaneous tissue disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018064 MONDO:0015338 True trigonocephaly-broad thumbs syndrome syndromic craniosynostosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018065 MONDO:0015337 True isolated trigonocephaly isolated craniosynostosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018066 MONDO:0019852 True trisomy X inherited primary ovarian failure UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018067 MONDO:0019934 True triploidy polyploidy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018069 MONDO:0016967 True distal trisomy 17q partial duplication of the long arm of chromosome 17 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018072 MONDO:0016581 True persistent truncus arteriosus conotruncal heart malformations UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018075 MONDO:0020022 True neural tube defect central nervous system malformation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018076 MONDO:0000314 True tuberculosis primary bacterial infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0018077 MONDO:0000314 True tularemia primary bacterial infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0018078 MONDO:0005089 True soft tissue sarcoma sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018078 MONDO:0024637 True soft tissue sarcoma malignant soft tissue neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018079 MONDO:0005197 True thymic epithelial neoplasm thymus neoplasm UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018079 MONDO:0005197 True thymic epithelial neoplasm thymus neoplasm UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018079 MONDO:0005626 True thymic epithelial neoplasm epithelial neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018087 MONDO:0005108 True viral hemorrhagic fever viral infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018094 MONDO:0002254 True Waardenburg syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0018096 MONDO:0002254 True Weill-Marchesani syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0018097 MONDO:0002254 True West syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0018102 MONDO:0000942 True corneal dystrophy corneal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0018105 MONDO:0002254 True Wolfram syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0018124 MONDO:0001068 True Oncogenic osteomalacia osteomalacia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018124 MONDO:0021073 True Oncogenic osteomalacia paraneoplastic syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018081 MONDO:0018087 True hemorrhagic fever-renal syndrome viral hemorrhagic fever UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018082 MONDO:0020292 True aorto-ventricular tunnel congenital anomaly of the great arteries UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018084 MONDO:0004994 True Uhl anomaly cardiomyopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018086 MONDO:0018855 True ulerythema ophryogenesis keratosis pilaris atrophicans UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018088 MONDO:0005046 True familial Mediterranean fever immune system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0018088 MONDO:0017953 True familial Mediterranean fever hereditary periodic fever syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018089 MONDO:0002070 True double outlet right ventricle ventricular septal defect UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0018089 MONDO:0016581 True double outlet right ventricle conotruncal heart malformations UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018090 MONDO:0016581 True double outlet left ventricle conotruncal heart malformations UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018091 MONDO:0015159 True microcephaly-brachydactyly-kyphoscoliosis syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018091 MONDO:0019054 True microcephaly-brachydactyly-kyphoscoliosis syndrome congenital limb malformation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018092 MONDO:0017255 True Vogt-Koyanagi-Harada disease panuveitis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0018094 MONDO:0000426 True Waardenburg syndrome autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0018094 MONDO:0002254 True Waardenburg syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0018094 MONDO:0015161 True Waardenburg syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018095 MONDO:0015159 True Weaver-Williams syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018096 MONDO:0000429 True Weill-Marchesani syndrome autosomal genetic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0018096 MONDO:0002254 True Weill-Marchesani syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0018096 MONDO:0015161 True Weill-Marchesani syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018096 MONDO:0019695 True Weill-Marchesani syndrome acromelic dysplasia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018097 MONDO:0000413 True West syndrome infancy electroclinical syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0018100 MONDO:0004689 True familial primary hypomagnesemia inborn metal metabolism disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0018102 MONDO:0000942 True corneal dystrophy corneal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0018103 MONDO:0004907 True Quinquaud's folliculitis decalvans alopecia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018105 MONDO:0002254 True Wolfram syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0018106 MONDO:0019236 True hereditary xanthinuria inborn disorder of purine metabolism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018116 MONDO:0017690 True galactosemia disorder of galactose metabolism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018117 MONDO:0002525 True disorder of phospholipids, sphingolipids and fatty acids biosynthesis inherited lipid metabolism disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018121 MONDO:0016387 True mitochondrial DNA maintenance syndrome mitochondrial oxidative phosphorylation disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018125 MONDO:0015653 True focal epilepsy-intellectual disability-cerebro-cerebellar malformation monogenic epilepsy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018126 MONDO:0020071 True progressive myoclonic epilepsy with dystonia infantile epilepsy syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018127 MONDO:0016914 True 16q24.1 microdeletion syndrome partial deletion of the long arm of chromosome 16 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018128 MONDO:0019707 True phalangeal microgeodic syndrome primary osteolysis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018129 MONDO:0019255 True autosomal recessive cerebellar ataxia with late-onset spasticity sphingolipidosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018129 MONDO:0020044 True autosomal recessive cerebellar ataxia with late-onset spasticity autosomal recessive metabolic cerebellar ataxia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018130 MONDO:0013150 True brain dopamine-serotonin vesicular transport disease parkinsonism-dystonia, infantile UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0018150 MONDO:0019255 True Gaucher disease sphingolipidosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0018160 MONDO:0008380 True hereditary retinoblastoma retinoblastoma UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0018166 MONDO:0006858 True oral submucous fibrosis mouth disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0018170 MONDO:0005377 True idiopathic nephrotic syndrome nephrotic syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018130 MONDO:0019219 True brain dopamine-serotonin vesicular transport disease inborn disorder of neurotransmitter metabolism and transport UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018131 MONDO:0016908 True neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-hip dysplasia syndrome due to 9q21 microdeletion partial monosomy of the long arm of chromosome 9 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018131 MONDO:0018681 True neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-hip dysplasia syndrome due to 9q21 microdeletion neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-hip dysplasia syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018133 MONDO:0020127 True attenuated Chédiak-Higashi syndrome hereditary peripheral neuropathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018133 MONDO:0024237 True attenuated Chédiak-Higashi syndrome inherited neurodegenerative disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018134 MONDO:0019189 True disorder of melanin metabolism inborn disorder of amino acid and other organic acid metabolism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018135 MONDO:0018910 True oculocutaneous albinism type 1 oculocutaneous albinism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018136 MONDO:0018135 True minimal pigment oculocutaneous albinism type 1 oculocutaneous albinism type 1 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018137 MONDO:0018135 True temperature-sensitive oculocutaneous albinism type 1 oculocutaneous albinism type 1 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018141 MONDO:0009949 True pyruvate carboxylase deficiency, infantile form pyruvate carboxylase deficiency disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018142 MONDO:0009949 True pyruvate carboxylase deficiency, severe neonatal type pyruvate carboxylase deficiency disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018143 MONDO:0009949 True pyruvate carboxylase deficiency, benign type pyruvate carboxylase deficiency disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018149 MONDO:0017719 True GM1 gangliosidosis gangliosidosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0018150 MONDO:0019255 True Gaucher disease sphingolipidosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0018151 MONDO:0016387 True coenzyme Q10 deficiency mitochondrial oxidative phosphorylation disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018151 MONDO:0020127 True coenzyme Q10 deficiency hereditary peripheral neuropathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018152 MONDO:0001280 True serpiginous choroiditis choroiditis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018153 MONDO:0015531 True Erdheim-Chester disease non-Langerhans cell histiocytosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0018156 MONDO:0016902 True 3q26q27 microdeletion syndrome partial deletion of the long arm of chromosome 3 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018158 MONDO:0016387 True mitochondrial DNA depletion syndrome mitochondrial oxidative phosphorylation disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018160 MONDO:0008380 True hereditary retinoblastoma retinoblastoma UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0018160 MONDO:0015356 True hereditary retinoblastoma hereditary neoplastic syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018161 MONDO:0008380 True non-hereditary retinoblastoma retinoblastoma UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018163 MONDO:0019573 True autosomal recessive cutis laxa type 2A autosomal recessive cutis laxa type 2 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018164 MONDO:0005979 True arterial thoracic outlet syndrome thoracic outlet syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018165 MONDO:0005979 True venous thoracic outlet syndrome thoracic outlet syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018166 MONDO:0006858 True oral submucous fibrosis mouth disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0018167 MONDO:0019033 True primary essential cutis verticis gyrata primary cutis verticis gyrata UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018168 MONDO:0019033 True primary non-essential cutis verticis gyrata primary cutis verticis gyrata UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018171 MONDO:0006290 True malignant germ cell tumor of ovary malignant germ cell tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018171 MONDO:0011366 True malignant germ cell tumor of ovary ovarian germ cell tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0018171 MONDO:0011366 True malignant germ cell tumor of ovary ovarian germ cell tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0018171 MONDO:0018202 True malignant germ cell tumor of ovary gonadal germ cell tumor UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018171 MONDO:0018365 True malignant germ cell tumor of ovary malignant non-epithelial tumor of ovary UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018172 MONDO:0018365 True malignant sex cord stromal tumor of ovary malignant non-epithelial tumor of ovary UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018172 MONDO:0021657 True malignant sex cord stromal tumor of ovary ovarian sex cord-stromal tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018177 MONDO:0016680 True glioblastoma high grade astrocytic tumor UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018177 MONDO:0016680 True glioblastoma high grade astrocytic tumor UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018180 MONDO:0017592 True staphylococcal scarlet fever staphylococcal toxemia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018181 MONDO:0000315 True staphylococcal scalded skin syndrome commensal bacterial infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0018181 MONDO:0017592 True staphylococcal scalded skin syndrome staphylococcal toxemia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018182 MONDO:0017592 True bullous impetigo staphylococcal toxemia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018183 MONDO:0017592 True staphylococcal necrotizing pneumonia staphylococcal toxemia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018189 MONDO:0019216 True autosomal recessive cerebellar ataxia - pyramidal signs - nystagmus - oculomotor apraxia syndrome inborn disorder of amino acid transport UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018189 MONDO:0020044 True autosomal recessive cerebellar ataxia - pyramidal signs - nystagmus - oculomotor apraxia syndrome autosomal recessive metabolic cerebellar ataxia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018193 MONDO:0010108 True testicular teratoma testicular germ cell tumor UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018197 MONDO:0015962 True mitochondrial DNA depletion syndrome, hepatocerebrorenal form inherited renal tubular disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018197 MONDO:0100512 True mitochondrial DNA depletion syndrome, hepatocerebrorenal form mitochondrial DNA depletion syndrome, hepatocerebral form UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018198 MONDO:0020072 True acute encephalopathy with biphasic seizures and late reduced diffusion childhood-onset epilepsy syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018199 MONDO:0020072 True new-onset refractory status epilepticus childhood-onset epilepsy syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018199 MONDO:0020073 True new-onset refractory status epilepticus adolescent-onset epilepsy syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018201 MONDO:0005040 True extragonadal germ cell tumor germ cell tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018221 MONDO:0015193 True immune hydrops fetalis hydrops fetalis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018203 MONDO:0019303 True LMNA-related cardiocutaneous progeria syndrome premature aging syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018204 MONDO:0015159 True 20q11.2 microduplication syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018204 MONDO:0016970 True 20q11.2 microduplication syndrome partial trisomy of the long arm of chromosome 20 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018205 MONDO:0022756 True distal monosomy 1q chromosome 1q deletion UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018206 MONDO:0016112 True childhood-onset autosomal recessive myopathy with external ophthalmoplegia hereditary inclusion-body myopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018207 MONDO:0015159 True 2p13.2 microdeletion syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018207 MONDO:0016884 True 2p13.2 microdeletion syndrome partial deletion of the short arm of chromosome 2 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018208 MONDO:0018975 True neurofibromatosis type 1 due to NF1 mutation or intragenic deletion neurofibromatosis type 1 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018209 MONDO:0008752 True Alexander disease type I Alexander disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018210 MONDO:0008752 True Alexander disease type II Alexander disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018213 MONDO:0015364 True hereditary sensory and autonomic neuropathy type 1 hereditary sensory and autonomic neuropathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0018213 MONDO:0018117 True hereditary sensory and autonomic neuropathy type 1 disorder of phospholipids, sphingolipids and fatty acids biosynthesis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018214 MONDO:0015653 True generalized epilepsy with febrile seizures plus monogenic epilepsy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018216 MONDO:0012496 True Koolen-de Vries syndrome due to 17q21.31 microdeletion syndrome Koolen-de Vries syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018216 MONDO:0016915 True Koolen-de Vries syndrome due to 17q21.31 microdeletion syndrome partial deletion of the long arm of chromosome 17 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018217 MONDO:0012496 True Koolen-de Vries syndrome due to a point mutation Koolen-de Vries syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018218 MONDO:0024237 True autosomal recessive cerebral atrophy inherited neurodegenerative disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018221 MONDO:0015193 True immune hydrops fetalis hydrops fetalis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018223 MONDO:0000430 True systemic Epstein-Barr virus-positive T-cell lymphoproliferative disease of childhood mature T-cell and NK-cell non-Hodgkin lymphoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0018223 MONDO:0003659 True systemic Epstein-Barr virus-positive T-cell lymphoproliferative disease of childhood pediatric lymphoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0018223 MONDO:0000621 True systemic Epstein-Barr virus-positive T-cell lymphoproliferative disease of childhood immune system cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0018223 MONDO:0003659 True systemic Epstein-Barr virus-positive T-cell lymphoproliferative disease of childhood pediatric lymphoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0018223 MONDO:0006188 True systemic Epstein-Barr virus-positive T-cell lymphoproliferative disease of childhood EBV-positive T-cell lymphoproliferative disorder of childhood UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018223 MONDO:0017343 True systemic Epstein-Barr virus-positive T-cell lymphoproliferative disease of childhood Epstein-Barr virus-associated malignant lymphoproliferative disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018224 MONDO:0006188 True hydroa vacciniforme-like lymphoma EBV-positive T-cell lymphoproliferative disorder of childhood UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018225 MONDO:0018905 True ALK-positive large B-cell lymphoma diffuse large B-cell lymphoma UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018229 MONDO:0002254 True Stevens-Johnson syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0018237 MONDO:0018234 True acrofacial dysostosis dysostosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0018264 MONDO:0018910 True oculocutaneous albinism type 6 oculocutaneous albinism UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0018270 MONDO:0012817 True extraskeletal Ewing sarcoma Ewing sarcoma UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0018270 MONDO:0018078 True extraskeletal Ewing sarcoma soft tissue sarcoma UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018224 MONDO:0017343 True hydroa vacciniforme-like lymphoma Epstein-Barr virus-associated malignant lymphoproliferative disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018225 MONDO:0018905 True ALK-positive large B-cell lymphoma diffuse large B-cell lymphoma UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018226 MONDO:0020065 True infantile epileptic-dyskinetic encephalopathy combined dystonia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018227 MONDO:0015491 True hypocomplementemic urticarial vasculitis immune complex mediated vasculitis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018228 MONDO:0018234 True bipartite talus dysostosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018229 MONDO:0019810 True Stevens-Johnson syndrome toxic epidermal necrolysis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018233 MONDO:0019690 True otopalatodigital syndrome spectrum disorder filamin-related bone disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018234 MONDO:0005497 True dysostosis bone development disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0018237 MONDO:0018234 True acrofacial dysostosis dysostosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0018244 MONDO:0019182 True obesity due to SIM1 deficiency inherited obesity UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018247 MONDO:0015327 True CADDS developmental anomaly of metabolic origin UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018247 MONDO:0019046 True CADDS leukodystrophy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018247 MONDO:0019053 True CADDS peroxisomal disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018248 MONDO:0015159 True intellectual disability-seizures-macrocephaly-obesity syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018250 MONDO:0017666 True diffuse palmoplantar keratoderma with painful fissures diffuse palmoplantar keratoderma UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018252 MONDO:0017672 True focal palmoplantar keratoderma with joint keratoses focal palmoplantar keratoderma UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018253 MONDO:0015159 True intellectual disability-facial dysmorphism-hand anomalies syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018256 MONDO:0018874 True acute myeloid leukemia with t(8;16)(p11;p13) translocation acute myeloid leukemia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018257 MONDO:0020508 True familial syringomyelia primary syringomyelia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018263 MONDO:0016677 True fetal carbamazepine syndrome toxic or drug-related embryofetopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018264 MONDO:0018910 True oculocutaneous albinism type 6 oculocutaneous albinism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0018266 MONDO:0020065 True ataxia - telangiectasia variant combined dystonia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018268 MONDO:0020117 True Medich giant platelet syndrome alpha granule disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018269 MONDO:0020117 True white platelet syndrome alpha granule disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018270 MONDO:0012817 True extraskeletal Ewing sarcoma Ewing sarcoma UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0018270 MONDO:0018078 True extraskeletal Ewing sarcoma soft tissue sarcoma UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018270 MONDO:0021039 True extraskeletal Ewing sarcoma extraskeletal Ewing sarcoma/peripheral primitive neuroectodermal tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0018271 MONDO:0005462 True peripheral primitive neuroectodermal tumor primitive neuroectodermal tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018271 MONDO:0021038 True peripheral primitive neuroectodermal tumor Ewing sarcoma/peripheral primitive neuroectodermal tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018271 MONDO:0021089 True peripheral primitive neuroectodermal tumor peripheral nervous system cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018301 MONDO:0006030 True interstitial cystitis chronic cystitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0018308 MONDO:0024478 True liver mesenchymal hamartoma mesenchymal hamartoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018326 MONDO:0009688 True transient neonatal myasthenia gravis myasthenia gravis UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018327 MONDO:0002604 True glomus tumor pericytic neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0018273 MONDO:0015159 True XYLT1-congenital disorder of glycosylation multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018273 MONDO:0015286 True XYLT1-congenital disorder of glycosylation congenital disorder of glycosylation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018273 MONDO:0015327 True XYLT1-congenital disorder of glycosylation developmental anomaly of metabolic origin UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018274 MONDO:0006025 True GM3 synthase deficiency autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0018274 MONDO:0017748 True GM3 synthase deficiency inborn disorder of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018274 MONDO:0018117 True GM3 synthase deficiency disorder of phospholipids, sphingolipids and fatty acids biosynthesis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018276 MONDO:0019950 True muscular dystrophy-dystroglycanopathy congenital muscular dystrophy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0018278 MONDO:0015286 True congenital muscular dystrophy with intellectual disability congenital disorder of glycosylation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018278 MONDO:0018276 True congenital muscular dystrophy with intellectual disability muscular dystrophy-dystroglycanopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018280 MONDO:0018276 True muscle-eye-brain disease with bilateral multicystic leucodystrophy muscular dystrophy-dystroglycanopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018280 MONDO:0018869 True muscle-eye-brain disease with bilateral multicystic leucodystrophy cobblestone lissencephaly UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018281 MONDO:0019950 True congenital muscular dystrophy with hyperlaxity congenital muscular dystrophy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018282 MONDO:0016139 True qualitative or quantitative defects of alpha-dystroglycan qualitative or quantitative protein defects in neuromuscular diseases UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018298 MONDO:0019707 True multicentric osteolysis-nodulosis-arthropathy spectrum primary osteolysis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018301 MONDO:0006030 True interstitial cystitis chronic cystitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0018304 MONDO:0019751 True Schnitzler syndrome autoinflammatory syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018305 MONDO:0005910 True chronic granulomatous disease phagocyte bactericidal dysfunction UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0018306 MONDO:0017305 True Griscelli syndrome syndromic oculocutaneous albinism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018307 MONDO:0015547 True neurodegeneration with brain iron accumulation hereditary dementia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018307 MONDO:0024237 True neurodegeneration with brain iron accumulation inherited neurodegenerative disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018308 MONDO:0024477 True liver mesenchymal hamartoma liver and intrahepatic bile duct neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018310 MONDO:0002637 True Langerhans cell histiocytosis histiocytosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0018310 MONDO:0020082 True Langerhans cell histiocytosis dendritic cell tumor UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018311 MONDO:0019289 True acromelanosis hyperpigmentation of the skin UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018312 MONDO:0000308 True histoplasmosis primary systemic mycosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0018314 MONDO:0015653 True infantile-onset mesial temporal lobe epilepsy with severe cognitive regression monogenic epilepsy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018314 MONDO:0020071 True infantile-onset mesial temporal lobe epilepsy with severe cognitive regression infantile epilepsy syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018316 MONDO:0024237 True fatal post-viral neurodegenerative disorder inherited neurodegenerative disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018319 MONDO:0020127 True familial episodic pain syndrome hereditary peripheral neuropathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018322 MONDO:0010327 True HSD10 disease, infantile type HSD10 mitochondrial disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018323 MONDO:0010327 True HSD10 disease, neonatal type HSD10 mitochondrial disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018324 MONDO:0009688 True adult-onset myasthenia gravis myasthenia gravis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018325 MONDO:0009688 True juvenile myasthenia gravis myasthenia gravis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018326 MONDO:0009688 True transient neonatal myasthenia gravis myasthenia gravis UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018326 MONDO:0018356 True transient neonatal myasthenia gravis secondary neonatal autoimmune disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018327 MONDO:0002604 True glomus tumor pericytic neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0018330 MONDO:0006087 True mucinous adenocarcinoma of the appendix appendix adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018352 MONDO:0005096 True squamous cell carcinoma of penis squamous cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0018352 MONDO:0006360 True squamous cell carcinoma of penis penile carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0018364 MONDO:0002229 True malignant epithelial tumor of ovary ovarian epithelial tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0018364 MONDO:0008170 True malignant epithelial tumor of ovary ovarian cancer UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0018332 MONDO:0009282 True multiple acyl-CoA dehydrogenase deficiency, severe neonatal type multiple acyl-CoA dehydrogenase deficiency UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018333 MONDO:0009282 True multiple acyl-CoA dehydrogenase deficiency, mild type multiple acyl-CoA dehydrogenase deficiency UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018338 MONDO:0015977 True activated PI3K-delta syndrome agammaglobulinemia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018341 MONDO:0015159 True 3q27.3 microdeletion syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018342 MONDO:0015369 True Joubert syndrome with Jeune asphyxiating thoracic dystrophy Joubert syndrome and related disorders UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018342 MONDO:0015461 True Joubert syndrome with Jeune asphyxiating thoracic dystrophy short rib-polydactyly syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018343 MONDO:0000995 True periodic paralysis with later-onset distal motor neuropathy familial periodic paralysis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018343 MONDO:0016387 True periodic paralysis with later-onset distal motor neuropathy mitochondrial oxidative phosphorylation disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018343 MONDO:0019056 True periodic paralysis with later-onset distal motor neuropathy neuromuscular disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018346 MONDO:0019052 True ferro-cerebro-cutaneous syndrome inborn errors of metabolism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018346 MONDO:0024237 True ferro-cerebro-cutaneous syndrome inherited neurodegenerative disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018349 MONDO:0017740 True MAN1B1-congenital disorder of glycosylation disorder of protein N-glycosylation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018352 MONDO:0005096 True squamous cell carcinoma of penis squamous cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0018352 MONDO:0006360 True squamous cell carcinoma of penis penile carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0018354 MONDO:0015770 True Prader-Willi-like syndrome congenital hypogonadotropic hypogonadism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018355 MONDO:0018354 True SIM1-related Prader-Willi-like syndrome Prader-Willi-like syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018357 MONDO:0018356 True neonatal antiphospholipid syndrome secondary neonatal autoimmune disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018358 MONDO:0018356 True neonatal autoimmune hemolytic anemia secondary neonatal autoimmune disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018359 MONDO:0018356 True neonatal dermatomyositis secondary neonatal autoimmune disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018360 MONDO:0018356 True neonatal lupus erythematosus secondary neonatal autoimmune disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018361 MONDO:0018356 True neonatal scleroderma secondary neonatal autoimmune disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018363 MONDO:0019287 True focal facial dermal dysplasia ectodermal dysplasia syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0018364 MONDO:0002229 True malignant epithelial tumor of ovary ovarian epithelial tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0018364 MONDO:0004993 True malignant epithelial tumor of ovary carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0018364 MONDO:0008170 True malignant epithelial tumor of ovary ovarian cancer UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0018365 MONDO:0008170 True malignant non-epithelial tumor of ovary ovarian cancer UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018368 MONDO:0006386 True primary peritoneal serous/papillary carcinoma primary peritoneal serous adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018369 MONDO:0003821 True immature ovarian teratoma ovarian biphasic or triphasic teratoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0018373 MONDO:0005380 True avascular necrosis osteonecrosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018439 MONDO:0000702 True eosinophilic colitis microscopic colitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018370 MONDO:0016108 True KLHL9-related early-onset distal myopathy autosomal dominant distal myopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018371 MONDO:0018949 True nebulin-related early-onset distal myopathy distal myopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018373 MONDO:0005380 True avascular necrosis osteonecrosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018374 MONDO:0018373 True secondary avascular necrosis avascular necrosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018375 MONDO:0018374 True traumatic avascular necrosis secondary avascular necrosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018376 MONDO:0018374 True secondary non-traumatic avascular necrosis secondary avascular necrosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018378 MONDO:0018374 True osteonecrosis of the jaw secondary avascular necrosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018379 MONDO:0018373 True primary avascular necrosis avascular necrosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018380 MONDO:0018379 True idiopathic avascular necrosis primary avascular necrosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018381 MONDO:0005380 True osteochondrosis osteonecrosis UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0018382 MONDO:0005380 True epiphysiolysis of the hip osteonecrosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018416 MONDO:0015150 True autosomal recessive spastic paraplegia type 59 complex hereditary spastic paraplegia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018417 MONDO:0015150 True autosomal recessive spastic paraplegia type 60 complex hereditary spastic paraplegia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018418 MONDO:0015150 True autosomal recessive spastic paraplegia type 66 complex hereditary spastic paraplegia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018419 MONDO:0015150 True autosomal recessive spastic paraplegia type 67 complex hereditary spastic paraplegia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018421 MONDO:0015150 True autosomal recessive spastic paraplegia type 69 complex hereditary spastic paraplegia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018422 MONDO:0015150 True autosomal recessive spastic paraplegia type 70 complex hereditary spastic paraplegia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018423 MONDO:0015149 True autosomal recessive spastic paraplegia type 71 pure hereditary spastic paraplegia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018424 MONDO:0004069 True inherited lipoic acid biosynthesis defect inborn mitochondrial metabolism disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018426 MONDO:0016362 True AXIN2-related attenuated familial adenomatous polyposis attenuated familial adenomatous polyposis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018428 MONDO:0015159 True 9q31.1q31.3 microdeletion syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018428 MONDO:0016908 True 9q31.1q31.3 microdeletion syndrome partial monosomy of the long arm of chromosome 9 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018429 MONDO:0015159 True 14q24.1q24.3 microdeletion syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018429 MONDO:0016912 True 14q24.1q24.3 microdeletion syndrome partial deletion of the long arm of chromosome 14 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018430 MONDO:0020022 True partial corpus callosum agenesis-cerebellar vermis hypoplasia with posterior fossa cysts syndrome central nervous system malformation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018431 MONDO:0015364 True cold-induced sweating syndrome - hyperthermia spectrum hereditary sensory and autonomic neuropathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018432 MONDO:0021154 True lichen myxedematosus dermis disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018433 MONDO:0018874 True acute myeloid leukemia with t(6;9)(p23;q34) acute myeloid leukemia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018434 MONDO:0018874 True acute myeloid leukemia with t(9;11)(p22;q23) acute myeloid leukemia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018435 MONDO:0018874 True acute myeloid leukemia with inv3(p21;q26.2) or t(3;3)(p21;q26.2) acute myeloid leukemia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018436 MONDO:0018874 True megakaryoblastic acute myeloid leukemia with t(1;22)(p13;q13) acute myeloid leukemia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018437 MONDO:0018874 True acute myeloid leukemia with NPM1 somatic mutations acute myeloid leukemia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018440 MONDO:0015827 True autosomal recessive distal renal tubular acidosis distal renal tubular acidosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018442 MONDO:0016677 True acitretin/etretinate embryopathy toxic or drug-related embryofetopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018443 MONDO:0015159 True FBLN1-related developmental delay-central nervous system anomaly-syndactyly syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018445 MONDO:0019716 True global developmental delay - lung cysts - overgrowth - Wilms tumor syndrome overgrowth syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018446 MONDO:0015244 True autosomal recessive cerebellar ataxia - epilepsy - intellectual disability syndrome autosomal recessive cerebellar ataxia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018446 MONDO:0015653 True autosomal recessive cerebellar ataxia - epilepsy - intellectual disability syndrome monogenic epilepsy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018447 MONDO:0000631 True chondromyxoid fibroma bone benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018447 MONDO:0024470 True chondromyxoid fibroma benign chondrogenic neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018453 MONDO:0015356 True familial atypical multiple mole melanoma syndrome hereditary neoplastic syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018449 MONDO:0005086 True acquired cystic disease-associated renal cell carcinoma renal cell carcinoma UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018450 MONDO:0024257 True spinal muscular atrophy with respiratory distress type 2 hereditary motor neuron disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018453 MONDO:0015356 True familial atypical multiple mole melanoma syndrome hereditary neoplastic syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018456 MONDO:0011429 True polyarticular juvenile idiopathic arthritis juvenile idiopathic arthritis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018458 MONDO:0001566 True familial hypocalciuric hypercalcemia hypercalcemia disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0018458 MONDO:0017014 True familial hypocalciuric hypercalcemia interstitial lung disease specific to childhood UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018458 MONDO:0019052 True familial hypocalciuric hypercalcemia inborn errors of metabolism UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0018459 MONDO:0010613 True isolated glycerol kinase deficiency inborn glycerol kinase deficiency UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018461 MONDO:0007113 True Angelman syndrome due to a point mutation Angelman syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018462 MONDO:0007113 True Angelman syndrome due to imprinting defect in 15q11-q13 Angelman syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018463 MONDO:0010395 True mild phosphoribosylpyrophosphate synthetase superactivity phosphoribosylpyrophosphate synthetase superactivity UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018464 MONDO:0010395 True severe phosphoribosylpyrophosphate synthetase superactivity phosphoribosylpyrophosphate synthetase superactivity UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018465 MONDO:0000569 True insulin autoimmune syndrome autoimmune disorder of endocrine system UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0018465 MONDO:0005803 True insulin autoimmune syndrome hyperinsulinemic hypoglycemia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0018468 MONDO:0018438 True proton-pump inhibitor-responsive esophageal eosinophilia eosinophilic gastrointestinal disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018473 MONDO:0001336 True hyperlipoproteinemia type 3 familial hyperlipidemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0018474 MONDO:0015159 True 13q12.3 microdeletion syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018474 MONDO:0016911 True 13q12.3 microdeletion syndrome partial deletion of the long arm of chromosome 13 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018474 MONDO:0019268 True 13q12.3 microdeletion syndrome epidermal disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018475 MONDO:0015547 True PRKAR1B-related neurodegenerative dementia with intermediate filaments hereditary dementia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018475 MONDO:0024237 True PRKAR1B-related neurodegenerative dementia with intermediate filaments inherited neurodegenerative disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018476 MONDO:0020065 True dystonia-aphonia syndrome combined dystonia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018477 MONDO:0005560 True bilirubin encephalopathy brain disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0018477 MONDO:0017755 True bilirubin encephalopathy inborn disorder of bilirubin metabolism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018479 MONDO:0005523 True congenital adrenal hyperplasia steroid inherited metabolic disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0018479 MONDO:0015129 True congenital adrenal hyperplasia chronic primary adrenal insufficiency UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0018479 MONDO:0015514 True congenital adrenal hyperplasia hereditary endocrine growth disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018479 MONDO:0015898 True congenital adrenal hyperplasia adrenogenital syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018480 MONDO:0019086 True carcinoma of esophagus, salivary gland type carcinoma of esophagus UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018481 MONDO:0005617 True undifferentiated carcinoma of esophagus undifferentiated carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018492 MONDO:0003008 True hereditary clear cell renal cell carcinoma hereditary renal cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0018485 MONDO:0009290 True glycogen storage disease due to acid maltase deficiency, late-onset glycogen storage disease II UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018487 MONDO:0028226 True autosomal recessive severe congenital neutropenia due to CXCR2 deficiency autosomal recessive severe congenital neutropenia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018490 MONDO:0015159 True cono-spondylar dysplasia multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018492 MONDO:0003008 True hereditary clear cell renal cell carcinoma hereditary renal cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0018492 MONDO:0005005 True hereditary clear cell renal cell carcinoma clear cell renal carcinoma UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0018493 MONDO:0003847 True malignant hyperthermia of anesthesia hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0018493 MONDO:0019119 True malignant hyperthermia of anesthesia muscular channelopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018494 MONDO:0015159 True microcephaly-short stature-intellectual disability-facial dysmorphism syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018495 MONDO:0019118 True X-linked intellectual disability-limb spasticity-retinal dystrophy-diabetes insipidus syndrome inherited retinal dystrophy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018495 MONDO:0019236 True X-linked intellectual disability-limb spasticity-retinal dystrophy-diabetes insipidus syndrome inborn disorder of purine metabolism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018498 MONDO:0018089 True double outlet right ventricle with subaortic or doubly committed ventricular septal defect double outlet right ventricle UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018499 MONDO:0018089 True double outlet right ventricle with atrioventricular septal defect, pulmonary stenosis, heterotaxy double outlet right ventricle UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018504 MONDO:0004950 True undifferentiated carcinoma of stomach gastric carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018504 MONDO:0005617 True undifferentiated carcinoma of stomach undifferentiated carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018509 MONDO:0005096 True squamous cell carcinoma of the small intestine squamous cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018509 MONDO:0005522 True squamous cell carcinoma of the small intestine small intestine carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018510 MONDO:0002883 True small intestine neuroendocrine neoplasm intestinal neuroendocrine neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0018510 MONDO:0004251 True small intestine neuroendocrine neoplasm small intestine neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0018513 MONDO:0002032 True squamous cell carcinoma of colon colon carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0018510 MONDO:0004251 True small intestine neuroendocrine neoplasm small intestine neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0018513 MONDO:0002032 True squamous cell carcinoma of colon colon carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0018513 MONDO:0006165 True squamous cell carcinoma of colon colorectal squamous cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018515 MONDO:0006165 True squamous cell carcinoma of rectum colorectal squamous cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018515 MONDO:0044937 True squamous cell carcinoma of rectum rectal carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018521 MONDO:0005096 True squamous cell carcinoma of pancreas squamous cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0018523 MONDO:0002809 True pancreatic mucinous cystadenoma pancreatic cystadenoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0018525 MONDO:0005192 True solid pseudopapillary carcinoma of pancreas exocrine pancreatic carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0018531 MONDO:0002691 True carcinoma of liver and intrahepatic biliary tract liver cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018531 MONDO:0006181 True carcinoma of liver and intrahepatic biliary tract digestive system carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018542 MONDO:0015134 True severe congenital neutropenia constitutional neutropenia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018544 MONDO:0019046 True adrenoleukodystrophy leukodystrophy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS -MONDO:0018555 MONDO:0002146 True hypogonadotropic hypogonadism hypogonadism UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0018604 MONDO:0018630 True familial colorectal cancer type X hereditary nonpolyposis colon cancer UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018612 MONDO:0005420 True congenital hypothyroidism hypothyroidism UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0018613 MONDO:0019065 True AH amyloidosis amyloidosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0018616 MONDO:0005283 True central serous chorioretinopathy retinal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018630 MONDO:0015356 True hereditary nonpolyposis colon cancer hereditary neoplastic syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018634 MONDO:0019065 True hereditary amyloidosis amyloidosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018646 MONDO:0004789 True sclerosing cholangitis cholangitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0018660 MONDO:0002242 True hemophilia coagulation protein disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018533 MONDO:0018531 True undifferentiated carcinoma of liver and intrahepatic biliary tract carcinoma of liver and intrahepatic biliary tract UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018534 MONDO:0018531 True squamous cell carcinoma of liver and intrahepatic biliary tract carcinoma of liver and intrahepatic biliary tract UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018535 MONDO:0018531 True biliary cystadenocarcinoma carcinoma of liver and intrahepatic biliary tract UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018536 MONDO:0018918 True adenocarcinoma of gallbladder and extrahepatic biliary tract carcinoma of gallbladder and extrahepatic biliary tract UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018537 MONDO:0018918 True squamous cell carcinoma of gallbladder and extrahepatic biliary tract carcinoma of gallbladder and extrahepatic biliary tract UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018540 MONDO:0019751 True PFAPA syndrome autoinflammatory syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018541 MONDO:0015900 True familial hypoaldosteronism hypoaldosteronism disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018542 MONDO:0015134 True severe congenital neutropenia constitutional neutropenia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018543 MONDO:0000426 True autosomal dominant hypocalcemia autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0018543 MONDO:0016390 True autosomal dominant hypocalcemia familial hypoparathyroidism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS +MONDO:0018544 MONDO:0000425 True adrenoleukodystrophy X-linked disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0018544 MONDO:0015547 True adrenoleukodystrophy hereditary dementia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018544 MONDO:0019046 True adrenoleukodystrophy leukodystrophy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED +MONDO:0018551 MONDO:0018565 True patent urachus congenital urachal anomaly UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018552 MONDO:0018565 True urachal sinus congenital urachal anomaly UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018553 MONDO:0018565 True urachal diverticulum congenital urachal anomaly UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018555 MONDO:0002146 True hypogonadotropic hypogonadism hypogonadism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0018556 MONDO:0018215 True Lambert-Eaton myasthenic syndrome paraneoplastic neurologic syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018559 MONDO:0019356 True fetal lower urinary tract obstruction urogenital tract malformation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018564 MONDO:0016885 True 3p25.3 microdeletion syndrome partial deletion of the short arm of chromosome 3 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018566 MONDO:0018230 True short stature-advanced bone age-early-onset osteoarthritis syndrome skeletal dysplasia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018567 MONDO:0018993 True autosomal dominant Charcot-Marie-Tooth disease type 2 due to TFG mutation Charcot-Marie-Tooth disease type 2 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018570 MONDO:0015327 True hypophosphatasia developmental anomaly of metabolic origin UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018571 MONDO:0016904 True contractures-developmental delay-Pierre Robin syndrome partial deletion of the long arm of chromosome 5 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018572 MONDO:0015159 True severe intellectual disability-hypotonia-strabismus-coarse face-planovalgus syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018576 MONDO:0016387 True non-progressive predominantly posterior cavitating leukoencephalopathy with peripheral neuropathy mitochondrial oxidative phosphorylation disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018576 MONDO:0019046 True non-progressive predominantly posterior cavitating leukoencephalopathy with peripheral neuropathy leukodystrophy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018576 MONDO:0020127 True non-progressive predominantly posterior cavitating leukoencephalopathy with peripheral neuropathy hereditary peripheral neuropathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018581 MONDO:0008491 True progressive encephalomyelitis with rigidity and myoclonus stiff-person syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018586 MONDO:0019268 True zinc-responsive necrolytic acral erythema epidermal disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018587 MONDO:0015923 True non-recovering obstetric brachial plexus lesion acquired peripheral neuropathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018588 MONDO:0019065 True ALECT2 amyloidosis amyloidosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018589 MONDO:0019065 True AApoAIV amyloidosis amyloidosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0018590 MONDO:0019065 True ABeta2M amyloidosis amyloidosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0018591 MONDO:0018634 True ITM2B amyloidosis hereditary amyloidosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018591 MONDO:0024237 True ITM2B amyloidosis inherited neurodegenerative disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018592 MONDO:0018593 True cutaneous polyarteritis nodosa primary polyarteritis nodosa UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018593 MONDO:0019170 True primary polyarteritis nodosa polyarteritis nodosa UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018594 MONDO:0019170 True secondary polyarteritis nodosa polyarteritis nodosa UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018595 MONDO:0018593 True single-organ polyarteritis nodosa primary polyarteritis nodosa UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018596 MONDO:0018593 True systemic polyarteritis nodosa primary polyarteritis nodosa UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018604 MONDO:0018630 True familial colorectal cancer type X hereditary nonpolyposis colon cancer UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018605 MONDO:0019214 True disorders of pentose/polyol metabolism inborn carbohydrate metabolic disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018610 MONDO:0020377 True early-onset posterior subcapsular cataract early-onset partial cataract UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018612 MONDO:0005420 True congenital hypothyroidism hypothyroidism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0018613 MONDO:0019065 True AH amyloidosis amyloidosis UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0018614 MONDO:0020070 True undetermined early-onset epileptic encephalopathy neonatal epilepsy syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018614 MONDO:0020071 True undetermined early-onset epileptic encephalopathy infantile epilepsy syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018615 MONDO:0015530 True hemicrania continua trigeminal autonomic cephalalgia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018621 MONDO:0017594 True lymphoplasmacytic lymphoma without IgM production indolent B-cell non-Hodgkin lymphoma UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018625 MONDO:0008491 True classic stiff person syndrome stiff-person syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018626 MONDO:0000827 True paratyphoid fever salmonellosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0018628 MONDO:0017341 True HIV-associated cancer virus associated tumor UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018629 MONDO:0008491 True focal stiff limb syndrome stiff-person syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018630 MONDO:0015356 True hereditary nonpolyposis colon cancer hereditary neoplastic syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018632 MONDO:0015159 True 11q22.2q22.3 microdeletion syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018632 MONDO:0016910 True 11q22.2q22.3 microdeletion syndrome partial deletion of the long arm of chromosome 11 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018633 MONDO:0015159 True 20q11.2 microdeletion syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018633 MONDO:0016918 True 20q11.2 microdeletion syndrome partial deletion of the long arm of chromosome 20 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018635 MONDO:0005380 True idiopathic phalangeal acro-osteolysis osteonecrosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018638 MONDO:0006510 True pseudohypoaldosteronism renal tubular transport disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0018639 MONDO:0019054 True caudal regression-sirenomelia spectrum congenital limb malformation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018640 MONDO:0018882 True secondary vasculitis vasculitis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018642 MONDO:0018814 True NIK deficiency non-SCID combined immunodeficiency UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018645 MONDO:0017287 True IgG4-related sclerosing cholangitis IgG4-related disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018645 MONDO:0018646 True IgG4-related sclerosing cholangitis sclerosing cholangitis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018646 MONDO:0004789 True sclerosing cholangitis cholangitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0018647 MONDO:0018646 True secondary sclerosing cholangitis sclerosing cholangitis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018653 MONDO:0016362 True Polymerase proofreading-related adenomatous polyposis attenuated familial adenomatous polyposis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018654 MONDO:0016105 True idiopathic dropped head syndrome acquired skeletal muscle disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018656 MONDO:0100309 True tremor-ataxia-central hypomyelination syndrome hereditary ataxia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018658 MONDO:0015159 True 19p13.3 microduplication syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018658 MONDO:0018659 True 19p13.3 microduplication syndrome partial duplication of the short arm of chromosome 19 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018659 MONDO:0016937 True partial duplication of the short arm of chromosome 19 partial duplication of chromosome 19 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018662 MONDO:0015262 True autosomal recessive brachyolmia brachyolmia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018663 MONDO:0016763 True regressive spondylometaphyseal dysplasia spondylometaphyseal dysplasia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0018664 MONDO:0019512 True ectopia cordis congenital heart malformation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018666 MONDO:0005564 True hepatoblastoma embryonal neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0018677 MONDO:0002254 True visceral heterotaxy syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0018680 MONDO:0005093 True cutaneous pseudolymphoma skin disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018683 MONDO:0019269 True acquired ichthyosis ichthyosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018687 MONDO:0004976 True progressive muscular atrophy amyotrophic lateral sclerosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0018689 MONDO:0004959 True plasma cell leukemia plasma cell neoplasm UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0018690 MONDO:0002254 True Holmes-Adie syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0018667 MONDO:0002037 True pleural empyema pleural disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0018671 MONDO:0017287 True IgG4-related kidney disease IgG4-related disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018672 MONDO:0017287 True IgG4-related aortitis IgG4-related disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018673 MONDO:0017287 True IgG4-related pachymeningitis IgG4-related disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018674 MONDO:0017287 True IgG4-related submandibular gland disease IgG4-related disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018675 MONDO:0017287 True IgG4-related ophthalmic disorder IgG4-related disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018676 MONDO:0017287 True eosinophilic angiocentric fibrosis IgG4-related disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018677 MONDO:0019512 True visceral heterotaxy congenital heart malformation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018678 MONDO:0005570 True polyclonal hyperviscosity syndrome hematologic disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018679 MONDO:0017287 True primary cutaneous plasmacytosis IgG4-related disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018680 MONDO:0017287 True cutaneous pseudolymphoma IgG4-related disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018681 MONDO:0015159 True neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-hip dysplasia syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018681 MONDO:0018234 True neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-hip dysplasia syndrome dysostosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018683 MONDO:0019269 True acquired ichthyosis ichthyosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018688 MONDO:0019337 True anti-p200 pemphigoid autoimmune bullous skin disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018689 MONDO:0004959 True plasma cell leukemia plasma cell neoplasm UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0018690 MONDO:0002254 True Holmes-Adie syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0018692 MONDO:0018926 True variably protease-sensitive prionopathy human prion disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018695 MONDO:0005812 True avian influenza influenza UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0018697 MONDO:0015159 True 1p35.2 microdeletion syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018697 MONDO:0016883 True 1p35.2 microdeletion syndrome partial deletion of the short arm of chromosome 1 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018705 MONDO:0024237 True infantile-onset axonal motor and sensory neuropathy-optic atrophy-neurodegenerative syndrome inherited neurodegenerative disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018710 MONDO:0015159 True megalencephaly-severe kyphoscoliosis-overgrowth syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018710 MONDO:0019716 True megalencephaly-severe kyphoscoliosis-overgrowth syndrome overgrowth syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018711 MONDO:0015159 True intellectual disability-muscle weakness-short stature-facial dysmorphism syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018712 MONDO:0021121 True composite hemangioendothelioma hemangioendothelioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018713 MONDO:0021121 True retiform hemangioendothelioma hemangioendothelioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018714 MONDO:0021121 True primary intralymphatic angioendothelioma hemangioendothelioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018715 MONDO:0006500 True congenital hemangioma hemangioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018716 MONDO:0018715 True partially involuting congenital hemangioma congenital hemangioma UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018734 MONDO:0003110 True verrucous hemangioma skin hemangioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0018740 MONDO:0001117 True drug-induced methemoglobinemia methemoglobinemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018747 MONDO:0006541 True acquired epidermolysis bullosa epidermolysis bullosa UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0018772 MONDO:0002254 True Joubert syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0018800 MONDO:0002254 True Kallmann syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0018800 MONDO:0018555 True Kallmann syndrome hypogonadotropic hypogonadism UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0018815 MONDO:0019060 True aneurysmal bone cyst bone neoplasm UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018716 MONDO:0018715 True partially involuting congenital hemangioma congenital hemangioma UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018717 MONDO:0002013 True mixed cystic lymphatic malformation lymphangioma UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018724 MONDO:0015159 True X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018724 MONDO:0020022 True X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome central nervous system malformation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018725 MONDO:0015159 True corpus callosum agenesis-macrocephaly-hypertelorism syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018733 MONDO:0013578 True intellectual disability syndrome due to a DYRK1A point mutation DYRK1A-related intellectual disability syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018734 MONDO:0003110 True verrucous hemangioma skin hemangioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0018735 MONDO:0002013 True multifocal lymphangioendotheliomatosis-thrombocytopenia syndrome lymphangioma UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018746 MONDO:0019337 True mucous membrane pemphigoid autoimmune bullous skin disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0018747 MONDO:0006541 True acquired epidermolysis bullosa epidermolysis bullosa UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0018747 MONDO:0019337 True acquired epidermolysis bullosa autoimmune bullous skin disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0018748 MONDO:0019337 True linear IgA Dermatosis autoimmune bullous skin disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018749 MONDO:0017145 True hereditary persistence of fetal hemoglobin-beta-thalassemia syndrome beta-thalassemia and related diseases UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018756 MONDO:0007179 True euthyroid Graves orbitopathy autoimmune disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0018759 MONDO:0016106 True childhood-onset progressive contractures-limb-girdle weakness-muscle dystrophy syndrome progressive muscular dystrophy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018760 MONDO:0015159 True DeSanto-Shinawi syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018761 MONDO:0018078 True SMARCA4-deficient sarcoma of thorax soft tissue sarcoma UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018762 MONDO:0019824 True non-acquired combined pituitary hormone deficiency non-acquired pituitary hormone deficiency UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018763 MONDO:0020022 True tubulinopathy-associated dysgyria central nervous system malformation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018768 MONDO:0016168 True familial cold autoinflammatory syndrome cryopyrin-associated periodic syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018769 MONDO:0005707 True isosporiasis coccidiosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0018770 MONDO:0005308 True Jeune syndrome ciliopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0018770 MONDO:0015461 True Jeune syndrome short rib-polydactyly syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018770 MONDO:0015962 True Jeune syndrome inherited renal tubular disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018772 MONDO:0002254 True Joubert syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0018772 MONDO:0005308 True Joubert syndrome ciliopathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0018773 MONDO:0015362 True autosomal dominant distal axonal motor neuropathy-myofibrillar myopathy syndrome neuronopathy, distal hereditary motor, autosomal dominant UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018773 MONDO:0018943 True autosomal dominant distal axonal motor neuropathy-myofibrillar myopathy syndrome myofibrillar myopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018774 MONDO:0019270 True erythrokeratodermia-cardiomyopathy syndrome erythrokeratoderma UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018776 MONDO:0015626 True demyelinating hereditary motor and sensory neuropathy Charcot-Marie-Tooth disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018777 MONDO:0019280 True autosomal dominant preaxial polydactyly-upperback hypertrichosis syndrome hypertrichosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018778 MONDO:0015626 True intermediate Charcot-Marie-Tooth disease Charcot-Marie-Tooth disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0018781 MONDO:0017666 True KID syndrome diffuse palmoplantar keratoderma UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018781 MONDO:0019287 True KID syndrome ectodermal dysplasia syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0018794 MONDO:0021181 True cytosolic phospholipase-A2 alpha deficiency associated bleeding disorder inherited blood coagulation disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018800 MONDO:0018555 True Kallmann syndrome hypogonadotropic hypogonadism UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0018801 MONDO:0003150 True congenital bilateral absence of vas deferens male reproductive system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0018801 MONDO:0003847 True congenital bilateral absence of vas deferens hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0018804 MONDO:0015762 True MYO5B-related progressive familial intrahepatic cholestasis progressive familial intrahepatic cholestasis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018805 MONDO:0002887 True bile duct cyst bile duct disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0018810 MONDO:0043009 True lethal hydranencephaly-diaphragmatic hernia syndrome hereditary lethal multiple congenital anomalies/dysmorphic syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018813 MONDO:0017595 True high grade B-cell lymphoma with MYC and/ or BCL2 and/or BCL6 rearrangement aggressive B-cell non-Hodgkin lymphoma UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018814 MONDO:0015131 True non-SCID combined immunodeficiency combined immunodeficiency UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018815 MONDO:0019060 True aneurysmal bone cyst bone neoplasm UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018816 MONDO:0018646 True isolated neonatal sclerosing cholangitis sclerosing cholangitis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018818 MONDO:0016218 True facial diplegia with paresthesias Guillain-Barre syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018820 MONDO:0024237 True recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome inherited neurodegenerative disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018822 MONDO:0015159 True global developmental delay-visual anomalies-progressive cerebellar atrophy-truncal hypotonia syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018822 MONDO:0020022 True global developmental delay-visual anomalies-progressive cerebellar atrophy-truncal hypotonia syndrome central nervous system malformation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018823 MONDO:0015159 True X-linked intellectual disability-global development delay-facial dysmorphism-sacral caudal remnant syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018824 MONDO:0002922 True pyoderma gangrenosum pyoderma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0018824 MONDO:0019751 True pyoderma gangrenosum autoinflammatory syndrome UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018825 MONDO:0015159 True PYCR2-related microcephaly-progressive leukoencephalopathy multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018826 MONDO:0006702 True Lewis-Sumner syndrome chronic inflammatory demyelinating polyradiculoneuropathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018828 MONDO:0009626 True pseudo-TORCH syndrome 2 pseudo-TORCH syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0018829 MONDO:0010011 True familial schizencephaly schizencephaly UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018837 MONDO:0018640 True postinfectious vasculitis secondary vasculitis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018838 MONDO:0002320 True lissencephaly spectrum disorders congenital nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0018839 MONDO:0010011 True acquired schizencephaly schizencephaly UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018841 MONDO:0005523 True congenital bile acid synthesis defect steroid inherited metabolic disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0018842 MONDO:0015157 True primary effusion lymphoma human herpesvirus 8-related tumor UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018842 MONDO:0017343 True primary effusion lymphoma Epstein-Barr virus-associated malignant lymphoproliferative disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018842 MONDO:0018905 True primary effusion lymphoma diffuse large B-cell lymphoma UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018843 MONDO:0002714 True embryonal carcinoma of the central nervous system central nervous system cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0018843 MONDO:0005440 True embryonal carcinoma of the central nervous system embryonal carcinoma UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0018843 MONDO:0002714 True embryonal carcinoma of the central nervous system central nervous system cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0018843 MONDO:0005440 True embryonal carcinoma of the central nervous system embryonal carcinoma UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0018843 MONDO:0020574 True embryonal carcinoma of the central nervous system central nervous system nongerminomatous germ cell tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018844 MONDO:0018565 True urachal cyst congenital urachal anomaly UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018845 MONDO:0020122 True focal myositis acquired idiopathic inflammatory myopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018846 MONDO:0020040 True penile agenesis 46,XY disorder of sex development UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018848 MONDO:0017287 True IgG4-related retroperitoneal fibrosis IgG4-related disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018849 MONDO:0006999 True dentinogenesis imperfecta tooth disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0018850 MONDO:0003413 True proliferating trichilemmal cyst hair follicle neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018864 MONDO:0002052 True Kikuchi-Fujimoto disease lymphadenitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018868 MONDO:0019046 True metachromatic leukodystrophy leukodystrophy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0018868 MONDO:0019255 True metachromatic leukodystrophy sphingolipidosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0018871 MONDO:0015667 True acute myelomonocytic leukemia M4 acute myeloid leukemia by FAB classification UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018872 MONDO:0015667 True acute megakaryoblastic leukemia acute myeloid leukemia by FAB classification UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018874 MONDO:0004643 True acute myeloid leukemia myeloid leukemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0018852 MONDO:0001703 True achromatopsia color vision disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0018855 MONDO:0019268 True keratosis pilaris atrophicans epidermal disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018856 MONDO:0015301 True lichen amyloidosis primary cutaneous amyloidosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018857 MONDO:0020568 True creeping myiasis cutaneous myiasis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018858 MONDO:0004907 True Graham Little-Piccardi-Lassueur syndrome alopecia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018861 MONDO:0016387 True Zellweger-like syndrome without peroxisomal anomalies mitochondrial oxidative phosphorylation disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018865 MONDO:0017672 True striate palmoplantar keratoderma focal palmoplantar keratoderma UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018866 MONDO:0002254 True Aicardi-Goutieres syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0018866 MONDO:0003778 True Aicardi-Goutieres syndrome inborn error of immunity UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0018866 MONDO:0019046 True Aicardi-Goutieres syndrome leukodystrophy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS +MONDO:0018868 MONDO:0015547 True metachromatic leukodystrophy hereditary dementia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018868 MONDO:0019046 True metachromatic leukodystrophy leukodystrophy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0018868 MONDO:0019255 True metachromatic leukodystrophy sphingolipidosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0018868 MONDO:0020127 True metachromatic leukodystrophy hereditary peripheral neuropathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018869 MONDO:0018838 True cobblestone lissencephaly lissencephaly spectrum disorders UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018870 MONDO:0005385 True arterial calcification of infancy vascular disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0018871 MONDO:0015667 True acute myelomonocytic leukemia M4 acute myeloid leukemia by FAB classification UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018872 MONDO:0015667 True acute megakaryoblastic leukemia acute myeloid leukemia by FAB classification UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018873 MONDO:0015923 True anterior cutaneous nerve entrapment syndrome acquired peripheral neuropathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018874 MONDO:0004643 True acute myeloid leukemia myeloid leukemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0018874 MONDO:0010643 True acute myeloid leukemia acute leukemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0018875 MONDO:0015356 True Li-Fraumeni syndrome hereditary neoplastic syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018876 MONDO:0017595 True mantle cell lymphoma aggressive B-cell non-Hodgkin lymphoma UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018875 MONDO:0000426 True Li-Fraumeni syndrome autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0018875 MONDO:0015356 True Li-Fraumeni syndrome hereditary neoplastic syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018876 MONDO:0017595 True mantle cell lymphoma aggressive B-cell non-Hodgkin lymphoma UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018878 MONDO:0002254 True branchiootic syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0018878 MONDO:0015161 True branchiootic syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018879 MONDO:0004907 True lichen planopilaris alopecia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018881 MONDO:0015756 True myelodysplastic syndrome myeloid hemopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018881 MONDO:0021058 True myelodysplastic syndrome neoplastic syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018882 MONDO:0005385 True vasculitis vascular disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0018893 MONDO:0015356 True Cobb syndrome hereditary neoplastic syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018895 MONDO:0002254 True Plummer-Vinson syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018896 MONDO:0043768 True thrombotic thrombocytopenic purpura thrombocytopenic purpura UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018882 MONDO:0005385 True vasculitis vascular disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0018883 MONDO:0020087 True Berardinelli-Seip congenital lipodystrophy hereditary lipodystrophy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018884 MONDO:0019296 True Roch-Leri mesosomatous lipomatosis subcutaneous tissue disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018889 MONDO:0016195 True hyaline body myopathy qualitative or quantitative defects of beta-myosin heavy chain (MYH7) UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018889 MONDO:0019952 True hyaline body myopathy congenital myopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0018890 MONDO:0019810 True Lyell syndrome toxic epidermal necrolysis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018892 MONDO:0015405 True Wyburn-Mason syndrome cerebrofacial arteriovenous metameric syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018892 MONDO:0019293 True Wyburn-Mason syndrome skin vascular disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018893 MONDO:0019293 True Cobb syndrome skin vascular disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018894 MONDO:0020127 True distal hereditary motor neuropathy hereditary peripheral neuropathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018894 MONDO:0024257 True distal hereditary motor neuropathy hereditary motor neuron disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018895 MONDO:0016625 True Plummer-Vinson syndrome acquired deficiency anemia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018896 MONDO:0002305 True thrombotic thrombocytopenic purpura thrombophilia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0018897 MONDO:0015816 True primary cutaneous CD30+ T-cell lymphoproliferative disease indolent primary cutaneous T-cell lymphoma UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018898 MONDO:0002898 True primary cutaneous lymphoma skin cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018898 MONDO:0017207 True primary cutaneous lymphoma primary organ-specific lymphoma UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018901 MONDO:0002254 True left ventricular noncompaction syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0018901 MONDO:0005453 True left ventricular noncompaction congenital heart disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0018902 MONDO:0000385 True hepatocellular adenoma benign digestive system neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0018902 MONDO:0004972 True hepatocellular adenoma adenoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0018902 MONDO:0024477 True hepatocellular adenoma liver and intrahepatic bile duct neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0018898 MONDO:0017207 True primary cutaneous lymphoma primary organ-specific lymphoma UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018899 MONDO:0024237 True posterior cortical atrophy inherited neurodegenerative disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018901 MONDO:0000591 True left ventricular noncompaction intrinsic cardiomyopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0018902 MONDO:0000385 True hepatocellular adenoma benign digestive system neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0018902 MONDO:0000627 True hepatocellular adenoma benign endocrine neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0018902 MONDO:0004972 True hepatocellular adenoma adenoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0018902 MONDO:0024477 True hepatocellular adenoma liver and intrahepatic bile duct neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0018903 MONDO:0005707 True sarcocystosis coccidiosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0018905 MONDO:0004949 True diffuse large B-cell lymphoma neoplasm of mature B-cells UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0018905 MONDO:0017595 True diffuse large B-cell lymphoma aggressive B-cell non-Hodgkin lymphoma UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018906 MONDO:0004949 True follicular lymphoma neoplasm of mature B-cells UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0018906 MONDO:0017594 True follicular lymphoma indolent B-cell non-Hodgkin lymphoma UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018907 MONDO:0000628 True craniopharyngioma central nervous system organ benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0018907 MONDO:0002532 True craniopharyngioma squamous cell neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0018907 MONDO:0002720 True craniopharyngioma sella turcica neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0018907 MONDO:0036976 True craniopharyngioma benign epithelial neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018908 MONDO:0005062 True non-Hodgkin lymphoma lymphoma UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0018912 MONDO:0002254 True Cushing syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018919 MONDO:0002254 True McCune-Albright syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0018921 MONDO:0002254 True Meckel syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0018927 MONDO:0002254 True SUNCT syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018936 MONDO:0000631 True osteoblastoma bone benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0018937 MONDO:0002254 True mucopolysaccharidosis type 3 syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0018937 MONDO:0019249 True mucopolysaccharidosis type 3 mucopolysaccharidosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0018938 MONDO:0002254 True mucopolysaccharidosis type 4 syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0018938 MONDO:0019249 True mucopolysaccharidosis type 4 mucopolysaccharidosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0018940 MONDO:0002254 True congenital myasthenic syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0018944 MONDO:0002872 True gestational trophoblastic neoplasm trophoblastic neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0018908 MONDO:0005062 True non-Hodgkin lymphoma lymphoma UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0018910 MONDO:0018134 True oculocutaneous albinism disorder of melanin metabolism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018910 MONDO:0019290 True oculocutaneous albinism hypopigmentation of the skin UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018911 MONDO:0015967 True maturity-onset diabetes of the young monogenic diabetes UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018914 MONDO:0004907 True hypotrichosis simplex alopecia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018919 MONDO:0002254 True McCune-Albright syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0018919 MONDO:0018230 True McCune-Albright syndrome skeletal dysplasia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018920 MONDO:0016338 True peripartum cardiomyopathy non-familial dilated cardiomyopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018921 MONDO:0002254 True Meckel syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0018921 MONDO:0005308 True Meckel syndrome ciliopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0018921 MONDO:0043009 True Meckel syndrome hereditary lethal multiple congenital anomalies/dysmorphic syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018922 MONDO:0016450 True cold agglutinin disease autoimmune hemolytic anemia, cold type UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018923 MONDO:0022760 True 22q11.2 deletion syndrome chromosome 22q deletion UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018924 MONDO:0016073 True microphthalmia, Lenz type syndromic microphthalmia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018927 MONDO:0015530 True SUNCT syndrome trigeminal autonomic cephalalgia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018929 MONDO:0018381 True medial condensing osteitis of the clavicle osteochondrosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018931 MONDO:0031422 True mucolipidosis type III, alpha/beta familial mucolipidosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0018931 MONDO:0800088 True mucolipidosis type III, alpha/beta lysosomal storage disease with skeletal involvement UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018932 MONDO:0016330 True cirrhotic cardiomyopathy non-familial hypertrophic cardiomyopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018932 MONDO:0016338 True cirrhotic cardiomyopathy non-familial dilated cardiomyopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018935 MONDO:0004948 True hairy cell leukemia B-cell chronic lymphocytic leukemia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0018936 MONDO:0000631 True osteoblastoma bone benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0018937 MONDO:0019249 True mucopolysaccharidosis type 3 mucopolysaccharidosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0018938 MONDO:0019249 True mucopolysaccharidosis type 4 mucopolysaccharidosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0018939 MONDO:0019950 True muscle-eye-brain disease congenital muscular dystrophy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018940 MONDO:0020124 True congenital myasthenic syndrome neuromuscular junction disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0018941 MONDO:0020568 True furuncular myiasis cutaneous myiasis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018942 MONDO:0016105 True macrophagic myofasciitis acquired skeletal muscle disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018944 MONDO:0002872 True gestational trophoblastic neoplasm trophoblastic neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0018944 MONDO:0021148 True gestational trophoblastic neoplasm female reproductive system neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018944 MONDO:0024575 True gestational trophoblastic neoplasm pregnancy disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018949 MONDO:0020121 True distal myopathy muscular dystrophy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0018954 MONDO:0002254 True Loeys-Dietz syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0018945 MONDO:0016987 True McLeod neuroacanthocytosis syndrome neuroacanthocytosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0018946 MONDO:0020022 True rhombencephalosynapsis central nervous system malformation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018947 MONDO:0019952 True centronuclear myopathy congenital myopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED +MONDO:0018948 MONDO:0016197 True multiminicore myopathy qualitative or quantitative defects of selenoprotein N1 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018949 MONDO:0020121 True distal myopathy muscular dystrophy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0018950 MONDO:0019215 True 3-methylcrotonyl-CoA carboxylase deficiency classic organic aciduria UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018951 MONDO:0016108 True distal myopathy with vocal cord weakness autosomal dominant distal myopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018953 MONDO:0018075 True parietal foramina neural tube defect UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0018953 MONDO:0018230 True parietal foramina skeletal dysplasia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018954 MONDO:0000426 True Loeys-Dietz syndrome autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0018954 MONDO:0002254 True Loeys-Dietz syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0018954 MONDO:0017310 True Loeys-Dietz syndrome Marfan and Marfan-related disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018955 MONDO:0021098 True recurrent respiratory papillomatosis papillomatosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018961 MONDO:0005105 True familial melanoma melanoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0018963 MONDO:0001117 True hereditary methemoglobinemia methemoglobinemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018965 MONDO:0002254 True Alport syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0018968 MONDO:0018075 True iniencephaly neural tube defect UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018969 MONDO:0002320 True craniorachischisis congenital nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018975 MONDO:0021060 True neurofibromatosis type 1 RASopathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0018975 MONDO:0021061 True neurofibromatosis type 1 neurofibromatosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0018983 MONDO:0002254 True Tolosa-Hunt syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0018984 MONDO:0005664 True Oroya fever bartonellosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0018988 MONDO:0002254 True iridocorneal endothelial syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018989 MONDO:0002356 True recurrent acute pancreatitis pancreas disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018957 MONDO:0015923 True pudendal neuralgia acquired peripheral neuropathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018959 MONDO:0016120 True potassium-aggravated myotonia myotonic syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018961 MONDO:0005105 True familial melanoma melanoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0018963 MONDO:0019050 True hereditary methemoglobinemia inherited hemoglobinopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018964 MONDO:0016624 True homocystinuria without methylmalonic aciduria inherited deficiency anemia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018964 MONDO:0019220 True homocystinuria without methylmalonic aciduria inborn disorder of cobalamin metabolism and transport UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018965 MONDO:0002254 True Alport syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0018967 MONDO:0010615 True short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia isolated growth hormone deficiency type III UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018968 MONDO:0018075 True iniencephaly neural tube defect UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018974 MONDO:0019337 True paraneoplastic pemphigus autoimmune bullous skin disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0018975 MONDO:0019755 True neurofibromatosis type 1 developmental defect during embryogenesis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018975 MONDO:0021060 True neurofibromatosis type 1 RASopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0018975 MONDO:0021061 True neurofibromatosis type 1 neurofibromatosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0018977 MONDO:0015923 True polyneuropathy associated with IgM monoclonal gammapathy with anti-MAG acquired peripheral neuropathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018978 MONDO:0017287 True IgG4-related mediastinitis IgG4-related disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018979 MONDO:0015923 True multifocal motor neuropathy acquired peripheral neuropathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018980 MONDO:0018237 True acrofacial dysostosis, Kennedy-Teebi type acrofacial dysostosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018981 MONDO:0020070 True benign idiopathic neonatal seizures neonatal epilepsy syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018983 MONDO:0001584 True Tolosa-Hunt syndrome ocular motility disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0018984 MONDO:0005664 True Oroya fever bartonellosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0018992 MONDO:0017287 True IgG4-related thyroid disease IgG4-related disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0018993 MONDO:0015626 True Charcot-Marie-Tooth disease type 2 Charcot-Marie-Tooth disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0018994 MONDO:0015626 True Charcot-Marie-Tooth disease type X Charcot-Marie-Tooth disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0018995 MONDO:0015626 True Charcot-Marie-Tooth disease type 4 Charcot-Marie-Tooth disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0018996 MONDO:0020127 True spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 hereditary peripheral neuropathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018996 MONDO:0020771 True spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 spinocerebellar ataxia, autosomal recessive, with axonal neuropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0018997 MONDO:0002254 True Noonan syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0019002 MONDO:0016729 True Lhermitte-Duclos disease mixed neuronal-glial tumor UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019003 MONDO:0017169 True multiple endocrine neoplasia type 2 multiple endocrine neoplasia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019004 MONDO:0002367 True kidney Wilms tumor kidney cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0018997 MONDO:0002254 True Noonan syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0018997 MONDO:0020297 True Noonan syndrome Noonan syndrome and Noonan-related syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018998 MONDO:0019118 True Leber congenital amaurosis inherited retinal dystrophy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0018999 MONDO:0017773 True LCAT deficiency hypoalphalipoproteinemia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019002 MONDO:0016729 True Lhermitte-Duclos disease mixed neuronal-glial tumor UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019002 MONDO:0020022 True Lhermitte-Duclos disease central nervous system malformation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019003 MONDO:0015075 True multiple endocrine neoplasia type 2 thyroid gland carcinoma UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019003 MONDO:0017169 True multiple endocrine neoplasia type 2 multiple endocrine neoplasia UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019004 MONDO:0002367 True kidney Wilms tumor kidney cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0019004 MONDO:0006058 True kidney Wilms tumor Wilms tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019010 MONDO:0007834 True congenital isolated hyperinsulinism islet cell adenomatosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019018 MONDO:0004994 True Tako-tsubo cardiomyopathy cardiomyopathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019023 MONDO:0007950 True cutaneous mastocytosis mastocytosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0019024 MONDO:0007950 True mast cell sarcoma mastocytosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0019005 MONDO:0006025 True nephronophthisis autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0019008 MONDO:0017290 True benign recurrent intrahepatic cholestasis familial intrahepatic cholestasis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019008 MONDO:0017755 True benign recurrent intrahepatic cholestasis inborn disorder of bilirubin metabolism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019009 MONDO:0017094 True isolated focal cortical dysplasia cerebral cortical dysplasia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019010 MONDO:0017182 True congenital isolated hyperinsulinism familial hyperinsulinism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019011 MONDO:0015626 True Charcot-Marie-Tooth disease type 1 Charcot-Marie-Tooth disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0019016 MONDO:0009637 True maternally-inherited progressive external ophthalmoplegia inborn mitochondrial myopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019016 MONDO:0016387 True maternally-inherited progressive external ophthalmoplegia mitochondrial oxidative phosphorylation disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019018 MONDO:0004994 True Tako-tsubo cardiomyopathy cardiomyopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019019 MONDO:0005516 True osteogenesis imperfecta osteochondrodysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0019023 MONDO:0007950 True cutaneous mastocytosis mastocytosis UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0019024 MONDO:0005089 True mast cell sarcoma sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0019024 MONDO:0007950 True mast cell sarcoma mastocytosis UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0019025 MONDO:0003079 True extracutaneous mastocytoma mastocytoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019026 MONDO:0017198 True autosomal recessive osteopetrosis osteopetrosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019035 MONDO:0002116 True pancreatoblastoma malignant exocrine pancreas neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0019037 MONDO:0002254 True progressive supranuclear palsy syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0019037 MONDO:0005559 True progressive supranuclear palsy neurodegenerative disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0019052 MONDO:0005066 True inborn errors of metabolism metabolic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0019053 MONDO:0019052 True peroxisomal disease inborn errors of metabolism UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0019025 MONDO:0016586 True extracutaneous mastocytoma systemic mastocytosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0019026 MONDO:0017198 True autosomal recessive osteopetrosis osteopetrosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019031 MONDO:0019403 True thrombocytopenia with congenital dyserythropoietic anemia congenital dyserythropoietic anemia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019033 MONDO:0021154 True primary cutis verticis gyrata dermis disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019035 MONDO:0002116 True pancreatoblastoma malignant exocrine pancreas neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0019037 MONDO:0005395 True progressive supranuclear palsy movement disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0019037 MONDO:0020257 True progressive supranuclear palsy supranuclear oculomotor palsy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019042 MONDO:0019755 True multiple congenital anomalies/dysmorphic syndrome developmental defect during embryogenesis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019052 MONDO:0003847 True inborn errors of metabolism hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0019052 MONDO:0005066 True inborn errors of metabolism metabolic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0019053 MONDO:0019052 True peroxisomal disease inborn errors of metabolism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0019054 MONDO:0019755 True congenital limb malformation developmental defect during embryogenesis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019056 MONDO:0005071 True neuromuscular disease nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0019064 MONDO:0003757 True hereditary spastic paraplegia paraplegia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0019064 MONDO:0024237 True hereditary spastic paraplegia inherited neurodegenerative disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019067 MONDO:0018170 True idiopathic steroid-sensitive nephrotic syndrome idiopathic nephrotic syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019068 MONDO:0019722 True congenital membranous nephropathy due to maternal anti-neutral endopeptidase alloimmunization glomerular disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019071 MONDO:0019287 True pure hair and nail ectodermal dysplasia ectodermal dysplasia syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0019072 MONDO:0001751 True intrahepatic cholestasis cholestasis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0019074 MONDO:0011119 True bilateral acute depigmentation of the iris iridogoniodysgenesis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019077 MONDO:0002093 True warty dyskeratoma acanthoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019078 MONDO:0003847 True Ritscher-Schinzel syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0019078 MONDO:0015159 True Ritscher-Schinzel syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019078 MONDO:0020022 True Ritscher-Schinzel syndrome central nervous system malformation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019079 MONDO:0024257 True proximal spinal muscular atrophy hereditary motor neuron disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019080 MONDO:0004907 True alopecia totalis alopecia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019082 MONDO:0019337 True bullous pemphigoid autoimmune bullous skin disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0019086 MONDO:0006181 True carcinoma of esophagus digestive system carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0019086 MONDO:0007576 True carcinoma of esophagus esophageal cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0019091 MONDO:0005087 True bronchopulmonary dysplasia respiratory system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0019104 MONDO:0002254 True Sandifer syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019121 MONDO:0005249 True pneumocystosis pneumonia UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0019124 MONDO:0043494 True microscopic polyangiitis arteritis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019134 MONDO:0002682 True central neurocytoma cerebral ventricle cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0019086 MONDO:0007576 True carcinoma of esophagus esophageal cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0019091 MONDO:0005087 True bronchopulmonary dysplasia respiratory system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0019094 MONDO:0016511 True congenital Epstein-Barr virus infection infectious embryofetopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019095 MONDO:0000314 True plague primary bacterial infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0019100 MONDO:0005071 True neuromyelitis optica nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0019100 MONDO:0044685 True neuromyelitis optica autoimmune/inflammatory optic neuropathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019107 MONDO:0020102 True Rh deficiency syndrome hereditary stomatocytosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019109 MONDO:0015923 True CANOMAD syndrome acquired peripheral neuropathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019112 MONDO:0018215 True cancer-associated retinopathy paraneoplastic neurologic syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019113 MONDO:0016058 True benign paroxysmal torticollis of infancy paroxysmal dystonia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019115 MONDO:0019182 True obesity due to melanocortin 4 receptor deficiency inherited obesity UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019119 MONDO:0019056 True muscular channelopathy neuromuscular disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019120 MONDO:0019278 True pili bifurcati hair anomaly UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019121 MONDO:0002312 True pneumocystosis opportunistic mycosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0019122 MONDO:0015927 True idiopathic acute eosinophilic pneumonia idiopathic eosinophilic pneumonia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019124 MONDO:0015492 True microscopic polyangiitis anti-neutrophil cytoplasmic antibody-associated vasculitis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019125 MONDO:0002342 True relapsing polychondritis chondromalacia UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0019127 MONDO:0020122 True polymyositis acquired idiopathic inflammatory myopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019131 MONDO:0015929 True ossification anomalies-psychomotor developmental delay syndrome thoracic malformation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019132 MONDO:0020022 True spinal muscular atrophy-Dandy-Walker malformation-cataracts syndrome central nervous system malformation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019133 MONDO:0015159 True visceral neuropathy-brain anomalies-facial dysmorphism-developmental delay syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019134 MONDO:0002682 True central neurocytoma cerebral ventricle cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0019134 MONDO:0016729 True central neurocytoma mixed neuronal-glial tumor UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019136 MONDO:0002312 True Zygomycosis opportunistic mycosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0019137 MONDO:0024361 True non-24-hour sleep-wake syndrome circadian rhythm sleep disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019157 MONDO:0018881 True myelodysplastic syndrome with ring sideroblasts myelodysplastic syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019170 MONDO:0043494 True polyarteritis nodosa arteritis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019173 MONDO:0005108 True rabies viral infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0019175 MONDO:0019297 True primary lymphedema lymphedema UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019180 MONDO:0001576 True hereditary hemorrhagic telangiectasia telangiectasis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0019187 MONDO:0002254 True Axenfeld-Rieger syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0019193 MONDO:0027766 True acquired generalized lipodystrophy generalized lipodystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0019194 MONDO:0006573 True localized lipodystrophy lipodystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019202 MONDO:0018078 True myxofibrosarcoma soft tissue sarcoma UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019203 MONDO:0002429 True acute interstitial pneumonia idiopathic interstitial pneumonia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0019209 MONDO:0020601 True Japanese encephalitis mosquito-borne viral encephalitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019141 MONDO:0006602 True porokeratosis of Mibelli porokeratosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019142 MONDO:0015951 True inherited porphyria hereditary photodermatosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019142 MONDO:0017754 True inherited porphyria inborn disorder of porphyrin metabolism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019143 MONDO:0004664 True angiostrongyliasis helminthiasis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0019144 MONDO:0002304 True hereditary thrombophilia due to congenital protein S deficiency protein S deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0019146 MONDO:0015979 True inherited susceptibility to mycobacterial diseases hereditary predisposition to infections UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019147 MONDO:0002875 True myiasis parasitic ectoparasitic infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0019148 MONDO:0800449 True Wolman disease lysosomal acid lipase deficiency UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0019149 MONDO:0800449 True cholesteryl ester storage disease lysosomal acid lipase deficiency UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0019151 MONDO:0019118 True oligocone trichromacy inherited retinal dystrophy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019152 MONDO:0019118 True Oguchi disease inherited retinal dystrophy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019153 MONDO:0015159 True brain malformation-congenital heart disease-postaxial polydactyly syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019154 MONDO:0020040 True androgen insensitivity syndrome 46,XY disorder of sex development UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019155 MONDO:0005151 True Leydig cell hypoplasia endocrine system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0019157 MONDO:0015194 True myelodysplastic syndrome with ring sideroblasts sideroblastic anemia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019157 MONDO:0018881 True myelodysplastic syndrome with ring sideroblasts myelodysplastic syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019158 MONDO:0016345 True tropical endomyocardial fibrosis non-familial restrictive cardiomyopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019159 MONDO:0016345 True Loeffler endocarditis non-familial restrictive cardiomyopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019161 MONDO:0015962 True pseudohypoaldosteronism type 1 inherited renal tubular disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019164 MONDO:0016905 True 6q terminal deletion syndrome partial deletion of the long arm of chromosome 6 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019167 MONDO:0006794 True immunoglobulin A vasculitis hypersensitivity vasculitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0019167 MONDO:0015491 True immunoglobulin A vasculitis immune complex mediated vasculitis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019169 MONDO:0016789 True pyruvate dehydrogenase deficiency pyruvate metabolism disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019169 MONDO:0019214 True pyruvate dehydrogenase deficiency inborn carbohydrate metabolic disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0019169 MONDO:0020127 True pyruvate dehydrogenase deficiency hereditary peripheral neuropathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019172 MONDO:0002289 True aniridia iris disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0019173 MONDO:0005108 True rabies viral infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0019173 MONDO:0020010 True rabies infectious disorder of the nervous system UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019177 MONDO:0019046 True odontoleukodystrophy leukodystrophy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019178 MONDO:0015161 True auricular abnormalities-cleft lip with or without cleft palate-ocular abnormalities syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019179 MONDO:0016908 True monosomy 9q22.3 partial monosomy of the long arm of chromosome 9 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019180 MONDO:0000426 True hereditary hemorrhagic telangiectasia autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0019180 MONDO:0016231 True hereditary hemorrhagic telangiectasia capillary malformation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019180 MONDO:0019755 True hereditary hemorrhagic telangiectasia developmental defect during embryogenesis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019181 MONDO:0000509 True non-syndromic X-linked intellectual disability non-syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0019186 MONDO:0000314 True Q fever primary bacterial infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0019187 MONDO:0003847 True Axenfeld-Rieger syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0019187 MONDO:0015161 True Axenfeld-Rieger syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019188 MONDO:0015159 True Rubinstein-Taybi syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019188 MONDO:0018234 True Rubinstein-Taybi syndrome dysostosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0019188 MONDO:0019054 True Rubinstein-Taybi syndrome congenital limb malformation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019189 MONDO:0019052 True inborn disorder of amino acid and other organic acid metabolism inborn errors of metabolism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019190 MONDO:0017380 True juvenile polyposis of infancy juvenile polyposis syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019192 MONDO:0020088 True AKT2-related familial partial lipodystrophy familial partial lipodystrophy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019193 MONDO:0020089 True acquired generalized lipodystrophy acquired lipodystrophy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019193 MONDO:0027766 True acquired generalized lipodystrophy generalized lipodystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0019195 MONDO:0016112 True hereditary inclusion body myopathy-joint contractures-ophthalmoplegia syndrome hereditary inclusion-body myopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019197 MONDO:0019253 True folinic acid-responsive seizures metabolic disease involving other neurotransmitter deficiency UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019198 MONDO:0017255 True sympathetic ophthalmia panuveitis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0019198 MONDO:0017634 True sympathetic ophthalmia non-infectious anterior uveitis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019200 MONDO:0019118 True retinitis pigmentosa inherited retinal dystrophy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0019202 MONDO:0018078 True myxofibrosarcoma soft tissue sarcoma UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019203 MONDO:0002429 True acute interstitial pneumonia idiopathic interstitial pneumonia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0019204 MONDO:0002429 True respiratory bronchiolitis-interstitial lung disease syndrome idiopathic interstitial pneumonia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019205 MONDO:0019287 True trichodysplasia-amelogenesis imperfecta syndrome ectodermal dysplasia syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019210 MONDO:0002120 True cutaneous neuroendocrine carcinoma neuroendocrine carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019210 MONDO:0002656 True cutaneous neuroendocrine carcinoma skin carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019210 MONDO:0003363 True cutaneous neuroendocrine carcinoma malignant dermis tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019234 MONDO:0019046 True peroxisome biogenesis disorder leukodystrophy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS -MONDO:0019249 MONDO:0002561 True mucopolysaccharidosis lysosomal storage disease UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0019249 MONDO:0019214 True mucopolysaccharidosis inborn carbohydrate metabolic disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0019287 MONDO:0002254 True ectodermal dysplasia syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0019288 MONDO:0005093 True skin pigmentation disorder skin disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0019293 MONDO:0005093 True skin vascular disease skin disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0019293 MONDO:0005385 True skin vascular disease vascular disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0019315 MONDO:0019023 True diffuse cutaneous mastocytosis cutaneous mastocytosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0019316 MONDO:0019023 True maculopapular cutaneous mastocytosis cutaneous mastocytosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0019210 MONDO:0017341 True cutaneous neuroendocrine carcinoma virus associated tumor UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019211 MONDO:0019284 True isolated congenital anonychia inherited isolated nail anomaly UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019212 MONDO:0006602 True disseminated superficial actinic porokeratosis porokeratosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019214 MONDO:0019052 True inborn carbohydrate metabolic disorder inborn errors of metabolism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0019215 MONDO:0000688 True classic organic aciduria inborn organic aciduria UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019218 MONDO:0019256 True inborn disorder of bile acid synthesis sterol metabolism disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019219 MONDO:0019250 True inborn disorder of neurotransmitter metabolism and transport inborn disorder of biogenic amine metabolism and transport UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019220 MONDO:0017758 True inborn disorder of cobalamin metabolism and transport disorder of vitamin and non-protein cofactor absorption and transport UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019222 MONDO:0019189 True inborn disorder of methionine cycle and sulfur amino acid metabolism inborn disorder of amino acid and other organic acid metabolism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019223 MONDO:0019243 True disorder of fatty acid and ketone body metabolism inborn disorder of energy metabolism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019225 MONDO:0019214 True disorder of gluconeogenesis inborn carbohydrate metabolic disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019226 MONDO:0017706 True glucose transport disorder disorder of carbohydrate transmembrane transport and absorption UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019228 MONDO:0004736 True inborn disorder of histidine metabolism inborn disorder of amino acid metabolism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0019228 MONDO:0019189 True inborn disorder of histidine metabolism inborn disorder of amino acid and other organic acid metabolism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019229 MONDO:0019223 True inborn disorder of ketolysis disorder of fatty acid and ketone body metabolism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019230 MONDO:0019189 True inborn disorder of ornithine or proline metabolism inborn disorder of amino acid and other organic acid metabolism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019231 MONDO:0018605 True inborn disorder of pentose phosphate metabolism disorders of pentose/polyol metabolism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019234 MONDO:0019046 True peroxisome biogenesis disorder leukodystrophy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS +MONDO:0019234 MONDO:0019053 True peroxisome biogenesis disorder peroxisomal disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0019234 MONDO:0020127 True peroxisome biogenesis disorder hereditary peripheral neuropathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019236 MONDO:0019254 True inborn disorder of purine metabolism inborn disorder of purine or pyrimidine metabolism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019237 MONDO:0019250 True inborn disorder of pyridoxine metabolism inborn disorder of biogenic amine metabolism and transport UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019238 MONDO:0019254 True inborn disorder of pyrimidine metabolism inborn disorder of purine or pyrimidine metabolism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0019239 MONDO:0019189 True inborn disorder of serine family metabolism inborn disorder of amino acid and other organic acid metabolism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019240 MONDO:0015327 True sterol biosynthesis disorder developmental anomaly of metabolic origin UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019240 MONDO:0019256 True sterol biosynthesis disorder sterol metabolism disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019241 MONDO:0019189 True inborn disorder of the gamma-glutamyl cycle inborn disorder of amino acid and other organic acid metabolism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019242 MONDO:0019189 True inborn disorder of branched-chain amino acid metabolism inborn disorder of amino acid and other organic acid metabolism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019243 MONDO:0019052 True inborn disorder of energy metabolism inborn errors of metabolism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019245 MONDO:0002561 True lysosomal lipid storage disorder lysosomal storage disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0019246 MONDO:0002561 True inborn disorder of lysosomal amino acid transport lysosomal storage disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019248 MONDO:0015327 True mucolipidosis developmental anomaly of metabolic origin UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019248 MONDO:0017731 True mucolipidosis glycoproteinosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019249 MONDO:0002561 True mucopolysaccharidosis lysosomal storage disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0019249 MONDO:0015327 True mucopolysaccharidosis developmental anomaly of metabolic origin UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019250 MONDO:0019052 True inborn disorder of biogenic amine metabolism and transport inborn errors of metabolism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019251 MONDO:0015327 True oligosaccharidosis developmental anomaly of metabolic origin UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019251 MONDO:0017731 True oligosaccharidosis glycoproteinosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019253 MONDO:0019250 True metabolic disease involving other neurotransmitter deficiency inborn disorder of biogenic amine metabolism and transport UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019254 MONDO:0019052 True inborn disorder of purine or pyrimidine metabolism inborn errors of metabolism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0019255 MONDO:0019245 True sphingolipidosis lysosomal lipid storage disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0019256 MONDO:0002525 True sterol metabolism disorder inherited lipid metabolism disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019257 MONDO:0006507 True hemochromatosis type 2 hereditary hemochromatosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0019258 MONDO:0009861 True mild phenylketonuria phenylketonuria UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019259 MONDO:0009861 True classic phenylketonuria phenylketonuria UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019260 MONDO:0016295 True adult neuronal ceroid lipofuscinosis neuronal ceroid lipofuscinosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019260 MONDO:0020143 True adult neuronal ceroid lipofuscinosis cerebral lipidosis with dementia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019261 MONDO:0016295 True infantile neuronal ceroid lipofuscinosis neuronal ceroid lipofuscinosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019261 MONDO:0020143 True infantile neuronal ceroid lipofuscinosis cerebral lipidosis with dementia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019262 MONDO:0016295 True juvenile neuronal ceroid lipofuscinosis neuronal ceroid lipofuscinosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019262 MONDO:0020143 True juvenile neuronal ceroid lipofuscinosis cerebral lipidosis with dementia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019264 MONDO:0017779 True alpha-N-acetylgalactosaminidase deficiency type 3 alpha-N-acetylgalactosaminidase deficiency UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0019265 MONDO:0017186 True diazoxide-resistant focal hyperinsulinism diazoxide-resistant hyperinsulinism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019266 MONDO:0019751 True SAPHO syndrome autoinflammatory syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019267 MONDO:0009612 True vitamin B12-unresponsive methylmalonic acidemia type mut- methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019269 MONDO:0019268 True ichthyosis epidermal disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019270 MONDO:0019268 True erythrokeratoderma epidermal disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019272 MONDO:0019268 True hereditary palmoplantar keratoderma epidermal disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019276 MONDO:0019268 True inherited epidermolysis bullosa epidermal disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019280 MONDO:0002917 True hypertrichosis disorder of pilosebaceous unit UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0019284 MONDO:0002884 True inherited isolated nail anomaly nail disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0019287 MONDO:0002254 True ectodermal dysplasia syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0019287 MONDO:0021026 True ectodermal dysplasia syndrome hereditary epidermal appendage anomaly UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019288 MONDO:0005093 True skin pigmentation disorder skin disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0019289 MONDO:0019288 True hyperpigmentation of the skin skin pigmentation disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019290 MONDO:0019288 True hypopigmentation of the skin skin pigmentation disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019293 MONDO:0005093 True skin vascular disease skin disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0019297 MONDO:0005833 True lymphedema lymphatic system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0019306 MONDO:0017265 True congenital non-bullous ichthyosiform erythroderma autosomal recessive congenital ichthyosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019308 MONDO:0017612 True junctional epidermolysis bullosa inversa junctional epidermolysis bullosa UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019309 MONDO:0017612 True late-onset junctional epidermolysis bullosa junctional epidermolysis bullosa UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019312 MONDO:0017305 True Hermansky-Pudlak syndrome syndromic oculocutaneous albinism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019312 MONDO:0017739 True Hermansky-Pudlak syndrome disorder of lysosomal-related organelles UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019312 MONDO:0021181 True Hermansky-Pudlak syndrome inherited blood coagulation disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019314 MONDO:0019023 True cutaneous mastocytoma cutaneous mastocytosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019315 MONDO:0019023 True diffuse cutaneous mastocytosis cutaneous mastocytosis UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0019316 MONDO:0019023 True maculopapular cutaneous mastocytosis cutaneous mastocytosis UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0019318 MONDO:0016831 True inflammatory linear verrucous epidermal nevus linear verrucous nevus syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019319 MONDO:0016831 True verrucous nevus linear verrucous nevus syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019320 MONDO:0016831 True acanthokeratolytic verrucous nevus linear verrucous nevus syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019321 MONDO:0021106 True atypical Werner syndrome laminopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019323 MONDO:0006594 True pemphigus erythematosus pemphigus SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019328 MONDO:0002013 True macrocystic lymphatic malformation lymphangioma UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019336 MONDO:0021055 True Gardner syndrome classic familial adenomatous polyposis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019340 MONDO:0005554 True scleroderma rheumatic disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0019340 MONDO:0007179 True scleroderma autoimmune disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0019342 MONDO:0002254 True Seckel syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0019349 MONDO:0002254 True Sotos syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0019350 MONDO:0003689 True hereditary spherocytosis familial hemolytic anemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0019354 MONDO:0002254 True Stickler syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0019368 MONDO:0006858 True florid cemento-osseous dysplasia mouth disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019324 MONDO:0006594 True pemphigus foliaceus pemphigus UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0019325 MONDO:0017318 True phakomatosis cesioflammea phakomatosis pigmentovascularis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019326 MONDO:0017318 True phakomatosis cesiomarmorata phakomatosis pigmentovascularis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019327 MONDO:0017318 True phakomatosis spilorosea phakomatosis pigmentovascularis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019328 MONDO:0002013 True macrocystic lymphatic malformation lymphangioma UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019329 MONDO:0002013 True microcystic lymphatic malformation lymphangioma UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019330 MONDO:0019278 True pili gemini hair anomaly UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019332 MONDO:0017675 True punctate palmoplantar keratoderma type 1 punctate palmoplantar keratoderma UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019333 MONDO:0015625 True autosomal recessive hyperinsulinism due to SUR1 deficiency diazoxide-resistant diffuse hyperinsulinism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019334 MONDO:0015625 True autosomal recessive hyperinsulinism due to Kir6.2 deficiency diazoxide-resistant diffuse hyperinsulinism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019335 MONDO:0009861 True mild hyperphenylalaninemia phenylketonuria UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019336 MONDO:0021055 True Gardner syndrome classic familial adenomatous polyposis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019337 MONDO:0002406 True autoimmune bullous skin disease dermatitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0019338 MONDO:0019751 True sarcoidosis autoinflammatory syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019340 MONDO:0005554 True scleroderma rheumatic disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0019342 MONDO:0002254 True Seckel syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0019342 MONDO:0006025 True Seckel syndrome autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0019344 MONDO:0020122 True antisynthetase syndrome acquired idiopathic inflammatory myopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019345 MONDO:0000314 True shigellosis primary bacterial infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0019346 MONDO:0017734 True sialidosis type 1 sialidosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019347 MONDO:0015947 True peeling skin syndrome inherited ichthyosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019349 MONDO:0002254 True Sotos syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0019349 MONDO:0016904 True Sotos syndrome partial deletion of the long arm of chromosome 5 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019349 MONDO:0018230 True Sotos syndrome skeletal dysplasia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019350 MONDO:0003689 True hereditary spherocytosis familial hemolytic anemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0019353 MONDO:0005150 True Stargardt disease age-related macular degeneration UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0019354 MONDO:0002254 True Stickler syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0019355 MONDO:0005578 True adult-onset Still disease arthritic joint disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0019356 MONDO:0019755 True urogenital tract malformation developmental defect during embryogenesis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019358 MONDO:0015327 True encephalopathy due to sulfite oxidase deficiency developmental anomaly of metabolic origin UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019358 MONDO:0019222 True encephalopathy due to sulfite oxidase deficiency inborn disorder of methionine cycle and sulfur amino acid metabolism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019359 MONDO:0001195 True Rocky mountain spotted fever spotted fever UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0019360 MONDO:0001195 True rickettsialpox spotted fever UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0019362 MONDO:0001246 True epidemic louse-borne typhus typhus UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0019364 MONDO:0001195 True pseudotyphus of California spotted fever UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019365 MONDO:0001246 True scrub typhus typhus UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0019366 MONDO:0019246 True free sialic acid storage disease inborn disorder of lysosomal amino acid transport UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019371 MONDO:0021107 True narcolepsy without cataplexy narcolepsy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019372 MONDO:0019060 True solitary bone cyst bone neoplasm UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019373 MONDO:0006974 True desmoplastic small round cell tumor small cell sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0019373 MONDO:0018078 True desmoplastic small round cell tumor soft tissue sarcoma UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019384 MONDO:0006009 True encephalitis lethargica viral encephalitis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0019390 MONDO:0002254 True Susac syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019390 MONDO:0007179 True Susac syndrome autoimmune disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019391 MONDO:0003225 True Fanconi anemia bone marrow disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0019391 MONDO:0021190 True Fanconi anemia DNA repair disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019373 MONDO:0018078 True desmoplastic small round cell tumor soft tissue sarcoma UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019374 MONDO:0020043 True CAMOS syndrome autosomal recessive congenital cerebellar ataxia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019385 MONDO:0020640 True steroid-responsive encephalopathy associated with autoimmune thyroiditis autoimmune encephalitis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019387 MONDO:0015161 True macrostomia-preauricular tags-external ophthalmoplegia syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019388 MONDO:0015161 True pelvis syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019391 MONDO:0001713 True Fanconi anemia inherited aplastic anemia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0019391 MONDO:0015161 True Fanconi anemia multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019391 MONDO:0018234 True Fanconi anemia dysostosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0019391 MONDO:0019054 True Fanconi anemia congenital limb malformation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019392 MONDO:0021110 True syringocystadenoma papilliferum sweat gland adenoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019402 MONDO:0000984 True beta thalassemia thalassemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0019404 MONDO:0002547 True perineurioma nerve sheath neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0019409 MONDO:0005298 True idiopathic juvenile osteoporosis osteoporosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS -MONDO:0019433 MONDO:0011429 True oligoarticular juvenile idiopathic arthritis juvenile idiopathic arthritis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019434 MONDO:0011429 True systemic-onset juvenile idiopathic arthritis juvenile idiopathic arthritis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019436 MONDO:0011849 True psoriasis-related juvenile idiopathic arthritis psoriatic arthritis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019437 MONDO:0011429 True enthesitis-related juvenile idiopathic arthritis juvenile idiopathic arthritis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019438 MONDO:0019065 True AL amyloidosis amyloidosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0019439 MONDO:0019065 True AA amyloidosis amyloidosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0019451 MONDO:0001014 True chronic neutrophilic leukemia chronic leukemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0019451 MONDO:0020076 True chronic neutrophilic leukemia myeloproliferative neoplasm UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0019452 MONDO:0020076 True myeloproliferative neoplasm, unclassifiable myeloproliferative neoplasm UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019453 MONDO:0018881 True myelodysplastic syndrome with multilineage dysplasia myelodysplastic syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019454 MONDO:0018881 True myelodysplastic syndrome with excess blasts myelodysplastic syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019455 MONDO:0015667 True acute panmyelosis with myelofibrosis acute myeloid leukemia by FAB classification UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019456 MONDO:0018874 True acute myeloid leukemia with multilineage dysplasia acute myeloid leukemia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019457 MONDO:0018874 True therapy related acute myeloid leukemia and myelodysplastic syndrome acute myeloid leukemia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019458 MONDO:0015667 True acute basophilic leukemia acute myeloid leukemia by FAB classification UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019461 MONDO:0001023 True B-cell prolymphocytic leukemia prolymphocytic leukemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0019393 MONDO:0019218 True idiopathic malabsorption due to bile acid synthesis defects inborn disorder of bile acid synthesis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019396 MONDO:0019722 True collagen type III glomerulopathy glomerular disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019398 MONDO:0016112 True desmin-related myopathy with Mallory body-like inclusions hereditary inclusion-body myopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019399 MONDO:0019119 True Isaac syndrome muscular channelopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019402 MONDO:0000984 True beta thalassemia thalassemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0019402 MONDO:0017145 True beta thalassemia beta-thalassemia and related diseases UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019403 MONDO:0003689 True congenital dyserythropoietic anemia familial hemolytic anemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0019404 MONDO:0002547 True perineurioma nerve sheath neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0019404 MONDO:0016749 True perineurioma tumor of cranial and spinal nerves UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019405 MONDO:0024237 True facial onset sensory and motor neuronopathy inherited neurodegenerative disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019406 MONDO:0019695 True craniofacial conodysplasia acromelic dysplasia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019407 MONDO:0000426 True microcephalic osteodysplastic dysplasia, Saul-Wilson type autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0019407 MONDO:0005497 True microcephalic osteodysplastic dysplasia, Saul-Wilson type bone development disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0019408 MONDO:0019701 True Astley-Kendall dysplasia chondrodysplasia punctata UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019409 MONDO:0005298 True idiopathic juvenile osteoporosis osteoporosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED +MONDO:0019412 MONDO:0018230 True dysspondyloenchondromatosis skeletal dysplasia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019413 MONDO:0018234 True ischio-vertebral syndrome dysostosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019416 MONDO:0015159 True X-linked intellectual disability-hypogammaglobulinemia-progressive neurological deterioration syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019418 MONDO:0015159 True X-linked intellectual disability-epilepsy-progressive joint contractures-dysmorphism syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019420 MONDO:0015159 True X-linked intellectual disability, Pai type multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019422 MONDO:0015159 True X-linked intellectual disability, Stevenson type multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019423 MONDO:0015159 True X-linked intellectual disability, Stoll type multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019427 MONDO:0024237 True X-linked neurodegenerative syndrome, Bertini type inherited neurodegenerative disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019429 MONDO:0024237 True X-linked neurodegenerative syndrome, Hamel type inherited neurodegenerative disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019430 MONDO:0016612 True X-linked intellectual disability-ataxia-apraxia syndrome X-linked cerebellar ataxia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019432 MONDO:0018456 True rheumatoid factor-negative juvenile idiopathic arthritis polyarticular juvenile idiopathic arthritis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019433 MONDO:0011429 True oligoarticular juvenile idiopathic arthritis juvenile idiopathic arthritis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019434 MONDO:0011429 True systemic-onset juvenile idiopathic arthritis juvenile idiopathic arthritis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019435 MONDO:0018456 True rheumatoid factor-positive polyarticular juvenile idiopathic arthritis polyarticular juvenile idiopathic arthritis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019436 MONDO:0011429 True psoriasis-related juvenile idiopathic arthritis juvenile idiopathic arthritis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019437 MONDO:0011429 True enthesitis-related juvenile idiopathic arthritis juvenile idiopathic arthritis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019438 MONDO:0016330 True AL amyloidosis non-familial hypertrophic cardiomyopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019438 MONDO:0016345 True AL amyloidosis non-familial restrictive cardiomyopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019438 MONDO:0019065 True AL amyloidosis amyloidosis UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0019439 MONDO:0016345 True AA amyloidosis non-familial restrictive cardiomyopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019439 MONDO:0019065 True AA amyloidosis amyloidosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0019440 MONDO:0018590 True wild type ABeta2M amyloidosis ABeta2M amyloidosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019441 MONDO:0016340 True ATTRV122I amyloidosis familial restrictive cardiomyopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019443 MONDO:0000153 True dextro-looped transposition of the great arteries transposition of the great arteries UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019443 MONDO:0005453 True dextro-looped transposition of the great arteries congenital heart disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0019444 MONDO:0016128 True trichinellosis parasitic myositis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019446 MONDO:0018432 True localized lichen myxedematosus lichen myxedematosus UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019447 MONDO:0018432 True atypical lichen myxedematosus lichen myxedematosus UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019448 MONDO:0020073 True benign adult familial myoclonic epilepsy adolescent-onset epilepsy syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019449 MONDO:0015148 True lissencephaly type 3-familial fetal akinesia sequence syndrome lissencephaly type 3 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019450 MONDO:0018838 True lissencephaly with cerebellar hypoplasia lissencephaly spectrum disorders UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019451 MONDO:0001014 True chronic neutrophilic leukemia chronic leukemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0019451 MONDO:0020076 True chronic neutrophilic leukemia myeloproliferative neoplasm UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0019452 MONDO:0020076 True myeloproliferative neoplasm, unclassifiable myeloproliferative neoplasm UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019453 MONDO:0018881 True myelodysplastic syndrome with multilineage dysplasia myelodysplastic syndrome UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019454 MONDO:0018881 True myelodysplastic syndrome with excess blasts myelodysplastic syndrome UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019455 MONDO:0015667 True acute panmyelosis with myelofibrosis acute myeloid leukemia by FAB classification UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019456 MONDO:0018874 True acute myeloid leukemia with multilineage dysplasia acute myeloid leukemia UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019457 MONDO:0018874 True therapy related acute myeloid leukemia and myelodysplastic syndrome acute myeloid leukemia UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019458 MONDO:0015667 True acute basophilic leukemia acute myeloid leukemia by FAB classification UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019460 MONDO:0018874 True acute leukemia of ambiguous lineage acute myeloid leukemia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019461 MONDO:0001023 True B-cell prolymphocytic leukemia prolymphocytic leukemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0019461 MONDO:0004949 True B-cell prolymphocytic leukemia neoplasm of mature B-cells UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0019462 MONDO:0017604 True splenic marginal zone lymphoma marginal zone lymphoma UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0019465 MONDO:0017604 True nodal marginal zone B-cell lymphoma marginal zone lymphoma UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0019467 MONDO:0002898 True CD4+/CD56+ hematodermic neoplasm skin cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0019467 MONDO:0005170 True CD4+/CD56+ hematodermic neoplasm myeloid neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0019468 MONDO:0001023 True T-cell prolymphocytic leukemia prolymphocytic leukemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0019461 MONDO:0017595 True B-cell prolymphocytic leukemia aggressive B-cell non-Hodgkin lymphoma UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019462 MONDO:0017604 True splenic marginal zone lymphoma marginal zone lymphoma UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0019463 MONDO:0004959 True non-amyloid monoclonal immunoglobulin deposition disease plasma cell neoplasm UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019464 MONDO:0004959 True heavy chain disease plasma cell neoplasm UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0019465 MONDO:0017604 True nodal marginal zone B-cell lymphoma marginal zone lymphoma UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0019466 MONDO:0017343 True lymphomatoid granulomatosis Epstein-Barr virus-associated malignant lymphoproliferative disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019466 MONDO:0018905 True lymphomatoid granulomatosis diffuse large B-cell lymphoma UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0019467 MONDO:0015760 True CD4+/CD56+ hematodermic neoplasm T-cell non-Hodgkin lymphoma UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0019468 MONDO:0001023 True T-cell prolymphocytic leukemia prolymphocytic leukemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0019469 MONDO:0001014 True T-cell large granular lymphocyte leukemia chronic leukemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0019469 MONDO:0005402 True T-cell large granular lymphocyte leukemia lymphoid leukemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0019469 MONDO:0005046 True T-cell large granular lymphocyte leukemia immune system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0019469 MONDO:0005402 True T-cell large granular lymphocyte leukemia lymphoid leukemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0019470 MONDO:0001014 True aggressive NK-cell leukemia chronic leukemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0019471 MONDO:0003660 True adult T-cell leukemia/lymphoma adult lymphoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0019471 MONDO:0015760 True adult T-cell leukemia/lymphoma T-cell non-Hodgkin lymphoma UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0019472 MONDO:0005062 True extranodal nasal NK/T cell lymphoma lymphoma UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0019473 MONDO:0015760 True enteropathy-associated T-cell lymphoma T-cell non-Hodgkin lymphoma UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019474 MONDO:0015760 True hepatosplenic T-cell lymphoma T-cell non-Hodgkin lymphoma UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0019471 MONDO:0015760 True adult T-cell leukemia/lymphoma T-cell non-Hodgkin lymphoma UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0019471 MONDO:0017341 True adult T-cell leukemia/lymphoma virus associated tumor UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019472 MONDO:0005062 True extranodal nasal NK/T cell lymphoma lymphoma UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0019472 MONDO:0017343 True extranodal nasal NK/T cell lymphoma Epstein-Barr virus-associated malignant lymphoproliferative disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019473 MONDO:0015760 True enteropathy-associated T-cell lymphoma T-cell non-Hodgkin lymphoma UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019474 MONDO:0015760 True hepatosplenic T-cell lymphoma T-cell non-Hodgkin lymphoma UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0019475 MONDO:0015816 True subcutaneous panniculitis-like T-cell lymphoma indolent primary cutaneous T-cell lymphoma UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019476 MONDO:0015758 True primary cutaneous peripheral T-cell lymphoma not otherwise specified primary cutaneous T-cell lymphoma UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019478 MONDO:0003660 True adult nodular lymphocyte predominant Hodgkin lymphoma adult lymphoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019478 MONDO:0044778 True adult nodular lymphocyte predominant Hodgkin lymphoma nodular lymphocyte predominant Hodgkin lymphoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019479 MONDO:0006247 True histiocytic sarcoma histiocytic and dendritic cell neoplasm UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0019479 MONDO:0006247 True histiocytic sarcoma histiocytic and dendritic cell neoplasm UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0019480 MONDO:0020082 True Langerhans cell sarcoma dendritic cell tumor UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019482 MONDO:0020082 True dendritic cell sarcoma not otherwise specified dendritic cell tumor UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019483 MONDO:0005062 True methotrexate-associated lymphoproliferative disorders lymphoma UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0019483 MONDO:0020083 True methotrexate-associated lymphoproliferative disorders immunodeficiency-associated lymphoproliferative disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019485 MONDO:0020071 True idiopathic hemiconvulsion-hemiplegia syndrome infantile epilepsy syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019485 MONDO:0020072 True idiopathic hemiconvulsion-hemiplegia syndrome childhood-onset epilepsy syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019487 MONDO:0020072 True epilepsy with myoclonic absences childhood-onset epilepsy syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019488 MONDO:0020071 True myoclonic epilepsy in non-progressive encephalopathies infantile epilepsy syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019489 MONDO:0017666 True diffuse palmoplantar keratoderma - acrocyanosis syndrome diffuse palmoplantar keratoderma UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019490 MONDO:0000992 True progressive familial heart block heart conduction disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0019496 MONDO:0002082 True neuroendocrine neoplasm endocrine gland neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019499 MONDO:0001967 True Turner syndrome gonadal dysgenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0019499 MONDO:0002254 True Turner syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0019501 MONDO:0002254 True Usher syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0019508 MONDO:0002254 True van der Woude syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0019514 MONDO:0002405 True hepatic veno-occlusive disease hepatic vascular disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0019517 MONDO:0018094 True Waardenburg syndrome type 2 Waardenburg syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019518 MONDO:0018094 True Waardenburg-Shah syndrome Waardenburg syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019527 MONDO:0007179 True undifferentiated connective tissue syndrome autoimmune disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019532 MONDO:0020108 True autoimmune hemolytic anemia, warm type autoimmune hemolytic anemia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019537 MONDO:0019050 True hemoglobin D disease inherited hemoglobinopathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0019542 MONDO:0100192 True acute liver failure liver failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019562 MONDO:0019340 True localized scleroderma scleroderma UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0019563 MONDO:0002254 True CREST syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0019569 MONDO:0016006 True Cockayne syndrome type 1 Cockayne syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0019570 MONDO:0016006 True Cockayne syndrome type 2 Cockayne syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0019600 MONDO:0021190 True xeroderma pigmentosum DNA repair disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019609 MONDO:0019234 True Zellweger spectrum disorders peroxisome biogenesis disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0019610 MONDO:0021058 True Zollinger-Ellison syndrome neoplastic syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019613 MONDO:0006373 True non-functioning pituitary adenoma pituitary gland adenoma UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0019618 MONDO:0002254 True Sheehan syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0019622 MONDO:0002429 True non-specific interstitial pneumonia idiopathic interstitial pneumonia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0019636 MONDO:0018470 True renal agenesis, unilateral renal agenesis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019665 MONDO:0000845 True monostotic fibrous dysplasia fibrous dysplasia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019722 MONDO:0005240 True glomerular disorder kidney disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019734 MONDO:0019127 True juvenile polymyositis polymyositis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019735 MONDO:0002254 True polymyalgia rheumatica syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0019735 MONDO:0005554 True polymyalgia rheumatica rheumatic disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0019737 MONDO:0001531 True thrombotic microangiopathy blood coagulation disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019740 MONDO:0018896 True acquired thrombotic thrombocytopenic purpura thrombotic thrombocytopenic purpura UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019751 MONDO:0002254 True autoinflammatory syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019753 MONDO:0015564 True localized Castleman disease Castleman disease UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019754 MONDO:0015564 True multicentric Castleman disease Castleman disease UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0019498 MONDO:0002875 True tungiasis parasitic ectoparasitic infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0019499 MONDO:0001967 True Turner syndrome gonadal dysgenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0019499 MONDO:0017975 True Turner syndrome sex chromosome disorder of sex development UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019499 MONDO:0019852 True Turner syndrome inherited primary ovarian failure UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019500 MONDO:0020539 True extragonadal teratoma extragonadal non-dysgerminomatous germ cell tumor UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019501 MONDO:0002254 True Usher syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0019501 MONDO:0006025 True Usher syndrome autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0019502 MONDO:0006025 True autosomal recessive non-syndromic intellectual disability autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0019503 MONDO:0003847 True anterior segment dysgenesis hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0019503 MONDO:0005328 True anterior segment dysgenesis eye disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0019507 MONDO:0004038 True amelogenesis imperfecta dental enamel hypoplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0019508 MONDO:0002254 True van der Woude syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0019508 MONDO:0015161 True van der Woude syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019509 MONDO:0015491 True cutaneous leukocytoclastic angiitis immune complex mediated vasculitis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019514 MONDO:0002405 True hepatic veno-occlusive disease hepatic vascular disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0019516 MONDO:0002311 True exudative vitreoretinopathy retinal vascular disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0019517 MONDO:0018094 True Waardenburg syndrome type 2 Waardenburg syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019522 MONDO:0006543 True recessive dystrophic epidermolysis bullosa-generalized other epidermolysis bullosa dystrophica UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019524 MONDO:0015231 True Bartter syndrome type 4 Bartter syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019525 MONDO:0019852 True tetrasomy X inherited primary ovarian failure UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019526 MONDO:0015491 True erythema elevatum diutinum immune complex mediated vasculitis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019532 MONDO:0020108 True autoimmune hemolytic anemia, warm type autoimmune hemolytic anemia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019533 MONDO:0016450 True paroxysmal cold hemoglobinuria autoimmune hemolytic anemia, cold type UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019534 MONDO:0020108 True mixed-type autoimmune hemolytic anemia autoimmune hemolytic anemia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019535 MONDO:0020108 True drug-induced autoimmune hemolytic anemia autoimmune hemolytic anemia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019536 MONDO:0034103 True Shiga toxin-associated hemolytic uremic syndrome infection-related hemolytic uremic syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019537 MONDO:0002280 True hemoglobin D disease anemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0019537 MONDO:0019050 True hemoglobin D disease inherited hemoglobinopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0019538 MONDO:0016541 True Gaisbock syndrome acquired secondary polycythemia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019548 MONDO:0018778 True autosomal dominant intermediate Charcot-Marie-Tooth disease intermediate Charcot-Marie-Tooth disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019552 MONDO:0019194 True centrifugal lipodystrophy localized lipodystrophy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019553 MONDO:0019194 True drug-induced localized lipodystrophy localized lipodystrophy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019554 MONDO:0019194 True idiopathic localized lipodystrophy localized lipodystrophy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019555 MONDO:0019194 True panniculitis and localized lipodystrophy localized lipodystrophy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019556 MONDO:0019194 True pressure-induced localized lipoatrophy localized lipodystrophy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019557 MONDO:0015574 True chilblain lupus chronic cutaneous lupus erythematosus UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019557 MONDO:0019293 True chilblain lupus skin vascular disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0019558 MONDO:0015574 True discoid lupus erythematosus chronic cutaneous lupus erythematosus UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019559 MONDO:0015574 True hypertrophic or verrucous lupus erythematosus chronic cutaneous lupus erythematosus UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019560 MONDO:0015574 True lupus erythematosus tumidus chronic cutaneous lupus erythematosus UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019561 MONDO:0015574 True lupus erythematosus panniculitis chronic cutaneous lupus erythematosus UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019562 MONDO:0019340 True localized scleroderma scleroderma UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0019563 MONDO:0002254 True CREST syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0019565 MONDO:0021181 True hereditary von Willebrand disease inherited blood coagulation disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019569 MONDO:0016006 True Cockayne syndrome type 1 Cockayne syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0019570 MONDO:0016006 True Cockayne syndrome type 2 Cockayne syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0019571 MONDO:0000426 True autosomal dominant cutis laxa autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0019572 MONDO:0006025 True autosomal recessive cutis laxa type 1 autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0019573 MONDO:0017355 True autosomal recessive cutis laxa type 2 inborn disorder of proline metabolism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019573 MONDO:0018230 True autosomal recessive cutis laxa type 2 skeletal dysplasia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019574 MONDO:0018178 True secondary intestinal lymphangiectasia intestinal lymphangiectasia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019575 MONDO:0004907 True hypotrichosis simplex of the scalp alopecia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019576 MONDO:0019316 True telangiectasia macularis eruptiva perstans maculopapular cutaneous mastocytosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019577 MONDO:0019211 True anonychia-onychodystrophy syndrome isolated congenital anonychia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019578 MONDO:0019446 True nodular lichen myxedematosus localized lichen myxedematosus UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019579 MONDO:0019446 True discrete papular lichen myxedematosus localized lichen myxedematosus UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019580 MONDO:0019446 True papular mucinosis of infancy localized lichen myxedematosus UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019581 MONDO:0019446 True acral persistent papular mucinosis localized lichen myxedematosus UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019582 MONDO:0019446 True self-healing papular mucinosis localized lichen myxedematosus UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019583 MONDO:0019447 True localized lichen myxedematosus with mixed features of different subtypes atypical lichen myxedematosus UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019584 MONDO:0019447 True localized lichen myxedematosus with monoclonal gammopathy or systemic symptoms atypical lichen myxedematosus UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019585 MONDO:0019447 True scleromyxedema without monoclonal gammopathy atypical lichen myxedematosus UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019587 MONDO:0000426 True autosomal dominant nonsyndromic hearing loss autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0019588 MONDO:0006025 True hearing loss, autosomal recessive autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0019600 MONDO:0015951 True xeroderma pigmentosum hereditary photodermatosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019605 MONDO:0019722 True immunotactoid or fibrillary glomerulopathy glomerular disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019606 MONDO:0015923 True simple cryoglobulinemia acquired peripheral neuropathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019607 MONDO:0011429 True unspecified juvenile idiopathic arthritis juvenile idiopathic arthritis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019609 MONDO:0015327 True Zellweger spectrum disorders developmental anomaly of metabolic origin UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019609 MONDO:0019234 True Zellweger spectrum disorders peroxisome biogenesis disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0019612 MONDO:0003429 True functioning gonadotropic adenoma functioning pituitary gland adenoma UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019613 MONDO:0006373 True non-functioning pituitary adenoma pituitary gland adenoma UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0019614 MONDO:0015127 True pituitary deficiency due to Rathke's pouch cysts pituitary deficiency UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019615 MONDO:0021227 True pituitary dermoid and epidermoid cysts adrenal gland neoplasm UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019617 MONDO:0015127 True pituitary deficiency due to empty sella turcica syndrome pituitary deficiency UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019621 MONDO:0017019 True chronic pneumonitis of infancy interstitial lung disease specific to infancy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019622 MONDO:0002429 True non-specific interstitial pneumonia idiopathic interstitial pneumonia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0019623 MONDO:0010481 True hereditary angioedema angioedema UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0019624 MONDO:0010481 True acquired angioedema angioedema UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0019628 MONDO:0011119 True Rieger anomaly iridogoniodysgenesis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019629 MONDO:0000942 True sclerocornea corneal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0019630 MONDO:0011119 True congenital ectropion uveae iridogoniodysgenesis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019631 MONDO:0004860 True persistent hyperplastic primary vitreous vitreous disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0019632 MONDO:0000314 True Lyme disease primary bacterial infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0019633 MONDO:0000314 True relapsing fever primary bacterial infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0019634 MONDO:0018751 True familial nasal acilia hereditary otorhinolaryngologic disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019636 MONDO:0018470 True renal agenesis, unilateral renal agenesis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019637 MONDO:0005240 True renal hypoplasia kidney disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0019640 MONDO:0018559 True posterior urethral valve fetal lower urinary tract obstruction UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019642 MONDO:0017323 True vitamin D-dependent rickets, type 2 hypocalcemic rickets UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019643 MONDO:0018638 True transient pseudohypoaldosteronism pseudohypoaldosteronism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019644 MONDO:0019638 True renal dysplasia, unilateral renal dysplasia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019645 MONDO:0019638 True renal dysplasia, bilateral renal dysplasia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019646 MONDO:0019639 True unilateral congenital megacalycosis congenital megacalycosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019647 MONDO:0019639 True congenital bilateral megacalycosis congenital megacalycosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019648 MONDO:0005516 True achondrogenesis osteochondrodysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0019648 MONDO:0019694 True achondrogenesis spondylodysplastic dysplasia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019659 MONDO:0007043 True Pfeiffer syndrome type 1 Pfeiffer syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019660 MONDO:0007043 True Pfeiffer syndrome type 2 Pfeiffer syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019661 MONDO:0007043 True Pfeiffer syndrome type 3 Pfeiffer syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019662 MONDO:0015461 True short rib-polydactyly syndrome, Majewski type short rib-polydactyly syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019665 MONDO:0000845 True monostotic fibrous dysplasia fibrous dysplasia UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019666 MONDO:0100510 True spondyloepimetaphyseal dysplasia, PAPSS2 type spondyloepimetaphyseal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0019667 MONDO:0016761 True spondyloepiphyseal dysplasia tarda spondyloepiphyseal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0019669 MONDO:0019648 True hypochondrogenesis achondrogenesis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0019669 MONDO:0022800 True hypochondrogenesis type 2 collagenopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019670 MONDO:0016240 True ulnar hemimelia hemimelia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019671 MONDO:0016240 True radial hemimelia hemimelia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019672 MONDO:0016240 True fibular hemimelia hemimelia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019675 MONDO:0100510 True spondyloepimetaphyseal dysplasia with joint laxity spondyloepimetaphyseal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0019681 MONDO:0009738 True juvenile sialidosis type 2 sialidosis type 2 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019682 MONDO:0009738 True congenital sialidosis type 2 sialidosis type 2 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019691 MONDO:0018230 True short rib dysplasia skeletal dysplasia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019694 MONDO:0018230 True spondylodysplastic dysplasia skeletal dysplasia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019695 MONDO:0018230 True acromelic dysplasia skeletal dysplasia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019696 MONDO:0005516 True acromesomelic dysplasia osteochondrodysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0019696 MONDO:0018230 True acromesomelic dysplasia skeletal dysplasia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019698 MONDO:0018230 True bent bone dysplasia skeletal dysplasia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019701 MONDO:0018230 True chondrodysplasia punctata skeletal dysplasia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019702 MONDO:0018230 True neonatal osteosclerotic dysplasia skeletal dysplasia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019707 MONDO:0018230 True primary osteolysis skeletal dysplasia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019719 MONDO:0019755 True congenital anomaly of kidney and urinary tract developmental defect during embryogenesis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019726 MONDO:0007407 True type II mixed cryoglobulinemia Cryoglobulinemic vasculitis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019727 MONDO:0007407 True mixed cryoglobulinemia type III Cryoglobulinemic vasculitis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019728 MONDO:0019463 True heavy chain deposition disease non-amyloid monoclonal immunoglobulin deposition disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019729 MONDO:0019463 True light and heavy chain deposition disease non-amyloid monoclonal immunoglobulin deposition disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019730 MONDO:0019463 True light chain deposition disease non-amyloid monoclonal immunoglobulin deposition disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019731 MONDO:0007099 True AApoAI amyloidosis familial visceral amyloidosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019732 MONDO:0007099 True ALys amyloidosis familial visceral amyloidosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019733 MONDO:0007099 True AFib amyloidosis familial visceral amyloidosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019734 MONDO:0018010 True juvenile polymyositis juvenile idiopathic inflammatory myopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019736 MONDO:0018904 True dense deposit disease primary membranoproliferative glomerulonephritis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019739 MONDO:0016244 True atypical hemolytic-uremic syndrome with anti-factor H antibodies atypical hemolytic-uremic syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019740 MONDO:0018896 True acquired thrombotic thrombocytopenic purpura thrombotic thrombocytopenic purpura UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019742 MONDO:0019005 True late-onset nephronophthisis nephronophthisis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019745 MONDO:0009067 True cystinuria type A cystinuria UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019746 MONDO:0009067 True cystinuria type B cystinuria UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019753 MONDO:0015564 True localized Castleman disease Castleman disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019754 MONDO:0015157 True multicentric Castleman disease human herpesvirus 8-related tumor UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019754 MONDO:0015564 True multicentric Castleman disease Castleman disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0019756 MONDO:0016296 True lobar holoprosencephaly holoprosencephaly UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019757 MONDO:0016296 True alobar holoprosencephaly holoprosencephaly UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019759 MONDO:0017919 True epispadias exstrophy-epispadias complex UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019761 MONDO:0016060 True laryngotracheoesophageal cleft type 1 laryngotracheoesophageal cleft UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019762 MONDO:0016060 True laryngotracheoesophageal cleft type 2 laryngotracheoesophageal cleft UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019763 MONDO:0016060 True laryngotracheoesophageal cleft type 3 laryngotracheoesophageal cleft UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019764 MONDO:0016060 True laryngotracheoesophageal cleft type 4 laryngotracheoesophageal cleft UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019766 MONDO:0010653 True X-linked intellectual disability, Porteous type Renpenning syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019767 MONDO:0010653 True hamel cerebro-palato-cardiac syndrome Renpenning syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019768 MONDO:0010653 True X-linked intellectual disability, Golabi-Ito-hall type Renpenning syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019769 MONDO:0010653 True X-linked intellectual disability, Sutherland-Haan type Renpenning syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019771 MONDO:0000477 True oromandibular dystonia focal dystonia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0019771 MONDO:0015990 True oromandibular dystonia focal, segmental or multifocal dystonia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019772 MONDO:0015990 True blepharospasm-oromandibular dystonia syndrome focal, segmental or multifocal dystonia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019773 MONDO:0017069 True myelomeningocele spina bifida cystica UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019780 MONDO:0019755 True anotia developmental defect during embryogenesis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019781 MONDO:0021636 True astrocytoma (excluding glioblastoma) astrocytic tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019787 MONDO:0020598 True autoimmune enteropathy malabsorption syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019790 MONDO:0002254 True neuroleptic malignant syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0019790 MONDO:0005071 True neuroleptic malignant syndrome nervous system disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0019783 MONDO:0005041 True neovascular glaucoma glaucoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0019784 MONDO:0016877 True 12q14 microdeletion syndrome partial deletion of the long arm of chromosome 12 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019786 MONDO:0015159 True severe intellectual disability-epilepsy-anal anomalies-distal phalangeal hypoplasia multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019789 MONDO:0019296 True cytophagic histiocytic panniculitis subcutaneous tissue disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019790 MONDO:0005071 True neuroleptic malignant syndrome nervous system disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0019791 MONDO:0016798 True recessive mitochondrial ataxia syndrome ataxia neuropathy spectrum UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019791 MONDO:0020044 True recessive mitochondrial ataxia syndrome autosomal recessive metabolic cerebellar ataxia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019792 MONDO:0020380 True autosomal dominant cerebellar ataxia type I autosomal dominant cerebellar ataxia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019793 MONDO:0020380 True autosomal dominant cerebellar ataxia type III autosomal dominant cerebellar ataxia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019794 MONDO:0020380 True autosomal dominant cerebellar ataxia type IV autosomal dominant cerebellar ataxia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019797 MONDO:0015483 True acrodysostosis mandibulofacial dysostosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019797 MONDO:0018234 True acrodysostosis dysostosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0019797 MONDO:0019695 True acrodysostosis acromelic dysplasia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019801 MONDO:0015128 True acute adrenal insufficiency primary adrenal insufficiency UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019802 MONDO:0015183 True secondary short bowel syndrome short bowel syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019803 MONDO:0002300 True angioma serpiginosum dermis tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0019803 MONDO:0003110 True angioma serpiginosum skin hemangioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0019803 MONDO:0019293 True angioma serpiginosum skin vascular disease UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0019804 MONDO:0002567 True tracheomalacia tracheal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0019808 MONDO:0005453 True aortic valve atresia congenital heart disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019809 MONDO:0005648 True congenital aortic valve insufficiency aortic valve insufficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019828 MONDO:0002254 True pituitary stalk interruption syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019928 MONDO:0002254 True 48,XXXY syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019929 MONDO:0002254 True 49,XXXXY syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019944 MONDO:0002254 True Eisenmenger syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019803 MONDO:0003110 True angioma serpiginosum skin hemangioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0019803 MONDO:0016231 True angioma serpiginosum capillary malformation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019803 MONDO:0019293 True angioma serpiginosum skin vascular disease UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0019804 MONDO:0002567 True tracheomalacia tracheal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0019805 MONDO:0001240 True twin to twin transfusion syndrome neonatal anemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0019807 MONDO:0019512 True mesocardia congenital heart malformation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019808 MONDO:0017735 True aortic valve atresia congenital aortic valve stenosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019810 MONDO:0017396 True toxic epidermal necrolysis toxic dermatosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019811 MONDO:0020289 True tricuspid valve agenesis congenital tricuspid malformation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019813 MONDO:0020289 True congenital tricuspid stenosis congenital tricuspid malformation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019814 MONDO:0020289 True straddling or overriding tricuspid valve congenital tricuspid malformation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019815 MONDO:0020289 True accessory tricuspid valve tissue congenital tricuspid malformation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019817 MONDO:0016582 True congenital mitral valve insufficiency and/or stenosis congenital mitral malformation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019818 MONDO:0016582 True cleft mitral valve congenital mitral malformation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019819 MONDO:0019818 True double-orifice mitral valve cleft mitral valve UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019820 MONDO:0019512 True univentricular cardiopathy congenital heart malformation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019823 MONDO:0020292 True premature closure of the arterial duct congenital anomaly of the great arteries UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019824 MONDO:0015127 True non-acquired pituitary hormone deficiency pituitary deficiency UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019824 MONDO:0015514 True non-acquired pituitary hormone deficiency hereditary endocrine growth disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019825 MONDO:0015203 True congenital coronary artery aneurysm coronary artery congenital malformation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019828 MONDO:0019824 True pituitary stalk interruption syndrome non-acquired pituitary hormone deficiency UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019832 MONDO:0015127 True acquired pituitary hormone deficiency pituitary deficiency UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019835 MONDO:0019832 True primary hypophysitis acquired pituitary hormone deficiency UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019838 MONDO:0019835 True adenohypophysitis primary hypophysitis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019839 MONDO:0019835 True panhypophysitis primary hypophysitis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019845 MONDO:0019832 True iatrogenic or traumatic pituitary deficiency acquired pituitary hormone deficiency UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019846 MONDO:0015790 True acquired central diabetes insipidus central diabetes insipidus UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019857 MONDO:0016555 True congenital hypothyroidism due to transplacental passage of maternal TSH-binding inhibitory antibodies transient congenital hypothyroidism due to maternal factor UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019858 MONDO:0018612 True idiopathic congenital hypothyroidism congenital hypothyroidism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019862 MONDO:0018677 True levocardia visceral heterotaxy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019870 MONDO:0017012 True distal trisomy 1p36 partial duplication of the short arm of chromosome 1 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019871 MONDO:0016939 True distal trisomy 2p partial duplication of the short arm of chromosome 2 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019872 MONDO:0016940 True distal trisomy 3p partial duplication of the short arm of chromosome 3 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019873 MONDO:0016941 True 4p16.3 microduplication syndrome partial duplication of the short arm of chromosome 4 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019873 MONDO:0019716 True 4p16.3 microduplication syndrome overgrowth syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019874 MONDO:0016944 True distal trisomy 7p partial duplication of the short arm of chromosome 7 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019875 MONDO:0007534 True Beckwith-Wiedemann syndrome due to 11p15 microduplication Beckwith-Wiedemann syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019875 MONDO:0016948 True Beckwith-Wiedemann syndrome due to 11p15 microduplication partial duplication of the short arm of chromosome 11 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019877 MONDO:0016953 True distal trisomy 2q partial duplication of the long arm of chromosome 2 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019878 MONDO:0016954 True 3q26 microduplication syndrome partial duplication of the long arm of chromosome 3 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019879 MONDO:0016955 True distal trisomy 4q partial duplication of the long arm of chromosome 4 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019880 MONDO:0016956 True distal trisomy 5q partial trisomy of the long arm of chromosome 5 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019881 MONDO:0016957 True distal trisomy 6q partial duplication of the long arm of chromosome 6 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019882 MONDO:0016959 True distal trisomy 8q partial duplication of the long arm of chromosome 8 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019883 MONDO:0016960 True distal trisomy 9q partial trisomy of the long arm of chromosome 9 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019884 MONDO:0016961 True distal trisomy 10q partial duplication of the long arm of chromosome 10 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019885 MONDO:0022173 True distal trisomy 11q chromosome 11q trisomy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019886 MONDO:0022177 True distal trisomy 13q chromosome 13q trisomy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019887 MONDO:0016966 True distal trisomy 16q partial trisomy of the long arm of chromosome 16 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019888 MONDO:0016970 True distal trisomy 20q partial trisomy of the long arm of chromosome 20 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019889 MONDO:0016972 True distal trisomy 22q partial duplication of the long arm of chromosome 22 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019890 MONDO:0016960 True non-distal trisomy 9q partial trisomy of the long arm of chromosome 9 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019892 MONDO:0016889 True distal monosomy 7p partial deletion of the short arm of chromosome 7 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019893 MONDO:0016897 True distal monosomy 19p13.3 partial deletion of the short arm of chromosome 19 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019895 MONDO:0016903 True distal monosomy 4q partial deletion of the long arm of chromosome 4 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019896 MONDO:0016908 True Kleefstra syndrome due to 9q34 microdeletion partial monosomy of the long arm of chromosome 9 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019897 MONDO:0016877 True distal monosomy 12q partial deletion of the long arm of chromosome 12 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019898 MONDO:0016912 True distal monosomy 14q partial deletion of the long arm of chromosome 14 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019900 MONDO:0016877 True non-distal monosomy 12q partial deletion of the long arm of chromosome 12 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019902 MONDO:0016911 True monosomy 13q34 partial deletion of the long arm of chromosome 13 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019913 MONDO:0008394 True silver-Russell syndrome due to maternal uniparental disomy of chromosome 7 Silver-Russell syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019915 MONDO:0014541 True maternal uniparental disomy of chromosome 14 motor developmental delay due to 14q32.2 paternally expressed gene defect UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019923 MONDO:0007534 True Beckwith-Wiedemann syndrome due to paternal uniparental disomy of chromosome 11 Beckwith-Wiedemann syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019926 MONDO:0019852 True X small rings inherited primary ovarian failure UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019928 MONDO:0017975 True 48,XXXY syndrome sex chromosome disorder of sex development UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019929 MONDO:0017975 True 49,XXXXY syndrome sex chromosome disorder of sex development UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019933 MONDO:0006793 True acromegaly hyperpituitarism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0019934 MONDO:0019040 True polyploidy chromosomal disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019941 MONDO:0015364 True hereditary sensory and autonomic neuropathy type 2 hereditary sensory and autonomic neuropathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0019942 MONDO:0003939 True distal arthrogryposis muscle tissue disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0019942 MONDO:0015225 True distal arthrogryposis arthrogryposis syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019944 MONDO:0015924 True Eisenmenger syndrome pulmonary arterial hypertension UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019948 MONDO:0019952 True reducing body myopathy congenital myopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0019950 MONDO:0020121 True congenital muscular dystrophy muscular dystrophy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0019951 MONDO:0016187 True rigid spine syndrome qualitative or quantitative defects of desmin UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019951 MONDO:0016197 True rigid spine syndrome qualitative or quantitative defects of selenoprotein N1 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019951 MONDO:0019950 True rigid spine syndrome congenital muscular dystrophy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019952 MONDO:0005336 True congenital myopathy myopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0019954 MONDO:0000386 True pancreatic neuroendocrine tumor digestive system neuroendocrine tumor, grade 1/2 UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019954 MONDO:0005815 True pancreatic neuroendocrine tumor pancreatic neuroendocrine neoplasm UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019956 MONDO:0005560 True encephalitis brain disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0019959 MONDO:0019954 True glucagonoma pancreatic neuroendocrine tumor UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019962 MONDO:0002108 True thyroid lymphoma thyroid cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0019962 MONDO:0017207 True thyroid lymphoma primary organ-specific lymphoma UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019978 MONDO:0002254 True Robinow syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0019991 MONDO:0002462 True immunotactoid glomerulopathy glomerulonephritis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020010 MONDO:0005071 True infectious disorder of the nervous system nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020010 MONDO:0005550 True infectious disorder of the nervous system infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020040 MONDO:0002145 True 46,XY disorder of sex development disorder of sexual differentiation UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020066 MONDO:0002254 True Ehlers-Danlos syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0020067 MONDO:0019956 True infectious encephalitis encephalitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020067 MONDO:0024619 True infectious encephalitis central nervous system infectious disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020076 MONDO:0005170 True myeloproliferative neoplasm myeloid neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0019954 MONDO:0005815 True pancreatic neuroendocrine tumor pancreatic neuroendocrine neoplasm UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019955 MONDO:0019954 True GRFoma pancreatic neuroendocrine tumor UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019956 MONDO:0005560 True encephalitis brain disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0019957 MONDO:0019954 True PPoma pancreatic neuroendocrine tumor UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019959 MONDO:0019954 True glucagonoma pancreatic neuroendocrine tumor UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019960 MONDO:0019954 True VIPoma pancreatic neuroendocrine tumor UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019962 MONDO:0002108 True thyroid lymphoma thyroid cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0019962 MONDO:0017207 True thyroid lymphoma primary organ-specific lymphoma UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019963 MONDO:0019496 True bronchial endocrine tumor neuroendocrine neoplasm UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019964 MONDO:0005197 True thymic neuroendocrine tumor thymus neoplasm UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019964 MONDO:0019496 True thymic neuroendocrine tumor neuroendocrine neoplasm UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019967 MONDO:0018381 True Kienbock disease osteochondrosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019969 MONDO:0018381 True panner disease osteochondrosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019970 MONDO:0018381 True Sinding-Larsen-Johansson disease osteochondrosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019975 MONDO:0006873 True pellagra nutritional deficiency disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0019978 MONDO:0002254 True Robinow syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0019978 MONDO:0018230 True Robinow syndrome skeletal dysplasia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019979 MONDO:0019637 True renal hypoplasia, unilateral renal hypoplasia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019980 MONDO:0019637 True renal hypoplasia, bilateral renal hypoplasia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019981 MONDO:0015988 True unilateral multicystic dysplastic kidney multicystic dysplastic kidney UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019982 MONDO:0015988 True bilateral multicystic dysplastic kidney multicystic dysplastic kidney UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019984 MONDO:0017609 True renal tubular dysgenesis due to twin-twin transfusion renal tubular dysgenesis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019985 MONDO:0017609 True drug-related renal tubular dysgenesis renal tubular dysgenesis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019988 MONDO:0019641 True pauci-immune glomerulonephritis with ANCA Pauci-immune glomerulonephritis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019989 MONDO:0019641 True pauci-immune glomerulonephritis without ANCA Pauci-immune glomerulonephritis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019990 MONDO:0019605 True non-amyloid fibrillary glomerulopathy immunotactoid or fibrillary glomerulopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019991 MONDO:0019605 True immunotactoid glomerulopathy immunotactoid or fibrillary glomerulopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019992 MONDO:0004689 True pseudohypoparathyroidism inborn metal metabolism disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0019992 MONDO:0015327 True pseudohypoparathyroidism developmental anomaly of metabolic origin UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019992 MONDO:0015962 True pseudohypoparathyroidism inherited renal tubular disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019992 MONDO:0016165 True pseudohypoparathyroidism hereditary hypoparathyroidism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020007 MONDO:0020292 True absence of the pulmonary artery congenital anomaly of the great arteries UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020022 MONDO:0019755 True central nervous system malformation developmental defect during embryogenesis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020040 MONDO:0002145 True 46,XY disorder of sex development disorder of sexual differentiation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020043 MONDO:0015244 True autosomal recessive congenital cerebellar ataxia autosomal recessive cerebellar ataxia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020044 MONDO:0015244 True autosomal recessive metabolic cerebellar ataxia autosomal recessive cerebellar ataxia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020046 MONDO:0015244 True autosomal recessive degenerative and progressive cerebellar ataxia autosomal recessive cerebellar ataxia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020047 MONDO:0015244 True autosomal recessive syndromic cerebellar ataxia autosomal recessive cerebellar ataxia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020049 MONDO:0019040 True autosomal anomaly chromosomal disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020058 MONDO:0019040 True gonosome anomaly chromosomal disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020064 MONDO:0016581 True pulmonary valve agenesis conotruncal heart malformations UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020065 MONDO:0044807 True combined dystonia inherited dystonia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020066 MONDO:0019755 True Ehlers-Danlos syndrome developmental defect during embryogenesis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020070 MONDO:0015650 True neonatal epilepsy syndrome epilepsy syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020071 MONDO:0015650 True infantile epilepsy syndrome epilepsy syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020072 MONDO:0015650 True childhood-onset epilepsy syndrome epilepsy syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020073 MONDO:0015650 True adolescent-onset epilepsy syndrome epilepsy syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020074 MONDO:0020072 True progressive myoclonus epilepsy childhood-onset epilepsy syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020074 MONDO:0020073 True progressive myoclonus epilepsy adolescent-onset epilepsy syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020074 MONDO:0100036 True progressive myoclonus epilepsy variable age onset epilepsy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0020076 MONDO:0005170 True myeloproliferative neoplasm myeloid neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0020076 MONDO:0015756 True myeloproliferative neoplasm myeloid hemopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020076 MONDO:0021138 True myeloproliferative neoplasm bone marrow cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020088 MONDO:0027767 True familial partial lipodystrophy partial lipodystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0020108 MONDO:0003664 True autoimmune hemolytic anemia hemolytic anemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0020110 MONDO:0005087 True pulmonary agenesis respiratory system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020115 MONDO:0005571 True secondary polycythemia polycythemia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020121 MONDO:0005336 True muscular dystrophy myopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0020123 MONDO:0005336 True metabolic myopathy myopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020077 MONDO:0015756 True myelodysplastic/myeloproliferative disease myeloid hemopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020082 MONDO:0006247 True dendritic cell tumor histiocytic and dendritic cell neoplasm UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020083 MONDO:0015757 True immunodeficiency-associated lymphoproliferative disease lymphoid hemopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020088 MONDO:0020087 True familial partial lipodystrophy hereditary lipodystrophy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020088 MONDO:0027767 True familial partial lipodystrophy partial lipodystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0020099 MONDO:0015194 True inherited sideroblastic anemia sideroblastic anemia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020108 MONDO:0000602 True autoimmune hemolytic anemia autoimmune disorder of blood UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0020108 MONDO:0003664 True autoimmune hemolytic anemia hemolytic anemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0020112 MONDO:0016624 True vitamin B12- and folate-independent constitutional megaloblastic anemia inherited deficiency anemia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020113 MONDO:0015610 True primary acquired red cell aplasia acquired aplastic anemia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020115 MONDO:0005571 True secondary polycythemia polycythemia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020119 MONDO:0000508 True X-linked syndromic intellectual disability syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0020121 MONDO:0005336 True muscular dystrophy myopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0020121 MONDO:0019056 True muscular dystrophy neuromuscular disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0020122 MONDO:0016105 True acquired idiopathic inflammatory myopathy acquired skeletal muscle disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020124 MONDO:0019056 True neuromuscular junction disease neuromuscular disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0020128 MONDO:0005559 True motor neuron disorder neurodegenerative disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0020128 MONDO:0019056 True motor neuron disorder neuromuscular disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0020129 MONDO:0020128 True acquired motor neuron disease motor neuron disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020135 MONDO:0020022 True pontocerebellar hypoplasia central nervous system malformation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020143 MONDO:0005560 True cerebral lipidosis with dementia brain disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0020143 MONDO:0015547 True cerebral lipidosis with dementia hereditary dementia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020179 MONDO:0005073 True palpebral nevus melanocytic nevus UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020204 MONDO:0006170 True conjunctival tumor conjunctival disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020204 MONDO:0021220 True conjunctival tumor eye neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020242 MONDO:0019118 True hereditary macular dystrophy inherited retinal dystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020250 MONDO:0043878 True autosomal dominant optic atrophy hereditary optic atrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020283 MONDO:0002661 True uveitis uveal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0020290 MONDO:0002078 True familial atrioventricular septal defect heart septal defect UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0020291 MONDO:0002254 True hypoplastic right heart syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0020295 MONDO:0005453 True congenital pulmonary veins anomaly congenital heart disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020296 MONDO:0024239 True congenital arteriovenous fistula congenital anomaly of cardiovascular system UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020212 MONDO:0018102 True superficial corneal dystrophy corneal dystrophy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020213 MONDO:0018102 True stromal corneal dystrophy corneal dystrophy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0020214 MONDO:0018102 True posterior corneal dystrophy corneal dystrophy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020250 MONDO:0020249 True autosomal dominant optic atrophy hereditary optic neuropathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020283 MONDO:0002661 True uveitis uveal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0020290 MONDO:0002078 True familial atrioventricular septal defect heart septal defect UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0020291 MONDO:0019820 True hypoplastic right heart syndrome univentricular cardiopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020292 MONDO:0019512 True congenital anomaly of the great arteries congenital heart malformation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020297 MONDO:0021060 True Noonan syndrome and Noonan-related syndrome RASopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020298 MONDO:0008300 True Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 Prader-Willi syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020300 MONDO:0002612 True autosomal dominant nocturnal frontal lobe epilepsy frontal lobe epilepsy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0020300 MONDO:0017704 True autosomal dominant nocturnal frontal lobe epilepsy familial partial epilepsy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020301 MONDO:0008300 True Prader-Willi syndrome due to paternal 15q11q13 deletion Prader-Willi syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020301 MONDO:0016913 True Prader-Willi syndrome due to paternal 15q11q13 deletion partial deletion of the long arm of chromosome 15 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020302 MONDO:0007113 True Angelman syndrome due to maternal 15q11q13 deletion Angelman syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020302 MONDO:0016913 True Angelman syndrome due to maternal 15q11q13 deletion partial deletion of the long arm of chromosome 15 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020303 MONDO:0007113 True Angelman syndrome due to paternal uniparental disomy of chromosome 15 Angelman syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020304 MONDO:0019935 True isochromosomy Yp isochromosome Y UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020305 MONDO:0019935 True isochromosomy Yq isochromosome Y UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020307 MONDO:0007558 True benign childhood occipital epilepsy, Panayiotopoulos type benign occipital epilepsy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020308 MONDO:0007558 True benign childhood occipital epilepsy, Gastaut type benign occipital epilepsy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020310 MONDO:0017704 True familial focal epilepsy with variable foci familial partial epilepsy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020311 MONDO:0001014 True chronic myelomonocytic leukemia chronic leukemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0020311 MONDO:0006311 True chronic myelomonocytic leukemia myelodysplastic/myeloproliferative neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0020317 MONDO:0018874 True acute myeloid leukemia with 11q23 abnormalities acute myeloid leukemia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020320 MONDO:0015667 True acute myeloblastic leukemia with maturation acute myeloid leukemia by FAB classification UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020321 MONDO:0019460 True acute undifferentiated leukemia acute leukemia of ambiguous lineage UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020311 MONDO:0020077 True chronic myelomonocytic leukemia myelodysplastic/myeloproliferative disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020316 MONDO:0018874 True acute myeloid leukemia with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22) acute myeloid leukemia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020317 MONDO:0018874 True acute myeloid leukemia with 11q23 abnormalities acute myeloid leukemia UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020320 MONDO:0015667 True acute myeloblastic leukemia with maturation acute myeloid leukemia by FAB classification UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020321 MONDO:0019460 True acute undifferentiated leukemia acute leukemia of ambiguous lineage UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020322 MONDO:0020743 True acute biphenotypic leukemia mixed phenotype acute leukemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020323 MONDO:0000951 True primary mediastinal large B-cell lymphoma thymus lymphoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0020323 MONDO:0018905 True primary mediastinal large B-cell lymphoma diffuse large B-cell lymphoma UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0020324 MONDO:0018905 True intravascular large B-cell lymphoma diffuse large B-cell lymphoma UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0020323 MONDO:0018905 True primary mediastinal large B-cell lymphoma diffuse large B-cell lymphoma UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0020324 MONDO:0018905 True intravascular large B-cell lymphoma diffuse large B-cell lymphoma UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0020325 MONDO:0000430 True anaplastic large cell lymphoma mature T-cell and NK-cell non-Hodgkin lymphoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0020331 MONDO:0016586 True indolent systemic mastocytosis systemic mastocytosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0020332 MONDO:0016586 True systemic mastocytosis with an associated clonal hematologic non-mast cell lineage disease systemic mastocytosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0020333 MONDO:0016586 True aggressive systemic mastocytosis systemic mastocytosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0020334 MONDO:0005059 True mast cell leukemia leukemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0020334 MONDO:0016586 True mast cell leukemia systemic mastocytosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0020338 MONDO:0001705 True adult pure red cell aplasia pure red-cell aplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020347 MONDO:0016218 True acute inflammatory demyelinating polyradiculoneuropathy Guillain-Barre syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020348 MONDO:0016218 True acute motor and sensory axonal neuropathy Guillain-Barre syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020349 MONDO:0016218 True acute motor axonal neuropathy Guillain-Barre syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020398 MONDO:0019817 True congenital mitral stenosis congenital mitral valve insufficiency and/or stenosis SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020404 MONDO:0002254 True shone complex syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020481 MONDO:0018959 True myotonia fluctuans potassium-aggravated myotonia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020487 MONDO:0005823 True Pontiac fever legionellosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0020491 MONDO:0002254 True subcortical band heterotopia syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0020501 MONDO:0018087 True Crimean-Congo hemorrhagic fever viral hemorrhagic fever UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020511 MONDO:0004967 True precursor B-cell acute lymphoblastic leukemia acute lymphoblastic leukemia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0020326 MONDO:0018897 True lymphomatoid papulosis primary cutaneous CD30+ T-cell lymphoproliferative disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020327 MONDO:0009348 True classic Hodgkin lymphoma, nodular sclerosis type classic Hodgkin lymphoma UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020331 MONDO:0016586 True indolent systemic mastocytosis systemic mastocytosis UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0020332 MONDO:0016586 True systemic mastocytosis with an associated clonal hematologic non-mast cell lineage disease systemic mastocytosis UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0020333 MONDO:0016586 True aggressive systemic mastocytosis systemic mastocytosis UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0020334 MONDO:0005059 True mast cell leukemia leukemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0020334 MONDO:0016586 True mast cell leukemia systemic mastocytosis UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0020336 MONDO:0016830 True autosomal dominant Emery-Dreifuss muscular dystrophy Emery-Dreifuss muscular dystrophy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020336 MONDO:0021106 True autosomal dominant Emery-Dreifuss muscular dystrophy laminopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020337 MONDO:0019403 True congenital dyserythropoietic anemia type 1 congenital dyserythropoietic anemia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0020338 MONDO:0020113 True adult pure red cell aplasia primary acquired red cell aplasia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020340 MONDO:0017091 True bilateral perisylvian polymicrogyria bilateral polymicrogyria UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020341 MONDO:0002320 True periventricular nodular heterotopia congenital nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0020341 MONDO:0016292 True periventricular nodular heterotopia nodular neuronal heterotopia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020344 MONDO:0018940 True postsynaptic congenital myasthenic syndrome congenital myasthenic syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020347 MONDO:0016218 True acute inflammatory demyelinating polyradiculoneuropathy Guillain-Barre syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020348 MONDO:0016218 True acute motor and sensory axonal neuropathy Guillain-Barre syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020349 MONDO:0016218 True acute motor axonal neuropathy Guillain-Barre syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020352 MONDO:0007803 True multiple system atrophy, parkinsonian type multiple system atrophy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020359 MONDO:0007410 True congenital symblepharon isolated cryptophthalmia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0020360 MONDO:0007410 True complete cryptophthalmia isolated cryptophthalmia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0020361 MONDO:0007410 True partial cryptophthalmia isolated cryptophthalmia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0020362 MONDO:0007946 True inverse Marcus-Gunn phenomenon jaw-winking syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020363 MONDO:0020212 True honey-droplet corneal dystrophy superficial corneal dystrophy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020364 MONDO:0020214 True posterior polymorphous corneal dystrophy posterior corneal dystrophy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020365 MONDO:0020214 True congenital hereditary endothelial dystrophy type I posterior corneal dystrophy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020367 MONDO:0005338 True juvenile open angle glaucoma open-angle glaucoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0020367 MONDO:0018174 True juvenile open angle glaucoma hereditary glaucoma UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020369 MONDO:0018102 True Chandler syndrome corneal dystrophy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0020369 MONDO:0018988 True Chandler syndrome iridocorneal endothelial syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020370 MONDO:0018988 True Cogan-Reese syndrome iridocorneal endothelial syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020371 MONDO:0018988 True essential iris atrophy iridocorneal endothelial syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020372 MONDO:0020379 True early-onset sutural cataract early-onset zonular cataract UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020373 MONDO:0020377 True early-onset anterior polar cataract early-onset partial cataract UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020374 MONDO:0020377 True cerulean cataract early-onset partial cataract UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020376 MONDO:0020379 True early-onset nuclear cataract early-onset zonular cataract UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020377 MONDO:0011060 True early-onset partial cataract early-onset non-syndromic cataract UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020379 MONDO:0020377 True early-onset zonular cataract early-onset partial cataract UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020380 MONDO:0000426 True autosomal dominant cerebellar ataxia autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0020380 MONDO:0015547 True autosomal dominant cerebellar ataxia hereditary dementia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020380 MONDO:0024237 True autosomal dominant cerebellar ataxia inherited neurodegenerative disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020381 MONDO:0003004 True patterned macular dystrophy macular degeneration UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0020382 MONDO:0018973 True multifocal pattern dystrophy simulating fundus flavimaculatus patterned dystrophy of the retinal pigment epithelium UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020383 MONDO:0018973 True fundus pulverulentus patterned dystrophy of the retinal pigment epithelium UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020385 MONDO:0019443 True congenitally uncorrected transposition of the great arteries with coarctation dextro-looped transposition of the great arteries UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020386 MONDO:0018089 True double outlet right ventricle with subaortic or doubly committed ventricular septal defect with pulmonary stenosis double outlet right ventricle UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020387 MONDO:0018089 True double outlet right ventricle with subpulmonary ventricular septal defect double outlet right ventricle UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020388 MONDO:0018089 True double outlet right ventricle with non-committed subpulmonary ventricular septal defect double outlet right ventricle UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020389 MONDO:0020064 True pulmonary valve agenesis-ventricular septal defect-persistent ductus arteriosus syndrome pulmonary valve agenesis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020390 MONDO:0015239 True pulmonary artery coming from patent ductus arteriosus abnormal origin of the pulmonary artery UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020391 MONDO:0015239 True pulmonary artery coming from the aorta abnormal origin of the pulmonary artery UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020393 MONDO:0017727 True discrete fibromuscular subaortic stenosis fixed subaortic stenosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020394 MONDO:0017727 True tunnel subaortic stenosis fixed subaortic stenosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020395 MONDO:0017865 True valvar pulmonary stenosis congenital pulmonary valve stenosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020396 MONDO:0020289 True anomaly of the tricuspid valve chordae congenital tricuspid malformation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020397 MONDO:0020289 True parachute tricuspid valve congenital tricuspid malformation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020398 MONDO:0019817 True congenital mitral stenosis congenital mitral valve insufficiency and/or stenosis SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020399 MONDO:0019817 True congenital hypoplasia of the mitral valve annulus congenital mitral valve insufficiency and/or stenosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020400 MONDO:0019817 True congenital supravalvular mitral ring congenital mitral valve insufficiency and/or stenosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020401 MONDO:0019817 True congenital unguarded mitral orifice congenital mitral valve insufficiency and/or stenosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020402 MONDO:0019817 True congenital accessory mitral valve tissue congenital mitral valve insufficiency and/or stenosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020403 MONDO:0019817 True congenital mitral valve agenesis congenital mitral valve insufficiency and/or stenosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020404 MONDO:0019817 True shone complex congenital mitral valve insufficiency and/or stenosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020405 MONDO:0019818 True straddling and/or overriding mitral valve cleft mitral valve UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020407 MONDO:0015273 True complete atrioventricular canal-ventricle hypoplasia syndrome complete atrioventricular canal UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020408 MONDO:0015273 True complete atrioventricular canal-tetralogy of fallot syndrome complete atrioventricular canal UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020410 MONDO:0018082 True aorto-right ventricular tunnel aorto-ventricular tunnel UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020411 MONDO:0018082 True aorto-left ventricular tunnel aorto-ventricular tunnel UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020412 MONDO:0020292 True congenital patent ductus arteriosus aneurysm congenital anomaly of the great arteries UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020413 MONDO:0015236 True encircling double aortic arch aortic arch defects UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020414 MONDO:0015236 True persistent fifth aortic arch aortic arch defects UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020415 MONDO:0015236 True Kommerell diverticulum aortic arch defects UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020416 MONDO:0015236 True Neuhauser anomaly aortic arch defects UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020417 MONDO:0015236 True right aortic arch aortic arch defects UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020418 MONDO:0015236 True dysphagia lusoria aortic arch defects UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020419 MONDO:0020292 True pulmonary artery hypoplasia congenital anomaly of the great arteries UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020420 MONDO:0020292 True pulmonary branch stenosis congenital anomaly of the great arteries UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020423 MONDO:0015203 True stenosis or atrophy of the coronary ostium coronary artery congenital malformation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020425 MONDO:0015203 True abnormal number of coronary ostia coronary artery congenital malformation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020426 MONDO:0015203 True malposition of the coronary ostium coronary artery congenital malformation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020427 MONDO:0019512 True Laubry-Pezzi syndrome congenital heart malformation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020428 MONDO:0019512 True congenital Gerbode defect congenital heart malformation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020429 MONDO:0015450 True cor triatriatum dexter triatrial heart UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020430 MONDO:0015450 True cor triatriatum sinister triatrial heart UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020431 MONDO:0019512 True juxtaposition of the atrial appendages congenital heart malformation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020432 MONDO:0019512 True ectasia of the right atrial appendage congenital heart malformation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020433 MONDO:0019512 True ectasia of the left appendage congenital heart malformation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020434 MONDO:0006664 True atrial septal defect, ostium secundum type atrial septal defect UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020435 MONDO:0006664 True atrial septal defect, coronary sinus type atrial septal defect UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020436 MONDO:0006664 True atrial septal defect, sinus venosus type atrial septal defect UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020437 MONDO:0006664 True atrial septal defect, ostium primum type atrial septal defect UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020438 MONDO:0019512 True atrial septal aneurysm congenital heart malformation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020439 MONDO:0006664 True patent foramen ovale atrial septal defect UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0020440 MONDO:0019829 True persistent left superior vena cava connecting to the left-sided atrium congenital anomaly of superior vena cava UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020441 MONDO:0019829 True right superior vena cava connecting to left-sided atrium congenital anomaly of superior vena cava UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020442 MONDO:0019829 True left superior vena cava persisting to left-sided atrium congenital anomaly of superior vena cava UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020443 MONDO:0019829 True absence of innominate vein congenital anomaly of superior vena cava UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020444 MONDO:0019829 True subaortic course of innominate vein congenital anomaly of superior vena cava UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020445 MONDO:0019829 True agenesis of the superior vena cava congenital anomaly of superior vena cava UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020448 MONDO:0019830 True right inferior vena cava connecting to left-sided atrium congenital anomaly of the inferior vena cava UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020449 MONDO:0019830 True persistent eustachian valve congenital anomaly of the inferior vena cava UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020450 MONDO:0019830 True azygos continuation of the inferior vena cava congenital anomaly of the inferior vena cava UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020451 MONDO:0019830 True congenital stenosis of the inferior vena cava congenital anomaly of the inferior vena cava UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020452 MONDO:0019830 True inferior vena cava interruption congenital anomaly of the inferior vena cava UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020453 MONDO:0017705 True congenital partial pulmonary venous return anomaly congenital pulmonary venous return anomaly UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020454 MONDO:0017300 True congenital complete agenesis of pericardium congenital pericardium anomaly UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020455 MONDO:0017300 True congenital partial agenesis of pericardium congenital pericardium anomaly UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020456 MONDO:0017300 True pleuro-pericardial cyst congenital pericardium anomaly UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020458 MONDO:0019236 True hemolytic anemia due to erythrocyte adenosine deaminase overproduction inborn disorder of purine metabolism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020459 MONDO:0019050 True unstable hemoglobin disease inherited hemoglobinopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020463 MONDO:0020161 True isolated congenital ectropion congenital ectropion UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020466 MONDO:0019499 True monosomy X Turner syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020470 MONDO:0015161 True 49,XYYYY syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020472 MONDO:0019499 True Turner syndrome due to structural X chromosome anomalies Turner syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020474 MONDO:0018230 True cheirospondyloenchondromatosis skeletal dysplasia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020475 MONDO:0019287 True dermotrichic syndrome ectodermal dysplasia syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020476 MONDO:0017704 True mesial temporal lobe epilepsy with hippocampal sclerosis familial partial epilepsy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020478 MONDO:0016387 True Leber plus disease mitochondrial oxidative phosphorylation disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020480 MONDO:0004689 True sulfite oxidase deficiency due to molybdenum cofactor deficiency inborn metal metabolism disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0020480 MONDO:0019358 True sulfite oxidase deficiency due to molybdenum cofactor deficiency encephalopathy due to sulfite oxidase deficiency UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020481 MONDO:0018959 True myotonia fluctuans potassium-aggravated myotonia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020482 MONDO:0018959 True myotonia permanens potassium-aggravated myotonia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020483 MONDO:0018959 True acetazolamide-responsive myotonia potassium-aggravated myotonia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020487 MONDO:0005823 True Pontiac fever legionellosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0020488 MONDO:0019037 True atypical progressive supranuclear palsy syndrome progressive supranuclear palsy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020491 MONDO:0002320 True subcortical band heterotopia congenital nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0020494 MONDO:0016910 True oculootodental syndrome partial deletion of the long arm of chromosome 11 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020496 MONDO:0017410 True familial porencephaly porencephaly UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0020497 MONDO:0021055 True Turcot syndrome with polyposis classic familial adenomatous polyposis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020500 MONDO:0018087 True Marburg hemorrhagic fever viral hemorrhagic fever UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020501 MONDO:0018087 True Crimean-Congo hemorrhagic fever viral hemorrhagic fever UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020502 MONDO:0018093 True yellow fever arbovirus fever UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020504 MONDO:0019052 True hereditary recurrent myoglobinuria inborn errors of metabolism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020505 MONDO:0019046 True ravine syndrome leukodystrophy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020507 MONDO:0800448 True leukoencephalopathy with vanishing white matter 1 leukoencephalopathy with vanishing white matter UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0020508 MONDO:0017987 True primary syringomyelia syringomyelia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020509 MONDO:0017987 True secondary syringomyelia syringomyelia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020510 MONDO:0020508 True idiopathic syringomyelia primary syringomyelia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020511 MONDO:0004967 True precursor B-cell acute lymphoblastic leukemia acute lymphoblastic leukemia UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0020512 MONDO:0004967 True precursor T-cell acute lymphoblastic leukemia acute lymphoblastic leukemia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020513 MONDO:0003669 True spermatocytic seminoma testicular seminoma UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0020516 MONDO:0006451 True thymic neuroendocrine carcinoma thymic carcinoma UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020517 MONDO:0018310 True eosinophilic granuloma Langerhans cell histiocytosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020519 MONDO:0018310 True hand-Schuller-Christian disease Langerhans cell histiocytosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020525 MONDO:0016391 True transient neonatal diabetes mellitus neonatal diabetes mellitus UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0020525 MONDO:0016391 True transient neonatal diabetes mellitus neonatal diabetes mellitus UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0020526 MONDO:0018872 True acute megakaryoblastic leukemia in down syndrome acute megakaryoblastic leukemia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020527 MONDO:0020528 True ectopic Cushing syndrome ACTH-dependent Cushing syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0020528 MONDO:0006793 True ACTH-dependent Cushing syndrome hyperpituitarism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0020528 MONDO:0018912 True ACTH-dependent Cushing syndrome Cushing syndrome SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020530 MONDO:0019146 True Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR1 deficiency inherited susceptibility to mycobacterial diseases UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020532 MONDO:0000314 True spirillary rat-bite fever primary bacterial infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0020532 MONDO:0006941 True spirillary rat-bite fever rat-bite fever UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020533 MONDO:0000314 True streptobacillary rat-bite fever primary bacterial infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0020533 MONDO:0006941 True streptobacillary rat-bite fever rat-bite fever UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020535 MONDO:0017853 True house allergic alveolitis hypersensitivity pneumonitis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020538 MONDO:0018171 True malignant dysgerminomatous germ cell tumor of ovary malignant germ cell tumor of ovary UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020539 MONDO:0018201 True extragonadal non-dysgerminomatous germ cell tumor extragonadal germ cell tumor UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020540 MONDO:0021657 True ovarian gynandroblastoma ovarian sex cord-stromal tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020541 MONDO:0018172 True maligant granulosa cell tumor of ovary malignant sex cord stromal tumor of ovary UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020541 MONDO:0018172 True maligant granulosa cell tumor of ovary malignant sex cord stromal tumor of ovary UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020541 MONDO:0023283 True maligant granulosa cell tumor of ovary ovarian granulosa cell tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020546 MONDO:0013730 True acute graft versus host disease graft versus host disease UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020547 MONDO:0013730 True chronic graft versus host disease graft versus host disease UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020542 MONDO:0018172 True malignant Sertoli-Leydig cell tumor of ovary malignant sex cord stromal tumor of ovary UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020543 MONDO:0018172 True theca steroid-producing cell malignant tumor of ovary, not further specified malignant sex cord stromal tumor of ovary UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020544 MONDO:0001881 True streptococcal toxic-shock syndrome toxic shock syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020545 MONDO:0001881 True staphylococcal toxic-shock syndrome toxic shock syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020545 MONDO:0017592 True staphylococcal toxic-shock syndrome staphylococcal toxemia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020546 MONDO:0013730 True acute graft versus host disease graft versus host disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020547 MONDO:0013730 True chronic graft versus host disease graft versus host disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020549 MONDO:0006248 True invasive hydatidiform mole hydatidiform mole UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020550 MONDO:0001416 True gestational choriocarcinoma female reproductive organ cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0020550 MONDO:0005207 True gestational choriocarcinoma choriocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0020550 MONDO:0018944 True gestational choriocarcinoma gestational trophoblastic neoplasm UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0020552 MONDO:0018944 True placental site trophoblastic tumor gestational trophoblastic neoplasm UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0020555 MONDO:0011014 True pleuropulmonary blastoma type 1 pleuropulmonary blastoma UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020556 MONDO:0011014 True pleuropulmonary blastoma type 2 pleuropulmonary blastoma UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020557 MONDO:0011014 True pleuropulmonary blastoma type 3 pleuropulmonary blastoma UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020549 MONDO:0018944 True invasive hydatidiform mole gestational trophoblastic neoplasm UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020550 MONDO:0001416 True gestational choriocarcinoma female reproductive organ cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0020550 MONDO:0005207 True gestational choriocarcinoma choriocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0020550 MONDO:0018944 True gestational choriocarcinoma gestational trophoblastic neoplasm UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0020552 MONDO:0005207 True placental site trophoblastic tumor choriocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0020552 MONDO:0018944 True placental site trophoblastic tumor gestational trophoblastic neoplasm UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0020553 MONDO:0015925 True secondary pulmonary hemosiderosis interstitial lung disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020554 MONDO:0020553 True Heiner syndrome secondary pulmonary hemosiderosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020555 MONDO:0011014 True pleuropulmonary blastoma type 1 pleuropulmonary blastoma UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020556 MONDO:0011014 True pleuropulmonary blastoma type 2 pleuropulmonary blastoma UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020557 MONDO:0011014 True pleuropulmonary blastoma type 3 pleuropulmonary blastoma UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020558 MONDO:0018993 True autosomal dominant Charcot-Marie-Tooth disease type 2K Charcot-Marie-Tooth disease type 2 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020560 MONDO:0002728 True atypical teratoid rhabdoid tumor rhabdoid tumor UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0020562 MONDO:0005060 True pleomorphic liposarcoma liposarcoma UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0020563 MONDO:0005060 True dedifferentiated liposarcoma liposarcoma UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0020572 MONDO:0002254 True complex regional pain syndrome type 2 syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0020561 MONDO:0005060 True myxoid/round cell liposarcoma liposarcoma UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020562 MONDO:0005060 True pleomorphic liposarcoma liposarcoma UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0020563 MONDO:0005060 True dedifferentiated liposarcoma liposarcoma UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0020568 MONDO:0019147 True cutaneous myiasis myiasis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020571 MONDO:0019362 True relapsing epidemic typhus epidemic louse-borne typhus UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020572 MONDO:0019369 True complex regional pain syndrome type 2 complex regional pain syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0020574 MONDO:0003000 True central nervous system nongerminomatous germ cell tumor central nervous system germ cell tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020575 MONDO:0005477 True polymorphic ventricular tachycardia ventricular tachycardia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020576 MONDO:0018882 True cutaneous vasculitis vasculitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020577 MONDO:0003751 True childhood gonadal germ cell tumor childhood germ cell tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020579 MONDO:0021166 True mucositis inflammatory disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020580 MONDO:0005040 True germinomatous germ cell tumor germ cell tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020581 MONDO:0006359 True benign PEComa neoplasm with perivascular epithelioid cell differentiation UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020581 MONDO:0044335 True benign PEComa benign soft tissue neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020582 MONDO:0021629 True benign uterine ligament neoplasm uterine ligament neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020584 MONDO:0002280 True anemia due to enzyme disorder anemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020585 MONDO:0020584 True anemia due to erythrocyte enzyme disorder anemia due to enzyme disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020586 MONDO:0002242 True factor V deficiency coagulation protein disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020587 MONDO:0018660 True factor XI deficiency hemophilia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020588 MONDO:0006359 True lung PEComa neoplasm with perivascular epithelioid cell differentiation UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020588 MONDO:0021117 True lung PEComa lung neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020589 MONDO:0018201 True cardiac germ cell tumor extragonadal germ cell tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020589 MONDO:0021209 True cardiac germ cell tumor heart neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020590 MONDO:0005113 True mycobacterial infectious disease bacterial infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020592 MONDO:0024623 True disorder of pharynx otorhinolaryngologic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020593 MONDO:0024666 True trichoblastoma benign epithelial skin neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020594 MONDO:0003569 True abducens nerve disorder cranial nerve neuropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020596 MONDO:0004993 True mucin-producing carcinoma carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020598 MONDO:0005020 True malabsorption syndrome intestinal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020599 MONDO:0002242 True acquired coagulation factor deficiency coagulation protein disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020600 MONDO:0002258 True acute pharyngitis pharyngitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020601 MONDO:0006009 True mosquito-borne viral encephalitis viral encephalitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020602 MONDO:0003847 True Simpson-Golabi-Behmel syndrome type 1 hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0020604 MONDO:0000425 True X-linked dominant disease X-linked disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0020605 MONDO:0000425 True X-linked recessive disease X-linked disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0020607 MONDO:0008323 True Liddle syndrome 1 Liddle syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0020628 MONDO:0020629 True microcephaly, growth restriction, and increased sister chromatid exchange 2 microcephaly, growth restriction and increased sister chromatid exchange UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0020633 MONDO:0004992 True anaplastic cancer cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -8480,14 +15993,12 @@ MONDO:0020635 MONDO:0020633 True anaplastic meningioma anaplastic cancer UNSUPPO MONDO:0020635 MONDO:0020634 True anaplastic meningioma grade III meningioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020635 MONDO:0021322 True anaplastic meningioma malignant tumor of meninges UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020638 MONDO:0005012 True superficial spreading melanoma cutaneous melanoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020640 MONDO:0019956 True autoimmune encephalitis encephalitis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020640 MONDO:0019956 True autoimmune encephalitis encephalitis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020641 MONDO:0005070 True respiratory tract neoplasm neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020641 MONDO:0005087 True respiratory tract neoplasm respiratory system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020644 MONDO:0003987 True lung non-Hodgkin lymphoma lung lymphoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020644 MONDO:0018908 True lung non-Hodgkin lymphoma non-Hodgkin lymphoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020645 MONDO:0017198 True autosomal dominant osteopetrosis osteopetrosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020646 MONDO:0018908 True ocular adnexal lymphoma non-Hodgkin lymphoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020649 MONDO:0004433 True warty carcinoma of the penis papillary carcinoma of the penis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020649 MONDO:0020656 True warty carcinoma of the penis human papillomavirus-related penile squamous cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020653 MONDO:0001704 True vaginal adenocarcinoma vaginal glandular neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020653 MONDO:0004970 True vaginal adenocarcinoma adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -8496,6 +16007,7 @@ MONDO:0020654 MONDO:0040679 True renal pelvis/ureter urothelial carcinoma urothe MONDO:0020656 MONDO:0018352 True human papillomavirus-related penile squamous cell carcinoma squamous cell carcinoma of penis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020656 MONDO:0020657 True human papillomavirus-related penile squamous cell carcinoma human papillomavirus-related squamous cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020657 MONDO:0005096 True human papillomavirus-related squamous cell carcinoma squamous cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020658 MONDO:0004030 True infiltrating ureter transitional cell carcinoma ureter transitional cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0020660 MONDO:0002631 True osteoblastic osteosarcoma conventional osteosarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020661 MONDO:0018078 True undifferentiated round cell sarcoma soft tissue sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020662 MONDO:0016093 True borderline ovarian serous tumor borderline epithelial tumor of ovary UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -8503,47 +16015,41 @@ MONDO:0020662 MONDO:0037255 True borderline ovarian serous tumor ovarian serous MONDO:0020663 MONDO:0020664 True malignant spindle cell neoplasm spindle cell neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020664 MONDO:0005070 True spindle cell neoplasm neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020665 MONDO:0004992 True high grade malignant neoplasm cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020667 MONDO:0008803 True Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis Antley-Bixler syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0020669 MONDO:0005289 True paranasal sinus cancer paranasal sinus neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020673 MONDO:0000473 True arterial occlusion arterial disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020675 MONDO:0005020 True ischemic bowel disorder intestinal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020678 MONDO:0005365 True sensorineural hearing loss disorder hearing loss disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020679 MONDO:0005365 True conductive hearing loss disorder hearing loss disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020680 MONDO:0002465 True acute bronchiolitis bronchiolitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020686 MONDO:0001039 True acute tonsillitis tonsillitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020690 MONDO:0004320 True adult glioblastoma adult infiltrating astrocytic neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020690 MONDO:0018177 True adult glioblastoma glioblastoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020693 MONDO:0002412 True glycogen storage disease due to liver phosphorylase kinase deficiency disorder of glycogen metabolism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020694 MONDO:0000521 True salivary gland epithelial myoepithelial carcinoma salivary gland carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020694 MONDO:0003389 True salivary gland epithelial myoepithelial carcinoma epithelial-myoepithelial carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020695 MONDO:0006497 True hypotonic cerebral palsy cerebral palsy UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020696 MONDO:0005066 True vitamin B12 deficiency metabolic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020696 MONDO:0042976 True vitamin B12 deficiency vitamin B deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020697 MONDO:0003389 True lung epithelial-myoepithelial carcinoma epithelial-myoepithelial carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020697 MONDO:0005138 True lung epithelial-myoepithelial carcinoma lung carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020706 MONDO:0002181 True Heberden's node exostosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020707 MONDO:0005365 True central hearing loss hearing loss disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020708 MONDO:0005559 True brachial amyotrophic diplegia neurodegenerative disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020710 MONDO:0021166 True amnionitis inflammatory disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020712 MONDO:0010765 True 46,XY sex reversal 1 46,XY complete gonadal dysgenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0020713 MONDO:0009937 True pulmonary venoocclusive disease 1 pulmonary venoocclusive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0020721 MONDO:0020099 True X-linked sideroblastic anemia 1 inherited sideroblastic anemia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0020712 MONDO:0010765 True 46,XY sex reversal 1 46,XY complete gonadal dysgenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0020713 MONDO:0009937 True pulmonary venoocclusive disease 1 pulmonary venoocclusive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0020716 MONDO:0010132 True familial thyroid dyshormonogenesis 1 familial thyroid dyshormonogenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0020717 MONDO:0003847 True autosomal dominant wooly hair hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0020717 MONDO:0008686 True autosomal dominant wooly hair isolated familial wooly hair disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0020721 MONDO:0000425 True X-linked sideroblastic anemia 1 X-linked disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0020721 MONDO:0017754 True X-linked sideroblastic anemia 1 inborn disorder of porphyrin metabolism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020721 MONDO:0020099 True X-linked sideroblastic anemia 1 inherited sideroblastic anemia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0020724 MONDO:0031037 True cerebral cavernous malformation 1 famililal cerebral cavernous malformations UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0020725 MONDO:0002280 True anemia due to chronic disorder anemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020726 MONDO:0000608 True tubulointerstitial kidney disease, autosomal dominant, 2 familial juvenile hyperuricemic nephropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0020726 MONDO:0008264 True tubulointerstitial kidney disease, autosomal dominant, 2 autosomal dominant medullary cystic kidney disease with or without hyperuricemia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020730 MONDO:0007275 True carpal tunnel syndrome 1 carpal tunnel syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0020731 MONDO:0005108 True arbovirus infection viral infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020733 MONDO:0008511 True proximal symphalangism 1A proximal symphalangism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0020733 MONDO:0008511 True proximal symphalangism 1A proximal symphalangism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0020735 MONDO:0009049 True ACTH-independent macronodular adrenal hyperplasia 1 Cushing syndrome due to macronodular adrenal hyperplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0020737 MONDO:0043878 True optic atrophy 10 with or without ataxia, intellectual disability, and seizures hereditary optic atrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0020738 MONDO:0007990 True multiple benign circumferential skin creases on limbs 1 multiple benign circumferential skin creases on limbs UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0020739 MONDO:0000212 True hypercalcemia, infantile, 1 hypercalcemia, infantile UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0020740 MONDO:0010293 True ectodermal dysplasia and immunodeficiency 1 ectodermal dysplasia and immune deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0020743 MONDO:0019460 True mixed phenotype acute leukemia acute leukemia of ambiguous lineage UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020744 MONDO:0000467 True Mobitz type I atrioventricular block second-degree atrioventricular block UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020740 MONDO:0010293 True ectodermal dysplasia and immunodeficiency 1 ectodermal dysplasia and immune deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0020743 MONDO:0019460 True mixed phenotype acute leukemia acute leukemia of ambiguous lineage UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020746 MONDO:0020937 True contractures, pterygia, and variable skeletal fusions syndrome 1B contractures, pterygia, and variable skeletal fusions syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0020747 MONDO:0008863 True sitosterolemia 1 sitosterolemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0020748 MONDO:0008863 True sitosterolemia 2 sitosterolemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0020749 MONDO:0009092 True polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 1 polycystic lipomembranous osteodysplasia with sclerosing leukoencephaly UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0020750 MONDO:0009092 True polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 2 polycystic lipomembranous osteodysplasia with sclerosing leukoencephaly UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0020751 MONDO:0021272 True orthostatic hypotension 2 inherited orthostatic hypotension UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0020756 MONDO:0000700 True migraine, familial hemiplegic, 1 familial hemiplegic migraine UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0020756 MONDO:0000700 True migraine, familial hemiplegic, 1 familial hemiplegic migraine UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED MONDO:0020760 MONDO:0002529 True skin squamous cell carcinoma in situ skin squamous cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020760 MONDO:0004641 True skin squamous cell carcinoma in situ skin carcinoma in situ UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020760 MONDO:0004693 True skin squamous cell carcinoma in situ squamous carcinoma in situ UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -8552,7 +16058,6 @@ MONDO:0020762 MONDO:0017868 True diencephalic-mesencephalic junction dysplasia s MONDO:0020763 MONDO:0020774 True Menke-Hennekam syndrome 1 Menke-Hennekam syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0020765 MONDO:0033352 True neuropathy, congenital hypomyelinating, 2 neuropathy, congenital hypomelinating UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0020766 MONDO:0033352 True neuropathy, congenital hypomyelinating, 3 neuropathy, congenital hypomelinating UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0020767 MONDO:0005693 True cauda equina syndrome with neurogenic bladder cauda equina syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020769 MONDO:0020774 True Menke-Hennekam syndrome 2 Menke-Hennekam syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0020770 MONDO:0020771 True spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 3 spinocerebellar ataxia, autosomal recessive, with axonal neuropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0020775 MONDO:0060720 True congenital disorder of glycosylation with defective fucosylation 1 congenital disorder of glycosylation with defective fucosylation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING @@ -8560,26 +16065,23 @@ MONDO:0020777 MONDO:0060720 True congenital disorder of glycosylation with defec MONDO:0020778 MONDO:0014980 True cone-rod dystrophy and hearing loss 1 cone-rod dystrophy and hearing loss UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0020780 MONDO:0014980 True cone-rod dystrophy and hearing loss 2 cone-rod dystrophy and hearing loss UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0020781 MONDO:0014960 True encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 1 encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0020782 MONDO:0002508 True chronic gingivitis gingivitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020783 MONDO:0012016 True capillary malformation-arteriovenous malformation 1 capillary malformation-arteriovenous malformation syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0020785 MONDO:0012016 True capillary malformation-arteriovenous malformation 2 capillary malformation-arteriovenous malformation syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0020787 MONDO:0014631 True hypomagnesemia, seizures, and intellectual disability 1 hypomagnesemia, seizures, and intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0020788 MONDO:0014631 True hypomagnesemia, seizures, and intellectual disability 2 hypomagnesemia, seizures, and intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0020789 MONDO:0009626 True pseudo-TORCH syndrome 1 pseudo-TORCH syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0020790 MONDO:0011810 True gaze palsy, familial horizontal, with progressive scoliosis 1 horizontal gaze palsy with progressive scoliosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0020791 MONDO:0007379 True corneal dystrophy, Meesmann, 1 Meesmann corneal dystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0020793 MONDO:0025193 True oculopharyngodistal myopathy 1 oculopharyngodistal myopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0020791 MONDO:0007379 True corneal dystrophy, Meesmann, 1 Meesmann corneal dystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0020793 MONDO:0025193 True oculopharyngodistal myopathy 1 oculopharyngodistal myopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED MONDO:0020794 MONDO:0005008 True colorectal medullary carcinoma colorectal adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020795 MONDO:0008394 True Silver-Russell syndrome 5 Silver-Russell syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0020796 MONDO:0008394 True Silver-Russell syndrome 1 Silver-Russell syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0020798 MONDO:0016390 True hypoparathyroidism, familial isolated, 2 familial hypoparathyroidism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0020799 MONDO:0005626 True basal cell neoplasm epithelial neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020800 MONDO:0002562 True demyelinating disease of central nervous system demyelinating disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020801 MONDO:0002169 True rectal medullary carcinoma rectum adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020801 MONDO:0020794 True rectal medullary carcinoma colorectal medullary carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020804 MONDO:0004993 True basal cell carcinoma carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020804 MONDO:0020799 True basal cell carcinoma basal cell neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020805 MONDO:0020799 True benign basal cell neoplasm basal cell neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020807 MONDO:0021657 True ovarian sertoli-stromal cell tumor ovarian sex cord-stromal tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020808 MONDO:0002696 True testicular sertoli cell tumor Sertoli cell tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020808 MONDO:0003125 True testicular sertoli cell tumor testicular sex cord-stromal neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -8587,37 +16089,35 @@ MONDO:0020809 MONDO:0002696 True benign sertoli cell tumor Sertoli cell tumor UN MONDO:0020813 MONDO:0020808 True benign testicular sertoli cell tumor testicular sertoli cell tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020813 MONDO:0020809 True benign testicular sertoli cell tumor benign sertoli cell tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020813 MONDO:0021447 True benign testicular sertoli cell tumor benign neoplasm of testis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020820 MONDO:0000426 True distal arthrogryposis type 2B1 autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0020820 MONDO:0011128 True distal arthrogryposis type 2B1 Sheldon-hall syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0020831 MONDO:0015161 True congenital vertebral-cardiac-renal anomalies syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020837 MONDO:0014769 True oocyte maturation defect 5 inherited oocyte maturation defect UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0020838 MONDO:0005504 True anterior nasal diphtheria diphtheria UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020843 MONDO:0001217 True pseudomembranous diphtheritic conjunctivitis pseudomembranous conjunctivitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020845 MONDO:0000090 True progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 5 progressive external ophthalmoplegia with mitochondrial DNA deletions UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0020846 MONDO:0019502 True intellectual disability, autosomal recessive 64 autosomal recessive non-syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0020846 MONDO:0019502 True intellectual disability, autosomal recessive 64 autosomal recessive non-syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED MONDO:0020848 MONDO:0020645 True osteopetrosis, autosomal dominant 3 autosomal dominant osteopetrosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0020849 MONDO:0021094 True immunodeficiency 57 immunodeficiency disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0020850 MONDO:0019502 True intellectual disability, autosomal recessive 65 autosomal recessive non-syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0020851 MONDO:0004983 True spermatogenic failure 30 spermatogenic failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0020852 MONDO:0004983 True spermatogenic failure 31 spermatogenic failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0020850 MONDO:0019502 True intellectual disability, autosomal recessive 65 autosomal recessive non-syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0020851 MONDO:0004983 True spermatogenic failure 30 spermatogenic failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0020852 MONDO:0004983 True spermatogenic failure 31 spermatogenic failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED MONDO:0020854 MONDO:0008323 True Liddle syndrome 2 Liddle syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0020855 MONDO:0004983 True spermatogenic failure 32 spermatogenic failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0020855 MONDO:0004983 True spermatogenic failure 32 spermatogenic failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED MONDO:0020856 MONDO:0000159 True bone marrow failure syndrome 4 bone marrow failure syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0020857 MONDO:0009299 True ovarian dysgenesis 7 46 XX gonadal dysgenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0020920 MONDO:0005113 True escherichia coli infection bacterial infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020971 MONDO:0005297 True gonococcal urethritis urethritis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020977 MONDO:0005280 True granulomatous prostatitis prostatitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020979 MONDO:0021539 True pilosebaceous hamartoma hamartoma of skin appendage UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020980 MONDO:0020979 True hair nevus pilosebaceous hamartoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021001 MONDO:0006507 True hemochromatosis type 1 hereditary hemochromatosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0021009 MONDO:0000521 True salivary gland mucoepidermoid carcinoma salivary gland carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0020857 MONDO:0009299 True ovarian dysgenesis 7 46 XX gonadal dysgenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0021001 MONDO:0006507 True hemochromatosis type 1 hereditary hemochromatosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0021005 MONDO:0002254 True faciodigitogenital syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0021009 MONDO:0000521 True salivary gland mucoepidermoid carcinoma salivary gland carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0021010 MONDO:0006282 True skin lymphangiosarcoma lymphangiosarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021010 MONDO:0006414 True skin lymphangiosarcoma skin sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021013 MONDO:0018053 True trichothiodystrophy 4, nonphotosensitive trichothiodystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0021018 MONDO:0015151 True autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) muscular dystrophy, limb-girdle, autosomal dominant UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0021019 MONDO:0043209 True X-linked recessive ocular albinism albinism UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021023 MONDO:0019154 True complete androgen insensitivity syndrome androgen insensitivity syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0021032 MONDO:0021033 True herpes zoster with dermatitis of eyelid herpes zoster dermatitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021033 MONDO:0021201 True herpes zoster dermatitis skin infection UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021035 MONDO:0008756 True alopecia-intellectual disability syndrome 1 alopecia - intellectual disability syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0021036 MONDO:0005093 True keratosis pilaris skin disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021013 MONDO:0018053 True trichothiodystrophy 4, nonphotosensitive trichothiodystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0021018 MONDO:0015151 True autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) muscular dystrophy, limb-girdle, autosomal dominant UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0021019 MONDO:0017304 True X-linked recessive ocular albinism ocular albinism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021020 MONDO:0009044 True Crigler-Najjar syndrome type 1 Crigler-Najjar syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021022 MONDO:0017658 True hereditary hyperekplexia hyperekplexia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021022 MONDO:0019253 True hereditary hyperekplexia metabolic disease involving other neurotransmitter deficiency UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021023 MONDO:0019154 True complete androgen insensitivity syndrome androgen insensitivity syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0021029 MONDO:0021026 True hereditary sebaceous gland anomaly hereditary epidermal appendage anomaly UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021035 MONDO:0008756 True alopecia-intellectual disability syndrome 1 alopecia - intellectual disability syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED MONDO:0021038 MONDO:0005564 True Ewing sarcoma/peripheral primitive neuroectodermal tumor embryonal neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021039 MONDO:0021038 True extraskeletal Ewing sarcoma/peripheral primitive neuroectodermal tumor Ewing sarcoma/peripheral primitive neuroectodermal tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021040 MONDO:0002356 True pancreatic neoplasm pancreas disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -8632,7 +16132,7 @@ MONDO:0021046 MONDO:0021100 True breast fibroepithelial neoplasm breast neoplasm MONDO:0021047 MONDO:0005078 True breast phyllodes tumor phyllodes tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021047 MONDO:0021046 True breast phyllodes tumor breast fibroepithelial neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021048 MONDO:0003079 True benign mastocytoma mastocytoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021048 MONDO:0005165 True benign mastocytoma benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0021048 MONDO:0005165 True benign mastocytoma benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0021049 MONDO:0002187 True vulvar neoplasm vulvar disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021049 MONDO:0021148 True vulvar neoplasm female reproductive system neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021050 MONDO:0001433 True vaginal neoplasm vaginal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -8640,14 +16140,12 @@ MONDO:0021050 MONDO:0021148 True vaginal neoplasm female reproductive system neo MONDO:0021052 MONDO:0000448 True parasympathetic paraganglioma paraganglioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021053 MONDO:0006239 True carotid body paraganglioma head and neck paraganglioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021053 MONDO:0021052 True carotid body paraganglioma parasympathetic paraganglioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021054 MONDO:0002129 True bone sarcoma bone cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0021054 MONDO:0002129 True bone sarcoma bone cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0021054 MONDO:0005089 True bone sarcoma sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0021056 MONDO:0021055 True familial adenomatous polyposis 1 classic familial adenomatous polyposis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0021060 MONDO:0003847 True RASopathy hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0021061 MONDO:0015356 True neurofibromatosis hereditary neoplastic syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021061 MONDO:0042983 True neurofibromatosis neurocutaneous syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021056 MONDO:0021055 True familial adenomatous polyposis 1 classic familial adenomatous polyposis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0021061 MONDO:0000426 True neurofibromatosis autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0021063 MONDO:0005401 True malignant colon neoplasm colonic neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021063 MONDO:0005575 True malignant colon neoplasm colorectal cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0021063 MONDO:0005575 True malignant colon neoplasm colorectal cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0021064 MONDO:0006239 True jugulotympanic paraganglioma head and neck paraganglioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021064 MONDO:0021052 True jugulotympanic paraganglioma parasympathetic paraganglioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021065 MONDO:0002037 True pleural neoplasm pleural disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -8658,13 +16156,12 @@ MONDO:0021067 MONDO:0021386 True mediastinal germ cell tumor neoplasm of mediast MONDO:0021068 MONDO:0005558 True ovarian neoplasm ovarian disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021068 MONDO:0021148 True ovarian neoplasm female reproductive system neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021069 MONDO:0002082 True malignant endocrine neoplasm endocrine gland neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021069 MONDO:0004992 True malignant endocrine neoplasm cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0021069 MONDO:0004992 True malignant endocrine neoplasm cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0021070 MONDO:0004667 True sublingual gland carcinoma sublingual gland cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021070 MONDO:0006284 True sublingual gland carcinoma major salivary gland carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021071 MONDO:0004382 True laryngeal neoplasm laryngeal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021072 MONDO:0000448 True sympathetic paraganglioma paraganglioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021072 MONDO:0005626 True sympathetic paraganglioma epithelial neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021073 MONDO:0045054 True paraneoplastic syndrome cancer-related condition UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021075 MONDO:0005079 True neoplastic polyp polyp UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021076 MONDO:0021040 True pancreatic exocrine neoplasm pancreatic neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021077 MONDO:0005070 True cystic neoplasm neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -8673,31 +16170,31 @@ MONDO:0021078 MONDO:0024276 True glandular papilloma glandular cell neoplasm UNS MONDO:0021079 MONDO:0005070 True childhood neoplasm neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021080 MONDO:0005385 True blood vessel neoplasm vascular disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021080 MONDO:0024296 True blood vessel neoplasm vascular neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021081 MONDO:0019956 True anti-NMDA receptor encephalitis encephalitis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021083 MONDO:0007614 True congenital fibrosis of extraocular muscles type 1 congenital fibrosis of extraocular muscles UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0021081 MONDO:0019956 True anti-NMDA receptor encephalitis encephalitis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021083 MONDO:0007614 True congenital fibrosis of extraocular muscles type 1 congenital fibrosis of extraocular muscles UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED MONDO:0021085 MONDO:0004298 True gastric neoplasm stomach disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021085 MONDO:0021223 True gastric neoplasm digestive system neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021086 MONDO:0002021 True gingival neoplasm gingival disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021088 MONDO:0016642 True papillary meningioma meningioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021089 MONDO:0001406 True peripheral nervous system cancer peripheral nervous system neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021089 MONDO:0005872 True peripheral nervous system cancer nervous system cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021090 MONDO:0003570 True lipid-rich breast carcinoma lipid-rich carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0021090 MONDO:0003570 True lipid-rich breast carcinoma lipid-rich carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0021091 MONDO:0002369 True papillary cystadenoma cystadenoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021091 MONDO:0006349 True papillary cystadenoma papillary cystic neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021092 MONDO:0002156 True fallopian tube neoplasm fallopian tube disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021092 MONDO:0021148 True fallopian tube neoplasm female reproductive system neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021093 MONDO:0009032 True cranioectodermal dysplasia 1 cranioectodermal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0021094 MONDO:0005046 True immunodeficiency disease immune system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021093 MONDO:0009032 True cranioectodermal dysplasia 1 cranioectodermal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED MONDO:0021096 MONDO:0005626 True papillary epithelial neoplasm epithelial neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021097 MONDO:0000620 True intraductal breast papilloma breast benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0021097 MONDO:0000620 True intraductal breast papilloma breast benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0021097 MONDO:0002060 True intraductal breast papilloma intraductal papilloma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0021097 MONDO:0002061 True intraductal breast papilloma intraductal papillary breast neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0021097 MONDO:0002061 True intraductal breast papilloma intraductal papillary breast neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0021098 MONDO:0021096 True papillomatosis papillary epithelial neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021099 MONDO:0021098 True intraductal papillomatosis papillomatosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021100 MONDO:0002657 True breast neoplasm breast disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021101 MONDO:0015066 True appendix L-cell glucagon-like peptide-producing neuroendocrine tumor neuroendocrine tumor of the appendix, well differentiated, low or intermediate grade UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021102 MONDO:0005078 True prostate phyllodes tumor phyllodes tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021102 MONDO:0021259 True prostate phyllodes tumor prostate neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021107 MONDO:0003406 True narcolepsy sleep-wake disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0021109 MONDO:0003064 True inverted urothelial papilloma inverted transitional cell papilloma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021109 MONDO:0004041 True inverted urothelial papilloma urothelial papilloma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021110 MONDO:0002381 True sweat gland adenoma sweat gland neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -8706,39 +16203,37 @@ MONDO:0021110 MONDO:0021634 True sweat gland adenoma epithelial skin neoplasm UN MONDO:0021111 MONDO:0001926 True ureter neoplasm ureteral disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021111 MONDO:0021066 True ureter neoplasm urinary system neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021112 MONDO:0003319 True scrotum cancer scrotum neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021113 MONDO:0005275 True respiratory failure lung disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0021113 MONDO:0005275 True respiratory failure lung disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0021114 MONDO:0021049 True Bartholin gland neoplasm vulvar neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021117 MONDO:0005275 True lung neoplasm lung disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021117 MONDO:0020641 True lung neoplasm respiratory tract neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021117 MONDO:0021350 True lung neoplasm neoplasm of thorax UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021118 MONDO:0005020 True intestinal neoplasm intestinal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0021118 MONDO:0005020 True intestinal neoplasm intestinal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0021118 MONDO:0021223 True intestinal neoplasm digestive system neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021119 MONDO:0002082 True non-functioning endocrine neoplasm endocrine gland neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021120 MONDO:0002082 True functioning endocrine neoplasm endocrine gland neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021121 MONDO:0021080 True hemangioendothelioma blood vessel neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021123 MONDO:0019060 True Ewing sarcoma/peripheral primitive neuroectodermal tumor of bone bone neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021123 MONDO:0021038 True Ewing sarcoma/peripheral primitive neuroectodermal tumor of bone Ewing sarcoma/peripheral primitive neuroectodermal tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021129 MONDO:0005328 True microphthalmia eye disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0021132 MONDO:0001741 True tertiary hyperparathyroidism hyperparathyroidism UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021133 MONDO:0020599 True acquired factor XIII deficiency acquired coagulation factor deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021134 MONDO:0002247 True acquired factor X deficiency factor X deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021134 MONDO:0020599 True acquired factor X deficiency acquired coagulation factor deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021129 MONDO:0005328 True microphthalmia eye disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0021138 MONDO:0005374 True bone marrow cancer bone marrow neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021143 MONDO:0005070 True melanocytic neoplasm neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021144 MONDO:0002229 True ovarian clear cell tumor ovarian epithelial tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021148 MONDO:0002263 True female reproductive system neoplasm female reproductive system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021148 MONDO:0006054 True female reproductive system neoplasm reproductive system neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021162 MONDO:0006504 True carotenemia acquired metabolic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0021163 MONDO:0005240 True kidney neoplasm kidney disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021163 MONDO:0021066 True kidney neoplasm urinary system neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021165 MONDO:0004970 True Paget disease adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021167 MONDO:0005336 True myositis disease myopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0021168 MONDO:0005106 True hibernoma lipoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021169 MONDO:0006500 True epithelioid hemangioma hemangioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0021175 MONDO:0007019 True herpetic vulvovaginitis vulvovaginitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021169 MONDO:0006500 True epithelioid hemangioma hemangioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0021172 MONDO:0010979 True Timothy syndrome, atypical type Timothy syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021176 MONDO:0016264 True autoimmune hepatitis type 2 autoimmune hepatitis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021187 MONDO:0005066 True hyperlipidemia metabolic disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021192 MONDO:0005586 True odontogenic neoplasm head and neck neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021192 MONDO:0006999 True odontogenic neoplasm tooth disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021193 MONDO:0021248 True neuroepithelial neoplasm nervous system neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021205 MONDO:0024623 True disorder of ear otorhinolaryngologic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021209 MONDO:0005267 True heart neoplasm heart disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021209 MONDO:0021350 True heart neoplasm neoplasm of thorax UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021209 MONDO:0024757 True heart neoplasm cardiovascular neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -8794,7 +16289,7 @@ MONDO:0021253 MONDO:0005281 True gallbladder neoplasm gallbladder disorder UNSUP MONDO:0021254 MONDO:0021353 True corpus uteri neoplasm tumor of uterus UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021258 MONDO:0001898 True choroid neoplasm optic choroid disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021258 MONDO:0021225 True choroid neoplasm uvea neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021259 MONDO:0003105 True prostate neoplasm prostate disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0021259 MONDO:0003105 True prostate neoplasm prostate disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0021259 MONDO:0006054 True prostate neoplasm reproductive system neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021271 MONDO:0000502 True villous adenoma of colon villous adenoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021271 MONDO:0000527 True villous adenoma of colon colon adenoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -8902,7 +16397,6 @@ MONDO:0021372 MONDO:0021374 True neoplasm of temporal lobe neoplasm of cerebral MONDO:0021373 MONDO:0021374 True neoplasm of parietal lobe neoplasm of cerebral hemisphere UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021374 MONDO:0021211 True neoplasm of cerebral hemisphere brain neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021375 MONDO:0004251 True tumor of duodenum small intestine neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021377 MONDO:0006572 True hypertrophic lichen planus lichen planus UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021378 MONDO:0021209 True neoplasm of endocardium heart neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021379 MONDO:0021209 True neoplasm of epicardium heart neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021380 MONDO:0021209 True neoplasm of myocardium heart neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -8916,27 +16410,10 @@ MONDO:0021388 MONDO:0021350 True neoplasm of chest wall neoplasm of thorax UNSUP MONDO:0021389 MONDO:0021052 True neoplasm of aortic body parasympathetic paraganglioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021390 MONDO:0005079 True polyp of ureter polyp UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021390 MONDO:0021111 True polyp of ureter ureter neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021392 MONDO:0005079 True polyp of large intestine polyp UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021394 MONDO:0001433 True polyp of vagina vaginal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021394 MONDO:0005079 True polyp of vagina polyp SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021396 MONDO:0002263 True polyp of vulva female reproductive system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021396 MONDO:0005079 True polyp of vulva polyp SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021398 MONDO:0021392 True polyp of rectum polyp of large intestine UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021400 MONDO:0021392 True polyp of colon polyp of large intestine UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021394 MONDO:0005079 True polyp of vagina polyp SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021396 MONDO:0005079 True polyp of vulva polyp SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021402 MONDO:0005079 True polyp of external auditory canal polyp UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021402 MONDO:0021235 True polyp of external auditory canal external ear neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021404 MONDO:0001735 True polyp of sphenoidal sinus paranasal sinus disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021404 MONDO:0005079 True polyp of sphenoidal sinus polyp UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021408 MONDO:0001735 True polyp of frontal sinus paranasal sinus disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021408 MONDO:0005079 True polyp of frontal sinus polyp UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021412 MONDO:0001735 True polyp of maxillary sinus paranasal sinus disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021412 MONDO:0005079 True polyp of maxillary sinus polyp UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021416 MONDO:0005079 True polyp of gallbladder polyp UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021416 MONDO:0005281 True polyp of gallbladder gallbladder disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021418 MONDO:0001735 True polyp of ethmoidal sinus paranasal sinus disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021418 MONDO:0005079 True polyp of ethmoidal sinus polyp UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021420 MONDO:0004382 True polyp of vocal cord laryngeal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021420 MONDO:0005079 True polyp of vocal cord polyp UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021424 MONDO:0005094 True hemangiopericytoma of skin hemangiopericytoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021427 MONDO:0021333 True squamous cell carcinoma of lip carcinoma of lip UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021429 MONDO:0004958 True squamous cell carcinoma of floor of mouth oral cavity squamous cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -8945,11 +16422,13 @@ MONDO:0021431 MONDO:0004645 True squamous cell carcinoma of buccal mucosa cheek MONDO:0021431 MONDO:0004958 True squamous cell carcinoma of buccal mucosa oral cavity squamous cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021437 MONDO:0005106 True lipoma of stomach lipoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021437 MONDO:0021449 True lipoma of stomach benign neoplasm of stomach UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021439 MONDO:0000627 True benign neoplasm of pituitary gland benign endocrine neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0021439 MONDO:0017611 True benign neoplasm of pituitary gland pituitary tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021439 MONDO:0021451 True benign neoplasm of pituitary gland benign neoplasm of brain UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021440 MONDO:0002531 True benign neoplasm of skin skin neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021441 MONDO:0021076 True benign neoplasm of exocrine pancreas pancreatic exocrine neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021441 MONDO:0021470 True benign neoplasm of exocrine pancreas benign neoplasm of pancreas UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021443 MONDO:0000630 True benign neoplasm of lymph node immune system organ benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0021443 MONDO:0024339 True benign neoplasm of lymph node lymph node neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021444 MONDO:0003062 True benign neoplasm of large intestine intestinal benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021445 MONDO:0005165 True benign neoplasm of oral cavity benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -8983,6 +16462,7 @@ MONDO:0021461 MONDO:0021358 True benign neoplasm of hypopharynx neoplasm of hypo MONDO:0021461 MONDO:0021523 True benign neoplasm of hypopharynx benign neoplasm of pharynx UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021462 MONDO:0002165 True benign neoplasm of rectum rectal neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021462 MONDO:0021444 True benign neoplasm of rectum benign neoplasm of large intestine UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021463 MONDO:0000627 True benign neoplasm of parathyroid gland benign endocrine neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0021463 MONDO:0021360 True benign neoplasm of parathyroid gland tumor of parathyroid gland UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021464 MONDO:0002278 True benign neoplasm of cecum benign colon neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021464 MONDO:0005694 True benign neoplasm of cecum cecal neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -9043,7 +16523,7 @@ MONDO:0021499 MONDO:0021451 True benign neoplasm of cerebellum benign neoplasm o MONDO:0021500 MONDO:0036696 True benign neoplasm of spleen spleen neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021501 MONDO:0003062 True benign neoplasm of small intestine intestinal benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021501 MONDO:0004251 True benign neoplasm of small intestine small intestine neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021503 MONDO:0000385 True benign neoplasm of gallbladder benign digestive system neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0021503 MONDO:0000385 True benign neoplasm of gallbladder benign digestive system neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0021503 MONDO:0021253 True benign neoplasm of gallbladder gallbladder neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021505 MONDO:0021378 True benign neoplasm of endocardium neoplasm of endocardium UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021505 MONDO:0021450 True benign neoplasm of endocardium benign neoplasm of heart UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -9098,16 +16578,15 @@ MONDO:0021535 MONDO:0019954 True pancreatic neuroendocrine tumor G1 pancreatic n MONDO:0021537 MONDO:0015459 True undifferentiated carcinoma of nasopharynx nasopharyngeal carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021538 MONDO:0004958 True verrucous carcinoma of oral cavity oral cavity squamous cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021538 MONDO:0006006 True verrucous carcinoma of oral cavity verrucous carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021539 MONDO:0006499 True hamartoma of skin appendage hamartoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021540 MONDO:0006499 True hamartoma of lung hamartoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021540 MONDO:0021117 True hamartoma of lung lung neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021542 MONDO:0006500 True hemangioma of choroid hemangioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021542 MONDO:0021487 True hemangioma of choroid benign neoplasm of choroid UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021543 MONDO:0006500 True hemangioma of gingiva hemangioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021543 MONDO:0021491 True hemangioma of gingiva benign neoplasm of gum UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021545 MONDO:0002616 True myomatous neoplasm mesenchymal cell neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021547 MONDO:0019507 True amelogenesis imperfecta type 3B amelogenesis imperfecta UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0021559 MONDO:0003664 True non-autoimmune hemolytic anemia hemolytic anemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021547 MONDO:0019507 True amelogenesis imperfecta type 3B amelogenesis imperfecta UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0021548 MONDO:0011060 True total early-onset cataract early-onset non-syndromic cataract UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021553 MONDO:0002565 True transverse myelitis myelitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0021571 MONDO:0007462 True multiple sclerosis, susceptibility to 1 multiple sclerosis, susceptibility to UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0021573 MONDO:0014769 True oocyte maturation defect 2 inherited oocyte maturation defect UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0021574 MONDO:0014769 True oocyte maturation defect 3 inherited oocyte maturation defect UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING @@ -9130,7 +16609,7 @@ MONDO:0021632 MONDO:0021211 True primary brain neoplasm brain neoplasm UNSUPPORT MONDO:0021633 MONDO:0021631 True cerebral astrocytoma brain astrocytoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021634 MONDO:0002531 True epithelial skin neoplasm skin neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021634 MONDO:0005626 True epithelial skin neoplasm epithelial neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021636 MONDO:0021042 True astrocytic tumor glioma UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021636 MONDO:0021042 True astrocytic tumor glioma UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021637 MONDO:0021042 True low grade glioma glioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021638 MONDO:0021636 True low grade astrocytic tumor astrocytic tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021638 MONDO:0021637 True low grade astrocytic tumor low grade glioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -9142,90 +16621,65 @@ MONDO:0021650 MONDO:0019496 True uterine corpus neuroendocrine neoplasm neuroend MONDO:0021650 MONDO:0021254 True uterine corpus neuroendocrine neoplasm corpus uteri neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021652 MONDO:0004970 True diffuse type adenocarcinoma adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021656 MONDO:0005040 True nongerminomatous germ cell tumor germ cell tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021657 MONDO:0006055 True ovarian sex cord-stromal tumor sex cord-stromal tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0021657 MONDO:0006055 True ovarian sex cord-stromal tumor sex cord-stromal tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0021657 MONDO:0021068 True ovarian sex cord-stromal tumor ovarian neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021658 MONDO:0005385 True vascular ectasia vascular disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021659 MONDO:0004993 True combined carcinoid and adenocarcinoma carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021661 MONDO:0005311 True coronary atherosclerosis atherosclerosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021662 MONDO:0002887 True bile duct neoplasm bile duct disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021663 MONDO:0005096 True sarcomatoid squamous cell carcinoma squamous cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021663 MONDO:0006406 True sarcomatoid squamous cell carcinoma sarcomatoid carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021666 MONDO:0005550 True ear infection infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021666 MONDO:0021166 True ear infection inflammatory disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021666 MONDO:0021205 True ear infection disorder of ear UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021681 MONDO:0005550 True sexually transmitted disease infectious disease SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021718 MONDO:0001824 True polyneuritis polyneuropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021718 MONDO:0002122 True polyneuritis neuritis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021736 MONDO:0024278 True proctosigmoiditis proctocolitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021750 MONDO:0005240 True pyonephrosis kidney disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021765 MONDO:0005071 True radiculitis nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021777 MONDO:0006955 True acute rheumatic heart disease rheumatic heart disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021783 MONDO:0002258 True streptococcal sore throat pharyngitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021681 MONDO:0005550 True sexually transmitted disease infectious disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021812 MONDO:0021489 True adnexal spiradenoma/cylindroma of a sweat gland benign neoplasm of sweat gland UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021879 MONDO:0020325 True small cell variant anaplastic large cell lymphoma anaplastic large cell lymphoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021895 MONDO:0002254 True temporomandibular joint dysfunction syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021902 MONDO:0005267 True aortopulmonary window heart disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021915 MONDO:0002254 True arakawa syndrome 2 syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021953 MONDO:0006052 True tuberculous fibrosis of lung pulmonary tuberculosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021960 MONDO:0001926 True ureteritis ureteral disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021977 MONDO:0006499 True basaloid follicular hamartoma hamartoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0022057 MONDO:0021192 True calcifying epithelial odontogenic tumor odontogenic neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0022103 MONDO:0005280 True chronic prostatitis prostatitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0022171 MONDO:0024467 True chromhidrosis apocrine sweat gland disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0022220 MONDO:0002254 True Parinaud syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0022293 MONDO:0002036 True vascular disorder of penis penile disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0022293 MONDO:0005385 True vascular disorder of penis vascular disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0022435 MONDO:0002254 True Mauriac syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0022538 MONDO:0004844 True leukoplakia of gingiva oral mucosa leukoplakia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0022173 MONDO:0016932 True chromosome 11q trisomy partial duplication of chromosome 11 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0022174 MONDO:0017277 True chromosome 12p deletion partial deletion of chromosome 12 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0022410 MONDO:0005308 True retinal ciliopathy ciliopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0022519 MONDO:0004496 True autoimmune myocarditis myocarditis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0022529 MONDO:0005784 True BK-virus nephropathy hantavirus hemorrhagic fever with renal syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0022578 MONDO:0004986 True childhood bladder carcinoma urinary bladder carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0022642 MONDO:0005369 True childhood carcinoid tumor carcinoid tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0022697 MONDO:0006497 True athetoid cerebral palsy cerebral palsy SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0022735 MONDO:0005262 True choroid plexus cyst central nervous system cyst UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0022749 MONDO:0005093 True non-neoplastic nevus skin disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0022642 MONDO:0021079 True childhood carcinoid tumor childhood neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0022697 MONDO:0006497 True athetoid cerebral palsy cerebral palsy SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0022742 MONDO:0004979 True occupational asthma asthma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0022754 MONDO:0016879 True chromosome 17p deletion partial deletion of chromosome 17 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0022756 MONDO:0016866 True chromosome 1q deletion partial deletion of chromosome 1 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0022762 MONDO:0016869 True chromosome 4 short arm deletion partial deletion of chromosome 4 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0022772 MONDO:0005055 True classic Kaposi sarcoma Kaposi's sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0022859 MONDO:0005267 True cor biloculare heart disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0022963 MONDO:0016729 True desmoplastic infantile astrocytoma mixed neuronal-glial tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0022965 MONDO:0016729 True desmoplastic infantile ganglioglioma mixed neuronal-glial tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0022993 MONDO:0004782 True dipsogenic diabetes insipidus diabetes insipidus UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0023023 MONDO:0004926 True neonatal dacryocystitis dacryocystitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0022993 MONDO:0004782 True dipsogenic diabetes insipidus diabetes insipidus UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0023069 MONDO:0002467 True enlarged vestibular aqueduct syndrome inner ear disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0023122 MONDO:0005159 True familial prostate carcinoma prostate carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0023161 MONDO:0004496 True viral myocarditis myocarditis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0023164 MONDO:0005904 True viral pericarditis pericarditis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0023206 MONDO:0019954 True functional pancreatic neuroendocrine tumor pancreatic neuroendocrine tumor UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0023188 MONDO:0018381 True Freiberg disease osteochondrosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0023206 MONDO:0019954 True functional pancreatic neuroendocrine tumor pancreatic neuroendocrine tumor UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0023206 MONDO:0021120 True functional pancreatic neuroendocrine tumor functioning endocrine neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0023232 MONDO:0002815 True giant cell myocarditis acute myocarditis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0023227 MONDO:0004782 True gestational diabetes insipidus diabetes insipidus UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0023273 MONDO:0011934 True pigmented dermatofibrosarcoma protuberans dermatofibrosarcoma protuberans UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0023283 MONDO:0006036 True ovarian granulosa cell tumor granulosa cell tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0023283 MONDO:0021657 True ovarian granulosa cell tumor ovarian sex cord-stromal tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0023297 MONDO:0005083 True guttate psoriasis psoriasis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0023415 MONDO:0002026 True congenital candidiasis candidiasis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0023483 MONDO:0021167 True infectious myositis myositis disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0023557 MONDO:0002234 True infective vaginitis vaginitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0023557 MONDO:0005550 True infective vaginitis infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0023595 MONDO:0016107 True congenital myotonic dystrophy myotonic dystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0023597 MONDO:0018955 True laryngeal papillomatosis recurrent respiratory papillomatosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0023599 MONDO:0005516 True mesomelic dysplasia osteochondrodysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0023601 MONDO:0018479 True non-classic congenital adrenal hyperplasia congenital adrenal hyperplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0023603 MONDO:0003900 True hereditary disorder of connective tissue connective tissue disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0023619 MONDO:0005012 True lentigo maligna melanoma cutaneous melanoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0023628 MONDO:0002519 True levator syndrome anus disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0023644 MONDO:0002038 True lip and oral cavity carcinoma head and neck carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0023655 MONDO:0021094 True immunodeficiency 14b, autosomal recessive immunodeficiency disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0023657 MONDO:0100172 True intellectual developmental disorder, autosomal dominant 65 intellectual disability, autosomal dominant UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0023659 MONDO:0100062 True developmental and epileptic encephalopathy 96 developmental and epileptic encephalopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0023659 MONDO:0100062 True developmental and epileptic encephalopathy 96 developmental and epileptic encephalopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED MONDO:0023660 MONDO:0019623 True angioedema, hereditary, 6 hereditary angioedema UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0023662 MONDO:0019313 True lymphatic malformation 10 lymphatic malformation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0023664 MONDO:0004983 True spermatogenic failure 54 spermatogenic failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0023670 MONDO:0015229 True Bardet-Biedl syndrome 20 Bardet-Biedl syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0023671 MONDO:0025193 True oculopharyngodistal myopathy 3 oculopharyngodistal myopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0023664 MONDO:0004983 True spermatogenic failure 54 spermatogenic failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0023670 MONDO:0015229 True Bardet-Biedl syndrome 20 Bardet-Biedl syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0023671 MONDO:0025193 True oculopharyngodistal myopathy 3 oculopharyngodistal myopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED MONDO:0023682 MONDO:0006239 True tympanic paraganglioma head and neck paraganglioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0023726 MONDO:0005744 True mediastinal yolk sac tumor yolk sac tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0023726 MONDO:0006298 True mediastinal yolk sac tumor mediastinal malignant germ cell tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0023865 MONDO:0003085 True corneal infection keratitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0024182 MONDO:0006676 True dry beriberi beriberi UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0024183 MONDO:0006676 True wet beriberi beriberi UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0024227 MONDO:0006580 True miliaria pustulosa miliaria UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0024228 MONDO:0006580 True miliaria profunda miliaria UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0024229 MONDO:0006580 True miliaria crystallina miliaria UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0024235 MONDO:0037254 True Brenner tumor transitional cell neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0024237 MONDO:0005559 True inherited neurodegenerative disorder neurodegenerative disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0024239 MONDO:0004995 True congenital anomaly of cardiovascular system cardiovascular disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0024240 MONDO:0005506 True eccrine carcinoma eccrine sweat gland cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0024240 MONDO:0005506 True eccrine carcinoma eccrine sweat gland cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0024240 MONDO:0005524 True eccrine carcinoma sweat gland carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0024245 MONDO:0024240 True ductal eccrine adenocarcinoma eccrine carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0024246 MONDO:0021110 True syringofibroadenoma sweat gland adenoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -9233,42 +16687,34 @@ MONDO:0024246 MONDO:0024247 True syringofibroadenoma benign eccrine neoplasm UNS MONDO:0024246 MONDO:0024666 True syringofibroadenoma benign epithelial skin neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0024247 MONDO:0002090 True benign eccrine neoplasm eccrine sweat gland neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0024247 MONDO:0021489 True benign eccrine neoplasm benign neoplasm of sweat gland UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0024252 MONDO:0015653 True global developmental delay-neuro-ophthalmological abnormalities-seizures-intellectual disability syndrome monogenic epilepsy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0024257 MONDO:0020128 True hereditary motor neuron disease motor neuron disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0024264 MONDO:0000045 True hypothyroidism, congenital, nongoitrous, 2 hypothyroidism, congenital, nongoitrous UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0024265 MONDO:0007473 True Duane syndrome type 1 Duane retraction syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0024266 MONDO:0011827 True patent ductus arteriosus 3 patent ductus arteriosus UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0024276 MONDO:0005626 True glandular cell neoplasm epithelial neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0024279 MONDO:0000918 True chronic endometritis endometritis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0024280 MONDO:0005578 True polyarticular arthritis arthritic joint disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0024281 MONDO:0024280 True juvenile chronic polyarthritis polyarticular arthritis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0024282 MONDO:0003756 True mucinous ovarian cancer ovarian mucinous neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0024282 MONDO:0018364 True mucinous ovarian cancer malignant epithelial tumor of ovary UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0024286 MONDO:0000629 True benign blood vessel neoplasm cardiovascular organ benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0024286 MONDO:0021080 True benign blood vessel neoplasm blood vessel neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0024290 MONDO:0002025 True enuresis psychiatric disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0024292 MONDO:0004335 True gastrointestinal polyp digestive system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0024292 MONDO:0005079 True gastrointestinal polyp polyp UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0024296 MONDO:0024757 True vascular neoplasm cardiovascular neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0024300 MONDO:0005520 True hypophosphatemic rickets rickets UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0024301 MONDO:0006504 True acquired mineral metabolism disease acquired metabolic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0024303 MONDO:0002875 True external hirudiniasis parasitic ectoparasitic infectious disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0024305 MONDO:0006504 True acquired hyperprolactinemia acquired metabolic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0024306 MONDO:0006504 True acquired lactic acidosis acquired metabolic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0024309 MONDO:0019941 True neuropathy, hereditary sensory and autonomic, type 2A hereditary sensory and autonomic neuropathy type 2 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0024312 MONDO:0024311 True cancer of short bone of upper limb cancer affecting bone of limb skeleton SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0024313 MONDO:0005113 True staphylococcal infection bacterial infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0024315 MONDO:0016047 True parasitic endophthalmitis endophthalmitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0024316 MONDO:0003117 True physiological malfunction arising from mental factor somatoform disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0024320 MONDO:0002467 True inner ear neoplasm inner ear disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0024320 MONDO:0021233 True inner ear neoplasm ear neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0024323 MONDO:0018327 True glomangiomyoma glomus tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0024326 MONDO:0003308 True pleural adenomatoid tumor pleural mesothelioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0024326 MONDO:0004230 True pleural adenomatoid tumor adenomatoid tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0024326 MONDO:0021457 True pleural adenomatoid tumor benign neoplasm of pleura UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0024327 MONDO:0001106 True chronic renal failure syndrome kidney failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0024327 MONDO:0005300 True chronic renal failure syndrome chronic kidney disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0024330 MONDO:0005441 True infectious otitis media otitis media UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0024330 MONDO:0021666 True infectious otitis media ear infection UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0024331 MONDO:0005575 True colorectal carcinoma colorectal cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0024331 MONDO:0005575 True colorectal carcinoma colorectal cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0024331 MONDO:0006181 True colorectal carcinoma digestive system carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0024332 MONDO:0011786 True perennial allergic rhinitis allergic rhinitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0024336 MONDO:0002198 True vulvar adenocarcinoma vulvar glandular neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0024336 MONDO:0004970 True vulvar adenocarcinoma adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0024336 MONDO:0005215 True vulvar adenocarcinoma vulvar carcinoma UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0024336 MONDO:0004970 True vulvar adenocarcinoma adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0024336 MONDO:0005215 True vulvar adenocarcinoma vulvar carcinoma UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0024337 MONDO:0021066 True urothelial neoplasm urinary system neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0024337 MONDO:0037254 True urothelial neoplasm transitional cell neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0024338 MONDO:0024276 True mucinous neoplasm glandular cell neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -9276,8 +16722,6 @@ MONDO:0024339 MONDO:0002334 True lymph node neoplasm hematopoietic and lymphoid MONDO:0024339 MONDO:0004928 True lymph node neoplasm lymph node disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0024340 MONDO:0005072 True retinal neuroblastoma neuroblastoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0024341 MONDO:0021231 True retinal cell neoplasm retina neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0024352 MONDO:0005108 True viral respiratory tract infection viral infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0024354 MONDO:0005132 True cytomegalovirus pneumonia cytomegalovirus infection UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0024361 MONDO:0003406 True circadian rhythm sleep disorder sleep-wake disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0024377 MONDO:0024361 True circadian rhythm sleep disorder, delayed sleep phase type circadian rhythm sleep disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0024378 MONDO:0024361 True circadian rhythm sleep disorder, advanced sleep phase type circadian rhythm sleep disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -9287,10 +16731,11 @@ MONDO:0024382 MONDO:0024361 True circadian rhythm sleep disorder, shift work typ MONDO:0024386 MONDO:0003050 True large cell lung carcinoma, clear cell variant lung large cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0024387 MONDO:0000646 True benign ovarian sex cord-stromal tumor ovarian benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0024387 MONDO:0021657 True benign ovarian sex cord-stromal tumor ovarian sex cord-stromal tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0024422 MONDO:0021945 True auditory perceptual disorders hearing disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0024429 MONDO:0002254 True Alice in Wonderland syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0024387 MONDO:0024988 True benign ovarian sex cord-stromal tumor sex cord-stromal benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0024457 MONDO:0017998 True neurodegeneration with brain iron accumulation 2A PLA2G6-associated neurodegeneration UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0024457 MONDO:0020127 True neurodegeneration with brain iron accumulation 2A hereditary peripheral neuropathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0024461 MONDO:0024286 True angiomatosis benign blood vessel neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0024463 MONDO:0009299 True ovarian dysgenesis 1 46 XX gonadal dysgenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0024463 MONDO:0009299 True ovarian dysgenesis 1 46 XX gonadal dysgenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED MONDO:0024464 MONDO:0013099 True pituitary hormone deficiency, combined, 1 combined pituitary hormone deficiencies, genetic form UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0024465 MONDO:0012580 True surfactant metabolism dysfunction, pulmonary, 2 hereditary pulmonary alveolar proteinosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0024466 MONDO:0011090 True facial paresis, hereditary congenital, 1 isolated hereditary congenital facial paralysis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING @@ -9302,14 +16747,7 @@ MONDO:0024474 MONDO:0021074 True intraepithelial neoplasia precancerous conditio MONDO:0024475 MONDO:0002532 True squamous cell intraepithelial neoplasia squamous cell neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0024475 MONDO:0024474 True squamous cell intraepithelial neoplasia intraepithelial neoplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0024477 MONDO:0002514 True liver and intrahepatic bile duct neoplasm hepatobiliary neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0024477 MONDO:0005154 True liver and intrahepatic bile duct neoplasm liver disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0024478 MONDO:0006499 True mesenchymal hamartoma hamartoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0024482 MONDO:0021539 True eccrine sweat gland hamartoma hamartoma of skin appendage UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0024483 MONDO:0005043 True urothelial hyperplasia hyperplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0024485 MONDO:0024483 True papillary urothelial hyperplasia urothelial hyperplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0024487 MONDO:0005550 True nail infection infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0024496 MONDO:0024489 True tumor grade 2 or 3, general grading system general tumor grading characteristic UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0024497 MONDO:0024489 True tumor grade 3 or 4, general grading system general tumor grading characteristic UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0024477 MONDO:0005154 True liver and intrahepatic bile duct neoplasm liver disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0024498 MONDO:0100242 True glioma susceptibility 1 glioma susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0024499 MONDO:0019060 True vascular bone neoplasm bone neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0024499 MONDO:0024296 True vascular bone neoplasm vascular neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -9317,18 +16755,17 @@ MONDO:0024501 MONDO:0001236 True appendix neuroendocrine neoplasm appendiceal ne MONDO:0024502 MONDO:0021253 True gallbladder neuroendocrine neoplasm gallbladder neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0024502 MONDO:0024503 True gallbladder neuroendocrine neoplasm digestive system neuroendocrine neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0024503 MONDO:0004335 True digestive system neuroendocrine neoplasm digestive system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0024503 MONDO:0019496 True digestive system neuroendocrine neoplasm neuroendocrine neoplasm UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0024503 MONDO:0019496 True digestive system neuroendocrine neoplasm neuroendocrine neoplasm UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0024503 MONDO:0021223 True digestive system neuroendocrine neoplasm digestive system neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0024504 MONDO:0021535 True enterochromaffin cell serotonin-producing pancreatic neuroendocrine tumor pancreatic neuroendocrine tumor G1 UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0024506 MONDO:0007034 True Adams-Oliver syndrome 1 Adams-Oliver syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0024507 MONDO:0007119 True aniridia 1 isolated aniridia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0024508 MONDO:0013229 True epilepsy, hot water, 1 hot water reflex epilepsy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0024508 MONDO:0013229 True epilepsy, hot water, 1 hot water reflex epilepsy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED MONDO:0024517 MONDO:0008075 True schwannomatosis 1 schwannomatosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0024519 MONDO:0018470 True renal hypodysplasia/aplasia 1 renal agenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0024520 MONDO:0018470 True renal hypodysplasia/aplasia 3 renal agenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0024521 MONDO:0007031 True aortic aneurysm, familial abdominal, 1 familial abdominal aortic aneurysm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0024522 MONDO:0007101 True amyloidosis, primary localized cutaneous, 1 familial primary localized cutaneous amyloidosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0024523 MONDO:0007194 True aortic valve disease 1 familial bicuspid aortic valve UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0024523 MONDO:0007194 True aortic valve disease 1 familial bicuspid aortic valve UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED MONDO:0024524 MONDO:0000736 True dyschromatosis universalis hereditaria 1 dyschromatosis universalis hereditaria UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0024526 MONDO:0000200 True Zimmermann-Laband syndrome 1 Zimmermann-Laband syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0024527 MONDO:0007671 True glomerulopathy with fibronectin deposits 1 fibronectin glomerulopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING @@ -9338,22 +16775,25 @@ MONDO:0024531 MONDO:0008051 True myopathy, tubular aggregate, 1 tubular aggregat MONDO:0024532 MONDO:0008163 True otofaciocervical syndrome 1 otofaciocervical syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0024533 MONDO:0017148 True pulmonary hypertension, primary, 1 heritable pulmonary arterial hypertension UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0024535 MONDO:0008429 True Singleton-Merten syndrome 1 Singleton-Merten dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0024536 MONDO:0008733 True glucocorticoid deficiency 1 familial glucocorticoid deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0024537 MONDO:0008891 True Brown-Vialetto-van Laere syndrome 1 riboflavin transporter deficiency UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0024536 MONDO:0008733 True glucocorticoid deficiency 1 familial glucocorticoid deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0024537 MONDO:0008891 True Brown-Vialetto-van Laere syndrome 1 riboflavin transporter deficiency UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED MONDO:0024538 MONDO:0008947 True basal ganglia calcification, idiopathic, 1 bilateral striopallidodentate calcinosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0024539 MONDO:0008982 True choroidal dystrophy, central areolar, 1 central areolar choroidal dystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0024540 MONDO:0002441 True Jervell and Lange-Nielsen syndrome 1 Jervell and Lange-Nielsen syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0024541 MONDO:0009105 True trichohepatoenteric syndrome 1 trichohepatoenteric syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0024541 MONDO:0009105 True trichohepatoenteric syndrome 1 trichohepatoenteric syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED MONDO:0024542 MONDO:0009133 True cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 1 cerebellar ataxia, intellectual disability, and dysequilibrium UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0024543 MONDO:0009242 True brittle cornea syndrome 1 brittle cornea syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0024545 MONDO:0009685 True Miyoshi muscular dystrophy 1 Miyoshi myopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0024545 MONDO:0009685 True Miyoshi muscular dystrophy 1 Miyoshi myopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED MONDO:0024546 MONDO:0016620 True hypertrophic osteoarthropathy, primary, autosomal recessive, 1 primary hypertrophic osteoarthropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0024547 MONDO:0009832 True pancreatic agenesis 1 pancreatic agenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0024548 MONDO:0010033 True peeling skin syndrome 1 generalized peeling skin syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0024549 MONDO:0000170 True microphthalmia with coloboma 1 microphthalmia, isolated, with coloboma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0024550 MONDO:0015942 True frontometaphyseal dysplasia 1 frontometaphyseal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0024552 MONDO:0010672 True linear skin defects with multiple congenital anomalies 1 linear skin defects with multiple congenital anomalies UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0024553 MONDO:0000863 True myopathy, lactic acidosis, and sideroblastic anemia 1 myopathy, lactic acidosis, and sideroblastic anemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0024554 MONDO:0010924 True D-2-hydroxyglutaric aciduria 1 D-2-hydroxyglutaric aciduria UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0024550 MONDO:0015942 True frontometaphyseal dysplasia 1 frontometaphyseal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0024551 MONDO:0010627 True X-linked lymphoproliferative disease due to SH2D1A deficiency X-linked lymphoproliferative syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0024552 MONDO:0010672 True linear skin defects with multiple congenital anomalies 1 linear skin defects with multiple congenital anomalies UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0024553 MONDO:0000863 True myopathy, lactic acidosis, and sideroblastic anemia 1 myopathy, lactic acidosis, and sideroblastic anemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0024554 MONDO:0010924 True D-2-hydroxyglutaric aciduria 1 D-2-hydroxyglutaric aciduria UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0024555 MONDO:0011391 True megalencephalic leukoencephalopathy with subcortical cysts 1 megalencephalic leukoencephalopathy with subcortical cysts UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0024556 MONDO:0020310 True epilepsy, familial focal, with variable foci 1 familial focal epilepsy with variable foci UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0024557 MONDO:0011457 True ataxia-telangiectasia-like disorder 1 ataxia-telangiectasia-like disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0024558 MONDO:0011555 True radioulnar synostosis with amegakaryocytic thrombocytopenia 1 radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING @@ -9362,36 +16802,31 @@ MONDO:0024560 MONDO:0011827 True PDA1 patent ductus arteriosus UNSUPPORTED-MISSI MONDO:0024562 MONDO:0012061 True sick sinus syndrome 1 familial sick sinus syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0024564 MONDO:0012815 True cerebroretinal microangiopathy with calcifications and cysts 1 Coats plus syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0024565 MONDO:0013311 True ectodermal dysplasia-syndactyly syndrome 1 ectodermal dysplasia-syndactyly syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0024566 MONDO:0000032 True febrile seizures, familial, 11 febrile seizures, familial UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0024566 MONDO:0000032 True febrile seizures, familial, 11 febrile seizures, familial UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0024566 MONDO:0005071 True febrile seizures, familial, 11 nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0024567 MONDO:0014176 True hypotonia, infantile, with psychomotor retardation and characteristic facies 1 hypotonia, infantile, with psychomotor retardation and characteristic facies UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0024568 MONDO:0000023 True infantile liver failure syndrome 1 infantile liver failure UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0024571 MONDO:0024572 True AIDS-related disorder immunodeficiency-related disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0024573 MONDO:0005045 True familial hypertrophic cardiomyopathy hypertrophic cardiomyopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0024568 MONDO:0000023 True infantile liver failure syndrome 1 infantile liver failure UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0024573 MONDO:0005045 True familial hypertrophic cardiomyopathy hypertrophic cardiomyopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0024582 MONDO:0003150 True male reproductive system neoplasm male reproductive system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0024582 MONDO:0006054 True male reproductive system neoplasm reproductive system neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0024607 MONDO:0019950 True congenital muscular dystrophy with cataracts and intellectual disability congenital muscular dystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0024608 MONDO:0002428 True dientamoebiasis protozoa infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0024609 MONDO:0002195 True vulvar squamous cell carcinoma vulvar squamous neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0024609 MONDO:0005096 True vulvar squamous cell carcinoma squamous cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0024609 MONDO:0005215 True vulvar squamous cell carcinoma vulvar carcinoma UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0024612 MONDO:0004985 True manic bipolar affective disorder bipolar disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0024613 MONDO:0002050 True bipolar depression depressive disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0024613 MONDO:0004985 True bipolar depression bipolar disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0024614 MONDO:0002050 True neurotic depression depressive disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0024609 MONDO:0005096 True vulvar squamous cell carcinoma squamous cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0024609 MONDO:0005215 True vulvar squamous cell carcinoma vulvar carcinoma UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0024615 MONDO:0005157 True T-cell and NK-cell neoplasm lymphoid neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0024619 MONDO:0002602 True central nervous system infectious disorder central nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0024619 MONDO:0020010 True central nervous system infectious disorder infectious disorder of the nervous system UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0024621 MONDO:0005278 True serous cystadenocarcinoma serous adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0024621 MONDO:0005596 True serous cystadenocarcinoma cystadenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0024622 MONDO:0004970 True thyroid gland adenocarcinoma adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0024622 MONDO:0015075 True thyroid gland adenocarcinoma thyroid gland carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0024622 MONDO:0004970 True thyroid gland adenocarcinoma adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0024622 MONDO:0015075 True thyroid gland adenocarcinoma thyroid gland carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0024637 MONDO:0004992 True malignant soft tissue neoplasm cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0024637 MONDO:0006424 True malignant soft tissue neoplasm soft tissue neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0024638 MONDO:0003525 True pancreatic gastrinoma pancreatic gastrin-producing neuroendocrine tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0024638 MONDO:0023206 True pancreatic gastrinoma functional pancreatic neuroendocrine tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0024639 MONDO:0015062 True gastric enterochromaffin cell serotonin-producing neuroendocrine tumor gastric neuroendocrine tumor, well differentiated, low or intermediate grade UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0024642 MONDO:0015062 True gastric neuroendocrine tumor G2 gastric neuroendocrine tumor, well differentiated, low or intermediate grade UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0024643 MONDO:0005267 True myocardial disorder heart disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0024645 MONDO:0005070 True retroperitoneal neoplasm neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0024647 MONDO:0002118 True urolithiasis urinary system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0024647 MONDO:0002118 True urolithiasis urinary system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0024649 MONDO:0016167 True optic tract astrocytoma optic pathway glioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0024653 MONDO:0005586 True skull neoplasm head and neck neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0024653 MONDO:0024654 True skull neoplasm skull disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -9404,18 +16839,17 @@ MONDO:0024660 MONDO:0004972 True tubular adenoma adenoma UNSUPPORTED-MISSING UNS MONDO:0024661 MONDO:0004972 True tubulovillous adenoma adenoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0024662 MONDO:0005484 True colorectal tubulovillous adenoma colorectal adenoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0024662 MONDO:0024661 True colorectal tubulovillous adenoma tubulovillous adenoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0024664 MONDO:0024575 True hypertension, pregnancy-induced pregnancy disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0024666 MONDO:0021440 True benign epithelial skin neoplasm benign neoplasm of skin UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0024666 MONDO:0021634 True benign epithelial skin neoplasm epithelial skin neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0024666 MONDO:0036976 True benign epithelial skin neoplasm benign epithelial neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0024673 MONDO:0002013 True skin lymphangioma lymphangioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0024674 MONDO:0021058 True Pancoast syndrome neoplastic syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0024675 MONDO:0019004 True adult kidney Wilms tumor kidney Wilms tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0024676 MONDO:0019004 True childhood kidney Wilms tumor kidney Wilms tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0024676 MONDO:0036511 True childhood kidney Wilms tumor childhood malignant kidney neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0024677 MONDO:0005048 True pancreatic insulinoma pancreatic insulin-producing neuroendocrine tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0024677 MONDO:0023206 True pancreatic insulinoma functional pancreatic neuroendocrine tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0024685 MONDO:0004643 True Philadelphia-positive myelogenous leukemia myeloid leukemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0024686 MONDO:0002400 True tenosynovial giant cell tumor, diffuse type synovitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0024686 MONDO:0002522 True tenosynovial giant cell tumor, diffuse type tenosynovial giant cell tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0024686 MONDO:0024715 True tenosynovial giant cell tumor, diffuse type benign synovial neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0024711 MONDO:0002367 True malignant mixed epithelial stromal tumor of the kidney kidney cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -9430,7 +16864,7 @@ MONDO:0024757 MONDO:0004995 True cardiovascular neoplasm cardiovascular disorder MONDO:0024757 MONDO:0005070 True cardiovascular neoplasm neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0024770 MONDO:0031384 True autoinflammatory syndrome, familial, X-linked, Behcet-like 2 autoinflammatory syndrome, familial, Behcet-like UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0024771 MONDO:0018949 True myopathy, distal, 7, adult-onset, X-linked distal myopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0024772 MONDO:0020119 True intellectual developmental disorder, X-linked, syndromic, Pilorge type X-linked syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0024772 MONDO:0020119 True intellectual developmental disorder, X-linked, syndromic, Pilorge type X-linked syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED MONDO:0024773 MONDO:0004983 True spermatogenic failure, X-linked, 4 spermatogenic failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0024777 MONDO:0021094 True immunodeficiency 98 with autoinflammation, X-linked immunodeficiency disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0024781 MONDO:0021094 True immunodeficiency 102 immunodeficiency disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING @@ -9455,23 +16889,29 @@ MONDO:0024885 MONDO:0037255 True malignant ovarian serous tumor ovarian serous t MONDO:0024886 MONDO:0006071 True serous adenofibroma adenofibroma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0024890 MONDO:0021193 True pineal parenchymal cell neoplasm neuroepithelial neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0024890 MONDO:0021232 True pineal parenchymal cell neoplasm pineal body neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0024892 MONDO:0006424 True soft tissue amyloid neoplasm soft tissue neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0024892 MONDO:0019065 True soft tissue amyloid neoplasm amyloidosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0025353 MONDO:0100062 True developmental and epileptic encephalopathy, 90 developmental and epileptic encephalopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0025354 MONDO:0004983 True spermatogenic failure, X-linked, 3 spermatogenic failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0024988 MONDO:0000383 True sex cord-stromal benign neoplasm benign reproductive system neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0025193 MONDO:0016106 True oculopharyngodistal myopathy progressive muscular dystrophy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0025193 MONDO:0018949 True oculopharyngodistal myopathy distal myopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS +MONDO:0025353 MONDO:0100062 True developmental and epileptic encephalopathy, 90 developmental and epileptic encephalopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0025354 MONDO:0004983 True spermatogenic failure, X-linked, 3 spermatogenic failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0025514 MONDO:0018882 True livedoid vasculopathy vasculitis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0025556 MONDO:0004784 True isocyanate induced asthma allergic asthma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0025690 MONDO:0100328 True microcephaly, epilepsy, and diabetes syndrome 2 microcephaly, epilepsy, and diabetes syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0025691 MONDO:0044807 True dystonia 30 inherited dystonia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0025699 MONDO:0015452 True Coffin-Siris syndrome 12 Coffin-Siris syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0025701 MONDO:0019046 True leukodystrophy, hypomyelinating, 22 leukodystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0025699 MONDO:0015452 True Coffin-Siris syndrome 12 Coffin-Siris syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0025701 MONDO:0019046 True leukodystrophy, hypomyelinating, 22 leukodystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED MONDO:0025708 MONDO:0025986 True megacystis-microcolon-intestinal hypoperistalsis syndrome 2 megacystis-microcolon-intestinal hypoperistalsis syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0025712 MONDO:0019623 True angioedema, hereditary, 4 hereditary angioedema UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0025713 MONDO:0019623 True angioedema, hereditary, 7 hereditary angioedema UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0026720 MONDO:0100223 True mitochondrial complex 1 deficiency, nuclear type 12 mitochondrial complex I deficiency, nuclear type UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0026721 MONDO:0100223 True mitochondrial complex 1 deficiency, nuclear type 30 mitochondrial complex I deficiency, nuclear type UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0026720 MONDO:0100223 True mitochondrial complex 1 deficiency, nuclear type 12 mitochondrial complex I deficiency, nuclear type UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0026721 MONDO:0100223 True mitochondrial complex 1 deficiency, nuclear type 30 mitochondrial complex I deficiency, nuclear type UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0026722 MONDO:0003847 True Mullegama-Klein-Martinez syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0026723 MONDO:0019181 True intellectual developmental disorder, X-linked 108 non-syndromic X-linked intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0026724 MONDO:0020119 True Paganini-Miozzo syndrome X-linked syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0026726 MONDO:0002350 True nephrotic syndrome, type 20 familial nephrotic syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0026729 MONDO:0005500 True congenital disorder of glycosylation, type ICC congenital disorder of glycosylation type I UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0026724 MONDO:0020119 True Paganini-Miozzo syndrome X-linked syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0026726 MONDO:0002350 True nephrotic syndrome, type 20 familial nephrotic syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0026727 MONDO:0003847 True Shukla-Vernon syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0026729 MONDO:0005500 True congenital disorder of glycosylation, type ICC congenital disorder of glycosylation type I UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED MONDO:0026731 MONDO:0000045 True hypothyroidism, congenital, nongoitrous, 8 hypothyroidism, congenital, nongoitrous UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0026732 MONDO:0000045 True hypothyroidism, congenital, nongoitrous, 9 hypothyroidism, congenital, nongoitrous UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0026733 MONDO:0020119 True intellectual developmental disorder, X-linked, syndromic, Hackmann-Di Donato type X-linked syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING @@ -9479,90 +16919,100 @@ MONDO:0026762 MONDO:0025445 True Wieacker-Wolff syndrome, female-restricted Wiea MONDO:0026763 MONDO:0016296 True holoprosencephaly 13, X-linked holoprosencephaly UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0026765 MONDO:0005501 True congenital disorder of glycosylation, type IIr congenital disorder of glycosylation type II UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0026767 MONDO:0021094 True immunodeficiency 74, COVID-19-related, X-linked immunodeficiency disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0026771 MONDO:0100062 True developmental and epileptic encephalopathy, 85, with or without midline brain defects developmental and epileptic encephalopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0027048 MONDO:0033304 True deafness, Y-linked 2 nonsyndromic deafness, Y-linked UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0027407 MONDO:0012455 True Kleefstra syndrome 1 Kleefstra syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0027676 MONDO:0019719 True congenital anomalies of kidney and urinary tract 2 congenital anomaly of kidney and urinary tract UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0026771 MONDO:0100062 True developmental and epileptic encephalopathy, 85, with or without midline brain defects developmental and epileptic encephalopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0026777 MONDO:0019751 True VEXAS syndrome autoinflammatory syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0027048 MONDO:0033304 True deafness, Y-linked 2 nonsyndromic deafness, Y-linked UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0027069 MONDO:0014471 True mitochondrial complex 5 (ATP synthase) deficiency, mitochondrial type 1 mitochondrial proton-transporting ATP synthase complex deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED +MONDO:0027353 MONDO:0015780 True autosomal recessive dyskeratosis congenita 4 dyskeratosis congenita UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0027407 MONDO:0012455 True Kleefstra syndrome 1 Kleefstra syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0027676 MONDO:0019719 True congenital anomalies of kidney and urinary tract 2 congenital anomaly of kidney and urinary tract UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED MONDO:0027694 MONDO:0005144 True amyotrophic lateral sclerosis type 23 familial amyotrophic lateral sclerosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0027766 MONDO:0006573 True generalized lipodystrophy lipodystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0027767 MONDO:0006573 True partial lipodystrophy lipodystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0027772 MONDO:0004957 True lung colloid adenocarcinoma mucinous adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0027772 MONDO:0005061 True lung colloid adenocarcinoma lung adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0028226 MONDO:0018542 True autosomal recessive severe congenital neutropenia severe congenital neutropenia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0027766 MONDO:0006573 True generalized lipodystrophy lipodystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0027767 MONDO:0006573 True partial lipodystrophy lipodystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0027772 MONDO:0004957 True lung colloid adenocarcinoma mucinous adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0027772 MONDO:0005061 True lung colloid adenocarcinoma lung adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0028226 MONDO:0018542 True autosomal recessive severe congenital neutropenia severe congenital neutropenia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0029132 MONDO:0008323 True Liddle syndrome 3 Liddle syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0029133 MONDO:0015151 True muscular dystrophy, limb-girdle, autosomal dominant 4 muscular dystrophy, limb-girdle, autosomal dominant UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0029134 MONDO:0006025 True severe combined immunodeficiency due to CARMIL2 deficiency autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0029135 MONDO:0000173 True muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 8 muscular dystrophy-dystroglycanopathy, type C UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0029135 MONDO:0015152 True muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 8 autosomal recessive limb-girdle muscular dystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0029136 MONDO:0015152 True muscular dystrophy, limb-girdle, autosomal recessive 23 autosomal recessive limb-girdle muscular dystrophy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0029137 MONDO:0019587 True hearing loss, autosomal dominant 74 autosomal dominant nonsyndromic hearing loss UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0029138 MONDO:0100062 True developmental and epileptic encephalopathy, 67 developmental and epileptic encephalopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0029136 MONDO:0015152 True muscular dystrophy, limb-girdle, autosomal recessive 23 autosomal recessive limb-girdle muscular dystrophy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0029137 MONDO:0019587 True hearing loss, autosomal dominant 74 autosomal dominant nonsyndromic hearing loss UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0029138 MONDO:0100062 True developmental and epileptic encephalopathy, 67 developmental and epileptic encephalopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED MONDO:0029141 MONDO:0019501 True Usher syndrome, type 4 Usher syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0029142 MONDO:0019588 True hearing loss, autosomal recessive 111 hearing loss, autosomal recessive UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0029145 MONDO:0000358 True orofacial cleft 8 orofacial cleft UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0029147 MONDO:0004983 True spermatogenic failure 33 spermatogenic failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0029148 MONDO:0004983 True spermatogenic failure 34 spermatogenic failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0029142 MONDO:0019588 True hearing loss, autosomal recessive 111 hearing loss, autosomal recessive UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0029145 MONDO:0000358 True orofacial cleft 8 orofacial cleft UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0029147 MONDO:0004983 True spermatogenic failure 33 spermatogenic failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0029148 MONDO:0004983 True spermatogenic failure 34 spermatogenic failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0029465 MONDO:0100172 True intellectual developmental disorder, autosomal dominant 69 intellectual disability, autosomal dominant UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0030004 MONDO:0020836 True autism, susceptibility to, 20 autism, susceptiblity to UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0030006 MONDO:0000732 True combined oxidative phosphorylation deficiency 40 combined oxidative phosphorylation deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0030007 MONDO:0000732 True combined oxidative phosphorylation deficiency 41 combined oxidative phosphorylation deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0030008 MONDO:0000732 True combined oxidative phosphorylation deficiency 42 combined oxidative phosphorylation deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0030009 MONDO:0008756 True alopecia-intellectual disability syndrome 4 alopecia - intellectual disability syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0030006 MONDO:0000732 True combined oxidative phosphorylation deficiency 40 combined oxidative phosphorylation deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0030007 MONDO:0000732 True combined oxidative phosphorylation deficiency 41 combined oxidative phosphorylation deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0030008 MONDO:0000732 True combined oxidative phosphorylation deficiency 42 combined oxidative phosphorylation deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0030009 MONDO:0008756 True alopecia-intellectual disability syndrome 4 alopecia - intellectual disability syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED MONDO:0030010 MONDO:0018555 True hypogonadotropic hypogonadism 25 with anosmia hypogonadotropic hypogonadism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0030013 MONDO:0021094 True immunodeficiency 66 immunodeficiency disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0030014 MONDO:0015152 True muscular dystrophy, limb-girdle, autosomal recessive 26 autosomal recessive limb-girdle muscular dystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0030015 MONDO:0000159 True bone marrow failure syndrome 6 bone marrow failure syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0030017 MONDO:0000732 True combined oxidative phosphorylation deficiency 43 combined oxidative phosphorylation deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0030019 MONDO:0011773 True anauxetic dysplasia 3 anauxetic dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0030017 MONDO:0000732 True combined oxidative phosphorylation deficiency 43 combined oxidative phosphorylation deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0030019 MONDO:0011773 True anauxetic dysplasia 3 anauxetic dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED MONDO:0030020 MONDO:0000732 True combined oxidative phosphorylation deficiency 44 combined oxidative phosphorylation deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0030027 MONDO:0003233 True tremor, hereditary essential, 6 essential tremor UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0030031 MONDO:0018838 True lissencephaly 10 lissencephaly spectrum disorders UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0030026 MONDO:0003847 True retinal dystrophy with leukodystrophy hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0030027 MONDO:0003233 True tremor, hereditary essential, 6 essential tremor UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0030031 MONDO:0018838 True lissencephaly 10 lissencephaly spectrum disorders UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED MONDO:0030034 MONDO:0020074 True epilepsy, progressive myoclonic, 11 progressive myoclonus epilepsy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0030043 MONDO:0005501 True congenital disorder of glycosylation, type iit congenital disorder of glycosylation type II UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0030044 MONDO:0009626 True pseudo-TORCH syndrome 3 pseudo-TORCH syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0030054 MONDO:0100062 True developmental and epileptic encephalopathy, 86 developmental and epileptic encephalopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0030049 MONDO:0003847 True 46,xx sex reversal 5 hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0030054 MONDO:0100062 True developmental and epileptic encephalopathy, 86 developmental and epileptic encephalopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0030055 MONDO:0015363 True neuronopathy, distal hereditary motor, autosomal recessive 8 neuronopathy, distal hereditary motor, autosomal recessive UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0030056 MONDO:0100238 True Fanconi renotubular syndrome 5 inherited Fanconi renotubular syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0030058 MONDO:0019587 True hearing loss, autosomal dominant 77 autosomal dominant nonsyndromic hearing loss UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0030059 MONDO:0100062 True developmental and epileptic encephalopathy, 87 developmental and epileptic encephalopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0030058 MONDO:0019587 True hearing loss, autosomal dominant 77 autosomal dominant nonsyndromic hearing loss UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0030059 MONDO:0100062 True developmental and epileptic encephalopathy, 87 developmental and epileptic encephalopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED MONDO:0030061 MONDO:0020341 True periventricular nodular heterotopia 9 periventricular nodular heterotopia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0030062 MONDO:0016342 True arrhythmogenic right ventricular dysplasia, familial, 14 familial isolated arrhythmogenic right ventricular dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0030064 MONDO:0016227 True episodic ataxia, type 9 hereditary episodic ataxia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0030066 MONDO:0018305 True granulomatous disease, chronic, autosomal recessive, 5 chronic granulomatous disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0030067 MONDO:0002457 True Treacher Collins syndrome 4 Treacher-Collins syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0030066 MONDO:0018305 True granulomatous disease, chronic, autosomal recessive, 5 chronic granulomatous disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0030067 MONDO:0002457 True Treacher Collins syndrome 4 Treacher-Collins syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED MONDO:0030069 MONDO:0018037 True hyper-IgE recurrent infection syndrome 5, autosomal recessive hyper-IgE syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0030070 MONDO:0018677 True heterotaxy, visceral, 9, autosomal, with male infertility visceral heterotaxy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0030072 MONDO:0100062 True developmental and epileptic encephalopathy, 88 developmental and epileptic encephalopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0030071 MONDO:0003847 True retinitis pigmentosa 89 hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0030072 MONDO:0100062 True developmental and epileptic encephalopathy, 88 developmental and epileptic encephalopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0030074 MONDO:0003847 True spondylometaphyseal dysplasia with corneal dystrophy hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0030077 MONDO:0020831 True vertebral, cardiac, renal, and limb defects syndrome 3 congenital vertebral-cardiac-renal anomalies syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0030087 MONDO:0100164 True diabetes mellitus, permanent neonatal 2 permanent neonatal diabetes mellitus UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0030088 MONDO:0100164 True diabetes mellitus, permanent neonatal 3 permanent neonatal diabetes mellitus UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0030089 MONDO:0100164 True diabetes mellitus, permanent neonatal 4 permanent neonatal diabetes mellitus UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0030105 MONDO:0018116 True galactosemia 4 galactosemia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0030105 MONDO:0018116 True galactosemia 4 galactosemia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0030116 MONDO:0008394 True silver-russell syndrome 2 Silver-Russell syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0030118 MONDO:0008394 True silver-russell syndrome 4 Silver-Russell syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0030134 MONDO:0025193 True oculopharyngodistal myopathy 2 oculopharyngodistal myopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0030258 MONDO:0020135 True pontocerebellar hypoplasia, type 14 pontocerebellar hypoplasia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0030259 MONDO:0020135 True pontocerebellar hypoplasia, type 15 pontocerebellar hypoplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0030260 MONDO:0020135 True pontocerebellar hypoplasia, type 1E pontocerebellar hypoplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0030261 MONDO:0020135 True pontocerebellar hypoplasia, type 1F pontocerebellar hypoplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0030263 MONDO:0019046 True leukodystrophy, hypomyelinating, 21 leukodystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0030134 MONDO:0025193 True oculopharyngodistal myopathy 2 oculopharyngodistal myopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0030258 MONDO:0020135 True pontocerebellar hypoplasia, type 14 pontocerebellar hypoplasia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0030259 MONDO:0020135 True pontocerebellar hypoplasia, type 15 pontocerebellar hypoplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0030260 MONDO:0020135 True pontocerebellar hypoplasia, type 1E pontocerebellar hypoplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0030261 MONDO:0020135 True pontocerebellar hypoplasia, type 1F pontocerebellar hypoplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0030263 MONDO:0019046 True leukodystrophy, hypomyelinating, 21 leukodystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED MONDO:0030266 MONDO:0021094 True immunodeficiency 80 with or without congenital cardiomyopathy immunodeficiency disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0030268 MONDO:0100062 True developmental and epileptic encephalopathy 6B developmental and epileptic encephalopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0030268 MONDO:0100062 True developmental and epileptic encephalopathy 6B developmental and epileptic encephalopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED MONDO:0030270 MONDO:0019313 True lymphatic malformation 9 lymphatic malformation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0030281 MONDO:0015168 True arthrogryposis multiplex congenita 6 arthrogryposis multiplex congenita UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0030281 MONDO:0015168 True arthrogryposis multiplex congenita 6 arthrogryposis multiplex congenita UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED MONDO:0030293 MONDO:0019623 True angioedema, hereditary, 5 hereditary angioedema UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0030294 MONDO:0025986 True megacystis-microcolon-intestinal hypoperistalsis syndrome 3 megacystis-microcolon-intestinal hypoperistalsis syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0030296 MONDO:0025986 True megacystis-microcolon-intestinal hypoperistalsis syndrome 4 megacystis-microcolon-intestinal hypoperistalsis syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0030298 MONDO:0019623 True angioedema, hereditary, 8 hereditary angioedema UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0030300 MONDO:0016333 True cardiomyopathy, dilated, 2D familial dilated cardiomyopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0030302 MONDO:0021094 True immunodeficiency 81 immunodeficiency disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0030307 MONDO:0004983 True spermatogenic failure 55 spermatogenic failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0030307 MONDO:0004983 True spermatogenic failure 55 spermatogenic failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED MONDO:0030308 MONDO:0021094 True immunodeficiency 82 with systemic inflammation immunodeficiency disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0030309 MONDO:0100223 True Leber hereditary optic neuropathy, autosomal recessive mitochondrial complex I deficiency, nuclear type UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0030311 MONDO:0000732 True combined oxidative phosphorylation deficiency 52 combined oxidative phosphorylation deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0030312 MONDO:0015244 True spinocerebellar ataxia, autosomal recessive 29 autosomal recessive cerebellar ataxia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0030312 MONDO:0015244 True spinocerebellar ataxia, autosomal recessive 29 autosomal recessive cerebellar ataxia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED MONDO:0030314 MONDO:0005265 True inflammatory bowel disease (infantile ulcerative colitis) 31, autosomal recessive inflammatory bowel disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0030316 MONDO:0019313 True lymphatic malformation 11 lymphatic malformation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0030317 MONDO:0024573 True cardiomyopathy, familial hypertrophic, 28 familial hypertrophic cardiomyopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0030318 MONDO:0015244 True spinocerebellar ataxia, autosomal recessive 30 autosomal recessive cerebellar ataxia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0030323 MONDO:0015244 True spinocerebellar ataxia, autosomal recessive 31 autosomal recessive cerebellar ataxia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0030318 MONDO:0015244 True spinocerebellar ataxia, autosomal recessive 30 autosomal recessive cerebellar ataxia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0030323 MONDO:0015244 True spinocerebellar ataxia, autosomal recessive 31 autosomal recessive cerebellar ataxia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED MONDO:0030326 MONDO:0018158 True mitochondrial dna depletion syndrome 16B (neuroophthalmic type) mitochondrial DNA depletion syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0030329 MONDO:0025986 True megacystis-microcolon-intestinal hypoperistalsis syndrome 5 megacystis-microcolon-intestinal hypoperistalsis syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0030330 MONDO:0016340 True cardiomyopathy, familial restrictive, 6 familial restrictive cardiomyopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING @@ -9591,32 +17041,32 @@ MONDO:0030397 MONDO:0024193 True portal hypertension, noncirrhotic, 2 portal hyp MONDO:0030399 MONDO:0023961 True visceral neuropathy, familial, 2, autosomal recessive visceral neuropathy, familial UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0030423 MONDO:0005501 True congenital disorder of glycosylation, type 2v congenital disorder of glycosylation type II UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0030428 MONDO:0021094 True immunodeficiency 85 and autoimmunity immunodeficiency disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0030430 MONDO:0004983 True spermatogenic failure 56 spermatogenic failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0030430 MONDO:0004983 True spermatogenic failure 56 spermatogenic failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED MONDO:0030433 MONDO:0015626 True Charcot-Marie-Tooth disease, axonal, type 2FF Charcot-Marie-Tooth disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0030436 MONDO:0020099 True anemia, sideroblastic, 5 inherited sideroblastic anemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0030437 MONDO:0005501 True congenital disorder of glycosylation, type IIw congenital disorder of glycosylation type II UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0030438 MONDO:0020135 True pontocerebellar hypoplasia, type 16 pontocerebellar hypoplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0030439 MONDO:0004983 True spermatogenic failure 57 spermatogenic failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0030438 MONDO:0020135 True pontocerebellar hypoplasia, type 16 pontocerebellar hypoplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0030439 MONDO:0004983 True spermatogenic failure 57 spermatogenic failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED MONDO:0030440 MONDO:0015993 True cone-rod dystrophy 22 cone-rod dystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0030448 MONDO:0021094 True immunodeficiency 86 immunodeficiency disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0030449 MONDO:0019588 True hearing loss, autosomal recessive 118, with cochlear aplasia hearing loss, autosomal recessive UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0030453 MONDO:0100062 True developmental and epileptic encephalopathy 97 developmental and epileptic encephalopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0030453 MONDO:0100062 True developmental and epileptic encephalopathy 97 developmental and epileptic encephalopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED MONDO:0030454 MONDO:0018772 True Joubert syndrome 39 Joubert syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0030455 MONDO:0044807 True dystonia 31 inherited dystonia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0030456 MONDO:0015152 True muscular dystrophy, limb-girdle, autosomal recessive 27 autosomal recessive limb-girdle muscular dystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0030457 MONDO:0021094 True immunodeficiency 87 and autoimmunity immunodeficiency disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0030458 MONDO:0015626 True Charcot-Marie-Tooth disease, axonal, Type 2HH Charcot-Marie-Tooth disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0030462 MONDO:0018772 True Joubert syndrome 40 Joubert syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0030463 MONDO:0004983 True spermatogenic failure 58 spermatogenic failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0030463 MONDO:0004983 True spermatogenic failure 58 spermatogenic failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED MONDO:0030465 MONDO:0005129 True cataract 49 cataract UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0030471 MONDO:0009627 True Galloway-Mowat syndrome 9 Galloway-Mowat syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0030472 MONDO:0100062 True developmental and epileptic encephalopathy 98 developmental and epileptic encephalopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0030473 MONDO:0100062 True developmental and epileptic encephalopathy 99 developmental and epileptic encephalopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0030472 MONDO:0100062 True developmental and epileptic encephalopathy 98 developmental and epileptic encephalopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0030473 MONDO:0100062 True developmental and epileptic encephalopathy 99 developmental and epileptic encephalopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED MONDO:0030474 MONDO:0018677 True heterotaxy, visceral, 10, autosomal, with male infertility visceral heterotaxy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0030475 MONDO:0018677 True heterotaxy, visceral, 11, autosomal, with male infertility visceral heterotaxy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0030476 MONDO:0009627 True Galloway-Mowat syndrome 10 Galloway-Mowat syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0030480 MONDO:0019588 True hearing loss, autosomal recessive 119 hearing loss, autosomal recessive UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0030482 MONDO:0019064 True spastic paraplegia 84, autosomal recessive hereditary spastic paraplegia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0030482 MONDO:0019064 True spastic paraplegia 84, autosomal recessive hereditary spastic paraplegia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED MONDO:0030483 MONDO:0021094 True immunodeficiency 88 immunodeficiency disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0030484 MONDO:0021094 True immunodeficiency 89 and autoimmunity immunodeficiency disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0030486 MONDO:0044807 True dystonia 32 inherited dystonia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING @@ -9624,31 +17074,31 @@ MONDO:0030487 MONDO:0016763 True spondylometaphyseal dysplasia, pagnamenta type MONDO:0030489 MONDO:0017610 True epidermolysis bullosa simplex 2A, generalized severe epidermolysis bullosa simplex UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0030490 MONDO:0014769 True oocyte maturation defect 11 inherited oocyte maturation defect UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0030491 MONDO:0021094 True immunodeficiency 91 and hyperinflammation immunodeficiency disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0030492 MONDO:0004983 True spermatogenic failure 59 spermatogenic failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0030493 MONDO:0004983 True spermatogenic failure 60 spermatogenic failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0030492 MONDO:0004983 True spermatogenic failure 59 spermatogenic failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0030493 MONDO:0004983 True spermatogenic failure 60 spermatogenic failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED MONDO:0030498 MONDO:0021094 True immunodeficiency 92 immunodeficiency disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0030500 MONDO:0018954 True Loeys-Dietz syndrome 6 Loeys-Dietz syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0030503 MONDO:0015762 True cholestasis, progressive familial intrahepatic, 7, with or without hearing loss progressive familial intrahepatic cholestasis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0030505 MONDO:0015762 True cholestasis, progressive familial intrahepatic, 8 progressive familial intrahepatic cholestasis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0030506 MONDO:0009299 True ovarian dysgenesis 9 46 XX gonadal dysgenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0030507 MONDO:0004983 True spermatogenic failure 61 spermatogenic failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0030508 MONDO:0004983 True spermatogenic failure 62 spermatogenic failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0030512 MONDO:0019064 True spastic paraplegia 85, autosomal recessive hereditary spastic paraplegia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0030507 MONDO:0004983 True spermatogenic failure 61 spermatogenic failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0030508 MONDO:0004983 True spermatogenic failure 62 spermatogenic failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0030512 MONDO:0019064 True spastic paraplegia 85, autosomal recessive hereditary spastic paraplegia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED MONDO:0030513 MONDO:0044807 True dystonia 33 inherited dystonia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0030514 MONDO:0019046 True leukodystrophy, hypomyelinating, 23, with ataxia, deafness, liver dysfunction, and dilated cardiomyopathy leukodystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0030515 MONDO:0004983 True spermatogenic failure 63 spermatogenic failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0030514 MONDO:0019046 True leukodystrophy, hypomyelinating, 23, with ataxia, deafness, liver dysfunction, and dilated cardiomyopathy leukodystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0030515 MONDO:0004983 True spermatogenic failure 63 spermatogenic failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED MONDO:0030517 MONDO:0018053 True trichothiodystrophy 8, nonphotosensitive trichothiodystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0030518 MONDO:0018053 True trichothiodystrophy 9, nonphotosensitive trichothiodystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0030519 MONDO:0015977 True agammaglobulinemia 9, autosomal recessive agammaglobulinemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0030522 MONDO:0004983 True spermatogenic failure 64 spermatogenic failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0030519 MONDO:0015977 True agammaglobulinemia 9, autosomal recessive agammaglobulinemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0030522 MONDO:0004983 True spermatogenic failure 64 spermatogenic failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED MONDO:0030523 MONDO:0014769 True oocyte maturation defect 12 inherited oocyte maturation defect UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0030524 MONDO:0019249 True mucopolysaccharidosis, type 10 mucopolysaccharidosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0030525 MONDO:0017610 True epidermolysis bullosa simplex 2B, generalized intermediate epidermolysis bullosa simplex UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0030527 MONDO:0017610 True epidermolysis bullosa simplex 2C, localized epidermolysis bullosa simplex UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0030528 MONDO:0021094 True immunodeficiency 93 and hypertrophic cardiomyopathy immunodeficiency disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0030529 MONDO:0015977 True agammaglobulinemia 10, autosomal dominant agammaglobulinemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0030531 MONDO:0004983 True spermatogenic failure 65 spermatogenic failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0030533 MONDO:0019502 True intellectual developmental disorder, autosomal recessive 73 autosomal recessive non-syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0030529 MONDO:0015977 True agammaglobulinemia 10, autosomal dominant agammaglobulinemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0030531 MONDO:0004983 True spermatogenic failure 65 spermatogenic failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0030533 MONDO:0019502 True intellectual developmental disorder, autosomal recessive 73 autosomal recessive non-syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED MONDO:0030534 MONDO:0018555 True hypogonadotropic hypogonadism 26 with or without anosmia hypogonadotropic hypogonadism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0030535 MONDO:0017610 True epidermolysis bullosa simplex 2d, generalized, intermediate or severe, autosomal recessive epidermolysis bullosa simplex UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0030537 MONDO:0800031 True central hypoventilation syndrome, congenital, 2, and autonomic dysfunction central hypoventilation syndrome, congenital UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING @@ -9656,7 +17106,8 @@ MONDO:0030538 MONDO:0044807 True dystonia 34, myoclonic inherited dystonia UNSUP MONDO:0030539 MONDO:0800031 True central hypoventilation syndrome, congenital, 3 central hypoventilation syndrome, congenital UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0030543 MONDO:0000732 True combined oxidative phosphorylation deficiency 54 combined oxidative phosphorylation deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0030549 MONDO:0019587 True hearing loss, autosomal dominant 81 autosomal dominant nonsyndromic hearing loss UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0030553 MONDO:0019696 True acromesomelic dysplasia 4 acromesomelic dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0030553 MONDO:0019696 True acromesomelic dysplasia 4 acromesomelic dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0030602 MONDO:0004652 True Klebsiella pneumonia bacterial pneumonia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0030604 MONDO:0004356 True cystic partially differentiated nephroblastoma childhood multilocular cystic kidney neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0030604 MONDO:0024676 True cystic partially differentiated nephroblastoma childhood kidney Wilms tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0030606 MONDO:0031200 True Bryant-Li-Bhoj neurodevelopmental syndrome 1 Bryant-Li-Bhoj neurodevelopmental syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING @@ -9666,27 +17117,26 @@ MONDO:0030619 MONDO:0019200 True retinitis pigmentosa 92 retinitis pigmentosa UN MONDO:0030625 MONDO:0031115 True dyskinesia with orofacial involvement, autosomal recessive dyskinesia with orofacial involvement UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0030634 MONDO:0030796 True leukoencephalopathy, hereditary diffuse, with spheroids 2 leukoencephalopathy, hereditary diffuse, with spheroids UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0030669 MONDO:0030831 True gastrointestinal defects and immunodeficiency syndrome 2 gastrointestinal defect and immunodeficiency syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0030673 MONDO:0019064 True spastic paraplegia 86, autosomal recessive hereditary spastic paraplegia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0030674 MONDO:0030639 True Teebi hypertelorism syndrome 2 Teebi hypertelorism syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0030673 MONDO:0019064 True spastic paraplegia 86, autosomal recessive hereditary spastic paraplegia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0030674 MONDO:0030639 True Teebi hypertelorism syndrome 2 Teebi hypertelorism syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED MONDO:0030676 MONDO:0013150 True parkinsonism-dystonia 3, childhood-onset parkinsonism-dystonia, infantile UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0030677 MONDO:0015626 True Charcot-Marie-Tooth disease, demyelinating, IIA 1I Charcot-Marie-Tooth disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0030679 MONDO:0018997 True Noonan syndrome 14 Noonan syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0030680 MONDO:0016333 True cardiomyopathy, dilated, 2F familial dilated cardiomyopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0030681 MONDO:0018037 True immunodeficiency 94 with autoinflammation and dysmorphic facies hyper-IgE syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0030684 MONDO:0018555 True hypogonadotropic hypogonadism 27 without anosmia hypogonadotropic hypogonadism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0030689 MONDO:0015626 True Charcot-Marie-Tooth disease, demyelinating, IIA 1H Charcot-Marie-Tooth disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0030690 MONDO:0000148 True pulmonary fibrosis and/or bone marrow failure, telomere-related, 6 pulmonary fibrosis and/or bone marrow failure, telomere-related UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0030692 MONDO:0021094 True immunodeficiency 95 immunodeficiency disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0030693 MONDO:0021094 True immunodeficiency 96 immunodeficiency disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0030695 MONDO:0100062 True developmental and epileptic encephalopathy 100 developmental and epileptic encephalopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0030695 MONDO:0100062 True developmental and epileptic encephalopathy 100 developmental and epileptic encephalopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED MONDO:0030696 MONDO:0018158 True mitochondrial DNA depletion syndrome 20 (mngie type) mitochondrial DNA depletion syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0030697 MONDO:0001384 True myopia 28, autosomal recessive myopia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0030705 MONDO:0002154 True Trichomonas prostatitis trichomoniasis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0030705 MONDO:0005280 True Trichomonas prostatitis prostatitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0030707 MONDO:0002154 True Trichomonas balanoposthitis trichomoniasis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0030708 MONDO:0002154 True Trichomonas cervicitis trichomoniasis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0030700 MONDO:0007179 True autoimmune glomerulonephritis autoimmune disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0030701 MONDO:0000603 True autoimmune cardiomyopathy autoimmune disorder of cardiovascular system UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0030702 MONDO:0000603 True autoimmune atherosclerosis autoimmune disorder of cardiovascular system UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0030703 MONDO:0000603 True autoimmune vasculitis autoimmune disorder of cardiovascular system UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0030711 MONDO:0019403 True Anemia, congenital dyserythropoietic, type IIIb, autosomal recessive congenital dyserythropoietic anemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0030712 MONDO:0025193 True oculopharyngodistal myopathy 4 oculopharyngodistal myopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0030712 MONDO:0025193 True oculopharyngodistal myopathy 4 oculopharyngodistal myopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED MONDO:0030714 MONDO:0019019 True osteogenesis imperfecta, IIA 22 osteogenesis imperfecta UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0030716 MONDO:0004983 True spermatogenic failure 66 spermatogenic failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0030717 MONDO:0021094 True immunodeficiency 97 with autoinflammation immunodeficiency disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING @@ -9696,7 +17146,7 @@ MONDO:0030721 MONDO:0004983 True spermatogenic failure 68 spermatogenic failure MONDO:0030723 MONDO:0019587 True hearing loss, autosomal dominant 83 autosomal dominant nonsyndromic hearing loss UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0030724 MONDO:0019587 True hearing loss, autosomal dominant 84 autosomal dominant nonsyndromic hearing loss UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0030726 MONDO:0018542 True neutropenia, severe congenital, 9, autosomal dominant severe congenital neutropenia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0030727 MONDO:0100062 True developmental and epileptic encephalopathy 101 developmental and epileptic encephalopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0030727 MONDO:0100062 True developmental and epileptic encephalopathy 101 developmental and epileptic encephalopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED MONDO:0030729 MONDO:0031400 True Tessadori-van Haaften neurodevelopmental syndrome 1 Tessadori-Van-Haaften neurodevelopmental syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0030730 MONDO:0031400 True Tessadori-van Haaften neurodevelopmental syndrome 2 Tessadori-Van-Haaften neurodevelopmental syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0030731 MONDO:0019625 True aortic aneurysm, familial thoracic 12 familial thoracic aortic aneurysm and aortic dissection UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING @@ -9711,13 +17161,14 @@ MONDO:0030750 MONDO:0017612 True epidermolysis bullosa, junctional 4, intermedia MONDO:0030756 MONDO:0031280 True Stuve-Wiedemann syndrome 2 Stuve-Wiedemann syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0030768 MONDO:0017612 True epidermolysis bullosa, junctional 5A, intermediate junctional epidermolysis bullosa UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0030770 MONDO:0031376 True congenital disorder of deglycosylation 2 congenital disorder of deglycosylation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0030781 MONDO:0031213 True restrictive dermopathy 2 restrictive dermopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0030785 MONDO:0019502 True intellectual developmental disorder, autosomal recessive 75, with neuropsychiatric features and variant lissencephaly autosomal recessive non-syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0030781 MONDO:0031213 True restrictive dermopathy 2 restrictive dermopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0030785 MONDO:0019502 True intellectual developmental disorder, autosomal recessive 75, with neuropsychiatric features and variant lissencephaly autosomal recessive non-syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED MONDO:0030787 MONDO:0004983 True spermatogenic failure 71 spermatogenic failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0030797 MONDO:0019200 True retinitis pigmentosa 93 retinitis pigmentosa UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0030798 MONDO:0021094 True immunodeficiency 99 with hypogammaglobulinemia and autoimmune cytopenias immunodeficiency disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0030800 MONDO:0015762 True cholestasis, progressive familial intrahepatic, 9 progressive familial intrahepatic cholestasis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0030801 MONDO:0044645 True monosomy 7 myelodysplasia and leukemia syndrome 2 familial monosomy 7 syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0030805 MONDO:0020380 True spinocerebellar ataxia 49 autosomal dominant cerebellar ataxia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0030809 MONDO:0004983 True spermatogenic failure 72 spermatogenic failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0030810 MONDO:0015762 True cholestasis, progressive familial intrahepatic, 10 progressive familial intrahepatic cholestasis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0030813 MONDO:0021094 True immunodeficiency 101 (varicella zoster virus-specific) immunodeficiency disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING @@ -9730,348 +17181,449 @@ MONDO:0030839 MONDO:0031432 True thyroid hormone metabolism, abnormal, 2 thyroid MONDO:0030840 MONDO:0031219 True mismatch repair cancer syndrome 2 mismatch repair cancer syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0030841 MONDO:0031219 True mismatch repair cancer syndrome 3 mismatch repair cancer syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0030843 MONDO:0031219 True mismatch repair cancer syndrome 4 mismatch repair cancer syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0030844 MONDO:0004983 True spermatogenic failure 47 spermatogenic failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0030846 MONDO:0004983 True spermatogenic failure 48 spermatogenic failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0030847 MONDO:0019942 True arthrogryposis, distal, type 1C distal arthrogryposis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0030844 MONDO:0004983 True spermatogenic failure 47 spermatogenic failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0030846 MONDO:0004983 True spermatogenic failure 48 spermatogenic failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0030847 MONDO:0019942 True arthrogryposis, distal, type 1C distal arthrogryposis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED MONDO:0030854 MONDO:0016470 True combined osteogenesis imperfecta and Ehlers-Danlos syndrome 1 Ehlers-Danlos/osteogenesis imperfecta syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0030855 MONDO:0016470 True combined osteogenesis imperfecta and Ehlers-Danlos syndrome 2 Ehlers-Danlos/osteogenesis imperfecta syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0030856 MONDO:0100062 True developmental and epileptic encephalopathy 89 developmental and epileptic encephalopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0030856 MONDO:0100062 True developmental and epileptic encephalopathy 89 developmental and epileptic encephalopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED MONDO:0030858 MONDO:0021094 True immunodeficiency 75 immunodeficiency disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0030861 MONDO:0019019 True osteogenesis imperfecta, type 21 osteogenesis imperfecta UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0030861 MONDO:0019019 True osteogenesis imperfecta, type 21 osteogenesis imperfecta UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED MONDO:0030864 MONDO:0019078 True Ritscher-Schinzel syndrome 3 Ritscher-Schinzel syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0030867 MONDO:0100241 True thrombocytopenia 7 inherited thrombocytopenia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0030868 MONDO:0004983 True spermatogenic failure 49 spermatogenic failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0030869 MONDO:0004983 True spermatogenic failures 50 spermatogenic failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0030868 MONDO:0004983 True spermatogenic failure 49 spermatogenic failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0030869 MONDO:0004983 True spermatogenic failures 50 spermatogenic failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED MONDO:0030870 MONDO:0019852 True premature ovarian failure 17 inherited primary ovarian failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0030871 MONDO:0003847 True vertebral hypersegmentation and orofacial anomalies hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0030872 MONDO:0005144 True frontotemporal dementia and/or amyotrophic lateral sclerosis 8 familial amyotrophic lateral sclerosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0030875 MONDO:0005144 True frontotemporal dementia and/or amyotrophic lateral sclerosis 5 familial amyotrophic lateral sclerosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0030876 MONDO:0031386 True cardioacrofacial dysplasia 1 cardioacrofacial dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0030877 MONDO:0031386 True cardioacrofacial dysplasia 2 cardioacrofacial dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0030881 MONDO:0100062 True developmental and epileptic encephalopathy 102 developmental and epileptic encephalopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0030881 MONDO:0100062 True developmental and epileptic encephalopathy 102 developmental and epileptic encephalopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED MONDO:0030883 MONDO:0007275 True carpal tunnel syndrome 2 carpal tunnel syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0030885 MONDO:0005144 True amyotrophic lateral sclerosis 26 with or without frontotemporal dementia familial amyotrophic lateral sclerosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0030886 MONDO:0016296 True holoprosencephaly 14 holoprosencephaly UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0030887 MONDO:0016333 True cardiomyopathy, dilated, 2G familial dilated cardiomyopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0030890 MONDO:0020135 True pontocerebellar hypoplasia, IIA 17 pontocerebellar hypoplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0030891 MONDO:0100172 True intellectual developmental disorder, autosomal dominant 66 intellectual disability, autosomal dominant UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0030894 MONDO:0000159 True AMED syndrome, digenic bone marrow failure syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0030895 MONDO:0002350 True nephrotic syndrome, type 22 familial nephrotic syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0030895 MONDO:0002350 True nephrotic syndrome, type 22 familial nephrotic syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED MONDO:0030898 MONDO:0021094 True immunodeficiency 76 immunodeficiency disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0030899 MONDO:0018910 True oculocutaneous albinism type 8 oculocutaneous albinism UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0030899 MONDO:0018910 True oculocutaneous albinism type 8 oculocutaneous albinism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0030902 MONDO:0100223 True mitochondrial complex 1 deficiency, nuclear type 36 mitochondrial complex I deficiency, nuclear type UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0030903 MONDO:0019312 True Hermansky-Pudlak syndrome 11 Hermansky-Pudlak syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0030905 MONDO:0019588 True hearing loss, autosomal recessive 117 hearing loss, autosomal recessive UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0030907 MONDO:0019181 True intellectual disability, X-linked 106 non-syndromic X-linked intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0030908 MONDO:0020119 True intellectual disability, X-linked, syndromic, 35 X-linked syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0030909 MONDO:0020119 True intellectual disability, X-linked, syndromic, Houge type X-linked syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0030906 MONDO:0002154 True Trichomonas tenax infectious disease trichomoniasis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0030907 MONDO:0019181 True intellectual disability, X-linked 106 non-syndromic X-linked intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0030908 MONDO:0020119 True intellectual disability, X-linked, syndromic, 35 X-linked syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0030909 MONDO:0020119 True intellectual disability, X-linked, syndromic, Houge type X-linked syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0030910 MONDO:0015802 True intellectual disability, autosomal dominant 45 autosomal dominant non-syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0030911 MONDO:0015802 True intellectual disability, autosomal dominant 46 autosomal dominant non-syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0030912 MONDO:0015159 True intellectual disability, autosomal dominant 47 multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0030912 MONDO:0015802 True intellectual disability, autosomal dominant 47 autosomal dominant non-syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0030913 MONDO:0015159 True intellectual disability, autosomal dominant 48 multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0030913 MONDO:0100172 True intellectual disability, autosomal dominant 48 intellectual disability, autosomal dominant UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0030915 MONDO:0019502 True intellectual disability, autosomal recessive 61 autosomal recessive non-syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0030914 MONDO:0015802 True Clark-Baraitser syndrome autosomal dominant non-syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0030915 MONDO:0019502 True intellectual disability, autosomal recessive 61 autosomal recessive non-syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0030916 MONDO:0015802 True intellectual disability, autosomal dominant 50 autosomal dominant non-syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0030917 MONDO:0015802 True intellectual disability, autosomal dominant 51 autosomal dominant non-syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0030918 MONDO:0015802 True intellectual disability, autosomal dominant 52 autosomal dominant non-syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0030919 MONDO:0015802 True intellectual disability, autosomal dominant 53 autosomal dominant non-syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0030920 MONDO:0015802 True intellectual disability, autosomal dominant 54 autosomal dominant non-syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0030921 MONDO:0015802 True intellectual disability, autosomal dominant 55, with seizures autosomal dominant non-syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0030922 MONDO:0015802 True intellectual disability, autosomal dominant 56 autosomal dominant non-syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0030924 MONDO:0009726 True proteasome-associated autoinflammatory syndrome 5 proteosome-associated autoinflammatory syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0030925 MONDO:0014769 True oocyte maturation defect 10 inherited oocyte maturation defect UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0030926 MONDO:0004983 True spermatogenic failure 51 spermatogenic failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0030927 MONDO:0018943 True myofibrillar myopathy 11 myofibrillar myopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0030926 MONDO:0004983 True spermatogenic failure 51 spermatogenic failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0030927 MONDO:0018943 True myofibrillar myopathy 11 myofibrillar myopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED MONDO:0030931 MONDO:0009726 True proteasome-associated autoinflammatory syndrome 4 proteosome-associated autoinflammatory syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0030933 MONDO:0018772 True Joubert syndrome 37 Joubert syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0030934 MONDO:0100172 True intellectual developmental disorder, autosomal dominant 64 intellectual disability, autosomal dominant UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0030935 MONDO:0031230 True mitochondrial complex 2 deficiency, nuclear type 2 mitochondrial complex II deficiency, nuclear type UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0030936 MONDO:0020074 True epilepsy, progressive myoclonic, 12 progressive myoclonus epilepsy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0030937 MONDO:0031230 True mitochondrial complex 2 deficiency, nuclear type 3 mitochondrial complex II deficiency, nuclear type UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0030938 MONDO:0004983 True spermatogenic failure 52 spermatogenic failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0030938 MONDO:0004983 True spermatogenic failure 52 spermatogenic failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED MONDO:0030939 MONDO:0019852 True premature ovarian failure 18 inherited primary ovarian failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0030941 MONDO:0017851 True erythrokeratodermia variabilis et progressiva 7 erythrokeratodermia variabilis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0030953 MONDO:0031439 True short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies 2 short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0030957 MONDO:0100062 True developmental and epileptic encephalopathy 103 developmental and epileptic encephalopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0030958 MONDO:0044807 True dystonia 35, childhood-onset inherited dystonia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0030961 MONDO:0031421 True Olmsted syndrome 2 Olmsted syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0030962 MONDO:0002350 True nephrotic syndrome, type 23 familial nephrotic syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0030962 MONDO:0002350 True nephrotic syndrome, type 23 familial nephrotic syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0030964 MONDO:0100172 True intellectual developmental disorder, autosomal dominant 67 intellectual disability, autosomal dominant UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0030968 MONDO:0019502 True intellectual developmental disorder, autosomal recessive 76 autosomal recessive non-syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0030969 MONDO:0100172 True intellectual developmental disorder, autosomal dominant 68 intellectual disability, autosomal dominant UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0030970 MONDO:0021094 True immunodeficiency 106, susceptibility to viral infections immunodeficiency disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0030971 MONDO:0021094 True immunodeficiency 78 with autoimmunity and developmental delay immunodeficiency disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0030972 MONDO:0004983 True spermatogenic failure 74 spermatogenic failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0030973 MONDO:0021094 True immunodeficiency 77 immunodeficiency disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0030974 MONDO:0031230 True mitochondrial complex 2 deficiency, nuclear type 4 mitochondrial complex II deficiency, nuclear type UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0030975 MONDO:0019852 True premature ovarian failure 20 inherited primary ovarian failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0030977 MONDO:0015363 True neuronopathy, distal hereditary motor, autosomal recessive 7 neuronopathy, distal hereditary motor, autosomal recessive UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0030983 MONDO:0018094 True Waardenburg syndrome, IIa 2F Waardenburg syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0030984 MONDO:0004983 True spermatogenic failure 75 spermatogenic failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0030985 MONDO:0019852 True premature ovarian failure 19 inherited primary ovarian failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0030989 MONDO:0004983 True spermatogenic failure 53 spermatogenic failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0030989 MONDO:0004983 True spermatogenic failure 53 spermatogenic failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0030993 MONDO:0031400 True Tessadori-Van Haaften neurodevelopmental syndrome 3 Tessadori-Van-Haaften neurodevelopmental syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0030996 MONDO:0000009 True bleeding disorder, platelet-type, 24 inherited bleeding disorder, platelet-type UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0030997 MONDO:0100223 True mitochondrial complex 1 deficiency, nuclear type 37 mitochondrial complex I deficiency, nuclear type UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0030998 MONDO:0019587 True hearing loss, autosomal dominant 80 autosomal dominant nonsyndromic hearing loss UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0031000 MONDO:0031400 True Tessadori-Van Haaften neurodevelopmental syndrome 4 Tessadori-Van-Haaften neurodevelopmental syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0031003 MONDO:0100327 True hypercholanemia, familial, 2 hypercholanemia, familial UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0031009 MONDO:0100326 True Glanzmann thrombasthenia 2 Glanzmann thrombasthenia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0031010 MONDO:0031169 True odontochondrodysplasia 2 with hearing loss and diabetes odontochondrodysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0031014 MONDO:0004966 True autoimmune gastritis gastritis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0031012 MONDO:0000587 True autoimmune uveitis autoimmune disease of ear, nose and throat UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0031013 MONDO:0000590 True autoimmune optic neuritis autoimmune disorder of peripheral nervous system UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0031014 MONDO:0000588 True autoimmune gastritis autoimmune disorder of gastrointestinal tract UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0031019 MONDO:0019064 True spastic paraplegia 87, autosomal recessive hereditary spastic paraplegia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0031021 MONDO:0100062 True developmental and epileptic encephalopathy 104 developmental and epileptic encephalopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0031028 MONDO:0100062 True developmental and epileptic encephalopathy 105 with hypopituitarism developmental and epileptic encephalopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0031030 MONDO:0021094 True immunodeficiency 107, susceptibility to invasive staphylococcus aureus infection immunodeficiency disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0031031 MONDO:0019502 True intellectual developmental disorder, autosomal recessive 77 autosomal recessive non-syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0031040 MONDO:0015762 True cholestasis, progressive familial intrahepatic, 12 progressive familial intrahepatic cholestasis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0031043 MONDO:0019313 True lymphatic malformation 12 lymphatic malformation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0031044 MONDO:0015609 True advance sleep phase syndrome, familial, 4 advanced sleep phase syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0031045 MONDO:0019942 True arthrogryposis, distal, IIa 11 distal arthrogryposis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0031047 MONDO:0019354 True stickler syndrome, IIa 6 Stickler syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0031052 MONDO:0100062 True developmental and epileptic encephalopathy 106 developmental and epileptic encephalopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0031054 MONDO:0016575 True ciliary dyskinesia, primary, 48, without situs inversus primary ciliary dyskinesia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0031055 MONDO:0100062 True developmental and epileptic encephalopathy 107 developmental and epileptic encephalopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0031057 MONDO:0015780 True dyskeratosis congenita, digenic dyskeratosis congenita UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0031060 MONDO:0016660 True microcephaly 29, primary, autosomal recessive autosomal recessive primary microcephaly UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0031061 MONDO:0002350 True nephrotic syndrome, IIa 26 familial nephrotic syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0031062 MONDO:0020642 True polycystic kidney disease 7 polycystic kidney disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0031068 MONDO:0015626 True Charcot-Marie-Tooth disease, axonal, IIa 2II Charcot-Marie-Tooth disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0031071 MONDO:0015253 True Diamond-Blackfan anemia 21 Diamond-Blackfan anemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0031077 MONDO:0004983 True spermatogenic failure 76 spermatogenic failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0031083 MONDO:0004983 True spermatogenic failure 77 spermatogenic failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0031084 MONDO:0019507 True amelogenesis imperfecta, IIa 1K amelogenesis imperfecta UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0031329 MONDO:0002254 True craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0031332 MONDO:0100326 True Glanzmann thrombasthenia 1 Glanzmann thrombasthenia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0031421 MONDO:0019272 True Olmsted syndrome hereditary palmoplantar keratoderma UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0031446 MONDO:0100327 True hypercholanemia, familial 1 hypercholanemia, familial UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0031481 MONDO:0100328 True microcephaly, epilepsy, and diabetes syndrome 1 microcephaly, epilepsy, and diabetes syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0032526 MONDO:0020380 True spinocerebellar ataxia 48 autosomal dominant cerebellar ataxia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0032526 MONDO:0020380 True spinocerebellar ataxia 48 autosomal dominant cerebellar ataxia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED MONDO:0032564 MONDO:0016256 True hennekam lymphangiectasia-lymphedema syndrome 3 Hennekam syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0032567 MONDO:0000050 True isolated growth hormone deficiency, type 4 isolated congenital growth hormone deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0032570 MONDO:0018772 True Joubert syndrome 35 Joubert syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0032573 MONDO:0000159 True bone marrow failure syndrome 5 bone marrow failure syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0032575 MONDO:0000824 True diarrhea 9 congenital diarrhea UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0032577 MONDO:0019200 True retinitis pigmentosa 83 retinitis pigmentosa UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0032577 MONDO:0019200 True retinitis pigmentosa 83 retinitis pigmentosa UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED MONDO:0032578 MONDO:0000904 True cortical dysplasia, complex, with other brain malformations 9 complex cortical dysplasia with other brain malformations UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0032580 MONDO:0002350 True nephrotic syndrome, type 17 familial nephrotic syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0032581 MONDO:0002350 True nephrotic syndrome, type 18 familial nephrotic syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0032582 MONDO:0002350 True nephrotic syndrome, type 19 familial nephrotic syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0032580 MONDO:0002350 True nephrotic syndrome, type 17 familial nephrotic syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0032581 MONDO:0002350 True nephrotic syndrome, type 18 familial nephrotic syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0032582 MONDO:0002350 True nephrotic syndrome, type 19 familial nephrotic syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED MONDO:0032583 MONDO:0016660 True microcephaly 24, primary, autosomal recessive autosomal recessive primary microcephaly UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0032584 MONDO:0019287 True ectodermal dysplasia 14, hair/tooth type with or without hypohidrosis ectodermal dysplasia syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0032584 MONDO:0019287 True ectodermal dysplasia 14, hair/tooth type with or without hypohidrosis ectodermal dysplasia syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED MONDO:0032586 MONDO:0000824 True diarrhea 10, protein-losing enteropathy type congenital diarrhea UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0032588 MONDO:0020341 True periventricular nodular heterotopia 8 periventricular nodular heterotopia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0032590 MONDO:0009299 True ovarian dysgenesis 8 46 XX gonadal dysgenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0032590 MONDO:0009299 True ovarian dysgenesis 8 46 XX gonadal dysgenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED MONDO:0032591 MONDO:0016166 True hyperparathyroidism, transient neonatal hereditary hyperparathyroidism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0032592 MONDO:0016333 True cardiomyopathy, dilated, 2c familial dilated cardiomyopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0032596 MONDO:0018940 True myasthenic syndrome, congenital, 23, presynaptic congenital myasthenic syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0032597 MONDO:0018940 True myasthenic syndrome, congenital, 24, presynaptic congenital myasthenic syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0032598 MONDO:0100062 True developmental and epileptic encephalopathy, 68 developmental and epileptic encephalopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0032598 MONDO:0100062 True developmental and epileptic encephalopathy, 68 developmental and epileptic encephalopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED MONDO:0032599 MONDO:0021094 True immunodeficiency 15a immunodeficiency disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0032603 MONDO:0020927 True polydactyly, postaxial, type A9 postaxial polydactyly UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0032604 MONDO:0019200 True retinitis pigmentosa 84 retinitis pigmentosa UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0032605 MONDO:0019502 True intellectual disability, autosomal recessive 66 autosomal recessive non-syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0032606 MONDO:0100223 True mitochondrial complex 1 deficiency, nuclear type 2 mitochondrial complex I deficiency, nuclear type UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0032608 MONDO:0100223 True mitochondrial complex 1 deficiency, nuclear type 3 mitochondrial complex I deficiency, nuclear type UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0032609 MONDO:0100223 True mitochondrial complex 1 deficiency, nuclear type 4 mitochondrial complex I deficiency, nuclear type UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0032610 MONDO:0100223 True mitochondrial complex 1 deficiency, nuclear type 5 mitochondrial complex I deficiency, nuclear type UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0032611 MONDO:0100223 True mitochondrial complex 1 deficiency, nuclear type 6 mitochondrial complex I deficiency, nuclear type UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0032612 MONDO:0100223 True mitochondrial complex 1 deficiency, nuclear type 7 mitochondrial complex I deficiency, nuclear type UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0032613 MONDO:0100223 True mitochondrial complex 1 deficiency, nuclear type 8 mitochondrial complex I deficiency, nuclear type UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0032604 MONDO:0019200 True retinitis pigmentosa 84 retinitis pigmentosa UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0032605 MONDO:0019502 True intellectual disability, autosomal recessive 66 autosomal recessive non-syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0032606 MONDO:0100223 True mitochondrial complex 1 deficiency, nuclear type 2 mitochondrial complex I deficiency, nuclear type UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0032607 MONDO:0003847 True vertebral anomalies and variable endocrine and T-cell dysfunction hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0032608 MONDO:0100223 True mitochondrial complex 1 deficiency, nuclear type 3 mitochondrial complex I deficiency, nuclear type UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0032609 MONDO:0100223 True mitochondrial complex 1 deficiency, nuclear type 4 mitochondrial complex I deficiency, nuclear type UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0032610 MONDO:0100223 True mitochondrial complex 1 deficiency, nuclear type 5 mitochondrial complex I deficiency, nuclear type UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0032611 MONDO:0100223 True mitochondrial complex 1 deficiency, nuclear type 6 mitochondrial complex I deficiency, nuclear type UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0032612 MONDO:0100223 True mitochondrial complex 1 deficiency, nuclear type 7 mitochondrial complex I deficiency, nuclear type UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0032613 MONDO:0100223 True mitochondrial complex 1 deficiency, nuclear type 8 mitochondrial complex I deficiency, nuclear type UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED MONDO:0032614 MONDO:0100043 True epidermodysplasia verruciformis, susceptibility to, 2 epidermodysplasia verruciformis, susceptibility to UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0032615 MONDO:0100223 True mitochondrial complex 1 deficiency, nuclear type 9 mitochondrial complex I deficiency, nuclear type UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0032616 MONDO:0100223 True mitochondrial complex 1 deficiency, nuclear type 10 mitochondrial complex I deficiency, nuclear type UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0032617 MONDO:0100223 True mitochondrial complex 1 deficiency, nuclear type 11 mitochondrial complex I deficiency, nuclear type UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0032618 MONDO:0100223 True mitochondrial complex 1 deficiency, nuclear type 13 mitochondrial complex I deficiency, nuclear type UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0032619 MONDO:0100223 True mitochondrial complex 1 deficiency, nuclear type 14 mitochondrial complex I deficiency, nuclear type UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0032620 MONDO:0100223 True mitochondrial complex 1 deficiency, nuclear type 15 mitochondrial complex I deficiency, nuclear type UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0032621 MONDO:0100223 True mitochondrial complex 1 deficiency, nuclear type 16 mitochondrial complex I deficiency, nuclear type UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0032622 MONDO:0100223 True mitochondrial complex 1 deficiency, nuclear type 17 mitochondrial complex I deficiency, nuclear type UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0032623 MONDO:0100223 True mitochondrial complex 1 deficiency, nuclear type 18 mitochondrial complex I deficiency, nuclear type UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0032624 MONDO:0100223 True mitochondrial complex 1 deficiency, nuclear type 19 mitochondrial complex I deficiency, nuclear type UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0032625 MONDO:0100223 True mitochondrial complex 1 deficiency, nuclear type 21 mitochondrial complex I deficiency, nuclear type UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0032626 MONDO:0100223 True mitochondrial complex 1 deficiency, nuclear type 22 mitochondrial complex I deficiency, nuclear type UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0032627 MONDO:0100223 True mitochondrial complex 1 deficiency, nuclear type 23 mitochondrial complex I deficiency, nuclear type UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0032628 MONDO:0100223 True mitochondrial complex 1 deficiency, nuclear type 24 mitochondrial complex I deficiency, nuclear type UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0032629 MONDO:0100223 True mitochondrial complex 1 deficiency, nuclear type 25 mitochondrial complex I deficiency, nuclear type UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0032630 MONDO:0100223 True mitochondrial complex 1 deficiency, nuclear type 26 mitochondrial complex I deficiency, nuclear type UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0032631 MONDO:0100223 True mitochondrial complex 1 deficiency, nuclear type 27 mitochondrial complex I deficiency, nuclear type UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0032632 MONDO:0100223 True mitochondrial complex 1 deficiency, nuclear type 28 mitochondrial complex I deficiency, nuclear type UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0032633 MONDO:0100223 True mitochondrial complex 1 deficiency, nuclear type 29 mitochondrial complex I deficiency, nuclear type UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0032634 MONDO:0100223 True mitochondrial complex 1 deficiency, nuclear type 31 mitochondrial complex I deficiency, nuclear type UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0032635 MONDO:0100223 True mitochondrial complex 1 deficiency, nuclear type 32 mitochondrial complex I deficiency, nuclear type UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0032636 MONDO:0100223 True mitochondrial complex 1 deficiency, nuclear type 33 mitochondrial complex I deficiency, nuclear type UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0032637 MONDO:0016575 True ciliary dyskinesia, primary, 39 primary ciliary dyskinesia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0032639 MONDO:0019588 True hearing loss, autosomal recessive 112 hearing loss, autosomal recessive UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0032615 MONDO:0100223 True mitochondrial complex 1 deficiency, nuclear type 9 mitochondrial complex I deficiency, nuclear type UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0032616 MONDO:0100223 True mitochondrial complex 1 deficiency, nuclear type 10 mitochondrial complex I deficiency, nuclear type UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0032617 MONDO:0100223 True mitochondrial complex 1 deficiency, nuclear type 11 mitochondrial complex I deficiency, nuclear type UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0032618 MONDO:0100223 True mitochondrial complex 1 deficiency, nuclear type 13 mitochondrial complex I deficiency, nuclear type UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0032619 MONDO:0100223 True mitochondrial complex 1 deficiency, nuclear type 14 mitochondrial complex I deficiency, nuclear type UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0032620 MONDO:0100223 True mitochondrial complex 1 deficiency, nuclear type 15 mitochondrial complex I deficiency, nuclear type UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0032621 MONDO:0100223 True mitochondrial complex 1 deficiency, nuclear type 16 mitochondrial complex I deficiency, nuclear type UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0032622 MONDO:0100223 True mitochondrial complex 1 deficiency, nuclear type 17 mitochondrial complex I deficiency, nuclear type UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0032623 MONDO:0100223 True mitochondrial complex 1 deficiency, nuclear type 18 mitochondrial complex I deficiency, nuclear type UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0032624 MONDO:0100223 True mitochondrial complex 1 deficiency, nuclear type 19 mitochondrial complex I deficiency, nuclear type UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0032625 MONDO:0100223 True mitochondrial complex 1 deficiency, nuclear type 21 mitochondrial complex I deficiency, nuclear type UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0032626 MONDO:0100223 True mitochondrial complex 1 deficiency, nuclear type 22 mitochondrial complex I deficiency, nuclear type UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0032627 MONDO:0100223 True mitochondrial complex 1 deficiency, nuclear type 23 mitochondrial complex I deficiency, nuclear type UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0032628 MONDO:0100223 True mitochondrial complex 1 deficiency, nuclear type 24 mitochondrial complex I deficiency, nuclear type UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0032629 MONDO:0100223 True mitochondrial complex 1 deficiency, nuclear type 25 mitochondrial complex I deficiency, nuclear type UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0032630 MONDO:0100223 True mitochondrial complex 1 deficiency, nuclear type 26 mitochondrial complex I deficiency, nuclear type UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0032631 MONDO:0100223 True mitochondrial complex 1 deficiency, nuclear type 27 mitochondrial complex I deficiency, nuclear type UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0032632 MONDO:0100223 True mitochondrial complex 1 deficiency, nuclear type 28 mitochondrial complex I deficiency, nuclear type UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0032633 MONDO:0100223 True mitochondrial complex 1 deficiency, nuclear type 29 mitochondrial complex I deficiency, nuclear type UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0032634 MONDO:0100223 True mitochondrial complex 1 deficiency, nuclear type 31 mitochondrial complex I deficiency, nuclear type UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0032635 MONDO:0100223 True mitochondrial complex 1 deficiency, nuclear type 32 mitochondrial complex I deficiency, nuclear type UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0032636 MONDO:0100223 True mitochondrial complex 1 deficiency, nuclear type 33 mitochondrial complex I deficiency, nuclear type UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0032637 MONDO:0016575 True ciliary dyskinesia, primary, 39 primary ciliary dyskinesia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0032639 MONDO:0019588 True hearing loss, autosomal recessive 112 hearing loss, autosomal recessive UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED MONDO:0032641 MONDO:0016558 True mirror movements 4 familial congenital mirror movements UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0032643 MONDO:0020135 True pontocerebellar hypoplasia, type 12 pontocerebellar hypoplasia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0032643 MONDO:0020135 True pontocerebellar hypoplasia, type 12 pontocerebellar hypoplasia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED MONDO:0032644 MONDO:0100043 True epidermodysplasia verruciformis, susceptibility to, 3 epidermodysplasia verruciformis, susceptibility to UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0032646 MONDO:0019719 True congenital anomalies of kidney and urinary tract 3 congenital anomaly of kidney and urinary tract UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0032649 MONDO:0003037 True hypotrichosis 14 hypotrichosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0032654 MONDO:0018037 True hyper-IgE recurrent infection syndrome 3, autosomal recessive hyper-IgE syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0032657 MONDO:0100062 True developmental and epileptic encephalopathy, 69 developmental and epileptic encephalopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0032660 MONDO:0018190 True spinal muscular atrophy, lower extremity-predominant, 2b, prenatal onset, autosomal dominant autosomal dominant childhood-onset proximal spinal muscular atrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0032662 MONDO:0019502 True intellectual developmental disorder, autosomal recessive 67 autosomal recessive non-syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0032663 MONDO:0100062 True developmental and epileptic encephalopathy, 70 developmental and epileptic encephalopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0032664 MONDO:0016575 True ciliary dyskinesia, primary, 40 primary ciliary dyskinesia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0032665 MONDO:0019502 True intellectual developmental disorder, autosomal recessive 68 autosomal recessive non-syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0032648 MONDO:0003847 True mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0032649 MONDO:0003037 True hypotrichosis 14 hypotrichosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0032654 MONDO:0018037 True hyper-IgE recurrent infection syndrome 3, autosomal recessive hyper-IgE syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0032655 MONDO:0003847 True visual impairment and progressive phthisis bulbi hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0032657 MONDO:0100062 True developmental and epileptic encephalopathy, 69 developmental and epileptic encephalopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0032660 MONDO:0018190 True spinal muscular atrophy, lower extremity-predominant, 2b, prenatal onset, autosomal dominant autosomal dominant childhood-onset proximal spinal muscular atrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0032662 MONDO:0019502 True intellectual developmental disorder, autosomal recessive 67 autosomal recessive non-syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0032663 MONDO:0100062 True developmental and epileptic encephalopathy, 70 developmental and epileptic encephalopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0032664 MONDO:0016575 True ciliary dyskinesia, primary, 40 primary ciliary dyskinesia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0032665 MONDO:0019502 True intellectual developmental disorder, autosomal recessive 68 autosomal recessive non-syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED MONDO:0032666 MONDO:0100043 True epidermodysplasia verruciformis, susceptibility to, 4 epidermodysplasia verruciformis, susceptibility to UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0032667 MONDO:0100043 True epidermodysplasia verruciformis, susceptibility to, 5 epidermodysplasia verruciformis, susceptibility to UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0032668 MONDO:0015253 True Diamond-Blackfan anemia 18 Diamond-Blackfan anemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0032669 MONDO:0015253 True Diamond-Blackfan anemia 19 Diamond-Blackfan anemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0032670 MONDO:0015253 True Diamond-Blackfan anemia 20 Diamond-Blackfan anemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0032668 MONDO:0015253 True Diamond-Blackfan anemia 18 Diamond-Blackfan anemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0032669 MONDO:0015253 True Diamond-Blackfan anemia 19 Diamond-Blackfan anemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0032670 MONDO:0015253 True Diamond-Blackfan anemia 20 Diamond-Blackfan anemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED MONDO:0032673 MONDO:0008947 True basal ganglia calcification, idiopathic, 7, autosomal recessive bilateral striopallidodentate calcinosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0032675 MONDO:0018940 True myasthenic syndrome, congenital, 25, presynaptic congenital myasthenic syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0032678 MONDO:0100062 True developmental and epileptic encephalopathy, 71 developmental and epileptic encephalopathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0032679 MONDO:0000732 True combined oxidative phosphorylation deficiency 37 combined oxidative phosphorylation deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0032686 MONDO:0004983 True spermatogenic failure 35 spermatogenic failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0032689 MONDO:0019200 True retinitis pigmentosa 85 retinitis pigmentosa UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0032678 MONDO:0100062 True developmental and epileptic encephalopathy, 71 developmental and epileptic encephalopathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0032679 MONDO:0000732 True combined oxidative phosphorylation deficiency 37 combined oxidative phosphorylation deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0032686 MONDO:0004983 True spermatogenic failure 35 spermatogenic failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0032687 MONDO:0003847 True intellectual developmental disorder with abnormal behavior, microcephaly, and short stature hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0032689 MONDO:0019200 True retinitis pigmentosa 85 retinitis pigmentosa UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED MONDO:0032691 MONDO:0009627 True Galloway-Mowat syndrome 6 Galloway-Mowat syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0032692 MONDO:0009627 True Galloway-Mowat syndrome 7 Galloway-Mowat syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0032693 MONDO:0009627 True Galloway-Mowat syndrome 8 Galloway-Mowat syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0032694 MONDO:0016660 True microcephaly 25, primary, autosomal recessive autosomal recessive primary microcephaly UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0032696 MONDO:0014769 True oocyte maturation defect 6 inherited oocyte maturation defect UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0032702 MONDO:0015452 True Coffin-Siris syndrome 8 Coffin-Siris syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0032706 MONDO:0015244 True spinocerebellar ataxia, autosomal recessive 27 autosomal recessive cerebellar ataxia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0032710 MONDO:0100062 True developmental and epileptic encephalopathy, 72 developmental and epileptic encephalopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0032712 MONDO:0000732 True combined oxidative phosphorylation deficiency 38 combined oxidative phosphorylation deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0032715 MONDO:0019502 True intellectual developmental disorder, autosomal recessive 69 autosomal recessive non-syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0032717 MONDO:0019507 True amelogenesis imperfecta, type 3c amelogenesis imperfecta UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0032702 MONDO:0015452 True Coffin-Siris syndrome 8 Coffin-Siris syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0032705 MONDO:0017313 True neurodevelopmental disorder with microcephaly, epilepsy, and hypomyelination disorder of folate metabolism and transport UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0032705 MONDO:0019046 True neurodevelopmental disorder with microcephaly, epilepsy, and hypomyelination leukodystrophy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0032706 MONDO:0015244 True spinocerebellar ataxia, autosomal recessive 27 autosomal recessive cerebellar ataxia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0032710 MONDO:0100062 True developmental and epileptic encephalopathy, 72 developmental and epileptic encephalopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0032712 MONDO:0000732 True combined oxidative phosphorylation deficiency 38 combined oxidative phosphorylation deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0032715 MONDO:0019502 True intellectual developmental disorder, autosomal recessive 69 autosomal recessive non-syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0032717 MONDO:0019507 True amelogenesis imperfecta, type 3c amelogenesis imperfecta UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0032721 MONDO:0016761 True spondyloepiphyseal dysplasia, kondo-fu type spondyloepiphyseal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0032723 MONDO:0021094 True immunodeficiency 60 immunodeficiency disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0032724 MONDO:0019675 True spondyloepimetaphyseal dysplasia with joint laxity, type 3 spondyloepimetaphyseal dysplasia with joint laxity UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0032725 MONDO:0100062 True developmental and epileptic encephalopathy, 74 developmental and epileptic encephalopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0032726 MONDO:0000732 True combined oxidative phosphorylation deficiency 39 combined oxidative phosphorylation deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0032729 MONDO:0019502 True intellectual developmental disorder, autosomal recessive 70 autosomal recessive non-syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0032730 MONDO:0019046 True leukodystrophy, hypomyelinating, 18 leukodystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0032732 MONDO:0019588 True hearing loss, autosomal recessive 113 hearing loss, autosomal recessive UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0032735 MONDO:0005129 True cataract 48 cataract UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0032739 MONDO:0004983 True spermatogenic failure 36 spermatogenic failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0032740 MONDO:0019588 True hearing loss, autosomal recessive 100 hearing loss, autosomal recessive UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0032744 MONDO:0004983 True spermatogenic failure 37 spermatogenic failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0032724 MONDO:0006025 True spondyloepimetaphyseal dysplasia with joint laxity, type 3 autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0032724 MONDO:0019675 True spondyloepimetaphyseal dysplasia with joint laxity, type 3 spondyloepimetaphyseal dysplasia with joint laxity UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0032725 MONDO:0100062 True developmental and epileptic encephalopathy, 74 developmental and epileptic encephalopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0032726 MONDO:0000732 True combined oxidative phosphorylation deficiency 39 combined oxidative phosphorylation deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0032728 MONDO:0018993 True Charcot-Marie-Tooth disease, axonal, type 2EE Charcot-Marie-Tooth disease type 2 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0032729 MONDO:0019502 True intellectual developmental disorder, autosomal recessive 70 autosomal recessive non-syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0032730 MONDO:0019046 True leukodystrophy, hypomyelinating, 18 leukodystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0032732 MONDO:0019588 True hearing loss, autosomal recessive 113 hearing loss, autosomal recessive UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0032735 MONDO:0005129 True cataract 48 cataract UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0032737 MONDO:0019064 True spastic paraplegia 80, autosomal dominant hereditary spastic paraplegia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED +MONDO:0032739 MONDO:0004983 True spermatogenic failure 36 spermatogenic failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0032740 MONDO:0019588 True hearing loss, autosomal recessive 100 hearing loss, autosomal recessive UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0032744 MONDO:0004983 True spermatogenic failure 37 spermatogenic failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED MONDO:0032746 MONDO:0006248 True hydatidiform mole, recurrent, 3 hydatidiform mole UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0032747 MONDO:0006248 True hydatidiform mole, recurrent, 4 hydatidiform mole UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0032748 MONDO:0004983 True spermatogenic failure 38 spermatogenic failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0032749 MONDO:0019588 True hearing loss, autosomal recessive 94 hearing loss, autosomal recessive UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0032752 MONDO:0100062 True developmental and epileptic encephalopathy, 75 developmental and epileptic encephalopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0032748 MONDO:0004983 True spermatogenic failure 38 spermatogenic failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0032749 MONDO:0019588 True hearing loss, autosomal recessive 94 hearing loss, autosomal recessive UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0032750 MONDO:0000426 True arthrogryposis, distal, type 2B2 autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0032750 MONDO:0011128 True arthrogryposis, distal, type 2B2 Sheldon-hall syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0032751 MONDO:0000426 True arthrogryposis, distal, type 2B3 autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0032751 MONDO:0011128 True arthrogryposis, distal, type 2B3 Sheldon-hall syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0032752 MONDO:0100062 True developmental and epileptic encephalopathy, 75 developmental and epileptic encephalopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED MONDO:0032753 MONDO:0017845 True spastic ataxia 9, autosomal recessive spastic ataxia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0032756 MONDO:0019171 True long qt syndrome 8 familial long QT syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0032757 MONDO:0016575 True ciliary dyskinesia, primary, 41 primary ciliary dyskinesia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0032761 MONDO:0019588 True hearing loss, autosomal recessive 114 hearing loss, autosomal recessive UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0032762 MONDO:0019588 True hearing loss, autosomal recessive 115 hearing loss, autosomal recessive UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0032757 MONDO:0016575 True ciliary dyskinesia, primary, 41 primary ciliary dyskinesia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0032761 MONDO:0019588 True hearing loss, autosomal recessive 114 hearing loss, autosomal recessive UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0032762 MONDO:0019588 True hearing loss, autosomal recessive 115 hearing loss, autosomal recessive UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED MONDO:0032763 MONDO:0021094 True immunodeficiency 62 immunodeficiency disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0032765 MONDO:0000009 True bleeding disorder, platelet-type, 22 inherited bleeding disorder, platelet-type UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0032766 MONDO:0003847 True hypoalphalipoproteinemia, primary, 2 hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0032767 MONDO:0000448 True paragangliomas 6 paraganglioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0032768 MONDO:0100062 True developmental and epileptic encephalopathy, 76 developmental and epileptic encephalopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0032768 MONDO:0100062 True developmental and epileptic encephalopathy, 76 developmental and epileptic encephalopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED MONDO:0032771 MONDO:0000448 True paragangliomas 7 paraganglioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0032776 MONDO:0019588 True hearing loss, autosomal recessive 99 hearing loss, autosomal recessive UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0032777 MONDO:0018214 True generalized epilepsy with febrile seizures plus, type 10 generalized epilepsy with febrile seizures plus UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0032778 MONDO:0015168 True arthrogryposis multiplex congenita 3, myogenic type arthrogryposis multiplex congenita UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0032776 MONDO:0019588 True hearing loss, autosomal recessive 99 hearing loss, autosomal recessive UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0032777 MONDO:0018214 True generalized epilepsy with febrile seizures plus, type 10 generalized epilepsy with febrile seizures plus UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0032778 MONDO:0015168 True arthrogryposis multiplex congenita 3, myogenic type arthrogryposis multiplex congenita UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED MONDO:0032782 MONDO:0021094 True immunodeficiency 63 with lymphoproliferation and autoimmunity immunodeficiency disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0032783 MONDO:0007194 True aortic valve disease 3 familial bicuspid aortic valve UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0032783 MONDO:0007194 True aortic valve disease 3 familial bicuspid aortic valve UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED MONDO:0032785 MONDO:0020927 True polydactyly, postaxial, type a10 postaxial polydactyly UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0032786 MONDO:0018997 True Noonan syndrome 11 Noonan syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0032786 MONDO:0018997 True Noonan syndrome 11 Noonan syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED MONDO:0032787 MONDO:0016296 True holoprosencephaly 12 with or without pancreatic agenesis holoprosencephaly UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0032789 MONDO:0019502 True intellectual developmental disorder, autosomal recessive 71 autosomal recessive non-syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0032791 MONDO:0015452 True Coffin-Siris syndrome 10 Coffin-Siris syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0032794 MONDO:0018998 True leber congenital amaurosis 19 Leber congenital amaurosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0032796 MONDO:0018037 True hyper-IgE recurrent infection syndrome 4, autosomal recessive hyper-IgE syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0032789 MONDO:0019502 True intellectual developmental disorder, autosomal recessive 71 autosomal recessive non-syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0032791 MONDO:0015452 True Coffin-Siris syndrome 10 Coffin-Siris syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0032794 MONDO:0018998 True leber congenital amaurosis 19 Leber congenital amaurosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0032796 MONDO:0018037 True hyper-IgE recurrent infection syndrome 4, autosomal recessive hyper-IgE syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0032797 MONDO:0019952 True myopathy, congenital, with tremor congenital myopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED MONDO:0032799 MONDO:0018158 True mitochondrial DNA depletion syndrome 16 (hepatic type) mitochondrial DNA depletion syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0032800 MONDO:0019978 True robinow syndrome, autosomal recessive 2 Robinow syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0032801 MONDO:0017851 True erythrokeratodermia variabilis et progressiva 6 erythrokeratodermia variabilis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0032801 MONDO:0017851 True erythrokeratodermia variabilis et progressiva 6 erythrokeratodermia variabilis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED MONDO:0032802 MONDO:0019587 True hearing loss, autosomal dominant 37 autosomal dominant nonsyndromic hearing loss UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0032803 MONDO:0021094 True immunodeficiency 64 immunodeficiency disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0032804 MONDO:0019287 True ectodermal dysplasia 15, hypohidrotic/hair type ectodermal dysplasia syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0032806 MONDO:0018053 True trichothiodystrophy 7, nonphotosensitive trichothiodystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0032804 MONDO:0019287 True ectodermal dysplasia 15, hypohidrotic/hair type ectodermal dysplasia syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0032806 MONDO:0018053 True trichothiodystrophy 7, nonphotosensitive trichothiodystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0032808 MONDO:0002525 True developmental and epileptic encephalopathy, 77 inherited lipid metabolism disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0032808 MONDO:0100062 True developmental and epileptic encephalopathy, 77 developmental and epileptic encephalopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0032808 MONDO:0100247 True developmental and epileptic encephalopathy, 77 multiple congenital anomalies-hypotonia-seizures syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0032808 MONDO:0100247 True developmental and epileptic encephalopathy, 77 multiple congenital anomalies-hypotonia-seizures syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED MONDO:0032810 MONDO:0014769 True oocyte maturation defect 7 inherited oocyte maturation defect UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0032811 MONDO:0016293 True night blindness, congenital stationary, type1i congenital stationary night blindness UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0032812 MONDO:0100062 True developmental and epileptic encephalopathy, 78 developmental and epileptic encephalopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0032813 MONDO:0100062 True developmental and epileptic encephalopathy, 79 developmental and epileptic encephalopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0032812 MONDO:0100062 True developmental and epileptic encephalopathy, 78 developmental and epileptic encephalopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0032813 MONDO:0100062 True developmental and epileptic encephalopathy, 79 developmental and epileptic encephalopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED MONDO:0032815 MONDO:0018158 True mitochondrial DNA depletion syndrome 17 mitochondrial DNA depletion syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0032819 MONDO:0000045 True hypothyroidism, congenital, nongoitrous, 7 hypothyroidism, congenital, nongoitrous UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0032822 MONDO:0100062 True developmental and epileptic encephalopathy, 80 developmental and epileptic encephalopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0032826 MONDO:0002350 True nephrotic syndrome, type 21 familial nephrotic syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0032831 MONDO:0020135 True pontocerebellar hypoplasia, type 13 pontocerebellar hypoplasia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0032834 MONDO:0019200 True retinitis pigmentosa 86 retinitis pigmentosa UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0032837 MONDO:0000816 True abdominal obesity-metabolic syndrome 4 abdominal obesity-metabolic syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0032839 MONDO:0018997 True noonan syndrome 12 Noonan syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0032819 MONDO:0016410 True hypothyroidism, congenital, nongoitrous, 7 central congenital hypothyroidism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0032821 MONDO:0019952 True myopathy, congenital, progressive, with scoliosis congenital myopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0032822 MONDO:0100062 True developmental and epileptic encephalopathy, 80 developmental and epileptic encephalopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0032826 MONDO:0002350 True nephrotic syndrome, type 21 familial nephrotic syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0032831 MONDO:0020135 True pontocerebellar hypoplasia, type 13 pontocerebellar hypoplasia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0032834 MONDO:0019200 True retinitis pigmentosa 86 retinitis pigmentosa UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0032835 MONDO:0016761 True spondyloepiphyseal dysplasia, nishimura type spondyloepiphyseal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0032837 MONDO:0000816 True abdominal obesity-metabolic syndrome 4 abdominal obesity-metabolic syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0032839 MONDO:0018997 True noonan syndrome 12 Noonan syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0032842 MONDO:0003847 True Siddiqi syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0032844 MONDO:0000023 True infantile liver failure syndrome 3 infantile liver failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0032845 MONDO:0004983 True spermatogenic failure 39 spermatogenic failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0032846 MONDO:0019019 True osteogenesis imperfecta, type 20 osteogenesis imperfecta UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0032845 MONDO:0004983 True spermatogenic failure 39 spermatogenic failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0032846 MONDO:0019019 True osteogenesis imperfecta, type 20 osteogenesis imperfecta UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED MONDO:0032848 MONDO:0021094 True immunodeficiency 65, susceptibility to viral infections immunodeficiency disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0032850 MONDO:0003847 True neurooculocardiogenitourinary syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0032852 MONDO:0019952 True myopathy, congenital, with structured cores and z-line abnormalities congenital myopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED MONDO:0032854 MONDO:0000200 True zimmermann-laband syndrome 3 Zimmermann-Laband syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0032857 MONDO:0000824 True diarrhea 11, malabsorptive, congenital congenital diarrhea UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0032858 MONDO:0100062 True developmental and epileptic encephalopathy, 81 developmental and epileptic encephalopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0032859 MONDO:0004983 True spermatogenic failure 40 spermatogenic failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0032860 MONDO:0019502 True intellectual developmental disorder, autosomal recessive 72 autosomal recessive non-syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0032863 MONDO:0004983 True spermatogenic failure 41 spermatogenic failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0032858 MONDO:0100062 True developmental and epileptic encephalopathy, 81 developmental and epileptic encephalopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0032859 MONDO:0004983 True spermatogenic failure 40 spermatogenic failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0032860 MONDO:0019502 True intellectual developmental disorder, autosomal recessive 72 autosomal recessive non-syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0032863 MONDO:0004983 True spermatogenic failure 41 spermatogenic failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED MONDO:0032865 MONDO:0000148 True pulmonary fibrosis and/or bone marrow failure, telomere-related, 5 pulmonary fibrosis and/or bone marrow failure, telomere-related UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0032866 MONDO:0000904 True cortical dysplasia, complex, with other brain malformations 10 complex cortical dysplasia with other brain malformations UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0032869 MONDO:0014471 True mitochondrial complex 5 (ATP synthase) deficiency, nuclear type 6 mitochondrial proton-transporting ATP synthase complex deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0032871 MONDO:0019046 True leukodystrophy, hypomyelinating, 19, transient infantile leukodystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0032872 MONDO:0016575 True ciliary dyskinesia, primary, 42 primary ciliary dyskinesia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0032869 MONDO:0014471 True mitochondrial complex 5 (ATP synthase) deficiency, nuclear type 6 mitochondrial proton-transporting ATP synthase complex deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0032870 MONDO:0003847 True intellectual developmental disorder with short stature and behavioral abnormalities hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0032871 MONDO:0019046 True leukodystrophy, hypomyelinating, 19, transient infantile leukodystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0032872 MONDO:0016575 True ciliary dyskinesia, primary, 42 primary ciliary dyskinesia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED MONDO:0032873 MONDO:0019200 True retinitis pigmentosa 87 with choroidal involvement retinitis pigmentosa UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0032874 MONDO:0016575 True ciliary dyskinesia, primary, 43 primary ciliary dyskinesia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0032880 MONDO:0100062 True developmental and epileptic encephalopathy, 82 developmental and epileptic encephalopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0032874 MONDO:0016575 True ciliary dyskinesia, primary, 43 primary ciliary dyskinesia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0032879 MONDO:0003847 True megabladder, congenital hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0032880 MONDO:0100062 True developmental and epileptic encephalopathy, 82 developmental and epileptic encephalopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED MONDO:0032881 MONDO:0019852 True premature ovarian failure 16 inherited primary ovarian failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0032891 MONDO:0016483 True aneurysm, intracranial berry, 12 intracranial berry aneurysm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0032895 MONDO:0100062 True developmental and epileptic encephalopathy, 83 developmental and epileptic encephalopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0032896 MONDO:0004983 True spermatogenic failure 42 spermatogenic failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0032898 MONDO:0004983 True spermatogenic failure 43 spermatogenic failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0032899 MONDO:0018542 True neutropenia, severe congenital, 8, autosomal dominant severe congenital neutropenia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0032891 MONDO:0016483 True aneurysm, intracranial berry, 12 intracranial berry aneurysm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0032895 MONDO:0100062 True developmental and epileptic encephalopathy, 83 developmental and epileptic encephalopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0032896 MONDO:0004983 True spermatogenic failure 42 spermatogenic failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0032898 MONDO:0004983 True spermatogenic failure 43 spermatogenic failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0032899 MONDO:0018542 True neutropenia, severe congenital, 8, autosomal dominant severe congenital neutropenia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED MONDO:0032902 MONDO:0018772 True Joubert syndrome 36 Joubert syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0032903 MONDO:0015168 True arthrogryposis multiplex congenita 4, neurogenic, with agenesis of the corpus callosum arthrogryposis multiplex congenita UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0032904 MONDO:0007379 True corneal dystrophy, Meesmann, 2 Meesmann corneal dystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0032903 MONDO:0015168 True arthrogryposis multiplex congenita 4, neurogenic, with agenesis of the corpus callosum arthrogryposis multiplex congenita UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0032904 MONDO:0007379 True corneal dystrophy, Meesmann, 2 Meesmann corneal dystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED MONDO:0032905 MONDO:0019064 True spastic paraplegia 81, autosomal recessive hereditary spastic paraplegia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0032906 MONDO:0019064 True spastic paraplegia 82, autosomal recessive hereditary spastic paraplegia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0032906 MONDO:0019064 True spastic paraplegia 82, autosomal recessive hereditary spastic paraplegia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED MONDO:0032907 MONDO:0019313 True lymphatic malformation 8 lymphatic malformation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0032909 MONDO:0020811 True mitochondrial complex 3 deficiency, nuclear type 10 mitochondrial complex III deficiency, nuclear type UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0032910 MONDO:0100223 True mitochondrial complex 1 deficiency, nuclear type 34 mitochondrial complex I deficiency, nuclear type UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0032911 MONDO:0019587 True hearing loss, autosomal dominant 75 autosomal dominant nonsyndromic hearing loss UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0032912 MONDO:0015452 True Coffin-Siris syndrome 11 Coffin-Siris syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0032914 MONDO:0016575 True ciliary dyskinesia, primary, 44 primary ciliary dyskinesia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0032910 MONDO:0100223 True mitochondrial complex 1 deficiency, nuclear type 34 mitochondrial complex I deficiency, nuclear type UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0032911 MONDO:0019587 True hearing loss, autosomal dominant 75 autosomal dominant nonsyndromic hearing loss UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0032912 MONDO:0015452 True Coffin-Siris syndrome 11 Coffin-Siris syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0032914 MONDO:0016575 True ciliary dyskinesia, primary, 44 primary ciliary dyskinesia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED MONDO:0032915 MONDO:0017990 True long QT syndrome 16 catecholaminergic polymorphic ventricular tachycardia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0032915 MONDO:0019171 True long QT syndrome 16 familial long QT syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0032917 MONDO:0019587 True hearing loss, autosomal dominant 76 autosomal dominant nonsyndromic hearing loss UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0032918 MONDO:0100062 True developmental and epileptic encephalopathy, 84 developmental and epileptic encephalopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0032923 MONDO:0015244 True spinocerebellar ataxia, autosomal recessive 28 autosomal recessive cerebellar ataxia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0032924 MONDO:0016575 True ciliary dyskinesia, primary, 45 primary ciliary dyskinesia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0032917 MONDO:0019587 True hearing loss, autosomal dominant 76 autosomal dominant nonsyndromic hearing loss UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0032918 MONDO:0100062 True developmental and epileptic encephalopathy, 84 developmental and epileptic encephalopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0032923 MONDO:0015244 True spinocerebellar ataxia, autosomal recessive 28 autosomal recessive cerebellar ataxia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0032924 MONDO:0016575 True ciliary dyskinesia, primary, 45 primary ciliary dyskinesia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0032926 MONDO:0003847 True sandestig-stefanova syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0032932 MONDO:0018158 True mitochondrial DNA depletion syndrome 18 mitochondrial DNA depletion syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0032936 MONDO:0019952 True myopathy, congenital, with respiratory insufficiency and bone fractures congenital myopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0032937 MONDO:0019952 True myopathy, congenital proximal, with minicore lesions congenital myopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED MONDO:0032938 MONDO:0008947 True basal ganglia calcification, idiopathic, 8, autosomal recessive bilateral striopallidodentate calcinosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0032940 MONDO:0019200 True retinitis pigmentosa 88 retinitis pigmentosa UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0032940 MONDO:0019200 True retinitis pigmentosa 88 retinitis pigmentosa UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED MONDO:0032941 MONDO:0001384 True myopia 27 myopia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0033005 MONDO:0009627 True Galloway-Mowat syndrome 1 Galloway-Mowat syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0033006 MONDO:0009627 True Galloway-Mowat syndrome 2, X-linked Galloway-Mowat syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0033007 MONDO:0009627 True Galloway-Mowat syndrome 3 Galloway-Mowat syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0033008 MONDO:0009627 True Galloway-Mowat syndrome 4 Galloway-Mowat syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0033009 MONDO:0009627 True Galloway-Mowat syndrome 5 Galloway-Mowat syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0033010 MONDO:0017851 True erythrokeratodermia variabilis et progressiva 1 erythrokeratodermia variabilis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0033012 MONDO:0017851 True erythrokeratodermia variabilis et progressiva 2 erythrokeratodermia variabilis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0033013 MONDO:0017851 True erythrokeratodermia variabilis et progressiva 3 erythrokeratodermia variabilis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0033014 MONDO:0017851 True erythrokeratodermia variabilis et progressiva 4 erythrokeratodermia variabilis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0033015 MONDO:0017851 True erythrokeratodermia variabilis et progressiva 5 erythrokeratodermia variabilis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0033044 MONDO:0018921 True Meckel syndrome 13 Meckel syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0033045 MONDO:0015375 True orofaciodigital syndrome 16 orofaciodigital syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0033046 MONDO:0016817 True Meier-Gorlin syndrome 8 Meier-Gorlin syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0033047 MONDO:0017312 True Perrault syndrome 6 Perrault syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0033091 MONDO:0017265 True ichthyosis, congenital, autosomal recessive 14 autosomal recessive congenital ichthyosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0033092 MONDO:0017265 True ichthyosis, congenital, autosomal recessive 13 autosomal recessive congenital ichthyosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0033115 MONDO:0015244 True spinocerebellar ataxia, autosomal recessive 25 autosomal recessive cerebellar ataxia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0033116 MONDO:0015244 True spinocerebellar ataxia, autosomal recessive 26 autosomal recessive cerebellar ataxia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0033123 MONDO:0019516 True exudative vitreoretinopathy 7 exudative vitreoretinopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0033135 MONDO:0015626 True Charcot-Marie-Tooth disease, demyelinating, type 1G Charcot-Marie-Tooth disease UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0033198 MONDO:0019588 True hearing loss, autosomal recessive 106 hearing loss, autosomal recessive UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0033199 MONDO:0019588 True hearing loss, autosomal recessive 107 hearing loss, autosomal recessive UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0033200 MONDO:0019588 True hearing loss, autosomal recessive 108 hearing loss, autosomal recessive UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0033201 MONDO:0019588 True hearing loss, autosomal recessive 57 hearing loss, autosomal recessive UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0033202 MONDO:0019588 True hearing loss, autosomal recessive 109 hearing loss, autosomal recessive UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0033203 MONDO:0002350 True nephrotic syndrome 14 familial nephrotic syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0033204 MONDO:0016575 True ciliary dyskinesia, primary, 37 primary ciliary dyskinesia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0033258 MONDO:0019587 True hearing loss, autosomal dominant 71 autosomal dominant nonsyndromic hearing loss UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0033259 MONDO:0019587 True hearing loss, autosomal dominant 72 autosomal dominant nonsyndromic hearing loss UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0033260 MONDO:0019587 True hearing loss, autosomal dominant 73 autosomal dominant nonsyndromic hearing loss UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0033261 MONDO:0019587 True hearing loss, autosomal dominant 34, with or without inflammation autosomal dominant nonsyndromic hearing loss UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0033262 MONDO:0002350 True nephrotic syndrome 15 familial nephrotic syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0033280 MONDO:0002350 True nephrotic syndrome 16 familial nephrotic syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0033282 MONDO:0017338 True multiple mitochondrial dysfunctions syndrome 5 fatal multiple mitochondrial dysfunctions syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0033308 MONDO:0018772 True Joubert syndrome 30 Joubert syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0033309 MONDO:0018772 True Joubert syndrome 32 Joubert syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0033310 MONDO:0018772 True Joubert syndrome 31 Joubert syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0033311 MONDO:0018772 True Joubert syndrome 33 Joubert syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0033361 MONDO:0100062 True developmental and epileptic encephalopathy, 52 developmental and epileptic encephalopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0033362 MONDO:0100062 True developmental and epileptic encephalopathy, 53 developmental and epileptic encephalopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0033363 MONDO:0100062 True developmental and epileptic encephalopathy, 54 developmental and epileptic encephalopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0033364 MONDO:0100062 True developmental and epileptic encephalopathy, 55 developmental and epileptic encephalopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0033365 MONDO:0100062 True developmental and epileptic encephalopathy, 56 developmental and epileptic encephalopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0033366 MONDO:0100062 True developmental and epileptic encephalopathy, 57 developmental and epileptic encephalopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0033367 MONDO:0100062 True developmental and epileptic encephalopathy, 58 developmental and epileptic encephalopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0033368 MONDO:0100062 True developmental and epileptic encephalopathy, 59 developmental and epileptic encephalopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0033369 MONDO:0100062 True developmental and epileptic encephalopathy, 60 developmental and epileptic encephalopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0033370 MONDO:0100062 True developmental and epileptic encephalopathy, 61 developmental and epileptic encephalopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0033371 MONDO:0100062 True developmental and epileptic encephalopathy, 62 developmental and epileptic encephalopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0033372 MONDO:0100062 True developmental and epileptic encephalopathy, 63 developmental and epileptic encephalopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0033373 MONDO:0100062 True developmental and epileptic encephalopathy, 64 developmental and epileptic encephalopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0033374 MONDO:0100062 True developmental and epileptic encephalopathy, 65 developmental and epileptic encephalopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0033375 MONDO:0015375 True orofaciodigital syndrome 17 orofaciodigital syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0033479 MONDO:0020380 True spinocerebellar ataxia 44 autosomal dominant cerebellar ataxia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0033482 MONDO:0020380 True spinocerebellar ataxia 47 autosomal dominant cerebellar ataxia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0033483 MONDO:0001115 True erythrocytosis, familial, 5 familial polycythemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0033485 MONDO:0018770 True short-rib thoracic dysplasia 19 with or without polydactyly Jeune syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0033486 MONDO:0019046 True leukodystrophy, hypomyelinating, 14 leukodystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0033493 MONDO:0016070 True fibromatosis, gingival, 5 hereditary gingival fibromatosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0033533 MONDO:0000732 True combined oxidative phosphorylation deficiency 45 combined oxidative phosphorylation deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0033534 MONDO:0000732 True combined oxidative phosphorylation deficiency 46 combined oxidative phosphorylation deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0033537 MONDO:0000732 True combined oxidative phosphorylation deficiency 47 combined oxidative phosphorylation deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0033004 MONDO:0009889 True polycystic kidney disease 4 autosomal recessive polycystic kidney disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0033005 MONDO:0009627 True Galloway-Mowat syndrome 1 Galloway-Mowat syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0033006 MONDO:0009627 True Galloway-Mowat syndrome 2, X-linked Galloway-Mowat syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0033007 MONDO:0009627 True Galloway-Mowat syndrome 3 Galloway-Mowat syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0033008 MONDO:0009627 True Galloway-Mowat syndrome 4 Galloway-Mowat syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0033009 MONDO:0009627 True Galloway-Mowat syndrome 5 Galloway-Mowat syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0033010 MONDO:0017851 True erythrokeratodermia variabilis et progressiva 1 erythrokeratodermia variabilis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0033012 MONDO:0017851 True erythrokeratodermia variabilis et progressiva 2 erythrokeratodermia variabilis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0033013 MONDO:0017851 True erythrokeratodermia variabilis et progressiva 3 erythrokeratodermia variabilis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0033014 MONDO:0017851 True erythrokeratodermia variabilis et progressiva 4 erythrokeratodermia variabilis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0033015 MONDO:0017851 True erythrokeratodermia variabilis et progressiva 5 erythrokeratodermia variabilis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0033043 MONDO:0017847 True spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy autosomal recessive spastic ataxia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0033043 MONDO:0019046 True spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy leukodystrophy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS +MONDO:0033044 MONDO:0018921 True Meckel syndrome 13 Meckel syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0033045 MONDO:0015375 True orofaciodigital syndrome 16 orofaciodigital syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0033046 MONDO:0016817 True Meier-Gorlin syndrome 8 Meier-Gorlin syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0033047 MONDO:0017312 True Perrault syndrome 6 Perrault syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0033091 MONDO:0017265 True ichthyosis, congenital, autosomal recessive 14 autosomal recessive congenital ichthyosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0033092 MONDO:0017265 True ichthyosis, congenital, autosomal recessive 13 autosomal recessive congenital ichthyosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0033115 MONDO:0015244 True spinocerebellar ataxia, autosomal recessive 25 autosomal recessive cerebellar ataxia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0033116 MONDO:0015244 True spinocerebellar ataxia, autosomal recessive 26 autosomal recessive cerebellar ataxia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0033123 MONDO:0019516 True exudative vitreoretinopathy 7 exudative vitreoretinopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0033135 MONDO:0000426 True Charcot-Marie-Tooth disease, demyelinating, type 1G autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0033135 MONDO:0015626 True Charcot-Marie-Tooth disease, demyelinating, type 1G Charcot-Marie-Tooth disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0033198 MONDO:0019588 True hearing loss, autosomal recessive 106 hearing loss, autosomal recessive UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0033199 MONDO:0019588 True hearing loss, autosomal recessive 107 hearing loss, autosomal recessive UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0033200 MONDO:0019588 True hearing loss, autosomal recessive 108 hearing loss, autosomal recessive UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0033201 MONDO:0019588 True hearing loss, autosomal recessive 57 hearing loss, autosomal recessive UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0033202 MONDO:0019588 True hearing loss, autosomal recessive 109 hearing loss, autosomal recessive UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0033203 MONDO:0002350 True nephrotic syndrome 14 familial nephrotic syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0033203 MONDO:0018117 True nephrotic syndrome 14 disorder of phospholipids, sphingolipids and fatty acids biosynthesis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0033204 MONDO:0016575 True ciliary dyskinesia, primary, 37 primary ciliary dyskinesia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0033258 MONDO:0019587 True hearing loss, autosomal dominant 71 autosomal dominant nonsyndromic hearing loss UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0033259 MONDO:0019587 True hearing loss, autosomal dominant 72 autosomal dominant nonsyndromic hearing loss UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0033260 MONDO:0019587 True hearing loss, autosomal dominant 73 autosomal dominant nonsyndromic hearing loss UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0033261 MONDO:0019587 True hearing loss, autosomal dominant 34, with or without inflammation autosomal dominant nonsyndromic hearing loss UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0033262 MONDO:0002350 True nephrotic syndrome 15 familial nephrotic syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0033280 MONDO:0002350 True nephrotic syndrome 16 familial nephrotic syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0033281 MONDO:0009889 True polycystic kidney disease 5 autosomal recessive polycystic kidney disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0033282 MONDO:0017338 True multiple mitochondrial dysfunctions syndrome 5 fatal multiple mitochondrial dysfunctions syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0033304 MONDO:0000428 True nonsyndromic deafness, Y-linked Y-linked disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0033304 MONDO:0019497 True nonsyndromic deafness, Y-linked nonsyndromic genetic hearing loss UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0033308 MONDO:0018772 True Joubert syndrome 30 Joubert syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0033309 MONDO:0018772 True Joubert syndrome 32 Joubert syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0033310 MONDO:0018772 True Joubert syndrome 31 Joubert syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0033311 MONDO:0018772 True Joubert syndrome 33 Joubert syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0033312 MONDO:0005090 True schizophrenia 19 schizophrenia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED +MONDO:0033361 MONDO:0100062 True developmental and epileptic encephalopathy, 52 developmental and epileptic encephalopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0033362 MONDO:0100062 True developmental and epileptic encephalopathy, 53 developmental and epileptic encephalopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0033363 MONDO:0100062 True developmental and epileptic encephalopathy, 54 developmental and epileptic encephalopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0033364 MONDO:0100062 True developmental and epileptic encephalopathy, 55 developmental and epileptic encephalopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0033365 MONDO:0100062 True developmental and epileptic encephalopathy, 56 developmental and epileptic encephalopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0033366 MONDO:0100062 True developmental and epileptic encephalopathy, 57 developmental and epileptic encephalopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0033367 MONDO:0100062 True developmental and epileptic encephalopathy, 58 developmental and epileptic encephalopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0033368 MONDO:0100062 True developmental and epileptic encephalopathy, 59 developmental and epileptic encephalopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0033369 MONDO:0100062 True developmental and epileptic encephalopathy, 60 developmental and epileptic encephalopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0033370 MONDO:0100062 True developmental and epileptic encephalopathy, 61 developmental and epileptic encephalopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0033371 MONDO:0100062 True developmental and epileptic encephalopathy, 62 developmental and epileptic encephalopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0033372 MONDO:0100062 True developmental and epileptic encephalopathy, 63 developmental and epileptic encephalopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0033373 MONDO:0100062 True developmental and epileptic encephalopathy, 64 developmental and epileptic encephalopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0033374 MONDO:0100062 True developmental and epileptic encephalopathy, 65 developmental and epileptic encephalopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0033375 MONDO:0015375 True orofaciodigital syndrome 17 orofaciodigital syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0033479 MONDO:0020380 True spinocerebellar ataxia 44 autosomal dominant cerebellar ataxia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0033480 MONDO:0019793 True spinocerebellar ataxia 45 autosomal dominant cerebellar ataxia type III UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0033481 MONDO:0019792 True spinocerebellar ataxia 46 autosomal dominant cerebellar ataxia type I UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0033482 MONDO:0020380 True spinocerebellar ataxia 47 autosomal dominant cerebellar ataxia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0033483 MONDO:0001115 True erythrocytosis, familial, 5 familial polycythemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0033485 MONDO:0018770 True short-rib thoracic dysplasia 19 with or without polydactyly Jeune syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0033486 MONDO:0019046 True leukodystrophy, hypomyelinating, 14 leukodystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0033492 MONDO:0015802 True Coffin-Siris syndrome 6 autosomal dominant non-syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0033493 MONDO:0016070 True fibromatosis, gingival, 5 hereditary gingival fibromatosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0033533 MONDO:0000732 True combined oxidative phosphorylation deficiency 45 combined oxidative phosphorylation deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0033534 MONDO:0000732 True combined oxidative phosphorylation deficiency 46 combined oxidative phosphorylation deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0033537 MONDO:0000732 True combined oxidative phosphorylation deficiency 47 combined oxidative phosphorylation deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED MONDO:0033541 MONDO:0021094 True immunodeficiency 69 immunodeficiency disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0033542 MONDO:0021094 True immunodeficiency 70 immunodeficiency disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0033545 MONDO:0018158 True mitochondrial DNA depletion syndrome 19 mitochondrial DNA depletion syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0033548 MONDO:0019952 True myopathy, congenital, with diaphragmatic defects, respiratory insufficiency, and dysmorphic facies congenital myopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED MONDO:0033549 MONDO:0043878 True optic atrophy 12 hereditary optic atrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0033551 MONDO:0021094 True immunodeficiency 72 with autoinflammation immunodeficiency disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0033556 MONDO:0000172 True muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type B, 15 muscular dystrophy-dystroglycanopathy, type B UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0033563 MONDO:0019200 True retinitis pigmentosa 90 retinitis pigmentosa UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0033556 MONDO:0000172 True muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type B, 15 muscular dystrophy-dystroglycanopathy, type B UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0033560 MONDO:0003847 True mitochondrial complex 1 deficiency, nuclear type 35 hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0033563 MONDO:0019200 True retinitis pigmentosa 90 retinitis pigmentosa UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED MONDO:0033564 MONDO:0014769 True oocyte maturation defect 8 inherited oocyte maturation defect UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0033565 MONDO:0014769 True oocyte maturation defect 9 inherited oocyte maturation defect UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0033566 MONDO:0000732 True combined oxidative phosphorylation deficiency 48 combined oxidative phosphorylation deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0033614 MONDO:0019064 True spastic paraplegia 83, autosomal recessive hereditary spastic paraplegia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0033615 MONDO:0018151 True coenzyme q10 deficiency, primary, 9 coenzyme Q10 deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0033620 MONDO:0018943 True myofibrillar myopathy 10 myofibrillar myopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0033622 MONDO:0004983 True spermatogenic failure 44 spermatogenic failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0033631 MONDO:0000732 True combined oxidative phosphorylation deficiency 51 combined oxidative phosphorylation deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0033566 MONDO:0000732 True combined oxidative phosphorylation deficiency 48 combined oxidative phosphorylation deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0033569 MONDO:0003847 True combined oxidative phosphorylation deficiency 49 hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0033570 MONDO:0003847 True combined oxidative phosphorylation deficiency 50 hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0033614 MONDO:0019064 True spastic paraplegia 83, autosomal recessive hereditary spastic paraplegia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0033615 MONDO:0018151 True coenzyme q10 deficiency, primary, 9 coenzyme Q10 deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0033620 MONDO:0018943 True myofibrillar myopathy 10 myofibrillar myopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0033622 MONDO:0004983 True spermatogenic failure 44 spermatogenic failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0033631 MONDO:0000732 True combined oxidative phosphorylation deficiency 51 combined oxidative phosphorylation deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED MONDO:0033635 MONDO:0033885 True mitochondrial complex 4 deficiency, nuclear type 3 mitochondrial complex IV deficiency, nuclear-type UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0033636 MONDO:0033885 True mitochondrial complex 4 deficiency, nuclear type 4 mitochondrial complex IV deficiency, nuclear-type UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0033637 MONDO:0033885 True mitochondrial complex 4 deficiency, nuclear type 7 mitochondrial complex IV deficiency, nuclear-type UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0033638 MONDO:0033885 True mitochondrial complex 4 deficiency, nuclear type 8 mitochondrial complex IV deficiency, nuclear-type UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0033639 MONDO:0033885 True mitochondrial complex 4 deficiency, nuclear type 10 mitochondrial complex IV deficiency, nuclear-type UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0033643 MONDO:0005265 True inflammatory bowel disease 30 inflammatory bowel disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0033643 MONDO:0005265 True inflammatory bowel disease 30 inflammatory bowel disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED MONDO:0033645 MONDO:0033885 True mitochondrial complex 4 deficiency, nuclear type 11 mitochondrial complex IV deficiency, nuclear-type UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0033646 MONDO:0033885 True mitochondrial complex 4 deficiency, nuclear type 12 mitochondrial complex IV deficiency, nuclear-type UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0033649 MONDO:0033885 True mitochondrial complex 4 deficiency, nuclear type 14 mitochondrial complex IV deficiency, nuclear-type UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING @@ -10082,37 +17634,143 @@ MONDO:0033653 MONDO:0033885 True mitochondrial complex 4 deficiency, nuclear typ MONDO:0033654 MONDO:0033885 True mitochondrial complex 4 deficiency, nuclear type 19 mitochondrial complex IV deficiency, nuclear-type UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0033655 MONDO:0033885 True mitochondrial complex 4 deficiency, nuclear type 20 mitochondrial complex IV deficiency, nuclear-type UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0033656 MONDO:0033885 True mitochondrial complex 4 deficiency, nuclear type 21 mitochondrial complex IV deficiency, nuclear-type UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0033657 MONDO:0019046 True leukodystrophy, hypomyelinating, 20 leukodystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0033665 MONDO:0019587 True hearing loss, autosomal dominant 78 autosomal dominant nonsyndromic hearing loss UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0033668 MONDO:0019587 True hearing loss, autosomal dominant 79 autosomal dominant nonsyndromic hearing loss UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0033669 MONDO:0018997 True Noonan syndrome 13 Noonan syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0033670 MONDO:0019588 True hearing loss, autosomal recessive 116 hearing loss, autosomal recessive UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0033671 MONDO:0004983 True spermatogenic failure 45 spermatogenic failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0033673 MONDO:0004983 True spermatogenic failure 46 spermatogenic failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0033946 MONDO:0019623 True hereditary angioedema with C1Inh deficiency hereditary angioedema UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0033954 MONDO:0002254 True monoclonal mast cell activation syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0033954 MONDO:0005046 True monoclonal mast cell activation syndrome immune system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0033657 MONDO:0019046 True leukodystrophy, hypomyelinating, 20 leukodystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0033665 MONDO:0019587 True hearing loss, autosomal dominant 78 autosomal dominant nonsyndromic hearing loss UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0033668 MONDO:0019587 True hearing loss, autosomal dominant 79 autosomal dominant nonsyndromic hearing loss UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0033669 MONDO:0018997 True Noonan syndrome 13 Noonan syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0033670 MONDO:0019588 True hearing loss, autosomal recessive 116 hearing loss, autosomal recessive UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0033671 MONDO:0004983 True spermatogenic failure 45 spermatogenic failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0033673 MONDO:0004983 True spermatogenic failure 46 spermatogenic failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0033682 MONDO:0015159 True skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0033682 MONDO:0015708 True skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome immuno-osseous dysplasia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0033682 MONDO:0019694 True skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome spondylodysplastic dysplasia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0033683 MONDO:0015159 True congenital progressive bone marrow failure-B-cell immunodeficiency-skeletal dysplasia syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0033683 MONDO:0015708 True congenital progressive bone marrow failure-B-cell immunodeficiency-skeletal dysplasia syndrome immuno-osseous dysplasia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0033683 MONDO:0018234 True congenital progressive bone marrow failure-B-cell immunodeficiency-skeletal dysplasia syndrome dysostosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0033683 MONDO:0019054 True congenital progressive bone marrow failure-B-cell immunodeficiency-skeletal dysplasia syndrome congenital limb malformation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0033683 MONDO:0019453 True congenital progressive bone marrow failure-B-cell immunodeficiency-skeletal dysplasia syndrome myelodysplastic syndrome with multilineage dysplasia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0033717 MONDO:0020043 True congenital cerebellar ataxia due to RNU12 mutation autosomal recessive congenital cerebellar ataxia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0033810 MONDO:0019503 True isolated iridoschisis anterior segment dysgenesis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0033821 MONDO:0023865 True fungal keratitis corneal infection UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0033838 MONDO:0015923 True radiation-induced plexopathy acquired peripheral neuropathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0033838 MONDO:0043459 True radiation-induced plexopathy radiation-induced disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0033850 MONDO:0017762 True autosomal recessive axonal charcot-marie-tooth disease due to copper metabolism defect disorder of copper metabolism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0033862 MONDO:0019787 True primary autoimmune enteropathy autoimmune enteropathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0033946 MONDO:0019623 True hereditary angioedema with C1Inh deficiency hereditary angioedema UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0033946 MONDO:0027749 True hereditary angioedema with C1Inh deficiency serpinopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0033948 MONDO:0019624 True acquired angioedema with C1Inh deficiency acquired angioedema UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0033954 MONDO:0005570 True monoclonal mast cell activation syndrome hematologic disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0033968 MONDO:0003778 True immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections-lymphopenia syndrome inborn error of immunity UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0033969 MONDO:0003778 True inflammatory bowel disease-recurrent sinopulmonary infections syndrome inborn error of immunity UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0033980 MONDO:0003266 True RELA fusion-positive ependymoma ependymal tumor UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0034021 MONDO:0020066 True spondylodysplastic Ehlers-Danlos syndrome Ehlers-Danlos syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0034022 MONDO:0008029 True Bethlem myopathy 2 Bethlem myopathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0034022 MONDO:0020066 True Bethlem myopathy 2 Ehlers-Danlos syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0034054 MONDO:0016537 True severe combined immunodeficiency due to CD70 deficiency lymphoproliferative syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0034106 MONDO:0100062 True developmental and epileptic encephalopathy, 73 developmental and epileptic encephalopathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0034022 MONDO:0020066 True Bethlem myopathy 2 Ehlers-Danlos syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0034054 MONDO:0016537 True severe combined immunodeficiency due to CD70 deficiency lymphoproliferative syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0034092 MONDO:0020127 True optic atrophy-ataxia-peripheral neuropathy-global developmental delay syndrome hereditary peripheral neuropathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0034099 MONDO:0020071 True SYNGAP1-related developmental and epileptic encephalopathy infantile epilepsy syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0034103 MONDO:0001549 True infection-related hemolytic uremic syndrome hemolytic-uremic syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0034106 MONDO:0015159 True developmental and epileptic encephalopathy, 73 multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0034106 MONDO:0100062 True developmental and epileptic encephalopathy, 73 developmental and epileptic encephalopathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0034109 MONDO:0006025 True congenital myopathy with reduced type 2 muscle fibers autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0034109 MONDO:0019952 True congenital myopathy with reduced type 2 muscle fibers congenital myopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED MONDO:0034121 MONDO:0014960 True NAD(P)HX dehydratase deficiency encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0035112 MONDO:0018874 True acute myeloid leukemia with BCR-ABL1 acute myeloid leukemia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0035121 MONDO:0015688 True myeloid/lymphoid neoplasm associated with JAK2 rearrangement myeloid/lymphoid neoplasms associated with eosinophilia and abnormality of PDGFRA, PDGFRB, FGFR1 or JAK2 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0034121 MONDO:0019052 True NAD(P)HX dehydratase deficiency inborn errors of metabolism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0034127 MONDO:0019337 True IgA pemphigus autoimmune bullous skin disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0034142 MONDO:0015159 True pancreatic agenesis-holoprosencephaly syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0034143 MONDO:0017198 True early-onset calcifying leukoencephalopathy-skeletal dysplasia osteopetrosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0034143 MONDO:0019046 True early-onset calcifying leukoencephalopathy-skeletal dysplasia leukodystrophy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0034145 MONDO:0005308 True oculocerebrodental syndrome ciliopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0034145 MONDO:0015159 True oculocerebrodental syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0034146 MONDO:0017847 True spastic ataxia-dysarthria due to glutaminase deficiency autosomal recessive spastic ataxia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0034186 MONDO:0019222 True autosomal recessive extra-oral halitosis inborn disorder of methionine cycle and sulfur amino acid metabolism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0034976 MONDO:0018686 True iatrogenic Creutzfeldt-Jakob disease acquired Creutzfeldt-Jakob disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0035004 MONDO:0018162 True serine biosynthesis pathway deficiency, infantile/juvenile form neurometabolic disorder due to serine deficiency UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0035112 MONDO:0018874 True acute myeloid leukemia with BCR-ABL1 acute myeloid leukemia UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0035117 MONDO:0015653 True PUM1-associated developmental disability-ataxia-seizure syndrome monogenic epilepsy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0035117 MONDO:0019792 True PUM1-associated developmental disability-ataxia-seizure syndrome autosomal dominant cerebellar ataxia type I UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0035121 MONDO:0015688 True myeloid/lymphoid neoplasm associated with JAK2 rearrangement myeloid/lymphoid neoplasms associated with eosinophilia and abnormality of PDGFRA, PDGFRB, FGFR1 or JAK2 UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0035124 MONDO:0019287 True linear hypopigmentation and craniofacial asymmetry with acral, ocular and brain anomalies ectodermal dysplasia syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0035124 MONDO:0019290 True linear hypopigmentation and craniofacial asymmetry with acral, ocular and brain anomalies hypopigmentation of the skin UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0035133 MONDO:0015159 True PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0035151 MONDO:0016915 True 17q24.2 microdeletion syndrome partial deletion of the long arm of chromosome 17 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0035153 MONDO:0005372 True male infertility due to acephalic spermatozoa male infertility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0035173 MONDO:0016874 True 9q21.13 microdeletion syndrome partial deletion of chromosome 9 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0035220 MONDO:0019623 True PLG-related hereditary angioedema with normal C1inh hereditary angioedema UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0035235 MONDO:0018824 True classic pyoderma gangrenosum pyoderma gangrenosum UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0035236 MONDO:0018824 True pustular pyoderma gangrenosum pyoderma gangrenosum UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0035237 MONDO:0018824 True bullous pyoderma gangrenosum pyoderma gangrenosum UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0035238 MONDO:0018824 True vegetative pyoderma gangrenosum pyoderma gangrenosum UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0035290 MONDO:0016244 True atypical hemolytic uremic syndrome with complement gene abnormality atypical hemolytic-uremic syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0035293 MONDO:0034103 True streptococcus pneumoniae-associated hemolytic uremic syndrome infection-related hemolytic uremic syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0035295 MONDO:0018960 True congenital primary megaureter, refluxing and obstructed form congenital primary megaureter UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0035320 MONDO:0018541 True early-onset familial hypoaldosteronism familial hypoaldosteronism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0035321 MONDO:0018541 True late-onset familial hypoaldosteronism familial hypoaldosteronism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0035349 MONDO:0006543 True localized dystrophic epidermolysis bullosa epidermolysis bullosa dystrophica UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0035400 MONDO:0016264 True seronegative autoimmune hepatitis autoimmune hepatitis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0035403 MONDO:0016092 True serous cystadenoma of childhood serous or mucinous cystadenoma of childhood UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0035404 MONDO:0016092 True mucinous cystadenoma of childhood serous or mucinous cystadenoma of childhood UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0035405 MONDO:0016092 True seromucinous cystadenoma of childhood serous or mucinous cystadenoma of childhood UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0035406 MONDO:0018941 True furuncular myiasis due to Dermatobia hominis furuncular myiasis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0035407 MONDO:0018941 True furuncular myiasis due to Cordylobia anthropophaga furuncular myiasis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0035408 MONDO:0018941 True furuncular myiasis due to Cordylobia rodhaini furuncular myiasis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0035410 MONDO:0013003 True isolated congenital aglossia isolated congenital hypoglossia/aglossia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0035411 MONDO:0013003 True isolated congenital hypoglossia isolated congenital hypoglossia/aglossia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0035423 MONDO:0015611 True triglyceride deposit cardiomyovasculopathy neutral lipid storage disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0035432 MONDO:0016971 True POMGNT2-related limb-girdle muscular dystrophy R24 limb-girdle muscular dystrophy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0035433 MONDO:0016971 True calpain-3-related limb-girdle muscular dystrophy D4 limb-girdle muscular dystrophy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0035437 MONDO:0019751 True CEBPE-associated autoinflammation-immunodeficiency-neutrophil dysfunction syndrome autoinflammatory syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0035444 MONDO:0007950 True acute mast cell leukemia mastocytosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0035445 MONDO:0007950 True chronic mast cell leukemia mastocytosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0035459 MONDO:0018170 True idiopathic multidrug-resistant nephrotic syndrome idiopathic nephrotic syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0035460 MONDO:0018170 True idiopathic steroid-resistant nephrotic syndrome with sensitivity to second-line immunosuppressive therapy idiopathic nephrotic syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0035472 MONDO:0019175 True GJC2-related late-onset primary lymphedema primary lymphedema UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0035473 MONDO:0019175 True warts-immunodeficiency-lymphedema-anogenital dysplasia syndrome primary lymphedema UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0035474 MONDO:0019175 True PIEZO1-related generalized lymphatic dysplasia with non-immune hydrops fetalis primary lymphedema UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0035475 MONDO:0019175 True EPHB4-related lymphatic-related hydrops fetalis primary lymphedema UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0035499 MONDO:0019175 True CELSR1-related late-onset primary lymphedema primary lymphedema UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0035521 MONDO:0016868 True blepharophimosis-ptosis-epicanthus inversus syndrome plus partial deletion of chromosome 3 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0035524 MONDO:0007201 True blepharophimosis-ptosis-epicanthus inversus syndrome type 1 blepharophimosis, ptosis, and epicanthus inversus syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0035525 MONDO:0007201 True blepharophimosis-ptosis-epicanthus inversus syndrome type 2 blepharophimosis, ptosis, and epicanthus inversus syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0035540 MONDO:0021227 True pheochromocytoma-paraganglioma adrenal gland neoplasm UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0035562 MONDO:0018926 True acquired human prion disease human prion disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0035605 MONDO:0003538 True B-lymphoblastic leukemia/lymphoma with recurrent genetic abnormality precursor lymphoblastic lymphoma/leukemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0035642 MONDO:0020743 True mixed phenotype acute leukemia with t(v;11q23.3) mixed phenotype acute leukemia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0035737 MONDO:0020586 True acquired factor V deficiency factor V deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0035737 MONDO:0020599 True acquired factor V deficiency acquired coagulation factor deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0035738 MONDO:0020599 True acquired factor VII deficiency acquired coagulation factor deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0035740 MONDO:0020587 True acquired factor XI deficiency factor XI deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0035940 MONDO:0035605 True B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) B-lymphoblastic leukemia/lymphoma with recurrent genetic abnormality UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0035941 MONDO:0035605 True B-lymphoblastic leukemia/lymphoma with t(v;11q23.3) B-lymphoblastic leukemia/lymphoma with recurrent genetic abnormality UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0035942 MONDO:0035605 True B-lymphoblastic leukemia/lymphoma with t(12;21)(p13.2;q22.1) B-lymphoblastic leukemia/lymphoma with recurrent genetic abnormality UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0035943 MONDO:0035605 True B-lymphoblastic leukemia/lymphoma with hyperdiploidy B-lymphoblastic leukemia/lymphoma with recurrent genetic abnormality UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0035944 MONDO:0035605 True B-lymphoblastic leukemia/lymphoma with hypodiploidy B-lymphoblastic leukemia/lymphoma with recurrent genetic abnormality UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0035945 MONDO:0035605 True B-lymphoblastic leukemia/lymphoma with t(5;14)(q31.1;q32.3) B-lymphoblastic leukemia/lymphoma with recurrent genetic abnormality UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0036482 MONDO:0019200 True retinitis pigmentosa 81 retinitis pigmentosa UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0036483 MONDO:0018770 True short-rib thoracic dysplasia 18 with polydactyly Jeune syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0035614 MONDO:0018926 True sporadic fatal insomnia human prion disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0035639 MONDO:0020743 True mixed phenotype acute leukemia with t(9;22)(q34.1;q11.2) mixed phenotype acute leukemia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0035642 MONDO:0020743 True mixed phenotype acute leukemia with t(v;11q23.3) mixed phenotype acute leukemia UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0035646 MONDO:0008056 True congenital-onset Steinert myotonic dystrophy myotonic dystrophy type 1 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0035647 MONDO:0016107 True childhood-onset Steinert myotonic dystrophy myotonic dystrophy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0035648 MONDO:0016107 True juvenile-onset Steinert myotonic dystrophy myotonic dystrophy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0035649 MONDO:0016107 True adult-onset Steinert myotonic dystrophy myotonic dystrophy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0035650 MONDO:0016107 True late-onset Steinert myotonic dystrophy myotonic dystrophy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0035663 MONDO:0019100 True neuromyelitis optica spectrum disorder with anti-AQP4 antibodies neuromyelitis optica UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0035664 MONDO:0019100 True neuromyelitis optica spectrum disorder with anti-MOG antibodies neuromyelitis optica UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0035665 MONDO:0019100 True neuromyelitis optica spectrum disorder without anti-MOG and without anti-AQP4 antibodies neuromyelitis optica UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0035666 MONDO:0015342 True acute transverse myelitis with anti-MOG antibodies acute transverse myelitis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0035667 MONDO:0044688 True isolated optic neuritis without anti-MOG antibodies isolated optic neuritis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0035668 MONDO:0044688 True isolated optic neuritis with anti-MOG antibodies isolated optic neuritis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0035669 MONDO:0019383 True acute disseminated encephalomyelitis with anti-MOG antibodies acute disseminated encephalomyelitis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0035670 MONDO:0019383 True acute disseminated encephalomyelitis without anti-MOG antibodies acute disseminated encephalomyelitis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0035694 MONDO:0015131 True combined immunodeficiency due to RELA haploinsufficiency combined immunodeficiency UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0035696 MONDO:0035357 True incomplete septal cirrhosis portosinusoidal vascular disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0035734 MONDO:0019623 True hereditary angioedema with normal C1inh not related to F12 or PLG variant hereditary angioedema UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0035782 MONDO:0019938 True non-syndromic anorectal malformation with rectourethral fistula, bulbar type anorectal malformation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0035783 MONDO:0019938 True non-syndromic anorectal malformation with rectourethral fistula, prostatic type anorectal malformation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0035838 MONDO:0015564 True idiopathic multicentric Castleman disease Castleman disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0035892 MONDO:0020129 True Mills syndrome acquired motor neuron disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0035930 MONDO:0000179 True neu-laxova syndrome due to 3-phosphoserine phosphatase deficiency Neu-Laxova syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0035940 MONDO:0035605 True B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) B-lymphoblastic leukemia/lymphoma with recurrent genetic abnormality UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0035941 MONDO:0035605 True B-lymphoblastic leukemia/lymphoma with t(v;11q23.3) B-lymphoblastic leukemia/lymphoma with recurrent genetic abnormality UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0035942 MONDO:0035605 True B-lymphoblastic leukemia/lymphoma with t(12;21)(p13.2;q22.1) B-lymphoblastic leukemia/lymphoma with recurrent genetic abnormality UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0035943 MONDO:0035605 True B-lymphoblastic leukemia/lymphoma with hyperdiploidy B-lymphoblastic leukemia/lymphoma with recurrent genetic abnormality UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0035944 MONDO:0035605 True B-lymphoblastic leukemia/lymphoma with hypodiploidy B-lymphoblastic leukemia/lymphoma with recurrent genetic abnormality UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0035945 MONDO:0035605 True B-lymphoblastic leukemia/lymphoma with t(5;14)(q31.1;q32.3) B-lymphoblastic leukemia/lymphoma with recurrent genetic abnormality UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0036042 MONDO:0015159 True KAT6B-related multiple congenital anomalies syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0036217 MONDO:0032931 True lethal pontocerebellar hypoplasia-hypotonia-respiratory insufficiency syndrome due to a point mutation pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome, neonatal lethal UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0036218 MONDO:0032931 True lethal pontocerebellar hypoplasia-hypotonia-respiratory insufficiency syndrome due to biallelic deletions in the ATAD3 gene cluster pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome, neonatal lethal UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0036482 MONDO:0019200 True retinitis pigmentosa 81 retinitis pigmentosa UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0036483 MONDO:0018770 True short-rib thoracic dysplasia 18 with polydactyly Jeune syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0036484 MONDO:0018778 True Charcot-Marie-Tooth disease, dominant intermediate G intermediate Charcot-Marie-Tooth disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0036501 MONDO:0004992 True refractory malignant neoplasm cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0036511 MONDO:0002367 True childhood malignant kidney neoplasm kidney cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0036511 MONDO:0002730 True childhood malignant kidney neoplasm childhood kidney neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -10130,6 +17788,7 @@ MONDO:0036870 MONDO:0024296 True lymphatic vessel neoplasm vascular neoplasm UNS MONDO:0036915 MONDO:0000646 True benign ovarian mucinous tumor ovarian benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0036915 MONDO:0003756 True benign ovarian mucinous tumor ovarian mucinous neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0036915 MONDO:0036976 True benign ovarian mucinous tumor benign epithelial neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0036918 MONDO:0019268 True punctate acrokeratoderma freckle-like pigmentation epidermal disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0036976 MONDO:0005165 True benign epithelial neoplasm benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0036976 MONDO:0005626 True benign epithelial neoplasm epithelial neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0036990 MONDO:0006266 True benign Leydig cell tumor Leydig cell tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -10139,6 +17798,7 @@ MONDO:0037003 MONDO:0005078 True malignant phyllodes tumor phyllodes tumor UNSUP MONDO:0037003 MONDO:0005853 True malignant phyllodes tumor malignant mixed neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0037105 MONDO:0018201 True lung germ cell tumor extragonadal germ cell tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0037105 MONDO:0021117 True lung germ cell tumor lung neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0037149 MONDO:0010327 True HSD10 disease, atypical type HSD10 mitochondrial disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0037250 MONDO:0021079 True childhood testicular neoplasm childhood neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0037250 MONDO:0021348 True childhood testicular neoplasm neoplasm of testis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0037252 MONDO:0006055 True thecoma sex cord-stromal tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -10162,12 +17822,10 @@ MONDO:0037743 MONDO:0024637 True mediastinal soft tissue cancer malignant soft t MONDO:0037745 MONDO:0006424 True fibromyxoid tumor soft tissue neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0037746 MONDO:0001402 True malignant vaginal mixed epithelial and mesenchymal neoplasm vaginal cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0037746 MONDO:0005853 True malignant vaginal mixed epithelial and mesenchymal neoplasm malignant mixed neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0037748 MONDO:0005066 True hyperlipoproteinemia metabolic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0037858 MONDO:0002525 True inherited fatty acid metabolism disorder inherited lipid metabolism disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0040500 MONDO:0019502 True glycosylphosphatidylinositol biosynthesis defect 16 autosomal recessive non-syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0040501 MONDO:0020066 True ehlers-danlos syndrome, arthrochalasia type, 2 Ehlers-Danlos syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0040500 MONDO:0019502 True glycosylphosphatidylinositol biosynthesis defect 16 autosomal recessive non-syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0040501 MONDO:0020066 True ehlers-danlos syndrome, arthrochalasia type, 2 Ehlers-Danlos syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED MONDO:0040502 MONDO:0008733 True glucocorticoid deficiency 5 familial glucocorticoid deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0040503 MONDO:0007339 True blepharocheilodontic syndrome 2 blepharocheilodontic syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0040503 MONDO:0007339 True blepharocheilodontic syndrome 2 blepharocheilodontic syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED MONDO:0040673 MONDO:0002087 True malignant peritoneal germ cell tumor peritoneum cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0040673 MONDO:0003113 True malignant peritoneal germ cell tumor extragonadal germ cell cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0040675 MONDO:0006209 True myofibroblastoma fibroblastic neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -10178,11 +17836,9 @@ MONDO:0040678 MONDO:0040677 True infiltrating urothelial carcinoma invasive carc MONDO:0040679 MONDO:0006295 True urothelial carcinoma malignant urinary system neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0040679 MONDO:0006474 True urothelial carcinoma transitional cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0040679 MONDO:0024337 True urothelial carcinoma urothelial neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0040923 MONDO:0005822 True late latent syphilis latent syphilis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0041447 MONDO:0024880 True metastatic malignant neoplasm in the colon metastatic malignant neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0042233 MONDO:0002026 True disseminated candidiasis candidiasis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0042485 MONDO:0005578 True infective arthritis arthritic joint disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0042486 MONDO:0011023 True polyposis syndrome, hereditary mixed, 1 hereditary mixed polyposis syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0042486 MONDO:0011023 True polyposis syndrome, hereditary mixed, 1 hereditary mixed polyposis syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0042487 MONDO:0004710 True uterine cervix carcinoma in situ uterus carcinoma in situ UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0042487 MONDO:0005131 True uterine cervix carcinoma in situ cervical carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0042491 MONDO:0021230 True cervical squamous intraepithelial neoplasia uterine cervix neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0042491 MONDO:0022394 True cervical squamous intraepithelial neoplasia cervical intraepithelial neoplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -10191,131 +17847,133 @@ MONDO:0042493 MONDO:0001059 True gastric non-hodgkin lymphoma gastric lymphoma U MONDO:0042493 MONDO:0018908 True gastric non-hodgkin lymphoma non-Hodgkin lymphoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0042494 MONDO:0005105 True childhood malignant melanoma melanoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0042494 MONDO:0006517 True childhood malignant melanoma childhood malignant neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0042499 MONDO:0017615 True benign familial neonatal-infantile seizures 1 benign familial infantile epilepsy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0042499 MONDO:0017615 True benign familial neonatal-infantile seizures 1 benign familial infantile epilepsy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED MONDO:0042727 MONDO:0002601 True sacrococcygeal teratoma teratoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0042976 MONDO:0024298 True vitamin B deficiency vitamin deficiency disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0042982 MONDO:0021094 True GATA2 deficiency with susceptibility to MDS/AML immunodeficiency disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0043103 MONDO:0018612 True hypothyroidism due to iodide transport defect congenital hypothyroidism UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0043218 MONDO:0005071 True neurovascular disorder nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0043224 MONDO:0004648 True multi-infarct dementia vascular dementia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0043240 MONDO:0005578 True hemophilic arthropathy arthritic joint disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0043243 MONDO:0021074 True leukoplakia precancerous condition UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0043247 MONDO:0002254 True Mallory-Weiss syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0043251 MONDO:0006499 True odontoma hamartoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0043251 MONDO:0006858 True odontoma mouth disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0043287 MONDO:0002254 True superior vena cava syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0043294 MONDO:0019562 True linear scleroderma localized scleroderma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0043300 MONDO:0002102 True actinic cheilitis cheilitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0043303 MONDO:0021205 True hyperacusis disorder of ear UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0043303 MONDO:0024422 True hyperacusis auditory perceptual disorders UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0043320 MONDO:0002254 True piriformis syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0043355 MONDO:0004966 True collagenous gastritis gastritis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0043370 MONDO:0000004 True secondary adrenal insufficiency adrenocortical insufficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0043424 MONDO:0004335 True digestive system infectious disorder digestive system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0043424 MONDO:0005550 True digestive system infectious disorder infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0043455 MONDO:0001566 True humoral hypercalcemia of malignancy hypercalcemia disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0043465 MONDO:0004298 True achlorhydria stomach disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0043468 MONDO:0005348 True acne keloid keloid UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0043472 MONDO:0021058 True ectopic ACTH secretion syndrome neoplastic syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0043475 MONDO:0002254 True Adams-Stokes syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0043494 MONDO:0000473 True arteritis arterial disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0043494 MONDO:0018882 True arteritis vasculitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0043512 MONDO:0005560 True traumatic encephalopathy brain disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0043519 MONDO:0021178 True burn injury UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0043537 MONDO:0015530 True cluster headache syndrome trigeminal autonomic cephalalgia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0043541 MONDO:0003799 True viral conjunctivitis conjunctivitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0043544 MONDO:0005550 True nosocomial infection infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0043576 MONDO:0043494 True endarteritis arteritis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0043683 MONDO:0002254 True Leriche syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0043693 MONDO:0005154 True alcoholic liver diseases liver disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0043726 MONDO:0002254 True multiple organ dysfunction syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0043735 MONDO:0005380 True osteoradionecrosis osteonecrosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0043759 MONDO:0000755 True abdominal ectopic pregnancy ectopic pregnancy UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0043762 MONDO:0000755 True tubal pregnancy ectopic pregnancy UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0043765 MONDO:0005365 True presbycusis hearing loss disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0043771 MONDO:0002406 True radiodermatitis dermatitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0043771 MONDO:0043459 True radiodermatitis radiation-induced disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0043789 MONDO:0002459 True serum sickness type IV hypersensitivity disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0043862 MONDO:0004382 True voice disorders laryngeal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0043875 MONDO:0021058 True tumor lysis syndrome neoplastic syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0043885 MONDO:0005328 True eye infectious disorder eye disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0043885 MONDO:0005550 True eye infectious disorder infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0043892 MONDO:0005550 True prosthesis-related infectious disease infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0043905 MONDO:0005275 True pneumonitis lung disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0043923 MONDO:0006572 True lichen planus, oral lichen planus UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0043994 MONDO:0002155 True acute cholecystitis cholecystitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0044001 MONDO:0005365 True hearing loss, mixed conductive-sensorineural hearing loss disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0044033 MONDO:0002254 True posterior leukoencephalopathy syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0044067 MONDO:0002026 True candidiasis, invasive candidiasis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0044079 MONDO:0002254 True cardio-renal syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0044092 MONDO:0005020 True collagenous sprue intestinal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0044098 MONDO:0000755 True ovarian ectopic pregnancy ectopic pregnancy UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0044101 MONDO:0000755 True pregnancy, cornual ectopic pregnancy UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0044113 MONDO:0007915 True bullous systemic lupus erythematosus systemic lupus erythematosus UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0044137 MONDO:0005328 True vitreous body disorder eye disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0044138 MONDO:0044137 True hyalitis vitreous body disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0042981 MONDO:0003803 True aortic valve stenosis aortic valve disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0043143 MONDO:0015168 True microphthalmia microtia fetal akinesia arthrogryposis multiplex congenita UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0043143 MONDO:0016073 True microphthalmia microtia fetal akinesia syndromic microphthalmia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0043143 MONDO:0043009 True microphthalmia microtia fetal akinesia hereditary lethal multiple congenital anomalies/dysmorphic syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0043317 MONDO:0016367 True amyopathic dermatomyositis dermatomyositis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0044200 MONDO:0015974 True T-B+ severe combined immunodeficiency severe combined immunodeficiency UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0044201 MONDO:0015974 True T+ B+ severe combined immunodeficiency severe combined immunodeficiency UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0044202 MONDO:0015427 True episodic kinesigenic dyskinesia paroxysmal dyskinesia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0044204 MONDO:0009833 True Shwachman-Diamond syndrome 1 Shwachman-Diamond syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0044205 MONDO:0009833 True Shwachman-Diamond syndrome 2 Shwachman-Diamond syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0044206 MONDO:0008975 True otospondylomegaepiphyseal dysplasia, autosomal recessive otospondylomegaepiphyseal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0044207 MONDO:0009506 True specific granule deficiency 1 specific granule deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0044208 MONDO:0009506 True specific granule deficiency 2 specific granule deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0044211 MONDO:0005492 True idiopathic urticaria urticaria SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0044299 MONDO:0018940 True myasthenic syndrome, congenital, 22 congenital myasthenic syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0044300 MONDO:0021055 True familial adenomatous polyposis 4 classic familial adenomatous polyposis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0044305 MONDO:0019287 True ectodermal dysplasia 13, hair/tooth type ectodermal dysplasia syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0044308 MONDO:0015229 True bardet-biedl syndrome 21 Bardet-Biedl syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0044309 MONDO:0015253 True Diamond-Blackfan anemia 16 Diamond-Blackfan anemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0044310 MONDO:0015253 True Diamond-Blackfan anemia 17 Diamond-Blackfan anemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0044313 MONDO:0019502 True intellectual disability, autosomal recessive 60 autosomal recessive non-syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0044299 MONDO:0018940 True myasthenic syndrome, congenital, 22 congenital myasthenic syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0044300 MONDO:0016362 True familial adenomatous polyposis 4 attenuated familial adenomatous polyposis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0044300 MONDO:0021055 True familial adenomatous polyposis 4 classic familial adenomatous polyposis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0044302 MONDO:0003847 True congenital heart defects, dysmorphic facial features, and intellectual developmental disorder hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0044305 MONDO:0019287 True ectodermal dysplasia 13, hair/tooth type ectodermal dysplasia syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0044306 MONDO:0015653 True neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination monogenic epilepsy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0044308 MONDO:0015229 True bardet-biedl syndrome 21 Bardet-Biedl syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0044309 MONDO:0015253 True Diamond-Blackfan anemia 16 Diamond-Blackfan anemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0044310 MONDO:0015253 True Diamond-Blackfan anemia 17 Diamond-Blackfan anemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0044311 MONDO:0003847 True brachycephaly, trichomegaly, and developmental delay hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0044313 MONDO:0019502 True intellectual disability, autosomal recessive 60 autosomal recessive non-syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED MONDO:0044314 MONDO:0019200 True retinitis pigmentosa 78 retinitis pigmentosa UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0044317 MONDO:0019852 True premature ovarian failure 13 inherited primary ovarian failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0044319 MONDO:0015159 True intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0044319 MONDO:0015653 True intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies monogenic epilepsy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0044320 MONDO:0019200 True retinitis pigmentosa 79 retinitis pigmentosa UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0044325 MONDO:0019391 True Fanconi anemia, complementation group W Fanconi anemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0044327 MONDO:0000447 True polycystic liver disease 4 with or without kidney cysts autosomal dominant polycystic liver disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0044328 MONDO:0018770 True short-rib thoracic dysplasia 20 with polydactyly Jeune syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0044330 MONDO:0021022 True hyperekplexia 4 hereditary hyperekplexia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0044333 MONDO:0010198 True alcohol-induced Wernicke-Korsakoff's syndrome Wernicke-Korsakoff syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0044330 MONDO:0021022 True hyperekplexia 4 hereditary hyperekplexia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0044332 MONDO:0015548 True childhood-onset benign chorea with striatal involvement Huntington disease-like syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0044334 MONDO:0005070 True connective and soft tissue neoplasm neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0044335 MONDO:0000654 True benign soft tissue neoplasm benign connective and soft tissue neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0044335 MONDO:0006424 True benign soft tissue neoplasm soft tissue neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0044336 MONDO:0005008 True colorectal signet ring cell carcinoma colorectal adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0044336 MONDO:0005092 True colorectal signet ring cell carcinoma signet ring cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0044337 MONDO:0018078 True stromal sarcoma soft tissue sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0044339 MONDO:0011385 True lumbar disk degenerative disorder intervertebral disk degenerative disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0044342 MONDO:0011385 True thoracic disk degenerative disorder intervertebral disk degenerative disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0044343 MONDO:0011385 True cervical disk degenerative disorder intervertebral disk degenerative disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0044344 MONDO:0015254 True Schistosoma japonicum infectious disease schistosomiasis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0044345 MONDO:0015254 True Schistosoma mansoni infectious disease schistosomiasis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0044351 MONDO:0015254 True Schistosoma intercalatum infectious disease schistosomiasis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0044406 MONDO:0019287 True arthrogryposis-ectodermal dysplasia-other anomalies syndrome ectodermal dysplasia syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0044406 MONDO:0019942 True arthrogryposis-ectodermal dysplasia-other anomalies syndrome distal arthrogryposis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0044619 MONDO:0016677 True propylthiouracil embryofetopathy toxic or drug-related embryofetopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0044621 MONDO:0015159 True 16p12.1p12.3 triplication syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0044621 MONDO:0016949 True 16p12.1p12.3 triplication syndrome partial duplication of the short arm of chromosome 16 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0044622 MONDO:0020127 True EMILIN-1-related connective tissue disease hereditary peripheral neuropathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0044625 MONDO:0018993 True autosomal dominant charcot-marie-tooth disease type 2 due to DGAT2 mutation Charcot-Marie-Tooth disease type 2 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0044628 MONDO:0016643 True six2-related frontonasal dysplasia frontonasal dysplasia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0044629 MONDO:0015225 True congenital amyoplasia arthrogryposis syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0044633 MONDO:0002429 True idiopathic pleuroparenchymal fibroelastosis idiopathic interstitial pneumonia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0044634 MONDO:0002254 True retinitis pigmentosa-hearing loss-premature aging-short stature-facial dysmorphism syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0044634 MONDO:0003847 True retinitis pigmentosa-hearing loss-premature aging-short stature-facial dysmorphism syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0044635 MONDO:0018795 True DIAPH1-related sensorineural hearing loss-thrombocytopenia syndrome syndromic constitutional thrombocytopenia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0044637 MONDO:0015990 True infantile-onset generalized dyskinesia with orofacial involvement focal, segmental or multifocal dystonia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0044638 MONDO:0000536 True hypopharynx squamous cell carcinoma pharyngeal squamous cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0044638 MONDO:0005216 True hypopharynx squamous cell carcinoma hypopharyngeal carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0044641 MONDO:0015159 True 9q33.3q34.11 microdeletion syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0044641 MONDO:0016908 True 9q33.3q34.11 microdeletion syndrome partial monosomy of the long arm of chromosome 9 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0044642 MONDO:0019046 True c11orf73-related autosomal recessive hypomyelinating leukodystrophy leukodystrophy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0044643 MONDO:0015159 True congenital labioscrotal agenesis-cerebellar malformation-corneal dystrophy-facial dysmorphism syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0044643 MONDO:0020022 True congenital labioscrotal agenesis-cerebellar malformation-corneal dystrophy-facial dysmorphism syndrome central nervous system malformation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0044645 MONDO:0018881 True familial monosomy 7 syndrome myelodysplastic syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0044646 MONDO:0015159 True early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0044646 MONDO:0024237 True early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome inherited neurodegenerative disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0044647 MONDO:0018943 True kyphosis-lateral tongue atrophy-myofibrillar myopathy syndrome myofibrillar myopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0044648 MONDO:0015150 True kyphoscoliosis-lateral tongue atrophy-hereditary spastic paraplegia syndrome complex hereditary spastic paraplegia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0044649 MONDO:0018234 True omphalocele-diaphragmatic hernia-cardiovascular anomalies-radial ray defect syndrome dysostosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0044649 MONDO:0019054 True omphalocele-diaphragmatic hernia-cardiovascular anomalies-radial ray defect syndrome congenital limb malformation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0044651 MONDO:0015363 True early-onset progressive encephalopathy-spastic ataxia-distal spinal muscular atrophy syndrome neuronopathy, distal hereditary motor, autosomal recessive UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0044651 MONDO:0018307 True early-onset progressive encephalopathy-spastic ataxia-distal spinal muscular atrophy syndrome neurodegeneration with brain iron accumulation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0044651 MONDO:0020046 True early-onset progressive encephalopathy-spastic ataxia-distal spinal muscular atrophy syndrome autosomal recessive degenerative and progressive cerebellar ataxia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0044656 MONDO:0017266 True epidermolytic nevus keratinopathic ichthyosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0044657 MONDO:0018993 True MME-related autosomal dominant Charcot Marie Tooth disease type 2 Charcot-Marie-Tooth disease type 2 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0044663 MONDO:0019268 True aquagenic palmoplantar keratoderma epidermal disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0044675 MONDO:0018230 True LRP5-related primary osteoporosis skeletal dysplasia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0044682 MONDO:0015168 True MYBPC1-related autosomal recessive non-lethal arthrogryposis multiplex congenita syndrome arthrogryposis multiplex congenita UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0044687 MONDO:0044685 True chronic relapsing inflammatory optic neuropathy autoimmune/inflammatory optic neuropathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0044688 MONDO:0044685 True isolated optic neuritis autoimmune/inflammatory optic neuropathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0044689 MONDO:0044685 True recurrent idiopathic neuroretinitis autoimmune/inflammatory optic neuropathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0044690 MONDO:0044685 True optic perineuritis autoimmune/inflammatory optic neuropathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0044696 MONDO:0015159 True early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0044699 MONDO:0015159 True SIN3A-related intellectual disability syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0044700 MONDO:0044699 True SIN3A-related intellectual disability syndrome due to a point mutation SIN3A-related intellectual disability syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0044702 MONDO:0018751 True X-linked external auditory canal atresia-dilated internal auditory canal-facial dysmorphism syndrome hereditary otorhinolaryngologic disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0044702 MONDO:0019755 True X-linked external auditory canal atresia-dilated internal auditory canal-facial dysmorphism syndrome developmental defect during embryogenesis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0044702 MONDO:0020768 True X-linked external auditory canal atresia-dilated internal auditory canal-facial dysmorphism syndrome X-linked deafness UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0044704 MONDO:0000536 True oropharynx squamous cell carcinoma pharyngeal squamous cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0044704 MONDO:0044926 True oropharynx squamous cell carcinoma oropharyngeal carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0044705 MONDO:0000380 True paranasal sinus squamous cell carcinoma paranasal sinus carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0044705 MONDO:0010150 True paranasal sinus squamous cell carcinoma head and neck squamous cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0044709 MONDO:0015604 True cochleovestibular dysplasia middle ear anomaly UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0044710 MONDO:0010150 True lip and oral cavity squamous cell carcinoma head and neck squamous cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0044710 MONDO:0023644 True lip and oral cavity squamous cell carcinoma lip and oral cavity carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0044710 MONDO:0024623 True lip and oral cavity squamous cell carcinoma otorhinolaryngologic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0044723 MONDO:0017359 True 3-methylglutaconic aciduria type 8 3-methylglutaconic aciduria UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0044724 MONDO:0017359 True 3-methylglutaconic aciduria type 9 3-methylglutaconic aciduria UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0044714 MONDO:0009637 True mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome inborn mitochondrial myopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0044717 MONDO:0016903 True 4q25 proximal deletion syndrome partial deletion of the long arm of chromosome 4 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0044718 MONDO:0019046 True alkaline ceramidase 3 deficiency leukodystrophy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0044719 MONDO:0017396 True erythema multiforme major toxic dermatosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0044720 MONDO:0020047 True cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome autosomal recessive syndromic cerebellar ataxia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0044721 MONDO:0044200 True severe combined immunodeficiency due to LAT deficiency T-B+ severe combined immunodeficiency UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0044723 MONDO:0017359 True 3-methylglutaconic aciduria type 8 3-methylglutaconic aciduria UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0044724 MONDO:0017359 True 3-methylglutaconic aciduria type 9 3-methylglutaconic aciduria UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED MONDO:0044725 MONDO:0021094 True combined immunodeficiency due to GINS1 deficiency immunodeficiency disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0044726 MONDO:0015962 True psychomotor regression-oculomotor apraxia-movement disorder-nephropathy syndrome inherited renal tubular disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0044726 MONDO:0017764 True psychomotor regression-oculomotor apraxia-movement disorder-nephropathy syndrome disorder of zinc metabolism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0044726 MONDO:0024237 True psychomotor regression-oculomotor apraxia-movement disorder-nephropathy syndrome inherited neurodegenerative disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0044727 MONDO:0005192 True pancreatic carcinoma with mixed differentiation exocrine pancreatic carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0044727 MONDO:0006182 True pancreatic carcinoma with mixed differentiation digestive system mixed adenoneuroendocrine carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0044737 MONDO:0015150 True autosomal recessive complex spastic paraplegia due to kennedy pathway dysfunction complex hereditary spastic paraplegia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0044737 MONDO:0018117 True autosomal recessive complex spastic paraplegia due to kennedy pathway dysfunction disorder of phospholipids, sphingolipids and fatty acids biosynthesis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0044738 MONDO:0015159 True Gabriele de Vries syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0044739 MONDO:0019810 True Stevens-Johnson syndrome/toxic epidermal necrolysis overlap syndrome toxic epidermal necrolysis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0044740 MONDO:0000521 True salivary gland squamous cell carcinoma salivary gland carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0044740 MONDO:0017167 True salivary gland squamous cell carcinoma malignant epithelial tumor of salivary glands UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0044743 MONDO:0004669 True major salivary gland cancer salivary gland cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0044743 MONDO:0021368 True major salivary gland cancer neoplasm of major salivary gland UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0044753 MONDO:0005965 True lumbar spinal stenosis spinal stenosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0044764 MONDO:0016717 True benign choroid plexus neoplasm choroid plexus neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0044764 MONDO:0021451 True benign choroid plexus neoplasm benign neoplasm of brain UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0044765 MONDO:0005377 True steroid-resistant nephrotic syndrome nephrotic syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0044767 MONDO:0004974 True childhood adrenal gland pheochromocytoma adrenal gland pheochromocytoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0044767 MONDO:0004974 True childhood adrenal gland pheochromocytoma adrenal gland pheochromocytoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0044767 MONDO:0021079 True childhood adrenal gland pheochromocytoma childhood neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0044768 MONDO:0001608 True vagus nerve paraganglioma vagus nerve neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0044768 MONDO:0006239 True vagus nerve paraganglioma head and neck paraganglioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0044776 MONDO:0019852 True premature ovarian failure 10 inherited primary ovarian failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0044777 MONDO:0019852 True premature ovarian failure 14 inherited primary ovarian failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0044778 MONDO:0004952 True nodular lymphocyte predominant Hodgkin lymphoma Hodgkins lymphoma UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0044782 MONDO:0003749 True esophageal ulcer esophageal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0044778 MONDO:0004952 True nodular lymphocyte predominant Hodgkin lymphoma Hodgkins lymphoma UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0044783 MONDO:0003532 True solid papillary breast carcinoma breast papillary carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0044784 MONDO:0044335 True myxoma benign soft tissue neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0044785 MONDO:0005012 True desmoplastic melanoma cutaneous melanoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -10333,16 +17991,8 @@ MONDO:0044796 MONDO:0044793 True spindle cell nevus spitz nevus UNSUPPORTED-MISS MONDO:0044797 MONDO:0044794 True desmoplastic nevus benign melanocytic skin nevus UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0044800 MONDO:0044793 True desmoplastic spitz nevus spitz nevus UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0044800 MONDO:0044797 True desmoplastic spitz nevus desmoplastic nevus UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0044807 MONDO:0003441 True inherited dystonia dystonic disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0044811 MONDO:0003441 True idiopathic torsion dystonia dystonic disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0044816 MONDO:0044807 True familial idiopathic torsion dystonia inherited dystonia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0044816 MONDO:0044811 True familial idiopathic torsion dystonia idiopathic torsion dystonia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0044817 MONDO:0044811 True acquired idiopathic torsion dystonia idiopathic torsion dystonia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0044873 MONDO:0018881 True childhood myelodysplastic syndrome myelodysplastic syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0044874 MONDO:0044873 True refractory cytopenia of childhood childhood myelodysplastic syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0044875 MONDO:0005267 True coronary microvascular disorder heart disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0044876 MONDO:0002254 True drug hypersensitivity syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0044877 MONDO:0022687 True paraneoplastic cerebellar degeneration cerebellar degeneration UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0044877 MONDO:0018215 True paraneoplastic cerebellar degeneration paraneoplastic neurologic syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0044878 MONDO:0005040 True adult germ cell tumor germ cell tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0044879 MONDO:0024338 True pancreatic mucinous-cystic neoplasm mucinous neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0044881 MONDO:0002334 True hematopoietic and lymphoid cell neoplasm hematopoietic and lymphoid system neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -10369,9 +18019,7 @@ MONDO:0044917 MONDO:0003537 True T-lymphoblastic lymphoma precursor T-lymphoblas MONDO:0044917 MONDO:0015760 True T-lymphoblastic lymphoma T-cell non-Hodgkin lymphoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0044919 MONDO:0002367 True malignant renal pelvis neoplasm kidney cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0044919 MONDO:0003719 True malignant renal pelvis neoplasm renal pelvis neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0044921 MONDO:0016537 True atypical lymphoproliferative disorder lymphoproliferative syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0044921 MONDO:0060782 True atypical lymphoproliferative disorder premalignant hematological system disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0044923 MONDO:0018874 True acute myeloid leukemia with mutated NPM1 acute myeloid leukemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0044923 MONDO:0018874 True acute myeloid leukemia with mutated NPM1 acute myeloid leukemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0044925 MONDO:0005515 True oral cavity carcinoma oral cavity cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0044925 MONDO:0023644 True oral cavity carcinoma lip and oral cavity carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0044926 MONDO:0002038 True oropharyngeal carcinoma head and neck carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -10385,15 +18033,12 @@ MONDO:0044964 MONDO:0003036 True oral cavity mucoepidermoid carcinoma mucoepider MONDO:0044964 MONDO:0044925 True oral cavity mucoepidermoid carcinoma oral cavity carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0044983 MONDO:0000654 True benign lipomatous neoplasm benign connective and soft tissue neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0044983 MONDO:0021354 True benign lipomatous neoplasm tumor of adipose tissue UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0045048 MONDO:0024664 True toxemia of pregnancy hypertension, pregnancy-induced UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0045050 MONDO:0005129 True nuclear cataract cataract UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0045051 MONDO:0005129 True cortical cataract cataract UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0045052 MONDO:0000654 True benign osteogenic neoplasm benign connective and soft tissue neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0045052 MONDO:0045053 True benign osteogenic neoplasm osteogenic neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0045053 MONDO:0002616 True osteogenic neoplasm mesenchymal cell neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0045055 MONDO:0004993 True glycogen-rich carcinoma carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0045055 MONDO:0004993 True glycogen-rich carcinoma carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0045056 MONDO:0016642 True grade II meningioma meningioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0045057 MONDO:0002039 True delirium cognitive disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0045059 MONDO:0004989 True cribriform carcinoma of breast breast carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0045060 MONDO:0005023 True intraductal cribriform breast adenocarcinoma ductal breast carcinoma in situ UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0045063 MONDO:0003175 True major salivary gland adenoid cystic carcinoma salivary gland adenoid cystic carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0045063 MONDO:0006284 True major salivary gland adenoid cystic carcinoma major salivary gland carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -10403,61 +18048,62 @@ MONDO:0045069 MONDO:0021316 True minor salivary gland carcinoma malignant tumor MONDO:0045070 MONDO:0002516 True digestive system melanoma digestive system cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0045070 MONDO:0006320 True digestive system melanoma non-cutaneous melanoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0045071 MONDO:0000607 True mycosis fungoides variant primary cutaneous T-cell non-Hodgkin lymphoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0045072 MONDO:0021058 True ectopic hormone secretion syndrome associated with neoplasia neoplastic syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0049221 MONDO:0001384 True myopia 26, X-linked, female-limited myopia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0049222 MONDO:0019181 True intellectual disability, X-linked 107 non-syndromic X-linked intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0049222 MONDO:0019181 True intellectual disability, X-linked 107 non-syndromic X-linked intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED MONDO:0054550 MONDO:0012126 True avascular necrosis of femoral head, primary, 1 familial avascular necrosis of femoral head UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0054551 MONDO:0012126 True avascular necrosis of femoral head, primary, 2 familial avascular necrosis of femoral head UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0054559 MONDO:0005501 True congenital disorder of glycosylation, type IIq congenital disorder of glycosylation type II UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0054559 MONDO:0005501 True congenital disorder of glycosylation, type IIq congenital disorder of glycosylation type II UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0054559 MONDO:0017750 True congenital disorder of glycosylation, type IIq defect in conserved oligomeric Golgi complex UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0054560 MONDO:0011773 True anauxetic dysplasia 1 anauxetic dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0054561 MONDO:0011773 True anauxetic dysplasia 2 anauxetic dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0054561 MONDO:0011773 True anauxetic dysplasia 2 anauxetic dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED MONDO:0054565 MONDO:0018770 True short-rib thoracic dysplasia 17 with or without polydactyly Jeune syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0054577 MONDO:0000009 True bleeding disorder, platelet-type, 21 inherited bleeding disorder, platelet-type UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0054581 MONDO:0007142 True Townes-Brocks syndrome 1 Townes-Brocks syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0054582 MONDO:0007142 True Townes-Brocks syndrome 2 Townes-Brocks syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0054588 MONDO:0011899 True Noonan syndrome-like disorder with loose anagen hair 2 Noonan syndrome-like disorder with loose anagen hair UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0054588 MONDO:0011899 True Noonan syndrome-like disorder with loose anagen hair 2 Noonan syndrome-like disorder with loose anagen hair UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED MONDO:0054601 MONDO:0017824 True pituitary adenoma 5, multiple types familial isolated pituitary adenoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0054602 MONDO:0011810 True gaze palsy, familial horizontal, with progressive scoliosis, 2 horizontal gaze palsy with progressive scoliosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0054615 MONDO:0004983 True spermatogenic failure 18 spermatogenic failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0054637 MONDO:0011899 True Noonan syndrome-like disorder with loose anagen hair 1 Noonan syndrome-like disorder with loose anagen hair UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0054654 MONDO:0000732 True combined oxidative phosphorylation deficiency 32 combined oxidative phosphorylation deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0054615 MONDO:0004983 True spermatogenic failure 18 spermatogenic failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0054636 MONDO:0015159 True Skraban-Deardorff syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0054637 MONDO:0011899 True Noonan syndrome-like disorder with loose anagen hair 1 Noonan syndrome-like disorder with loose anagen hair UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0054654 MONDO:0000732 True combined oxidative phosphorylation deficiency 32 combined oxidative phosphorylation deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED MONDO:0054665 MONDO:0017824 True pituitary adenoma 3, multiple types familial isolated pituitary adenoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0054666 MONDO:0009299 True ovarian dysgenesis 5 46 XX gonadal dysgenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0054669 MONDO:0020135 True pontocerebellar hypoplasia, type 11 pontocerebellar hypoplasia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0054677 MONDO:0000732 True combined oxidative phosphorylation deficiency 33 combined oxidative phosphorylation deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0054680 MONDO:0016648 True epiphyseal dysplasia, multiple, 7 multiple epiphyseal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0054691 MONDO:0015517 True immunodeficiency, common variable, 14 common variable immunodeficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0054695 MONDO:0018947 True myopathy, centronuclear, 6, with fiber-type disproportion centronuclear myopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0054666 MONDO:0009299 True ovarian dysgenesis 5 46 XX gonadal dysgenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0054669 MONDO:0020135 True pontocerebellar hypoplasia, type 11 pontocerebellar hypoplasia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0054677 MONDO:0000732 True combined oxidative phosphorylation deficiency 33 combined oxidative phosphorylation deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0054680 MONDO:0016648 True epiphyseal dysplasia, multiple, 7 multiple epiphyseal dysplasia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0054691 MONDO:0015517 True immunodeficiency, common variable, 14 common variable immunodeficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0054695 MONDO:0018947 True myopathy, centronuclear, 6, with fiber-type disproportion centronuclear myopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED MONDO:0054696 MONDO:0021094 True immunodeficiency 53 immunodeficiency disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0054697 MONDO:0021094 True immunodeficiency 11b with atopic dermatitis immunodeficiency disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0054697 MONDO:0021094 True immunodeficiency 11b with atopic dermatitis immunodeficiency disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0054698 MONDO:0009726 True proteasome-associated autoinflammatory syndrome 1 proteosome-associated autoinflammatory syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0054699 MONDO:0009726 True proteasome-associated autoinflammatory syndrome 3 proteosome-associated autoinflammatory syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0054700 MONDO:0009726 True proteasome-associated autoinflammatory syndrome 2 proteosome-associated autoinflammatory syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0054701 MONDO:0012455 True Kleefstra syndrome 2 Kleefstra syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0054701 MONDO:0012455 True Kleefstra syndrome 2 Kleefstra syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED MONDO:0054708 MONDO:0019200 True retinitis pigmentosa 80 retinitis pigmentosa UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0054716 MONDO:0016660 True microcephaly 19, primary, autosomal recessive autosomal recessive primary microcephaly UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0054722 MONDO:0000127 True geleophysic dysplasia 3 geleophysic dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0054723 MONDO:0004983 True spermatogenic failure 19 spermatogenic failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0054724 MONDO:0004983 True spermatogenic failure 20 spermatogenic failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0054725 MONDO:0004983 True spermatogenic failure 21 spermatogenic failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0054726 MONDO:0004983 True spermatogenic failure 22 spermatogenic failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0054727 MONDO:0004983 True spermatogenic failure 23 spermatogenic failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0054728 MONDO:0004983 True spermatogenic failure 24 spermatogenic failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0054729 MONDO:0004983 True spermatogenic failure 25 spermatogenic failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0054730 MONDO:0004983 True spermatogenic failure 26 spermatogenic failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0054731 MONDO:0004983 True spermatogenic failure 27 spermatogenic failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0054732 MONDO:0004983 True spermatogenic failure 28 spermatogenic failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0054733 MONDO:0004983 True spermatogenic failure 29 spermatogenic failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0054736 MONDO:0000141 True mosaic variegated aneuploidy syndrome 3 mosaic variegated aneuploidy syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0054737 MONDO:0009046 True Fraser syndrome 1 Fraser syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0054738 MONDO:0009046 True Fraser syndrome 2 Fraser syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0054739 MONDO:0009046 True Fraser syndrome 3 Fraser syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0054740 MONDO:0007339 True blepharocheilodontic syndrome 1 blepharocheilodontic syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0054741 MONDO:0000732 True combined oxidative phosphorylation deficiency 34 combined oxidative phosphorylation deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0054742 MONDO:0000732 True combined oxidative phosphorylation deficiency 35 combined oxidative phosphorylation deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0054716 MONDO:0016660 True microcephaly 19, primary, autosomal recessive autosomal recessive primary microcephaly UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0054722 MONDO:0000127 True geleophysic dysplasia 3 geleophysic dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0054723 MONDO:0004983 True spermatogenic failure 19 spermatogenic failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0054724 MONDO:0004983 True spermatogenic failure 20 spermatogenic failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0054725 MONDO:0004983 True spermatogenic failure 21 spermatogenic failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0054726 MONDO:0004983 True spermatogenic failure 22 spermatogenic failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0054727 MONDO:0004983 True spermatogenic failure 23 spermatogenic failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0054728 MONDO:0004983 True spermatogenic failure 24 spermatogenic failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0054729 MONDO:0004983 True spermatogenic failure 25 spermatogenic failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0054730 MONDO:0004983 True spermatogenic failure 26 spermatogenic failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0054731 MONDO:0004983 True spermatogenic failure 27 spermatogenic failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0054732 MONDO:0004983 True spermatogenic failure 28 spermatogenic failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0054733 MONDO:0004983 True spermatogenic failure 29 spermatogenic failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0054736 MONDO:0000141 True mosaic variegated aneuploidy syndrome 3 mosaic variegated aneuploidy syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0054737 MONDO:0009046 True Fraser syndrome 1 Fraser syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0054738 MONDO:0009046 True Fraser syndrome 2 Fraser syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0054739 MONDO:0009046 True Fraser syndrome 3 Fraser syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0054740 MONDO:0007339 True blepharocheilodontic syndrome 1 blepharocheilodontic syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0054741 MONDO:0000732 True combined oxidative phosphorylation deficiency 34 combined oxidative phosphorylation deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0054742 MONDO:0000732 True combined oxidative phosphorylation deficiency 35 combined oxidative phosphorylation deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED MONDO:0054743 MONDO:0000447 True polycystic liver disease 3 with or without kidney cysts autosomal dominant polycystic liver disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0054748 MONDO:0019391 True Fanconi anemia, complementation group S Fanconi anemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0054752 MONDO:0017923 True multiple synostoses syndrome 4 multiple synostoses syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0054752 MONDO:0017923 True multiple synostoses syndrome 4 multiple synostoses syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED MONDO:0054761 MONDO:0016660 True microcephaly 20, primary, autosomal recessive autosomal recessive primary microcephaly UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0054763 MONDO:0018307 True neurodegeneration with brain iron accumulation 7 neurodegeneration with brain iron accumulation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0054764 MONDO:0018307 True neurodegeneration with brain iron accumulation 8 neurodegeneration with brain iron accumulation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING @@ -10465,38 +18111,43 @@ MONDO:0054765 MONDO:0007101 True amyloidosis, primary localized cutaneous, 3 fam MONDO:0054770 MONDO:0015375 True orofaciodigital syndrome 18 orofaciodigital syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0054771 MONDO:0015486 True keratoconus 9 keratoconus UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0054776 MONDO:0020310 True epilepsy, familial focal, with variable foci 4 familial focal epilepsy with variable foci UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0054781 MONDO:0000732 True combined oxidative phosphorylation deficiency 36 combined oxidative phosphorylation deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0054782 MONDO:0019046 True leukodystrophy, hypomyelinating, 15 leukodystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0054785 MONDO:0017338 True multiple mitochondrial dysfunctions syndrome 6 fatal multiple mitochondrial dysfunctions syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0054791 MONDO:0019046 True leukodystrophy, hypomyelinating, 16 leukodystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0054781 MONDO:0000732 True combined oxidative phosphorylation deficiency 36 combined oxidative phosphorylation deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0054782 MONDO:0019046 True leukodystrophy, hypomyelinating, 15 leukodystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0054785 MONDO:0017338 True multiple mitochondrial dysfunctions syndrome 6 fatal multiple mitochondrial dysfunctions syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0054791 MONDO:0019046 True leukodystrophy, hypomyelinating, 16 leukodystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED MONDO:0054794 MONDO:0016349 True hydrocephalus, congenital, 3, with brain anomalies congenital hydrocephalus UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0054801 MONDO:0001115 True erythrocytosis, familial, 6 familial polycythemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0054802 MONDO:0001115 True erythrocytosis, familial, 7 familial polycythemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0054801 MONDO:0001115 True erythrocytosis, familial, 6 familial polycythemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0054802 MONDO:0001115 True erythrocytosis, familial, 7 familial polycythemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED MONDO:0054804 MONDO:0016660 True microcephaly 21, primary, autosomal recessive autosomal recessive primary microcephaly UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0054805 MONDO:0016660 True microcephaly 22, primary, autosomal recessive autosomal recessive primary microcephaly UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0054806 MONDO:0016660 True microcephaly 23, primary, autosomal recessive autosomal recessive primary microcephaly UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0054813 MONDO:0020066 True Ehlers-Danlos syndrome, classic-like, 2 Ehlers-Danlos syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0054817 MONDO:0019046 True leukodystrophy, hypomyelinating, 17 leukodystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0054831 MONDO:0015452 True Coffin-Siris syndrome 7 Coffin-Siris syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0054832 MONDO:0020364 True corneal dystrophy, posterior polymorphous, 4 posterior polymorphous corneal dystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0054813 MONDO:0006025 True Ehlers-Danlos syndrome, classic-like, 2 autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0054813 MONDO:0020066 True Ehlers-Danlos syndrome, classic-like, 2 Ehlers-Danlos syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0054817 MONDO:0019046 True leukodystrophy, hypomyelinating, 17 leukodystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0054831 MONDO:0015452 True Coffin-Siris syndrome 7 Coffin-Siris syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0054832 MONDO:0020364 True corneal dystrophy, posterior polymorphous, 4 posterior polymorphous corneal dystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0054833 MONDO:0000426 True charcot-marie-tooth disease, axonal, type 2DD autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0054833 MONDO:0018993 True charcot-marie-tooth disease, axonal, type 2DD Charcot-Marie-Tooth disease type 2 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0054835 MONDO:0013150 True classic dopamine transporter deficiency syndrome parkinsonism-dystonia, infantile UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0054838 MONDO:0024573 True cardiomyopathy, familial hypertrophic 27 familial hypertrophic cardiomyopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0054843 MONDO:0016575 True ciliary dyskinesia, primary, 38 primary ciliary dyskinesia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0054844 MONDO:0020135 True pontocerebellar hypoplasia, type 1D pontocerebellar hypoplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0054845 MONDO:0100062 True developmental and epileptic encephalopathy, 66 developmental and epileptic encephalopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0054846 MONDO:0000160 True epilepsy, familial adult myoclonic, 6 epilepsy, familial adult myoclonic UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0054847 MONDO:0000160 True epilepsy, familial adult myoclonic, 7 epilepsy, familial adult myoclonic UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0054849 MONDO:0005265 True inflammatory bowel disease 29 inflammatory bowel disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0054850 MONDO:0009299 True ovarian dysgenesis 6 46 XX gonadal dysgenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0054843 MONDO:0016575 True ciliary dyskinesia, primary, 38 primary ciliary dyskinesia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0054844 MONDO:0020135 True pontocerebellar hypoplasia, type 1D pontocerebellar hypoplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0054845 MONDO:0100062 True developmental and epileptic encephalopathy, 66 developmental and epileptic encephalopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0054846 MONDO:0000160 True epilepsy, familial adult myoclonic, 6 epilepsy, familial adult myoclonic UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0054847 MONDO:0000160 True epilepsy, familial adult myoclonic, 7 epilepsy, familial adult myoclonic UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0054849 MONDO:0005265 True inflammatory bowel disease 29 inflammatory bowel disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0054850 MONDO:0009299 True ovarian dysgenesis 6 46 XX gonadal dysgenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED MONDO:0054852 MONDO:0019347 True peeling skin syndrome 6 peeling skin syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0054860 MONDO:0019588 True hearing loss, autosomal recessive 110 hearing loss, autosomal recessive UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0054861 MONDO:0019502 True intellectual disability, autosomal recessive 63 autosomal recessive non-syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0054860 MONDO:0019588 True hearing loss, autosomal recessive 110 hearing loss, autosomal recessive UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0054861 MONDO:0019502 True intellectual disability, autosomal recessive 63 autosomal recessive non-syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED MONDO:0054862 MONDO:0019852 True premature ovarian failure 15 inherited primary ovarian failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0054868 MONDO:0004567 True meconium ileus ileus UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0056796 MONDO:0005240 True obstructive nephropathy kidney disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0054865 MONDO:0016387 True encephalopathy due to mitochondrial and peroxisomal fission defect mitochondrial oxidative phosphorylation disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0056795 MONDO:0010595 True X-linked spermatogenic failure 1 Sertoli cell-only syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0056796 MONDO:0005240 True obstructive nephropathy kidney disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0056804 MONDO:0000628 True benign neoplasm of peripheral nervous system central nervous system organ benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0056805 MONDO:0003250 True benign peripheral nerve granular cell tumor benign granular cell tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0056806 MONDO:0005097 True non-small cell squamous lung carcinoma squamous cell lung carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0056806 MONDO:0005233 True non-small cell squamous lung carcinoma non-small cell lung carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0056806 MONDO:0005233 True non-small cell squamous lung carcinoma non-small cell lung carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0056813 MONDO:0004989 True hormone-resistant breast carcinoma breast carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0056814 MONDO:0005159 True hormone-resistant prostate carcinoma prostate carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0056815 MONDO:0006074 True liver adenosquamous carcinoma adenosquamous carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -10507,112 +18158,146 @@ MONDO:0056818 MONDO:0006074 True skin adenosquamous carcinoma adenosquamous carc MONDO:0056819 MONDO:0002038 True nasal cavity and paranasal sinus carcinoma head and neck carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0056819 MONDO:0056820 True nasal cavity and paranasal sinus carcinoma nasal cavity and paranasal sinus neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0056820 MONDO:0005586 True nasal cavity and paranasal sinus neoplasm head and neck neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0060486 MONDO:0015168 True arthrogryposis multiplex congenita 1, neurogenic, with myelin defect arthrogryposis multiplex congenita UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0060455 MONDO:0000425 True X-linked congenital hemolytic anemia X-linked disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0060455 MONDO:0003689 True X-linked congenital hemolytic anemia familial hemolytic anemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0060486 MONDO:0015168 True arthrogryposis multiplex congenita 1, neurogenic, with myelin defect arthrogryposis multiplex congenita UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0060489 MONDO:0100249 True 46,XX sex reversal 4 46,XX testicular disorder of sex development UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0060502 MONDO:0015159 True neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0060549 MONDO:0003847 True congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0060554 MONDO:0020831 True vertebral, cardiac, renal, and limb defects syndrome 1 congenital vertebral-cardiac-renal anomalies syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0060555 MONDO:0020831 True vertebral, cardiac, renal, and limb defects syndrome 2 congenital vertebral-cardiac-renal anomalies syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0060765 MONDO:0005079 True fibroepithelial polyp polyp UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0060766 MONDO:0002519 True anal polyp anus disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0060766 MONDO:0024292 True anal polyp gastrointestinal polyp UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0060768 MONDO:0003396 True gingival fibroepithelial polyp epulis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0060768 MONDO:0060765 True gingival fibroepithelial polyp fibroepithelial polyp UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0060774 MONDO:0021394 True vaginal fibroepithelial polyp polyp of vagina UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0060774 MONDO:0060765 True vaginal fibroepithelial polyp fibroepithelial polyp UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0060777 MONDO:0000751 True cervical fibroepithelial polyp cervical polyp UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0060777 MONDO:0060765 True cervical fibroepithelial polyp fibroepithelial polyp UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0060778 MONDO:0001083 True adult Fanconi syndrome Fanconi renotubular syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0060779 MONDO:0001083 True acquired Fanconi syndrome Fanconi renotubular syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0060782 MONDO:0005570 True premalignant hematological system disease hematologic disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0060782 MONDO:0021074 True premalignant hematological system disease precancerous condition UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0060783 MONDO:0018479 True classic congenital adrenal hyperplasia congenital adrenal hyperplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0060556 MONDO:0019755 True joint laxity, short stature, and myopia developmental defect during embryogenesis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0060564 MONDO:0015962 True HELIX syndrome inherited renal tubular disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0060568 MONDO:0015159 True Pilarowski-Bjornsson syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0060583 MONDO:0003847 True platelet abnormalities with eosinophilia and immune-mediated inflammatory disease hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0060585 MONDO:0015362 True neuronopathy, distal hereditary motor, type 9 neuronopathy, distal hereditary motor, autosomal dominant UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0060592 MONDO:0002254 True Sweeney-Cox syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0060592 MONDO:0003847 True Sweeney-Cox syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0060627 MONDO:0015159 True glycosylphosphatidylinositol biosynthesis defect 15 multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0060631 MONDO:0002254 True Alkuraya-Kucinskas syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0060631 MONDO:0003847 True Alkuraya-Kucinskas syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0060732 MONDO:0010110 True tetraamelia syndrome 2 tetraamelia-multiple malformations syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0060764 MONDO:0010110 True tetraamelia syndrome 1 tetraamelia-multiple malformations syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0100036 MONDO:0005027 True variable age onset epilepsy epilepsy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0100045 MONDO:0100043 True epidermodysplasia verruciformis, susceptibility to, 1 epidermodysplasia verruciformis, susceptibility to UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0100053 MONDO:0000605 True anaphylaxis hypersensitivity reaction disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0100055 MONDO:0002581 True intraosseous spindle cell rhabdomyosarcoma with TFCP2/NCOA2 rearrangements spindle cell rhabdomyosarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0100060 MONDO:0002581 True congenital/infantile spindle cell rhabdomyosarcoma with VGLL2/NCOA2/CITED2 rearrangements spindle cell rhabdomyosarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0100063 MONDO:0002604 True Pericytoma with t(7;12) pericytic neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0100067 MONDO:0002581 True childhood spindle cell rhabdomyosarcoma spindle cell rhabdomyosarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0100079 MONDO:0100062 True developmental and epileptic encephalopathy, 6 developmental and epileptic encephalopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0100082 MONDO:0007893 True LEOPARD syndrome 1 Noonan syndrome with multiple lentigines UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0100082 MONDO:0007893 True LEOPARD syndrome 1 Noonan syndrome with multiple lentigines UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED MONDO:0100092 MONDO:0013981 True myoclonus, familial, 2 myoclonus, familial UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0100093 MONDO:0013981 True myoclonus, familial, 1 myoclonus, familial UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0100101 MONDO:0008824 True fetal akinesia deformation sequence 1 fetal akinesia deformation sequence UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0100102 MONDO:0008824 True fetal akinesia deformation sequence 2 fetal akinesia deformation sequence UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0100103 MONDO:0008824 True fetal akinesia deformation sequence 3 fetal akinesia deformation sequence UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0100104 MONDO:0008824 True fetal akinesia deformation sequence 4 fetal akinesia deformation sequence UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0100105 MONDO:0020496 True brain small vessel disease 3 familial porencephaly UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0100115 MONDO:0002565 True acute flaccid myelitis myelitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0100151 MONDO:0016239 True nephropathic cystinosis cystinosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0100095 MONDO:0006025 True neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0100096 MONDO:0020753 True COVID-19 Orthocoronavirinae infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0100101 MONDO:0008824 True fetal akinesia deformation sequence 1 fetal akinesia deformation sequence UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0100102 MONDO:0008824 True fetal akinesia deformation sequence 2 fetal akinesia deformation sequence UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0100103 MONDO:0008824 True fetal akinesia deformation sequence 3 fetal akinesia deformation sequence UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0100104 MONDO:0008824 True fetal akinesia deformation sequence 4 fetal akinesia deformation sequence UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0100105 MONDO:0020496 True brain small vessel disease 3 familial porencephaly UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0100115 MONDO:0002565 True acute flaccid myelitis myelitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0100116 MONDO:0020753 True Middle East respiratory syndrome Orthocoronavirinae infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0100119 MONDO:0800166 True Knobloch syndrome 2 Knobloch syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0100135 MONDO:0100062 True Dravet syndrome developmental and epileptic encephalopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0100153 MONDO:0005071 True tubulinopathy nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0100156 MONDO:0009853 True Imerslund-Grasbeck syndrome type 1 Imerslund-Grasbeck syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0100157 MONDO:0009853 True Imerslund-Grasbeck syndrome type 2 Imerslund-Grasbeck syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0100164 MONDO:0016391 True permanent neonatal diabetes mellitus neonatal diabetes mellitus UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0100163 MONDO:0005108 True COVID-19–associated multisystem inflammatory syndrome in children viral infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0100164 MONDO:0016391 True permanent neonatal diabetes mellitus neonatal diabetes mellitus UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0100165 MONDO:0100164 True permanent neonatal diabetes mellitus 1 permanent neonatal diabetes mellitus UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0100192 MONDO:0005154 True liver failure liver disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0100186 MONDO:0016543 True GTP cyclohydrolase I deficiency with hyperphenylalaninemia hyperphenylalaninemia due to tetrahydrobiopterin deficiency UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0100211 MONDO:0006025 True growth hormone insensitivity with immune dysregulation 1, autosomal recessive autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0100211 MONDO:0100210 True growth hormone insensitivity with immune dysregulation 1, autosomal recessive growth hormone insensitivity syndrome with immune dysregulation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0100212 MONDO:0015947 True IFAP syndrome inherited ichthyosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0100213 MONDO:0020605 True IFAP syndrome 1, with or without BRESHECK syndrome X-linked recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0100213 MONDO:0100212 True IFAP syndrome 1, with or without BRESHECK syndrome IFAP syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0100215 MONDO:0100214 True Rajab interstitial lung disease with brain calcifications 1 Rajab interstitial lung disease with brain calcifications UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0100216 MONDO:0002254 True DICER1-related tumor predisposition syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0100218 MONDO:0015168 True arthrogryposis multiplex congenita 5 arthrogryposis multiplex congenita UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0100216 MONDO:0002254 True DICER1-related tumor predisposition syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0100216 MONDO:0003847 True DICER1-related tumor predisposition hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0100217 MONDO:0031632 True developmental delay with short stature, dysmorphic facial features, and sparse hair 2 developmental delay with short stature, dysmorphic facial features, and sparse hair UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0100218 MONDO:0015168 True arthrogryposis multiplex congenita 5 arthrogryposis multiplex congenita UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED MONDO:0100219 MONDO:0100210 True growth hormone insensitivity syndrome with immune dysregulation 2, autosomal dominant growth hormone insensitivity syndrome with immune dysregulation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0100220 MONDO:0100214 True Rajab interstitial lung disease with brain calcifications 2 Rajab interstitial lung disease with brain calcifications UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0100221 MONDO:0100212 True IFAP syndrome 2 IFAP syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0100224 MONDO:0100223 True mitochondrial complex I deficiency, nuclear type 1 mitochondrial complex I deficiency, nuclear type UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0100250 MONDO:0100249 True 46,XX sex reversal 1 46,XX testicular disorder of sex development UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0100251 MONDO:0019052 True familial hyperphosphatemic tumoral calcinosis/hyperphosphatemic hyperostosis syndrome inborn errors of metabolism UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0100253 MONDO:0002254 True Roberts-SC phocomelia syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0100223 MONDO:0100133 True mitochondrial complex I deficiency, nuclear type mitochondrial complex I deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0100224 MONDO:0100223 True mitochondrial complex I deficiency, nuclear type 1 mitochondrial complex I deficiency, nuclear type UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0100244 MONDO:0003656 True paroxysmal nocturnal hemoglobinuria hemoglobinuria UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0100244 MONDO:0015610 True paroxysmal nocturnal hemoglobinuria acquired aplastic anemia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0100247 MONDO:0003847 True multiple congenital anomalies-hypotonia-seizures syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0100249 MONDO:0017576 True 46,XX testicular disorder of sex development 46,XX disorder of sex development UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0100250 MONDO:0003847 True 46,XX sex reversal 1 hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0100250 MONDO:0100249 True 46,XX sex reversal 1 46,XX testicular disorder of sex development UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0100251 MONDO:0018891 True familial hyperphosphatemic tumoral calcinosis/hyperphosphatemic hyperostosis syndrome familial tumoral calcinosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0100251 MONDO:0019052 True familial hyperphosphatemic tumoral calcinosis/hyperphosphatemic hyperostosis syndrome inborn errors of metabolism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0100253 MONDO:0002254 True Roberts-SC phocomelia syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0100253 MONDO:0006025 True Roberts-SC phocomelia syndrome autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0100255 MONDO:0000351 True adenosine kinase deficiency disorder of methionine catabolism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0100280 MONDO:0000432 True Waldenstrom macroglobulinemia lymphoplasmacytic lymphoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0100280 MONDO:0017594 True Waldenstrom macroglobulinemia indolent B-cell non-Hodgkin lymphoma UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0100280 MONDO:0017594 True Waldenstrom macroglobulinemia indolent B-cell non-Hodgkin lymphoma UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0100281 MONDO:0100280 True macroglobulinemia, Waldenstrom, 1 Waldenstrom macroglobulinemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0100285 MONDO:0008867 True extrahepatic biliary atresia biliary atresia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0100290 MONDO:0015524 True colon serrated polyposis hyperplastic polyposis syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0100290 MONDO:0021400 True colon serrated polyposis polyp of colon UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0100291 MONDO:0004963 True early T cell progenitor acute lymphoblastic leukemia T-cell acute lymphoblastic leukemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0100292 MONDO:0031415 True Carey-Fineman-Ziter syndrome 2 Carey-Fineman-Ziter syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0100294 MONDO:0031230 True mitochondrial complex II deficiency, nuclear type 1 mitochondrial complex II deficiency, nuclear type UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0100296 MONDO:0031421 True Olmsted syndrome 1 Olmsted syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0100296 MONDO:0031421 True Olmsted syndrome 1 Olmsted syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED MONDO:0100297 MONDO:0031439 True short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies 1 short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0100302 MONDO:0007872 True LADD syndrome 1 LADD syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0100303 MONDO:0011870 True ichthyosis, annular epidermolytic 1 annular epidermolytic ichthyosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0100313 MONDO:0000490 True focal segmental glomerulosclerosis glomerulosclerosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0100316 MONDO:0019171 True long QT syndrome 1 familial long QT syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0100325 MONDO:0031169 True odontochondrodysplasia 1 odontochondrodysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0100326 MONDO:0021181 True Glanzmann thrombasthenia inherited blood coagulation disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0100338 MONDO:0002118 True urinary tract infection urinary system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0100338 MONDO:0005550 True urinary tract infection infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0100340 MONDO:0100339 True Friedreich ataxia 1 Friedreich ataxia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0100342 MONDO:0002714 True malignant glioma central nervous system cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0100342 MONDO:0021042 True malignant glioma glioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0100344 MONDO:0015231 True Bartter disease type 1 Bartter syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0100345 MONDO:0019214 True lactose intolerance inborn carbohydrate metabolic disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0100345 MONDO:0020598 True lactose intolerance malabsorption syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0100347 MONDO:0002254 True carcinoid syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0100344 MONDO:0015231 True Bartter disease type 1 Bartter syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0100345 MONDO:0019214 True lactose intolerance inborn carbohydrate metabolic disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0100349 MONDO:0015369 True COACH syndrome Joubert syndrome and related disorders UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0100350 MONDO:0015362 True neuronopathy, distal hereditary motor, type 5 neuronopathy, distal hereditary motor, autosomal dominant UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0100352 MONDO:0044202 True episodic kinesigenic dyskinesia 1 episodic kinesigenic dyskinesia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0100354 MONDO:0025986 True megacystis-microcolon-intestinal hypoperistalsis syndrome 1 megacystis-microcolon-intestinal hypoperistalsis syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0100367 MONDO:0019755 True port-wine nevi-mega cisterna magna-hydrocephalus syndrome developmental defect during embryogenesis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0100373 MONDO:0018874 True acute myeloid leukemia, inv(16)(p13.1;q22) acute myeloid leukemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0100374 MONDO:0018874 True acute myeloid leukemia, t(16;16)(p13.1;q22) acute myeloid leukemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0100375 MONDO:0018874 True acute myeloid leukemia, t(15;17)(q24;q21) acute myeloid leukemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0100377 MONDO:0018874 True acute myeloid leukemia, t(10;11)(p12;q23) acute myeloid leukemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0100381 MONDO:0018874 True acute myeloid leukemia, t(6;11)(q27;q23) acute myeloid leukemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0100382 MONDO:0018874 True acute myeloid leukemia, t(6;9)(p23;q34.1) acute myeloid leukemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0100382 MONDO:0018874 True acute myeloid leukemia, t(6;9)(p23;q34.1) acute myeloid leukemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0100389 MONDO:0018874 True acute myeloid leukemia, Trisomy 8 acute myeloid leukemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0100395 MONDO:0018874 True acute myeloid leukemia, t(5;11)(q35;p15) acute myeloid leukemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0100396 MONDO:0018874 True acute myeloid leukemia, t(7;12)(q36;p13) acute myeloid leukemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0100398 MONDO:0018874 True acute myeloid leukemia, inv(3)(q21.3;q26.2) acute myeloid leukemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0100399 MONDO:0018874 True acute myeloid leukemia, t(3;3)(q21.3;q26.2) acute myeloid leukemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0100404 MONDO:0018874 True acute myeloid leukemia, MLL gene rearrangement acute myeloid leukemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0100404 MONDO:0018874 True acute myeloid leukemia, MLL gene rearrangement acute myeloid leukemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0100407 MONDO:0018874 True acute myeloid leukemia, t(11;15)(p15;q35) acute myeloid leukemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0100409 MONDO:0018874 True acute myeloid leukemia, t(3;5)(q25;q34) acute myeloid leukemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0100409 MONDO:0018874 True acute myeloid leukemia, t(3;5)(q25;q34) acute myeloid leukemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0100413 MONDO:0018874 True acute myeloid leukemia, biallelic CEBPA gene mutation acute myeloid leukemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0100414 MONDO:0018874 True acute myeloid leukemia, CEBPA gene mutation acute myeloid leukemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0100415 MONDO:0018874 True acute myeloid leukemia, FLT3 internal tandem duplication acute myeloid leukemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0100422 MONDO:0018874 True acute myeloid leukemia, RUNX1 gene mutation acute myeloid leukemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0100431 MONDO:0005277 True migraine without aura migraine disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0100436 MONDO:0005129 True cataract 2, multiple types cataract UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0100422 MONDO:0018874 True acute myeloid leukemia, RUNX1 gene mutation acute myeloid leukemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0100428 MONDO:0008890 True progressive bulbar palsy of childhood progressive bulbar palsy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0100429 MONDO:0019072 True intrahepatic cholestasis of pregnancy intrahepatic cholestasis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0100431 MONDO:0005277 True migraine without aura migraine disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0100436 MONDO:0005129 True cataract 2, multiple types cataract UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0100452 MONDO:0000426 True RPE65-related dominant retinopathy autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0100459 MONDO:0005372 True azoospermia male infertility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0100462 MONDO:0018383 True short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans osteonecrosis of genetic origin UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0100466 MONDO:0018973 True butterfly-shaped pigment dystrophy patterned dystrophy of the retinal pigment epithelium UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0100467 MONDO:0005081 True preeclampsia/eclampsia 1 preeclampsia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0100470 MONDO:0005087 True reactive airway disease respiratory system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0100471 MONDO:0024298 True vitamin D deficiency vitamin deficiency disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0100480 MONDO:0015129 True autoimmune primary adrenal insufficiency chronic primary adrenal insufficiency UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0100480 MONDO:0015129 True autoimmune primary adrenal insufficiency chronic primary adrenal insufficiency UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0100490 MONDO:0015855 True breasts and/or nipples, aplasia or hypoplasia of, 1 isolated congenital breast hypoplasia/aplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0100492 MONDO:0002254 True Bonnevie-Ullrich syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0100505 MONDO:0002406 True food dermatitis dermatitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0100510 MONDO:0005516 True spondyloepimetaphyseal dysplasia osteochondrodysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0100512 MONDO:0018158 True mitochondrial DNA depletion syndrome, hepatocerebral form mitochondrial DNA depletion syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0100514 MONDO:0005140 True familial ovarian carcinoma ovarian carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0100527 MONDO:0016357 True dysplastic cortical hyperostosis, Kozlowski-Tsuruta type dysplastic cortical hyperostosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0100528 MONDO:0014805 True Hao-Fountain syndrome due to 16p13.2 microdeletion Hao-Fountain syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0100534 MONDO:0006260 True SMARCB1-deficient kidney medullary carcinoma kidney medullary carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0200000 MONDO:0003612 True uterine ligament adenosarcoma uterine ligament cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0600029 MONDO:0005275 True restrictive pulmonary disease lung disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0600030 MONDO:0004947 True B-cell acute lymphoblastic leukemia with t(1;19)(q23;p13.3); E2A-PBX1 (TCF3-PBX1) B-cell acute lymphoblastic leukemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0700048 MONDO:0002254 True hand-foot syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0700051 MONDO:0005154 True liver abscess (disease) liver disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0700051 MONDO:0005227 True liver abscess (disease) abscess UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0700051 MONDO:0043424 True liver abscess (disease) digestive system infectious disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0700058 MONDO:0002173 True Morton neuroma neuroma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0700092 MONDO:0005071 True neurodevelopmental disorder nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0600030 MONDO:0004947 True B-cell acute lymphoblastic leukemia with t(1;19)(q23;p13.3); E2A-PBX1 (TCF3-PBX1) B-cell acute lymphoblastic leukemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0700088 MONDO:0015427 True paroxysmal nonkinesigenic dyskinesia paroxysmal dyskinesia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0700112 MONDO:0018677 True heterotaxy, visceral, 5, autosomal visceral heterotaxy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0700135 MONDO:0700134 True bovine leukemia bovine neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0700136 MONDO:0700134 True bovine protoporphyria bovine neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -10645,42 +18330,408 @@ MONDO:0700191 MONDO:0700189 True chicken fibrosarcoma chicken neoplasm UNSUPPORT MONDO:0700192 MONDO:0700189 True chicken hepatoma chicken neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0700193 MONDO:0700189 True chicken monocytic leukemia chicken neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0700194 MONDO:0700189 True chicken lymphoma chicken neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0700218 MONDO:0021680 True group B streptococcal infection streptococcal infection UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0700219 MONDO:0024880 True neoplastic meningitis metastatic malignant neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0800025 MONDO:0030639 True Teebi hypertelorism syndrome 1 Teebi hypertelorism syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0800026 MONDO:0002254 True central hypoventilation syndrome, congenital, 1, with or without Hirschsprung disease syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0700226 MONDO:0005271 True food allergy allergic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0800025 MONDO:0030639 True Teebi hypertelorism syndrome 1 Teebi hypertelorism syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0800026 MONDO:0001292 True central hypoventilation syndrome, congenital, 1, with or without Hirschsprung disease autonomic nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0800026 MONDO:0800031 True central hypoventilation syndrome, congenital, 1, with or without Hirschsprung disease central hypoventilation syndrome, congenital UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0800027 MONDO:0019046 True leukoencephalopathy, diffuse hereditary, with spheroids 1 leukodystrophy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED MONDO:0800027 MONDO:0030796 True leukoencephalopathy, diffuse hereditary, with spheroids 1 leukoencephalopathy, hereditary diffuse, with spheroids UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0800028 MONDO:0031115 True dyskinesia with orofacial involvement, autosomal dominant dyskinesia with orofacial involvement UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0800029 MONDO:0002771 True interstitial lung disease 2 pulmonary fibrosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0800029 MONDO:0002429 True interstitial lung disease 2 idiopathic interstitial pneumonia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0800029 MONDO:0002771 True interstitial lung disease 2 pulmonary fibrosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0800029 MONDO:0031199 True interstitial lung disease 2 inherited interstitial lung disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0800030 MONDO:0030831 True gastrointestinal defects and immunodeficiency syndrome 1 gastrointestinal defect and immunodeficiency syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0800042 MONDO:0031213 True restrictive dermopathy 1 restrictive dermopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0800042 MONDO:0031213 True restrictive dermopathy 1 restrictive dermopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0800043 MONDO:0019698 True Stüve-Wiedemann syndrome 1 bent bone dysplasia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0800043 MONDO:0031280 True Stüve-Wiedemann syndrome 1 Stuve-Wiedemann syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0800044 MONDO:0019214 True congenital disorder of deglycosylation 1 inborn carbohydrate metabolic disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0800044 MONDO:0031376 True congenital disorder of deglycosylation 1 congenital disorder of deglycosylation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0800045 MONDO:0031384 True autoinflammatory syndrome, familial, Behcet-like 1 autoinflammatory syndrome, familial, Behcet-like UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0800046 MONDO:0031432 True thyroid hormone metabolism, abnormal 1 thyroid hormone metabolism, abnormal UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0800047 MONDO:0031447 True macrothrombocytopenia, isolated, 1, autosomal dominant macrothrombocytopenia, isolated UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0800113 MONDO:0018882 True necrotizing vasculitis vasculitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0800133 MONDO:0005087 True pulmonary hypoplasia respiratory system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0800177 MONDO:0021178 True frostbite injury UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0858921 MONDO:0006974 True EWSR1-negative small round cell tumor small cell sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0800104 MONDO:0031520 True immunodeficiency 105 familial severe combined immunodeficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0800131 MONDO:0018037 True hyper-IgE recurrent infection syndrome 4A, autosomal dominant hyper-IgE syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0800167 MONDO:0800166 True Knobloch syndrome 1 Knobloch syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0800341 MONDO:0019952 True congenital myopathy 4A, autosomal dominant congenital myopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0800366 MONDO:0015780 True dyskeratosis congenita, autosomal dominant 4 dyskeratosis congenita UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0800372 MONDO:0018772 True Joubert syndrome 29 Joubert syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0800436 MONDO:0031329 True craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development 1 craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0800437 MONDO:0031415 True Carey-Fineman-Ziter syndrome 1 Carey-Fineman-Ziter syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0800438 MONDO:0031632 True developmental delay with short stature, dysmorphic facial features, and sparse hair 1 developmental delay with short stature, dysmorphic facial features, and sparse hair UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0800445 MONDO:0800444 True Birt-Hogg-Dube syndrome 1 Birt-Hogg-Dube syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0800448 MONDO:0019046 True leukoencephalopathy with vanishing white matter leukodystrophy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED +MONDO:0800449 MONDO:0015905 True lysosomal acid lipase deficiency syndromic dyslipidemia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0800449 MONDO:0019245 True lysosomal acid lipase deficiency lysosomal lipid storage disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0800455 MONDO:0800444 True Birt-Hogg-Dube syndrome 2 Birt-Hogg-Dube syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0850001 MONDO:0016295 True congenital neuronal ceroid lipofuscinosis neuronal ceroid lipofuscinosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0850053 MONDO:0019751 True F12-associated cold autoinflammatory syndrome autoinflammatory syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0850064 MONDO:0015356 True inherited hematologic cancer-predisposing syndrome hereditary neoplastic syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0850065 MONDO:0019751 True neonatal-onset severe multisystemic autoinflammatory disease with increased IL18 autoinflammatory syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0850066 MONDO:0019751 True SAMD9L-associated autoinflammatory syndrome autoinflammatory syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0850072 MONDO:0015337 True non-syndromic unisutural craniosynostosis isolated craniosynostosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0850073 MONDO:0015469 True non-syndromic unicoronal craniosynostosis craniosynostosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0850074 MONDO:0015469 True non-syndromic unilambdoid craniosynostosis craniosynostosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0850075 MONDO:0015469 True non-syndromic unifrontosphenoidal craniosynostosis craniosynostosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0850076 MONDO:0015469 True non-syndromic unisquamosal craniosynostosis craniosynostosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0850077 MONDO:0015469 True non-syndromic multisutural craniosynostosis craniosynostosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0850078 MONDO:0015469 True non-syndromic non-specific multisutural craniosynostosis craniosynostosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0850079 MONDO:0015469 True non-syndromic bilambdoid craniosynostosis craniosynostosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0850080 MONDO:0015469 True non-syndromic unicoronal and sagittal craniosynostosis craniosynostosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0850081 MONDO:0015469 True non-syndromic metopic and sagittal craniosynostosis craniosynostosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0850082 MONDO:0015469 True non-syndromic bicoronal and metopic craniosynostosis craniosynostosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0850083 MONDO:0015469 True non-syndromic bicoronal and sagittal craniosynostosis craniosynostosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0850092 MONDO:0002254 True post-cardiac arrest syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0850093 MONDO:0000411 True absence epilepsy electroclinical syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0850097 MONDO:0020640 True autoimmune limbic encephalitis autoimmune encephalitis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0850098 MONDO:0005372 True oligoasthenoteratozoospermia male infertility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0850101 MONDO:0005012 True spitzoid melanoma cutaneous melanoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0850104 MONDO:0019956 True paraneoplastic isolated brainstem encephalitis encephalitis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0850110 MONDO:0005012 True melanoma in congenital melanocytic nevus cutaneous melanoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0850112 MONDO:0000430 True breast implant-associated anaplastic large cell lymphoma mature T-cell and NK-cell non-Hodgkin lymphoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0850122 MONDO:0005061 True solid adenocarcinoma with mucin production lung adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0850123 MONDO:0056804 True autonomic nervous system benign neoplasm benign neoplasm of peripheral nervous system UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0850125 MONDO:0004992 True malignant adenoma cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0850127 MONDO:0015798 True epithelioid inflammatory myofibroblastic sarcoma inflammatory myofibroblastic tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0850128 MONDO:0003150 True epididymis disease male reproductive system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0850129 MONDO:0002516 True gastroesophageal cancer digestive system cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0850130 MONDO:0004970 True gastroesophageal adenocarcinoma adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0850144 MONDO:0005165 True germ cell benign neoplasm benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0850149 MONDO:0002513 True nephroma kidney benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0850150 MONDO:0005240 True kidney cortex disease kidney disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0850151 MONDO:0001082 True lymph node carcinoma lymph node cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0850151 MONDO:0004993 True lymph node carcinoma carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0850152 MONDO:0000633 True auditory system benign neoplasm sensory organ benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0850152 MONDO:0002409 True auditory system benign neoplasm auditory system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0850154 MONDO:0004631 True tongue carcinoma tongue cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0850156 MONDO:0004947 True B-lymphoblastic leukemia/lymphoma MLL rearranged B-cell acute lymphoblastic leukemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0850157 MONDO:0004947 True B-lymphoblastic leukemia/lymphoma with ETV6-RUNX1 B-cell acute lymphoblastic leukemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0850160 MONDO:0004947 True B-lymphoblastic leukemia/lymphoma with IL3-IGH B-cell acute lymphoblastic leukemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0850161 MONDO:0004947 True B-lymphoblastic leukemia/lymphoma, BCR-ABL1–like B-cell acute lymphoblastic leukemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0850162 MONDO:0004947 True B-lymphoblastic leukemia/lymphoma with IAMP21 B-cell acute lymphoblastic leukemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0850170 MONDO:0001516 True spinal muscular atrophy type 0 spinal muscular atrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0850196 MONDO:0007959 True medulloblastoma WNT activated medulloblastoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0850197 MONDO:0007959 True medulloblastoma SHH activated medulloblastoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0850198 MONDO:0007959 True medulloblastoma non-WNT/non-SHH medulloblastoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0850199 MONDO:0003778 True NK cell deficiency inborn error of immunity UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0850200 MONDO:0003778 True T cell and NK cell immunodeficiency inborn error of immunity UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0850201 MONDO:0002254 True hereditary alpha tryptasemia syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0850223 MONDO:0000603 True Libman-Sacks endocarditis autoimmune disorder of cardiovascular system UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0850223 MONDO:0005025 True Libman-Sacks endocarditis endocarditis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0850225 MONDO:0016264 True autoimmune cholangitis autoimmune hepatitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0850230 MONDO:0005492 True chronic urticaria urticaria UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0850231 MONDO:0006591 True erythema nodosum panniculitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0850257 MONDO:0004957 True mucinous pancreas adenocarcinoma mucinous adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0850257 MONDO:0006047 True mucinous pancreas adenocarcinoma pancreatic adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0850267 MONDO:0018872 True childhood acute megakaryoblastic leukemia acute megakaryoblastic leukemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0850269 MONDO:0018874 True core binding factor acute myeloid leukemia acute myeloid leukemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0850271 MONDO:0018872 True myeloid leukemia associated with down syndrome acute megakaryoblastic leukemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0850273 MONDO:0000521 True salivary gland mucinous adenocarcinoma salivary gland carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0850273 MONDO:0004957 True salivary gland mucinous adenocarcinoma mucinous adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0850281 MONDO:0000521 True mammary analog secretory carcinoma salivary gland carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0850282 MONDO:0004979 True chronic asthma asthma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0850283 MONDO:0004979 True acute asthma asthma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0850284 MONDO:0850282 True extrinsic asthma chronic asthma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0850285 MONDO:0004765 True environmental induced asthma intrinsic asthma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0850286 MONDO:0004765 True exercise-induced bronchoconstriction intrinsic asthma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0850287 MONDO:0004765 True aspirin-induced respiratory disease intrinsic asthma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0850289 MONDO:0005108 True human betaherpesvirus 5 infectious disease viral infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0850292 MONDO:0002039 True subjective cognitive decline cognitive disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0850295 MONDO:0004382 True acquired laryngomalacia laryngeal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0850301 MONDO:0019337 True pemphigoid autoimmune bullous skin disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0850302 MONDO:0016642 True intracranial meningioma meningioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0850303 MONDO:0016642 True supratentorial meningioma meningioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0850306 MONDO:0005147 True latent autoimmune diabetes in adults type 1 diabetes mellitus UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0850312 MONDO:0021636 True anaplastic pleomorphic xanthoastrocytoma astrocytic tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0850332 MONDO:0016684 True IDH-mutant anaplastic astrocytoma anaplastic astrocytoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0850333 MONDO:0016684 True IDH-wildtype anaplastic astrocytoma anaplastic astrocytoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0850335 MONDO:0018177 True IDH-wildtype glioblastoma glioblastoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0850338 MONDO:0003473 True spinal ependymoma, MYCN-amplified spinal cord ependymoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0850339 MONDO:0016700 True posterior fossa ependymoma anaplastic ependymoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0850340 MONDO:0016700 True supratentorial ependymoma anaplastic ependymoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0850345 MONDO:0003573 True lung pleomorphic carcinoma pleomorphic carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0850346 MONDO:0005212 True oral rhabdomyosarcoma rhabdomyosarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0850346 MONDO:0005515 True oral rhabdomyosarcoma oral cavity cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0850347 MONDO:0002837 True bladder sarcomatoid transitional cell carcinoma sarcomatoid transitional cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0850348 MONDO:0004986 True bladder small cell carcinoma urinary bladder carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0850349 MONDO:0016707 True astroblastoma, MN1-altered astroblastoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0850353 MONDO:0005159 True castration-resistant prostate carcinoma prostate carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0850368 MONDO:0019065 True immunoglobulin heavy-and-light chain amyloidosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0850371 MONDO:0005010 True nonobstructive coronary artery disease coronary artery disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0850388 MONDO:0004378 True childhood supratentorial embryonal tumor with multilayered rosettes, C19MC-altered pediatric cerebral ependymoblastoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0850416 MONDO:0000568 True autoimmune epilepsy autoimmune disorder of central nervous system UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0850416 MONDO:0005027 True autoimmune epilepsy epilepsy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0850417 MONDO:0018076 True tuberculous encephalopathy tuberculosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0850418 MONDO:0018905 True diffuse large B-cell lymphoma activated B-cell type diffuse large B-cell lymphoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0850419 MONDO:0018905 True diffuse large B-cell lymphoma germinal center B-cell type diffuse large B-cell lymphoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0850420 MONDO:0006515 True acute necrotizing pancreatitis acute pancreatitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0850421 MONDO:0006515 True acute hemorrhagic pancreatitis acute pancreatitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0850426 MONDO:0004095 True high-grade B-cell lymphoma double-hit/triple-hit B-cell neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0850445 MONDO:0000650 True benign peritoneal solitary fibrous tumor peritoneal benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0850449 MONDO:0020322 True mixed phenotype acute leukemia with BCR-ABL1 acute biphenotypic leukemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0850450 MONDO:0020322 True mixed phenotype acute leukemia with MLL rearranged acute biphenotypic leukemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0850451 MONDO:0020322 True mixed phenotype acute leukemia, B/myeloid acute biphenotypic leukemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0850452 MONDO:0020322 True mixed phenotype acute leukemia,T/myeloid acute biphenotypic leukemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0850459 MONDO:0000607 True primary cutaneous gamma-delta t-cell lymphoma primary cutaneous T-cell non-Hodgkin lymphoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0850461 MONDO:0000408 True neurobehavioral disorder with prenatal alcohol exposure fetal alcohol spectrum disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0850468 MONDO:0018905 True BN2 diffuse large B-cell lymphoma diffuse large B-cell lymphoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0850469 MONDO:0018905 True EZB diffuse large B-cell lymphoma diffuse large B-cell lymphoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0850470 MONDO:0018905 True MCD diffuse large B-cell lymphoma diffuse large B-cell lymphoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0850471 MONDO:0018905 True N1 diffuse large B-cell lymphoma diffuse large B-cell lymphoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0850472 MONDO:0018905 True ST2 diffuse large B-cell lymphoma diffuse large B-cell lymphoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0850473 MONDO:0018905 True A53 diffuse large B-cell lymphoma diffuse large B-cell lymphoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0850492 MONDO:0018874 True acute myeloid leukemia, t(8;21)(q22; q22.1) acute myeloid leukemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0850495 MONDO:0018874 True acute myeloid leukemia, t(1;22)(p13;q13) acute myeloid leukemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0850514 MONDO:0000426 True inclusion body myopathy and brain white matter abnormalities autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0850514 MONDO:0000507 True inclusion body myopathy and brain white matter abnormalities inclusion body myopathy with Paget disease of bone and frontotemporal dementia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED +MONDO:0850519 MONDO:0004736 True tetrahydrobiopterin (BH4)-deficient hyperphenylalaninemia inborn disorder of amino acid metabolism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0850618 MONDO:0005119 True injection anthrax anthrax infection UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0850812 MONDO:0003778 True dendritic cell deficiency inborn error of immunity UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0851095 MONDO:0000426 True KINSSHIP syndrome autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0851095 MONDO:0002254 True KINSSHIP syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0851100 MONDO:0002433 True malignant olfactory nerve neoplasm malignant cranial nerve neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0851102 MONDO:0000473 True pulmonary artery disease arterial disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0851102 MONDO:0005275 True pulmonary artery disease lung disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0851103 MONDO:0002263 True Bartholin's gland disease female reproductive system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0851105 MONDO:0000629 True cerebrovascular benign neoplasm cardiovascular organ benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0858910 MONDO:0000812 True dropped head syndrome vertebral column disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0858916 MONDO:0002109 True pituitary blastoma pituitary cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0858916 MONDO:0005565 True pituitary blastoma blastoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0858917 MONDO:0003164 True cauda equina neuroendocrine tumor cauda equina neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0858921 MONDO:0006974 True EWSR1-negative small round cell tumor small cell sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0858926 MONDO:0002254 True developmental delay, hypotrophy, and dysmorphic features without moebius syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0858939 MONDO:0100342 True diffuse pediatric-type high-grade glioma, H3-wildtype and IDH-wildtype malignant glioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0858940 MONDO:0021636 True infant-type hemispheric glioma astrocytic tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0858944 MONDO:0000628 True myxoid glioneuronal tumor central nervous system organ benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0858956 MONDO:0000628 True diffuse leptomeningeal glioneuronal tumor central nervous system organ benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0858957 MONDO:0000628 True multinodular and vacuolating neuronal tumor central nervous system organ benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0858958 MONDO:0016684 True high-grade astrocytoma with piloid features anaplastic astrocytoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0858959 MONDO:0000628 True polymorphous low grade neuroepithelial tumor of the young central nervous system organ benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0858960 MONDO:0003257 True spindle cell oncocytoma posterior pituitary gland neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0858966 MONDO:0000640 True central nervous system tumor with bcor internal tandem duplication central nervous system primitive neuroectodermal neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0858967 MONDO:0002216 True primary intracranial sarcoma, DICER1-mutant brain sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0858974 MONDO:0002254 True breast implant illness syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0858974 MONDO:0002657 True breast implant illness breast disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0858989 MONDO:0015150 True autosomal recessive spastic paraplegia type 84 complex hereditary spastic paraplegia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0858990 MONDO:0015150 True autosomal recessive spastic paraplegia type 85 complex hereditary spastic paraplegia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0858991 MONDO:0015150 True autosomal recessive spastic paraplegia type 86 complex hereditary spastic paraplegia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0858992 MONDO:0019064 True autosomal recessive spastic paraplegia type 87 hereditary spastic paraplegia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0858998 MONDO:0015159 True mesomelic dysplasia-digital anomalies-intellectual disability syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0858998 MONDO:0018230 True mesomelic dysplasia-digital anomalies-intellectual disability syndrome skeletal dysplasia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0858999 MONDO:0015159 True KDM3B-related intellectual disability-facial dysmorphism-short stature syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0859001 MONDO:0018354 True CPE-related Prader-Willi-like syndrome Prader-Willi-like syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0859002 MONDO:0015159 True intellectual disability-early-onset cataract-microcephaly syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0859003 MONDO:0019236 True PAICS deficiency inborn disorder of purine metabolism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0859005 MONDO:0018234 True preaxial digit brachydactyly-webbed fingers dysostosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0859006 MONDO:0018234 True proximal femoral focal deficiency dysostosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0859007 MONDO:0019289 True mosaic Legius syndrome hyperpigmentation of the skin UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0859008 MONDO:0015356 True neurofibromatosis/schwannomatosis hereditary neoplastic syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0859086 MONDO:0019181 True intellectual developmental disorder, X-linked 110 non-syndromic X-linked intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0859160 MONDO:0033885 True Mitochondrial complex IV deficiency, nuclear type 22 mitochondrial complex IV deficiency, nuclear-type UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0859171 MONDO:0003847 True Luo-Schoch-Yamamoto syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0859192 MONDO:0031037 True cerebral cavernous malformation 4 famililal cerebral cavernous malformations UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0859197 MONDO:0003847 True intellectual developmental disorder with hypotonia, impaired speech, and dysmorphic facies hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0859208 MONDO:0003847 True Hengel-Maroofian-Schols syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0859228 MONDO:0000732 True combined oxidative phosphorylation deficiency 55 combined oxidative phosphorylation deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0859234 MONDO:0015977 True agammaglobulinemia 8b, autosomal recessive agammaglobulinemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED +MONDO:0859237 MONDO:0017359 True 3-methylglutaconic aciduria, type VIIA 3-methylglutaconic aciduria UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED +MONDO:0859242 MONDO:0019046 True leukodystrophy, hypomyelinating, 24 leukodystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0859245 MONDO:0015244 True spinocerebellar ataxia, autosomal recessive 32 autosomal recessive cerebellar ataxia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0859264 MONDO:0019952 True congenital myopathy 11 congenital myopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0859279 MONDO:0015363 True spinal muscular atrophy, distal, autosomal recessive, 6 neuronopathy, distal hereditary motor, autosomal recessive UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0859280 MONDO:0003847 True developmental delay, hypotonia, and impaired language hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0859300 MONDO:0015362 True neuronopathy, distal hereditary motor, autosomal dominant 10 neuronopathy, distal hereditary motor, autosomal dominant UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0859308 MONDO:0019200 True retinitis pigmentosa 95 retinitis pigmentosa UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0859309 MONDO:0019064 True spastic paraplegia 88, autosomal dominant hereditary spastic paraplegia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0859311 MONDO:0015626 True Charcot-Marie-Tooth disease, demyelinating, type 1J Charcot-Marie-Tooth disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0859314 MONDO:0100062 True developmental and epileptic encephalopathy 108 developmental and epileptic encephalopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0859319 MONDO:0015780 True dyskeratosis congenita, autosomal recessive 8 dyskeratosis congenita UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0859320 MONDO:0100223 True mitochondrial complex I deficiency, nuclear type 39 mitochondrial complex I deficiency, nuclear type UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0859321 MONDO:0020811 True mitochondrial complex 3 deficiency, nuclear type 11 mitochondrial complex III deficiency, nuclear type UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0859323 MONDO:0000732 True combined oxidative phosphorylation deficiency 56 combined oxidative phosphorylation deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0859325 MONDO:0100062 True developmental and epileptic encephalopathy 109 developmental and epileptic encephalopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0859327 MONDO:0100062 True developmental and epileptic encephalopathy 110 developmental and epileptic encephalopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0859328 MONDO:0018100 True hypomagnesemia 7, renal, with or without dilated cardiomyopathy familial primary hypomagnesemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0859329 MONDO:0000141 True mosaic variegated aneuploidy syndrome 4 mosaic variegated aneuploidy syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0859330 MONDO:0014769 True oocyte maturation defect 13 inherited oocyte maturation defect UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0859332 MONDO:0000904 True cortical dysplasia, complex, with other brain malformations 11 complex cortical dysplasia with other brain malformations UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0859333 MONDO:0100172 True intellectual developmental disorder, autosomal dominant 70 intellectual disability, autosomal dominant UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0859334 MONDO:0020380 True spinocerebellar ataxia 50 autosomal dominant cerebellar ataxia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0859335 MONDO:0019952 True congenital myopathy 15 congenital myopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0859337 MONDO:0000732 True combined oxidative phosphorylation deficiency 57 combined oxidative phosphorylation deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0859338 MONDO:0004983 True spermatogenic failure 78 spermatogenic failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0859339 MONDO:0005486 True tooth agenesis, selective, 10 tooth agenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0859340 MONDO:0020380 True spinocerebellar ataxia 27B, late-onset autosomal dominant cerebellar ataxia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0859341 MONDO:0003037 True hypotrichosis 15 hypotrichosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0859342 MONDO:0016660 True microcephaly 30, primary, autosomal recessive autosomal recessive primary microcephaly UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0859346 MONDO:0000141 True mosaic variegated aneuploidy syndrome 7 with inflammation and tumor predisposition mosaic variegated aneuploidy syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0859352 MONDO:0004983 True spermatogenic failure 79 spermatogenic failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0859353 MONDO:0016575 True ciliary dyskinesia, primary, 49, without situs inversus primary ciliary dyskinesia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0859354 MONDO:0031432 True thyroid hormone metabolism, abnormal, 3 thyroid hormone metabolism, abnormal UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0859356 MONDO:0005501 True congenital disorder of glycosylation, type IIy congenital disorder of glycosylation type II UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0859357 MONDO:0005501 True congenital disorder of glycosylation, type IIz congenital disorder of glycosylation type II UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0859358 MONDO:0016333 True cardiomyopathy, dilated, 2H familial dilated cardiomyopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0859360 MONDO:0015244 True spinocerebellar ataxia, autosomal recessive 33 autosomal recessive cerebellar ataxia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0859362 MONDO:0005803 True hyperinsulinemic hypoglycemia, familial, 8 hyperinsulinemic hypoglycemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0859363 MONDO:0019064 True spastic paraplegia 79A, autosomal dominant, with ataxia hereditary spastic paraplegia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0859364 MONDO:0004983 True spermatogenic failure 80 spermatogenic failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0859366 MONDO:0019587 True hearing loss, autosomal dominant 85 autosomal dominant nonsyndromic hearing loss UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0859367 MONDO:0019200 True retinitis pigmentosa 96 retinitis pigmentosa UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0859372 MONDO:0024573 True cardiomyopathy, familial hypertrophic, 29, with polyglucosan bodies familial hypertrophic cardiomyopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0859373 MONDO:0019502 True intellectual developmental disorder, autosomal recessive 78 autosomal recessive non-syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0859374 MONDO:0019588 True hearing loss, autosomal recessive 120 hearing loss, autosomal recessive UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0859378 MONDO:0019046 True leukodystrophy, hypomyelinating, 25 leukodystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0859379 MONDO:0019313 True lymphatic malformation 13 lymphatic malformation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0859380 MONDO:0044202 True episodic kinesigenic dyskinesia 3 episodic kinesigenic dyskinesia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0859381 MONDO:0016333 True cardiomyopathy, dilated, 100 familial dilated cardiomyopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0859382 MONDO:0005129 True cataract 50 with or without glaucoma cataract UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0859477 MONDO:0004983 True spermatogenic failure, X-linked, 5 spermatogenic failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0859478 MONDO:0004983 True spermatogenic failure, X-linked, 6 spermatogenic failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0859514 MONDO:0019952 True congenital myopathy 18 congenital myopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0859515 MONDO:0019952 True congenital myopathy 10b, mild variant congenital myopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0859517 MONDO:0019952 True congenital myopathy 2b, severe infantile, autosomal recessive congenital myopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0859518 MONDO:0019046 True leukodystrophy, hypomyelinating, 26, with chondrodysplasia leukodystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0859520 MONDO:0033885 True Mitochondrial complex IV deficiency, nuclear type 23 mitochondrial complex IV deficiency, nuclear-type UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0859521 MONDO:0014769 True oocyte maturation defect 14 inherited oocyte maturation defect UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0859522 MONDO:0004983 True spermatogenic failure 81 spermatogenic failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0859523 MONDO:0019952 True congenital myopathy 2c, severe infantile, autosomal dominant congenital myopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0859524 MONDO:0019587 True hearing loss, autosomal dominant 86 autosomal dominant nonsyndromic hearing loss UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0859525 MONDO:0019587 True hearing loss, autosomal dominant 87 autosomal dominant nonsyndromic hearing loss UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0859526 MONDO:0021094 True immunodeficiency 109 with lymphoproliferation immunodeficiency disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0859527 MONDO:0019587 True hearing loss, autosomal dominant 88 autosomal dominant nonsyndromic hearing loss UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0859528 MONDO:0019587 True hearing loss, autosomal dominant 89 autosomal dominant nonsyndromic hearing loss UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0859529 MONDO:0005144 True amyotrophic lateral sclerosis 27, juvenile familial amyotrophic lateral sclerosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0859564 MONDO:0859390 True epilepsy, X-linked 2, with or without impaired intellectual development and dysmorphic features epilepsy, X-linked, with or without impaired intellectual development and dysmorphic features UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0859565 MONDO:0020290 True atrioventricular septal defect familial atrioventricular septal defect UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0859567 MONDO:0031329 True craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development syndrome 2 craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0859568 MONDO:0031166 True macular dystrophy, retinal, 4 macular dystrophy, retinal UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0859569 MONDO:0031646 True braddock-carey syndrome 1 Braddock-Carey syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0859570 MONDO:0031646 True braddock-carey syndrome 2 Braddock-Carey syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0859571 MONDO:0005711 True diaphragmatic hernia 4, with cardiovascular defects congenital diaphragmatic hernia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0859572 MONDO:0031323 True cardiac valvular dysplasia 2 cardiac valvular defect UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0859573 MONDO:0031615 True bent bone dysplasia syndrome 2 familial bent bone dysplasia syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0859574 MONDO:0011870 True ichthyosis, annular epidermolytic, 2 annular epidermolytic ichthyosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0859575 MONDO:0000141 True Atelis syndrome 1 mosaic variegated aneuploidy syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0859575 MONDO:0859393 True Atelis syndrome 1 Atelis syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0859576 MONDO:0000141 True Atelis syndrome 2 mosaic variegated aneuploidy syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0859576 MONDO:0859393 True Atelis syndrome 2 Atelis syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0859577 MONDO:0007872 True lacrimoauriculodentodigital syndrome 2 LADD syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0859578 MONDO:0007872 True lacrimoauriculodentodigital syndrome 3 LADD syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0859588 MONDO:0018855 True keratosis pilaris atrophicans faciei keratosis pilaris atrophicans UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0859591 MONDO:0021637 True childhood low-grade glioma low grade glioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0859592 MONDO:0016696 True IDH-mutant and 1p/19q-codeleted oligodendroglioma anaplastic oligodendroglioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0859597 MONDO:0002900 True cns neuroblastoma with FOXR2 activation cerebral neuroblastoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0859598 MONDO:0017858 True erythroleukemia acute erythroid leukemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0859614 MONDO:0021637 True diffuse low-grade glioma, MAPK pathway–altered low grade glioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0859615 MONDO:0016686 True diffuse astrocytoma, MYB- or MYBL1-altered diffuse astrocytoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0859689 MONDO:0000385 True hepatobiliary benign neoplasm benign digestive system neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0859690 MONDO:0850125 True malignant cystadenoma malignant adenoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0859692 MONDO:0016593 True immune-mediated cerebellar ataxia acquired ataxia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0859747 MONDO:0019466 True grade I lymphomatoid granulomatosis lymphomatoid granulomatosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0859748 MONDO:0019466 True grade II lymphomatoid granulomatosis lymphomatoid granulomatosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0859749 MONDO:0019466 True grade III lymphomatoid granulomatosis lymphomatoid granulomatosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0859761 MONDO:0859000 True SLC12A2-related autosomal recessive neonatal-developmental delay-intellectual disability-feeding difficulty-sensorineural deafness syndrome SLC12A2-related developmental delay-intellectual disability-sensorineural deafness syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0859762 MONDO:0859000 True SLC12A2-related autosomal dominant infantile-developmental delay-intellectual disability-sensorineural deafness syndrome SLC12A2-related developmental delay-intellectual disability-sensorineural deafness syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0859763 MONDO:0859008 True mosaic neurofibromatosis type 1 neurofibromatosis/schwannomatosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0859764 MONDO:0859008 True mosaic NF2-related schwannomatosis neurofibromatosis/schwannomatosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0859765 MONDO:0859008 True mosaic schwannomatosis neurofibromatosis/schwannomatosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0957111 MONDO:0019119 True neurological muscular channelopathy due to a genetic sodium channel defect muscular channelopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0957112 MONDO:0019119 True neurological muscular channelopathy due to a genetic chloride channel defect muscular channelopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0957113 MONDO:0019119 True neurological muscular channelopathy due to a genetic calcium channel defect muscular channelopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0957114 MONDO:0019119 True neurological muscular channelopathy due to a genetic potassium channel defect muscular channelopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0957115 MONDO:0019119 True neurological muscular channelopathy due to a genetic ryanodine receptor defect muscular channelopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0957202 MONDO:0004983 True spermatogenic failure, X-linked, 7 spermatogenic failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0957203 MONDO:0019181 True intellectual developmental disorder, X-linked 111 non-syndromic X-linked intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0957208 MONDO:0013099 True pituitary hormone deficiency, combined or isolated, 8 combined pituitary hormone deficiencies, genetic form UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0957215 MONDO:0019952 True congenital myopathy 20 congenital myopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0957216 MONDO:0019852 True premature ovarian failure 21 inherited primary ovarian failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0957217 MONDO:0000904 True cortical dysplasia, complex, with other brain malformations 12 complex cortical dysplasia with other brain malformations UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0957220 MONDO:0014769 True oocyte/zygote/embryo maturation arrest 17 inherited oocyte maturation defect UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0957221 MONDO:0019064 True spastic paraplegia 70, autosomal recessive hereditary spastic paraplegia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0957224 MONDO:0019952 True congenital myopathy 21 with early respiratory failure congenital myopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0957228 MONDO:0100172 True intellectual developmental disorder, autosomal dominant 71, with behavioral abnormalities intellectual disability, autosomal dominant UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0957229 MONDO:0021094 True hatipoglu immunodeficiency syndrome immunodeficiency disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0957230 MONDO:0014769 True oocyte/zygote/embryo maturation arrest 18 inherited oocyte maturation defect UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0957231 MONDO:0014769 True oocyte/zygote/embryo maturation arrest 19 inherited oocyte maturation defect UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0957240 MONDO:0015993 True cone-rod dystrophy 24 cone-rod dystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0957247 MONDO:0019952 True congenital myopathy 22A, classic congenital myopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0957248 MONDO:0100062 True developmental and epileptic encephalopathy 31B developmental and epileptic encephalopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0957249 MONDO:0004983 True spermatogenic failure 82 spermatogenic failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0957250 MONDO:0004983 True spermatogenic failure 83 spermatogenic failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0957252 MONDO:0016575 True ciliary dyskinesia, primary, 50 primary ciliary dyskinesia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0957253 MONDO:0000824 True diarrhea 13 congenital diarrhea UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0957254 MONDO:0014471 True mitochondrial complex V (ATP synthase) deficiency, nuclear type 4A mitochondrial proton-transporting ATP synthase complex deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0957255 MONDO:0014471 True mitochondrial complex V (ATP synthase) deficiency, nuclear type 7 mitochondrial proton-transporting ATP synthase complex deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0957261 MONDO:0000148 True pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 7 pulmonary fibrosis and/or bone marrow failure, telomere-related UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0957262 MONDO:0019026 True osteopetrosis, autosomal recessive 9 autosomal recessive osteopetrosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0957263 MONDO:0000148 True pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 8 pulmonary fibrosis and/or bone marrow failure, telomere-related UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0957264 MONDO:0012815 True cerebroretinal microangiopathy with calcifications and cysts 3 Coats plus syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0957265 MONDO:0019952 True congenital myopathy 22B, severe fetal congenital myopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0957270 MONDO:0015152 True muscular dystrophy, limb-girdle, autosomal recessive 28 autosomal recessive limb-girdle muscular dystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0957274 MONDO:0019064 True spastic paraplegia 89, autosomal recessive hereditary spastic paraplegia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0957278 MONDO:0014769 True oocyte/zygote/embryo maturation arrest 20 inherited oocyte maturation defect UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0957281 MONDO:0018958 True nemaline myopathy 5B, autosomal recessive, childhood-onset nemaline myopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0957284 MONDO:0018958 True nemaline myopathy 5C, autosomal dominant nemaline myopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0957288 MONDO:0019502 True intellectual developmental disorder, autosomal recessive 79 autosomal recessive non-syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0957294 MONDO:0000148 True pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 9 pulmonary fibrosis and/or bone marrow failure, telomere-related UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0957301 MONDO:0004983 True spermatogenic failure 84 spermatogenic failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0957308 MONDO:0019064 True spastic paraplegia 90A, autosomal dominant hereditary spastic paraplegia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0957309 MONDO:0019064 True spastic paraplegia 90B, autosomal recessive hereditary spastic paraplegia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0957382 MONDO:0017338 True multiple mitochondrial dysfunctions syndrome 7 fatal multiple mitochondrial dysfunctions syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0957385 MONDO:0044807 True dystonia 37, early-onset, with striatal lesions inherited dystonia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0957388 MONDO:0000213 True autoimmune disease, multisystem, infantile-onset, 3 autoimmune disease, multisystem, infantile-onset UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0957396 MONDO:0016575 True ciliary dyskinesia, primary, 51 primary ciliary dyskinesia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0957397 MONDO:0100172 True intellectual developmental disorder, autosomal dominant 72 intellectual disability, autosomal dominant UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0957421 MONDO:0006009 True borna virus encephalitis viral encephalitis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0957426 MONDO:0018037 True autosomal recessive hyper-IgE syndrome hyper-IgE syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0957442 MONDO:0100309 True autosomal recessive ataxia due to PEX16 deficiency hereditary ataxia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0957443 MONDO:0100309 True autosomal recessive ataxia due to PEX2 deficiency hereditary ataxia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0957451 MONDO:0017077 True non-terminal myelocystocele myelocystocele UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0957453 MONDO:0019773 True true myelomeningocele myelomeningocele UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0957454 MONDO:0019773 True hemi-myelomeningocele myelomeningocele UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0957456 MONDO:0016367 True classical dermatomyositis dermatomyositis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0957458 MONDO:0016367 True adermatopathic dermatomyositis dermatomyositis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0957461 MONDO:0018076 True primary tuberculous lymphadenitis tuberculosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0957463 MONDO:0018076 True primary bone and joint tuberculosis tuberculosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0957465 MONDO:0018076 True multifocal tuberculosis tuberculosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0957466 MONDO:0018076 True primary tuberculosis of the digestive system tuberculosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0957476 MONDO:0019356 True isolated persistent urogenital sinus urogenital tract malformation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0957495 MONDO:0957097 True hemolytic uremic syndrome, atypical, 8, with rhizomelic short stature hereditary hemolytic uremic syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0957496 MONDO:0019181 True intellectual developmental disorder, X-linked 112 non-syndromic X-linked intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0957530 MONDO:0100526 True breast-ovarian cancer, familial, susceptibility to, 5 breast-ovarian cancer, familial, susceptibility to UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0957533 MONDO:0000137 True megalencephalic leukoencephalopathy with subcortical cysts 3 leukoencephalopathy, megalencephalic UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0957534 MONDO:0000137 True megalencephalic leukoencephalopathy with subcortical cysts 4, remitting leukoencephalopathy, megalencephalic UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0957535 MONDO:0021094 True immunodeficiency 112 immunodeficiency disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0957537 MONDO:0000732 True combined oxidative phosphorylation deficiency 58 combined oxidative phosphorylation deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0957538 MONDO:0005144 True amyotrophic lateral sclerosis 28 familial amyotrophic lateral sclerosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0957539 MONDO:0044807 True dystonia 22, juvenile-onset inherited dystonia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0957540 MONDO:0005501 True congenital disorder of glycosylation, type IIaa congenital disorder of glycosylation type II UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0957542 MONDO:0044807 True dystonia 22, adult-onset inherited dystonia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0957543 MONDO:0000107 True auriculocondylar syndrome 4 auriculocondylar syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0957544 MONDO:0000107 True auriculocondylar syndrome 2B auriculocondylar syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0957545 MONDO:0016333 True cardiomyopathy, dilated, 2I familial dilated cardiomyopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0957556 MONDO:0017864 True congenital pulmonary vein atresia congenital pulmonary veins atresia or stenosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:8000006 MONDO:0015134 True WHIM syndrome 1 constitutional neutropenia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:8000006 MONDO:0023880 True WHIM syndrome 1 WHIM syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:8000008 MONDO:0015159 True Martsolf syndrome 1 multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:8000008 MONDO:0015770 True Martsolf syndrome 1 congenital hypogonadotropic hypogonadism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:8000008 MONDO:0023910 True Martsolf syndrome 1 Martsolf syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:8000010 MONDO:0002254 True antiphospholipid syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:8000010 MONDO:0007179 True antiphospholipid syndrome autoimmune disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:8000011 MONDO:0000858 True visceral neuropathy, familial, 1, autosomal recessive neuronal intestinal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:8000011 MONDO:0017574 True visceral neuropathy, familial, 1, autosomal recessive chronic intestinal pseudoobstruction UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:8000011 MONDO:0023961 True visceral neuropathy, familial, 1, autosomal recessive visceral neuropathy, familial UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:8000012 MONDO:0024189 True neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset 1 neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:8000013 MONDO:0024193 True portal hypertension, noncirrhotic, 1 portal hypertension, noncirrhotic UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:8000015 MONDO:0010765 True 46,XY sex reversal 11 46,XY complete gonadal dysgenesis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:8000023 MONDO:0017979 True type 3 autoimmune lymphoproliferative syndrome autoimmune lymphoproliferative syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000004 MONDO:0002816 False adrenocortical insufficiency adrenal cortex disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:8000018 MONDO:0004900 True benign paroxysmal positional vertigo peripheral vertigo UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:8000024 MONDO:0017979 True autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD autoimmune lymphoproliferative syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0000005 MONDO:0004907 False alopecia, isolated alopecia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0000005 MONDO:0100118 False alopecia, isolated hereditary skin disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0000009 MONDO:0002243 False inherited bleeding disorder, platelet-type hemorrhagic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0000009 MONDO:0002245 False inherited bleeding disorder, platelet-type blood platelet disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0000009 MONDO:0003847 False inherited bleeding disorder, platelet-type hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0000015 MONDO:0003832 False classic complement early component deficiency complement deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0000022 MONDO:0024290 False nocturnal enuresis enuresis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0000023 MONDO:0003847 False infantile liver failure hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0000023 MONDO:0100192 False infantile liver failure liver failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0000030 MONDO:0002612 False sleep-related hypermotor epilepsy frontal lobe epilepsy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -10692,11 +18743,11 @@ MONDO:0000045 MONDO:0003847 False hypothyroidism, congenital, nongoitrous heredi MONDO:0000045 MONDO:0018612 False hypothyroidism, congenital, nongoitrous congenital hypothyroidism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0000050 MONDO:0013099 False isolated congenital growth hormone deficiency combined pituitary hormone deficiencies, genetic form UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0000062 MONDO:0003847 False isolated microphthalmia hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0000062 MONDO:0021129 False isolated microphthalmia microphthalmia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0000065 MONDO:0020573 False microvascular complications of diabetes, susceptibility inherited disease susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0000078 MONDO:0019796 False acrocephalopolysyndactyly acrocephalosyndactyly UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0000079 MONDO:0005298 False nephrolithiasis/osteoporosis, hypophosphatemic osteoporosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS MONDO:0000082 MONDO:0005039 False pelvic organ prolapse reproductive system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0000087 MONDO:0002320 False polymicrogyria congenital nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0000088 MONDO:0002259 False precocious puberty gonadal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0000088 MONDO:0021147 False precocious puberty disorder of development or morphogenesis UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0000090 MONDO:0005181 False progressive external ophthalmoplegia with mitochondrial DNA deletions progressive external ophthalmoplegia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -10704,34 +18755,28 @@ MONDO:0000104 MONDO:0000387 False anemia, hypochromic microcytic with iron overl MONDO:0000104 MONDO:0003847 False anemia, hypochromic microcytic with iron overload hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0000107 MONDO:0007500 False auriculocondylar syndrome ear malformation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0000108 MONDO:0015979 False bacteremia, susceptibility hereditary predisposition to infections UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000110 MONDO:0015411 False bifid nose facial cleft UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0000110 MONDO:0024623 False bifid nose otorhinolaryngologic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0000115 MONDO:0003847 False Chiari malformation hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0000118 MONDO:0019288 False reticulate pigment disorder skin pigmentation disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0000118 MONDO:0100118 False reticulate pigment disorder hereditary skin disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000127 MONDO:0019695 False geleophysic dysplasia acromelic dysplasia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0000128 MONDO:0004183 False giant axonal neuropathy axonal neuropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0000128 MONDO:0020127 False giant axonal neuropathy hereditary peripheral neuropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0000129 MONDO:0005066 False glutaric aciduria metabolic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000133 MONDO:0006025 False immunodeficiency-centromeric instability-facial anomalies syndrome autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0000133 MONDO:0100137 False immunodeficiency-centromeric instability-facial anomalies syndrome telomere syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0000136 MONDO:0006566 False keratosis follicularis spinulosa decalvans keratosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0000136 MONDO:0018855 False keratosis follicularis spinulosa decalvans keratosis pilaris atrophicans UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0000136 MONDO:0800159 False keratosis follicularis spinulosa decalvans disorder of polyamine metabolism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0000137 MONDO:0003847 False leukoencephalopathy, megalencephalic hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0000137 MONDO:0005560 False leukoencephalopathy, megalencephalic brain disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0000138 MONDO:0009943 False metaphyseal chondrodysplasia Pyle disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000141 MONDO:0015356 False mosaic variegated aneuploidy syndrome hereditary neoplastic syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000141 MONDO:0019040 False mosaic variegated aneuploidy syndrome chromosomal disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0000148 MONDO:0002771 False pulmonary fibrosis and/or bone marrow failure, telomere-related pulmonary fibrosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0000148 MONDO:0003847 False pulmonary fibrosis and/or bone marrow failure, telomere-related hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0000148 MONDO:0100137 False pulmonary fibrosis and/or bone marrow failure, telomere-related telomere syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0000151 MONDO:0005172 False symphalangism skeletal system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0000152 MONDO:0017578 False thiamine-responsive dysfunction syndrome disorder of thiamine metabolism and transport UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000153 MONDO:0019512 False transposition of the great arteries congenital heart malformation UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0000156 MONDO:0018234 False trigonocephaly dysostosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0000158 MONDO:0003847 False developmental dysplasia of the hip hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0000158 MONDO:0005497 False developmental dysplasia of the hip bone development disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0000159 MONDO:0003225 False bone marrow failure syndrome bone marrow disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0000159 MONDO:0003847 False bone marrow failure syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0000160 MONDO:0016022 False epilepsy, familial adult myoclonic early myoclonic encephalopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0000166 MONDO:0003847 False encephalopathy, acute, infection-induced hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -10741,14 +18786,9 @@ MONDO:0000166 MONDO:0021669 False encephalopathy, acute, infection-induced post- MONDO:0000169 MONDO:0000062 False microphthalmia, isolated, with cataract isolated microphthalmia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0000170 MONDO:0000062 False microphthalmia, isolated, with coloboma isolated microphthalmia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0000170 MONDO:0001476 False microphthalmia, isolated, with coloboma coloboma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000170 MONDO:0016764 False microphthalmia, isolated, with coloboma isolated anophthalmia-microphthalmia syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000171 MONDO:0018276 False muscular dystrophy-dystroglycanopathy, type A muscular dystrophy-dystroglycanopathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0000172 MONDO:0018276 False muscular dystrophy-dystroglycanopathy, type B muscular dystrophy-dystroglycanopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0000173 MONDO:0018276 False muscular dystrophy-dystroglycanopathy, type C muscular dystrophy-dystroglycanopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0000179 MONDO:0002051 False Neu-Laxova syndrome integumentary system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0000179 MONDO:0002254 False Neu-Laxova syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000179 MONDO:0015148 False Neu-Laxova syndrome lissencephaly type 3 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000179 MONDO:0015159 False Neu-Laxova syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0000179 MONDO:0015327 False Neu-Laxova syndrome developmental anomaly of metabolic origin UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0000179 MONDO:0018491 False Neu-Laxova syndrome 3-phosphoglycerate dehydrogenase deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0000181 MONDO:0001149 False microcephaly and chorioretinopathy microcephaly UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -10759,16 +18799,13 @@ MONDO:0000182 MONDO:0018940 False congenital myasthenic syndrome with tubular ag MONDO:0000188 MONDO:0015653 False GLUT1 deficiency syndrome monogenic epilepsy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0000188 MONDO:0019226 False GLUT1 deficiency syndrome glucose transport disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0000188 MONDO:0100033 False GLUT1 deficiency syndrome metabolic epilepsy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0000190 MONDO:0007263 False ventricular fibrillation cardiac rhythm disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0000192 MONDO:0005336 False polyglucosan body myopathy myopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0000192 MONDO:0700223 False polyglucosan body myopathy hereditary skeletal muscle disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0000193 MONDO:0002525 False cortisone reductase deficiency inherited lipid metabolism disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0000193 MONDO:0005039 False cortisone reductase deficiency reproductive system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0000193 MONDO:0015898 False cortisone reductase deficiency adrenogenital syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0000200 MONDO:0003847 False Zimmermann-Laband syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000208 MONDO:0800450 False microcephaly, short stature, and impaired glucose metabolism 1 microcephaly, short stature, and impaired glucose metabolism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0000209 MONDO:0002320 False prenatal-onset spinal muscular atrophy with congenital bone fractures congenital nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000209 MONDO:0015168 False prenatal-onset spinal muscular atrophy with congenital bone fractures arthrogryposis multiplex congenita UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING -MONDO:0000209 MONDO:0024257 False prenatal-onset spinal muscular atrophy with congenital bone fractures hereditary motor neuron disease UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0000210 MONDO:0019052 False thiopurine metabolic disease inborn errors of metabolism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0000211 MONDO:0003122 False striatal degeneration, autosomal dominant striatonigral degeneration UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0000212 MONDO:0001566 False hypercalcemia, infantile hypercalcemia disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -10776,125 +18813,69 @@ MONDO:0000212 MONDO:0006025 False hypercalcemia, infantile autosomal recessive d MONDO:0000212 MONDO:0019052 False hypercalcemia, infantile inborn errors of metabolism UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0000213 MONDO:0003847 False autoimmune disease, multisystem, infantile-onset hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0000213 MONDO:0007179 False autoimmune disease, multisystem, infantile-onset autoimmune disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING -MONDO:0000214 MONDO:0019052 False hypermanganesemia with dystonia inborn errors of metabolism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0000222 MONDO:0001027 False seminal vesicle acute gonorrhea gonococcal seminal vesiculitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0000222 MONDO:0020683 False seminal vesicle acute gonorrhea acute disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0000225 MONDO:0004805 False human monocytic ehrlichiosis leukocyte disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0000225 MONDO:0016003 False human monocytic ehrlichiosis ehrlichiosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0000227 MONDO:0001195 False African tick-bite fever spotted fever UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0000229 MONDO:0005677 False Indian tick typhus Rickettsia conorii infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0000230 MONDO:0005677 False Israeli tick typhus Rickettsia conorii infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0000231 MONDO:0005677 False Far eastern spotted fever Rickettsia conorii infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000232 MONDO:0001195 False Flinders island spotted fever spotted fever UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0000233 MONDO:0001195 False Japanese spotted fever spotted fever UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0000234 MONDO:0001195 False Rickettsia parkeri spotted fever spotted fever UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0000236 MONDO:0001701 False oropharyngeal anthrax gastrointestinal anthrax UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0000236 MONDO:0020592 False oropharyngeal anthrax disorder of pharynx UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0000236 MONDO:0043424 False oropharyngeal anthrax digestive system infectious disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000239 MONDO:0000308 False adiaspiromycosis primary systemic mycosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0000239 MONDO:0005766 False adiaspiromycosis fungal lung infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0000240 MONDO:0000266 False invasive aspergillosis pulmonary aspergilloma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0000241 MONDO:0004994 False Keshan disease cardiomyopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0000241 MONDO:0005721 False Keshan disease coxsackievirus infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000241 MONDO:0006873 False Keshan disease nutritional deficiency disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0000242 MONDO:0004678 False tinea barbae dermatophytosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0000243 MONDO:0004678 False ectothrix infectious disease dermatophytosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0000244 MONDO:0000253 False endothrix infectious disease piedra UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000244 MONDO:0004678 False endothrix infectious disease dermatophytosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0000245 MONDO:0001461 False tinea imbricata tinea corporis UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0000248 MONDO:0005358 False dengue shock syndrome Dengue hemorrhagic fever UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0000249 MONDO:0001673 False secretory diarrhea diarrheal disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0000250 MONDO:0045030 False osmotic diarrheal disease non-infectious diarrheal disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0000252 MONDO:0000888 False inflammatory diarrhea gastrointestinal mucositis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0000252 MONDO:0001673 False inflammatory diarrhea diarrheal disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0000252 MONDO:0002269 False inflammatory diarrhea gastroenteritis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0000253 MONDO:0002917 False piedra disorder of pilosebaceous unit UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0000253 MONDO:0024268 False piedra superficial mycosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0000253 MONDO:0024481 False piedra skin appendage disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000254 MONDO:0002041 False cutaneous mycosis fungal infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0000254 MONDO:0002051 False cutaneous mycosis integumentary system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0000255 MONDO:0000254 False subcutaneous mycosis cutaneous mycosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0000256 MONDO:0002041 False systemic mycosis fungal infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0000257 MONDO:0001673 False acute diarrhea diarrheal disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0000257 MONDO:0020683 False acute diarrhea acute disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000259 MONDO:0005502 False asymptomatic dengue dengue disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0000261 MONDO:0001039 False adenoiditis tonsillitis UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0000261 MONDO:0001040 False adenoiditis nasopharyngitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0000262 MONDO:0004795 False otomycosis otitis externa UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0000262 MONDO:0005982 False otomycosis tinea infection UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0000263 MONDO:0002647 False laryngotracheitis laryngitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0000263 MONDO:0005990 False laryngotracheitis tracheitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0000265 MONDO:0005275 False aspiration pneumonia lung disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0000266 MONDO:0005657 False pulmonary aspergilloma aspergillosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0000266 MONDO:0005766 False pulmonary aspergilloma fungal lung infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000270 MONDO:0005087 False lower respiratory tract disorder respiratory system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0000271 MONDO:0003619 False tuberculous salpingitis salpingitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0000271 MONDO:0006002 False tuberculous salpingitis urogenital tuberculosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0000273 MONDO:0019376 False Kunjin virus infectous disease West-Nile encephalitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0000276 MONDO:0005763 False Powassan encephalitis Flaviviridae infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0000276 MONDO:0006009 False Powassan encephalitis viral encephalitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0000276 MONDO:0025294 False Powassan encephalitis tick-borne infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000282 MONDO:0005108 False Whitewater Arroyo hemorrhagic fever viral infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0000282 MONDO:0100120 False Whitewater Arroyo hemorrhagic fever vector-borne disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000283 MONDO:0005784 False Hantavirus hemorrhagic fever with renal syndrome, Seoul virus type hantavirus hemorrhagic fever with renal syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0000283 MONDO:0100120 False Hantavirus hemorrhagic fever with renal syndrome, Seoul virus type vector-borne disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000284 MONDO:0005784 False Hantavirus hemorrhagic fever with renal syndrome, Puumala virus type hantavirus hemorrhagic fever with renal syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0000284 MONDO:0100120 False Hantavirus hemorrhagic fever with renal syndrome, Puumala virus type vector-borne disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0000286 MONDO:0005111 False Epstein-Barr virus hepatitis Epstein-Barr virus infection UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000286 MONDO:0006011 False Epstein-Barr virus hepatitis viral hepatitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0000286 MONDO:0024294 False Epstein-Barr virus hepatitis skin disorder caused by infection UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000288 MONDO:0005154 False polycystic echinococcosis liver disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0000288 MONDO:0005738 False polycystic echinococcosis echinococcosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0000288 MONDO:0043424 False polycystic echinococcosis digestive system infectious disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000290 MONDO:0002428 False primary amebic meningoencephalitis protozoa infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0000290 MONDO:0020067 False primary amebic meningoencephalitis infectious encephalitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000291 MONDO:0002428 False granulomatous amebic encephalitis protozoa infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0000291 MONDO:0020067 False granulomatous amebic encephalitis infectious encephalitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0000291 MONDO:0021747 False granulomatous amebic encephalitis Acanthamoeba infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0000292 MONDO:0005739 False philophthalmiasis echinostomiasis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0000293 MONDO:0000367 False coenurosis taeniasis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0000294 MONDO:0042488 False mesocestoidiasis Cestode infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000295 MONDO:0004664 False acanthocephaliasis helminthiasis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0000297 MONDO:0005656 False baylisascariasis Ascaridida infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0000298 MONDO:0005745 False dioctophymiasis Enoplea infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0000299 MONDO:0005943 False thelaziasis Rhabditida infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0000301 MONDO:0005805 False ophthalmomyiasis hypodermyiasis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0000302 MONDO:0019136 False basidiobolomycosis Zygomycosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0000303 MONDO:0000255 False conidiobolomycosis subcutaneous mycosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0000303 MONDO:0005982 False conidiobolomycosis tinea infection UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0000304 MONDO:0045033 False penicilliosis opportunistic systemic mycosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0000306 MONDO:0045033 False trichosporonosis opportunistic systemic mycosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000307 MONDO:0005135 False parasitic Ichthyosporea infectious disease parasitic infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0000308 MONDO:0000256 False primary systemic mycosis systemic mycosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0000309 MONDO:0004892 False aniseikonia refractive error UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0000310 MONDO:0017881 False Alkhurma hemorrhagic fever Kyasanur forest disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0000310 MONDO:0100120 False Alkhurma hemorrhagic fever vector-borne disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000313 MONDO:0002319 False hypophosphatemia phosphorus metabolism disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0000314 MONDO:0005113 False primary bacterial infectious disease bacterial infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0000315 MONDO:0005113 False commensal bacterial infectious disease bacterial infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0000316 MONDO:0005113 False opportunistic bacterial infectious disease bacterial infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0000320 MONDO:0004928 False glandular tularemia lymph node disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0000320 MONDO:0018077 False glandular tularemia tularemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0000321 MONDO:0018077 False typhoidal tularemia tularemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0000327 MONDO:0000314 False Buruli ulcer disease primary bacterial infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0000328 MONDO:0002319 False hyperphosphatemia phosphorus metabolism disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0000330 MONDO:0001246 False endemic typhus typhus UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0000331 MONDO:0001195 False Rickettsia helvetica spotted fever spotted fever UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0000327 MONDO:0020590 False Buruli ulcer disease mycobacterial infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0000331 MONDO:0025294 False Rickettsia helvetica spotted fever tick-borne infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000332 MONDO:0000314 False sennetsu fever primary bacterial infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0000332 MONDO:0024416 False sennetsu fever Neorickettsia infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000333 MONDO:0005714 False early congenital syphilis congenital syphilis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0000334 MONDO:0003847 False multinodular goiter hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0000335 MONDO:0004944 False parenchymatous neurosyphilis neurosyphilis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0000336 MONDO:0004944 False meningovascular neurosyphilis neurosyphilis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0000334 MONDO:0006869 False multinodular goiter nodular goiter UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0000337 MONDO:0006547 False exanthema subitum exanthem UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0000337 MONDO:0024294 False exanthema subitum skin disorder caused by infection UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000338 MONDO:0004651 False variola major infectious disease smallpox UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0000338 MONDO:0006547 False variola major infectious disease exanthem UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0000338 MONDO:0024294 False variola major infectious disease skin disorder caused by infection UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000339 MONDO:0000341 False spinal polio paralytic poliomyelitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0000340 MONDO:0000341 False bulbospinal polio paralytic poliomyelitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0000341 MONDO:0017373 False paralytic poliomyelitis poliomyelitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0000342 MONDO:0005643 False O'nyong'nyong fever Alphavirus infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0000342 MONDO:0100120 False O'nyong'nyong fever vector-borne disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0000343 MONDO:0005643 False Barmah forest virus disease Alphavirus infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -10902,1072 +18883,508 @@ MONDO:0000344 MONDO:0005643 False Ross river fever Alphavirus infectious disease MONDO:0000344 MONDO:0100120 False Ross river fever vector-borne disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0000345 MONDO:0021641 False Oropouche fever Bunyaviridae infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0000345 MONDO:0100120 False Oropouche fever vector-borne disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000346 MONDO:0005784 False Hantavirus hemorrhagic fever with renal syndrome, Dobrava-Belgrade virus type hantavirus hemorrhagic fever with renal syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0000346 MONDO:0100120 False Hantavirus hemorrhagic fever with renal syndrome, Dobrava-Belgrade virus type vector-borne disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000351 MONDO:0004736 False disorder of methionine catabolism inborn disorder of amino acid metabolism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0000351 MONDO:0019222 False disorder of methionine catabolism inborn disorder of methionine cycle and sulfur amino acid metabolism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0000351 MONDO:0037938 False disorder of methionine catabolism inborn disorder of aspartate family metabolism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000355 MONDO:0019950 False Ullrich congenital muscular dystrophy congenital muscular dystrophy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0000355 MONDO:0019952 False Ullrich congenital muscular dystrophy congenital myopathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS MONDO:0000358 MONDO:0003847 False orofacial cleft hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0000358 MONDO:0023369 False orofacial cleft disorder of facial skeleton UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000359 MONDO:0000812 False spondylocostal dysostosis vertebral column disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0000359 MONDO:0003847 False spondylocostal dysostosis hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0000363 MONDO:0004497 False gummatous syphilis tertiary syphilis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0000365 MONDO:0020366 False primary congenital glaucoma congenital glaucoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0000367 MONDO:0024271 False taeniasis intestinal helminthiasis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0000367 MONDO:0042488 False taeniasis Cestode infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000368 MONDO:0018076 False extrapulmonary tuberculosis tuberculosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0000369 MONDO:0000368 False abdominal tuberculosis extrapulmonary tuberculosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0000373 MONDO:0003220 False gall bladder carcinoma in situ gallbladder carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0000373 MONDO:0004647 False gall bladder carcinoma in situ in situ carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0000374 MONDO:0004715 False bile duct carcinoma in situ liver carcinoma in situ UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0000374 MONDO:0005496 False bile duct carcinoma in situ bile duct carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0000375 MONDO:0002806 False bronchus carcinoma in situ bronchogenic carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0000375 MONDO:0004660 False bronchus carcinoma in situ lung carcinoma in situ UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0000376 MONDO:0004992 False respiratory system cancer cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0000376 MONDO:0005087 False respiratory system cancer respiratory system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0000377 MONDO:0002149 False malignant Leydig cell tumor reproductive system cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0000378 MONDO:0002149 False malignant Sertoli cell tumor reproductive system cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0000380 MONDO:0002415 False paranasal sinus carcinoma bone carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0000381 MONDO:0004010 False infiltrating renal pelvis transitional cell carcinoma infiltrating renal pelvis/ureter urothelial carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000381 MONDO:0005221 False infiltrating renal pelvis transitional cell carcinoma renal pelvis urothelial carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0000382 MONDO:0005087 False respiratory system benign neoplasm respiratory system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0000382 MONDO:0005165 False respiratory system benign neoplasm benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0000387 MONDO:0001245 False hypochromic microcytic anemia microcytic anemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0000387 MONDO:0001357 False hypochromic microcytic anemia hypochromic anemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0000389 MONDO:0003847 False atelosteogenesis hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0000389 MONDO:0005516 False atelosteogenesis osteochondrodysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0000390 MONDO:0003004 False vitelliform macular dystrophy macular degeneration UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0000393 MONDO:0000408 False partial fetal alcohol syndrome fetal alcohol spectrum disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0000395 MONDO:0000408 False alcohol-related birth defect fetal alcohol spectrum disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0000405 MONDO:0005814 False anal canal cancer intestinal cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0000390 MONDO:0020242 False vitelliform macular dystrophy hereditary macular dystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0000405 MONDO:0024634 False anal canal cancer large intestine disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000407 MONDO:0006294 False malignant pleural solitary fibrous tumor pleural cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0000407 MONDO:0021041 False malignant pleural solitary fibrous tumor pleural solitary fibrous tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000408 MONDO:0000592 False fetal alcohol spectrum disorder specific developmental disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0000408 MONDO:0002326 False fetal alcohol spectrum disorder alcohol-induced mental disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0000408 MONDO:0021699 False fetal alcohol spectrum disorder alcohol-induced disorders UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0000409 MONDO:0005113 False chorioamnionitis bacterial infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0000409 MONDO:0021166 False chorioamnionitis inflammatory disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0000409 MONDO:0045013 False chorioamnionitis disorder of extraembryonic membrane UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0000410 MONDO:0021562 False funisitis omphalitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000411 MONDO:0005027 False electroclinical syndrome epilepsy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0000412 MONDO:0000411 False neonatal period electroclinical syndrome electroclinical syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0000413 MONDO:0000411 False infancy electroclinical syndrome electroclinical syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0000414 MONDO:0000411 False childhood electroclinical syndrome electroclinical syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0000415 MONDO:0000411 False adolescence-adult electroclinical syndrome electroclinical syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0000417 MONDO:0000414 False early onset absence epilepsy childhood electroclinical syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0000417 MONDO:0850093 False early onset absence epilepsy absence epilepsy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0000410 MONDO:0024575 False funisitis pregnancy disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0000421 MONDO:0019239 False inborn serine deficiency inborn disorder of serine family metabolism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000424 MONDO:0005528 False inborn vitamin B12 deficiency inborn vitamin metabolic disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0000424 MONDO:0020696 False inborn vitamin B12 deficiency vitamin B12 deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000426 MONDO:0000429 False autosomal dominant disease autosomal genetic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0000428 MONDO:0003847 False Y-linked disease hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0000429 MONDO:0003847 False autosomal genetic disease hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0000437 MONDO:0002427 False cerebellar ataxia cerebellar disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0000437 MONDO:0005395 False cerebellar ataxia movement disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0000437 MONDO:0100308 False cerebellar ataxia atactic disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0000440 MONDO:0006022 False metabolic acidosis acidosis disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000446 MONDO:0005516 False midface dysplasia osteochondrodysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0000447 MONDO:0000426 False autosomal dominant polycystic liver disease autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0000448 MONDO:0003847 False paraganglioma hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0000448 MONDO:0021635 False paraganglioma neurocristopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0000450 MONDO:0005284 False secondary progressive multiple sclerosis chronic progressive multiple sclerosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0000451 MONDO:0005284 False primary progressive multiple sclerosis chronic progressive multiple sclerosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0000452 MONDO:0005284 False progressive relapsing multiple sclerosis chronic progressive multiple sclerosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000453 MONDO:0000992 False short QT syndrome heart conduction disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0000453 MONDO:0003847 False short QT syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0000455 MONDO:0020242 False cone dystrophy hereditary macular dystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000456 MONDO:0004736 False cerebral creatine deficiency syndrome inborn disorder of amino acid metabolism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0000456 MONDO:0015653 False cerebral creatine deficiency syndrome monogenic epilepsy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0000456 MONDO:0019189 False cerebral creatine deficiency syndrome inborn disorder of amino acid and other organic acid metabolism UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000456 MONDO:0019243 False cerebral creatine deficiency syndrome inborn disorder of energy metabolism UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0000456 MONDO:0045022 False cerebral creatine deficiency syndrome disorder of organic acid metabolism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0000456 MONDO:0100033 False cerebral creatine deficiency syndrome metabolic epilepsy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0000461 MONDO:0020699 False nutritional biotin deficiency biotin metabolic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0000461 MONDO:0024298 False nutritional biotin deficiency vitamin deficiency disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0000462 MONDO:0002022 False eye adnexa disorder disorder of orbital region UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000463 MONDO:0006025 False Ochoa syndrome autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0000465 MONDO:0000992 False atrioventricular block heart conduction disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0000465 MONDO:0008848 False atrioventricular block atrioventricular dissociation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000466 MONDO:0000465 False first-degree atrioventricular block atrioventricular block UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0000467 MONDO:0000465 False second-degree atrioventricular block atrioventricular block UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0000468 MONDO:0000465 False third-degree atrioventricular block atrioventricular block UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0000469 MONDO:0000992 False sinoatrial node disorder heart conduction disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0000466 MONDO:0007263 False first-degree atrioventricular block cardiac rhythm disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0000467 MONDO:0007263 False second-degree atrioventricular block cardiac rhythm disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0000468 MONDO:0007263 False third-degree atrioventricular block cardiac rhythm disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0000469 MONDO:0005449 False sinoatrial node disorder conduction system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000470 MONDO:0005267 False endocardium disorder heart disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0000474 MONDO:0005267 False pericardium disorder heart disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0000476 MONDO:0015494 False generalized dystonia isolated dystonia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000477 MONDO:0003441 False focal dystonia dystonic disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0000478 MONDO:0003441 False multifocal dystonia dystonic disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0000479 MONDO:0003441 False segmental dystonia dystonic disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0000480 MONDO:0000477 False anismus focal dystonia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0000480 MONDO:0020120 False anismus skeletal muscle disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000481 MONDO:0000477 False cervical dystonia focal dystonia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0000482 MONDO:0000477 False focal hand dystonia focal dystonia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0000483 MONDO:0000477 False oculogyric crisis focal dystonia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0000485 MONDO:0000477 False spasmodic dystonia focal dystonia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0000485 MONDO:0004382 False spasmodic dystonia laryngeal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0000486 MONDO:0000477 False craniofacial dystonia focal dystonia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0000487 MONDO:0000478 False hemidystonia multifocal dystonia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0000488 MONDO:0021303 False periampullary adenoma adenoma of small intestine UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0000488 MONDO:0021375 False periampullary adenoma tumor of duodenum UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000489 MONDO:0005560 False diabetic encephalopathy brain disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0000490 MONDO:0019722 False glomerulosclerosis glomerular disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000491 MONDO:0005053 False limb ischemia ischemic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0000492 MONDO:0000945 False chronic venous insufficiency venous insufficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0000494 MONDO:0000490 False renal fibrosis glomerulosclerosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0000495 MONDO:0000592 False oppositional defiant disorder specific developmental disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0000497 MONDO:0002654 False pyometritis uterine disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0000498 MONDO:0006649 False arteritic anterior ischemic optic neuropathy anterior ischemic optic neuropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0000497 MONDO:0021166 False pyometritis inflammatory disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0000498 MONDO:0008538 False arteritic anterior ischemic optic neuropathy temporal arteritis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0000499 MONDO:0006649 False non-arteritic anterior ischemic optic neuropathy anterior ischemic optic neuropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0000502 MONDO:0024276 False villous adenoma glandular cell neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000503 MONDO:0004660 False lung adenocarcinoma in situ lung carcinoma in situ UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0000507 MONDO:0002254 False inclusion body myopathy with Paget disease of bone and frontotemporal dementia syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0000507 MONDO:0016112 False inclusion body myopathy with Paget disease of bone and frontotemporal dementia hereditary inclusion-body myopathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0000507 MONDO:0017276 False inclusion body myopathy with Paget disease of bone and frontotemporal dementia frontotemporal dementia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0000508 MONDO:0001071 False syndromic intellectual disability intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0000508 MONDO:0002254 False syndromic intellectual disability syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0000509 MONDO:0001071 False non-syndromic intellectual disability intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0000510 MONDO:0019052 False synucleinopathy inborn errors of metabolism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0000510 MONDO:0021179 False synucleinopathy proteostasis deficiencies UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0000510 MONDO:0024237 False synucleinopathy inherited neurodegenerative disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000513 MONDO:0000631 False bone ameloblastoma bone benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0000513 MONDO:0017795 False bone ameloblastoma ameloblastoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0000514 MONDO:0002415 False bone squamous cell carcinoma bone carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0000514 MONDO:0005096 False bone squamous cell carcinoma squamous cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0000515 MONDO:0002129 False bone chondrosarcoma bone cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0000515 MONDO:0008977 False bone chondrosarcoma chondrosarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0000516 MONDO:0000631 False phalanx chondroma bone benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0000516 MONDO:0002360 False phalanx chondroma chondroma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0000517 MONDO:0007959 False brain stem medulloblastoma medulloblastoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0000517 MONDO:0021228 False brain stem medulloblastoma brainstem neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000518 MONDO:0000812 False sacrum chordoma vertebral column disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0000518 MONDO:0002894 False sacrum chordoma spinal chordoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0000519 MONDO:0002544 False corpus callosum oligodendroglioma brain oligodendroglioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0000519 MONDO:0002731 False corpus callosum oligodendroglioma cerebral hemisphere cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0000520 MONDO:0001952 False parietal lobe ependymal tumor parietal lobe cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0000520 MONDO:0004245 False parietal lobe ependymal tumor ependymal tumor of brain UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0000521 MONDO:0044925 False salivary gland carcinoma oral cavity carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0000524 MONDO:0003113 False mixed extragonadal germ cell cancer extragonadal germ cell cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0000524 MONDO:0015864 False mixed extragonadal germ cell cancer mixed germ cell tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0000527 MONDO:0024479 False colon adenoma epithelial tumor of colon UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0000530 MONDO:0024476 False rectum adenoma epithelial neoplasm of rectum UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0000531 MONDO:0002806 False bronchus mucoepidermoid carcinoma bronchogenic carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0000531 MONDO:0005616 False bronchus mucoepidermoid carcinoma pulmonary mucoepidermoid carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0000532 MONDO:0003438 False lung combined type small cell adenocarcinoma combined small cell lung carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0000532 MONDO:0005061 False lung combined type small cell adenocarcinoma lung adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0000534 MONDO:0003036 False trachea mucoepidermoid carcinoma mucoepidermoid carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0000534 MONDO:0003184 False trachea mucoepidermoid carcinoma trachea carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0000535 MONDO:0021337 False tonsil squamous cell carcinoma tonsil carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0000535 MONDO:0044704 False tonsil squamous cell carcinoma oropharynx squamous cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0000539 MONDO:0002728 False striated muscle rhabdoid tumor rhabdoid tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0000539 MONDO:0003939 False striated muscle rhabdoid tumor muscle tissue disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0000539 MONDO:0005864 False striated muscle rhabdoid tumor muscle cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0000541 MONDO:0006815 False jejunal adenocarcinoma jejunal cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0000543 MONDO:0005191 False ovarian melanoma metastatic melanoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0000545 MONDO:0021070 False sublingual gland adenoid cystic carcinoma sublingual gland carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0000545 MONDO:0045063 False sublingual gland adenoid cystic carcinoma major salivary gland adenoid cystic carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000549 MONDO:0002749 False cervical neuroblastoma extracranial neuroblastoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0000549 MONDO:0021351 False cervical neuroblastoma neoplasm of neck UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0000551 MONDO:0005072 False retroperitoneal neuroblastoma neuroblastoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0000551 MONDO:0024645 False retroperitoneal neuroblastoma retroperitoneal neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0000553 MONDO:0002447 False uterine corpus endometrial carcinoma endometrial carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0000553 MONDO:0006003 False uterine corpus endometrial carcinoma uterine corpus cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0000554 MONDO:0004259 False endocervical adenocarcinoma endocervical carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0000563 MONDO:0020380 False GRID2-related autosomal dominant spinocerebellar ataxia autosomal dominant cerebellar ataxia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0000565 MONDO:0005550 False infective endocarditis infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0000568 MONDO:0002602 False autoimmune disorder of central nervous system central nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0000568 MONDO:0002977 False autoimmune disorder of central nervous system autoimmune disorder of the nervous system UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0000569 MONDO:0005151 False autoimmune disorder of endocrine system endocrine system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0000569 MONDO:0007179 False autoimmune disorder of endocrine system autoimmune disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0000572 MONDO:0015974 False recombinase activating gene 1 deficiency severe combined immunodeficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0000573 MONDO:0015974 False recombinase activating gene 2 deficiency severe combined immunodeficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0000583 MONDO:0002211 False immunoglobulin beta deficiency B cell deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0000584 MONDO:0015977 False B cell linker protein deficiency agammaglobulinemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0000586 MONDO:0007179 False autoimmune disorder of exocrine system autoimmune disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0000587 MONDO:0007179 False autoimmune disease of ear, nose and throat autoimmune disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0000577 MONDO:0002280 False congenital anemia anemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0000577 MONDO:0009332 False congenital anemia congenital hematological disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0000587 MONDO:0024623 False autoimmune disease of ear, nose and throat otorhinolaryngologic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000588 MONDO:0004335 False autoimmune disorder of gastrointestinal tract digestive system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0000588 MONDO:0007179 False autoimmune disorder of gastrointestinal tract autoimmune disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0000589 MONDO:0002081 False autoimmune disorder of musculoskeletal system musculoskeletal system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0000589 MONDO:0007179 False autoimmune disorder of musculoskeletal system autoimmune disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0000590 MONDO:0002977 False autoimmune disorder of peripheral nervous system autoimmune disorder of the nervous system UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0000590 MONDO:0003620 False autoimmune disorder of peripheral nervous system peripheral nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0000591 MONDO:0004994 False intrinsic cardiomyopathy cardiomyopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0000592 MONDO:0005503 False specific developmental disorder developmental disorder of mental health UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0000594 MONDO:0005503 False pervasive developmental disorder developmental disorder of mental health UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0000594 MONDO:0100038 False pervasive developmental disorder complex neurodevelopmental disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0000596 MONDO:0000947 False paraphilic disorder psychosexual disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0000597 MONDO:0002103 False Munchausen by proxy factitious disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0000598 MONDO:0004750 False aphasia language disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0000599 MONDO:0004681 False writing disorder learning disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0000600 MONDO:0012000 False nosophobia specific phobia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0000602 MONDO:0005570 False autoimmune disorder of blood hematologic disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0000602 MONDO:0007179 False autoimmune disorder of blood autoimmune disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0000603 MONDO:0004995 False autoimmune disorder of cardiovascular system cardiovascular disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0000603 MONDO:0007179 False autoimmune disorder of cardiovascular system autoimmune disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0000608 MONDO:0100191 False familial juvenile hyperuricemic nephropathy inherited kidney disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0000610 MONDO:0000831 False marantic endocarditis thrombotic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0000610 MONDO:0001531 False marantic endocarditis blood coagulation disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0000610 MONDO:0005025 False marantic endocarditis endocarditis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0000611 MONDO:0005070 False pre-malignant neoplasm neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0000611 MONDO:0021074 False pre-malignant neoplasm precancerous condition UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000612 MONDO:0000621 False lymphatic system cancer immune system cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0000612 MONDO:0005833 False lymphatic system cancer lymphatic system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0000615 MONDO:0006116 False progesterone-receptor positive breast cancer breast carcinoma by gene expression profile UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0000616 MONDO:0006116 False progesterone-receptor negative breast cancer breast carcinoma by gene expression profile UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0000618 MONDO:0006116 False Her2-receptor negative breast cancer breast carcinoma by gene expression profile UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000620 MONDO:0000634 False breast benign neoplasm thoracic benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0000621 MONDO:0004992 False immune system cancer cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0000621 MONDO:0005046 False immune system cancer immune system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0000626 MONDO:0000643 False vestibular gland benign neoplasm vulvar benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0000628 MONDO:0000648 False central nervous system organ benign neoplasm nervous system benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0000628 MONDO:0006130 False central nervous system organ benign neoplasm central nervous system neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000629 MONDO:0005165 False cardiovascular organ benign neoplasm benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0000629 MONDO:0024757 False cardiovascular organ benign neoplasm cardiovascular neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0000630 MONDO:0005046 False immune system organ benign neoplasm immune system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0000630 MONDO:0005165 False immune system organ benign neoplasm benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0000633 MONDO:0000648 False sensory organ benign neoplasm nervous system benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0000636 MONDO:0002081 False musculoskeletal system benign neoplasm musculoskeletal system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0000636 MONDO:0005165 False musculoskeletal system benign neoplasm benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0000637 MONDO:0002081 False musculoskeletal system cancer musculoskeletal system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0000637 MONDO:0004992 False musculoskeletal system cancer cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0000639 MONDO:0002129 False cartilage cancer bone cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0000640 MONDO:0005462 False central nervous system primitive neuroectodermal neoplasm primitive neuroectodermal tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0000642 MONDO:0016642 False brain meningioma meningioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0000642 MONDO:0021211 False brain meningioma brain neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000649 MONDO:0005872 False sensory system cancer nervous system cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0000652 MONDO:0002051 False integumentary system benign neoplasm integumentary system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0000652 MONDO:0005165 False integumentary system benign neoplasm benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0000653 MONDO:0002051 False integumentary system cancer integumentary system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0000653 MONDO:0004992 False integumentary system cancer cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0000654 MONDO:0000636 False benign connective and soft tissue neoplasm musculoskeletal system benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0000654 MONDO:0003900 False benign connective and soft tissue neoplasm connective tissue disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0000659 MONDO:0019464 False delta-heavy chain disease heavy chain disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0000660 MONDO:0005084 False akinetopsia mental disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000660 MONDO:0005638 False akinetopsia agnosia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0000660 MONDO:0019056 False akinetopsia neuromuscular disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0000661 MONDO:0005638 False alexithymia agnosia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0000662 MONDO:0005638 False amusia agnosia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0000663 MONDO:0005638 False anosognosia agnosia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0000664 MONDO:0000685 False apperceptive agnosia visual agnosia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0000665 MONDO:0024417 False apraxia perceptual disorders UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0000666 MONDO:0000685 False associative visual agnosia visual agnosia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0000667 MONDO:0005638 False auditory agnosia agnosia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0000667 MONDO:0024422 False auditory agnosia auditory perceptual disorders UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000668 MONDO:0005638 False autotopagnosia agnosia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0000669 MONDO:0000685 False color agnosia visual agnosia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0000670 MONDO:0000667 False cortical deafness auditory agnosia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0000671 MONDO:0005638 False finger agnosia agnosia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0000672 MONDO:0000685 False form agnosia visual agnosia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0000673 MONDO:0005638 False integrative agnosia agnosia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0000674 MONDO:0005638 False mirror agnosia agnosia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0000675 MONDO:0005084 False pain agnosia mental disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000675 MONDO:0005638 False pain agnosia agnosia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0000676 MONDO:0005638 False phonagnosia agnosia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0000677 MONDO:0005638 False semantic agnosia agnosia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0000678 MONDO:0005638 False simultanagnosia agnosia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0000679 MONDO:0005638 False social emotional agnosia agnosia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0000680 MONDO:0005638 False astereognosia agnosia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0000681 MONDO:0005084 False tactile agnosia mental disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000681 MONDO:0005638 False tactile agnosia agnosia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0000682 MONDO:0005638 False time agnosia agnosia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0000683 MONDO:0000685 False topographical agnosia visual agnosia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0000684 MONDO:0000667 False verbal auditory agnosia auditory agnosia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0000685 MONDO:0005084 False visual agnosia mental disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000685 MONDO:0005638 False visual agnosia agnosia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0000686 MONDO:0000685 False alexia without agraphia visual agnosia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0000687 MONDO:0005340 False diffuse alopecia areata alopecia areata UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0000688 MONDO:0004736 False inborn organic aciduria inborn disorder of amino acid metabolism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0000690 MONDO:0003117 False body dysmorphic disorder somatoform disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0000693 MONDO:0004985 False bipolar II disorder bipolar disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0000694 MONDO:0002050 False seasonal affective disorder depressive disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0000698 MONDO:0004736 False gamma-amino butyric acid metabolism disorder inborn disorder of amino acid metabolism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0000685 MONDO:0021084 False visual agnosia vision disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0000698 MONDO:0019189 False gamma-amino butyric acid metabolism disorder inborn disorder of amino acid and other organic acid metabolism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0000698 MONDO:0037871 False gamma-amino butyric acid metabolism disorder amino acid metabolism disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0000700 MONDO:0003847 False familial hemiplegic migraine hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0000700 MONDO:0018925 False familial hemiplegic migraine familial or sporadic hemiplegic migraine UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000701 MONDO:0005292 False ischemic colitis colitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0000701 MONDO:0005385 False ischemic colitis vascular disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0000706 MONDO:0005292 False chemical colitis colitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0000707 MONDO:0005292 False diversion colitis colitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0000705 MONDO:0005113 False Clostridium difficile colitis bacterial infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0000705 MONDO:0006039 False Clostridium difficile colitis infectious colitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0000708 MONDO:0000709 False Crohn jejunoileitis Crohn ileitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0000708 MONDO:0021207 False Crohn jejunoileitis Crohn jejunitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0000709 MONDO:0005539 False Crohn ileitis small bowel Crohn disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0000710 MONDO:0004627 False gastroduodenal Crohn disease duodenitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0000710 MONDO:0004966 False gastroduodenal Crohn disease gastritis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0000710 MONDO:0005539 False gastroduodenal Crohn disease small bowel Crohn disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000715 MONDO:0001082 False lymph node adenoid cystic carcinoma lymph node cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0000715 MONDO:0004971 False lymph node adenoid cystic carcinoma adenoid cystic carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0000716 MONDO:0000599 False agraphia writing disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0000721 MONDO:0005066 False xanthinuria metabolic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0000722 MONDO:0019530 False non-syndromic synpolydactyly non-syndromic syndactyly UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0000722 MONDO:0021651 False non-syndromic synpolydactyly synpolydactyly UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0000723 MONDO:0003847 False stutter disorder hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0000723 MONDO:0004730 False stutter disorder speech disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0000723 MONDO:0004750 False stutter disorder language disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0000724 MONDO:0003847 False specific language impairment hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0000724 MONDO:0004750 False specific language impairment language disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0000726 MONDO:0005392 False idiopathic scoliosis scoliosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0000726 MONDO:0700007 False idiopathic scoliosis idiopathic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0000727 MONDO:0016830 False scapuloperoneal myopathy Emery-Dreifuss muscular dystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0000728 MONDO:0005328 False ptosis eye disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0000732 MONDO:0016387 False combined oxidative phosphorylation deficiency mitochondrial oxidative phosphorylation disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000733 MONDO:0000942 False cornea plana corneal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0000733 MONDO:0003847 False cornea plana hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0000734 MONDO:0017393 False Ohdo syndrome and variants blepharophimosis - intellectual disability syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000736 MONDO:0019289 False dyschromatosis universalis hereditaria hyperpigmentation of the skin UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0000736 MONDO:0100118 False dyschromatosis universalis hereditaria hereditary skin disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000739 MONDO:0004867 False uvulitis upper respiratory tract disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0000739 MONDO:0006858 False uvulitis mouth disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0000739 MONDO:0021166 False uvulitis inflammatory disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000740 MONDO:0004867 False adenoid hypertrophy upper respiratory tract disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0000740 MONDO:0006858 False adenoid hypertrophy mouth disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0000743 MONDO:0021674 False oral hairy leukoplakia post-viral disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0000744 MONDO:0005227 False lung abscess abscess UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0000744 MONDO:0024355 False lung abscess respiratory tract infectious disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0000745 MONDO:0007263 False cardiac arrest cardiac rhythm disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000748 MONDO:0002614 False mastoiditis bone inflammation disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0000749 MONDO:0002657 False breast abscess breast disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0000748 MONDO:0021166 False mastoiditis inflammatory disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0000749 MONDO:0005227 False breast abscess abscess UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000750 MONDO:0006999 False dental abscess tooth disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0000754 MONDO:0001593 False anal fistula rectal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0000756 MONDO:0009993 False parameningeal embryonal rhabdomyosarcoma embryonal rhabdomyosarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0000751 MONDO:0004701 False cervical polyp uterine polyp UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0000757 MONDO:0024651 False glucocorticoid-induced osteoporosis corticosteroid-induced osteoporosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000758 MONDO:0005664 False bacillary angiomatosis bartonellosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0000758 MONDO:0021440 False bacillary angiomatosis benign neoplasm of skin UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0000758 MONDO:0024295 False bacillary angiomatosis skin disease caused by bacterial infection UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0000758 MONDO:0024461 False bacillary angiomatosis angiomatosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000761 MONDO:0019040 False syndrome caused by partial chromosomal deletion chromosomal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0000762 MONDO:0019040 False syndrome caused by partial chromosomal duplication chromosomal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0000763 MONDO:0018102 False epithelial and subepithelial corneal dystrophy corneal dystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0000764 MONDO:0003847 False epithelial-stromal TGFBI dystrophy hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0000764 MONDO:0018102 False epithelial-stromal TGFBI dystrophy corneal dystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0000766 MONDO:0018102 False corneal endothelial dystrophy corneal dystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0000771 MONDO:0005087 False allergic respiratory disease respiratory system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0000771 MONDO:0005271 False allergic respiratory disease allergic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0000774 MONDO:0000590 False autoimmune neuropathy autoimmune disorder of peripheral nervous system UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0000774 MONDO:0005244 False autoimmune neuropathy peripheral neuropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0000775 MONDO:0005271 False drug allergy allergic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0000777 MONDO:0005271 False gastrointestinal allergy allergic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0000807 MONDO:0005271 False latex allergy allergic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0000809 MONDO:0001243 False purpura fulminans disseminated intravascular coagulation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0000809 MONDO:0002610 False purpura fulminans purpura UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0000811 MONDO:0001389 False anomalous left coronary artery from the pulmonary artery congenital coronary artery anomaly UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0000812 MONDO:0005172 False vertebral column disorder skeletal system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0000813 MONDO:0000368 False cardiac tuberculosis extrapulmonary tuberculosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0000813 MONDO:0005267 False cardiac tuberculosis heart disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0000815 MONDO:0000592 False fetal nicotine spectrum disorder specific developmental disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0000816 MONDO:0003916 False abdominal obesity-metabolic syndrome overnutrition UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0000816 MONDO:0019052 False abdominal obesity-metabolic syndrome inborn errors of metabolism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0000819 MONDO:0002320 False anencephaly congenital nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0000819 MONDO:0003847 False anencephaly hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0000824 MONDO:0001673 False congenital diarrhea diarrheal disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0000820 MONDO:0002320 False cerebral cavernous malformation congenital nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0000824 MONDO:0003847 False congenital diarrhea hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0000827 MONDO:0000314 False salmonellosis primary bacterial infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0000828 MONDO:0017279 False juvenile-onset Parkinson disease young-onset Parkinson disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0000833 MONDO:0005381 False bone remodeling disease bone disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0000836 MONDO:0005381 False disease of bone structure bone disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0000837 MONDO:0000833 False bone resorption disease bone remodeling disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0000840 MONDO:0018373 False dysbaric osteonecrosis avascular necrosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000845 MONDO:0000833 False fibrous dysplasia bone remodeling disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0000849 MONDO:0002254 False fibrogenesis imperfecta ossium syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0000858 MONDO:0003409 False neuronal intestinal dysplasia colonic disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0000863 MONDO:0000577 False myopathy, lactic acidosis, and sideroblastic anemia congenital anemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000863 MONDO:0009637 False myopathy, lactic acidosis, and sideroblastic anemia inborn mitochondrial myopathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0000863 MONDO:0016387 False myopathy, lactic acidosis, and sideroblastic anemia mitochondrial oxidative phosphorylation disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000863 MONDO:0020099 False myopathy, lactic acidosis, and sideroblastic anemia inherited sideroblastic anemia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING -MONDO:0000866 MONDO:0005336 False hereditary myoglobinuria myopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0000870 MONDO:0003659 False childhood acute lymphoblastic leukemia pediatric lymphoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0000872 MONDO:0000621 False B-cell childhood acute lymphoblastic leukemia immune system cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0000878 MONDO:0005132 False cytomegalovirus retinitis cytomegalovirus infection UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0000878 MONDO:0016047 False cytomegalovirus retinitis endophthalmitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0000878 MONDO:0020010 False cytomegalovirus retinitis infectious disorder of the nervous system UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0000878 MONDO:0020950 False cytomegalovirus retinitis viral eye infection UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000879 MONDO:0002026 False cutaneous candidiasis candidiasis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0000879 MONDO:0005982 False cutaneous candidiasis tinea infection UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000884 MONDO:0015688 False myeloid and lymphoid neoplasms associated with FGFR1 abnormalities myeloid/lymphoid neoplasms associated with eosinophilia and abnormality of PDGFRA, PDGFRB, FGFR1 or JAK2 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0000888 MONDO:0004335 False gastrointestinal mucositis digestive system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0000889 MONDO:0006670 False haemophilus meningitis bacterial meningitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0000888 MONDO:0020579 False gastrointestinal mucositis mucositis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0000889 MONDO:0006926 False haemophilus meningitis haemophilus infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0000890 MONDO:0005108 False Zika virus congenital syndrome viral infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0000890 MONDO:0021670 False Zika virus congenital syndrome post-infectious syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0000890 MONDO:0021674 False Zika virus congenital syndrome post-viral disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0000890 MONDO:0100120 False Zika virus congenital syndrome vector-borne disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000891 MONDO:0006210 False mixed fibrolamellar hepatocellular carcinoma fibrolamellar hepatocellular carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0000894 MONDO:0004991 False mucinous bronchioloalveolar adenocarcinoma minimally invasive lung adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0000894 MONDO:0027772 False mucinous bronchioloalveolar adenocarcinoma lung colloid adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0000895 MONDO:0004991 False nonmucinous bronchioloalveolar adenocarcinoma minimally invasive lung adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0000898 MONDO:0006500 False malignant hemangioma hemangioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0000901 MONDO:0018905 False relapsed/refractory diffuse large B-cell lymphoma diffuse large B-cell lymphoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0000902 MONDO:0024237 False agenesis of the corpus callosum with peripheral neuropathy inherited neurodegenerative disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000903 MONDO:0020065 False myoclonus-dystonia syndrome combined dystonia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000904 MONDO:0003847 False complex cortical dysplasia with other brain malformations hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0000904 MONDO:0005560 False complex cortical dysplasia with other brain malformations brain disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0000904 MONDO:0021147 False complex cortical dysplasia with other brain malformations disorder of development or morphogenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0000909 MONDO:0019524 False Bartter disease type 4B Bartter syndrome type 4 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0000910 MONDO:0020605 False retinitis pigmentosa 6 X-linked recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0000913 MONDO:0019350 False hereditary spherocytosis type 2 hereditary spherocytosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0000916 MONDO:0000888 False intestinal infectious disease gastrointestinal mucositis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0000916 MONDO:0002269 False intestinal infectious disease gastroenteritis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0000916 MONDO:0043424 False intestinal infectious disease digestive system infectious disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0000918 MONDO:0020579 False endometritis mucositis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000919 MONDO:0000920 False ampulla of vater cancer duodenum cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0000919 MONDO:0021321 False ampulla of vater cancer malignant tumor of extrahepatic bile duct UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0000921 MONDO:0006709 False ampulla of vater neoplasm common bile duct neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0000921 MONDO:0021375 False ampulla of vater neoplasm tumor of duodenum UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000924 MONDO:0004849 False compensatory emphysema pulmonary emphysema UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0000922 MONDO:0021166 False pelvic inflammatory disease inflammatory disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0000925 MONDO:0004849 False hyperlucent lung pulmonary emphysema UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0000926 MONDO:0005328 False eye accommodation disease eye disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0000927 MONDO:0004944 False asymptomatic neurosyphilis neurosyphilis UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0000928 MONDO:0005012 False eyelid melanoma cutaneous melanoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0000936 MONDO:0007000 False syphilitic meningitis Treponema infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0000936 MONDO:0041825 False syphilitic meningitis bacterial meningitis caused by gram-negative bacteria UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0000937 MONDO:0007000 False syphilitic encephalitis Treponema infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0000937 MONDO:0020067 False syphilitic encephalitis infectious encephalitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0000939 MONDO:0005227 False intracranial abscess abscess UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0000939 MONDO:0024619 False intracranial abscess central nervous system infectious disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0000941 MONDO:0003382 False eyelid degenerative disorder eyelid disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0000941 MONDO:0004884 False eyelid degenerative disorder eye degenerative disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000943 MONDO:0015486 False acute hydrops keratoconus keratoconus UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0000943 MONDO:0020683 False acute hydrops keratoconus acute disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000944 MONDO:0011057 False cerebral artery occlusion cerebrovascular disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0000944 MONDO:0020673 False cerebral artery occlusion arterial occlusion UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000945 MONDO:0004634 False venous insufficiency vein disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0000945 MONDO:0020674 False venous insufficiency vascular insufficiency disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000946 MONDO:0000947 False psychologic vaginismus psychosexual disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0000946 MONDO:0021723 False psychologic vaginismus vaginismus UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000947 MONDO:0000595 False psychosexual disorder sexual and gender identity disorders UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0000947 MONDO:0005084 False psychosexual disorder mental disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000948 MONDO:0006733 False xerophthalmia dry eye syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0000949 MONDO:0006170 False conjunctival degeneration conjunctival disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0000950 MONDO:0005328 False asthenopia eye disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000953 MONDO:0002129 False cancer of short bone of lower limb bone cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0000954 MONDO:0000955 False Meckel diverticulum cancer ileum cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0000954 MONDO:0021082 False Meckel diverticulum cancer Meckel diverticulum neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000955 MONDO:0000956 False ileum cancer small intestine cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0000955 MONDO:0006801 False ileum cancer ileal neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0000957 MONDO:0001854 False lacrimal passage granuloma lacrimal apparatus disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0000958 MONDO:0002122 False neuroretinitis neuritis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0000958 MONDO:0003579 False neuroretinitis retinal nerve fiber layer disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0000958 MONDO:0006879 False neuroretinitis optic papillitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0000959 MONDO:0006846 False malignant hypertensive renal disease malignant hypertension UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0000959 MONDO:0024633 False malignant hypertensive renal disease hypertensive nephropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000960 MONDO:0005294 False diabetic peripheral angiopathy peripheral vascular disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0000961 MONDO:0000382 False endobronchial lipoma respiratory system benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0000961 MONDO:0002807 False endobronchial lipoma bronchial neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0000962 MONDO:0020664 False spindle cell lipoma spindle cell neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000965 MONDO:0000627 False liver lipoma benign endocrine neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0000978 MONDO:0000965 False extrahepatic bile duct lipoma liver lipoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0000979 MONDO:0000314 False pinta disease primary bacterial infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0000979 MONDO:0007000 False pinta disease Treponema infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0000979 MONDO:0024295 False pinta disease skin disease caused by bacterial infection UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000980 MONDO:0005311 False aortic atherosclerosis atherosclerosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0000980 MONDO:0005561 False aortic atherosclerosis aortic disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0000981 MONDO:0005904 False Histoplasma pericarditis pericarditis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0000981 MONDO:0018312 False Histoplasma pericarditis histoplasmosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0000983 MONDO:0000596 False exhibitionism paraphilic disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0000984 MONDO:0019050 False thalassemia inherited hemoglobinopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0000986 MONDO:0043786 False pleurisy serositis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000988 MONDO:0002409 False discharging ear auditory system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0000989 MONDO:0005896 False mumps infectious disease Paramyxoviridae infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0000990 MONDO:0003674 False acute subendocardial myocardial infarction subendocardial myocardial infarction UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0000990 MONDO:0004781 False acute subendocardial myocardial infarction acute myocardial infarction UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0000992 MONDO:0005267 False heart conduction disease heart disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0000994 MONDO:0006295 False malignant prostate phyllodes tumor malignant urinary system neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0000995 MONDO:0004689 False familial periodic paralysis inborn metal metabolism disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0000995 MONDO:0016122 False familial periodic paralysis periodic paralysis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000997 MONDO:0004896 False monocular esotropia esotropia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0001005 MONDO:0001000 False kaolin pneumoconiosis mixed mineral dust pneumoconiosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001006 MONDO:0003608 False glaucomatous atrophy of optic disk optic atrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0001006 MONDO:0005041 False glaucomatous atrophy of optic disk glaucoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0001007 MONDO:0021108 False chronic meningitis meningitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001008 MONDO:0003382 False blepharophimosis eyelid disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001009 MONDO:0001011 False solitary cyst of breast breast cyst UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001011 MONDO:0000620 False breast cyst breast benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001015 MONDO:0001007 False eosinophilic meningitis chronic meningitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001019 MONDO:0001020 False suppression amblyopia amblyopia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001021 MONDO:0001020 False ametropic amblyopia amblyopia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001022 MONDO:0001020 False disuse amblyopia amblyopia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001020 MONDO:0021084 False amblyopia vision disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0001023 MONDO:0004967 False prolymphocytic leukemia acute lymphoblastic leukemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001024 MONDO:0005275 False pneumonic plague lung disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0001024 MONDO:0024355 False pneumonic plague respiratory tract infectious disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001025 MONDO:0001027 False seminal vesicle chronic gonorrhea gonococcal seminal vesiculitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001027 MONDO:0004277 False gonococcal seminal vesiculitis gonorrhea UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001027 MONDO:0004767 False gonococcal seminal vesiculitis vesiculitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0001028 MONDO:0020683 False acute pericementitis acute disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001029 MONDO:0002081 False Klippel-Feil syndrome musculoskeletal system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0001029 MONDO:0003847 False Klippel-Feil syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001030 MONDO:0015486 False keratoconus, stable condition keratoconus UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001031 MONDO:0005975 False purulent acute otitis media suppurative otitis media UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0001031 MONDO:0020683 False purulent acute otitis media acute disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001032 MONDO:0004577 False Mooren ulcer corneal ulcer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001033 MONDO:0004577 False mycotic corneal ulcer corneal ulcer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001034 MONDO:0004577 False marginal corneal ulcer corneal ulcer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001035 MONDO:0001036 False hypopyon ulcer hypopyon UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0001036 MONDO:0017210 False hypopyon infectious anterior uveitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001037 MONDO:0004577 False ring corneal ulcer corneal ulcer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001038 MONDO:0004577 False perforated corneal ulcer corneal ulcer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001039 MONDO:0004867 False tonsillitis upper respiratory tract disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0001039 MONDO:0020592 False tonsillitis disorder of pharynx UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0001039 MONDO:0021166 False tonsillitis inflammatory disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0001039 MONDO:0044986 False tonsillitis lymphoid system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0001040 MONDO:0021166 False nasopharyngitis inflammatory disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001041 MONDO:0005276 False dentin caries dental caries UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001042 MONDO:0004857 False patellar tendinitis tendinitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0001042 MONDO:0005172 False patellar tendinitis skeletal system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0001046 MONDO:0021147 False imperforate anus disorder of development or morphogenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001048 MONDO:0001849 False orbital granuloma chronic orbital inflammation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001049 MONDO:0005904 False Dressler syndrome pericarditis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001051 MONDO:0004795 False acute otitis externa otitis externa UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0001051 MONDO:0020683 False acute otitis externa acute disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001052 MONDO:0000262 False chronic fungal otitis externa otomycosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0001053 MONDO:0001051 False acute infection of pinna acute otitis externa UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001054 MONDO:0005085 False double pterygium pterygium UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0001055 MONDO:0000949 False conjunctival pterygium conjunctival degeneration UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001055 MONDO:0005085 False conjunctival pterygium pterygium UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001061 MONDO:0001056 False pylorus cancer gastric cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001062 MONDO:0001061 False pyloric antrum cancer pylorus cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001063 MONDO:0001056 False cardia cancer gastric cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001064 MONDO:0002172 False acute eustachian salpingitis otosalpingitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0001064 MONDO:0020683 False acute eustachian salpingitis acute disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0001065 MONDO:0005468 False supine hypotensive syndrome hypotensive disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0001066 MONDO:0006718 False late yaws cutaneous syphilis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001068 MONDO:0000833 False osteomalacia bone remodeling disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001071 MONDO:0005503 False intellectual disability developmental disorder of mental health UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001072 MONDO:0005081 False mild pre-eclampsia preeclampsia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001073 MONDO:0001824 False idiopathic progressive polyneuropathy polyneuropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001068 MONDO:0800486 False osteomalacia metabolic bone disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0001073 MONDO:0700007 False idiopathic progressive polyneuropathy idiopathic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001074 MONDO:0002420 False chronic tic disorder tic disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001074 MONDO:0005395 False chronic tic disorder movement disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0001075 MONDO:0005020 False steatorrhea intestinal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0001076 MONDO:0011731 False glucose intolerance glucose-galactose malabsorption UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0001078 MONDO:0020598 False tropical sprue malabsorption syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0001079 MONDO:0001075 False pancreatic steatorrhea steatorrhea UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001079 MONDO:0002356 False pancreatic steatorrhea pancreas disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001080 MONDO:0001081 False acute gonococcal cervicitis acute cervicitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0001080 MONDO:0021157 False acute gonococcal cervicitis gonococcal cervicitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0001081 MONDO:0020683 False acute cervicitis acute disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001082 MONDO:0000612 False lymph node cancer lymphatic system cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001083 MONDO:0006510 False Fanconi renotubular syndrome renal tubular transport disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001083 MONDO:0002254 False Fanconi renotubular syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0001083 MONDO:0021568 False Fanconi renotubular syndrome renal tubule disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001084 MONDO:0003608 False primary optic atrophy optic atrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001086 MONDO:0003608 False partial optic atrophy optic atrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001088 MONDO:0004781 False acute inferoposterior infarction acute myocardial infarction UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001089 MONDO:0004781 False acute inferolateral myocardial infarction acute myocardial infarction UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001090 MONDO:0004781 False acute anterolateral myocardial infarction acute myocardial infarction UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0001090 MONDO:0006652 False acute anterolateral myocardial infarction anterolateral myocardial infarction UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0001093 MONDO:0024479 False colonic lymphangioma epithelial tumor of colon UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001094 MONDO:0005338 False residual stage of open angle glaucoma open-angle glaucoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0001096 MONDO:0001095 False mediastinum ganglioneuroblastoma mediastinum neuroblastoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001098 MONDO:0005618 False separation anxiety disorder anxiety disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001099 MONDO:0001011 False lactocele breast cyst UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0001099 MONDO:0045019 False lactocele lactation disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001103 MONDO:0002428 False giardiasis protozoa infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0001103 MONDO:0024270 False giardiasis parasitic intestinal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001104 MONDO:0004425 False toxic diffuse goiter hyperthyroidism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001105 MONDO:0001200 False renal hypertension secondary hypertension UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001105 MONDO:0005240 False renal hypertension kidney disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0001108 MONDO:0000637 False broad ligament malignant neoplasm musculoskeletal system cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001108 MONDO:0001351 False broad ligament malignant neoplasm uterine adnexa cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0001108 MONDO:0045043 False broad ligament malignant neoplasm disorder of uterine broad ligament UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001109 MONDO:0005246 False petrositis osteomyelitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0001109 MONDO:0021166 False petrositis inflammatory disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0001109 MONDO:0024654 False petrositis skull disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0001110 MONDO:0005300 False chronic pyelonephritis chronic kidney disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001112 MONDO:0005833 False bubonic plague lymphatic system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0001115 MONDO:0003847 False familial polycythemia hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0001117 MONDO:0044348 False methemoglobinemia hemoglobinopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001118 MONDO:0001195 False Queensland tick typhus spotted fever UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0001118 MONDO:0025294 False Queensland tick typhus tick-borne infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0001119 MONDO:0005387 False premature menopause primary ovarian failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001120 MONDO:0006031 False chronic frontal sinusitis chronic rhinosinusitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0001122 MONDO:0006031 False chronic maxillary sinusitis chronic rhinosinusitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0001123 MONDO:0006031 False chronic sphenoidal sinusitis chronic rhinosinusitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0001125 MONDO:0020683 False acute gonococcal epididymo-orchitis acute disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0001125 MONDO:0021158 False acute gonococcal epididymo-orchitis gonococcal epididymo-orchitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001127 MONDO:0004857 False tibialis tendinitis tendinitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001128 MONDO:0000376 False nasal cavity cancer respiratory system cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001126 MONDO:0004298 False gastric ulcer stomach disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0001128 MONDO:0000649 False nasal cavity cancer sensory system cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001133 MONDO:0001134 False malignant essential hypertension essential hypertension UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0001133 MONDO:0006846 False malignant essential hypertension malignant hypertension UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001134 MONDO:0005044 False essential hypertension hypertensive disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001135 MONDO:0000596 False voyeurism paraphilic disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0001136 MONDO:0002329 False chylocele of tunica vaginalis testicular disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0001137 MONDO:0005763 False Murray valley encephalitis Flaviviridae infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0001137 MONDO:0100120 False Murray valley encephalitis vector-borne disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001138 MONDO:0002322 False angiodysplasia of intestine angiodysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001138 MONDO:0005020 False angiodysplasia of intestine intestinal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001141 MONDO:0005441 False middle ear cholesterol granuloma otitis media UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001142 MONDO:0006858 False salivary gland disorder mouth disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001143 MONDO:0003432 False paralytic strabismus strabismus UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0001144 MONDO:0001309 False partial third-nerve palsy oculomotor nerve paralysis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0001145 MONDO:0001309 False total third-nerve palsy oculomotor nerve paralysis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0001146 MONDO:0002782 False fourth cranial nerve palsy cranial nerve palsy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0001146 MONDO:0007002 False fourth cranial nerve palsy trochlear nerve disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001148 MONDO:0002800 False iliac vein thrombophlebitis thrombophlebitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001147 MONDO:0002320 False meningocele congenital nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0001149 MONDO:0021147 False microcephaly disorder of development or morphogenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001151 MONDO:0001134 False benign essential hypertension essential hypertension UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001152 MONDO:0002039 False amnestic disorder cognitive disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001154 MONDO:0001195 False Siberian tick typhus spotted fever UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001155 MONDO:0004247 False gastrojejunal ulcer peptic ulcer disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001149 MONDO:0700092 False microcephaly neurodevelopmental disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0001166 MONDO:0021166 False nephritis inflammatory disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001167 MONDO:0000396 False spastic diplegia spastic cerebral palsy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001168 MONDO:0000396 False spastic hemiplegia spastic cerebral palsy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001169 MONDO:0000396 False spastic monoplegia spastic cerebral palsy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0001170 MONDO:0006496 False hemiplegia palsy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001171 MONDO:0001172 False acute salpingo-oophoritis salpingo-oophoritis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0001171 MONDO:0001173 False acute salpingo-oophoritis acute salpingitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0001172 MONDO:0003619 False salpingo-oophoritis salpingitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001172 MONDO:0006877 False salpingo-oophoritis oophoritis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0001173 MONDO:0020683 False acute salpingitis acute disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001175 MONDO:0005129 False immature cataract cataract UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001177 MONDO:0002519 False anorectal stricture anus disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001178 MONDO:0000942 False pseudopterygium corneal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001174 MONDO:0005552 False conjunctival vascular disorder ocular vascular disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0001178 MONDO:0000949 False pseudopterygium conjunctival degeneration UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001179 MONDO:0000949 False pinguecula conjunctival degeneration UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001180 MONDO:0006712 False bullous keratopathy corneal edema UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001181 MONDO:0006712 False secondary corneal edema corneal edema UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001182 MONDO:0006712 False idiopathic corneal edema corneal edema UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001180 MONDO:0002261 False bullous keratopathy keratopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0001182 MONDO:0700007 False idiopathic corneal edema idiopathic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001183 MONDO:0006712 False contact lens corneal edema corneal edema UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0001184 MONDO:0005300 False chronic rapidly progressive glomerulonephritis chronic kidney disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0001184 MONDO:0017236 False chronic rapidly progressive glomerulonephritis rapidly progressive glomerulonephritis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001190 MONDO:0005683 False Brucella suis brucellosis brucellosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001191 MONDO:0005550 False hirudiniasis infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0001195 MONDO:0006927 False spotted fever Rickettsiaceae infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0001195 MONDO:0100120 False spotted fever vector-borne disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001196 MONDO:0000947 False psychologic dyspareunia psychosexual disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0001196 MONDO:0700057 False psychologic dyspareunia neurological pain disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0001197 MONDO:0002245 False qualitative platelet defect blood platelet disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001198 MONDO:0002049 False acquired thrombocytopenia thrombocytopenia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001199 MONDO:0002409 False dislocation of ear ossicle auditory system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001200 MONDO:0005044 False secondary hypertension hypertensive disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001202 MONDO:0003105 False prostatic cyst prostate disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0001203 MONDO:0024625 False prolapse of lacrimal gland disorder of lacrimal gland UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001205 MONDO:0005041 False hypersecretion glaucoma glaucoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001206 MONDO:0005041 False aqueous misdirection glaucoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0001207 MONDO:0001208 False neonatal respiratory failure acute respiratory failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0001208 MONDO:0020683 False acute respiratory failure acute disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001209 MONDO:0005108 False common wart viral infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001208 MONDO:0021113 False acute respiratory failure respiratory failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0001209 MONDO:0024294 False common wart skin disorder caused by infection UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001210 MONDO:0004751 False enophthalmos disease of orbital part of eye adnexa UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001211 MONDO:0000926 False total internal ophthalmoplegia eye accommodation disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0001211 MONDO:0001309 False total internal ophthalmoplegia oculomotor nerve paralysis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001211 MONDO:0002285 False total internal ophthalmoplegia pupil disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001212 MONDO:0005441 False non-suppurative otitis media otitis media UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0001213 MONDO:0021203 False serous glue ear serous otitis media UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0001213 MONDO:0021206 False serous glue ear chronic non-suppurative otitis media UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0001214 MONDO:0020683 False acute conjunctivitis acute disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001215 MONDO:0000308 False allescheriosis primary systemic mycosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001216 MONDO:0003394 False pulp degeneration dental pulp disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001217 MONDO:0001214 False pseudomembranous conjunctivitis acute conjunctivitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001218 MONDO:0004867 False acute laryngopharyngitis upper respiratory tract disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001217 MONDO:0006668 False pseudomembranous conjunctivitis bacterial conjunctivitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0001218 MONDO:0020683 False acute laryngopharyngitis acute disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001219 MONDO:0001214 False serous conjunctivitis except viral acute conjunctivitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0001221 MONDO:0008638 False esophageal varices varicose disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001223 MONDO:0005151 False parathyroid gland disorder endocrine system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001225 MONDO:0002491 False opioid abuse substance abuse UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001222 MONDO:0003780 False congenital T-cell immunodeficiency T-cell immunodeficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0001224 MONDO:0001214 False Angelucci syndrome acute conjunctivitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0001227 MONDO:0021204 False chronic tympanitis chronic otitis media UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0001227 MONDO:0024616 False chronic tympanitis tympanitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001228 MONDO:0001214 False conjunctival folliculosis acute conjunctivitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001229 MONDO:0004235 False small intestine diverticulitis diverticulitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0001229 MONDO:0024635 False small intestine diverticulitis small intestine disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001230 MONDO:0004751 False acute orbital inflammation disease of orbital part of eye adnexa UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0001230 MONDO:0020683 False acute orbital inflammation acute disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001231 MONDO:0001230 False orbital periostitis acute orbital inflammation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0001231 MONDO:0004934 False orbital periostitis periostitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001232 MONDO:0001230 False orbital osteomyelitis acute orbital inflammation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001233 MONDO:0001230 False orbital tenonitis acute orbital inflammation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0001235 MONDO:0002033 False appendix cancer cecum cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0001236 MONDO:0005694 False appendiceal neoplasm cecal neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0001236 MONDO:0056798 False appendiceal neoplasm disorder of appendix UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0001237 MONDO:0002034 False appendix lymphoma cecum lymphoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001239 MONDO:0001240 False anemia of prematurity neonatal anemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001240 MONDO:0002280 False neonatal anemia anemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001241 MONDO:0001475 False transient neonatal neutropenia neutropenia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001243 MONDO:0002305 False disseminated intravascular coagulation thrombophilia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001244 MONDO:0024298 False vitamin K deficiency hemorrhagic disease vitamin deficiency disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0001246 MONDO:0006927 False typhus Rickettsiaceae infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0001246 MONDO:0100120 False typhus vector-borne disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0001249 MONDO:0005701 False trachoma chlamydia trachomatis infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001250 MONDO:0005328 False keratomalacia eye disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001251 MONDO:0004508 False chronic apical periodontitis periapical periodontitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0001251 MONDO:0005593 False chronic apical periodontitis chronic periodontitis UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001255 MONDO:0017853 False ventilation pneumonitis hypersensitivity pneumonitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001256 MONDO:0006500 False arteriovenous hemangioma/malformation hemangioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001257 MONDO:0002311 False retinal microaneurysm retinal vascular disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001258 MONDO:0003718 False vertebral artery occlusion occlusion precerebral artery UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0001258 MONDO:0020673 False vertebral artery occlusion arterial occlusion UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001259 MONDO:0002721 False pituitary gland infarction necrosis of pituitary UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001260 MONDO:0015254 False cercarial dermatitis schistosomiasis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0001260 MONDO:0021201 False cercarial dermatitis skin infection UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0001260 MONDO:0024610 False cercarial dermatitis parasitic skin disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0001262 MONDO:0002099 False African histoplasmosis Histoplasma capsulatum infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0001263 MONDO:0002099 False histoplasmosis retinitis Histoplasma capsulatum infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001263 MONDO:0002708 False histoplasmosis retinitis retinitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0001263 MONDO:0016047 False histoplasmosis retinitis endophthalmitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0001263 MONDO:0020010 False histoplasmosis retinitis infectious disorder of the nervous system UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0001263 MONDO:0020944 False histoplasmosis retinitis fungal infection of eye UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001265 MONDO:0005485 False schizophreniform disorder psychotic disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0001266 MONDO:0021201 False erysipelas skin infection UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0001266 MONDO:0021680 False erysipelas streptococcal infection UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0001266 MONDO:0024295 False erysipelas skin disease caused by bacterial infection UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001268 MONDO:0002021 False gingival recession gingival disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0001270 MONDO:0006678 False stone in bladder diverticulum bladder calculus UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001270 MONDO:0007197 False stone in bladder diverticulum bladder diverticulum UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001272 MONDO:0003409 False functional diarrhea colonic disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001273 MONDO:0003409 False megacolon colonic disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001274 MONDO:0002519 False anal spasm anus disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0001277 MONDO:0003346 False cerebral arteritis central nervous system vasculitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001277 MONDO:0011057 False cerebral arteritis cerebrovascular disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0001277 MONDO:0043494 False cerebral arteritis arteritis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001280 MONDO:0001898 False choroiditis optic choroid disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0001280 MONDO:0006918 False choroiditis posterior uveitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0001280 MONDO:0018882 False choroiditis vasculitis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001283 MONDO:0002263 False endosalpingiosis female reproductive system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001284 MONDO:0005020 False endometriosis of intestine intestinal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0001290 MONDO:0004980 False allergic cutaneous vasculitis atopic eczema UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001290 MONDO:0006794 False allergic cutaneous vasculitis hypersensitivity vasculitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001291 MONDO:0005560 False brain compression brain disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001290 MONDO:0020576 False allergic cutaneous vasculitis cutaneous vasculitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0001292 MONDO:0002602 False autonomic nervous system disorder central nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001292 MONDO:0003620 False autonomic nervous system disorder peripheral nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001294 MONDO:0001300 False Horner syndrome autonomic neuropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001295 MONDO:0001292 False idiopathic peripheral autonomic neuropathy autonomic nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0001295 MONDO:0700007 False idiopathic peripheral autonomic neuropathy idiopathic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001296 MONDO:0006873 False acquired night blindness nutritional deficiency disease UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001297 MONDO:0001370 False cardiac tamponade pericardial effusion UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0001298 MONDO:0020674 False congenital mitral valve insufficiency vascular insufficiency disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001300 MONDO:0001292 False autonomic neuropathy autonomic nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001301 MONDO:0005451 False rumination disorder eating disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001303 MONDO:0002285 False abnormal pupillary function pupil disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001299 MONDO:0006626 False diabetic autonomic neuropathy diabetic neuropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0001304 MONDO:0024633 False benign hypertensive renal disease hypertensive nephropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001305 MONDO:0004382 False laryngostenosis laryngeal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001307 MONDO:0004903 False corneal abscess deep keratitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001308 MONDO:0000942 False corneal deposit corneal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001307 MONDO:0005227 False corneal abscess abscess UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0001307 MONDO:0023865 False corneal abscess corneal infection UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0001309 MONDO:0024458 False oculomotor nerve paralysis disorder of visual system UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001310 MONDO:0000942 False Bowman's membrane folds or rupture corneal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001312 MONDO:0002738 False acute serous otitis media acute transudative otitis media UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001313 MONDO:0001312 False acute allergic serous otitis media acute serous otitis media UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0001313 MONDO:0021202 False acute allergic serous otitis media allergic otitis media UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001315 MONDO:0003117 False neurocirculatory asthenia somatoform disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001314 MONDO:0005066 False chondrocalcinosis metabolic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001314 MONDO:0800486 False chondrocalcinosis metabolic bone disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0001315 MONDO:0005618 False neurocirculatory asthenia anxiety disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001316 MONDO:0006670 False streptococcal meningitis bacterial meningitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0001316 MONDO:0021680 False streptococcal meningitis streptococcal infection UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001317 MONDO:0004768 False phlyctenulosis keratoconjunctivitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001318 MONDO:0004298 False functional gastric disease stomach disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001319 MONDO:0001187 False bladder lateral wall cancer urinary bladder cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001320 MONDO:0001269 False ring staphyloma scleral disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001322 MONDO:0001340 False pericardium cancer heart cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0001323 MONDO:0001571 False infant gynecomastia gynecomastia disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001326 MONDO:0003394 False dental pulp necrosis dental pulp disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0001328 MONDO:0045046 False thyroid hormone resistance syndrome inherited thyroid metabolism disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001329 MONDO:0000926 False accommodative spasm eye accommodation disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001330 MONDO:0000926 False presbyopia eye accommodation disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0001330 MONDO:0004892 False presbyopia refractive error UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001331 MONDO:0006170 False conjunctival deposit conjunctival disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0001332 MONDO:0002254 False palindromic rheumatism syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0001332 MONDO:0003366 False palindromic rheumatism hydrarthrosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0001332 MONDO:0005554 False palindromic rheumatism rheumatic disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001334 MONDO:0003382 False hypertrichosis of eyelid eyelid disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001334 MONDO:0019280 False hypertrichosis of eyelid hypertrichosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001335 MONDO:0003037 False hypotrichosis of eyelid hypotrichosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001335 MONDO:0003382 False hypotrichosis of eyelid eyelid disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001336 MONDO:0002525 False familial hyperlipidemia inherited lipid metabolism disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0001336 MONDO:0021187 False familial hyperlipidemia hyperlipidemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0001338 MONDO:0001028 False acute apical periodontitis acute pericementitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001338 MONDO:0004508 False acute apical periodontitis periapical periodontitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001339 MONDO:0002405 False portal vein thrombosis hepatic vascular disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001339 MONDO:0004634 False portal vein thrombosis vein disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001341 MONDO:0001342 False selective IgA deficiency disease dysgammaglobulinemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001342 MONDO:0003739 False dysgammaglobulinemia selective immunoglobulin deficiency disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0001343 MONDO:0005240 False impaired renal function disease kidney disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001345 MONDO:0002491 False antidepressant type abuse substance abuse UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001347 MONDO:0016106 False facioscapulohumeral muscular dystrophy progressive muscular dystrophy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0001347 MONDO:0100137 False facioscapulohumeral muscular dystrophy telomere syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001349 MONDO:0005276 False odontoclasia dental caries UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0001350 MONDO:0001108 False parametrium malignant neoplasm broad ligament malignant neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001351 MONDO:0002715 False uterine adnexa cancer uterine cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0001352 MONDO:0000637 False round ligament malignant neoplasm musculoskeletal system cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001352 MONDO:0001351 False round ligament malignant neoplasm uterine adnexa cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0001352 MONDO:0002087 False round ligament malignant neoplasm peritoneum cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0001352 MONDO:0045044 False round ligament malignant neoplasm ligament disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0001353 MONDO:0037872 False Bordetella parapertussis infectious disease bordetellosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0001355 MONDO:0001436 False ocular siderosis hemosiderosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001355 MONDO:0005328 False ocular siderosis eye disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0001356 MONDO:0000387 False iron deficiency anemia hypochromic microcytic anemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001356 MONDO:0006873 False iron deficiency anemia nutritional deficiency disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001358 MONDO:0000270 False bronchial disorder lower respiratory tract disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001360 MONDO:0004390 False blind hypotensive eye ocular hypotension UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001361 MONDO:0004843 False spontaneous ocular nystagmus pathologic nystagmus UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0001363 MONDO:0004884 False blind hypertensive eye eye degenerative disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001364 MONDO:0011284 False regular astigmatism astigmatism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0001365 MONDO:0003276 False necrosis of ear ossicle middle ear disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0001365 MONDO:0005172 False necrosis of ear ossicle skeletal system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001366 MONDO:0002332 False splenic sequestration splenic disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0001367 MONDO:0037251 False chronic congestive splenomegaly congestive splenomegaly UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001368 MONDO:0001515 False phthisical cornea corneal degeneration UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001370 MONDO:0000474 False pericardial effusion pericardium disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001372 MONDO:0001187 False bladder neck cancer urinary bladder cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0001372 MONDO:0041154 False bladder neck cancer disorder of neck of urinary bladder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001373 MONDO:0001187 False urinary bladder posterior wall cancer urinary bladder cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0001375 MONDO:0001380 False bladder trigone cancer bladder dome cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001376 MONDO:0001187 False urinary bladder anterior wall cancer urinary bladder cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001377 MONDO:0004860 False vitreous syneresis vitreous disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0001377 MONDO:0004884 False vitreous syneresis eye degenerative disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001378 MONDO:0001187 False urachus cancer urinary bladder cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0001379 MONDO:0001380 False ureteric orifice cancer bladder dome cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0001379 MONDO:0008627 False ureteric orifice cancer ureter cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001380 MONDO:0001187 False bladder dome cancer urinary bladder cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001383 MONDO:0001384 False degenerative myopia myopia UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001382 MONDO:0002254 False hepatorenal syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0001383 MONDO:0004884 False degenerative myopia eye degenerative disorder UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0001383 MONDO:0024237 False degenerative myopia inherited neurodegenerative disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0001384 MONDO:0003847 False myopia hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001384 MONDO:0004892 False myopia refractive error UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001385 MONDO:0003584 False cortical blindness visual cortex disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001385 MONDO:0001941 False cortical blindness blindness (disorder) UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0001386 MONDO:0003584 False visual epilepsy visual cortex disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001388 MONDO:0001325 False glans penis cancer penile cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001389 MONDO:0005010 False congenital coronary artery anomaly coronary artery disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001386 MONDO:0017768 False visual epilepsy reflex epilepsy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0001389 MONDO:0005453 False congenital coronary artery anomaly congenital heart disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001390 MONDO:0004892 False transient refractive change refractive error UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001392 MONDO:0001286 False monocular exotropia exotropia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001393 MONDO:0002164 False peripheral focal chorioretinitis focal chorioretinitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001395 MONDO:0003085 False macular keratitis keratitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001397 MONDO:0005244 False mononeuropathy peripheral neuropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0001400 MONDO:0000638 False schwannoma of ureter benign glioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0001400 MONDO:0056804 False schwannoma of ureter benign neoplasm of peripheral nervous system UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001401 MONDO:0004379 False female breast nipple and areola cancer female breast carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0001403 MONDO:0002898 False labium majus cancer skin cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001404 MONDO:0004592 False ecthyma impetigo UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001407 MONDO:0000376 False tracheal cancer respiratory system cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0001409 MONDO:0021166 False esophagitis inflammatory disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001410 MONDO:0002234 False postmenopausal atrophic vaginitis vaginitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001411 MONDO:0018234 False synostosis dysostosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001412 MONDO:0001331 False conjunctival concretion conjunctival deposit UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001414 MONDO:0002933 False osteopoikilosis osteosclerosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001422 MONDO:0005495 False primary aldosteronism adrenal gland disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0001423 MONDO:0005084 False drug-induced mental disorder mental disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001427 MONDO:0004298 False Dieulafoy lesion stomach disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001428 MONDO:0004298 False pylorospasm stomach disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001430 MONDO:0006713 False deep corneal vascularisation corneal neovascularization UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001434 MONDO:0003937 False inflammatory spondylopathy spondylitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001435 MONDO:0004579 False bullous retinoschisis retinoschisis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001436 MONDO:0002279 False hemosiderosis iron metabolism disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001438 MONDO:0002771 False postinflammatory pulmonary fibrosis pulmonary fibrosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001439 MONDO:0001269 False episcleritis periodica fugax scleral disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001440 MONDO:0004768 False neurotrophic keratoconjunctivitis keratoconjunctivitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001441 MONDO:0005451 False pica disease eating disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001443 MONDO:0003648 False tympanosclerosis tympanic membrane disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001444 MONDO:0000940 False Chagas disease trypanosomiasis UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0001444 MONDO:0100120 False Chagas disease vector-borne disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001446 MONDO:0006026 False low compliance bladder urinary bladder disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001447 MONDO:0006026 False detrusor sphincter dyssynergia urinary bladder disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0001449 MONDO:0004796 False lymphocytic choriomeningitis infectious meningitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0001449 MONDO:0024318 False lymphocytic choriomeningitis viral infection of central nervous system UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0001449 MONDO:0100120 False lymphocytic choriomeningitis vector-borne disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001452 MONDO:0001451 False pseudoretinitis pigmentosa peripheral retinal degeneration UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001453 MONDO:0001451 False senile reticular retinal degeneration peripheral retinal degeneration UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001454 MONDO:0001451 False Blessig's cysts peripheral retinal degeneration UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001455 MONDO:0001451 False retinal lattice degeneration peripheral retinal degeneration UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001456 MONDO:0001451 False cobblestone retinal degeneration peripheral retinal degeneration UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001457 MONDO:0001451 False secondary vitreoretinal degeneration peripheral retinal degeneration UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0001458 MONDO:0007006 False ulnar nerve lesion ulnar neuropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0001458 MONDO:0024334 False ulnar nerve lesion peripheral nerve lesion UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001459 MONDO:0001397 False radial neuropathy mononeuropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0001459 MONDO:0006683 False radial neuropathy brachial plexus neuropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001460 MONDO:0005397 False dyshormonogenic goiter goiter UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001462 MONDO:0021063 False descending colon cancer malignant colon neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001463 MONDO:0001462 False splenic flexure cancer descending colon cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0001464 MONDO:0006971 False sigmoid colon cancer sigmoid neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001464 MONDO:0021063 False sigmoid colon cancer malignant colon neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001465 MONDO:0003085 False superficial keratitis keratitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0001466 MONDO:0001465 False punctate epithelial keratoconjunctivitis superficial keratitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001466 MONDO:0004768 False punctate epithelial keratoconjunctivitis keratoconjunctivitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001468 MONDO:0006816 False synovial plica syndrome arthropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0001468 MONDO:0056799 False synovial plica syndrome synovium disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001469 MONDO:0004298 False cascade stomach stomach disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0001471 MONDO:0002099 False histoplasmosis meningitis Histoplasma capsulatum infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001471 MONDO:0006764 False histoplasmosis meningitis fungal meningitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0001472 MONDO:0003125 False testicular lymphoma testicular sex cord-stromal neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001473 MONDO:0005495 False medulloadrenal hyperfunction adrenal gland disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001474 MONDO:0001172 False chronic salpingo-oophoritis salpingo-oophoritis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0001474 MONDO:0003617 False chronic salpingo-oophoritis chronic salpingitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001475 MONDO:0001609 False neutropenia agranulocytosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001478 MONDO:0004892 False anisometropia refractive error UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001479 MONDO:0002922 False cutaneous diphtheria pyoderma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001480 MONDO:0005447 False malignant tumor of undescended testis testicular cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001481 MONDO:0002800 False femoral vein thrombophlebitis thrombophlebitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001485 MONDO:0005371 False atypical depressive disorder mood disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001479 MONDO:0021201 False cutaneous diphtheria skin infection UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0001487 MONDO:0003059 False intrahepatic bile duct cancer bile duct cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001488 MONDO:0001308 False anterior corneal pigmentation corneal deposit UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001490 MONDO:0000764 False corneal granular dystrophy epithelial-stromal TGFBI dystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001492 MONDO:0001493 False kyphoscoliotic heart disease chronic pulmonary heart disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001493 MONDO:0004596 False chronic pulmonary heart disease cor pulmonale UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001495 MONDO:0003150 False hematocele of tunica vaginalis testis male reproductive system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001496 MONDO:0003150 False male genital organ stricture male reproductive system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001497 MONDO:0003150 False male genital organ vascular disease male reproductive system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001498 MONDO:0004869 False varicocele pelvic varices UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0001498 MONDO:0045003 False varicocele scrotal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001503 MONDO:0004390 False primary eye hypotony ocular hypotension UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001504 MONDO:0000596 False fetishistic disorder paraphilic disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001505 MONDO:0043693 False alcoholic hepatitis alcoholic liver diseases UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0001506 MONDO:0005280 False prostatocystitis prostatitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001506 MONDO:0006032 False prostatocystitis cystitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001507 MONDO:0002008 False viral labyrinthitis labyrinthitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001507 MONDO:0005108 False viral labyrinthitis viral infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0001507 MONDO:0021666 False viral labyrinthitis ear infection UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001508 MONDO:0004866 False patulous eustachian tube eustachian tube disorder UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001509 MONDO:0004751 False endocrine exophthalmos disease of orbital part of eye adnexa UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001510 MONDO:0004751 False lateral displacement of eye disease of orbital part of eye adnexa UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001511 MONDO:0001509 False thyrotoxic exophthalmos endocrine exophthalmos UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001512 MONDO:0004751 False intermittent proptosis disease of orbital part of eye adnexa UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001513 MONDO:0004751 False pulsating exophthalmos disease of orbital part of eye adnexa UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001514 MONDO:0004184 False prolapse of urethra urethral disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001515 MONDO:0000942 False corneal degeneration corneal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0001516 MONDO:0003182 False spinal muscular atrophy anterior horn disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001516 MONDO:0020128 False spinal muscular atrophy motor neuron disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0001517 MONDO:0000252 False dysentery inflammatory diarrhea UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0001517 MONDO:0000257 False dysentery acute diarrhea UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001517 MONDO:0000916 False dysentery intestinal infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001518 MONDO:0001519 False spastic entropion entropion UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001519 MONDO:0003382 False entropion eyelid disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001523 MONDO:0005328 False luxation of globe eye disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001525 MONDO:0003240 False thyrocalcitonin secretion disease thyroid gland disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001526 MONDO:0002898 False labia minora cancer skin cancer UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001527 MONDO:0003432 False conjugate gaze palsy strabismus UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001529 MONDO:0002280 False pancytopenia anemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001530 MONDO:0006964 False secondary hyperparathyroidism of renal origin secondary hyperparathyroidism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0001532 MONDO:0005745 False capillariasis Enoplea infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001533 MONDO:0002183 False pes anserinus tendinitis or bursitis enthesopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001534 MONDO:0006170 False ocular hyperemia conjunctival disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001535 MONDO:0002639 False vagus nerve disorder glossopharyngeal nerve disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0001537 MONDO:0004779 False tuberculous epididymitis epididymitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0001537 MONDO:0006845 False tuberculous epididymitis male genital tuberculosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001538 MONDO:0005053 False retinal ischemia ischemic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001538 MONDO:0005283 False retinal ischemia retinal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0001538 MONDO:0043218 False retinal ischemia neurovascular disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001539 MONDO:0008375 False retinal perforation retinal detachment UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0001541 MONDO:0001543 False plantar nerve lesion lesion of sciatic nerve UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0001542 MONDO:0001543 False common peroneal nerve lesion lesion of sciatic nerve UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001542 MONDO:0004797 False common peroneal nerve lesion mononeuritis of lower limb UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0001543 MONDO:0001829 False lesion of sciatic nerve lumbosacral plexus lesion UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0001543 MONDO:0006960 False lesion of sciatic nerve sciatic neuropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0001543 MONDO:0024334 False lesion of sciatic nerve peripheral nerve lesion UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001544 MONDO:0004797 False tibial nerve palsy mononeuritis of lower limb UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001546 MONDO:0005095 False hypermobility of coccyx spondyloarthropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001547 MONDO:0003648 False atrophic nonflaccid tympanic membrane tympanic membrane disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001548 MONDO:0001711 False hepatic coma hepatic encephalopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001551 MONDO:0002187 False ulceration of vulva vulvar disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001553 MONDO:0001554 False phacolytic glaucoma phacogenic glaucoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001549 MONDO:0001531 False hemolytic-uremic syndrome blood coagulation disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0001553 MONDO:0007179 False phacolytic glaucoma autoimmune disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001554 MONDO:0005041 False phacogenic glaucoma glaucoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001556 MONDO:0004184 False urethral obstruction urethral disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001557 MONDO:0002183 False olecranon bursitis enthesopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001557 MONDO:0002471 False olecranon bursitis bursitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001558 MONDO:0002254 False Potter sequence syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0001558 MONDO:0005881 False Potter sequence oligohydramnios UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0001560 MONDO:0005020 False hypertrophic pyloric stenosis intestinal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001562 MONDO:0007721 False displacement of cardia through esophageal hiatus hiatus hernia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001563 MONDO:0002453 False vestibulocochlear nerve disorder retrocochlear disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001563 MONDO:0003620 False vestibulocochlear nerve disorder peripheral nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001565 MONDO:0001564 False abnormal retinal correspondence binocular vision disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001566 MONDO:0005557 False hypercalcemia disease calcium metabolic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001564 MONDO:0021084 False binocular vision disease vision disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0001567 MONDO:0002123 False nephrocalcinosis calcinosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001568 MONDO:0004750 False mixed receptive-expressive language disorder language disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0001571 MONDO:0001100 False gynecomastia disorder hypertrophy of breast UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001571 MONDO:0002145 False gynecomastia disorder disorder of sexual differentiation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001574 MONDO:0005385 False capillary disorder vascular disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001575 MONDO:0003617 False chronic gonococcal salpingitis chronic salpingitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0001575 MONDO:0021159 False chronic gonococcal salpingitis gonococcal salpingitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001576 MONDO:0005294 False telangiectasis peripheral vascular disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001576 MONDO:0021658 False telangiectasis vascular ectasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0001577 MONDO:0005856 False respiratory syncytial virus infectious disease Mononegavirales infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001579 MONDO:0000942 False corneal staphyloma corneal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001582 MONDO:0002043 False cicatricial ectropion ectropion UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001583 MONDO:0006626 False diabetic polyneuropathy diabetic neuropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001584 MONDO:0003569 False ocular motility disease cranial nerve neuropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001585 MONDO:0002491 False hallucinogen abuse substance abuse UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001577 MONDO:0024352 False respiratory syncytial virus infectious disease viral respiratory tract infection UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0001586 MONDO:0005328 False mucopolysaccharidosis type 1 eye disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0001586 MONDO:0005381 False mucopolysaccharidosis type 1 bone disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001588 MONDO:0004804 False chronic lacrimal gland enlargement dacryoadenitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0001590 MONDO:0006496 False quadriplegia palsy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001591 MONDO:0001519 False senile entropion entropion UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001592 MONDO:0002263 False prolapse of female genital organ female reproductive system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0001593 MONDO:0024634 False rectal disorder large intestine disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001594 MONDO:0002471 False Achilles bursitis bursitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0001594 MONDO:0004857 False Achilles bursitis tendinitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0001594 MONDO:0045004 False Achilles bursitis skeletal ligament disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001596 MONDO:0003117 False hypochondriasis somatoform disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001597 MONDO:0001142 False submandibular gland disorder salivary gland disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0001598 MONDO:0000586 False benign lymphoepithelial lesion of salivary gland autoimmune disorder of exocrine system UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001600 MONDO:0001142 False mucocele of salivary gland salivary gland disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0001602 MONDO:0002656 False labia minora carcinoma skin carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001603 MONDO:0001604 False paralytic lagophthalmos lagophthalmos UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001604 MONDO:0003382 False lagophthalmos eyelid disorder UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001607 MONDO:0001082 False intrapelvic lymph node leukemic reticuloendotheliosis lymph node cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0001607 MONDO:0018935 False intrapelvic lymph node leukemic reticuloendotheliosis hairy cell leukemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0001608 MONDO:0002638 False vagus nerve neoplasm glossopharyngeal nerve neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001610 MONDO:0004926 False acute dacryocystitis dacryocystitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0001610 MONDO:0020683 False acute dacryocystitis acute disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001611 MONDO:0004926 False phlegmonous dacryocystitis dacryocystitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0001613 MONDO:0020674 False vertebrobasilar insufficiency vascular insufficiency disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001614 MONDO:0001082 False intra-abdominal lymph node mast cell malignancy lymph node cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0001615 MONDO:0023865 False epidemic keratoconjunctivitis corneal infection UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0001615 MONDO:0043479 False epidemic keratoconjunctivitis adenoviridae infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0001615 MONDO:0043541 False epidemic keratoconjunctivitis viral conjunctivitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001616 MONDO:0002040 False lobomycosis dermatomycosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001617 MONDO:0001152 False transient global amnesia amnestic disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0001618 MONDO:0006672 False balanoposthitis balanitis UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0001618 MONDO:0021164 False balanoposthitis posthitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0001621 MONDO:0006956 False tick-borne relapsing fever Rickettsiosis UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0001621 MONDO:0025294 False tick-borne relapsing fever tick-borne infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001624 MONDO:0005964 False acute sphenoidal sinusitis sphenoid sinusitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0001624 MONDO:0020683 False acute sphenoidal sinusitis acute disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001625 MONDO:0003282 False corpus luteum cyst ovarian cyst UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001626 MONDO:0005041 False traumatic glaucoma glaucoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001629 MONDO:0007179 False Jaccoud syndrome autoimmune disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001631 MONDO:0005264 False vertebral artery insufficiency transient ischemic attack UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001628 MONDO:0024487 False tinea unguium nail infection UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0001631 MONDO:0020674 False vertebral artery insufficiency vascular insufficiency disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001632 MONDO:0002277 False intracranial arteriosclerosis arteriosclerosis disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001636 MONDO:0001519 False mechanical entropion entropion UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001637 MONDO:0001519 False cicatricial entropion entropion UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001638 MONDO:0001639 False protein-deficiency anemia deficiency anemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001639 MONDO:0002280 False deficiency anemia anemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001640 MONDO:0003937 False gonococcal spondylitis spondylitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001633 MONDO:0020673 False central retinal artery occlusion arterial occlusion UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0001640 MONDO:0004277 False gonococcal spondylitis gonorrhea UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0001642 MONDO:0005800 False hordeolum externum hordeolum UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0001643 MONDO:0001509 False exophthalmic ophthalmoplegia endocrine exophthalmos UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0001643 MONDO:0001835 False exophthalmic ophthalmoplegia facial paralysis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001643 MONDO:0003425 False exophthalmic ophthalmoplegia ophthalmoplegia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0001644 MONDO:0003134 False acute proliferative glomerulonephritis proliferative glomerulonephritis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0001644 MONDO:0020683 False acute proliferative glomerulonephritis acute disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001645 MONDO:0001644 False crescentic glomerulonephritis acute proliferative glomerulonephritis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001646 MONDO:0001200 False benign secondary hypertension secondary hypertension UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001647 MONDO:0001105 False benign renovascular hypertension renal hypertension UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001647 MONDO:0001646 False benign renovascular hypertension benign secondary hypertension UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001648 MONDO:0001649 False esophageal candidiasis fungal esophagitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001649 MONDO:0043424 False fungal esophagitis digestive system infectious disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0001649 MONDO:0100120 False fungal esophagitis vector-borne disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0001650 MONDO:0005247 False acute cystitis bacterial urinary tract infection UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0001650 MONDO:0020683 False acute cystitis acute disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0001653 MONDO:0002149 False prepuce cancer reproductive system cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001653 MONDO:0002898 False prepuce cancer skin cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001655 MONDO:0004843 False dissociated nystagmus pathologic nystagmus UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001663 MONDO:0002175 False hole retinal cyst degeneration of macula and posterior pole UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001664 MONDO:0007886 False submucous uterine fibroid uterine corpus leiomyoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0001666 MONDO:0001898 False retinal dystrophies primarily involving Bruch's membrane optic choroid disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001666 MONDO:0019118 False retinal dystrophies primarily involving Bruch's membrane inherited retinal dystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0001666 MONDO:0043218 False retinal dystrophies primarily involving Bruch's membrane neurovascular disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0001667 MONDO:0021678 False streptobacillus infectious disease gram-negative bacterial infections UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001668 MONDO:0001670 False internal pathological resorption of tooth tooth resorption UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001670 MONDO:0002220 False tooth resorption tooth hard tissue disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001671 MONDO:0005020 False mucocele of appendix intestinal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001672 MONDO:0000376 False bronchus cancer respiratory system cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0001672 MONDO:0002807 False bronchus cancer bronchial neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001673 MONDO:0004335 False diarrheal disease digestive system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001674 MONDO:0003409 False diverticulitis of colon colonic disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001674 MONDO:0004235 False diverticulitis of colon diverticulitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001676 MONDO:0002520 False erythropoietic protoporphyria hepatic porphyria UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001676 MONDO:0019142 False erythropoietic protoporphyria inherited porphyria UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0001678 MONDO:0002269 False intestinal tuberculosis gastroenteritis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001678 MONDO:0005768 False intestinal tuberculosis gastrointestinal tuberculosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001681 MONDO:0006032 False diphtheritic cystitis cystitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001682 MONDO:0004522 False diphtheritic peritonitis peritonitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001685 MONDO:0002314 False chronic follicular conjunctivitis chronic conjunctivitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001686 MONDO:0004744 False anatomical narrow angle borderline glaucoma borderline glaucoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001687 MONDO:0005129 False diabetic cataract cataract UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001689 MONDO:0001165 False hypertrophy of tongue papillae tongue disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001690 MONDO:0002314 False parasitic conjunctivitis chronic conjunctivitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0001691 MONDO:0002129 False laryngeal cartilage cancer bone cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001691 MONDO:0002352 False laryngeal cartilage cancer larynx cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001692 MONDO:0000596 False pedophilia paraphilic disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001694 MONDO:0004902 False diffuse interstitial keratitis interstitial keratitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001695 MONDO:0002043 False senile ectropion ectropion UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001697 MONDO:0004681 False reading disorder learning disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001698 MONDO:0004678 False tinea profunda dermatophytosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001701 MONDO:0005119 False gastrointestinal anthrax anthrax infection UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0001702 MONDO:0002656 False labia majora carcinoma skin carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001705 MONDO:0002280 False pure red-cell aplasia anemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0001706 MONDO:0005560 False cerebral sarcoidosis brain disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0001706 MONDO:0045047 False cerebral sarcoidosis neurosarcoidosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0001707 MONDO:0016345 False cardiac sarcoidosis non-familial restrictive cardiomyopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -11977,455 +19394,204 @@ MONDO:0001712 MONDO:0000685 False alexia visual agnosia UNSUPPORTED-MISSING UNSU MONDO:0001712 MONDO:0001697 False alexia reading disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0001712 MONDO:0002039 False alexia cognitive disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0001713 MONDO:0003847 False inherited aplastic anemia hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001713 MONDO:0015909 False inherited aplastic anemia aplastic anemia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0001714 MONDO:0005976 False bejel syphilis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001715 MONDO:0003718 False basilar artery occlusion occlusion precerebral artery UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0001715 MONDO:0020673 False basilar artery occlusion arterial occlusion UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001716 MONDO:0000942 False corneal argyrosis corneal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001717 MONDO:0001308 False posterior corneal pigmentation corneal deposit UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001719 MONDO:0002471 False gonococcal bursitis bursitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0001719 MONDO:0004277 False gonococcal bursitis gonorrhea UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001720 MONDO:0002400 False gonococcal synovitis synovitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0001720 MONDO:0041903 False gonococcal synovitis gonococcal infection of joint UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001721 MONDO:0004184 False urethral intrinsic sphincter deficiency urethral disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001722 MONDO:0001723 False central pterygium progressive peripheral pterygium UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001723 MONDO:0001055 False progressive peripheral pterygium conjunctival pterygium UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001727 MONDO:0007972 False active cochleovestibular Meniere disease Meniere disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001728 MONDO:0007972 False active vestibular Meniere disease Meniere disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001729 MONDO:0007972 False active cochlear Meniere disease Meniere disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001730 MONDO:0004184 False urethral syndrome urethral disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0001733 MONDO:0004634 False occlusion of tributary of retinal vein vein disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0001733 MONDO:0006951 False occlusion of tributary of retinal vein retinal vein occlusion UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001734 MONDO:0000426 False tuberous sclerosis autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001735 MONDO:0002436 False paranasal sinus disorder nasal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001735 MONDO:0005087 False paranasal sinus disorder respiratory system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001734 MONDO:0042983 False tuberous sclerosis neurocutaneous syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0001735 MONDO:0024654 False paranasal sinus disorder skull disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001736 MONDO:0006849 False neonatal infective mastitis mastitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001739 MONDO:0002008 False purulent labyrinthitis labyrinthitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0001740 MONDO:0010150 False cornea squamous cell carcinoma head and neck squamous cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001742 MONDO:0001868 False interval angle-closure glaucoma primary angle-closure glaucoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0001743 MONDO:0017814 False paranasal sinus lymphoma primary bone lymphoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001744 MONDO:0005041 False angle-closure glaucoma glaucoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001745 MONDO:0007886 False subserous uterine fibroid uterine corpus leiomyoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001746 MONDO:0002135 False optic disk drusen optic nerve disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001747 MONDO:0002183 False tibial collateral ligament bursitis enthesopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0001748 MONDO:0002131 False maxillary sinus carcinoma jaw cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0001748 MONDO:0006181 False maxillary sinus carcinoma digestive system carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001749 MONDO:0004847 False cortical senile cataract senile cataract UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0001749 MONDO:0045051 False cortical senile cataract cortical cataract UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0001750 MONDO:0006964 False non-renal secondary hyperparathyroidism secondary hyperparathyroidism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001751 MONDO:0002887 False cholestasis bile duct disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001752 MONDO:0004934 False alveolar periostitis periostitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0001752 MONDO:0006858 False alveolar periostitis mouth disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001753 MONDO:0002654 False female infertility of uterine origin uterine disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001756 MONDO:0000380 False frontal sinus cancer paranasal sinus carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001758 MONDO:0000380 False paranasal sinus sarcoma paranasal sinus carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001754 MONDO:0045048 False eclampsia toxemia of pregnancy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0001760 MONDO:0043459 False photokeratitis radiation-induced disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001761 MONDO:0005775 False favism G6PD deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001762 MONDO:0002325 False dentine erosion tooth erosion, non-bacterial UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001763 MONDO:0000380 False ethmoid sinus cancer paranasal sinus carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001765 MONDO:0001824 False polyneuropathy in collagen vascular disease polyneuropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001766 MONDO:0001854 False eversion of lacrimal punctum lacrimal apparatus disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001767 MONDO:0001854 False stenosis of lacrimal punctum lacrimal apparatus disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0001767 MONDO:0003382 False stenosis of lacrimal punctum eyelid disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001768 MONDO:0001854 False stenosis of lacrimal passage lacrimal apparatus disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0001768 MONDO:0003382 False stenosis of lacrimal passage eyelid disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0001769 MONDO:0044984 False acquired tear duct stenosis nasolacrimal duct disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001770 MONDO:0001933 False gastrin secretion abnormality endocrine pancreas disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001771 MONDO:0002127 False infective urethral stricture urethral stricture UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0001771 MONDO:0021669 False infective urethral stricture post-infectious disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001772 MONDO:0001593 False ulcer of anus and rectum rectal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001773 MONDO:0019956 False post-vaccinal encephalitis encephalitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001774 MONDO:0001718 False posterior scleritis scleritis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001775 MONDO:0002688 False chronic duodenal ileus duodenal obstruction UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001776 MONDO:0003105 False prostate calculus prostate disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001776 MONDO:0004828 False prostate calculus lower urinary tract calculus UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001777 MONDO:0001650 False acute gonococcal cystitis acute cystitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0001777 MONDO:0021160 False acute gonococcal cystitis gonococcal cystitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0001781 MONDO:0002373 False uterine corpus adenomatoid tumor benign mesothelioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001782 MONDO:0005129 False mature cataract cataract UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0001783 MONDO:0004526 False endometrial stromal nodule mixed endometrial stromal and smooth muscle tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0001784 MONDO:0000959 False malignant renovascular hypertension malignant hypertensive renal disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001784 MONDO:0001105 False malignant renovascular hypertension renal hypertension UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001784 MONDO:0001785 False malignant renovascular hypertension malignant secondary hypertension UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001785 MONDO:0001200 False malignant secondary hypertension secondary hypertension UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0001785 MONDO:0006846 False malignant secondary hypertension malignant hypertension UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001786 MONDO:0002654 False uterine inflammatory disease uterine disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001787 MONDO:0002405 False hepatic infarction hepatic vascular disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001788 MONDO:0002405 False nutmeg liver hepatic vascular disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0001791 MONDO:0005247 False neonatal urinary tract infectious disease bacterial urinary tract infection UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001792 MONDO:0001793 False epiphora due to insufficient drainage excessive tearing UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001793 MONDO:0001854 False excessive tearing lacrimal apparatus disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001794 MONDO:0003472 False Pthirus pubis infestation lice infestation UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001794 MONDO:0021201 False Pthirus pubis infestation skin infection UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0001795 MONDO:0024294 False plantar wart skin disorder caused by infection UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0001795 MONDO:0100329 False plantar wart primary viral infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001797 MONDO:0000314 False chancroid primary bacterial infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0001797 MONDO:0005323 False chancroid bacterial sexually transmitted disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0001797 MONDO:0006926 False chancroid haemophilus infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001798 MONDO:0006816 False hypermobility syndrome arthropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001799 MONDO:0001269 False localized anterior staphyloma scleral disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001800 MONDO:0001269 False equatorial staphyloma scleral disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001801 MONDO:0001269 False staphyloma posticum scleral disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0001802 MONDO:0020683 False acute tympanitis acute disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0001802 MONDO:0024616 False acute tympanitis tympanitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001803 MONDO:0003648 False myringitis bullosa hemorrhagica tympanic membrane disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001804 MONDO:0001718 False anterior scleritis scleritis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001805 MONDO:0004379 False female breast central part cancer female breast carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001808 MONDO:0002654 False chronic subinvolution of uterus uterine disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001809 MONDO:0002654 False adhesions of uterus uterine disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001810 MONDO:0003620 False hypoglossal nerve disorder peripheral nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001812 MONDO:0004785 False parasitic eyelid infestation blepharitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0001812 MONDO:0020947 False parasitic eyelid infestation parasitic eye infection UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001813 MONDO:0004785 False squamous blepharitis blepharitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001815 MONDO:0005395 False extrapyramidal and movement disease movement disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001816 MONDO:0001718 False scleroperikeratitis scleritis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0001816 MONDO:0003085 False scleroperikeratitis keratitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001817 MONDO:0001868 False acute closed-angle glaucoma primary angle-closure glaucoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0001817 MONDO:0020683 False acute closed-angle glaucoma acute disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001818 MONDO:0002098 False facial neuralgia facial nerve disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0001818 MONDO:0016374 False facial neuralgia cranial neuralgia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0001819 MONDO:0002782 False multiple cranial nerve palsy cranial nerve palsy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001820 MONDO:0002008 False focal labyrinthitis labyrinthitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001821 MONDO:0000947 False hypoactive sexual desire disorder psychosexual disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001822 MONDO:0002525 False hypolipoproteinemia inherited lipid metabolism disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001823 MONDO:0000469 False sick sinus syndrome sinoatrial node disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001823 MONDO:0002254 False sick sinus syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001824 MONDO:0005244 False polyneuropathy peripheral neuropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0001827 MONDO:0000253 False white piedra piedra UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0001827 MONDO:0000306 False white piedra trichosporonosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0001829 MONDO:0024432 False lumbosacral plexus lesion nerve plexus disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001830 MONDO:0003117 False somatization disorder somatoform disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001831 MONDO:0011284 False irregular astigmatism astigmatism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0001832 MONDO:0043424 False bacterial esophagitis digestive system infectious disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0001832 MONDO:0100120 False bacterial esophagitis vector-borne disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0001833 MONDO:0044984 False lacrimal duct obstruction nasolacrimal duct disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0001834 MONDO:0005560 False visual pathway disorder brain disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001834 MONDO:0021084 False visual pathway disorder vision disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0001835 MONDO:0006496 False facial paralysis palsy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001837 MONDO:0001173 False acute gonococcal salpingitis acute salpingitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0001837 MONDO:0021159 False acute gonococcal salpingitis gonococcal salpingitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0001838 MONDO:0020683 False acute gonococcal prostatitis acute disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0001838 MONDO:0021161 False acute gonococcal prostatitis gonococcal prostatitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001843 MONDO:0007886 False uterus interstitial leiomyoma uterine corpus leiomyoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001847 MONDO:0004847 False nuclear senile cataract senile cataract UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0001847 MONDO:0045050 False nuclear senile cataract nuclear cataract UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0001848 MONDO:0045049 False Morgagni cataract hypermature cataract UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001849 MONDO:0004751 False chronic orbital inflammation disease of orbital part of eye adnexa UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001850 MONDO:0004379 False female breast lower-outer quadrant cancer female breast carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001851 MONDO:0001854 False primary lacrimal atrophy lacrimal apparatus disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001853 MONDO:0002307 False contact blepharoconjunctivitis blepharoconjunctivitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0001854 MONDO:0000462 False lacrimal apparatus disorder eye adnexa disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001855 MONDO:0005283 False rubeosis iridis retinal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001856 MONDO:0000473 False splenic artery aneurysm arterial disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001857 MONDO:0005683 False Brucella canis brucellosis brucellosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001858 MONDO:0002254 False Tietze syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0001858 MONDO:0006816 False Tietze syndrome arthropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001859 MONDO:0019369 False algoneurodystrophy complex regional pain syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001860 MONDO:0006873 False folic acid deficiency anemia nutritional deficiency disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001861 MONDO:0006294 False malignant parietal pleura tumor pleural cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001862 MONDO:0006294 False malignant visceral pleura tumor pleural cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001863 MONDO:0005561 False aorta atresia aortic disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001864 MONDO:0001868 False residual stage angle-closure glaucoma primary angle-closure glaucoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001866 MONDO:0004985 False bipolar I disorder bipolar disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0001867 MONDO:0002312 False phaeohyphomycosis opportunistic mycosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0001867 MONDO:0044083 False phaeohyphomycosis alternariosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001868 MONDO:0001744 False primary angle-closure glaucoma angle-closure glaucoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0001869 MONDO:0001528 False paraurethral gland cancer vulva cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0001869 MONDO:0002219 False paraurethral gland cancer paraurethral gland neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001870 MONDO:0002462 False acute poststreptococcal glomerulonephritis glomerulonephritis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0001870 MONDO:0020683 False acute poststreptococcal glomerulonephritis acute disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0001871 MONDO:0020683 False acute diffuse glomerulonephritis acute disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0001873 MONDO:0021166 False geniculate ganglionitis inflammatory disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0001873 MONDO:0021260 False geniculate ganglionitis sensory ganglionopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001874 MONDO:0002008 False toxic labyrinthitis labyrinthitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001875 MONDO:0002614 False epicondylitis bone inflammation disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0001875 MONDO:0021166 False epicondylitis inflammatory disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0001876 MONDO:0000980 False renal artery atheroma aortic atherosclerosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001876 MONDO:0002286 False renal artery atheroma renal artery disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001877 MONDO:0005372 False infertility due to extratesticular cause male infertility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0001878 MONDO:0001560 False acquired hypertrophic pyloric stenosis hypertrophic pyloric stenosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0001879 MONDO:0006519 False anus cancer rectal cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001880 MONDO:0006771 False median rhomboid glossitis glossitis UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001881 MONDO:0000315 False toxic shock syndrome commensal bacterial infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001882 MONDO:0002118 False bacteriuria urinary system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001883 MONDO:0005568 False blue toe syndrome cholesterol embolism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001887 MONDO:0002263 False Allen-Masters syndrome female reproductive system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001881 MONDO:0002254 False toxic shock syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0001887 MONDO:0045043 False Allen-Masters syndrome disorder of uterine broad ligament UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0001888 MONDO:0002166 False anus lymphoma rectum lymphoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001890 MONDO:0002325 False pulp erosion tooth erosion, non-bacterial UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0001890 MONDO:0003394 False pulp erosion dental pulp disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0001895 MONDO:0020683 False acute retrobulbar neuritis acute disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0001895 MONDO:0024335 False acute retrobulbar neuritis retrobulbar neuritis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001897 MONDO:0002467 False bilateral hyperactive labyrinth inner ear disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0001898 MONDO:0005552 False optic choroid disorder ocular vascular disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001899 MONDO:0005009 False rheumatic congestive heart failure congestive heart failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0001899 MONDO:0006955 False rheumatic congestive heart failure rheumatic heart disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0001901 MONDO:0015697 False selective IgG subclass deficiency immunoglobulin heavy chain deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0001901 MONDO:0045045 False selective IgG subclass deficiency selective IgG immunodeficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0001902 MONDO:0009332 False congenital agammaglobulinemia congenital hematological disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0001902 MONDO:0015977 False congenital agammaglobulinemia agammaglobulinemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001903 MONDO:0004857 False calcific tendinitis tendinitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0001904 MONDO:0001824 False polyneuropathy due to drug polyneuropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001905 MONDO:0004855 False bicipital tenosynovitis tenosynovitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0001906 MONDO:0001176 False posterior dislocation of lens lens disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0001909 MONDO:0006022 False renal tubular acidosis acidosis disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001909 MONDO:0006510 False renal tubular acidosis renal tubular transport disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0001909 MONDO:0021568 False renal tubular acidosis renal tubule disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001910 MONDO:0003900 False ochronosis disorder connective tissue disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0001910 MONDO:0005172 False ochronosis disorder skeletal system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0001910 MONDO:0045022 False ochronosis disorder disorder of organic acid metabolism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001911 MONDO:0002567 False tracheal calcification tracheal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001912 MONDO:0001121 False acute frontal sinusitis frontal sinusitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0001912 MONDO:0020683 False acute frontal sinusitis acute disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001913 MONDO:0005372 False oligospermia male infertility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0001914 MONDO:0040699 False scleromalacia perforans necrotizing scleritis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001915 MONDO:0004751 False orbital cyst disease of orbital part of eye adnexa UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001917 MONDO:0002246 False chronic perichondritis of pinna perichondritis of auricle UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001918 MONDO:0001793 False epiphora due to excess lacrimation excessive tearing UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001919 MONDO:0002175 False cystoid macular retinal degeneration degeneration of macula and posterior pole UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001920 MONDO:0005975 False chronic purulent otitis media suppurative otitis media UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0001920 MONDO:0021204 False chronic purulent otitis media chronic otitis media UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001921 MONDO:0001920 False chronic atticoantral disease chronic purulent otitis media UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001922 MONDO:0001926 False pyoureter ureteral disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001922 MONDO:0005227 False pyoureter abscess UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0001922 MONDO:0100338 False pyoureter urinary tract infection UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001925 MONDO:0019118 False retinal dystrophy in systemic or cerebroretinal lipidoses inherited retinal dystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0001930 MONDO:0020683 False acute cholangitis acute disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001931 MONDO:0004789 False pericholangitis cholangitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001935 MONDO:0006816 False neurogenic arthropathy arthropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001936 MONDO:0001804 False brawny scleritis anterior scleritis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0001940 MONDO:0000986 False pleuropneumonia pleurisy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001940 MONDO:0005249 False pleuropneumonia pneumonia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001944 MONDO:0005136 False mixed malaria malaria UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001941 MONDO:0021084 False blindness (disorder) vision disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0001945 MONDO:0021095 False postencephalitic Parkinson disease parkinsonian disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001949 MONDO:0004126 False acute thyroiditis thyroiditis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0001949 MONDO:0020683 False acute thyroiditis acute disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001950 MONDO:0000942 False corneal ectasia corneal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001952 MONDO:0002731 False parietal lobe cancer cerebral hemisphere cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0001952 MONDO:0021373 False parietal lobe cancer neoplasm of parietal lobe UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001953 MONDO:0002118 False pyuria urinary system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001954 MONDO:0002800 False thrombophlebitis migrans thrombophlebitis UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001955 MONDO:0001517 False protozoal dysentery dysentery UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0001955 MONDO:0002428 False protozoal dysentery protozoa infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0001955 MONDO:0024270 False protozoal dysentery parasitic intestinal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001956 MONDO:0001574 False capillary leak syndrome capillary disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001956 MONDO:0002254 False capillary leak syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0001957 MONDO:0001824 False critical illness polyneuropathy polyneuropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001959 MONDO:0002467 False labyrinthine bilateral reactive loss inner ear disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001962 MONDO:0001933 False abnormality of glucagon secretion endocrine pancreas disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001964 MONDO:0005975 False chronic tubotympanic suppurative otitis media suppurative otitis media UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0001965 MONDO:0001804 False sclerosing keratitis anterior scleritis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001965 MONDO:0004903 False sclerosing keratitis deep keratitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001966 MONDO:0001868 False chronic closed-angle glaucoma primary angle-closure glaucoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0001967 MONDO:0002146 False gonadal dysgenesis hypogonadism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0001969 MONDO:0019499 False mixed gonadal dysgenesis Turner syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001971 MONDO:0017853 False farmer's lung disease hypersensitivity pneumonitis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0001971 MONDO:0022736 False farmer's lung disease occupational lung disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001972 MONDO:0005683 False Brucella melitensis brucellosis brucellosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001973 MONDO:0005683 False Brucella abortus brucellosis brucellosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001976 MONDO:0001595 False chorea gravidarum choreatic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0001976 MONDO:0024575 False chorea gravidarum pregnancy disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001979 MONDO:0004566 False dumping syndrome postgastrectomy syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001979 MONDO:0002254 False dumping syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0001982 MONDO:0015531 False Niemann-Pick disease non-Langerhans cell histiocytosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001983 MONDO:0001515 False peripheral degeneration of cornea corneal degeneration UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001984 MONDO:0002026 False candidal paronychia candidiasis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001986 MONDO:0001303 False Argyll Robertson pupil abnormal pupillary function UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0001987 MONDO:0005559 False senile degeneration of brain neurodegenerative disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001988 MONDO:0001670 False external pathological resorption tooth resorption UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001989 MONDO:0006771 False atrophic glossitis glossitis UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0001992 MONDO:0005447 False rete testis adenocarcinoma testicular cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0001993 MONDO:0005447 False seminal vesicle adenocarcinoma testicular cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001994 MONDO:0000380 False sphenoidal sinus cancer paranasal sinus carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001996 MONDO:0004744 False steroid-induced glaucoma - borderline borderline glaucoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001997 MONDO:0001670 False root resorption tooth resorption UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001998 MONDO:0002003 False Foster-Kennedy syndrome papilledema UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001999 MONDO:0001493 False primary pulmonary hypertension chronic pulmonary heart disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002000 MONDO:0006670 False anaerobic meningitis bacterial meningitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0002000 MONDO:0024389 False anaerobic meningitis anaerobic bacteria infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002002 MONDO:0005420 False postsurgical hypothyroidism hypothyroidism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002003 MONDO:0002135 False papilledema optic nerve disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002004 MONDO:0005240 False atheroembolism of kidney kidney disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002004 MONDO:0005568 False atheroembolism of kidney cholesterol embolism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002006 MONDO:0002008 False serous labyrinthitis labyrinthitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002010 MONDO:0002254 False FG syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002010 MONDO:0003847 False FG syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002012 MONDO:0000688 False methylmalonic acidemia inborn organic aciduria UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002013 MONDO:0000629 False lymphangioma cardiovascular organ benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002008 MONDO:0021166 False labyrinthitis inflammatory disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0002013 MONDO:0036976 False lymphangioma benign epithelial neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002014 MONDO:0006025 False autosomal recessive Ehlers-Danlos syndrome, vascular type autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0002014 MONDO:0017314 False autosomal recessive Ehlers-Danlos syndrome, vascular type Ehlers-Danlos syndrome, vascular type UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002016 MONDO:0000412 False benign familial neonatal epilepsy neonatal period electroclinical syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002017 MONDO:0005559 False olivopontocerebellar atrophy neurodegenerative disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002021 MONDO:0002635 False gingival disorder periodontal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0002021 MONDO:0044992 False gingival disorder mouth mucosa disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0002022 MONDO:0700096 False disorder of orbital region human disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0002025 MONDO:0700096 False psychiatric disorder human disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002026 MONDO:0002312 False candidiasis opportunistic mycosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002029 MONDO:0002030 False chronic gonorrhea of cervix chronic cervicitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0002029 MONDO:0021157 False chronic gonorrhea of cervix gonococcal cervicitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0002031 MONDO:0003409 False cecal disorder colonic disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0002032 MONDO:0024479 False colon carcinoma epithelial tumor of colon UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002037 MONDO:0000270 False pleural disorder lower respiratory tract disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002040 MONDO:0000254 False dermatomycosis cutaneous mycosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002042 MONDO:0002043 False mechanical ectropion ectropion UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002043 MONDO:0003382 False ectropion eyelid disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002044 MONDO:0002043 False spastic ectropion ectropion UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002046 MONDO:0002491 False alcohol abuse substance abuse UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0002046 MONDO:0021698 False alcohol abuse alcohol-related disorders UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002047 MONDO:0005100 False pulmonary systemic sclerosis systemic sclerosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002047 MONDO:0005275 False pulmonary systemic sclerosis lung disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0002049 MONDO:0002245 False thrombocytopenia blood platelet disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0002051 MONDO:0700096 False integumentary system disorder human disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0002052 MONDO:0021166 False lymphadenitis inflammatory disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002056 MONDO:0000620 False breast fibroadenoma breast benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002064 MONDO:0001574 False breast angiomatosis capillary disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0002065 MONDO:0036976 False benign breast adenomyoepithelioma benign epithelial neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002067 MONDO:0004379 False female breast upper-inner quadrant cancer female breast carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002068 MONDO:0004379 False female breast lower-inner quadrant cancer female breast carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002069 MONDO:0004379 False female breast axillary tail cancer female breast carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002070 MONDO:0002078 False ventricular septal defect heart septal defect UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0002070 MONDO:0003847 False ventricular septal defect hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0002072 MONDO:0005462 False melanotic neuroectodermal tumor primitive neuroectodermal tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002075 MONDO:0002076 False spontaneous tension pneumothorax pneumothorax UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002077 MONDO:0005918 False low implantation of placenta placenta praevia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0002081 MONDO:0700096 False musculoskeletal system disorder human disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0002083 MONDO:0021058 False Richter syndrome neoplastic syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0002083 MONDO:0024882 False Richter syndrome secondary neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002085 MONDO:0005395 False benign shuddering attacks movement disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0002089 MONDO:0020672 False retinal vascular occlusion vascular occlusion disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002098 MONDO:0003620 False facial nerve disorder peripheral nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002099 MONDO:0018312 False Histoplasma capsulatum infectious disease histoplasmosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0002102 MONDO:0021166 False cheilitis inflammatory disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002104 MONDO:0003117 False conversion disorder somatoform disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002105 MONDO:0001273 False toxic megacolon megacolon UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002106 MONDO:0002467 False labyrinthine unilateral reactive loss inner ear disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002107 MONDO:0002467 False unilateral hyperactive labyrinth inner ear disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002108 MONDO:0021069 False thyroid cancer malignant endocrine neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0002109 MONDO:0002132 False pituitary cancer skull cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0002109 MONDO:0003766 False pituitary cancer thalamic cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002109 MONDO:0021069 False pituitary cancer malignant endocrine neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0002112 MONDO:0002373 False benign peritoneal mesothelioma benign mesothelioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002113 MONDO:0002087 False peritoneal carcinoma peritoneum cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002113 MONDO:0004993 False peritoneal carcinoma carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0002118 MONDO:0700096 False urinary system disorder human disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002119 MONDO:0000631 False ossifying fibroma bone benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002121 MONDO:0001397 False mononeuritis simplex mononeuropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0002121 MONDO:0002122 False mononeuritis simplex neuritis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0002122 MONDO:0021166 False neuritis inflammatory disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002123 MONDO:0005557 False calcinosis calcium metabolic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002124 MONDO:0001854 False secondary lacrimal atrophy lacrimal apparatus disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002125 MONDO:0005027 False status epilepticus epilepsy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002127 MONDO:0001556 False urethral stricture urethral obstruction UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002128 MONDO:0003607 False mononeuritis multiplex neuritis of upper limb UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002129 MONDO:0000637 False bone cancer musculoskeletal system cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002130 MONDO:0002121 False upper limb mononeuronitis mononeuritis simplex UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002130 MONDO:0003607 False upper limb mononeuronitis neuritis of upper limb UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0002131 MONDO:0002132 False jaw cancer skull cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0002131 MONDO:0002516 False jaw cancer digestive system cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0002131 MONDO:0021580 False jaw cancer neoplasm of jaw UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002132 MONDO:0002129 False skull cancer bone cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0002132 MONDO:0005627 False skull cancer head and neck cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0002132 MONDO:0024653 False skull cancer skull neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0002133 MONDO:0024655 False chronic rheumatic pericarditis rheumatic pericarditis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002134 MONDO:0005039 False physiological sexual disorder reproductive system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0002135 MONDO:0002602 False optic nerve disorder central nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0002135 MONDO:0024458 False optic nerve disorder disorder of visual system UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002136 MONDO:0002137 False eczematous dermatitis of eyelid noninfectious dermatoses of eyelid UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002137 MONDO:0004785 False noninfectious dermatoses of eyelid blepharitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002138 MONDO:0002137 False allergic contact dermatitis of eyelid noninfectious dermatoses of eyelid UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0002138 MONDO:0005551 False allergic contact dermatitis of eyelid eye allergy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0002138 MONDO:0006525 False allergic contact dermatitis of eyelid allergic contact dermatitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002139 MONDO:0003409 False sigmoid disease colonic disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0002142 MONDO:0005509 False undifferentiated pleomorphic sarcoma histiocytoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002142 MONDO:0021054 False undifferentiated pleomorphic sarcoma bone sarcoma UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0002143 MONDO:0016094 False vaginal yolk sac tumor vaginal germ cell malignant tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002145 MONDO:0002259 False disorder of sexual differentiation gonadal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002145 MONDO:0019755 False disorder of sexual differentiation developmental defect during embryogenesis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002150 MONDO:0003081 False hypothalamic disorder thalamic disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002152 MONDO:0003432 False intermittent squint strabismus UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002155 MONDO:0004789 False cholecystitis cholangitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002163 MONDO:0005106 False thymus lipoma lipoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002155 MONDO:0005281 False cholecystitis gallbladder disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0002163 MONDO:0021512 False thymus lipoma benign neoplasm of thymus UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002164 MONDO:0004674 False focal chorioretinitis chorioretinitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0002165 MONDO:0001593 False rectal neoplasm rectal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002170 MONDO:0002172 False chronic eustachian salpingitis otosalpingitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0002170 MONDO:0021204 False chronic eustachian salpingitis chronic otitis media UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002172 MONDO:0005441 False otosalpingitis otitis media UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002174 MONDO:0002175 False preretinal fibrosis degeneration of macula and posterior pole UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002175 MONDO:0003004 False degeneration of macula and posterior pole macular degeneration UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002173 MONDO:0003620 False neuroma peripheral nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0002177 MONDO:0001933 False hyperinsulinism endocrine pancreas disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002177 MONDO:0002908 False hyperinsulinism glucose metabolism disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002178 MONDO:0002715 False placenta cancer uterine cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002181 MONDO:0002185 False exostosis hyperostosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002182 MONDO:0000592 False communication disorder specific developmental disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002183 MONDO:0002081 False enthesopathy musculoskeletal system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002183 MONDO:0003900 False enthesopathy connective tissue disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002184 MONDO:0002251 False drug-induced hepatitis hepatitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0002184 MONDO:0005359 False drug-induced hepatitis drug-induced liver injury UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002185 MONDO:0000833 False hyperostosis bone remodeling disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002186 MONDO:0005842 False acute maxillary sinusitis maxillary sinusitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0002186 MONDO:0020683 False acute maxillary sinusitis acute disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002192 MONDO:0000643 False vulvar angiokeratoma vulvar benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0002192 MONDO:0003954 False vulvar angiokeratoma angiokeratoma of Fordyce UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002193 MONDO:0000626 False Bartholin gland benign neoplasm vestibular gland benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0002193 MONDO:0000652 False Bartholin gland benign neoplasm integumentary system benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0002193 MONDO:0021114 False Bartholin gland benign neoplasm Bartholin gland neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002196 MONDO:0006807 False perinatal intestinal perforation intestinal perforation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002197 MONDO:0000626 False minor vestibular glands adenoma vestibular gland benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0002197 MONDO:0002219 False minor vestibular glands adenoma paraurethral gland neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0002197 MONDO:0004177 False minor vestibular glands adenoma benign urethral neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002200 MONDO:0002090 False eccrine mixed tumor of skin eccrine sweat gland neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0002203 MONDO:0004880 False constipation disorder bowel dysfunction UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0002204 MONDO:0001429 False transient arthritis transient arthropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0002204 MONDO:0005578 False transient arthritis arthritic joint disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002209 MONDO:0002181 False heel spur exostosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002211 MONDO:0003778 False B cell deficiency inborn error of immunity UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0002211 MONDO:0004805 False B cell deficiency leukocyte disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002212 MONDO:0018077 False pneumonic tularemia tularemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002218 MONDO:0002731 False temporal lobe cancer cerebral hemisphere cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002211 MONDO:0021094 False B cell deficiency immunodeficiency disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0002218 MONDO:0021372 False temporal lobe cancer neoplasm of temporal lobe UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0002219 MONDO:0021049 False paraurethral gland neoplasm vulvar neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002220 MONDO:0006999 False tooth hard tissue disease tooth disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0002224 MONDO:0003282 False malignant ovarian cyst ovarian cyst UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002224 MONDO:0008170 False malignant ovarian cyst ovarian cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002226 MONDO:0006002 False tuberculous oophoritis urogenital tuberculosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0002226 MONDO:0006877 False tuberculous oophoritis oophoritis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002232 MONDO:0002436 False nasal cavity disorder nasal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002232 MONDO:0004867 False nasal cavity disorder upper respiratory tract disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002233 MONDO:0005276 False enamel caries dental caries UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0002234 MONDO:0021166 False vaginitis inflammatory disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002235 MONDO:0002531 False eyelid neoplasm skin neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002236 MONDO:0000649 False ocular cancer sensory system cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0002236 MONDO:0005627 False ocular cancer head and neck cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002237 MONDO:0002922 False carbuncle pyoderma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002238 MONDO:0021063 False ascending colon cancer malignant colon neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002239 MONDO:0001933 False post-surgical hypoinsulinemia endocrine pancreas disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0002240 MONDO:0001051 False acute perichondritis of pinna acute otitis externa UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002240 MONDO:0002246 False acute perichondritis of pinna perichondritis of auricle UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0002241 MONDO:0002242 False factor XIII deficiency coagulation protein disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0002242 MONDO:0001531 False coagulation protein disease blood coagulation disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0002244 MONDO:0002242 False factor VII deficiency coagulation protein disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0002244 MONDO:0002243 False factor VII deficiency hemorrhagic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002246 MONDO:0004795 False perichondritis of auricle otitis externa UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002245 MONDO:0005570 False blood platelet disease hematologic disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0002247 MONDO:0002242 False factor X deficiency coagulation protein disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0002247 MONDO:0002243 False factor X deficiency hemorrhagic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0002249 MONDO:0002245 False thrombocytosis disease blood platelet disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002250 MONDO:0000473 False basilar artery insufficiency arterial disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0002250 MONDO:0020674 False basilar artery insufficiency vascular insufficiency disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0002251 MONDO:0021166 False hepatitis inflammatory disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002253 MONDO:0000836 False spondylosis disease of bone structure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0002254 MONDO:0700096 False syndromic disease human disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002255 MONDO:0002256 False hypertrophic elongation of cervix cervix disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002257 MONDO:0006816 False ankylosis arthropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002258 MONDO:0004867 False pharyngitis upper respiratory tract disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0002258 MONDO:0021166 False pharyngitis inflammatory disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002259 MONDO:0005151 False gonadal disorder endocrine system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002259 MONDO:0005039 False gonadal disorder reproductive system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0002260 MONDO:0021166 False hidradenitis inflammatory disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0002260 MONDO:0024467 False hidradenitis apocrine sweat gland disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002262 MONDO:0001574 False capillary lymphangioma capillary disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002262 MONDO:0002013 False capillary lymphangioma lymphangioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002262 MONDO:0024286 False capillary lymphangioma benign blood vessel neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002265 MONDO:0000592 False stereotypic movement disorder specific developmental disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0002266 MONDO:0000266 False malt worker's lung pulmonary aspergilloma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0002266 MONDO:0015243 False malt worker's lung allergic bronchopulmonary aspergillosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002266 MONDO:0017853 False malt worker's lung hypersensitivity pneumonitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002267 MONDO:0005275 False obstructive lung disease lung disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0002268 MONDO:0001318 False dyspepsia functional gastric disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0002269 MONDO:0005020 False gastroenteritis intestinal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002272 MONDO:0002273 False polyclonal hypergammaglobulinemia plasma protein metabolism disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002273 MONDO:0019052 False plasma protein metabolism disease inborn errors of metabolism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002274 MONDO:0002273 False monoclonal paraproteinemia disease plasma protein metabolism disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002269 MONDO:0021166 False gastroenteritis inflammatory disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0002270 MONDO:0043424 False viral gastritis digestive system infectious disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0002274 MONDO:0004960 False monoclonal paraproteinemia disease monoclonal gammopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0002282 MONDO:0005763 False West Nile fever Flaviviridae infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0002282 MONDO:0100120 False West Nile fever vector-borne disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -12437,260 +19603,148 @@ MONDO:0002290 MONDO:0024877 False clitoris cancer clitoris neoplasm UNSUPPORTED- MONDO:0002293 MONDO:0002898 False cutaneous ganglioneuroma skin cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0002297 MONDO:0024481 False epidermal appendage tumor skin appendage disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0002300 MONDO:0021154 False dermis tumor dermis disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002303 MONDO:0004634 False central retinal vein occlusion vein disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002306 MONDO:0002307 False angular blepharoconjunctivitis blepharoconjunctivitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0002307 MONDO:0003799 False blepharoconjunctivitis conjunctivitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002307 MONDO:0004785 False blepharoconjunctivitis blepharitis UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0002308 MONDO:0002307 False giant papillary conjunctivitis blepharoconjunctivitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002310 MONDO:0005328 False anterior dislocation of lens eye disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002311 MONDO:0005552 False retinal vascular disorder ocular vascular disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0002311 MONDO:0043218 False retinal vascular disorder neurovascular disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002312 MONDO:0002041 False opportunistic mycosis fungal infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002317 MONDO:0005560 False central nervous system origin vertigo brain disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002322 MONDO:0005385 False angiodysplasia vascular disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002325 MONDO:0006999 False tooth erosion, non-bacterial tooth disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0002326 MONDO:0005084 False alcohol-induced mental disorder mental disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0002327 MONDO:0003641 False intracranial cavernous angioma central nervous system hematopoietic neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0002328 MONDO:0003241 False intracranial hemangioma central nervous system hemangioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0002328 MONDO:0021451 False intracranial hemangioma benign neoplasm of brain UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002329 MONDO:0002259 False testicular disorder gonadal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002330 MONDO:0002326 False alcoholic psychosis alcohol-induced mental disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002330 MONDO:0005485 False alcoholic psychosis psychotic disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0002330 MONDO:0021698 False alcoholic psychosis alcohol-related disorders UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002331 MONDO:0005240 False nephrosis kidney disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002332 MONDO:0005833 False splenic disorder lymphatic system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002334 MONDO:0005570 False hematopoietic and lymphoid system neoplasm hematologic disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002333 MONDO:0005227 False splenic abscess abscess UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0002335 MONDO:0003334 False chronic inflammatory demyelinating polyneuritis demyelinating polyneuropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0002335 MONDO:0003335 False chronic inflammatory demyelinating polyneuritis chronic polyneuropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0002335 MONDO:0021166 False chronic inflammatory demyelinating polyneuritis inflammatory disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002342 MONDO:0003816 False chondromalacia articular cartilage disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002347 MONDO:0005303 False barbiturate dependence drug dependence UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002341 MONDO:0043494 False granulomatous angiitis arteritis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0002350 MONDO:0100191 False familial nephrotic syndrome inherited kidney disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002352 MONDO:0000376 False larynx cancer respiratory system cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002354 MONDO:0000382 False benign laryngeal neoplasm respiratory system benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002356 MONDO:0005151 False pancreas disorder endocrine system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002357 MONDO:0002238 False hepatic flexure cancer ascending colon cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002356 MONDO:0004335 False pancreas disorder digestive system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0002360 MONDO:0000636 False chondroma musculoskeletal system benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0002360 MONDO:0005172 False chondroma skeletal system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0002360 MONDO:0021581 False chondroma connective tissue neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002361 MONDO:0021063 False transverse colon cancer malignant colon neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0002365 MONDO:0021163 False kidney hemangiopericytoma kidney neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0002366 MONDO:0001292 False autonomic nervous system neoplasm autonomic nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0002366 MONDO:0006130 False autonomic nervous system neoplasm central nervous system neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002369 MONDO:0004972 False cystadenoma adenoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0002373 MONDO:0005065 False benign mesothelioma mesothelioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002373 MONDO:0005165 False benign mesothelioma benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0002380 MONDO:0005626 False myoepithelial tumor epithelial neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002381 MONDO:0006615 False sweat gland neoplasm sweat gland disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0002382 MONDO:0005165 False benign mesenchymoma benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002385 MONDO:0002513 False benign cystic nephroma kidney benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0002386 MONDO:0003272 False mixed epithelial stromal tumor of the kidney mixed epithelial stromal tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0002388 MONDO:0021097 False intracystic papillary adenoma intraductal breast papilloma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0002395 MONDO:0036976 False renal adenoma benign epithelial neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0002398 MONDO:0036976 False mucinous adenofibroma benign epithelial neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002400 MONDO:0003900 False synovitis connective tissue disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0002400 MONDO:0005578 False synovitis arthritic joint disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0002400 MONDO:0043786 False synovitis serositis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0002400 MONDO:0056799 False synovitis synovium disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0002402 MONDO:0002171 False malignant giant cell tumor giant cell tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002403 MONDO:0000637 False synovium cancer musculoskeletal system cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002404 MONDO:0000627 False liver hemangioma benign endocrine neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0002406 MONDO:0021166 False dermatitis inflammatory disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0002408 MONDO:0017755 False hereditary hyperbilirubinemia inborn disorder of bilirubin metabolism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0002408 MONDO:0024288 False hereditary hyperbilirubinemia hyperbilirubinemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0002409 MONDO:0700096 False auditory system disorder human disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002410 MONDO:0006938 False pyeloureteritis cystica pyelitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002412 MONDO:0019214 False disorder of glycogen metabolism inborn carbohydrate metabolic disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0002412 MONDO:0019243 False disorder of glycogen metabolism inborn disorder of energy metabolism UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002415 MONDO:0002129 False bone carcinoma bone cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002415 MONDO:0004993 False bone carcinoma carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002419 MONDO:0002420 False transient tic disorder tic disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002420 MONDO:0000592 False tic disorder specific developmental disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002419 MONDO:0005395 False transient tic disorder movement disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0002422 MONDO:0002415 False adamantinoma bone carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002423 MONDO:0006971 False rectosigmoid junction neoplasm sigmoid neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0002424 MONDO:0002032 False rectosigmoid carcinoma colon carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0002424 MONDO:0044937 False rectosigmoid carcinoma rectal carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002425 MONDO:0001464 False rectosigmoid junction cancer sigmoid colon cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0002425 MONDO:0006519 False rectosigmoid junction cancer rectal cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002427 MONDO:0005560 False cerebellar disorder brain disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0002429 MONDO:0700007 False idiopathic interstitial pneumonia idiopathic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002432 MONDO:0004532 False malignant neoplasm of acoustic nerve auditory system cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0002433 MONDO:0005627 False malignant cranial nerve neoplasm head and neck cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0002433 MONDO:0021089 False malignant cranial nerve neoplasm peripheral nervous system cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0002436 MONDO:0024623 False nasal disorder otorhinolaryngologic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0002437 MONDO:0016541 False dehydration polycythemia acquired secondary polycythemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002438 MONDO:0005571 False acquired polycythemia polycythemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0002440 MONDO:0016541 False erythropoietin polycythemia acquired secondary polycythemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002441 MONDO:0019171 False Jervell and Lange-Nielsen syndrome familial long QT syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0002442 MONDO:0002254 False long QT syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0002442 MONDO:0005453 False long QT syndrome congenital heart disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002443 MONDO:0003406 False bruxism sleep-wake disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002444 MONDO:0002050 False melancholia depressive disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0002447 MONDO:0005213 False endometrial carcinoma uterine carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0002448 MONDO:0018078 False laryngeal sarcoma soft tissue sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002449 MONDO:0001515 False nodular degeneration of cornea corneal degeneration UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0002451 MONDO:0004180 False benign prostate phyllodes tumor benign urinary system neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002453 MONDO:0002409 False retrocochlear disease auditory system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002457 MONDO:0000426 False Treacher-Collins syndrome autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002457 MONDO:0015161 False Treacher-Collins syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002457 MONDO:0015483 False Treacher-Collins syndrome mandibulofacial dysostosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002457 MONDO:0018751 False Treacher-Collins syndrome hereditary otorhinolaryngologic disease UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002460 MONDO:0002236 False lacrimal system cancer ocular cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0002462 MONDO:0019722 False glomerulonephritis glomerular disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0002466 MONDO:0002038 False eye carcinoma head and neck carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002468 MONDO:0002211 False hyperimmunoglobulin syndrome B cell deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002470 MONDO:0018053 False photosensitive trichothiodystrophy trichothiodystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002467 MONDO:0021205 False inner ear disorder disorder of ear UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0002470 MONDO:0021190 False photosensitive trichothiodystrophy DNA repair disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0002470 MONDO:0043459 False photosensitive trichothiodystrophy radiation-induced disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002471 MONDO:0006816 False bursitis arthropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0002471 MONDO:0021166 False bursitis inflammatory disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0002471 MONDO:0056802 False bursitis synovial bursa disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0002472 MONDO:0002380 False carcinoma ex pleomorphic adenoma myoepithelial tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002474 MONDO:0019214 False primary hyperoxaluria inborn carbohydrate metabolic disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002476 MONDO:0005240 False anuria kidney disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0002479 MONDO:0003125 False Sertoli-Leydig cell tumor testicular sex cord-stromal neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0002480 MONDO:0021148 False endometrioid tumor female reproductive system neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002481 MONDO:0008170 False ovarian neuroendocrine neoplasm ovarian cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002481 MONDO:0021069 False ovarian neuroendocrine neoplasm malignant endocrine neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0002482 MONDO:0002051 False nipple neoplasm integumentary system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002486 MONDO:0004658 False lobular neoplasia breast carcinoma in situ UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002491 MONDO:0002494 False substance abuse substance-related disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0002492 MONDO:0020683 False acute kidney failure acute disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002501 MONDO:0005499 False brain glioblastoma brain glioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002507 MONDO:0002021 False gingival overgrowth gingival disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0002508 MONDO:0004842 False gingivitis stomatitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002511 MONDO:0001854 False stenosis of lacrimal sac lacrimal apparatus disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002517 MONDO:0004855 False tenosynovitis of foot and ankle tenosynovitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002519 MONDO:0001593 False anus disorder rectal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002509 MONDO:0006882 False non-specific granulomatous orchitis orchitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0002520 MONDO:0005154 False hepatic porphyria liver disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0002520 MONDO:0037939 False hepatic porphyria porphyria UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0002522 MONDO:0021581 False tenosynovial giant cell tumor connective tissue neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0002522 MONDO:0024876 False tenosynovial giant cell tumor tendon sheath disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0002523 MONDO:0005093 False cutaneous mucinosis skin disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002526 MONDO:0003155 False dermal unilateral segmental cavernous angioma cavernous hemangioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0002528 MONDO:0006816 False synovium neoplasm arthropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0002528 MONDO:0056799 False synovium neoplasm synovium disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002535 MONDO:0002363 False verrucous papilloma papilloma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0002540 MONDO:0006517 False childhood oligodendroglioma childhood malignant neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002542 MONDO:0003544 False spinal cord glioma spinal cord cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002542 MONDO:0100342 False spinal cord glioma malignant glioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002544 MONDO:0005499 False brain oligodendroglioma brain glioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002546 MONDO:0016752 False schwannoma benign peripheral nerve sheath tumor UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0002546 MONDO:0021637 False schwannoma low grade glioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002547 MONDO:0001406 False nerve sheath neoplasm peripheral nervous system neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0002547 MONDO:0021042 False nerve sheath neoplasm glioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002552 MONDO:0002545 False vascular myelopathy spinal cord disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002554 MONDO:0002366 False sympathetic neurilemmoma autonomic nervous system neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002558 MONDO:0002546 False melanotic neurilemmoma schwannoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0002562 MONDO:0005559 False demyelinating disease neurodegenerative disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0002562 MONDO:0021147 False demyelinating disease disorder of development or morphogenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002565 MONDO:0002545 False myelitis spinal cord disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0002565 MONDO:0005156 False myelitis encephalomyelitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0002567 MONDO:0000270 False tracheal disorder lower respiratory tract disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002567 MONDO:0004867 False tracheal disorder upper respiratory tract disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002568 MONDO:0002567 False tracheal stenosis tracheal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002569 MONDO:0004298 False gastric dilatation stomach disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002570 MONDO:0002602 False high pressure neurological syndrome central nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002571 MONDO:0000621 False primary central nervous system lymphoma immune system cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0002571 MONDO:0004949 False primary central nervous system lymphoma neoplasm of mature B-cells UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002571 MONDO:0017343 False primary central nervous system lymphoma Epstein-Barr virus-associated malignant lymphoproliferative disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0002572 MONDO:0043905 False aspiration pneumonitis pneumonitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0002577 MONDO:0002849 False extrahepatic bile duct rhabdomyosarcoma liver rhabdomyosarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0002579 MONDO:0023603 False orbit embryonal rhabdomyosarcoma hereditary disorder of connective tissue UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0002581 MONDO:0002927 False spindle cell rhabdomyosarcoma spindle cell sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0002582 MONDO:0010643 False subacute leukemia acute leukemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002586 MONDO:0000621 False thymus cancer immune system cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002586 MONDO:0021069 False thymus cancer malignant endocrine neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002590 MONDO:0006456 False combined thymoma thymoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0002592 MONDO:0006451 False invasive malignant thymoma thymic carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0002592 MONDO:0040677 False invasive malignant thymoma invasive carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0002594 MONDO:0100329 False monkeypox primary viral infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002595 MONDO:0005108 False vaccinia viral infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0002598 MONDO:0006290 False germinoma malignant germ cell tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002610 MONDO:0002243 False purpura hemorrhagic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002612 MONDO:0005384 False frontal lobe epilepsy focal epilepsy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002614 MONDO:0005381 False bone inflammation disease bone disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002615 MONDO:0019245 False xanthomatosis lysosomal lipid storage disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0002625 MONDO:0023603 False Ewing sarcoma of bone hereditary disorder of connective tissue UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0002633 MONDO:0001406 False cranial nerve neoplasm peripheral nervous system neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0002633 MONDO:0005586 False cranial nerve neoplasm head and neck neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002636 MONDO:0003620 False accessory nerve disorder peripheral nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002637 MONDO:0005833 False histiocytosis lymphatic system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002639 MONDO:0003620 False glossopharyngeal nerve disorder peripheral nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002641 MONDO:0000473 False subclavian artery aneurysm arterial disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002643 MONDO:0002467 False vestibular disorder inner ear disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002635 MONDO:0006999 False periodontal disorder tooth disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0002643 MONDO:0019056 False vestibular disorder neuromuscular disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0002643 MONDO:0024417 False vestibular disorder perceptual disorders UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0002644 MONDO:0700007 False idiopathic granulomatous myositis idiopathic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0002645 MONDO:0005156 False cerebritis encephalomyelitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002646 MONDO:0004777 False viral laryngitis acute laryngitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0002646 MONDO:0024352 False viral laryngitis viral respiratory tract infection UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0002647 MONDO:0021166 False laryngitis inflammatory disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0002652 MONDO:0002169 False anus adenocarcinoma rectum adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002655 MONDO:0002656 False cutaneous Paget disease skin carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0002655 MONDO:0021165 False cutaneous Paget disease Paget disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0002657 MONDO:0700096 False breast disorder human disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002660 MONDO:0003382 False blepharochalasis eyelid disorder UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0002669 MONDO:0002664 False ampullary signet ring cell adenocarcinoma extrahepatic bile duct signet ring cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0002670 MONDO:0002665 False ampulla of vater adenocarcinoma extrahepatic bile duct adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0002670 MONDO:0006186 False ampulla of vater adenocarcinoma duodenal adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002674 MONDO:0005240 False stricture or kinking of ureter kidney disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002675 MONDO:0016755 False neurofibrosarcoma neurofibroma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0002676 MONDO:0002677 False adult fibrosarcoma conventional fibrosarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002679 MONDO:0005394 False cerebral infarction brain infarction UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0002680 MONDO:0700108 False chronic wasting disease prion disease, non-human animal UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0002681 MONDO:0002095 False choroid plexus cancer vascular cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0002681 MONDO:0043218 False choroid plexus cancer neurovascular disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002682 MONDO:0001657 False cerebral ventricle cancer brain cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002687 MONDO:0002688 False superior mesenteric artery syndrome duodenal obstruction UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002687 MONDO:0002254 False superior mesenteric artery syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0002687 MONDO:0005561 False superior mesenteric artery syndrome aortic disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002688 MONDO:0002866 False duodenal obstruction duodenal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0002688 MONDO:0004565 False duodenal obstruction intestinal obstruction UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002691 MONDO:0021069 False liver cancer malignant endocrine neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002692 MONDO:0002907 False intracranial sinus thrombosis intracranial thrombosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002693 MONDO:0002692 False lateral sinus thrombosis intracranial sinus thrombosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002694 MONDO:0002692 False cavernous sinus thrombosis intracranial sinus thrombosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002695 MONDO:0002692 False sagittal sinus thrombosis intracranial sinus thrombosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0002697 MONDO:0018172 False ovarian gonadoblastoma malignant sex cord stromal tumor of ovary UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0002698 MONDO:0003125 False testicular gonadoblastoma testicular sex cord-stromal neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0002698 MONDO:0005447 False testicular gonadoblastoma testicular cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002706 MONDO:0005133 False cervix endometriosis endometriosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0002707 MONDO:0004953 False breast mucinous carcinoma invasive ductal breast carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0002708 MONDO:0006918 False retinitis posterior uveitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0002710 MONDO:0004075 False infiltrating angiolipoma infiltrating lipoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0002713 MONDO:0000812 False epidural spinal canal neoplasm vertebral column disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0002717 MONDO:0021506 False spinal cord intramedullary teratoma benign neoplasm of spinal cord UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002718 MONDO:0019500 False central nervous system teratoma extragonadal teratoma UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0002722 MONDO:0021211 False olfactory nerve neoplasm brain neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002727 MONDO:0003620 False olfactory nerve disorder peripheral nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0002727 MONDO:0005560 False olfactory nerve disorder brain disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002728 MONDO:0018078 False rhabdoid tumor soft tissue sarcoma UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0002729 MONDO:0002930 False rhabdoid tumor of the kidney kidney sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002732 MONDO:0000382 False lung benign neoplasm respiratory system benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0002734 MONDO:0002748 False anal mucinous adenocarcinoma rectum mucinous adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0002736 MONDO:0002739 False ampulla of vater mucinous adenocarcinoma extrahepatic bile duct mucinous adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002737 MONDO:0002738 False acute sanguinous otitis media acute transudative otitis media UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002738 MONDO:0001212 False acute transudative otitis media non-suppurative otitis media UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0002738 MONDO:0020683 False acute transudative otitis media acute disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0002740 MONDO:0002742 False uterine ligament mucinous adenocarcinoma cervical mucinous adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0002741 MONDO:0005153 False uterine ligament adenocarcinoma cervical adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002756 MONDO:0000621 False solitary plasmacytoma of chest wall immune system cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0002756 MONDO:0003985 False solitary plasmacytoma of chest wall chest wall lymphoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002757 MONDO:0002737 False acute allergic sanguinous otitis media acute sanguinous otitis media UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0002761 MONDO:0016285 False cervical verrucous carcinoma papillary carcinoma of the cervix uteri UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002768 MONDO:0002145 False true hermaphroditism disorder of sexual differentiation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002769 MONDO:0002770 False leukorrhea vaginal discharge UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002770 MONDO:0001433 False vaginal discharge vaginal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002771 MONDO:0015925 False pulmonary fibrosis interstitial lung disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0002772 MONDO:0000642 False intraventricular meningioma brain meningioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0002772 MONDO:0021322 False intraventricular meningioma malignant tumor of meninges UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002775 MONDO:0005558 False anovulation ovarian disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002779 MONDO:0000628 False central nervous system chondroma central nervous system organ benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002776 MONDO:0021205 False external ear disorder disorder of ear UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0002783 MONDO:0003159 False Shwartzman phenomenon vascular hemostatic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002783 MONDO:0018882 False Shwartzman phenomenon vasculitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002789 MONDO:0002604 False hemangiopericytic tumor pericytic neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0002790 MONDO:0021348 False seminal vesicle tumor neoplasm of testis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002799 MONDO:0007959 False nodular medulloblastoma medulloblastoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002801 MONDO:0002802 False colonic pseudo-obstruction functional colonic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0002801 MONDO:0002803 False colonic pseudo-obstruction intestinal pseudo-obstruction UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002802 MONDO:0003409 False functional colonic disease colonic disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0002803 MONDO:0004567 False intestinal pseudo-obstruction ileus UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002806 MONDO:0001672 False bronchogenic carcinoma bronchus cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002807 MONDO:0001358 False bronchial neoplasm bronchial disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0002807 MONDO:0020641 False bronchial neoplasm respiratory tract neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0002811 MONDO:0001672 False main bronchus cancer bronchus cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0002812 MONDO:0002008 False infectious otitis interna labyrinthitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -12699,78 +19753,39 @@ MONDO:0002812 MONDO:0021669 False infectious otitis interna post-infectious diso MONDO:0002813 MONDO:0004992 False lipomatous cancer cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0002813 MONDO:0021354 False lipomatous cancer tumor of adipose tissue UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0002814 MONDO:0001502 False adrenal carcinoma retroperitoneum carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002814 MONDO:0002817 False adrenal carcinoma adrenal gland cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0002815 MONDO:0020683 False acute myocarditis acute disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002816 MONDO:0005495 False adrenal cortex disorder adrenal gland disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002817 MONDO:0021069 False adrenal gland cancer malignant endocrine neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002821 MONDO:0005034 False trabecular follicular adenocarcinoma thyroid gland follicular carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002824 MONDO:0004994 False extrinsic cardiomyopathy cardiomyopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0002829 MONDO:0000653 False bartholin gland carcinoma integumentary system cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002839 MONDO:0004298 False leather-bottle stomach stomach disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002842 MONDO:0005113 False bacterial gastritis bacterial infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002843 MONDO:0002041 False fungal gastritis fungal infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002839 MONDO:0045054 False leather-bottle stomach cancer-related condition UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0002840 MONDO:0016129 False eosinophilic gastritis eosinophilic gastroenteritis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002842 MONDO:0043424 False bacterial gastritis digestive system infectious disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0002843 MONDO:0043424 False fungal gastritis digestive system infectious disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0002848 MONDO:0020120 False skeletal muscle neoplasm skeletal muscle disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002855 MONDO:0005872 False ectomesenchymoma nervous system cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0002862 MONDO:0002397 False bile duct sarcoma liver sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002862 MONDO:0003059 False bile duct sarcoma bile duct cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0002864 MONDO:0002853 False anus rhabdomyosarcoma rectum rhabdomyosarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0002865 MONDO:0002168 False anus sarcoma rectum sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0002866 MONDO:0024635 False duodenal disorder small intestine disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0002870 MONDO:0020674 False tricuspid valve insufficiency vascular insufficiency disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0002871 MONDO:0002874 False testicular trophoblastic tumor testicular pure germ cell tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0002875 MONDO:0024610 False parasitic ectoparasitic infectious disease parasitic skin disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002876 MONDO:0016277 False cervical adenosarcoma malignant mixed epithelial and mesenchymal tumor of cervix uteri UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002877 MONDO:0016277 False cervical carcinosarcoma malignant mixed epithelial and mesenchymal tumor of cervix uteri UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002879 MONDO:0006003 False uterine body mixed cancer uterine corpus cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002884 MONDO:0002051 False nail disorder integumentary system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002885 MONDO:0002922 False erythrasma pyoderma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002886 MONDO:0002887 False common bile duct disorder bile duct disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002887 MONDO:0004868 False bile duct disorder biliary tract disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0002889 MONDO:0002132 False orbital cancer skull cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0002892 MONDO:0002132 False skull base chordoma skull cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002898 MONDO:0000653 False skin cancer integumentary system cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0002900 MONDO:0003142 False cerebral neuroblastoma intracranial primitive neuroectodermal tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002901 MONDO:0005570 False blood group incompatibility hematologic disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002903 MONDO:0004730 False articulation disorder speech disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002904 MONDO:0004730 False echolalia speech disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002905 MONDO:0004730 False mutism speech disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002907 MONDO:0000831 False intracranial thrombosis thrombotic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002907 MONDO:0011057 False intracranial thrombosis cerebrovascular disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002909 MONDO:0002908 False hyperglycemia glucose metabolism disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002910 MONDO:0001397 False peroneal neuropathy mononeuropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002911 MONDO:0002912 False brain stem glioma brainstem cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002903 MONDO:0004750 False articulation disorder language disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0002911 MONDO:0005499 False brain stem glioma brain glioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002913 MONDO:0002427 False cerebellar neoplasm cerebellar disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002914 MONDO:0002912 False childhood brain stem neoplasm brainstem cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0002914 MONDO:0006517 False childhood brain stem neoplasm childhood malignant neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002917 MONDO:0002051 False disorder of pilosebaceous unit integumentary system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0002919 MONDO:0005172 False posterior cranial fossa meningioma skeletal system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002921 MONDO:0019952 False congenital structural myopathy congenital myopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002922 MONDO:0005093 False pyoderma skin disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0002927 MONDO:0020663 False spindle cell sarcoma malignant spindle cell neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002929 MONDO:0005275 False pulmonary immaturity lung disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002931 MONDO:0006170 False conjunctivochalasis conjunctival disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002933 MONDO:0000833 False osteosclerosis bone remodeling disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0002934 MONDO:0000629 False intravascular angioleiomyoma cardiovascular organ benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0002934 MONDO:0024296 False intravascular angioleiomyoma vascular neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0002935 MONDO:0018352 False penis basal cell carcinoma squamous cell carcinoma of penis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0002936 MONDO:0001651 False scrotum basal cell carcinoma scrotum squamous cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0002940 MONDO:0001470 False anal margin basal cell carcinoma anal margin squamous cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002942 MONDO:0005341 False sebaceous basal cell carcinoma skin basal cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0002943 MONDO:0003501 False external ear basal cell carcinoma external ear squamous cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002946 MONDO:0002263 False gynatresia female reproductive system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0002955 MONDO:0024609 False vulva basal cell carcinoma vulvar squamous cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0002957 MONDO:0021663 False sarcomatoid basal cell carcinoma sarcomatoid squamous cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002959 MONDO:0003620 False radiculopathy peripheral nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0002960 MONDO:0006915 False polyradiculopathy polyradiculoneuropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0002965 MONDO:0024652 False parovarian cyst embryonic cyst of fallopian tube UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0002966 MONDO:0004699 False splenic manifestation of prolymphocytic leukemia gastrointestinal lymphoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002968 MONDO:0005833 False lymphocele lymphatic system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002969 MONDO:0002658 False ciliary body cancer iris cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002970 MONDO:0002289 False ciliary body disorder iris disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002972 MONDO:0005843 False posterior mediastinum cancer mediastinal cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002976 MONDO:0004298 False stomach diverticulosis stomach disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002984 MONDO:0002637 False reticulohistiocytic granuloma histiocytosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0002996 MONDO:0004634 False cavernous sinus meningioma vein disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0002996 MONDO:0021080 False cavernous sinus meningioma blood vessel neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0002996 MONDO:0024499 False cavernous sinus meningioma vascular bone neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -12781,44 +19796,31 @@ MONDO:0003002 MONDO:0006290 False dysgerminoma malignant germ cell tumor UNSUPPO MONDO:0003002 MONDO:0020580 False dysgerminoma germinomatous germ cell tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0003003 MONDO:0016280 False cervical alveolar soft part sarcoma sarcoma of cervix uteri UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0003005 MONDO:0003004 False macular retinal edema macular degeneration UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003005 MONDO:0004037 False macular retinal edema retinal edema UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003008 MONDO:0100191 False hereditary renal cell carcinoma inherited kidney disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003009 MONDO:0006640 False hyperaldosteronism adrenal gland hyperfunction UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003010 MONDO:0005005 False multilocular clear cell renal cell carcinoma clear cell renal carcinoma UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003011 MONDO:0005086 False mucinous tubular and spindle renal cell carcinoma renal cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003011 MONDO:0021568 False mucinous tubular and spindle renal cell carcinoma renal tubule disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0003014 MONDO:0020579 False rhinitis mucositis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003017 MONDO:0002087 False malignant peritoneal solitary fibrous tumor peritoneum cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003017 MONDO:0037737 False malignant peritoneal solitary fibrous tumor peritoneal solitary fibrous tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0003019 MONDO:0000226 False potassium deficiency disease mineral metabolism disease UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0003019 MONDO:0005137 False potassium deficiency disease nutritional disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003021 MONDO:0043218 False central nervous system angiosarcoma neurovascular disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0003023 MONDO:0004539 False aorta angiosarcoma aortic malignant tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003030 MONDO:0003031 False endometrioid stromal sarcoma of the cervix endometrioid stromal and related neoplasms of the cervix UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003030 MONDO:0006745 False endometrioid stromal sarcoma of the cervix endometrioid stromal sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003030 MONDO:0016280 False endometrioid stromal sarcoma of the cervix sarcoma of cervix uteri UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003032 MONDO:0004634 False superior vena cava angiosarcoma vein disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003032 MONDO:0040676 False superior vena cava angiosarcoma great vessel cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0003036 MONDO:0004957 False mucoepidermoid carcinoma mucinous adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003036 MONDO:0006720 False mucoepidermoid carcinoma cystic, mucinous, and serous neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0003037 MONDO:0003847 False hypotrichosis hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003038 MONDO:0000599 False dysgraphia writing disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003039 MONDO:0000598 False nominal aphasia aphasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003040 MONDO:0001152 False retrograde amnesia amnestic disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003045 MONDO:0003046 False anal gland neoplasm anus neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003046 MONDO:0002165 False anus neoplasm rectal neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003053 MONDO:0002681 False choroid plexus meningioma choroid plexus cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003051 MONDO:0024279 False non specific chronic endometritis chronic endometritis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0003052 MONDO:0024279 False granulomatous endometritis chronic endometritis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0003053 MONDO:0002772 False choroid plexus meningioma intraventricular meningioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003059 MONDO:0003060 False bile duct cancer biliary tract cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003059 MONDO:0021662 False bile duct cancer bile duct neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0003060 MONDO:0002691 False biliary tract cancer liver cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003060 MONDO:0005304 False biliary tract cancer biliary tract neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003061 MONDO:0000636 False benign muscle neoplasm musculoskeletal system benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003066 MONDO:0001597 False submandibular adenitis submandibular gland disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003066 MONDO:0003067 False submandibular adenitis cervical lymphadenitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003066 MONDO:0006969 False submandibular adenitis sialadenitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003082 MONDO:0003085 False filamentary keratitis keratitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003083 MONDO:0024239 False venous hemangioma congenital anomaly of cardiovascular system UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003084 MONDO:0007008 False uremic neuropathy uremia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003084 MONDO:0005244 False uremic neuropathy peripheral neuropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003085 MONDO:0021166 False keratitis inflammatory disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0003086 MONDO:0003209 False thymic mucoepidermoid carcinoma thymus gland adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003087 MONDO:0004988 False mucoepidermoid breast carcinoma breast adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS @@ -12827,97 +19829,61 @@ MONDO:0003092 MONDO:0002475 False lacrimal gland mucoepidermoid carcinoma lacrim MONDO:0003093 MONDO:0005028 False mucoepidermoid esophageal carcinoma esophageal adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003098 MONDO:0001406 False mediastinal neural neoplasm peripheral nervous system neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003100 MONDO:0024432 False nerve plexus neoplasm nerve plexus disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003103 MONDO:0001406 False nerve root neoplasm peripheral nervous system neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003104 MONDO:0001322 False epicardium cancer pericardium cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003110 MONDO:0024666 False skin hemangioma benign epithelial skin neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0003118 MONDO:0021348 False testicular Brenner tumor neoplasm of testis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0003121 MONDO:0005172 False middle cranial fossa meningioma skeletal system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003128 MONDO:0005933 False classic pulmonary blastoma pulmonary blastoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003129 MONDO:0005933 False epithelial predominant pulmonary blastoma pulmonary blastoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003130 MONDO:0002367 False mesoblastic nephroma kidney cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0003136 MONDO:0002462 False anti-basement membrane glomerulonephritis glomerulonephritis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003138 MONDO:0020683 False subacute glomerulonephritis acute disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003143 MONDO:0003110 False angiokeratoma skin hemangioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003144 MONDO:0016713 False medulloepithelioma central nervous system Ewing sarcoma/peripheral primitive neuroectodermal tumor UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003147 MONDO:0008015 False space motion sickness motion sickness UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003154 MONDO:0003241 False hemangioma of peripheral nerve central nervous system hemangioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003154 MONDO:0056804 False hemangioma of peripheral nerve benign neoplasm of peripheral nervous system UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003155 MONDO:0002334 False cavernous hemangioma hematopoietic and lymphoid system neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003155 MONDO:0003159 False cavernous hemangioma vascular hemostatic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003157 MONDO:0002254 False disappearing bone disease syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003159 MONDO:0002243 False vascular hemostatic disease hemorrhagic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003159 MONDO:0005385 False vascular hemostatic disease vascular disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003168 MONDO:0000638 False cerebellar pilocytic astrocytoma benign glioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003169 MONDO:0002786 False diencephalic astrocytomas diencephalic cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003169 MONDO:0005499 False diencephalic astrocytomas brain glioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003171 MONDO:0003169 False pineal gland astrocytoma diencephalic astrocytomas UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003171 MONDO:0003249 False pineal gland astrocytoma pineal gland cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003177 MONDO:0005082 False prostate adenoid cystic carcinoma prostate adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003181 MONDO:0005061 False lung adenoid cystic carcinoma lung adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003182 MONDO:0002545 False anterior horn disorder spinal cord disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003185 MONDO:0004988 False adenoid cystic breast carcinoma breast adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003186 MONDO:0005028 False esophageal adenoid cystic carcinoma esophageal adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003187 MONDO:0003853 False Bartholin gland adenoid cystic carcinoma Bartholin gland adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003191 MONDO:0002752 False rete ovarii adenocarcinoma ovarian adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003192 MONDO:0021068 False rete ovarii neoplasm ovarian neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003194 MONDO:0002732 False hemangioma of lung lung benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003194 MONDO:0006500 False hemangioma of lung hemangioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003195 MONDO:0002113 False peritoneal serous adenocarcinoma peritoneal carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003195 MONDO:0005278 False peritoneal serous adenocarcinoma serous adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003196 MONDO:0006029 False appendix carcinoma cecum carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003196 MONDO:0018511 False appendix carcinoma epithelial tumor of the appendix UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0003197 MONDO:0003252 False granular cell carcinoma granular cell cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003199 MONDO:0044937 False anal carcinoma rectal carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003202 MONDO:0017582 False pituitary gland basophilic carcinoma pituitary adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003205 MONDO:0005086 False renal pelvis adenocarcinoma renal cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003208 MONDO:0004953 False breast secretory carcinoma invasive ductal breast carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003210 MONDO:0001487 False intrahepatic cholangiocarcinoma intrahepatic bile duct cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003222 MONDO:0002714 False central nervous system melanocytic neoplasm central nervous system cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003223 MONDO:0005094 False meninges hemangiopericytoma hemangiopericytoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003223 MONDO:0021322 False meninges hemangiopericytoma malignant tumor of meninges UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0003225 MONDO:0005046 False bone marrow disorder immune system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003225 MONDO:0005172 False bone marrow disorder skeletal system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003225 MONDO:0005570 False bone marrow disorder hematologic disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003227 MONDO:0005638 False prosopagnosia agnosia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003231 MONDO:0017373 False acute nonparalytic poliomyelitis poliomyelitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003232 MONDO:0004982 False alcoholic pancreatitis pancreatitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003232 MONDO:0021699 False alcoholic pancreatitis alcohol-induced disorders UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0003233 MONDO:0003847 False essential tremor hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003233 MONDO:0005395 False essential tremor movement disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003234 MONDO:0002433 False optic nerve astrocytoma malignant cranial nerve neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003240 MONDO:0005151 False thyroid gland disorder endocrine system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003241 MONDO:0000628 False central nervous system hemangioma central nervous system organ benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003241 MONDO:0043218 False central nervous system hemangioma neurovascular disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0003249 MONDO:0003766 False pineal gland cancer thalamic cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003249 MONDO:0021069 False pineal gland cancer malignant endocrine neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003250 MONDO:0000638 False benign granular cell tumor benign glioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0003250 MONDO:0056804 False benign granular cell tumor benign neoplasm of peripheral nervous system UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003252 MONDO:0100342 False granular cell cancer malignant glioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003254 MONDO:0003250 False cardiac granular cell neoplasm benign granular cell tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003254 MONDO:0021508 False cardiac granular cell neoplasm benign neoplasm of epicardium UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0003257 MONDO:0100070 False posterior pituitary gland neoplasm neuroendocrine disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003261 MONDO:0000642 False papillary meningioma of the cerebellum brain meningioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003265 MONDO:0005084 False adjustment disorder mental disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003271 MONDO:0005420 False iodine hypothyroidism hypothyroidism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003272 MONDO:0021043 False mixed epithelial stromal tumor mixed neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003273 MONDO:0002129 False sternum cancer bone cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003275 MONDO:0004532 False middle ear cancer auditory system cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003277 MONDO:0000649 False malignant ear neoplasm sensory system cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003278 MONDO:0003277 False inner ear cancer malignant ear neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003278 MONDO:0004532 False inner ear cancer auditory system cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003276 MONDO:0021205 False middle ear disorder disorder of ear UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0003278 MONDO:0024320 False inner ear cancer inner ear neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0003280 MONDO:0024985 False swayback sheep disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0003280 MONDO:0700103 False swayback nutritional deficiency disease, non-human animal UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003282 MONDO:0005558 False ovarian cyst ovarian disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003286 MONDO:0004723 False extrahepatic bile duct leiomyoma liver leiomyoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003287 MONDO:0000628 False central nervous system leiomyoma central nervous system organ benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003290 MONDO:0005384 False simple partial epilepsy focal epilepsy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003292 MONDO:0004125 False anus leiomyoma rectum leiomyoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003300 MONDO:0001092 False appendix leiomyoma colon leiomyoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003301 MONDO:0021581 False dartoic leiomyoma connective tissue neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003303 MONDO:0005411 False neurofibroma of gallbladder gallbladder cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003303 MONDO:0021089 False neurofibroma of gallbladder peripheral nervous system cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0003303 MONDO:0100342 False neurofibroma of gallbladder malignant glioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003308 MONDO:0005065 False pleural mesothelioma mesothelioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0003311 MONDO:0021251 False endometrial stromal tumor endometrium neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003313 MONDO:0002140 False endometrioid stromal sarcoma of the vagina vagina sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003313 MONDO:0003314 False endometrioid stromal sarcoma of the vagina endometrioid stromal and related neoplasms of the vagina UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003313 MONDO:0006745 False endometrioid stromal sarcoma of the vagina endometrioid stromal sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003315 MONDO:0002447 False endometrium carcinoma in situ endometrial carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS @@ -12926,37 +19892,30 @@ MONDO:0003319 MONDO:0024582 False scrotum neoplasm male reproductive system neop MONDO:0003319 MONDO:0045003 False scrotum neoplasm scrotal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0003321 MONDO:0100191 False hereditary Wilms tumor inherited kidney disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0003328 MONDO:0002373 False fallopian tube adenomatoid tumor benign mesothelioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003329 MONDO:0001926 False ureteral obstruction ureteral disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003329 MONDO:0003330 False ureteral obstruction urinary tract obstruction UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003332 MONDO:0006980 False malignant struma ovarii struma ovarii UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003332 MONDO:0018369 False malignant struma ovarii immature ovarian teratoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003333 MONDO:0000646 False benign struma ovarii ovarian benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003333 MONDO:0006980 False benign struma ovarii struma ovarii UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003334 MONDO:0002562 False demyelinating polyneuropathy demyelinating disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003336 MONDO:0006009 False acute necrotizing encephalitis viral encephalitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003337 MONDO:0006009 False acute hemorrhagic encephalitis viral encephalitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003341 MONDO:0017588 False subungual glomus tumor nail tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0003343 MONDO:0002311 False retinal hemangioblastoma retinal vascular disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003343 MONDO:0021541 False retinal hemangioblastoma hemangioma of retina UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003345 MONDO:0003210 False hilar cholangiocarcinoma intrahepatic cholangiocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003346 MONDO:0002602 False central nervous system vasculitis central nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003346 MONDO:0043218 False central nervous system vasculitis neurovascular disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0003350 MONDO:0003252 False granular cell leiomyosarcoma granular cell cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003350 MONDO:0003349 False granular cell leiomyosarcoma central nervous system leiomyosarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003358 MONDO:0003379 False anus leiomyosarcoma rectum leiomyosarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003360 MONDO:0018506 False small intestine leiomyosarcoma mesenchymal tumor of small intestine UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0003362 MONDO:0005058 False cutaneous leiomyosarcoma leiomyosarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003362 MONDO:0006414 False cutaneous leiomyosarcoma skin sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003366 MONDO:0006816 False hydrarthrosis arthropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003377 MONDO:0003090 False extrahepatic bile duct leiomyosarcoma extrahepatic bile duct carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003377 MONDO:0003378 False extrahepatic bile duct leiomyosarcoma liver leiomyosarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003381 MONDO:0005151 False pituitary gland disorder endocrine system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003381 MONDO:0005560 False pituitary gland disorder brain disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003382 MONDO:0000462 False eyelid disorder eye adnexa disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0003382 MONDO:0005328 False eyelid disorder eye disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003384 MONDO:0006135 False uterine ligament clear cell adenocarcinoma cervical clear cell adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003388 MONDO:0004081 False ampulla of vater clear cell adenocarcinoma extrahepatic bile duct clear cell adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003393 MONDO:0005046 False thymus gland disorder immune system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003393 MONDO:0005151 False thymus gland disorder endocrine system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003393 MONDO:0005570 False thymus gland disorder hematologic disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003396 MONDO:0002507 False epulis gingival overgrowth UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003397 MONDO:0002507 False gingival hypertrophy gingival overgrowth UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003398 MONDO:0001152 False anterograde amnesia amnestic disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003396 MONDO:0005079 False epulis polyp UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0003399 MONDO:0003401 False pineal region yolk sac tumor central nervous system endodermal sinus tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003406 MONDO:0100081 False sleep-wake disorder sleep disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0003409 MONDO:0024634 False colonic disorder large intestine disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -12964,52 +19923,33 @@ MONDO:0003410 MONDO:0005086 False Wolffian duct adenocarcinoma renal cell carcin MONDO:0003410 MONDO:0024888 False Wolffian duct adenocarcinoma mesonephric neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0003411 MONDO:0021100 False breast hemangiopericytoma breast neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0003412 MONDO:0024645 False retroperitoneal hemangiopericytoma retroperitoneal neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003417 MONDO:0003425 False internuclear ophthalmoplegia ophthalmoplegia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003417 MONDO:0003432 False internuclear ophthalmoplegia strabismus UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003419 MONDO:0002193 False Bartholin gland adenoma Bartholin gland benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003420 MONDO:0002369 False bile duct cystadenoma cystadenoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003420 MONDO:0006108 False bile duct cystadenoma bile duct adenoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003425 MONDO:0001584 False ophthalmoplegia ocular motility disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003425 MONDO:0006496 False ophthalmoplegia palsy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003427 MONDO:0002807 False bronchus adenoma bronchial neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003429 MONDO:0003604 False functioning pituitary gland adenoma functioning pituitary gland neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003430 MONDO:0017611 False prolactin producing pituitary tumor pituitary tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003432 MONDO:0001584 False strabismus ocular motility disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003439 MONDO:0000502 False urinary bladder villous adenoma villous adenoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003446 MONDO:0002805 False papillary hidradenoma hidradenoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003450 MONDO:0002090 False eccrine papillary adenoma eccrine sweat gland neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003450 MONDO:0002533 False eccrine papillary adenoma papillary adenoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003450 MONDO:0021110 False eccrine papillary adenoma sweat gland adenoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003452 MONDO:0002467 False cochlear disorder inner ear disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003452 MONDO:0024654 False cochlear disorder skull disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003455 MONDO:0000385 False bile duct papillary neoplasm benign digestive system neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003455 MONDO:0000627 False bile duct papillary neoplasm benign endocrine neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003455 MONDO:0002060 False bile duct papillary neoplasm intraductal papilloma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003465 MONDO:0010434 False fibrous synovial sarcoma synovial sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003466 MONDO:0002927 False spindle cell synovial sarcoma spindle cell sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003471 MONDO:0003472 False Pediculus humanus capitis infestation lice infestation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003473 MONDO:0021546 False spinal cord ependymoma ependymal tumor of spinal cord UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0003477 MONDO:0004245 False brain stem ependymoma ependymal tumor of brain UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003479 MONDO:0043905 False toxic pneumonitis pneumonitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003480 MONDO:0002073 False pineal region dysgerminoma malignant pineal area germ cell neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003480 MONDO:0003002 False pineal region dysgerminoma dysgerminoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003481 MONDO:0003002 False dysgerminoma of ovary dysgerminoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003482 MONDO:0003472 False Pediculus humanus corporis infestation lice infestation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003490 MONDO:0006203 False ampulla of vater squamous cell carcinoma extrahepatic bile duct squamous cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0003490 MONDO:0018509 False ampulla of vater squamous cell carcinoma squamous cell carcinoma of the small intestine UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003492 MONDO:0002463 False lacrimal gland squamous cell carcinoma lacrimal gland carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003492 MONDO:0010150 False lacrimal gland squamous cell carcinoma head and neck squamous cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003494 MONDO:0003495 False ovarian squamous cell carcinoma ovarian squamous cell neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0003499 MONDO:0005056 False sarcomatoid squamous cell skin carcinoma keratinizing squamous cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003500 MONDO:0005496 False squamous cell bile duct carcinoma bile duct carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003500 MONDO:0018534 False squamous cell bile duct carcinoma squamous cell carcinoma of liver and intrahepatic biliary tract UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0003504 MONDO:0002120 False anal canal neuroendocrine neoplasm neuroendocrine carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003504 MONDO:0003646 False anal canal neuroendocrine neoplasm rectum neuroendocrine neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003504 MONDO:0007108 False anal canal neuroendocrine neoplasm anal canal carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003505 MONDO:0000952 False femoral cancer cancer of long bone of lower limb UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003505 MONDO:0021579 False femoral cancer neoplasm of femur UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003506 MONDO:0000473 False pulmonary artery choriocarcinoma arterial disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003507 MONDO:0018171 False choriocarcinoma of ovary malignant germ cell tumor of ovary UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003518 MONDO:0020539 False mediastinum teratoma extragonadal non-dysgerminomatous germ cell tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0003519 MONDO:0002191 False malignant syringoma syringoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003528 MONDO:0020120 False Volkmann contracture skeletal muscle disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -13017,14 +19957,8 @@ MONDO:0003529 MONDO:0020683 False acute pyelonephritis acute disease UNSUPPORTED MONDO:0003530 MONDO:0044789 False aggressive digital papillary adenocarcinoma digital papillary eccrine carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0003532 MONDO:0005590 False breast papillary carcinoma breast ductal adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003535 MONDO:0002512 False fallopian tube papillary adenocarcinoma papillary adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003535 MONDO:0002746 False fallopian tube papillary adenocarcinoma fallopian tube adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003539 MONDO:0003540 False T-cell adult acute lymphocytic leukemia acute T cell leukemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003540 MONDO:0004967 False acute T cell leukemia acute lymphoblastic leukemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003540 MONDO:0005525 False acute T cell leukemia T-cell leukemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003542 MONDO:0003394 False dental pulp calcification dental pulp disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003543 MONDO:0003620 False trigeminal nerve disorder peripheral nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003545 MONDO:0002713 False intradural extramedullary spinal canal neoplasm epidural spinal canal neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003546 MONDO:0003620 False third cranial nerve disorder peripheral nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003548 MONDO:0006056 False adenosquamous breast carcinoma squamous cell breast carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003549 MONDO:0003500 False adenosquamous bile duct carcinoma squamous cell bile duct carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003549 MONDO:0056815 False adenosquamous bile duct carcinoma liver adenosquamous carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -13038,16 +19972,10 @@ MONDO:0003556 MONDO:0006198 False endometrial adenosquamous carcinoma endometria MONDO:0003558 MONDO:0000993 False adenosquamous prostate carcinoma prostate squamous cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003562 MONDO:0021348 False rete testis neoplasm neoplasm of testis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0003565 MONDO:0000502 False urethral villous adenoma villous adenoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003567 MONDO:0002467 False bilateral hypoactive labyrinth inner ear disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003568 MONDO:0005560 False disorder of optic chiasm brain disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003574 MONDO:0004532 False external ear cancer auditory system cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003578 MONDO:0020539 False extragonadal nonseminomatous germ cell tumor extragonadal non-dysgerminomatous germ cell tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003579 MONDO:0001834 False retinal nerve fiber layer disorder visual pathway disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003579 MONDO:0005283 False retinal nerve fiber layer disorder retinal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003582 MONDO:0000426 False hereditary breast ovarian cancer syndrome autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003584 MONDO:0001834 False visual cortex disorder visual pathway disorder UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003582 MONDO:0015356 False hereditary breast ovarian cancer syndrome hereditary neoplastic syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0003584 MONDO:0044996 False visual cortex disorder cerebral cortex disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003590 MONDO:0005060 False fibroblastic liposarcoma liposarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003595 MONDO:0005103 False sclerosing liposarcoma well-differentiated liposarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0003596 MONDO:0002927 False spindle cell liposarcoma spindle cell sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003596 MONDO:0005103 False spindle cell liposarcoma well-differentiated liposarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -13057,134 +19985,87 @@ MONDO:0003603 MONDO:0021119 False non-functioning pituitary gland neoplasm non-f MONDO:0003604 MONDO:0017611 False functioning pituitary gland neoplasm pituitary tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0003604 MONDO:0021120 False functioning pituitary gland neoplasm functioning endocrine neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0003607 MONDO:0002122 False neuritis of upper limb neuritis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003608 MONDO:0002135 False optic atrophy optic nerve disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003610 MONDO:0004005 False rete ovarii cystadenoma rete ovarii adenoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003610 MONDO:0005183 False rete ovarii cystadenoma ovarian cystadenoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003612 MONDO:0000637 False uterine ligament cancer musculoskeletal system cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003612 MONDO:0002974 False uterine ligament cancer cervical cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003616 MONDO:0003617 False salpingitis isthmica nodosa chronic salpingitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003618 MONDO:0003619 False pyosalpinx salpingitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003615 MONDO:0005244 False nerve compression syndrome peripheral neuropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003619 MONDO:0000922 False salpingitis pelvic inflammatory disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003624 MONDO:0004953 False acinic cell breast carcinoma invasive ductal breast carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003626 MONDO:0002741 False uterine ligament serous adenocarcinoma uterine ligament adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003626 MONDO:0003631 False uterine ligament serous adenocarcinoma cervical serous adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003627 MONDO:0000603 False rheumatic pulmonary valve disease autoimmune disorder of cardiovascular system UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003627 MONDO:0003628 False rheumatic pulmonary valve disease pulmonary valve disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003627 MONDO:0005554 False rheumatic pulmonary valve disease rheumatic disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003629 MONDO:0005213 False uterine corpus serous adenocarcinoma uterine carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0003629 MONDO:0005278 False uterine corpus serous adenocarcinoma serous adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003629 MONDO:0006003 False uterine corpus serous adenocarcinoma uterine corpus cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003632 MONDO:0021166 False endocervicitis inflammatory disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003633 MONDO:0004992 False malignant mesenchymoma cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003634 MONDO:0005240 False proteinuria kidney disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003638 MONDO:0008903 False lung meningioma lung cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003638 MONDO:0021322 False lung meningioma malignant tumor of meninges UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0003640 MONDO:0005236 False verruciform xanthoma of skin xanthoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0003644 MONDO:0024479 False cavernous hemangioma of colon epithelial tumor of colon UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0003645 MONDO:0005586 False cavernous hemangioma of face head and neck neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0003646 MONDO:0024476 False rectum neuroendocrine neoplasm epithelial neoplasm of rectum UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003647 MONDO:0003648 False atrophic flaccid tympanic membrane tympanic membrane disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003648 MONDO:0003276 False tympanic membrane disorder middle ear disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003652 MONDO:0020683 False acute urate nephropathy acute disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0003653 MONDO:0016231 False stork bite capillary malformation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003656 MONDO:0003634 False hemoglobinuria proteinuria UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003663 MONDO:0003665 False uterine ligament endometrioid adenocarcinoma cervical endometrioid adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003670 MONDO:0005068 False posteroinferior myocardial infarction myocardial infarction UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003671 MONDO:0003939 False septal myocardial infarction muscle tissue disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003671 MONDO:0005068 False septal myocardial infarction myocardial infarction UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003672 MONDO:0005068 False posterior myocardial infarction myocardial infarction UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003673 MONDO:0005068 False apical myocardial infarction myocardial infarction UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003674 MONDO:0005068 False subendocardial myocardial infarction myocardial infarction UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003675 MONDO:0005068 False posterolateral myocardial infarction myocardial infarction UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003676 MONDO:0005068 False inferolateral myocardial infarct myocardial infarction UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003677 MONDO:0005068 False lateral myocardial infarction myocardial infarction UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003679 MONDO:0005068 False anteroseptal myocardial infarction myocardial infarction UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003680 MONDO:0000515 False periosteal chondrosarcoma bone chondrosarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003681 MONDO:0008977 False myxoid chondrosarcoma chondrosarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003684 MONDO:0000515 False clear cell chondrosarcoma bone chondrosarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003686 MONDO:0024467 False apocrine sweat gland neoplasm apocrine sweat gland disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0003688 MONDO:0005065 False well differentiated papillary mesothelioma mesothelioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0003689 MONDO:0003847 False familial hemolytic anemia hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003691 MONDO:0006517 False childhood malignant mesenchymoma childhood malignant neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003697 MONDO:0003698 False non-invasive verrucous carcinoma of the penis penis verrucous carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003700 MONDO:0006683 False brachial plexus neoplasm brachial plexus neuropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003708 MONDO:0002665 False extrahepatic bile duct small cell adenocarcinoma extrahepatic bile duct adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003708 MONDO:0015072 False extrahepatic bile duct small cell adenocarcinoma liver neuroendocrine carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003718 MONDO:0011057 False occlusion precerebral artery cerebrovascular disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003713 MONDO:0003143 False angiokeratoma circumscriptum angiokeratoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003722 MONDO:0024320 False internal auditory canal meningioma inner ear neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003736 MONDO:0000600 False cancerophobia nosophobia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003726 MONDO:0003725 False apocrine adenosis of breast breast adenosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003737 MONDO:0005447 False malignant testicular Leydig cell tumor testicular cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003738 MONDO:0001342 False selective IgE deficiency disease dysgammaglobulinemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003740 MONDO:0000600 False AIDS phobia nosophobia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003743 MONDO:0021209 False heart malignant hemangiopericytoma heart neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0003744 MONDO:0020663 False spindle cell intraocular melanoma malignant spindle cell neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0003746 MONDO:0004188 False ciliary body spindle cell melanoma iris spindle cell melanoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003749 MONDO:0044991 False esophageal disorder upper digestive tract disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003754 MONDO:0003757 False Brown-Sequard syndrome paraplegia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003754 MONDO:0002254 False Brown-Sequard syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003757 MONDO:0006496 False paraplegia palsy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003762 MONDO:0016642 False malignant leptomeningeal tumor meningioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003763 MONDO:0020683 False acute stress disorder acute disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0003764 MONDO:0003057 False pediatric leptomeningeal melanoma pediatric meningioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003764 MONDO:0042494 False pediatric leptomeningeal melanoma childhood malignant melanoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0003766 MONDO:0003081 False thalamic cancer thalamic disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003769 MONDO:0005794 False herpetic gastritis Herpesviridae infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0003771 MONDO:0024653 False jugular foramen meningioma skull neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003772 MONDO:0000642 False cerebral meningioma brain meningioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003772 MONDO:0002731 False cerebral meningioma cerebral hemisphere cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003772 MONDO:0021322 False cerebral meningioma malignant tumor of meninges UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0003778 MONDO:0009453 False inborn error of immunity immune deficiency disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003781 MONDO:0001358 False bronchitis bronchial disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003780 MONDO:0021094 False T-cell immunodeficiency immunodeficiency disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0003781 MONDO:0021925 False bronchitis tracheobronchitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003783 MONDO:0003785 False lymphopenia leukopenia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003784 MONDO:0004647 False nasal cavity carcinoma in situ in situ carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003785 MONDO:0004805 False leukopenia leukocyte disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003792 MONDO:0005140 False ovarian carcinosarcoma ovarian carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003795 MONDO:0000402 False ovarian small cell carcinoma small cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003795 MONDO:0002481 False ovarian small cell carcinoma ovarian neuroendocrine neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003799 MONDO:0021166 False conjunctivitis inflammatory disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003803 MONDO:0005561 False aortic valve disorder aortic disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003803 MONDO:0045001 False aortic valve disorder cardiac ventricle disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0003806 MONDO:0005626 False thyroid hyalinizing trabecular adenoma epithelial neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0003809 MONDO:0021386 False malignant mediastinum hemangiopericytoma neoplasm of mediastinum UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0003811 MONDO:0021043 False ovarian seromucinous tumor mixed neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0003816 MONDO:0006816 False articular cartilage disorder arthropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003824 MONDO:0100191 False hereditary kidney oncocytoma inherited kidney disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0003827 MONDO:0016463 False transient hypogammaglobulinemia syndromic agammaglobulinemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0003828 MONDO:0002038 False growth hormone-producing pituitary gland carcinoma head and neck carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003828 MONDO:0002415 False growth hormone-producing pituitary gland carcinoma bone carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003828 MONDO:0019927 False growth hormone-producing pituitary gland carcinoma growth hormone-producing pituitary gland neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003830 MONDO:0003829 False type 1 papillary adenoma of the kidney chromophil adenoma of the kidney UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003831 MONDO:0003829 False type 2 papillary adenoma of the kidney chromophil adenoma of the kidney UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003832 MONDO:0003778 False complement deficiency inborn error of immunity UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003834 MONDO:0001063 False gastric cardia carcinoma cardia cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003837 MONDO:0003429 False TSH producing pituitary tumor functioning pituitary gland adenoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003844 MONDO:0000628 False central nervous system lipoma central nervous system organ benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003832 MONDO:0021094 False complement deficiency immunodeficiency disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0003846 MONDO:0043424 False viral esophagitis digestive system infectious disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0003847 MONDO:0700096 False hereditary disease human disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0003857 MONDO:0005094 False adult intracranial malignant hemangiopericytoma hemangiopericytoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003860 MONDO:0000642 False cerebellopontine angle meningioma brain meningioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003864 MONDO:0004948 False chronic lymphocytic leukemia/small lymphocytic lymphoma B-cell chronic lymphocytic leukemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003872 MONDO:0002533 False ovarian papillary cystadenoma papillary adenoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003876 MONDO:0002656 False eyelid carcinoma skin carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003879 MONDO:0002991 False ovarian endometrioid adenocarcinofibroma adenocarcinofibroma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003879 MONDO:0008170 False ovarian endometrioid adenocarcinofibroma ovarian cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003893 MONDO:0004972 False rete testis adenoma adenoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003898 MONDO:0003681 False pediatric myxoid chondrosarcoma myxoid chondrosarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003900 MONDO:0700096 False connective tissue disorder human disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0003901 MONDO:0002328 False cerebellar hemangioblastoma intracranial hemangioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003901 MONDO:0021499 False cerebellar hemangioblastoma benign neoplasm of cerebellum UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0003902 MONDO:0002328 False brain stem hemangioblastoma intracranial hemangioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003902 MONDO:0021507 False brain stem hemangioblastoma benign neoplasm of brain stem UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003909 MONDO:0002193 False Bartholin gland adenomyoma Bartholin gland benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003909 MONDO:0005635 False Bartholin gland adenomyoma adenomyoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003912 MONDO:0004064 False malignant ciliary body melanoma iris melanoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003916 MONDO:0005137 False overnutrition nutritional disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003926 MONDO:0021065 False neurilemmoma of the pleura pleural neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003927 MONDO:0006486 False posterior uveal melanoma uveal melanoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003930 MONDO:0005611 False non-invasive bladder urothelial carcinoma bladder transitional cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003931 MONDO:0004071 False childhood optic tract astrocytoma childhood cerebral astrocytoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003932 MONDO:0003235 False childhood optic nerve glioma optic nerve glioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003934 MONDO:0005590 False breast apocrine carcinoma breast ductal adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003936 MONDO:0004953 False invasive tubular breast carcinoma invasive ductal breast carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003937 MONDO:0021166 False spondylitis inflammatory disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0003937 MONDO:0045002 False spondylitis vertebral disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003939 MONDO:0002081 False muscle tissue disorder musculoskeletal system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003940 MONDO:0005095 False Kummell disease spondyloarthropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003940 MONDO:0005380 False Kummell disease osteonecrosis UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003940 MONDO:0045002 False Kummell disease vertebral disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0003944 MONDO:0002807 False endobronchial leiomyoma bronchial neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS @@ -13192,58 +20073,37 @@ MONDO:0003946 MONDO:0000502 False vaginal villous adenoma villous adenoma UNSUPP MONDO:0003950 MONDO:0000653 False nipple carcinoma integumentary system cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003954 MONDO:0003143 False angiokeratoma of Fordyce angiokeratoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003956 MONDO:0000812 False Baastrup syndrome vertebral column disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003956 MONDO:0005381 False Baastrup syndrome bone disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003960 MONDO:0003050 False pulmonary large cell neuroendocrine carcinoma lung large cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003962 MONDO:0002150 False Froelich syndrome hypothalamic disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003964 MONDO:0021167 False myositis ossificans myositis disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003965 MONDO:0004359 False Capgras syndrome delusional disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003969 MONDO:0002491 False amphetamine abuse substance abuse UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003962 MONDO:0002254 False Froelich syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003965 MONDO:0002254 False Capgras syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003976 MONDO:0006451 False malignant type AB thymoma thymic carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003979 MONDO:0003444 False intrahepatic bile duct cystadenoma intrahepatic bile duct adenoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003980 MONDO:0024653 False schwannoma of jugular foramen skull neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0003988 MONDO:0017814 False sternum lymphoma primary bone lymphoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003996 MONDO:0005560 False basal ganglia disorder brain disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004001 MONDO:0002254 False compartment syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004004 MONDO:0002122 False motor nerve neuritis neuritis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004004 MONDO:0002316 False motor nerve neuritis motor peripheral neuropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004005 MONDO:0005179 False rete ovarii adenoma ovarian adenoma benign UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0004006 MONDO:0000646 False rete ovarii cystadenofibroma ovarian benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004017 MONDO:0002073 False pineal region immature teratoma malignant pineal area germ cell neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004017 MONDO:0003514 False pineal region immature teratoma malignant teratoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004017 MONDO:0003578 False pineal region immature teratoma extragonadal nonseminomatous germ cell tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004024 MONDO:0000640 False spinal cord neuroblastoma central nervous system primitive neuroectodermal neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004026 MONDO:0006603 False skin tag reactive cutaneous fibrous lesion UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004031 MONDO:0005140 False ovary mixed epithelial carcinoma ovarian carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004037 MONDO:0005283 False retinal edema retinal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004038 MONDO:0002220 False dental enamel hypoplasia tooth hard tissue disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004039 MONDO:0002665 False papillary extrahepatic bile duct adenocarcinoma extrahepatic bile duct adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004046 MONDO:0000642 False childhood brain meningioma brain meningioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004026 MONDO:0060765 False skin tag fibroepithelial polyp UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0004047 MONDO:0002785 False sphenoidal sinus neoplasm skull base neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004047 MONDO:0023369 False sphenoidal sinus neoplasm disorder of facial skeleton UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004048 MONDO:0003112 False immature gastric teratoma malignant gastric germ cell tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004048 MONDO:0003514 False immature gastric teratoma malignant teratoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004048 MONDO:0003578 False immature gastric teratoma extragonadal nonseminomatous germ cell tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004049 MONDO:0003763 False combat disorder acute stress disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004054 MONDO:0004055 False acute canaliculitis acute inflammation of lacrimal passage UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004055 MONDO:0001854 False acute inflammation of lacrimal passage lacrimal apparatus disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004055 MONDO:0020683 False acute inflammation of lacrimal passage acute disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004058 MONDO:0001933 False pancreatic cholera endocrine pancreas disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004059 MONDO:0002220 False dentin sensitivity tooth hard tissue disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004066 MONDO:0004063 False intermediate cell type ciliary body melanoma intermediate cell type iris melanoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004069 MONDO:0015327 False inborn mitochondrial metabolism disorder developmental anomaly of metabolic origin UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004069 MONDO:0019243 False inborn mitochondrial metabolism disorder inborn disorder of energy metabolism UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0004069 MONDO:0044970 False inborn mitochondrial metabolism disorder mitochondrial disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004071 MONDO:0002731 False childhood cerebral astrocytoma cerebral hemisphere cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004071 MONDO:0005499 False childhood cerebral astrocytoma brain glioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004071 MONDO:0006517 False childhood cerebral astrocytoma childhood malignant neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0004076 MONDO:0024715 False tendon sheath lipoma benign synovial neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0004076 MONDO:0024876 False tendon sheath lipoma tendon sheath disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0004077 MONDO:0000812 False lumbosacral lipoma vertebral column disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004078 MONDO:0002739 False mucinous intrahepatic cholangiocarcinoma extrahepatic bile duct mucinous adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004079 MONDO:0003427 False lung mucous gland adenoma bronchus adenoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004082 MONDO:0004479 False childhood immature teratoma of ovary malignant childhood germ cell neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004083 MONDO:0002656 False Borst-Jadassohn intraepidermal carcinoma skin carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004095 MONDO:0004805 False B-cell neoplasm leukocyte disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004095 MONDO:0005062 False B-cell neoplasm lymphoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004104 MONDO:0004699 False splenic manifestation of hairy cell leukemia gastrointestinal lymphoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004109 MONDO:0021358 False epiglottis neoplasm neoplasm of hypopharynx UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0004116 MONDO:0003649 False esophageal small cell neuroendocrine carcinoma esophageal neuroendocrine tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS @@ -13252,56 +20112,32 @@ MONDO:0004117 MONDO:0024500 False ampulla of vater small cell neuroendocrine car MONDO:0004126 MONDO:0021166 False thyroiditis inflammatory disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0004131 MONDO:0027026 False anal verrucous carcinoma Buschke Lowenstein tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0004131 MONDO:0043424 False anal verrucous carcinoma digestive system infectious disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004133 MONDO:0006373 False pituitary gland mixed eosinophil-basophil adenoma pituitary gland adenoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004135 MONDO:0001949 False subacute lymphocytic thyroiditis acute thyroiditis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004140 MONDO:0003514 False intermediate malignant teratoma malignant teratoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004148 MONDO:0002512 False gallbladder papillary neoplasm with an associated invasive carcinoma papillary adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004149 MONDO:0006215 False gallbladder pleomorphic giant cell adenocarcinoma gallbladder adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004151 MONDO:0003544 False spinal meninges cancer spinal cord cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004151 MONDO:0021322 False spinal meninges cancer malignant tumor of meninges UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004156 MONDO:0002867 False pancreatic mucinous cystadenocarcinoma pancreatic cystadenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004156 MONDO:0005858 False pancreatic mucinous cystadenocarcinoma mucinous cystadenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004158 MONDO:0004156 False pancreatic mucinous-cystic neoplasm with an associated invasive carcinoma pancreatic mucinous cystadenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004159 MONDO:0004156 False pancreatic non-invasive mucinous cystadenocarcinoma pancreatic mucinous cystadenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004166 MONDO:0003847 False hereditary fallopian tube carcinoma hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004169 MONDO:0002263 False premenstrual tension female reproductive system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004170 MONDO:0001269 False nodular episcleritis scleral disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004172 MONDO:0002879 False uterine corpus adenocarcinofibroma uterine body mixed cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004172 MONDO:0002991 False uterine corpus adenocarcinofibroma adenocarcinofibroma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004173 MONDO:0001869 False adenocarcinoma of skene gland origin paraurethral gland cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004173 MONDO:0024336 False adenocarcinoma of skene gland origin vulvar adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004175 MONDO:0005461 False mucin-rich endometrial endometrioid adenocarcinoma endometrium adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004175 MONDO:0006192 False mucin-rich endometrial endometrioid adenocarcinoma endometrial endometrioid adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004182 MONDO:0004986 False stage IVb bladder cancer urinary bladder carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004185 MONDO:0005182 False ovarian serous cystadenofibroma serous cystadenofibroma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0004186 MONDO:0005172 False cranial nodular fasciitis skeletal system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004187 MONDO:0004830 False nodular fasciitis fasciitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004187 MONDO:0019296 False nodular fasciitis subcutaneous tissue disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004189 MONDO:0003749 False esophageal tuberculosis esophageal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004189 MONDO:0005768 False esophageal tuberculosis gastrointestinal tuberculosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004190 MONDO:0000384 False nephrogenic adenoma of urinary bladder bladder benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004191 MONDO:0002513 False nephrogenic adenoma kidney benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004190 MONDO:0004191 False nephrogenic adenoma of urinary bladder nephrogenic adenoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004202 MONDO:0002814 False adrenal medulla carcinoma adrenal carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004202 MONDO:0003606 False adrenal medulla carcinoma adrenal medulla cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004206 MONDO:0004634 False pulmonary vein leiomyosarcoma vein disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004204 MONDO:0001825 False squamous cell skin papilloma squamous papilloma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004206 MONDO:0016982 False pulmonary vein leiomyosarcoma angiosarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004206 MONDO:0040676 False pulmonary vein leiomyosarcoma great vessel cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004207 MONDO:0000473 False pulmonary artery leiomyosarcoma arterial disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004207 MONDO:0016982 False pulmonary artery leiomyosarcoma angiosarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004207 MONDO:0040676 False pulmonary artery leiomyosarcoma great vessel cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0004208 MONDO:0003032 False superior vena cava leiomyosarcoma superior vena cava angiosarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004212 MONDO:0024609 False vulvar keratoacanthoma-like carcinoma vulvar squamous cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004215 MONDO:0005119 False cutaneous anthrax anthrax infection UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004215 MONDO:0024295 False cutaneous anthrax skin disease caused by bacterial infection UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0004221 MONDO:0004526 False uterine corpus perivascular epithelioid cell tumor mixed endometrial stromal and smooth muscle tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004225 MONDO:0004960 False monoclonal gammopathy of uncertain significance monoclonal gammopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0004226 MONDO:0021098 False diffuse intraductal papillomatosis papillomatosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0004227 MONDO:0002373 False epididymal adenomatoid tumor benign mesothelioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004230 MONDO:0005065 False adenomatoid tumor mesothelioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0004235 MONDO:0021166 False diverticulitis inflammatory disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004241 MONDO:0002614 False Osgood-Schlatter disease bone inflammation disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004242 MONDO:0004247 False active peptic ulcer disease peptic ulcer disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004245 MONDO:0003266 False ependymal tumor of brain ependymal tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004245 MONDO:0005499 False ependymal tumor of brain brain glioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004247 MONDO:0043839 False peptic ulcer disease ulcer disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0004248 MONDO:0006517 False pediatric infratentorial ependymoma childhood malignant neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0004248 MONDO:0020685 False pediatric infratentorial ependymoma infratentorial ependymal tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -13311,190 +20147,114 @@ MONDO:0004250 MONDO:0003455 False extrahepatic bile duct papillary adenoma bile MONDO:0004251 MONDO:0024635 False small intestine neoplasm small intestine disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0004254 MONDO:0021098 False focal intraductal papillomatosis papillomatosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0004255 MONDO:0021629 False Wolffian adnexal tumor uterine ligament neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004259 MONDO:0005131 False endocervical carcinoma cervical carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004259 MONDO:0021309 False endocervical carcinoma malignant neoplasm of endocervix UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004260 MONDO:0004247 False peptic ulcer perforation peptic ulcer disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004263 MONDO:0002798 False pediatric infratentorial ependymoblastoma childhood central nervous system primitive neuroectodermal neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004263 MONDO:0003142 False pediatric infratentorial ependymoblastoma intracranial primitive neuroectodermal tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004264 MONDO:0004265 False acute gonococcal endometritis acute endometritis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004265 MONDO:0020683 False acute endometritis acute disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004269 MONDO:0003208 False breast cystic hypersecretory carcinoma breast secretory carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004272 MONDO:0005247 False urinary bladder tuberculosis bacterial urinary tract infection UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004272 MONDO:0006002 False urinary bladder tuberculosis urogenital tuberculosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004272 MONDO:0006026 False urinary bladder tuberculosis urinary bladder disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004273 MONDO:0002804 False breast apocrine adenoma apocrine adenoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004273 MONDO:0021110 False breast apocrine adenoma sweat gland adenoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0004273 MONDO:0021489 False breast apocrine adenoma benign neoplasm of sweat gland UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0004273 MONDO:0024666 False breast apocrine adenoma benign epithelial skin neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0004275 MONDO:0002415 False osteosarcoma arising in bone Paget disease bone carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004275 MONDO:0021165 False osteosarcoma arising in bone Paget disease Paget disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004277 MONDO:0000314 False gonorrhea primary bacterial infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004277 MONDO:0005323 False gonorrhea bacterial sexually transmitted disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004279 MONDO:0002639 False glossopharyngeal motor neuropathy glossopharyngeal nerve disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004280 MONDO:0004004 False asymmetric motor neuropathy motor nerve neuritis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004285 MONDO:0005192 False pancreatic intraductal papillary-mucinous carcinoma exocrine pancreatic carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004286 MONDO:0002116 False pancreatic intraductal papillary-mucinous neoplasm malignant exocrine pancreas neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004279 MONDO:0002316 False glossopharyngeal motor neuropathy motor peripheral neuropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004294 MONDO:0016096 False gestational ovarian choriocarcinoma malignant non-dysgerminomatous germ cell tumor of ovary UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0004310 MONDO:0002795 False adult embryonal tumor with multilayered rosettes, c19mc-altered adult central nervous system primitive neuroectodermal neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004311 MONDO:0003975 False carcinoma of Cowper glands Littre gland carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004311 MONDO:0005836 False carcinoma of Cowper glands male reproductive organ cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004312 MONDO:0023369 False suprasellar meningioma disorder of facial skeleton UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0004315 MONDO:0021581 False cholangiolocellular carcinoma connective tissue neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004323 MONDO:0005336 False muscular atrophy myopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004329 MONDO:0004285 False pancreatic intraductal papillary-mucinous neoplasm with high grade dysplasia pancreatic intraductal papillary-mucinous carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004331 MONDO:0001378 False bladder urachal adenocarcinoma urachus cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004333 MONDO:0023206 False pancreatic ACTH-producing neuroendocrine tumor functional pancreatic neuroendocrine tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0004335 MONDO:0700096 False digestive system disorder human disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0004337 MONDO:0002655 False perianal skin Paget disease cutaneous Paget disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004338 MONDO:0003072 False retinal cell cancer retinal cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004338 MONDO:0024341 False retinal cell cancer retinal cell neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0004339 MONDO:0023369 False tuberculum sellae meningioma disorder of facial skeleton UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004340 MONDO:0005184 False mixed ductal-endocrine carcinoma of pancreas pancreatic ductal adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004346 MONDO:0002664 False signet ring cell intrahepatic cholangiocarcinoma extrahepatic bile duct signet ring cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004348 MONDO:0002311 False retinal telangiectasia retinal vascular disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004352 MONDO:0004245 False adult brain ependymoma ependymal tumor of brain UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004359 MONDO:0005485 False delusional disorder psychotic disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004363 MONDO:0002542 False adult spinal cord glioblastoma spinal cord glioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004369 MONDO:0005240 False renal infectious disease kidney disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004373 MONDO:0003262 False adult papillary meningioma rhabdoid meningioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004374 MONDO:0002129 False adult extraskeletal osteosarcoma bone cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004378 MONDO:0002731 False pediatric cerebral ependymoblastoma cerebral hemisphere cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004378 MONDO:0002798 False pediatric cerebral ependymoblastoma childhood central nervous system primitive neuroectodermal neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004378 MONDO:0003142 False pediatric cerebral ependymoblastoma intracranial primitive neuroectodermal tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004380 MONDO:0000621 False dendritic cell sarcoma immune system cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004380 MONDO:0004805 False dendritic cell sarcoma leukocyte disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004380 MONDO:0005089 False dendritic cell sarcoma sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004380 MONDO:0006247 False dendritic cell sarcoma histiocytic and dendritic cell neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004382 MONDO:0004867 False laryngeal disorder upper respiratory tract disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004385 MONDO:0024617 False adult xanthogranuloma xanthogranuloma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004389 MONDO:0002875 False mite infestation parasitic ectoparasitic infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004390 MONDO:0005328 False ocular hypotension eye disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004387 MONDO:0024575 False luteoma of pregnancy pregnancy disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0004394 MONDO:0004958 False maxillary sinus squamous cell carcinoma oral cavity squamous cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004398 MONDO:0000638 False mediastinal schwannoma benign glioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0004398 MONDO:0056804 False mediastinal schwannoma benign neoplasm of peripheral nervous system UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004409 MONDO:0003950 False nipple duct carcinoma nipple carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004412 MONDO:0024240 False malignant spiradenoma eccrine carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004420 MONDO:0004988 False breast malignant eccrine spiradenoma breast adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004429 MONDO:0002898 False skin meningioma skin cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004429 MONDO:0016642 False skin meningioma meningioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004429 MONDO:0021322 False skin meningioma malignant tumor of meninges UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004431 MONDO:0006816 False hemarthrosis arthropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004436 MONDO:0016248 False ovarian myxoid liposarcoma familial ovarian cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0004440 MONDO:0000642 False pineal region meningioma brain meningioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004446 MONDO:0000642 False olfactory groove meningioma brain meningioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004447 MONDO:0000642 False pituitary stalk meningioma brain meningioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004447 MONDO:0002997 False pituitary stalk meningioma anterior cranial fossa meningioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004447 MONDO:0003257 False pituitary stalk meningioma posterior pituitary gland neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004450 MONDO:0003718 False carotid artery occlusion occlusion precerebral artery UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004450 MONDO:0005269 False carotid artery occlusion carotid artery disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004456 MONDO:0002491 False cocaine abuse substance abuse UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004461 MONDO:0024661 False vaginal tubulovillous adenoma tubulovillous adenoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0004462 MONDO:0003445 False extrahepatic bile duct cystadenoma extrahepatic bile duct adenoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004463 MONDO:0700007 False cellular phase chronic idiopathic myelofibrosis idiopathic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004464 MONDO:0004177 False nephrogenic adenoma of the urethra benign urethral neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004465 MONDO:0002670 False periampullary adenocarcinoma ampulla of vater adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004466 MONDO:0021166 False neuronitis inflammatory disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0004471 MONDO:0005113 False bacterial arthritis bacterial infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004471 MONDO:0042485 False bacterial arthritis infective arthritis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0004473 MONDO:0005216 False epiglottis cancer hypopharyngeal carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0004477 MONDO:0006076 False adrenal gland ganglioneuroblastoma adrenal gland neuroblastoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004481 MONDO:0004285 False pancreatic intraductal papillary-mucinous neoplasm with an associated invasive carcinoma pancreatic intraductal papillary-mucinous carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004489 MONDO:0003392 False fallopian tube gestational choriocarcinoma fallopian tube germ cell tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004490 MONDO:0004491 False gestational uterine corpus choriocarcinoma uterine corpus choriocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004490 MONDO:0020550 False gestational uterine corpus choriocarcinoma gestational choriocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004491 MONDO:0016273 False uterine corpus choriocarcinoma malignant germ cell tumor of corpus uteri UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0004492 MONDO:0021166 False mediastinitis inflammatory disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0004495 MONDO:0016107 False myotonic cataract myotonic dystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004496 MONDO:0000591 False myocarditis intrinsic cardiomyopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004496 MONDO:0024636 False myocarditis inflammation of heart layer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004502 MONDO:0016642 False parapharyngeal meningioma meningioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004496 MONDO:0024643 False myocarditis myocardial disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0004504 MONDO:0001325 False penile urethral cancer penile cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004508 MONDO:0005076 False periapical periodontitis periodontitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004510 MONDO:0005103 False inflammatory liposarcoma well-differentiated liposarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004517 MONDO:0001926 False ureter tuberculosis ureteral disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004517 MONDO:0005247 False ureter tuberculosis bacterial urinary tract infection UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004517 MONDO:0006002 False ureter tuberculosis urogenital tuberculosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004522 MONDO:0004335 False peritonitis digestive system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004522 MONDO:0043786 False peritonitis serositis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004524 MONDO:0005032 False thyroid gland atypical follicular adenoma follicular thyroid adenoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004525 MONDO:0004389 False scabies mite infestation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004525 MONDO:0021201 False scabies skin infection UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0004527 MONDO:0002320 False congenital granular cell tumor congenital nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004527 MONDO:0006235 False congenital granular cell tumor granular cell tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004528 MONDO:0024339 False lymph node palisaded myofibroblastoma lymph node neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004532 MONDO:0000649 False auditory system cancer sensory system cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004532 MONDO:0002409 False auditory system cancer auditory system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004538 MONDO:0002742 False endocervical type cervical mucinous adenocarcinoma cervical mucinous adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004539 MONDO:0005561 False aortic malignant tumor aortic disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004531 MONDO:0003725 False sclerosing adenosis of breast breast adenosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004546 MONDO:0001829 False lumbar plexus neoplasm lumbosacral plexus lesion UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004549 MONDO:0005766 False cork-handlers' disease fungal lung infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004549 MONDO:0017853 False cork-handlers' disease hypersensitivity pneumonitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004551 MONDO:0001229 False Meckel diverticulitis small intestine diverticulitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004551 MONDO:0043579 False Meckel diverticulitis enteritis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004555 MONDO:0002513 False kidney angiomyolipoma kidney benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004555 MONDO:0020581 False kidney angiomyolipoma benign PEComa UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0004557 MONDO:0002677 False congenital fibrosarcoma conventional fibrosarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004557 MONDO:0002678 False congenital fibrosarcoma pediatric fibrosarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004562 MONDO:0004658 False breast apocrine carcinoma in situ breast carcinoma in situ UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004564 MONDO:0003240 False thyroid malformation thyroid gland disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004565 MONDO:0005020 False intestinal obstruction intestinal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004566 MONDO:0001318 False postgastrectomy syndrome functional gastric disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004566 MONDO:0005020 False postgastrectomy syndrome intestinal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004567 MONDO:0004565 False ileus intestinal obstruction UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004569 MONDO:0006683 False brachial plexus neuropathy from injury brachial plexus neuropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004570 MONDO:0004565 False intestinal volvulus intestinal obstruction UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004571 MONDO:0004565 False intestinal impaction intestinal obstruction UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004568 MONDO:0004567 False paralytic ileus ileus UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004573 MONDO:0003847 False ariboflavinosis hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004573 MONDO:0006873 False ariboflavinosis nutritional deficiency disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004575 MONDO:0006873 False choline deficiency disease nutritional deficiency disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004574 MONDO:0042976 False pyridoxine deficiency anemia vitamin B deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0004577 MONDO:0043839 False corneal ulcer ulcer disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004578 MONDO:0004579 False flat retinoschisis retinoschisis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004579 MONDO:0004580 False retinoschisis retinal degeneration UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004584 MONDO:0002312 False maple bark strippers' lung opportunistic mycosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004582 MONDO:0006955 False rheumatic myocarditis rheumatic heart disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004584 MONDO:0005766 False maple bark strippers' lung fungal lung infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0004584 MONDO:0017853 False maple bark strippers' lung hypersensitivity pneumonitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004585 MONDO:0024575 False polyhydramnios pregnancy disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004586 MONDO:0005275 False rheumatoid lung disease lung disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004586 MONDO:0007179 False rheumatoid lung disease autoimmune disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004587 MONDO:0003847 False hereditary night blindness hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004587 MONDO:0004588 False hereditary night blindness night blindness UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004588 MONDO:0005283 False night blindness retinal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004591 MONDO:0004592 False impetigo herpetiformis impetigo UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004588 MONDO:0001941 False night blindness blindness (disorder) UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004591 MONDO:0024575 False impetigo herpetiformis pregnancy disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004592 MONDO:0002922 False impetigo pyoderma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004592 MONDO:0005545 False impetigo staphylococcus aureus infection UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0004592 MONDO:0021201 False impetigo skin infection UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0004592 MONDO:0021680 False impetigo streptococcal infection UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0004592 MONDO:0024295 False impetigo skin disease caused by bacterial infection UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0004593 MONDO:0002051 False Bartholin duct cyst integumentary system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004593 MONDO:0002263 False Bartholin duct cyst female reproductive system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004594 MONDO:0005279 False puerperal pulmonary embolism pulmonary embolism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004596 MONDO:0005009 False cor pulmonale congestive heart failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004598 MONDO:0004596 False acute cor pulmonale cor pulmonale UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004597 MONDO:0005275 False pulmonary embolism and infarction lung disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004598 MONDO:0020683 False acute cor pulmonale acute disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004599 MONDO:0002491 False barbiturate abuse substance abuse UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004600 MONDO:0005059 False monocytic leukemia leukemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004601 MONDO:0004605 False ulcer of lower limbs chronic ulcer of skin UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004605 MONDO:0005093 False chronic ulcer of skin skin disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004609 MONDO:0005794 False herpes simplex infectious disease Herpesviridae infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004612 MONDO:0002637 False malignant histiocytosis histiocytosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004613 MONDO:0020675 False acute intestinal ischemia ischemic bowel disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0004613 MONDO:0020683 False acute intestinal ischemia acute disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0004614 MONDO:0001014 False chronic monocytic leukemia chronic leukemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004614 MONDO:0004600 False chronic monocytic leukemia monocytic leukemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004615 MONDO:0005507 False upper gum cancer gingival cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004616 MONDO:0004609 False herpetic whitlow herpes simplex infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004616 MONDO:0005898 False herpetic whitlow paronychia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004616 MONDO:0024294 False herpetic whitlow skin disorder caused by infection UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0004616 MONDO:0024487 False herpetic whitlow nail infection UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004618 MONDO:0005071 False diplegia of upper limb nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004619 MONDO:0005857 False measles morbillivirus infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004621 MONDO:0006834 False upper lip cancer lip cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004622 MONDO:0005020 False chronic intestinal vascular insufficiency intestinal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004622 MONDO:0020674 False chronic intestinal vascular insufficiency vascular insufficiency disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0004625 MONDO:0018882 False phlebitis vasculitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004627 MONDO:0002866 False duodenitis duodenal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004627 MONDO:0043579 False duodenitis enteritis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0004628 MONDO:0001126 False gastroduodenitis gastric ulcer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004628 MONDO:0004627 False gastroduodenitis duodenitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004628 MONDO:0004966 False gastroduodenitis gastritis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004629 MONDO:0020683 False subacute delirium acute disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0004629 MONDO:0045057 False subacute delirium delirium UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004630 MONDO:0005485 False substance-induced psychosis psychotic disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004631 MONDO:0000649 False tongue cancer sensory system cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004636 MONDO:0000371 False lip carcinoma in situ oral cavity carcinoma in situ UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004637 MONDO:0002352 False aryepiglottic fold cancer larynx cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004638 MONDO:0000612 False lymphosarcoma lymphatic system cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0004638 MONDO:0018908 False lymphosarcoma non-Hodgkin lymphoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -13503,328 +20263,176 @@ MONDO:0004642 MONDO:0000637 False tonsillar pillar cancer musculoskeletal system MONDO:0004642 MONDO:0003939 False tonsillar pillar cancer muscle tissue disorder UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004643 MONDO:0020076 False myeloid leukemia myeloproliferative neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004644 MONDO:0007896 False subacute monocytic leukemia acute monocytic leukemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004646 MONDO:0004605 False decubitus ulcer chronic ulcer of skin UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004647 MONDO:0020665 False in situ carcinoma high grade malignant neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0004648 MONDO:0011057 False vascular dementia cerebrovascular disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004649 MONDO:0004652 False anaerobic pneumonia bacterial pneumonia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004649 MONDO:0024389 False anaerobic pneumonia anaerobic bacteria infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004650 MONDO:0002095 False malignant carotid body paraganglioma vascular cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004650 MONDO:0002714 False malignant carotid body paraganglioma central nervous system cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004651 MONDO:0100329 False smallpox primary viral infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0004653 MONDO:0004643 False atypical chronic myeloid leukemia, BCR-ABL1 negative myeloid leukemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004653 MONDO:0020077 False atypical chronic myeloid leukemia, BCR-ABL1 negative myelodysplastic/myeloproliferative disease UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0004656 MONDO:0100329 False rubella primary viral infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004657 MONDO:0004674 False disseminated chorioretinitis chorioretinitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004659 MONDO:0002466 False eye carcinoma in situ eye carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004659 MONDO:0004647 False eye carcinoma in situ in situ carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004662 MONDO:0004664 False heterophyiasis helminthiasis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004663 MONDO:0004698 False colon carcinoma in situ intestine carcinoma in situ UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004666 MONDO:0004664 False metagonimiasis helminthiasis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004669 MONDO:0005515 False salivary gland cancer oral cavity cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004673 MONDO:0006834 False lower lip cancer lip cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004675 MONDO:0009637 False mitochondrial encephalomyopathy inborn mitochondrial myopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004677 MONDO:0024268 False tinea nigra superficial mycosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004670 MONDO:0005554 False lupus erythematosus rheumatic disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004674 MONDO:0020283 False chorioretinitis uveitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004678 MONDO:0005982 False dermatophytosis tinea infection UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0004678 MONDO:0024268 False dermatophytosis superficial mycosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004679 MONDO:0001433 False leukoplakia of vagina vaginal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004680 MONDO:0000602 False primary thrombocytopenia autoimmune disorder of blood UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004681 MONDO:0000592 False learning disability specific developmental disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004679 MONDO:0043243 False leukoplakia of vagina leukoplakia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0004682 MONDO:0002131 False retromolar area cancer jaw cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004682 MONDO:0005515 False retromolar area cancer oral cavity cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004682 MONDO:0037744 False retromolar area cancer neoplasm of retromolar area UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004685 MONDO:0000621 False Waldeyer's ring cancer immune system cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004685 MONDO:0004608 False Waldeyer's ring cancer oropharynx cancer UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004685 MONDO:0044986 False Waldeyer's ring cancer lymphoid system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0004686 MONDO:0020213 False lattice corneal dystrophy stromal corneal dystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004687 MONDO:0001661 False severe nonproliferative diabetic retinopathy background diabetic retinopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004689 MONDO:0019052 False inborn metal metabolism disorder inborn errors of metabolism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004691 MONDO:0000426 False autosomal dominant polycystic kidney disease autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004697 MONDO:0003749 False esophageal leukoplakia esophageal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004698 MONDO:0004647 False intestine carcinoma in situ in situ carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004697 MONDO:0043243 False esophageal leukoplakia leukoplakia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0004698 MONDO:0005814 False intestine carcinoma in situ intestinal cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004698 MONDO:0006181 False intestine carcinoma in situ digestive system carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004702 MONDO:0002256 False uterine cervix leukoplakia cervix disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004702 MONDO:0043243 False uterine cervix leukoplakia leukoplakia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0004705 MONDO:0005167 False liver solitary fibrous tumor fibroma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004706 MONDO:0002137 False discoid lupus erythematosus of eyelid noninfectious dermatoses of eyelid UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004707 MONDO:0004725 False anal canal carcinoma in situ rectum carcinoma in situ UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004709 MONDO:0044996 False occipital lobe neoplasm cerebral cortex disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004710 MONDO:0004647 False uterus carcinoma in situ in situ carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004710 MONDO:0005213 False uterus carcinoma in situ uterine carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004713 MONDO:0005507 False lower gum cancer gingival cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004714 MONDO:0003939 False atrophic muscular disease muscle tissue disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004714 MONDO:0019056 False atrophic muscular disease neuromuscular disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004715 MONDO:0004647 False liver carcinoma in situ in situ carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004712 MONDO:0021201 False herpes simplex dermatitis skin infection UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0004715 MONDO:0018531 False liver carcinoma in situ carcinoma of liver and intrahepatic biliary tract UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004717 MONDO:0002405 False peliosis hepatis hepatic vascular disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004718 MONDO:0002137 False xeroderma of eyelid noninfectious dermatoses of eyelid UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004723 MONDO:0000627 False liver leiomyoma benign endocrine neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004725 MONDO:0004698 False rectum carcinoma in situ intestine carcinoma in situ UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004727 MONDO:0005515 False vestibule of mouth cancer oral cavity cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004728 MONDO:0005266 False diabetic macular edema diabetic retinopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004729 MONDO:0003749 False dyskinesia of esophagus esophageal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004731 MONDO:0005296 False central sleep apnea syndrome sleep apnea syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004732 MONDO:0004647 False kidney carcinoma in situ in situ carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004731 MONDO:0002254 False central sleep apnea syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004732 MONDO:0005206 False kidney carcinoma in situ renal carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004736 MONDO:0019052 False inborn disorder of amino acid metabolism inborn errors of metabolism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004737 MONDO:0004736 False homocystinuria inborn disorder of amino acid metabolism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004737 MONDO:0019222 False homocystinuria inborn disorder of methionine cycle and sulfur amino acid metabolism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004739 MONDO:0004736 False urea cycle disorder inborn disorder of amino acid metabolism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004739 MONDO:0019189 False urea cycle disorder inborn disorder of amino acid and other organic acid metabolism UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0004737 MONDO:0037871 False homocystinuria amino acid metabolism disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0004741 MONDO:0017307 False tyrosinemia disorder of tyrosine metabolism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0004742 MONDO:0022687 False primary cerebellar degeneration cerebellar degeneration UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004744 MONDO:0005041 False borderline glaucoma glaucoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004745 MONDO:0005294 False priapism peripheral vascular disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004743 MONDO:0004737 False hyperhomocysteinemia homocystinuria UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004745 MONDO:0005362 False priapism erectile dysfunction UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004746 MONDO:0000462 False myopathy of extraocular muscle eye adnexa disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004746 MONDO:0005336 False myopathy of extraocular muscle myopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004746 MONDO:0024458 False myopathy of extraocular muscle disorder of visual system UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004747 MONDO:0000358 False cleft lip orofacial cleft UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004750 MONDO:0002182 False language disorder communication disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004751 MONDO:0000462 False disease of orbital part of eye adnexa eye adnexa disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0004752 MONDO:0001340 False neurofibroma of the heart heart cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004752 MONDO:0021089 False neurofibroma of the heart peripheral nervous system cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0004752 MONDO:0100342 False neurofibroma of the heart malignant glioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004753 MONDO:0003432 False mechanical strabismus strabismus UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004754 MONDO:0001593 False rectal prolapse rectal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004755 MONDO:0004664 False monieziasis helminthiasis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004756 MONDO:0020641 False nasal cavity neoplasm respiratory tract neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004758 MONDO:0005328 False scotoma eye disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004759 MONDO:0000596 False zoophilia paraphilic disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004760 MONDO:0004184 False urethral false passage urethral disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004762 MONDO:0002654 False Taylor syndrome uterine disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004764 MONDO:0002183 False fibular collateral ligament bursitis enthesopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004765 MONDO:0004979 False intrinsic asthma asthma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004757 MONDO:0006031 False chronic ethmoidal sinusitis chronic rhinosinusitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0004767 MONDO:0006882 False vesiculitis orchitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004768 MONDO:0003799 False keratoconjunctivitis conjunctivitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004769 MONDO:0001849 False orbital plasma cell granuloma chronic orbital inflammation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004769 MONDO:0021167 False orbital plasma cell granuloma myositis disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004770 MONDO:0005328 False exophthalmos eye disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004772 MONDO:0004773 False glaucomatocyclitic crisis iridocyclitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004773 MONDO:0002970 False iridocyclitis ciliary body disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004773 MONDO:0006814 False iridocyclitis iritis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004774 MONDO:0004853 False gonococcal iridocyclitis gonococcal endophthalmia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004774 MONDO:0017210 False gonococcal iridocyclitis infectious anterior uveitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004775 MONDO:0004773 False lens-induced iridocyclitis iridocyclitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004777 MONDO:0020683 False acute laryngitis acute disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004778 MONDO:0004779 False epididymo-orchitis epididymitis UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004778 MONDO:0006882 False epididymo-orchitis orchitis UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004779 MONDO:0005550 False epididymitis infectious disease UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004779 MONDO:0021166 False epididymitis inflammatory disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004780 MONDO:0004781 False strictly posterior acute myocardial infarction acute myocardial infarction UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004781 MONDO:0020683 False acute myocardial infarction acute disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004782 MONDO:0005240 False diabetes insipidus kidney disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004784 MONDO:0000771 False allergic asthma allergic respiratory disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004784 MONDO:0004979 False allergic asthma asthma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004785 MONDO:0003382 False blepharitis eyelid disorder UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004785 MONDO:0021166 False blepharitis inflammatory disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0004789 MONDO:0006322 False cholangitis non-neoplastic bile duct disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0004789 MONDO:0021166 False cholangitis inflammatory disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004790 MONDO:0005154 False fatty liver disease liver disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004792 MONDO:0002158 False cancer of isthmus of fallopian tube fallopian tube cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004794 MONDO:0004768 False exposure keratitis keratoconjunctivitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004795 MONDO:0021666 False otitis externa ear infection UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0004795 MONDO:0021669 False otitis externa post-infectious disorder UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004797 MONDO:0002121 False mononeuritis of lower limb mononeuritis simplex UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004799 MONDO:0004785 False ulcerative blepharitis blepharitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004800 MONDO:0004804 False chronic dacryoadenitis dacryoadenitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004801 MONDO:0002467 False unilateral hypoactive labyrinth inner ear disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004802 MONDO:0015691 False pulmonary eosinophilia hypereosinophilic syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004796 MONDO:0021108 False infectious meningitis meningitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0004796 MONDO:0024619 False infectious meningitis central nervous system infectious disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0004803 MONDO:0004603 False disseminated eosinophilic collagen disease collagenopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004803 MONDO:0015691 False disseminated eosinophilic collagen disease hypereosinophilic syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004804 MONDO:0021166 False dacryoadenitis inflammatory disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0004804 MONDO:0024625 False dacryoadenitis disorder of lacrimal gland UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0004805 MONDO:0005046 False leukocyte disorder immune system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004805 MONDO:0005570 False leukocyte disorder hematologic disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004808 MONDO:0002051 False benign mammary dysplasia integumentary system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004808 MONDO:0002657 False benign mammary dysplasia breast disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004810 MONDO:0005756 False acute ethmoiditis ethmoid sinusitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004810 MONDO:0020683 False acute ethmoiditis acute disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004811 MONDO:0002314 False simple chronic conjunctivitis chronic conjunctivitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004812 MONDO:0004804 False acute dacryoadenitis dacryoadenitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004812 MONDO:0020683 False acute dacryoadenitis acute disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004813 MONDO:0002076 False tuberculous pneumothorax pneumothorax UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004819 MONDO:0005235 False indolent plasma cell myeloma smoldering plasma cell myeloma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004821 MONDO:0004867 False nasopharyngeal disorder upper respiratory tract disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004822 MONDO:0001358 False bronchiectasis bronchial disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004821 MONDO:0020592 False nasopharyngeal disorder disorder of pharynx UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0004822 MONDO:0003847 False bronchiectasis hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004826 MONDO:0004184 False urethral calculus urethral disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004826 MONDO:0004828 False urethral calculus lower urinary tract calculus UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004822 MONDO:0005002 False bronchiectasis chronic obstructive pulmonary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS MONDO:0004829 MONDO:0002752 False Krukenberg carcinoma ovarian adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004830 MONDO:0002081 False fasciitis musculoskeletal system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004830 MONDO:0003900 False fasciitis connective tissue disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004830 MONDO:0021166 False fasciitis inflammatory disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004831 MONDO:0004830 False proliferative fasciitis fasciitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004833 MONDO:0004830 False plantar fasciitis fasciitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004838 MONDO:0005240 False orthostatic proteinuria kidney disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004840 MONDO:0002473 False non-congenital cyst of kidney cystic kidney disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004842 MONDO:0020579 False stomatitis mucositis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0004842 MONDO:0044992 False stomatitis mouth mucosa disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004843 MONDO:0001584 False pathologic nystagmus ocular motility disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004844 MONDO:0043243 False oral mucosa leukoplakia leukoplakia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0004844 MONDO:0044992 False oral mucosa leukoplakia mouth mucosa disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004845 MONDO:0004842 False aphthous stomatitis stomatitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004851 MONDO:0002815 False toxic myocarditis acute myocarditis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004852 MONDO:0004853 False gonococcal keratitis gonococcal endophthalmia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004852 MONDO:0021201 False gonococcal keratitis skin infection UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0004852 MONDO:0023865 False gonococcal keratitis corneal infection UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0004852 MONDO:0024295 False gonococcal keratitis skin disease caused by bacterial infection UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0004853 MONDO:0004277 False gonococcal endophthalmia gonorrhea UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004853 MONDO:0016047 False gonococcal endophthalmia endophthalmitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004854 MONDO:0015455 False ophthalmia neonatorum gonococcal conjunctivitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004855 MONDO:0004857 False tenosynovitis tendinitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004855 MONDO:0006816 False tenosynovitis arthropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004855 MONDO:0024876 False tenosynovitis tendon sheath disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004856 MONDO:0003799 False rosacea conjunctivitis conjunctivitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004857 MONDO:0021167 False tendinitis myositis disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004857 MONDO:0100010 False tendinitis tendinopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0004860 MONDO:0044137 False vitreous disorder vitreous body disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004861 MONDO:0005328 False ophthalmia nodosa eye disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004862 MONDO:0004860 False vitreous abscess vitreous disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004862 MONDO:0004863 False vitreous abscess purulent endophthalmitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004862 MONDO:0005227 False vitreous abscess abscess UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004863 MONDO:0016047 False purulent endophthalmitis endophthalmitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004864 MONDO:0004865 False acute allergic mucoid otitis media blue drum syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004865 MONDO:0002738 False blue drum syndrome acute transudative otitis media UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004867 MONDO:0005087 False upper respiratory tract disorder respiratory system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004868 MONDO:0002515 False biliary tract disorder hepatobiliary disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004869 MONDO:0008638 False pelvic varices varicose disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004871 MONDO:0004872 False perianal hematoma hemorrhoid UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004872 MONDO:0004869 False hemorrhoid pelvic varices UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004874 MONDO:0006816 False ganglion or cyst of synovium/tendon/bursa arthropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004876 MONDO:0005068 False myocardial stunning myocardial infarction UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004877 MONDO:0024277 False transient neonatal thrombocytopenia neonatal thrombocytopenia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004878 MONDO:0004379 False female breast upper-outer quadrant cancer female breast carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004879 MONDO:0004885 False senile atrophy of choroid choroidal sclerosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004880 MONDO:0005020 False bowel dysfunction intestinal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004882 MONDO:0004885 False angioid streaks of choroid choroidal sclerosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004882 MONDO:0011782 False angioid streaks of choroid angioid streaks UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004882 MONDO:0024237 False angioid streaks of choroid inherited neurodegenerative disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004883 MONDO:0004885 False hereditary choroidal atrophy choroidal sclerosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004884 MONDO:0005328 False eye degenerative disorder eye disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004884 MONDO:0005559 False eye degenerative disorder neurodegenerative disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004885 MONDO:0001898 False choroidal sclerosis optic choroid disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004885 MONDO:0004884 False choroidal sclerosis eye degenerative disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004885 MONDO:0043218 False choroidal sclerosis neurovascular disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004886 MONDO:0004885 False diffuse secondary choroid atrophy choroidal sclerosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004888 MONDO:0004883 False partial circumpapillary choroid dystrophy hereditary choroidal atrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004889 MONDO:0008982 False total central choroidal atrophy central areolar choroidal dystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0004889 MONDO:0010557 False total central choroidal atrophy choroideremia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004890 MONDO:0008982 False partial central choroid dystrophy central areolar choroidal dystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004891 MONDO:0004892 False hyperopia refractive error UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004892 MONDO:0005328 False refractive error eye disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004894 MONDO:0003432 False cyclotropia strabismus UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004895 MONDO:0004896 False accommodative esotropia esotropia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004898 MONDO:0004883 False total circumpapillary dystrophy of choroid hereditary choroidal atrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004899 MONDO:0003432 False monofixation syndrome strabismus UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004900 MONDO:0002643 False peripheral vertigo vestibular disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004901 MONDO:0005395 False lingual-facial-buccal dyskinesia movement disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004902 MONDO:0003900 False interstitial keratitis connective tissue disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004902 MONDO:0004903 False interstitial keratitis deep keratitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004903 MONDO:0003085 False deep keratitis keratitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004904 MONDO:0002175 False toxic maculopathy degeneration of macula and posterior pole UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004905 MONDO:0020598 False intestinal disaccharidase deficiency malabsorption syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0004905 MONDO:0037792 False intestinal disaccharidase deficiency carbohydrate metabolism disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004907 MONDO:0019278 False alopecia hair anomaly UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004909 MONDO:0004184 False urethral gland abscess urethral disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004911 MONDO:0004497 False cardiovascular syphilis tertiary syphilis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004913 MONDO:0004896 False alternating esotropia esotropia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004914 MONDO:0000473 False celiac artery stenosis from compression by median arcuate ligament of diaphragm arterial disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004914 MONDO:0002254 False celiac artery stenosis from compression by median arcuate ligament of diaphragm syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004914 MONDO:0003847 False celiac artery stenosis from compression by median arcuate ligament of diaphragm hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004917 MONDO:0005800 False internal hordeolum hordeolum UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004917 MONDO:0006607 False internal hordeolum sebaceous gland disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004917 MONDO:0024481 False internal hordeolum skin appendage disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004918 MONDO:0004577 False central corneal ulcer corneal ulcer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004919 MONDO:0004920 False infected hydrocele hydrocele UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004920 MONDO:0003150 False hydrocele male reproductive system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004922 MONDO:0000592 False developmental coordination disorder specific developmental disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004923 MONDO:0001854 False chronic inflammation of lacrimal passage lacrimal apparatus disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004923 MONDO:0021166 False chronic inflammation of lacrimal passage inflammatory disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004924 MONDO:0004923 False chronic canaliculitis chronic inflammation of lacrimal passage UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004924 MONDO:0005631 False chronic canaliculitis actinomycosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004924 MONDO:0043885 False chronic canaliculitis eye infectious disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0004925 MONDO:0004923 False chronic dacryocystitis chronic inflammation of lacrimal passage UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004925 MONDO:0004926 False chronic dacryocystitis dacryocystitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004926 MONDO:0021166 False dacryocystitis inflammatory disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0004926 MONDO:0044984 False dacryocystitis nasolacrimal duct disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004927 MONDO:0004923 False dacryocystocele chronic inflammation of lacrimal passage UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004928 MONDO:0005833 False lymph node disorder lymphatic system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004929 MONDO:0004751 False constant exophthalmos disease of orbital part of eye adnexa UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004930 MONDO:0005041 False steroid-induced glaucoma glaucoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004931 MONDO:0004930 False residual stage corticosteroid-induced glaucoma steroid-induced glaucoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004932 MONDO:0004967 False null-cell leukemia acute lymphoblastic leukemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004933 MONDO:0002254 False hypoplastic left heart syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004933 MONDO:0003847 False hypoplastic left heart syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004933 MONDO:0005453 False hypoplastic left heart syndrome congenital heart disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004933 MONDO:0005584 False hypoplastic left heart syndrome congenital left-sided heart lesions UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004933 MONDO:0019820 False hypoplastic left heart syndrome univentricular cardiopathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004934 MONDO:0003900 False periostitis connective tissue disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004934 MONDO:0005381 False periostitis bone disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004934 MONDO:0021166 False periostitis inflammatory disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004936 MONDO:0002654 False uterine inversion uterine disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004937 MONDO:0003916 False hypervitaminosis D overnutrition UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004938 MONDO:0002494 False substance dependence substance-related disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004940 MONDO:0020683 False acute female pelvic peritonitis acute disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004941 MONDO:0015691 False eosinophilia-myalgia syndrome hypereosinophilic syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004944 MONDO:0004497 False neurosyphilis tertiary syphilis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004946 MONDO:0002908 False hypoglycemia glucose metabolism disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004947 MONDO:0004967 False B-cell acute lymphoblastic leukemia acute lymphoblastic leukemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004947 MONDO:0015759 False B-cell acute lymphoblastic leukemia B-cell non-Hodgkin lymphoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0004948 MONDO:0004967 False B-cell chronic lymphocytic leukemia acute lymphoblastic leukemia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004948 MONDO:0017594 False B-cell chronic lymphocytic leukemia indolent B-cell non-Hodgkin lymphoma UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0004951 MONDO:0015979 False susceptibility to HIV infection hereditary predisposition to infections UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004952 MONDO:0017343 False Hodgkins lymphoma Epstein-Barr virus-associated malignant lymphoproliferative disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0004957 MONDO:0020596 False mucinous adenocarcinoma mucin-producing carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0004960 MONDO:0005570 False monoclonal gammopathy hematologic disorder UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0004966 MONDO:0021166 False gastritis inflammatory disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0004967 MONDO:0005168 False acute lymphoblastic leukemia neoplasm of immature B and T cells UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004967 MONDO:0018908 False acute lymphoblastic leukemia non-Hodgkin lymphoma UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004971 MONDO:0004970 False adenoid cystic carcinoma adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004973 MONDO:0056806 False adenosquamous lung carcinoma non-small cell squamous lung carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004975 MONDO:0005574 False Alzheimer disease tauopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004975 MONDO:0001627 False Alzheimer disease dementia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004976 MONDO:0003182 False amyotrophic lateral sclerosis anterior horn disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004979 MONDO:0001358 False asthma bronchial disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004980 MONDO:0005271 False atopic eczema allergic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004980 MONDO:0100118 False atopic eczema hereditary skin disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0004981 MONDO:0007263 False atrial fibrillation cardiac rhythm disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0004982 MONDO:0021166 False pancreatitis inflammatory disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0004983 MONDO:0003847 False spermatogenic failure hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004983 MONDO:0005372 False spermatogenic failure male infertility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004984 MONDO:0004953 False basal-like breast carcinoma invasive ductal breast carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0004984 MONDO:0005494 False basal-like breast carcinoma triple-negative breast carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0004988 MONDO:0000653 False breast adenocarcinoma integumentary system cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004990 MONDO:0006116 False breast tumor luminal A or B breast carcinoma by gene expression profile UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0004994 MONDO:0003939 False cardiomyopathy muscle tissue disorder UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004995 MONDO:0700096 False cardiovascular disorder human disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005002 MONDO:0002267 False chronic obstructive pulmonary disease obstructive lung disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0005001 MONDO:0004966 False chronic gastritis gastritis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005002 MONDO:0002567 False chronic obstructive pulmonary disease tracheal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0005003 MONDO:0004982 False chronic pancreatitis pancreatitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005005 MONDO:0007763 False clear cell renal carcinoma nonpapillary renal cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0005006 MONDO:0002926 False clear cell sarcoma of kidney clear cell sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0005010 MONDO:0000473 False coronary artery disorder arterial disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0005009 MONDO:0005252 False congestive heart failure heart failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0005010 MONDO:0005267 False coronary artery disorder heart disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0005013 MONDO:0000515 False dedifferentiated chondrosarcoma bone chondrosarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0005015 MONDO:0001933 False diabetes mellitus endocrine pancreas disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0005016 MONDO:0005066 False diabetic kidney disease metabolic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005019 MONDO:0005100 False diffuse scleroderma systemic sclerosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0005021 MONDO:0000591 False dilated cardiomyopathy intrinsic cardiomyopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0005025 MONDO:0000470 False endocarditis endocardium disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0005016 MONDO:0005300 False diabetic kidney disease chronic kidney disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005025 MONDO:0024636 False endocarditis inflammation of heart layer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005026 MONDO:0001416 False endometrioid adenocarcinoma female reproductive organ cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005029 MONDO:0002249 False essential thrombocythemia thrombocytosis disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0005030 MONDO:0005917 False fetal growth restriction placenta disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005033 MONDO:0000640 False ganglioneuroma central nervous system primitive neuroectodermal neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0005033 MONDO:0006316 False ganglioneuroma neuroblastic tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005033 MONDO:0016729 False ganglioneuroma mixed neuronal-glial tumor UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005033 MONDO:0021089 False ganglioneuroma peripheral nervous system cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005033 MONDO:0044993 False ganglioneuroma sympathetic nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005037 MONDO:0005814 False gastric intestinal type adenocarcinoma intestinal cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005039 MONDO:0700096 False reproductive system disorder human disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005043 MONDO:0045024 False hyperplasia cell proliferation disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005044 MONDO:0000473 False hypertensive disorder arterial disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0005045 MONDO:0000591 False hypertrophic cardiomyopathy intrinsic cardiomyopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0005046 MONDO:0700096 False immune system disorder human disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005047 MONDO:0005039 False infertility disorder reproductive system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0005050 MONDO:0004953 False invasive ductal and lobular carcinoma invasive ductal breast carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005053 MONDO:0005385 False ischemic disease vascular disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0005055 MONDO:0005108 False Kaposi's sarcoma viral infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0005055 MONDO:0015157 False Kaposi's sarcoma human herpesvirus 8-related tumor UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0005052 MONDO:0002254 False irritable bowel syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0005055 MONDO:0016982 False Kaposi's sarcoma angiosarcoma UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0005058 MONDO:0017345 False leiomyosarcoma Epstein-Barr virus-associated mesenchymal tumor UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005058 MONDO:0018078 False leiomyosarcoma soft tissue sarcoma UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005060 MONDO:0002813 False liposarcoma lipomatous cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005060 MONDO:0018078 False liposarcoma soft tissue sarcoma UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005062 MONDO:0015757 False lymphoma lymphoid hemopathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0005065 MONDO:0006856 False mesothelioma mesothelial neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005066 MONDO:0700096 False metabolic disease human disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0005068 MONDO:0024643 False myocardial infarction myocardial disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005070 MONDO:0023370 False neoplasm neoplastic disease or syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005071 MONDO:0700096 False nervous system disorder human disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005072 MONDO:0021635 False neuroblastoma neurocristopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -13834,43 +20442,37 @@ MONDO:0005076 MONDO:0021166 False periodontitis inflammatory disease UNSUPPORTED MONDO:0005077 MONDO:0005087 False pertussis respiratory system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0005077 MONDO:0037872 False pertussis bordetellosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005079 MONDO:0045024 False polyp cell proliferation disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005080 MONDO:0002405 False portal hypertension hepatic vascular disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0005081 MONDO:0003847 False preeclampsia hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0005083 MONDO:0005046 False psoriasis immune system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0005081 MONDO:0045048 False preeclampsia toxemia of pregnancy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0005083 MONDO:0002406 False psoriasis dermatitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0005083 MONDO:0100118 False psoriasis hereditary skin disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005084 MONDO:0002025 False mental disorder psychiatric disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005084 MONDO:0005560 False mental disorder brain disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005085 MONDO:0021452 False pterygium benign neoplasm of cornea UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005086 MONDO:0004970 False renal cell carcinoma adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0005086 MONDO:0005206 False renal cell carcinoma renal carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0005087 MONDO:0700096 False respiratory system disorder human disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005090 MONDO:0005485 False schizophrenia psychotic disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0005091 MONDO:0005087 False severe acute respiratory syndrome respiratory system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0005091 MONDO:0020683 False severe acute respiratory syndrome acute disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005091 MONDO:0020753 False severe acute respiratory syndrome Orthocoronavirinae infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0005093 MONDO:0002051 False skin disorder integumentary system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0005095 MONDO:0005046 False spondyloarthropathy immune system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0005098 MONDO:0011057 False stroke disorder cerebrovascular disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005099 MONDO:0005560 False subarachnoid hemorrhage brain disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005099 MONDO:0043218 False subarachnoid hemorrhage neurovascular disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005100 MONDO:0005093 False systemic sclerosis skin disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0005101 MONDO:0005292 False ulcerative colitis colitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0005103 MONDO:0005060 False well-differentiated liposarcoma liposarcoma UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005109 MONDO:0021682 False HIV infectious disease viral sexually transmitted disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005109 MONDO:0022034 False HIV infectious disease lentivirus infection UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0005110 MONDO:0004994 False idiopathic cardiomyopathy cardiomyopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005110 MONDO:0700007 False idiopathic cardiomyopathy idiopathic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005111 MONDO:0100329 False Epstein-Barr virus infection primary viral infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005114 MONDO:0021680 False pneumococcal infection streptococcal infection UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005115 MONDO:0017704 False temporal lobe epilepsy familial partial epilepsy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005116 MONDO:0005020 False Whipple disease intestinal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0005116 MONDO:0005113 False Whipple disease bacterial infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0005116 MONDO:0043424 False Whipple disease digestive system infectious disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005118 MONDO:0004805 False human granulocytic ehrlichiosis leukocyte disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0005118 MONDO:0025303 False human granulocytic ehrlichiosis anaplasmosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005119 MONDO:0000314 False anthrax infection primary bacterial infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0005119 MONDO:0006923 False anthrax infection Bacillaceae infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005124 MONDO:0000314 False leprosy primary bacterial infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0005129 MONDO:0003847 False cataract hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0005130 MONDO:0000588 False celiac disease autoimmune disorder of gastrointestinal tract UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0005124 MONDO:0020590 False leprosy mycobacterial infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005130 MONDO:0003847 False celiac disease hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0005130 MONDO:0020598 False celiac disease malabsorption syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005130 MONDO:0024635 False celiac disease small intestine disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005131 MONDO:0005213 False cervical carcinoma uterine carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005132 MONDO:0100329 False cytomegalovirus infection primary viral infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -13881,57 +20483,46 @@ MONDO:0005134 MONDO:0006704 False experimental autoimmune encephalomyelitis CNS MONDO:0005136 MONDO:0044347 False malaria erythrocyte disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005136 MONDO:0100120 False malaria vector-borne disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005137 MONDO:0700096 False nutritional disorder human disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005139 MONDO:0011122 False morbid obesity obesity disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0005141 MONDO:0005113 False Pseudomonas infection bacterial infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005144 MONDO:0004976 False familial amyotrophic lateral sclerosis amyotrophic lateral sclerosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005144 MONDO:0024257 False familial amyotrophic lateral sclerosis hereditary motor neuron disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005145 MONDO:0004976 False sporadic amyotrophic lateral sclerosis amyotrophic lateral sclerosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0005147 MONDO:0000569 False type 1 diabetes mellitus autoimmune disorder of endocrine system UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0005146 MONDO:0005379 False post-traumatic stress disorder neurotic disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0005147 MONDO:0000588 False type 1 diabetes mellitus autoimmune disorder of gastrointestinal tract UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0005149 MONDO:0005044 False pulmonary hypertension hypertensive disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0005150 MONDO:0002175 False age-related macular degeneration degeneration of macula and posterior pole UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0005150 MONDO:0019118 False age-related macular degeneration inherited retinal dystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0005151 MONDO:0700096 False endocrine system disorder human disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005152 MONDO:0003381 False hypopituitarism pituitary gland disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0005154 MONDO:0005151 False liver disorder endocrine system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0005160 MONDO:0005561 False aortic aneurysm aortic disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0005156 MONDO:0021166 False encephalomyelitis inflammatory disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005161 MONDO:0100329 False human papilloma virus infection primary viral infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005164 MONDO:0018078 False fibrosarcoma soft tissue sarcoma UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005172 MONDO:0002081 False skeletal system disorder musculoskeletal system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005173 MONDO:0000611 False actinic keratosis pre-malignant neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0005173 MONDO:0002531 False actinic keratosis skin neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0005180 MONDO:0003847 False Parkinson disease hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0005180 MONDO:0021095 False Parkinson disease parkinsonian disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0005181 MONDO:0009637 False progressive external ophthalmoplegia inborn mitochondrial myopathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0005183 MONDO:0005179 False ovarian cystadenoma ovarian adenoma benign UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0005185 MONDO:0008383 False chronic childhood arthritis rheumatoid arthritis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005187 MONDO:0100329 False human herpesvirus 8 infection primary viral infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005188 MONDO:0043544 False iatrogenic Kaposi's sarcoma nosocomial infection UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005189 MONDO:0011057 False internal carotid artery stenosis cerebrovascular disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005190 MONDO:0002273 False macroglobulinemia plasma protein metabolism disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0005194 MONDO:0100329 False Rotavirus infection primary viral infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005197 MONDO:0002082 False thymus neoplasm endocrine gland neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005197 MONDO:0002334 False thymus neoplasm hematopoietic and lymphoid system neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005200 MONDO:0005021 False viral dilated cardiomyopathy dilated cardiomyopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005200 MONDO:0021674 False viral dilated cardiomyopathy post-viral disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005201 MONDO:0000591 False restrictive cardiomyopathy intrinsic cardiomyopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0005202 MONDO:0005271 False atopic IgE-mediated allergic disorder allergic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005203 MONDO:0021178 False ischemia reperfusion injury injury UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005204 MONDO:8000010 False primary antiphospholipid syndrome antiphospholipid syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005207 MONDO:0005040 False choriocarcinoma germ cell tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0005210 MONDO:0006003 False uterine corpus sarcoma uterine corpus cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0005212 MONDO:0018078 False rhabdomyosarcoma soft tissue sarcoma UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005213 MONDO:0002715 False uterine carcinoma uterine cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005213 MONDO:0004993 False uterine carcinoma carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005217 MONDO:0003847 False familial cardiomyopathy hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005217 MONDO:0004994 False familial cardiomyopathy cardiomyopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005220 MONDO:0005086 False collecting duct carcinoma renal cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0005229 MONDO:0005113 False bacterial infectious disease with sepsis bacterial infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0005227 MONDO:0005550 False abscess infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005230 MONDO:0006617 False cellulitis vesiculobullous skin disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0005230 MONDO:0024295 False cellulitis skin disease caused by bacterial infection UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0005231 MONDO:0006011 False hepatitis C virus infection viral hepatitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0005236 MONDO:0005066 False xanthoma metabolic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005238 MONDO:0020561 False round cell liposarcoma myxoid/round cell liposarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0005242 MONDO:0005113 False empyema bacterial infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005244 MONDO:0019056 False peripheral neuropathy neuromuscular disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0005246 MONDO:0002614 False osteomyelitis bone inflammation disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0005246 MONDO:0003225 False osteomyelitis bone marrow disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0005247 MONDO:0005113 False bacterial urinary tract infection bacterial infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005247 MONDO:0100338 False bacterial urinary tract infection urinary tract infection UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -13939,67 +20530,61 @@ MONDO:0005249 MONDO:0024355 False pneumonia respiratory tract infectious disorde MONDO:0005249 MONDO:0043905 False pneumonia pneumonitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005250 MONDO:0021166 False placental villitis inflammatory disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005250 MONDO:0045013 False placental villitis disorder of extraembryonic membrane UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0005252 MONDO:0005267 False heart failure heart disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005253 MONDO:0005252 False high output heart failure heart failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005262 MONDO:0005560 False central nervous system cyst brain disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005265 MONDO:0003847 False inflammatory bowel disease hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0005265 MONDO:0005046 False inflammatory bowel disease immune system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0005266 MONDO:0005066 False diabetic retinopathy metabolic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0005269 MONDO:0000473 False carotid artery disorder arterial disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0005269 MONDO:0011057 False carotid artery disorder cerebrovascular disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0005275 MONDO:0000270 False lung disorder lower respiratory tract disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0005276 MONDO:0002220 False dental caries tooth hard tissue disease UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0005277 MONDO:0005560 False migraine disorder brain disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0005271 MONDO:0000605 False allergic disease hypersensitivity reaction disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0005277 MONDO:0017181 False migraine disorder hypnic headache UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005279 MONDO:0000473 False pulmonary embolism arterial disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0005277 MONDO:0043218 False migraine disorder neurovascular disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005280 MONDO:0021166 False prostatitis inflammatory disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005283 MONDO:0005071 False retinal disorder nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0005281 MONDO:0002515 False gallbladder disorder hepatobiliary disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0005284 MONDO:0005301 False chronic progressive multiple sclerosis multiple sclerosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005287 MONDO:0005071 False developmental disability nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005288 MONDO:0005020 False intestinal polyp intestinal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005288 MONDO:0005079 False intestinal polyp polyp UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005289 MONDO:0024653 False paranasal sinus neoplasm skull neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005291 MONDO:0006693 False brain aneurysm cerebral arterial disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0005292 MONDO:0002269 False colitis gastroenteritis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0005292 MONDO:0003409 False colitis colonic disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0005292 MONDO:0005265 False colitis inflammatory bowel disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0005293 MONDO:0005172 False flatfoot skeletal system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005295 MONDO:0002277 False intermittent vascular claudication arteriosclerosis disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0005295 MONDO:0005294 False intermittent vascular claudication peripheral vascular disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0005296 MONDO:0005087 False sleep apnea syndrome respiratory system disorder UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0005297 MONDO:0005247 False urethritis bacterial urinary tract infection UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005297 MONDO:0021166 False urethritis inflammatory disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005298 MONDO:0000837 False osteoporosis bone resorption disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0005298 MONDO:0800064 False osteoporosis osteogenesis imperfecta and a reduction of bone mineral density. UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005299 MONDO:0005053 False brain ischemia ischemic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0005301 MONDO:0000568 False multiple sclerosis autoimmune disorder of central nervous system UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0005301 MONDO:0002562 False multiple sclerosis demyelinating disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0005298 MONDO:0800486 False osteoporosis metabolic bone disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005301 MONDO:0005560 False multiple sclerosis brain disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0005301 MONDO:0006704 False multiple sclerosis CNS demyelinating autoimmune disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005304 MONDO:0004868 False biliary tract neoplasm biliary tract disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0005302 MONDO:0007743 False attention deficit hyperactivity disorder, inattentive type attention deficit-hyperactivity disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005304 MONDO:0024477 False biliary tract neoplasm liver and intrahepatic bile duct neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0005306 MONDO:0003937 False ankylosing spondylitis spondylitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0005306 MONDO:0005095 False ankylosing spondylitis spondyloarthropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0005306 MONDO:0008383 False ankylosing spondylitis rheumatoid arthritis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0005306 MONDO:0037847 False ankylosing spondylitis vertebral joint disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005308 MONDO:0003847 False ciliopathy hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0005309 MONDO:0005315 False spinal fracture bone fracture UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005309 MONDO:0037747 False spinal fracture spinal injury UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005310 MONDO:0005479 False atrial flutter atrial tachycardia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005312 MONDO:0024635 False pouchitis small intestine disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0005313 MONDO:0005020 False necrotizing enterocolitis intestinal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0005313 MONDO:0009172 False necrotizing enterocolitis enterocolitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0005315 MONDO:0021178 False bone fracture injury UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005316 MONDO:0006706 False bacterial vaginosis Bifidobacteriales infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0005316 MONDO:0023557 False bacterial vaginosis infective vaginitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005318 MONDO:0004842 False canker sore stomatitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005319 MONDO:0005315 False humerus fracture bone fracture UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005320 MONDO:0005315 False tibia fracture bone fracture UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005321 MONDO:0000766 False Fuchs' endothelial dystrophy corneal endothelial dystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0005321 MONDO:0003847 False Fuchs' endothelial dystrophy hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0005321 MONDO:0020214 False Fuchs' endothelial dystrophy posterior corneal dystrophy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005322 MONDO:0005315 False ulna fracture bone fracture UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005323 MONDO:0005113 False bacterial sexually transmitted disease bacterial infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005323 MONDO:0021681 False bacterial sexually transmitted disease sexually transmitted disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0005324 MONDO:0011786 False seasonal allergic rhinitis allergic rhinitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005325 MONDO:0005315 False radius fracture bone fracture UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005326 MONDO:0005093 False sunburn skin disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005327 MONDO:0005315 False hip fracture bone fracture UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005328 MONDO:0002022 False eye disorder disorder of orbital region UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005328 MONDO:0024458 False eye disorder disorder of visual system UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005333 MONDO:0003240 False hyperthyroxinemia thyroid gland disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0005334 MONDO:0001166 False hereditary nephritis nephritis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005334 MONDO:0100191 False hereditary nephritis inherited kidney disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005335 MONDO:0024634 False colorectal neoplasm large intestine disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -14009,121 +20594,99 @@ MONDO:0005340 MONDO:0004907 False alopecia areata alopecia UNSUPPORTED-MISSING U MONDO:0005341 MONDO:0002529 False skin basal cell carcinoma skin squamous cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0005342 MONDO:0005334 False IgA glomerulonephritis hereditary nephritis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005344 MONDO:0005786 False hepatitis B virus infection Hepadnaviridae infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0005344 MONDO:0006011 False hepatitis B virus infection viral hepatitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0005345 MONDO:0003847 False hypospadias hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0005345 MONDO:0005039 False hypospadias reproductive system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0005345 MONDO:0021147 False hypospadias disorder of development or morphogenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005346 MONDO:0005281 False gallstones gallbladder disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005347 MONDO:0005066 False hypertriglyceridemia metabolic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005349 MONDO:0002467 False otosclerosis inner ear disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0005348 MONDO:0006603 False keloid reactive cutaneous fibrous lesion UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005349 MONDO:0018751 False otosclerosis hereditary otorhinolaryngologic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005349 MONDO:0037940 False otosclerosis inherited auditory system disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005350 MONDO:0005160 False abdominal aortic aneurysm aortic aneurysm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0005352 MONDO:0000592 False conduct disorder specific developmental disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0005354 MONDO:0005231 False chronic hepatitis C virus infection hepatitis C virus infection UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005355 MONDO:0006715 False coronary restenosis coronary stenosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0005356 MONDO:0005010 False coronary vasospasm coronary artery disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0005358 MONDO:0018087 False Dengue hemorrhagic fever viral hemorrhagic fever UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005359 MONDO:0005154 False drug-induced liver injury liver disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005361 MONDO:0018438 False eosinophilic esophagitis eosinophilic gastrointestinal disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005362 MONDO:0002036 False erectile dysfunction penile disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0005362 MONDO:0002134 False erectile dysfunction physiological sexual disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0005363 MONDO:0100191 False inherited focal segmental glomerulosclerosis inherited kidney disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005363 MONDO:0100313 False inherited focal segmental glomerulosclerosis focal segmental glomerulosclerosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005364 MONDO:0001104 False Graves disease toxic diffuse goiter UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0005364 MONDO:0005397 False Graves disease goiter UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0005364 MONDO:0005623 False Graves disease autoimmune thyroid disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0005365 MONDO:0021945 False hearing loss disorder hearing disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005366 MONDO:0005344 False chronic hepatitis B virus infection hepatitis B virus infection UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005367 MONDO:0005530 False heroin dependence opiate dependence UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0005371 MONDO:0005084 False mood disorder mental disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005372 MONDO:0005047 False male infertility infertility disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0005373 MONDO:0005113 False meningococcal infection bacterial infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005375 MONDO:0020641 False nasopharyngeal neoplasm respiratory tract neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005377 MONDO:0002331 False nephrotic syndrome nephrosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0005380 MONDO:0005381 False osteonecrosis bone disorder UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0005377 MONDO:0002254 False nephrotic syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0005381 MONDO:0005172 False bone disorder skeletal system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005382 MONDO:0002185 False bone Paget disease hyperostosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0005382 MONDO:0003847 False bone Paget disease hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0005386 MONDO:0000473 False peripheral arterial disease arterial disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0005382 MONDO:0800486 False bone Paget disease metabolic bone disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0005386 MONDO:0005294 False peripheral arterial disease peripheral vascular disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0005388 MONDO:0004868 False primary biliary cholangitis biliary tract disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0005388 MONDO:0007329 False primary biliary cholangitis cirrhosis, familial UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING -MONDO:0005392 MONDO:0000836 False scoliosis disease of bone structure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0005394 MONDO:0011057 False brain infarction cerebrovascular disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0005396 MONDO:0005160 False thoracic aortic aneurysm aortic aneurysm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0005393 MONDO:0005066 False gout metabolic disease UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0005398 MONDO:0005070 False upper aerodigestive tract neoplasm neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0005399 MONDO:0005385 False venous thromboembolism vascular disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005401 MONDO:0003409 False colonic neoplasm colonic disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005404 MONDO:0003939 False myalgic encephalomeyelitis/chronic fatigue syndrome muscle tissue disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0005404 MONDO:0005071 False myalgic encephalomeyelitis/chronic fatigue syndrome nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0005405 MONDO:0004979 False childhood onset asthma asthma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0005404 MONDO:0021094 False myalgic encephalomeyelitis/chronic fatigue syndrome immunodeficiency disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005406 MONDO:0024575 False gestational diabetes pregnancy disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005412 MONDO:0002866 False duodenal ulcer duodenal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0005416 MONDO:0005178 False osteoarthritis, knee osteoarthritis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005417 MONDO:0005150 False wet macular degeneration age-related macular degeneration UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0005424 MONDO:0019297 False elephantiasis lymphedema UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0005425 MONDO:0005424 False podoconiosis elephantiasis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0005429 MONDO:0024619 False prion disease central nervous system infectious disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005433 MONDO:0005567 False alcohol withdrawal substance withdrawal syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005437 MONDO:0001967 False testicular dysgenesis syndrome gonadal dysgenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005437 MONDO:0002329 False testicular dysgenesis syndrome testicular disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005439 MONDO:0001336 False familial hypercholesterolemia familial hyperlipidemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0005439 MONDO:0037748 False familial hypercholesterolemia hyperlipoproteinemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005440 MONDO:0003578 False embryonal carcinoma extragonadal nonseminomatous germ cell tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0005441 MONDO:0021166 False otitis media inflammatory disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005445 MONDO:0003847 False visceral leishmaniasis hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0005446 MONDO:0024610 False cutaneous leishmaniasis parasitic skin disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005459 MONDO:0000940 False human African trypanosomiasis trypanosomiasis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0005451 MONDO:0005137 False eating disorder nutritional disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0005453 MONDO:0024239 False congenital heart disease congenital anomaly of cardiovascular system UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005459 MONDO:0100120 False human African trypanosomiasis vector-borne disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005463 MONDO:0003803 False aortic valve calcification aortic valve disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0005464 MONDO:0008375 False rhegmatogenous retinal detachment retinal detachment UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005466 MONDO:0003406 False hypersomnia sleep-wake disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005467 MONDO:0100366 False occupation-related stress disorder occupational disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005468 MONDO:0000473 False hypotensive disorder arterial disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005469 MONDO:0005468 False orthostatic hypotension hypotensive disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0005473 MONDO:0006816 False temporomandibular joint disorder arthropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0005477 MONDO:0007263 False ventricular tachycardia cardiac rhythm disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005478 MONDO:0005477 False torsades de pointes ventricular tachycardia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0005479 MONDO:0007263 False atrial tachycardia cardiac rhythm disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005481 MONDO:0005480 False contact dermatitis due to nickel contact dermatitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005485 MONDO:0002039 False psychotic disorder cognitive disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0005483 MONDO:0004907 False chemotherapy-induced alopecia alopecia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005485 MONDO:0005084 False psychotic disorder mental disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005486 MONDO:0003847 False tooth agenesis hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0005486 MONDO:0006999 False tooth agenesis tooth disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0005487 MONDO:0005485 False schizoaffective disorder psychotic disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0005488 MONDO:0000726 False adolescent idiopathic scoliosis idiopathic scoliosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005489 MONDO:0001697 False dyslexia reading disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0005491 MONDO:0004994 False Chagas cardiomyopathy cardiomyopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005491 MONDO:0021669 False Chagas cardiomyopathy post-infectious disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0005492 MONDO:0002406 False urticaria dermatitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0005494 MONDO:0000616 False triple-negative breast carcinoma progesterone-receptor negative breast cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0005494 MONDO:0000618 False triple-negative breast carcinoma Her2-receptor negative breast cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0005494 MONDO:0006513 False triple-negative breast carcinoma estrogen-receptor negative breast cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0005495 MONDO:0005151 False adrenal gland disorder endocrine system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0005496 MONDO:0003059 False bile duct carcinoma bile duct cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0005496 MONDO:0018531 False bile duct carcinoma carcinoma of liver and intrahepatic biliary tract UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005497 MONDO:0005381 False bone development disease bone disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0005497 MONDO:0021147 False bone development disease disorder of development or morphogenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005498 MONDO:0000314 False botulism primary bacterial infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0005498 MONDO:0024388 False botulism Clostridium infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005499 MONDO:0001657 False brain glioma brain cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0005499 MONDO:0100342 False brain glioma malignant glioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0005500 MONDO:0015286 False congenital disorder of glycosylation type I congenital disorder of glycosylation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0005501 MONDO:0015286 False congenital disorder of glycosylation type II congenital disorder of glycosylation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0005502 MONDO:0005763 False dengue disease Flaviviridae infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005502 MONDO:0100120 False dengue disease vector-borne disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005503 MONDO:0005084 False developmental disorder of mental health mental disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005504 MONDO:0000314 False diphtheria primary bacterial infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0005507 MONDO:0002129 False gingival cancer bone cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0005508 MONDO:0019060 False hereditary multiple osteochondromas bone neoplasm UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0005508 MONDO:0015356 False hereditary multiple osteochondromas hereditary neoplastic syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0005508 MONDO:0023603 False hereditary multiple osteochondromas hereditary disorder of connective tissue UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005510 MONDO:0005240 False hydronephrosis kidney disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0005511 MONDO:0015974 False janus kinase-3 deficiency severe combined immunodeficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0005514 MONDO:0003847 False nanophthalmia hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0005514 MONDO:0016764 False nanophthalmia isolated anophthalmia-microphthalmia syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005514 MONDO:0021129 False nanophthalmia microphthalmia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0005515 MONDO:0002516 False oral cavity cancer digestive system cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0005516 MONDO:0005497 False osteochondrodysplasia bone development disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0005517 MONDO:0000376 False pharynx cancer respiratory system cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0005517 MONDO:0002516 False pharynx cancer digestive system cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0005520 MONDO:0000833 False rickets bone remodeling disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0005523 MONDO:0002525 False steroid inherited metabolic disorder inherited lipid metabolism disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0005525 MONDO:0004805 False T-cell leukemia leukocyte disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005525 MONDO:0005402 False T-cell leukemia lymphoid leukemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005526 MONDO:0000314 False tetanus primary bacterial infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0005526 MONDO:0020010 False tetanus infectious disorder of the nervous system UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005526 MONDO:0024388 False tetanus Clostridium infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005528 MONDO:0019052 False inborn vitamin metabolic disorder inborn errors of metabolism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0005528 MONDO:0024298 False inborn vitamin metabolic disorder vitamin deficiency disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005530 MONDO:0005303 False opiate dependence drug dependence UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0005531 MONDO:0005530 False morphine dependence opiate dependence UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0005532 MONDO:0024634 False Crohn's colitis large intestine disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005533 MONDO:0005101 False distal colitis ulcerative colitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005534 MONDO:0000709 False ileocolitis Crohn ileitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS @@ -14133,38 +20696,38 @@ MONDO:0005535 MONDO:0006858 False oral Crohn disease mouth disorder UNSUPPORTED- MONDO:0005537 MONDO:0002269 False perianal Crohn disease gastroenteritis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005537 MONDO:0005011 False perianal Crohn disease Crohn disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005537 MONDO:0024634 False perianal Crohn disease large intestine disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0005538 MONDO:0002519 False proctitis anus disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0005538 MONDO:0005265 False proctitis inflammatory bowel disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0005538 MONDO:0021166 False proctitis inflammatory disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005541 MONDO:0000836 False spondylolysis disease of bone structure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0005541 MONDO:0045002 False spondylolysis vertebral disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0005542 MONDO:0002254 False acute coronary syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005542 MONDO:0020683 False acute coronary syndrome acute disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005542 MONDO:0024644 False acute coronary syndrome myocardial ischemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005543 MONDO:0016264 False autoimmune hepatitis type 1 autoimmune hepatitis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0005545 MONDO:0024313 False staphylococcus aureus infection staphylococcal infection UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005546 MONDO:0024317 False fibromyalgia chronic pain syndrome UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005546 MONDO:0700007 False fibromyalgia idiopathic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005549 MONDO:0005086 False renal cell adenocarcinoma renal cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005550 MONDO:0700096 False infectious disease human disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005554 MONDO:0003900 False rheumatic disorder connective tissue disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0005555 MONDO:0000926 False cycloplegia eye accommodation disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0005552 MONDO:0005328 False ocular vascular disorder eye disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0005552 MONDO:0005385 False ocular vascular disorder vascular disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005557 MONDO:0000226 False calcium metabolic disease mineral metabolism disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005558 MONDO:0002259 False ovarian disorder gonadal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0005563 MONDO:0005617 False nut midline carcinoma undifferentiated carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005565 MONDO:0004992 False blastoma cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0005567 MONDO:0002494 False substance withdrawal syndrome substance-related disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0005568 MONDO:0005385 False cholesterol embolism vascular disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0005567 MONDO:0002254 False substance withdrawal syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0005570 MONDO:0700096 False hematologic disorder human disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005571 MONDO:0003225 False polycythemia bone marrow disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0005572 MONDO:0016541 False polycythemia due to hypoxia acquired secondary polycythemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005574 MONDO:0005559 False tauopathy neurodegenerative disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0005576 MONDO:0002459 False cryoglobulinemia type IV hypersensitivity disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0005576 MONDO:0007179 False cryoglobulinemia autoimmune disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0005578 MONDO:0002614 False arthritic joint disease bone inflammation disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0005578 MONDO:0006816 False arthritic joint disease arthropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0005578 MONDO:0021166 False arthritic joint disease inflammatory disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005579 MONDO:0015653 False epilepsy, idiopathic generalized monogenic epilepsy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005579 MONDO:0700007 False epilepsy, idiopathic generalized idiopathic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0005582 MONDO:0005451 False binge eating disorder eating disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005583 MONDO:0000001 False non-human animal disease disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0005593 MONDO:0005076 False chronic periodontitis periodontitis UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005594 MONDO:0005093 False severe cutaneous adverse reaction skin disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0005607 MONDO:0003781 False chronic bronchitis bronchitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0005607 MONDO:0005002 False chronic bronchitis chronic obstructive pulmonary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005608 MONDO:0100329 False varicella zoster infection primary viral infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0005609 MONDO:0005608 False herpes zoster varicella zoster infection UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005609 MONDO:0006617 False herpes zoster vesiculobullous skin disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0005609 MONDO:0021674 False herpes zoster post-viral disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005609 MONDO:0024294 False herpes zoster skin disorder caused by infection UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -14173,8 +20736,6 @@ MONDO:0005610 MONDO:0005516 False Kashin-Beck disease osteochondrodysplasia UNSU MONDO:0005614 MONDO:0018521 False pancreatic adenosquamous carcinoma squamous cell carcinoma of pancreas UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0005616 MONDO:0027772 False pulmonary mucoepidermoid carcinoma lung colloid adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0005618 MONDO:0005084 False anxiety disorder mental disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005619 MONDO:0000827 False typhoid fever salmonellosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0005620 MONDO:0018634 False cerebral amyloid angiopathy hereditary amyloidosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005621 MONDO:0011057 False vascular brain injury cerebrovascular disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005621 MONDO:0043510 False vascular brain injury brain injury UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005623 MONDO:0000569 False autoimmune thyroid disease autoimmune disorder of endocrine system UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -14182,6 +20743,7 @@ MONDO:0005623 MONDO:0004126 False autoimmune thyroid disease thyroiditis UNSUPPO MONDO:0005624 MONDO:0005623 False atrophic thyroiditis autoimmune thyroid disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005625 MONDO:0005560 False cerebral malaria brain disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0005625 MONDO:0024619 False cerebral malaria central nervous system infectious disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0005629 MONDO:0002428 False Acanthamoeba keratitis protozoa infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005629 MONDO:0021747 False Acanthamoeba keratitis Acanthamoeba infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005629 MONDO:0024315 False Acanthamoeba keratitis parasitic endophthalmitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005630 MONDO:0024913 False actinobacillosis cattle disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -14189,24 +20751,21 @@ MONDO:0005630 MONDO:0024950 False actinobacillosis horse disease UNSUPPORTED-MIS MONDO:0005630 MONDO:0024985 False actinobacillosis sheep disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005630 MONDO:0024990 False actinobacillosis swine disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005630 MONDO:0700059 False actinobacillosis Actinobacillus infectious disease, non-human animal UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005631 MONDO:0000315 False actinomycosis commensal bacterial infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0005631 MONDO:0006921 False actinomycosis Actinomycetales infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005632 MONDO:0005275 False acute chest syndrome lung disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0005632 MONDO:0002254 False acute chest syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0005632 MONDO:0020683 False acute chest syndrome acute disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0005634 MONDO:0001214 False acute hemorrhagic conjunctivitis acute conjunctivitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0005634 MONDO:0043541 False acute hemorrhagic conjunctivitis viral conjunctivitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005638 MONDO:0024417 False agnosia perceptual disorders UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005639 MONDO:0005109 False AIDS related complex HIV infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005640 MONDO:0005560 False akinetic mutism brain disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0005641 MONDO:0025371 False aleutian mink disease Parvoviridae infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005641 MONDO:0100329 False aleutian mink disease primary viral infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005642 MONDO:0002314 False atopic conjunctivitis chronic conjunctivitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0005642 MONDO:0005551 False atopic conjunctivitis eye allergy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005643 MONDO:0005985 False Alphavirus infectious disease Togaviridae infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005644 MONDO:0002428 False amebiasis protozoa infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0005645 MONDO:0005943 False ancylostomiasis Rhabditida infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0005647 MONDO:0005161 False anogenital human papillomavirus infection human papilloma virus infection UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0005647 MONDO:0021682 False anogenital human papillomavirus infection viral sexually transmitted disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005648 MONDO:0020674 False aortic valve insufficiency vascular insufficiency disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005649 MONDO:0002031 False appendicitis cecal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0005649 MONDO:0002269 False appendicitis gastroenteritis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0005649 MONDO:0056798 False appendicitis disorder of appendix UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0005650 MONDO:0100329 False Arenaviridae infectious disease primary viral infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -14216,26 +20775,19 @@ MONDO:0005652 MONDO:0005876 False Arterivirus infectious disease Nidovirales inf MONDO:0005654 MONDO:0005656 False ascariasis Ascaridida infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005655 MONDO:0005656 False ascaridiasis Ascaridida infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005656 MONDO:0005943 False Ascaridida infectious disease Rhabditida infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005657 MONDO:0002312 False aspergillosis opportunistic mycosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0005658 MONDO:0100329 False Astroviridae infectious disease primary viral infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005659 MONDO:0003014 False atrophic rhinitis rhinitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0005660 MONDO:0005896 False Avulavirus infectious disease Paramyxoviridae infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005662 MONDO:0002428 False balantidiasis protozoa infectious disease UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0005662 MONDO:0005704 False balantidiasis Ciliophora infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005662 MONDO:0024270 False balantidiasis parasitic intestinal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005663 MONDO:0005071 False Barre-Lieou syndrome nervous system disorder UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0005664 MONDO:0000314 False bartonellosis primary bacterial infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0005664 MONDO:0006924 False bartonellosis Bartonellaceae infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005665 MONDO:0001835 False Bell's palsy facial paralysis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0005667 MONDO:0002866 False biliary dyskinesia duodenal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0005667 MONDO:0002886 False biliary dyskinesia common bile duct disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0005667 MONDO:0005281 False biliary dyskinesia gallbladder disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0005668 MONDO:0022736 False bird fancier's lung occupational lung disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005669 MONDO:0000253 False black piedra piedra UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005671 MONDO:0005644 False Blastocystis infectious disease amebiasis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005671 MONDO:0024270 False Blastocystis infectious disease parasitic intestinal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005672 MONDO:0000308 False blastomycosis primary systemic mycosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0005674 MONDO:0021054 False bone giant cell tumor bone sarcoma UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0005673 MONDO:0020598 False blind loop syndrome malabsorption syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005675 MONDO:0024985 False border disease sheep disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005676 MONDO:0005156 False borna disease encephalomyelitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0005676 MONDO:0005856 False borna disease Mononegavirales infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -14244,99 +20796,72 @@ MONDO:0005678 MONDO:0024913 False bovine respiratory disease complex cattle dise MONDO:0005678 MONDO:0700104 False bovine respiratory disease complex respiratory system disorder, non-human animal UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005679 MONDO:0024913 False bovine virus diarrhea-mucosal disease cattle disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005679 MONDO:0700203 False bovine virus diarrhea-mucosal disease pestivirus infectious disease, non-human animal UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005680 MONDO:0019362 False Brill-Zinsser disease epidemic louse-borne typhus UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0005683 MONDO:0000314 False brucellosis primary bacterial infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0005684 MONDO:0000341 False bulbar polio paralytic poliomyelitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0005684 MONDO:0005560 False bulbar polio brain disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0005687 MONDO:0100329 False Caliciviridae infectious disease primary viral infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005688 MONDO:0000314 False campylobacteriosis primary bacterial infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0005688 MONDO:0002269 False campylobacteriosis gastroenteritis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0005688 MONDO:0043424 False campylobacteriosis digestive system infectious disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005690 MONDO:0015926 False Caplan syndrome pneumoconiosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0005691 MONDO:0005914 False cardiovirus infectious disease Picornaviridae infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005692 MONDO:0002052 False cat-scratch disease lymphadenitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0005694 MONDO:0002031 False cecal neoplasm cecal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0005695 MONDO:0003346 False central nervous system AIDS arteritis central nervous system vasculitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005695 MONDO:0005109 False central nervous system AIDS arteritis HIV infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005695 MONDO:0024318 False central nervous system AIDS arteritis viral infection of central nervous system UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005696 MONDO:0000368 False central nervous system tuberculosis extrapulmonary tuberculosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0005696 MONDO:0024619 False central nervous system tuberculosis central nervous system infectious disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005697 MONDO:0005989 False cerebral toxoplasmosis toxoplasmosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005698 MONDO:0002256 False cervical incompetence cervix disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0005699 MONDO:0005631 False cervicofacial actinomycosis actinomycosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0005700 MONDO:0005608 False chickenpox varicella zoster infection UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005700 MONDO:0006617 False chickenpox vesiculobullous skin disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0005700 MONDO:0024294 False chickenpox skin disorder caused by infection UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005701 MONDO:0000315 False chlamydia trachomatis infectious disease commensal bacterial infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0005701 MONDO:0021697 False chlamydia trachomatis infectious disease chlamydia infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005704 MONDO:0005550 False Ciliophora infectious disease infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005706 MONDO:0000308 False coccidioidomycosis primary systemic mycosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0005706 MONDO:0005135 False coccidioidomycosis parasitic infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0005708 MONDO:0006009 False Colorado tick fever viral encephalitis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0005708 MONDO:0100120 False Colorado tick fever vector-borne disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005711 MONDO:0005728 False congenital diaphragmatic hernia diaphragm disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0005709 MONDO:0001040 False common cold nasopharyngitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0005711 MONDO:0700223 False congenital diaphragmatic hernia hereditary skeletal muscle disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005712 MONDO:0002320 False congenital nystagmus congenital nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0005712 MONDO:0003847 False congenital nystagmus hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0005712 MONDO:0004843 False congenital nystagmus pathologic nystagmus UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0005714 MONDO:0016511 False congenital syphilis infectious embryofetopathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005715 MONDO:0002320 False congenital toxoplasmosis congenital nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0005715 MONDO:0016511 False congenital toxoplasmosis infectious embryofetopathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005715 MONDO:0024619 False congenital toxoplasmosis central nervous system infectious disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005716 MONDO:0005249 False contagious pleuropneumonia pneumonia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005717 MONDO:0005108 False contagious pustular dermatitis viral infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0005718 MONDO:0005876 False Coronaviridae infectious disease Nidovirales infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005719 MONDO:0005718 False Coronavinae infectious disease Coronaviridae infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005720 MONDO:0100329 False cowpox primary viral infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005721 MONDO:0005747 False coxsackievirus infectious disease enterovirus infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005722 MONDO:0000263 False croup laryngotracheitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0005722 MONDO:0003781 False croup bronchitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0005723 MONDO:0006764 False Cryptococcal meningitis fungal meningitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0005724 MONDO:0002312 False cryptococcosis opportunistic mycosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0005722 MONDO:0004777 False croup acute laryngitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0005723 MONDO:0005724 False Cryptococcal meningitis cryptococcosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0005724 MONDO:0005135 False cryptococcosis parasitic infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0005725 MONDO:0005707 False cyclosporiasis coccidiosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0005728 MONDO:0005087 False diaphragm disorder respiratory system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0005728 MONDO:0020120 False diaphragm disorder skeletal muscle disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005729 MONDO:0004664 False dicrocoeliasis helminthiasis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0005730 MONDO:0700204 False Dictyocaulus infectious disease trichostrongyloidiasis, non-human animal UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005731 MONDO:0005943 False dipetalonemiasis Rhabditida infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005731 MONDO:0016075 False dipetalonemiasis filariasis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0005734 MONDO:0024950 False dourine horse disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005736 MONDO:0006009 False eastern equine encephalitis viral encephalitis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0005737 MONDO:0005762 False Ebola hemorrhagic fever Filoviridae infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005738 MONDO:0042488 False echinococcosis Cestode infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005739 MONDO:0004664 False echinostomiasis helminthiasis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0005740 MONDO:0005747 False Echovirus infectious disease enterovirus infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005742 MONDO:0006032 False emphysematous cholecystitis cystitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0005743 MONDO:0005846 False encephalitozoonosis microsporidiosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0005744 MONDO:0003578 False yolk sac tumor extragonadal nonseminomatous germ cell tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0005745 MONDO:0005871 False Enoplea infectious disease Nematoda infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005746 MONDO:0005943 False enterobiasis Rhabditida infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005747 MONDO:0005914 False enterovirus infectious disease Picornaviridae infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005748 MONDO:0024913 False enzootic pneumonia of calves cattle disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005748 MONDO:0700110 False enzootic pneumonia of calves pneumonia, non-human animal UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005749 MONDO:0005249 False eosinophilic pneumonia pneumonia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0005750 MONDO:0024913 False ephemeral fever cattle disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005751 MONDO:0005108 False epidemic pleurodynia viral infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0005752 MONDO:0005227 False epidural abscess abscess UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005752 MONDO:0006130 False epidural abscess central nervous system neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005752 MONDO:0024619 False epidural abscess central nervous system infectious disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005753 MONDO:0004867 False epiglottitis upper respiratory tract disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0005753 MONDO:0020579 False epiglottitis mucositis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005754 MONDO:0000415 False epilepsy with generalized tonic-clonic seizures adolescence-adult electroclinical syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0005753 MONDO:0020592 False epiglottitis disorder of pharynx UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005754 MONDO:0100030 False epilepsy with generalized tonic-clonic seizures adolescent/adult-onset epilepsy syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005755 MONDO:0700053 False equine infectious anemia viral infectious disease, non-human animal UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005755 MONDO:0700170 False equine infectious anemia equine neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005756 MONDO:0023369 False ethmoid sinusitis disorder of facial skeleton UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005757 MONDO:0002040 False eumycotic mycetoma dermatomycosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0005757 MONDO:0005982 False eumycotic mycetoma tinea infection UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005758 MONDO:0002146 False eunuchism hypogonadism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0005759 MONDO:0004664 False fascioloidiasis helminthiasis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0005761 MONDO:0001812 False filarial elephantiasis parasitic eyelid infestation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0005761 MONDO:0005424 False filarial elephantiasis elephantiasis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0005761 MONDO:0100120 False filarial elephantiasis vector-borne disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005762 MONDO:0005856 False Filoviridae infectious disease Mononegavirales infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005763 MONDO:0100329 False Flaviviridae infectious disease primary viral infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005764 MONDO:0004380 False follicular dendritic cell sarcoma dendritic cell sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0005764 MONDO:0017345 False follicular dendritic cell sarcoma Epstein-Barr virus-associated mesenchymal tumor UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005764 MONDO:0020082 False follicular dendritic cell sarcoma dendritic cell tumor UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005765 MONDO:0024913 False foot and mouth disease cattle disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005765 MONDO:0024990 False foot and mouth disease swine disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -14344,46 +20869,33 @@ MONDO:0005765 MONDO:0700053 False foot and mouth disease viral infectious diseas MONDO:0005766 MONDO:0002041 False fungal lung infectious disease fungal infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005766 MONDO:0005275 False fungal lung infectious disease lung disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005766 MONDO:0024355 False fungal lung infectious disease respiratory tract infectious disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005767 MONDO:0000315 False gas gangrene commensal bacterial infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0005767 MONDO:0005229 False gas gangrene bacterial infectious disease with sepsis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0005767 MONDO:0006617 False gas gangrene vesiculobullous skin disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0005767 MONDO:0023149 False gas gangrene infection due to clostridium perfringens UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005767 MONDO:0024295 False gas gangrene skin disease caused by bacterial infection UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005768 MONDO:0000368 False gastrointestinal tuberculosis extrapulmonary tuberculosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0005768 MONDO:0043424 False gastrointestinal tuberculosis digestive system infectious disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005769 MONDO:0005609 False geniculate herpes zoster herpes zoster UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0005769 MONDO:0005665 False geniculate herpes zoster Bell's palsy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0005769 MONDO:0021666 False geniculate herpes zoster ear infection UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005769 MONDO:0024318 False geniculate herpes zoster viral infection of central nervous system UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005770 MONDO:0004609 False genital herpes herpes simplex infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0005770 MONDO:0021682 False genital herpes viral sexually transmitted disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005770 MONDO:0100330 False genital herpes disease arising from reactivation of latent virus UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005771 MONDO:0001989 False geographic tongue atrophic glossitis UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0005772 MONDO:0002312 False geotrichosis opportunistic mycosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0005773 MONDO:0005071 False Gerstmann syndrome nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0005774 MONDO:0000314 False glanders primary bacterial infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0005774 MONDO:0043953 False glanders burkholderia infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005775 MONDO:0019214 False G6PD deficiency inborn carbohydrate metabolic disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0005777 MONDO:0000314 False granuloma inguinale primary bacterial infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0005777 MONDO:0005323 False granuloma inguinale bacterial sexually transmitted disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005777 MONDO:0030603 False granuloma inguinale Klebsiella infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005778 MONDO:0005994 False haemonchiasis trichostrongyloidiasis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0005779 MONDO:0005721 False hand, foot and mouth disease coxsackievirus infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005779 MONDO:0024294 False hand, foot and mouth disease skin disorder caused by infection UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005780 MONDO:0021641 False hantavirus infectious disease Bunyaviridae infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005783 MONDO:0001370 False hemopericardium pericardial effusion UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0005784 MONDO:0005240 False hantavirus hemorrhagic fever with renal syndrome kidney disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0005784 MONDO:0005780 False hantavirus hemorrhagic fever with renal syndrome hantavirus infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005784 MONDO:0100338 False hantavirus hemorrhagic fever with renal syndrome urinary tract infection UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0005785 MONDO:0005896 False henipavirus infectious disease Paramyxoviridae infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005786 MONDO:0100329 False Hepadnaviridae infectious disease primary viral infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005787 MONDO:0000369 False hepatic tuberculosis abdominal tuberculosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0005787 MONDO:0002251 False hepatic tuberculosis hepatitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0005787 MONDO:0005768 False hepatic tuberculosis gastrointestinal tuberculosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0005787 MONDO:0006743 False hepatic tuberculosis endocrine tuberculosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005788 MONDO:0006011 False hepatitis E virus infection viral hepatitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0005789 MONDO:0006011 False hepatitis D virus infection viral hepatitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0005789 MONDO:0021674 False hepatitis D virus infection post-viral disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005791 MONDO:0005108 False herpangina viral infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0005790 MONDO:0006011 False hepatitis A virus infection viral hepatitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0005792 MONDO:0004609 False herpes simplex virus gingivostomatitis herpes simplex infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005792 MONDO:0004842 False herpes simplex virus gingivostomatitis stomatitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005794 MONDO:0100329 False Herpesviridae infectious disease primary viral infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -14391,237 +20903,174 @@ MONDO:0005796 MONDO:0024571 False HIV enteropathy AIDS-related disorder UNSUPPOR MONDO:0005797 MONDO:0005109 False HIV wasting syndrome HIV infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005797 MONDO:0024571 False HIV wasting syndrome AIDS-related disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005798 MONDO:0005363 False HIV-associated nephropathy inherited focal segmental glomerulosclerosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0005798 MONDO:0024571 False HIV-associated nephropathy AIDS-related disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005800 MONDO:0004785 False hordeolum blepharitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0005800 MONDO:0005545 False hordeolum staphylococcus aureus infection UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005800 MONDO:0024295 False hordeolum skin disease caused by bacterial infection UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005800 MONDO:0043885 False hordeolum eye infectious disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005801 MONDO:0005108 False human T-lymphotropic virus 1 infectious disease viral infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005803 MONDO:0005151 False hyperinsulinemic hypoglycemia endocrine system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0005803 MONDO:0019214 False hyperinsulinemic hypoglycemia inborn carbohydrate metabolic disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0005804 MONDO:0006793 False hyperprolactinemia hyperpituitarism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005805 MONDO:0019147 False hypodermyiasis myiasis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0005807 MONDO:0003783 False idiopathic CD4-positive T-lymphocytopenia lymphopenia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0005807 MONDO:0003780 False idiopathic CD4-positive T-lymphocytopenia T-cell immunodeficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005807 MONDO:0700007 False idiopathic CD4-positive T-lymphocytopenia idiopathic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005808 MONDO:0005701 False inclusion conjunctivitis chlamydia trachomatis infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0005808 MONDO:0006668 False inclusion conjunctivitis bacterial conjunctivitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0005809 MONDO:0700053 False infectious ectromelia viral infectious disease, non-human animal UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0005810 MONDO:0005111 False infectious mononucleosis Epstein-Barr virus infection UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005811 MONDO:0700053 False infectious myxomatosis viral infectious disease, non-human animal UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005812 MONDO:0024352 False influenza viral respiratory tract infection UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005812 MONDO:0100329 False influenza primary viral infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005813 MONDO:0004380 False interdigitating dendritic cell sarcoma dendritic cell sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0005817 MONDO:0001162 False Kluver-Bucy syndrome impulse control disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0005817 MONDO:0002254 False Kluver-Bucy syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0005817 MONDO:0020067 False Kluver-Bucy syndrome infectious encephalitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005819 MONDO:0000368 False laryngeal tuberculosis extrapulmonary tuberculosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0005819 MONDO:0024355 False laryngeal tuberculosis respiratory tract infectious disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005820 MONDO:0005651 False Lassa fever arenavirus hemorrhagic fever UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005820 MONDO:0044750 False Lassa fever lassa virus infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005820 MONDO:0100120 False Lassa fever vector-borne disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005821 MONDO:0005714 False late congenital syphilis congenital syphilis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0005823 MONDO:0000314 False legionellosis primary bacterial infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0005824 MONDO:0005823 False Legionnaires' disease legionellosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0005825 MONDO:0000314 False leptospirosis primary bacterial infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0005824 MONDO:0004652 False Legionnaires' disease bacterial pneumonia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0005825 MONDO:0021839 False leptospirosis spirochaetales infections UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005826 MONDO:0002572 False lipid pneumonia aspiration pneumonitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0005827 MONDO:0005148 False lipoatrophic diabetes type 2 diabetes mellitus UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0005828 MONDO:0000314 False listeriosis primary bacterial infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0005828 MONDO:0100120 False listeriosis vector-borne disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005829 MONDO:0024985 False louping ill sheep disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005829 MONDO:0700053 False louping ill viral infectious disease, non-human animal UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005830 MONDO:0005108 False lumpy skin disease viral infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005831 MONDO:0000368 False lymph node tuberculosis extrapulmonary tuberculosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0005831 MONDO:0004928 False lymph node tuberculosis lymph node disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0005832 MONDO:0005833 False lymphangitis lymphatic system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0005832 MONDO:0018882 False lymphangitis vasculitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0005833 MONDO:0044986 False lymphatic system disorder lymphoid system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005834 MONDO:0005701 False lymphogranuloma venereum chlamydia trachomatis infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0005834 MONDO:0005777 False lymphogranuloma venereum granuloma inguinale UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0005834 MONDO:0005833 False lymphogranuloma venereum lymphatic system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0005835 MONDO:0000426 False Lynch syndrome autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0005837 MONDO:0002131 False mandibular cancer jaw cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0005841 MONDO:0021580 False maxillary neoplasm neoplasm of jaw UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005842 MONDO:0006858 False maxillary sinusitis mouth disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0005842 MONDO:0023369 False maxillary sinusitis disorder of facial skeleton UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005844 MONDO:0004917 False chalazion internal hordeolum UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0005845 MONDO:0019956 False meningoencephalitis encephalitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0005846 MONDO:0002312 False microsporidiosis opportunistic mycosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0005846 MONDO:0005135 False microsporidiosis parasitic infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0005847 MONDO:0005275 False middle lobe syndrome lung disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0005848 MONDO:0000368 False miliary tuberculosis extrapulmonary tuberculosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0005850 MONDO:0005108 False milker's nodule viral infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0005851 MONDO:0000568 False Miller Fisher syndrome autoimmune disorder of central nervous system UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0005851 MONDO:0002254 False Miller Fisher syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0005851 MONDO:0002427 False Miller Fisher syndrome cerebellar disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0005852 MONDO:0003767 False mitral valve stenosis mitral valve disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0005854 MONDO:0016663 False mixed connective tissue disease overlapping connective tissue disease UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005855 MONDO:0005108 False molluscum contagiosum viral infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0005854 MONDO:0005554 False mixed connective tissue disease rheumatic disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0005856 MONDO:0100329 False Mononegavirales infectious disease primary viral infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005857 MONDO:0005896 False morbillivirus infectious disease Paramyxoviridae infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005861 MONDO:0041806 False multidrug-resistant tuberculosis drug-resistant tuberculosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005864 MONDO:0000637 False muscle cancer musculoskeletal system cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0005865 MONDO:0017853 False mushroom workers' lung hypersensitivity pneumonitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0005866 MONDO:0000314 False mycobacterium avium complex disease primary bacterial infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0005866 MONDO:0020590 False mycobacterium avium complex disease mycobacterial infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005866 MONDO:0100120 False mycobacterium avium complex disease vector-borne disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005868 MONDO:0012197 False myelophthisic anemia idiopathic aplastic anemia UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005871 MONDO:0004664 False Nematoda infectious disease helminthiasis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005873 MONDO:0005657 False neuroaspergillosis aspergillosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0005874 MONDO:0015254 False neuroschistosomiasis schistosomiasis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0005874 MONDO:0024619 False neuroschistosomiasis central nervous system infectious disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005876 MONDO:0100329 False Nidovirales infectious disease primary viral infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0005878 MONDO:0017137 False ocular onchocerciasis onchocerciasis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005878 MONDO:0020947 False ocular onchocerciasis parasitic eye infection UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005879 MONDO:0005989 False ocular toxoplasmosis toxoplasmosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005879 MONDO:0020947 False ocular toxoplasmosis parasitic eye infection UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005880 MONDO:0005943 False oesophagostomiasis Rhabditida infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005881 MONDO:0005917 False oligohydramnios placenta disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0005883 MONDO:0003543 False ophthalmic herpes zoster trigeminal nerve disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005883 MONDO:0005609 False ophthalmic herpes zoster herpes zoster UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005883 MONDO:0020010 False ophthalmic herpes zoster infectious disorder of the nervous system UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005885 MONDO:0005156 False optic neuritis encephalomyelitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0005885 MONDO:0005328 False optic neuritis eye disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0005886 MONDO:0006858 False oral candidiasis mouth disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0005887 MONDO:0005768 False oral tuberculosis gastrointestinal tuberculosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0005887 MONDO:0006858 False oral tuberculosis mouth disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0005887 MONDO:0021166 False oral tuberculosis inflammatory disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005888 MONDO:0000314 False ornithosis primary bacterial infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0005890 MONDO:0000837 False osteitis fibrosa bone resorption disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0005891 MONDO:0005994 False ostertagiasis trichostrongyloidiasis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0005892 MONDO:0021206 False otitis media with effusion chronic non-suppurative otitis media UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005894 MONDO:0000308 False paracoccidioidomycosis primary systemic mycosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0005896 MONDO:0005856 False Paramyxoviridae infectious disease Mononegavirales infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005898 MONDO:0002884 False paronychia nail disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0005898 MONDO:0005093 False paronychia skin disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0005899 MONDO:0001142 False parotid disorder salivary gland disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0005900 MONDO:0005899 False parotitis parotid disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0005900 MONDO:0021166 False parotitis inflammatory disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005901 MONDO:0005113 False pasteurellosis bacterial infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0005903 MONDO:0000368 False pericardial tuberculosis extrapulmonary tuberculosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0005903 MONDO:0005904 False pericardial tuberculosis pericarditis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0005904 MONDO:0000474 False pericarditis pericardium disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0005904 MONDO:0021166 False pericarditis inflammatory disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005906 MONDO:0005113 False peritonsillar abscess bacterial infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0005906 MONDO:0005227 False peritonsillar abscess abscess UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005906 MONDO:0020592 False peritonsillar abscess disorder of pharynx UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005906 MONDO:0044986 False peritonsillar abscess lymphoid system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005907 MONDO:0002254 False persian gulf syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0005908 MONDO:0024913 False peste des petits ruminants infectious disease cattle disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005908 MONDO:0024985 False peste des petits ruminants infectious disease sheep disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005908 MONDO:0024990 False peste des petits ruminants infectious disease swine disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005908 MONDO:0025003 False peste des petits ruminants infectious disease goat disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005908 MONDO:0700053 False peste des petits ruminants infectious disease viral infectious disease, non-human animal UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005909 MONDO:0005763 False pestivirus infectious disease Flaviviridae infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005910 MONDO:0003778 False phagocyte bactericidal dysfunction inborn error of immunity UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0005910 MONDO:0004805 False phagocyte bactericidal dysfunction leukocyte disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0005910 MONDO:0024627 False phagocyte bactericidal dysfunction phagocytic cell dysfunction UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005912 MONDO:0002491 False phencyclidine abuse substance abuse UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0005912 MONDO:0005303 False phencyclidine abuse drug dependence UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0005913 MONDO:0100120 False phlebotomus fever vector-borne disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005913 MONDO:0100329 False phlebotomus fever primary viral infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005914 MONDO:0100329 False Picornaviridae infectious disease primary viral infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005915 MONDO:0005982 False pityriasis versicolor tinea infection UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005915 MONDO:0006547 False pityriasis versicolor exanthem UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0005915 MONDO:0024268 False pityriasis versicolor superficial mycosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0005917 MONDO:0002654 False placenta disorder uterine disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0005919 MONDO:0005917 False placental insufficiency placenta disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0005922 MONDO:0000368 False pleural tuberculosis extrapulmonary tuberculosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0005917 MONDO:0024575 False placenta disorder pregnancy disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0005922 MONDO:0000986 False pleural tuberculosis pleurisy UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0005922 MONDO:0024355 False pleural tuberculosis respiratory tract infectious disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005923 MONDO:0002041 False Pneumocystis infectious disease fungal infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005925 MONDO:0005113 False pneumonic pasteurellosis bacterial infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005927 MONDO:0100329 False polyomavirus infectious disease primary viral infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005928 MONDO:0000945 False post-thrombotic syndrome venous insufficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0005932 MONDO:0005108 False pseudorabies viral infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005933 MONDO:0005565 False pulmonary blastoma blastoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0005936 MONDO:0005249 False recurrent pneumonia pneumonia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005938 MONDO:0000369 False renal tuberculosis abdominal tuberculosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0005938 MONDO:0005240 False renal tuberculosis kidney disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0005938 MONDO:0005247 False renal tuberculosis bacterial urinary tract infection UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005938 MONDO:0006002 False renal tuberculosis urogenital tuberculosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0005939 MONDO:0005108 False Reoviridae infectious disease viral infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005940 MONDO:0005896 False respirovirus infectious disease Paramyxoviridae infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005942 MONDO:0005554 False Reye syndrome rheumatic disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0005942 MONDO:0005560 False Reye syndrome brain disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0005943 MONDO:0005871 False Rhabditida infectious disease Nematoda infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005944 MONDO:0005856 False Rhabdoviridae infectious disease Mononegavirales infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005945 MONDO:0000314 False rhinoscleroma primary bacterial infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0005945 MONDO:0030603 False rhinoscleroma Klebsiella infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005946 MONDO:0000307 False rhinosporidiosis parasitic Ichthyosporea infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0005947 MONDO:0006927 False rickettsial pneumonia Rickettsiaceae infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005947 MONDO:0041850 False rickettsial pneumonia pneumonia caused by gram negative bacteria UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005949 MONDO:0100329 False roseolovirus infectious disease primary viral infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005950 MONDO:0000827 False Salmonella gastroenteritis salmonellosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005950 MONDO:0002269 False Salmonella gastroenteritis gastroenteritis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005950 MONDO:0043424 False Salmonella gastroenteritis digestive system infectious disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0005952 MONDO:0021680 False scarlet fever streptococcal infection UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005953 MONDO:0021581 False scirrhous adenocarcinoma connective tissue neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005954 MONDO:0019147 False screw worm infectious disease myiasis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0005956 MONDO:0005570 False septicemic plague hematologic disorder UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0005957 MONDO:0005943 False setariasis Rhabditida infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005957 MONDO:0016075 False setariasis filariasis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0005959 MONDO:0017853 False sick building syndrome hypersensitivity pneumonitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0005962 MONDO:0000368 False skeletal tuberculosis extrapulmonary tuberculosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0005961 MONDO:0021166 False sinusitis inflammatory disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005962 MONDO:0005172 False skeletal tuberculosis skeletal system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005963 MONDO:0042488 False sparganosis Cestode infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005964 MONDO:0023369 False sphenoid sinusitis disorder of facial skeleton UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005965 MONDO:0000812 False spinal stenosis vertebral column disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0005965 MONDO:0000836 False spinal stenosis disease of bone structure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0005966 MONDO:0000612 False spleen cancer lymphatic system cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0005967 MONDO:0000369 False splenic tuberculosis abdominal tuberculosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0005967 MONDO:0002332 False splenic tuberculosis splenic disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0005969 MONDO:0005763 False st. Louis encephalitis Flaviviridae infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005969 MONDO:0020601 False st. Louis encephalitis mosquito-borne viral encephalitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005970 MONDO:0004652 False staphylococcal pneumonia bacterial pneumonia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005970 MONDO:0024313 False staphylococcal pneumonia staphylococcal infection UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005971 MONDO:0000314 False staphyloenterotoxemia primary bacterial infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0005972 MONDO:0004652 False streptococcal pneumonia bacterial pneumonia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0005971 MONDO:0024313 False staphyloenterotoxemia staphylococcal infection UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005972 MONDO:0005114 False streptococcal pneumonia pneumococcal infection UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005973 MONDO:0005135 False Strongylida infectious disease parasitic infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005974 MONDO:0005943 False strongyloidiasis Rhabditida infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005975 MONDO:0005441 False suppurative otitis media otitis media UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0005976 MONDO:0000314 False syphilis primary bacterial infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0005976 MONDO:0007000 False syphilis Treponema infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005977 MONDO:0020010 False tabes dorsalis infectious disorder of the nervous system UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005978 MONDO:0002428 False theileriasis protozoa infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0005979 MONDO:0005385 False thoracic outlet syndrome vascular disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0005980 MONDO:0002875 False tick infestation parasitic ectoparasitic infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0005981 MONDO:0005980 False tick paralysis tick infestation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0005979 MONDO:0002254 False thoracic outlet syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0005981 MONDO:0020010 False tick paralysis infectious disorder of the nervous system UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005982 MONDO:0000254 False tinea infection cutaneous mycosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0005982 MONDO:0021201 False tinea infection skin infection UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005983 MONDO:0005982 False tinea favosa tinea infection UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005985 MONDO:0100329 False Togaviridae infectious disease primary viral infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005986 MONDO:0005876 False torovirus infectious disease Nidovirales infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005987 MONDO:0005656 False toxascariasis Ascaridida infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005988 MONDO:0005656 False toxocariasis Ascaridida infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005989 MONDO:0005707 False toxoplasmosis coccidiosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0005990 MONDO:0005113 False tracheitis bacterial infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0005990 MONDO:0020579 False tracheitis mucositis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005990 MONDO:0021925 False tracheitis tracheobronchitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005990 MONDO:0024355 False tracheitis respiratory tract infectious disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005991 MONDO:0005664 False trench fever bartonellosis UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0005991 MONDO:0100120 False trench fever vector-borne disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005993 MONDO:0100338 False Trichomonas vaginitis urogenital infection urinary tract infection UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0005994 MONDO:0004664 False trichostrongyloidiasis helminthiasis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0005995 MONDO:0005943 False trichostrongylosis Rhabditida infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005995 MONDO:0005994 False trichostrongylosis trichostrongyloidiasis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0005996 MONDO:0005745 False trichuriasis Enoplea infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005997 MONDO:0000471 False tricuspid valve stenosis tricuspid valve disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0005997 MONDO:0005561 False tricuspid valve stenosis aortic disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0005998 MONDO:0004389 False trombiculiasis mite infestation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0005999 MONDO:0005242 False tuberculous empyema empyema UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005999 MONDO:0005922 False tuberculous empyema pleural tuberculosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0005999 MONDO:0018667 False tuberculous empyema pleural empyema UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0006000 MONDO:0000369 False tuberculous peritonitis abdominal tuberculosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0006000 MONDO:0004522 False tuberculous peritonitis peritonitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0006000 MONDO:0005768 False tuberculous peritonitis gastrointestinal tuberculosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0006001 MONDO:0006026 False urinary schistosomiasis urinary bladder disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0006001 MONDO:0100338 False urinary schistosomiasis urinary tract infection UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0006002 MONDO:0000368 False urogenital tuberculosis extrapulmonary tuberculosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0006004 MONDO:0011786 False vasomotor rhinitis allergic rhinitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0006005 MONDO:0005156 False Venezuelan equine encephalitis encephalomyelitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0006005 MONDO:0005643 False Venezuelan equine encephalitis Alphavirus infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006005 MONDO:0018087 False Venezuelan equine encephalitis viral hemorrhagic fever UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006005 MONDO:0024318 False Venezuelan equine encephalitis viral infection of central nervous system UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006005 MONDO:0100120 False Venezuelan equine encephalitis vector-borne disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006007 MONDO:0001926 False vesicoureteral reflux ureteral disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0006007 MONDO:0006026 False vesicoureteral reflux urinary bladder disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0006008 MONDO:0001563 False vestibular neuronitis vestibulocochlear nerve disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0006008 MONDO:0002122 False vestibular neuronitis neuritis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0006009 MONDO:0020067 False viral encephalitis infectious encephalitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006009 MONDO:0024318 False viral encephalitis viral infection of central nervous system UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006009 MONDO:0100329 False viral encephalitis primary viral infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006010 MONDO:0024934 False salmonid viral hemorrhagic septicemia fish disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006010 MONDO:0700072 False salmonid viral hemorrhagic septicemia Rhabdoviridae infectious disease, non-human animal UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006011 MONDO:0043424 False viral hepatitis digestive system infectious disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006011 MONDO:0100329 False viral hepatitis primary viral infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006012 MONDO:0005249 False viral pneumonia pneumonia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0006012 MONDO:0024352 False viral pneumonia viral respiratory tract infection UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006012 MONDO:0100329 False viral pneumonia primary viral infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006013 MONDO:0024985 False visna disease sheep disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -14629,32 +21078,31 @@ MONDO:0006013 MONDO:0700049 False visna disease infectious disease, non-human an MONDO:0006014 MONDO:0000879 False vulvovaginal candidiasis cutaneous candidiasis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0006014 MONDO:0007019 False vulvovaginal candidiasis vulvovaginitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0006014 MONDO:0023557 False vulvovaginal candidiasis infective vaginitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006015 MONDO:0019801 False Waterhouse-Friderichsen syndrome acute adrenal insufficiency UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006018 MONDO:0002254 False Wissler syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0006015 MONDO:0002254 False Waterhouse-Friderichsen syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0006018 MONDO:0005554 False Wissler syndrome rheumatic disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0006019 MONDO:0005976 False yaws syphilis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0006021 MONDO:0005356 False Prinzmetal angina coronary vasospasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0006022 MONDO:0041261 False acidosis disorder disorder of acid-base balance UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006025 MONDO:0000429 False autosomal recessive disease autosomal genetic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0006031 MONDO:0005961 False chronic rhinosinusitis sinusitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006032 MONDO:0021166 False cystitis inflammatory disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006033 MONDO:0003869 False diffuse intrinsic pontine glioma childhood brain stem glioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006034 MONDO:0006230 False gastric adenosquamous carcinoma gastric squamous cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0006036 MONDO:0002082 False granulosa cell tumor endocrine gland neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006037 MONDO:0006025 False hydrolethalus syndrome autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0006038 MONDO:0005292 False indeterminate colitis colitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006039 MONDO:0005292 False infectious colitis colitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006039 MONDO:0043424 False infectious colitis digestive system infectious disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006040 MONDO:0005066 False lactic acidosis metabolic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006042 MONDO:0000271 False meningeal tuberculosis tuberculous salpingitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006042 MONDO:0005696 False meningeal tuberculosis central nervous system tuberculosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006042 MONDO:0006670 False meningeal tuberculosis bacterial meningitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006044 MONDO:0002286 False nephrosclerosis renal artery disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0006056 MONDO:0006043 False squamous cell breast carcinoma metaplastic breast carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0006065 MONDO:0100345 False lactose intolerance adult type lactose intolerance UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006068 MONDO:0045058 False ACTH-producing pituitary gland adenoma ACTH-producing pituitary gland neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006069 MONDO:0045058 False ACTH-producing pituitary gland carcinoma ACTH-producing pituitary gland neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006071 MONDO:0000624 False adenofibroma benign female reproductive system neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0006071 MONDO:0005167 False adenofibroma fibroma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0006074 MONDO:0005096 False adenosquamous carcinoma squamous cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0006075 MONDO:0021511 False adrenal gland myelolipoma benign neoplasm of adrenal gland UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006076 MONDO:0000551 False adrenal gland neuroblastoma retroperitoneal neuroblastoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0006077 MONDO:0005043 False adrenal medullary hyperplasia hyperplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006077 MONDO:0005495 False adrenal medullary hyperplasia adrenal gland disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006078 MONDO:0017341 False AIDS-related primary central nervous system lymphoma virus associated tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006079 MONDO:0002415 False ameloblastic carcinoma bone carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -14665,6 +21113,7 @@ MONDO:0006086 MONDO:0021581 False angiomyxoma connective tissue neoplasm UNSUPPO MONDO:0006087 MONDO:0006028 False appendix adenocarcinoma cecum adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0006088 MONDO:0000527 False appendix adenoma colon adenoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006088 MONDO:0018511 False appendix adenoma epithelial tumor of the appendix UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006090 MONDO:0006249 False appendix hyperplastic polyp hyperplastic polyp UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006090 MONDO:0021392 False appendix hyperplastic polyp polyp of large intestine UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006090 MONDO:0056798 False appendix hyperplastic polyp disorder of appendix UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006091 MONDO:0006126 False appendix neuroendocrine tumor G1 cecum neuroendocrine tumor G1 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -14673,7 +21122,10 @@ MONDO:0006094 MONDO:0003274 False Askin tumor thoracic cancer UNSUPPORTED-MISSIN MONDO:0006096 MONDO:0000931 False atypical endometrial hyperplasia endometrial disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006096 MONDO:0005043 False atypical endometrial hyperplasia hyperplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006098 MONDO:0000653 False atypical lobular breast hyperplasia integumentary system cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006103 MONDO:0021468 False benign adrenal gland pheochromocytoma benign neoplasm of adrenal medulla UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006103 MONDO:0036976 False benign adrenal gland pheochromocytoma benign epithelial neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006103 MONDO:0056804 False benign adrenal gland pheochromocytoma benign neoplasm of peripheral nervous system UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006104 MONDO:0000627 False benign carotid body paraganglioma benign endocrine neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006104 MONDO:0024286 False benign carotid body paraganglioma benign blood vessel neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006104 MONDO:0056804 False benign carotid body paraganglioma benign neoplasm of peripheral nervous system UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006107 MONDO:0000627 False benign thyroid gland neoplasm benign endocrine neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -14682,56 +21134,69 @@ MONDO:0006117 MONDO:0000653 False breast diffuse large B-cell lymphoma integumen MONDO:0006118 MONDO:0002051 False breast fibrosis integumentary system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0006118 MONDO:0021100 False breast fibrosis breast neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006119 MONDO:0000653 False breast mucosa-associated lymphoid tissue lymphoma integumentary system cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006120 MONDO:0003240 False C-cell hyperplasia thyroid gland disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006120 MONDO:0005043 False C-cell hyperplasia hyperplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006122 MONDO:0002691 False calcifying nested epithelial stromal tumor of the liver liver cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006132 MONDO:0002951 False cervical adenoid basal carcinoma skin adenoid basal cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0006132 MONDO:0006143 False cervical adenoid basal carcinoma cervical squamous cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0006133 MONDO:0005153 False cervical adenoid cystic carcinoma cervical adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0006134 MONDO:0005153 False cervical adenosquamous carcinoma cervical adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0006134 MONDO:0006143 False cervical adenosquamous carcinoma cervical squamous cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0006139 MONDO:0002256 False cervical metaplasia cervix disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006141 MONDO:0002742 False cervical villoglandular adenocarcinoma cervical mucinous adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0006146 MONDO:0006499 False chondroid hamartoma hamartoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006150 MONDO:0000621 False colon Burkitt lymphoma immune system cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006150 MONDO:0023113 False colon Burkitt lymphoma familial colorectal cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006151 MONDO:0003409 False colon dysplasia colonic disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006152 MONDO:0005401 False colon inflammatory polyp colonic neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006152 MONDO:0021400 False colon inflammatory polyp polyp of colon UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006153 MONDO:0005401 False colon juvenile polyp colonic neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006153 MONDO:0006161 False colon juvenile polyp colorectal juvenile polyp UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006153 MONDO:0021400 False colon juvenile polyp polyp of colon UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006157 MONDO:0006165 False colorectal adenosquamous carcinoma colorectal squamous cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006158 MONDO:0000621 False colorectal diffuse large B-cell lymphoma immune system cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006160 MONDO:0005335 False colorectal hamartoma colorectal neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006160 MONDO:0006231 False colorectal hamartoma gastrointestinal hamartoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006160 MONDO:0021392 False colorectal hamartoma polyp of large intestine UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006161 MONDO:0006160 False colorectal juvenile polyp colorectal hamartoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006161 MONDO:0006258 False colorectal juvenile polyp juvenile polyp UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006169 MONDO:0005043 False complex endometrial hyperplasia hyperplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006170 MONDO:0000462 False conjunctival disorder eye adnexa disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006173 MONDO:0010150 False conjunctival squamous cell carcinoma head and neck squamous cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0006188 MONDO:0004805 False EBV-positive T-cell lymphoproliferative disorder of childhood leukocyte disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006193 MONDO:0005043 False endometrial hyperplasia without atypia hyperplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006195 MONDO:0000931 False endometrial polyp endometrial disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006202 MONDO:0003549 False extrahepatic bile duct adenosquamous carcinoma adenosquamous bile duct carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006202 MONDO:0006203 False extrahepatic bile duct adenosquamous carcinoma extrahepatic bile duct squamous cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006203 MONDO:0003500 False extrahepatic bile duct squamous cell carcinoma squamous cell bile duct carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006207 MONDO:0006206 False fallopian tube carcinosarcoma fallopian tube carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0006209 MONDO:0021581 False fibroblastic neoplasm connective tissue neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006211 MONDO:0024478 False fibrous hamartoma of infancy mesenchymal hamartoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006212 MONDO:0024483 False flat urothelial hyperplasia urothelial hyperplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006217 MONDO:0006220 False gallbladder adenosquamous carcinoma gallbladder squamous cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0006224 MONDO:0006231 False gastric hamartomatous polyp gastrointestinal hamartoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006224 MONDO:0021085 False gastric hamartomatous polyp gastric neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006225 MONDO:0000621 False gastric mantle cell lymphoma immune system cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006225 MONDO:0042493 False gastric mantle cell lymphoma gastric non-hodgkin lymphoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006226 MONDO:0018502 False gastric mucosa-associated lymphoid tissue lymphoma hereditary gastric cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006231 MONDO:0006499 False gastrointestinal hamartoma hamartoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006231 MONDO:0021223 False gastrointestinal hamartoma digestive system neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006231 MONDO:0024292 False gastrointestinal hamartoma gastrointestinal polyp UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006232 MONDO:0002402 False giant cell tumor of soft tissue malignant giant cell tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006232 MONDO:0005089 False giant cell tumor of soft tissue sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006234 MONDO:0005159 False grade III prostatic intraepithelial neoplasia prostate carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0006238 MONDO:0019927 False growth hormone-producing pituitary gland adenoma growth hormone-producing pituitary gland neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006241 MONDO:0024477 False hepatic granuloma liver and intrahepatic bile duct neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006247 MONDO:0015757 False histiocytic and dendritic cell neoplasm lymphoid hemopathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006248 MONDO:0002872 False hydatidiform mole trophoblastic neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006248 MONDO:0003847 False hydatidiform mole hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006248 MONDO:0021218 False hydatidiform mole placenta neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006249 MONDO:0005079 False hyperplastic polyp polyp UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006250 MONDO:0006155 False ileal neuroendocrine tumor G1 colon neuroendocrine tumor G1 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006257 MONDO:0006155 False jejunal neuroendocrine tumor G1 colon neuroendocrine tumor G1 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006260 MONDO:0005086 False kidney medullary carcinoma renal cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006262 MONDO:0002475 False lacrimal gland adenoid cystic carcinoma lacrimal gland adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0006258 MONDO:0006231 False juvenile polyp gastrointestinal hamartoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006268 MONDO:0000621 False liver diffuse large B-cell lymphoma immune system cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006268 MONDO:0007256 False liver diffuse large B-cell lymphoma hepatocellular carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006276 MONDO:0005138 False lung inflammatory myofibroblastic tumor lung carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006279 MONDO:0003050 False lung sarcomatoid carcinoma lung large cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0006280 MONDO:0003194 False lung sclerosing hemangioma hemangioma of lung UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0006281 MONDO:0005061 False lung signet ring cell carcinoma lung adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0006281 MONDO:0005092 False lung signet ring cell carcinoma signet ring cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0006282 MONDO:0004993 False lymphangiosarcoma carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0006282 MONDO:0005089 False lymphangiosarcoma sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS @@ -14745,11 +21210,15 @@ MONDO:0006291 MONDO:0002714 False malignant jugulotympanic paraganglioma central MONDO:0006291 MONDO:0004634 False malignant jugulotympanic paraganglioma vein disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006291 MONDO:0024499 False malignant jugulotympanic paraganglioma vascular bone neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006291 MONDO:0043218 False malignant jugulotympanic paraganglioma neurovascular disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006292 MONDO:0005065 False malignant mesothelioma mesothelioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006294 MONDO:0000376 False pleural cancer respiratory system cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0006306 MONDO:0005853 False mixed lobular and ductal breast carcinoma malignant mixed neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006311 MONDO:0020076 False myelodysplastic/myeloproliferative neoplasm myeloproliferative neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0006312 MONDO:0001572 False myofibroma leiomyoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0006313 MONDO:0021230 False nabothian cyst uterine cervix neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006314 MONDO:0002232 False nasal cavity polyp nasal cavity disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006314 MONDO:0005079 False nasal cavity polyp polyp UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006322 MONDO:0002887 False non-neoplastic bile duct disorder bile duct disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006322 MONDO:0005151 False non-neoplastic bile duct disorder endocrine system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006328 MONDO:0005070 False odontogenic cyst neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006329 MONDO:0003142 False olfactory neuroblastoma intracranial primitive neuroectodermal tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS @@ -14759,13 +21228,18 @@ MONDO:0006353 MONDO:0000382 False paranasal sinus Schneiderian papilloma respira MONDO:0006353 MONDO:0000631 False paranasal sinus Schneiderian papilloma bone benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006353 MONDO:0000633 False paranasal sinus Schneiderian papilloma sensory organ benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006354 MONDO:0001223 False parathyroid hyperplasia parathyroid gland disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006354 MONDO:0005043 False parathyroid hyperplasia hyperplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006361 MONDO:0006895 False penile fibromatosis penile neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006362 MONDO:0005065 False peritoneal mesothelioma mesothelioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006365 MONDO:0006231 False Peutz-Jeghers polyp gastrointestinal hamartoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006366 MONDO:0006224 False Peutz-Jeghers polyp of the stomach gastric hamartomatous polyp UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006366 MONDO:0006365 False Peutz-Jeghers polyp of the stomach Peutz-Jeghers polyp UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006372 MONDO:0002109 False pituicytoma pituitary cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0006372 MONDO:0003169 False pituicytoma diencephalic astrocytomas UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0006372 MONDO:0016685 False pituicytoma low-grade astrocytoma UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006386 MONDO:0003195 False primary peritoneal serous adenocarcinoma peritoneal serous adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006387 MONDO:0000621 False primary pulmonary diffuse large B-cell lymphoma immune system cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006388 MONDO:0003430 False prolactin-producing pituitary gland carcinoma prolactin producing pituitary tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006392 MONDO:0021398 False rectal hyperplastic polyp polyp of rectum UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006401 MONDO:0044740 False salivary gland adenosquamous carcinoma salivary gland squamous cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006402 MONDO:0005341 False salivary gland basal cell adenocarcinoma skin basal cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006402 MONDO:0044740 False salivary gland basal cell adenocarcinoma salivary gland squamous cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -14773,7 +21247,6 @@ MONDO:0006404 MONDO:0005617 False salivary gland large cell carcinoma undifferen MONDO:0006405 MONDO:0024503 False salivary gland small cell carcinoma digestive system neuroendocrine neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006406 MONDO:0020663 False sarcomatoid carcinoma malignant spindle cell neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006410 MONDO:0005043 False simple endometrial hyperplasia hyperplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006412 MONDO:0015531 False sinus histiocytosis with massive lymphadenopathy non-Langerhans cell histiocytosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006416 MONDO:0000621 False small intestinal Burkitt lymphoma immune system cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006417 MONDO:0000621 False small intestinal diffuse large B-cell lymphoma immune system cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006418 MONDO:0000621 False small intestinal enteropathy-associated T-cell lymphoma immune system cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -14782,16 +21255,18 @@ MONDO:0006419 MONDO:0005335 False small intestinal intraepithelial neoplasia col MONDO:0006427 MONDO:0020664 False spindle cell melanoma spindle cell neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006438 MONDO:0002081 False synovial chondromatosis musculoskeletal system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006442 MONDO:0024876 False tendon sheath fibroma tendon sheath disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006446 MONDO:0005564 False testicular embryonal carcinoma embryonal neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0006450 MONDO:0020076 False therapy-related myeloid neoplasm myeloproliferative neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006460 MONDO:0005070 False thyroglossal duct cyst neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006462 MONDO:0000621 False thyroid gland diffuse large B-cell lymphoma immune system cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006463 MONDO:0024622 False thyroid gland mucoepidermoid carcinoma thyroid gland adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0006467 MONDO:0005096 False thyroid gland squamous cell carcinoma squamous cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006469 MONDO:0000952 False tibial adamantinoma cancer of long bone of lower limb UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0006470 MONDO:0000535 False tonsillar squamous cell carcinoma tonsil squamous cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006478 MONDO:0005617 False undifferentiated pancreatic carcinoma undifferentiated carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006483 MONDO:0024337 False urothelial dysplasia urothelial neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006487 MONDO:0020653 False vaginal adenoid cystic carcinoma vaginal adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006491 MONDO:0001938 False vulvar lichen sclerosus vulvar dystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006491 MONDO:0007899 False vulvar lichen sclerosus lichen sclerosus et atrophicus UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006493 MONDO:0006180 False Warthin tumor digestive system adenoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006493 MONDO:0021460 False Warthin tumor benign neoplasm of salivary gland UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006496 MONDO:0002602 False palsy central nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -14799,164 +21274,95 @@ MONDO:0006497 MONDO:0044996 False cerebral palsy cerebral cortex disorder UNSUPP MONDO:0006499 MONDO:0005070 False hamartoma neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006500 MONDO:0036976 False hemangioma benign epithelial neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006502 MONDO:0001208 False acute respiratory distress syndrome acute respiratory failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006504 MONDO:0005066 False acquired metabolic disease metabolic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0006502 MONDO:0002254 False acute respiratory distress syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006505 MONDO:0003996 False basal ganglia cerebrovascular disorder basal ganglia disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0006505 MONDO:0011057 False basal ganglia cerebrovascular disorder cerebrovascular disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0006506 MONDO:0000577 False congenital nonspherocytic hemolytic anemia congenital anemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006506 MONDO:0003689 False congenital nonspherocytic hemolytic anemia familial hemolytic anemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0006506 MONDO:0019050 False congenital nonspherocytic hemolytic anemia inherited hemoglobinopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0006507 MONDO:0004689 False hereditary hemochromatosis inborn metal metabolism disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0006507 MONDO:0001436 False hereditary hemochromatosis hemosiderosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0006507 MONDO:0017763 False hereditary hemochromatosis disorder of iron metabolism and transport UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006510 MONDO:0005240 False renal tubular transport disease kidney disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0006512 MONDO:0006116 False estrogen-receptor positive breast cancer breast carcinoma by gene expression profile UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006513 MONDO:0006116 False estrogen-receptor negative breast cancer breast carcinoma by gene expression profile UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006515 MONDO:0020683 False acute pancreatitis acute disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006520 MONDO:0005093 False Achenbach syndrome skin disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0006524 MONDO:0006523 False acrodermatitis chronica atrophicans acrodermatitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0006520 MONDO:0002254 False Achenbach syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0006525 MONDO:0004980 False allergic contact dermatitis atopic eczema UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0006526 MONDO:0004980 False allergic urticaria atopic eczema UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0006527 MONDO:0006615 False anhidrosis sweat gland disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0006528 MONDO:0006547 False bacterial exanthem exanthem UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0006528 MONDO:0024295 False bacterial exanthem skin disease caused by bacterial infection UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006530 MONDO:0006566 False cholesteatoma keratosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0006531 MONDO:0006533 False cholesteatoma of attic cholesteatoma of middle ear UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0006532 MONDO:0006530 False cholesteatoma of external ear cholesteatoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0006534 MONDO:0006599 False cholinergic urticaria physical urticaria UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0006536 MONDO:0020087 False congenital generalized lipodystrophy hereditary lipodystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006536 MONDO:0027766 False congenital generalized lipodystrophy generalized lipodystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0006537 MONDO:0001331 False conjunctival pigmentation conjunctival deposit UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0006540 MONDO:0006615 False dyshidrosis sweat gland disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0006541 MONDO:0006617 False epidermolysis bullosa vesiculobullous skin disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0006543 MONDO:0019276 False epidermolysis bullosa dystrophica inherited epidermolysis bullosa UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006544 MONDO:0006619 False erythema infectiosum viral exanthem UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0006544 MONDO:0024294 False erythema infectiosum skin disorder caused by infection UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006547 MONDO:0005093 False exanthem skin disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0006548 MONDO:0005093 False facial dermatosis skin disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0006549 MONDO:0060765 False fibroepithelial polyp of the anus fibroepithelial polyp UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006549 MONDO:0060766 False fibroepithelial polyp of the anus anal polyp UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006550 MONDO:0060765 False fibroepithelial polyp of urethra fibroepithelial polyp UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006551 MONDO:0004907 False alopecia mucinosa alopecia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0006551 MONDO:0006607 False alopecia mucinosa sebaceous gland disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0006551 MONDO:0021653 False alopecia mucinosa cutaneous focal mucinosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006552 MONDO:0002406 False folliculitis dermatitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0006553 MONDO:0006615 False Fox-Fordyce disease sweat gland disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0006554 MONDO:0002406 False granuloma annulare dermatitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0006556 MONDO:0005093 False hand dermatosis skin disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0006557 MONDO:0000652 False hemangioma of subcutaneous tissue integumentary system benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0006557 MONDO:0019296 False hemangioma of subcutaneous tissue subcutaneous tissue disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006558 MONDO:0006594 False pemphigoid gestationis pemphigus UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0006558 MONDO:0024575 False pemphigoid gestationis pregnancy disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006559 MONDO:0002260 False hidradenitis suppurativa hidradenitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0006561 MONDO:0003382 False eyelid hypopigmentation eyelid disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0006565 MONDO:0015614 False juvenile dermatitis herpetiformis dermatitis herpetiformis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0006566 MONDO:0045011 False keratosis keratinization disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006567 MONDO:0001240 False kernicterus due to isoimmunization neonatal anemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0006569 MONDO:0005093 False leg dermatosis skin disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0006570 MONDO:0005093 False lichen disease skin disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0006571 MONDO:0006570 False lichen nitidus lichen disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0006572 MONDO:0006570 False lichen planus lichen disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0006567 MONDO:0018477 False kernicterus due to isoimmunization bilirubin encephalopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0006572 MONDO:0002406 False lichen planus dermatitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0006573 MONDO:0005066 False lipodystrophy metabolic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0006573 MONDO:0005093 False lipodystrophy skin disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0006576 MONDO:0005230 False Ludwig's angina cellulitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0006576 MONDO:0006858 False Ludwig's angina mouth disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0006577 MONDO:0006858 False maxillary sinus cholesteatoma mouth disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0006577 MONDO:0023369 False maxillary sinus cholesteatoma disorder of facial skeleton UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006580 MONDO:0002254 False miliaria syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0006580 MONDO:0006615 False miliaria sweat gland disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0006581 MONDO:0006580 False miliaria rubra miliaria UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0006583 MONDO:0021154 False necrobiosis lipoidica dermis disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006586 MONDO:0002406 False neurotic excoriation dermatitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0006589 MONDO:0005480 False occupational dermatitis contact dermatitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0006589 MONDO:0100366 False occupational dermatitis occupational disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006591 MONDO:0002051 False panniculitis integumentary system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0006591 MONDO:0003900 False panniculitis connective tissue disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0006591 MONDO:0021166 False panniculitis inflammatory disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006592 MONDO:0005083 False parapsoriasis psoriasis UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0006594 MONDO:0019337 False pemphigus autoimmune bullous skin disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0006595 MONDO:0005154 False perinatal jaundice due to hepatocellular damage liver disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0006596 MONDO:0006525 False photoallergic dermatitis allergic contact dermatitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0006596 MONDO:0006597 False photoallergic dermatitis photosensitivity disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0006597 MONDO:0043771 False photosensitivity disease radiodermatitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006598 MONDO:0006564 False phototoxic dermatitis irritant dermatitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0006598 MONDO:0006597 False phototoxic dermatitis photosensitivity disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0006599 MONDO:0005492 False physical urticaria urticaria UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0006601 MONDO:0006547 False pityriasis rosea exanthem UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0006602 MONDO:0006566 False porokeratosis keratosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0006602 MONDO:0019268 False porokeratosis epidermal disease UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006602 MONDO:0100118 False porokeratosis hereditary skin disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006605 MONDO:0005093 False scalp dermatosis skin disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0006606 MONDO:0002523 False scleredema adultorum cutaneous mucinosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0006607 MONDO:0002917 False sebaceous gland disorder disorder of pilosebaceous unit UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0006607 MONDO:0005093 False sebaceous gland disorder skin disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0006609 MONDO:0006608 False seborrheic infantile dermatitis seborrheic dermatitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0006613 MONDO:0001308 False stromal corneal pigmentation corneal deposit UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0006614 MONDO:0019337 False subcorneal pustular dermatosis autoimmune bullous skin disease UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0006615 MONDO:0005093 False sweat gland disorder skin disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0006616 MONDO:0006525 False toxicodendron dermatitis allergic contact dermatitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0006617 MONDO:0005093 False vesiculobullous skin disease skin disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0006618 MONDO:0006599 False vibratory urticaria physical urticaria UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0006619 MONDO:0006547 False viral exanthem exanthem UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0006620 MONDO:0021396 False vulva fibroepithelial polyp polyp of vulva UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006620 MONDO:0060765 False vulva fibroepithelial polyp fibroepithelial polyp UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006622 MONDO:0002656 False vulvar seborrheic keratosis skin carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0006622 MONDO:0005215 False vulvar seborrheic keratosis vulvar carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0006624 MONDO:0006026 False overactive bladder urinary bladder disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0006625 MONDO:0005087 False altitude sickness respiratory system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006629 MONDO:0005178 False osteoarthritis, hip osteoarthritis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006630 MONDO:0005178 False osteoarthritis, spine osteoarthritis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006633 MONDO:0006032 False acalculous cholecystitis cystitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0006634 MONDO:0006373 False pituitary gland acidophil adenoma pituitary gland adenoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0006635 MONDO:0006878 False Acinetobacter infectious disease Moraxellaceae infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006636 MONDO:0005113 False Actinobacillus infectious disease bacterial infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006638 MONDO:0002708 False acute retinal necrosis syndrome retinitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0006638 MONDO:0020683 False acute retinal necrosis syndrome acute disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006639 MONDO:0002095 False adrenal cortex carcinoma vascular cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0006639 MONDO:0002814 False adrenal cortex carcinoma adrenal carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0006639 MONDO:0005086 False adrenal cortex carcinoma renal cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0006640 MONDO:0002816 False adrenal gland hyperfunction adrenal cortex disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0006641 MONDO:0004566 False afferent loop syndrome postgastrectomy syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0006642 MONDO:0002326 False alcohol withdrawal delirium alcohol-induced mental disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006642 MONDO:0005433 False alcohol withdrawal delirium alcohol withdrawal UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006642 MONDO:0021698 False alcohol withdrawal delirium alcohol-related disorders UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006643 MONDO:0002824 False alcoholic cardiomyopathy extrinsic cardiomyopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0006643 MONDO:0021699 False alcoholic cardiomyopathy alcohol-induced disorders UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006647 MONDO:0002679 False anterior cerebral artery infarction cerebral infarction UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0006648 MONDO:0004001 False anterior compartment of tibia syndrome compartment syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0006644 MONDO:0043693 False alcoholic liver cirrhosis alcoholic liver diseases UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006645 MONDO:0001824 False alcoholic polyneuropathy polyneuropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0006648 MONDO:0020120 False anterior compartment of tibia syndrome skeletal muscle disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006649 MONDO:0002135 False anterior ischemic optic neuropathy optic nerve disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0006650 MONDO:0000473 False anterior spinal artery syndrome arterial disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0006650 MONDO:0002254 False anterior spinal artery syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0006652 MONDO:0005068 False anterolateral myocardial infarction myocardial infarction UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0006655 MONDO:0003803 False aortic valve prolapse aortic valve disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0006656 MONDO:0005561 False aortitis aortic disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0006656 MONDO:0018882 False aortitis vasculitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0006658 MONDO:0021661 False arteriolosclerosis coronary atherosclerosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006659 MONDO:0021661 False arteriosclerosis obliterans coronary atherosclerosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006660 MONDO:0007004 False arthus reaction type III hypersensitivity disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0006663 MONDO:0005087 False perinatal asphyxia respiratory system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0006664 MONDO:0002078 False atrial septal defect heart septal defect UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0006662 MONDO:0021108 False aseptic meningitis meningitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006664 MONDO:0003847 False atrial septal defect hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0006665 MONDO:0005001 False chronic atrophic gastritis chronic gastritis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006666 MONDO:0003240 False atrophy of thyroid thyroid gland disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006668 MONDO:0043885 False bacterial conjunctivitis eye infectious disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006669 MONDO:0000565 False bacterial endocarditis infective endocarditis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006669 MONDO:0005113 False bacterial endocarditis bacterial infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006671 MONDO:0006705 False Bacteroides infectious disease Bacteroidaceae infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006671 MONDO:0024389 False Bacteroides infectious disease anaerobic bacteria infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006672 MONDO:0021166 False balanitis inflammatory disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006673 MONDO:0003641 False pituitary gland basophil adenoma central nervous system hematopoietic neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0006673 MONDO:0004805 False pituitary gland basophil adenoma leukocyte disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0006673 MONDO:0006373 False pituitary gland basophil adenoma pituitary gland adenoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0006677 MONDO:0004868 False bile reflux biliary tract disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0006678 MONDO:0004828 False bladder calculus lower urinary tract calculus UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0006678 MONDO:0006026 False bladder calculus urinary bladder disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0006679 MONDO:0006026 False bladder neck obstruction urinary bladder disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0006676 MONDO:0042976 False beriberi vitamin B deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006681 MONDO:0021839 False Borrelia infectious disease spirochaetales infections UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006682 MONDO:0002122 False brachial plexus neuritis neuritis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0006682 MONDO:0006683 False brachial plexus neuritis brachial plexus neuropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0006684 MONDO:0005560 False brain edema brain disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0006683 MONDO:0024432 False brachial plexus neuropathy nerve plexus disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0006685 MONDO:0005299 False brain hypoxia - ischemia brain ischemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006686 MONDO:0005394 False brain stem infarction brain infarction UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0006688 MONDO:0015926 False byssinosis pneumoconiosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0006690 MONDO:0002907 False carotid artery thrombosis intracranial thrombosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0006690 MONDO:0005269 False carotid artery thrombosis carotid artery disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0006693 MONDO:0006808 False cerebral arterial disease intracranial arterial disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0006696 MONDO:0002256 False cervix erosion cervix disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0006698 MONDO:0005281 False cholecystolithiasis gallbladder disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0006699 MONDO:0002886 False choledocholithiasis common bile duct disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0006687 MONDO:0002254 False burning mouth syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0006699 MONDO:0005346 False choledocholithiasis gallstones UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006700 MONDO:0002095 False choroid cancer vascular cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0006700 MONDO:0043218 False choroid cancer neurovascular disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006701 MONDO:0006373 False chromophobe adenoma pituitary gland adenoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0006702 MONDO:0003334 False chronic inflammatory demyelinating polyradiculoneuropathy demyelinating polyneuropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0006702 MONDO:0006915 False chronic inflammatory demyelinating polyradiculoneuropathy polyradiculoneuropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0006704 MONDO:0007179 False CNS demyelinating autoimmune disease autoimmune disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -14965,39 +21371,20 @@ MONDO:0006706 MONDO:0005113 False Bifidobacteriales infectious disease bacterial MONDO:0006708 MONDO:0021678 False Desulfovibrionaceae infectious disease gram-negative bacterial infections UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006709 MONDO:0002886 False common bile duct neoplasm common bile duct disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0006709 MONDO:0021385 False common bile duct neoplasm extrahepatic bile duct neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006710 MONDO:0005384 False complex partial epilepsy focal epilepsy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0006712 MONDO:0000942 False corneal edema corneal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0006713 MONDO:0003085 False corneal neovascularization keratitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0006714 MONDO:0005010 False coronary aneurysm coronary artery disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0006715 MONDO:0005010 False coronary stenosis coronary artery disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0006716 MONDO:0000831 False coronary thrombosis thrombotic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0006716 MONDO:0005010 False coronary thrombosis coronary artery disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0006718 MONDO:0005976 False cutaneous syphilis syphilis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006718 MONDO:0024295 False cutaneous syphilis skin disease caused by bacterial infection UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006720 MONDO:0005626 False cystic, mucinous, and serous neoplasm epithelial neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006721 MONDO:0006816 False de Quervain disease arthropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0006723 MONDO:0004842 False denture stomatitis stomatitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0006726 MONDO:0005728 False diaphragmatic eventration diaphragm disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0006727 MONDO:0005009 False diastolic heart failure congestive heart failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0006729 MONDO:0006987 False discrete subaortic stenosis subvalvular aortic stenosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0006730 MONDO:0001423 False drug psychosis drug-induced mental disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0006730 MONDO:0004630 False drug psychosis substance-induced psychosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0006732 MONDO:0005071 False drug-induced dyskinesia nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006733 MONDO:0001854 False dry eye syndrome lacrimal apparatus disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0006733 MONDO:0002254 False dry eye syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0006733 MONDO:0004768 False dry eye syndrome keratoconjunctivitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0006735 MONDO:0002866 False duodenogastric reflux duodenal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0006735 MONDO:0007186 False duodenogastric reflux gastroesophageal reflux disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0006736 MONDO:0005039 False dysplasia of cervix reproductive system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006737 MONDO:0024575 False dystocia pregnancy disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006739 MONDO:0004989 False Ehrlich tumor carcinoma breast carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0006740 MONDO:0003381 False empty sella syndrome pituitary gland disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0006742 MONDO:0006873 False endemic goiter nutritional deficiency disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0006740 MONDO:0002254 False empty sella syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0006742 MONDO:0005397 False endemic goiter goiter UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0006743 MONDO:0005151 False endocrine tuberculosis endocrine system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006743 MONDO:0018076 False endocrine tuberculosis tuberculosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006744 MONDO:0004900 False endolymphatic hydrops peripheral vertigo UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0006745 MONDO:0003311 False endometrioid stromal sarcoma endometrial stromal tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0006745 MONDO:0011962 False endometrioid stromal sarcoma endometrial cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0006746 MONDO:0005201 False endomyocardial fibrosis restrictive cardiomyopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0006747 MONDO:0024913 False enterotoxemia cattle disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006747 MONDO:0024950 False enterotoxemia horse disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006747 MONDO:0024985 False enterotoxemia sheep disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -15007,162 +21394,92 @@ MONDO:0006748 MONDO:0005027 False epilepsia partialis continua epilepsy UNSUPPOR MONDO:0006751 MONDO:0021679 False Erysipelothrix infectious disease gram-positive bacterial infections UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006752 MONDO:0006751 False Erysipelothrix rhusiopathiae infectious disease Erysipelothrix infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006753 MONDO:0006670 False Escherichia coli meningitis bacterial meningitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006754 MONDO:0003749 False esophageal diverticulosis esophageal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0006757 MONDO:0001751 False extrahepatic cholestasis cholestasis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0006755 MONDO:0002254 False euthyroid sick syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0006757 MONDO:0006322 False extrahepatic cholestasis non-neoplastic bile duct disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006758 MONDO:0005039 False female genital tuberculosis reproductive system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006759 MONDO:0001397 False femoral neuropathy mononeuropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0006759 MONDO:0024334 False femoral neuropathy peripheral nerve lesion UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006760 MONDO:0001245 False fetal erythroblastosis microcytic anemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0006761 MONDO:0000473 False fibromuscular dysplasia arterial disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006761 MONDO:0003847 False fibromuscular dysplasia hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006762 MONDO:0024913 False freemartinism cattle disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006762 MONDO:0700105 False freemartinism difference of sexual differentiation, non-human animal UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006763 MONDO:0006816 False frozen shoulder arthropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0006764 MONDO:0002041 False fungal meningitis fungal infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0006764 MONDO:0004796 False fungal meningitis infectious meningitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0006765 MONDO:0006925 False Fusobacterium infectious disease Fusobacteriaceae infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006765 MONDO:0024389 False Fusobacterium infectious disease anaerobic bacteria infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006766 MONDO:0000665 False gait apraxia apraxia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0006767 MONDO:0001574 False gastric antral vascular ectasia capillary disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0006769 MONDO:0001318 False gastroparesis functional gastric disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0006770 MONDO:0005674 False giant cell reparative granuloma bone giant cell tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0006771 MONDO:0001165 False glossitis tongue disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0006767 MONDO:0021658 False gastric antral vascular ectasia vascular ectasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006771 MONDO:0021166 False glossitis inflammatory disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006773 MONDO:0006054 False gonadal tissue neoplasm reproductive system neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006774 MONDO:0005039 False habitual spontaneous abortion reproductive system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006779 MONDO:0005267 False heart aneurysm heart disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0006780 MONDO:0024913 False heartwater disease cattle disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006780 MONDO:0700205 False heartwater disease ehrlichiosis, non-human animal UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006781 MONDO:0021678 False Helicobacter pylori infectious disease gram-negative bacterial infections UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006782 MONDO:0002654 False hemometra uterine disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0006783 MONDO:0002076 False hemopneumothorax pneumothorax UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0006784 MONDO:0001531 False hemorrhagic disease of newborn blood coagulation disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006784 MONDO:0005137 False hemorrhagic disease of newborn nutritional disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006786 MONDO:0002405 False hepatic vein thrombosis hepatic vascular disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0006788 MONDO:0000365 False hydrophthalmos primary congenital glaucoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0006789 MONDO:0005570 False hyperamylasemia hematologic disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006791 MONDO:0024575 False hyperemesis gravidarum pregnancy disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006792 MONDO:0002610 False hyperglobulinemic purpura purpura UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0006792 MONDO:0005093 False hyperglobulinemic purpura skin disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0006793 MONDO:0024468 False hyperpituitarism anterior pituitary gland disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006794 MONDO:0000605 False hypersensitivity vasculitis hypersensitivity reaction disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0006796 MONDO:0006810 False hypertensive encephalopathy intracranial hypertension UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0006798 MONDO:0003916 False hypervitaminosis A overnutrition UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0006794 MONDO:0018882 False hypersensitivity vasculitis vasculitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0006799 MONDO:0002150 False hypothalamic neoplasm hypothalamic disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0006800 MONDO:0000665 False ideomotor apraxia apraxia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0006802 MONDO:0003381 False inappropriate ADH syndrome pituitary gland disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0006803 MONDO:0005068 False inferior myocardial infarction myocardial infarction UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0006805 MONDO:0005010 False intermediate coronary syndrome coronary artery disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0006807 MONDO:0005020 False intestinal perforation intestinal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0006808 MONDO:0011057 False intracranial arterial disease cerebrovascular disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0006809 MONDO:0011057 False intracranial embolism cerebrovascular disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0006802 MONDO:0045072 False inappropriate ADH syndrome ectopic hormone secretion syndrome associated with neoplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006810 MONDO:0005044 False intracranial hypertension hypertensive disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0006810 MONDO:0005560 False intracranial hypertension brain disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0006810 MONDO:0043218 False intracranial hypertension neurovascular disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006811 MONDO:0005560 False intracranial hypotension brain disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0006812 MONDO:0011057 False intracranial vasospasm cerebrovascular disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0006814 MONDO:0002289 False iritis iris disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0006814 MONDO:0020283 False iritis uveitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0006815 MONDO:0000956 False jejunal cancer small intestine cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0006815 MONDO:0002564 False jejunal cancer jejunal neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0006816 MONDO:0005172 False arthropathy skeletal system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006820 MONDO:0005240 False kidney cortex necrosis kidney disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0006821 MONDO:0005240 False kidney papillary necrosis kidney disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0006823 MONDO:0017975 False Klinefelter syndrome sex chromosome disorder of sex development UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006823 MONDO:0700027 False Klinefelter syndrome chromosome X disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006823 MONDO:0700065 False Klinefelter syndrome trisomy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006824 MONDO:0004993 False Krebs 2 carcinoma carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006825 MONDO:0005395 False kuru movement disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0006825 MONDO:0005429 False kuru prion disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0006825 MONDO:0018926 False kuru human prion disease UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006826 MONDO:0001371 False kwashiorkor protein-energy malnutrition UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0006827 MONDO:0006686 False lateral medullary syndrome brain stem infarction UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0006828 MONDO:0002436 False nasal cavity and paranasal sinus lethal midline granuloma nasal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0006827 MONDO:0002254 False lateral medullary syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0006828 MONDO:0005586 False nasal cavity and paranasal sinus lethal midline granuloma head and neck neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006829 MONDO:0004959 False leukemoid reaction plasma cell neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006830 MONDO:0002036 False leukoplakia of penis penile disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0006831 MONDO:0004805 False leukostasis leukocyte disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0006833 MONDO:0005397 False lingual goiter goiter UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0006834 MONDO:0005515 False lip cancer oral cavity cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0006830 MONDO:0043243 False leukoplakia of penis leukoplakia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006835 MONDO:0002462 False lipoid nephrosis glomerulonephritis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0006836 MONDO:0005828 False Listeria meningitis listeriosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0006836 MONDO:0006670 False Listeria meningitis bacterial meningitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0006837 MONDO:0002135 False low tension glaucoma optic nerve disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0006837 MONDO:0005338 False low tension glaucoma open-angle glaucoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0006838 MONDO:0000368 False lupus vulgaris extrapulmonary tuberculosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006839 MONDO:0006664 False Lutembacher syndrome atrial septal defect UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0006840 MONDO:0005833 False lymphangiectasis lymphatic system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006840 MONDO:0021658 False lymphangiectasis vascular ectasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006844 MONDO:0006873 False magnesium deficiency nutritional deficiency disease UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006845 MONDO:0003150 False male genital tuberculosis male reproductive system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006845 MONDO:0006002 False male genital tuberculosis urogenital tuberculosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006846 MONDO:0005044 False malignant hypertension hypertensive disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0006848 MONDO:0001371 False marasmus protein-energy malnutrition UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0006849 MONDO:0021166 False mastitis inflammatory disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006850 MONDO:0005841 False maxillary sinus neoplasm maxillary neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0006851 MONDO:0024263 False meconium aspiration syndrome neonatal aspiration syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006855 MONDO:0005294 False mesenteric vascular occlusion peripheral vascular disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0006857 MONDO:0002679 False middle cerebral artery infarction cerebral infarction UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0006857 MONDO:0006693 False middle cerebral artery infarction cerebral arterial disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0006858 MONDO:0700096 False mouth disorder human disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006861 MONDO:0005089 False myeloid sarcoma sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0006861 MONDO:0015667 False myeloid sarcoma acute myeloid leukemia by FAB classification UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006862 MONDO:0005336 False myofascial pain syndrome myopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0006864 MONDO:0001142 False necrotizing sialometaplasia salivary gland disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0006866 MONDO:0009688 False neonatal myasthenia gravis myasthenia gravis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0006868 MONDO:0005020 False neurogenic bowel intestinal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0006871 MONDO:0005207 False non-gestational choriocarcinoma choriocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0006874 MONDO:0001751 False obstructive jaundice cholestasis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0006874 MONDO:0006322 False obstructive jaundice non-neoplastic bile duct disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006875 MONDO:0005044 False ocular hypertension hypertensive disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0006875 MONDO:0005328 False ocular hypertension eye disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0006876 MONDO:0000368 False ocular tuberculosis extrapulmonary tuberculosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0006876 MONDO:0043885 False ocular tuberculosis eye infectious disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006877 MONDO:0005558 False oophoritis ovarian disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0006877 MONDO:0021166 False oophoritis inflammatory disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006878 MONDO:0021678 False Moraxellaceae infectious disease gram-negative bacterial infections UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006879 MONDO:0002708 False optic papillitis retinitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0006879 MONDO:0005885 False optic papillitis optic neuritis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0006880 MONDO:0006858 False oral leukoedema mouth disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0006881 MONDO:0001230 False orbital cellulitis acute orbital inflammation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0006881 MONDO:0005230 False orbital cellulitis cellulitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0006882 MONDO:0021166 False orchitis inflammatory disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006884 MONDO:0001718 False panophthalmitis scleritis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0006884 MONDO:0004863 False panophthalmitis purulent endophthalmitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0006886 MONDO:0005034 False thyroid gland papillary and follicular carcinoma thyroid gland follicular carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0006886 MONDO:0005075 False thyroid gland papillary and follicular carcinoma thyroid gland papillary carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0006887 MONDO:0000922 False parametritis pelvic inflammatory disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0006887 MONDO:0002654 False parametritis uterine disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0006887 MONDO:0043786 False parametritis serositis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006887 MONDO:0045043 False parametritis disorder of uterine broad ligament UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006888 MONDO:0001824 False paraneoplastic polyneuropathy polyneuropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0006888 MONDO:0018215 False paraneoplastic polyneuropathy paraneoplastic neurologic syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006889 MONDO:0006904 False paraphimosis phimosis UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0006891 MONDO:0005384 False partial motor epilepsy focal epilepsy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0006892 MONDO:0005384 False partial sensory epilepsy focal epilepsy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0006893 MONDO:0005229 False Pasteurella hemorrhagic septicemia bacterial infectious disease with sepsis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006893 MONDO:0040998 False Pasteurella hemorrhagic septicemia Pasteurella multocida infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006894 MONDO:0006816 False patellofemoral pain syndrome arthropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0006896 MONDO:0001409 False peptic esophagitis esophagitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0006896 MONDO:0004247 False peptic esophagitis peptic ulcer disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0006896 MONDO:0044782 False peptic esophagitis esophageal ulcer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006897 MONDO:0004508 False periapical granuloma periapical periodontitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0006898 MONDO:0002471 False periarthritis bursitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0006898 MONDO:0005578 False periarthritis arthritic joint disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0006899 MONDO:0002021 False pericoronitis gingival disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0006899 MONDO:0005076 False pericoronitis periodontitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0006900 MONDO:0005240 False perinephritis kidney disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0006900 MONDO:0021166 False perinephritis inflammatory disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006908 MONDO:0001259 False pituitary apoplexy pituitary gland infarction UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0006908 MONDO:0019832 False pituitary apoplexy acquired pituitary hormone deficiency UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006909 MONDO:0005495 False pituitary dwarfism adrenal gland disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006912 MONDO:0005020 False pneumatosis cystoides intestinalis intestinal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0006913 MONDO:0001316 False pneumococcal meningitis streptococcal meningitis UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006913 MONDO:0005114 False pneumococcal meningitis pneumococcal infection UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006915 MONDO:0001824 False polyradiculoneuropathy polyneuropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0006915 MONDO:0002562 False polyradiculoneuropathy demyelinating disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0006916 MONDO:0004868 False postcholecystectomy syndrome biliary tract disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0006916 MONDO:0006026 False postcholecystectomy syndrome urinary bladder disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0006917 MONDO:0002679 False posterior cerebral artery infarction cerebral infarction UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0006917 MONDO:0006693 False posterior cerebral artery infarction cerebral arterial disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0006918 MONDO:0020283 False posterior uveitis uveitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0006919 MONDO:0006873 False potassium deficiency nutritional deficiency disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006921 MONDO:0021679 False Actinomycetales infectious disease gram-positive bacterial infections UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006921 MONDO:0024389 False Actinomycetales infectious disease anaerobic bacteria infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -15171,66 +21488,45 @@ MONDO:0006922 MONDO:0021678 False Anaplasmataceae infectious disease gram-negati MONDO:0006923 MONDO:0021679 False Bacillaceae infectious disease gram-positive bacterial infections UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006924 MONDO:0021678 False Bartonellaceae infectious disease gram-negative bacterial infections UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006925 MONDO:0021678 False Fusobacteriaceae infectious disease gram-negative bacterial infections UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006926 MONDO:0005113 False haemophilus infectious disease bacterial infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006927 MONDO:0006956 False Rickettsiaceae infectious disease Rickettsiosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006927 MONDO:0021678 False Rickettsiaceae infectious disease gram-negative bacterial infections UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006929 MONDO:0005113 False Proteus infectious disease bacterial infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006931 MONDO:0005275 False pulmonary coin lesion lung disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0006933 MONDO:0005275 False pulmonary plasma cell granuloma lung disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0006935 MONDO:0006936 False pulmonary subvalvular stenosis pulmonary valve stenosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0006936 MONDO:0003628 False pulmonary valve stenosis pulmonary valve disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0006937 MONDO:0003394 False pulpitis dental pulp disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0006930 MONDO:0003569 False pseudobulbar palsy cranial nerve neuropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0006932 MONDO:0001208 False pulmonary edema acute respiratory failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006937 MONDO:0005113 False pulpitis bacterial infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0006937 MONDO:0021166 False pulpitis inflammatory disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006938 MONDO:0001166 False pyelitis nephritis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0006939 MONDO:0001786 False pyelonephritis uterine inflammatory disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0006939 MONDO:0006938 False pyelonephritis pyelitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0006940 MONDO:0001459 False radial nerve lesion radial neuropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0006939 MONDO:0005247 False pyelonephritis bacterial urinary tract infection UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006940 MONDO:0003607 False radial nerve lesion neuritis of upper limb UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0006940 MONDO:0006682 False radial nerve lesion brachial plexus neuritis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0006940 MONDO:0024334 False radial nerve lesion peripheral nerve lesion UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006941 MONDO:0005113 False rat-bite fever bacterial infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006941 MONDO:0100120 False rat-bite fever vector-borne disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006944 MONDO:0005240 False renal aminoaciduria kidney disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006945 MONDO:0002286 False renal artery obstruction renal artery disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0006946 MONDO:0001530 False renal osteodystrophy secondary hyperparathyroidism of renal origin UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0006946 MONDO:0005520 False renal osteodystrophy rickets UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0006947 MONDO:0001105 False renovascular hypertension renal hypertension UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0006949 MONDO:0002175 False retinal drusen degeneration of macula and posterior pole UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0006950 MONDO:0002311 False retinal vasculitis retinal vascular disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0006950 MONDO:0002708 False retinal vasculitis retinitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0006950 MONDO:0018882 False retinal vasculitis vasculitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0006953 MONDO:0002901 False Rh isoimmunization blood group incompatibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0006955 MONDO:0021166 False rheumatic heart disease inflammatory disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006956 MONDO:0005113 False Rickettsiosis bacterial infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006957 MONDO:0002233 False root caries enamel caries UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0006960 MONDO:0001397 False sciatic neuropathy mononeuropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0006961 MONDO:0005429 False scrapie prion disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0006963 MONDO:0006607 False sebaceous gland neoplasm sebaceous gland disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0006965 MONDO:0006816 False secondary hypertrophic osteoarthropathy arthropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0006966 MONDO:0005559 False secondary Parkinson disease neurodegenerative disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0006968 MONDO:0006816 False shoulder impingement syndrome arthropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0006969 MONDO:0002052 False sialadenitis lymphadenitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0006970 MONDO:0001142 False sialolithiasis salivary gland disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0006971 MONDO:0005401 False sigmoid neoplasm colonic neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006972 MONDO:0005275 False silo filler disease lung disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0006976 MONDO:0005369 False somatostatinoma carcinoid tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006976 MONDO:0019954 False somatostatinoma pancreatic neuroendocrine tumor UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006978 MONDO:0020674 False splenic infarction vascular insufficiency disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006979 MONDO:0700103 False steatitis nutritional deficiency disease, non-human animal UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006981 MONDO:0000565 False subacute bacterial endocarditis infective endocarditis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0006981 MONDO:0020683 False subacute bacterial endocarditis acute disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006982 MONDO:0001949 False subacute thyroiditis acute thyroiditis UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0006983 MONDO:0011057 False subclavian steal syndrome cerebrovascular disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0006984 MONDO:0005242 False subdural empyema empyema UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006984 MONDO:0024619 False subdural empyema central nervous system infectious disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006986 MONDO:0005397 False substernal goiter goiter UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0006987 MONDO:0042981 False subvalvular aortic stenosis aortic valve stenosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0006988 MONDO:0044348 False sulfhemoglobinemia hemoglobinopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006989 MONDO:0004508 False suppurative periapical periodontitis periapical periodontitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0006990 MONDO:0020283 False suppurative uveitis uveitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0006992 MONDO:0005976 False syphilitic aortitis syphilis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006993 MONDO:0005009 False systolic heart failure congestive heart failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0006994 MONDO:0006997 False tarsal tunnel syndrome tibial neuropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0006995 MONDO:0002545 False tethered spinal cord syndrome spinal cord disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0006997 MONDO:0001397 False tibial neuropathy mononeuropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0006994 MONDO:0002254 False tarsal tunnel syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0006995 MONDO:0002254 False tethered spinal cord syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0006996 MONDO:0004425 False thyroid crisis hyperthyroidism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0006998 MONDO:0004685 False tonsil cancer Waldeyer's ring cancer UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0006999 MONDO:0005172 False tooth disorder skeletal system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007000 MONDO:0005323 False Treponema infectious disease bacterial sexually transmitted disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -15238,131 +21534,76 @@ MONDO:0007000 MONDO:0021678 False Treponema infectious disease gram-negative bac MONDO:0007000 MONDO:0021839 False Treponema infectious disease spirochaetales infections UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007001 MONDO:0005561 False tricuspid valve prolapse aortic disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0007001 MONDO:0020289 False tricuspid valve prolapse congenital tricuspid malformation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007002 MONDO:0003620 False trochlear nerve disorder peripheral nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0007004 MONDO:0007179 False type III hypersensitivity disease autoimmune disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0007005 MONDO:0005265 False ulcerative proctosigmoiditis inflammatory bowel disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007006 MONDO:0001397 False ulnar neuropathy mononeuropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0007006 MONDO:0006683 False ulnar neuropathy brachial plexus neuropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0007007 MONDO:0005297 False Ureaplasma urethritis urethritis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007008 MONDO:0001106 False uremia kidney failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0007009 MONDO:0006026 False ureterolithiasis urinary bladder disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0007011 MONDO:0019338 False uveoparotid fever sarcoidosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0007012 MONDO:0018686 False variant Creutzfeldt-Jakob disease acquired Creutzfeldt-Jakob disease UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007013 MONDO:0005362 False vasculogenic impotence erectile dysfunction UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0007014 MONDO:0005113 False vibrio infectious disease bacterial infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007015 MONDO:0006662 False viral meningitis aseptic meningitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0007017 MONDO:0004860 False vitreous detachment vitreous disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0007016 MONDO:0024298 False vitamin A deficiency vitamin deficiency disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007017 MONDO:0020246 False vitreous detachment inherited vitreoretinopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007018 MONDO:0002187 False vulvitis vulvar disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0007018 MONDO:0021166 False vulvitis inflammatory disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007019 MONDO:0002234 False vulvovaginitis vaginitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0007019 MONDO:0007018 False vulvovaginitis vulvitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0007020 MONDO:0005560 False Wernicke encephalopathy brain disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0007020 MONDO:0021698 False Wernicke encephalopathy alcohol-related disorders UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007022 MONDO:0001110 False xanthogranulomatous pyelonephritis chronic pyelonephritis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0007023 MONDO:0005113 False Yersinia infectious disease bacterial infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007024 MONDO:0007023 False Yersinia pseudotuberculosis infectious disease Yersinia infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007025 MONDO:0005976 False chancre syphilis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007027 MONDO:0002251 False metabolic dysfunction-associated steatohepatitis hepatitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0007028 MONDO:0020120 False rotator cuff syndrome skeletal muscle disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007029 MONDO:0000426 False branchio-oto-renal syndrome autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0007029 MONDO:0015161 False branchio-oto-renal syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007030 MONDO:0000426 False autosomal dominant Aarskog syndrome autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0007030 MONDO:0021005 False autosomal dominant Aarskog syndrome faciodigitogenital syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0007031 MONDO:0003847 False familial abdominal aortic aneurysm hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007031 MONDO:0005350 False familial abdominal aortic aneurysm abdominal aortic aneurysm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007032 MONDO:0018559 False prune belly syndrome fetal lower urinary tract obstruction UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007032 MONDO:0100191 False prune belly syndrome inherited kidney disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007034 MONDO:0003847 False Adams-Oliver syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0007034 MONDO:0018234 False Adams-Oliver syndrome dysostosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0007034 MONDO:0019054 False Adams-Oliver syndrome congenital limb malformation UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007035 MONDO:0002406 False acanthosis nigricans dermatitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0007036 MONDO:0003847 False Achard syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0007037 MONDO:0005516 False Achondroplasia osteochondrodysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0007037 MONDO:0019685 False Achondroplasia FGFR3-related chondrodysplasia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007038 MONDO:0003847 False Achoo syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007039 MONDO:0021061 False neurofibromatosis type 2 neurofibromatosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0007040 MONDO:0000078 False Sakati-Nyhan syndrome acrocephalopolysyndactyly UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007041 MONDO:0019796 False Apert syndrome acrocephalosyndactyly UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007043 MONDO:0000078 False Pfeiffer syndrome acrocephalopolysyndactyly UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007045 MONDO:0015159 False acrofacial dysostosis, Catania type multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007045 MONDO:0018237 False acrofacial dysostosis, Catania type acrofacial dysostosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0007046 MONDO:0006566 False hereditary papulotranslucent acrokeratoderma keratosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0007046 MONDO:0100118 False hereditary papulotranslucent acrokeratoderma hereditary skin disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007047 MONDO:0017675 False punctate palmoplantar keratoderma type III punctate palmoplantar keratoderma UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0007048 MONDO:0006566 False acrokeratosis verruciformis keratosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0007048 MONDO:0100118 False acrokeratosis verruciformis hereditary skin disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007049 MONDO:0003847 False acroleukopathy, symmetric hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007050 MONDO:0003847 False acromegaloid changes, cutis verticis gyrata, and corneal leukoma hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007051 MONDO:0015160 False acromegaloid facial appearance syndrome multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007052 MONDO:0006238 False growth hormone secreting pituitary adenoma 1 growth hormone-producing pituitary gland adenoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0007054 MONDO:0003847 False acromial dimples hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007055 MONDO:0019695 False Acromicric dysplasia acromelic dysplasia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007056 MONDO:0019707 False acroosteolysis primary osteolysis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007057 MONDO:0000426 False Acroosteolysis dominant type autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0007057 MONDO:0003157 False Acroosteolysis dominant type disappearing bone disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0007057 MONDO:0005554 False Acroosteolysis dominant type rheumatic disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0007057 MONDO:0007056 False Acroosteolysis dominant type acroosteolysis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0007057 MONDO:0023603 False Acroosteolysis dominant type hereditary disorder of connective tissue UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007058 MONDO:0015929 False Acropectorovertebral dysplasia thoracic malformation UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007058 MONDO:0800066 False Acropectorovertebral dysplasia polydactyly-syndactyly-triphalangism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007059 MONDO:0015161 False acrorenal syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007060 MONDO:0015746 False spermatogenic failure 6 male infertility due to globozoospermia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0007062 MONDO:0018234 False adactylia, unilateral dysostosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007062 MONDO:0019713 False adactylia, unilateral non-syndromic limb reduction defect UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007064 MONDO:0017855 False severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency T-B- severe combined immunodeficiency UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007064 MONDO:0019236 False severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency inborn disorder of purine metabolism UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007064 MONDO:0031520 False severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency familial severe combined immunodeficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0007066 MONDO:0003847 False adenosine triphosphatase deficiency, anemia due to hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007067 MONDO:0016789 False pyruvate kinase hyperactivity pyruvate metabolism disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007068 MONDO:0004736 False adenylosuccinate lyase deficiency inborn disorder of amino acid metabolism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0007068 MONDO:0019236 False adenylosuccinate lyase deficiency inborn disorder of purine metabolism UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007070 MONDO:0000652 False adiposis dolorosa integumentary system benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0007070 MONDO:0006574 False adiposis dolorosa lipomatosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0007070 MONDO:0019296 False adiposis dolorosa subcutaneous tissue disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007071 MONDO:0015129 False adrenocortical hypofunction, chronic primary congenital chronic primary adrenal insufficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING -MONDO:0007072 MONDO:0000426 False ADULT syndrome autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0007072 MONDO:0018234 False ADULT syndrome dysostosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0007072 MONDO:0019054 False ADULT syndrome congenital limb malformation UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007072 MONDO:0019287 False ADULT syndrome ectodermal dysplasia syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS MONDO:0007073 MONDO:0015160 False Hypoglossia-hypodactyly syndrome multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007073 MONDO:0017139 False Hypoglossia-hypodactyly syndrome oromandibular-limb hypogenesis syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007073 MONDO:0019054 False Hypoglossia-hypodactyly syndrome congenital limb malformation UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007073 MONDO:0019713 False Hypoglossia-hypodactyly syndrome non-syndromic limb reduction defect UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007074 MONDO:0003900 False ainhum connective tissue disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0007074 MONDO:0005093 False ainhum skin disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0007074 MONDO:0005381 False ainhum bone disorder UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0007075 MONDO:0019627 False alacrima, congenital, autosomal dominant isolated congenital alacrima UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007077 MONDO:0005328 False Tietz syndrome eye disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0007077 MONDO:0019290 False Tietz syndrome hypopigmentation of the skin UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007077 MONDO:0100118 False Tietz syndrome hereditary skin disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007078 MONDO:0019695 False pseudohypoparathyroidism type 1A acromelic dysplasia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007078 MONDO:0019992 False pseudohypoparathyroidism type 1A pseudohypoparathyroidism UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0007078 MONDO:0800466 False pseudohypoparathyroidism type 1A disorder of GNAS inactivation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007079 MONDO:0005303 False alcohol dependence drug dependence UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0007079 MONDO:0021698 False alcohol dependence alcohol-related disorders UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007082 MONDO:0005340 False alopecia areata 1 alopecia areata UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007083 MONDO:0017666 False autosomal dominant palmoplantar keratoderma and congenital alopecia diffuse palmoplantar keratoderma UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007083 MONDO:0019287 False autosomal dominant palmoplantar keratoderma and congenital alopecia ectodermal dysplasia syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS MONDO:0007085 MONDO:0002051 False alopecia-epilepsy-pyorrhea-intellectual disability syndrome integumentary system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007085 MONDO:0002254 False alopecia-epilepsy-pyorrhea-intellectual disability syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007085 MONDO:0003847 False alopecia-epilepsy-pyorrhea-intellectual disability syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007086 MONDO:0000426 False autosomal dominant Alport syndrome autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0007088 MONDO:0015140 False Alzheimer disease type 1 early-onset autosomal dominant Alzheimer disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007089 MONDO:0015547 False Alzheimer disease 2 hereditary dementia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007089 MONDO:0024237 False Alzheimer disease 2 inherited neurodegenerative disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007089 MONDO:0100087 False Alzheimer disease 2 familial Alzheimer disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007090 MONDO:0003847 False amastia, bilateral, with ureteral triplication and dysmorphism hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007091 MONDO:0003847 False amelia and terminal transverse hemimelia hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007092 MONDO:0000426 False amelogenesis imperfecta type 1B autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0007092 MONDO:0015047 False amelogenesis imperfecta type 1B amelogenesis imperfecta type 1 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007094 MONDO:0015047 False amelogenesis imperfecta type 1A amelogenesis imperfecta type 1 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007095 MONDO:0019287 False ameloonychohypohidrotic syndrome ectodermal dysplasia syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0007096 MONDO:0003847 False amenorrhea-galactorrhea syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007097 MONDO:0002254 False Finnish type amyloidosis syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0007097 MONDO:0018102 False Finnish type amyloidosis corneal dystrophy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0007097 MONDO:0018634 False Finnish type amyloidosis hereditary amyloidosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007097 MONDO:0020127 False Finnish type amyloidosis hereditary peripheral neuropathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007098 MONDO:0005620 False ACys amyloidosis cerebral amyloid angiopathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0007099 MONDO:0018634 False familial visceral amyloidosis hereditary amyloidosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007100 MONDO:0018634 False familial amyloid neuropathy hereditary amyloidosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007100 MONDO:0020127 False familial amyloid neuropathy hereditary peripheral neuropathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007101 MONDO:0015301 False familial primary localized cutaneous amyloidosis primary cutaneous amyloidosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007101 MONDO:0018634 False familial primary localized cutaneous amyloidosis hereditary amyloidosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007101 MONDO:0100118 False familial primary localized cutaneous amyloidosis hereditary skin disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007102 MONDO:0003847 False amyotrophic dystonic paraplegia hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -15370,19 +21611,11 @@ MONDO:0007104 MONDO:0024237 False amyotrophic lateral sclerosis-parkinsonism-dem MONDO:0007105 MONDO:0030923 False frontotemporal dementia and/or amyotrophic lateral sclerosis 1 frontotemporal dementia and/or amyotrophic lateral sclerosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0007106 MONDO:0003847 False anal sphincter dysplasia hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007107 MONDO:0003847 False anal sphincter myopathy, internal hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007108 MONDO:0000405 False anal canal carcinoma anal canal cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0007108 MONDO:0018516 False anal canal carcinoma epithelial tumor of anal canal UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007109 MONDO:0000577 False congenital dyserythropoietic anemia type 3 congenital anemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007112 MONDO:0019512 False interventricular septum aneurysm congenital heart malformation UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007113 MONDO:0003847 False Angelman syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0007113 MONDO:0005071 False Angelman syndrome nervous system disorder UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0007114 MONDO:0019695 False Angel-shaped phalango-epiphyseal dysplasia acromelic dysplasia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007115 MONDO:0019803 False angioma serpiginosum, autosomal dominant angioma serpiginosum UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007116 MONDO:0019755 False hereditary neurocutaneous angioma developmental defect during embryogenesis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007116 MONDO:0024296 False hereditary neurocutaneous angioma vascular neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007118 MONDO:0006527 False isolated anhidrosis with normal sweat glands anhidrosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0007118 MONDO:0019296 False isolated anhidrosis with normal sweat glands subcutaneous tissue disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007118 MONDO:0021154 False isolated anhidrosis with normal sweat glands dermis disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007118 MONDO:0100118 False isolated anhidrosis with normal sweat glands hereditary skin disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007119 MONDO:0003847 False isolated aniridia hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007119 MONDO:0019172 False isolated aniridia aniridia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -15391,124 +21624,74 @@ MONDO:0007120 MONDO:0003847 False aniridia-absent patella syndrome hereditary di MONDO:0007121 MONDO:0003847 False aniridia, microcornea, and spontaneously Reabsorbed cataract hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007122 MONDO:0003847 False anisocoria hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007123 MONDO:0002254 False ankyloblepharon filiforme adnatum-cleft palate syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007124 MONDO:0018234 False ankyloblepharon-ectodermal defects-cleft lip/palate syndrome dysostosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0007124 MONDO:0019054 False ankyloblepharon-ectodermal defects-cleft lip/palate syndrome congenital limb malformation UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007124 MONDO:0019287 False ankyloblepharon-ectodermal defects-cleft lip/palate syndrome ectodermal dysplasia syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS -MONDO:0007125 MONDO:0001165 False ankyloglossia tongue disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0007125 MONDO:0003847 False ankyloglossia hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0007127 MONDO:0002185 False diffuse idiopathic skeletal hyperostosis hyperostosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0007127 MONDO:0003847 False diffuse idiopathic skeletal hyperostosis hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0007127 MONDO:0700007 False diffuse idiopathic skeletal hyperostosis idiopathic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007128 MONDO:0003847 False annular erythema hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007130 MONDO:0017705 False congenital total pulmonary venous return anomaly congenital pulmonary venous return anomaly UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007131 MONDO:0019287 False anonychia with flexural pigmentation ectodermal dysplasia syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0007132 MONDO:0003847 False anonychia-ectrodactyly hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007133 MONDO:0003847 False anonychia-onychodystrophy with brachydactyly type b and ectrodactyly hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007134 MONDO:0018234 False Cooks syndrome dysostosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007134 MONDO:0019054 False Cooks syndrome congenital limb malformation UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007134 MONDO:0021004 False Cooks syndrome brachydactyly UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007135 MONDO:0019211 False nonsyndromic congenital nail disorder 6 isolated congenital anonychia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007136 MONDO:0019938 False hereditary anorectal anomalies anorectal malformation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007137 MONDO:0010528 False isolated congenital anosmia anosmia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007137 MONDO:0018751 False isolated congenital anosmia hereditary otorhinolaryngologic disease UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007142 MONDO:0000426 False Townes-Brocks syndrome autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0007142 MONDO:0015161 False Townes-Brocks syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007142 MONDO:0019054 False Townes-Brocks syndrome congenital limb malformation UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007143 MONDO:0015159 False aortic arch anomaly-facial dysmorphism-intellectual disability syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007144 MONDO:0003847 False aortic arch interruption, facial palsy, and retinal coloboma hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007145 MONDO:0019294 False aplasia cutis congenita mixed dermis disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007145 MONDO:0100118 False aplasia cutis congenita hereditary skin disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007147 MONDO:0002254 False obstructive sleep apnea syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0007148 MONDO:0020573 False appendicitis, proneness to inherited disease susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007150 MONDO:0001515 False arcus senilis corneal degeneration UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0007150 MONDO:0003847 False arcus senilis hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0007151 MONDO:0003847 False arms, malformation of hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007153 MONDO:0003847 False arteries, anomalies of hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007154 MONDO:0001256 False arteriovenous malformations of the brain arteriovenous hemangioma/malformation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0007154 MONDO:0003847 False arteriovenous malformations of the brain hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0007155 MONDO:0003847 False arteritis, familial granulomatous, with juvenile polyarthritis hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007156 MONDO:0003847 False arthritis, sacroiliac hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007157 MONDO:0015240 False arthrogryposis, distal, type 1A digitotalar dysmorphism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0007160 MONDO:0022800 False Stickler syndrome type 1 type 2 collagenopathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007162 MONDO:0003847 False asymmetric short stature syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007163 MONDO:0100254 False episodic ataxia type 2 CACNA1A-related complex neurodevelopmental disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007164 MONDO:0017846 False spastic ataxia 1 autosomal dominant spastic ataxia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007165 MONDO:0017846 False spastic ataxia 7 autosomal dominant spastic ataxia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007166 MONDO:0100309 False ataxia with fasciculations hereditary ataxia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007167 MONDO:0019690 False atelosteogenesis type I filamin-related bone disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007168 MONDO:0019690 False atelosteogenesis type III filamin-related bone disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007169 MONDO:0020573 False atherosclerosis susceptibility inherited disease susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007170 MONDO:0024623 False atresia of external auditory canal and conductive deafness otorhinolaryngologic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007171 MONDO:0015281 False atrial standstill 1 atrial standstill UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007174 MONDO:0002254 False Lown-Ganong-Levine syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0007175 MONDO:0003847 False PR interval, variation in hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007176 MONDO:0019118 False helicoid peripapillary chorioretinal degeneration inherited retinal dystrophy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0007177 MONDO:0002081 False auriculoosteodysplasia musculoskeletal system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007178 MONDO:0003847 False aurocephalosyndactyly hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007180 MONDO:0003847 False Axenfeld-Rieger anomaly with partially absent eye muscles, distinctive face, hydrocephaly, and skeletal abnormalities hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007181 MONDO:0042973 False axial osteomalacia familial osteosclerosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007182 MONDO:0015548 False Machado-Joseph disease Huntington disease-like syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007182 MONDO:0019792 False Machado-Joseph disease autosomal dominant cerebellar ataxia type I UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007183 MONDO:0003847 False azotemia, familial hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007184 MONDO:0005339 False alopecia, androgenetic, 1 androgenetic alopecia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007185 MONDO:0001411 False Banki syndrome synostosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007186 MONDO:0003749 False gastroesophageal reflux disease esophageal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0007186 MONDO:0003847 False gastroesophageal reflux disease hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0007186 MONDO:0004298 False gastroesophageal reflux disease stomach disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0007187 MONDO:0000426 False nevoid basal cell carcinoma syndrome autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0007187 MONDO:0019755 False nevoid basal cell carcinoma syndrome developmental defect during embryogenesis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007187 MONDO:0042983 False nevoid basal cell carcinoma syndrome neurocutaneous syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007188 MONDO:0005172 False primary basilar invagination skeletal system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007188 MONDO:0021147 False primary basilar invagination disorder of development or morphogenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007190 MONDO:0015356 False leukemia, chronic lymphocytic, susceptibility to, 2 hereditary neoplastic syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007191 MONDO:0002254 False Behcet disease syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0007191 MONDO:0019293 False Behcet disease skin vascular disease UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0007192 MONDO:0003847 False beta-amino acids, renal transport of hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007194 MONDO:0003803 False familial bicuspid aortic valve aortic valve disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0007194 MONDO:0003847 False familial bicuspid aortic valve hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0007194 MONDO:0021147 False familial bicuspid aortic valve disorder of development or morphogenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007195 MONDO:0000110 False bifid nose, autosomal dominant bifid nose UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007197 MONDO:0003847 False bladder diverticulum hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0007197 MONDO:0006026 False bladder diverticulum urinary bladder disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0007198 MONDO:0015161 False Ascher syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007199 MONDO:0003847 False blepharochalasis, superior hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007200 MONDO:0015159 False blepharonasofacial malformation syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007201 MONDO:0000426 False blepharophimosis, ptosis, and epicanthus inversus syndrome autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0007201 MONDO:0008537 False blepharophimosis, ptosis, and epicanthus inversus syndrome telecanthus UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0007201 MONDO:0019852 False blepharophimosis, ptosis, and epicanthus inversus syndrome inherited primary ovarian failure UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0007202 MONDO:0001176 False blepharoptosis-myopia-ectopia lentis syndrome lens disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007203 MONDO:0015356 False blue rubber bleb nevus hereditary neoplastic syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007203 MONDO:0019293 False blue rubber bleb nevus skin vascular disease UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007203 MONDO:0100118 False blue rubber bleb nevus hereditary skin disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007204 MONDO:0800064 False Cole-Carpenter syndrome 1 osteogenesis imperfecta and a reduction of bone mineral density. UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007205 MONDO:0018230 False diaphyseal medullary stenosis-bone malignancy syndrome skeletal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007205 MONDO:0019060 False diaphyseal medullary stenosis-bone malignancy syndrome bone neoplasm UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007205 MONDO:0023603 False diaphyseal medullary stenosis-bone malignancy syndrome hereditary disorder of connective tissue UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007205 MONDO:0800159 False diaphyseal medullary stenosis-bone malignancy syndrome disorder of polyamine metabolism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007206 MONDO:0003847 False bone pain, periodic hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007207 MONDO:0019287 False Böök syndrome ectodermal dysplasia syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING -MONDO:0007208 MONDO:0005516 False Boomerang dysplasia osteochondrodysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0007208 MONDO:0019690 False Boomerang dysplasia filamin-related bone disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007209 MONDO:0019698 False Weismann-Netter syndrome bent bone dysplasia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007210 MONDO:0003847 False Brachmann-de Lange-like facial changes with microcephaly, metatarsus adductus, and developmental delay hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007211 MONDO:0002254 False brachydactyly-arterial hypertension syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0007211 MONDO:0018234 False brachydactyly-arterial hypertension syndrome dysostosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0007211 MONDO:0019054 False brachydactyly-arterial hypertension syndrome congenital limb malformation UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007211 MONDO:0021004 False brachydactyly-arterial hypertension syndrome brachydactyly UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0007212 MONDO:0016432 False brachydactyly-long thumb syndrome heart-hand syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007213 MONDO:0021004 False Ballard syndrome brachydactyly UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0007214 MONDO:0019054 False brachydactyly-preaxial hallux varus syndrome congenital limb malformation UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007215 MONDO:0021004 False brachydactyly type A1 brachydactyly UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0007216 MONDO:0002254 False brachydactyly type A2 syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0007216 MONDO:0021004 False brachydactyly type A2 brachydactyly UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0007217 MONDO:0021004 False brachydactyly type A3 brachydactyly UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0007218 MONDO:0021004 False brachydactyly type A4 brachydactyly UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0007219 MONDO:0021004 False Osebold-Remondini syndrome brachydactyly UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0007220 MONDO:0019676 False brachydactyly type B1 brachydactyly type B UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007221 MONDO:0021004 False brachydactyly type C brachydactyly UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0007222 MONDO:0021004 False brachydactyly type D brachydactyly UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0007223 MONDO:0019677 False brachydactyly type E1 brachydactyly type E UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007224 MONDO:0019677 False brachydactyly, type E, with atrial septal defect, type 2 brachydactyly type E UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007225 MONDO:0002254 False fibular aplasia-ectrodactyly syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007225 MONDO:0018230 False fibular aplasia-ectrodactyly syndrome skeletal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007225 MONDO:0018234 False fibular aplasia-ectrodactyly syndrome dysostosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007225 MONDO:0019054 False fibular aplasia-ectrodactyly syndrome congenital limb malformation UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007226 MONDO:0002254 False brachydactyly-nystagmus-cerebellar ataxia syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007226 MONDO:0015159 False brachydactyly-nystagmus-cerebellar ataxia syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007227 MONDO:0002254 False Sillence syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007228 MONDO:0003847 False brachymesomelia-renal syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007229 MONDO:0003847 False Brachymetatarsus 4 hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -15516,67 +21699,45 @@ MONDO:0007230 MONDO:0002254 False Brachymorphism-onychodysplasia-dysphalangism s MONDO:0007230 MONDO:0003847 False Brachymorphism-onychodysplasia-dysphalangism syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007230 MONDO:0005172 False Brachymorphism-onychodysplasia-dysphalangism syndrome skeletal system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007230 MONDO:0015160 False Brachymorphism-onychodysplasia-dysphalangism syndrome multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007230 MONDO:0019054 False Brachymorphism-onychodysplasia-dysphalangism syndrome congenital limb malformation UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007231 MONDO:0002254 False brachytelephalangy-dysmorphism-Kallmann syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007231 MONDO:0015161 False brachytelephalangy-dysmorphism-Kallmann syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007231 MONDO:0015770 False brachytelephalangy-dysmorphism-Kallmann syndrome congenital hypogonadotropic hypogonadism UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007231 MONDO:0018234 False brachytelephalangy-dysmorphism-Kallmann syndrome dysostosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007231 MONDO:0019054 False brachytelephalangy-dysmorphism-Kallmann syndrome congenital limb malformation UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007232 MONDO:0000426 False autosomal dominant brachyolmia autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007232 MONDO:0015262 False autosomal dominant brachyolmia brachyolmia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007232 MONDO:0018240 False autosomal dominant brachyolmia TRPV4-related bone disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007233 MONDO:0015476 False second branchial cleft anomaly cysts and fistulae of the face and oral cavity UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007233 MONDO:0018751 False second branchial cleft anomaly hereditary otorhinolaryngologic disease UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007234 MONDO:0003847 False branchial myoclonus with spastic paraparesis and cerebellar ataxia hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007235 MONDO:0000426 False branchiooculofacial syndrome autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0007235 MONDO:0015161 False branchiooculofacial syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007236 MONDO:0007029 False branchiootorenal syndrome 1 branchio-oto-renal syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0007237 MONDO:0002657 False familial juvenile hypertrophy of the breast breast disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007237 MONDO:0003847 False familial juvenile hypertrophy of the breast hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007238 MONDO:0015855 False amastia isolated congenital breast hypoplasia/aplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007239 MONDO:0017266 False epidermolytic ichthyosis keratinopathic ichthyosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007240 MONDO:0005449 False progressive familial heart block, type 1A conduction system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007240 MONDO:0007263 False progressive familial heart block, type 1A cardiac rhythm disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007241 MONDO:0003847 False bundle branch block, familial isolated complete right hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007242 MONDO:0003847 False butyrylesterase 1 hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007243 MONDO:0003847 False Burkitt lymphoma hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0007243 MONDO:0017343 False Burkitt lymphoma Epstein-Barr virus-associated malignant lymphoproliferative disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007244 MONDO:0002614 False Caffey disease bone inflammation disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0007244 MONDO:0019702 False Caffey disease neonatal osteosclerotic dysplasia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007245 MONDO:0019289 False cafe au lait spots, multiple hyperpigmentation of the skin UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007244 MONDO:0002185 False Caffey disease hyperostosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0007246 MONDO:0003847 False calcific aortic disease with immunologic abnormalities, familial hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007247 MONDO:0008947 False basal ganglia calcification, idiopathic, childhood-onset bilateral striopallidodentate calcinosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0007247 MONDO:0018866 False basal ganglia calcification, idiopathic, childhood-onset Aicardi-Goutieres syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0007247 MONDO:0700007 False basal ganglia calcification, idiopathic, childhood-onset idiopathic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007248 MONDO:0017672 False hereditary painful callosities focal palmoplantar keratoderma UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007249 MONDO:0021004 False camptobrachydactyly brachydactyly UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007250 MONDO:0021147 False camptodactyly of fingers disorder of development or morphogenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007251 MONDO:0005151 False campomelic dysplasia endocrine system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0007251 MONDO:0005516 False campomelic dysplasia osteochondrodysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0007251 MONDO:0015160 False campomelic dysplasia multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007251 MONDO:0019698 False campomelic dysplasia bent bone dysplasia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007252 MONDO:0015161 False Gordon syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007253 MONDO:0003847 False cancer, familial, with in vitro Radioresistance hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007254 MONDO:0003274 False breast cancer thoracic cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0007258 MONDO:0003847 False canine teeth, absence of upper permanent hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007259 MONDO:0015159 False craniofaciofrontodigital syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007259 MONDO:0100237 False craniofaciofrontodigital syndrome inherited cutis laxa UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0007260 MONDO:0003847 False Car factor deficiency hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007261 MONDO:0003847 False Carabelli anomaly of maxillary molar teeth hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007263 MONDO:0005267 False cardiac rhythm disease heart disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007269 MONDO:0002254 False dilated cardiomyopathy 1A syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0007271 MONDO:0021154 False familial cutaneous collagenoma dermis disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007272 MONDO:0017758 False hereditary hypercarotenemia and vitamin A deficiency disorder of vitamin and non-protein cofactor absorption and transport UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007273 MONDO:0002714 False paragangliomas 4 central nervous system cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007273 MONDO:0002817 False paragangliomas 4 adrenal gland cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007273 MONDO:0006295 False paragangliomas 4 malignant urinary system neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007273 MONDO:0017366 False paragangliomas 4 hereditary pheochromocytoma-paraganglioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007273 MONDO:0021089 False paragangliomas 4 peripheral nervous system cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007274 MONDO:0003847 False carpal displacement hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007275 MONDO:0003615 False carpal tunnel syndrome nerve compression syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0007275 MONDO:0020127 False carpal tunnel syndrome hereditary peripheral neuropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007276 MONDO:0002254 False cat-eye syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007276 MONDO:0003847 False cat-eye syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007277 MONDO:0000426 False cataract-aberrant oral frenula-growth delay syndrome autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007277 MONDO:0015161 False cataract-aberrant oral frenula-growth delay syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007278 MONDO:0011060 False cataract 32 multiple types early-onset non-syndromic cataract UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0007279 MONDO:0020374 False cataract 7 cerulean cataract UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007280 MONDO:0011060 False cataract 8 multiple types early-onset non-syndromic cataract UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING @@ -15587,16 +21748,10 @@ MONDO:0007287 MONDO:0020376 False cataract 41 early-onset nuclear cataract UNSUP MONDO:0007288 MONDO:0011060 False cataract 6 multiple types early-onset non-syndromic cataract UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0007289 MONDO:0011060 False cataract 13 with adult I phenotype early-onset non-syndromic cataract UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0007290 MONDO:0011060 False cataract 5 multiple types early-onset non-syndromic cataract UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0007294 MONDO:0018943 False central core myopathy myofibrillar myopathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS MONDO:0007294 MONDO:0100150 False central core myopathy RYR1-related myopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007294 MONDO:0100196 False central core myopathy TPM2-related myopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007295 MONDO:0000414 False childhood epilepsy with centrotemporal spikes childhood electroclinical syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0007295 MONDO:0017704 False childhood epilepsy with centrotemporal spikes familial partial epilepsy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007296 MONDO:0019793 False spinocerebellar ataxia type 31 autosomal dominant cerebellar ataxia type III UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007297 MONDO:0005620 False ADan amyloidosis cerebral amyloid angiopathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0007297 MONDO:0018591 False ADan amyloidosis ITM2B amyloidosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007298 MONDO:0019792 False spinocerebellar ataxia type 29 autosomal dominant cerebellar ataxia type I UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007300 MONDO:0002216 False cerebral sarcoma brain sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007301 MONDO:0002254 False cerebrocostomandibular syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0007301 MONDO:0015160 False cerebrocostomandibular syndrome multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007301 MONDO:0018230 False cerebrocostomandibular syndrome skeletal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007302 MONDO:0003847 False cervical hypertrichosis with underlying kyphoscoliosis hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -15605,66 +21760,44 @@ MONDO:0007303 MONDO:0005381 False cervical rib disease bone disorder UNSUPPORTED MONDO:0007304 MONDO:0003847 False cervical vertebral Bridge hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007305 MONDO:0003847 False cervical vertebral dysplasia hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007307 MONDO:0011909 False Charcot-Marie-Tooth disease type 1B Charcot-Marie-Tooth disease dominant intermediate D UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS -MONDO:0007307 MONDO:0019011 False Charcot-Marie-Tooth disease type 1B Charcot-Marie-Tooth disease type 1 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0007308 MONDO:0018993 False Charcot-Marie-Tooth disease type 2A1 Charcot-Marie-Tooth disease type 2 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0007309 MONDO:0016950 False Charcot-Marie-Tooth disease type 1A partial duplication of the short arm of chromosome 17 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007309 MONDO:0019011 False Charcot-Marie-Tooth disease type 1A Charcot-Marie-Tooth disease type 1 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0007310 MONDO:0015626 False Charcot-Marie-Tooth disease, Guadalajara neuronal type Charcot-Marie-Tooth disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING -MONDO:0007311 MONDO:0019011 False Charcot-Marie-Tooth disease type 1E Charcot-Marie-Tooth disease type 1 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0007312 MONDO:0015626 False Charcot-Marie-Tooth disease with ptosis and parkinsonism Charcot-Marie-Tooth disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0007313 MONDO:0005093 False cheilitis glandularis skin disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007314 MONDO:0003847 False chemodectoma, intraabdominal, with cutaneous angiolipomas hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007315 MONDO:0000426 False cherubism autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0007315 MONDO:0005172 False cherubism skeletal system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007315 MONDO:0015161 False cherubism multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007315 MONDO:0019751 False cherubism autoinflammatory syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007315 MONDO:0015356 False cherubism hereditary neoplastic syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007315 MONDO:0023603 False cherubism hereditary disorder of connective tissue UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007316 MONDO:0000115 False Chiari malformation type I Chiari malformation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007316 MONDO:0018075 False Chiari malformation type I neural tube defect UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007318 MONDO:0002254 False Alagille syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0007318 MONDO:0003847 False Alagille syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0007318 MONDO:0004868 False Alagille syndrome biliary tract disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0007318 MONDO:0005267 False Alagille syndrome heart disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0007318 MONDO:0005328 False Alagille syndrome eye disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0007318 MONDO:0015161 False Alagille syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007319 MONDO:0001314 False chondrocalcinosis 2 chondrocalcinosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007319 MONDO:0005554 False chondrocalcinosis 2 rheumatic disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007319 MONDO:0019052 False chondrocalcinosis 2 inborn errors of metabolism UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007319 MONDO:0023603 False chondrocalcinosis 2 hereditary disorder of connective tissue UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007319 MONDO:0800096 False chondrocalcinosis 2 abnormal mineralization disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007320 MONDO:0001314 False chondrocalcinosis due to apatite crystal deposition chondrocalcinosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007321 MONDO:0000426 False autosomal dominant chondrodysplasia punctata autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0007321 MONDO:0002254 False autosomal dominant chondrodysplasia punctata syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0007321 MONDO:0015775 False autosomal dominant chondrodysplasia punctata non-rhizomelic chondrodysplasia punctata UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007322 MONDO:0007321 False chondrodysplasia punctata, tibial-metacarpal type autosomal dominant chondrodysplasia punctata UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0007323 MONDO:0003847 False Chondronectin hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007325 MONDO:0001595 False choreoathetosis, familial inverted choreatic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007325 MONDO:0003847 False choreoathetosis, familial inverted hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007327 MONDO:0018637 False chylomicronemia, familial, due to circulating inhibitor of lipoprotein lipase familial chylomicronemia syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0007328 MONDO:0003847 False choroidal osteoma, bilateral hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007329 MONDO:0003847 False cirrhosis, familial hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007329 MONDO:0005155 False cirrhosis, familial cirrhosis of liver UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007329 MONDO:0100137 False cirrhosis, familial telomere syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007330 MONDO:0003847 False congenital pseudoarthrosis of clavicle hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007330 MONDO:0018234 False congenital pseudoarthrosis of clavicle dysostosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007332 MONDO:0018050 False split-hand/foot malformation with long bone deficiency 1 tibial aplasia-ectrodactyly syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007333 MONDO:0003847 False van der Woude syndrome 1 hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007333 MONDO:0019508 False van der Woude syndrome 1 van der Woude syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007334 MONDO:0000426 False autosomal dominant popliteal pterygium syndrome autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007334 MONDO:0015160 False autosomal dominant popliteal pterygium syndrome multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007334 MONDO:0017435 False autosomal dominant popliteal pterygium syndrome popliteal pterygium syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007336 MONDO:0016064 False isolated cleft palate cleft palate UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0007337 MONDO:0015161 False cleft palate-lateral synechia syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007338 MONDO:0016064 False cleft soft palate cleft palate UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0007339 MONDO:0000426 False blepharocheilodontic syndrome autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0007339 MONDO:0015161 False blepharocheilodontic syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007339 MONDO:0019287 False blepharocheilodontic syndrome ectodermal dysplasia syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS -MONDO:0007339 MONDO:0020161 False blepharocheilodontic syndrome congenital ectropion UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007340 MONDO:0005516 False cleidocranial dysplasia 1 osteochondrodysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0007340 MONDO:0018230 False cleidocranial dysplasia 1 skeletal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007340 MONDO:0002254 False cleidocranial dysplasia 1 syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0007341 MONDO:0002254 False cleidorhizomelic syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007341 MONDO:0018230 False cleidorhizomelic syndrome skeletal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007342 MONDO:0016046 False clubfoot familial clubfoot with or without associated lower limb anomalies UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007342 MONDO:0019713 False clubfoot non-syndromic limb reduction defect UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007343 MONDO:0019284 False isolated congenital digital clubbing inherited isolated nail anomaly UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0007343 MONDO:0021147 False isolated congenital digital clubbing disorder of development or morphogenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007344 MONDO:0003847 False cluster headache, familial hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007344 MONDO:0043537 False cluster headache, familial cluster headache syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -15675,14 +21808,9 @@ MONDO:0007346 MONDO:0002254 False cochleosaccular degeneration-cataract syndrome MONDO:0007350 MONDO:0001476 False coloboma, ocular, autosomal dominant coloboma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007351 MONDO:0001476 False coloboma of macula coloboma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007351 MONDO:0020242 False coloboma of macula hereditary macular dystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007352 MONDO:0000426 False renal coloboma syndrome autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0007353 MONDO:0020242 False coloboma of macula-brachydactyly type B syndrome hereditary macular dystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007354 MONDO:0001476 False coloboma of optic nerve coloboma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0007354 MONDO:0001834 False coloboma of optic nerve visual pathway disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0007354 MONDO:0003847 False coloboma of optic nerve hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0007355 MONDO:0003847 False uveal coloboma-cleft lip and palate-intellectual disability hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0007355 MONDO:0015159 False uveal coloboma-cleft lip and palate-intellectual disability multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007356 MONDO:0000426 False Lynch syndrome 1 autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0007357 MONDO:0003847 False colonic varices without portal hypertension hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007358 MONDO:0003847 False comedones, familial Dyskeratotic hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007359 MONDO:0003847 False commissural lip pits hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -15691,89 +21819,49 @@ MONDO:0007361 MONDO:0000015 False C1 inhibitor deficiency classic complement ear MONDO:0007361 MONDO:0027749 False C1 inhibitor deficiency serpinopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007362 MONDO:0019200 False cone-rod dystrophy 2 retinitis pigmentosa UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS MONDO:0007363 MONDO:0002320 False congenital contractural arachnodactyly congenital nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0007363 MONDO:0017310 False congenital contractural arachnodactyly Marfan and Marfan-related disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007363 MONDO:0008779 False congenital contractural arachnodactyly arthrogryposis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007364 MONDO:0019942 False arthrogryposis, distal, type 2E distal arthrogryposis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING -MONDO:0007368 MONDO:0017762 False familial benign copper deficiency disorder of copper metabolism UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007369 MONDO:0002520 False hereditary coproporphyria hepatic porphyria UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0007369 MONDO:0800180 False hereditary coproporphyria CPOX-related hereditary coproporphyria UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007370 MONDO:0003847 False coracoclavicular joint, anomalous hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007371 MONDO:0003847 False cornea guttata with anterior polar cataracts hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007373 MONDO:0003847 False corneal degeneration, ribbonlike, with deafness hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007374 MONDO:0003847 False Schnyder corneal dystrophy hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0007374 MONDO:0020213 False Schnyder corneal dystrophy stromal corneal dystrophy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0007375 MONDO:0000763 False epithelial basement membrane dystrophy epithelial and subepithelial corneal dystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0007375 MONDO:0000764 False epithelial basement membrane dystrophy epithelial-stromal TGFBI dystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0007375 MONDO:0020212 False epithelial basement membrane dystrophy superficial corneal dystrophy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007376 MONDO:0003847 False fleck corneal dystrophy hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0007376 MONDO:0020213 False fleck corneal dystrophy stromal corneal dystrophy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0007377 MONDO:0000764 False granular corneal dystrophy type I epithelial-stromal TGFBI dystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0007377 MONDO:0020213 False granular corneal dystrophy type I stromal corneal dystrophy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0007379 MONDO:0000763 False Meesmann corneal dystrophy epithelial and subepithelial corneal dystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0007379 MONDO:0003847 False Meesmann corneal dystrophy hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0007379 MONDO:0020212 False Meesmann corneal dystrophy superficial corneal dystrophy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007380 MONDO:0000764 False lattice corneal dystrophy type I epithelial-stromal TGFBI dystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007380 MONDO:0004686 False lattice corneal dystrophy type I lattice corneal dystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007381 MONDO:0003847 False epithelial recurrent erosion dystrophy hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0007381 MONDO:0020212 False epithelial recurrent erosion dystrophy superficial corneal dystrophy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007382 MONDO:0015159 False Ramos-Arroyo syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007383 MONDO:0019287 False Stern-Lubinsky-Durrie syndrome ectodermal dysplasia syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0007383 MONDO:0024458 False Stern-Lubinsky-Durrie syndrome disorder of visual system UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007384 MONDO:0002320 False congenital trigeminal anesthesia congenital nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007384 MONDO:0020127 False congenital trigeminal anesthesia hereditary peripheral neuropathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007385 MONDO:0005385 False idiopathic spontaneous coronary artery dissection vascular disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007385 MONDO:0700007 False idiopathic spontaneous coronary artery dissection idiopathic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007387 MONDO:0019713 False Cornelia de Lange syndrome 1 non-syndromic limb reduction defect UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007388 MONDO:0015929 False congenitally short costocoracoid ligament thoracic malformation UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007390 MONDO:0003847 False coumarin resistance hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0007391 MONDO:0003847 False coxa vara hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007392 MONDO:0005381 False coxoauricular syndrome bone disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007393 MONDO:0003847 False cranioacrofacial syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007395 MONDO:0003847 False craniofacial-deafness-hand syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0007395 MONDO:0015161 False craniofacial-deafness-hand syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007396 MONDO:0002933 False dysostosis, Stanescu type osteosclerosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007398 MONDO:0003847 False craniorhiny hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007399 MONDO:0018971 False TWIST1-related craniosynostosis isolated oxycephaly UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007400 MONDO:0019796 False Jackson-Weiss syndrome acrocephalosyndactyly UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0007401 MONDO:0001150 False craniosynostosis-Dandy-Walker malformation-hydrocephalus syndrome hydrocephalus UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007401 MONDO:0015704 False craniosynostosis-Dandy-Walker malformation-hydrocephalus syndrome familial scaphocephaly syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007401 MONDO:0020022 False craniosynostosis-Dandy-Walker malformation-hydrocephalus syndrome central nervous system malformation UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007402 MONDO:0003847 False creatine phosphokinase, elevated serum hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007403 MONDO:0005357 False inherited Creutzfeldt-Jakob disease Creutzfeldt Jacob disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007403 MONDO:0005395 False inherited Creutzfeldt-Jakob disease movement disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007403 MONDO:0024237 False inherited Creutzfeldt-Jakob disease inherited neurodegenerative disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007404 MONDO:0016887 False Cri-du-chat syndrome partial deletion of the short arm of chromosome 5 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007405 MONDO:0015338 False Crouzon syndrome syndromic craniosynostosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007406 MONDO:0003847 False cryofibrinogenemia, familial primary hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007406 MONDO:0022904 False cryofibrinogenemia, familial primary cryofibrinogenemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007407 MONDO:0015491 False Cryoglobulinemic vasculitis immune complex mediated vasculitis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007408 MONDO:0003847 False cryptotia, familial hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007409 MONDO:0015161 False cryptomicrotia-brachydactyly-excess fingertip arch syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007410 MONDO:0020153 False isolated cryptophthalmia cryptophthalmia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0007411 MONDO:0019571 False cutis laxa, autosomal dominant 1 autosomal dominant cutis laxa UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0007412 MONDO:0000426 False Beare-Stevenson cutis gyrata syndrome autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0007412 MONDO:0015161 False Beare-Stevenson cutis gyrata syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007412 MONDO:0015338 False Beare-Stevenson cutis gyrata syndrome syndromic craniosynostosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007413 MONDO:0015161 False Cyprus facial-neuromusculoskeletal syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007413 MONDO:0020120 False Cyprus facial-neuromusculoskeletal syndrome skeletal muscle disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007414 MONDO:0002013 False Gorham-Stout disease lymphangioma UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007414 MONDO:0003157 False Gorham-Stout disease disappearing bone disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007414 MONDO:0005554 False Gorham-Stout disease rheumatic disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007414 MONDO:0700245 False Gorham-Stout disease syndromic disorder of cell proliferation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007416 MONDO:0005334 False Balkan nephropathy hereditary nephritis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007417 MONDO:0019268 False Darier disease epidermal disease UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007417 MONDO:0100118 False Darier disease hereditary skin disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007418 MONDO:0003847 False Darwinian tubercle of pinna hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007420 MONDO:0002051 False autosomal dominant deafness - onychodystrophy syndrome integumentary system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0007420 MONDO:0002254 False autosomal dominant deafness - onychodystrophy syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0007420 MONDO:0003847 False autosomal dominant deafness - onychodystrophy syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0007421 MONDO:0003847 False deafness-ear malformation-facial palsy syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007422 MONDO:0002051 False keratoderma hereditarium mutilans integumentary system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0007422 MONDO:0003847 False keratoderma hereditarium mutilans hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0007423 MONDO:0003847 False deafness, mid-tone neural hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007425 MONDO:0003847 False deafness, sensorineural, with peripheral neuropathy and arterial disease hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007426 MONDO:0003847 False deafness, unilateral hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007427 MONDO:0003847 False deafness with anhidrotic ectodermal dysplasia hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007428 MONDO:0015161 False deafness-craniofacial syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007429 MONDO:0014720 False optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy autosomal dominant optic atrophy plus syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007430 MONDO:0003847 False dens evaginatus hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007431 MONDO:0003847 False dens in dente and palatal invaginations hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -15781,44 +21869,28 @@ MONDO:0007432 MONDO:0002254 False cerebral arteriopathy with subcortical infarct MONDO:0007432 MONDO:0003847 False cerebral arteriopathy with subcortical infarcts and leukoencephalopathy hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0007432 MONDO:0005385 False cerebral arteriopathy with subcortical infarcts and leukoencephalopathy vascular disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0007433 MONDO:0003847 False dementia/parkinsonism with non-Alzheimer amyloid plaques hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007434 MONDO:0003847 False primary failure of tooth eruption hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0007435 MONDO:0015548 False dentatorubral-pallidoluysian atrophy Huntington disease-like syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007435 MONDO:0019794 False dentatorubral-pallidoluysian atrophy autosomal dominant cerebellar ataxia type IV UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007436 MONDO:0003847 False dentin dysplasia type I hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007436 MONDO:0015613 False dentin dysplasia type I dentin dysplasia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007437 MONDO:0003847 False dentin dysplasia type II hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007437 MONDO:0015613 False dentin dysplasia type II dentin dysplasia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007438 MONDO:0003847 False dentin dysplasia-sclerotic bones syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007439 MONDO:0003847 False deoxyribose-5-phosphate aldolase deficiency hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007440 MONDO:0003847 False major affective disorder 1 hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007440 MONDO:0004985 False major affective disorder 1 bipolar disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007441 MONDO:0003847 False dentinogenesis imperfecta type 2 hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007441 MONDO:0018849 False dentinogenesis imperfecta type 2 dentinogenesis imperfecta UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007442 MONDO:0003847 False dentinogenesis imperfecta type 3 hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007442 MONDO:0018849 False dentinogenesis imperfecta type 3 dentinogenesis imperfecta UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007443 MONDO:0018923 False congenital unilateral hypoplasia of depressor anguli oris 22q11.2 deletion syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007444 MONDO:0003847 False dermal Ridges, patternless hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007445 MONDO:0017666 False dermatopathia pigmentosa reticularis diffuse palmoplantar keratoderma UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007445 MONDO:0019287 False dermatopathia pigmentosa reticularis ectodermal dysplasia syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS -MONDO:0007445 MONDO:0019289 False dermatopathia pigmentosa reticularis hyperpigmentation of the skin UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007446 MONDO:0100118 False dermatosis papulosa nigra hereditary skin disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007447 MONDO:0000426 False autosomal dominant vibratory urticaria autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007447 MONDO:0006618 False autosomal dominant vibratory urticaria vibratory urticaria UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007447 MONDO:0100118 False autosomal dominant vibratory urticaria hereditary skin disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007448 MONDO:0006599 False familial dermatographia physical urticaria UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0007449 MONDO:0019287 False dermo-odonto dysplasia ectodermal dysplasia syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING -MONDO:0007450 MONDO:0000426 False neurohypophyseal diabetes insipidus autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0007450 MONDO:0003381 False neurohypophyseal diabetes insipidus pituitary gland disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0007450 MONDO:0015790 False neurohypophyseal diabetes insipidus central diabetes insipidus UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0007450 MONDO:0100191 False neurohypophyseal diabetes insipidus inherited kidney disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007451 MONDO:0016383 False diabetes insipidus, nephrogenic, autosomal nephrogenic diabetes insipidus UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0007454 MONDO:0010255 False type 1 diabetes mellitus 2 diabetes mellitus, insulin-dependent, X-linked, susceptibility to UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0007456 MONDO:0003847 False diarrhea, glucose-stimulated secretory, with common variable immunodeficiency hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007457 MONDO:0003847 False diastema, dental medial hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007458 MONDO:0015240 False digitotalar dysmorphism; ulnar drift, hereditary digitotalar dysmorphism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007459 MONDO:0003847 False dilution, pigmentary hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007460 MONDO:0003847 False discrimination, Two-point, reduction 1N hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007461 MONDO:0015161 False short stature-valvular heart disease-characteristic facies syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007462 MONDO:0020573 False multiple sclerosis, susceptibility to inherited disease susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007463 MONDO:0003847 False distal osteosclerosis hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007465 MONDO:0003847 False distichiasis with congenital anomalies of the heart and peripheral vasculature hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -15826,40 +21898,26 @@ MONDO:0007466 MONDO:0003847 False DNA, satellite, 3 hereditary disease UNSUPPORT MONDO:0007467 MONDO:0003847 False DNA, low-repetitive sequences of hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007469 MONDO:0003847 False double nail for fifth toe hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007470 MONDO:0800064 False calvarial doughnut lesions-bone fragility syndrome osteogenesis imperfecta and a reduction of bone mineral density. UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007471 MONDO:0006949 False Doyne honeycomb retinal dystrophy retinal drusen UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0007471 MONDO:0016420 False Doyne honeycomb retinal dystrophy familial flecked retinopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007472 MONDO:0001666 False basal laminar drusen retinal dystrophies primarily involving Bruch's membrane UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0007472 MONDO:0006949 False basal laminar drusen retinal drusen UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0007473 MONDO:0002254 False Duane retraction syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0007473 MONDO:0003847 False Duane retraction syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0007473 MONDO:0015083 False Duane retraction syndrome nuclear oculomotor paralysis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007474 MONDO:0003847 False duodenal ulcer due to antral G-cell hyperfunction hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007475 MONDO:0003847 False duodenal ulcer, hyperpepsinogenemic 1 hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007476 MONDO:0002531 False familial Dupuytren contracture skin neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007476 MONDO:0016037 False familial Dupuytren contracture superficial Fibromatosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007477 MONDO:0002254 False 3-M syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0007477 MONDO:0006025 False 3-M syndrome autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0007477 MONDO:0015161 False 3-M syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007478 MONDO:0000426 False autosomal dominant Kenny-Caffey syndrome autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0007479 MONDO:0003847 False dwarfism, Levi type hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007480 MONDO:0003847 False dwarfism with stiff joints and ocular abnormalities hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007481 MONDO:0005516 False Leri-Weill dyschondrosteosis osteochondrodysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0007481 MONDO:0018230 False Leri-Weill dyschondrosteosis skeletal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007482 MONDO:0002254 False dyschondrosteosis-nephritis syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007482 MONDO:0018230 False dyschondrosteosis-nephritis syndrome skeletal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007483 MONDO:0019289 False dyschromatosis symmetrica hereditaria hyperpigmentation of the skin UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007485 MONDO:0100137 False dyskeratosis congenita, autosomal dominant 1 telomere syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007486 MONDO:0020212 False hereditary benign intraepithelial dyskeratosis superficial corneal dystrophy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007486 MONDO:0002254 False hereditary benign intraepithelial dyskeratosis syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007487 MONDO:0020573 False dyslexia, susceptibility to, 1 inherited disease susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007488 MONDO:0000510 False Lewy body dementia synucleinopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0007488 MONDO:0015547 False Lewy body dementia hereditary dementia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007489 MONDO:0018230 False dysplasia epiphysealis hemimelica skeletal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007490 MONDO:0018230 False carpotarsal osteochondromatosis skeletal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007491 MONDO:0003847 False dystelephalangy hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007492 MONDO:0100016 False early-onset generalized limb-onset dystonia early-onset generalized dystonia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007493 MONDO:0015990 False torsion dystonia 4 focal, segmental or multifocal dystonia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007495 MONDO:0016812 False dystonia 5 dopa-responsive dystonia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007495 MONDO:0100184 False dystonia 5 GTP cyclohydrolase I deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007496 MONDO:0020065 False dystonia 12 combined dystonia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007496 MONDO:0021095 False dystonia 12 parkinsonian disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0007496 MONDO:0700002 False dystonia 12 ATP1A3-associated neurological disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007497 MONDO:0003847 False ear antitragus, tag at base of hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -15871,88 +21929,52 @@ MONDO:0007502 MONDO:0003847 False ear pits, posterior helical hereditary disease MONDO:0007503 MONDO:0010920 False ear without helix microtia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0007504 MONDO:0003847 False thickened earlobes-conductive deafness syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007505 MONDO:0003847 False earring holes, natural hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007507 MONDO:0019268 False absence of fingerprints-congenital milia syndrome epidermal disease UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007507 MONDO:0100118 False absence of fingerprints-congenital milia syndrome hereditary skin disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007508 MONDO:0000426 False Rapp-Hodgkin syndrome autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0007508 MONDO:0004747 False Rapp-Hodgkin syndrome cleft lip UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0007508 MONDO:0016064 False Rapp-Hodgkin syndrome cleft palate UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0007508 MONDO:0019287 False Rapp-Hodgkin syndrome ectodermal dysplasia syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS MONDO:0007509 MONDO:0015884 False ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant autosomal dominant hypohidrotic ectodermal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007510 MONDO:0017666 False Clouston syndrome diffuse palmoplantar keratoderma UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007511 MONDO:0019287 False ectodermal dysplasia, trichoodontoonychial type ectodermal dysplasia syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0007512 MONDO:0003847 False ectodermal dysplasia syndrome with distinctive facial appearance and preaxial polydactyly of feet hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007513 MONDO:0003847 False ectodermal dysplasia with adrenal cyst hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007514 MONDO:0003847 False ectopia lentis 1, isolated, autosomal dominant hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0007514 MONDO:0015998 False ectopia lentis 1, isolated, autosomal dominant isolated ectopia lentis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0007515 MONDO:0003847 False ectopia pupillae hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007516 MONDO:0003847 False ectrodactyly and ectodermal dysplasia without cleft lip/palate hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007517 MONDO:0003847 False ectrodactyly-cleft palate syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007518 MONDO:0003847 False edema, familial idiopathic, prepubertal hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007518 MONDO:0700007 False edema, familial idiopathic, prepubertal idiopathic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007519 MONDO:0043009 False Edinburgh malformation syndrome hereditary lethal multiple congenital anomalies/dysmorphic syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007520 MONDO:0010004 False ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 1 EEC syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS MONDO:0007522 MONDO:0000426 False Ehlers-Danlos syndrome, classic type autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007522 MONDO:0020066 False Ehlers-Danlos syndrome, classic type Ehlers-Danlos syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007524 MONDO:0000426 False autosomal dominant Ehlers-Danlos syndrome, vascular type autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0007524 MONDO:0017314 False autosomal dominant Ehlers-Danlos syndrome, vascular type Ehlers-Danlos syndrome, vascular type UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007526 MONDO:0015327 False Ehlers-Danlos syndrome, spondylodysplastic type developmental anomaly of metabolic origin UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007526 MONDO:0019052 False Ehlers-Danlos syndrome, spondylodysplastic type inborn errors of metabolism UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0007526 MONDO:0020066 False Ehlers-Danlos syndrome, spondylodysplastic type Ehlers-Danlos syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0007527 MONDO:0020066 False Ehlers-Danlos syndrome, periodontitis type Ehlers-Danlos syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007528 MONDO:0020066 False Ehlers-Danlos syndrome, autosomal dominant, type unspecified Ehlers-Danlos syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0007529 MONDO:0021154 False elastosis perforans serpiginosa dermis disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007530 MONDO:0003847 False electroencephalographic peculiarity: 14 and 6 per sec. positive spike phenomenon hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007531 MONDO:0003847 False electroencephalographic peculiarity: fronto-precentral beta wave groups hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007533 MONDO:0003689 False elliptocytosis 2 familial hemolytic anemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007533 MONDO:0017319 False elliptocytosis 2 hereditary elliptocytosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007534 MONDO:0019716 False Beckwith-Wiedemann syndrome overgrowth syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007534 MONDO:0024573 False Beckwith-Wiedemann syndrome familial hypertrophic cardiomyopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS MONDO:0007535 MONDO:0003847 False emphysema, hereditary pulmonary hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007535 MONDO:0004849 False emphysema, hereditary pulmonary pulmonary emphysema UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007537 MONDO:0003847 False lateral meningocele syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0007537 MONDO:0018075 False lateral meningocele syndrome neural tube defect UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0007536 MONDO:0004849 False congenital lobar emphysema pulmonary emphysema UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007539 MONDO:0002254 False encephalopathy, recurrent, of childhood syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007539 MONDO:0005560 False encephalopathy, recurrent, of childhood brain disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007539 MONDO:0100198 False encephalopathy, recurrent, of childhood Mendelian encephalopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007540 MONDO:0000426 False multiple endocrine neoplasia type 1 autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0007540 MONDO:0016365 False multiple endocrine neoplasia type 1 familial primary hyperparathyroidism UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007540 MONDO:0021227 False multiple endocrine neoplasia type 1 adrenal gland neoplasm UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007541 MONDO:0020573 False endometriosis, susceptibility to, 1 inherited disease susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007542 MONDO:0018230 False Camurati-Engelmann disease skeletal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007542 MONDO:0002254 False Camurati-Engelmann disease syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0007544 MONDO:0003847 False eosinophilia, familial hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007545 MONDO:0003847 False Eosinophilopenia hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007546 MONDO:0019452 False myeloproliferative disorder, chronic, with eosinophilia myeloproliferative neoplasm, unclassifiable UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007546 MONDO:0023603 False myeloproliferative disorder, chronic, with eosinophilia hereditary disorder of connective tissue UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007547 MONDO:0003847 False epidermoid cysts hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007548 MONDO:0006543 False transient bullous dermolysis of the newborn epidermolysis bullosa dystrophica UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0007549 MONDO:0006543 False generalized dominant dystrophic epidermolysis bullosa epidermolysis bullosa dystrophica UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0007552 MONDO:0006543 False pretibial dystrophic epidermolysis bullosa epidermolysis bullosa dystrophica UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0007553 MONDO:0003847 False epidermolysis bullosa with deficiency of galactosylhydroxylysyl glucosyltransferase hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007557 MONDO:0003847 False epidermolysis bullosa with congenital localized absence of skin and deformity of nails hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0007558 MONDO:0015650 False benign occipital epilepsy epilepsy syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007560 MONDO:0017768 False reading seizures reflex epilepsy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007562 MONDO:0016648 False multiple epiphyseal dysplasia, Beighton type multiple epiphyseal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS -MONDO:0007562 MONDO:0022800 False multiple epiphyseal dysplasia, Beighton type type 2 collagenopathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007565 MONDO:0011512 False familial cylindromatosis Brooke-Spiegler syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0007566 MONDO:0015356 False multiple self-healing squamous epithelioma hereditary neoplastic syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007569 MONDO:0003847 False erythema nodosum, familial hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007570 MONDO:0005093 False erythema palmare hereditarium skin disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007571 MONDO:0016028 False primary erythermalgia erythromelalgia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007573 MONDO:0015356 False erythroleukemia, familial, susceptibility to hereditary neoplastic syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007574 MONDO:0019270 False spinocerebellar ataxia type 34 erythrokeratoderma UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007574 MONDO:0019792 False spinocerebellar ataxia type 34 autosomal dominant cerebellar ataxia type I UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007574 MONDO:0100118 False spinocerebellar ataxia type 34 hereditary skin disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007576 MONDO:0003274 False esophageal cancer thoracic cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0007577 MONDO:0003847 False esophageal ring, lower hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007581 MONDO:0003847 False exchondrosis of pinna, posterior hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007584 MONDO:0003847 False exostoses-anetodermia-brachydactyly type E syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007585 MONDO:0005508 False exostoses, multiple, type 1 hereditary multiple osteochondromas UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING -MONDO:0007586 MONDO:0005508 False exostoses, multiple, type 2 hereditary multiple osteochondromas UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING -MONDO:0007587 MONDO:0015161 False external auditory canal atresia-vertical talus-hypertelorism syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007587 MONDO:0018234 False external auditory canal atresia-vertical talus-hypertelorism syndrome dysostosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007587 MONDO:0024623 False external auditory canal atresia-vertical talus-hypertelorism syndrome otorhinolaryngologic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007588 MONDO:0015159 False extrasystoles-short stature-hyperpigmentation-microcephaly syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007588 MONDO:0019289 False extrasystoles-short stature-hyperpigmentation-microcephaly syndrome hyperpigmentation of the skin UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007590 MONDO:0019716 False hemifacial hypertrophy overgrowth syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007592 MONDO:0020127 False familial recurrent peripheral facial palsy hereditary peripheral neuropathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007593 MONDO:0003847 False facial spasm hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007594 MONDO:0100240 False factor 5 excess with spontaneous thrombosis inherited thrombophilia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0007595 MONDO:0021181 False factor VII and Factor VIII, combined deficiency of inherited blood coagulation disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -15962,35 +21984,19 @@ MONDO:0007599 MONDO:0003847 False factor 9 and Factor XI, combined deficiency of MONDO:0007600 MONDO:0100238 False primary Fanconi syndrome inherited Fanconi renotubular syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007601 MONDO:0018088 False familial Mediterranean fever, autosomal dominant familial Mediterranean fever UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007603 MONDO:0008383 False Felty syndrome rheumatoid arthritis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS -MONDO:0007604 MONDO:0015161 False femoral-facial syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007604 MONDO:0018234 False femoral-facial syndrome dysostosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007604 MONDO:0019054 False femoral-facial syndrome congenital limb malformation UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007604 MONDO:0019713 False femoral-facial syndrome non-syndromic limb reduction defect UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007605 MONDO:0003847 False fibrinolytic defect hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007606 MONDO:0005172 False fibrodysplasia ossificans progressiva skeletal system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007606 MONDO:0019296 False fibrodysplasia ossificans progressiva subcutaneous tissue disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007608 MONDO:0023603 False desmoid tumor hereditary disorder of connective tissue UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007610 MONDO:0019280 False gingival fibromatosis-hypertrichosis syndrome hypertrichosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007610 MONDO:0019287 False gingival fibromatosis-hypertrichosis syndrome ectodermal dysplasia syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0007612 MONDO:0021147 False gingival fibromatosis-progressive deafness syndrome disorder of development or morphogenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007614 MONDO:0001584 False congenital fibrosis of extraocular muscles ocular motility disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0007614 MONDO:0004746 False congenital fibrosis of extraocular muscles myopathy of extraocular muscle UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0007614 MONDO:0016106 False congenital fibrosis of extraocular muscles progressive muscular dystrophy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007615 MONDO:0019054 False laurin-Sandrow syndrome congenital limb malformation UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007615 MONDO:0800066 False laurin-Sandrow syndrome polydactyly-syndactyly-triphalangism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007616 MONDO:0003847 False fibula, recurrent dislocation of head of hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007617 MONDO:0000426 False Coffin-Siris syndrome 1 autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0007617 MONDO:0700120 False Coffin-Siris syndrome 1 BAFopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007618 MONDO:0021147 False Eng-Strom syndrome disorder of development or morphogenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007619 MONDO:0000426 False isolated congenital adermatoglyphia autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0007619 MONDO:0100118 False isolated congenital adermatoglyphia hereditary skin disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007620 MONDO:0018999 False fish eye disease LCAT deficiency UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007620 MONDO:0019052 False fish eye disease inborn errors of metabolism UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007621 MONDO:0003847 False Floating-Harbor syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0007621 MONDO:0015159 False Floating-Harbor syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007623 MONDO:0003847 False flushing of ears and somnolence hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007624 MONDO:0000426 False Flynn-Aird syndrome autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007624 MONDO:0019303 False Flynn-Aird syndrome premature aging syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007625 MONDO:0003847 False focal epithelial hyperplasia of the oral mucosa hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007626 MONDO:0001146 False familial congenital palsy of trochlear nerve fourth cranial nerve palsy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007626 MONDO:0002320 False familial congenital palsy of trochlear nerve congenital nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -15998,37 +22004,30 @@ MONDO:0007626 MONDO:0003847 False familial congenital palsy of trochlear nerve h MONDO:0007626 MONDO:0015083 False familial congenital palsy of trochlear nerve nuclear oculomotor paralysis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007628 MONDO:0800183 False foveal hypoplasia 1 PAX6-related ocular dysgenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007629 MONDO:0003847 False fragile site 10Q23 hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007630 MONDO:0031166 False North Carolina macular dystrophy macular dystrophy, retinal UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING -MONDO:0007631 MONDO:0003847 False chromosome 16p12.1 deletion syndrome, 520kb hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0007631 MONDO:0002254 False chromosome 16p12.1 deletion syndrome, 520kb syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0007631 MONDO:0016894 False chromosome 16p12.1 deletion syndrome, 520kb partial deletion of the short arm of chromosome 16 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007633 MONDO:0003847 False Friedreich ataxia, so-called, with optic atrophy and sensorineural deafness hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007634 MONDO:0003847 False intellectual disability, FRA12A type hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007635 MONDO:0000426 False Frasier syndrome autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0007635 MONDO:0020040 False Frasier syndrome 46,XY disorder of sex development UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007638 MONDO:0003847 False fucosidase regulator hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007639 MONDO:0016420 False fundus albipunctatus familial flecked retinopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007639 MONDO:0100443 False fundus albipunctatus RDH5-related retinopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007639 MONDO:0100444 False fundus albipunctatus RLBP1-related retinopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007640 MONDO:0019118 False Sorsby fundus dystrophy inherited retinal dystrophy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0007642 MONDO:0004868 False isolated agenesis of gallbladder biliary tract disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007643 MONDO:0003847 False gamma-A-globulin, defect in assembly of hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007644 MONDO:0001341 False IgAD1 selective IgA deficiency disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007646 MONDO:0002254 False Gamstorp-Wohlfart syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0007646 MONDO:0003847 False Gamstorp-Wohlfart syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0007647 MONDO:0003847 False gastric volvulus, intrathoracic hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007648 MONDO:0018502 False hereditary diffuse gastric adenocarcinoma hereditary gastric cancer UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007650 MONDO:0003847 False MALT lymphoma hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0007651 MONDO:0019289 False gastrocutaneous syndrome hyperpigmentation of the skin UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007652 MONDO:0003847 False gastric mucosal hypertrophy hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0007653 MONDO:0018230 False genochondromatosis skeletal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007654 MONDO:0003847 False genu valgum, st. Helena familial hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007655 MONDO:0001165 False fissured tongue tongue disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0007656 MONDO:0003847 False Gerstmann-Straussler-Scheinker syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0007657 MONDO:0003847 False giant neutrophil leukocytes hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007660 MONDO:0002119 False familial ossifying fibroma ossifying fibroma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007660 MONDO:0023603 False familial ossifying fibroma hereditary disorder of connective tissue UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007661 MONDO:0002420 False Tourette syndrome tic disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0007661 MONDO:0002254 False Tourette syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0007661 MONDO:0003847 False Tourette syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0007661 MONDO:0005395 False Tourette syndrome movement disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0007662 MONDO:0019628 False anterior segment dysgenesis 4 Rieger anomaly UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007663 MONDO:0018174 False glaucoma with elevated episcleral venous pressure hereditary glaucoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007664 MONDO:0020367 False glaucoma 1, open angle, A juvenile open angle glaucoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -16036,12 +22035,9 @@ MONDO:0007666 MONDO:0002254 False glaucoma-sleep apnea syndrome syndromic diseas MONDO:0007666 MONDO:0005328 False glaucoma-sleep apnea syndrome eye disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007667 MONDO:0016697 False subependymoma low grade ependymoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007668 MONDO:0003847 False globulin anomaly involving beta (2A)-globulin hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007669 MONDO:0018911 False renal cysts and diabetes syndrome maturity-onset diabetes of the young UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS +MONDO:0007669 MONDO:0002254 False renal cysts and diabetes syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0007670 MONDO:0002254 False hypotrichosis-lymphedema-telangiectasia syndrome (grouping) syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007670 MONDO:0019175 False hypotrichosis-lymphedema-telangiectasia syndrome (grouping) primary lymphedema UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007671 MONDO:0019722 False fibronectin glomerulopathy glomerular disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007671 MONDO:0100191 False fibronectin glomerulopathy inherited kidney disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007672 MONDO:0003847 False glomuvenous malformation hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0007672 MONDO:0024291 False glomuvenous malformation vascular malformation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007673 MONDO:0003847 False Glucoglycinuria hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007674 MONDO:0003847 False glucose-6-phosphate dehydrogenase-like hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -16050,118 +22046,74 @@ MONDO:0007676 MONDO:0003847 False glutathione transferase activity toward trans- MONDO:0007677 MONDO:0002118 False hyperglycinuria urinary system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007677 MONDO:0003847 False hyperglycinuria hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007679 MONDO:0002254 False GMS syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007680 MONDO:0015161 False multinodular goiter-cystic kidney-polydactyly syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007681 MONDO:0015356 False goiter, multinodular 1, with or without Sertoli-Leydig cell tumors hereditary neoplastic syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007682 MONDO:0003847 False granddad syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007683 MONDO:0003847 False Grant syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007685 MONDO:0003847 False granulosis rubra nasi hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007686 MONDO:0020117 False gray platelet syndrome alpha granule disease UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007686 MONDO:0002254 False gray platelet syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0007687 MONDO:0003847 False graying of hair, precocious hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007688 MONDO:0000508 False Myhre syndrome syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007688 MONDO:0002320 False Myhre syndrome congenital nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007688 MONDO:0015159 False Myhre syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007688 MONDO:0019695 False Myhre syndrome acromelic dysplasia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007689 MONDO:0003847 False guanylate kinase 3 hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007690 MONDO:0005039 False aromatase excess syndrome reproductive system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0007690 MONDO:0019052 False aromatase excess syndrome inborn errors of metabolism UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0007691 MONDO:0003847 False Guillain-Barre syndrome, familial hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007691 MONDO:0016218 False Guillain-Barre syndrome, familial Guillain-Barre syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007693 MONDO:0019280 False hypertrichosis cubiti-short stature syndrome hypertrichosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007693 MONDO:0019287 False hypertrichosis cubiti-short stature syndrome ectodermal dysplasia syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0007694 MONDO:0003847 False hairy nose tip hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007695 MONDO:0003847 False hairy palms and soles hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007696 MONDO:0019054 False Emery-Nelson syndrome congenital limb malformation UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007697 MONDO:0003847 False hand clasping pattern hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007698 MONDO:0000426 False hand-foot-genital syndrome autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0007698 MONDO:0002254 False hand-foot-genital syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0007698 MONDO:0005039 False hand-foot-genital syndrome reproductive system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0007698 MONDO:0015161 False hand-foot-genital syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007698 MONDO:0018234 False hand-foot-genital syndrome dysostosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0007698 MONDO:0019054 False hand-foot-genital syndrome congenital limb malformation UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007699 MONDO:0003847 False Hashimoto thyroiditis hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0007699 MONDO:0005623 False Hashimoto thyroiditis autoimmune thyroid disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007700 MONDO:0017307 False hawkinsinuria disorder of tyrosine metabolism UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007702 MONDO:0007732 False heart-hand syndrome type 3 Holt-Oram syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0007704 MONDO:0020573 False osteoarthritis susceptibility 2 inherited disease susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007705 MONDO:0003664 False Heinz body anemia hemolytic anemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0007706 MONDO:0003847 False cavernous hemangiomas of face-supraumbilical midline raphe syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007707 MONDO:0006500 False hemangiomas of small intestine hemangioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007707 MONDO:0021501 False hemangiomas of small intestine benign neoplasm of small intestine UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007708 MONDO:0003847 False Kasabach-Merritt syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007709 MONDO:0003847 False hematuria, benign familial hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0007710 MONDO:0002098 False facial hemiatrophy facial nerve disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0007710 MONDO:0002254 False facial hemiatrophy syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0007711 MONDO:0002254 False Bencze syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007711 MONDO:0015161 False Bencze syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007712 MONDO:0003847 False oculoauriculovertebral spectrum with radial defects hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007712 MONDO:0015161 False oculoauriculovertebral spectrum with radial defects multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007712 MONDO:0018234 False oculoauriculovertebral spectrum with radial defects dysostosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007713 MONDO:0005395 False clonic hemifacial spasm movement disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007715 MONDO:0003847 False hemolytic poikilocytic anemia due to reduced ankyrin binding sites hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007716 MONDO:0002254 False alpha thalassemia-intellectual disability syndrome type 1 syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0007716 MONDO:0005570 False alpha thalassemia-intellectual disability syndrome type 1 hematologic disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0007716 MONDO:0016894 False alpha thalassemia-intellectual disability syndrome type 1 partial deletion of the short arm of chromosome 16 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007717 MONDO:0003847 False hemoglobin--variants for which the chain carrying the mutation 1S unknown or uncertain hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007718 MONDO:0003847 False hepatic adenomas, familial hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0007718 MONDO:0018902 False hepatic adenomas, familial hepatocellular adenoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0007719 MONDO:0005711 False diaphragmatic hernia 1 congenital diaphragmatic hernia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0007720 MONDO:0003847 False hernia, double inguinal hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007721 MONDO:0004298 False hiatus hernia stomach disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0007722 MONDO:0003847 False heterochromia iridis hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007723 MONDO:0100179 False Hirschsprung disease, susceptibility to, 1 Hirschsprung disease, susceptibility to UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007724 MONDO:0015159 False hirsutism-skeletal dysplasia-intellectual disability syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007725 MONDO:0015531 False hereditary progressive mucinous histiocytosis non-Langerhans cell histiocytosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007726 MONDO:0016761 False hip dysplasia, Beukes type spondyloepiphyseal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0007727 MONDO:0005046 False autosomal dominant familial periodic fever immune system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0007727 MONDO:0017953 False autosomal dominant familial periodic fever hereditary periodic fever syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007730 MONDO:0003847 False histiocytic dermatoarthritis hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007732 MONDO:0000426 False Holt-Oram syndrome autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0007732 MONDO:0005267 False Holt-Oram syndrome heart disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0007732 MONDO:0015161 False Holt-Oram syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007732 MONDO:0016432 False Holt-Oram syndrome heart-hand syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007732 MONDO:0019713 False Holt-Oram syndrome non-syndromic limb reduction defect UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007735 MONDO:0001294 False congenital Horner syndrome Horner syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007736 MONDO:0003847 False HPA 1 Recognition polymorphism, beta-globin-related hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007737 MONDO:0001411 False humeroradial synostosis synostosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0007737 MONDO:0003847 False humeroradial synostosis hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0007738 MONDO:0000226 False spondyloepiphyseal dysplasia with congenital joint dislocations mineral metabolism disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007738 MONDO:0016761 False spondyloepiphyseal dysplasia with congenital joint dislocations spondyloepiphyseal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0007738 MONDO:0019052 False spondyloepiphyseal dysplasia with congenital joint dislocations inborn errors of metabolism UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0007739 MONDO:0000167 False Huntington disease Huntington disease and related disorders UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007739 MONDO:0005395 False Huntington disease movement disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0007740 MONDO:0020248 False Wagner disease vitreoretinal degeneration UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007741 MONDO:0005510 False congenital hydronephrosis hydronephrosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007742 MONDO:0003847 False 5-hydroxytryptamine oxygenase regulator hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007743 MONDO:0000592 False attention deficit-hyperactivity disorder specific developmental disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007744 MONDO:0001336 False cholesterol-ester transfer protein deficiency familial hyperlipidemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0007744 MONDO:0015903 False cholesterol-ester transfer protein deficiency hyperalphalipoproteinemia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007745 MONDO:0002254 False Gilbert syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0007746 MONDO:0003847 False orthostatic hypotensive disorder, Streeten type hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007747 MONDO:0006025 False isolated hyperchlorhidrosis autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0007747 MONDO:0021026 False isolated hyperchlorhidrosis hereditary epidermal appendage anomaly UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007747 MONDO:0100118 False isolated hyperchlorhidrosis hereditary skin disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007748 MONDO:0002118 False hypercalciuria, absorptive, 2 urinary system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007748 MONDO:0003847 False hypercalciuria, absorptive, 2 hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007752 MONDO:0003847 False hyperheparinemia hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007753 MONDO:0001292 False Frey syndrome autonomic nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0007753 MONDO:0003847 False Frey syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0007754 MONDO:0003847 False hyperhidrosis palmaris ET plantaris hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007755 MONDO:0003847 False hyperimmunoglobulin G1(A1) syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007756 MONDO:0019268 False hyperkeratosis lenticularis perstans epidermal disease UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007757 MONDO:0000426 False hyperkeratosis-hyperpigmentation syndrome autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007757 MONDO:0019289 False hyperkeratosis-hyperpigmentation syndrome hyperpigmentation of the skin UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007757 MONDO:0100118 False hyperkeratosis-hyperpigmentation syndrome hereditary skin disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007758 MONDO:0017666 False epidermolytic palmoplantar keratoderma diffuse palmoplantar keratoderma UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007759 MONDO:0001336 False hyperlipidemia, familial combined, LPL related familial hyperlipidemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007760 MONDO:0003847 False hyperlipoproteinemia, type II, and deafness hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007762 MONDO:0001336 False hyperlipoproteinemia type V familial hyperlipidemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0007763 MONDO:0005086 False nonpapillary renal cell carcinoma renal cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0007764 MONDO:0002185 False autosomal dominant osteosclerosis, Worth type hyperostosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0007764 MONDO:0018230 False autosomal dominant osteosclerosis, Worth type skeletal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007765 MONDO:0003847 False hyperostosis cranialis interna hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007766 MONDO:0021147 False Morgagni-Stewart-Morel syndrome disorder of development or morphogenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007767 MONDO:0015027 False hyperparathyroidism 1 familial isolated hyperparathyroidism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007767 MONDO:0019060 False hyperparathyroidism 1 bone neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007767 MONDO:0023603 False hyperparathyroidism 1 hereditary disorder of connective tissue UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007767 MONDO:0800096 False hyperparathyroidism 1 abnormal mineralization disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007768 MONDO:0016365 False hyperparathyroidism 2 with jaw tumors familial primary hyperparathyroidism UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007768 MONDO:0019060 False hyperparathyroidism 2 with jaw tumors bone neoplasm UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007768 MONDO:0023603 False hyperparathyroidism 2 with jaw tumors hereditary disorder of connective tissue UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007768 MONDO:0800096 False hyperparathyroidism 2 with jaw tumors abnormal mineralization disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -16180,67 +22132,43 @@ MONDO:0007781 MONDO:0003847 False essential hypertension, genetic hereditary dis MONDO:0007781 MONDO:0020573 False essential hypertension, genetic inherited disease susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007782 MONDO:0003847 False hyperthermia, cutaneous, with headaches and nausea hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007784 MONDO:0001328 False selective pituitary resistance to thyroid hormone thyroid hormone resistance syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0007784 MONDO:0004425 False selective pituitary resistance to thyroid hormone hyperthyroidism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0007785 MONDO:0003847 False hyperthyroxinemia, dystransthyretinemic hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0007785 MONDO:0005333 False hyperthyroxinemia, dystransthyretinemic hyperthyroxinemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0007787 MONDO:0016381 False Ambras type hypertrichosis universalis congenita hypertrichosis lanuginosa congenita UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0007788 MONDO:0005347 False hypertriglyceridemia 1 hypertriglyceridemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007789 MONDO:0003847 False hypertrophia musculorum vera hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007791 MONDO:0800096 False familial hypocalciuric hypercalcemia 1 abnormal mineralization disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007793 MONDO:0019685 False hypochondroplasia FGFR3-related chondrodysplasia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007794 MONDO:0015770 False hypogonadotropic hypogonadism 7 with or without anosmia congenital hypogonadotropic hypogonadism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007795 MONDO:0002254 False mullerian duct anomalies-limb anomalies syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007795 MONDO:0005039 False mullerian duct anomalies-limb anomalies syndrome reproductive system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007795 MONDO:0015161 False mullerian duct anomalies-limb anomalies syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007797 MONDO:0003847 False hypoparathyroidism-deafness-renal disease syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0007797 MONDO:0016892 False hypoparathyroidism-deafness-renal disease syndrome partial deletion of the short arm of chromosome 10 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007797 MONDO:0002254 False hypoparathyroidism-deafness-renal disease syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0007799 MONDO:0003847 False hypophosphatemic bone disease hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007800 MONDO:0016880 False chromosome 18p deletion syndrome partial deletion of chromosome 18 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007803 MONDO:0000510 False multiple system atrophy synucleinopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0007800 MONDO:0002254 False chromosome 18p deletion syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0007803 MONDO:0005395 False multiple system atrophy movement disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0007804 MONDO:0015160 False Pallister-Hall syndrome multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007804 MONDO:0018762 False Pallister-Hall syndrome non-acquired combined pituitary hormone deficiency UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007804 MONDO:0800066 False Pallister-Hall syndrome polydactyly-syndactyly-triphalangism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007805 MONDO:0019575 False hypotrichosis 2 hypotrichosis simplex of the scalp UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007807 MONDO:0003847 False hypoxanthine guanine phosphoribosyltransferase suppressor hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007808 MONDO:0859383 False ichthyosis hystrix of Curth-Macklin ichthyosis hystrix UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING -MONDO:0007809 MONDO:0859383 False ichthyosis histrix, Lambert type ichthyosis hystrix UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING -MONDO:0007810 MONDO:0000426 False autosomal dominant ichthyosis vulgaris autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0007810 MONDO:0024304 False autosomal dominant ichthyosis vulgaris ichthyosis vulgaris UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007811 MONDO:0002254 False ichthyosis-cheek-eyebrow syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007811 MONDO:0003847 False ichthyosis-cheek-eyebrow syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007812 MONDO:0017778 False ichthyosis, lamellar, autosomal dominant lamellar ichthyosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007813 MONDO:0017266 False superficial epidermolytic ichthyosis keratinopathic ichthyosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007813 MONDO:0017339 False superficial epidermolytic ichthyosis exfoliative ichthyosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007814 MONDO:0015517 False immune deficiency, familial variable common variable immunodeficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0007817 MONDO:0004980 False IgE responsiveness, atopic atopic eczema UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING -MONDO:0007818 MONDO:0000426 False hyper-IgE recurrent infection syndrome 1, autosomal dominant autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0007819 MONDO:0007733 False solitary median maxillary central incisor syndrome holoprosencephaly 3 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0007819 MONDO:0017219 False solitary median maxillary central incisor syndrome microform holoprosencephaly UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007820 MONDO:0003847 False fused mandibular incisors hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007824 MONDO:0003847 False incisors, lower central, absence of hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007825 MONDO:0003847 False incisors, rotation of upper central hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007826 MONDO:0003847 False incisors, shovel-shaped hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007828 MONDO:0003847 False indifference to pain, congenital, autosomal dominant hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0007829 MONDO:0017290 False cholestasis, intrahepatic, of pregnancy, 1 familial intrahepatic cholestasis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007829 MONDO:0100429 False cholestasis, intrahepatic, of pregnancy, 1 intrahepatic cholestasis of pregnancy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0007830 MONDO:0003847 False insensitivity to pain with hyperplastic Myelinopathy hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007831 MONDO:0003847 False insect Stings, hypersensitivity to hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007832 MONDO:0003847 False interferon antiviral depressor hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007833 MONDO:0003847 False iris pigment layer, cleavage of hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007834 MONDO:0001933 False islet cell adenomatosis endocrine pancreas disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007834 MONDO:0003847 False islet cell adenomatosis hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007835 MONDO:0003847 False intussusception hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0007835 MONDO:0004565 False intussusception intestinal obstruction UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0007836 MONDO:0003847 False IVIC syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0007836 MONDO:0018234 False IVIC syndrome dysostosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0007836 MONDO:0019054 False IVIC syndrome congenital limb malformation UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007837 MONDO:0015159 False Johnson neuroectodermal syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007837 MONDO:0019287 False Johnson neuroectodermal syndrome ectodermal dysplasia syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING -MONDO:0007838 MONDO:0016910 False Jacobsen syndrome partial deletion of the long arm of chromosome 11 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007838 MONDO:0018795 False Jacobsen syndrome syndromic constitutional thrombocytopenia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007838 MONDO:0002254 False Jacobsen syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0007839 MONDO:0002320 False Aase-Smith syndrome congenital nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007839 MONDO:0015161 False Aase-Smith syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007839 MONDO:0020022 False Aase-Smith syndrome central nervous system malformation UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007840 MONDO:0003847 False internal carotid artery, spontaneous dissection of hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007841 MONDO:0018230 False coxopodopatellar syndrome skeletal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007842 MONDO:0020066 False joint laxity, familial Ehlers-Danlos syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING @@ -16250,115 +22178,69 @@ MONDO:0007845 MONDO:0015979 False Kaposi sarcoma, susceptibility to hereditary p MONDO:0007846 MONDO:0000508 False KBG syndrome syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0007846 MONDO:0002320 False KBG syndrome congenital nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0007846 MONDO:0003847 False KBG syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0007846 MONDO:0015159 False KBG syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007847 MONDO:0003847 False keloid formation hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007848 MONDO:0000426 False autosomal dominant keratitis autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0007848 MONDO:0003085 False autosomal dominant keratitis keratitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0007848 MONDO:0018102 False autosomal dominant keratitis corneal dystrophy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0007849 MONDO:0003847 False keratitis fugax hereditaria hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007850 MONDO:0000426 False autosomal dominant keratitis-ichthyosis-hearing loss syndrome autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0007852 MONDO:0017666 False palmoplantar keratoderma-deafness syndrome diffuse palmoplantar keratoderma UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007853 MONDO:0002254 False palmoplantar keratoderma-hereditary motor and sensory neuropathy syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007853 MONDO:0017666 False palmoplantar keratoderma-hereditary motor and sensory neuropathy syndrome diffuse palmoplantar keratoderma UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007854 MONDO:0019268 False keratolytic winter erythema epidermal disease UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007855 MONDO:0003847 False keratosis, familial actinic hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007856 MONDO:0002254 False palmoplantar keratoderma-esophageal carcinoma syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0007856 MONDO:0017672 False palmoplantar keratoderma-esophageal carcinoma syndrome focal palmoplantar keratoderma UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007857 MONDO:0017666 False keratosis palmaris et plantaris-clinodactyly syndrome diffuse palmoplantar keratoderma UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007858 MONDO:0019332 False palmoplantar keratoderma, punctate type 1A punctate palmoplantar keratoderma type 1 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007859 MONDO:0019272 False palmoplantar keratoderma i, striate, focal, or diffuse hereditary palmoplantar keratoderma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007860 MONDO:0017672 False focal palmoplantar and gingival keratoderma focal palmoplantar keratoderma UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007861 MONDO:0015337 False isolated cloverleaf skull syndrome isolated craniosynostosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007863 MONDO:0004617 False Kleine-Levin syndrome recurrent hypersomnia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0007863 MONDO:0002254 False Kleine-Levin syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0007864 MONDO:0003847 False angioosteohypertrophic syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0007864 MONDO:0005385 False angioosteohypertrophic syndrome vascular disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0007864 MONDO:0019716 False angioosteohypertrophic syndrome overgrowth syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007864 MONDO:0019755 False angioosteohypertrophic syndrome developmental defect during embryogenesis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007865 MONDO:0003847 False knuckle pads hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007866 MONDO:0017666 False Bart-Pumphrey syndrome diffuse palmoplantar keratoderma UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007869 MONDO:0003847 False Kyrle disease hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007870 MONDO:0003847 False labia minora, incomplete adhesion of hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007871 MONDO:0018751 False familial congenital nasolacrimal duct obstruction hereditary otorhinolaryngologic disease UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007872 MONDO:0000426 False LADD syndrome autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0007872 MONDO:0015161 False LADD syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007872 MONDO:0800066 False LADD syndrome polydactyly-syndactyly-triphalangism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007873 MONDO:0003847 False lactic acidosis, chronic adult form hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007874 MONDO:0000426 False trichorhinophalangeal syndrome type II autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0007874 MONDO:0015159 False trichorhinophalangeal syndrome type II multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007874 MONDO:0016907 False trichorhinophalangeal syndrome type II partial deletion of the long arm of chromosome 8 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007875 MONDO:0000426 False Larsen syndrome autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0007875 MONDO:0019690 False Larsen syndrome filamin-related bone disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007875 MONDO:0019755 False Larsen syndrome developmental defect during embryogenesis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007876 MONDO:0004382 False laryngeal abductor paralysis laryngeal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007876 MONDO:0024623 False laryngeal abductor paralysis otorhinolaryngologic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007877 MONDO:0003847 False laryngeal adductor paralysis hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007879 MONDO:0004382 False larynx atresia laryngeal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007879 MONDO:0024623 False larynx atresia otorhinolaryngologic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007880 MONDO:0002254 False congenital laryngeal web syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007880 MONDO:0004382 False congenital laryngeal web laryngeal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007881 MONDO:0100358 False tooth agenesis, selective, 4 ectodermal dysplasia WNT10A related UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007882 MONDO:0003847 False lattice degeneration of retina leading to retinal detachment hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007883 MONDO:0003847 False periodic fever, immunodeficiency, and thrombocytopenia syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007884 MONDO:0003847 False leg ulcers, familial, of juvenile onset hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007885 MONDO:0018381 False Legg-Calve-Perthes disease osteochondrosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0007885 MONDO:0018383 False Legg-Calve-Perthes disease osteonecrosis of genetic origin UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007885 MONDO:0022800 False Legg-Calve-Perthes disease type 2 collagenopathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007886 MONDO:0005167 False uterine corpus leiomyoma fibroma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0007886 MONDO:0023603 False uterine corpus leiomyoma hereditary disorder of connective tissue UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007887 MONDO:0010641 False leiomyoma of vulva and esophagus X-linked diffuse leiomyomatosis-Alport syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0007890 MONDO:0003847 False lentiginosis, centrofacial neurodysraphic hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007891 MONDO:0019289 False familial generalized lentiginosis hyperpigmentation of the skin UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007892 MONDO:0002254 False Lenz-Majewski hyperostotic dwarfism syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0007892 MONDO:0015159 False Lenz-Majewski hyperostotic dwarfism multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007892 MONDO:0018230 False Lenz-Majewski hyperostotic dwarfism skeletal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007893 MONDO:0000426 False Noonan syndrome with multiple lentigines autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0007893 MONDO:0015161 False Noonan syndrome with multiple lentigines multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007893 MONDO:0020297 False Noonan syndrome with multiple lentigines Noonan syndrome and Noonan-related syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007894 MONDO:0019054 False Leri pleonosteosis congenital limb malformation UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007894 MONDO:0019695 False Leri pleonosteosis acromelic dysplasia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007895 MONDO:0019694 False platyspondylic dysplasia, Torrance type spondylodysplastic dysplasia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007895 MONDO:0022800 False platyspondylic dysplasia, Torrance type type 2 collagenopathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007896 MONDO:0004600 False acute monocytic leukemia monocytic leukemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0007898 MONDO:0003847 False leukocyte nuclear appendages, hereditary prevalence of hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007899 MONDO:0002406 False lichen sclerosus et atrophicus dermatitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007899 MONDO:0100118 False lichen sclerosus et atrophicus hereditary skin disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007901 MONDO:0003847 False levator-medial rectus synkinesis hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007902 MONDO:0006572 False lichen planus, familial lichen planus UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007902 MONDO:0100118 False lichen planus, familial hereditary skin disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007904 MONDO:0015161 False median nodule of the upper lip multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007905 MONDO:0003847 False lip, hamartomatous hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007906 MONDO:0021147 False familial partial lipodystrophy, Dunnigan type disorder of development or morphogenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007907 MONDO:0006105 False lipoma of the conjunctiva benign conjunctival neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007907 MONDO:0021630 False lipoma of the conjunctiva lipoma of face UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007908 MONDO:0000652 False multiple symmetric lipomatosis integumentary system benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0007908 MONDO:0019296 False multiple symmetric lipomatosis subcutaneous tissue disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007909 MONDO:0000652 False familial multiple lipomatosis integumentary system benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007909 MONDO:0005106 False familial multiple lipomatosis lipoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007909 MONDO:0019296 False familial multiple lipomatosis subcutaneous tissue disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007910 MONDO:0003847 False lipoprotein types--Lt system hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007911 MONDO:0003847 False lipoprotein, variant of beta hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007912 MONDO:0003847 False lithium transport hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007913 MONDO:0003847 False low density lipoprotein, variation in molecular weight of hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007914 MONDO:0003847 False lumbar stenosis, familial hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007916 MONDO:0018178 False primary intestinal lymphangiectasia intestinal lymphangiectasia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007917 MONDO:0002254 False lymphedema-cerebral arteriovenous anomaly syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007918 MONDO:0002254 False microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0007918 MONDO:0019118 False microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability inherited retinal dystrophy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0007918 MONDO:0019313 False microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability lymphatic malformation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS MONDO:0007918 MONDO:0021147 False microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability disorder of development or morphogenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007918 MONDO:0043218 False microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability neurovascular disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007920 MONDO:0000486 False lymphatic malformation 5 craniofacial dystonia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0007920 MONDO:0043218 False lymphatic malformation 5 neurovascular disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007920 MONDO:0044807 False lymphatic malformation 5 inherited dystonia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING -MONDO:0007921 MONDO:0019175 False yellow nail syndrome primary lymphedema UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007922 MONDO:0019313 False lymphedema-distichiasis syndrome lymphatic malformation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS MONDO:0007923 MONDO:0003847 False macrocephaly, benign familial hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007924 MONDO:0000426 False Bannayan-Riley-Ruvalcaba syndrome autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0007924 MONDO:0005385 False Bannayan-Riley-Ruvalcaba syndrome vascular disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0007924 MONDO:0015159 False Bannayan-Riley-Ruvalcaba syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007924 MONDO:0015185 False Bannayan-Riley-Ruvalcaba syndrome intestinal polyposis syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007924 MONDO:0019716 False Bannayan-Riley-Ruvalcaba syndrome overgrowth syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007925 MONDO:0002281 False myelodysplastic syndrome associated with isolated del(5q) macrocytic anemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0007925 MONDO:0003847 False myelodysplastic syndrome associated with isolated del(5q) hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0007925 MONDO:0016904 False myelodysplastic syndrome associated with isolated del(5q) partial deletion of the long arm of chromosome 5 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007927 MONDO:0015496 False congenital macroglossia macroglossia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007930 MONDO:0009276 False Bernard-Soulier syndrome, type A2, autosomal dominant Bernard-Soulier syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS MONDO:0007931 MONDO:0700238 False vitelliform macular dystrophy 2 BEST1-related dominant retinopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007933 MONDO:0011979 False vitelliform macular dystrophy 1 adult-onset foveomacular vitelliform dystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007934 MONDO:0020242 False benign concentric annular macular dystrophy hereditary macular dystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -16369,77 +22251,47 @@ MONDO:0007938 MONDO:0016674 False 46,XY sex reversal 4 46,XY partial gonadal dys MONDO:0007941 MONDO:0003847 False malocclusion due to protuberant upper front teeth hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007942 MONDO:0003847 False Mammastatin hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007943 MONDO:0002254 False Nager acrofacial dysostosis syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0007943 MONDO:0015161 False Nager acrofacial dysostosis multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007943 MONDO:0800483 False Nager acrofacial dysostosis SF3B4-related acrofacial dysostosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007945 MONDO:0003847 False mannose 6-phosphate receptor recognition defect, Lebanese type hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007946 MONDO:0002254 False jaw-winking syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0007946 MONDO:0003569 False jaw-winking syndrome cranial nerve neuropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0007946 MONDO:0024458 False jaw-winking syndrome disorder of visual system UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007947 MONDO:0000426 False Marfan syndrome autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0007947 MONDO:0002254 False Marfan syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0007947 MONDO:0005172 False Marfan syndrome skeletal system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007947 MONDO:0017310 False Marfan syndrome Marfan and Marfan-related disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007948 MONDO:0003847 False marfanoid hypermobility syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007949 MONDO:0005328 False Marshall syndrome eye disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0007949 MONDO:0015161 False Marshall syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007949 MONDO:0016761 False Marshall syndrome spondyloepiphyseal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0007949 MONDO:0019287 False Marshall syndrome ectodermal dysplasia syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS MONDO:0007950 MONDO:0003847 False mastocytosis hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0007950 MONDO:0004805 False mastocytosis leukocyte disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0007951 MONDO:0003847 False masticatory muscles, hypertrophy of hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007952 MONDO:0003847 False maxillofacial dysostosis hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007953 MONDO:0002232 False Binder syndrome nasal cavity disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0007953 MONDO:0015161 False Binder syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007955 MONDO:0003847 False Meckel diverticulum hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0007956 MONDO:0016643 False Pai syndrome frontonasal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0007957 MONDO:0003847 False mediosternal depigmentation line hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007958 MONDO:0015277 False familial medullary thyroid carcinoma medullary thyroid gland carcinoma UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0007958 MONDO:0019003 False familial medullary thyroid carcinoma multiple endocrine neoplasia type 2 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007961 MONDO:0016608 False megalencephaly, autosomal dominant megalencephaly UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007962 MONDO:0003847 False megalodactyly hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007962 MONDO:0021147 False megalodactyly disorder of development or morphogenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007964 MONDO:0000426 False melanoma, cutaneous malignant, susceptibility to, 2 autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0007965 MONDO:0018961 False melanoma, malignant familial intraocular familial melanoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007967 MONDO:0005071 False melanoma and neural system tumor syndrome nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0007967 MONDO:0015356 False melanoma and neural system tumor syndrome hereditary neoplastic syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007968 MONDO:0003847 False melanoma tumor antigen Gp90 hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007969 MONDO:0002098 False Melkersson-Rosenthal syndrome facial nerve disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0007969 MONDO:0002102 False Melkersson-Rosenthal syndrome cheilitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0007969 MONDO:0002254 False Melkersson-Rosenthal syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0007969 MONDO:0005492 False Melkersson-Rosenthal syndrome urticaria UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0007970 MONDO:0017198 False melorheostosis osteopetrosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0007971 MONDO:0018230 False delayed membranous cranial ossification skeletal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007972 MONDO:0006744 False Meniere disease endolymphatic hydrops UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0007972 MONDO:0018751 False Meniere disease hereditary otorhinolaryngologic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007972 MONDO:0037940 False Meniere disease inherited auditory system disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007973 MONDO:0003847 False mental and growth retardation with amblyopia hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007975 MONDO:0020127 False meralgia paraesthetica, familial hereditary peripheral neuropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007975 MONDO:0023757 False meralgia paraesthetica, familial meralgia paresthetica UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007976 MONDO:0003847 False mesomelic dwarfism of hypoplastic tibia and radius type hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007977 MONDO:0018230 False mesomelic dysplasia, Kantaputra type skeletal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007977 MONDO:0023599 False mesomelic dysplasia, Kantaputra type mesomelic dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007979 MONDO:0003847 False metachondromatosis hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0007979 MONDO:0005381 False metachondromatosis bone disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0007980 MONDO:0003847 False metachromasia of fibroblasts hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007982 MONDO:0002254 False metaphyseal chondrodysplasia, Jansen type syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0007982 MONDO:0005516 False metaphyseal chondrodysplasia, Jansen type osteochondrodysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0007982 MONDO:0018230 False metaphyseal chondrodysplasia, Jansen type skeletal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007983 MONDO:0002254 False Schmid metaphyseal chondrodysplasia syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0007983 MONDO:0005516 False Schmid metaphyseal chondrodysplasia osteochondrodysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0007983 MONDO:0018230 False Schmid metaphyseal chondrodysplasia skeletal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007984 MONDO:0002254 False metaphyseal dysplasia-maxillary hypoplasia-brachydacty syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0007984 MONDO:0018230 False metaphyseal dysplasia-maxillary hypoplasia-brachydacty syndrome skeletal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007985 MONDO:0003847 False metatarsus varus, type 1 hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007986 MONDO:0016761 False metatropic dysplasia spondyloepiphyseal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0007986 MONDO:0018240 False metatropic dysplasia TRPV4-related bone disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007987 MONDO:0016761 False Kniest dysplasia spondyloepiphyseal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0007987 MONDO:0022800 False Kniest dysplasia type 2 collagenopathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007988 MONDO:0000426 False autosomal dominant primary microcephaly autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0007988 MONDO:0002320 False autosomal dominant primary microcephaly congenital nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0007988 MONDO:0015160 False autosomal dominant primary microcephaly multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007988 MONDO:0016056 False autosomal dominant primary microcephaly isolated congenital microcephaly UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0007988 MONDO:0100500 False autosomal dominant primary microcephaly Mendelian neurodevelopmental disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007989 MONDO:0011119 False congenital microcoria iridogoniodysgenesis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007990 MONDO:0005093 False multiple benign circumferential skin creases on limbs skin disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0007991 MONDO:0015159 False microcephaly-deafness-intellectual disability syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007992 MONDO:0005328 False microcornea-glaucoma-absent frontal sinuses syndrome eye disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007993 MONDO:0002254 False microgastria-limb reduction defect syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007993 MONDO:0015160 False microgastria-limb reduction defect syndrome multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -16454,44 +22306,30 @@ MONDO:0008002 MONDO:0100515 False mirror movements 1 mirror movements 1 and/or a MONDO:0008003 MONDO:0000090 False autosomal dominant progressive external ophthalmoplegia progressive external ophthalmoplegia with mitochondrial DNA deletions UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008003 MONDO:0000426 False autosomal dominant progressive external ophthalmoplegia autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008004 MONDO:0004910 False familial mitral valve prolapse mitral valve prolapse UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008004 MONDO:0019817 False familial mitral valve prolapse congenital mitral valve insufficiency and/or stenosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008004 MONDO:0042966 False familial mitral valve prolapse inherited mitral valve disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008005 MONDO:0019690 False cardiospondylocarpofacial syndrome filamin-related bone disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008006 MONDO:0002098 False Mobius syndrome facial nerve disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0008006 MONDO:0002254 False Mobius syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0008006 MONDO:0002320 False Mobius syndrome congenital nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0008006 MONDO:0015083 False Mobius syndrome nuclear oculomotor paralysis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008006 MONDO:0015160 False Mobius syndrome multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008007 MONDO:0002220 False tooth ankylosis tooth hard tissue disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0008007 MONDO:0002257 False tooth ankylosis ankylosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0008007 MONDO:0003847 False tooth ankylosis hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0008008 MONDO:0003847 False MOMO syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008009 MONDO:0000426 False monilethrix autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0008009 MONDO:0100118 False monilethrix hereditary skin disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008010 MONDO:0003847 False antigen defined by monoclonal antibody Aj9 hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008011 MONDO:0003847 False antigen defined by monoclonal antibody T87 hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008012 MONDO:0003847 False Monophalangy of great toe hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008013 MONDO:0016874 False chromosome 9p deletion syndrome partial deletion of chromosome 9 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008014 MONDO:0003847 False nondisjunction hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008015 MONDO:0002467 False motion sickness inner ear disorder UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0008015 MONDO:0018751 False motion sickness hereditary otorhinolaryngologic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008015 MONDO:0037940 False motion sickness inherited auditory system disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008017 MONDO:0005093 False hereditary mucoepithelial dysplasia skin disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008018 MONDO:0000426 False Muir-Torre syndrome autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0008018 MONDO:0018630 False Muir-Torre syndrome hereditary nonpolyposis colon cancer UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING -MONDO:0008019 MONDO:0003847 False mullerian aplasia and hyperandrogenism hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0008019 MONDO:0015830 False mullerian aplasia and hyperandrogenism partial bilateral aplasia of the mullerian ducts UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008020 MONDO:0003847 False multiple exostoses with spastic tetraparesis hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008022 MONDO:0003847 False muscle cramps, familial hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008023 MONDO:0002254 False muscular atrophy-ataxia-retinitis pigmentosa-diabetes mellitus syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008023 MONDO:0004884 False muscular atrophy-ataxia-retinitis pigmentosa-diabetes mellitus syndrome eye degenerative disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008023 MONDO:0024237 False muscular atrophy-ataxia-retinitis pigmentosa-diabetes mellitus syndrome inherited neurodegenerative disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008023 MONDO:0100309 False muscular atrophy-ataxia-retinitis pigmentosa-diabetes mellitus syndrome hereditary ataxia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008024 MONDO:0015355 False neuronopathy, distal hereditary motor, type 7A distal hereditary motor neuropathy type 7 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0008025 MONDO:0015352 False neuronopathy, distal hereditary motor, type 2A distal hereditary motor neuropathy type 2 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0008027 MONDO:0003847 False muscular atrophy, malignant neurogenic hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008028 MONDO:0020121 False muscular dystrophy, Barnes type muscular dystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008029 MONDO:0016106 False Bethlem myopathy progressive muscular dystrophy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008029 MONDO:0019950 False Bethlem myopathy congenital muscular dystrophy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0008029 MONDO:0019952 False Bethlem myopathy congenital myopathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS MONDO:0008034 MONDO:0010311 False muscular dystrophy, pseudohypertrophic, with Internalized capillaries Becker muscular dystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0008035 MONDO:0003847 False muscular hypoplasia, congenital universal, of Krabbe hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -16499,40 +22337,20 @@ MONDO:0008036 MONDO:0009688 False myasthenia, limb-girdle, autoimmune myasthenia MONDO:0008037 MONDO:0003847 False myelinated optic nerve fibers hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008038 MONDO:0100310 False ataxia-pancytopenia syndrome hereditary cerebellar ataxia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008039 MONDO:0005801 False tropical spastic paraparesis human T-lymphotropic virus 1 infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008039 MONDO:0020010 False tropical spastic paraparesis infectious disorder of the nervous system UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008040 MONDO:0020076 False transient myeloproliferative syndrome myeloproliferative neoplasm UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0008041 MONDO:0016022 False myoclonic epilepsy, Hartung type early myoclonic encephalopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008043 MONDO:0100309 False myoclonus-cerebellar ataxia-deafness syndrome hereditary ataxia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008044 MONDO:0000903 False myoclonic dystonia 11 myoclonus-dystonia syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0008045 MONDO:0001516 False spinal muscular atrophy-progressive myoclonic epilepsy syndrome spinal muscular atrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0008045 MONDO:0005395 False spinal muscular atrophy-progressive myoclonic epilepsy syndrome movement disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0008045 MONDO:0024257 False spinal muscular atrophy-progressive myoclonic epilepsy syndrome hereditary motor neuron disease UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008045 MONDO:0100524 False spinal muscular atrophy-progressive myoclonic epilepsy syndrome ASAH1-related sphingolipidosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008045 MONDO:0800460 False spinal muscular atrophy-progressive myoclonic epilepsy syndrome ASAH1-related disorders UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008046 MONDO:0000426 False autosomal dominant myoglobinuria autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008046 MONDO:0000866 False autosomal dominant myoglobinuria hereditary myoglobinuria UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008046 MONDO:0019052 False autosomal dominant myoglobinuria inborn errors of metabolism UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008046 MONDO:0700223 False autosomal dominant myoglobinuria hereditary skeletal muscle disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008047 MONDO:0020127 False episodic ataxia type 1 hereditary peripheral neuropathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008048 MONDO:0000426 False autosomal dominant centronuclear myopathy autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0008049 MONDO:0018949 False myopathy, distal, infantile-onset distal myopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS MONDO:0008050 MONDO:0002320 False MYH7-related skeletal myopathy congenital nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0008050 MONDO:0016195 False MYH7-related skeletal myopathy qualitative or quantitative defects of beta-myosin heavy chain (MYH7) UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008050 MONDO:0019952 False MYH7-related skeletal myopathy congenital myopathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS -MONDO:0008051 MONDO:0019952 False tubular aggregate myopathy congenital myopathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS MONDO:0008052 MONDO:0003847 False myopathy with storage of glycoproteins and Glycosaminoglycans hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008054 MONDO:0018010 False juvenile dermatomyositis juvenile idiopathic inflammatory myopathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008055 MONDO:0003847 False myotonia congenita, autosomal dominant hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0008055 MONDO:0009710 False myotonia congenita, autosomal dominant Thomsen and Becker disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0008056 MONDO:0024573 False myotonic dystrophy type 1 familial hypertrophic cardiomyopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS MONDO:0008057 MONDO:0015285 False Carney complex, type 1 Carney complex UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008058 MONDO:0019952 False cylindrical spirals myopathy congenital myopathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS -MONDO:0008059 MONDO:0017666 False Naegeli-Franceschetti-Jadassohn syndrome diffuse palmoplantar keratoderma UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008059 MONDO:0019287 False Naegeli-Franceschetti-Jadassohn syndrome ectodermal dysplasia syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS -MONDO:0008059 MONDO:0019289 False Naegeli-Franceschetti-Jadassohn syndrome hyperpigmentation of the skin UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008061 MONDO:0000426 False nail-patella syndrome autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0008061 MONDO:0005328 False nail-patella syndrome eye disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0008061 MONDO:0018234 False nail-patella syndrome dysostosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0008062 MONDO:0016158 False narcolepsy 1 narcolepsy-cataplexy syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008063 MONDO:0003847 False nasal alar collapse, bilateral hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008064 MONDO:0003847 False nasal bones, absence of hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -16548,43 +22366,31 @@ MONDO:0008070 MONDO:0015738 False nemaline myopathy 3 childhood-onset nemaline m MONDO:0008070 MONDO:0100084 False nemaline myopathy 3 alpha-actinopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008071 MONDO:0005240 False autosomal dominant progressive nephropathy with hypertension kidney disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008072 MONDO:0020573 False IgA nephropathy, susceptibility to, 1 inherited disease susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008073 MONDO:0008264 False familial juvenile hyperuricemic nephropathy type 1 autosomal dominant medullary cystic kidney disease with or without hyperuricemia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008073 MONDO:0019236 False familial juvenile hyperuricemic nephropathy type 1 inborn disorder of purine metabolism UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008075 MONDO:0002531 False schwannomatosis skin neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0008075 MONDO:0019289 False schwannomatosis hyperpigmentation of the skin UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008075 MONDO:0019755 False schwannomatosis developmental defect during embryogenesis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008075 MONDO:0021061 False schwannomatosis neurofibromatosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0008075 MONDO:0100118 False schwannomatosis hereditary skin disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008076 MONDO:0006683 False amyotrophic neuralgia brachial plexus neuropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0008076 MONDO:0020127 False amyotrophic neuralgia hereditary peripheral neuropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008078 MONDO:0018975 False neurofibromatosis, familial spinal neurofibromatosis type 1 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0008079 MONDO:0003847 False neurofibromatosis-pheochromocytoma-duodenal carcinoid syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008080 MONDO:0008075 False neurofibromatosis, type III, mixed central and peripheral schwannomatosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0008081 MONDO:0021061 False neurofibromatosis, type IV, of Riccardi neurofibromatosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008082 MONDO:0000426 False multiple endocrine neoplasia type 2B autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0008082 MONDO:0006295 False multiple endocrine neoplasia type 2B malignant urinary system neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0008083 MONDO:0019260 False ceroid lipofuscinosis, neuronal, 4 (Kufs type) adult neuronal ceroid lipofuscinosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008084 MONDO:0003847 False neuropathy, congenital, with arthrogryposis multiplex hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008086 MONDO:0018213 False neuropathy, hereditary sensory and autonomic, type 1A hereditary sensory and autonomic neuropathy type 1 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0008087 MONDO:0020127 False hereditary neuropathy with liability to pressure palsies hereditary peripheral neuropathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008087 MONDO:0022754 False hereditary neuropathy with liability to pressure palsies chromosome 17p deletion UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008088 MONDO:0003847 False neuropathy, with paraprotein in serum, cerebrospinal fluid and urine hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008089 MONDO:0003847 False neutropenia, chronic familial hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008090 MONDO:0003847 False cyclic hematopoiesis hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0008090 MONDO:0015134 False cyclic hematopoiesis constitutional neutropenia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008092 MONDO:0003847 False hereditary neutrophilia hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0008092 MONDO:0004805 False hereditary neutrophilia leukocyte disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0008093 MONDO:0005073 False nevus, epidermal melanocytic nevus UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008093 MONDO:0100118 False nevus, epidermal hereditary skin disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008094 MONDO:0016231 False familial multiple nevi flammei capillary malformation UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008094 MONDO:0019293 False familial multiple nevi flammei skin vascular disease UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0008094 MONDO:0021658 False familial multiple nevi flammei vascular ectasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008094 MONDO:0100118 False familial multiple nevi flammei hereditary skin disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008095 MONDO:0003847 False nevus anemicus hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008095 MONDO:0021658 False nevus anemicus vascular ectasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008096 MONDO:0003847 False nevus flammeus of nape of neck hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008097 MONDO:0019755 False linear nevus sebaceous syndrome developmental defect during embryogenesis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008097 MONDO:0006499 False linear nevus sebaceous syndrome hamartoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008097 MONDO:0020179 False linear nevus sebaceous syndrome palpebral nevus UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008097 MONDO:0100118 False linear nevus sebaceous syndrome hereditary skin disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008098 MONDO:0018230 False mesomelic dwarfism, Nievergelt type skeletal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008098 MONDO:0023599 False mesomelic dwarfism, Nievergelt type mesomelic dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008099 MONDO:0002320 False congenital stationary night blindness autosomal dominant 2 congenital nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0008100 MONDO:0003847 False nipples inverted hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -16595,157 +22401,103 @@ MONDO:0008105 MONDO:0003847 False nose, anomalous shape of hereditary disease UN MONDO:0008107 MONDO:0005712 False nystagmus, hereditary vertical congenital nystagmus UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0008108 MONDO:0003847 False oculocerebrocutaneous syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008108 MONDO:0005071 False oculocerebrocutaneous syndrome nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008109 MONDO:0018746 False ocular cicatricial pemphigoid mucous membrane pemphigoid UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008111 MONDO:0005328 False oculodentodigital dysplasia eye disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0008111 MONDO:0015160 False oculodentodigital dysplasia multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008111 MONDO:0018230 False oculodentodigital dysplasia skeletal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008111 MONDO:0019287 False oculodentodigital dysplasia ectodermal dysplasia syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS MONDO:0008113 MONDO:0002254 False Schilbach-Rott syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008113 MONDO:0015161 False Schilbach-Rott syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008114 MONDO:0003847 False obsessive-compulsive disorder hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0008116 MONDO:0004746 False oculopharyngeal muscular dystrophy myopathy of extraocular muscle UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0008116 MONDO:0016106 False oculopharyngeal muscular dystrophy progressive muscular dystrophy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008118 MONDO:0021147 False odontomatosis-aortae esophagus stenosis syndrome disorder of development or morphogenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008119 MONDO:0015548 False spinocerebellar ataxia type 1 Huntington disease-like syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008119 MONDO:0019792 False spinocerebellar ataxia type 1 autosomal dominant cerebellar ataxia type I UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008121 MONDO:0003847 False onychogryposis, pedal, with keratosis plantaris and coarse hair hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008123 MONDO:0000426 False autosomal dominant omodysplasia autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0008124 MONDO:0003847 False omphalocele, autosomal hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008124 MONDO:0019015 False omphalocele, autosomal omphalocele UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008127 MONDO:0003847 False ophthalmomandibulomelic dysplasia hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008128 MONDO:0003847 False ophthalmoplegia, familial static hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008129 MONDO:0003847 False ophthalmoplegia, familial total, with iris transillumination hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008130 MONDO:0015159 False ophthalmoplegia-intellectual disability-lingua scrotalis syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008131 MONDO:0014720 False optic atrophy, hearing loss, and peripheral neuropathy, autosomal dominant autosomal dominant optic atrophy plus syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008132 MONDO:0020478 False optic atrophy with demyelinating disease of CNS Leber plus disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0008133 MONDO:0016387 False optic atrophy 3 mitochondrial oxidative phosphorylation disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008133 MONDO:0020250 False optic atrophy 3 autosomal dominant optic atrophy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008134 MONDO:0016387 False autosomal dominant optic atrophy, classic form mitochondrial oxidative phosphorylation disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008134 MONDO:0020250 False autosomal dominant optic atrophy, classic form autosomal dominant optic atrophy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008136 MONDO:0020249 False isolated optic nerve hypoplasia hereditary optic neuropathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008136 MONDO:0800183 False isolated optic nerve hypoplasia PAX6-related ocular dysgenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008138 MONDO:0002254 False syndromic orbital border hypoplasia syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008139 MONDO:0019054 False OSLAM syndrome congenital limb malformation UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008139 MONDO:0019060 False OSLAM syndrome bone neoplasm UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008140 MONDO:0003847 False ossified ear cartilages hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008141 MONDO:0003847 False ossicular malformations, familial hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008142 MONDO:0018381 False Thiemann disease, familial form osteochondrosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008142 MONDO:0018383 False Thiemann disease, familial form osteonecrosis of genetic origin UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008143 MONDO:0020573 False osteoarthritis susceptibility 1 inherited disease susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008145 MONDO:0018230 False Ollier disease skeletal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008145 MONDO:0023603 False Ollier disease hereditary disorder of connective tissue UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008146 MONDO:0800064 False osteogenesis imperfecta type 1 osteogenesis imperfecta and a reduction of bone mineral density. UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008147 MONDO:0800064 False osteogenesis imperfecta type 2 osteogenesis imperfecta and a reduction of bone mineral density. UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008148 MONDO:0800064 False osteogenesis imperfecta type 4 osteogenesis imperfecta and a reduction of bone mineral density. UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008149 MONDO:0008146 False osteogenesis imperfecta with opalescent teeth, blue sclerae and wormian bones but without fractures osteogenesis imperfecta type 1 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS -MONDO:0008150 MONDO:0002081 False osteoglophonic dwarfism musculoskeletal system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0008150 MONDO:0003847 False osteoglophonic dwarfism hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0008151 MONDO:0800064 False gnathodiaphyseal dysplasia osteogenesis imperfecta and a reduction of bone mineral density. UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008152 MONDO:0019707 False multicentric carpo-tarsal osteolysis with or without nephropathy primary osteolysis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008153 MONDO:0021154 False progressive osseous heteroplasia dermis disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008153 MONDO:0100118 False progressive osseous heteroplasia hereditary skin disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008153 MONDO:0800466 False progressive osseous heteroplasia disorder of GNAS inactivation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008154 MONDO:0005166 False osteomas of mandible osteoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008154 MONDO:0021522 False osteomas of mandible benign neoplasm of lower jaw bone UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008155 MONDO:0017198 False osteomesopyknosis osteopetrosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008157 MONDO:0002254 False Buschke-Ollendorff syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0008157 MONDO:0005172 False Buschke-Ollendorff syndrome skeletal system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008157 MONDO:0021106 False Buschke-Ollendorff syndrome laminopathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008158 MONDO:0006025 False dacryocystitis-osteopoikilosis syndrome autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008159 MONDO:0005298 False postmenopausal osteoporosis osteoporosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008160 MONDO:0003847 False osteosclerosis with ichthyosis and fractures hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008161 MONDO:0016910 False otodental syndrome partial deletion of the long arm of chromosome 11 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008161 MONDO:0021147 False otodental syndrome disorder of development or morphogenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008162 MONDO:0020573 False otitis media, susceptibility to inherited disease susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008163 MONDO:0003847 False otofaciocervical syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008163 MONDO:0021147 False otofaciocervical syndrome disorder of development or morphogenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008165 MONDO:0003689 False southeast Asian ovalocytosis familial hemolytic anemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008165 MONDO:0017319 False southeast Asian ovalocytosis hereditary elliptocytosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008165 MONDO:0020102 False southeast Asian ovalocytosis hereditary stomatocytosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008166 MONDO:0003847 False ovalocytosis, hereditary hemolytic, with defective erythropoiesis hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008169 MONDO:0003847 False osteochondrodysplasia, rhizomelic, with callosal agenesis, thrombocytopenia, hydrocephalus, and hypertension hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008171 MONDO:0024647 False nephrolithiasis urolithiasis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0008172 MONDO:0002081 False hypertrophic osteoarthropathy, primary, autosomal dominant musculoskeletal system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008175 MONDO:0019707 False pacman dysplasia primary osteolysis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008176 MONDO:0800464 False Paget disease of bone 3 SQSTM1-related multisystem proteinopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008179 MONDO:0003847 False paroxysmal extreme pain disorder hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0008179 MONDO:0700057 False paroxysmal extreme pain disorder neurological pain disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008180 MONDO:0024623 False congenital velopharyngeal incompetence otorhinolaryngologic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008181 MONDO:0003847 False palmaris longus muscle, absence of hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008182 MONDO:0002254 False nasopalpebral lipoma-coloboma syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008182 MONDO:0015161 False nasopalpebral lipoma-coloboma syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008183 MONDO:0002356 False annular pancreas pancreas disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0008184 MONDO:0009832 False pancreas, dorsal, agenesis of pancreatic agenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0008185 MONDO:0003847 False hereditary chronic pancreatitis hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008185 MONDO:0005003 False hereditary chronic pancreatitis chronic pancreatitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008186 MONDO:0003847 False pancytopenia and occlusive vascular disease hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008187 MONDO:0031240 False panic disorder 1 familial panic disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0008188 MONDO:0003847 False papillomatosis, confluent and reticulated hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008189 MONDO:0003847 False papillomatosis, florid, of nipple hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008192 MONDO:0017366 False paragangliomas 1 hereditary pheochromocytoma-paraganglioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008192 MONDO:0021227 False paragangliomas 1 adrenal gland neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008193 MONDO:0009830 False paralysis agitans, juvenile, of Hunt parkinsonian-pyramidal syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0008194 MONDO:0003847 False Paramolar tubercle of bolk hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008195 MONDO:0016120 False paramyotonia congenita of Von Eulenburg myotonic syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008195 MONDO:0700223 False paramyotonia congenita of Von Eulenburg hereditary skeletal muscle disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008195 MONDO:0800468 False paramyotonia congenita of Von Eulenburg SCN4A-related channelopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008196 MONDO:0018240 False parastremmatic dwarfism TRPV4-related bone disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008196 MONDO:0019698 False parastremmatic dwarfism bent bone dysplasia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008198 MONDO:0018230 False parietal foramina with cleidocranial dysplasia skeletal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008200 MONDO:0008199 False autosomal dominant Parkinson disease 1 late-onset Parkinson disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS -MONDO:0008201 MONDO:0002254 False Perry syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0008201 MONDO:0003847 False Perry syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0008201 MONDO:0021095 False Perry syndrome parkinsonian disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0008202 MONDO:0003847 False Parotidomegaly, hereditary bilateral hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008203 MONDO:0003847 False Passovoy factor defect hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008205 MONDO:0003847 False patella aplasia/hypoplasia hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008205 MONDO:0018234 False patella aplasia/hypoplasia dysostosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008206 MONDO:0005395 False benign paroxysmal tonic upgaze of childhood with ataxia movement disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008207 MONDO:0002342 False chondromalacia patellae chondromalacia UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0008207 MONDO:0018230 False chondromalacia patellae skeletal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008208 MONDO:0003847 False patella, familial recurrent dislocation of hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008209 MONDO:0002254 False Char syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0008209 MONDO:0011827 False Char syndrome patent ductus arteriosus UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS MONDO:0008209 MONDO:0015160 False Char syndrome multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008211 MONDO:0005495 False pseudoleprechaunism syndrome, Patterson type adrenal gland disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008212 MONDO:0003847 False Pechet factor deficiency hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008213 MONDO:0003847 False pectus excavatum hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008214 MONDO:0000426 False Pelger-Huet anomaly autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0008214 MONDO:0021106 False Pelger-Huet anomaly laminopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008215 MONDO:0016956 False adult-onset autosomal dominant demyelinating leukodystrophy partial trisomy of the long arm of chromosome 5 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008215 MONDO:0019046 False adult-onset autosomal dominant demyelinating leukodystrophy leukodystrophy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS MONDO:0008215 MONDO:0021106 False adult-onset autosomal dominant demyelinating leukodystrophy laminopathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008216 MONDO:0003847 False pelvic lipomatosis with crossed renal ectopia hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008217 MONDO:0018234 False pelvis-shoulder dysplasia dysostosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008217 MONDO:0019054 False pelvis-shoulder dysplasia congenital limb malformation UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008217 MONDO:0019713 False pelvis-shoulder dysplasia non-syndromic limb reduction defect UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008218 MONDO:0019268 False Hailey-Hailey disease epidermal disease UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008218 MONDO:0100118 False Hailey-Hailey disease hereditary skin disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008221 MONDO:0019232 False prolidase deficiency inborn disorder of peptide metabolism UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008222 MONDO:0000995 False Andersen-Tawil syndrome familial periodic paralysis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0008222 MONDO:0019119 False Andersen-Tawil syndrome muscular channelopathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008223 MONDO:0000995 False hypokalemic periodic paralysis familial periodic paralysis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0008223 MONDO:0003019 False hypokalemic periodic paralysis potassium deficiency disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0008224 MONDO:0000995 False hyperkalemic periodic paralysis familial periodic paralysis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0008224 MONDO:0800468 False hyperkalemic periodic paralysis SCN4A-related channelopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008225 MONDO:0000995 False normokalemic periodic paralysis familial periodic paralysis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008226 MONDO:0005593 False periodontitis, aggressive 1 chronic periodontitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008226 MONDO:0800465 False periodontitis, aggressive 1 CTSC-related disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008227 MONDO:0019695 False peripheral dysostosis acromelic dysplasia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008228 MONDO:0001700 False pernicious anemia megaloblastic anemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0008228 MONDO:0003847 False pernicious anemia hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0008228 MONDO:0006873 False pernicious anemia nutritional deficiency disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0008229 MONDO:0003847 False peroneal nerve, accessory deep hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008230 MONDO:0003847 False peroxidase, salivary hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008231 MONDO:0002036 False Peyronie disease penile disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0008231 MONDO:0003847 False Peyronie disease hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0008232 MONDO:0003847 False phagocytosis, plasma-related defect 1N hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008232 MONDO:0024627 False phagocytosis, plasma-related defect 1N phagocytic cell dysfunction UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008233 MONDO:0017366 False pheochromocytoma hereditary pheochromocytoma-paraganglioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008233 MONDO:0021511 False pheochromocytoma benign neoplasm of adrenal gland UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008234 MONDO:0000426 False multiple endocrine neoplasia type 2A autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0008235 MONDO:0003847 False pheochromocytoma-islet cell tumor syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008236 MONDO:0003847 False phlebectasia of lips hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008237 MONDO:0003847 False phocomelia-ectrodactyly-deafness-sinus arrhythmia syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008237 MONDO:0018234 False phocomelia-ectrodactyly-deafness-sinus arrhythmia syndrome dysostosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008237 MONDO:0019054 False phocomelia-ectrodactyly-deafness-sinus arrhythmia syndrome congenital limb malformation UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008238 MONDO:0003847 False phosphatase, acid, of tissues hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008239 MONDO:0003847 False phosphoglucomutase 4 hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008240 MONDO:0003847 False 6-phosphogluconolactonase deficiency hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -16754,12 +22506,9 @@ MONDO:0008242 MONDO:0003847 False photomyoclonus, diabetes mellitus, deafness, n MONDO:0008243 MONDO:0017276 False Pick disease frontotemporal dementia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0008243 MONDO:0024238 False Pick disease cerebral degeneration UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008243 MONDO:0044996 False Pick disease cerebral cortex disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008244 MONDO:0000426 False piebaldism autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0008244 MONDO:0005328 False piebaldism eye disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0008244 MONDO:0019290 False piebaldism hypopigmentation of the skin UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008244 MONDO:0021635 False piebaldism neurocristopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008244 MONDO:0100118 False piebaldism hereditary skin disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008245 MONDO:0019290 False piebald trait-neurologic defects syndrome hypopigmentation of the skin UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008246 MONDO:0019118 False pigmented paravenous retinochoroidal atrophy inherited retinal dystrophy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0008247 MONDO:0003847 False Robin sequence-oligodactyly syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008248 MONDO:0003847 False pigmented purpuric eruption hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -16773,17 +22522,11 @@ MONDO:0008255 MONDO:0003847 False platelet factor 3 deficiency hereditary diseas MONDO:0008256 MONDO:0003847 False platelet membrane fluidity hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008257 MONDO:0003847 False platelet responsiveness to adrenaline, depressed hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008258 MONDO:0003847 False platelet signal processing defect hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008259 MONDO:0002076 False familial spontaneous pneumothorax pneumothorax UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0008259 MONDO:0003847 False familial spontaneous pneumothorax hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0008260 MONDO:0019276 False Kindler syndrome inherited epidermolysis bullosa UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008261 MONDO:0016382 False hereditary sclerosing poikiloderma, Weary type hereditary poikiloderma UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008262 MONDO:0015856 False Poland syndrome syndromic breast hypoplasia/aplasia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008262 MONDO:0019054 False Poland syndrome congenital limb malformation UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008262 MONDO:0002254 False Poland syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0008262 MONDO:0019713 False Poland syndrome non-syndromic limb reduction defect UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008262 MONDO:0700223 False Poland syndrome hereditary skeletal muscle disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008263 MONDO:0004691 False polycystic kidney disease 1 autosomal dominant polycystic kidney disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0008264 MONDO:0000426 False autosomal dominant medullary cystic kidney disease with or without hyperuricemia autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008264 MONDO:0019741 False autosomal dominant medullary cystic kidney disease with or without hyperuricemia familial cystic renal disease UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008266 MONDO:0019673 False polydactyly, postaxial, type A1 postaxial polydactyly type A UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008268 MONDO:0002254 False polydactyly-myopia syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008269 MONDO:0800066 False polydactyly of a biphalangeal thumb polydactyly-syndactyly-triphalangism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -16792,105 +22535,66 @@ MONDO:0008272 MONDO:0000722 False polysyndactyly 4 non-syndromic synpolydactyly MONDO:0008272 MONDO:0019052 False polysyndactyly 4 inborn errors of metabolism UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008272 MONDO:0800066 False polysyndactyly 4 polydactyly-syndactyly-triphalangism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008273 MONDO:0005093 False actinic prurigo skin disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008275 MONDO:0019707 False familial expansile osteolysis primary osteolysis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008276 MONDO:0000426 False generalized juvenile polyposis/juvenile polyposis coli autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0008276 MONDO:0017380 False generalized juvenile polyposis/juvenile polyposis coli juvenile polyposis syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008277 MONDO:0004298 False stomach polyp stomach disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008277 MONDO:0005079 False stomach polyp polyp UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008278 MONDO:0015185 False juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome intestinal polyposis syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008280 MONDO:0015185 False Peutz-Jeghers syndrome intestinal polyposis syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008281 MONDO:0000147 False polyposis, intestinal, scattered and discrete polyposis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008281 MONDO:0003847 False polyposis, intestinal, scattered and discrete hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008282 MONDO:0003847 False polyposis, intestinal, with multiple exostoses hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008283 MONDO:0015185 False Cronkhite-Canada syndrome intestinal polyposis syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008283 MONDO:0019287 False Cronkhite-Canada syndrome ectodermal dysplasia syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS MONDO:0008284 MONDO:0000147 False polyposis of gastric fundus without polyposis coli polyposis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008284 MONDO:0003847 False polyposis of gastric fundus without polyposis coli hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008285 MONDO:0003847 False polyps, multiple and recurrent inflammatory fibroid, gastrointestinal hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008286 MONDO:0019054 False crossed polysyndactyly congenital limb malformation UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008287 MONDO:0002254 False Greig cephalopolysyndactyly syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0008287 MONDO:0800066 False Greig cephalopolysyndactyly syndrome polydactyly-syndactyly-triphalangism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008288 MONDO:0003847 False popliteal cyst hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008289 MONDO:0800461 False brain small vessel disease 1 with or without ocular anomalies COL4A1-related disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008290 MONDO:0019141 False porokeratosis 1, Mibelli type porokeratosis of Mibelli UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008292 MONDO:0017675 False punctate palmoplantar keratoderma type 2 punctate palmoplantar keratoderma UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0008293 MONDO:0019141 False porokeratosis 3, disseminated superficial actinic type porokeratosis of Mibelli UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008293 MONDO:0019212 False porokeratosis 3, disseminated superficial actinic type disseminated superficial actinic porokeratosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008294 MONDO:0002520 False acute intermittent porphyria hepatic porphyria UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0008294 MONDO:0020683 False acute intermittent porphyria acute disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008295 MONDO:0006504 False sporadic porphyria cutanea tarda acquired metabolic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008295 MONDO:0015104 False sporadic porphyria cutanea tarda porphyria cutanea tarda UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008296 MONDO:0015104 False familial porphyria cutanea tarda porphyria cutanea tarda UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008296 MONDO:0100498 False familial porphyria cutanea tarda UROD-related inherited porphyria UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008297 MONDO:0002520 False variegate porphyria hepatic porphyria UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0008298 MONDO:0003847 False postaxial tetramelic oligodactyly hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008298 MONDO:0018234 False postaxial tetramelic oligodactyly dysostosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008298 MONDO:0019054 False postaxial tetramelic oligodactyly congenital limb malformation UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008299 MONDO:0003847 False posterior column ataxia hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008300 MONDO:0002320 False Prader-Willi syndrome congenital nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0008300 MONDO:0015160 False Prader-Willi syndrome multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008300 MONDO:0015770 False Prader-Willi syndrome congenital hypogonadotropic hypogonadism UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008300 MONDO:0019040 False Prader-Willi syndrome chromosomal disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0008300 MONDO:0100038 False Prader-Willi syndrome complex neurodevelopmental disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008300 MONDO:0100500 False Prader-Willi syndrome Mendelian neurodevelopmental disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008301 MONDO:0002254 False Guttmacher syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0008301 MONDO:0003847 False Guttmacher syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0008303 MONDO:0003847 False familial male-limited precocious puberty hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0008303 MONDO:0015791 False familial male-limited precocious puberty peripheral precocious puberty UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008304 MONDO:0003847 False premature chromatid separation trait hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008305 MONDO:0002254 False Currarino triad syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0008305 MONDO:0005039 False Currarino triad reproductive system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0008305 MONDO:0018230 False Currarino triad skeletal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008305 MONDO:0018234 False Currarino triad dysostosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0008306 MONDO:0005620 False ABri amyloidosis cerebral amyloid angiopathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0008306 MONDO:0018591 False ABri amyloidosis ITM2B amyloidosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008307 MONDO:0003847 False presenile dementia, Kraepelin type hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008308 MONDO:0003847 False priapism, familial idiopathic hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008308 MONDO:0700007 False priapism, familial idiopathic idiopathic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008309 MONDO:0000009 False primary release disorder of platelets inherited bleeding disorder, platelet-type UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0008310 MONDO:0006025 False Hutchinson-Gilford progeria syndrome autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0008310 MONDO:0019707 False Hutchinson-Gilford progeria syndrome primary osteolysis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008310 MONDO:0021106 False Hutchinson-Gilford progeria syndrome laminopathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008311 MONDO:0002254 False progeria-short stature-pigmented nevi syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008312 MONDO:0015161 False autosomal dominant prognathism multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008313 MONDO:0020573 False pelvic organ prolapse, susceptibility to inherited disease susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008314 MONDO:0003847 False pronation-supination of the forearm, impairment of hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008316 MONDO:0019145 False thrombophilia due to protein C deficiency, autosomal dominant hereditary thrombophilia due to congenital protein C deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0008317 MONDO:0003847 False proteolytic capacity of plasma hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008318 MONDO:0017623 False Proteus syndrome PTEN hamartoma tumor syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0008318 MONDO:0018230 False Proteus syndrome skeletal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008318 MONDO:0019716 False Proteus syndrome overgrowth syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008319 MONDO:0019263 False protoporphyria, erythropoietic, 1 autosomal erythropoietic protoporphyria UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008320 MONDO:0003847 False Protrusio acetabuli hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008321 MONDO:0003847 False pruritus, hereditary localized hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008322 MONDO:0005516 False pseudoachondroplasia osteochondrodysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0008322 MONDO:0018230 False pseudoachondroplasia skeletal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008323 MONDO:0006510 False Liddle syndrome renal tubular transport disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0008323 MONDO:0002254 False Liddle syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0008323 MONDO:0100191 False Liddle syndrome inherited kidney disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008324 MONDO:0003847 False pseudoarthrogryposis hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008325 MONDO:0003847 False Pseudoatrophoderma colli hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008327 MONDO:0001554 False exfoliation syndrome phacogenic glaucoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0008327 MONDO:0002289 False exfoliation syndrome iris disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0008327 MONDO:0002254 False exfoliation syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0008327 MONDO:0018174 False exfoliation syndrome hereditary glaucoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008328 MONDO:0005338 False glaucoma 1, open angle, P open-angle glaucoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008328 MONDO:0018174 False glaucoma 1, open angle, P hereditary glaucoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008329 MONDO:0019161 False autosomal dominant pseudohypoaldosteronism type 1 pseudohypoaldosteronism type 1 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008330 MONDO:0003847 False pseudomonilethrix hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008332 MONDO:0019565 False platelet-type von Willebrand disease hereditary von Willebrand disease UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0008333 MONDO:0100091 False pseudoxanthoma elasticum, forme fruste inherited pseudoxanthoma elasticum UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008334 MONDO:0100171 False psoriasis 1, susceptibility to psoriasis, susceptibility to UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008335 MONDO:0015161 False short stature-craniofacial anomalies-genital hypoplasia syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008336 MONDO:0003847 False pterygium colli, isolated hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008337 MONDO:0003847 False familial pterygium of the conjunctiva hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008337 MONDO:0005085 False familial pterygium of the conjunctiva pterygium UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008338 MONDO:0000426 False contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0008338 MONDO:0019942 False contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A distal arthrogryposis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS -MONDO:0008339 MONDO:0021154 False antecubital pterygium syndrome dermis disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008340 MONDO:0003847 False ptosis, hereditary congenital, 1 hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0008341 MONDO:0002254 False ptosis-strabismus-ectopic pupils syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008342 MONDO:0003847 False pubic bone dysplasia hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008343 MONDO:0003847 False pulmonary atresia with ventricular septal defect hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008343 MONDO:0016581 False pulmonary atresia with ventricular septal defect conotruncal heart malformations UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0008344 MONDO:0020573 False pulmonary edema of mountaineers, susceptibility to inherited disease susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008346 MONDO:0001436 False pulmonary hemosiderosis hemosiderosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0008346 MONDO:0015926 False pulmonary hemosiderosis pneumoconiosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0008348 MONDO:0005087 False pulmonary nodular lymphoid hyperplasia respiratory system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008349 MONDO:0003847 False pulmonic stenosis, atrial septal defect, and unique electrocardiographic abnormalities hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008350 MONDO:0003847 False pulmonic stenosis and deafness hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -16900,11 +22604,8 @@ MONDO:0008353 MONDO:0024575 False pruritic urticarial papules and plaques of pre MONDO:0008354 MONDO:0003847 False purpura simplex hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008356 MONDO:0003847 False radial heads, posterior dislocation of hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008357 MONDO:0002254 False radial hypoplasia-triphalangeal thumbs-hypospadias-maxillary diastema syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008357 MONDO:0015161 False radial hypoplasia-triphalangeal thumbs-hypospadias-maxillary diastema syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008358 MONDO:0002254 False radial ray hypoplasia-choanal atresia syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008359 MONDO:0003847 False radio-renal syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008359 MONDO:0018234 False radio-renal syndrome dysostosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008359 MONDO:0019054 False radio-renal syndrome congenital limb malformation UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008361 MONDO:0003847 False radius, aplasia of, with cleft lip/palate hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008362 MONDO:0003847 False ragweed sensitivity hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008363 MONDO:0003847 False raindrop hypopigmentation hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -16915,183 +22616,110 @@ MONDO:0008367 MONDO:0003847 False red cell phospholipid defect with hemolysis he MONDO:0008368 MONDO:0000426 False autosomal dominant distal renal tubular acidosis autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008369 MONDO:0001909 False proximal renal tubular acidosis renal tubular acidosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008371 MONDO:0000118 False Dowling-Degos disease reticulate pigment disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008371 MONDO:0017747 False Dowling-Degos disease disorder of fucoglycosan synthesis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008371 MONDO:0019289 False Dowling-Degos disease hyperpigmentation of the skin UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008372 MONDO:0018998 False retinal aplasia Leber congenital amaurosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING -MONDO:0008373 MONDO:0000473 False retinal arterial tortuosity arterial disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0008373 MONDO:0800461 False retinal arterial tortuosity COL4A1-related disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008374 MONDO:0000455 False retinal cone dystrophy type 1 cone dystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0008375 MONDO:0003847 False retinal detachment hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0008376 MONDO:0003847 False retinal venous beading hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008380 MONDO:0004338 False retinoblastoma retinal cell cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0008381 MONDO:0019200 False dominant pericentral pigmentary retinopathy retinitis pigmentosa UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS MONDO:0008382 MONDO:0000426 False retinoschisis, autosomal dominant autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008382 MONDO:0004579 False retinoschisis, autosomal dominant retinoschisis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008382 MONDO:0019118 False retinoschisis, autosomal dominant inherited retinal dystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008383 MONDO:0000589 False rheumatoid arthritis autoimmune disorder of musculoskeletal system UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0008383 MONDO:0005554 False rheumatoid arthritis rheumatic disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0008384 MONDO:0024280 False rheumatoid nodulosis polyarticular arthritis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008385 MONDO:0003847 False rhiny hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008387 MONDO:0003847 False ring dermoid of cornea hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0008387 MONDO:0021220 False ring dermoid of cornea eye neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008388 MONDO:0019278 False ringed hair disease hair anomaly UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008389 MONDO:0000426 False autosomal dominant Robinow syndrome autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008389 MONDO:0019978 False autosomal dominant Robinow syndrome Robinow syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008390 MONDO:0002051 False Rombo syndrome integumentary system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008390 MONDO:0003847 False Rombo syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008391 MONDO:0003847 False Robinow-Sorauf syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008392 MONDO:0002254 False Roussy-Levy syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008392 MONDO:0003847 False Roussy-Levy syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008394 MONDO:0002254 False Silver-Russell syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0008394 MONDO:0003847 False Silver-Russell syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0008394 MONDO:0015160 False Silver-Russell syndrome multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008394 MONDO:0019040 False Silver-Russell syndrome chromosomal disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0008395 MONDO:0002254 False Ruvalcaba syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008396 MONDO:0002254 False oculodental syndrome, Rutherfurd type syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008396 MONDO:0021147 False oculodental syndrome, Rutherfurd type disorder of development or morphogenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008397 MONDO:0002254 False aplasia of lacrimal and salivary glands syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0008397 MONDO:0003847 False aplasia of lacrimal and salivary glands hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0008398 MONDO:0003847 False salivary substance, Clostridium botulinum type hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008399 MONDO:0020573 False sarcoidosis, susceptibility to, 1 inherited disease susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008400 MONDO:0003847 False salivary duct calculi hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008401 MONDO:0000385 False pleomorphic adenoma benign digestive system neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0008401 MONDO:0003847 False pleomorphic adenoma hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0008401 MONDO:0017168 False pleomorphic adenoma benign epithelial tumor of salivary glands UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008402 MONDO:0003847 False cleft palate-large ears-small head syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008403 MONDO:0002254 False scalp defects-postaxial polydactyly syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008403 MONDO:0005172 False scalp defects-postaxial polydactyly syndrome skeletal system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008403 MONDO:0019054 False scalp defects-postaxial polydactyly syndrome congenital limb malformation UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008403 MONDO:0019294 False scalp defects-postaxial polydactyly syndrome mixed dermis disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008403 MONDO:0100118 False scalp defects-postaxial polydactyly syndrome hereditary skin disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008404 MONDO:0015161 False scalp-ear-nipple syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008404 MONDO:0019287 False scalp-ear-nipple syndrome ectodermal dysplasia syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS -MONDO:0008404 MONDO:0019294 False scalp-ear-nipple syndrome mixed dermis disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008407 MONDO:0016187 False neurogenic scapuloperoneal syndrome, Kaeser type qualitative or quantitative defects of desmin UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008407 MONDO:0024257 False neurogenic scapuloperoneal syndrome, Kaeser type hereditary motor neuron disease UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008408 MONDO:0000426 False scapuloperoneal spinal muscular atrophy, autosomal dominant autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0008408 MONDO:0001516 False scapuloperoneal spinal muscular atrophy, autosomal dominant spinal muscular atrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0008408 MONDO:0024257 False scapuloperoneal spinal muscular atrophy, autosomal dominant hereditary motor neuron disease UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008409 MONDO:0000727 False congenital myopathy 7A, myosin storage, autosomal dominant scapuloperoneal myopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0008409 MONDO:0002320 False congenital myopathy 7A, myosin storage, autosomal dominant congenital nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0008409 MONDO:0016195 False congenital myopathy 7A, myosin storage, autosomal dominant qualitative or quantitative defects of beta-myosin heavy chain (MYH7) UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008409 MONDO:0019952 False congenital myopathy 7A, myosin storage, autosomal dominant congenital myopathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS MONDO:0008410 MONDO:0018383 False Scheuermann disease osteonecrosis of genetic origin UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008411 MONDO:0002254 False ulnar-mammary syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0008411 MONDO:0015160 False ulnar-mammary syndrome multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008411 MONDO:0019713 False ulnar-mammary syndrome non-syndromic limb reduction defect UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008412 MONDO:0015254 False intestinal schistosomiasis schistosomiasis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0008412 MONDO:0024271 False intestinal schistosomiasis intestinal helminthiasis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008414 MONDO:0005090 False schizophrenia 1 schizophrenia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS -MONDO:0008416 MONDO:0017666 False palmoplantar keratoderma-sclerodactyly syndrome diffuse palmoplantar keratoderma UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008417 MONDO:0019629 False sclerocornea, autosomal dominant sclerocornea UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008418 MONDO:0005100 False scleroderma, familial progressive systemic sclerosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008419 MONDO:0020573 False scoliosis, isolated, susceptibility to, 1 inherited disease susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008420 MONDO:0006566 False seborrheic keratosis keratosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0008420 MONDO:0100118 False seborrheic keratosis hereditary skin disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008421 MONDO:0015161 False flat face-microstomia-ear anomaly syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008422 MONDO:0000426 False autosomal dominant sideroblastic anemia autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0008423 MONDO:0012061 False sinus node disease and myopia familial sick sinus syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0008424 MONDO:0003847 False sella turcica, bridged hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008425 MONDO:0015159 False omphalocele syndrome, Shprintzen-Goldberg type multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008426 MONDO:0015159 False Shprintzen-Goldberg syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008426 MONDO:0015338 False Shprintzen-Goldberg syndrome syndromic craniosynostosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008426 MONDO:0017310 False Shprintzen-Goldberg syndrome Marfan and Marfan-related disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008427 MONDO:0003847 False sister chromatid exchange, frequency of hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008428 MONDO:0000429 False septooptic dysplasia autosomal genetic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0008429 MONDO:0002254 False Singleton-Merten dysplasia syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008429 MONDO:0023603 False Singleton-Merten dysplasia hereditary disorder of connective tissue UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008430 MONDO:0003847 False skeletal dysplasia with delayed epiphyseal and carpal bone ossification hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008431 MONDO:0003847 False slipped femoral capital epiphyses hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008433 MONDO:0003847 False small cell lung carcinoma hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0008434 MONDO:0000508 False Smith-Magenis syndrome syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0008434 MONDO:0000761 False Smith-Magenis syndrome syndrome caused by partial chromosomal deletion UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0008434 MONDO:0002320 False Smith-Magenis syndrome congenital nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0008434 MONDO:0003847 False Smith-Magenis syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0008434 MONDO:0015159 False Smith-Magenis syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008435 MONDO:0003847 False Somatomedin, embryonic hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008436 MONDO:0000473 False Sneddon syndrome arterial disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0008436 MONDO:0019293 False Sneddon syndrome skin vascular disease UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0008436 MONDO:0100118 False Sneddon syndrome hereditary skin disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008436 MONDO:0100317 False Sneddon syndrome deficiency of adenosine deaminase 2 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008438 MONDO:0100523 False hereditary spastic paraplegia 4 SPAST-related motor disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008439 MONDO:0015087 False spastic paraplegia-epilepsy-intellectual disability syndrome autosomal dominant complex spastic paraplegia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008440 MONDO:0015087 False spastic paraplegia-nephritis-deafness syndrome autosomal dominant complex spastic paraplegia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008441 MONDO:0003847 False spastic paraplegia with associated extrapyramidal signs hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008442 MONDO:0015087 False spastic paraplegia-neuropathy-poikiloderma syndrome autosomal dominant complex spastic paraplegia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008443 MONDO:0015087 False spastic paraplegia-precocious puberty syndrome autosomal dominant complex spastic paraplegia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008444 MONDO:0003847 False spastic paraplegia, optic atrophy, and dementia hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008445 MONDO:0015159 False delayed speech-facial asymmetry-strabismus-ear lobe creases syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008446 MONDO:0003847 False sperm protamine P4 hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008447 MONDO:0019350 False hereditary spherocytosis type 1 hereditary spherocytosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0008449 MONDO:0002320 False spina bifida congenital nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0008449 MONDO:0002545 False spina bifida spinal cord disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0008449 MONDO:0021147 False spina bifida disorder of development or morphogenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008451 MONDO:0015362 False neuronopathy, distal hereditary motor, autosomal dominant 1 neuronopathy, distal hereditary motor, autosomal dominant UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS +MONDO:0008450 MONDO:0015304 False spinal arachnoiditis arachnoiditis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008451 MONDO:0015626 False neuronopathy, distal hereditary motor, autosomal dominant 1 Charcot-Marie-Tooth disease UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS MONDO:0008452 MONDO:0001516 False spinal muscular atrophy, facioscapulohumeral type spinal muscular atrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008453 MONDO:0001516 False adult-onset proximal spinal muscular atrophy, autosomal dominant spinal muscular atrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0008453 MONDO:0024257 False adult-onset proximal spinal muscular atrophy, autosomal dominant hereditary motor neuron disease UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008454 MONDO:0008813 False spinal intradural arachnoid cysts arachnoid cyst UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008455 MONDO:0001516 False spinal muscular atrophy, segmental spinal muscular atrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008456 MONDO:0003847 False spinocerebellar ataxia with rigidity and peripheral neuropathy hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008457 MONDO:0019793 False spinocerebellar ataxia type 6 autosomal dominant cerebellar ataxia type III UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008457 MONDO:0100254 False spinocerebellar ataxia type 6 CACNA1A-related complex neurodevelopmental disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008458 MONDO:0015548 False spinocerebellar ataxia type 2 Huntington disease-like syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008458 MONDO:0019792 False spinocerebellar ataxia type 2 autosomal dominant cerebellar ataxia type I UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008459 MONDO:0003847 False spinocerebellar atrophy with pupillary paralysis hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008460 MONDO:0003847 False splenogonadal fusion-limb defects-micrognathia syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008460 MONDO:0018234 False splenogonadal fusion-limb defects-micrognathia syndrome dysostosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008460 MONDO:0019054 False splenogonadal fusion-limb defects-micrognathia syndrome congenital limb malformation UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008461 MONDO:0003847 False splenomegaly syndrome with splenic Germinal center hypoplasia and reduced circulating T helper cells hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008462 MONDO:0003847 False split lower lip hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008463 MONDO:0003847 False split-hand and split-foot with hypodontia hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008465 MONDO:0018237 False Patterson-Stevenson-Fontaine syndrome acrofacial dysostosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008466 MONDO:0003847 False Karsch-Neugebauer syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008466 MONDO:0018234 False Karsch-Neugebauer syndrome dysostosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008466 MONDO:0019054 False Karsch-Neugebauer syndrome congenital limb malformation UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008467 MONDO:0002254 False Czeizel-Losonci syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008467 MONDO:0015161 False Czeizel-Losonci syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008469 MONDO:0100510 False spondyloepimetaphyseal dysplasia-hypotrichosis syndrome spondyloepimetaphyseal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008470 MONDO:0016761 False spondyloepiphyseal dysplasia with punctate corneal dystrophy spondyloepiphyseal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0008471 MONDO:0016761 False spondyloepiphyseal dysplasia congenita spondyloepiphyseal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0008471 MONDO:0022800 False spondyloepiphyseal dysplasia congenita type 2 collagenopathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008472 MONDO:0016761 False spondyloepiphyseal dysplasia, MacDermot type spondyloepiphyseal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008473 MONDO:0018240 False spondyloepimetaphyseal dysplasia, Maroteaux type TRPV4-related bone disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008473 MONDO:0100510 False spondyloepimetaphyseal dysplasia, Maroteaux type spondyloepimetaphyseal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0008474 MONDO:0000426 False spondyloepiphyseal dysplasia tarda, autosomal dominant autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0008474 MONDO:0019667 False spondyloepiphyseal dysplasia tarda, autosomal dominant spondyloepiphyseal dysplasia tarda UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0008475 MONDO:0000836 False spondylolisthesis disease of bone structure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0008475 MONDO:0003847 False spondylolisthesis hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0008476 MONDO:0022800 False spondyloepimetaphyseal dysplasia, Strudwick type type 2 collagenopathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008476 MONDO:0100510 False spondyloepimetaphyseal dysplasia, Strudwick type spondyloepimetaphyseal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0008477 MONDO:0018240 False spondylometaphyseal dysplasia, Kozlowski type TRPV4-related bone disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008478 MONDO:0016763 False spondylometaphyseal dysplasia, Schmidt type spondylometaphyseal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS -MONDO:0008478 MONDO:0022800 False spondylometaphyseal dysplasia, Schmidt type type 2 collagenopathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008479 MONDO:0022800 False spondylometaphyseal dysplasia, 'corner fracture' type type 2 collagenopathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008481 MONDO:0003847 False spondylosis, cervical hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008482 MONDO:0015929 False Sprengel deformity thoracic malformation UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008484 MONDO:0100521 False stapes ankylosis with broad thumbs and toes NOG-related symphalangism spectrum disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008485 MONDO:0006607 False sebocystomatosis sebaceous gland disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0008485 MONDO:0100118 False sebocystomatosis hereditary skin disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008486 MONDO:0021147 False steatocystoma multiplex-natal teeth syndrome disorder of development or morphogenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008487 MONDO:0002254 False polycystic ovary syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0008487 MONDO:0003847 False polycystic ovary syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0008487 MONDO:0005151 False polycystic ovary syndrome endocrine system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0008488 MONDO:0015159 False holoprosencephaly-radial heart renal anomalies syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008489 MONDO:0003847 False sternum, premature obliteration of sutures of hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008490 MONDO:0015161 False otospondylomegaepiphyseal dysplasia, autosomal dominant multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008491 MONDO:0005071 False stiff-person syndrome nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0008491 MONDO:0002254 False stiff-person syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0008492 MONDO:0100118 False stiff skin syndrome hereditary skin disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008493 MONDO:0020102 False overhydrated hereditary stomatocytosis hereditary stomatocytosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008494 MONDO:0020102 False cryohydrocytosis hereditary stomatocytosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008495 MONDO:0018795 False platelet storage pool deficiency syndromic constitutional thrombocytopenia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008496 MONDO:0003847 False storm syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008497 MONDO:0018795 False Stormorken syndrome syndromic constitutional thrombocytopenia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008498 MONDO:0020573 False strabismus, susceptibility to inherited disease susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008499 MONDO:0015160 False short stature-wormian bones-dextrocardia syndrome multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008500 MONDO:0003847 False striae distensae, familial hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008501 MONDO:0003847 False Sturge-Weber syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0008501 MONDO:0005328 False Sturge-Weber syndrome eye disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0008501 MONDO:0042983 False Sturge-Weber syndrome neurocutaneous syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008502 MONDO:0006988 False sulfhemoglobinemia, congenital sulfhemoglobinemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008502 MONDO:0009332 False sulfhemoglobinemia, congenital congenital hematological disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008502 MONDO:0019050 False sulfhemoglobinemia, congenital inherited hemoglobinopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008503 MONDO:0005071 False Worster-Drought syndrome nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008504 MONDO:0003847 False supravalvular aortic stenosis hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0008504 MONDO:0042981 False supravalvular aortic stenosis aortic valve stenosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0008505 MONDO:0003847 False surface antigen, glycoprotein 75 hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008506 MONDO:0000151 False symphalangism of toes symphalangism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008506 MONDO:0003847 False symphalangism of toes hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -17103,31 +22731,23 @@ MONDO:0008509 MONDO:0003847 False distal symphalangism hereditary disease UNSUPP MONDO:0008509 MONDO:0021147 False distal symphalangism disorder of development or morphogenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008510 MONDO:0000151 False symphalangism with multiple anomalies of hands and feet symphalangism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008510 MONDO:0003847 False symphalangism with multiple anomalies of hands and feet hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008510 MONDO:0019054 False symphalangism with multiple anomalies of hands and feet congenital limb malformation UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008511 MONDO:0000151 False proximal symphalangism symphalangism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008511 MONDO:0000426 False proximal symphalangism autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0008511 MONDO:0019054 False proximal symphalangism congenital limb malformation UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008512 MONDO:0016953 False syndactyly type 1 partial duplication of the long arm of chromosome 2 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008512 MONDO:0019530 False syndactyly type 1 non-syndromic syndactyly UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008512 MONDO:0800066 False syndactyly type 1 polydactyly-syndactyly-triphalangism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008513 MONDO:0000722 False synpolydactyly type 1 non-syndromic synpolydactyly UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008513 MONDO:0011348 False synpolydactyly type 1 non-syndromic polydactyly UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008513 MONDO:0800066 False synpolydactyly type 1 polydactyly-syndactyly-triphalangism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008514 MONDO:0019530 False syndactyly type 3 non-syndromic syndactyly UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008514 MONDO:0800066 False syndactyly type 3 polydactyly-syndactyly-triphalangism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008515 MONDO:0019530 False syndactyly type 4 non-syndromic syndactyly UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008515 MONDO:0800066 False syndactyly type 4 polydactyly-syndactyly-triphalangism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008516 MONDO:0019530 False syndactyly type 5 non-syndromic syndactyly UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008516 MONDO:0800066 False syndactyly type 5 polydactyly-syndactyly-triphalangism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008517 MONDO:0002254 False syndactyly-polydactyly-ear lobe syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008518 MONDO:0000426 False calcaneonavicular coalition autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0008518 MONDO:0001411 False calcaneonavicular coalition synostosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0008519 MONDO:0100521 False multiple synostoses syndrome 1 NOG-related symphalangism spectrum disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008520 MONDO:0005497 False brachydactyly-elbow wrist dysplasia syndrome bone development disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008520 MONDO:0018230 False brachydactyly-elbow wrist dysplasia syndrome skeletal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008521 MONDO:0019054 False tarsal-carpal coalition syndrome congenital limb malformation UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008521 MONDO:0100521 False tarsal-carpal coalition syndrome NOG-related symphalangism spectrum disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008522 MONDO:0003847 False synovial chondromatosis, familial, with dwarfism hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008523 MONDO:0007179 False Blau syndrome autoimmune disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS MONDO:0008523 MONDO:0019338 False Blau syndrome sarcoidosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0008523 MONDO:0023603 False Blau syndrome hereditary disorder of connective tissue UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008524 MONDO:0003847 False syringomas, multiple hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -17139,43 +22759,31 @@ MONDO:0008529 MONDO:0003847 False T-cell Subgroups, non-HLA-linked hereditary di MONDO:0008530 MONDO:0003847 False teeth, odd shapes of hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008532 MONDO:0003847 False teeth present at birth hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008533 MONDO:0003847 False teeth, supernumerary hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008534 MONDO:0019293 False generalized essential telangiectasia skin vascular disease UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008536 MONDO:0003847 False temperature-sensitive lethal mutation hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008537 MONDO:0003382 False telecanthus eyelid disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008538 MONDO:0003346 False temporal arteritis central nervous system vasculitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0008540 MONDO:0019054 False extensor tendons of finger anomalies congenital limb malformation UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008538 MONDO:0002341 False temporal arteritis granulomatous angiitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0008541 MONDO:0003847 False spermatic cord torsion hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0008542 MONDO:0003847 False tetralogy of fallot hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0008542 MONDO:0016581 False tetralogy of fallot conotruncal heart malformations UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0008543 MONDO:0003847 False tetralogy of fallot and glaucoma hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008544 MONDO:0003847 False tetramelic monodactyly hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008544 MONDO:0018234 False tetramelic monodactyly dysostosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008544 MONDO:0019054 False tetramelic monodactyly congenital limb malformation UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008545 MONDO:0019402 False thalassemia, beta+, silent allele beta thalassemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008546 MONDO:0000426 False thanatophoric dysplasia type 1 autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008549 MONDO:0003847 False thoracic dysostosis, isolated hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008551 MONDO:0015929 False thoracolaryngopelvic dysplasia thoracic malformation UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008551 MONDO:0019691 False thoracolaryngopelvic dysplasia short rib dysplasia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008552 MONDO:0021181 False platelet-type bleeding disorder 16 inherited blood coagulation disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008554 MONDO:0019713 False thrombocythemia 1 non-syndromic limb reduction defect UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008556 MONDO:0100241 False thrombocytopenia, cyclic inherited thrombocytopenia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING -MONDO:0008557 MONDO:0016910 False Paris-Trousseau thrombocytopenia partial deletion of the long arm of chromosome 11 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008557 MONDO:0020117 False Paris-Trousseau thrombocytopenia alpha granule disease UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008558 MONDO:0000009 False autoimmune thrombocytopenic purpura inherited bleeding disorder, platelet-type UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS -MONDO:0008558 MONDO:0004680 False autoimmune thrombocytopenic purpura primary thrombocytopenia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0008558 MONDO:0019098 False autoimmune thrombocytopenic purpura autoimmune thrombocytopenia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008558 MONDO:0021181 False autoimmune thrombocytopenic purpura inherited blood coagulation disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008558 MONDO:0043768 False autoimmune thrombocytopenic purpura thrombocytopenic purpura UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008558 MONDO:0100241 False autoimmune thrombocytopenic purpura inherited thrombocytopenia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0008560 MONDO:0002242 False thrombophilia due to activated protein C resistance coagulation protein disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008561 MONDO:0003847 False thumb deformity hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008562 MONDO:0019054 False thumb deformity-alopecia-pigmentation anomaly syndrome congenital limb malformation UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008563 MONDO:0019054 False thumb stiffness-brachydactyly-intellectual disability syndrome congenital limb malformation UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008564 MONDO:0001222 False DiGeorge syndrome congenital T-cell immunodeficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0008564 MONDO:0018923 False DiGeorge syndrome 22q11.2 deletion syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008564 MONDO:0021635 False DiGeorge syndrome neurocristopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008565 MONDO:0005586 False familial thyroglossal duct cyst head and neck neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008565 MONDO:0006460 False familial thyroglossal duct cyst thyroglossal duct cyst UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008565 MONDO:0015074 False familial thyroglossal duct cyst thyroid tumor UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008565 MONDO:0015476 False familial thyroglossal duct cyst cysts and fistulae of the face and oral cavity UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008565 MONDO:0018751 False familial thyroglossal duct cyst hereditary otorhinolaryngologic disease UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008566 MONDO:0005034 False thyroid cancer, nonmedullary, 2 thyroid gland follicular carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008566 MONDO:0017895 False thyroid cancer, nonmedullary, 2 familial papillary or follicular thyroid carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -17184,10 +22792,9 @@ MONDO:0008568 MONDO:0003847 False thyroid hormone plasma membrane transport defe MONDO:0008569 MONDO:0009043 False thyroid hormone resistance, generalized, autosomal dominant generalized resistance to thyroid hormone UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008570 MONDO:0020573 False thyrotoxic periodic paralysis, susceptibility to, 1 inherited disease susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008571 MONDO:0017194 False Blount disease, infantile Blount disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008572 MONDO:0018234 False tibia, hypoplasia or aplasia of, with polydactyly dysostosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0008572 MONDO:0019054 False tibia, hypoplasia or aplasia of, with polydactyly congenital limb malformation UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008572 MONDO:0019713 False tibia, hypoplasia or aplasia of, with polydactyly non-syndromic limb reduction defect UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008573 MONDO:0003847 False tibial torsion, bilateral medial hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008575 MONDO:0005303 False nicotine dependence drug dependence UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0008576 MONDO:0003847 False toe, fifth, number of phalanges 1N hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008577 MONDO:0003847 False toe, misshapen hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008578 MONDO:0003847 False toe, rotated fifth hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -17196,49 +22803,32 @@ MONDO:0008580 MONDO:0003847 False toes, space between first and second hereditar MONDO:0008581 MONDO:0003847 False malposition of teeth with or without hypodontia/oligodontia hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008583 MONDO:0023603 False inherited torticollis hereditary disorder of connective tissue UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008584 MONDO:0003847 False torus palatinus and torus mandibularis hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008585 MONDO:0001641 False HELLP syndrome severe pre-eclampsia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0008585 MONDO:0002254 False HELLP syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0008586 MONDO:0003749 False esophageal atresia/tracheoesophageal fistula esophageal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0008587 MONDO:0005087 False tracheobronchopathia osteochondroplastica respiratory system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008588 MONDO:0005395 False hereditary geniospasm movement disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008589 MONDO:0003847 False tremor of intention, ataxia, and lipofuscinosis hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008591 MONDO:0005395 False tremor-nystagmus-duodenal ulcer syndrome movement disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008592 MONDO:0018230 False tricho-dento-osseous syndrome skeletal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008592 MONDO:0019287 False tricho-dento-osseous syndrome ectodermal dysplasia syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS MONDO:0008593 MONDO:0003847 False trichomegaly hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008594 MONDO:0002531 False familial multiple discoid fibromas skin neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008594 MONDO:0100118 False familial multiple discoid fibromas hereditary skin disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008595 MONDO:0003847 False trichoepitheliomas, multiple desmoplastic hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008596 MONDO:0000426 False trichorhinophalangeal syndrome type I autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0008597 MONDO:0000426 False trichorhinophalangeal syndrome, type III autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0008598 MONDO:0019278 False trichodysplasia-xeroderma syndrome hair anomaly UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008599 MONDO:0002602 False trigeminal neuralgia central nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0008599 MONDO:0003543 False trigeminal neuralgia trigeminal nerve disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0008599 MONDO:0016374 False trigeminal neuralgia cranial neuralgia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008600 MONDO:0003847 False trigger thumb hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008601 MONDO:0000155 False triglyceride storage disease, type 1 triglyceride storage disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008602 MONDO:0000155 False triglyceride storage disease, type 2 triglyceride storage disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008604 MONDO:0003847 False triphalangeal thumb with double phalanges hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008605 MONDO:0003847 False triphalangeal thumb, Nonopposable hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008606 MONDO:0019054 False Say-field-Coldwell syndrome congenital limb malformation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008607 MONDO:0019054 False triphalangeal thumbs-brachyectrodactyly syndrome congenital limb malformation UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008608 MONDO:0700124 False Down syndrome chromosome 21 disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008609 MONDO:0003847 False Tristichiasis hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008610 MONDO:0001703 False blue color blindness color vision disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0008610 MONDO:0003847 False blue color blindness hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0008611 MONDO:0003847 False humerus trochlea aplasia hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008611 MONDO:0018234 False humerus trochlea aplasia dysostosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008611 MONDO:0019054 False humerus trochlea aplasia congenital limb malformation UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008613 MONDO:0003847 False Tuftsin deficiency hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008614 MONDO:0003847 False suppressor of tumorigenicity 3 hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008615 MONDO:0003847 False tune deafness hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008618 MONDO:0018230 False mesomelic dwarfism, Reinhardt-Pfeiffer type skeletal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008618 MONDO:0023599 False mesomelic dwarfism, Reinhardt-Pfeiffer type mesomelic dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008619 MONDO:0005516 False ulna metaphyseal dysplasia syndrome osteochondrodysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008619 MONDO:0018230 False ulna metaphyseal dysplasia syndrome skeletal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008620 MONDO:0018230 False upper limb mesomelic dysplasia skeletal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008620 MONDO:0023599 False upper limb mesomelic dysplasia mesomelic dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008621 MONDO:0019278 False uncombable hair syndrome hair anomaly UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008622 MONDO:0019287 False tricho-retino-dento-digital syndrome ectodermal dysplasia syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0008623 MONDO:0003847 False Undritz anomaly hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008624 MONDO:0002081 False Upington disease musculoskeletal system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008624 MONDO:0003847 False Upington disease hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -17249,16 +22839,12 @@ MONDO:0008629 MONDO:0003847 False urolithiasis, uric acid, autosomal dominant he MONDO:0008630 MONDO:0003847 False urinary bladder, atony of hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008632 MONDO:0005492 False urticaria, aquagenic urticaria UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008632 MONDO:0100118 False urticaria, aquagenic hereditary skin disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008633 MONDO:0000426 False Muckle-Wells syndrome autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0008633 MONDO:0016168 False Muckle-Wells syndrome cryopyrin-associated periodic syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008634 MONDO:0005492 False urticaria, familial localized heat urticaria UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008634 MONDO:0100118 False urticaria, familial localized heat hereditary skin disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008635 MONDO:0003847 False uterine anomalies hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008636 MONDO:0002254 False double uterus-hemivagina-renal agenesis syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008636 MONDO:0005039 False double uterus-hemivagina-renal agenesis syndrome reproductive system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008636 MONDO:0021147 False double uterus-hemivagina-renal agenesis syndrome disorder of development or morphogenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008637 MONDO:0016064 False bifid uvula cleft palate UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008638 MONDO:0004634 False varicose disease vein disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0008639 MONDO:0003847 False vascular helix of umbilical cord hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008640 MONDO:0018882 False vasculitis, lymphocytic, nodular vasculitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008640 MONDO:0100118 False vasculitis, lymphocytic, nodular hereditary skin disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -17267,119 +22853,57 @@ MONDO:0008641 MONDO:0002311 False retinal vasculopathy with cerebral leukoenceph MONDO:0008641 MONDO:0019118 False retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations inherited retinal dystrophy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0008643 MONDO:0003847 False veins, pattern of, on anterior thorax hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008644 MONDO:0018923 False velocardiofacial syndrome 22q11.2 deletion syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008645 MONDO:0015161 False ventricular extrasystoles with syncopal episodes-perodactyly-robin sequence syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008648 MONDO:0003847 False ventricular tachycardia, familial hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008648 MONDO:0005477 False ventricular tachycardia, familial ventricular tachycardia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008649 MONDO:0003847 False venular insufficiency, systemic hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008650 MONDO:0002254 False posterior fusion of lumbosacral vertebrae-blepharoptosis syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008650 MONDO:0015161 False posterior fusion of lumbosacral vertebrae-blepharoptosis syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008651 MONDO:0003847 False vertebral hypoplasia with lumbar kyphosis hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008652 MONDO:0003847 False congenital vertical talus hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0008652 MONDO:0017427 False congenital vertical talus congenital deformities of limbs UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008654 MONDO:0020380 False spinocerebellar ataxia 27A autosomal dominant cerebellar ataxia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0008654 MONDO:0005712 False spinocerebellar ataxia 27A congenital nystagmus UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0008655 MONDO:0003847 False vestibulocochlear dysfunction, progressive hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008659 MONDO:0019220 False transcobalamin I deficiency inborn disorder of cobalamin metabolism and transport UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008660 MONDO:0000426 False autosomal dominant hypophosphatemic rickets autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0008660 MONDO:0800096 False autosomal dominant hypophosphatemic rickets abnormal mineralization disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008661 MONDO:0007179 False vitiligo autoimmune disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0008661 MONDO:0002406 False vitiligo dermatitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0008662 MONDO:0700240 False autosomal dominant vitreoretinochoroidopathy BEST1-related vitreoretinochoroidopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008663 MONDO:0020248 False snowflake vitreoretinal degeneration vitreoretinal degeneration UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008665 MONDO:0002254 False ptosis-vocal cord paralysis syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008666 MONDO:0003847 False volvulus of midgut hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008668 MONDO:0019565 False von Willebrand disease 1 hereditary von Willebrand disease UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0008667 MONDO:0042983 False von Hippel-Lindau disease neurocutaneous syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008669 MONDO:0005271 False vulvovaginitis, allergic seminal allergic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008669 MONDO:0007019 False vulvovaginitis, allergic seminal vulvovaginitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008671 MONDO:0019517 False Waardenburg syndrome type 2A Waardenburg syndrome type 2 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008672 MONDO:0011035 False Watson syndrome neurofibromatosis-Noonan syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING -MONDO:0008673 MONDO:0015161 False acrofacial dysostosis, Weyers type multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008673 MONDO:0018237 False acrofacial dysostosis, Weyers type acrofacial dysostosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0008673 MONDO:0019287 False acrofacial dysostosis, Weyers type ectodermal dysplasia syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS +MONDO:0008675 MONDO:0002254 False Freeman-Sheldon syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0008675 MONDO:0002320 False Freeman-Sheldon syndrome congenital nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0008675 MONDO:0015161 False Freeman-Sheldon syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008678 MONDO:0016906 False Williams syndrome partial deletion of the long arm of chromosome 7 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008675 MONDO:0008779 False Freeman-Sheldon syndrome arthrogryposis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008678 MONDO:0700092 False Williams syndrome neurodevelopmental disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008681 MONDO:0016893 False WAGR syndrome partial deletion of the short arm of chromosome 11 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008681 MONDO:0020040 False WAGR syndrome 46,XY disorder of sex development UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008682 MONDO:0000426 False Denys-Drash syndrome autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0008682 MONDO:0020040 False Denys-Drash syndrome 46,XY disorder of sex development UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008684 MONDO:0015159 False Wolf-Hirschhorn syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008684 MONDO:0022762 False Wolf-Hirschhorn syndrome chromosome 4 short arm deletion UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008685 MONDO:0000992 False Wolff-Parkinson-White syndrome heart conduction disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0008684 MONDO:0002254 False Wolf-Hirschhorn syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0008685 MONDO:0800484 False Wolff-Parkinson-White syndrome PRKAG2-related cardiomyopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008686 MONDO:0019278 False isolated familial wooly hair disorder hair anomaly UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008687 MONDO:0003847 False Woronets trait hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008688 MONDO:0001713 False WT limb-blood syndrome inherited aplastic anemia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008689 MONDO:0003689 False dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema familial hemolytic anemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0008689 MONDO:0017910 False dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema dehydrated hereditary stomatocytosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0008690 MONDO:0019600 False xeroderma pigmentosum, autosomal dominant, mild xeroderma pigmentosum UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008691 MONDO:0003847 False zinc, elevated plasma hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008692 MONDO:0003689 False abetalipoproteinemia familial hemolytic anemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0008692 MONDO:0005020 False abetalipoproteinemia intestinal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0008692 MONDO:0017774 False abetalipoproteinemia hypobetalipoproteinemia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0008692 MONDO:0020044 False abetalipoproteinemia autosomal recessive metabolic cerebellar ataxia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008692 MONDO:0020127 False abetalipoproteinemia hereditary peripheral neuropathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008693 MONDO:0002254 False ablepharon macrostomia syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0008693 MONDO:0003847 False ablepharon macrostomia syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0008693 MONDO:0015160 False ablepharon macrostomia syndrome multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008694 MONDO:0015159 False pseudoprogeria syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008695 MONDO:0016987 False chorea-acanthocytosis neuroacanthocytosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0008695 MONDO:0019268 False chorea-acanthocytosis epidermal disease UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008695 MONDO:0020127 False chorea-acanthocytosis hereditary peripheral neuropathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008695 MONDO:0100118 False chorea-acanthocytosis hereditary skin disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008696 MONDO:0007035 False acanthosis nigricans-insulin resistance-muscle cramps-acral enlargement syndrome acanthosis nigricans UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008696 MONDO:0019268 False acanthosis nigricans-insulin resistance-muscle cramps-acral enlargement syndrome epidermal disease UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008698 MONDO:0003749 False achalasia esophageal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0008699 MONDO:0006025 False achalasia microcephaly syndrome autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0008700 MONDO:0005516 False acheiropody osteochondrodysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0008700 MONDO:0019713 False acheiropody non-syndromic limb reduction defect UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008701 MONDO:0800080 False achondrogenesis type IA severe spondylodysplastic dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008702 MONDO:0022800 False achondrogenesis type II type 2 collagenopathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008704 MONDO:0017855 False short-limb skeletal dysplasia with severe combined immunodeficiency T-B- severe combined immunodeficiency UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008705 MONDO:0002561 False lysosomal acid phosphatase deficiency lysosomal storage disease UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008706 MONDO:0015161 False Ackerman syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008706 MONDO:0019287 False Ackerman syndrome ectodermal dysplasia syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING -MONDO:0008707 MONDO:0015161 False acro-renal-mandibular syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008708 MONDO:0015159 False acrocallosal syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008703 MONDO:0019648 False acromesomelic dysplasia 2A achondrogenesis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS MONDO:0008708 MONDO:0800066 False acrocallosal syndrome polydactyly-syndactyly-triphalangism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008708 MONDO:0800463 False acrocallosal syndrome KIF7-related ciliopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008709 MONDO:0015338 False acrocephalopolydactyly syndromic craniosynostosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008711 MONDO:0000078 False Goodman syndrome acrocephalopolysyndactyly UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008711 MONDO:0015160 False Goodman syndrome multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008712 MONDO:0015161 False acrocraniofacial dysostosis multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008712 MONDO:0018237 False acrocraniofacial dysostosis acrofacial dysostosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008713 MONDO:0004689 False acrodermatitis enteropathica inborn metal metabolism disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0008713 MONDO:0017764 False acrodermatitis enteropathica disorder of zinc metabolism UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008714 MONDO:0015159 False acrofacial dysostosis Rodriguez type multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008714 MONDO:0018237 False acrofacial dysostosis Rodriguez type acrofacial dysostosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0008715 MONDO:0018237 False acrofrontofacionasal dysostosis acrofacial dysostosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0008716 MONDO:0019303 False acrogeria premature aging syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008716 MONDO:0100118 False acrogeria hereditary skin disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008718 MONDO:0019119 False Morvan syndrome muscular channelopathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008719 MONDO:0006025 False acrorenal syndrome, autosomal recessive autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008719 MONDO:0007059 False acrorenal syndrome, autosomal recessive acrorenal syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0008720 MONDO:0013099 False congenital isolated adrenocorticotropic hormone deficiency combined pituitary hormone deficiencies, genetic form UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0008720 MONDO:0016553 False congenital isolated adrenocorticotropic hormone deficiency isolated congenital hypogonadotropic hypogonadism UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008721 MONDO:0017714 False medium chain acyl-CoA dehydrogenase deficiency acyl-CoA dehydrogenase deficiency UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008722 MONDO:0017714 False short chain acyl-CoA dehydrogenase deficiency acyl-CoA dehydrogenase deficiency UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008723 MONDO:0017713 False very long chain acyl-CoA dehydrogenase deficiency disorder of fatty acid oxidation and ketogenesis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008723 MONDO:0024573 False very long chain acyl-CoA dehydrogenase deficiency familial hypertrophic cardiomyopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS -MONDO:0008724 MONDO:0015168 False adducted thumbs-arthrogryposis syndrome, Christian type arthrogryposis multiplex congenita UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING -MONDO:0008725 MONDO:0018479 False congenital lipoid adrenal hyperplasia due to STAR deficency congenital adrenal hyperplasia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008725 MONDO:0019852 False congenital lipoid adrenal hyperplasia due to STAR deficency inherited primary ovarian failure UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING -MONDO:0008726 MONDO:0008803 False Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis Antley-Bixler syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008727 MONDO:0005039 False congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency reproductive system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008727 MONDO:0018479 False congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency congenital adrenal hyperplasia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008728 MONDO:0005039 False classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency reproductive system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008728 MONDO:0018479 False classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency congenital adrenal hyperplasia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008729 MONDO:0005039 False congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency reproductive system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008729 MONDO:0018479 False congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency congenital adrenal hyperplasia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008730 MONDO:0005039 False congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency reproductive system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008730 MONDO:0018479 False congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency congenital adrenal hyperplasia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008731 MONDO:0015129 False familial adrenal hypoplasia with absent pituitary luteinizing hormone chronic primary adrenal insufficiency UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING -MONDO:0008731 MONDO:0015770 False familial adrenal hypoplasia with absent pituitary luteinizing hormone congenital hypogonadotropic hypogonadism UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008731 MONDO:0020040 False familial adrenal hypoplasia with absent pituitary luteinizing hormone 46,XY disorder of sex development UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008732 MONDO:0010264 False adrenal hypoplasia, cytomegalic type X-linked adrenal hypoplasia congenita UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0008733 MONDO:0003847 False familial glucocorticoid deficiency hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0008733 MONDO:0015129 False familial glucocorticoid deficiency chronic primary adrenal insufficiency UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS MONDO:0008734 MONDO:0003008 False adrenocortical carcinoma, hereditary hereditary renal cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008734 MONDO:0006639 False adrenocortical carcinoma, hereditary adrenal cortex carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008735 MONDO:0008733 False adrenocortical unresponsiveness to ACTH with postreceptor defect familial glucocorticoid deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING @@ -17388,46 +22912,21 @@ MONDO:0008737 MONDO:0014452 False congenital afibrinogenemia familial dysfibrino MONDO:0008738 MONDO:0003847 False aganglionosis, total intestinal hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008739 MONDO:0003847 False agenesis of cerebral white matter hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008740 MONDO:0003847 False agnathia-otocephaly complex hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0008740 MONDO:0015159 False agnathia-otocephaly complex multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008741 MONDO:0002254 False PAGOD syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008741 MONDO:0015161 False PAGOD syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008741 MONDO:0020040 False PAGOD syndrome 46,XY disorder of sex development UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008742 MONDO:0000426 False autosomal dominant severe congenital neutropenia autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0008743 MONDO:0015159 False Stimmler syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008744 MONDO:0015161 False alar cartilages hypoplasia-coloboma-telecanthus syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008745 MONDO:0018135 False oculocutaneous albinism type 1A oculocutaneous albinism type 1 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008745 MONDO:0040653 False oculocutaneous albinism type 1A autosomal recessive ocular albinism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008748 MONDO:0016501 False Hermansky-Pudlak syndrome 1 Hermansky-Pudlak syndrome with pulmonary fibrosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008749 MONDO:0019992 False pseudohypoparathyroidism type 2 pseudohypoparathyroidism UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008750 MONDO:0015161 False microcephaly-albinism-digital anomalies syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008751 MONDO:0002525 False corticosterone methyloxidase type 1 deficiency inherited lipid metabolism disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0008751 MONDO:0018541 False corticosterone methyloxidase type 1 deficiency familial hypoaldosteronism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008751 MONDO:0045012 False corticosterone methyloxidase type 1 deficiency steroid metabolism disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008753 MONDO:0017307 False alkaptonuria disorder of tyrosine metabolism UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008754 MONDO:0019287 False alopecia - contractures - dwarfism - intellectual disability syndrome ectodermal dysplasia syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING -MONDO:0008755 MONDO:0015650 False Moynahan syndrome epilepsy syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008755 MONDO:0019289 False Moynahan syndrome hyperpigmentation of the skin UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008756 MONDO:0002254 False alopecia - intellectual disability syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0008756 MONDO:0003847 False alopecia - intellectual disability syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0008758 MONDO:0002254 False mitochondrial DNA depletion syndrome 4a syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0008758 MONDO:0015653 False mitochondrial DNA depletion syndrome 4a monogenic epilepsy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008758 MONDO:0020127 False mitochondrial DNA depletion syndrome 4a hereditary peripheral neuropathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008758 MONDO:0024237 False mitochondrial DNA depletion syndrome 4a inherited neurodegenerative disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008758 MONDO:0100033 False mitochondrial DNA depletion syndrome 4a metabolic epilepsy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008758 MONDO:0100512 False mitochondrial DNA depletion syndrome 4a mitochondrial DNA depletion syndrome, hepatocerebral form UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008759 MONDO:0004069 False oxoglutaricaciduria inborn mitochondrial metabolism disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0008759 MONDO:0015653 False oxoglutaricaciduria monogenic epilepsy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008759 MONDO:0016790 False oxoglutaricaciduria tricarboxylic acid cycle disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008759 MONDO:0020127 False oxoglutaricaciduria hereditary peripheral neuropathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008759 MONDO:0100033 False oxoglutaricaciduria metabolic epilepsy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008760 MONDO:0006025 False beta-ketothiolase deficiency autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0008760 MONDO:0019215 False beta-ketothiolase deficiency classic organic aciduria UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008760 MONDO:0019229 False beta-ketothiolase deficiency inborn disorder of ketolysis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008762 MONDO:0006025 False autosomal recessive Alport syndrome autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0008763 MONDO:0005308 False Alstrom syndrome ciliopathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0008763 MONDO:0006025 False Alstrom syndrome autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0008764 MONDO:0100453 False Leber congenital amaurosis 1 GUCY2D-related recessive retinopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008765 MONDO:0100368 False Leber congenital amaurosis 2 RPE65-related recessive retinopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008766 MONDO:0019118 False amaurosis-hypertrichosis syndrome inherited retinal dystrophy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008767 MONDO:0019262 False neuronal ceroid lipofuscinosis 3 juvenile neuronal ceroid lipofuscinosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008768 MONDO:0019260 False ceroid lipofuscinosis, neuronal, 6B (Kufs type) adult neuronal ceroid lipofuscinosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008769 MONDO:0015674 False neuronal ceroid lipofuscinosis 2 late infantile neuronal ceroid lipofuscinosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -17436,13 +22935,9 @@ MONDO:0008770 MONDO:0015047 False amelogenesis imperfecta type 1C amelogenesis i MONDO:0008771 MONDO:0021147 False amelogenesis imperfecta type 1G disorder of development or morphogenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008772 MONDO:0015048 False amelogenesis imperfecta type 2A1 amelogenesis imperfecta type 2 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008773 MONDO:0003847 False amino aciduria with mental deficiency, dwarfism, muscular dystrophy, osteoporosis, and acidosis hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008774 MONDO:0017351 False 2-aminoadipic 2-oxoadipic aciduria inborn disorder of lysine and hydroxylysine metabolism UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008775 MONDO:0003847 False Amobarbital, deficient N-hydroxylation of hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008776 MONDO:0003847 False amyloidosis of gingiva and conjunctiva, with intellectual disability hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008777 MONDO:0000763 False gelatinous drop-like corneal dystrophy epithelial and subepithelial corneal dystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0008777 MONDO:0003847 False gelatinous drop-like corneal dystrophy hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0008777 MONDO:0004686 False gelatinous drop-like corneal dystrophy lattice corneal dystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0008777 MONDO:0020212 False gelatinous drop-like corneal dystrophy superficial corneal dystrophy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008778 MONDO:0003847 False amyloidosis, cutaneous bullous hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008779 MONDO:0003847 False arthrogryposis hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008779 MONDO:0005395 False arthrogryposis movement disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -17450,53 +22945,31 @@ MONDO:0008780 MONDO:0017593 False amyotrophic lateral sclerosis type 2, juvenile MONDO:0008780 MONDO:0100227 False amyotrophic lateral sclerosis type 2, juvenile ALS2-related motor neuron disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008781 MONDO:0017593 False juvenile amyotrophic lateral sclerosis with dementia juvenile amyotrophic lateral sclerosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008782 MONDO:0004976 False amyotrophic lateral sclerosis with polyglucosan bodies amyotrophic lateral sclerosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008783 MONDO:0001822 False Tangier disease hypolipoproteinemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0008783 MONDO:0017773 False Tangier disease hypoalphalipoproteinemia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008785 MONDO:0016828 False sideroblastic anemia 2 autosomal recessive sideroblastic anemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008786 MONDO:0015194 False pyridoxine-responsive sideroblastic anemia sideroblastic anemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0008787 MONDO:0016624 False microcytic anemia with liver iron overload inherited deficiency anemia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008787 MONDO:0017763 False microcytic anemia with liver iron overload disorder of iron metabolism and transport UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008788 MONDO:0001245 False IRIDA syndrome microcytic anemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008788 MONDO:0016624 False IRIDA syndrome inherited deficiency anemia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008789 MONDO:0000105 False anemia, nonspherocytic hemolytic, associated with abnormality of red cell membrane anemia, nonspherocytic hemolytic UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008790 MONDO:0000105 False anemia, nonspherocytic hemolytic, possibly due to defect in porphyrin metabolism anemia, nonspherocytic hemolytic UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008791 MONDO:0015159 False anencephaly 1 multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008792 MONDO:0019296 False familial angiolipomatosis subcutaneous tissue disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008793 MONDO:0003847 False angiomatosis, diffuse Corticomeningeal, of Divry and van Bogaert hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008794 MONDO:0006527 False anhidrosis, familial generalized, with abnormal or absent sweat glands anhidrosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008794 MONDO:0100118 False anhidrosis, familial generalized, with abnormal or absent sweat glands hereditary skin disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008795 MONDO:0002254 False aniridia-cerebellar ataxia-intellectual disability syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0008795 MONDO:0011119 False aniridia-cerebellar ataxia-intellectual disability syndrome iridogoniodysgenesis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0008796 MONDO:0002254 False aniridia-renal agenesis-psychomotor retardation syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008796 MONDO:0003847 False aniridia-renal agenesis-psychomotor retardation syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008796 MONDO:0015159 False aniridia-renal agenesis-psychomotor retardation syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008796 MONDO:0024458 False aniridia-renal agenesis-psychomotor retardation syndrome disorder of visual system UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008797 MONDO:0003847 False anodontia hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0008797 MONDO:0006999 False anodontia tooth disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0008798 MONDO:0019211 False nonsyndromic congenital nail disorder 4 isolated congenital anonychia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008799 MONDO:0015160 False anophthalmia/microphthalmia-esophageal atresia syndrome multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008800 MONDO:0006025 False microphthalmia with limb anomalies autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0008800 MONDO:0015160 False microphthalmia with limb anomalies multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008801 MONDO:0003847 False anosmia for isobutyric acid hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008802 MONDO:0003847 False antithrombin, familial hemorrhagic diathesis due to hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008803 MONDO:0011679 False Antley-Bixler syndrome craniosynostosis syndrome, autosomal recessive UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008803 MONDO:0015160 False Antley-Bixler syndrome multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008803 MONDO:0015338 False Antley-Bixler syndrome syndromic craniosynostosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008806 MONDO:0003847 False Aphalangy-hemivertebrae-urogenital-intestinal dysgenesis syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008806 MONDO:0018234 False Aphalangy-hemivertebrae-urogenital-intestinal dysgenesis syndrome dysostosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008806 MONDO:0019054 False Aphalangy-hemivertebrae-urogenital-intestinal dysgenesis syndrome congenital limb malformation UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008808 MONDO:0002254 False aplasia cutis congenita-intestinal lymphangiectasia syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008808 MONDO:0005020 False aplasia cutis congenita-intestinal lymphangiectasia syndrome intestinal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008808 MONDO:0019175 False aplasia cutis congenita-intestinal lymphangiectasia syndrome primary lymphedema UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008808 MONDO:0019294 False aplasia cutis congenita-intestinal lymphangiectasia syndrome mixed dermis disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008809 MONDO:0015358 False polyneuropathy-hand defect syndrome hereditary motor and sensory neuropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008809 MONDO:0015364 False polyneuropathy-hand defect syndrome hereditary sensory and autonomic neuropathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING -MONDO:0008810 MONDO:0001336 False familial apolipoprotein C-II deficiency familial hyperlipidemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0008810 MONDO:0015905 False familial apolipoprotein C-II deficiency syndromic dyslipidemia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008810 MONDO:0018637 False familial apolipoprotein C-II deficiency familial chylomicronemia syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0008811 MONDO:0005560 False XK aprosencephaly brain disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008812 MONDO:0019287 False AREDYLD syndrome ectodermal dysplasia syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING -MONDO:0008813 MONDO:0020022 False arachnoid cyst central nervous system malformation UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008814 MONDO:0800153 False hyperargininemia urea cycle disorder or inherited hyperammonemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008815 MONDO:0037871 False argininosuccinic aciduria amino acid metabolism disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008815 MONDO:0800153 False argininosuccinic aciduria urea cycle disorder or inherited hyperammonemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -17507,199 +22980,114 @@ MONDO:0008818 MONDO:0023603 False arterial tortuosity syndrome hereditary disord MONDO:0008818 MONDO:0100237 False arterial tortuosity syndrome inherited cutis laxa UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0008819 MONDO:0003847 False arteriosclerosis, severe juvenile hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008821 MONDO:0003847 False arthrogryposis, distal, with intellectual disability and characteristic facies hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008824 MONDO:0002254 False fetal akinesia deformation sequence syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0008824 MONDO:0015161 False fetal akinesia deformation sequence multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008824 MONDO:0015168 False fetal akinesia deformation sequence arthrogryposis multiplex congenita UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS MONDO:0008824 MONDO:0015929 False fetal akinesia deformation sequence thoracic malformation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008825 MONDO:0015168 False arthrogryposis multiplex congenita-whistling face syndrome arthrogryposis multiplex congenita UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING -MONDO:0008826 MONDO:0015168 False arthrogryposis-hyperkeratosis syndrome, lethal form arthrogryposis multiplex congenita UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0008827 MONDO:0016761 False progressive pseudorheumatoid arthropathy of childhood spondyloepiphyseal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0008828 MONDO:0005554 False camptodactyly-arthropathy-coxa vara-pericarditis syndrome rheumatic disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0008828 MONDO:0006025 False camptodactyly-arthropathy-coxa vara-pericarditis syndrome autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0008828 MONDO:0023603 False camptodactyly-arthropathy-coxa vara-pericarditis syndrome hereditary disorder of connective tissue UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008829 MONDO:0019175 False chylous ascites primary lymphedema UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008830 MONDO:0019251 False aspartylglucosaminuria oligosaccharidosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008830 MONDO:0800088 False aspartylglucosaminuria lysosomal storage disease with skeletal involvement UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008832 MONDO:0018677 False right atrial isomerism visceral heterotaxy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS MONDO:0008834 MONDO:0003847 False asthma, nasal polyps, and aspirin intolerance hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0008835 MONDO:0003847 False asthma, short stature, and elevated IgA hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008836 MONDO:0003847 False ataxia with myoclonic epilepsy and presenile dementia hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008837 MONDO:0003847 False ataxia, deafness, and cardiomyopathy hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008838 MONDO:0016612 False ataxia - deafness - intellectual disability syndrome X-linked cerebellar ataxia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008839 MONDO:0003847 False ataxia-microcephaly-cataract syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008840 MONDO:0005071 False ataxia telangiectasia nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0008840 MONDO:0019852 False ataxia telangiectasia inherited primary ovarian failure UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0008840 MONDO:0015131 False ataxia telangiectasia combined immunodeficiency UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0008841 MONDO:0008840 False ataxia-telangiectasia with generalized skin pigmentation and early death ataxia telangiectasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0008842 MONDO:0011457 False ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia ataxia-telangiectasia-like disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0008842 MONDO:0021190 False ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia DNA repair disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008843 MONDO:0003847 False atherosclerosis-deafness-diabetes-epilepsy-nephropathy syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008844 MONDO:0003847 False Athrombia, essential hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008845 MONDO:0003847 False atonic-astatic syndrome of Foerster hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008846 MONDO:0004689 False atransferrinemia inborn metal metabolism disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0008846 MONDO:0016624 False atransferrinemia inherited deficiency anemia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008846 MONDO:0017763 False atransferrinemia disorder of iron metabolism and transport UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008847 MONDO:0003847 False atrichia with papular lesions hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0008847 MONDO:0004907 False atrichia with papular lesions alopecia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0008848 MONDO:0003847 False atrioventricular dissociation hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008849 MONDO:0018855 False atrophoderma vermiculata keratosis pilaris atrophicans UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS MONDO:0008850 MONDO:0015161 False Cooper-Jabs syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008853 MONDO:0001334 False Barber-Say syndrome hypertrichosis of eyelid UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0008853 MONDO:0015161 False Barber-Say syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008853 MONDO:0019287 False Barber-Say syndrome ectodermal dysplasia syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS MONDO:0008853 MONDO:0020159 False Barber-Say syndrome congenital entropion UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008855 MONDO:0031520 False MHC class II deficiency familial severe combined immunodeficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0008856 MONDO:0019146 False immunodeficiency 27A inherited susceptibility to mycobacterial diseases UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008857 MONDO:0015161 False Beemer-Ertbruggen syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008858 MONDO:0005071 False Behr syndrome nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0008858 MONDO:0006025 False Behr syndrome autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0008858 MONDO:0800181 False Behr syndrome OPA1-related optic atrophy with or without extraocular features UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008859 MONDO:0003847 False berry aneurysm, cirrhosis, pulmonary emphysema, and cerebral calcification hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008860 MONDO:0003847 False beta-aminoisobutyric acid, urinary excretion of hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008861 MONDO:0004739 False 3-methylcrotonyl-CoA carboxylase 1 deficiency urea cycle disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0008863 MONDO:0015905 False sitosterolemia syndromic dyslipidemia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008864 MONDO:0015159 False Biemond syndrome type 2 multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008865 MONDO:0016420 False Bietti crystalline corneoretinal dystrophy familial flecked retinopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008866 MONDO:0000110 False bifid nose, autosomal recessive bifid nose UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008866 MONDO:0006025 False bifid nose, autosomal recessive autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008866 MONDO:0018751 False bifid nose, autosomal recessive hereditary otorhinolaryngologic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008867 MONDO:0001751 False biliary atresia cholestasis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0008867 MONDO:0006322 False biliary atresia non-neoplastic bile duct disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008868 MONDO:0003847 False biliary malformation with renal tubular insufficiency hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008870 MONDO:0015159 False bird headed-dwarfism, Montreal type multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008870 MONDO:0018230 False bird headed-dwarfism, Montreal type skeletal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008871 MONDO:0000060 False microcephalic osteodysplastic primordial dwarfism type I microcephalic osteodysplastic primordial dwarfism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008871 MONDO:0005516 False microcephalic osteodysplastic primordial dwarfism type I osteochondrodysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0008871 MONDO:0016994 False microcephalic osteodysplastic primordial dwarfism type I microcephalic osteodysplastic primordial dwarfism types I and III UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008871 MONDO:0100500 False microcephalic osteodysplastic primordial dwarfism type I Mendelian neurodevelopmental disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008872 MONDO:0000060 False microcephalic osteodysplastic primordial dwarfism type II microcephalic osteodysplastic primordial dwarfism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008872 MONDO:0005516 False microcephalic osteodysplastic primordial dwarfism type II osteochondrodysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0008872 MONDO:0100500 False microcephalic osteodysplastic primordial dwarfism type II Mendelian neurodevelopmental disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008872 MONDO:0800063 False microcephalic osteodysplastic primordial dwarfism type II primordial dwarfism and slender bone disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008873 MONDO:0000060 False microcephalic osteodysplastic primordial dwarfism, type 3 microcephalic osteodysplastic primordial dwarfism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008873 MONDO:0016994 False microcephalic osteodysplastic primordial dwarfism, type 3 microcephalic osteodysplastic primordial dwarfism types I and III UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008873 MONDO:0100500 False microcephalic osteodysplastic primordial dwarfism, type 3 Mendelian neurodevelopmental disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008874 MONDO:0015126 False Bangstad syndrome polyendocrinopathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008875 MONDO:0002254 False blepharophimosis-ptosis-esotropia-syndactyly-short stature syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008875 MONDO:0015161 False blepharophimosis-ptosis-esotropia-syndactyly-short stature syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008876 MONDO:0005570 False Bloom syndrome hematologic disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0008876 MONDO:0006025 False Bloom syndrome autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0008876 MONDO:0015951 False Bloom syndrome hereditary photodermatosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008876 MONDO:0019040 False Bloom syndrome chromosomal disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0008876 MONDO:0021147 False Bloom syndrome disorder of development or morphogenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008877 MONDO:0019216 False blue diaper syndrome inborn disorder of amino acid transport UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008878 MONDO:0005516 False bone dysplasia, lethal Holmgren type osteochondrodysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008878 MONDO:0018230 False bone dysplasia, lethal Holmgren type skeletal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008879 MONDO:0006025 False Bowen-Conradi syndrome autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0008879 MONDO:0015159 False Bowen-Conradi syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008880 MONDO:0003847 False Bowen syndrome of multiple malformations hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008881 MONDO:0019698 False kyphomelic dysplasia bent bone dysplasia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008882 MONDO:0017427 False congenital bowing of long bones congenital deformities of limbs UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008882 MONDO:0019698 False congenital bowing of long bones bent bone dysplasia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008883 MONDO:0003847 False brachydactyly, type A2, with microcephaly hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008884 MONDO:0019287 False oculoosteocutaneous syndrome ectodermal dysplasia syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING -MONDO:0008885 MONDO:0002254 False Elsahy-Waters syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0008885 MONDO:0003847 False Elsahy-Waters syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0008885 MONDO:0015159 False Elsahy-Waters syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008886 MONDO:0003847 False Sabinas brittle hair syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0008887 MONDO:0018956 False bronchiectasis with or without elevated sweat chloride 1 idiopathic bronchiectasis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008888 MONDO:0005087 False Williams-Campbell syndrome respiratory system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008889 MONDO:0021166 False thromboangiitis obliterans inflammatory disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008890 MONDO:0002782 False progressive bulbar palsy cranial nerve palsy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0008890 MONDO:0005560 False progressive bulbar palsy brain disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0008890 MONDO:0006496 False progressive bulbar palsy palsy UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008890 MONDO:0008891 False progressive bulbar palsy riboflavin transporter deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0008891 MONDO:0024257 False riboflavin transporter deficiency hereditary motor neuron disease UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008893 MONDO:0015159 False C syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008893 MONDO:0015338 False C syndrome syndromic craniosynostosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008894 MONDO:0019280 False cataract-hypertrichosis-intellectual disability syndrome hypertrichosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008894 MONDO:0019287 False cataract-hypertrichosis-intellectual disability syndrome ectodermal dysplasia syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING -MONDO:0008895 MONDO:0003847 False hereditary arterial and articular multiple calcification syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0008895 MONDO:0005385 False hereditary arterial and articular multiple calcification syndrome vascular disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0008896 MONDO:0002254 False campomelia, Cumming type syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008896 MONDO:0015160 False campomelia, Cumming type multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008896 MONDO:0019313 False campomelia, Cumming type lymphatic malformation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING -MONDO:0008896 MONDO:0019698 False campomelia, Cumming type bent bone dysplasia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008898 MONDO:0000111 False camptodactyly syndrome, Guadalajara type 1 camptodactyly syndrome, Guadalajara UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008898 MONDO:0015161 False camptodactyly syndrome, Guadalajara type 1 multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008899 MONDO:0000111 False camptodactyly syndrome, Guadalajara type 2 camptodactyly syndrome, Guadalajara UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008899 MONDO:0015161 False camptodactyly syndrome, Guadalajara type 2 multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008899 MONDO:0018234 False camptodactyly syndrome, Guadalajara type 2 dysostosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008899 MONDO:0019054 False camptodactyly syndrome, Guadalajara type 2 congenital limb malformation UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008900 MONDO:0006025 False camptodactyly with fibrous tissue hyperplasia and skeletal dysplasia autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008900 MONDO:0015159 False camptodactyly with fibrous tissue hyperplasia and skeletal dysplasia multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008900 MONDO:0018234 False camptodactyly with fibrous tissue hyperplasia and skeletal dysplasia dysostosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008901 MONDO:0020120 False Tel Hashomer camptodactyly syndrome skeletal muscle disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008902 MONDO:0003847 False camptodactyly-ichthyosis syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008903 MONDO:0000376 False lung cancer respiratory system cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0008904 MONDO:0002254 False camptomelic syndrome, long-limb type syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008905 MONDO:0015979 False predisposition to invasive fungal disease due to CARD9 deficiency hereditary predisposition to infections UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008907 MONDO:0017740 False PMM2-congenital disorder of glycosylation disorder of protein N-glycosylation UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008908 MONDO:0005267 False MGAT2-congenital disorder of glycosylation heart disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0008908 MONDO:0015327 False MGAT2-congenital disorder of glycosylation developmental anomaly of metabolic origin UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008908 MONDO:0017740 False MGAT2-congenital disorder of glycosylation disorder of protein N-glycosylation UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008909 MONDO:0003847 False congenital disorder of glycosylation, type i/IIx hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008910 MONDO:0003847 False carboxypeptidase N deficiency hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0008911 MONDO:0010771 False cardiac lipidosis, familial histiocytoid cardiomyopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0008912 MONDO:0003847 False cardiac septal defects with coarctation of the aorta hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008913 MONDO:0021147 False cardiac valvular defect, developmental disorder of development or morphogenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008913 MONDO:0031323 False cardiac valvular defect, developmental cardiac valvular defect UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0008914 MONDO:0003847 False cardioauditory syndrome of Sanchez Cascos hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008915 MONDO:0003150 False dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome male reproductive system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0008915 MONDO:0003847 False dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0008915 MONDO:0005151 False dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome endocrine system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0008915 MONDO:0005267 False dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome heart disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0008916 MONDO:0003847 False cardiomyopathy associated with myopathy and sudden death hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008917 MONDO:0005453 False heart defects-limb shortening syndrome congenital heart disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008917 MONDO:0006025 False heart defects-limb shortening syndrome autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008917 MONDO:0015161 False heart defects-limb shortening syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008918 MONDO:0017713 False carnitine-acylcarnitine translocase deficiency disorder of fatty acid oxidation and ketogenesis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008918 MONDO:0017716 False carnitine-acylcarnitine translocase deficiency disorder of carnitine cycle and carnitine transport UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008919 MONDO:0017713 False systemic primary carnitine deficiency disease disorder of fatty acid oxidation and ketogenesis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008919 MONDO:0017716 False systemic primary carnitine deficiency disease disorder of carnitine cycle and carnitine transport UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008920 MONDO:0003847 False carnitine deficiency, myopathic hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008921 MONDO:0009351 False carnosinemia homocarnosinosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0008922 MONDO:0005267 False Sengers syndrome heart disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0008922 MONDO:0016801 False Sengers syndrome mitochondrial substrate carrier disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008922 MONDO:0018117 False Sengers syndrome disorder of phospholipids, sphingolipids and fatty acids biosynthesis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008923 MONDO:0006025 False autosomal recessive palmoplantar keratoderma and congenital alopecia autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0008923 MONDO:0017666 False autosomal recessive palmoplantar keratoderma and congenital alopecia diffuse palmoplantar keratoderma UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008923 MONDO:0019287 False autosomal recessive palmoplantar keratoderma and congenital alopecia ectodermal dysplasia syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS MONDO:0008924 MONDO:0002254 False congenital cataract-ichthyosis syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008924 MONDO:0015947 False congenital cataract-ichthyosis syndrome inherited ichthyosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008925 MONDO:0011060 False cataract 46 juvenile-onset early-onset non-syndromic cataract UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING -MONDO:0008926 MONDO:0006025 False COFS syndrome autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0008926 MONDO:0016073 False COFS syndrome syndromic microphthalmia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS MONDO:0008926 MONDO:0021190 False COFS syndrome DNA repair disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008927 MONDO:0002254 False colobomatous optic disc-macular atrophy-chorioretinopathy syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0008927 MONDO:0003847 False colobomatous optic disc-macular atrophy-chorioretinopathy syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0008927 MONDO:0024458 False colobomatous optic disc-macular atrophy-chorioretinopathy syndrome disorder of visual system UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008928 MONDO:0100309 False cataract-ataxia-deafness syndrome hereditary ataxia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008930 MONDO:0020573 False celiac disease, susceptibility to, 1 inherited disease susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008931 MONDO:0019054 False Cenani-Lenz syndactyly syndrome congenital limb malformation UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008931 MONDO:0800066 False Cenani-Lenz syndactyly syndrome polydactyly-syndactyly-triphalangism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008932 MONDO:0003847 False premature centromere division hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008933 MONDO:0003847 False cephalin lipidosis hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008934 MONDO:0019287 False cerebellar ataxia-ectodermal dysplasia syndrome ectodermal dysplasia syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING -MONDO:0008935 MONDO:0015770 False cerebellar ataxia-hypogonadism syndrome congenital hypogonadotropic hypogonadism UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008935 MONDO:0024237 False cerebellar ataxia-hypogonadism syndrome inherited neurodegenerative disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008936 MONDO:0003847 False cerebellar ataxia and neurosensory deafness hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008937 MONDO:0003847 False cerebellar ataxia, benign, with thermoanalgesia hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008938 MONDO:0020046 False early-onset cerebellar ataxia with retained tendon reflexes autosomal recessive degenerative and progressive cerebellar ataxia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008939 MONDO:0002320 False isolated cerebellar hypoplasia/agenesis congenital nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0008939 MONDO:0021147 False isolated cerebellar hypoplasia/agenesis disorder of development or morphogenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008941 MONDO:0002254 False hepatic fibrosis-renal cysts-intellectual disability syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008943 MONDO:0020043 False autosomal recessive spinocerebellar ataxia 2 autosomal recessive congenital cerebellar ataxia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008945 MONDO:0000114 False myoclonic cerebellar dyssynergia cerebelloparenchymal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008945 MONDO:0024237 False myoclonic cerebellar dyssynergia inherited neurodegenerative disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008946 MONDO:0003847 False cerebral angiopathy, dysphoric hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008947 MONDO:0003996 False bilateral striopallidodentate calcinosis basal ganglia disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0008947 MONDO:0015547 False bilateral striopallidodentate calcinosis hereditary dementia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008948 MONDO:0002615 False cerebrotendinous xanthomatosis xanthomatosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0008948 MONDO:0004884 False cerebrotendinous xanthomatosis eye degenerative disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0008948 MONDO:0015905 False cerebrotendinous xanthomatosis syndromic dyslipidemia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008948 MONDO:0019046 False cerebrotendinous xanthomatosis leukodystrophy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS -MONDO:0008948 MONDO:0019218 False cerebrotendinous xanthomatosis inborn disorder of bile acid synthesis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008948 MONDO:0019296 False cerebrotendinous xanthomatosis subcutaneous tissue disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008948 MONDO:0020044 False cerebrotendinous xanthomatosis autosomal recessive metabolic cerebellar ataxia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008948 MONDO:0020127 False cerebrotendinous xanthomatosis hereditary peripheral neuropathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008948 MONDO:0020143 False cerebrotendinous xanthomatosis cerebral lipidosis with dementia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0008948 MONDO:0022687 False cerebrotendinous xanthomatosis cerebellar degeneration UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0008948 MONDO:0045016 False cerebrotendinous xanthomatosis cholesterol catabolic process disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008949 MONDO:0003847 False cerebral malformation, seizures, hypertrichosis, and overlapping fingers hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -17712,42 +23100,28 @@ MONDO:0008959 MONDO:0003847 False CHAND syndrome hereditary disease UNSUPPORTED- MONDO:0008960 MONDO:0002254 False Charcot-Marie-Tooth disease-hearing loss-intellectual disability syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008960 MONDO:0003847 False Charcot-Marie-Tooth disease-hearing loss-intellectual disability syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008961 MONDO:0012014 False Charcot-Marie-Tooth disease type 4A Charcot-Marie-Tooth disease recessive intermediate A UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS -MONDO:0008961 MONDO:0018995 False Charcot-Marie-Tooth disease type 4A Charcot-Marie-Tooth disease type 4 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0008962 MONDO:0005071 False Griscelli syndrome type 1 nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0008963 MONDO:0002320 False Chediak-Higashi syndrome congenital nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0008963 MONDO:0015134 False Chediak-Higashi syndrome constitutional neutropenia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008963 MONDO:0015541 False Chediak-Higashi syndrome hereditary hemophagocytic lymphohistiocytosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING -MONDO:0008963 MONDO:0017305 False Chediak-Higashi syndrome syndromic oculocutaneous albinism UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008963 MONDO:0017739 False Chediak-Higashi syndrome disorder of lysosomal-related organelles UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008963 MONDO:0020127 False Chediak-Higashi syndrome hereditary peripheral neuropathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008963 MONDO:0024237 False Chediak-Higashi syndrome inherited neurodegenerative disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008964 MONDO:0045032 False congenital secretory chloride diarrhea 1 congenital secretory diarrhea UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008965 MONDO:0005267 False CHARGE syndrome heart disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0008965 MONDO:0015160 False CHARGE syndrome multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008965 MONDO:0015770 False CHARGE syndrome congenital hypogonadotropic hypogonadism UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008965 MONDO:0021635 False CHARGE syndrome neurocristopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008966 MONDO:0005154 False Aagenaes syndrome liver disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0008966 MONDO:0019175 False Aagenaes syndrome primary lymphedema UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008967 MONDO:0002320 False congenital bile acid synthesis defect 4 congenital nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0008967 MONDO:0013681 False congenital bile acid synthesis defect 4 alpha-methylacyl-CoA racemase deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS MONDO:0008968 MONDO:0003847 False cholestasis with gallstone, ataxia, and visual disturbance hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008969 MONDO:0003847 False cholesterol pneumonia hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008970 MONDO:0019702 False chondrodysplasia Blomstrand type neonatal osteosclerotic dysplasia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008971 MONDO:0009943 False chondrodysplasia calcificans Metaphysealis Pyle disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0008972 MONDO:0004884 False rhizomelic chondrodysplasia punctata type 1 eye degenerative disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0008972 MONDO:0015905 False rhizomelic chondrodysplasia punctata type 1 syndromic dyslipidemia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008972 MONDO:0100272 False rhizomelic chondrodysplasia punctata type 1 peroxisome biogenesis disorder due to PEX7 defect UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008973 MONDO:0015775 False chondrodysplasia punctata, Toriello type non-rhizomelic chondrodysplasia punctata UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008974 MONDO:0019240 False Greenberg dysplasia sterol biosynthesis disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008974 MONDO:0019701 False Greenberg dysplasia chondrodysplasia punctata UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0008974 MONDO:0021106 False Greenberg dysplasia laminopathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008975 MONDO:0016761 False otospondylomegaepiphyseal dysplasia spondyloepiphyseal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0008976 MONDO:0003847 False chondroitin-6-sulfaturia, defective cellular immunity, nephrotic syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008977 MONDO:0021581 False chondrosarcoma connective tissue neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008977 MONDO:0023603 False chondrosarcoma hereditary disorder of connective tissue UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008979 MONDO:0001595 False chorea, benign familial choreatic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008980 MONDO:0015770 False ataxia-hypogonadism-choroidal dystrophy syndrome congenital hypogonadotropic hypogonadism UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008980 MONDO:0100309 False ataxia-hypogonadism-choroidal dystrophy syndrome hereditary ataxia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0008981 MONDO:0002254 False infantile choroidocerebral calcification syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008982 MONDO:0001898 False central areolar choroidal dystrophy optic choroid disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008982 MONDO:0003847 False central areolar choroidal dystrophy hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -17758,18 +23132,10 @@ MONDO:0008986 MONDO:0003847 False circumvallate placenta syndrome hereditary dis MONDO:0008988 MONDO:0800153 False citrullinemia type I urea cycle disorder or inherited hyperammonemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008989 MONDO:0003847 False citrulline transport defect hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008990 MONDO:0016060 False cleft larynx, posterior laryngotracheoesophageal cleft UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008991 MONDO:0015161 False Verloove Vanhorick-Brubakk syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008992 MONDO:0015161 False Juberg-Hayward syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008993 MONDO:0021147 False cleft palate-stapes fixation-oligodontia syndrome disorder of development or morphogenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008994 MONDO:0005516 False cleidocranial dysplasia, recessive form osteochondrodysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008995 MONDO:0002254 False Yunis-Varon syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0008995 MONDO:0018230 False Yunis-Varon syndrome skeletal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008998 MONDO:0016006 False Cockayne syndrome type 3 Cockayne syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008999 MONDO:0000508 False Cohen syndrome syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0008999 MONDO:0002320 False Cohen syndrome congenital nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0008999 MONDO:0003847 False Cohen syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0008999 MONDO:0015134 False Cohen syndrome constitutional neutropenia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008999 MONDO:0015159 False Cohen syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009000 MONDO:0021154 False familial reactive perforating collagenosis dermis disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009001 MONDO:0020242 False macular coloboma-cleft palate-hallux valgus syndrome hereditary macular dystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009002 MONDO:0001476 False coloboma, ocular, autosomal recessive coloboma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -17779,505 +23145,291 @@ MONDO:0009005 MONDO:0000015 False complement component C1r/C1s deficiency classi MONDO:0009005 MONDO:0015699 False complement component C1r/C1s deficiency immunodeficiency due to a classical component pathway complement deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009006 MONDO:0000015 False complement component 2 deficiency classic complement early component deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009006 MONDO:0015699 False complement component 2 deficiency immunodeficiency due to a classical component pathway complement deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009007 MONDO:0003847 False Jalili syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0009007 MONDO:0021147 False Jalili syndrome disorder of development or morphogenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009008 MONDO:0003847 False heart defect - tongue hamartoma - polysyndactyly syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0009008 MONDO:0015161 False heart defect - tongue hamartoma - polysyndactyly syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009009 MONDO:0002242 False hypoplasminogenemia coagulation protein disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009009 MONDO:0021181 False hypoplasminogenemia inherited blood coagulation disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009010 MONDO:0020292 False aortic arch interruption congenital anomaly of the great arteries UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009012 MONDO:0002320 False multiple pterygium-malignant hyperthermia syndrome congenital nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009012 MONDO:0015168 False multiple pterygium-malignant hyperthermia syndrome arthrogryposis multiplex congenita UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0009013 MONDO:0003847 False convulsive disorder, familial, with prenatal or early onset hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009015 MONDO:0002254 False corneal dystrophy-perceptive deafness syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0009015 MONDO:0003847 False corneal dystrophy-perceptive deafness syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0009016 MONDO:0001515 False band keratopathy corneal degeneration UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0009016 MONDO:0002261 False band keratopathy keratopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0009016 MONDO:0018102 False band keratopathy corneal dystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0009017 MONDO:0003847 False corneal degeneration, band-shaped spheroid hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009018 MONDO:0020213 False central cloudy dystrophy of François stromal corneal dystrophy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009018 MONDO:0020214 False central cloudy dystrophy of François posterior corneal dystrophy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009019 MONDO:0000766 False congenital hereditary endothelial dystrophy of cornea corneal endothelial dystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0009019 MONDO:0003847 False congenital hereditary endothelial dystrophy of cornea hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0009019 MONDO:0020214 False congenital hereditary endothelial dystrophy of cornea posterior corneal dystrophy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009020 MONDO:0020213 False macular corneal dystrophy stromal corneal dystrophy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0009020 MONDO:0020242 False macular corneal dystrophy hereditary macular dystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009021 MONDO:0015160 False Toriello-Carey syndrome multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009022 MONDO:0002320 False corpus callosum, agenesis of congenital nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009022 MONDO:0003847 False corpus callosum, agenesis of hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009024 MONDO:0002254 False cortical blindness-intellectual disability-polydactyly syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009024 MONDO:0015159 False cortical blindness-intellectual disability-polydactyly syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009024 MONDO:0024458 False cortical blindness-intellectual disability-polydactyly syndrome disorder of visual system UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009025 MONDO:0005495 False apparent mineralocorticoid excess adrenal gland disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0009025 MONDO:0005523 False apparent mineralocorticoid excess steroid inherited metabolic disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0009025 MONDO:0015905 False apparent mineralocorticoid excess syndromic dyslipidemia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009026 MONDO:0000426 False Costello syndrome autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0009026 MONDO:0015159 False Costello syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009026 MONDO:0020297 False Costello syndrome Noonan syndrome and Noonan-related syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009027 MONDO:0003847 False cramps, familial adolescent hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009028 MONDO:0003847 False Crane-Heise syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009029 MONDO:0003847 False cranial nerves, congenital paresis of hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009030 MONDO:0003847 False cranial nerves, recurrent paresis of hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009031 MONDO:0002185 False craniodiaphyseal dysplasia hyperostosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0009031 MONDO:0015465 False craniodiaphyseal dysplasia craniometaphyseal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS MONDO:0009031 MONDO:0021147 False craniodiaphyseal dysplasia disorder of development or morphogenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009032 MONDO:0011679 False cranioectodermal dysplasia craniosynostosis syndrome, autosomal recessive UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING -MONDO:0009032 MONDO:0015338 False cranioectodermal dysplasia syndromic craniosynostosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009032 MONDO:0015461 False cranioectodermal dysplasia short rib-polydactyly syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009032 MONDO:0015962 False cranioectodermal dysplasia inherited renal tubular disease UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009032 MONDO:0019287 False cranioectodermal dysplasia ectodermal dysplasia syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS -MONDO:0009033 MONDO:0003847 False temtamy syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0009033 MONDO:0015159 False temtamy syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009034 MONDO:0021147 False craniofacial dyssynostosis disorder of development or morphogenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009035 MONDO:0006025 False craniometaphyseal dysplasia, autosomal recessive autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0009036 MONDO:0015159 False cardiocranial syndrome, Pfeiffer type multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009036 MONDO:0015338 False cardiocranial syndrome, Pfeiffer type syndromic craniosynostosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009037 MONDO:0003847 False craniosynostosis with anomalies of the cranial base and digits hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009038 MONDO:0015338 False craniosynostosis-fibular aplasia syndrome syndromic craniosynostosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009039 MONDO:0015338 False Baller-Gerold syndrome syndromic craniosynostosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009040 MONDO:0003847 False craniosynostosis-intellectual disability syndrome of 51N and Gettig hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009041 MONDO:0003847 False craniosynostosis-intellectual disability-clefting syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009042 MONDO:0015338 False craniotelencephalic dysplasia syndromic craniosynostosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009042 MONDO:0018838 False craniotelencephalic dysplasia lissencephaly spectrum disorders UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0009044 MONDO:0002254 False Crigler-Najjar syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0009045 MONDO:0002254 False cataract-nephropathy-encephalopathy syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009046 MONDO:0006025 False Fraser syndrome autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0009046 MONDO:0015161 False Fraser syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009046 MONDO:0020153 False Fraser syndrome cryptophthalmia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0009047 MONDO:0003150 False cryptorchidism male reproductive system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0009047 MONDO:0003847 False cryptorchidism hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0009048 MONDO:0003847 False curved nail of fourth toe hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009049 MONDO:0020529 False Cushing syndrome due to macronodular adrenal hyperplasia ACTH-independent Cushing syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009050 MONDO:0003429 False Cushing disease due to pituitary adenoma functioning pituitary gland adenoma UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0009050 MONDO:0020528 False Cushing disease due to pituitary adenoma ACTH-dependent Cushing syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0009050 MONDO:0021227 False Cushing disease due to pituitary adenoma adrenal gland neoplasm UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009050 MONDO:0700245 False Cushing disease due to pituitary adenoma syndromic disorder of cell proliferation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009051 MONDO:0005265 False cutaneous photosensitivity-lethal colitis syndrome inflammatory bowel disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING -MONDO:0009052 MONDO:0019572 False cutis laxa, autosomal recessive, type 1A autosomal recessive cutis laxa type 1 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0009053 MONDO:0015327 False ALDH18A1-related de Barsy syndrome developmental anomaly of metabolic origin UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009053 MONDO:0017569 False ALDH18A1-related de Barsy syndrome de Barsy syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0009053 MONDO:0100126 False ALDH18A1-related de Barsy syndrome P5CS deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009054 MONDO:0100237 False autosomal recessive cutis laxa type 2, classic type inherited cutis laxa UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009055 MONDO:0016231 False cutis marmorata telangiectatica congenita capillary malformation UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009055 MONDO:0019293 False cutis marmorata telangiectatica congenita skin vascular disease UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009056 MONDO:0003847 False cutis verticis gyrata and intellectual disability hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009057 MONDO:0003847 False cyanosis and hepatic disease hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009058 MONDO:0004736 False cystathioninuria inborn disorder of amino acid metabolism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0009058 MONDO:0019222 False cystathioninuria inborn disorder of methionine cycle and sulfur amino acid metabolism UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009059 MONDO:0003847 False cysteine Peptiduria hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009060 MONDO:0003847 False cystic disease of lung hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009061 MONDO:0005087 False cystic fibrosis respiratory system disorder UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0009061 MONDO:0006025 False cystic fibrosis autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0009062 MONDO:0002254 False cystic fibrosis-gastritis-megaloblastic anemia syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009062 MONDO:0003847 False cystic fibrosis-gastritis-megaloblastic anemia syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009063 MONDO:0003847 False ventriculomegaly-cystic kidney disease hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0009064 MONDO:0005328 False ocular cystinosis eye disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009064 MONDO:0016239 False ocular cystinosis cystinosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009064 MONDO:0019216 False ocular cystinosis inborn disorder of amino acid transport UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009066 MONDO:0019216 False juvenile nephropathic cystinosis inborn disorder of amino acid transport UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009066 MONDO:0100151 False juvenile nephropathic cystinosis nephropathic cystinosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0009067 MONDO:0002254 False cystinuria syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0009067 MONDO:0015962 False cystinuria inherited renal tubular disease UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009067 MONDO:0019216 False cystinuria inborn disorder of amino acid transport UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009068 MONDO:0000066 False cytochrome-c oxidase deficiency disease mitochondrial complex deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009069 MONDO:0002320 False congenital lactic acidosis, Saguenay-Lac-Saint-Jean type congenital nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0009069 MONDO:0009723 False congenital lactic acidosis, Saguenay-Lac-Saint-Jean type Leigh syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS MONDO:0009070 MONDO:0800152 False D-glyceric aciduria disorder of galactose and fructose metabolism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009071 MONDO:0015962 False hereditary renal hypouricemia inherited renal tubular disease UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009072 MONDO:0002427 False Dandy-Walker syndrome cerebellar disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0009072 MONDO:0020134 False Dandy-Walker syndrome cystic malformation of the posterior fossa UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009074 MONDO:0002320 False facial dysmorphism-macrocephaly-myopia-Dandy-Walker malformation syndrome congenital nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009074 MONDO:0015159 False facial dysmorphism-macrocephaly-myopia-Dandy-Walker malformation syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009074 MONDO:0020022 False facial dysmorphism-macrocephaly-myopia-Dandy-Walker malformation syndrome central nervous system malformation UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009075 MONDO:0020022 False Dandy-Walker malformation-postaxial polydactyly syndrome central nervous system malformation UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009077 MONDO:0003847 False deafness, congenital, and familial myoclonic epilepsy hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009079 MONDO:0002254 False DOORS syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0009079 MONDO:0003847 False DOORS syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0009080 MONDO:0015161 False split hand-foot malformation 1 with sensorineural hearing loss multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009080 MONDO:0018230 False split hand-foot malformation 1 with sensorineural hearing loss skeletal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009080 MONDO:0018234 False split hand-foot malformation 1 with sensorineural hearing loss dysostosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0009080 MONDO:0019054 False split hand-foot malformation 1 with sensorineural hearing loss congenital limb malformation UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009081 MONDO:0019290 False deafness, congenital, with total albinism hypopigmentation of the skin UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009081 MONDO:0100118 False deafness, congenital, with total albinism hereditary skin disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009082 MONDO:0002254 False high myopia-sensorineural deafness syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0009082 MONDO:0003847 False high myopia-sensorineural deafness syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0009083 MONDO:0003847 False conductive deafness-malformed external ear syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009084 MONDO:0019287 False conductive deafness-ptosis-skeletal anomalies syndrome ectodermal dysplasia syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0009085 MONDO:0003847 False deafness-vitiligo-achalasia syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009086 MONDO:0003847 False deafness-small bowel diverticulosis-neuropathy syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009087 MONDO:0003847 False deafness, neural, congenital moderate hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009088 MONDO:0003847 False deafness, neural, with atypical atopic dermatitis hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009089 MONDO:0021147 False deafness-oligodontia syndrome disorder of development or morphogenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009090 MONDO:0010779 False hearing loss, sensorineural, autosomal-mitochondrial type mitochondrial non-syndromic sensorineural hearing loss UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS -MONDO:0009091 MONDO:0018762 False non-acquired combined pituitary hormone deficiency with spine abnormalities non-acquired combined pituitary hormone deficiency UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009092 MONDO:0006025 False polycystic lipomembranous osteodysplasia with sclerosing leukoencephaly autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0009092 MONDO:0019046 False polycystic lipomembranous osteodysplasia with sclerosing leukoencephaly leukodystrophy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS MONDO:0009092 MONDO:0019707 False polycystic lipomembranous osteodysplasia with sclerosing leukoencephaly primary osteolysis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009093 MONDO:0019046 False dermatoleukodystrophy leukodystrophy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0009094 MONDO:0002254 False dermochondrocorneal dystrophy syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009094 MONDO:0021154 False dermochondrocorneal dystrophy dermis disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009095 MONDO:0019287 False dermatoosteolysis, Kirghizian type ectodermal dysplasia syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0009097 MONDO:0006025 False persistent hyperplastic primary vitreous, autosomal recessive autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009098 MONDO:0003847 False dextrocardia with unusual facies and microphthalmia hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009099 MONDO:0002254 False nephrogenic diabetes insipidus-intracranial calcification syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009099 MONDO:0015962 False nephrogenic diabetes insipidus-intracranial calcification syndrome inherited renal tubular disease UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009101 MONDO:0003847 False Wolfram syndrome 1 hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0009101 MONDO:0018105 False Wolfram syndrome 1 Wolfram syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0009102 MONDO:0003847 False diaminopentanuria hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009103 MONDO:0005711 False diaphragmatic hernia 2 congenital diaphragmatic hernia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING -MONDO:0009104 MONDO:0006025 False Donnai-Barrow syndrome autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0009104 MONDO:0015160 False Donnai-Barrow syndrome multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009105 MONDO:0002254 False trichohepatoenteric syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0009105 MONDO:0003778 False trichohepatoenteric syndrome inborn error of immunity UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0009105 MONDO:0005020 False trichohepatoenteric syndrome intestinal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0009106 MONDO:0018075 False diastematomyelia neural tube defect UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009106 MONDO:0002320 False diastematomyelia congenital nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009107 MONDO:0000226 False diastrophic dysplasia mineral metabolism disease UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009107 MONDO:0005516 False diastrophic dysplasia osteochondrodysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0009107 MONDO:0019052 False diastrophic dysplasia inborn errors of metabolism UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0009108 MONDO:0019216 False hyperdibasic aminoaciduria type 1 inborn disorder of amino acid transport UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009109 MONDO:0019216 False lysinuric protein intolerance inborn disorder of amino acid transport UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009110 MONDO:0019216 False dicarboxylic aminoaciduria inborn disorder of amino acid transport UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009111 MONDO:0019238 False dihydropyrimidinuria inborn disorder of pyrimidine metabolism UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0009112 MONDO:0100273 False rhizomelic chondrodysplasia punctata type 2 glyceronephosphate O-acyltransferase deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009113 MONDO:0003689 False hemolytic anemia due to diphosphoglycerate mutase deficiency familial hemolytic anemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0009113 MONDO:0020585 False hemolytic anemia due to diphosphoglycerate mutase deficiency anemia due to erythrocyte enzyme disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009114 MONDO:0004905 False congenital sucrase-isomaltase deficiency intestinal disaccharidase deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0009114 MONDO:0017706 False congenital sucrase-isomaltase deficiency disorder of carbohydrate transmembrane transport and absorption UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009115 MONDO:0017706 False congenital lactase deficiency disorder of carbohydrate transmembrane transport and absorption UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009118 MONDO:0003847 False disseminated sclerosis with narcolepsy hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009119 MONDO:0004335 False diverticulosis, small-intestinal digestive system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009120 MONDO:0002254 False diverticulosis of bowel, hernia, and retinal detachment syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009120 MONDO:0004335 False diverticulosis of bowel, hernia, and retinal detachment digestive system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009121 MONDO:0015161 False von Voss-Cherstvoy syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009122 MONDO:0003847 False Dohle bodies and leukemia hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009123 MONDO:0017759 False orthostatic hypotension 1 disorder of catecholamine synthesis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009124 MONDO:0015159 False Dubowitz syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009124 MONDO:0019287 False Dubowitz syndrome ectodermal dysplasia syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS MONDO:0009126 MONDO:0021147 False duodenal atresia disorder of development or morphogenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009127 MONDO:0003847 False dwarfism, low-birth-weight type, with unresponsiveness to growth hormone hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009128 MONDO:0003847 False dwarfism, intellectual disability, and eye abnormality hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009129 MONDO:0003847 False dwarfism, proportionate, with hip dislocation hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009130 MONDO:0002254 False Dyggve-Melchior-Clausen disease syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0009130 MONDO:0016761 False Dyggve-Melchior-Clausen disease spondyloepiphyseal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0009131 MONDO:0003847 False Riley-Day syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0009131 MONDO:0021635 False Riley-Day syndrome neurocristopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009132 MONDO:0003847 False dysautonomia-like disorder hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009133 MONDO:0020043 False cerebellar ataxia, intellectual disability, and dysequilibrium autosomal recessive congenital cerebellar ataxia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009134 MONDO:0000577 False congenital dyserythropoietic anemia type 2 congenital anemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009134 MONDO:0017749 False congenital dyserythropoietic anemia type 2 disorder of multiple glycosylation UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009135 MONDO:0020337 False anemia, congenital dyserythropoietic, type 1a congenital dyserythropoietic anemia type 1 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0009137 MONDO:0003847 False dysmyelination with jaundice hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009138 MONDO:0017198 False dysosteosclerosis osteopetrosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009139 MONDO:0016761 False dyssegmental dysplasia, Rolland-Desbuquois type spondyloepiphyseal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009140 MONDO:0016151 False Silverman-Handmaker type dyssegmental dysplasia qualitative or quantitative defects of perlecan UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009140 MONDO:0016761 False Silverman-Handmaker type dyssegmental dysplasia spondyloepiphyseal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0009141 MONDO:0015990 False torsion dystonia 2 focal, segmental or multifocal dystonia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009142 MONDO:0003847 False dystonia with Ringbinden hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009144 MONDO:0020289 False Ebstein anomaly congenital tricuspid malformation UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009145 MONDO:0006025 False SchC6pf-Schulz-Passarge syndrome autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0009145 MONDO:0017666 False SchC6pf-Schulz-Passarge syndrome diffuse palmoplantar keratoderma UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009145 MONDO:0100358 False SchC6pf-Schulz-Passarge syndrome ectodermal dysplasia WNT10A related UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009146 MONDO:0019287 False ectodermal dysplasia-sensorineural deafness syndrome ectodermal dysplasia syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0009147 MONDO:0016619 False ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive autosomal recessive hypohidrotic ectodermal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009148 MONDO:0007124 False Rosselli-Gulienetti syndrome ankyloblepharon-ectodermal defects-cleft lip/palate syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING -MONDO:0009149 MONDO:0019287 False ectodermal dysplasia-intellectual disability-central nervous system malformation syndrome ectodermal dysplasia syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0009150 MONDO:0005151 False hypohidrotic ectodermal dysplasia-hypothyroidism-ciliary dyskinesia syndrome endocrine system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009150 MONDO:0019287 False hypohidrotic ectodermal dysplasia-hypothyroidism-ciliary dyskinesia syndrome ectodermal dysplasia syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING -MONDO:0009151 MONDO:0006025 False cleft lip/palate-ectodermal dysplasia syndrome autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0009152 MONDO:0003847 False ectopia lentis 2, isolated, autosomal recessive hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0009152 MONDO:0015998 False ectopia lentis 2, isolated, autosomal recessive isolated ectopia lentis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0009153 MONDO:0003847 False ectopia lentis et pupillae hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0009153 MONDO:0015998 False ectopia lentis et pupillae isolated ectopia lentis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0009155 MONDO:0002320 False EEM syndrome congenital nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0009155 MONDO:0018234 False EEM syndrome dysostosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0009155 MONDO:0019054 False EEM syndrome congenital limb malformation UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009155 MONDO:0019287 False EEM syndrome ectodermal dysplasia syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS MONDO:0009155 MONDO:0020242 False EEM syndrome hereditary macular dystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009156 MONDO:0002254 False ectrodactyly-polydactyly syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009156 MONDO:0019054 False ectrodactyly-polydactyly syndrome congenital limb malformation UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009158 MONDO:0000009 False Ehlers-Danlos syndrome, fibronectinemic type inherited bleeding disorder, platelet-type UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0009158 MONDO:0020066 False Ehlers-Danlos syndrome, fibronectinemic type Ehlers-Danlos syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0009158 MONDO:0021181 False Ehlers-Danlos syndrome, fibronectinemic type inherited blood coagulation disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009159 MONDO:0005267 False Ehlers-Danlos syndrome, cardiac valvular type heart disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0009162 MONDO:0005267 False Ellis-van Creveld syndrome heart disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0009162 MONDO:0006025 False Ellis-van Creveld syndrome autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0009162 MONDO:0019287 False Ellis-van Creveld syndrome ectodermal dysplasia syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS MONDO:0009163 MONDO:0003847 False encephalomalacia, multilocular hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009164 MONDO:0100198 False encephalopathy, axonal, with necrotizing myopathy, cardiomyopathy, and cataracts Mendelian encephalopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009167 MONDO:0002254 False Bonnemann-Meinecke-Reich syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009167 MONDO:0015159 False Bonnemann-Meinecke-Reich syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009167 MONDO:0100198 False Bonnemann-Meinecke-Reich syndrome Mendelian encephalopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009168 MONDO:0003847 False Fowler syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0009168 MONDO:0021147 False Fowler syndrome disorder of development or morphogenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009169 MONDO:0000470 False endocardial fibroelastosis endocardium disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0009170 MONDO:0003847 False endocardial fibroelastosis and coarctation of abdominal aorta hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009171 MONDO:0003847 False endothelial dystrophy, congenital hereditary, with nail hypoplasia hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009172 MONDO:0003847 False enterocolitis hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009173 MONDO:0003847 False congenital enteropathy due to enteropeptidase deficiency hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0009173 MONDO:0004335 False congenital enteropathy due to enteropeptidase deficiency digestive system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0009174 MONDO:0003847 False protein-losing enteropathy hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0009174 MONDO:0005020 False protein-losing enteropathy intestinal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0009175 MONDO:0020122 False eosinophilic fasciitis acquired idiopathic inflammatory myopathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009176 MONDO:0005046 False epidermodysplasia verruciformis immune system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0009175 MONDO:0004830 False eosinophilic fasciitis fasciitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009176 MONDO:0100118 False epidermodysplasia verruciformis hereditary skin disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009177 MONDO:0017612 False late-onset localized junctional epidermolysis bullosa-intellectual disability syndrome junctional epidermolysis bullosa UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0009178 MONDO:0006543 False epidermolysis bullosa dystrophica Neurotrophica epidermolysis bullosa dystrophica UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009179 MONDO:0006543 False recessive dystrophic epidermolysis bullosa epidermolysis bullosa dystrophica UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0009181 MONDO:0002254 False epidermolysis bullosa simplex 5B, with muscular dystrophy syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0009181 MONDO:0015152 False epidermolysis bullosa simplex 5B, with muscular dystrophy autosomal recessive limb-girdle muscular dystrophy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS -MONDO:0009181 MONDO:0016198 False epidermolysis bullosa simplex 5B, with muscular dystrophy qualitative or quantitative defects of plectin UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009184 MONDO:0003847 False epidermolysis bullosa with diaphragmatic hernia hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009185 MONDO:0019287 False amelocerebrohypohidrotic syndrome ectodermal dysplasia syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS MONDO:0009186 MONDO:0003847 False epilepsy, photogenic, with spastic diplegia and intellectual disability hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009187 MONDO:0100029 False celiac disease-epilepsy-cerebral calcification syndrome antibody mediated epilepsy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009188 MONDO:0015159 False epilepsy-telangiectasia syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009189 MONDO:0000226 False multiple epiphyseal dysplasia type 4 mineral metabolism disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009189 MONDO:0019052 False multiple epiphyseal dysplasia type 4 inborn errors of metabolism UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0009190 MONDO:0003847 False epiphyseal dysplasia of femoral head, myopia, and deafness hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009191 MONDO:0800063 False Lowry-Wood syndrome primordial dwarfism and slender bone disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009192 MONDO:0006025 False Wolcott-Rallison syndrome autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0009192 MONDO:0016761 False Wolcott-Rallison syndrome spondyloepiphyseal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0009193 MONDO:0003847 False epithelial squamous dysplasia, keratinizing desquamative, of urinary tract hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009194 MONDO:0003847 False immunodeficiency 32B hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0009194 MONDO:0005108 False immunodeficiency 32B viral infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0009194 MONDO:0021674 False immunodeficiency 32B post-viral disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009195 MONDO:0003847 False erythema of acral regions hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009196 MONDO:0002254 False ermine phenotype syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009197 MONDO:0020113 False transient erythroblastopenia of childhood primary acquired red cell aplasia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009198 MONDO:0005093 False congenital lethal erythroderma skin disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009199 MONDO:0003847 False ethanolaminosis hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009200 MONDO:0002254 False eyebrow duplication-syndactyly syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009201 MONDO:0003847 False facial abnormalities, kyphoscoliosis, and intellectual disability hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009202 MONDO:0043009 False Thakker-Donnai syndrome hereditary lethal multiple congenital anomalies/dysmorphic syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009204 MONDO:0003847 False lethal faciocardiomelic dysplasia hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009204 MONDO:0015160 False lethal faciocardiomelic dysplasia multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009204 MONDO:0018234 False lethal faciocardiomelic dysplasia dysostosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009204 MONDO:0019054 False lethal faciocardiomelic dysplasia congenital limb malformation UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009205 MONDO:0015159 False faciocardiorenal syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009206 MONDO:0018175 False factor V and factor VIII, combined deficiency of, type 1 combined deficiency of factor V and factor VIII UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009206 MONDO:0021181 False factor V and factor VIII, combined deficiency of, type 1 inherited blood coagulation disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009207 MONDO:0018175 False factor V and factor VIII, combined deficiency of, with normal protein C and protein C inhibitor combined deficiency of factor V and factor VIII UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009208 MONDO:0003847 False faciothoracogenital syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009209 MONDO:0006025 False autosomal recessive faciodigitogenital syndrome autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009209 MONDO:0015161 False autosomal recessive faciodigitogenital syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009209 MONDO:0021005 False autosomal recessive faciodigitogenital syndrome faciodigitogenital syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009210 MONDO:0002243 False congenital factor V deficiency hemorrhagic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0009210 MONDO:0021181 False congenital factor V deficiency inherited blood coagulation disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009210 MONDO:0020586 False congenital factor V deficiency factor V deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009211 MONDO:0002244 False congenital factor VII deficiency factor VII deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009211 MONDO:0015722 False congenital factor VII deficiency congenital vitamin K-dependent coagulation factors deficiency UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS -MONDO:0009212 MONDO:0015722 False congenital factor X deficiency congenital vitamin K-dependent coagulation factors deficiency UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS +MONDO:0009212 MONDO:0002247 False congenital factor X deficiency factor X deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009215 MONDO:0019713 False Fanconi anemia complementation group A non-syndromic limb reduction defect UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009216 MONDO:0002412 False glycogen storage disease due to GLUT2 deficiency disorder of glycogen metabolism UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING -MONDO:0009217 MONDO:0002254 False Fanconi-like syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0009217 MONDO:0003847 False Fanconi-like syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0009218 MONDO:0100524 False Farber lipogranulomatosis ASAH1-related sphingolipidosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009218 MONDO:0800460 False Farber lipogranulomatosis ASAH1-related disorders UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009219 MONDO:0008492 False fascial dystrophy, congenital stiff skin syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0009220 MONDO:0004790 False visceral steatosis, congenital fatty liver disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009221 MONDO:0018234 False femur-fibula-ulna complex dysostosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009221 MONDO:0019054 False femur-fibula-ulna complex congenital limb malformation UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009221 MONDO:0019713 False femur-fibula-ulna complex non-syndromic limb reduction defect UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009222 MONDO:0018234 False Gollop-Wolfgang complex dysostosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009222 MONDO:0019054 False Gollop-Wolfgang complex congenital limb malformation UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009222 MONDO:0019713 False Gollop-Wolfgang complex non-syndromic limb reduction defect UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009223 MONDO:0019155 False hypogonadotropic hypogonadism 23 with or without anosmia Leydig cell hypoplasia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0009224 MONDO:0016555 False fetal iodine syndrome transient congenital hypothyroidism due to maternal factor UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009224 MONDO:0016677 False fetal iodine syndrome toxic or drug-related embryofetopathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009225 MONDO:0003847 False fever, familial lifelong persistent hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009228 MONDO:0002254 False gingival fibromatosis-facial dysmorphism syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009228 MONDO:0015161 False gingival fibromatosis-facial dysmorphism syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009229 MONDO:0019707 False hyaline fibromatosis syndrome primary osteolysis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009230 MONDO:0003847 False fibrosclerosis, multifocal hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009230 MONDO:0018848 False fibrosclerosis, multifocal IgG4-related retroperitoneal fibrosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009231 MONDO:0006025 False acromesomelic dysplasia 2B autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0009231 MONDO:0018234 False acromesomelic dysplasia 2B dysostosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0009231 MONDO:0019054 False acromesomelic dysplasia 2B congenital limb malformation UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009232 MONDO:0018234 False Fuhrmann syndrome dysostosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0009232 MONDO:0019054 False Fuhrmann syndrome congenital limb malformation UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009232 MONDO:0019713 False Fuhrmann syndrome non-syndromic limb reduction defect UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009233 MONDO:0015161 False Fibulo-ulnar hypoplasia-renal anomalies syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009234 MONDO:0002242 False congenital high-molecular-weight kininogen deficiency coagulation protein disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009234 MONDO:0002243 False congenital high-molecular-weight kininogen deficiency hemorrhagic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0009234 MONDO:0021181 False congenital high-molecular-weight kininogen deficiency inherited blood coagulation disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009235 MONDO:0019118 False familial benign flecked retina inherited retinal dystrophy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0009236 MONDO:0016420 False Kandori fleck retina familial flecked retinopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009237 MONDO:0003847 False focal epithelial hyperplasia hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0009237 MONDO:0005108 False focal epithelial hyperplasia viral infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0009237 MONDO:0005043 False focal epithelial hyperplasia hyperplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009238 MONDO:0001700 False hereditary folate malabsorption megaloblastic anemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0009238 MONDO:0016624 False hereditary folate malabsorption inherited deficiency anemia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009238 MONDO:0017313 False hereditary folate malabsorption disorder of folate metabolism and transport UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009238 MONDO:0020598 False hereditary folate malabsorption malabsorption syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009240 MONDO:0001700 False formiminoglutamic aciduria megaloblastic anemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0009240 MONDO:0016624 False formiminoglutamic aciduria inherited deficiency anemia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009240 MONDO:0017313 False formiminoglutamic aciduria disorder of folate metabolism and transport UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009241 MONDO:0015159 False fountain syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009242 MONDO:0000942 False brittle cornea syndrome corneal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0009242 MONDO:0006025 False brittle cornea syndrome autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0009242 MONDO:0020066 False brittle cornea syndrome Ehlers-Danlos syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS MONDO:0009242 MONDO:0023603 False brittle cornea syndrome hereditary disorder of connective tissue UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009243 MONDO:0003847 False Fraser-like syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009244 MONDO:0003847 False Freesia Flowers, inability to smell hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009246 MONDO:0003847 False Friedreich ataxia and congenital glaucoma hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009247 MONDO:0002254 False frontofacionasal dysplasia syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009247 MONDO:0015161 False frontofacionasal dysplasia multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009247 MONDO:0016643 False frontofacionasal dysplasia frontonasal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0009248 MONDO:0003847 False fructose and galactose intolerance hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009249 MONDO:0017689 False hereditary fructose intolerance disorder of fructose metabolism UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009249 MONDO:0800152 False hereditary fructose intolerance disorder of galactose and fructose metabolism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009251 MONDO:0019225 False fructose-1,6-bisphosphatase deficiency disorder of gluconeogenesis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009252 MONDO:0017689 False essential fructosuria disorder of fructose metabolism UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009252 MONDO:0800152 False essential fructosuria disorder of galactose and fructose metabolism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009253 MONDO:0015159 False Fryns syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009254 MONDO:0019251 False fucosidosis oligosaccharidosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009254 MONDO:0800088 False fucosidosis lysosomal storage disease with skeletal involvement UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009253 MONDO:0002254 False Fryns syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009255 MONDO:0800152 False galactokinase deficiency disorder of galactose and fructose metabolism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009256 MONDO:0003847 False galactorrhea hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009258 MONDO:0019852 False classic galactosemia inherited primary ovarian failure UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0009258 MONDO:0800152 False classic galactosemia disorder of galactose and fructose metabolism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009259 MONDO:0040566 False gamma-glutamylcysteine synthetase deficiency inherited glutathione metabolism disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009260 MONDO:0015905 False GM1 gangliosidosis type 1 syndromic dyslipidemia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009260 MONDO:0018149 False GM1 gangliosidosis type 1 GM1 gangliosidosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0009260 MONDO:0800088 False GM1 gangliosidosis type 1 lysosomal storage disease with skeletal involvement UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009261 MONDO:0018149 False GM1 gangliosidosis type 2 GM1 gangliosidosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0009262 MONDO:0018149 False GM1 gangliosidosis type 3 GM1 gangliosidosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0009263 MONDO:0015159 False GAPO syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009263 MONDO:0019287 False GAPO syndrome ectodermal dysplasia syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS MONDO:0009264 MONDO:0100298 False gastroschisis abdominal wall malformation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009265 MONDO:0016340 False Gaucher disease type I familial restrictive cardiomyopathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING -MONDO:0009265 MONDO:0018150 False Gaucher disease type I Gaucher disease UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0009265 MONDO:0018374 False Gaucher disease type I secondary avascular necrosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009265 MONDO:0018383 False Gaucher disease type I osteonecrosis of genetic origin UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009265 MONDO:0020143 False Gaucher disease type I cerebral lipidosis with dementia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0009266 MONDO:0018150 False Gaucher disease type II Gaucher disease UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0009267 MONDO:0018150 False Gaucher disease type III Gaucher disease UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0009268 MONDO:0018150 False Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome Gaucher disease UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0009270 MONDO:0005151 False genito-palato-cardiac syndrome endocrine system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009270 MONDO:0015161 False genito-palato-cardiac syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009271 MONDO:0100237 False geroderma osteodysplastica inherited cutis laxa UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0009271 MONDO:0800064 False geroderma osteodysplastica osteogenesis imperfecta and a reduction of bone mineral density. UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009272 MONDO:0002254 False German syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009272 MONDO:0016009 False German syndrome fetal trimethadione syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009272 MONDO:0019175 False German syndrome primary lymphedema UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009273 MONDO:0016785 False hydatidiform mole, recurrent, 1 complete hydatidiform mole UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009273 MONDO:0018944 False hydatidiform mole, recurrent, 1 gestational trophoblastic neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009274 MONDO:0018230 False ghosal hematodiaphyseal dysplasia skeletal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009275 MONDO:0006507 False neonatal hemochromatosis hereditary hemochromatosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0009276 MONDO:0002254 False Bernard-Soulier syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0009277 MONDO:0800472 False glaucoma 3A CYP1B1-related glaucoma with or without anterior segment dysgenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009279 MONDO:0002254 False triple-A syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0009279 MONDO:0006025 False triple-A syndrome autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0009279 MONDO:0015129 False triple-A syndrome chronic primary adrenal insufficiency UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS MONDO:0009280 MONDO:0003847 False monosodium glutamate sensitivity hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009281 MONDO:0000129 False glutaryl-CoA dehydrogenase deficiency glutaric aciduria UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009281 MONDO:0000688 False glutaryl-CoA dehydrogenase deficiency inborn organic aciduria UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0009281 MONDO:0005071 False glutaryl-CoA dehydrogenase deficiency nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0009282 MONDO:0000129 False multiple acyl-CoA dehydrogenase deficiency glutaric aciduria UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009282 MONDO:0004069 False multiple acyl-CoA dehydrogenase deficiency inborn mitochondrial metabolism disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0009282 MONDO:0017714 False multiple acyl-CoA dehydrogenase deficiency acyl-CoA dehydrogenase deficiency UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009282 MONDO:0024573 False multiple acyl-CoA dehydrogenase deficiency familial hypertrophic cardiomyopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS MONDO:0009283 MONDO:0000129 False glutaric acidemia type 3 glutaric aciduria UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009283 MONDO:0000688 False glutaric acidemia type 3 inborn organic aciduria UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0009284 MONDO:0017909 False glutathione synthetase deficiency without 5-oxoprolinuria inherited glutathione synthetase deficiency UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0009285 MONDO:0040566 False gamma-glutamyl transpeptidase deficiency inherited glutathione metabolism disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009286 MONDO:0003847 False gluteal muscles, absence of hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009287 MONDO:0002413 False glycogen storage disease due to glucose-6-phosphatase deficiency type IA glycogen storage disease I UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0009288 MONDO:0015134 False glycogen storage disease Ib constitutional neutropenia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009288 MONDO:0023258 False glycogen storage disease Ib glycogen storage disease type 1 due to SLC37A4 mutation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009290 MONDO:0016340 False glycogen storage disease II familial restrictive cardiomyopathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING -MONDO:0009290 MONDO:0017738 False glycogen storage disease II lysosomal glycogen storage disease UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009295 MONDO:0003689 False glycogen storage disease VII familial hemolytic anemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0009295 MONDO:0017688 False glycogen storage disease VII disorder of glycolysis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009295 MONDO:0020585 False glycogen storage disease VII anemia due to erythrocyte enzyme disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009296 MONDO:0002561 False glycoprotein storage disease lysosomal storage disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009297 MONDO:0006510 False familial renal glucosuria renal tubular transport disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0009297 MONDO:0019226 False familial renal glucosuria glucose transport disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009297 MONDO:0100191 False familial renal glucosuria inherited kidney disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009298 MONDO:0003847 False GOMBO syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009299 MONDO:0019852 False 46 XX gonadal dysgenesis inherited primary ovarian failure UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING -MONDO:0009302 MONDO:0020040 False XY type gonadal dysgenesis-associated anomalies syndrome 46,XY disorder of sex development UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009305 MONDO:0003847 False granulocytopenia with immunoglobulin abnormality hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0009306 MONDO:0017855 False combined immunodeficiency with skin granulomas T-B- severe combined immunodeficiency UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009306 MONDO:0100118 False combined immunodeficiency with skin granulomas hereditary skin disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009307 MONDO:0018305 False granulomatous disease with defect in neutrophil chemotaxis chronic granulomatous disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009311 MONDO:0003847 False grouped pigmentation of the retina hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009312 MONDO:0020087 False lipodystrophy due to peptidic growth factors deficiency hereditary lipodystrophy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009313 MONDO:0002254 False Grubben-de Cock-Borghgraef syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009315 MONDO:0000429 False congenital factor XII deficiency autosomal genetic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0009315 MONDO:0002242 False congenital factor XII deficiency coagulation protein disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009315 MONDO:0002243 False congenital factor XII deficiency hemorrhagic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0009315 MONDO:0009332 False congenital factor XII deficiency congenital hematological disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009315 MONDO:0021181 False congenital factor XII deficiency inherited blood coagulation disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009318 MONDO:0019303 False Hallermann-Streiff syndrome premature aging syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009318 MONDO:0800063 False Hallermann-Streiff syndrome primordial dwarfism and slender bone disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009319 MONDO:0016987 False pantothenate kinase-associated neurodegeneration neuroacanthocytosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0009319 MONDO:0018117 False pantothenate kinase-associated neurodegeneration disorder of phospholipids, sphingolipids and fatty acids biosynthesis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009320 MONDO:0015159 False Hall-Riggs syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009321 MONDO:0019054 False hallux varus-preaxial polysyndactyly syndrome congenital limb malformation UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009323 MONDO:0003847 False Halothane hepatitis hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009324 MONDO:0019216 False Hartnup disease inborn disorder of amino acid transport UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009326 MONDO:0000465 False congenital heart block atrioventricular block UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0009327 MONDO:0003847 False heart, malformation of hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009327 MONDO:0019512 False heart, malformation of congenital heart malformation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009328 MONDO:0003847 False hemangiomatosis, cutaneous, with associated features hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009330 MONDO:0016238 False hemangiopericytoma, malignant solitary fibrous tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009331 MONDO:0019716 False isolated hemihyperplasia overgrowth syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009332 MONDO:0005570 False congenital hematological disorder hematologic disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009333 MONDO:0002254 False mullerian derivatives-lymphangiectasia-polydactyly syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009333 MONDO:0019175 False mullerian derivatives-lymphangiectasia-polydactyly syndrome primary lymphedema UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009334 MONDO:0017319 False hemolytic anemia with thermal sensitivity of red cells hereditary elliptocytosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009335 MONDO:0020573 False hemolytic uremic syndrome, atypical, susceptibility to, 1 inherited disease susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009336 MONDO:0008346 False hemosiderosis, pulmonary, with deficiency of gamma-a globulin pulmonary hemosiderosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING -MONDO:0009338 MONDO:0003778 False hepatic veno-occlusive disease-immunodeficiency syndrome inborn error of immunity UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0009338 MONDO:0019514 False hepatic veno-occlusive disease-immunodeficiency syndrome hepatic veno-occlusive disease UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0009340 MONDO:0003689 False non-spherocytic hemolytic anemia due to hexokinase deficiency familial hemolytic anemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009340 MONDO:0017688 False non-spherocytic hemolytic anemia due to hexokinase deficiency disorder of glycolysis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009340 MONDO:0020585 False non-spherocytic hemolytic anemia due to hexokinase deficiency anemia due to erythrocyte enzyme disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009341 MONDO:0000508 False Mowat-Wilson syndrome syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0009341 MONDO:0002320 False Mowat-Wilson syndrome congenital nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0009341 MONDO:0015159 False Mowat-Wilson syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009341 MONDO:0015653 False Mowat-Wilson syndrome monogenic epilepsy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009342 MONDO:0002254 False Hirschsprung disease-hearing loss-polydactyly syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009342 MONDO:0015161 False Hirschsprung disease-hearing loss-polydactyly syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009342 MONDO:0021189 False Hirschsprung disease-hearing loss-polydactyly syndrome intestinal motility disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009343 MONDO:0003847 False Hirschsprung disease with ulnar polydactyly, polysyndactyly of big toes, and ventricular septal defect hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009344 MONDO:0002254 False Hirschsprung disease-nail hypoplasia-dysmorphism syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009344 MONDO:0021189 False Hirschsprung disease-nail hypoplasia-dysmorphism syndrome intestinal motility disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009345 MONDO:0019228 False histidinemia inborn disorder of histidine metabolism UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0009346 MONDO:0009345 False histidinuria due to a renal tubular defect histidinemia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0009346 MONDO:0019216 False histidinuria due to a renal tubular defect inborn disorder of amino acid transport UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009347 MONDO:0003847 False familial lipochrome histiocytosis hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009347 MONDO:0024627 False familial lipochrome histiocytosis phagocytic cell dysfunction UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009350 MONDO:0002254 False Holzgreve-Wagner-Rehder syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0009350 MONDO:0015161 False Holzgreve-Wagner-Rehder syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009351 MONDO:0000698 False homocarnosinosis gamma-amino butyric acid metabolism disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0009351 MONDO:0019232 False homocarnosinosis inborn disorder of peptide metabolism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009352 MONDO:0001176 False classic homocystinuria lens disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009352 MONDO:0004737 False classic homocystinuria homocystinuria UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009352 MONDO:0015327 False classic homocystinuria developmental anomaly of metabolic origin UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009353 MONDO:0004737 False homocystinuria due to methylene tetrahydrofolate reductase deficiency homocystinuria UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009353 MONDO:0017313 False homocystinuria due to methylene tetrahydrofolate reductase deficiency disorder of folate metabolism and transport UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009353 MONDO:0020127 False homocystinuria due to methylene tetrahydrofolate reductase deficiency hereditary peripheral neuropathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009354 MONDO:0018964 False methylcobalamin deficiency type cblE homocystinuria without methylmalonic aciduria UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009355 MONDO:0003847 False Hooft disease hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009356 MONDO:0006025 False autosomal recessive humeroradial synostosis autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009356 MONDO:0007737 False autosomal recessive humeroradial synostosis humeroradial synostosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0009357 MONDO:0007737 False humeroradial synostosis with craniofacial anomalies humeroradial synostosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0009358 MONDO:0003847 False Hutterite cerebroosteonephrodysplasia syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009359 MONDO:0002254 False multinucleated neurons-anhydramnios-renal dysplasia-cerebellar hypoplasia-hydranencephaly syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0009359 MONDO:0006025 False multinucleated neurons-anhydramnios-renal dysplasia-cerebellar hypoplasia-hydranencephaly syndrome autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0009359 MONDO:0043009 False multinucleated neurons-anhydramnios-renal dysplasia-cerebellar hypoplasia-hydranencephaly syndrome hereditary lethal multiple congenital anomalies/dysmorphic syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009360 MONDO:0006025 False hydrocephalus, nonsyndromic, autosomal recessive 1 autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009361 MONDO:0006025 False autosomal recessive hydrocephalus due to congenital stenosis of aqueduct of Sylvius autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009361 MONDO:0016349 False autosomal recessive hydrocephalus due to congenital stenosis of aqueduct of Sylvius congenital hydrocephalus UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0009362 MONDO:0002254 False growth delay-hydrocephaly-lung hypoplasia syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009362 MONDO:0005087 False growth delay-hydrocephaly-lung hypoplasia syndrome respiratory system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009363 MONDO:0015161 False hydrocephaly-tall stature-joint laxity syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009364 MONDO:0018939 False muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 muscle-eye-brain disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009364 MONDO:0700070 False muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 myopathy caused by variation in POMT1 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009366 MONDO:0002045 False normal pressure hydrocephalus communicating hydrocephalus UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0009367 MONDO:0003847 False McKusick-Kaufman syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0009367 MONDO:0015161 False McKusick-Kaufman syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009370 MONDO:0016001 False L-2-hydroxyglutaric aciduria 2-hydroxyglutaric aciduria UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0009371 MONDO:0019215 False 3-hydroxyisobutyric aciduria classic organic aciduria UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009371 MONDO:0019242 False 3-hydroxyisobutyric aciduria inborn disorder of branched-chain amino acid metabolism UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009371 MONDO:0037870 False 3-hydroxyisobutyric aciduria valine metabolism disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009372 MONDO:0017350 False encephalopathy due to hydroxykynureninuria inborn disorder of tryptophan metabolism UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009373 MONDO:0017351 False seizures-intellectual disability due to hydroxylysinuria syndrome inborn disorder of lysine and hydroxylysine metabolism UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009374 MONDO:0003847 False hydroxyprolinemia hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009375 MONDO:0003847 False hymen, imperforate hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009376 MONDO:0800153 False carbamoyl phosphate synthetase I deficiency disease urea cycle disorder or inherited hyperammonemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009377 MONDO:0800153 False hyperammonemia due to N-acetylglutamate synthase deficiency urea cycle disorder or inherited hyperammonemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009378 MONDO:0019238 False hyper-beta-alaninemia inborn disorder of pyrimidine metabolism UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009380 MONDO:0002254 False Dubin-Johnson syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0009381 MONDO:0002408 False hyperbilirubinemia, conjugated, type 3 hereditary hyperbilirubinemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0009382 MONDO:0002408 False hyperbilirubinemia, shunt, primary hereditary hyperbilirubinemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0009383 MONDO:0005154 False transient familial neonatal hyperbilirubinemia liver disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -18286,112 +23438,79 @@ MONDO:0009384 MONDO:0019155 False Leydig cell hypoplasia, type 1 Leydig cell hyp MONDO:0009385 MONDO:0003847 False hyperleucine-Isoleucinemia hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009386 MONDO:0001697 False hyperlexia reading disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009386 MONDO:0003847 False hyperlexia hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009387 MONDO:0001336 False familial lipoprotein lipase deficiency familial hyperlipidemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0009387 MONDO:0015905 False familial lipoprotein lipase deficiency syndromic dyslipidemia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009387 MONDO:0018637 False familial lipoprotein lipase deficiency familial chylomicronemia syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0009388 MONDO:0004736 False hyperlysinemia inborn disorder of amino acid metabolism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0009388 MONDO:0017351 False hyperlysinemia inborn disorder of lysine and hydroxylysine metabolism UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009387 MONDO:0037748 False familial lipoprotein lipase deficiency hyperlipoproteinemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009389 MONDO:0009388 False hyperlysinemia due to defect in lysine transport into mitochondria hyperlysinemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0009390 MONDO:0003847 False hyperlysinuria with hyperammonemia hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009391 MONDO:0003847 False hypermetabolism due to defect in mitochondria hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009392 MONDO:0003847 False hyperopia, high hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009393 MONDO:0002254 False ornithine translocase deficiency syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0009393 MONDO:0800153 False ornithine translocase deficiency urea cycle disorder or inherited hyperammonemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009395 MONDO:0018230 False hyperostosis corticalis generalisata skeletal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009396 MONDO:0003847 False hyperparathyroidism, neonatal self-limited primary, with hypercalciuria hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009397 MONDO:0016365 False neonatal severe primary hyperparathyroidism familial primary hyperparathyroidism UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009397 MONDO:0019060 False neonatal severe primary hyperparathyroidism bone neoplasm UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009397 MONDO:0023603 False neonatal severe primary hyperparathyroidism hereditary disorder of connective tissue UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009397 MONDO:0800096 False neonatal severe primary hyperparathyroidism abnormal mineralization disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009399 MONDO:0003847 False hyperphosphatemia, polyuria, and seizures hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009400 MONDO:0023419 False hyperprolinemia type 1 hyperprolinemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0009401 MONDO:0023419 False hyperprolinemia type 2 hyperprolinemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0009402 MONDO:0002254 False acrofrontofacionasal dysostosis 2 syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009402 MONDO:0008715 False acrofrontofacionasal dysostosis 2 acrofrontofacionasal dysostosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009402 MONDO:0015161 False acrofrontofacionasal dysostosis 2 multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009403 MONDO:0003847 False hypertelorism and tetralogy of fallot hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009404 MONDO:0006025 False hypertelorism, microtia, facial clefting syndrome autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0009404 MONDO:0015159 False hypertelorism, microtia, facial clefting syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009405 MONDO:0019280 False cervical hypertrichosis-peripheral neuropathy syndrome hypertrichosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009405 MONDO:0020022 False cervical hypertrichosis-peripheral neuropathy syndrome central nervous system malformation UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009406 MONDO:0002254 False hypertrichotic osteochondrodysplasia Cantu type syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0009406 MONDO:0003847 False hypertrichotic osteochondrodysplasia Cantu type hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0009406 MONDO:0005516 False hypertrichotic osteochondrodysplasia Cantu type osteochondrodysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0009406 MONDO:0015160 False hypertrichotic osteochondrodysplasia Cantu type multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009407 MONDO:0003847 False hypertrophic neuropathy and cataract hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009408 MONDO:0003847 False hyperuricemia, infantile, with abnormal behavior and normal hypoxanthine guanine phosphoribosyltransferase hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009409 MONDO:0020573 False hypervitaminosis a, susceptibility to inherited disease susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009411 MONDO:0005495 False autoimmune polyendocrine syndrome type 1 adrenal gland disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0009411 MONDO:0016165 False autoimmune polyendocrine syndrome type 1 hereditary hypoparathyroidism UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009411 MONDO:0018242 False autoimmune polyendocrine syndrome type 1 autoimmune hypoparathyroidism UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009412 MONDO:0024298 False scurvy vitamin deficiency disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009412 MONDO:0037792 False scurvy carbohydrate metabolism disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009412 MONDO:0045022 False scurvy disorder of organic acid metabolism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009414 MONDO:0002412 False glycogen storage disorder due to hepatic glycogen synthase deficiency disorder of glycogen metabolism UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING -MONDO:0009415 MONDO:0003847 False hypoglycemia, leucine-induced hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0009416 MONDO:0003847 False hypoinsulinemic hypoglycemia and body hemihypertrophy hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0009416 MONDO:0005151 False hypoinsulinemic hypoglycemia and body hemihypertrophy endocrine system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0009416 MONDO:0019716 False hypoinsulinemic hypoglycemia and body hemihypertrophy overgrowth syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009417 MONDO:0002254 False hypergonadotropic hypogonadism-cataract syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009418 MONDO:0003847 False hypogonadism with low-grade mental deficiency and microcephaly hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009419 MONDO:0015770 False Woodhouse-Sakati syndrome congenital hypogonadotropic hypogonadism UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009419 MONDO:0018307 False Woodhouse-Sakati syndrome neurodegeneration with brain iron accumulation UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS -MONDO:0009419 MONDO:0044807 False Woodhouse-Sakati syndrome inherited dystonia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0009420 MONDO:0002254 False primary hypergonadotropic hypogonadism-partial alopecia syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009421 MONDO:0002146 False hypogonadism, male hypogonadism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009421 MONDO:0003847 False hypogonadism, male hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009422 MONDO:0003847 False hypohidrosis with abnormal palmar dermal Ridges hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009423 MONDO:0003847 False hypokalemic alkalosis, familial, with specific renal tubulopathy hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009425 MONDO:0015160 False hypomandibular faciocranial dysostosis multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009426 MONDO:0006025 False hypoparathyroidism-retardation-dysmorphism syndrome autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0009426 MONDO:0015159 False hypoparathyroidism-retardation-dysmorphism syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009426 MONDO:0800063 False hypoparathyroidism-retardation-dysmorphism syndrome primordial dwarfism and slender bone disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009429 MONDO:0003847 False hypophosphatemia, renal, with intracerebral calcifications hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009430 MONDO:0017324 False hypophosphatemic rickets, autosomal recessive, 1 autosomal recessive hypophosphatemic rickets UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009430 MONDO:0800096 False hypophosphatemic rickets, autosomal recessive, 1 abnormal mineralization disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009431 MONDO:0000044 False hereditary hypophosphatemic rickets with hypercalciuria hereditary hypophosphatemic rickets UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0009431 MONDO:0800096 False hereditary hypophosphatemic rickets with hypercalciuria abnormal mineralization disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009432 MONDO:0003847 False hypopituitarism, congenital, with central diabetes insipidus hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009435 MONDO:0002254 False hypospadias-intellectual disability, Goldblatt type syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009435 MONDO:0015159 False hypospadias-intellectual disability, Goldblatt type syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009436 MONDO:0007804 False congenital hypothalamic hamartoma syndrome Pallister-Hall syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0009437 MONDO:0002254 False Bamforth-Lazarus syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0009437 MONDO:0003847 False Bamforth-Lazarus syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0009437 MONDO:0005151 False Bamforth-Lazarus syndrome endocrine system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0009438 MONDO:0009071 False hypouricemia, hypercalcinuria, and decreased bone density hereditary renal hypouricemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009439 MONDO:0017267 False autosomal recessive congenital ichthyosis 2 self-healing collodion baby UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009439 MONDO:0019306 False autosomal recessive congenital ichthyosis 2 congenital non-bullous ichthyosiform erythroderma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009442 MONDO:0003847 False ichthyosis congenita with biliary atresia hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009443 MONDO:0011026 False autosomal recessive congenital ichthyosis 4B autosomal recessive congenital ichthyosis 4A UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS -MONDO:0009444 MONDO:0019287 False ichthyosis-alopecia-eclabion-ectropion-intellectual disability syndrome ectodermal dysplasia syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0009445 MONDO:0002254 False ichthyosis-hepatosplenomegaly-cerebellar degeneration syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009445 MONDO:0100309 False ichthyosis-hepatosplenomegaly-cerebellar degeneration syndrome hereditary ataxia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009446 MONDO:0002254 False ichthyosis-intellectual disability-dwarfism-renal impairment syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009446 MONDO:0003847 False ichthyosis-intellectual disability-dwarfism-renal impairment syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009447 MONDO:0003847 False ichthyosis, split hairs, and amino aciduria hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009448 MONDO:0019216 False iminoglycinuria inborn disorder of amino acid transport UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009449 MONDO:0016575 False ciliary dyskinesia with defective radial spokes primary ciliary dyskinesia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0009450 MONDO:0016575 False ciliary dyskinesia with excessively long cilia primary ciliary dyskinesia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING -MONDO:0009451 MONDO:0001222 False Nezelof syndrome congenital T-cell immunodeficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0009452 MONDO:0005046 False Vici syndrome immune system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0009452 MONDO:0006025 False Vici syndrome autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0009452 MONDO:0015161 False Vici syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009453 MONDO:0003847 False immune deficiency disease hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009453 MONDO:0005046 False immune deficiency disease immune system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009455 MONDO:0003847 False immunodeficiency, partial combined, with absence of HLA Determinants and beta-2-microglobulin from lymphocytes hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009456 MONDO:0009973 False Immunoerythromyeloid hypoplasia reticular dysgenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0009457 MONDO:0003847 False immunoglobulin d level in plasma, low hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009458 MONDO:0015708 False Schimke immuno-osseous dysplasia immuno-osseous dysplasia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009458 MONDO:0016761 False Schimke immuno-osseous dysplasia spondyloepiphyseal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0009459 MONDO:0002254 False channelopathy-associated congenital insensitivity to pain, autosomal recessive syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009459 MONDO:0003847 False channelopathy-associated congenital insensitivity to pain, autosomal recessive hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009460 MONDO:0003847 False indolylacroyl glycinuria with intellectual disability hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009461 MONDO:0018394 False spermatogenic failure 5 male infertility with teratozoospermia due to single gene mutation UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009462 MONDO:0003847 False inosine phosphorylase deficiency, immune defect due to hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009463 MONDO:0003847 False internal carotid arteries, hypoplasia of hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009464 MONDO:0003778 False immunodeficiency with defective T-cell response to interleukin 1 inborn error of immunity UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009465 MONDO:0006025 False multiple intestinal atresia autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0009465 MONDO:0021147 False multiple intestinal atresia disorder of development or morphogenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009467 MONDO:0021147 False natal teeth-intestinal pseudoobstruction-patent ductus syndrome disorder of development or morphogenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009468 MONDO:0006810 False pseudotumor cerebri intracranial hypertension UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0009468 MONDO:0011057 False pseudotumor cerebri cerebrovascular disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0009469 MONDO:0015762 False benign recurrent intrahepatic cholestasis type 1 progressive familial intrahepatic cholestasis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS MONDO:0009470 MONDO:0700120 False Baraitser-Winter syndrome 1 BAFopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -18399,112 +23518,50 @@ MONDO:0009471 MONDO:0009852 False intrinsic factor and r binder, combined congen MONDO:0009472 MONDO:0003847 False acetylation, slow hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009473 MONDO:0015160 False isotretinoin-like syndrome multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009474 MONDO:0003847 False isovaleric acid, inability to smell hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009475 MONDO:0019215 False isovaleric acidemia classic organic aciduria UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009476 MONDO:0021147 False atresia of small intestine disorder of development or morphogenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009476 MONDO:0024635 False atresia of small intestine small intestine disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009477 MONDO:0015159 False Stromme syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009477 MONDO:0016575 False Stromme syndrome primary ciliary dyskinesia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS -MONDO:0009477 MONDO:0043009 False Stromme syndrome hereditary lethal multiple congenital anomalies/dysmorphic syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009479 MONDO:0002320 False Johanson-Blizzard syndrome congenital nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0009479 MONDO:0005365 False Johanson-Blizzard syndrome hearing loss disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009479 MONDO:0006025 False Johanson-Blizzard syndrome autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0009479 MONDO:0015159 False Johanson-Blizzard syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009479 MONDO:0037940 False Johanson-Blizzard syndrome inherited auditory system disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009480 MONDO:0002254 False Joubert syndrome with oculorenal defect syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009480 MONDO:0015369 False Joubert syndrome with oculorenal defect Joubert syndrome and related disorders UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009480 MONDO:0020022 False Joubert syndrome with oculorenal defect central nervous system malformation UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009480 MONDO:0024458 False Joubert syndrome with oculorenal defect disorder of visual system UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009481 MONDO:0003847 False Jumping Frenchmen of Maine hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009482 MONDO:0018800 False hypogonadotropic hypogonadism 3 with or without anosmia Kallmann syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0009483 MONDO:0015159 False Kapur-Toriello syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009485 MONDO:0002254 False oculocerebrofacial syndrome, Kaufman type syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0009485 MONDO:0003847 False oculocerebrofacial syndrome, Kaufman type hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0009485 MONDO:0015159 False oculocerebrofacial syndrome, Kaufman type multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009486 MONDO:0006025 False autosomal recessive Kenny-Caffey syndrome autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0009487 MONDO:0003847 False keratoconus and congenital hip dysplasia hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009488 MONDO:0003847 False keratoconus posticus circumscriptus hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009489 MONDO:0017666 False hereditary palmoplantar keratoderma, Gamborg-Nielsen type diffuse palmoplantar keratoderma UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009490 MONDO:0002635 False Papillon-Lefevre disease periodontal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0009490 MONDO:0006025 False Papillon-Lefevre disease autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0009490 MONDO:0015978 False Papillon-Lefevre disease functional neutrophil defect UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009490 MONDO:0017666 False Papillon-Lefevre disease diffuse palmoplantar keratoderma UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009490 MONDO:0017739 False Papillon-Lefevre disease disorder of lysosomal-related organelles UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009490 MONDO:0800465 False Papillon-Lefevre disease CTSC-related disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009491 MONDO:0006025 False Haim-Munk syndrome autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009491 MONDO:0017666 False Haim-Munk syndrome diffuse palmoplantar keratoderma UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009491 MONDO:0017739 False Haim-Munk syndrome disorder of lysosomal-related organelles UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009491 MONDO:0800465 False Haim-Munk syndrome CTSC-related disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009492 MONDO:0019229 False succinyl-CoA:3-ketoacid CoA transferase deficiency inborn disorder of ketolysis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009493 MONDO:0100309 False Richards-Rundle syndrome hereditary ataxia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009495 MONDO:0015159 False Keutel syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009495 MONDO:0019054 False Keutel syndrome congenital limb malformation UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009495 MONDO:0019701 False Keutel syndrome chondrodysplasia punctata UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009496 MONDO:0003847 False Kniest-like dysplasia with pursed lips and ectopia lentis hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009497 MONDO:0003847 False Kifafa seizure disorder hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009498 MONDO:0005516 False lethal Kniest-like dysplasia osteochondrodysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009498 MONDO:0018230 False lethal Kniest-like dysplasia skeletal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009499 MONDO:0004884 False Krabbe disease eye degenerative disorder UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0009499 MONDO:0020127 False Krabbe disease hereditary peripheral neuropathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009500 MONDO:0015979 False kuru, susceptibility to hereditary predisposition to infections UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009501 MONDO:0020123 False metabolic myopathy due to lactate transporter defect metabolic myopathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009501 MONDO:0700223 False metabolic myopathy due to lactate transporter defect hereditary skeletal muscle disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009504 MONDO:0006040 False mitochondrial DNA depletion syndrome 9 lactic acidosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009504 MONDO:0016796 False mitochondrial DNA depletion syndrome 9 mitochondrial DNA depletion syndrome, encephalomyopathic form UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009505 MONDO:0017688 False lactic aciduria due to D-lactic acid disorder of glycolysis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009506 MONDO:0003847 False specific granule deficiency hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009506 MONDO:0015978 False specific granule deficiency functional neutrophil defect UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009506 MONDO:0024626 False specific granule deficiency defective phagocytic cell engulfment UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009507 MONDO:0015159 False Lambert syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009508 MONDO:0003847 False Lambotte syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009509 MONDO:0000414 False Landau-Kleffner syndrome childhood electroclinical syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0009509 MONDO:0002254 False Landau-Kleffner syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0009509 MONDO:0015653 False Landau-Kleffner syndrome monogenic epilepsy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009509 MONDO:0020072 False Landau-Kleffner syndrome childhood-onset epilepsy syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009511 MONDO:0005267 False Larsen-like syndrome, B3GAT3 type heart disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0009511 MONDO:0015286 False Larsen-like syndrome, B3GAT3 type congenital disorder of glycosylation UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0009511 MONDO:0015327 False Larsen-like syndrome, B3GAT3 type developmental anomaly of metabolic origin UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009511 MONDO:0018230 False Larsen-like syndrome, B3GAT3 type skeletal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009512 MONDO:0019755 False lethal Larsen-like syndrome developmental defect during embryogenesis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009513 MONDO:0002254 False laryngo-onycho-cutaneous syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009513 MONDO:0005087 False laryngo-onycho-cutaneous syndrome respiratory system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009513 MONDO:0017612 False laryngo-onycho-cutaneous syndrome junctional epidermolysis bullosa UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING -MONDO:0009514 MONDO:0006025 False Laurence-Moon syndrome autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0009514 MONDO:0015159 False Laurence-Moon syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009514 MONDO:0015770 False Laurence-Moon syndrome congenital hypogonadotropic hypogonadism UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009515 MONDO:0001822 False Norum disease hypolipoproteinemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0009515 MONDO:0018999 False Norum disease LCAT deficiency UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009516 MONDO:0003847 False absence deformity of leg-cataract syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009516 MONDO:0018234 False absence deformity of leg-cataract syndrome dysostosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009516 MONDO:0019054 False absence deformity of leg-cataract syndrome congenital limb malformation UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009517 MONDO:0006025 False Donohue syndrome autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0009517 MONDO:0015161 False Donohue syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009518 MONDO:0015979 False leprosy, susceptibility to, 3 hereditary predisposition to infections UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009519 MONDO:0017025 False letterer-Siwe disease Langerhans cell histiocytosis specific to childhood UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009520 MONDO:0017713 False 3-hydroxy-3-methylglutaric aciduria disorder of fatty acid oxidation and ketogenesis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009520 MONDO:0019215 False 3-hydroxy-3-methylglutaric aciduria classic organic aciduria UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009521 MONDO:0003847 False leukemia, acute myelocytic, with polyposis coli and colon cancer hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009521 MONDO:0020683 False leukemia, acute myelocytic, with polyposis coli and colon cancer acute disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009522 MONDO:0019287 False Leukomelanoderma-infantilism-intellectual disability-hypodontia-hypotrichosis syndrome ectodermal dysplasia syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING -MONDO:0009523 MONDO:0015134 False Lichtenstein syndrome constitutional neutropenia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009524 MONDO:0015159 False intellectual disability-spasticity-ectrodactyly syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009524 MONDO:0018234 False intellectual disability-spasticity-ectrodactyly syndrome dysostosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009524 MONDO:0019054 False intellectual disability-spasticity-ectrodactyly syndrome congenital limb malformation UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009525 MONDO:0015160 False split hand-foot malformation 3 multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009525 MONDO:0016961 False split hand-foot malformation 3 partial duplication of the long arm of chromosome 10 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009526 MONDO:0018234 False fibular aplasia, tibial campomelia, and oligosyndactyly syndrome dysostosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009526 MONDO:0019054 False fibular aplasia, tibial campomelia, and oligosyndactyly syndrome congenital limb malformation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009526 MONDO:0019713 False fibular aplasia, tibial campomelia, and oligosyndactyly syndrome non-syndromic limb reduction defect UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009527 MONDO:0006025 False lipase deficiency, combined autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0009527 MONDO:0018637 False lipase deficiency, combined familial chylomicronemia syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0009528 MONDO:0017774 False chylomicron retention disease hypobetalipoproteinemia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0009529 MONDO:0018424 False pyruvate dehydrogenase E3 deficiency inherited lipoic acid biosynthesis defect UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009529 MONDO:0019169 False pyruvate dehydrogenase E3 deficiency pyruvate dehydrogenase deficiency UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING -MONDO:0009530 MONDO:0002525 False lipoid proteinosis inherited lipid metabolism disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0009530 MONDO:0021154 False lipoid proteinosis dermis disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009530 MONDO:0100118 False lipoid proteinosis hereditary skin disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009532 MONDO:0015146 False Miller-Dieker lissencephaly syndrome classic lissencephaly UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009532 MONDO:0022754 False Miller-Dieker lissencephaly syndrome chromosome 17p deletion UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009533 MONDO:0015161 False Dahlberg-Borer-Newcomer syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009533 MONDO:0019287 False Dahlberg-Borer-Newcomer syndrome ectodermal dysplasia syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0009533 MONDO:0019313 False Dahlberg-Borer-Newcomer syndrome lymphatic malformation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0009534 MONDO:0015279 False chronic mucocutaneous candidiasis due to inhibition of lymphoblastic transformation chronic mucocutaneous candidiasis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0009536 MONDO:0015279 False chronic mucocutaneous candidiasis due to intrinsic defect in lymphoblastic transformation chronic mucocutaneous candidiasis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING @@ -18514,193 +23571,112 @@ MONDO:0009540 MONDO:0015279 False chronic mucocutaneous candidiasis due to lymph MONDO:0009541 MONDO:0003847 False lymphopenic hypergammaglobulinemia, antibody deficiency, autoimmune hemolytic anemia, and glomerulonephritis hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009542 MONDO:0003847 False lysine malabsorption syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009542 MONDO:0020598 False lysine malabsorption syndrome malabsorption syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009543 MONDO:0015159 False prominent glabella-microcephaly-hypogenitalism syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009544 MONDO:0016608 False macrocephaly/megalencephaly syndrome, autosomal recessive megalencephaly UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009545 MONDO:0003847 False macroepiphyseal dysplasia with osteoporosis, wrinkled skin, and aged appearance hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009546 MONDO:0003847 False macrosomia adiposa congenita hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009547 MONDO:0015161 False macrosomia-microphthalmia-cleft palate syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009548 MONDO:0017624 False renal hypomagnesemia 5 with ocular involvement familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009548 MONDO:0020242 False renal hypomagnesemia 5 with ocular involvement hereditary macular dystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009549 MONDO:0019353 False severe early-childhood-onset retinal dystrophy Stargardt disease UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009549 MONDO:0800406 False severe early-childhood-onset retinal dystrophy ABCA4-related retinopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009550 MONDO:0001567 False renal hypomagnesemia 3 nephrocalcinosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0009550 MONDO:0006510 False renal hypomagnesemia 3 renal tubular transport disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0009550 MONDO:0017624 False renal hypomagnesemia 3 familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009551 MONDO:0003847 False magnesium, elevated red cell hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009552 MONDO:0017666 False mal de Meleda diffuse palmoplantar keratoderma UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009555 MONDO:0003847 False malocclusion and short stature hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009556 MONDO:0000688 False malonic aciduria inborn organic aciduria UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009557 MONDO:0021106 False mandibuloacral dysplasia with type A lipodystrophy laminopathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009559 MONDO:0003847 False mandibulofacial dysostosis with mental deficiency hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009560 MONDO:0003847 False oculotrichoanal syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009560 MONDO:0015160 False oculotrichoanal syndrome multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009561 MONDO:0005328 False alpha-mannosidosis eye disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0009561 MONDO:0019251 False alpha-mannosidosis oligosaccharidosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009561 MONDO:0800088 False alpha-mannosidosis lysosomal storage disease with skeletal involvement UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009562 MONDO:0019251 False beta-mannosidosis oligosaccharidosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009562 MONDO:0020127 False beta-mannosidosis hereditary peripheral neuropathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009562 MONDO:0800088 False beta-mannosidosis lysosomal storage disease with skeletal involvement UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009563 MONDO:0000688 False maple syrup urine disease inborn organic aciduria UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0009563 MONDO:0019242 False maple syrup urine disease inborn disorder of branched-chain amino acid metabolism UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009564 MONDO:0005308 False Marden-Walker syndrome ciliopathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009564 MONDO:0015159 False Marden-Walker syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009564 MONDO:0015168 False Marden-Walker syndrome arthrogryposis multiplex congenita UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING -MONDO:0009565 MONDO:0015159 False microcephaly-glomerulonephritis-marfanoid habitus syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009566 MONDO:0015159 False marfanoid habitus-autosomal recessive intellectual disability syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009567 MONDO:0002254 False Marinesco-Sjogren syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0009567 MONDO:0020046 False Marinesco-Sjogren syndrome autosomal recessive degenerative and progressive cerebellar ataxia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009569 MONDO:0015160 False Hennekam-Beemer syndrome multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009570 MONDO:0015159 False McDonough syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009571 MONDO:0800066 False Meckel syndrome, type 1 polydactyly-syndactyly-triphalangism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009572 MONDO:0006025 False autosomal recessive familial Mediterranean fever autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009572 MONDO:0018088 False autosomal recessive familial Mediterranean fever familial Mediterranean fever UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009573 MONDO:0003847 False megaepiphyseal dwarfism hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009574 MONDO:0003847 False megalencephaly with dysmyelination hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009575 MONDO:0006025 False thiamine-responsive megaloblastic anemia syndrome autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0009575 MONDO:0020112 False thiamine-responsive megaloblastic anemia syndrome vitamin B12- and folate-independent constitutional megaloblastic anemia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009576 MONDO:0000942 False megalocornea corneal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0009576 MONDO:0003847 False megalocornea hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0009577 MONDO:0005328 False megalocornea-intellectual disability syndrome eye disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009578 MONDO:0000648 False neurocutaneous melanocytosis nervous system benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009578 MONDO:0005073 False neurocutaneous melanocytosis melanocytic nevus UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009578 MONDO:0042983 False neurocutaneous melanocytosis neurocutaneous syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009578 MONDO:0100118 False neurocutaneous melanocytosis hereditary skin disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009579 MONDO:0002254 False Frank-Ter Haar syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0009579 MONDO:0019690 False Frank-Ter Haar syndrome filamin-related bone disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009581 MONDO:0015159 False intellectual disability-dysmorphism-hypogonadism-diabetes mellitus syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009582 MONDO:0002254 False Mietens syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009582 MONDO:0015160 False Mietens syndrome multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009582 MONDO:0024458 False Mietens syndrome disorder of visual system UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009583 MONDO:0000734 False blepharophimosis - intellectual disability syndrome, Ohdo type Ohdo syndrome and variants UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009584 MONDO:0000508 False intellectual disability, Buenos-Aires type syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009584 MONDO:0002320 False intellectual disability, Buenos-Aires type congenital nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009584 MONDO:0015159 False intellectual disability, Buenos-Aires type multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009585 MONDO:0024237 False encephalopathy due to beta-mercaptolactate-cysteine disulfiduria inherited neurodegenerative disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009586 MONDO:0003847 False mesangial sclerosis, diffuse renal, with ocular abnormalities hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009587 MONDO:0003847 False mesoaxial hexadactyly and cardiac malformation hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009588 MONDO:0018230 False Langer mesomelic dysplasia skeletal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009588 MONDO:0023599 False Langer mesomelic dysplasia mesomelic dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009589 MONDO:0002254 False mesomelic dwarfism-cleft palate-camptodactyly syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009589 MONDO:0015161 False mesomelic dwarfism-cleft palate-camptodactyly syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009589 MONDO:0018230 False mesomelic dwarfism-cleft palate-camptodactyly syndrome skeletal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009590 MONDO:0018868 False metachromatic leukodystrophy due to saposin B deficiency metachromatic leukodystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009590 MONDO:0100517 False metachromatic leukodystrophy due to saposin B deficiency PSAP-related sphingolipidosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009591 MONDO:0018868 False metachromatic leukodystrophy, juvenile form metachromatic leukodystrophy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009592 MONDO:0018230 False metaphyseal acroscyphodysplasia skeletal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009593 MONDO:0040566 False spondylometaphyseal dysplasia, Sedaghatian type inherited glutathione metabolism disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009593 MONDO:0800080 False spondylometaphyseal dysplasia, Sedaghatian type severe spondylodysplastic dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009594 MONDO:0005516 False metaphyseal chondrodysplasia, Kaitila type osteochondrodysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009594 MONDO:0018230 False metaphyseal chondrodysplasia, Kaitila type skeletal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009595 MONDO:0005172 False cartilage-hair hypoplasia skeletal system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009595 MONDO:0006025 False cartilage-hair hypoplasia autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0009595 MONDO:0015708 False cartilage-hair hypoplasia immuno-osseous dysplasia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009595 MONDO:0019287 False cartilage-hair hypoplasia ectodermal dysplasia syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS MONDO:0009596 MONDO:0003847 False metaphyseal chondrodysplasia, Pena type hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009597 MONDO:0005516 False metaphyseal chondrodysplasia, Spahr type osteochondrodysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009597 MONDO:0018230 False metaphyseal chondrodysplasia, Spahr type skeletal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009598 MONDO:0002254 False metaphyseal chondrodysplasia-retinitis pigmentosa syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009598 MONDO:0005516 False metaphyseal chondrodysplasia-retinitis pigmentosa syndrome osteochondrodysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009598 MONDO:0018230 False metaphyseal chondrodysplasia-retinitis pigmentosa syndrome skeletal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009599 MONDO:0002254 False metaphyseal dysostosis-intellectual disability-conductive deafness syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009599 MONDO:0018230 False metaphyseal dysostosis-intellectual disability-conductive deafness syndrome skeletal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009600 MONDO:0003847 False metaphyseal dysplasia, anetoderma, and optic atrophy hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009601 MONDO:0009595 False metaphyseal dysplasia without hypotrichosis cartilage-hair hypoplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0009602 MONDO:0003847 False metaphyseal modeling abnormality, skin lesions, and spastic paraplegia hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009603 MONDO:0019215 False 3-hydroxyisobutyryl-CoA hydrolase deficiency classic organic aciduria UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009603 MONDO:0019242 False 3-hydroxyisobutyryl-CoA hydrolase deficiency inborn disorder of branched-chain amino acid metabolism UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009603 MONDO:0037870 False 3-hydroxyisobutyryl-CoA hydrolase deficiency valine metabolism disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009604 MONDO:0018963 False methemoglobin reductase deficiency hereditary methemoglobinemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009605 MONDO:0018963 False methemoglobinemia type 4 hereditary methemoglobinemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009606 MONDO:0018963 False methemoglobinemia due to deficiency of methemoglobin reductase hereditary methemoglobinemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009607 MONDO:0019222 False methionine adenosyltransferase deficiency inborn disorder of methionine cycle and sulfur amino acid metabolism UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009608 MONDO:0003847 False methionine malabsorption syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009609 MONDO:0018964 False methylcobalamin deficiency type cblG homocystinuria without methylmalonic aciduria UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009612 MONDO:0019215 False methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency classic organic aciduria UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009613 MONDO:0017214 False methylmalonic aciduria, cblA type vitamin B12-responsive methylmalonic acidemia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009614 MONDO:0017214 False methylmalonic aciduria, cblB type vitamin B12-responsive methylmalonic acidemia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009615 MONDO:0002012 False methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency methylmalonic acidemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009616 MONDO:0002254 False microcephalic primordial dwarfism, Toriello type syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009616 MONDO:0800063 False microcephalic primordial dwarfism, Toriello type primordial dwarfism and slender bone disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009617 MONDO:0100200 False microcephaly 1, primary, autosomal recessive microcephaly with intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009618 MONDO:0015159 False microcephaly-cardiomyopathy syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009619 MONDO:0003847 False microcephaly-micromelia syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009620 MONDO:0002254 False Say-Barber-Miller syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009620 MONDO:0003778 False Say-Barber-Miller syndrome inborn error of immunity UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009620 MONDO:0015159 False Say-Barber-Miller syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009621 MONDO:0015159 False microcephaly-cervical spine fusion anomalies syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009622 MONDO:0003847 False Jawad syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009622 MONDO:0015159 False Jawad syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009623 MONDO:0006025 False Nijmegen breakage syndrome autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0009623 MONDO:0015161 False Nijmegen breakage syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009623 MONDO:0015327 False Nijmegen breakage syndrome developmental anomaly of metabolic origin UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009624 MONDO:0002254 False microcephaly and chorioretinopathy 1 syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0009624 MONDO:0019118 False microcephaly and chorioretinopathy 1 inherited retinal dystrophy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0009626 MONDO:0006025 False pseudo-TORCH syndrome autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0009623 MONDO:0021190 False Nijmegen breakage syndrome DNA repair disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009627 MONDO:0006025 False Galloway-Mowat syndrome autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0009632 MONDO:0003847 False microphthalmia with hyperopia, retinal degeneration, macrophakia, and dental anomalies hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009633 MONDO:0100236 False microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma LTBP2-related ocular dysgenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009634 MONDO:0002254 False microtia with meatal atresia and conductive deafness syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009634 MONDO:0003847 False microtia with meatal atresia and conductive deafness hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009635 MONDO:0045032 False microvillus inclusion disease congenital secretory diarrhea UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009636 MONDO:0019236 False mitochondrial DNA depletion syndrome 3 (hepatocerebral type) inborn disorder of purine metabolism UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009636 MONDO:0100512 False mitochondrial DNA depletion syndrome 3 (hepatocerebral type) mitochondrial DNA depletion syndrome, hepatocerebral form UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009637 MONDO:0002921 False inborn mitochondrial myopathy congenital structural myopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0009637 MONDO:0004069 False inborn mitochondrial myopathy inborn mitochondrial metabolism disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0009638 MONDO:0009637 False mitochondrial myopathy with a defect in mitochondrial-protein transport inborn mitochondrial myopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009642 MONDO:0019691 False orofaciodigital syndrome type II short rib dysplasia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009645 MONDO:0015279 False chronic mucocutaneous candidiasis due to monocyte chemotactic disorder chronic mucocutaneous candidiasis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0009647 MONDO:0018938 False Morquio syndrome C mucopolysaccharidosis type 4 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009648 MONDO:0015914 False peripheral motor neuropathy-dysautonomia syndrome primary orthostatic hypotension UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009650 MONDO:0100122 False mucolipidosis type II GNPTAB-mucolipidosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009650 MONDO:0800088 False mucolipidosis type II lysosomal storage disease with skeletal involvement UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009652 MONDO:0031422 False GNPTG-mucolipidosis familial mucolipidosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING -MONDO:0009652 MONDO:0800088 False GNPTG-mucolipidosis lysosomal storage disease with skeletal involvement UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009653 MONDO:0005328 False mucolipidosis type IV eye disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0009653 MONDO:0031422 False mucolipidosis type IV familial mucolipidosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING -MONDO:0009655 MONDO:0800088 False mucopolysaccharidosis type 3A lysosomal storage disease with skeletal involvement UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009656 MONDO:0800088 False mucopolysaccharidosis type 3B lysosomal storage disease with skeletal involvement UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009657 MONDO:0800088 False mucopolysaccharidosis type 3C lysosomal storage disease with skeletal involvement UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009658 MONDO:0800088 False mucopolysaccharidosis type 3D lysosomal storage disease with skeletal involvement UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009659 MONDO:0800088 False mucopolysaccharidosis type 4A lysosomal storage disease with skeletal involvement UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009660 MONDO:0800088 False mucopolysaccharidosis type 4B lysosomal storage disease with skeletal involvement UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009661 MONDO:0002254 False mucopolysaccharidosis type 6 syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0009661 MONDO:0005328 False mucopolysaccharidosis type 6 eye disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0009661 MONDO:0800088 False mucopolysaccharidosis type 6 lysosomal storage disease with skeletal involvement UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009662 MONDO:0800088 False mucopolysaccharidosis type 7 lysosomal storage disease with skeletal involvement UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009663 MONDO:0003847 False mucus inspissation of respiratory tract hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009664 MONDO:0006025 False mulibrey nanism autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0009664 MONDO:0021147 False mulibrey nanism disorder of development or morphogenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009664 MONDO:0100306 False mulibrey nanism disorder of defective peroxisome oxidative status UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009665 MONDO:0015454 False biotinidase deficiency multiple carboxylase deficiency UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0009665 MONDO:0015653 False biotinidase deficiency monogenic epilepsy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009665 MONDO:0020127 False biotinidase deficiency hereditary peripheral neuropathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009665 MONDO:0100033 False biotinidase deficiency metabolic epilepsy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009666 MONDO:0015454 False holocarboxylase synthetase deficiency multiple carboxylase deficiency UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0009666 MONDO:0015653 False holocarboxylase synthetase deficiency monogenic epilepsy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009666 MONDO:0019242 False holocarboxylase synthetase deficiency inborn disorder of branched-chain amino acid metabolism UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009666 MONDO:0100033 False holocarboxylase synthetase deficiency metabolic epilepsy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009667 MONDO:0018939 False muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3 muscle-eye-brain disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009667 MONDO:0700068 False muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3 myopathy caused by variation in POMGNT1 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009668 MONDO:0002254 False lethal multiple pterygium syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009668 MONDO:0015159 False lethal multiple pterygium syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009668 MONDO:0017415 False lethal multiple pterygium syndrome multiple pterygium syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009669 MONDO:0019079 False spinal muscular atrophy, type 1 proximal spinal muscular atrophy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009670 MONDO:0002254 False lethal congenital contracture syndrome 1 syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0009670 MONDO:0015161 False lethal congenital contracture syndrome 1 multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009670 MONDO:0015929 False lethal congenital contracture syndrome 1 thoracic malformation UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009671 MONDO:0019952 False intellectual disability-myopathy-short stature-endocrine defect syndrome congenital myopathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING -MONDO:0009672 MONDO:0019079 False spinal muscular atrophy, type III proximal spinal muscular atrophy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009673 MONDO:0019079 False spinal muscular atrophy, type II proximal spinal muscular atrophy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009674 MONDO:0003847 False muscular dystrophy, adult-onset, with leukoencephalopathy hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009676 MONDO:0016145 False autosomal recessive limb-girdle muscular dystrophy type 2B qualitative or quantitative defects of dysferlin UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009677 MONDO:0016143 False autosomal recessive limb-girdle muscular dystrophy type 2C qualitative or quantitative defects of gamma-sarcoglycan UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009677 MONDO:0016333 False autosomal recessive limb-girdle muscular dystrophy type 2C familial dilated cardiomyopathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0009678 MONDO:0018939 False muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 muscle-eye-brain disease UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009678 MONDO:0700067 False muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 myopathy caused by variation in FKTN UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009679 MONDO:0015168 False arthrogryposis due to muscular dystrophy arthrogryposis multiplex congenita UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009679 MONDO:0019950 False arthrogryposis due to muscular dystrophy congenital muscular dystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009680 MONDO:0019950 False congenital muscular dystrophy-infantile cataract-hypogonadism syndrome congenital muscular dystrophy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009681 MONDO:0100225 False Ullrich congenital muscular dystrophy 1 collagen 6-related myopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009682 MONDO:0019950 False muscular dystrophy, congenital, with rapid progression congenital muscular dystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009683 MONDO:0016153 False autosomal recessive limb-girdle muscular dystrophy type 2H qualitative or quantitative defects of TRIM32 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009684 MONDO:0003847 False muscular hypertonia, lethal hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009685 MONDO:0018949 False Miyoshi myopathy distal myopathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS MONDO:0009686 MONDO:0003847 False musk, inability to smell hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009687 MONDO:0002320 False myasthenia, congenital, refractory to acetylcholinesterase inhibitors congenital nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009687 MONDO:0018940 False myasthenia, congenital, refractory to acetylcholinesterase inhibitors congenital myasthenic syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING @@ -18708,18 +23684,12 @@ MONDO:0009688 MONDO:0000590 False myasthenia gravis autoimmune disorder of perip MONDO:0009689 MONDO:0002320 False congenital myasthenic syndrome 6 congenital nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0009690 MONDO:0019950 False congenital myasthenic syndrome 10 congenital muscular dystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0009690 MONDO:0020344 False congenital myasthenic syndrome 10 postsynaptic congenital myasthenic syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009691 MONDO:0015821 False mycosis fungoides mycosis fungoides and variants UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009692 MONDO:0015610 False primary myelofibrosis acquired aplastic anemia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009693 MONDO:0000621 False plasma cell myeloma immune system cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0009693 MONDO:0005170 False plasma cell myeloma myeloid neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0009694 MONDO:0003847 False myeloperoxidase deficiency hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009694 MONDO:0015978 False myeloperoxidase deficiency functional neutrophil defect UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009694 MONDO:0024626 False myeloperoxidase deficiency defective phagocytic cell engulfment UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009695 MONDO:0020076 False myeloproliferative disease, autosomal recessive myeloproliferative neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009696 MONDO:0000414 False juvenile myoclonic epilepsy childhood electroclinical syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0009696 MONDO:0000415 False juvenile myoclonic epilepsy adolescence-adult electroclinical syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0009696 MONDO:0005395 False juvenile myoclonic epilepsy movement disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0009696 MONDO:0017704 False juvenile myoclonic epilepsy familial partial epilepsy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009696 MONDO:0100030 False juvenile myoclonic epilepsy adolescent/adult-onset epilepsy syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009697 MONDO:0002412 False Lafora disease disorder of glycogen metabolism UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS MONDO:0009697 MONDO:0005395 False Lafora disease movement disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS @@ -18728,21 +23698,15 @@ MONDO:0009701 MONDO:0003847 False myopathy, granulovacuolar lobular, with electr MONDO:0009702 MONDO:0003847 False myopathy due to malate-aspartate shuttle defect hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009703 MONDO:0005336 False myopathy with abnormal lipid metabolism myopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009703 MONDO:0700223 False myopathy with abnormal lipid metabolism hereditary skeletal muscle disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009704 MONDO:0015515 False carnitine palmitoyl transferase II deficiency, myopathic form carnitine palmitoyltransferase II deficiency UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009705 MONDO:0017716 False carnitine palmitoyl transferase 1A deficiency disorder of carnitine cycle and carnitine transport UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009706 MONDO:0020123 False hereditary myopathy with lactic acidosis due to ISCU deficiency metabolic myopathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009705 MONDO:0037858 False carnitine palmitoyl transferase 1A deficiency inherited fatty acid metabolism disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009706 MONDO:0044970 False hereditary myopathy with lactic acidosis due to ISCU deficiency mitochondrial disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009706 MONDO:0700223 False hereditary myopathy with lactic acidosis due to ISCU deficiency hereditary skeletal muscle disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009707 MONDO:0003847 False myopathy with giant abnormal mitochondria hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009708 MONDO:0019952 False myopathy, myosin storage, autosomal recessive congenital myopathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS -MONDO:0009709 MONDO:0015705 False myopathy, centronuclear, 2 autosomal recessive centronuclear myopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0009710 MONDO:0019119 False Thomsen and Becker disease muscular channelopathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009711 MONDO:0002921 False congenital fiber-type disproportion myopathy congenital structural myopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0009711 MONDO:0100108 False congenital fiber-type disproportion myopathy TPM3-related myopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009711 MONDO:0100150 False congenital fiber-type disproportion myopathy RYR1-related myopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009711 MONDO:0100196 False congenital fiber-type disproportion myopathy TPM2-related myopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009712 MONDO:0002320 False congenital multicore myopathy with external ophthalmoplegia congenital nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009712 MONDO:0018948 False congenital multicore myopathy with external ophthalmoplegia multiminicore myopathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009712 MONDO:0100150 False congenital multicore myopathy with external ophthalmoplegia RYR1-related myopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009714 MONDO:0100225 False myosclerosis collagen 6-related myopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009714 MONDO:0700223 False myosclerosis hereditary skeletal muscle disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -18750,54 +23714,34 @@ MONDO:0009715 MONDO:0006025 False myotonia congenita, autosomal recessive autoso MONDO:0009715 MONDO:0009710 False myotonia congenita, autosomal recessive Thomsen and Becker disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009716 MONDO:0015161 False Richieri Costa-da Silva syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009716 MONDO:0016761 False Richieri Costa-da Silva syndrome spondyloepiphyseal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009717 MONDO:0002254 False Schwartz-Jampel syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009717 MONDO:0006025 False Schwartz-Jampel syndrome autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009717 MONDO:0016151 False Schwartz-Jampel syndrome qualitative or quantitative defects of perlecan UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009717 MONDO:0016761 False Schwartz-Jampel syndrome spondyloepiphyseal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009719 MONDO:0003847 False familial atrial myxoma hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009719 MONDO:0021209 False familial atrial myxoma heart neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009720 MONDO:0015161 False Keipert syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009721 MONDO:0002254 False Nathalie syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009722 MONDO:0002320 False Bailey-Bloch congenital myopathy congenital nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0009722 MONDO:0019952 False Bailey-Bloch congenital myopathy congenital myopathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS -MONDO:0009723 MONDO:0016387 False Leigh syndrome mitochondrial oxidative phosphorylation disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009723 MONDO:0020127 False Leigh syndrome hereditary peripheral neuropathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009724 MONDO:0005240 False nail-patella-like renal disease kidney disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009725 MONDO:0015735 False nemaline myopathy 2 severe congenital nemaline myopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009725 MONDO:0015736 False nemaline myopathy 2 intermediate nemaline myopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009725 MONDO:0015737 False nemaline myopathy 2 typical nemaline myopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009725 MONDO:0015738 False nemaline myopathy 2 childhood-onset nemaline myopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009726 MONDO:0005046 False proteosome-associated autoinflammatory syndrome immune system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0009726 MONDO:0006025 False proteosome-associated autoinflammatory syndrome autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0009726 MONDO:0019751 False proteosome-associated autoinflammatory syndrome autoinflammatory syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009726 MONDO:0023603 False proteosome-associated autoinflammatory syndrome hereditary disorder of connective tissue UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009727 MONDO:0000226 False atelosteogenesis type II mineral metabolism disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009727 MONDO:0019052 False atelosteogenesis type II inborn errors of metabolism UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009728 MONDO:0002254 False nephronophthisis 1 syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0009728 MONDO:0005308 False nephronophthisis 1 ciliopathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0009729 MONDO:0002254 False nephropathy - deafness - hyperparathyroidism syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009729 MONDO:0003847 False nephropathy - deafness - hyperparathyroidism syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009731 MONDO:0002254 False nephrosis-deafness-urinary tract-digital malformations syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009731 MONDO:0015161 False nephrosis-deafness-urinary tract-digital malformations syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009735 MONDO:0002254 False Netherton syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0009735 MONDO:0005328 False Netherton syndrome eye disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0009735 MONDO:0006025 False Netherton syndrome autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0009735 MONDO:0015947 False Netherton syndrome inherited ichthyosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009735 MONDO:0018037 False Netherton syndrome hyper-IgE syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS MONDO:0009737 MONDO:0005328 False galactosialidosis eye disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0009737 MONDO:0019251 False galactosialidosis oligosaccharidosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009737 MONDO:0800088 False galactosialidosis lysosomal storage disease with skeletal involvement UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009738 MONDO:0017734 False sialidosis type 2 sialidosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009738 MONDO:0031422 False sialidosis type 2 familial mucolipidosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING -MONDO:0009738 MONDO:0800088 False sialidosis type 2 lysosomal storage disease with skeletal involvement UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009740 MONDO:0015159 False neurofaciodigitorenal syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009741 MONDO:0015356 False neuroblastoma, susceptibility to, 1 hereditary neoplastic syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009742 MONDO:0003847 False neuroectodermal melanolysosomal disease hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009743 MONDO:0003847 False neurologic disease, infantile multisystem, with osseous fragility hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009745 MONDO:0015674 False neuronal ceroid lipofuscinosis 5 late infantile neuronal ceroid lipofuscinosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009747 MONDO:0100512 False mitochondrial DNA depletion syndrome 6 (hepatocerebral type) mitochondrial DNA depletion syndrome, hepatocerebral form UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009748 MONDO:0015150 False hereditary sensory and autonomic neuropathy with spastic paraplegia complex hereditary spastic paraplegia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009748 MONDO:0020127 False hereditary sensory and autonomic neuropathy with spastic paraplegia hereditary peripheral neuropathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009750 MONDO:0003847 False neuropathy, hereditary motor and sensory, with excessive myelin folding complex, autosomal recessive hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009751 MONDO:0015364 False neuropathy, hereditary sensory, atypical hereditary sensory and autonomic neuropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS MONDO:0009752 MONDO:0003847 False neuropathy, painful hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009754 MONDO:0008742 False neutropenia, lethal congenital, with eosinophilia autosomal dominant severe congenital neutropenia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009755 MONDO:0100118 False neutrophil actin dysfunction hereditary skin disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -18808,30 +23752,20 @@ MONDO:0009757 MONDO:0018982 False Niemann-Pick disease, type C1 Niemann-Pick dis MONDO:0009758 MONDO:0002320 False congenital stationary night blindness 1B congenital nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0009758 MONDO:0800397 False congenital stationary night blindness 1B GRM6-related retinopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009760 MONDO:0002254 False Norman-Roberts syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0009760 MONDO:0015204 False Norman-Roberts syndrome microlissencephaly UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0009760 MONDO:0019313 False Norman-Roberts syndrome lymphatic malformation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS MONDO:0009760 MONDO:0043218 False Norman-Roberts syndrome neurovascular disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009763 MONDO:0003847 False obesity-hypoventilation syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009764 MONDO:0005328 False ocular motor apraxia, Cogan type eye disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0009765 MONDO:0003847 False ocular myopathy with curare sensitivity hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009766 MONDO:0003847 False oculocerebral hypopigmentation syndrome of Preus hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009767 MONDO:0017305 False oculocerebral hypopigmentation syndrome, Cross type syndromic oculocutaneous albinism UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009767 MONDO:0021147 False oculocerebral hypopigmentation syndrome, Cross type disorder of development or morphogenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009768 MONDO:0006025 False oculodentodigital dysplasia, autosomal recessive autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009768 MONDO:0008111 False oculodentodigital dysplasia, autosomal recessive oculodentodigital dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING -MONDO:0009769 MONDO:0015159 False oculo-palato-cerebral syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009771 MONDO:0019287 False oculotrichodysplasia ectodermal dysplasia syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0009772 MONDO:0003847 False oculorenocerebellar syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009773 MONDO:0006025 False odonto-onycho-dermal dysplasia autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009773 MONDO:0017666 False odonto-onycho-dermal dysplasia diffuse palmoplantar keratoderma UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009773 MONDO:0100358 False odonto-onycho-dermal dysplasia ectodermal dysplasia WNT10A related UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009774 MONDO:0002254 False cloacal exstrophy syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0009774 MONDO:0017919 False cloacal exstrophy exstrophy-epispadias complex UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0009775 MONDO:0019152 False Oguchi disease-1 Oguchi disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009777 MONDO:0015159 False Oliver syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009778 MONDO:0003847 False olivopontocerebellar atrophy II, autosomal recessive hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009779 MONDO:0006025 False autosomal recessive omodysplasia autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0009780 MONDO:0015159 False lethal omphalocele-cleft palate syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009781 MONDO:0003847 False Onychotrichodysplasia and neutropenia hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009782 MONDO:0003847 False ophthalmoplegia totalis with ptosis and miosis hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009783 MONDO:0016810 False progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1 autosomal recessive progressive external ophthalmoplegia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -18842,17 +23776,8 @@ MONDO:0009789 MONDO:0020573 False nonarteritic anterior ischemic optic neuropath MONDO:0009790 MONDO:0003847 False Opticocochleodentate degeneration hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009791 MONDO:0003847 False oral sensibility, disturbance of hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009792 MONDO:0002254 False ichthyosis-oral and digital anomalies syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009792 MONDO:0015161 False ichthyosis-oral and digital anomalies syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009792 MONDO:0015947 False ichthyosis-oral and digital anomalies syndrome inherited ichthyosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009794 MONDO:0015929 False orofaciodigital syndrome IV thoracic malformation UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009794 MONDO:0019691 False orofaciodigital syndrome IV short rib dysplasia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009796 MONDO:0001898 False ornithine aminotransferase deficiency optic choroid disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0009796 MONDO:0017356 False ornithine aminotransferase deficiency inborn disorder of ornithine metabolism UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009796 MONDO:0019118 False ornithine aminotransferase deficiency inherited retinal dystrophy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0009796 MONDO:0020127 False ornithine aminotransferase deficiency hereditary peripheral neuropathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009796 MONDO:0043218 False ornithine aminotransferase deficiency neurovascular disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009797 MONDO:0019238 False orotic aciduria inborn disorder of pyrimidine metabolism UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0009797 MONDO:0020112 False orotic aciduria vitamin B12- and folate-independent constitutional megaloblastic anemia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009798 MONDO:0002254 False Primrose syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009798 MONDO:0003847 False Primrose syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009800 MONDO:0017194 False Blount disease, adolescent Blount disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -18864,20 +23789,15 @@ MONDO:0009803 MONDO:0003847 False congenital osteogenesis imperfecta-microcephal MONDO:0009804 MONDO:0800064 False osteogenesis imperfecta type 3 osteogenesis imperfecta and a reduction of bone mineral density. UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009805 MONDO:0800064 False osteogenesis imperfecta type 9 osteogenesis imperfecta and a reduction of bone mineral density. UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009806 MONDO:0017195 False Bruck syndrome 1 Bruck syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009809 MONDO:0002254 False multicentric osteolysis, nodulosis, and arthropathy syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009809 MONDO:0018298 False multicentric osteolysis, nodulosis, and arthropathy multicentric osteolysis-nodulosis-arthropathy spectrum UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009810 MONDO:0019707 False autosomal recessive distal osteolysis syndrome primary osteolysis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009811 MONDO:0003847 False osteoma of middle ear hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009813 MONDO:0019751 False chronic recurrent multifocal osteomyelitis autoinflammatory syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009814 MONDO:0002254 False osteopenia-intellectual disability-sparse hair syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009817 MONDO:0010866 False autosomal recessive osteopetrosis 5 infantile osteopetrosis with neuroaxonal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS -MONDO:0009820 MONDO:0006025 False osteoporosis-pseudoglioma syndrome autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0009820 MONDO:0020247 False osteoporosis-pseudoglioma syndrome congenital vitreoretinal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009820 MONDO:0700228 False osteoporosis-pseudoglioma syndrome LRP5-related exudative vitreoretinopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009820 MONDO:0800064 False osteoporosis-pseudoglioma syndrome osteogenesis imperfecta and a reduction of bone mineral density. UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009821 MONDO:0019702 False lethal osteosclerotic bone dysplasia neonatal osteosclerotic dysplasia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009822 MONDO:0003847 False otoonychoperoneal syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009822 MONDO:0015161 False otoonychoperoneal syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009822 MONDO:0018234 False otoonychoperoneal syndrome dysostosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009823 MONDO:0100278 False primary hyperoxaluria type 1 alanine glyoxylate aminotransferase deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009825 MONDO:0040566 False 5-oxoprolinase deficiency inherited glutathione metabolism disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009826 MONDO:0003847 False PA polymorphism of alpha-2-globulin hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -18885,148 +23805,87 @@ MONDO:0009828 MONDO:0003847 False palant cleft palate syndrome hereditary diseas MONDO:0009832 MONDO:0003847 False pancreatic agenesis hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0009832 MONDO:0021147 False pancreatic agenesis disorder of development or morphogenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009833 MONDO:0006025 False Shwachman-Diamond syndrome autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0009835 MONDO:0006009 False subacute sclerosing panencephalitis viral encephalitis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0009836 MONDO:0003847 False pancreatitis, sclerosing cholangitis, and sicca complex hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009837 MONDO:0003847 False choroid plexus papilloma hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0009839 MONDO:0020488 False progressive supranuclear palsy-parkinsonism syndrome atypical progressive supranuclear palsy syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009839 MONDO:0024237 False progressive supranuclear palsy-parkinsonism syndrome inherited neurodegenerative disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009838 MONDO:0002254 False Parana hard-skin syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009838 MONDO:0005093 False Parana hard-skin syndrome skin disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009840 MONDO:0003847 False Partington-Anderson syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009841 MONDO:0002254 False PEHO syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0009841 MONDO:0024237 False PEHO syndrome inherited neurodegenerative disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009842 MONDO:0019751 False Pelger-Huet-like anomaly and episodic fever with abdominal pain autoinflammatory syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009842 MONDO:0023603 False Pelger-Huet-like anomaly and episodic fever with abdominal pain hereditary disorder of connective tissue UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009843 MONDO:0017226 False hypomyelinating leukodystrophy 3 Pelizaeus-Merzbacher-like disease UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009844 MONDO:0003847 False pellagra-like syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009845 MONDO:0018234 False pelviscapular dysplasia dysostosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009845 MONDO:0019054 False pelviscapular dysplasia congenital limb malformation UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009845 MONDO:0019713 False pelviscapular dysplasia non-syndromic limb reduction defect UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009846 MONDO:0019231 False pentosuria inborn disorder of pentose phosphate metabolism UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009847 MONDO:0001370 False pericardial effusion, chronic pericardial effusion UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009847 MONDO:0003847 False pericardial effusion, chronic hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009848 MONDO:0019296 False dissecting cellulitis of the scalp subcutaneous tissue disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009849 MONDO:0005046 False hyperimmunoglobulinemia D with periodic fever immune system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009849 MONDO:0017708 False hyperimmunoglobulinemia D with periodic fever mevalonate kinase deficiency UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009850 MONDO:0003847 False periodontitis, chronic, adult hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009850 MONDO:0005593 False periodontitis, chronic, adult chronic periodontitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009851 MONDO:0003847 False peripheral neuropathy, ataxia, focal necrotizing encephalopathy, and spongy degeneration of brain hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009852 MONDO:0000424 False hereditary intrinsic factor deficiency inborn vitamin B12 deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0009852 MONDO:0016624 False hereditary intrinsic factor deficiency inherited deficiency anemia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009852 MONDO:0019220 False hereditary intrinsic factor deficiency inborn disorder of cobalamin metabolism and transport UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009853 MONDO:0001700 False Imerslund-Grasbeck syndrome megaloblastic anemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009853 MONDO:0002254 False Imerslund-Grasbeck syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009853 MONDO:0016624 False Imerslund-Grasbeck syndrome inherited deficiency anemia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009853 MONDO:0019220 False Imerslund-Grasbeck syndrome inborn disorder of cobalamin metabolism and transport UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009854 MONDO:0003847 False peroneus tertius muscle, absence of hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009855 MONDO:0019233 False d-bifunctional protein deficiency disorder of peroxisomal beta oxidation UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009856 MONDO:0005267 False Peters plus syndrome heart disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0009856 MONDO:0005328 False Peters plus syndrome eye disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0009856 MONDO:0015159 False Peters plus syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009856 MONDO:0015327 False Peters plus syndrome developmental anomaly of metabolic origin UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009856 MONDO:0017747 False Peters plus syndrome disorder of fucoglycosan synthesis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009857 MONDO:0005518 False persistent Mullerian duct syndrome pseudohermaphroditism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0009858 MONDO:0015159 False Pfeiffer-Palm-Teller syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009859 MONDO:0015161 False PHAVER syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009860 MONDO:0003847 False phenformin 4-hydroxylation hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009861 MONDO:0006025 False phenylketonuria autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0009861 MONDO:0017306 False phenylketonuria disorder of phenylalanine metabolism UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009862 MONDO:0016543 False dihydropteridine reductase deficiency hyperphenylalaninemia due to tetrahydrobiopterin deficiency UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009862 MONDO:0045014 False dihydropteridine reductase deficiency tetrahydrobiopterin metabolic process disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009863 MONDO:0016543 False BH4-deficient hyperphenylalaninemia A hyperphenylalaninemia due to tetrahydrobiopterin deficiency UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009864 MONDO:0017320 False phosphoenolpyruvate carboxykinase deficiency, mitochondrial phosphoenolpyruvate carboxykinase deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009865 MONDO:0017688 False glycogen storage disease due to phosphoglycerate mutase deficiency disorder of glycolysis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009866 MONDO:0017320 False phosphoenolpyruvate carboxykinase deficiency, cytosolic phosphoenolpyruvate carboxykinase deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009867 MONDO:0002412 False lethal congenital glycogen storage disease of heart disorder of glycogen metabolism UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS MONDO:0009867 MONDO:0800484 False lethal congenital glycogen storage disease of heart PRKAG2-related cardiomyopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009868 MONDO:0002412 False glycogen storage disease IXb disorder of glycogen metabolism UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS MONDO:0009869 MONDO:0005328 False isolated Pierre-Robin syndrome eye disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009870 MONDO:0019278 False pili torti hair anomaly UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009871 MONDO:0002254 False pili torti-developmental delay-neurological abnormalities syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009872 MONDO:0006025 False Bjornstad syndrome autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0009872 MONDO:0044970 False Bjornstad syndrome mitochondrial disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009873 MONDO:0019287 False pilodental dysplasia-refractive errors syndrome ectodermal dysplasia syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0009874 MONDO:0002254 False Rabson-Mendenhall syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009874 MONDO:0003847 False Rabson-Mendenhall syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009874 MONDO:0019280 False Rabson-Mendenhall syndrome hypertrichosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009875 MONDO:0018852 False achromatopsia 3 achromatopsia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0009875 MONDO:0100446 False achromatopsia 3 CNGB3-related retinopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009877 MONDO:0006025 False Laron syndrome autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0009877 MONDO:0015892 False Laron syndrome growth hormone insensitivity syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009878 MONDO:0019591 False pituitary hormone deficiency, combined, 2 panhypopituitarism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009879 MONDO:0000050 False short stature due to growth hormone qualitative anomaly isolated congenital growth hormone deficiency UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING -MONDO:0009880 MONDO:0018762 False short stature-pituitary and cerebellar defects-small sella turcica syndrome non-acquired combined pituitary hormone deficiency UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009881 MONDO:0003847 False pituitary dwarfism with large sella turcica hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009882 MONDO:0003847 False plasma clot retraction factor, deficiency of hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009883 MONDO:0002242 False alpha-2-plasmin inhibitor deficiency coagulation protein disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009883 MONDO:0002243 False alpha-2-plasmin inhibitor deficiency hemorrhagic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0009883 MONDO:0021181 False alpha-2-plasmin inhibitor deficiency inherited blood coagulation disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009884 MONDO:0003847 False platelet prostacyclin receptor defect hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009885 MONDO:0021181 False Scott syndrome inherited blood coagulation disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009886 MONDO:0003847 False pleoconial myopathy with salt craving hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009888 MONDO:0003847 False polycystic kidney, cataract, and congenital blindness hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009889 MONDO:0006025 False autosomal recessive polycystic kidney disease autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0009890 MONDO:0012117 False Gillessen-Kaesbach-Nishimura syndrome ALG9-congenital disorder of glycosylation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING -MONDO:0009892 MONDO:0016540 False Chuvash polycythemia congenital secondary polycythemia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009893 MONDO:0019673 False polydactyly, postaxial, type A5 postaxial polydactyly type A UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009894 MONDO:0019662 False short-rib thoracic dysplasia 6 with or without polydactyly short rib-polydactyly syndrome, Majewski type UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009895 MONDO:0021147 False postaxial polydactyly-dental and vertebral anomalies syndrome disorder of development or morphogenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009896 MONDO:0003847 False polymyoclonus, infantile hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009897 MONDO:0009292 False adult polyglucosan body disease glycogen storage disease due to glycogen branching enzyme deficiency UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING -MONDO:0009897 MONDO:0020127 False adult polyglucosan body disease hereditary peripheral neuropathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009898 MONDO:0003847 False polysaccharide, storage of unusual hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009899 MONDO:0003847 False polyhydramnios, chronic idiopathic hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009899 MONDO:0700007 False polyhydramnios, chronic idiopathic idiopathic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009900 MONDO:0015161 False polysyndactyly-cardiac malformation syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009901 MONDO:0017435 False Bartsocas-Papas syndrome 1 popliteal pterygium syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009901 MONDO:0019287 False Bartsocas-Papas syndrome 1 ectodermal dysplasia syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING -MONDO:0009901 MONDO:0043009 False Bartsocas-Papas syndrome 1 hereditary lethal multiple congenital anomalies/dysmorphic syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009902 MONDO:0003689 False cutaneous porphyria familial hemolytic anemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0009902 MONDO:0020585 False cutaneous porphyria anemia due to erythrocyte enzyme disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009903 MONDO:0002254 False postaxial acrofacial dysostosis syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0009903 MONDO:0015161 False postaxial acrofacial dysostosis multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009903 MONDO:0018237 False postaxial acrofacial dysostosis acrofacial dysostosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0009904 MONDO:0006510 False Gitelman syndrome renal tubular transport disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0009904 MONDO:0015962 False Gitelman syndrome inherited renal tubular disease UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009905 MONDO:0015159 False urban-Rogers-Meyer syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009904 MONDO:0002254 False Gitelman syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0009906 MONDO:0008882 False prenatal bowing congenital bowing of long bones UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0009907 MONDO:0003847 False Prepapillary vascular loops hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009908 MONDO:0016543 False pterin-4 alpha-carbinolamine dehydratase 1 deficiency hyperphenylalaninemia due to tetrahydrobiopterin deficiency UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009909 MONDO:0003847 False progesterone resistance hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009910 MONDO:0002254 False Wiedemann-Rautenstrauch syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0009910 MONDO:0015159 False Wiedemann-Rautenstrauch syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009910 MONDO:0015327 False Wiedemann-Rautenstrauch syndrome developmental anomaly of metabolic origin UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009910 MONDO:0020087 False Wiedemann-Rautenstrauch syndrome hereditary lipodystrophy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009910 MONDO:0800064 False Wiedemann-Rautenstrauch syndrome osteogenesis imperfecta and a reduction of bone mineral density. UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009911 MONDO:0003847 False prolactin deficiency, isolated hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009912 MONDO:0003847 False prolactin deficiency with obesity and enlarged testes hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009913 MONDO:0003847 False prune belly syndrome with pulmonic stenosis, intellectual disability, and deafness hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009914 MONDO:0018230 False pseudodiastrophic dysplasia skeletal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009914 MONDO:0019755 False pseudodiastrophic dysplasia developmental defect during embryogenesis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009915 MONDO:0017576 False 46,XX disorder of sex development-skeletal anomalies syndrome 46,XX disorder of sex development UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009916 MONDO:0003847 False 46,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0009916 MONDO:0020040 False 46,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency 46,XY disorder of sex development UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009917 MONDO:0019161 False autosomal recessive pseudohypoaldosteronism type 1 pseudohypoaldosteronism type 1 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009918 MONDO:0007640 False fundus dystrophy, pseudoinflammatory, recessive form Sorsby fundus dystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING -MONDO:0009919 MONDO:0019233 False peroxisomal acyl-CoA oxidase deficiency disorder of peroxisomal beta oxidation UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009920 MONDO:0002254 False Acrootoocular syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009921 MONDO:0015159 False holoprosencephaly-postaxial polydactyly syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009921 MONDO:0002254 False holoprosencephaly-postaxial polydactyly syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009922 MONDO:0003847 False Pseudouridinuria and mental defect hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009923 MONDO:0002525 False 46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency inherited lipid metabolism disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009923 MONDO:0015327 False 46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency developmental anomaly of metabolic origin UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009923 MONDO:0020040 False 46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency 46,XY disorder of sex development UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009924 MONDO:0017323 False vitamin D-dependent rickets, type 1 hypocalcemic rickets UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009924 MONDO:0024299 False vitamin D-dependent rickets, type 1 vitamin D-dependent rickets UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009925 MONDO:0006025 False autosomal recessive inherited pseudoxanthoma elasticum autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0009925 MONDO:0023603 False autosomal recessive inherited pseudoxanthoma elasticum hereditary disorder of connective tissue UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009925 MONDO:0100091 False autosomal recessive inherited pseudoxanthoma elasticum inherited pseudoxanthoma elasticum UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009926 MONDO:0002254 False autosomal recessive multiple pterygium syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009926 MONDO:0006025 False autosomal recessive multiple pterygium syndrome autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009926 MONDO:0015161 False autosomal recessive multiple pterygium syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009926 MONDO:0017415 False autosomal recessive multiple pterygium syndrome multiple pterygium syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009928 MONDO:0003847 False pulmonary alveolar microlithiasis hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0009928 MONDO:0005275 False pulmonary alveolar microlithiasis lung disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0009929 MONDO:0020683 False neonatal acute respiratory distress due to SP-B deficiency acute disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009931 MONDO:0003847 False pulmonary atresia-intact ventricular septum syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009931 MONDO:0020291 False pulmonary atresia-intact ventricular septum syndrome hypoplastic right heart syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009932 MONDO:0003847 False pulmonary bullae causing pneumothorax hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009933 MONDO:0005087 False congenital pulmonary lymphangiectasia respiratory system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009933 MONDO:0006840 False congenital pulmonary lymphangiectasia lymphangiectasis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009933 MONDO:0019175 False congenital pulmonary lymphangiectasia primary lymphedema UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009934 MONDO:0003847 False alveolar capillary dysplasia with misalignment of pulmonary veins hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0009934 MONDO:0017015 False alveolar capillary dysplasia with misalignment of pulmonary veins primary interstitial lung disease specific to childhood UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009934 MONDO:0020295 False alveolar capillary dysplasia with misalignment of pulmonary veins congenital pulmonary veins anomaly UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009935 MONDO:0001999 False pulmonary hypertension, primary, autosomal recessive primary pulmonary hypertension UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009936 MONDO:0005087 False familial primary pulmonary hypoplasia respiratory system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -19036,575 +23895,338 @@ MONDO:0009937 MONDO:0005275 False pulmonary venoocclusive disease lung disorder MONDO:0009938 MONDO:0003847 False pulmonic stenosis hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009938 MONDO:0017865 False pulmonic stenosis congenital pulmonary valve stenosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009939 MONDO:0003847 False pulmonic stenosis and congenital nephrosis hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009940 MONDO:0002561 False pycnodysostosis lysosomal storage disease UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0009940 MONDO:0005516 False pycnodysostosis osteochondrodysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0009940 MONDO:0017198 False pycnodysostosis osteopetrosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0009941 MONDO:0003847 False Pygmy hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009942 MONDO:0005516 False pyknoachondrogenesis osteochondrodysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009942 MONDO:0018230 False pyknoachondrogenesis skeletal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009943 MONDO:0005516 False Pyle disease osteochondrodysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0009943 MONDO:0018230 False Pyle disease skeletal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009944 MONDO:0003847 False pyloric atresia hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009945 MONDO:0015653 False pyridoxine-dependent epilepsy monogenic epilepsy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009945 MONDO:0019237 False pyridoxine-dependent epilepsy inborn disorder of pyridoxine metabolism UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009945 MONDO:0100033 False pyridoxine-dependent epilepsy metabolic epilepsy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009946 MONDO:0003689 False hemolytic anemia due to pyrimidine 5' nucleotidase deficiency familial hemolytic anemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009946 MONDO:0019238 False hemolytic anemia due to pyrimidine 5' nucleotidase deficiency inborn disorder of pyrimidine metabolism UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009947 MONDO:0017909 False glutathione synthetase deficiency with 5-oxoprolinuria inherited glutathione synthetase deficiency UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0009948 MONDO:0003847 False pyropoikilocytosis, hereditary hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009949 MONDO:0019225 False pyruvate carboxylase deficiency disease disorder of gluconeogenesis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009950 MONDO:0006506 False pyruvate kinase deficiency of red cells congenital nonspherocytic hemolytic anemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0009950 MONDO:0017688 False pyruvate kinase deficiency of red cells disorder of glycolysis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009950 MONDO:0020585 False pyruvate kinase deficiency of red cells anemia due to erythrocyte enzyme disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009951 MONDO:0003847 False radiculoneuropathy, fatal neonatal hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009952 MONDO:0002320 False radioulnar synostosis-developmental delay-hypotonia syndrome congenital nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009952 MONDO:0005287 False radioulnar synostosis-developmental delay-hypotonia syndrome developmental disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009952 MONDO:0015159 False radioulnar synostosis-developmental delay-hypotonia syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009952 MONDO:0017985 False radioulnar synostosis-developmental delay-hypotonia syndrome congenital radioulnar synostosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009952 MONDO:0019054 False radioulnar synostosis-developmental delay-hypotonia syndrome congenital limb malformation UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009953 MONDO:0009332 False leukocyte adhesion deficiency type II congenital hematological disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009953 MONDO:0017749 False leukocyte adhesion deficiency type II disorder of multiple glycosylation UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009954 MONDO:0002081 False Ramon syndrome musculoskeletal system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009954 MONDO:0003847 False Ramon syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009955 MONDO:0006025 False rapadilino syndrome autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0009955 MONDO:0015161 False rapadilino syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009955 MONDO:0018234 False rapadilino syndrome dysostosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0009955 MONDO:0019054 False rapadilino syndrome congenital limb malformation UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009955 MONDO:0019713 False rapadilino syndrome non-syndromic limb reduction defect UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009956 MONDO:0003847 False red skin pigment anomaly of new guinea hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009957 MONDO:0003847 False Reese retinal dysplasia hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009958 MONDO:0100258 False adult Refsum disease phytanoyl-CoA hydroxylase deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009959 MONDO:0100266 False peroxisome biogenesis disorder type 3B peroxisome biogenesis disorder due to PEX12 defect UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009961 MONDO:0003847 False renal and mullerian duct hypoplasia hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009963 MONDO:0015159 False Ulbright-Hodes syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009964 MONDO:0019695 False short-rib thoracic dysplasia 9 with or without polydactyly acromelic dysplasia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009964 MONDO:0100509 False short-rib thoracic dysplasia 9 with or without polydactyly IFT140-related recessive ciliopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009965 MONDO:0003847 False Perlman syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0009965 MONDO:0019716 False Perlman syndrome overgrowth syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009966 MONDO:0020022 False NPHP3-related Meckel-like syndrome central nervous system malformation UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009967 MONDO:0001909 False renal tubular acidosis 3 renal tubular acidosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009968 MONDO:0018440 False renal tubular acidosis, distal, 2, with progressive sensorineural hearing loss autosomal recessive distal renal tubular acidosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009969 MONDO:0015161 False renal-genital-middle ear anomalies multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009970 MONDO:0017609 False renal tubular dysgenesis of genetic origin renal tubular dysgenesis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009970 MONDO:0021147 False renal tubular dysgenesis of genetic origin disorder of development or morphogenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009970 MONDO:0100191 False renal tubular dysgenesis of genetic origin inherited kidney disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009971 MONDO:0700081 False respiratory distress syndrome in premature infants newborn respiratory distress syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009972 MONDO:0003847 False respiratory underresponsiveness to hypoxia and hypercapnia hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009973 MONDO:0017855 False reticular dysgenesis T-B- severe combined immunodeficiency UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009973 MONDO:0031520 False reticular dysgenesis familial severe combined immunodeficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0009974 MONDO:0005071 False familial hemophagocytic lymphohistiocytosis type 1 nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0009975 MONDO:0000612 False reticulum cell sarcoma lymphatic system cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0009975 MONDO:0005089 False reticulum cell sarcoma sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0009975 MONDO:0020082 False reticulum cell sarcoma dendritic cell tumor UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009976 MONDO:0003847 False retinal degeneration and epilepsy hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009978 MONDO:0019118 False retinal degeneration-nanophthalmos-glaucoma syndrome inherited retinal dystrophy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009979 MONDO:0018973 False reticular dystrophy of the retinal pigment epithelium patterned dystrophy of the retinal pigment epithelium UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009980 MONDO:0003847 False retinal telangiectasia and hypogammaglobulinemia hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009982 MONDO:0003847 False retinitis pigmentosa inversa with deafness hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009983 MONDO:0002254 False retinitis pigmentosa-intellectual disability-deafness-hypogenitalism syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009983 MONDO:0003847 False retinitis pigmentosa-intellectual disability-deafness-hypogenitalism syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009984 MONDO:0019200 False late-adult onset retinitis pigmentosa retinitis pigmentosa UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS MONDO:0009985 MONDO:0015126 False retinohepatoendocrinologic syndrome polyendocrinopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009986 MONDO:0003847 False retinopathy, pigmentary, and intellectual disability hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009987 MONDO:0019200 False autosomal recessive pericentral pigmentary retinopathy retinitis pigmentosa UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS MONDO:0009988 MONDO:0004579 False retinoschisis of fovea retinoschisis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009988 MONDO:0019118 False retinoschisis of fovea inherited retinal dystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009990 MONDO:0019118 False Revesz syndrome inherited retinal dystrophy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0009992 MONDO:0000866 False myoglobinuria, acute recurrent, autosomal recessive hereditary myoglobinuria UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009992 MONDO:0020504 False myoglobinuria, acute recurrent, autosomal recessive hereditary recurrent myoglobinuria UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009992 MONDO:0020683 False myoglobinuria, acute recurrent, autosomal recessive acute disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009992 MONDO:0700223 False myoglobinuria, acute recurrent, autosomal recessive hereditary skeletal muscle disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009993 MONDO:0003847 False embryonal rhabdomyosarcoma hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0009996 MONDO:0018230 False rhizomelic syndrome, Urbach type skeletal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009998 MONDO:0015161 False Richieri Costa-Pereira syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009998 MONDO:0018230 False Richieri Costa-Pereira syndrome skeletal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009999 MONDO:0006025 False autosomal recessive Robinow syndrome autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0010000 MONDO:0003847 False rod-cone dystrophy, sensorineural deafness, and Fanconi-type renal dysfunction hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010001 MONDO:0005328 False ectodermal dysplasia-blindness syndrome eye disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010001 MONDO:0019287 False ectodermal dysplasia-blindness syndrome ectodermal dysplasia syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING -MONDO:0010002 MONDO:0015951 False Rothmund-Thomson syndrome hereditary photodermatosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010002 MONDO:0015356 False Rothmund-Thomson syndrome hereditary neoplastic syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010002 MONDO:0021147 False Rothmund-Thomson syndrome disorder of development or morphogenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010002 MONDO:0100137 False Rothmund-Thomson syndrome telomere syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010003 MONDO:0003847 False Rowley-Rosenberg syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010004 MONDO:0000426 False EEC syndrome autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0010004 MONDO:0018234 False EEC syndrome dysostosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0010004 MONDO:0019054 False EEC syndrome congenital limb malformation UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010004 MONDO:0024458 False EEC syndrome disorder of visual system UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010005 MONDO:0017351 False saccharopinuria inborn disorder of lysine and hydroxylysine metabolism UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010006 MONDO:0004884 False Sandhoff disease eye degenerative disorder UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0010006 MONDO:0020127 False Sandhoff disease hereditary peripheral neuropathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010006 MONDO:0020143 False Sandhoff disease cerebral lipidosis with dementia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0010007 MONDO:0015159 False microbrachycephaly-ptosis-cleft lip syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010008 MONDO:0019239 False sarcosinemia inborn disorder of serine family metabolism UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010008 MONDO:0045020 False sarcosinemia glycine metabolism disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010008 MONDO:0100477 False sarcosinemia disorder of methylamine metabolism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010010 MONDO:0000508 False Schinzel-Giedion syndrome syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010010 MONDO:0002320 False Schinzel-Giedion syndrome congenital nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010010 MONDO:0015160 False Schinzel-Giedion syndrome multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010010 MONDO:0019287 False Schinzel-Giedion syndrome ectodermal dysplasia syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING -MONDO:0010011 MONDO:0017103 False schizencephaly encephaloclastic disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010013 MONDO:0005516 False schneckenbecken dysplasia osteochondrodysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0010013 MONDO:0015286 False schneckenbecken dysplasia congenital disorder of glycosylation UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0010011 MONDO:0002320 False schizencephaly congenital nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010013 MONDO:0800080 False schneckenbecken dysplasia severe spondylodysplastic dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010014 MONDO:0018230 False craniometadiaphyseal dysplasia, wormian bone type skeletal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010015 MONDO:0019629 False anterior segment dysgenesis 7 sclerocornea UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0010017 MONDO:0015531 False sea-blue histiocyte syndrome non-Langerhans cell histiocytosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0010017 MONDO:0015905 False sea-blue histiocyte syndrome syndromic dyslipidemia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010017 MONDO:0019255 False sea-blue histiocyte syndrome sphingolipidosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0010018 MONDO:0003847 False second metatarsal-metacarpal syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010019 MONDO:0001341 False secretory component deficiency selective IgA deficiency disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010020 MONDO:0018883 False congenital generalized lipodystrophy type 2 Berardinelli-Seip congenital lipodystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010021 MONDO:0016027 False seizures, benign familial neonatal, autosomal recessive benign neonatal seizures UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0010022 MONDO:0003847 False senile plaque formation hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010025 MONDO:0003847 False short stature-obesity syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010026 MONDO:0002254 False SHORT syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0010026 MONDO:0005328 False SHORT syndrome eye disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0010026 MONDO:0015160 False SHORT syndrome multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010026 MONDO:0015161 False SHORT syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010026 MONDO:0015327 False SHORT syndrome developmental anomaly of metabolic origin UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010026 MONDO:0020087 False SHORT syndrome hereditary lipodystrophy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010027 MONDO:0017706 False free sialic acid storage disease, infantile form disorder of carbohydrate transmembrane transport and absorption UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010027 MONDO:0019366 False free sialic acid storage disease, infantile form free sialic acid storage disease UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010027 MONDO:0800088 False free sialic acid storage disease, infantile form lysosomal storage disease with skeletal involvement UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010028 MONDO:0017736 False sialuria disorder of sialic acid metabolism UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010028 MONDO:0019366 False sialuria free sialic acid storage disease UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010029 MONDO:0018677 False situs inversus visceral heterotaxy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0010030 MONDO:0000586 False Sjogren syndrome autoimmune disorder of exocrine system UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0010030 MONDO:0001142 False Sjogren syndrome salivary gland disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0010030 MONDO:0002254 False Sjogren syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0010030 MONDO:0024625 False Sjogren syndrome disorder of lacrimal gland UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010031 MONDO:0002051 False Sjogren-Larsson syndrome integumentary system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0010031 MONDO:0004884 False Sjogren-Larsson syndrome eye degenerative disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0010031 MONDO:0006025 False Sjogren-Larsson syndrome autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0010031 MONDO:0015905 False Sjogren-Larsson syndrome syndromic dyslipidemia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010031 MONDO:0018117 False Sjogren-Larsson syndrome disorder of phospholipids, sphingolipids and fatty acids biosynthesis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010031 MONDO:0019046 False Sjogren-Larsson syndrome leukodystrophy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS MONDO:0010032 MONDO:0003847 False Sjogren-Larsson-like ichthyosis without CNS or eye involvement hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010033 MONDO:0019347 False generalized peeling skin syndrome peeling skin syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010035 MONDO:0005328 False Smith-Lemli-Opitz syndrome eye disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0010035 MONDO:0015159 False Smith-Lemli-Opitz syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010035 MONDO:0015905 False Smith-Lemli-Opitz syndrome syndromic dyslipidemia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010035 MONDO:0045017 False Smith-Lemli-Opitz syndrome cholesterol biosynthetic process disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010036 MONDO:0015170 False congenital secretory sodium diarrhea 3 congenital sodium diarrhea UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010036 MONDO:0045032 False congenital secretory sodium diarrhea 3 congenital secretory diarrhea UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010037 MONDO:0003847 False sodium-potassium-ATPase activity of red cell hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010038 MONDO:0003847 False growth delay due to insulin-like growth factor I resistance hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010038 MONDO:0015892 False growth delay due to insulin-like growth factor I resistance growth hormone insensitivity syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010039 MONDO:0015159 False congenital heart defect-round face-developmental delay syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010040 MONDO:0003847 False ataxia, spastic, childhood-onset, autosomal recessive, with optic atrophy and intellectual disability hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010041 MONDO:0015244 False Charlevoix-Saguenay spastic ataxia autosomal recessive cerebellar ataxia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS -MONDO:0010041 MONDO:0017847 False Charlevoix-Saguenay spastic ataxia autosomal recessive spastic ataxia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010042 MONDO:0003847 False spastic diplegia and intellectual disability hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010043 MONDO:0015087 False hereditary spastic paraplegia 17 autosomal dominant complex spastic paraplegia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010043 MONDO:0015362 False hereditary spastic paraplegia 17 neuronopathy, distal hereditary motor, autosomal dominant UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS -MONDO:0010044 MONDO:0015150 False hereditary spastic paraplegia 15 complex hereditary spastic paraplegia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010046 MONDO:0015150 False hereditary spastic paraplegia 23 complex hereditary spastic paraplegia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010048 MONDO:0003847 False spastic paraplegia with myoclonic epilepsy hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010049 MONDO:0015150 False spastic paraplegia-glaucoma-intellectual disability syndrome complex hereditary spastic paraplegia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010051 MONDO:0002254 False spastic tetraplegia-retinitis pigmentosa-intellectual disability syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010051 MONDO:0003847 False spastic tetraplegia-retinitis pigmentosa-intellectual disability syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010053 MONDO:0019350 False hereditary spherocytosis type 3 hereditary spherocytosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0010054 MONDO:0003847 False spinal muscular atrophy with intellectual disability hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010055 MONDO:0003847 False spinal muscular atrophy with microcephaly and mental subnormality hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010056 MONDO:0019079 False spinal muscular atrophy, type IV proximal spinal muscular atrophy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010057 MONDO:0001516 False spinal muscular atrophy, Ryukyuan type spinal muscular atrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010058 MONDO:0001516 False scapuloperoneal spinal muscular atrophy, autosomal recessive spinal muscular atrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010058 MONDO:0006025 False scapuloperoneal spinal muscular atrophy, autosomal recessive autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010058 MONDO:0024257 False scapuloperoneal spinal muscular atrophy, autosomal recessive hereditary motor neuron disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010060 MONDO:0020046 False mitochondrial DNA depletion syndrome 7 (hepatocerebral type) autosomal recessive degenerative and progressive cerebellar ataxia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010060 MONDO:0100512 False mitochondrial DNA depletion syndrome 7 (hepatocerebral type) mitochondrial DNA depletion syndrome, hepatocerebral form UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010061 MONDO:0020047 False autosomal recessive cerebellar ataxia-blindness-deafness syndrome autosomal recessive syndromic cerebellar ataxia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010062 MONDO:0100309 False spinocerebellar ataxia-dysmorphism syndrome hereditary ataxia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010063 MONDO:0002254 False corneal-cerebellar syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010063 MONDO:0004884 False corneal-cerebellar syndrome eye degenerative disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010064 MONDO:0002254 False spastic ataxia-corneal dystrophy syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010064 MONDO:0017847 False spastic ataxia-corneal dystrophy syndrome autosomal recessive spastic ataxia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010064 MONDO:0024458 False spastic ataxia-corneal dystrophy syndrome disorder of visual system UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010065 MONDO:0008458 False spinocerebellar degeneration with slow eye movements spinocerebellar ataxia type 2 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING -MONDO:0010066 MONDO:0003778 False familial isolated congenital asplenia inborn error of immunity UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010066 MONDO:0021147 False familial isolated congenital asplenia disorder of development or morphogenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010067 MONDO:0003847 False splenoportal vascular anomalies hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010068 MONDO:0100510 False spondyloepimetaphyseal dysplasia, sponastrime type spondyloepimetaphyseal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0010069 MONDO:0002254 False spondylocostal dysostosis-anal and genitourinary malformations syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010069 MONDO:0003847 False spondylocostal dysostosis-anal and genitourinary malformations syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010069 MONDO:0005039 False spondylocostal dysostosis-anal and genitourinary malformations syndrome reproductive system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010069 MONDO:0018234 False spondylocostal dysostosis-anal and genitourinary malformations syndrome dysostosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010070 MONDO:0018662 False brachyolmia type 1, Hobaek type autosomal recessive brachyolmia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010072 MONDO:0006025 False spondyloepiphyseal dysplasia tarda, autosomal recessive autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0010072 MONDO:0019667 False spondyloepiphyseal dysplasia tarda, autosomal recessive spondyloepiphyseal dysplasia tarda UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0010073 MONDO:0019667 False spondyloepiphyseal dysplasia tarda, Kohn type spondyloepiphyseal dysplasia tarda UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0010074 MONDO:0018662 False brachyolmia type 1, toledo type autosomal recessive brachyolmia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010076 MONDO:0100510 False spondyloepimetaphyseal dysplasia, Irapa type spondyloepimetaphyseal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010077 MONDO:0100510 False spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome spondyloepimetaphyseal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0010078 MONDO:0016761 False spondyloperipheral dysplasia spondyloepiphyseal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0010078 MONDO:0022800 False spondyloperipheral dysplasia type 2 collagenopathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010079 MONDO:0017686 False Canavan disease inborn aminoacylase deficiency UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010080 MONDO:0002254 False familial infantile bilateral striatal necrosis syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010080 MONDO:0015518 False familial infantile bilateral striatal necrosis infantile bilateral striatal necrosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010081 MONDO:0003847 False subaortic stenosis, membranous hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010081 MONDO:0005561 False subaortic stenosis, membranous aortic disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010081 MONDO:0021147 False subaortic stenosis, membranous disorder of development or morphogenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010082 MONDO:0002254 False subaortic stenosis-short stature syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010083 MONDO:0000698 False succinic semialdehyde dehydrogenase deficiency gamma-amino butyric acid metabolism disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0010084 MONDO:0003847 False sucrosuria, hiatus hernia and intellectual disability hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010085 MONDO:0002562 False Schilder disease demyelinating disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010087 MONDO:0019054 False Sugarman brachydactyly congenital limb malformation UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010088 MONDO:0002051 False mucosulfatidosis integumentary system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0010088 MONDO:0015327 False mucosulfatidosis developmental anomaly of metabolic origin UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010088 MONDO:0019255 False mucosulfatidosis sphingolipidosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0010088 MONDO:0800088 False mucosulfatidosis lysosomal storage disease with skeletal involvement UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010089 MONDO:0019358 False isolated sulfite oxidase deficiency encephalopathy due to sulfite oxidase deficiency UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010090 MONDO:0015338 False Summitt syndrome syndromic craniosynostosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010092 MONDO:0015159 False Filippi syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010092 MONDO:0800066 False Filippi syndrome polydactyly-syndactyly-triphalangism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010093 MONDO:0003847 False syndesmodysplasic dwarfism hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010094 MONDO:0005497 False spondylocarpotarsal synostosis syndrome bone development disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0010094 MONDO:0019690 False spondylocarpotarsal synostosis syndrome filamin-related bone disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010094 MONDO:0019694 False spondylocarpotarsal synostosis syndrome spondylodysplastic dysplasia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010095 MONDO:0100309 False ataxia-tapetoretinal degeneration syndrome hereditary ataxia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010096 MONDO:0003847 False tardive dyskinesia hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010097 MONDO:0002242 False Tatsumi factor deficiency coagulation protein disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010097 MONDO:0021181 False Tatsumi factor deficiency inherited blood coagulation disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010098 MONDO:0003847 False taurodontism hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010098 MONDO:0006999 False taurodontism tooth disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010099 MONDO:0017720 False Tay-Sachs disease AB variant GM2 gangliosidosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0010100 MONDO:0004884 False Tay-Sachs disease eye degenerative disorder UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0010100 MONDO:0020127 False Tay-Sachs disease hereditary peripheral neuropathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010100 MONDO:0020143 False Tay-Sachs disease cerebral lipidosis with dementia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0010101 MONDO:0005172 False Teebi-Shaltout syndrome skeletal system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010101 MONDO:0019287 False Teebi-Shaltout syndrome ectodermal dysplasia syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0010102 MONDO:0019287 False taurodontia-absent teeth-sparse hair syndrome ectodermal dysplasia syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0010103 MONDO:0003847 False teeth, fused hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010104 MONDO:0021147 False non-eruption of teeth-maxillary hypoplasia-genu valgum syndrome disorder of development or morphogenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010105 MONDO:0004015 False teratoma, pineal pineal region teratoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010106 MONDO:0003847 False testes, rudimentary hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010108 MONDO:0018202 False testicular germ cell tumor gonadal germ cell tumor UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010109 MONDO:0003847 False tetraamelia with ectodermal dysplasia and lacrimal duct abnormalities hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010110 MONDO:0003847 False tetraamelia-multiple malformations syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0010110 MONDO:0015161 False tetraamelia-multiple malformations syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010110 MONDO:0018234 False tetraamelia-multiple malformations syndrome dysostosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0010110 MONDO:0019054 False tetraamelia-multiple malformations syndrome congenital limb malformation UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010111 MONDO:0019287 False odontotrichomelic syndrome ectodermal dysplasia syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0010112 MONDO:0003847 False thalamic degeneration, symmetric infantile hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010114 MONDO:0017042 False thanatophoric dysplasia, Glasgow variant thanatophoric dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010115 MONDO:0015929 False thoracic dysplasia-hydrocephalus syndrome thoracic malformation UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010116 MONDO:0015929 False thoracomelic dysplasia thoracic malformation UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010116 MONDO:0019691 False thoracomelic dysplasia short rib dysplasia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010117 MONDO:0800063 False 3M syndrome 1 primordial dwarfism and slender bone disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010118 MONDO:0006025 False inherited threoninemia autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010118 MONDO:0019052 False inherited threoninemia inborn errors of metabolism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010121 MONDO:0009332 False thrombocytopenia-absent radius syndrome congenital hematological disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010121 MONDO:0018234 False thrombocytopenia-absent radius syndrome dysostosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0010121 MONDO:0018795 False thrombocytopenia-absent radius syndrome syndromic constitutional thrombocytopenia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010121 MONDO:0019054 False thrombocytopenia-absent radius syndrome congenital limb malformation UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010121 MONDO:0019713 False thrombocytopenia-absent radius syndrome non-syndromic limb reduction defect UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010122 MONDO:0000009 False congenital thrombotic thrombocytopenic purpura inherited bleeding disorder, platelet-type UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0010122 MONDO:0009332 False congenital thrombotic thrombocytopenic purpura congenital hematological disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010122 MONDO:0021181 False congenital thrombotic thrombocytopenic purpura inherited blood coagulation disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010122 MONDO:0100241 False congenital thrombotic thrombocytopenic purpura inherited thrombocytopenia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0010124 MONDO:0003847 False thumb, distal hyperextensibility of hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010125 MONDO:0015159 False upper limb defect-eye and ear abnormalities syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010126 MONDO:0003847 False thymic aplasia with fetal death hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010127 MONDO:0003847 False thymoma, familial hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010127 MONDO:0006456 False thymoma, familial thymoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010128 MONDO:0002254 False thyrocerebrorenal syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010129 MONDO:0015161 False thymic-renal-anal-lung dysplasia multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010130 MONDO:0018381 False dihydropyrimidine dehydrogenase deficiency osteochondrosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0010130 MONDO:0018383 False dihydropyrimidine dehydrogenase deficiency osteonecrosis of genetic origin UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010130 MONDO:0019238 False dihydropyrimidine dehydrogenase deficiency inborn disorder of pyrimidine metabolism UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0010131 MONDO:0009043 False thyroid hormone resistance, generalized, autosomal recessive generalized resistance to thyroid hormone UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010132 MONDO:0005066 False familial thyroid dyshormonogenesis metabolic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0010133 MONDO:0010132 False thyroid dyshormonogenesis 2A familial thyroid dyshormonogenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0010133 MONDO:0045046 False thyroid dyshormonogenesis 2A inherited thyroid metabolism disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010134 MONDO:0002254 False Pendred syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0010134 MONDO:0006025 False Pendred syndrome autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0010135 MONDO:0010132 False thyroid dyshormonogenesis 3 familial thyroid dyshormonogenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0010135 MONDO:0045046 False thyroid dyshormonogenesis 3 inherited thyroid metabolism disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010136 MONDO:0010132 False thyroid dyshormonogenesis 4 familial thyroid dyshormonogenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0010136 MONDO:0045046 False thyroid dyshormonogenesis 4 inherited thyroid metabolism disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010137 MONDO:0010132 False thyroid dyshormonogenesis 5 familial thyroid dyshormonogenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0010137 MONDO:0045046 False thyroid dyshormonogenesis 5 inherited thyroid metabolism disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010138 MONDO:0005364 False thyrotoxicosis Graves disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0010139 MONDO:0016410 False isolated thyroid-stimulating hormone deficiency central congenital hypothyroidism UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010139 MONDO:0019824 False isolated thyroid-stimulating hormone deficiency non-acquired pituitary hormone deficiency UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010140 MONDO:0003847 False isolated thyrotropin-releasing hormone deficiency hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010141 MONDO:0003847 False tiglic acidemia hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010144 MONDO:0016240 False tibial hemimelia hemimelia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010145 MONDO:0003847 False tibia, absence of, with congenital deafness hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010146 MONDO:0005093 False Kerion celsi skin disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010147 MONDO:0003847 False tongue, pigmented fungiform papillae of hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010149 MONDO:0000424 False transcobalamin II deficiency inborn vitamin B12 deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0010148 MONDO:0005087 False Mounier-Kuhn syndrome respiratory system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010149 MONDO:0005046 False transcobalamin II deficiency immune system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0010149 MONDO:0016624 False transcobalamin II deficiency inherited deficiency anemia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010149 MONDO:0019220 False transcobalamin II deficiency inborn disorder of cobalamin metabolism and transport UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010151 MONDO:0016790 False tricarboxylic acid cycle, defect of tricarboxylic acid cycle disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010152 MONDO:0019287 False trichomegaly-retina pigmentary degeneration-dwarfism syndrome ectodermal dysplasia syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS -MONDO:0010153 MONDO:0019287 False trichoodontoonychial dysplasia ectodermal dysplasia syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING -MONDO:0010154 MONDO:0015161 False trigonocephaly-bifid nose-acral anomalies syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010155 MONDO:0015611 False Dorfman-Chanarin disease neutral lipid storage disease UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010156 MONDO:0015150 False Troyer syndrome complex hereditary spastic paraplegia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010157 MONDO:0003847 False Tryptophanuria with dwarfism hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010158 MONDO:0003847 False T-substance anomaly hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010159 MONDO:0005071 False mismatch repair cancer syndrome 1 nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010159 MONDO:0015356 False mismatch repair cancer syndrome 1 hereditary neoplastic syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010160 MONDO:0005328 False tyrosinemia type II eye disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0010160 MONDO:0017672 False tyrosinemia type II focal palmoplantar keratoderma UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010163 MONDO:0003847 False Tyrosinosis hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010164 MONDO:0018234 False phocomelia, Schinzel type dysostosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0010164 MONDO:0019054 False phocomelia, Schinzel type congenital limb malformation UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010164 MONDO:0019713 False phocomelia, Schinzel type non-syndromic limb reduction defect UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010165 MONDO:0003847 False ulna hypoplasia-intellectual disability syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010165 MONDO:0018234 False ulna hypoplasia-intellectual disability syndrome dysostosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010165 MONDO:0019054 False ulna hypoplasia-intellectual disability syndrome congenital limb malformation UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010166 MONDO:0003847 False ulnar agenesis and endocardial fibroelastosis hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010167 MONDO:0019228 False urocanic aciduria inborn disorder of histidine metabolism UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0010169 MONDO:0016484 False Usher syndrome type 2A Usher syndrome type 2 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0010170 MONDO:0016485 False Usher syndrome type 3A Usher syndrome type 3 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0010171 MONDO:0010168 False Usher syndrome type 1C Usher syndrome type 1 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0010172 MONDO:0002254 False VACTERL with hydrocephalus syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010172 MONDO:0003847 False VACTERL with hydrocephalus hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010173 MONDO:0017771 False Mayer-Rokitansky-Kuster-Hauser syndrome type 1 Mayer-Rokitansky-Kuster-Hauser syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0010174 MONDO:0003847 False Valinemia hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010175 MONDO:0003847 False van Bogaert-Hozay syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010176 MONDO:0013824 False orofaciodigital syndrome type 6 Joubert syndrome 17 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS -MONDO:0010176 MONDO:0020022 False orofaciodigital syndrome type 6 central nervous system malformation UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010177 MONDO:0003847 False vascular hyalinosis hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010179 MONDO:0003847 False isolated right ventricular hypoplasia hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010179 MONDO:0020291 False isolated right ventricular hypoplasia hypoplastic right heart syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010180 MONDO:0000359 False autosomal recessive spondylocostal dysostosis spondylocostal dysostosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010180 MONDO:0006025 False autosomal recessive spondylocostal dysostosis autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010180 MONDO:0017747 False autosomal recessive spondylocostal dysostosis disorder of fucoglycosan synthesis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010181 MONDO:0021189 False oculogastrointestinal muscular dystrophy intestinal motility disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010181 MONDO:0024458 False oculogastrointestinal muscular dystrophy disorder of visual system UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010182 MONDO:0007272 False hypercarotenemia and vitamin A deficiency, autosomal recessive hereditary hypercarotenemia and vitamin A deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING -MONDO:0010184 MONDO:0020127 False methylmalonic aciduria and homocystinuria type cblC hereditary peripheral neuropathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010185 MONDO:0100463 False methylmalonic aciduria and homocystinuria type cblD methylmalonic aciduria and/or homocystinuria, cblD type UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010186 MONDO:0019642 False vitamin D-dependent rickets, type 2A vitamin D-dependent rickets, type 2 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010186 MONDO:0800096 False vitamin D-dependent rickets, type 2A abnormal mineralization disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010188 MONDO:0005528 False familial isolated deficiency of vitamin E inborn vitamin metabolic disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0010188 MONDO:0020044 False familial isolated deficiency of vitamin E autosomal recessive metabolic cerebellar ataxia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010188 MONDO:0020127 False familial isolated deficiency of vitamin E hereditary peripheral neuropathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010189 MONDO:0003847 False vitiligo, progressive, with intellectual disability and urethral duplication hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010190 MONDO:0016759 False pontocerebellar hypoplasia type 2A pontocerebellar hypoplasia type 2 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0010191 MONDO:0019565 False von Willebrand disease 3 hereditary von Willebrand disease UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0010192 MONDO:0019518 False Waardenburg syndrome type 4A Waardenburg-Shah syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010193 MONDO:0015159 False Weaver syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010193 MONDO:0018230 False Weaver syndrome skeletal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010193 MONDO:0019716 False Weaver syndrome overgrowth syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010196 MONDO:0006025 False Werner syndrome autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0010196 MONDO:0015333 False Werner syndrome progeroid syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0010197 MONDO:0008675 False whistling face syndrome, recessive form Freeman-Sheldon syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS -MONDO:0010198 MONDO:0006873 False Wernicke-Korsakoff syndrome nutritional deficiency disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0010198 MONDO:0002254 False Wernicke-Korsakoff syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0010199 MONDO:0005267 False white forelock with malformations heart disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010199 MONDO:0015161 False white forelock with malformations multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010200 MONDO:0004689 False Wilson disease inborn metal metabolism disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0010200 MONDO:0017762 False Wilson disease disorder of copper metabolism UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010201 MONDO:0018298 False Winchester syndrome multicentric osteolysis-nodulosis-arthropathy spectrum UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010203 MONDO:0000508 False intellectual disability, Wolff type syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010203 MONDO:0002320 False intellectual disability, Wolff type congenital nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010203 MONDO:0015159 False intellectual disability, Wolff type multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010206 MONDO:0008686 False hypotrichosis 8 isolated familial wooly hair disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0010206 MONDO:0018914 False hypotrichosis 8 hypotrichosis simplex UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010207 MONDO:0002254 False wooly hair-hypotrichosis-everted lower lip-outstanding ears syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010208 MONDO:0018163 False wrinkly skin syndrome autosomal recessive cutis laxa type 2A UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS MONDO:0010212 MONDO:0016354 False xeroderma pigmentosum group D xeroderma pigmentosum-Cockayne syndrome complex UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010215 MONDO:0016354 False xeroderma pigmentosum group F xeroderma pigmentosum-Cockayne syndrome complex UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010216 MONDO:0008926 False xeroderma pigmentosum group G COFS syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS MONDO:0010216 MONDO:0016354 False xeroderma pigmentosum group G xeroderma pigmentosum-Cockayne syndrome complex UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010217 MONDO:0003847 False de Sanctis-Cacchione syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0010218 MONDO:0100249 False 46,XX sex reversal 2 46,XX testicular disorder of sex development UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0010219 MONDO:0003847 False xylosidase deficiency hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010220 MONDO:0005087 False Young syndrome respiratory system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010221 MONDO:0005267 False CHIME syndrome heart disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0010221 MONDO:0015159 False CHIME syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010221 MONDO:0015327 False CHIME syndrome developmental anomaly of metabolic origin UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010221 MONDO:0015905 False CHIME syndrome syndromic dyslipidemia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010221 MONDO:0017748 False CHIME syndrome inborn disorder of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010221 MONDO:0019287 False CHIME syndrome ectodermal dysplasia syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS MONDO:0010221 MONDO:0024458 False CHIME syndrome disorder of visual system UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010222 MONDO:0000425 False X-linked Opitz G/BBB syndrome X-linked disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010222 MONDO:0017138 False X-linked Opitz G/BBB syndrome Opitz G/BBB syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0010223 MONDO:0010622 False ichthyosis, X-linked, without steroid sulfatase deficiency recessive X-linked ichthyosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING -MONDO:0010224 MONDO:0002254 False corpus callosum agenesis-abnormal genitalia syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0010224 MONDO:0003847 False corpus callosum agenesis-abnormal genitalia syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0010226 MONDO:0016674 False 46,XY sex reversal 2 46,XY partial gonadal dysgenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010227 MONDO:0100437 False retinitis pigmentosa 3 RPGR-related retinopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010228 MONDO:0019586 False hearing loss, X-linked 3 X-linked nonsyndromic hearing loss UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0010229 MONDO:0019080 False alopecia, congenital alopecia totalis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010232 MONDO:0003847 False intestinal pseudoobstruction, neuronal, chronic idiopathic, X-linked hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0010232 MONDO:0014097 False intestinal pseudoobstruction, neuronal, chronic idiopathic, X-linked congenital short bowel syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010232 MONDO:0017574 False intestinal pseudoobstruction, neuronal, chronic idiopathic, X-linked chronic intestinal pseudoobstruction UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010232 MONDO:0700007 False intestinal pseudoobstruction, neuronal, chronic idiopathic, X-linked idiopathic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010237 MONDO:0002320 False X-linked intellectual disability-plagiocephaly syndrome congenital nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010237 MONDO:0015159 False X-linked intellectual disability-plagiocephaly syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010237 MONDO:0015338 False X-linked intellectual disability-plagiocephaly syndrome syndromic craniosynostosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010237 MONDO:0020119 False X-linked intellectual disability-plagiocephaly syndrome X-linked syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING -MONDO:0010238 MONDO:0019586 False hearing loss, X-linked 4 X-linked nonsyndromic hearing loss UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0010239 MONDO:0015146 False lissencephaly type 1 due to doublecortin gene mutation classic lissencephaly UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010239 MONDO:0020491 False lissencephaly type 1 due to doublecortin gene mutation subcortical band heterotopia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0010241 MONDO:0044749 False congenital stationary night blindness 2A X-linked congenital stationary night blindness UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010241 MONDO:0700243 False congenital stationary night blindness 2A CACNA1F-related retinopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010242 MONDO:0008824 False fetal akinesia syndrome, X-linked fetal akinesia deformation sequence UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS MONDO:0010243 MONDO:0000425 False X-linked immunoneurologic disorder X-linked disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010243 MONDO:0003778 False X-linked immunoneurologic disorder inborn error of immunity UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010243 MONDO:0005071 False X-linked immunoneurologic disorder nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010244 MONDO:0003847 False CGF1 hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010245 MONDO:0021155 False X-linked cone-rod dystrophy 2 X-linked cone-rod dystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010246 MONDO:0016160 False developmental and epileptic encephalopathy, 9 X-linked intellectual disability-epilepsy syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010246 MONDO:0100148 False developmental and epileptic encephalopathy, 9 X-linked complex neurodevelopmental disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010247 MONDO:0018544 False X-linked cerebral adrenoleukodystrophy adrenoleukodystrophy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010248 MONDO:0016761 False X-linked spondyloepimetaphyseal dysplasia spondyloepiphyseal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0010252 MONDO:0100195 False intellectual disability, X-linked, with panhypopituitarism X-linked intellectual disability with hypopituitarism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010255 MONDO:0020573 False diabetes mellitus, insulin-dependent, X-linked, susceptibility to inherited disease susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010257 MONDO:0023122 False prostate cancer, hereditary, X-linked 1 familial prostate carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0010260 MONDO:0003847 False arthrogryposis, congenital, lower limb, X-linked hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010262 MONDO:0003847 False hypotonia, congenital nystagmus, ataxia, and abnormal auditory brainstem responses hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010263 MONDO:0002254 False Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0010264 MONDO:0000425 False X-linked adrenal hypoplasia congenita X-linked disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0010264 MONDO:0002320 False X-linked adrenal hypoplasia congenita congenital nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0010264 MONDO:0015129 False X-linked adrenal hypoplasia congenita chronic primary adrenal insufficiency UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS -MONDO:0010264 MONDO:0015770 False X-linked adrenal hypoplasia congenita congenital hypogonadotropic hypogonadism UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010265 MONDO:0003847 False Simpson-Golabi-Behmel syndrome type 2 hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0010264 MONDO:0016241 False X-linked adrenal hypoplasia congenita alternating hemiplegia of childhood UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS MONDO:0010265 MONDO:0010731 False Simpson-Golabi-Behmel syndrome type 2 Simpson-Golabi-Behmel syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010267 MONDO:0003847 False episodic muscle weakness, X-linked hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010268 MONDO:0000425 False X-linked lissencephaly with abnormal genitalia X-linked disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0010268 MONDO:0002254 False X-linked lissencephaly with abnormal genitalia syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0010269 MONDO:0004348 False Coats disease retinal telangiectasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0010269 MONDO:0020247 False Coats disease congenital vitreoretinal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010270 MONDO:0002320 False syndromic X-linked intellectual disability 7 congenital nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0010270 MONDO:0015159 False syndromic X-linked intellectual disability 7 multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010271 MONDO:0002254 False X-linked myotubular myopathy-abnormal genitalia syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010271 MONDO:0010683 False X-linked myotubular myopathy-abnormal genitalia syndrome X-linked myotubular myopathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING -MONDO:0010271 MONDO:0017007 False X-linked myotubular myopathy-abnormal genitalia syndrome partial deletion of the long arm of chromosome X UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010271 MONDO:0020040 False X-linked myotubular myopathy-abnormal genitalia syndrome 46,XY disorder of sex development UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010273 MONDO:0004952 False lymphoma, Hodgkin, X-linked pseudoautosomal Hodgkins lymphoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010274 MONDO:0010108 False testicular germ cell tumor 1 testicular germ cell tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0010275 MONDO:0100510 False spondyloepimetaphyseal dysplasia, Bieganski type spondyloepimetaphyseal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010276 MONDO:0003847 False radioulnar synostosis, radial ray abnormalities, and severe malformations in the male hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010277 MONDO:0002320 False syndromic X-linked intellectual disability Shashi type congenital nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0010277 MONDO:0015159 False syndromic X-linked intellectual disability Shashi type multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010278 MONDO:0002254 False Christianson syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0010278 MONDO:0003847 False Christianson syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0010279 MONDO:0019690 False terminal osseous dysplasia-pigmentary defects syndrome filamin-related bone disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010279 MONDO:0019695 False terminal osseous dysplasia-pigmentary defects syndrome acromelic dysplasia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010280 MONDO:0000728 False ptosis, hereditary congenital 2 ptosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010281 MONDO:0017738 False Danon disease lysosomal glycogen storage disease UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010282 MONDO:0000070 False mycobacterium tuberculosis, susceptibility to, X-linked mycobacterium tuberculosis, susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010283 MONDO:0002320 False syndromic X-linked intellectual disability Lubs type congenital nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0010283 MONDO:0015159 False syndromic X-linked intellectual disability Lubs type multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010283 MONDO:0017010 False syndromic X-linked intellectual disability Lubs type partial duplication of the long arm of chromosome X UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010284 MONDO:0002254 False Armfield syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0010285 MONDO:0002320 False syndromic X-linked intellectual disability Abidi type congenital nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0010285 MONDO:0015159 False syndromic X-linked intellectual disability Abidi type multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010286 MONDO:0002320 False syndromic X-linked intellectual disability Siderius type congenital nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0010286 MONDO:0015159 False syndromic X-linked intellectual disability Siderius type multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010288 MONDO:0005495 False adrenomyodystrophy adrenal gland disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010292 MONDO:0800462 False Uruguay Faciocardiomusculoskeletal syndrome FHL1-related myopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010293 MONDO:0003778 False ectodermal dysplasia and immune deficiency inborn error of immunity UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0010293 MONDO:0016535 False ectodermal dysplasia and immune deficiency hypohidrotic ectodermal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0010294 MONDO:0000425 False X-linked severe congenital neutropenia X-linked disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0010295 MONDO:0017198 False anhidrotic ectodermal dysplasia-immunodeficiency-osteopetrosis-lymphedema syndrome osteopetrosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010295 MONDO:0019287 False anhidrotic ectodermal dysplasia-immunodeficiency-osteopetrosis-lymphedema syndrome ectodermal dysplasia syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010295 MONDO:0019313 False anhidrotic ectodermal dysplasia-immunodeficiency-osteopetrosis-lymphedema syndrome lymphatic malformation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010295 MONDO:0100162 False anhidrotic ectodermal dysplasia-immunodeficiency-osteopetrosis-lymphedema syndrome IKBKG-related immunodeficiency with or without ectodermal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010298 MONDO:0016088 False Lesch-Nyhan syndrome hypoxanthine-guanine phosphoribosyltransferase deficiency UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010299 MONDO:0016088 False hypoxanthine guanine phosphoribosyltransferase partial deficiency hypoxanthine-guanine phosphoribosyltransferase deficiency UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010297 MONDO:0002010 False FG syndrome 2 FG syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0010298 MONDO:0002254 False Lesch-Nyhan syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0010302 MONDO:0005328 False Ito hypomelanosis eye disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0010302 MONDO:0019287 False Ito hypomelanosis ectodermal dysplasia syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS MONDO:0010302 MONDO:0019290 False Ito hypomelanosis hypopigmentation of the skin UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010304 MONDO:0000162 False Graves disease, susceptibility to, X-linked 1 autoimmune thyroid disease, susceptibility to UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010305 MONDO:0002320 False creatine transporter deficiency congenital nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0010305 MONDO:0015159 False creatine transporter deficiency multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010305 MONDO:0015327 False creatine transporter deficiency developmental anomaly of metabolic origin UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010306 MONDO:0002320 False X-linked intellectual disability, Cabezas type congenital nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0010306 MONDO:0015159 False X-linked intellectual disability, Cabezas type multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010308 MONDO:0100241 False thrombocytopenia, X-linked, with or without dyserythropoietic anemia inherited thrombocytopenia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING -MONDO:0010310 MONDO:0017198 False osteopathia striata with cranial sclerosis osteopetrosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0010312 MONDO:0003847 False radial ray deficiency, X-linked hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010314 MONDO:0020340 False polymicrogyria, bilateral perisylvian, X-linked bilateral perisylvian polymicrogyria UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010315 MONDO:0031520 False T-B+ severe combined immunodeficiency due to gamma chain deficiency familial severe combined immunodeficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING -MONDO:0010315 MONDO:0044200 False T-B+ severe combined immunodeficiency due to gamma chain deficiency T-B+ severe combined immunodeficiency UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010319 MONDO:0016160 False syndromic X-linked intellectual disability Hedera type X-linked intellectual disability-epilepsy syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010316 MONDO:0002010 False FG syndrome 3 FG syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0010318 MONDO:0002010 False FG syndrome 4 FG syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0010319 MONDO:0100146 False syndromic X-linked intellectual disability Hedera type ATP6AP2-related disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010323 MONDO:0002254 False Atkin-Flaitz syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010327 MONDO:0004069 False HSD10 mitochondrial disease inborn mitochondrial metabolism disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0010327 MONDO:0005071 False HSD10 mitochondrial disease nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0010328 MONDO:0002254 False alpha-thalassemia-myelodysplastic syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0010328 MONDO:0003847 False alpha-thalassemia-myelodysplastic syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0010328 MONDO:0005570 False alpha-thalassemia-myelodysplastic syndrome hematologic disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0010331 MONDO:0020573 False coronary heart disease, susceptibility to, 3 inherited disease susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010332 MONDO:0002320 False X-linked intellectual disability-cubitus valgus-dysmorphism syndrome congenital nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010332 MONDO:0015159 False X-linked intellectual disability-cubitus valgus-dysmorphism syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010332 MONDO:0020119 False X-linked intellectual disability-cubitus valgus-dysmorphism syndrome X-linked syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0010333 MONDO:0021147 False corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome disorder of development or morphogenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010334 MONDO:0000761 False severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome syndrome caused by partial chromosomal deletion UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0010334 MONDO:0044807 False severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome inherited dystonia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0010335 MONDO:0021155 False X-linked cone-rod dystrophy 3 X-linked cone-rod dystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010335 MONDO:0700243 False X-linked cone-rod dystrophy 3 CACNA1F-related retinopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010337 MONDO:0020022 False X-linked intellectual disability-cerebellar hypoplasia syndrome central nervous system malformation UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010338 MONDO:0000425 False X-linked distal spinal muscular atrophy type 3 X-linked disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0010338 MONDO:0001516 False X-linked distal spinal muscular atrophy type 3 spinal muscular atrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0010338 MONDO:0018894 False X-linked distal spinal muscular atrophy type 3 distal hereditary motor neuropathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010339 MONDO:0020119 False epilepsy, X-linked 1, with variable learning disabilities and behavior disorders X-linked syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS -MONDO:0010339 MONDO:0859390 False epilepsy, X-linked 1, with variable learning disabilities and behavior disorders epilepsy, X-linked, with or without impaired intellectual development and dysmorphic features UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0010340 MONDO:0100440 False Asperger syndrome, X-linked, susceptibility to, 1 Asperger syndrome, susceptibility to UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010348 MONDO:0020573 False dyslexia, susceptibility to, 9 inherited disease susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010353 MONDO:0002254 False deafness-intellectual disability, Martin-Probst type syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0010354 MONDO:0020119 False Allan-Herndon-Dudley syndrome X-linked syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS MONDO:0010355 MONDO:0002320 False syndromic X-linked intellectual disability Claes-Jensen type congenital nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0010355 MONDO:0015159 False syndromic X-linked intellectual disability Claes-Jensen type multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010356 MONDO:0015962 False nephrogenic syndrome of inappropriate antidiuresis inherited renal tubular disease UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010358 MONDO:0020605 False hypophosphatemic rickets, X-linked recessive X-linked recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0010358 MONDO:0020720 False hypophosphatemic rickets, X-linked recessive X-linked hypophosphatemic rickets UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010358 MONDO:0800096 False hypophosphatemic rickets, X-linked recessive abnormal mineralization disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010360 MONDO:0017279 False parkinson disease 12 young-onset Parkinson disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010362 MONDO:0002412 False glycogen storage disease IXd disorder of glycogen metabolism UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS -MONDO:0010364 MONDO:0017004 False X-linked intellectual disability-retinitis pigmentosa syndrome partial monosomy of the short arm of chromosome X UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010364 MONDO:0020119 False X-linked intellectual disability-retinitis pigmentosa syndrome X-linked syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING -MONDO:0010365 MONDO:0009711 False myopathy, congenital, with fiber-type disproportion, X-linked congenital fiber-type disproportion myopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0010367 MONDO:0018230 False SHOX-related short stature skeletal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010366 MONDO:0002010 False FG syndrome 5 FG syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0010370 MONDO:0019713 False Cornelia de Lange syndrome 2 non-syndromic limb reduction defect UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010371 MONDO:0000425 False Aland island eye disease X-linked disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0010371 MONDO:0700243 False Aland island eye disease CACNA1F-related retinopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010375 MONDO:0016160 False developmental and epileptic encephalopathy, 8 X-linked intellectual disability-epilepsy syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010375 MONDO:0021022 False developmental and epileptic encephalopathy, 8 hereditary hyperekplexia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS MONDO:0010375 MONDO:0100148 False developmental and epileptic encephalopathy, 8 X-linked complex neurodevelopmental disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010378 MONDO:0015364 False X-linked hereditary sensory and autonomic neuropathy with hearing loss hereditary sensory and autonomic neuropathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS MONDO:0010378 MONDO:0019586 False X-linked hereditary sensory and autonomic neuropathy with hearing loss X-linked nonsyndromic hearing loss UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0010379 MONDO:0004736 False Brunner syndrome inborn disorder of amino acid metabolism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0010379 MONDO:0019219 False Brunner syndrome inborn disorder of neurotransmitter metabolism and transport UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010379 MONDO:0020605 False Brunner syndrome X-linked recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0010380 MONDO:0003847 False cataract, ataxia, short stature, and intellectual disability hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010381 MONDO:0003847 False Tn polyagglutination syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0010382 MONDO:0016612 False fragile X-associated tremor/ataxia syndrome X-linked cerebellar ataxia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0010385 MONDO:0020605 False X-linked lymphoproliferative disease due to XIAP deficiency X-linked recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0010386 MONDO:0003778 False immunodeficiency 33 inborn error of immunity UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0010382 MONDO:0002254 False fragile X-associated tremor/ataxia syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0010386 MONDO:0100162 False immunodeficiency 33 IKBKG-related immunodeficiency with or without ectodermal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010388 MONDO:0015587 False rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked rolandic epilepsy-speech dyspraxia syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010388 MONDO:0015653 False rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked monogenic epilepsy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010389 MONDO:0017905 False X-linked Mendelian susceptibility to mycobacterial diseases due to CYBB deficiency X-linked Mendelian susceptibility to mycobacterial diseases UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010390 MONDO:0017304 False ocular albinism with late-onset sensorineural deafness ocular albinism UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010391 MONDO:0019803 False angioma serpiginosum, X-linked angioma serpiginosum UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010392 MONDO:0002412 False glycogen storage disease due to phosphoglycerate kinase 1 deficiency disorder of glycogen metabolism UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS MONDO:0010392 MONDO:0017688 False glycogen storage disease due to phosphoglycerate kinase 1 deficiency disorder of glycolysis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010395 MONDO:0019236 False phosphoribosylpyrophosphate synthetase superactivity inborn disorder of purine metabolism UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010396 MONDO:0017746 False developmental and epileptic encephalopathy, 2 atypical Rett syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010396 MONDO:0018097 False developmental and epileptic encephalopathy, 2 West syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0010396 MONDO:0100039 False developmental and epileptic encephalopathy, 2 CDKL5 disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010397 MONDO:0015653 False severe neonatal-onset encephalopathy with microcephaly monogenic epilepsy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010397 MONDO:0020070 False severe neonatal-onset encephalopathy with microcephaly neonatal epilepsy syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010397 MONDO:0100198 False severe neonatal-onset encephalopathy with microcephaly Mendelian encephalopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010399 MONDO:0010613 False chromosome Xp21 deletion syndrome inborn glycerol kinase deficiency UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS -MONDO:0010399 MONDO:0017004 False chromosome Xp21 deletion syndrome partial monosomy of the short arm of chromosome X UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010400 MONDO:0000727 False X-linked scapuloperoneal muscular dystrophy scapuloperoneal myopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010400 MONDO:0800462 False X-linked scapuloperoneal muscular dystrophy FHL1-related myopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010401 MONDO:0010680 False X-linked myopathy with postural muscle atrophy X-linked Emery-Dreifuss muscular dystrophy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010401 MONDO:0800462 False X-linked myopathy with postural muscle atrophy FHL1-related myopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010403 MONDO:0019290 False albinism-hearing loss syndrome hypopigmentation of the skin UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010403 MONDO:0043209 False albinism-hearing loss syndrome albinism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010403 MONDO:0100118 False albinism-hearing loss syndrome hereditary skin disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010404 MONDO:0016612 False X-linked non progressive cerebellar ataxia X-linked cerebellar ataxia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0010405 MONDO:0023122 False prostate cancer, hereditary, X-linked 2 familial prostate carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING -MONDO:0010408 MONDO:0002254 False syndactyly-telecanthus-anogenital and renal malformations syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0010408 MONDO:0015161 False syndactyly-telecanthus-anogenital and renal malformations syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010408 MONDO:0019054 False syndactyly-telecanthus-anogenital and renal malformations syndrome congenital limb malformation UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010408 MONDO:0800066 False syndactyly-telecanthus-anogenital and renal malformations syndrome polydactyly-syndactyly-triphalangism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010410 MONDO:0005339 False alopecia, androgenetic, 2 androgenetic alopecia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010412 MONDO:0020119 False X-linked intellectual disability-craniofacioskeletal syndrome X-linked syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING @@ -19613,56 +24235,29 @@ MONDO:0010414 MONDO:0800462 False myopathy, reducing body, X-linked, early-onset MONDO:0010415 MONDO:0019948 False myopathy, reducing body, X-linked, childhood-onset reducing body myopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0010415 MONDO:0800462 False myopathy, reducing body, X-linked, childhood-onset FHL1-related myopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010416 MONDO:0003847 False deafness, cataract, retinitis pigmentosa, and sperm abnormalities hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010417 MONDO:0020022 False syndromic X-linked intellectual disability Najm type central nervous system malformation UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010418 MONDO:0015149 False hereditary spastic paraplegia 34 pure hereditary spastic paraplegia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010420 MONDO:0000425 False X-linked erythropoietic protoporphyria X-linked disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010421 MONDO:0016462 False Bruton-type agammaglobulinemia isolated agammaglobulinemia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010422 MONDO:0004975 False Alzheimer disease 16 Alzheimer disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0010425 MONDO:0000763 False Lisch epithelial corneal dystrophy epithelial and subepithelial corneal dystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0010425 MONDO:0020212 False Lisch epithelial corneal dystrophy superficial corneal dystrophy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010426 MONDO:0000766 False X-linked endothelial corneal dystrophy corneal endothelial dystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0010426 MONDO:0020214 False X-linked endothelial corneal dystrophy posterior corneal dystrophy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010428 MONDO:0015159 False chromosome Xp11.23-p11.22 duplication syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010428 MONDO:0017009 False chromosome Xp11.23-p11.22 duplication syndrome partial duplication of the short arm of chromosome X UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010433 MONDO:0020573 False systemic lupus erythematosus, susceptibility to, 15 inherited disease susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010435 MONDO:0700230 False nystagmus 6, congenital, X-linked GPR143-related foveal hypoplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010436 MONDO:0010283 False chromosome Xq28 duplication syndrome syndromic X-linked intellectual disability Lubs type UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0010439 MONDO:0003847 False cardiomyopathy, fatal fetal, due to myocardial calcification hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010441 MONDO:0000508 False CK syndrome syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0010441 MONDO:0003847 False CK syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0010441 MONDO:0021147 False CK syndrome disorder of development or morphogenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010442 MONDO:0100249 False 46,XX sex reversal 3 46,XX testicular disorder of sex development UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0010443 MONDO:0015993 False macular degeneration, X-linked atrophic cone-rod dystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS MONDO:0010443 MONDO:0100437 False macular degeneration, X-linked atrophic RPGR-related retinopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010444 MONDO:0019403 False X-linked dyserythropoetic anemia with abnormal platelets and neutropenia congenital dyserythropoietic anemia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS MONDO:0010444 MONDO:0100089 False X-linked dyserythropoetic anemia with abnormal platelets and neutropenia GATA1-Related X-Linked Cytopenia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010446 MONDO:0005328 False X-linked cone dysfunction syndrome with myopia eye disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010448 MONDO:0002320 False moyamoya angiopathy-short stature-facial dysmorphism-hypergonadotropic hypogonadism syndrome congenital nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010448 MONDO:0015160 False moyamoya angiopathy-short stature-facial dysmorphism-hypergonadotropic hypogonadism syndrome multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010455 MONDO:0015131 False X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia combined immunodeficiency UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0010456 MONDO:0003008 False renal cell carcinoma, Xp11-associated hereditary renal cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010456 MONDO:0017886 False renal cell carcinoma, Xp11-associated MIT family translocation renal cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010457 MONDO:0015333 False Ogden syndrome progeroid syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0010457 MONDO:0100124 False Ogden syndrome NAA10-related syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010463 MONDO:0002254 False X-linked dominant chondrodysplasia, Chassaing-Lacombe type syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0010463 MONDO:0003847 False X-linked dominant chondrodysplasia, Chassaing-Lacombe type hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0010464 MONDO:0020022 False X-linked cerebral-cerebellar-coloboma syndrome syndrome central nervous system malformation UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010466 MONDO:0002320 False multiple congenital anomalies-hypotonia-seizures syndrome 2 congenital nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0010466 MONDO:0015327 False multiple congenital anomalies-hypotonia-seizures syndrome 2 developmental anomaly of metabolic origin UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010466 MONDO:0015905 False multiple congenital anomalies-hypotonia-seizures syndrome 2 syndromic dyslipidemia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010466 MONDO:0017748 False multiple congenital anomalies-hypotonia-seizures syndrome 2 inborn disorder of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010467 MONDO:0017010 False Xq27.3q28 duplication syndrome partial duplication of the long arm of chromosome X UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010471 MONDO:0019713 False Cornelia de Lange syndrome 5 non-syndromic limb reduction defect UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010472 MONDO:0002320 False developmental and epileptic encephalopathy, 36 congenital nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0010472 MONDO:0017740 False developmental and epileptic encephalopathy, 36 disorder of protein N-glycosylation UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010475 MONDO:0000425 False X-linked central congenital hypothyroidism with late-onset testicular enlargement X-linked disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0010475 MONDO:0016410 False X-linked central congenital hypothyroidism with late-onset testicular enlargement central congenital hypothyroidism UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010477 MONDO:0000734 False blepharophimosis - intellectual disability syndrome, MKB type Ohdo syndrome and variants UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010477 MONDO:0002320 False blepharophimosis - intellectual disability syndrome, MKB type congenital nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010477 MONDO:0100000 False blepharophimosis - intellectual disability syndrome, MKB type MED12-related intellectual disability syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010478 MONDO:0015327 False SLC35A2-congenital disorder of glycosylation developmental anomaly of metabolic origin UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010478 MONDO:0017749 False SLC35A2-congenital disorder of glycosylation disorder of multiple glycosylation UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010479 MONDO:0018994 False Charcot-Marie-Tooth disease X-linked dominant 6 Charcot-Marie-Tooth disease type X UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0010480 MONDO:0000105 False anemia, nonspherocytic hemolytic, due to G6PD deficiency anemia, nonspherocytic hemolytic UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010480 MONDO:0019231 False anemia, nonspherocytic hemolytic, due to G6PD deficiency inborn disorder of pentose phosphate metabolism UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010480 MONDO:0020585 False anemia, nonspherocytic hemolytic, due to G6PD deficiency anemia due to erythrocyte enzyme disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -19671,58 +24266,26 @@ MONDO:0010481 MONDO:0019293 False angioedema skin vascular disease UNSUPPORTED-M MONDO:0010482 MONDO:0021095 False X-linked parkinsonism-spasticity syndrome parkinsonian disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0010482 MONDO:0100146 False X-linked parkinsonism-spasticity syndrome ATP6AP2-related disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010483 MONDO:0020119 False X-linked intellectual disability, Cantagrel type X-linked syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS -MONDO:0010484 MONDO:0019586 False hearing loss, X-linked 6 X-linked nonsyndromic hearing loss UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0010485 MONDO:0000425 False X-linked colobomatous microphthalmia-microcephaly-intellectual disability-short stature syndrome X-linked disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0010485 MONDO:0015159 False X-linked colobomatous microphthalmia-microcephaly-intellectual disability-short stature syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010490 MONDO:0015159 False SSR4-congenital disorder of glycosylation multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010490 MONDO:0015327 False SSR4-congenital disorder of glycosylation developmental anomaly of metabolic origin UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010490 MONDO:0017740 False SSR4-congenital disorder of glycosylation disorder of protein N-glycosylation UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010491 MONDO:0000425 False X-linked acrogigantism due to Xq26 microduplication X-linked disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010491 MONDO:0017010 False X-linked acrogigantism due to Xq26 microduplication partial duplication of the long arm of chromosome X UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010496 MONDO:0002320 False X-linked intellectual disability-short stature-overweight syndrome congenital nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0010496 MONDO:0015159 False X-linked intellectual disability-short stature-overweight syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010496 MONDO:0020119 False X-linked intellectual disability-short stature-overweight syndrome X-linked syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS MONDO:0010497 MONDO:0019181 False intellectual disability, X-linked 102 non-syndromic X-linked intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING -MONDO:0010498 MONDO:0019240 False MEND syndrome sterol biosynthesis disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010501 MONDO:0002320 False syndromic X-linked intellectual disability 34 congenital nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0010501 MONDO:0015159 False syndromic X-linked intellectual disability 34 multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010502 MONDO:0020119 False intellectual disability, X-linked 99, syndromic, female-restricted X-linked syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS -MONDO:0010504 MONDO:0003778 False immunodeficiency 47 inborn error of immunity UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0010505 MONDO:0015159 False intellectual disability-balding-patella luxation-acromicria syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010505 MONDO:0019695 False intellectual disability-balding-patella luxation-acromicria syndrome acromelic dysplasia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010507 MONDO:0017010 False Xq25 microduplication syndrome partial duplication of the long arm of chromosome X UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010514 MONDO:0003778 False combined immunodeficiency due to moesin deficiency inborn error of immunity UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0010515 MONDO:0002254 False Meester-Loeys syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0010515 MONDO:0003847 False Meester-Loeys syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0010516 MONDO:0003847 False midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0010516 MONDO:0010263 False midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS -MONDO:0010518 MONDO:0000425 False Wiskott-Aldrich syndrome X-linked disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0010518 MONDO:0021181 False Wiskott-Aldrich syndrome inherited blood coagulation disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010518 MONDO:0015131 False Wiskott-Aldrich syndrome combined immunodeficiency UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0010518 MONDO:0060782 False Wiskott-Aldrich syndrome premalignant hematological system disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010519 MONDO:0016980 False alpha thalassemia-X-linked intellectual disability syndrome ATR-X-related syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010519 MONDO:0020040 False alpha thalassemia-X-linked intellectual disability syndrome 46,XY disorder of sex development UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010520 MONDO:0000425 False X-linked Alport syndrome X-linked disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0010521 MONDO:0015048 False amelogenesis imperfecta type 1E amelogenesis imperfecta type 2 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010523 MONDO:0002254 False X-linked reticulate pigmentary disorder syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0010523 MONDO:0100118 False X-linked reticulate pigmentary disorder hereditary skin disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010524 MONDO:0016612 False X-linked sideroblastic anemia with ataxia X-linked cerebellar ataxia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0010524 MONDO:0020099 False X-linked sideroblastic anemia with ataxia inherited sideroblastic anemia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0010524 MONDO:0044970 False X-linked sideroblastic anemia with ataxia mitochondrial disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010525 MONDO:0019351 False neural tube defects, X-linked isolated spina bifida UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010526 MONDO:0015327 False Fabry disease developmental anomaly of metabolic origin UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010528 MONDO:0002436 False anosmia nasal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010529 MONDO:0016612 False X-linked spinocerebellar ataxia type 3 X-linked cerebellar ataxia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0010531 MONDO:0019287 False contractures-ectodermal dysplasia-cleft lip/palate syndrome ectodermal dysplasia syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING -MONDO:0010532 MONDO:0001516 False infantile-onset X-linked spinal muscular atrophy spinal muscular atrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0010532 MONDO:0002320 False infantile-onset X-linked spinal muscular atrophy congenital nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0010532 MONDO:0015168 False infantile-onset X-linked spinal muscular atrophy arthrogryposis multiplex congenita UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS -MONDO:0010532 MONDO:0024257 False infantile-onset X-linked spinal muscular atrophy hereditary motor neuron disease UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010533 MONDO:0002254 False Arts syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0010533 MONDO:0003847 False Arts syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0010534 MONDO:0016612 False X-linked spinocerebellar ataxia type 4 X-linked cerebellar ataxia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0010535 MONDO:0005093 False Bazex-Dupre-Christol syndrome skin disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010536 MONDO:0003847 False tubulin, beta hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010538 MONDO:0019054 False Mononen-Karnes-Senac syndrome congenital limb malformation UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010539 MONDO:0000425 False X-linked mandibulofacial dysostosis X-linked disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010539 MONDO:0002254 False X-linked mandibulofacial dysostosis syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010539 MONDO:0015483 False X-linked mandibulofacial dysostosis mandibulofacial dysostosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -19730,47 +24293,25 @@ MONDO:0010539 MONDO:0018751 False X-linked mandibulofacial dysostosis hereditary MONDO:0010540 MONDO:0003847 False bullous dystrophy, macular type hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010541 MONDO:0002185 False X-linked calvarial hyperostosis hyperostosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010542 MONDO:0016147 False dilated cardiomyopathy 3B qualitative or quantitative defects of dystrophin UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010543 MONDO:0009637 False Barth syndrome inborn mitochondrial myopathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0010543 MONDO:0015134 False Barth syndrome constitutional neutropenia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010543 MONDO:0015905 False Barth syndrome syndromic dyslipidemia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010543 MONDO:0016333 False Barth syndrome familial dilated cardiomyopathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING -MONDO:0010543 MONDO:0018117 False Barth syndrome disorder of phospholipids, sphingolipids and fatty acids biosynthesis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010544 MONDO:0011060 False cataract 40 early-onset non-syndromic cataract UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING -MONDO:0010545 MONDO:0003847 False Nance-Horan syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0010545 MONDO:0021147 False Nance-Horan syndrome disorder of development or morphogenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010546 MONDO:0003847 False central incisors, absence of hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010547 MONDO:0016612 False X-linked progressive cerebellar ataxia X-linked cerebellar ataxia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0010548 MONDO:0016612 False spinocerebellar ataxia, X-linked 2 X-linked cerebellar ataxia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0010549 MONDO:0018994 False Charcot-Marie-Tooth disease X-linked dominant 1 Charcot-Marie-Tooth disease type X UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0010550 MONDO:0018994 False Charcot-Marie-Tooth disease X-linked recessive 2 Charcot-Marie-Tooth disease type X UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0010551 MONDO:0018994 False Charcot-Marie-Tooth disease X-linked recessive 3 Charcot-Marie-Tooth disease type X UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0010552 MONDO:0003847 False Charcot-Marie-Tooth peroneal muscular atrophy, X-linked, with aplasia cutis congenita hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010553 MONDO:0003847 False Charcot-Marie-Tooth peroneal muscular atrophy and Friedreich ataxia, combined hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010554 MONDO:0002254 False Abruzzo-Erickson syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0010554 MONDO:0003847 False Abruzzo-Erickson syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0010554 MONDO:0015161 False Abruzzo-Erickson syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010555 MONDO:0010556 False X-linked chondrodysplasia punctata 1 X-linked chondrodysplasia punctata UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010556 MONDO:0000425 False X-linked chondrodysplasia punctata X-linked disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0010556 MONDO:0015775 False X-linked chondrodysplasia punctata non-rhizomelic chondrodysplasia punctata UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010556 MONDO:0019240 False X-linked chondrodysplasia punctata sterol biosynthesis disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010557 MONDO:0000425 False choroideremia X-linked disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0010557 MONDO:0001898 False choroideremia optic choroid disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0010557 MONDO:0019118 False choroideremia inherited retinal dystrophy UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0010557 MONDO:0043218 False choroideremia neurovascular disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010558 MONDO:0019118 False choroideremia-deafness-obesity syndrome inherited retinal dystrophy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010559 MONDO:0015150 False MASA syndrome complex hereditary spastic paraplegia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010559 MONDO:0017140 False MASA syndrome L1 syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010560 MONDO:0016064 False cleft palate with or without ankyloglossia, X-linked cleft palate UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0010561 MONDO:0020119 False Coffin-Lowry syndrome X-linked syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS MONDO:0010562 MONDO:0021147 False colonic atresia disorder of development or morphogenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010563 MONDO:0018852 False blue cone monochromacy achromatopsia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0010563 MONDO:0020605 False blue cone monochromacy X-linked recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0010563 MONDO:0021155 False blue cone monochromacy X-linked cone-rod dystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010564 MONDO:0000014 False red-green color blindness colorblindness, partial UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010564 MONDO:0003847 False red-green color blindness hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0010565 MONDO:0001703 False red color blindness color vision disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0010565 MONDO:0003847 False red color blindness hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0010565 MONDO:0005328 False red color blindness eye disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0010566 MONDO:0021155 False X-linked cone-rod dystrophy 1 X-linked cone-rod dystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010566 MONDO:0100437 False X-linked cone-rod dystrophy 1 RPGR-related retinopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010567 MONDO:0000425 False cone dystrophy, X-linked, with tapetal-like sheen X-linked disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -19778,165 +24319,107 @@ MONDO:0010567 MONDO:0000455 False cone dystrophy, X-linked, with tapetal-like sh MONDO:0010568 MONDO:0021147 False Aicardi syndrome disorder of development or morphogenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010568 MONDO:0700092 False Aicardi syndrome neurodevelopmental disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010569 MONDO:0003847 False X-linked complicated corpus callosum dysgenesis hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010569 MONDO:0017140 False X-linked complicated corpus callosum dysgenesis L1 syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010570 MONDO:0002254 False craniofrontonasal syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0010570 MONDO:0018230 False craniofrontonasal syndrome skeletal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010570 MONDO:0021635 False craniofrontonasal syndrome neurocristopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010571 MONDO:0019027 False otopalatodigital syndrome type 2 otopalatodigital syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010572 MONDO:0015160 False occipital horn syndrome multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010572 MONDO:0015327 False occipital horn syndrome developmental anomaly of metabolic origin UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010572 MONDO:0017762 False occipital horn syndrome disorder of copper metabolism UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010572 MONDO:0100237 False occipital horn syndrome inherited cutis laxa UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0010573 MONDO:0003847 False cutis verticis gyrata, thyroid aplasia, and intellectual disability hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010574 MONDO:0002320 False syndromic X-linked intellectual disability 5 congenital nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0010574 MONDO:0015159 False syndromic X-linked intellectual disability 5 multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010574 MONDO:0020022 False syndromic X-linked intellectual disability 5 central nervous system malformation UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010575 MONDO:0002254 False deafness-hypogonadism syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010576 MONDO:0002467 False X-linked mixed hearing loss with perilymphatic gusher inner ear disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0010576 MONDO:0018751 False X-linked mixed hearing loss with perilymphatic gusher hereditary otorhinolaryngologic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010576 MONDO:0019586 False X-linked mixed hearing loss with perilymphatic gusher X-linked nonsyndromic hearing loss UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0010577 MONDO:0019586 False hearing loss, X-linked 1 X-linked nonsyndromic hearing loss UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0010578 MONDO:0024237 False deafness dystonia syndrome inherited neurodegenerative disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010579 MONDO:0000942 False X-linked corneal dermoid corneal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010579 MONDO:0002254 False X-linked corneal dermoid syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010580 MONDO:0000569 False immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome autoimmune disorder of endocrine system UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0010580 MONDO:0000605 False immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome hypersensitivity reaction disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0010580 MONDO:0003847 False immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0010580 MONDO:0015126 False immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome polyendocrinopathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010580 MONDO:0019787 False immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome autoimmune enteropathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010581 MONDO:0000425 False diabetes insipidus, nephrogenic, X-linked X-linked disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0010581 MONDO:0016383 False diabetes insipidus, nephrogenic, X-linked nephrogenic diabetes insipidus UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0010580 MONDO:0002254 False immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0010583 MONDO:0000425 False Dyggve-Melchior-Clausen syndrome, X-linked X-linked disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010583 MONDO:0009130 False Dyggve-Melchior-Clausen syndrome, X-linked Dyggve-Melchior-Clausen disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING -MONDO:0010584 MONDO:0000425 False dyskeratosis congenita, X-linked X-linked disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0010584 MONDO:0100152 False dyskeratosis congenita, X-linked DKC1-related disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010585 MONDO:0000425 False X-linked hypohidrotic ectodermal dysplasia X-linked disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0010585 MONDO:0016535 False X-linked hypohidrotic ectodermal dysplasia hypohidrotic ectodermal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0010586 MONDO:0000425 False X-linked Ehlers-Danlos syndrome X-linked disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010587 MONDO:0000425 False epidermodysplasia verruciformis, X-linked X-linked disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010587 MONDO:0009176 False epidermodysplasia verruciformis, X-linked epidermodysplasia verruciformis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010588 MONDO:0000425 False exudative vitreoretinopathy 2, X-linked X-linked disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0010589 MONDO:0000425 False Aarskog-Scott syndrome, X-linked X-linked disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0010589 MONDO:0021005 False Aarskog-Scott syndrome, X-linked faciodigitogenital syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0010589 MONDO:0002010 False Aarskog-Scott syndrome, X-linked FG syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS MONDO:0010590 MONDO:0002010 False FG syndrome 1 FG syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0010590 MONDO:0100000 False FG syndrome 1 MED12-related intellectual disability syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010591 MONDO:0019952 False fingerprint body myopathy congenital myopathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING -MONDO:0010592 MONDO:0019755 False focal dermal hypoplasia developmental defect during embryogenesis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010592 MONDO:0020119 False focal dermal hypoplasia X-linked syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS MONDO:0010595 MONDO:0004983 False Sertoli cell-only syndrome spermatogenic failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0010596 MONDO:0018904 False membranoproliferative glomerulonephritis, X-linked primary membranoproliferative glomerulonephritis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010597 MONDO:0003847 False glutamyl ribose-5-phosphate storage disease hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010598 MONDO:0020693 False glycogen storage disease IXa1 glycogen storage disease due to liver phosphorylase kinase deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010599 MONDO:0003847 False granulomas, congenital cerebral hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010602 MONDO:0000425 False hemophilia A X-linked disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0010602 MONDO:0002243 False hemophilia A hemorrhagic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0010602 MONDO:0021181 False hemophilia A inherited blood coagulation disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010603 MONDO:0010602 False hemophilia A with vascular abnormality hemophilia A UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0010604 MONDO:0002243 False hemophilia B hemorrhagic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0010604 MONDO:0021181 False hemophilia B inherited blood coagulation disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010605 MONDO:0003847 False hemopoietic proliferation hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010606 MONDO:0005711 False hernia, anterior diaphragmatic congenital diaphragmatic hernia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0010608 MONDO:0003847 False Hhhh syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010610 MONDO:0002320 False holoprosencephaly-hypokinesia-congenital contractures syndrome congenital nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010610 MONDO:0020022 False holoprosencephaly-hypokinesia-congenital contractures syndrome central nervous system malformation UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010611 MONDO:0000425 False X-linked hydrocephalus with stenosis of the aqueduct of Sylvius X-linked disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010611 MONDO:0017140 False X-linked hydrocephalus with stenosis of the aqueduct of Sylvius L1 syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010612 MONDO:0002254 False hydrocephaly-cerebellar agenesis syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010613 MONDO:0019052 False inborn glycerol kinase deficiency inborn errors of metabolism UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0010614 MONDO:0016381 False X-linked congenital generalized hypertrichosis hypertrichosis lanuginosa congenita UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING -MONDO:0010617 MONDO:0015159 False male hypergonadotropic hypogonadism-intellectual disability-skeletal anomalies syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010618 MONDO:0007796 False familial isolated hypoparathyroidism due to agenesis of parathyroid gland hypoparathyroidism, familial isolated 1 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING -MONDO:0010619 MONDO:0020604 False X-linked dominant hypophosphatemic rickets X-linked dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0010619 MONDO:0020720 False X-linked dominant hypophosphatemic rickets X-linked hypophosphatemic rickets UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010619 MONDO:0800096 False X-linked dominant hypophosphatemic rickets abnormal mineralization disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010620 MONDO:0009071 False hypouricemia, familial renal, due to tubular hypersecretion hereditary renal hypouricemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010621 MONDO:0000631 False CHILD syndrome bone benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0010621 MONDO:0005073 False CHILD syndrome melanocytic nevus UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010621 MONDO:0015161 False CHILD syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010621 MONDO:0015905 False CHILD syndrome syndromic dyslipidemia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010621 MONDO:0017269 False CHILD syndrome X-linked ichthyosis syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010621 MONDO:0019240 False CHILD syndrome sterol biosynthesis disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010621 MONDO:0019701 False CHILD syndrome chondrodysplasia punctata UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0010621 MONDO:0023603 False CHILD syndrome hereditary disorder of connective tissue UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010621 MONDO:0100118 False CHILD syndrome hereditary skin disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010621 MONDO:0700245 False CHILD syndrome syndromic disorder of cell proliferation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010622 MONDO:0015947 False recessive X-linked ichthyosis inherited ichthyosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010622 MONDO:0019256 False recessive X-linked ichthyosis sterol metabolism disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010622 MONDO:0020605 False recessive X-linked ichthyosis X-linked recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0010623 MONDO:0003847 False ichthyosis and male hypogonadism hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010625 MONDO:0003778 False immunodeficiency, X-linked, with deficiency of 115,000 Dalton surface glycoprotein inborn error of immunity UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010626 MONDO:0000425 False hyper-IgM syndrome type 1 X-linked disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0010627 MONDO:0000425 False X-linked lymphoproliferative syndrome X-linked disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0010627 MONDO:0015541 False X-linked lymphoproliferative syndrome hereditary hemophagocytic lymphohistiocytosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010627 MONDO:0016537 False X-linked lymphoproliferative syndrome lymphoproliferative syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0010627 MONDO:0021094 False X-linked lymphoproliferative syndrome immunodeficiency disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010628 MONDO:0003847 False immunoglobulin M, level of hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010629 MONDO:0003847 False impacted teeth, multiple hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010630 MONDO:0003847 False imprinting gene related to retinoblastoma hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010631 MONDO:0019287 False incontinentia pigmenti ectodermal dysplasia syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS MONDO:0010631 MONDO:0020247 False incontinentia pigmenti congenital vitreoretinal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010632 MONDO:0018097 False developmental and epileptic encephalopathy, 1 West syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0010633 MONDO:0005283 False iris hypoplasia with glaucoma retinal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010633 MONDO:0018174 False iris hypoplasia with glaucoma hereditary glaucoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010634 MONDO:0003847 False jaundice, familial obstructive, of infancy hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010635 MONDO:0018800 False hypogonadotropic hypogonadism 1 with or without anosmia Kallmann syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0010636 MONDO:0003847 False Kallmann syndrome with spastic paraplegia hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010637 MONDO:0000136 False keratosis follicularis spinulosa decalvans, X-linked keratosis follicularis spinulosa decalvans UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0010638 MONDO:0002254 False keratosis follicularis-dwarfism-cerebral atrophy syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010639 MONDO:0002254 False laryngeal abductor paralysis-intellectual disability syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010640 MONDO:0020573 False Leber optic atrophy, susceptibility to inherited disease susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010641 MONDO:0005240 False X-linked diffuse leiomyomatosis-Alport syndrome kidney disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010641 MONDO:0017007 False X-linked diffuse leiomyomatosis-Alport syndrome partial deletion of the long arm of chromosome X UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010642 MONDO:0010298 False Lesch-Nyhan phenotype with normal HGPRT Lesch-Nyhan syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0010643 MONDO:0020683 False acute leukemia acute disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010644 MONDO:0003634 False proteinuria, low molecular weight, with hypercalciuria and nephrocalcinosis proteinuria UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0010644 MONDO:0100191 False proteinuria, low molecular weight, with hypercalciuria and nephrocalcinosis inherited kidney disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010645 MONDO:0005328 False oculocerebrorenal syndrome eye disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0010645 MONDO:0015962 False oculocerebrorenal syndrome inherited renal tubular disease UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010645 MONDO:0019216 False oculocerebrorenal syndrome inborn disorder of amino acid transport UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010646 MONDO:0000425 False macular dystrophy, X-linked X-linked disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010646 MONDO:0020242 False macular dystrophy, X-linked hereditary macular dystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010648 MONDO:0000693 False major affective disorder 2 bipolar II disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010648 MONDO:0003847 False major affective disorder 2 hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010649 MONDO:0009576 False isolated congenital megalocornea megalocornea UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING -MONDO:0010650 MONDO:0018233 False Melnick-Needles syndrome otopalatodigital syndrome spectrum disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0010650 MONDO:0020119 False Melnick-Needles syndrome X-linked syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS -MONDO:0010651 MONDO:0004689 False Menkes disease inborn metal metabolism disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0010651 MONDO:0017762 False Menkes disease disorder of copper metabolism UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010651 MONDO:0002254 False Menkes disease syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0010652 MONDO:0020119 False X-linked intellectual disability-seizures-psoriasis syndrome X-linked syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0010655 MONDO:0002320 False X-linked intellectual disability with marfanoid habitus congenital nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0010655 MONDO:0015159 False X-linked intellectual disability with marfanoid habitus multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010655 MONDO:0100000 False X-linked intellectual disability with marfanoid habitus MED12-related intellectual disability syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010659 MONDO:0019181 False FRAXE intellectual disability non-syndromic X-linked intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS -MONDO:0010661 MONDO:0020119 False severe X-linked intellectual disability, Gustavson type X-linked syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS MONDO:0010662 MONDO:0002254 False paraplegia-intellectual disability-hyperkeratosis syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010663 MONDO:0016980 False intellectual disability-hypotonic facies syndrome, X-linked, 1 ATR-X-related syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010664 MONDO:0800159 False syndromic X-linked intellectual disability Snyder type disorder of polyamine metabolism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010668 MONDO:0019694 False skeletal dysplasia-intellectual disability syndrome spondylodysplastic dysplasia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010668 MONDO:0020119 False skeletal dysplasia-intellectual disability syndrome X-linked syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING -MONDO:0010669 MONDO:0019530 False syndactyly type 8 non-syndromic syndactyly UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010670 MONDO:0020119 False X-linked intellectual disability-spastic quadriparesis syndrome X-linked syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0010671 MONDO:0100124 False microphthalmia, syndromic 1 NAA10-related syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010672 MONDO:0016073 False linear skin defects with multiple congenital anomalies syndromic microphthalmia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS -MONDO:0010672 MONDO:0019294 False linear skin defects with multiple congenital anomalies mixed dermis disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010672 MONDO:0100118 False linear skin defects with multiple congenital anomalies hereditary skin disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010673 MONDO:0003847 False modifier, X-linked, for Neurofunctional defects hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010674 MONDO:0800088 False mucopolysaccharidosis type 2 lysosomal storage disease with skeletal involvement UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010674 MONDO:0002254 False mucopolysaccharidosis type 2 syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0010675 MONDO:0020121 False muscular dystrophy, cardiac type muscular dystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010676 MONDO:0020121 False muscular dystrophy, Hemizygous lethal type muscular dystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010677 MONDO:0020121 False muscular dystrophy, Mabry type muscular dystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010678 MONDO:0020121 False muscular dystrophy, progressive Pectorodorsal muscular dystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010680 MONDO:0000425 False X-linked Emery-Dreifuss muscular dystrophy X-linked disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010680 MONDO:0016830 False X-linked Emery-Dreifuss muscular dystrophy Emery-Dreifuss muscular dystrophy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010680 MONDO:0021106 False X-linked Emery-Dreifuss muscular dystrophy laminopathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010681 MONDO:0003847 False myelolymphatic insufficiency hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010683 MONDO:0000425 False X-linked myotubular myopathy X-linked disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0010684 MONDO:0016106 False X-linked myopathy with excessive autophagy progressive muscular dystrophy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010684 MONDO:0016112 False X-linked myopathy with excessive autophagy hereditary inclusion-body myopathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010686 MONDO:0015159 False N syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010686 MONDO:0015356 False N syndrome hereditary neoplastic syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010687 MONDO:0008171 False nephrolithiasis, X-linked recessive, with renal failure nephrolithiasis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010687 MONDO:0100191 False nephrolithiasis, X-linked recessive, with renal failure inherited kidney disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010688 MONDO:0015364 False hereditary sensory neuropathy X-linked hereditary sensory and autonomic neuropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS -MONDO:0010689 MONDO:0018994 False Charcot-Marie-Tooth disease X-linked recessive 4 Charcot-Marie-Tooth disease type X UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0010690 MONDO:0044749 False congenital stationary night blindness 1A X-linked congenital stationary night blindness UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010690 MONDO:0800407 False congenital stationary night blindness 1A NYX-related retinopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010691 MONDO:0020247 False Norrie disease congenital vitreoretinal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -19946,69 +24429,48 @@ MONDO:0010695 MONDO:0003847 False occipital hair, white lock of hereditary disea MONDO:0010696 MONDO:0003847 False omphalocele, X-linked hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010696 MONDO:0019015 False omphalocele, X-linked omphalocele UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010697 MONDO:0003847 False ophthalmoplegia, external, and myopia hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010699 MONDO:0018994 False Charcot-Marie-Tooth disease X-linked recessive 5 Charcot-Marie-Tooth disease type X UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0010699 MONDO:0019236 False Charcot-Marie-Tooth disease X-linked recessive 5 inborn disorder of purine metabolism UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010700 MONDO:0003847 False optic atrophy--spastic paraplegia syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010702 MONDO:0005308 False orofaciodigital syndrome I ciliopathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0010702 MONDO:0100500 False orofaciodigital syndrome I Mendelian neurodevelopmental disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010703 MONDO:0800153 False ornithine carbamoyltransferase deficiency urea cycle disorder or inherited hyperammonemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010704 MONDO:0002254 False otopalatodigital syndrome type 1 syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0010704 MONDO:0019027 False otopalatodigital syndrome type 1 otopalatodigital syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010707 MONDO:0003847 False Paine syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010708 MONDO:0002254 False Pallister-W syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010709 MONDO:0020119 False early-onset parkinsonism-intellectual disability syndrome X-linked syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS MONDO:0010709 MONDO:0021095 False early-onset parkinsonism-intellectual disability syndrome parkinsonian disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0010710 MONDO:0003847 False Pierre Robin syndrome-faciodigital anomaly syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010711 MONDO:0003847 False TARP syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0010711 MONDO:0005267 False TARP syndrome heart disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0010712 MONDO:0019591 False panhypopituitarism, X-linked panhypopituitarism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0010713 MONDO:0003778 False properdin deficiency, X-linked inborn error of immunity UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0010716 MONDO:0000425 False X-linked lethal multiple pterygium syndrome X-linked disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010716 MONDO:0009668 False X-linked lethal multiple pterygium syndrome lethal multiple pterygium syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0010718 MONDO:0003847 False absent radius-anogenital anomalies syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010718 MONDO:0018234 False absent radius-anogenital anomalies syndrome dysostosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010718 MONDO:0019054 False absent radius-anogenital anomalies syndrome congenital limb malformation UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010719 MONDO:0003847 False radiation sensitivity of natural killer activity hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010721 MONDO:0003847 False reticuloendotheliosis, X-linked hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010722 MONDO:0019118 False X-linked retinal dysplasia inherited retinal dystrophy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010723 MONDO:0100442 False retinitis pigmentosa 2 RP2-related retinopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010725 MONDO:0000425 False X-linked retinoschisis X-linked disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0010725 MONDO:0004579 False X-linked retinoschisis retinoschisis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0010725 MONDO:0019118 False X-linked retinoschisis inherited retinal dystrophy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0010725 MONDO:0020248 False X-linked retinoschisis vitreoretinal degeneration UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010726 MONDO:0000594 False Rett syndrome pervasive developmental disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0010726 MONDO:0002254 False Rett syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0010726 MONDO:0100500 False Rett syndrome Mendelian neurodevelopmental disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010727 MONDO:0008394 False Russell-silver syndrome, X-linked Silver-Russell syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0010728 MONDO:0002254 False SCARF syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010729 MONDO:0020119 False X-linked intellectual disability, Schimke type X-linked syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0010730 MONDO:0044200 False combined immunodeficiency, X-linked T-B+ severe combined immunodeficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010731 MONDO:0019716 False Simpson-Golabi-Behmel syndrome overgrowth syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010732 MONDO:0003847 False spastic paraparesis-deafness syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0010733 MONDO:0019046 False hereditary spastic paraplegia 2 leukodystrophy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS +MONDO:0010731 MONDO:0002254 False Simpson-Golabi-Behmel syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010734 MONDO:0003847 False spatial visualization, aptitude for hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010735 MONDO:0024237 False Kennedy disease inherited neurodegenerative disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010737 MONDO:0000425 False spondyloepiphyseal dysplasia tarda, X-linked X-linked disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0010737 MONDO:0019667 False spondyloepiphyseal dysplasia tarda, X-linked spondyloepiphyseal dysplasia tarda UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0010739 MONDO:0003847 False Taqi polymorphism hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010740 MONDO:0003847 False taurodontism, microdontia, and dens invaginatus hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010742 MONDO:0015161 False pentalogy of Cantrell multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010744 MONDO:0003847 False thrombocytopenia with elevated serum IgA and renal disease hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010745 MONDO:0017145 False beta-thalassemia-X-linked thrombocytopenia syndrome beta-thalassemia and related diseases UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010745 MONDO:0100089 False beta-thalassemia-X-linked thrombocytopenia syndrome GATA1-Related X-Linked Cytopenia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010746 MONDO:0003847 False thumbs, congenital Clasped hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010747 MONDO:0000477 False X-linked dystonia-parkinsonism focal dystonia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0010747 MONDO:0020065 False X-linked dystonia-parkinsonism combined dystonia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010747 MONDO:0021095 False X-linked dystonia-parkinsonism parkinsonian disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0010748 MONDO:0002254 False torticollis-keloids-cryptorchidism-renal dysplasia syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010748 MONDO:0021147 False torticollis-keloids-cryptorchidism-renal dysplasia syndrome disorder of development or morphogenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010749 MONDO:0002254 False trigonocephaly-short stature-developmental delay syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010750 MONDO:0002254 False ulnar hypoplasia-split foot syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010750 MONDO:0003847 False ulnar hypoplasia-split foot syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010750 MONDO:0018234 False ulnar hypoplasia-split foot syndrome dysostosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010750 MONDO:0019054 False ulnar hypoplasia-split foot syndrome congenital limb malformation UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010751 MONDO:0003847 False unique green phenomenon hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010752 MONDO:0008642 False VACTERL association, X-linked, with or without hydrocephalus VACTERL/vater association UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS MONDO:0010752 MONDO:0010172 False VACTERL association, X-linked, with or without hydrocephalus VACTERL with hydrocephalus UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING -MONDO:0010753 MONDO:0003847 False cardiac valvular dysplasia, X-linked hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0010753 MONDO:0020289 False cardiac valvular dysplasia, X-linked congenital tricuspid malformation UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010754 MONDO:0002254 False van den Bosch syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010755 MONDO:0017329 False vesicoureteral reflux, X-linked familial vesicoureteral reflux UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING @@ -20019,9 +24481,7 @@ MONDO:0010758 MONDO:0100500 False Wieacker-Wolff syndrome Mendelian neurodevelop MONDO:0010759 MONDO:0001029 False Wildervanck syndrome Klippel-Feil syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0010759 MONDO:0002254 False Wildervanck syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010760 MONDO:0003847 False XH antigen hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010761 MONDO:0000428 False retinitis pigmentosa Y-linked Y-linked disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0010762 MONDO:0004952 False lymphoma, Hodgkin, Y-linked pseudoautosomal Hodgkins lymphoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010763 MONDO:0010595 False spermatogenic failure, Y-linked, 1 Sertoli cell-only syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0010763 MONDO:0015607 False spermatogenic failure, Y-linked, 1 partial chromosome Y deletion UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010765 MONDO:0021147 False 46,XY complete gonadal dysgenesis disorder of development or morphogenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010765 MONDO:0024573 False 46,XY complete gonadal dysgenesis familial hypertrophic cardiomyopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS @@ -20033,140 +24493,82 @@ MONDO:0010768 MONDO:0005853 False gonadoblastoma malignant mixed neoplasm UNSUPP MONDO:0010768 MONDO:0006055 False gonadoblastoma sex cord-stromal tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0010769 MONDO:0003847 False hairy ears, Y-linked hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010770 MONDO:0003847 False ubiquitin-activating enzyme, Y-linked hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010771 MONDO:0004069 False histiocytoid cardiomyopathy inborn mitochondrial metabolism disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0010771 MONDO:0016333 False histiocytoid cardiomyopathy familial dilated cardiomyopathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0010772 MONDO:0010788 False Leber optic atrophy and dystonia Leber hereditary optic neuropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS -MONDO:0010772 MONDO:0020478 False Leber optic atrophy and dystonia Leber plus disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0010773 MONDO:0009637 False mitochondrial myopathy with diabetes inborn mitochondrial myopathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010774 MONDO:0010080 False striatonigral degeneration, infantile, mitochondrial familial infantile bilateral striatal necrosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING -MONDO:0010775 MONDO:0019501 False retinitis pigmentosa-deafness syndrome Usher syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS MONDO:0010776 MONDO:0003847 False hypomagnesemia, hypertension, and hypercholesterolemia, mitochondrial hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010777 MONDO:0003847 False cardiomyopathy, infantile hypertrophic hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0010778 MONDO:0003847 False cyclic vomiting syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010778 MONDO:0100070 False cyclic vomiting syndrome neuroendocrine disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010779 MONDO:0016297 False mitochondrial non-syndromic sensorineural hearing loss prelingual non-syndromic genetic hearing loss UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010779 MONDO:0016298 False mitochondrial non-syndromic sensorineural hearing loss postlingual non-syndromic genetic hearing loss UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010779 MONDO:0016387 False mitochondrial non-syndromic sensorineural hearing loss mitochondrial oxidative phosphorylation disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010780 MONDO:0009637 False mitochondrial myopathy with reversible cytochrome C oxidase deficiency inborn mitochondrial myopathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010781 MONDO:0021190 False ataxia and polyneuropathy, adult-onset DNA repair disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010782 MONDO:0000863 False myopathy, lactic acidosis, and sideroblastic anemia 3 myopathy, lactic acidosis, and sideroblastic anemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS MONDO:0010784 MONDO:0003847 False chloramphenicol toxicity hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010785 MONDO:0015967 False maternally-inherited diabetes and deafness monogenic diabetes UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010785 MONDO:0016387 False maternally-inherited diabetes and deafness mitochondrial oxidative phosphorylation disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010786 MONDO:0005020 False chronic diarrhea with villous atrophy intestinal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010786 MONDO:0016387 False chronic diarrhea with villous atrophy mitochondrial oxidative phosphorylation disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010787 MONDO:0002254 False Kearns-Sayre syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0010787 MONDO:0002320 False Kearns-Sayre syndrome congenital nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0010787 MONDO:0005181 False Kearns-Sayre syndrome progressive external ophthalmoplegia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0010787 MONDO:0016333 False Kearns-Sayre syndrome familial dilated cardiomyopathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING -MONDO:0010787 MONDO:0016387 False Kearns-Sayre syndrome mitochondrial oxidative phosphorylation disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010787 MONDO:0020127 False Kearns-Sayre syndrome hereditary peripheral neuropathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010787 MONDO:0024458 False Kearns-Sayre syndrome disorder of visual system UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010788 MONDO:0004884 False Leber hereditary optic neuropathy eye degenerative disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0010788 MONDO:0016333 False Leber hereditary optic neuropathy familial dilated cardiomyopathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING -MONDO:0010788 MONDO:0016387 False Leber hereditary optic neuropathy mitochondrial oxidative phosphorylation disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010788 MONDO:0020249 False Leber hereditary optic neuropathy hereditary optic neuropathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010789 MONDO:0004675 False MELAS syndrome mitochondrial encephalomyopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0010788 MONDO:0043878 False Leber hereditary optic neuropathy hereditary optic atrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0010789 MONDO:0002254 False MELAS syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0010790 MONDO:0002254 False MERRF syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0010790 MONDO:0002320 False MERRF syndrome congenital nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0010790 MONDO:0004675 False MERRF syndrome mitochondrial encephalomyopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0010790 MONDO:0016022 False MERRF syndrome early myoclonic encephalopathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0010790 MONDO:0016333 False MERRF syndrome familial dilated cardiomyopathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING -MONDO:0010790 MONDO:0020127 False MERRF syndrome hereditary peripheral neuropathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010791 MONDO:0000866 False myoglobinuria, recurrent hereditary myoglobinuria UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010791 MONDO:0020504 False myoglobinuria, recurrent hereditary recurrent myoglobinuria UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010791 MONDO:0700223 False myoglobinuria, recurrent hereditary skeletal muscle disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010792 MONDO:0009637 False lethal infantile mitochondrial myopathy inborn mitochondrial myopathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010793 MONDO:0003847 False nephropathy, chronic tubulointerstitial hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010794 MONDO:0015653 False NARP syndrome monogenic epilepsy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010794 MONDO:0016387 False NARP syndrome mitochondrial oxidative phosphorylation disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010794 MONDO:0020127 False NARP syndrome hereditary peripheral neuropathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010794 MONDO:0100033 False NARP syndrome metabolic epilepsy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010796 MONDO:0005180 False Parkinson disease, mitochondrial Parkinson disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0010797 MONDO:0002254 False Pearson syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0010798 MONDO:0002254 False proximal tubulopathy-diabetes mellitus-cerebellar ataxia syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010799 MONDO:0016298 False deafness, aminoglycoside-induced postlingual non-syndromic genetic hearing loss UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010799 MONDO:0016387 False deafness, aminoglycoside-induced mitochondrial oxidative phosphorylation disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010800 MONDO:0018105 False Wolfram syndrome, mitochondrial form Wolfram syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0010801 MONDO:0019694 False spondylocamptodactyly syndrome spondylodysplastic dysplasia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010802 MONDO:0002254 False pancreatic hypoplasia-diabetes-congenital heart disease syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0010802 MONDO:0003847 False pancreatic hypoplasia-diabetes-congenital heart disease syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0010803 MONDO:0018230 False Eiken syndrome skeletal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010805 MONDO:0017919 False bladder exstrophy exstrophy-epispadias complex UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0010806 MONDO:0700234 False retinitis pigmentosa 13 PRPF8-related retinopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010808 MONDO:0005429 False fatal familial insomnia prion disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0010808 MONDO:0024237 False fatal familial insomnia inherited neurodegenerative disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010809 MONDO:0011996 False familial chronic myelocytic leukemia-like syndrome chronic myelogenous leukemia, BCR-ABL1 positive UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS +MONDO:0010808 MONDO:0013600 False fatal familial insomnia insomnia UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010810 MONDO:0002525 False vitamin D hydroxylation-deficient rickets, type 1B inherited lipid metabolism disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0010810 MONDO:0009924 False vitamin D hydroxylation-deficient rickets, type 1B vitamin D-dependent rickets, type 1 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010810 MONDO:0045012 False vitamin D hydroxylation-deficient rickets, type 1B steroid metabolism disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010810 MONDO:0800096 False vitamin D hydroxylation-deficient rickets, type 1B abnormal mineralization disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010811 MONDO:0003105 False benign prostatic hyperplasia prostate disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0010811 MONDO:0005043 False benign prostatic hyperplasia hyperplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010812 MONDO:0003847 False macrocytosis, familial hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010813 MONDO:0003847 False pancreatic beta cell agenesis with neonatal diabetes mellitus hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010814 MONDO:0002254 False chondrodysplasia-pseudohermaphroditism syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0010814 MONDO:0020040 False chondrodysplasia-pseudohermaphroditism syndrome 46,XY disorder of sex development UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010815 MONDO:0019667 False spondyloepiphyseal dysplasia tarda with characteristic facies spondyloepiphyseal dysplasia tarda UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0010816 MONDO:0002254 False Qazi Markouizos syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0010819 MONDO:0019353 False Stargardt disease 3 Stargardt disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010819 MONDO:0700227 False Stargardt disease 3 ELOVL4-related maculopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010820 MONDO:0017279 False autosomal recessive juvenile Parkinson disease 2 young-onset Parkinson disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0010821 MONDO:0002254 False familial developmental dysphasia syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010821 MONDO:0016226 False familial developmental dysphasia specific language disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010823 MONDO:0100274 False rhizomelic chondrodysplasia punctata type 3 alkylglycerone-phosphate synthase deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010824 MONDO:0020040 False disorder of sex development-intellectual disability syndrome 46,XY disorder of sex development UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010825 MONDO:0002254 False atrioventricular defect-blepharophimosis-radial and anal defect syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010825 MONDO:0005267 False atrioventricular defect-blepharophimosis-radial and anal defect syndrome heart disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010825 MONDO:0015161 False atrioventricular defect-blepharophimosis-radial and anal defect syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010825 MONDO:0024458 False atrioventricular defect-blepharophimosis-radial and anal defect syndrome disorder of visual system UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010826 MONDO:0000414 False childhood absence epilepsy childhood electroclinical syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0010826 MONDO:0015653 False childhood absence epilepsy monogenic epilepsy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010826 MONDO:0020072 False childhood absence epilepsy childhood-onset epilepsy syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010826 MONDO:0850093 False childhood absence epilepsy absence epilepsy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0010828 MONDO:0800395 False retinitis pigmentosa 11 PRPF31-related retinopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010829 MONDO:0014768 False CARASIL syndrome cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0010830 MONDO:0015674 False neuronal ceroid lipofuscinosis 8 late infantile neuronal ceroid lipofuscinosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010830 MONDO:0019262 False neuronal ceroid lipofuscinosis 8 juvenile neuronal ceroid lipofuscinosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010831 MONDO:0003847 False familial caudal dysgenesis hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010831 MONDO:0018639 False familial caudal dysgenesis caudal regression-sirenomelia spectrum UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010833 MONDO:0100179 False Hirschsprung disease, susceptibility to, 2 Hirschsprung disease, susceptibility to UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010834 MONDO:0100179 False Hirschsprung disease, susceptibility to, 5 Hirschsprung disease, susceptibility to UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010835 MONDO:0015159 False pterygium colli-intellectual disability-digital anomalies syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010838 MONDO:0003847 False gonadal agenesis hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010839 MONDO:0015362 False neuronopathy, distal hereditary motor, autosomal dominant 8 neuronopathy, distal hereditary motor, autosomal dominant UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS MONDO:0010840 MONDO:0005071 False pachygyria-intellectual disability-epilepsy syndrome nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010841 MONDO:0019517 False Waardenburg syndrome type 2B Waardenburg syndrome type 2 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010842 MONDO:0000426 False multiple cutaneous and mucosal venous malformations autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0010842 MONDO:0005385 False multiple cutaneous and mucosal venous malformations vascular disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0010843 MONDO:0020573 False dyslexia, susceptibility to, 2 inherited disease susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010844 MONDO:0015627 False epiphyseal dysplasia, multiple, 2 multiple epiphyseal dysplasia due to collagen 9 anomaly UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0010846 MONDO:0005508 False exostoses, multiple, type III hereditary multiple osteochondromas UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING -MONDO:0010847 MONDO:0019792 False spinocerebellar ataxia type 4 autosomal dominant cerebellar ataxia type I UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010848 MONDO:0019793 False spinocerebellar ataxia type 5 autosomal dominant cerebellar ataxia type III UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010849 MONDO:0017666 False palmoplantar keratoderma, Bothnian type diffuse palmoplantar keratoderma UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010850 MONDO:0015824 False Tessier number 4 facial cleft oculomaxillofacial dysostosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010851 MONDO:0005328 False Lowry-MacLean syndrome eye disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010851 MONDO:0015159 False Lowry-MacLean syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010851 MONDO:0015338 False Lowry-MacLean syndrome syndromic craniosynostosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010852 MONDO:0016907 False chromosome 8Q12.1-q21.2 deletion syndrome partial deletion of the long arm of chromosome 8 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010853 MONDO:0015979 False Helicobacter pylori infection, susceptibility to hereditary predisposition to infections UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010854 MONDO:0019287 False Toriello-Lacassie-Droste syndrome ectodermal dysplasia syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS -MONDO:0010855 MONDO:0015161 False short tarsus-absence of lower eyelashes syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010856 MONDO:0016894 False autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis partial deletion of the short arm of chromosome 16 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010856 MONDO:0019741 False autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis familial cystic renal disease UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010857 MONDO:0015059 False semantic dementia progressive non-fluent aphasia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010857 MONDO:0017160 False semantic dementia behavioral variant of frontotemporal dementia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010858 MONDO:0002320 False macrocephaly-spastic paraplegia-dysmorphism syndrome congenital nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010858 MONDO:0015159 False macrocephaly-spastic paraplegia-dysmorphism syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010858 MONDO:0019064 False macrocephaly-spastic paraplegia-dysmorphism syndrome hereditary spastic paraplegia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0010861 MONDO:0010255 False type 1 diabetes mellitus 3 diabetes mellitus, insulin-dependent, X-linked, susceptibility to UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0010862 MONDO:0010255 False type 1 diabetes mellitus 4 diabetes mellitus, insulin-dependent, X-linked, susceptibility to UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0010863 MONDO:0010255 False type 1 diabetes mellitus 5 diabetes mellitus, insulin-dependent, X-linked, susceptibility to UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0010864 MONDO:0010255 False type 1 diabetes mellitus 7 diabetes mellitus, insulin-dependent, X-linked, susceptibility to UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING -MONDO:0010865 MONDO:0015159 False pseudoaminopterin syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010865 MONDO:0015338 False pseudoaminopterin syndrome syndromic craniosynostosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010866 MONDO:0017198 False infantile osteopetrosis with neuroaxonal dysplasia osteopetrosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0010867 MONDO:0015161 False PARC syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010868 MONDO:0020704 False rippling muscle disease 1 inherited rippling muscle disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010869 MONDO:0024257 False motor neuron disease with dementia and ophthalmoplegia hereditary motor neuron disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010870 MONDO:0016108 False tibial muscular dystrophy autosomal dominant distal myopathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010870 MONDO:0100494 False tibial muscular dystrophy autosomal dominant titinopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010871 MONDO:0003847 False succinic acidemia hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010872 MONDO:0003847 False parotid salivary glands, polycystic dysgenetic disease of hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -20177,76 +24579,50 @@ MONDO:0010875 MONDO:0003847 False pachydermodactyly, familial hereditary disease MONDO:0010876 MONDO:0019294 False recessive aplasia cutis congenita of limbs mixed dermis disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010877 MONDO:0002316 False Charcot-Marie-Tooth disease type 5 motor peripheral neuropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0010877 MONDO:0019064 False Charcot-Marie-Tooth disease type 5 hereditary spastic paraplegia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS -MONDO:0010877 MONDO:0020127 False Charcot-Marie-Tooth disease type 5 hereditary peripheral neuropathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010879 MONDO:0015161 False CODAS syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010879 MONDO:0016761 False CODAS syndrome spondyloepiphyseal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0010881 MONDO:0005516 False mesomelia-synostoses syndrome osteochondrodysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010881 MONDO:0016907 False mesomelia-synostoses syndrome partial deletion of the long arm of chromosome 8 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010881 MONDO:0018230 False mesomelia-synostoses syndrome skeletal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010882 MONDO:0018234 False aphalangy-syndactyly-microcephaly syndrome dysostosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010882 MONDO:0019054 False aphalangy-syndactyly-microcephaly syndrome congenital limb malformation UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010883 MONDO:0015161 False pectus excavatum-macrocephaly-dysplastic nails syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010884 MONDO:0001347 False muscular dystrophy, scapulohumeral facioscapulohumeral muscular dystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0010885 MONDO:0003847 False angiokeratoma corporis diffusum with arteriovenous fistulas hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010886 MONDO:0016901 False 2q37 microdeletion syndrome partial deletion of the long arm of chromosome 2 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010886 MONDO:0018230 False 2q37 microdeletion syndrome skeletal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010886 MONDO:0019054 False 2q37 microdeletion syndrome congenital limb malformation UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010887 MONDO:0019280 False isolated anterior cervical hypertrichosis hypertrichosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010888 MONDO:0000931 False adenomyosis endometrial disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0010889 MONDO:0005385 False arterial dissection-lentiginosis syndrome vascular disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010890 MONDO:0015159 False acrocardiofacial syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010891 MONDO:0002254 False lethal hemolytic anemia-genital anomalies syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010891 MONDO:0003664 False lethal hemolytic anemia-genital anomalies syndrome hemolytic anemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010895 MONDO:0006025 False ABCD syndrome autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0010896 MONDO:0003847 False pigment dispersion syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0010896 MONDO:0005328 False pigment dispersion syndrome eye disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0010897 MONDO:0005090 False schizophrenia 3 schizophrenia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS -MONDO:0010898 MONDO:0005115 False autosomal dominant epilepsy with auditory features temporal lobe epilepsy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0010899 MONDO:0020300 False autosomal dominant nocturnal frontal lobe epilepsy 1 autosomal dominant nocturnal frontal lobe epilepsy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0010900 MONDO:0019342 False intrauterine growth retardation with increased mitomycin c sensitivity Seckel syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0010901 MONDO:0002254 False HEC syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010902 MONDO:0016761 False spondyloepiphyseal dysplasia, Reardon type spondyloepiphyseal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010903 MONDO:0015469 False craniosynostosis, Adelaide type craniosynostosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0010904 MONDO:0003847 False setting-Sun phenomenon, familial benign hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010906 MONDO:0016044 False orofacial cleft 11 cleft lip/palate UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010907 MONDO:0017350 False familial hypertryptophanemia inborn disorder of tryptophan metabolism UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010908 MONDO:0004907 False loose anagen syndrome alopecia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0010908 MONDO:0021147 False loose anagen syndrome disorder of development or morphogenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010910 MONDO:0000022 False enuresis, nocturnal, 1 nocturnal enuresis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010910 MONDO:0003847 False enuresis, nocturnal, 1 hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010911 MONDO:0003430 False prolactin-producing pituitary gland adenoma prolactin producing pituitary tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0010911 MONDO:0017824 False prolactin-producing pituitary gland adenoma familial isolated pituitary adenoma UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010912 MONDO:0100154 False fibrosis of extraocular muscles, congenital, 3A, with or without extraocular involvement TUBB3-related tubulinopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010914 MONDO:0015515 False carnitine palmitoyl transferase II deficiency, severe infantile form carnitine palmitoyltransferase II deficiency UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010916 MONDO:0004691 False polycystic kidney disease 3 with or without polycystic liver disease autosomal dominant polycystic kidney disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0010913 MONDO:0006322 False Caroli disease non-neoplastic bile duct disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010917 MONDO:0001314 False chondrocalcinosis 1 chondrocalcinosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010918 MONDO:0020573 False epilepsy, idiopathic generalized, susceptibility to, 1 inherited disease susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010919 MONDO:0003847 False varicella, severe recurrent hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010920 MONDO:0019755 False microtia developmental defect during embryogenesis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010920 MONDO:0024623 False microtia otorhinolaryngologic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010921 MONDO:0002436 False nasal dermoid cyst nasal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010921 MONDO:0015380 False nasal dermoid cyst facial dermoid cyst UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010921 MONDO:0018751 False nasal dermoid cyst hereditary otorhinolaryngologic disease UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010922 MONDO:0004907 False Satoyoshi syndrome alopecia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010922 MONDO:0005020 False Satoyoshi syndrome intestinal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010922 MONDO:0019852 False Satoyoshi syndrome inherited primary ovarian failure UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0010923 MONDO:0005336 False proximal myopathy with focal depletion of mitochondria myopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010923 MONDO:0700223 False proximal myopathy with focal depletion of mitochondria hereditary skeletal muscle disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010924 MONDO:0016001 False D-2-hydroxyglutaric aciduria 2-hydroxyglutaric aciduria UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0010925 MONDO:0015161 False velo-facial-skeletal syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010927 MONDO:0007336 False orofacial cleft 3 isolated cleft palate UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS MONDO:0010927 MONDO:0016043 False orofacial cleft 3 isolated cleft lip UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010928 MONDO:0003847 False dwarfism, familial, with muscle spasms hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010929 MONDO:0015338 False craniosynostosis 4 syndromic craniosynostosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010930 MONDO:0002254 False anophthalmia plus syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010930 MONDO:0015161 False anophthalmia plus syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010931 MONDO:0019642 False vitamin D-dependent rickets, type 2B vitamin D-dependent rickets, type 2 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010931 MONDO:0800096 False vitamin D-dependent rickets, type 2B abnormal mineralization disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010932 MONDO:0019118 False progressive bifocal chorioretinal atrophy inherited retinal dystrophy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010936 MONDO:0017160 False frontotemporal dementia and/or amyotrophic lateral sclerosis 7 behavioral variant of frontotemporal dementia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010936 MONDO:0030923 False frontotemporal dementia and/or amyotrophic lateral sclerosis 7 frontotemporal dementia and/or amyotrophic lateral sclerosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0010937 MONDO:0003847 False isoproterenol-mediated vasodilatation hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010938 MONDO:0031520 False T-B+ severe combined immunodeficiency due to JAK3 deficiency familial severe combined immunodeficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING -MONDO:0010938 MONDO:0044200 False T-B+ severe combined immunodeficiency due to JAK3 deficiency T-B+ severe combined immunodeficiency UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010939 MONDO:0002155 False low phospholipid associated cholelithiasis cholecystitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010940 MONDO:0020573 False inherited susceptibility to asthma inherited disease susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010941 MONDO:0000022 False nocturnal enuresis, 2 nocturnal enuresis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -20256,288 +24632,176 @@ MONDO:0010944 MONDO:0003847 False mitochondrial import-stimulating factor heredi MONDO:0010946 MONDO:0800484 False hypertrophic cardiomyopathy 6 PRKAG2-related cardiomyopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010947 MONDO:0002405 False Budd-Chiari syndrome hepatic vascular disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010948 MONDO:0011060 False cataract 10 multiple types early-onset non-syndromic cataract UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING -MONDO:0010949 MONDO:0018993 False Charcot-Marie-Tooth disease type 2B Charcot-Marie-Tooth disease type 2 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0010950 MONDO:0010255 False type 1 diabetes mellitus 8 diabetes mellitus, insulin-dependent, X-linked, susceptibility to UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING -MONDO:0010952 MONDO:0003847 False hereditary hyperferritinemia with congenital cataracts hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0010952 MONDO:0005328 False hereditary hyperferritinemia with congenital cataracts eye disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0010954 MONDO:0021094 False Wiskott-Aldrich syndrome, autosomal dominant form immunodeficiency disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0010955 MONDO:0003847 False ectodermal dysplasia with intellectual disability and syndactyly hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010956 MONDO:0003847 False enamel hypoplasia, cataracts, and aqueductal stenosis hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010959 MONDO:0015161 False van den Ende-Gupta syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010959 MONDO:0015168 False van den Ende-Gupta syndrome arthrogryposis multiplex congenita UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS MONDO:0010960 MONDO:0003847 False protocadherin 3 hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010961 MONDO:0015770 False obesity due to prohormone convertase I deficiency congenital hypogonadotropic hypogonadism UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010961 MONDO:0019182 False obesity due to prohormone convertase I deficiency inherited obesity UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0010962 MONDO:0000426 False diffuse nonepidermolytic palmoplantar keratoderma autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0010962 MONDO:0017666 False diffuse nonepidermolytic palmoplantar keratoderma diffuse palmoplantar keratoderma UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010964 MONDO:0015627 False epiphyseal dysplasia, multiple, 3 multiple epiphyseal dysplasia due to collagen 9 anomaly UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0010966 MONDO:0000226 False achondrogenesis type IB mineral metabolism disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010966 MONDO:0019052 False achondrogenesis type IB inborn errors of metabolism UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0010968 MONDO:0020366 False glaucoma 3, primary infantile, B congenital glaucoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010970 MONDO:0003847 False cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0010971 MONDO:0002254 False infundibulopelvic stenosis-multicystic kidney syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010972 MONDO:0015160 False hydrocephalus-costovertebral dysplasia-Sprengel anomaly syndrome multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010974 MONDO:0019006 False nephrotic syndrome, type 2 familial idiopathic steroid-resistant nephrotic syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010977 MONDO:0005336 False Brody myopathy myopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0010977 MONDO:0016199 False Brody myopathy qualitative or quantitative defects of protein SERCA1 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010977 MONDO:0700223 False Brody myopathy hereditary skeletal muscle disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010978 MONDO:0003847 False portal vein, cavernous transformation of hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010979 MONDO:0000426 False Timothy syndrome autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0010979 MONDO:0019171 False Timothy syndrome familial long QT syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0010980 MONDO:0003847 False midline malformations, multiple, with limb abnormalities and hypopituitarism hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010981 MONDO:0015161 False absent tibia-polydactyly-arachnoid cyst syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010981 MONDO:0018234 False absent tibia-polydactyly-arachnoid cyst syndrome dysostosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010981 MONDO:0019054 False absent tibia-polydactyly-arachnoid cyst syndrome congenital limb malformation UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010982 MONDO:0003847 False ichthyosis-intellectual disability syndrome with large keratohyalin granules in the skin hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010983 MONDO:0016058 False dystonia 9 paroxysmal dystonia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010983 MONDO:0017706 False dystonia 9 disorder of carbohydrate transmembrane transport and absorption UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010984 MONDO:0010168 False Usher syndrome type 1D Usher syndrome type 1 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0010988 MONDO:0007145 False aplasia cutis-myopia syndrome aplasia cutis congenita UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING -MONDO:0010989 MONDO:0017771 False Mayer-Rokitansky-Küster-Hauser syndrome type 2 Mayer-Rokitansky-Kuster-Hauser syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0010991 MONDO:0018677 False laterality defects, autosomal dominant visceral heterotaxy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING -MONDO:0010992 MONDO:0002254 False Ayme-Gripp syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0010992 MONDO:0003847 False Ayme-Gripp syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0010992 MONDO:0015159 False Ayme-Gripp syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010993 MONDO:0015159 False Harrod syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010995 MONDO:0019011 False Charcot-Marie-Tooth disease type 1C Charcot-Marie-Tooth disease type 1 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0010997 MONDO:0019037 False supranuclear palsy, progressive, 1 progressive supranuclear palsy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010997 MONDO:0024237 False supranuclear palsy, progressive, 1 inherited neurodegenerative disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010998 MONDO:0017740 False ALG3-congenital disorder of glycosylation disorder of protein N-glycosylation UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010999 MONDO:0015159 False fallot complex-intellectual disability-growth delay syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011000 MONDO:0003847 False guanylate cyclase 2E hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011002 MONDO:0002316 False neuropathy, hereditary motor and sensory, type 6A motor peripheral neuropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011002 MONDO:0019551 False neuropathy, hereditary motor and sensory, type 6A hereditary motor and sensory neuropathy type 6 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011003 MONDO:0002254 False dilated cardiomyopathy 1E syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0011004 MONDO:0015148 False lissencephaly type 3-metacarpal bone dysplasia syndrome lissencephaly type 3 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011005 MONDO:0003847 False trisomy 18-like syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011006 MONDO:0015091 False hereditary spastic paraplegia 9A autosomal dominant spastic paraplegia type 9 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011007 MONDO:0002254 False diaphragmatic defect-limb deficiency-skull defect syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011007 MONDO:0015161 False diaphragmatic defect-limb deficiency-skull defect syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011008 MONDO:0015161 False cleft lip/palate-intestinal malrotation-cardiopathy syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011009 MONDO:0003847 False muscular dystrophy, congenital, with severe central nervous system atrophy and absence of large myelinated fibers hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011010 MONDO:0015161 False Matthew-Wood syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011010 MONDO:0015929 False Matthew-Wood syndrome thoracic malformation UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011011 MONDO:0002254 False skeletal dysplasia-epilepsy-short stature syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011011 MONDO:0018230 False skeletal dysplasia-epilepsy-short stature syndrome skeletal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011011 MONDO:0019054 False skeletal dysplasia-epilepsy-short stature syndrome congenital limb malformation UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011014 MONDO:0003847 False pleuropulmonary blastoma hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0011014 MONDO:0005933 False pleuropulmonary blastoma pulmonary blastoma UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0011014 MONDO:0006517 False pleuropulmonary blastoma childhood malignant neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011015 MONDO:0020373 False cataract 24 early-onset anterior polar cataract UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011016 MONDO:0010255 False type 1 diabetes mellitus 11 diabetes mellitus, insulin-dependent, X-linked, susceptibility to UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0011017 MONDO:0005217 False Naxos disease familial cardiomyopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011017 MONDO:0006025 False Naxos disease autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0011017 MONDO:0016587 False Naxos disease arrhythmogenic right ventricular cardiomyopathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0011017 MONDO:0100080 False Naxos disease cardioectodermal syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011018 MONDO:0016761 False brachyolmia-amelogenesis imperfecta syndrome spondyloepiphyseal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0011019 MONDO:0004907 False alopecia-intellectual disability-hypergonadotropic hypogonadism syndrome alopecia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011020 MONDO:0002081 False osteoporosis-oculocutaneous hypopigmentation syndrome musculoskeletal system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011020 MONDO:0003847 False osteoporosis-oculocutaneous hypopigmentation syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011021 MONDO:0000858 False neuronal intestinal dysplasia, type B neuronal intestinal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0011021 MONDO:0017574 False neuronal intestinal dysplasia, type B chronic intestinal pseudoobstruction UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011022 MONDO:0015160 False Potocki-Shaffer syndrome multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011022 MONDO:0016893 False Potocki-Shaffer syndrome partial deletion of the short arm of chromosome 11 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011023 MONDO:0004335 False hereditary mixed polyposis syndrome digestive system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0011023 MONDO:0015185 False hereditary mixed polyposis syndrome intestinal polyposis syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011024 MONDO:0015614 False dermatitis herpetiformis, familial dermatitis herpetiformis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011024 MONDO:0100118 False dermatitis herpetiformis, familial hereditary skin disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011025 MONDO:0020043 False Cayman type cerebellar ataxia autosomal recessive congenital cerebellar ataxia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011026 MONDO:0017778 False autosomal recessive congenital ichthyosis 4A lamellar ichthyosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011027 MONDO:0005148 False diabetes mellitus, noninsulin-dependent, 1 type 2 diabetes mellitus UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0011027 MONDO:0015967 False diabetes mellitus, noninsulin-dependent, 1 monogenic diabetes UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011028 MONDO:0016144 False autosomal recessive limb-girdle muscular dystrophy type 2F qualitative or quantitative defects of delta-sarcoglycan UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011028 MONDO:0016333 False autosomal recessive limb-girdle muscular dystrophy type 2F familial dilated cardiomyopathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0011029 MONDO:0003847 False myeloid tumor suppressor hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011030 MONDO:0003847 False epithelial basolateral chloride conductance regulator, rabbit, homolog of hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011033 MONDO:0010255 False type 1 diabetes mellitus 13 diabetes mellitus, insulin-dependent, X-linked, susceptibility to UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0011034 MONDO:0019287 False odontomicronychial dysplasia ectodermal dysplasia syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING -MONDO:0011035 MONDO:0019755 False neurofibromatosis-Noonan syndrome developmental defect during embryogenesis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011035 MONDO:0021060 False neurofibromatosis-Noonan syndrome RASopathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0011035 MONDO:0021061 False neurofibromatosis-Noonan syndrome neurofibromatosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0011036 MONDO:0005071 False porencephaly-cerebellar hypoplasia-internal malformations syndrome nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011037 MONDO:0020573 False renal dysplasia, cystic, susceptibility to inherited disease susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011038 MONDO:0014720 False cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome autosomal dominant optic atrophy plus syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011038 MONDO:0019792 False cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome autosomal dominant cerebellar ataxia type I UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011038 MONDO:0700002 False cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome ATP1A3-associated neurological disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011039 MONDO:0003847 False atrophia maculosa varioliformis cutis, familial hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011040 MONDO:0003847 False spinal dysplasia, Anhalt type hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011041 MONDO:0019287 False ectodermal dysplasia with natal teeth, Turnpenny type ectodermal dysplasia syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0011042 MONDO:0003847 False Martinez-Frias syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011043 MONDO:0003847 False myelodysplasia, immunodeficiency, facial dysmorphism, short stature, and psychomotor delay hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011044 MONDO:0003847 False ectrodactyly of lower limbs, congenital heart defect, and micrognathia hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011045 MONDO:0015159 False MMEP syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011046 MONDO:0002081 False short stature, Brussels type musculoskeletal system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011046 MONDO:0003847 False short stature, Brussels type hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011047 MONDO:0003847 False deafness-epiphyseal dysplasia-short stature syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011048 MONDO:0015159 False epilepsy-microcephaly-skeletal dysplasia syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011049 MONDO:0015159 False Fine-Lubinsky syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011050 MONDO:0005267 False microcephaly-cardiac defect-lung malsegmentation syndrome heart disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011050 MONDO:0015161 False microcephaly-cardiac defect-lung malsegmentation syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011051 MONDO:0016357 False lethal short-limb skeletal dysplasia, Al Gazali type dysplastic cortical hyperostosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011052 MONDO:0002254 False amelia cleft lip palate hydrocephalus iris coloboma syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011052 MONDO:0003847 False amelia cleft lip palate hydrocephalus iris coloboma hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011053 MONDO:0000508 False intellectual disability-sparse hair-brachydactyly syndrome syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011053 MONDO:0002320 False intellectual disability-sparse hair-brachydactyly syndrome congenital nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011053 MONDO:0015159 False intellectual disability-sparse hair-brachydactyly syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011053 MONDO:0700120 False intellectual disability-sparse hair-brachydactyly syndrome BAFopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011054 MONDO:0006025 False autosomal recessive amelia autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011054 MONDO:0018234 False autosomal recessive amelia dysostosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011054 MONDO:0019054 False autosomal recessive amelia congenital limb malformation UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011055 MONDO:0003847 False distal monosomy 10p hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011055 MONDO:0016892 False distal monosomy 10p partial deletion of the short arm of chromosome 10 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011057 MONDO:0043218 False cerebrovascular disorder neurovascular disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011059 MONDO:0015338 False holoprosencephaly-craniosynostosis syndrome syndromic craniosynostosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011060 MONDO:0005129 False early-onset non-syndromic cataract cataract UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0011061 MONDO:0001595 False chorea, remitting, with nystagmus and cataract choreatic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011061 MONDO:0003847 False chorea, remitting, with nystagmus and cataract hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011062 MONDO:0020022 False aprosencephaly cerebellar dysgenesis central nervous system malformation UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011063 MONDO:0019287 False hidrotic ectodermal dysplasia, Christianson-Fourie type ectodermal dysplasia syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0011064 MONDO:0005516 False lethal chondrodysplasia, Seller type osteochondrodysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011064 MONDO:0018230 False lethal chondrodysplasia, Seller type skeletal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011065 MONDO:0015338 False Hunter-McAlpine craniosynostosis syndromic craniosynostosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011066 MONDO:0018995 False Charcot-Marie-Tooth disease type 4B1 Charcot-Marie-Tooth disease type 4 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0011068 MONDO:0010255 False type 1 diabetes mellitus 12 diabetes mellitus, insulin-dependent, X-linked, susceptibility to UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0011069 MONDO:0003847 False cervical ribs, Sprengel anomaly, anal atresia, and urethral obstruction hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011071 MONDO:0015356 False hereditary thrombocytopenia and hematologic cancer predisposition syndrome hereditary neoplastic syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011071 MONDO:0021181 False hereditary thrombocytopenia and hematologic cancer predisposition syndrome inherited blood coagulation disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011071 MONDO:0060782 False hereditary thrombocytopenia and hematologic cancer predisposition syndrome premalignant hematological system disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011072 MONDO:0005148 False diabetes mellitus, noninsulin-dependent, 2 type 2 diabetes mellitus UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0011072 MONDO:0015967 False diabetes mellitus, noninsulin-dependent, 2 monogenic diabetes UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011073 MONDO:0020525 False diabetes mellitus, transient neonatal, 1 transient neonatal diabetes mellitus UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011076 MONDO:0002320 False myofibrillar myopathy 1 congenital nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0011076 MONDO:0016187 False myofibrillar myopathy 1 qualitative or quantitative defects of desmin UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011076 MONDO:0016333 False myofibrillar myopathy 1 familial dilated cardiomyopathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING -MONDO:0011076 MONDO:0019056 False myofibrillar myopathy 1 neuromuscular disease UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0011077 MONDO:0003847 False microcephaly, corpus callosum dysgenesis, and cleft lip/palate hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011078 MONDO:0003847 False anterior chamber cleavage disorder, cerebellar hypoplasia, hypothyroidism, and tracheal stenosis hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011079 MONDO:0018230 False rhizomelic dysplasia, Patterson-Lowry type skeletal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011080 MONDO:0003847 False progressive deafness with stapes fixation hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011081 MONDO:0015161 False dislocation of the hip-dysmorphism syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011082 MONDO:0016643 False oculoauriculofrontonasal syndrome frontonasal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING -MONDO:0011083 MONDO:0019287 False trichodental syndrome ectodermal dysplasia syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0011084 MONDO:0100171 False psoriasis 3, susceptibility to psoriasis, susceptibility to UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011085 MONDO:0018995 False Charcot-Marie-Tooth disease type 4D Charcot-Marie-Tooth disease type 4 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0011086 MONDO:0017855 False severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive T-B- severe combined immunodeficiency UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011086 MONDO:0031520 False severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive familial severe combined immunodeficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0011088 MONDO:0020344 False congenital myasthenic syndrome 1A postsynaptic congenital myasthenic syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011089 MONDO:0003847 False patent ductus venosus hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011090 MONDO:0002320 False isolated hereditary congenital facial paralysis congenital nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011090 MONDO:0003847 False isolated hereditary congenital facial paralysis hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011091 MONDO:0018993 False Charcot-Marie-Tooth disease type 2D Charcot-Marie-Tooth disease type 2 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0011092 MONDO:0003847 False ribbing disease hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011093 MONDO:0005381 False mucopolysaccharidosis type 9 bone disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0011096 MONDO:0016462 False autosomal agammaglobulinemia isolated agammaglobulinemia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011098 MONDO:0023122 False prostate cancer, hereditary, 1 familial prostate carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0011099 MONDO:0002254 False human HOXA1 syndromes syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0011099 MONDO:0006025 False human HOXA1 syndromes autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0011100 MONDO:0003847 False microcephaly, retinitis pigmentosa, and sutural cataract hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011101 MONDO:0100259 False peroxisome biogenesis disorder 1B peroxisome biogenesis disorder due to PEX1 defect UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011105 MONDO:0019627 False alacrima, congenital, autosomal recessive isolated congenital alacrima UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011106 MONDO:0001176 False facial dysmorphism-lens dislocation-anterior segment abnormalities-spontaneous filtering blebs syndrome lens disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011106 MONDO:0003847 False facial dysmorphism-lens dislocation-anterior segment abnormalities-spontaneous filtering blebs syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011107 MONDO:0003037 False congenital hypotrichosis with juvenile macular dystrophy hypotrichosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS -MONDO:0011107 MONDO:0019287 False congenital hypotrichosis with juvenile macular dystrophy ectodermal dysplasia syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS -MONDO:0011109 MONDO:0016648 False multiple epiphyseal dysplasia, Lowry type multiple epiphyseal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0011110 MONDO:0002254 False dyssegmental dysplasia-glaucoma syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011110 MONDO:0005328 False dyssegmental dysplasia-glaucoma syndrome eye disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011113 MONDO:0018995 False Charcot-Marie-Tooth disease type 4C Charcot-Marie-Tooth disease type 4 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0011114 MONDO:0011512 False familial multiple trichoepithelioma Brooke-Spiegler syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011115 MONDO:0003847 False spastic paraplegia and Evans syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011116 MONDO:0002254 False lung agenesis-heart defect-thumb anomalies syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011116 MONDO:0005087 False lung agenesis-heart defect-thumb anomalies syndrome respiratory system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011116 MONDO:0021147 False lung agenesis-heart defect-thumb anomalies syndrome disorder of development or morphogenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011117 MONDO:0003847 False iris pigment epithelium anomalies hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011119 MONDO:0019503 False iridogoniodysgenesis anterior segment dysgenesis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0011120 MONDO:0019351 False neural tube defects, folate-sensitive isolated spina bifida UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011121 MONDO:0002714 False paragangliomas 2 central nervous system cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011121 MONDO:0002817 False paragangliomas 2 adrenal gland cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011121 MONDO:0006295 False paragangliomas 2 malignant urinary system neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011121 MONDO:0017366 False paragangliomas 2 hereditary pheochromocytoma-paraganglioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011121 MONDO:0021089 False paragangliomas 2 peripheral nervous system cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011122 MONDO:0003916 False obesity disorder overnutrition UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0011123 MONDO:0010255 False type 1 diabetes mellitus 15 diabetes mellitus, insulin-dependent, X-linked, susceptibility to UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0011124 MONDO:0100510 False spondyloepimetaphyseal dysplasia-abnormal dentition syndrome spondyloepimetaphyseal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011125 MONDO:0002470 False trichothiodystrophy 1, photosensitive photosensitive trichothiodystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0011126 MONDO:0003847 False acute insulin response hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011126 MONDO:0020683 False acute insulin response acute disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011128 MONDO:0019942 False Sheldon-hall syndrome distal arthrogryposis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0011129 MONDO:0005338 False glaucoma type 1C open-angle glaucoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011129 MONDO:0020366 False glaucoma type 1C congenital glaucoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011130 MONDO:0003847 False sebaceous gland hyperplasia, familial presenile hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011131 MONDO:0019287 False tricho-oculo-dermo-vertebral syndrome ectodermal dysplasia syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING -MONDO:0011132 MONDO:0015974 False T-cell immunodeficiency, congenital alopecia, and nail dystrophy severe combined immunodeficiency UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0011133 MONDO:0019290 False deaf blind hypopigmentation syndrome, Yemenite type hypopigmentation of the skin UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011134 MONDO:0015160 False Curry-Jones syndrome multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011134 MONDO:0015338 False Curry-Jones syndrome syndromic craniosynostosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011135 MONDO:0003847 False superior transverse scapular ligament, calcification of, familial hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011136 MONDO:0020117 False Quebec platelet disorder alpha granule disease UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011137 MONDO:0800406 False retinitis pigmentosa 19 ABCA4-related retinopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011138 MONDO:0020573 False systemic lupus erythematosus, susceptibility to, 1 inherited disease susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011139 MONDO:0016018 False preaxial hallucal polydactyly diabetic embryopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011141 MONDO:0003847 False megaloblastic anemia, folate-responsive hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011142 MONDO:0005267 False Ehlers-Danlos syndrome, musculocontractural type heart disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011142 MONDO:0015286 False Ehlers-Danlos syndrome, musculocontractural type congenital disorder of glycosylation UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011142 MONDO:0015327 False Ehlers-Danlos syndrome, musculocontractural type developmental anomaly of metabolic origin UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011142 MONDO:0019942 False Ehlers-Danlos syndrome, musculocontractural type distal arthrogryposis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011142 MONDO:0020066 False Ehlers-Danlos syndrome, musculocontractural type Ehlers-Danlos syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011143 MONDO:0100454 False cone-rod dystrophy 6 GUCY2D retinopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011144 MONDO:0008768 False ceroid lipofuscinosis, neuronal, 6A ceroid lipofuscinosis, neuronal, 6B (Kufs type) UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS MONDO:0011144 MONDO:0015674 False ceroid lipofuscinosis, neuronal, 6A late infantile neuronal ceroid lipofuscinosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011145 MONDO:0015159 False colobomatous microphthalmia - obesity - hypogenitalism - intellectual disability syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011146 MONDO:0016933 False tetrasomy 12p partial trisomy/tetrasomy of the short arm of chromosome 12 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011146 MONDO:0019716 False tetrasomy 12p overgrowth syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011147 MONDO:0016880 False chromosome 18q deletion syndrome partial deletion of chromosome 18 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011146 MONDO:0002254 False tetrasomy 12p syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011147 MONDO:0002254 False chromosome 18q deletion syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0011148 MONDO:0003847 False Spondylospinal thoracic dysostosis hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011149 MONDO:0019303 False premature aging syndrome, Okamoto type premature aging syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011150 MONDO:0003847 False acroosteolysis-keloid-like lesions-premature aging syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011150 MONDO:0019303 False acroosteolysis-keloid-like lesions-premature aging syndrome premature aging syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011151 MONDO:0700228 False exudative vitreoretinopathy 4 LRP5-related exudative vitreoretinopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011152 MONDO:0018491 False PHGDH deficiency 3-phosphoglycerate dehydrogenase deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011153 MONDO:0019010 False hyperinsulinemic hypoglycemia, familial, 2 congenital isolated hyperinsulinism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011154 MONDO:0018237 False acrofacial dysostosis, Palagonia type acrofacial dysostosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0011155 MONDO:0003847 False vacuolar Neuromyopathy hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011156 MONDO:0011559 False progressive familial intrahepatic cholestasis type 2 benign recurrent intrahepatic cholestasis type 2 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS -MONDO:0011157 MONDO:0020022 False Gomez-Lopez-Hernandez syndrome central nervous system malformation UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011158 MONDO:0017979 False autoimmune lymphoproliferative syndrome type 1 autoimmune lymphoproliferative syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011161 MONDO:0003847 False sperm-specific antigen 1 hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011162 MONDO:0011060 False cataract 14 multiple types early-onset non-syndromic cataract UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0011166 MONDO:0002254 False lymphedema-atrial septal defects-facial changes syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011166 MONDO:0019175 False lymphedema-atrial septal defects-facial changes syndrome primary lymphedema UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011167 MONDO:0010255 False type 1 diabetes mellitus 6 diabetes mellitus, insulin-dependent, X-linked, susceptibility to UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0011168 MONDO:0010255 False type 1 diabetes mellitus 10 diabetes mellitus, insulin-dependent, X-linked, susceptibility to UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING -MONDO:0011169 MONDO:0019268 False keratosis linearis-ichthyosis congenita-sclerosing keratoderma syndrome epidermal disease UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011169 MONDO:0100118 False keratosis linearis-ichthyosis congenita-sclerosing keratoderma syndrome hereditary skin disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011170 MONDO:0016192 False autosomal recessive limb-girdle muscular dystrophy type 2G qualitative or quantitative defects of telethonin UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011171 MONDO:0019287 False odonto-tricho-ungual-digito-palmar syndrome ectodermal dysplasia syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0011172 MONDO:0003847 False otofacioosseous-gonadal syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011174 MONDO:0003847 False hyperzincemia with functional zinc depletion hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011175 MONDO:0100339 False Friedreich ataxia 2 Friedreich ataxia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0011176 MONDO:0017626 False intestinal hypomagnesemia 1 familial primary hypomagnesemia with normocalcuria UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011177 MONDO:0019071 False ectodermal dysplasia 4, hair/nail type pure hair and nail ectodermal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0011178 MONDO:0015427 False infantile convulsions and choreoathetosis paroxysmal dyskinesia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011178 MONDO:0015642 False infantile convulsions and choreoathetosis benign partial infantile seizures UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011178 MONDO:0002254 False infantile convulsions and choreoathetosis syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011178 MONDO:0015653 False infantile convulsions and choreoathetosis monogenic epilepsy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011179 MONDO:0020573 False leishmaniasis, tegumentary, susceptibility to inherited disease susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011180 MONDO:0003847 False broad terminal phalanges, familial hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011181 MONDO:0002320 False fibrosis of extraocular muscles, congenital, 2 congenital nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0011182 MONDO:0011610 False trimethylaminuria dimethylglycine dehydrogenase deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011183 MONDO:0019707 False Paget disease of bone 2, early-onset primary osteolysis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011184 MONDO:0003847 False childhood apraxia of speech hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0011184 MONDO:0016226 False childhood apraxia of speech specific language disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011185 MONDO:0000764 False Thiel-Behnke corneal dystrophy epithelial-stromal TGFBI dystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0011185 MONDO:0020212 False Thiel-Behnke corneal dystrophy superficial corneal dystrophy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011186 MONDO:0010168 False Usher syndrome type 1F Usher syndrome type 1 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0011187 MONDO:0019673 False polydactyly, postaxial, type A2 postaxial polydactyly type A UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011191 MONDO:0002407 False capillary infantile hemangioma capillary hemangioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011191 MONDO:0003847 False capillary infantile hemangioma hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011193 MONDO:0000455 False cone dystrophy 3 cone dystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0011194 MONDO:0015140 False Alzheimer disease 5 early-onset autosomal dominant Alzheimer disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011195 MONDO:0010168 False Usher syndrome type 1E Usher syndrome type 1 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0011196 MONDO:0017593 False amyotrophic lateral sclerosis type 5 juvenile amyotrophic lateral sclerosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011197 MONDO:0015358 False hereditary thermosensitive neuropathy hereditary motor and sensory neuropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011198 MONDO:0100510 False spondyloepimetaphyseal dysplasia, Missouri type spondyloepimetaphyseal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0011199 MONDO:0013433 False nephropathy, progressive tubulointerstitial, with cholestatic liver disease primary sclerosing cholangitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING -MONDO:0011200 MONDO:0000477 False torsion dystonia 7 focal dystonia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0011202 MONDO:0002254 False RHYNS syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011202 MONDO:0015962 False RHYNS syndrome inherited renal tubular disease UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011202 MONDO:0024458 False RHYNS syndrome disorder of visual system UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -20545,40 +24809,26 @@ MONDO:0011203 MONDO:0002254 False Pierre Robin sequence with pectus excavatum an MONDO:0011205 MONDO:0003847 False medium chain 3-ketoacyl-Coa thiolase deficiency hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011206 MONDO:0003847 False ventriculomegaly with defects of the radius and kidney hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011207 MONDO:0020573 False xanthomatosis, susceptibility to inherited disease susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011208 MONDO:0019293 False malignant atrophic papulosis skin vascular disease UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011209 MONDO:0003847 False progeroid facial appearance with hand anomalies hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011210 MONDO:0003847 False mitochondrial intermembrane space protein Tim12, yeast, homolog of hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011211 MONDO:0019691 False axial spondylometaphyseal dysplasia short rib dysplasia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011212 MONDO:0003847 False sensorineural hearing loss, retinal pigment epithelium lesions, discolored teeth hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011213 MONDO:0000508 False Pierpont syndrome syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0011213 MONDO:0002320 False Pierpont syndrome congenital nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0011213 MONDO:0003847 False Pierpont syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0011213 MONDO:0015159 False Pierpont syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011213 MONDO:0019296 False Pierpont syndrome subcutaneous tissue disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011215 MONDO:0800063 False osteocraniostenosis primordial dwarfism and slender bone disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011216 MONDO:0019257 False hemochromatosis type 2A hemochromatosis type 2 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0011217 MONDO:0019702 False desmosterolosis neonatal osteosclerotic dysplasia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011217 MONDO:0045017 False desmosterolosis cholesterol biosynthetic process disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011220 MONDO:0017279 False parkinson disease 3, autosomal dominant young-onset Parkinson disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0011221 MONDO:0003847 False Weyers ulnar ray/oligodactyly syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011224 MONDO:0020129 False monomelic amyotrophy acquired motor neuron disease UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011225 MONDO:0017855 False severe combined immunodeficiency due to DCLRE1C deficiency T-B- severe combined immunodeficiency UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011225 MONDO:0021190 False severe combined immunodeficiency due to DCLRE1C deficiency DNA repair disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011225 MONDO:0031520 False severe combined immunodeficiency due to DCLRE1C deficiency familial severe combined immunodeficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0011227 MONDO:0005172 False short stature-auditory canal atresia-mandibular hypoplasia-skeletal anomalies syndrome skeletal system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011227 MONDO:0015161 False short stature-auditory canal atresia-mandibular hypoplasia-skeletal anomalies syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011227 MONDO:0018751 False short stature-auditory canal atresia-mandibular hypoplasia-skeletal anomalies syndrome hereditary otorhinolaryngologic disease UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011228 MONDO:0003847 False creases, infra-auricular cutaneous, with tall stature and advanced bone age hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011229 MONDO:0044970 False ethylmalonic encephalopathy mitochondrial disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011229 MONDO:0100198 False ethylmalonic encephalopathy Mendelian encephalopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011230 MONDO:0005172 False ossification of the posterior longitudinal ligament of the spine skeletal system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011230 MONDO:0023603 False ossification of the posterior longitudinal ligament of the spine hereditary disorder of connective tissue UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011231 MONDO:0000032 False febrile seizures, familial, 2 febrile seizures, familial UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0011233 MONDO:0100235 False Axenfeld-Rieger syndrome type 3 FOXC1-related anterior segment dysgenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011235 MONDO:0018230 False pelvic dysplasia-arthrogryposis of lower limbs syndrome skeletal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011235 MONDO:0018234 False pelvic dysplasia-arthrogryposis of lower limbs syndrome dysostosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011236 MONDO:0015624 False hyperinsulinism due to glucokinase deficiency diazoxide-sensitive diffuse hyperinsulinism UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011236 MONDO:0017688 False hyperinsulinism due to glucokinase deficiency disorder of glycolysis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011237 MONDO:0020573 False hyperlipidemia, combined, 1 inherited disease susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011238 MONDO:0007321 False chondrodysplasia punctata, brachytelephalangic, autosomal autosomal dominant chondrodysplasia punctata UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0011239 MONDO:0002254 False colobomatous macrophthalmia-microcornea syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -20588,28 +24838,17 @@ MONDO:0011240 MONDO:0100283 False megalencephaly-capillary malformation-polymicr MONDO:0011241 MONDO:0003847 False pseudoacromegaly with severe insulin resistance hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011242 MONDO:0019524 False Bartter disease type 4A Bartter syndrome type 4 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011243 MONDO:0003847 False grange syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011243 MONDO:0015161 False grange syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011244 MONDO:0002254 False Marshall-Smith syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0011244 MONDO:0015160 False Marshall-Smith syndrome multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011244 MONDO:0018230 False Marshall-Smith syndrome skeletal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011244 MONDO:0019716 False Marshall-Smith syndrome overgrowth syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011245 MONDO:0018781 False ichthyosis, hystrix-like, with hearing loss KID syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING -MONDO:0011246 MONDO:0018117 False megaconial type congenital muscular dystrophy disorder of phospholipids, sphingolipids and fatty acids biosynthesis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011246 MONDO:0019950 False megaconial type congenital muscular dystrophy congenital muscular dystrophy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0011247 MONDO:0003847 False jejunal atresia with renal adysplasia hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011248 MONDO:0002254 False distal monosomy 13q syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011248 MONDO:0016911 False distal monosomy 13q partial deletion of the long arm of chromosome 13 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011249 MONDO:0007492 False torsion dystonia with onset in infancy early-onset generalized limb-onset dystonia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS MONDO:0011250 MONDO:0003847 False microcephaly, macrotia, and intellectual disability hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011251 MONDO:0003847 False facial dysmorphism, cleft palate, hearing loss, and camptodactyly hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011252 MONDO:0100510 False spondyloepimetaphyseal dysplasia, Shohat type spondyloepimetaphyseal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011253 MONDO:0015338 False craniomicromelic syndrome syndromic craniosynostosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011254 MONDO:0003847 False brachydactyly, intraventricular septal defect, and deafness hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011255 MONDO:0015483 False mandibulofacial dysostosis-macroblepharon-macrostomia syndrome mandibulofacial dysostosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011255 MONDO:0018234 False mandibulofacial dysostosis-macroblepharon-macrostomia syndrome dysostosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011256 MONDO:0003847 False emphysema, congenital, with deafness, penoscrotal web, and intellectual disability hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011257 MONDO:0002254 False MPI-congenital disorder of glycosylation syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0011257 MONDO:0017740 False MPI-congenital disorder of glycosylation disorder of protein N-glycosylation UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011257 MONDO:0019313 False MPI-congenital disorder of glycosylation lymphatic malformation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS MONDO:0011258 MONDO:0003847 False branchiootic syndrome 1 hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011258 MONDO:0018878 False branchiootic syndrome 1 branchiootic syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -20618,10 +24857,7 @@ MONDO:0011260 MONDO:0003847 False pancreatic lymphoma, familial hereditary disea MONDO:0011261 MONDO:0016761 False spondyloepiphyseal dysplasia with coronal craniosynostosis, cataracts, cleft palate, and intellectual disability spondyloepiphyseal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0011262 MONDO:0002254 False camptodactyly, myopia, and fibrosis of the medial rectus muscle of eye syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011262 MONDO:0003847 False camptodactyly, myopia, and fibrosis of the medial rectus muscle of eye hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011262 MONDO:0015161 False camptodactyly, myopia, and fibrosis of the medial rectus muscle of eye multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011262 MONDO:0018234 False camptodactyly, myopia, and fibrosis of the medial rectus muscle of eye dysostosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011263 MONDO:0003847 False skeletal dysplasia and progressive central nervous system degeneration, lethal hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011264 MONDO:0000476 False torsion dystonia 6 generalized dystonia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0011267 MONDO:0003847 False intellectual disability, severe, with spasticity and pigmentary tapetoretinal degeneration hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011268 MONDO:0001909 False renal tubular acidosis, distal, 3, with or without sensorineural hearing loss renal tubular acidosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011268 MONDO:0015962 False renal tubular acidosis, distal, 3, with or without sensorineural hearing loss inherited renal tubular disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -20634,34 +24870,18 @@ MONDO:0011271 MONDO:0100100 False rigid spine muscular dystrophy 1 SELENON-relat MONDO:0011272 MONDO:0800391 False retinitis pigmentosa 25 EYS-related retinopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011273 MONDO:0004382 False H syndrome laryngeal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0011273 MONDO:0006412 False H syndrome sinus histiocytosis with massive lymphadenopathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011273 MONDO:0019289 False H syndrome hyperpigmentation of the skin UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011273 MONDO:0100118 False H syndrome hereditary skin disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011274 MONDO:0015338 False Muenke syndrome syndromic craniosynostosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011280 MONDO:0100182 False schizophrenia 6 schizophrenia, susceptibility to UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011282 MONDO:0003847 False tumor suppressor gene on chromosome 11 hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011284 MONDO:0004892 False astigmatism refractive error UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0011287 MONDO:0015338 False craniosynostosis-anal anomalies-porokeratosis syndrome syndromic craniosynostosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011288 MONDO:0003847 False spastic paraplegia, optic atrophy, microcephaly, and 10Y sex reversal hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011289 MONDO:0003847 False apraxia of eyelid opening hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011290 MONDO:0003847 False dislocated elbows, bowed tibias, scoliosis, deafness, cataract, microcephaly, and intellectual disability hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011291 MONDO:0017740 False ALG6-congenital disorder of glycosylation 1C disorder of protein N-glycosylation UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011294 MONDO:0005090 False schizophrenia 5 schizophrenia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS -MONDO:0011295 MONDO:0005090 False schizophrenia 7 schizophrenia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS MONDO:0011296 MONDO:0800066 False Meckel syndrome, type 2 polydactyly-syndactyly-triphalangism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011297 MONDO:0020300 False autosomal dominant nocturnal frontal lobe epilepsy 2 autosomal dominant nocturnal frontal lobe epilepsy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0011298 MONDO:0005090 False schizophrenia 8 schizophrenia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS -MONDO:0011299 MONDO:0005429 False Huntington disease-like 1 prion disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0011299 MONDO:0024237 False Huntington disease-like 1 inherited neurodegenerative disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011301 MONDO:0019992 False pseudohypoparathyroidism type 1B pseudohypoparathyroidism UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0011301 MONDO:0800466 False pseudohypoparathyroidism type 1B disorder of GNAS inactivation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011302 MONDO:0010255 False type 1 diabetes mellitus 17 diabetes mellitus, insulin-dependent, X-linked, susceptibility to UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0011303 MONDO:0019006 False focal segmental glomerulosclerosis 1 familial idiopathic steroid-resistant nephrotic syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011306 MONDO:0003847 False muscular dystrophy, congenital, with cerebellar atrophy hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011307 MONDO:0005090 False schizophrenia 2 schizophrenia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS -MONDO:0011308 MONDO:0003847 False GRACILE syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0011308 MONDO:0044970 False GRACILE syndrome mitochondrial disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011309 MONDO:0003847 False familial gestational hyperthyroidism hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0011309 MONDO:0004425 False familial gestational hyperthyroidism hyperthyroidism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0011309 MONDO:0024575 False familial gestational hyperthyroidism pregnancy disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011310 MONDO:0003847 False long chain fatty acids, defect in transport of hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011312 MONDO:0017895 False thyroid carcinoma, nonmedullary, with or without cell oxyphilia familial papillary or follicular thyroid carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -20677,19 +24897,11 @@ MONDO:0011323 MONDO:0003847 False arhinia, choanal atresia, and microphthalmia h MONDO:0011326 MONDO:0016603 False citrullinemia, type II, adult-onset citrullinemia type II UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011327 MONDO:0005395 False neuronal intranuclear inclusion disease movement disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0011327 MONDO:0015547 False neuronal intranuclear inclusion disease hereditary dementia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011327 MONDO:0024237 False neuronal intranuclear inclusion disease inherited neurodegenerative disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011330 MONDO:0019794 False spinocerebellar ataxia type 10 autosomal dominant cerebellar ataxia type IV UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011331 MONDO:0002037 False congenital chylothorax pleural disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0011331 MONDO:0017015 False congenital chylothorax primary interstitial lung disease specific to childhood UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011332 MONDO:0003847 False Dyserythropoiesis, congenital, with ultrastructurally normal erythroblast heterochromatin hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011334 MONDO:0019287 False limb-mammary syndrome ectodermal dysplasia syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING -MONDO:0011335 MONDO:0000426 False spondyloepimetaphyseal dysplasia with multiple dislocations autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0011338 MONDO:0017855 False Omenn syndrome T-B- severe combined immunodeficiency UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011338 MONDO:0031520 False Omenn syndrome familial severe combined immunodeficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0011339 MONDO:0015149 False hereditary spastic paraplegia 8 pure hereditary spastic paraplegia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011340 MONDO:0024623 False congenital tracheal stenosis otorhinolaryngologic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011341 MONDO:0003847 False microcephaly, facial abnormalities, micromelia, and intellectual disability hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011342 MONDO:0017749 False SLC35A1-congenital disorder of glycosylation disorder of multiple glycosylation UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011343 MONDO:0003847 False follicular atrophoderma, perioral pigmented, with milia and epidermoid cysts hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011344 MONDO:0003847 False parotitis, juvenile recurrent hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011345 MONDO:0003847 False facial dysmorphism, selective tooth agenesis, and choroid calcification hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -20702,17 +24914,11 @@ MONDO:0011354 MONDO:0010029 False situs inversus totalis with cystic dysplasia o MONDO:0011356 MONDO:0003847 False exostosis, Dupuytren subungual hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011357 MONDO:0003847 False eccrine syringofibroadenomatosis with eyelid abnormalities hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011358 MONDO:0003847 False blue nevi, familial multiple hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011359 MONDO:0016643 False acromelic frontonasal dysostosis frontonasal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS -MONDO:0011359 MONDO:0018237 False acromelic frontonasal dysostosis acrofacial dysostosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0011361 MONDO:0015356 False prostate cancer/brain cancer susceptibility hereditary neoplastic syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011362 MONDO:0016106 False myopathy, myofibrillar, 9, with early respiratory failure progressive muscular dystrophy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011362 MONDO:0016108 False myopathy, myofibrillar, 9, with early respiratory failure autosomal dominant distal myopathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011362 MONDO:0016112 False myopathy, myofibrillar, 9, with early respiratory failure hereditary inclusion-body myopathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011362 MONDO:0100494 False myopathy, myofibrillar, 9, with early respiratory failure autosomal dominant titinopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011363 MONDO:0005148 False diabetes mellitus, noninsulin-dependent, 3 type 2 diabetes mellitus UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0011363 MONDO:0015967 False diabetes mellitus, noninsulin-dependent, 3 monogenic diabetes UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011365 MONDO:0000734 False blepharophimosis - intellectual disability syndrome, SBBYS type Ohdo syndrome and variants UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0011365 MONDO:0002254 False blepharophimosis - intellectual disability syndrome, SBBYS type syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0011365 MONDO:0003847 False blepharophimosis - intellectual disability syndrome, SBBYS type hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0011365 MONDO:0005151 False blepharophimosis - intellectual disability syndrome, SBBYS type endocrine system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0011367 MONDO:0003847 False Acrodysplasia with ossification abnormalities, short stature, and fibular hypoplasia hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -20722,34 +24928,23 @@ MONDO:0011371 MONDO:0018024 False hydroa vacciniforme, familial hydroa vaccinifo MONDO:0011371 MONDO:0100118 False hydroa vacciniforme, familial hereditary skin disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011372 MONDO:0016660 False microcephaly with simplified gyral pattern autosomal recessive primary microcephaly UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0011373 MONDO:0015979 False urinary tract infections, recurrent, susceptibility to hereditary predisposition to infections UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011374 MONDO:0019052 False hypercholesterolemia, familial, 4 inborn errors of metabolism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0011374 MONDO:0037748 False hypercholesterolemia, familial, 4 hyperlipoproteinemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011375 MONDO:0019019 False brittle bone disorder osteogenesis imperfecta UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0011376 MONDO:0003847 False ventricular fibrillation, paroxysmal familial, type 1 hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011376 MONDO:0100234 False ventricular fibrillation, paroxysmal familial, type 1 paroxysmal familial ventricular fibrillation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011381 MONDO:0019402 False dominant beta-thalassemia beta thalassemia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0011382 MONDO:0006025 False sickle cell anemia autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0011384 MONDO:0020573 False hypertension, essential, susceptibility to, 1 inherited disease susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011385 MONDO:0000812 False intervertebral disk degenerative disorder vertebral column disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0011385 MONDO:0003847 False intervertebral disk degenerative disorder hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0011387 MONDO:0100171 False psoriasis 4, susceptibility to psoriasis, susceptibility to UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011391 MONDO:0000137 False megalencephalic leukoencephalopathy with subcortical cysts leukoencephalopathy, megalencephalic UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011391 MONDO:0019046 False megalencephalic leukoencephalopathy with subcortical cysts leukodystrophy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0011393 MONDO:0017773 False hypoalphalipoproteinemia, primary, 1 hypoalphalipoproteinemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011393 MONDO:0019052 False hypoalphalipoproteinemia, primary, 1 inborn errors of metabolism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0011395 MONDO:0800406 False cone-rod dystrophy 3 ABCA4-related retinopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011396 MONDO:0017666 False loricrin keratoderma diffuse palmoplantar keratoderma UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011397 MONDO:0003406 False autosomal dominant cerebellar ataxia, deafness and narcolepsy sleep-wake disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0011397 MONDO:0019792 False autosomal dominant cerebellar ataxia, deafness and narcolepsy autosomal dominant cerebellar ataxia type I UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011398 MONDO:0006543 False dystrophic epidermolysis bullosa pruriginosa epidermolysis bullosa dystrophica UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011400 MONDO:0016191 False dilated cardiomyopathy 1G qualitative or quantitative defects of titin UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011401 MONDO:0015140 False Alzheimer disease without neurofibrillary tangles early-onset autosomal dominant Alzheimer disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011402 MONDO:0002320 False congenital cataracts-facial dysmorphism-neuropathy syndrome congenital nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011402 MONDO:0015159 False congenital cataracts-facial dysmorphism-neuropathy syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011402 MONDO:0016949 False congenital cataracts-facial dysmorphism-neuropathy syndrome partial duplication of the short arm of chromosome 16 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011402 MONDO:0020046 False congenital cataracts-facial dysmorphism-neuropathy syndrome autosomal recessive degenerative and progressive cerebellar ataxia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011404 MONDO:0003847 False Caronte hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011405 MONDO:0015134 False poikiloderma with neutropenia constitutional neutropenia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011405 MONDO:0016382 False poikiloderma with neutropenia hereditary poikiloderma UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011405 MONDO:0100118 False poikiloderma with neutropenia hereditary skin disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011406 MONDO:0003847 False cholesteatoma, congenital hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011407 MONDO:0017627 False facial paresis, hereditary congenital, 2 congenital hereditary facial paralysis-variable hearing loss syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -20757,53 +24952,33 @@ MONDO:0011409 MONDO:0000093 False hepatic fibrosis, severe, susceptibility to, d MONDO:0011410 MONDO:0003847 False Hirschsprung disease with heart defects, laryngeal anomalies, and preaxial polydactyly hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011411 MONDO:0003847 False Chudley-McCullough syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011411 MONDO:0021147 False Chudley-McCullough syndrome disorder of development or morphogenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011412 MONDO:0020074 False familial encephalopathy with neuroserpin inclusion bodies progressive myoclonus epilepsy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS MONDO:0011412 MONDO:0100198 False familial encephalopathy with neuroserpin inclusion bodies Mendelian encephalopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011414 MONDO:0000942 False Peters anomaly corneal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0011418 MONDO:0020573 False dyslexia, susceptibility to, 3 inherited disease susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011419 MONDO:0003847 False camera-Marugo-Cohen syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011420 MONDO:0006909 False short stature due to partial GHR deficiency pituitary dwarfism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011420 MONDO:0015892 False short stature due to partial GHR deficiency growth hormone insensitivity syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011421 MONDO:0000066 False mitochondrial complex V (ATP synthase) deficiency, nuclear type 1 mitochondrial complex deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011422 MONDO:0006025 False autosomal recessive proximal renal tubular acidosis autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011422 MONDO:0008369 False autosomal recessive proximal renal tubular acidosis proximal renal tubular acidosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING -MONDO:0011422 MONDO:0015962 False autosomal recessive proximal renal tubular acidosis inherited renal tubular disease UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011422 MONDO:0019052 False autosomal recessive proximal renal tubular acidosis inborn errors of metabolism UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011423 MONDO:0016142 False autosomal recessive limb-girdle muscular dystrophy type 2E qualitative or quantitative defects of beta-sarcoglycan UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011423 MONDO:0016333 False autosomal recessive limb-girdle muscular dystrophy type 2E familial dilated cardiomyopathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING -MONDO:0011424 MONDO:0015079 False Carney triad multiple polyglandular tumor UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011424 MONDO:0021058 False Carney triad neoplastic syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011426 MONDO:0004884 False aceruloplasminemia eye degenerative disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0011426 MONDO:0016624 False aceruloplasminemia inherited deficiency anemia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011426 MONDO:0017763 False aceruloplasminemia disorder of iron metabolism and transport UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011426 MONDO:0018307 False aceruloplasminemia neurodegeneration with brain iron accumulation UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS -MONDO:0011426 MONDO:0019118 False aceruloplasminemia inherited retinal dystrophy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0011427 MONDO:0015979 False Ascaris lumbricoides infection, susceptibility to hereditary predisposition to infections UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011428 MONDO:0010004 False ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3 EEC syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS MONDO:0011429 MONDO:0005554 False juvenile idiopathic arthritis rheumatic disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0011429 MONDO:0700007 False juvenile idiopathic arthritis idiopathic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011430 MONDO:0011060 False pulverulent cataract early-onset non-syndromic cataract UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011431 MONDO:0016663 False MASS syndrome overlapping connective tissue disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011431 MONDO:0023603 False MASS syndrome hereditary disorder of connective tissue UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011432 MONDO:0017393 False blepharophimosis - intellectual disability syndrome, Verloes type blepharophimosis - intellectual disability syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011433 MONDO:0003847 False anemia, congenital hypoplastic, with multiple congenital anomalies/intellectual disability syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011434 MONDO:0100171 False psoriasis 5, susceptibility to psoriasis, susceptibility to UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011436 MONDO:0001516 False autosomal recessive distal spinal muscular atrophy 1 spinal muscular atrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0011436 MONDO:0015363 False autosomal recessive distal spinal muscular atrophy 1 neuronopathy, distal hereditary motor, autosomal recessive UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS -MONDO:0011438 MONDO:0006607 False acne sebaceous gland disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0011438 MONDO:0002406 False acne dermatitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0011438 MONDO:0100118 False acne hereditary skin disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011439 MONDO:0019792 False spinocerebellar ataxia type 12 autosomal dominant cerebellar ataxia type I UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011440 MONDO:0020573 False hypertension, essential, susceptibility to, 2 inherited disease susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011441 MONDO:0019369 False complex regional pain syndrome type 1 complex regional pain syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0011441 MONDO:0002254 False complex regional pain syndrome type 1 syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0011445 MONDO:0015150 False hereditary spastic paraplegia 11 complex hereditary spastic paraplegia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011446 MONDO:0003847 False myoclonic epilepsy, congenital deafness, macular dystrophy, and psychiatric disorders hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011449 MONDO:0017706 False Salla disease disorder of carbohydrate transmembrane transport and absorption UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011449 MONDO:0019366 False Salla disease free sialic acid storage disease UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011451 MONDO:0015487 False cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1 fatal infantile encephalocardiomyopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0011452 MONDO:0008686 False hypotrichosis 7 isolated familial wooly hair disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0011452 MONDO:0018914 False hypotrichosis 7 hypotrichosis simplex UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011453 MONDO:0003847 False ulnar ray dysgenesis with postaxial polydactyly and renal cystic dysplasia hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011454 MONDO:0005267 False patent ductus arteriosus-bicuspid aortic valve-hand anomalies syndrome heart disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011454 MONDO:0016432 False patent ductus arteriosus-bicuspid aortic valve-hand anomalies syndrome heart-hand syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011455 MONDO:0003847 False lissencephaly, familial, with cleft palate and cerebellar hypoplasia hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011457 MONDO:0024237 False ataxia-telangiectasia-like disorder inherited neurodegenerative disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011458 MONDO:0015993 False Leber congenital amaurosis 4 cone-rod dystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS @@ -20811,50 +24986,32 @@ MONDO:0011458 MONDO:0100438 False Leber congenital amaurosis 4 AIPL1-related ret MONDO:0011462 MONDO:0005046 False pyogenic arthritis-pyoderma gangrenosum-acne syndrome immune system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0011462 MONDO:0023603 False pyogenic arthritis-pyoderma gangrenosum-acne syndrome hereditary disorder of connective tissue UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011463 MONDO:0003847 False polyneuropathy, lethal neonatal, axonal sensorimotor, autosomal recessive hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011464 MONDO:0019793 False spinocerebellar ataxia type 11 autosomal dominant cerebellar ataxia type III UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011465 MONDO:0100118 False infundibulocystic basal cell carcinoma hereditary skin disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011466 MONDO:0016108 False distal myopathy, Welander type autosomal dominant distal myopathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011468 MONDO:0002316 False hereditary motor and sensory neuropathy, Okinawa type motor peripheral neuropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011468 MONDO:0020127 False hereditary motor and sensory neuropathy, Okinawa type hereditary peripheral neuropathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011469 MONDO:0000577 False congenital amegakaryocytic thrombocytopenia congenital anemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011469 MONDO:0001713 False congenital amegakaryocytic thrombocytopenia inherited aplastic anemia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0011469 MONDO:0100241 False congenital amegakaryocytic thrombocytopenia inherited thrombocytopenia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0011470 MONDO:0001336 False hyperlipidemia, combined, 2 familial hyperlipidemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011472 MONDO:0015550 False epidermolysis bullosa simplex due to plakophilin deficiency suprabasal epidermolysis bullosa simplex UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011472 MONDO:0019287 False epidermolysis bullosa simplex due to plakophilin deficiency ectodermal dysplasia syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0011473 MONDO:0100445 False Leber congenital amaurosis 5 LCA5-related retinopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011475 MONDO:0018995 False Charcot-Marie-Tooth disease type 4B2 Charcot-Marie-Tooth disease type 4 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0011476 MONDO:0015131 False MHC class I deficiency combined immunodeficiency UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0011478 MONDO:0003847 False growth and developintellectual disability, ocular ptosis, cardiac defect, and anal atresia hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011479 MONDO:0000992 False postural orthostatic tachycardia syndrome heart conduction disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0011479 MONDO:0021272 False postural orthostatic tachycardia syndrome inherited orthostatic hypotension UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING -MONDO:0011481 MONDO:0015338 False craniosynostosis 2 syndromic craniosynostosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011482 MONDO:0016187 False dilated cardiomyopathy 1I qualitative or quantitative defects of desmin UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011483 MONDO:0003847 False polycystic bone disease hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011484 MONDO:0016342 False catecholaminergic polymorphic ventricular tachycardia 1 familial isolated arrhythmogenic right ventricular dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0011485 MONDO:0017778 False autosomal recessive congenital ichthyosis 5 lamellar ichthyosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011486 MONDO:0019950 False congenital muscular dystrophy 1B congenital muscular dystrophy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0011487 MONDO:0005395 False Huntington disease-like 3 movement disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011487 MONDO:0015548 False Huntington disease-like 3 Huntington disease-like syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011489 MONDO:0015149 False hereditary spastic paraplegia 12 pure hereditary spastic paraplegia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011490 MONDO:0005002 False diffuse panbronchiolitis chronic obstructive pulmonary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0011491 MONDO:0020573 False epilepsy, idiopathic generalized, susceptibility to, 7 inherited disease susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011492 MONDO:0003847 False mandibulofacial dysostosis syndrome, Bauru type hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011494 MONDO:0003847 False hyaluronan metabolism, defect 1N hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011496 MONDO:0016761 False mild spondyloepiphyseal dysplasia due to COL2A1 mutation with early-onset osteoarthritis spondyloepiphyseal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011496 MONDO:0022800 False mild spondyloepiphyseal dysplasia due to COL2A1 mutation with early-onset osteoarthritis type 2 collagenopathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011497 MONDO:0015762 False hereditary North American Indian childhood cirrhosis progressive familial intrahepatic cholestasis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0011498 MONDO:0100182 False schizophrenia 9 schizophrenia, susceptibility to UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011500 MONDO:0005073 False Becker nevus syndrome melanocytic nevus UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011500 MONDO:0019755 False Becker nevus syndrome developmental defect during embryogenesis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011500 MONDO:0100118 False Becker nevus syndrome hereditary skin disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011501 MONDO:0002081 False wormian bone-multiple fractures-dentinogenesis imperfecta-skeletal dysplasia musculoskeletal system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011501 MONDO:0003847 False wormian bone-multiple fractures-dentinogenesis imperfecta-skeletal dysplasia hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011502 MONDO:0003847 False Wolfram syndrome 2 hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0011502 MONDO:0018105 False Wolfram syndrome 2 Wolfram syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0011504 MONDO:0015660 False NDE1-related microhydranencephaly sporadic fetal brain disruption sequence UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011504 MONDO:0700116 False NDE1-related microhydranencephaly microcephaly with lissencephaly and/or hydranencephaly UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011505 MONDO:0017774 False familial hypobetalipoproteinemia 2 hypobetalipoproteinemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0011506 MONDO:0016022 False familial infantile myoclonic epilepsy early myoclonic encephalopathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011507 MONDO:0003847 False diabetes mellitus, congenital autoimmune hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011508 MONDO:0018908 False lymphoma, non-Hodgkin, familial non-Hodgkin lymphoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -20862,80 +25019,46 @@ MONDO:0011509 MONDO:0003847 False low density lipoprotein cholesterol, mild elev MONDO:0011510 MONDO:0000508 False Bohring-Opitz syndrome syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011510 MONDO:0002320 False Bohring-Opitz syndrome congenital nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011510 MONDO:0003847 False Bohring-Opitz syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011510 MONDO:0015159 False Bohring-Opitz syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011511 MONDO:0003847 False clavicular hypoplasia, zygomatic arch hypoplasia, and micrognathia hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011512 MONDO:0000426 False Brooke-Spiegler syndrome autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0011512 MONDO:0015356 False Brooke-Spiegler syndrome hereditary neoplastic syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011513 MONDO:0015140 False Alzheimer disease, familial early-onset, with coexisting amyloid and prion pathology early-onset autosomal dominant Alzheimer disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011514 MONDO:0003847 False tricuspid atresia hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0011514 MONDO:0020289 False tricuspid atresia congenital tricuspid malformation UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011514 MONDO:0005453 False tricuspid atresia congenital heart disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0011516 MONDO:0003847 False early response to neural induction gene hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011517 MONDO:0003847 False pseudohyperaldosteronism type 2 hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011517 MONDO:0024575 False pseudohyperaldosteronism type 2 pregnancy disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011518 MONDO:0003847 False Wiedemann-Steiner syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011518 MONDO:0015159 False Wiedemann-Steiner syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011520 MONDO:0020573 False systemic lupus erythematosus, susceptibility to, 2 inherited disease susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011524 MONDO:0016537 False Dianzani autoimmune lymphoproliferative disease lymphoproliferative syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0011525 MONDO:0015285 False Carney complex type 2 Carney complex UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011527 MONDO:0018995 False Charcot-Marie-Tooth disease type 4E Charcot-Marie-Tooth disease type 4 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0011528 MONDO:0006025 False hyper-IgM syndrome type 2 autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0011529 MONDO:0019792 False spinocerebellar ataxia type 13 autosomal dominant cerebellar ataxia type I UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011530 MONDO:0018230 False mesomelic dysplasia, Savarirayan type skeletal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011530 MONDO:0023599 False mesomelic dysplasia, Savarirayan type mesomelic dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011533 MONDO:0002254 False temtamy preaxial brachydactyly syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0011533 MONDO:0005172 False temtamy preaxial brachydactyly syndrome skeletal system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011533 MONDO:0006025 False temtamy preaxial brachydactyly syndrome autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0011533 MONDO:0015286 False temtamy preaxial brachydactyly syndrome congenital disorder of glycosylation UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0011533 MONDO:0015327 False temtamy preaxial brachydactyly syndrome developmental anomaly of metabolic origin UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011533 MONDO:0019054 False temtamy preaxial brachydactyly syndrome congenital limb malformation UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011534 MONDO:0002316 False Charcot-Marie-Tooth disease type 4G motor peripheral neuropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0011534 MONDO:0017688 False Charcot-Marie-Tooth disease type 4G disorder of glycolysis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011534 MONDO:0018995 False Charcot-Marie-Tooth disease type 4G Charcot-Marie-Tooth disease type 4 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0011537 MONDO:0000426 False macrocephaly-autism syndrome autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0011537 MONDO:0021147 False macrocephaly-autism syndrome disorder of development or morphogenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011538 MONDO:0003847 False frontoocular syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011540 MONDO:0019792 False spinocerebellar ataxia type 14 autosomal dominant cerebellar ataxia type I UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011542 MONDO:0100171 False psoriasis 6, susceptibility to psoriasis, susceptibility to UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011544 MONDO:0017366 False paragangliomas 3 hereditary pheochromocytoma-paraganglioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011544 MONDO:0021227 False paragangliomas 3 adrenal gland neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011545 MONDO:0020300 False autosomal dominant nocturnal frontal lobe epilepsy 3 autosomal dominant nocturnal frontal lobe epilepsy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0011546 MONDO:0000153 False heterotaxy, visceral, 2, autosomal transposition of the great arteries UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011547 MONDO:0011060 False cataract 31 multiple types early-onset non-syndromic cataract UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0011548 MONDO:0000397 False cerebral palsy, ataxic, autosomal recessive ataxic cerebral palsy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011549 MONDO:0018914 False hypotrichosis 1 hypotrichosis simplex UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011550 MONDO:0003847 False fibromatosis, gingival, with hypertrichosis and intellectual disability hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011551 MONDO:0006025 False TH-deficient dopa-responsive dystonia autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011551 MONDO:0016812 False TH-deficient dopa-responsive dystonia dopa-responsive dystonia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011551 MONDO:0017307 False TH-deficient dopa-responsive dystonia disorder of tyrosine metabolism UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011551 MONDO:0100064 False TH-deficient dopa-responsive dystonia tyrosine hydroxylase deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011552 MONDO:0005090 False schizophrenia 10 schizophrenia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS MONDO:0011555 MONDO:0009332 False radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome congenital hematological disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011555 MONDO:0018234 False radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome dysostosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011555 MONDO:0018795 False radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome syndromic constitutional thrombocytopenia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011555 MONDO:0019054 False radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome congenital limb malformation UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011556 MONDO:0100047 False basal cell carcinoma, susceptibility to, 1 basal cell carcinoma, susceptibility to UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011557 MONDO:0024237 False radiation sensitivity/chromosome instability syndrome, autosomal dominant inherited neurodegenerative disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011560 MONDO:0020573 False systemic lupus erythematosus, susceptibility to, 3 inherited disease susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011561 MONDO:0015140 False Alzheimer disease 6 early-onset autosomal dominant Alzheimer disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011562 MONDO:0008199 False autosomal dominant Parkinson disease 4 late-onset Parkinson disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS -MONDO:0011569 MONDO:0018993 False Charcot-Marie-Tooth disease type 2B1 Charcot-Marie-Tooth disease type 2 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0011569 MONDO:0021106 False Charcot-Marie-Tooth disease type 2B1 laminopathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011570 MONDO:0018993 False Charcot-Marie-Tooth disease type 2B2 Charcot-Marie-Tooth disease type 2 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0011571 MONDO:0007441 False deafness, autosomal dominant 39, with dentinogenesis imperfecta 1 dentinogenesis imperfecta type 2 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0011572 MONDO:0010255 False type 1 diabetes mellitus 18 diabetes mellitus, insulin-dependent, X-linked, susceptibility to UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0011573 MONDO:0100171 False psoriasis 7, susceptibility to psoriasis, susceptibility to UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011574 MONDO:0003847 False tetralogy of fallot syndrome, autosomal recessive hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011575 MONDO:0015159 False cerebrooculonasal syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011576 MONDO:0036591 False familial hyperaldosteronism type II adrenal cortex neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011577 MONDO:0007827 False myopathy, proximal, and ophthalmoplegia inclusion body myositis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS -MONDO:0011577 MONDO:0019952 False myopathy, proximal, and ophthalmoplegia congenital myopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS -MONDO:0011578 MONDO:0017896 False familial papillary thyroid carcinoma with renal papillary neoplasia familial nonmedullary thyroid carcinoma UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING -MONDO:0011579 MONDO:0019118 False late-onset retinal degeneration inherited retinal dystrophy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0011580 MONDO:0008935 False cerebellar ataxia and hypergonadotropic hypogonadism cerebellar ataxia-hypogonadism syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING -MONDO:0011581 MONDO:0019287 False arrhythmogenic cardiomyopathy with wooly hair and keratoderma ectodermal dysplasia syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS MONDO:0011581 MONDO:0100080 False arrhythmogenic cardiomyopathy with wooly hair and keratoderma cardioectodermal syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011585 MONDO:0001516 False autosomal recessive distal spinal muscular atrophy 2 spinal muscular atrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0011585 MONDO:0015363 False autosomal recessive distal spinal muscular atrophy 2 neuronopathy, distal hereditary motor, autosomal recessive UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS MONDO:0011587 MONDO:0020372 False cataract 25 early-onset sutural cataract UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011588 MONDO:0021181 False platelet-type bleeding disorder 12 inherited blood coagulation disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011590 MONDO:0003847 False anisomastia hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -20944,14 +25067,9 @@ MONDO:0011594 MONDO:0003847 False ovarian dysgenesis, hypergonadotropic, with sh MONDO:0011596 MONDO:0100178 False dermatitis, atopic, 2 dermatitis, atopic, susceptibility to UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011597 MONDO:0100178 False dermatitis, atopic, 3 dermatitis, atopic, susceptibility to UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011598 MONDO:0100178 False dermatitis, atopic, 4 dermatitis, atopic, susceptibility to UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011599 MONDO:0006918 False birdshot chorioretinopathy posterior uveitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0011600 MONDO:0020344 False congenital myasthenic syndrome 4A postsynaptic congenital myasthenic syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011601 MONDO:0016602 False neonatal intrahepatic cholestasis due to citrin deficiency citrin deficiency UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011603 MONDO:0007827 False GNE myopathy inclusion body myositis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS MONDO:0011603 MONDO:0009332 False GNE myopathy congenital hematological disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011603 MONDO:0016112 False GNE myopathy hereditary inclusion-body myopathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011603 MONDO:0017749 False GNE myopathy disorder of multiple glycosylation UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011603 MONDO:0018795 False GNE myopathy syndromic constitutional thrombocytopenia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011604 MONDO:0020247 False spondylo-ocular syndrome congenital vitreoretinal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011604 MONDO:0800064 False spondylo-ocular syndrome osteogenesis imperfecta and a reduction of bone mineral density. UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011605 MONDO:0100118 False generalized basaloid follicular hamartoma syndrome hereditary skin disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -20961,66 +25079,41 @@ MONDO:0011608 MONDO:0100178 False dermatitis, atopic, 5 dermatitis, atopic, susc MONDO:0011609 MONDO:0100178 False dermatitis, atopic, 6 dermatitis, atopic, susceptibility to UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011610 MONDO:0100477 False dimethylglycine dehydrogenase deficiency disorder of methylamine metabolism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011611 MONDO:0003847 False short stature, intellectual disability, callosal agenesis, Heminasal hypoplasia, microphthalmia, and atypical clefting hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011612 MONDO:0004736 False glycine encephalopathy inborn disorder of amino acid metabolism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0011612 MONDO:0019239 False glycine encephalopathy inborn disorder of serine family metabolism UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011613 MONDO:0017279 False autosomal recessive early-onset Parkinson disease 6 young-onset Parkinson disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0011614 MONDO:0017713 False 3-hydroxy-3-methylglutaryl-CoA synthase deficiency disorder of fatty acid oxidation and ketogenesis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011612 MONDO:0005560 False glycine encephalopathy brain disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0011615 MONDO:0002242 False East Texas bleeding disorder coagulation protein disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011615 MONDO:0002243 False East Texas bleeding disorder hemorrhagic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011617 MONDO:0003847 False arthropathy, erosive hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011618 MONDO:0003847 False liver fibrocystic disease and polydactyly hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011619 MONDO:0003847 False crumpled helices and small mouth hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011620 MONDO:0018230 False metaphyseal dysplasia, Braun-Tinschert type skeletal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011621 MONDO:0019054 False acropectoral syndrome congenital limb malformation UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011621 MONDO:0800066 False acropectoral syndrome polydactyly-syndactyly-triphalangism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011622 MONDO:0020573 False nephrolithiasis, uric acid, susceptibility to inherited disease susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011624 MONDO:0019231 False transaldolase deficiency inborn disorder of pentose phosphate metabolism UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011626 MONDO:0003847 False acromegaloid features, overgrowth, cleft palate, and hernia hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011628 MONDO:0019215 False propionic acidemia classic organic aciduria UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011629 MONDO:0017740 False MOGS-congenital disorder of glycosylation disorder of protein N-glycosylation UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011633 MONDO:0002316 False Charcot-Marie-Tooth disease axonal type 2C motor peripheral neuropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0011633 MONDO:0018993 False Charcot-Marie-Tooth disease axonal type 2C Charcot-Marie-Tooth disease type 2 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0011634 MONDO:0005336 False rippling muscle disease myopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011636 MONDO:0002254 False Diamond-Blackfan anemia 2 syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0011637 MONDO:0003847 False Sener syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011638 MONDO:0015548 False neuroferritinopathy Huntington disease-like syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011638 MONDO:0017763 False neuroferritinopathy disorder of iron metabolism and transport UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011640 MONDO:0002254 False genitopatellar syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011640 MONDO:0015159 False genitopatellar syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011640 MONDO:0018230 False genitopatellar syndrome skeletal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011640 MONDO:0018234 False genitopatellar syndrome dysostosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011641 MONDO:0003847 False baculum, congenital absence of hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011642 MONDO:0003847 False carnitine acetyltransferase deficiency hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011644 MONDO:0002970 False pars planitis ciliary body disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0011644 MONDO:0004674 False pars planitis chorioretinitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0011644 MONDO:0006806 False pars planitis intermediate uveitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0011646 MONDO:0003847 False laryngeal abductor paralysis with cerebellar ataxia and motor neuropathy hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011647 MONDO:0015140 False Alzheimer disease 7 early-onset autosomal dominant Alzheimer disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011648 MONDO:0016642 False radiation-induced meningioma meningioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011650 MONDO:0020573 False atrioventricular septal defect, susceptibility to, 2 inherited disease susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011651 MONDO:0003847 False intellectual disability, short stature, facial anomalies, and joint dislocations hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011652 MONDO:0003847 False Phelan-McDermid syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0011652 MONDO:0022760 False Phelan-McDermid syndrome chromosome 22q deletion UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011653 MONDO:0017895 False thyroid cancer, nonmedullary, 3 familial papillary or follicular thyroid carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011654 MONDO:0003847 False intellectual disability, microcephaly, growth retardation, joint contractures, and facial dysmorphism hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011655 MONDO:0003847 False alveolar soft part sarcoma hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0011658 MONDO:0017279 False autosomal recessive early-onset Parkinson disease 7 young-onset Parkinson disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0011662 MONDO:0003847 False pathological gambling hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0011663 MONDO:0018155 False juvenile primary lateral sclerosis lateral sclerosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011663 MONDO:0100227 False juvenile primary lateral sclerosis ALS2-related motor neuron disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011669 MONDO:0002254 False hypotonia-cystinuria syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0011669 MONDO:0004069 False hypotonia-cystinuria syndrome inborn mitochondrial metabolism disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0011669 MONDO:0016884 False hypotonia-cystinuria syndrome partial deletion of the short arm of chromosome 2 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011669 MONDO:0019216 False hypotonia-cystinuria syndrome inborn disorder of amino acid transport UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011671 MONDO:0016987 False Huntington disease-like 2 neuroacanthocytosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0011672 MONDO:0003847 False persistent polyclonal B-cell lymphocytosis hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011672 MONDO:0015757 False persistent polyclonal B-cell lymphocytosis lymphoid hemopathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011674 MONDO:0019548 False Charcot-Marie-Tooth disease dominant intermediate B autosomal dominant intermediate Charcot-Marie-Tooth disease UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011675 MONDO:0019548 False Charcot-Marie-Tooth Disease, axonal, type 2GG autosomal dominant intermediate Charcot-Marie-Tooth disease UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011676 MONDO:0002320 False PHACE syndrome congenital nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011676 MONDO:0005267 False PHACE syndrome heart disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011676 MONDO:0015160 False PHACE syndrome multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011676 MONDO:0020022 False PHACE syndrome central nervous system malformation UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011677 MONDO:0003847 False Megarbane syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011678 MONDO:0016893 False homozygous 11P15-p14 deletion syndrome partial deletion of the short arm of chromosome 11 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011679 MONDO:0006025 False craniosynostosis syndrome, autosomal recessive autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -21030,241 +25123,143 @@ MONDO:0011680 MONDO:0017778 False autosomal recessive congenital ichthyosis 3 la MONDO:0011680 MONDO:0019306 False autosomal recessive congenital ichthyosis 3 congenital non-bullous ichthyosiform erythroderma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011684 MONDO:0020573 False vitiligo-associated multiple autoimmune disease susceptibility 1 inherited disease susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011685 MONDO:0020573 False polysubstance abuse, susceptibility to inherited disease susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011686 MONDO:0002254 False DNA ligase IV deficiency syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0011686 MONDO:0017855 False DNA ligase IV deficiency T-B- severe combined immunodeficiency UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011686 MONDO:0021147 False DNA ligase IV deficiency disorder of development or morphogenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011687 MONDO:0018993 False Charcot-Marie-Tooth disease axonal type 2F Charcot-Marie-Tooth disease type 2 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0011688 MONDO:0700066 False muscular dystrophy-dystroglycanopathy type B5 myopathy caused by variation in FKRP UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011689 MONDO:0020573 False dyslexia, susceptibility to, 6 inherited disease susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011690 MONDO:0002254 False Camurati-Engelmann disease, type 2 syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011693 MONDO:0020573 False glaucoma, normal tension, susceptibility to inherited disease susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011694 MONDO:0019792 False spinocerebellar ataxia type 15/16 autosomal dominant cerebellar ataxia type I UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011695 MONDO:0007966 False melanoma, uveal, susceptibility to, 1 susceptibility to uveal melanoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011696 MONDO:0007966 False melanoma, uveal, susceptibility to, 2 susceptibility to uveal melanoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011697 MONDO:0019517 False Waardenburg syndrome type 2C Waardenburg syndrome type 2 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011698 MONDO:0000351 False glycine N-methyltransferase deficiency disorder of methionine catabolism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0011702 MONDO:0016144 False dilated cardiomyopathy 1L qualitative or quantitative defects of delta-sarcoglycan UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011703 MONDO:0005429 False spongiform encephalopathy with neuropsychiatric features prion disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011703 MONDO:0100198 False spongiform encephalopathy with neuropsychiatric features Mendelian encephalopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011706 MONDO:0000828 False Kufor-Rakeb syndrome juvenile-onset Parkinson disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0011706 MONDO:0018307 False Kufor-Rakeb syndrome neurodegeneration with brain iron accumulation UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS MONDO:0011710 MONDO:0000724 False specific language impairment 1 specific language impairment UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0011712 MONDO:0003847 False van der Woude syndrome 2 hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011712 MONDO:0019508 False van der Woude syndrome 2 van der Woude syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011713 MONDO:0018453 False melanoma-pancreatic cancer syndrome familial atypical multiple mole melanoma syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011714 MONDO:0003847 False partial lipodystrophy, congenital cataracts, and neurodegeneration syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011715 MONDO:0800063 False Seckel syndrome 2 primordial dwarfism and slender bone disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011716 MONDO:0019383 False acute hemorrhagic leukoencephalitis acute disseminated encephalomyelitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0011717 MONDO:0015624 False hyperinsulinism-hyperammonemia syndrome diazoxide-sensitive diffuse hyperinsulinism UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011716 MONDO:0003337 False acute hemorrhagic leukoencephalitis acute hemorrhagic encephalitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0011717 MONDO:0800153 False hyperinsulinism-hyperammonemia syndrome urea cycle disorder or inherited hyperammonemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011719 MONDO:0003847 False gastrointestinal stromal tumor hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0011719 MONDO:0018506 False gastrointestinal stromal tumor mesenchymal tumor of small intestine UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011721 MONDO:0016145 False distal myopathy with anterior tibial onset qualitative or quantitative defects of dysferlin UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011722 MONDO:0015159 False intellectual disability-obesity-prognathism-eye and skin anomalies syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011723 MONDO:0019716 False hemifacial myohyperplasia overgrowth syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011725 MONDO:0009044 False Crigler-Najjar syndrome type 2 Crigler-Najjar syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011726 MONDO:0003847 False peripheral arterial occlusive disease 1 hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011727 MONDO:0020573 False anorexia nervosa, susceptibility to, 1 inherited disease susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011728 MONDO:0000477 False benign essential blepharospasm focal dystonia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0011729 MONDO:0020573 False stroke, susceptibility to, 1 inherited disease susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011730 MONDO:0004069 False fumaric aciduria inborn mitochondrial metabolism disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0011730 MONDO:0016790 False fumaric aciduria tricarboxylic acid cycle disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011730 MONDO:0020127 False fumaric aciduria hereditary peripheral neuropathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011731 MONDO:0005020 False glucose-galactose malabsorption intestinal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011731 MONDO:0019226 False glucose-galactose malabsorption glucose transport disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011732 MONDO:0018240 False familial digital arthropathy-brachydactyly TRPV4-related bone disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011732 MONDO:0019054 False familial digital arthropathy-brachydactyly congenital limb malformation UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011733 MONDO:0003847 False parasomnia, sleep bruxism type hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011734 MONDO:0003847 False Cardioneuromyopathy with hyaline masses and nemaline rods hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011736 MONDO:0003847 False Cree intellectual disability syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011737 MONDO:0017279 False parkinson disease 10 young-onset Parkinson disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011738 MONDO:0003847 False bilateral frontoparietal polymicrogyria hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0011738 MONDO:0017091 False bilateral frontoparietal polymicrogyria bilateral polymicrogyria UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011739 MONDO:0015356 False pancreatic cancer, susceptibility to, 1 hereditary neoplastic syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011740 MONDO:0015079 False Carney-Stratakis syndrome multiple polyglandular tumor UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011740 MONDO:0015356 False Carney-Stratakis syndrome hereditary neoplastic syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011741 MONDO:0100179 False Hirschsprung disease, susceptibility to, 6 Hirschsprung disease, susceptibility to UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011742 MONDO:0100179 False Hirschsprung disease, susceptibility to, 7 Hirschsprung disease, susceptibility to UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011743 MONDO:0015140 False Alzheimer disease 4 early-onset autosomal dominant Alzheimer disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011744 MONDO:0003847 False primary intraosseous venous malformation hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011744 MONDO:0016223 False primary intraosseous venous malformation infantile hemangioma of rare localization UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011745 MONDO:0003847 False duodenojejunal atresia with volvulus, absent dorsal mesentery, and absent superior mesenteric artery hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011746 MONDO:0003847 False symphalangism, distal, with microdontia, dental pulp stones, and narrowed zygomatic arch hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011747 MONDO:0020573 False dyslexia, susceptibility to, 5 inherited disease susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011748 MONDO:0010168 False Usher syndrome type 1G Usher syndrome type 1 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0011749 MONDO:0008745 False oculocutaneous albinism type 1B oculocutaneous albinism type 1A UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS MONDO:0011753 MONDO:0020573 False epilepsy, idiopathic generalized, susceptibility to, 2 inherited disease susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011754 MONDO:0018541 False familial hyperreninemic hypoaldosteronism type 2 familial hypoaldosteronism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011757 MONDO:0021004 False brachydactyly type A1B brachydactyly UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0011758 MONDO:0016340 False Hurler syndrome familial restrictive cardiomyopathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING -MONDO:0011758 MONDO:0800088 False Hurler syndrome lysosomal storage disease with skeletal involvement UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011759 MONDO:0800088 False Hurler-Scheie syndrome lysosomal storage disease with skeletal involvement UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011760 MONDO:0800088 False Scheie syndrome lysosomal storage disease with skeletal involvement UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011764 MONDO:0008199 False autosomal dominant Parkinson disease 8 late-onset Parkinson disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS +MONDO:0011758 MONDO:0002254 False Hurler syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0011759 MONDO:0002254 False Hurler-Scheie syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0011760 MONDO:0002254 False Scheie syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0011766 MONDO:0010765 False 46,XY gonadal dysgenesis-motor and sensory neuropathy syndrome 46,XY complete gonadal dysgenesis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING -MONDO:0011766 MONDO:0020040 False 46,XY gonadal dysgenesis-motor and sensory neuropathy syndrome 46,XY disorder of sex development UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011768 MONDO:0009688 False myasthenia gravis with thymus hyperplasia myasthenia gravis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING -MONDO:0011771 MONDO:0001516 False neuronopathy, distal hereditary motor, autosomal recessive 3 spinal muscular atrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0011771 MONDO:0015363 False neuronopathy, distal hereditary motor, autosomal recessive 3 neuronopathy, distal hereditary motor, autosomal recessive UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS MONDO:0011772 MONDO:0002320 False B4GALT1-congenital disorder of glycosylation congenital nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0011772 MONDO:0015327 False B4GALT1-congenital disorder of glycosylation developmental anomaly of metabolic origin UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011772 MONDO:0017749 False B4GALT1-congenital disorder of glycosylation disorder of multiple glycosylation UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011772 MONDO:0020022 False B4GALT1-congenital disorder of glycosylation central nervous system malformation UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011773 MONDO:0016761 False anauxetic dysplasia spondyloepiphyseal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0011775 MONDO:0015356 False nasopharyngeal carcinoma, susceptibility to, 1 hereditary neoplastic syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011776 MONDO:0002081 False CINCA syndrome musculoskeletal system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0011776 MONDO:0016168 False CINCA syndrome cryopyrin-associated periodic syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011777 MONDO:0015140 False Alzheimer disease 8 early-onset autosomal dominant Alzheimer disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011778 MONDO:0016648 False multiple epiphyseal dysplasia, Al-Gazali type multiple epiphyseal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0011778 MONDO:0800463 False multiple epiphyseal dysplasia, Al-Gazali type KIF7-related ciliopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011779 MONDO:0003847 False laryngeal atresia, encephalocele, and limb deformities hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011781 MONDO:0000114 False spinocerebellar ataxia type 17 cerebelloparenchymal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011781 MONDO:0015548 False spinocerebellar ataxia type 17 Huntington disease-like syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011781 MONDO:0019792 False spinocerebellar ataxia type 17 autosomal dominant cerebellar ataxia type I UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011782 MONDO:0003847 False angioid streaks hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0011782 MONDO:0005283 False angioid streaks retinal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0011783 MONDO:0017740 False ALG12-congenital disorder of glycosylation disorder of protein N-glycosylation UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011785 MONDO:0015149 False hereditary spastic paraplegia 19 pure hereditary spastic paraplegia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011786 MONDO:0000771 False allergic rhinitis allergic respiratory disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0011787 MONDO:0016156 False autosomal recessive limb-girdle muscular dystrophy type 2I qualitative or quantitative defects of FKRP UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011787 MONDO:0700066 False autosomal recessive limb-girdle muscular dystrophy type 2I myopathy caused by variation in FKRP UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011788 MONDO:0015338 False cloverleaf skull-multiple congenital anomalies syndrome syndromic craniosynostosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011789 MONDO:0003847 False familial meningioma hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0011789 MONDO:0020573 False familial meningioma inherited disease susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011790 MONDO:0001149 False Amish lethal microcephaly microcephaly UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011790 MONDO:0100500 False Amish lethal microcephaly Mendelian neurodevelopmental disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011792 MONDO:0010132 False thyroid dyshormonogenesis 6 familial thyroid dyshormonogenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0011792 MONDO:0045046 False thyroid dyshormonogenesis 6 inherited thyroid metabolism disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011793 MONDO:0020573 False celiac disease, susceptibility to, 5 inherited disease susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011795 MONDO:0015161 False anonychia-microcephaly syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011796 MONDO:0003847 False epilepsy, partial, with pericentral spikes hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011797 MONDO:0100227 False infantile-onset ascending hereditary spastic paralysis ALS2-related motor neuron disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011798 MONDO:0003847 False hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011801 MONDO:0020127 False spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1 hereditary peripheral neuropathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011802 MONDO:0002118 False hypercalciuria, absorptive, 1 urinary system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011803 MONDO:0016387 False hereditary spastic paraplegia 7 mitochondrial oxidative phosphorylation disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011803 MONDO:0100309 False hereditary spastic paraplegia 7 hereditary ataxia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0011804 MONDO:0017979 False autoimmune lymphoproliferative syndrome type 2B autoimmune lymphoproliferative syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0011805 MONDO:0010940 False asthma-related traits, susceptibility to, 1 inherited susceptibility to asthma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING -MONDO:0011806 MONDO:0018230 False osteofibrous dysplasia skeletal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011807 MONDO:0020573 False systemic lupus erythematosus with hemolytic anemia, susceptibility to, 1 inherited disease susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011808 MONDO:0020376 False cataract 27 early-onset nuclear cataract UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011810 MONDO:0003847 False horizontal gaze palsy with progressive scoliosis hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011810 MONDO:0021147 False horizontal gaze palsy with progressive scoliosis disorder of development or morphogenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011811 MONDO:0020047 False autosomal recessive cerebellar ataxia-saccadic intrusion syndrome autosomal recessive syndromic cerebellar ataxia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011812 MONDO:0000426 False Duane-radial ray syndrome autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0011812 MONDO:0002254 False Duane-radial ray syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0011812 MONDO:0018234 False Duane-radial ray syndrome dysostosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0011812 MONDO:0019054 False Duane-radial ray syndrome congenital limb malformation UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011812 MONDO:0019713 False Duane-radial ray syndrome non-syndromic limb reduction defect UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011813 MONDO:0019673 False polydactyly, postaxial, type A3 postaxial polydactyly type A UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011815 MONDO:0020573 False hypertension, essential, susceptibility to, 3 inherited disease susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011816 MONDO:0045017 False lathosterolosis cholesterol biosynthetic process disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011817 MONDO:0020573 False coronary heart disease, susceptibility to, 1 inherited disease susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011818 MONDO:0019009 False isolated focal cortical dysplasia type II isolated focal cortical dysplasia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011819 MONDO:0019792 False spinocerebellar ataxia type 19/22 autosomal dominant cerebellar ataxia type I UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011820 MONDO:0020573 False scoliosis, isolated, susceptibility to, 2 inherited disease susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011821 MONDO:0800066 False Meckel syndrome, type 3 polydactyly-syndactyly-triphalangism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011823 MONDO:0002320 False developmental malformations-deafness-dystonia syndrome congenital nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011823 MONDO:0015161 False developmental malformations-deafness-dystonia syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011823 MONDO:0044807 False developmental malformations-deafness-dystonia syndrome inherited dystonia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0011825 MONDO:0003847 False streptococcus, group A, severity of infection by hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011827 MONDO:0003847 False patent ductus arteriosus hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0011827 MONDO:0005453 False patent ductus arteriosus congenital heart disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0011830 MONDO:0015146 False lissencephaly due to LIS1 mutation classic lissencephaly UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011833 MONDO:0019792 False spinocerebellar ataxia type 21 autosomal dominant cerebellar ataxia type I UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011834 MONDO:0019792 False spinocerebellar ataxia type 18 autosomal dominant cerebellar ataxia type I UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011827 MONDO:0005385 False patent ductus arteriosus vascular disorder UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0011835 MONDO:0002320 False sensory ataxic neuropathy, dysarthria, and ophthalmoparesis congenital nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0011835 MONDO:0009637 False sensory ataxic neuropathy, dysarthria, and ophthalmoparesis inborn mitochondrial myopathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0011835 MONDO:0015653 False sensory ataxic neuropathy, dysarthria, and ophthalmoparesis monogenic epilepsy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011835 MONDO:0016798 False sensory ataxic neuropathy, dysarthria, and ophthalmoparesis ataxia neuropathy spectrum UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011835 MONDO:0020127 False sensory ataxic neuropathy, dysarthria, and ophthalmoparesis hereditary peripheral neuropathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011835 MONDO:0100033 False sensory ataxic neuropathy, dysarthria, and ophthalmoparesis metabolic epilepsy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011836 MONDO:0003847 False thyroid Hurthle cell carcinoma hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0011836 MONDO:0005034 False thyroid Hurthle cell carcinoma thyroid gland follicular carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0011838 MONDO:0100444 False Bothnia retinal dystrophy RLBP1-related retinopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011839 MONDO:0015993 False Newfoundland cone-rod dystrophy cone-rod dystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS MONDO:0011839 MONDO:0100444 False Newfoundland cone-rod dystrophy RLBP1-related retinopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011841 MONDO:0003996 False biotin-responsive basal ganglia disease basal ganglia disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0011841 MONDO:0005527 False biotin-responsive basal ganglia disease toxic encephalopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0011842 MONDO:0017276 False GRN-related frontotemporal lobar degeneration with Tdp43 inclusions frontotemporal dementia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0011842 MONDO:0019806 False GRN-related frontotemporal lobar degeneration with Tdp43 inclusions primary progressive aphasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011843 MONDO:0016192 False hypertrophic cardiomyopathy 25 qualitative or quantitative defects of telethonin UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011843 MONDO:0016333 False hypertrophic cardiomyopathy 25 familial dilated cardiomyopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING -MONDO:0011844 MONDO:0000903 False myoclonic dystonia 15 myoclonus-dystonia syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0011846 MONDO:0020573 False bulimia nervosa, susceptibility to, 1 inherited disease susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011848 MONDO:0003847 False headache associated with sexual activity hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011849 MONDO:0002254 False psoriatic arthritis syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0011849 MONDO:0008383 False psoriatic arthritis rheumatoid arthritis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0011853 MONDO:0003847 False Camptosynpolydactyly, complex hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011854 MONDO:0003847 False secretory diarrhea, myopathy, and deafness hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011855 MONDO:0000764 False granular corneal dystrophy type II epithelial-stromal TGFBI dystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0011855 MONDO:0020213 False granular corneal dystrophy type II stromal corneal dystrophy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0011856 MONDO:0016763 False spondylometaphyseal dysplasia-bowed forearms-facial dysmorphism syndrome spondylometaphyseal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS MONDO:0011858 MONDO:0003847 False spastic paraplegia, ataxia, and intellectual disability hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011860 MONDO:0020573 False leprosy, susceptibility to, 2 inherited disease susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011861 MONDO:0003847 False breath-holding Spells hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011862 MONDO:0015150 False hereditary spastic paraplegia 24 complex hereditary spastic paraplegia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011863 MONDO:0003847 False prostate cancer aggressiveness quantitative trait locus on chromosome 19 hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011866 MONDO:0016396 False pontocerebellar hypoplasia type 1A pontocerebellar hypoplasia type 1 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0011867 MONDO:0003847 False microphthalmia with cyst, bilateral facial clefts, and limb anomalies hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011868 MONDO:0015161 False lethal congenital contracture syndrome 2 multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011869 MONDO:0015550 False epidermolysis bullosa simplex superficialis suprabasal epidermolysis bullosa simplex UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011870 MONDO:0020702 False annular epidermolytic ichthyosis autosomal dominant epidermolytic ichthyosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011871 MONDO:0006025 False Niemann-Pick disease type B autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0011871 MONDO:0017014 False Niemann-Pick disease type B interstitial lung disease specific to childhood UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011871 MONDO:0020127 False Niemann-Pick disease type B hereditary peripheral neuropathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011871 MONDO:0100464 False Niemann-Pick disease type B acid sphingomyelinase deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011872 MONDO:0015134 False Griscelli syndrome type 2 constitutional neutropenia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011872 MONDO:0015541 False Griscelli syndrome type 2 hereditary hemophagocytic lymphohistiocytosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0011873 MONDO:0018982 False Niemann-Pick disease, type C2 Niemann-Pick disease type C UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011874 MONDO:0002254 False neonatal ichthyosis-sclerosing cholangitis syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011874 MONDO:0015947 False neonatal ichthyosis-sclerosing cholangitis syndrome inherited ichthyosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011874 MONDO:0018646 False neonatal ichthyosis-sclerosing cholangitis syndrome sclerosing cholangitis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011875 MONDO:0020573 False epilepsy, idiopathic generalized, susceptibility to, 11 inherited disease susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011876 MONDO:0015653 False juvenile absence epilepsy monogenic epilepsy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011876 MONDO:0020573 False juvenile absence epilepsy inherited disease susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011876 MONDO:0100030 False juvenile absence epilepsy adolescent/adult-onset epilepsy syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011879 MONDO:0015355 False neuronopathy, distal hereditary motor, type 7B distal hereditary motor neuropathy type 7 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0011881 MONDO:0018865 False keratosis palmoplantaris striata 3 striate palmoplantar keratoderma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0011882 MONDO:0002254 False skin fragility-woolly hair-palmoplantar keratoderma syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011882 MONDO:0006025 False skin fragility-woolly hair-palmoplantar keratoderma syndrome autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011882 MONDO:0017666 False skin fragility-woolly hair-palmoplantar keratoderma syndrome diffuse palmoplantar keratoderma UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011883 MONDO:0017666 False Curly hair - acral keratoderma - caries syndrome diffuse palmoplantar keratoderma UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011883 MONDO:0019287 False Curly hair - acral keratoderma - caries syndrome ectodermal dysplasia syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING -MONDO:0011884 MONDO:0017672 False hypotrichosis-osteolysis-periodontitis-palmoplantar keratoderma syndrome focal palmoplantar keratoderma UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011884 MONDO:0019287 False hypotrichosis-osteolysis-periodontitis-palmoplantar keratoderma syndrome ectodermal dysplasia syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0011885 MONDO:0002254 False tubulointerstitial nephritis and uveitis syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011885 MONDO:0005240 False tubulointerstitial nephritis and uveitis syndrome kidney disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011886 MONDO:0015990 False torsion dystonia 13 focal, segmental or multifocal dystonia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011887 MONDO:0003847 False cataract, congenital, with mental impairment and dentate gyrus atrophy hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011888 MONDO:0015979 False immunodeficiency 67 hereditary predisposition to infections UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011889 MONDO:0011909 False Charcot-Marie-Tooth disease type 2I Charcot-Marie-Tooth disease dominant intermediate D UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS -MONDO:0011889 MONDO:0018993 False Charcot-Marie-Tooth disease type 2I Charcot-Marie-Tooth disease type 2 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0011890 MONDO:0019011 False Charcot-Marie-Tooth disease type 1D Charcot-Marie-Tooth disease type 1 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0011892 MONDO:0020573 False epilepsy, idiopathic generalized, susceptibility to, 9 inherited disease susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011894 MONDO:0018993 False Charcot-Marie-Tooth disease type 2E Charcot-Marie-Tooth disease type 2 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0011895 MONDO:0005110 False idiopathic hypereosinophilic syndrome idiopathic cardiomyopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011895 MONDO:0015691 False idiopathic hypereosinophilic syndrome hypereosinophilic syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011895 MONDO:0016340 False idiopathic hypereosinophilic syndrome familial restrictive cardiomyopathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0011896 MONDO:0020573 False Parkinson disease 11, autosomal dominant, susceptibility to inherited disease susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011898 MONDO:0012014 False Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive Charcot-Marie-Tooth disease recessive intermediate A UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0011899 MONDO:0010908 False Noonan syndrome-like disorder with loose anagen hair loose anagen syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS MONDO:0011899 MONDO:0015160 False Noonan syndrome-like disorder with loose anagen hair multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011899 MONDO:0020297 False Noonan syndrome-like disorder with loose anagen hair Noonan syndrome and Noonan-related syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011900 MONDO:0019212 False porokeratosis 4, disseminated superficial actinic type disseminated superficial actinic porokeratosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011901 MONDO:0018993 False Charcot-Marie-Tooth disease axonal type 2H Charcot-Marie-Tooth disease type 2 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0011902 MONDO:0019011 False Charcot-Marie-Tooth disease type 1F Charcot-Marie-Tooth disease type 1 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0011903 MONDO:0011909 False Charcot-Marie-Tooth disease type 2J Charcot-Marie-Tooth disease dominant intermediate D UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS -MONDO:0011903 MONDO:0018993 False Charcot-Marie-Tooth disease type 2J Charcot-Marie-Tooth disease type 2 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0011907 MONDO:0005516 False acrocapitofemoral dysplasia osteochondrodysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0011907 MONDO:0019695 False acrocapitofemoral dysplasia acromelic dysplasia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011908 MONDO:0020311 False juvenile myelomonocytic leukemia chronic myelomonocytic leukemia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0011908 MONDO:0023603 False juvenile myelomonocytic leukemia hereditary disorder of connective tissue UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011909 MONDO:0019548 False Charcot-Marie-Tooth disease dominant intermediate D autosomal dominant intermediate Charcot-Marie-Tooth disease UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011911 MONDO:0003847 False craniolenticulosutural dysplasia hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0011911 MONDO:0015161 False craniolenticulosutural dysplasia multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011913 MONDO:0015140 False Alzheimer disease 3 early-onset autosomal dominant Alzheimer disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011914 MONDO:0007670 False hypotrichosis-lymphedema-telangiectasia syndrome hypotrichosis-lymphedema-telangiectasia syndrome (grouping) UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011914 MONDO:0019313 False hypotrichosis-lymphedema-telangiectasia syndrome lymphatic malformation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS -MONDO:0011916 MONDO:0018993 False Charcot-Marie-Tooth disease axonal type 2K Charcot-Marie-Tooth disease type 2 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0011917 MONDO:0020573 False focal segmental glomerulosclerosis 3, susceptibility to inherited disease susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011918 MONDO:0003847 False anxiety hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011918 MONDO:0005618 False anxiety anxiety disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -21273,19 +25268,14 @@ MONDO:0011921 MONDO:0018751 False aural atresia, congenital hereditary otorhinol MONDO:0011922 MONDO:0003847 False nonimmune chronic idiopathic neutropenia of adults hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011922 MONDO:0700007 False nonimmune chronic idiopathic neutropenia of adults idiopathic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011923 MONDO:0020573 False osteoarthritis susceptibility 3 inherited disease susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011924 MONDO:0031240 False panic disorder 2 familial panic disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING -MONDO:0011925 MONDO:0019950 False congenital merosin-deficient muscular dystrophy 1A congenital muscular dystrophy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0011925 MONDO:0100228 False congenital merosin-deficient muscular dystrophy 1A LAMA2-related muscular dystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011926 MONDO:0100171 False psoriasis 9, susceptibility to psoriasis, susceptibility to UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011928 MONDO:0002254 False caudal duplication syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011928 MONDO:0003847 False caudal duplication hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011928 MONDO:0004335 False caudal duplication digestive system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011929 MONDO:0016883 False chromosome 1p36 deletion syndrome partial deletion of the short arm of chromosome 1 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011931 MONDO:0015356 False ovarian cancer, susceptibility to, 1 hereditary neoplastic syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011932 MONDO:0018914 False hypotrichosis 6 hypotrichosis simplex UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011933 MONDO:0017740 False ALG2-congenital disorder of glycosylation disorder of protein N-glycosylation UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011934 MONDO:0000653 False dermatofibrosarcoma protuberans integumentary system cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0011934 MONDO:0005164 False dermatofibrosarcoma protuberans fibrosarcoma UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0011934 MONDO:0023603 False dermatofibrosarcoma protuberans hereditary disorder of connective tissue UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011937 MONDO:0017339 False peeling skin syndrome 4 exfoliative ichthyosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011938 MONDO:0100009 False atrial septal defect 2 structural congenital heart disease, multiple types - GATA4 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -21295,34 +25285,20 @@ MONDO:0011941 MONDO:0000070 False mycobacterium tuberculosis, susceptibility to, MONDO:0011942 MONDO:0020573 False systemic lupus erythematosus with nephritis, susceptibility to, 1 inherited disease susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011943 MONDO:0020573 False systemic lupus erythematosus with nephritis, susceptibility to, 2 inherited disease susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011944 MONDO:0020573 False systemic lupus erythematosus with nephritis, susceptibility to, 3 inherited disease susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011945 MONDO:0018150 False Gaucher disease perinatal lethal Gaucher disease UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0011946 MONDO:0019694 False diaphanospondylodysostosis spondylodysplastic dysplasia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011949 MONDO:0003847 False Thai symphalangism syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011951 MONDO:0017161 False amyotrophic lateral sclerosis type 6 frontotemporal dementia with motor neuron disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0011953 MONDO:0100198 False familial acute necrotizing encephalopathy Mendelian encephalopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011955 MONDO:0005148 False diabetes mellitus, noninsulin-dependent, 4 type 2 diabetes mellitus UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0011955 MONDO:0015967 False diabetes mellitus, noninsulin-dependent, 4 monogenic diabetes UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011957 MONDO:0031166 False retinal macular dystrophy type 2 macular dystrophy, retinal UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0011958 MONDO:0003847 False bile and pancreatic ducts, complete absence of hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011959 MONDO:0005093 False sweet syndrome skin disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0011959 MONDO:0002254 False sweet syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0011959 MONDO:0005554 False sweet syndrome rheumatic disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0011960 MONDO:0005090 False schizophrenia 11 schizophrenia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS MONDO:0011961 MONDO:0018213 False hereditary sensory and autonomic neuropathy type 1B hereditary sensory and autonomic neuropathy type 1 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0011963 MONDO:0009480 False Joubert syndrome 2 Joubert syndrome with oculorenal defect UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING -MONDO:0011964 MONDO:0017740 False DPAGT1-congenital disorder of glycosylation disorder of protein N-glycosylation UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011968 MONDO:0016141 False autosomal recessive limb-girdle muscular dystrophy type 2D qualitative or quantitative defects of alpha-sarcoglycan UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011968 MONDO:0016333 False autosomal recessive limb-girdle muscular dystrophy type 2D familial dilated cardiomyopathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING -MONDO:0011969 MONDO:0017740 False ALG8-congenital disorder of glycosylation disorder of protein N-glycosylation UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011970 MONDO:0020072 False rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome childhood-onset epilepsy syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011972 MONDO:0003847 False ovarian hyperstimulation syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0011972 MONDO:0005558 False ovarian hyperstimulation syndrome ovarian disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0011973 MONDO:0003847 False zinc deficiency, transient neonatal hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011975 MONDO:0016779 False paternal uniparental disomy of chromosome 14 multiple congenital anomalies due to 14q32.2 maternally expressed gene defect UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011975 MONDO:0700021 False paternal uniparental disomy of chromosome 14 chromosome 14 disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011975 MONDO:0700086 False paternal uniparental disomy of chromosome 14 uniparental disomy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011976 MONDO:0020087 False lipodystrophy-intellectual disability-deafness syndrome hereditary lipodystrophy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011977 MONDO:0015161 False 8q22.1 microdeletion syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011977 MONDO:0016907 False 8q22.1 microdeletion syndrome partial deletion of the long arm of chromosome 8 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011978 MONDO:0006025 False CoQ-responsive OXPHOS deficiency autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011979 MONDO:0000390 False adult-onset foveomacular vitelliform dystrophy vitelliform macular dystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011980 MONDO:0000162 False autoimmune thyroid disease, susceptibility to, 1 autoimmune thyroid disease, susceptibility to UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -21333,15 +25309,11 @@ MONDO:0011984 MONDO:0000722 False synpolydactyly type 2 non-syndromic synpolydac MONDO:0011984 MONDO:0011348 False synpolydactyly type 2 non-syndromic polydactyly UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011984 MONDO:0800066 False synpolydactyly type 2 polydactyly-syndactyly-triphalangism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011986 MONDO:0008185 False tropical pancreatitis hereditary chronic pancreatitis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING -MONDO:0011988 MONDO:0015978 False neutrophil immunodeficiency syndrome functional neutrophil defect UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011988 MONDO:0017855 False neutrophil immunodeficiency syndrome T-B- severe combined immunodeficiency UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011989 MONDO:0100120 False leishmaniasis vector-borne disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011992 MONDO:0015150 False hereditary spastic paraplegia 25 complex hereditary spastic paraplegia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011993 MONDO:0003847 False aspirin resistance hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011995 MONDO:0021147 False cataract - congenital heart disease - neural tube defect syndrome disorder of development or morphogenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011996 MONDO:0023603 False chronic myelogenous leukemia, BCR-ABL1 positive hereditary disorder of connective tissue UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011997 MONDO:0015134 False Hermansky-Pudlak syndrome 2 constitutional neutropenia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011997 MONDO:0015541 False Hermansky-Pudlak syndrome 2 hereditary hemophagocytic lymphohistiocytosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0011998 MONDO:0015358 False autosomal dominant slowed nerve conduction velocity hereditary motor and sensory neuropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012000 MONDO:0003847 False specific phobia hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0012001 MONDO:0003847 False mandibulofacial dysostosis with ptosis, autosomal dominant hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -21349,16 +25321,11 @@ MONDO:0012004 MONDO:0003847 False parathyroid gland carcinoma hereditary disease MONDO:0012005 MONDO:0003847 False growth failure, microcephaly, intellectual disability, cataracts, large joint contractures, osteoporosis, cortical dysplasia, and cerebellar atrophy hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012006 MONDO:0015469 False craniosynostosis with ocular abnormalities and hallucal defects craniosynostosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0012007 MONDO:0003847 False scimitar anomaly, multiple cardiac malformations, and craniofacial and central nervous system abnormalities hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012008 MONDO:0019287 False Lelis syndrome ectodermal dysplasia syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0012009 MONDO:0020573 False coronary heart disease, susceptibility to, 2 inherited disease susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012010 MONDO:0020573 False coronary heart disease, susceptibility to, 4 inherited disease susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012011 MONDO:0003847 False coronary artery disease, autosomal dominant, 1 hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012011 MONDO:0005010 False coronary artery disease, autosomal dominant, 1 coronary artery disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012012 MONDO:0019548 False Charcot-Marie-Tooth disease dominant intermediate C autosomal dominant intermediate Charcot-Marie-Tooth disease UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012014 MONDO:0017058 False Charcot-Marie-Tooth disease recessive intermediate A autosomal recessive intermediate Charcot-Marie-Tooth disease UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012016 MONDO:0016231 False capillary malformation-arteriovenous malformation syndrome capillary malformation UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012019 MONDO:0016761 False spondyloepiphyseal dysplasia, Kimberley type spondyloepiphyseal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0012020 MONDO:0016972 False chromosome 22q11.2 microduplication syndrome partial duplication of the long arm of chromosome 22 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012016 MONDO:0003847 False capillary malformation-arteriovenous malformation syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012024 MONDO:0800401 False retinitis pigmentosa 26 CERKL-related retinopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012025 MONDO:0003847 False branchiootic syndrome 3 hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012025 MONDO:0018878 False branchiootic syndrome 3 branchiootic syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -21367,106 +25334,66 @@ MONDO:0012028 MONDO:0020573 False autoimmune disease, susceptibility to, 3 inher MONDO:0012029 MONDO:0700054 False microcephaly 6, primary, autosomal recessive microcephaly 6 with or without short stature UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012031 MONDO:0021181 False platelet-type bleeding disorder 10 inherited blood coagulation disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012032 MONDO:0005149 False Braddock syndrome pulmonary hypertension UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012032 MONDO:0015161 False Braddock syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012033 MONDO:0003847 False bradyopsia hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0012033 MONDO:0005283 False bradyopsia retinal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0012035 MONDO:0015338 False craniosynostosis-intracranial calcifications syndrome syndromic craniosynostosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012036 MONDO:0020573 False systemic lupus erythematosus, susceptibility to, 4 inherited disease susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012038 MONDO:0003847 False speech-sound disorder hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012039 MONDO:0020573 False myocardial infarction, susceptibility to inherited disease susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012041 MONDO:0006025 False familial adenomatous polyposis 2 autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0012041 MONDO:0016362 False familial adenomatous polyposis 2 attenuated familial adenomatous polyposis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012042 MONDO:0100179 False Hirschsprung disease, susceptibility to, 8 Hirschsprung disease, susceptibility to UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012043 MONDO:0000764 False Reis-Bucklers corneal dystrophy epithelial-stromal TGFBI dystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0012043 MONDO:0020212 False Reis-Bucklers corneal dystrophy superficial corneal dystrophy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012044 MONDO:0000764 False corneal dystrophy, lattice type 3A epithelial-stromal TGFBI dystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012044 MONDO:0004686 False corneal dystrophy, lattice type 3A lattice corneal dystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012046 MONDO:0005349 False congenital corneal opacities, cornea guttata, and corectopia otosclerosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0012047 MONDO:0003847 False alopecia universalis congenita, 10Y gonadal dysgenesis, and laryngomalacia hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012048 MONDO:0002009 False endogenous depression major depressive disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0012048 MONDO:0003847 False endogenous depression hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0012050 MONDO:0020573 False major depressive disorder 1 inherited disease susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012051 MONDO:0005593 False periodontitis, aggressive, 2 chronic periodontitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012052 MONDO:0017740 False ALG1-congenital disorder of glycosylation disorder of protein N-glycosylation UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012054 MONDO:0005090 False schizophrenia 12 schizophrenia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS -MONDO:0012055 MONDO:0018230 False Larsen-like osseous dysplasia-short stature syndrome skeletal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012056 MONDO:0800101 False Leber congenital amaurosis 9 NMNAT1-related retinopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012057 MONDO:0015979 False legionnaire disease, susceptibility to hereditary predisposition to infections UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012058 MONDO:0020573 False myocardial infarction, susceptibility to, 2 inherited disease susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012059 MONDO:0019673 False polydactyly, postaxial, type A4 postaxial polydactyly type A UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012061 MONDO:0001823 False familial sick sinus syndrome sick sinus syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012061 MONDO:0003847 False familial sick sinus syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012063 MONDO:0019054 False ulnar/fibula ray defect-brachydactyly syndrome congenital limb malformation UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012064 MONDO:0003847 False choanal atresia-hearing loss-cardiac defects-craniofacial dysmorphism syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0012064 MONDO:0015161 False choanal atresia-hearing loss-cardiac defects-craniofacial dysmorphism syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012067 MONDO:0010940 False asthma-related traits, susceptibility to, 2 inherited susceptibility to asthma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0012068 MONDO:0003847 False brachial palsy, familial congenital hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012071 MONDO:0018883 False congenital generalized lipodystrophy type 1 Berardinelli-Seip congenital lipodystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012073 MONDO:0019046 False ribose-5-P isomerase deficiency leukodystrophy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING -MONDO:0012073 MONDO:0019231 False ribose-5-P isomerase deficiency inborn disorder of pentose phosphate metabolism UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012074 MONDO:0021106 False mandibuloacral dysplasia with type B lipodystrophy laminopathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012075 MONDO:0003847 False oligodontia-cancer predisposition syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012076 MONDO:0003847 False midface hypoplasia, obesity, developmental delay, and neonatal hypotonia hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012078 MONDO:0016364 False Joubert syndrome 3 Joubert syndrome with ocular defect UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012080 MONDO:0015352 False neuronopathy, distal hereditary motor, type 2B distal hereditary motor neuropathy type 2 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0012081 MONDO:0016965 False 15q11q13 microduplication syndrome partial duplication of the long arm of chromosome 15 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012084 MONDO:0017759 False aromatic L-amino acid decarboxylase deficiency disorder of catecholamine synthesis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012089 MONDO:0002051 False ichthyosis prematurity syndrome integumentary system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012089 MONDO:0002254 False ichthyosis prematurity syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012089 MONDO:0003847 False ichthyosis prematurity syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012089 MONDO:0043905 False ichthyosis prematurity syndrome pneumonitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012093 MONDO:0023122 False prostate cancer, hereditary, 3 familial prostate carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0012094 MONDO:0023122 False prostate cancer, hereditary, 4 familial prostate carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0012095 MONDO:0003847 False intellectual disability-brachydactyly-Pierre Robin syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012095 MONDO:0015159 False intellectual disability-brachydactyly-Pierre Robin syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012095 MONDO:0018234 False intellectual disability-brachydactyly-Pierre Robin syndrome dysostosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012095 MONDO:0019054 False intellectual disability-brachydactyly-Pierre Robin syndrome congenital limb malformation UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012096 MONDO:0018993 False Charcot-Marie-Tooth disease axonal type 2L Charcot-Marie-Tooth disease type 2 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0012097 MONDO:0010180 False spondylocostal dysostosis 2, autosomal recessive autosomal recessive spondylocostal dysostosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012098 MONDO:0019792 False spinocerebellar ataxia type 20 autosomal dominant cerebellar ataxia type I UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012099 MONDO:0002320 False AICA-ribosiduria congenital nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012099 MONDO:0015159 False AICA-ribosiduria multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012099 MONDO:0015327 False AICA-ribosiduria developmental anomaly of metabolic origin UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012099 MONDO:0019236 False AICA-ribosiduria inborn disorder of purine metabolism UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012099 MONDO:0020242 False AICA-ribosiduria hereditary macular dystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012100 MONDO:0020573 False major depressive disorder 2 inherited disease susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012101 MONDO:0020367 False glaucoma 1, open angle, J juvenile open angle glaucoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012102 MONDO:0020367 False glaucoma 1, open angle, K juvenile open angle glaucoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012103 MONDO:0019792 False spinocerebellar ataxia type 25 autosomal dominant cerebellar ataxia type I UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012104 MONDO:0020089 False acquired partial lipodystrophy acquired lipodystrophy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012105 MONDO:0005046 False granulomatosis with polyangiitis immune system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0012105 MONDO:0015492 False granulomatosis with polyangiitis anti-neutrophil cytoplasmic antibody-associated vasculitis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012104 MONDO:0027767 False acquired partial lipodystrophy partial lipodystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012105 MONDO:0002462 False granulomatosis with polyangiitis glomerulonephritis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0012107 MONDO:0003847 False neuropathy, hereditary sensory and autonomic, adult-onset, with anosmia hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012108 MONDO:0100510 False spondyloepimetaphyseal dysplasia, matrilin-3 type spondyloepimetaphyseal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012109 MONDO:0020573 False hypertension, essential, susceptibility to, 4 inherited disease susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012110 MONDO:0003847 False growth delay due to insulin-like growth factor type 1 deficiency hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012110 MONDO:0015892 False growth delay due to insulin-like growth factor type 1 deficiency growth hormone insensitivity syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012113 MONDO:0020573 False epilepsy, idiopathic generalized, susceptibility to, 3 inherited disease susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012114 MONDO:0020066 False Ehlers-Danlos syndrome, Beasley-Cohen type Ehlers-Danlos syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0012115 MONDO:0020573 False scoliosis, isolated, susceptibility to, 3 inherited disease susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012116 MONDO:0019792 False spinocerebellar ataxia type 8 autosomal dominant cerebellar ataxia type I UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012117 MONDO:0017740 False ALG9-congenital disorder of glycosylation disorder of protein N-glycosylation UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012118 MONDO:0015327 False COG7-congenital disorder of glycosylation developmental anomaly of metabolic origin UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012118 MONDO:0017750 False COG7-congenital disorder of glycosylation defect in conserved oligomeric Golgi complex UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012123 MONDO:0017749 False congenital disorder of glycosylation type 1E disorder of multiple glycosylation UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012124 MONDO:0003847 False sudden infant death-dysgenesis of the testes syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012124 MONDO:0005087 False sudden infant death-dysgenesis of the testes syndrome respiratory system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012124 MONDO:0020040 False sudden infant death-dysgenesis of the testes syndrome 46,XY disorder of sex development UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012125 MONDO:0017226 False hypomyelinating leukodystrophy 2 Pelizaeus-Merzbacher-like disease UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012126 MONDO:0018379 False familial avascular necrosis of femoral head primary avascular necrosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012126 MONDO:0018383 False familial avascular necrosis of femoral head osteonecrosis of genetic origin UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012127 MONDO:0100493 False autosomal recessive limb-girdle muscular dystrophy type 2J autosomal recessive titinopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012128 MONDO:0019443 False transposition of the great arteries, dextro-looped dextro-looped transposition of the great arteries UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012129 MONDO:0003847 False leukoencephalopathy, arthritis, colitis, and hypogammaglobulinema hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012130 MONDO:0016108 False myofibrillar myopathy 2 autosomal dominant distal myopathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012131 MONDO:0003847 False metaphyseal undermodeling, spondylar dysplasia, and overgrowth hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012131 MONDO:0005172 False metaphyseal undermodeling, spondylar dysplasia, and overgrowth skeletal system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012132 MONDO:0015356 False colorectal cancer, susceptibility to, 1 hereditary neoplastic syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012133 MONDO:0003847 False lateral semicircular canal malformation, familial, with external and middle ear abnormalities hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012134 MONDO:0020573 False myoclonic epilepsy, juvenile, susceptibility to, 3 inherited disease susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012136 MONDO:0015515 False carnitine palmitoyl transferase II deficiency, neonatal form carnitine palmitoyltransferase II deficiency UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012137 MONDO:0015285 False Carney complex - trismus - pseudocamptodactyly syndrome Carney complex UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012137 MONDO:0016432 False Carney complex - trismus - pseudocamptodactyly syndrome heart-hand syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012139 MONDO:0031166 False macular dystrophy, retinal, 3 macular dystrophy, retinal UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0012141 MONDO:0020573 False orofacial cleft 6, susceptibility to inherited disease susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012142 MONDO:0015420 False orofacial cleft 5 cleft lip and alveolus UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012142 MONDO:0016043 False orofacial cleft 5 isolated cleft lip UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -21474,7 +25401,6 @@ MONDO:0012142 MONDO:0016044 False orofacial cleft 5 cleft lip/palate UNSUPPORTED MONDO:0012143 MONDO:0000508 False hereditary cryohydrocytosis with reduced stomatin syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012143 MONDO:0003689 False hereditary cryohydrocytosis with reduced stomatin familial hemolytic anemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012143 MONDO:0017706 False hereditary cryohydrocytosis with reduced stomatin disorder of carbohydrate transmembrane transport and absorption UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012143 MONDO:0020102 False hereditary cryohydrocytosis with reduced stomatin hereditary stomatocytosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012144 MONDO:0019517 False Waardenburg syndrome type 2D Waardenburg syndrome type 2 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012147 MONDO:0020573 False coronary heart disease, susceptibility to, 5 inherited disease susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012149 MONDO:0020573 False attention deficit-hyperactivity disorder, susceptibility to, 1 inherited disease susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -21482,29 +25408,19 @@ MONDO:0012150 MONDO:0020573 False attention deficit-hyperactivity disorder, susc MONDO:0012151 MONDO:0020573 False attention deficit-hyperactivity disorder, susceptibility to, 3 inherited disease susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012152 MONDO:0020573 False attention deficit-hyperactivity disorder, susceptibility to, 4 inherited disease susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012153 MONDO:0020573 False Alzheimer disease 9 inherited disease susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012155 MONDO:0002232 False choanal atresia nasal cavity disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0012155 MONDO:0018751 False choanal atresia hereditary otorhinolaryngologic disease UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012156 MONDO:0011088 False myasthenic syndrome, congenital, 1B, fast-channel congenital myasthenic syndrome 1A UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS MONDO:0012157 MONDO:0020344 False congenital myasthenic syndrome 4C postsynaptic congenital myasthenic syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012159 MONDO:0015356 False lung cancer susceptibility 1 hereditary neoplastic syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012160 MONDO:0016763 False spondylometaphyseal dysplasia-cone-rod dystrophy syndrome spondylometaphyseal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS MONDO:0012161 MONDO:0015979 False susceptibility to respiratory infections associated with CD8alpha chain mutation hereditary predisposition to infections UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012163 MONDO:0031520 False immunodeficiency 104 familial severe combined immunodeficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0012163 MONDO:0044200 False immunodeficiency 104 T-B+ severe combined immunodeficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012164 MONDO:0002254 False Meacham syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012164 MONDO:0003847 False Meacham syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012164 MONDO:0020040 False Meacham syndrome 46,XY disorder of sex development UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012165 MONDO:0000110 False BNAR syndrome bifid nose UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012165 MONDO:0002254 False BNAR syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012165 MONDO:0015161 False BNAR syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012165 MONDO:0018751 False BNAR syndrome hereditary otorhinolaryngologic disease UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012166 MONDO:0100309 False autosomal dominant sensory ataxia 1 hereditary ataxia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0012166 MONDO:0100311 False autosomal dominant sensory ataxia 1 sensory ataxia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012168 MONDO:0020573 False dyslexia, susceptibility to, 8 inherited disease susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012171 MONDO:0003847 False marfanoid habitus with situs inversus hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012172 MONDO:0009637 False mitochondrial trifunctional protein deficiency inborn mitochondrial myopathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0012173 MONDO:0017713 False long chain 3-hydroxyacyl-CoA dehydrogenase deficiency disorder of fatty acid oxidation and ketogenesis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012173 MONDO:0020127 False long chain 3-hydroxyacyl-CoA dehydrogenase deficiency hereditary peripheral neuropathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012173 MONDO:0024573 False long chain 3-hydroxyacyl-CoA dehydrogenase deficiency familial hypertrophic cardiomyopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0012174 MONDO:0003847 False peripheral cone dystrophy hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012176 MONDO:0003847 False Emanuel syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -21513,44 +25429,25 @@ MONDO:0012178 MONDO:0003847 False intellectual disability with optic atrophy, fa MONDO:0012179 MONDO:0016158 False narcolepsy 3 narcolepsy-cataplexy syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012181 MONDO:0015150 False hereditary spastic paraplegia 27 complex hereditary spastic paraplegia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012182 MONDO:0003847 False skeletal dysplasia, rhizomelic, with retinitis pigmentosa hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012184 MONDO:0006025 False Pierson syndrome autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0012184 MONDO:0013621 False Pierson syndrome LAMB2-related infantile-onset nephrotic syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS MONDO:0012188 MONDO:0019262 False neuronal ceroid lipofuscinosis 9 juvenile neuronal ceroid lipofuscinosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012192 MONDO:0015327 False permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome developmental anomaly of metabolic origin UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012192 MONDO:0016391 False permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome neonatal diabetes mellitus UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012192 MONDO:0020022 False permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome central nervous system malformation UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012196 MONDO:0019587 False autosomal dominant auditory neuropathy 1 autosomal dominant nonsyndromic hearing loss UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS -MONDO:0012197 MONDO:0015610 False idiopathic aplastic anemia acquired aplastic anemia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012197 MONDO:0700007 False idiopathic aplastic anemia idiopathic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012198 MONDO:0000426 False PCWH syndrome autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0012198 MONDO:0002254 False PCWH syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0012202 MONDO:0021024 False malaria, mild, susceptibility to malaria, susceptibility to UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING -MONDO:0012203 MONDO:0003847 False familial hyperthyroidism due to mutations in TSH receptor hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0012203 MONDO:0004425 False familial hyperthyroidism due to mutations in TSH receptor hyperthyroidism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0012204 MONDO:0003689 False familial pseudohyperkalemia familial hemolytic anemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012204 MONDO:0020102 False familial pseudohyperkalemia hereditary stomatocytosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012205 MONDO:0021095 False autosomal dominant striatal neurodegeneration type 1 parkinsonian disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012206 MONDO:0016761 False Czech dysplasia, metatarsal type spondyloepiphyseal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012206 MONDO:0022800 False Czech dysplasia, metatarsal type type 2 collagenopathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012207 MONDO:0003847 False umbilicus, familial flat hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012208 MONDO:0015947 False congenital reticular ichthyosiform erythroderma inherited ichthyosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012209 MONDO:0015160 False branchiogenic deafness syndrome multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012211 MONDO:0017749 False MPDU1-congenital disorder of glycosylation disorder of multiple glycosylation UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012213 MONDO:0015150 False hereditary spastic paraplegia 26 complex hereditary spastic paraplegia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012215 MONDO:0002320 False myofibrillar myopathy 3 congenital nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0012215 MONDO:0015151 False myofibrillar myopathy 3 muscular dystrophy, limb-girdle, autosomal dominant UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS -MONDO:0012215 MONDO:0016108 False myofibrillar myopathy 3 autosomal dominant distal myopathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012216 MONDO:0002254 False foveal hypoplasia - optic nerve decussation defect - anterior segment dysgenesis syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012216 MONDO:0019216 False foveal hypoplasia - optic nerve decussation defect - anterior segment dysgenesis syndrome inborn disorder of amino acid transport UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012216 MONDO:0020249 False foveal hypoplasia - optic nerve decussation defect - anterior segment dysgenesis syndrome hereditary optic neuropathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012217 MONDO:0017195 False Bruck syndrome 2 Bruck syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012217 MONDO:0800064 False Bruck syndrome 2 osteogenesis imperfecta and a reduction of bone mineral density. UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012218 MONDO:0003847 False dandy-walker malformation with occipital cephalocele, autosomal dominant hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012219 MONDO:0019667 False spondyloepiphyseal dysplasia tarda, autosomal recessive, Leroy-Spranger type spondyloepiphyseal dysplasia tarda UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0012221 MONDO:0017779 False alpha-N-acetylgalactosaminidase deficiency type 1 alpha-N-acetylgalactosaminidase deficiency UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0012222 MONDO:0017779 False alpha-N-acetylgalactosaminidase deficiency type 2 alpha-N-acetylgalactosaminidase deficiency UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0012223 MONDO:0003847 False hypotrichosis, progressive patterned scalp, with wiry hair, onycholysis, and cleft lip/palate hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012231 MONDO:0018993 False Charcot-Marie-Tooth disease type 2A2 Charcot-Marie-Tooth disease type 2 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0012237 MONDO:0015738 False nemaline myopathy 6 childhood-onset nemaline myopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012238 MONDO:0008003 False progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2 autosomal dominant progressive external ophthalmoplegia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012239 MONDO:0015736 False congenital myopathy 4B, autosomal recessive intermediate nemaline myopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -21564,41 +25461,21 @@ MONDO:0012242 MONDO:0003847 False syncope, familial vasovagal hereditary disease MONDO:0012243 MONDO:0003847 False B-cell immunodeficiency, distal limb anomalies, and urogenital malformations hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012244 MONDO:0023122 False prostate cancer, hereditary, 5 familial prostate carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0012245 MONDO:0016022 False developmental and epileptic encephalopathy, 3 early myoclonic encephalopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0012246 MONDO:0019793 False spinocerebellar ataxia type 26 autosomal dominant cerebellar ataxia type III UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012247 MONDO:0019792 False spinocerebellar ataxia type 27 autosomal dominant cerebellar ataxia type I UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012248 MONDO:0016184 False autosomal recessive limb-girdle muscular dystrophy type 2K qualitative or quantitative defects of protein O-mannosyltransferase 1 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012248 MONDO:0700070 False autosomal recessive limb-girdle muscular dystrophy type 2K myopathy caused by variation in POMT1 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012249 MONDO:0000426 False Lynch syndrome 2 autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0012250 MONDO:0018995 False Charcot-Marie-Tooth disease type 4H Charcot-Marie-Tooth disease type 4 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0012251 MONDO:0002254 False MEDNIK syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0012251 MONDO:0017762 False MEDNIK syndrome disorder of copper metabolism UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012251 MONDO:0019270 False MEDNIK syndrome erythrokeratoderma UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012251 MONDO:0100118 False MEDNIK syndrome hereditary skin disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012253 MONDO:0016648 False multiple epiphyseal dysplasia, with severe proximal femoral dysplasia multiple epiphyseal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING -MONDO:0012254 MONDO:0016648 False multiple epiphyseal dysplasia, with miniepiphyses multiple epiphyseal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0012255 MONDO:0003847 False chromosome 18 pericentric inversion hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012255 MONDO:0043678 False chromosome 18 pericentric inversion chromosome inversion disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012255 MONDO:0700125 False chromosome 18 pericentric inversion chromosome 18 disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012256 MONDO:0015149 False hereditary spastic paraplegia 28 pure hereditary spastic paraplegia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012257 MONDO:0002254 False Cerebrorenodigital syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012259 MONDO:0003847 False colloid cysts of third ventricle hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012260 MONDO:0020376 False cataract 35 early-onset nuclear cataract UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012262 MONDO:0002320 False fibrosis of extraocular muscles, congenital, 3c congenital nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0012263 MONDO:0020573 False autoimmune disease, susceptibility to, 4 inherited disease susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012268 MONDO:0005109 False AIDS HIV infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0012269 MONDO:0016902 False chromosome 3q29 microdeletion syndrome partial deletion of the long arm of chromosome 3 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012271 MONDO:0019530 False mesoaxial synostotic syndactyly with phalangeal reduction non-syndromic syndactyly UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012268 MONDO:0003780 False AIDS T-cell immunodeficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012271 MONDO:0800066 False mesoaxial synostotic syndactyly with phalangeal reduction polydactyly-syndactyly-triphalangism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012272 MONDO:0003847 False intellectual disability, keratoconus, febrile seizures, and sinoatrial block hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012275 MONDO:0016677 False fetal valproate syndrome toxic or drug-related embryofetopathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012276 MONDO:0017704 False generalized epilepsy-paroxysmal dyskinesia syndrome familial partial epilepsy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012277 MONDO:0002320 False myofibrillar myopathy 4 congenital nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0012277 MONDO:0016108 False myofibrillar myopathy 4 autosomal dominant distal myopathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012277 MONDO:0016190 False myofibrillar myopathy 4 qualitative or quantitative defects of protein ZASP UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012278 MONDO:0019037 False supranuclear palsy, progressive, 2 progressive supranuclear palsy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012280 MONDO:0002254 False Goldberg-Shprintzen megacolon syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0012280 MONDO:0003847 False Goldberg-Shprintzen megacolon syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0012280 MONDO:0015159 False Goldberg-Shprintzen megacolon syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012280 MONDO:0021189 False Goldberg-Shprintzen megacolon syndrome intestinal motility disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012282 MONDO:0002254 False Al-Gazali syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012282 MONDO:0003847 False Al-Gazali syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -21610,24 +25487,16 @@ MONDO:0012286 MONDO:0010684 False myopathy, autophagic vacuolar, infantile-onset MONDO:0012287 MONDO:0007160 False Stickler syndrome, type I, nonsyndromic ocular Stickler syndrome type 1 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0012288 MONDO:0003847 False iridogoniodysgenesis and skeletal anomalies hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012289 MONDO:0002320 False myofibrillar myopathy 5 congenital nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0012289 MONDO:0016189 False myofibrillar myopathy 5 qualitative or quantitative defects of filamin C UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012290 MONDO:0002254 False CEDNIK syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0012290 MONDO:0017666 False CEDNIK syndrome diffuse palmoplantar keratoderma UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012291 MONDO:0001341 False immunoglobulin A deficiency 2 selective IgA deficiency disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012292 MONDO:0015979 False hepatitis C virus, susceptibility to hereditary predisposition to infections UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012295 MONDO:0000015 False complement component 5 deficiency classic complement early component deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012295 MONDO:0015700 False complement component 5 deficiency immunodeficiency due to a late component of complement deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012296 MONDO:0018075 False lipomyelomeningocele neural tube defect UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012297 MONDO:0015150 False SPOAN syndrome complex hereditary spastic paraplegia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012298 MONDO:0003847 False omphalocele, diaphragmatic hernia, and radial ray defects hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012300 MONDO:0023122 False prostate cancer, hereditary, 6 familial prostate carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING -MONDO:0012301 MONDO:0019238 False mitochondrial DNA depletion syndrome, myopathic form inborn disorder of pyrimidine metabolism UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0012307 MONDO:0015704 False familial scaphocephaly syndrome, McGillivray type familial scaphocephaly syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012310 MONDO:0007614 False fibrosis of extraocular muscles, congenital, with synergistic divergence congenital fibrosis of extraocular muscles UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0012311 MONDO:0003847 False spondylomegaepiphyseal dysplasia with upper limb mesomelia, punctate calcifications, and deafness hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012315 MONDO:0016909 False distal 10q deletion syndrome partial monosomy of the long arm of chromosome 10 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012316 MONDO:0005046 False Majeed syndrome immune system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012316 MONDO:0005570 False Majeed syndrome hematologic disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012316 MONDO:0023603 False Majeed syndrome hereditary disorder of connective tissue UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012317 MONDO:0017574 False visceral neuropathy, familial, 3, autosomal dominant chronic intestinal pseudoobstruction UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012318 MONDO:0015356 False leukemia, chronic lymphocytic, susceptibility to, 1 hereditary neoplastic syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -21638,65 +25507,43 @@ MONDO:0012322 MONDO:0017219 False holoprosencephaly 5 microform holoprosencephal MONDO:0012322 MONDO:0019756 False holoprosencephaly 5 lobar holoprosencephaly UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012322 MONDO:0019757 False holoprosencephaly 5 alobar holoprosencephaly UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012323 MONDO:0015550 False lethal acantholytic epidermolysis bullosa suprabasal epidermolysis bullosa simplex UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012324 MONDO:0015161 False Frias syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012324 MONDO:0016912 False Frias syndrome partial deletion of the long arm of chromosome 14 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012325 MONDO:0003847 False Nguyen syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012328 MONDO:0003847 False trichilemmal cyst hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012329 MONDO:0003847 False short stature and Facioauriculothoracic malformations hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012330 MONDO:0019707 False talo-patello-scaphoid osteolysis primary osteolysis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012334 MONDO:0015087 False hereditary spastic paraplegia 29 autosomal dominant complex spastic paraplegia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012335 MONDO:0019182 False obesity due to pro-opiomelanocortin deficiency inherited obesity UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0012336 MONDO:0011060 False cataract 22 multiple types early-onset non-syndromic cataract UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0012338 MONDO:0020573 False epilepsy, idiopathic generalized, susceptibility to, 4 inherited disease susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012339 MONDO:0020573 False celiac disease, susceptibility to, 4 inherited disease susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012340 MONDO:0020573 False celiac disease, susceptibility to, 2 inherited disease susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012341 MONDO:0020573 False celiac disease, susceptibility to, 3 inherited disease susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012342 MONDO:0003847 False 7q11.23 microduplication syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0012342 MONDO:0016958 False 7q11.23 microduplication syndrome partial duplication of the long arm of chromosome 7 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012344 MONDO:0015140 False Alzheimer disease 11 early-onset autosomal dominant Alzheimer disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012347 MONDO:0003847 False hamartoma, Precalcaneal congenital fibrolipomatous hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012348 MONDO:0018911 False maturity-onset diabetes of the young type 8 maturity-onset diabetes of the young UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS MONDO:0012349 MONDO:0010180 False spondylocostal dysostosis 3, autosomal recessive autosomal recessive spondylocostal dysostosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012350 MONDO:0005334 False complement factor H deficiency hereditary nephritis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012350 MONDO:0018013 False complement factor H deficiency non-immunoglobulin-mediated membranoproliferative glomerulonephritis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012351 MONDO:0008512 False zygodactyly type 1 syndactyly type 1 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS MONDO:0012352 MONDO:0003847 False vasculitis, lymphocytic, cutaneous small vessel hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012354 MONDO:0021181 False platelet-type bleeding disorder 8 inherited blood coagulation disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012358 MONDO:0015979 False leprosy, susceptibility to, 1 hereditary predisposition to infections UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012359 MONDO:0017855 False combined immunodeficiency due to partial RAG1 deficiency T-B- severe combined immunodeficiency UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012360 MONDO:0019995 False congenital nongoitrous hypothryoidism 3 peripheral resistance to thyroid hormones UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012361 MONDO:0020573 False systemic lupus erythematosus, susceptibility to, 5 inherited disease susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012367 MONDO:0700233 False retinitis pigmentosa 31 TOPORS-related retinopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012368 MONDO:0004736 False aminoacylase 1 deficiency inborn disorder of amino acid metabolism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012368 MONDO:0017686 False aminoacylase 1 deficiency inborn aminoacylase deficiency UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012369 MONDO:0020573 False systemic lupus erythematosus, susceptibility to, 6 inherited disease susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012373 MONDO:0003847 False ectodermal dysplasia, sensorineural hearing loss, and distinctive facial features hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012374 MONDO:0003847 False brachyphalangy, polydactyly, and tibial aplasia/hypoplasia hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012379 MONDO:0010940 False asthma-related traits, susceptibility to, 3 inherited susceptibility to asthma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING -MONDO:0012381 MONDO:0017182 False hyperinsulinism due to INSR deficiency familial hyperinsulinism UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012382 MONDO:0015624 False hyperinsulinemic hypoglycemia, familial, 4 diazoxide-sensitive diffuse hyperinsulinism UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012384 MONDO:0031240 False panic disorder 3 familial panic disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0012385 MONDO:0003847 False metaphyseal chondrodysplasia with cone-shaped epiphyses, normal hair, and normal hands hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012386 MONDO:0003847 False trichoscyphodysplasia hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012387 MONDO:0002254 False osteosclerosis-ichthyosis-premature ovarian failure syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012387 MONDO:0019852 False osteosclerosis-ichthyosis-premature ovarian failure syndrome inherited primary ovarian failure UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0012390 MONDO:0003847 False arthrogryposis multiplex with deafness, inguinal hernias, and early death hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012391 MONDO:0010830 False neuronal ceroid lipofuscinosis 8 northern epilepsy variant neuronal ceroid lipofuscinosis 8 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS MONDO:0012391 MONDO:0015905 False neuronal ceroid lipofuscinosis 8 northern epilepsy variant syndromic dyslipidemia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012391 MONDO:0020074 False neuronal ceroid lipofuscinosis 8 northern epilepsy variant progressive myoclonus epilepsy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS -MONDO:0012392 MONDO:0019215 False 2-methylbutyryl-CoA dehydrogenase deficiency classic organic aciduria UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012393 MONDO:0017352 False congenital brain dysgenesis due to glutamine synthetase deficiency disorder of glutamine metabolism UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012396 MONDO:0015624 False exercise-induced hyperinsulinism diazoxide-sensitive diffuse hyperinsulinism UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012396 MONDO:0017706 False exercise-induced hyperinsulinism disorder of carbohydrate transmembrane transport and absorption UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012397 MONDO:0003847 False brachydactyly, coloboma, and anterior segment dysgenesis hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012398 MONDO:0003847 False retinal cone dystrophy 3A hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0012398 MONDO:0018852 False retinal cone dystrophy 3A achromatopsia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0012399 MONDO:0015159 False complex cortical dysplasia with other brain malformations 7 multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012399 MONDO:0016162 False complex cortical dysplasia with other brain malformations 7 bilateral frontal polymicrogyria UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0012400 MONDO:0003847 False cortical dysplasia-focal epilepsy syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0012400 MONDO:0002254 False cortical dysplasia-focal epilepsy syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0012400 MONDO:0016377 False cortical dysplasia-focal epilepsy syndrome Pitt-Hopkins-like syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012401 MONDO:0003847 False congenital stromal corneal dystrophy hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0012401 MONDO:0020213 False congenital stromal corneal dystrophy stromal corneal dystrophy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0012402 MONDO:0020573 False opioid dependence, susceptibility to, 1 inherited disease susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012403 MONDO:0020573 False systemic lupus erythematosus, susceptibility to, 7 inherited disease susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012404 MONDO:0020573 False systemic lupus erythematosus, susceptibility to, 8 inherited disease susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -21705,12 +25552,9 @@ MONDO:0012406 MONDO:0019060 False hyperparathyroidism 3 bone neoplasm UNSUPPORTE MONDO:0012406 MONDO:0023603 False hyperparathyroidism 3 hereditary disorder of connective tissue UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012406 MONDO:0800096 False hyperparathyroidism 3 abnormal mineralization disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012407 MONDO:0015653 False pyridoxal phosphate-responsive seizures monogenic epilepsy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012407 MONDO:0019237 False pyridoxal phosphate-responsive seizures inborn disorder of pyridoxine metabolism UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012407 MONDO:0100033 False pyridoxal phosphate-responsive seizures metabolic epilepsy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012408 MONDO:0012409 False microphthalmia, isolated, with coloboma 3 isolated microphthalmia 2 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0012409 MONDO:0016764 False isolated microphthalmia 2 isolated anophthalmia-microphthalmia syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012410 MONDO:0016108 False Finnish upper limb-onset distal myopathy autosomal dominant distal myopathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012411 MONDO:0018993 False giant axonal neuropathy 2 Charcot-Marie-Tooth disease type 2 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0012412 MONDO:0000015 False complement component 7 deficiency classic complement early component deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012412 MONDO:0015700 False complement component 7 deficiency immunodeficiency due to a late component of complement deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012414 MONDO:0015674 False neuronal ceroid lipofuscinosis 10 late infantile neuronal ceroid lipofuscinosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -21719,49 +25563,36 @@ MONDO:0012414 MONDO:0019262 False neuronal ceroid lipofuscinosis 10 juvenile neu MONDO:0012415 MONDO:0008003 False progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4 autosomal dominant progressive external ophthalmoplegia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012416 MONDO:0003847 False Devriendt syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012417 MONDO:0000426 False heart-hand syndrome, Slovenian type autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012417 MONDO:0016432 False heart-hand syndrome, Slovenian type heart-hand syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012422 MONDO:0010255 False type 1 diabetes mellitus 19 diabetes mellitus, insulin-dependent, X-linked, susceptibility to UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0012423 MONDO:0003847 False MORM syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012426 MONDO:0015703 False immunodeficiency 25 T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012428 MONDO:0003847 False kyphoscoliosis 1 hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012431 MONDO:0005711 False diaphragmatic hernia 3 congenital diaphragmatic hernia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0012432 MONDO:0009480 False Joubert syndrome 5 Joubert syndrome with oculorenal defect UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0012432 MONDO:0100451 False Joubert syndrome 5 CEP290-related ciliopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012433 MONDO:0100451 False Senior-Loken syndrome 6 CEP290-related ciliopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012436 MONDO:0016391 False neonatal diabetes mellitus with congenital hypothyroidism neonatal diabetes mellitus UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0012437 MONDO:0011060 False cataract 21 multiple types early-onset non-syndromic cataract UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0012444 MONDO:0017998 False neurodegeneration with brain iron accumulation 2B PLA2G6-associated neurodegeneration UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012446 MONDO:0019268 False seborrhea-like dermatitis with psoriasiform elements epidermal disease UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012446 MONDO:0100118 False seborrhea-like dermatitis with psoriasiform elements hereditary skin disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012447 MONDO:0000722 False synpolydactyly type 3 non-syndromic synpolydactyly UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012449 MONDO:0019792 False spinocerebellar ataxia type 23 autosomal dominant cerebellar ataxia type I UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012450 MONDO:0016387 False spinocerebellar ataxia type 28 mitochondrial oxidative phosphorylation disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012450 MONDO:0019792 False spinocerebellar ataxia type 28 autosomal dominant cerebellar ataxia type I UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012451 MONDO:0003847 False esophagitis, eosinophilic, 1 hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012451 MONDO:0005361 False esophagitis, eosinophilic, 1 eosinophilic esophagitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012454 MONDO:0003847 False alcohol sensitivity, acute hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012454 MONDO:0020683 False alcohol sensitivity, acute acute disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012454 MONDO:0021698 False alcohol sensitivity, acute alcohol-related disorders UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012455 MONDO:0003847 False Kleefstra syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0012455 MONDO:0015159 False Kleefstra syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012458 MONDO:0020573 False hypertension, essential, susceptibility to, 5 inherited disease susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012459 MONDO:0020573 False hypertension, essential, susceptibility to, 6 inherited disease susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012462 MONDO:0005560 False autosomal recessive frontotemporal pachygyria brain disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012462 MONDO:0021147 False autosomal recessive frontotemporal pachygyria disorder of development or morphogenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012465 MONDO:0009332 False hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency congenital hematological disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012465 MONDO:0017748 False hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency inborn disorder of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012465 MONDO:0021181 False hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency inherited blood coagulation disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012466 MONDO:0020573 False Parkinson disease 13, autosomal dominant, susceptibility to inherited disease susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012468 MONDO:0003847 False rhizomelic dysplasia, scoliosis, and retinitis pigmentosa hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012470 MONDO:0023122 False prostate cancer, hereditary, 7 familial prostate carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0012473 MONDO:0003847 False right pulmonary artery, anomalous origin of, familial hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012474 MONDO:0020300 False autosomal dominant nocturnal frontal lobe epilepsy 4 autosomal dominant nocturnal frontal lobe epilepsy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0012475 MONDO:0000455 False cone dystrophy with supernormal rod response cone dystrophy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0012476 MONDO:0700055 False hereditary spastic paraplegia 30 KIF1A related neurological disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012477 MONDO:0800098 False retinitis pigmentosa 33 SNRNP200-related dominant retinopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012480 MONDO:0020525 False diabetes mellitus, transient neonatal, 2 transient neonatal diabetes mellitus UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012481 MONDO:0005328 False mevalonic aciduria eye disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0012481 MONDO:0017708 False mevalonic aciduria mevalonate kinase deficiency UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012482 MONDO:0015979 False West Nile virus, susceptibility to hereditary predisposition to infections UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012484 MONDO:0003227 False prosopagnosia, hereditary prosopagnosia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012484 MONDO:0003847 False prosopagnosia, hereditary hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -21771,32 +25602,19 @@ MONDO:0012489 MONDO:0011060 False cataract 23 early-onset non-syndromic cataract MONDO:0012490 MONDO:0002320 False cone-rod synaptic disorder, congenital nonprogressive congenital nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012490 MONDO:0016293 False cone-rod synaptic disorder, congenital nonprogressive congenital stationary night blindness UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0012494 MONDO:0003847 False testicular microlithiasis hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012495 MONDO:0100510 False spondyloepimetaphyseal dysplasia, Genevieve type spondyloepimetaphyseal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0012496 MONDO:0003847 False Koolen-de Vries syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012496 MONDO:0015159 False Koolen-de Vries syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012497 MONDO:0000426 False congenital stationary night blindness autosomal dominant 3 autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0012497 MONDO:0002320 False congenital stationary night blindness autosomal dominant 3 congenital nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0012498 MONDO:0002320 False congenital stationary night blindness autosomal dominant 1 congenital nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0012499 MONDO:0015979 False Buruli ulcer, susceptibility to hereditary predisposition to infections UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012502 MONDO:0018891 False normophosphatemic familial tumoral calcinosis familial tumoral calcinosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012502 MONDO:0019052 False normophosphatemic familial tumoral calcinosis inborn errors of metabolism UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0012504 MONDO:0000429 False camptodactyly-tall stature-scoliosis-hearing loss syndrome autosomal genetic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0012504 MONDO:0019685 False camptodactyly-tall stature-scoliosis-hearing loss syndrome FGFR3-related chondrodysplasia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012507 MONDO:0000455 False retinal cone dystrophy 4 cone dystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0012507 MONDO:0015993 False retinal cone dystrophy 4 cone-rod dystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS MONDO:0012507 MONDO:0700244 False retinal cone dystrophy 4 CACNA2D4-related retinopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012508 MONDO:0001902 False agammaglobulinemia-microcephaly-craniosynostosis-severe dermatitis syndrome congenital agammaglobulinemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012508 MONDO:0015159 False agammaglobulinemia-microcephaly-craniosynostosis-severe dermatitis syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012508 MONDO:0016463 False agammaglobulinemia-microcephaly-craniosynostosis-severe dermatitis syndrome syndromic agammaglobulinemia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012511 MONDO:0002263 False preterm premature rupture of the membranes female reproductive system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0012511 MONDO:0003847 False preterm premature rupture of the membranes hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0012513 MONDO:0018911 False maturity-onset diabetes of the young type 7 maturity-onset diabetes of the young UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS MONDO:0012515 MONDO:0020367 False glaucoma 1, open angle, M juvenile open angle glaucoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012516 MONDO:0000426 False mandibulofacial dysostosis-microcephaly syndrome autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0012516 MONDO:0015159 False mandibulofacial dysostosis-microcephaly syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012516 MONDO:0018237 False mandibulofacial dysostosis-microcephaly syndrome acrofacial dysostosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0012517 MONDO:0100517 False Gaucher disease due to saposin C deficiency PSAP-related sphingolipidosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012519 MONDO:0022752 False Rubinstein-Taybi syndrome due to 16p13.3 microdeletion chromosome 16p13.3 deletion syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012520 MONDO:0001933 False insulin-resistance syndrome type A endocrine pancreas disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012520 MONDO:0003847 False insulin-resistance syndrome type A hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012521 MONDO:0004609 False herpes simplex encephalitis herpes simplex infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012522 MONDO:0020525 False diabetes mellitus, transient neonatal, 3 transient neonatal diabetes mellitus UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -21806,8 +25624,6 @@ MONDO:0012525 MONDO:0700235 False Leber congenital amaurosis 12 RD3-related reti MONDO:0012527 MONDO:0011060 False cataract 11 multiple types early-onset non-syndromic cataract UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0012528 MONDO:0018800 False hypogonadotropic hypogonadism 4 with or without anosmia Kallmann syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0012530 MONDO:0006025 False palmoplantar keratoderma-XX sex reversal-predisposition to squamous cell carcinoma syndrome autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012530 MONDO:0017576 False palmoplantar keratoderma-XX sex reversal-predisposition to squamous cell carcinoma syndrome 46,XX disorder of sex development UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012530 MONDO:0017666 False palmoplantar keratoderma-XX sex reversal-predisposition to squamous cell carcinoma syndrome diffuse palmoplantar keratoderma UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012531 MONDO:0016354 False xeroderma pigmentosum group B xeroderma pigmentosum-Cockayne syndrome complex UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012535 MONDO:0003847 False holoprosencephaly, recurrent infections, and monocytosis hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012536 MONDO:0800064 False osteogenesis imperfecta type 7 osteogenesis imperfecta and a reduction of bone mineral density. UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -21816,28 +25632,19 @@ MONDO:0012538 MONDO:0015737 False nemaline myopathy 7 typical nemaline myopathy MONDO:0012541 MONDO:0003847 False deafness with labyrinthine aplasia, microtia, and microdontia hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012542 MONDO:0100171 False psoriasis 8, susceptibility to psoriasis, susceptibility to UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012543 MONDO:0020250 False optic atrophy 5 autosomal dominant optic atrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012544 MONDO:0000429 False brachydactyly-syndactyly syndrome autosomal genetic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0012544 MONDO:0005172 False brachydactyly-syndactyly syndrome skeletal system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012545 MONDO:0015611 False neutral lipid storage myopathy neutral lipid storage disease UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012546 MONDO:0019006 False nephrotic syndrome, type 3 familial idiopathic steroid-resistant nephrotic syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012548 MONDO:0015356 False Kostmann syndrome hereditary neoplastic syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012548 MONDO:0028226 False Kostmann syndrome autosomal recessive severe congenital neutropenia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012548 MONDO:0060782 False Kostmann syndrome premalignant hematological system disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012550 MONDO:0003847 False iris pattern hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012551 MONDO:0019080 False alopecia areata 2 alopecia totalis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012552 MONDO:0000426 False multiple endocrine neoplasia type 4 autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0012555 MONDO:0019713 False Cornelia de Lange syndrome 3 non-syndromic limb reduction defect UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012556 MONDO:0002254 False DK1-congenital disorder of glycosylation syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0012556 MONDO:0016333 False DK1-congenital disorder of glycosylation familial dilated cardiomyopathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING -MONDO:0012556 MONDO:0017749 False DK1-congenital disorder of glycosylation disorder of multiple glycosylation UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012556 MONDO:0100118 False DK1-congenital disorder of glycosylation hereditary skin disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012557 MONDO:0006025 False cardiomyopathy-hypotonia-lactic acidosis syndrome autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012557 MONDO:0006040 False cardiomyopathy-hypotonia-lactic acidosis syndrome lactic acidosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012557 MONDO:0016801 False cardiomyopathy-hypotonia-lactic acidosis syndrome mitochondrial substrate carrier disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012557 MONDO:0024573 False cardiomyopathy-hypotonia-lactic acidosis syndrome familial hypertrophic cardiomyopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0012558 MONDO:0003847 False epiphyseal dysplasia, Baumann type hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012559 MONDO:0003847 False primary immunodeficiency syndrome due to p14 deficiency hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012559 MONDO:0015134 False primary immunodeficiency syndrome due to p14 deficiency constitutional neutropenia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012563 MONDO:0017219 False holoprosencephaly 9 microform holoprosencephaly UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0012563 MONDO:0019756 False holoprosencephaly 9 lobar holoprosencephaly UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012563 MONDO:0019757 False holoprosencephaly 9 alobar holoprosencephaly UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -21845,9 +25652,7 @@ MONDO:0012564 MONDO:0003847 False Polyosteolysis-hyperostosis syndrome hereditar MONDO:0012568 MONDO:0020573 False osteoarthritis susceptibility 4 inherited disease susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012570 MONDO:0100118 False body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency hereditary skin disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012572 MONDO:0003847 False Sakoda complex hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012574 MONDO:0003847 False Potocki-Lupski syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0012574 MONDO:0016950 False Potocki-Lupski syndrome partial duplication of the short arm of chromosome 17 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012575 MONDO:0007029 False branchiootorenal syndrome 2 branchio-oto-renal syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0012574 MONDO:0002254 False Potocki-Lupski syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0012576 MONDO:0019037 False supranuclear palsy, progressive, 3 progressive supranuclear palsy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012577 MONDO:0010940 False asthma-related traits, susceptibility to, 4 inherited susceptibility to asthma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0012579 MONDO:0001437 False autoimmune pulmonary alveolar proteinosis pulmonary alveolar proteinosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -21861,32 +25666,21 @@ MONDO:0012586 MONDO:0003847 False coronary artery disease, autosomal dominant 2 MONDO:0012586 MONDO:0005010 False coronary artery disease, autosomal dominant 2 coronary artery disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012587 MONDO:0020573 False hypertension, essential, susceptibility to, 7 inherited disease susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012588 MONDO:0015674 False neuronal ceroid lipofuscinosis 7 late infantile neuronal ceroid lipofuscinosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012589 MONDO:0003847 False Pitt-Hopkins syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0012589 MONDO:0015159 False Pitt-Hopkins syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012590 MONDO:0003847 False XFE progeroid syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0012591 MONDO:0800064 False osteogenesis imperfecta type 5 osteogenesis imperfecta and a reduction of bone mineral density. UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012592 MONDO:0800064 False osteogenesis imperfecta type 11 osteogenesis imperfecta and a reduction of bone mineral density. UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012593 MONDO:0002254 False brain-lung-thyroid syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012593 MONDO:0003847 False brain-lung-thyroid syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012593 MONDO:0005151 False brain-lung-thyroid syndrome endocrine system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012593 MONDO:0005395 False brain-lung-thyroid syndrome movement disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012594 MONDO:0003832 False complement factor I deficiency complement deficiency UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0012595 MONDO:0015979 False leprosy, susceptibility to, 4 hereditary predisposition to infections UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012596 MONDO:0018162 False PSAT deficiency neurometabolic disorder due to serine deficiency UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012597 MONDO:0023122 False prostate cancer, hereditary, 9 familial prostate carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0012599 MONDO:0020573 False hypertension, essential, susceptibility to, 8 inherited disease susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012604 MONDO:0016764 False isolated microphthalmia 3 isolated anophthalmia-microphthalmia syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012606 MONDO:0000070 False mycobacterium tuberculosis, susceptibility to, 2 mycobacterium tuberculosis, susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012607 MONDO:0010940 False asthma-related traits, susceptibility to, 5 inherited susceptibility to asthma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING -MONDO:0012608 MONDO:0001516 False neuronopathy, distal hereditary motor, autosomal recessive 4 spinal muscular atrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0012608 MONDO:0015363 False neuronopathy, distal hereditary motor, autosomal recessive 4 neuronopathy, distal hereditary motor, autosomal recessive UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS MONDO:0012609 MONDO:0015140 False Alzheimer disease 12 early-onset autosomal dominant Alzheimer disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012611 MONDO:0015653 False polyhydramnios, megalencephaly, and symptomatic epilepsy monogenic epilepsy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012620 MONDO:0023122 False prostate cancer, hereditary, 10 familial prostate carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0012621 MONDO:0002254 False deafness-infertility syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012621 MONDO:0016913 False deafness-infertility syndrome partial deletion of the long arm of chromosome 15 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012622 MONDO:0016387 False leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome mitochondrial oxidative phosphorylation disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012622 MONDO:0019046 False leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome leukodystrophy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0012624 MONDO:0017713 False acyl-CoA dehydrogenase 9 deficiency disorder of fatty acid oxidation and ketogenesis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012626 MONDO:0100451 False Meckel syndrome, type 4 CEP290-related ciliopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012626 MONDO:0800066 False Meckel syndrome, type 4 polydactyly-syndactyly-triphalangism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -21897,46 +25691,27 @@ MONDO:0012630 MONDO:0015140 False Alzheimer disease 13 early-onset autosomal dom MONDO:0012631 MONDO:0015140 False Alzheimer disease 14 early-onset autosomal dominant Alzheimer disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012634 MONDO:0003847 False craniofacial dysplasia - osteopenia syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012634 MONDO:0021147 False craniofacial dysplasia - osteopenia syndrome disorder of development or morphogenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012635 MONDO:0017750 False COG8-congenital disorder of glycosylation defect in conserved oligomeric Golgi complex UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012637 MONDO:0002254 False COG1-congenital disorder of glycosylation syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0012637 MONDO:0005267 False COG1-congenital disorder of glycosylation heart disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0012637 MONDO:0015327 False COG1-congenital disorder of glycosylation developmental anomaly of metabolic origin UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012637 MONDO:0017750 False COG1-congenital disorder of glycosylation defect in conserved oligomeric Golgi complex UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012638 MONDO:0004884 False microphthalmia-brain atrophy syndrome eye degenerative disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0012638 MONDO:0024237 False microphthalmia-brain atrophy syndrome inherited neurodegenerative disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012639 MONDO:0015150 False hereditary spastic paraplegia 18 complex hereditary spastic paraplegia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012640 MONDO:0018995 False Charcot-Marie-Tooth disease type 4J Charcot-Marie-Tooth disease type 4 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0012642 MONDO:0003847 False major affective disorder 4 hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012642 MONDO:0004985 False major affective disorder 4 bipolar disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012643 MONDO:0015150 False hereditary spastic paraplegia 32 complex hereditary spastic paraplegia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012645 MONDO:0020367 False glaucoma 1, open angle, N juvenile open angle glaucoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012648 MONDO:0019215 False isobutyryl-CoA dehydrogenase deficiency classic organic aciduria UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012650 MONDO:0017855 False Cernunnos-XLF deficiency T-B- severe combined immunodeficiency UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012650 MONDO:0031520 False Cernunnos-XLF deficiency familial severe combined immunodeficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING -MONDO:0012651 MONDO:0015150 False spastic ataxia 2 complex hereditary spastic paraplegia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012655 MONDO:0020573 False myoclonic epilepsy, juvenile, susceptibility to, 4 inherited disease susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012656 MONDO:0015161 False lethal congenital contracture syndrome 3 multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012657 MONDO:0003847 False Mungan syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012658 MONDO:0019676 False brachydactyly type B2 brachydactyly type B UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012658 MONDO:0100521 False brachydactyly type B2 NOG-related symphalangism spectrum disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012660 MONDO:0015979 False susceptibility to visceral leishmaniasis, 2 hereditary predisposition to infections UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012661 MONDO:0015979 False susceptibility to visceral leishmaniasis, 3 hereditary predisposition to infections UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012662 MONDO:0016484 False Usher syndrome type 2D Usher syndrome type 2 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0012664 MONDO:0016387 False spastic ataxia 3 mitochondrial oxidative phosphorylation disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012664 MONDO:0017847 False spastic ataxia 3 autosomal recessive spastic ataxia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012665 MONDO:0011060 False cataract 33 early-onset non-syndromic cataract UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0012666 MONDO:0010940 False asthma-related traits, susceptibility to, 6 inherited susceptibility to asthma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0012668 MONDO:0003847 False Tented eyebrows hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012669 MONDO:0019289 False Legius syndrome hyperpigmentation of the skin UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012669 MONDO:0019755 False Legius syndrome developmental defect during embryogenesis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012669 MONDO:0020297 False Legius syndrome Noonan syndrome and Noonan-related syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012669 MONDO:0100118 False Legius syndrome hereditary skin disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012672 MONDO:0006026 False cholelithiasis urinary bladder disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0012673 MONDO:0015356 False colorectal cancer, susceptibility to, 2 hereditary neoplastic syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012675 MONDO:0003847 False corticosteroid-binding globulin deficiency hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0012675 MONDO:0005495 False corticosteroid-binding globulin deficiency adrenal gland disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0012682 MONDO:0015979 False immunodeficiency 35 hereditary predisposition to infections UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012683 MONDO:0016387 False pontocerebellar hypoplasia type 6 mitochondrial oxidative phosphorylation disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012685 MONDO:0003847 False major affective disorder 5 hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012685 MONDO:0004985 False major affective disorder 5 bipolar disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012686 MONDO:0003847 False major affective disorder 6 hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -21945,10 +25720,8 @@ MONDO:0012687 MONDO:0003847 False familial cavitary optic disk anomaly hereditar MONDO:0012687 MONDO:0005328 False familial cavitary optic disk anomaly eye disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012688 MONDO:0011060 False cataract 17 multiple types early-onset non-syndromic cataract UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0012692 MONDO:0003847 False renal tubular acidosis, distal, with nephrocalcinosis, short stature, intellectual disability, and distinctive facies hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012693 MONDO:0002412 False glycogen storage disease due to muscle and heart glycogen synthase deficiency disorder of glycogen metabolism UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0012695 MONDO:0800066 False Meckel syndrome, type 5 polydactyly-syndactyly-triphalangism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012698 MONDO:0019517 False Waardenburg syndrome type 2E Waardenburg syndrome type 2 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012699 MONDO:0016333 False autosomal recessive limb-girdle muscular dystrophy type 2M familial dilated cardiomyopathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0012699 MONDO:0700067 False autosomal recessive limb-girdle muscular dystrophy type 2M myopathy caused by variation in FKTN UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012700 MONDO:0003689 False renal tubular acidosis, distal, 4, with hemolytic anemia familial hemolytic anemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012702 MONDO:0020573 False celiac disease, susceptibility to, 6 inherited disease susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -21957,11 +25730,7 @@ MONDO:0012708 MONDO:0018155 False primary lateral sclerosis, adult, 1 lateral sc MONDO:0012710 MONDO:0100179 False Hirschsprung disease, susceptibility to, 9 Hirschsprung disease, susceptibility to UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012711 MONDO:0003847 False peripapillary atrophy, beta type hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012712 MONDO:0003847 False dystonia with cerebellar atrophy hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012713 MONDO:0016763 False spondylometaphyseal dysplasia, East African type spondylometaphyseal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS -MONDO:0012714 MONDO:0016333 False early-onset myopathy with fatal cardiomyopathy familial dilated cardiomyopathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING -MONDO:0012714 MONDO:0019056 False early-onset myopathy with fatal cardiomyopathy neuromuscular disease UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0012714 MONDO:0100493 False early-onset myopathy with fatal cardiomyopathy autosomal recessive titinopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012716 MONDO:0016761 False spondyloepiphyseal dysplasia, Cantu type spondyloepiphyseal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0012717 MONDO:0018101 False renal hypomagnesemia 4 familial primary hypomagnesemia with normocalciuria and normocalcemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012719 MONDO:0100517 False combined PSAP deficiency PSAP-related sphingolipidosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012720 MONDO:0015905 False Krabbe disease due to saposin A deficiency syndromic dyslipidemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -21971,17 +25740,14 @@ MONDO:0012721 MONDO:0015286 False progressive myoclonic epilepsy type 3 congenit MONDO:0012722 MONDO:0003847 False Dauwerse-Peters syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012723 MONDO:0022410 False Leber congenital amaurosis 10 retinal ciliopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012723 MONDO:0100451 False Leber congenital amaurosis 10 CEP290-related ciliopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012725 MONDO:0015905 False lipoprotein glomerulopathy syndromic dyslipidemia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012726 MONDO:0002254 False autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012726 MONDO:0004995 False autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome cardiovascular disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012726 MONDO:0800461 False autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome COL4A1-related disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012727 MONDO:0002052 False mucocutaneous lymph node syndrome lymphadenitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0012727 MONDO:0003847 False mucocutaneous lymph node syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0012731 MONDO:0003689 False elliptocytosis 1 familial hemolytic anemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012731 MONDO:0017319 False elliptocytosis 1 hereditary elliptocytosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012732 MONDO:0003847 False tremor, hereditary essential, and idiopathic normal pressure hydrocephalus hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012732 MONDO:0700007 False tremor, hereditary essential, and idiopathic normal pressure hydrocephalus idiopathic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012733 MONDO:0003004 False autosomal recessive bestrophinopathy macular degeneration UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0012733 MONDO:0700239 False autosomal recessive bestrophinopathy BEST1-related recessive retinopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012734 MONDO:0009299 False SERKAL syndrome 46 XX gonadal dysgenesis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0012735 MONDO:0100485 False Temple-Baraitser syndrome KCNH1 associated disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -21993,19 +25759,10 @@ MONDO:0012747 MONDO:0003689 False glycogen storage disease due to aldolase A def MONDO:0012747 MONDO:0017688 False glycogen storage disease due to aldolase A deficiency disorder of glycolysis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012747 MONDO:0020585 False glycogen storage disease due to aldolase A deficiency anemia due to erythrocyte enzyme disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012749 MONDO:0003847 False mesomelic dysplasia, camera type hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012750 MONDO:0015168 False lethal arthrogryposis-anterior horn cell disease syndrome arthrogryposis multiplex congenita UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING -MONDO:0012756 MONDO:0016894 False proximal 16p11.2 microdeletion syndrome partial deletion of the short arm of chromosome 16 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012757 MONDO:0017015 False lung fibrosis-immunodeficiency-46,XX gonadal dysgenesis syndrome primary interstitial lung disease specific to childhood UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012757 MONDO:0044200 False lung fibrosis-immunodeficiency-46,XX gonadal dysgenesis syndrome T-B+ severe combined immunodeficiency UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012758 MONDO:0023122 False prostate cancer, hereditary, 13 familial prostate carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0012759 MONDO:0000111 False camptodactyly syndrome, Guadalajara type 3 camptodactyly syndrome, Guadalajara UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012759 MONDO:0015159 False camptodactyly syndrome, Guadalajara type 3 multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012759 MONDO:0018234 False camptodactyly syndrome, Guadalajara type 3 dysostosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012760 MONDO:0020573 False epilepsy, idiopathic generalized, susceptibility to, 5 inherited disease susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012761 MONDO:0016954 False chromosome 3q29 microduplication syndrome partial duplication of the long arm of chromosome 3 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012763 MONDO:0020573 False epilepsy, childhood absence, susceptibility to, 6 inherited disease susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012764 MONDO:0015244 False RIDDLE syndrome autosomal recessive cerebellar ataxia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS -MONDO:0012766 MONDO:0015149 False hereditary spastic paraplegia 37 pure hereditary spastic paraplegia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012768 MONDO:0023122 False prostate cancer, hereditary, 11 familial prostate carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0012769 MONDO:0023122 False prostate cancer, hereditary, 14 familial prostate carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0012770 MONDO:0023122 False prostate cancer, hereditary, 15 familial prostate carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING @@ -22013,8 +25770,6 @@ MONDO:0012771 MONDO:0010940 False asthma-related traits, susceptibility to, 7 in MONDO:0012772 MONDO:0003847 False Stevenson-Carey syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012773 MONDO:0003847 False Hunter-Macdonald syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012774 MONDO:0002320 False chromosome 15q13.3 microdeletion syndrome congenital nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0012774 MONDO:0015159 False chromosome 15q13.3 microdeletion syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012774 MONDO:0016913 False chromosome 15q13.3 microdeletion syndrome partial deletion of the long arm of chromosome 15 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012776 MONDO:0020573 False celiac disease, susceptibility to, 7 inherited disease susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012777 MONDO:0020573 False celiac disease, susceptibility to, 8 inherited disease susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012778 MONDO:0020573 False celiac disease, susceptibility to, 9 inherited disease susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -22022,54 +25777,32 @@ MONDO:0012779 MONDO:0020573 False celiac disease, susceptibility to, 10 inherite MONDO:0012780 MONDO:0020573 False celiac disease, susceptibility to, 11 inherited disease susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012781 MONDO:0020573 False celiac disease, susceptibility to, 12 inherited disease susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012782 MONDO:0020573 False celiac disease, susceptibility to, 13 inherited disease susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012783 MONDO:0015327 False RFT1-congenital disorder of glycosylation developmental anomaly of metabolic origin UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012783 MONDO:0017740 False RFT1-congenital disorder of glycosylation disorder of protein N-glycosylation UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012786 MONDO:0000426 False juvenile cataract-microcornea-renal glucosuria syndrome autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0012786 MONDO:0017706 False juvenile cataract-microcornea-renal glucosuria syndrome disorder of carbohydrate transmembrane transport and absorption UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012787 MONDO:0015150 False hereditary spastic paraplegia 39 complex hereditary spastic paraplegia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012787 MONDO:0015905 False hereditary spastic paraplegia 39 syndromic dyslipidemia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012787 MONDO:0018117 False hereditary spastic paraplegia 39 disorder of phospholipids, sphingolipids and fatty acids biosynthesis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012788 MONDO:0020573 False coronary heart disease, susceptibility to, 9 inherited disease susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012789 MONDO:0000478 False dystonia 16 multifocal dystonia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0012789 MONDO:0020065 False dystonia 16 combined dystonia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012789 MONDO:0021095 False dystonia 16 parkinsonian disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0012790 MONDO:0017161 False amyotrophic lateral sclerosis type 10 frontotemporal dementia with motor neuron disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0012791 MONDO:0002254 False mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0012791 MONDO:0016796 False mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria mitochondrial DNA depletion syndrome, encephalomyopathic form UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012792 MONDO:0016796 False mitochondrial DNA depletion syndrome 8a mitochondrial DNA depletion syndrome, encephalomyopathic form UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012793 MONDO:0009071 False hypouricemia, renal, 2 hereditary renal hypouricemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012794 MONDO:0002051 False ANE syndrome integumentary system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0012794 MONDO:0002254 False ANE syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0012794 MONDO:0015770 False ANE syndrome congenital hypogonadotropic hypogonadism UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012794 MONDO:0018762 False ANE syndrome non-acquired combined pituitary hormone deficiency UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012795 MONDO:0003847 False hypophosphatemic rickets and hyperparathyroidism hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012798 MONDO:0003847 False deafness, unilateral, with delayed endolymphatic hydrops hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012800 MONDO:0011114 False trichoepithelioma, multiple familial, 2 familial multiple trichoepithelioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012802 MONDO:0016073 False oculoauricular syndrome syndromic microphthalmia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS -MONDO:0012803 MONDO:0017706 False diarrhea-vomiting due to trehalase deficiency disorder of carbohydrate transmembrane transport and absorption UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012805 MONDO:0015427 False childhood onset GLUT1 deficiency syndrome 2 paroxysmal dyskinesia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012809 MONDO:0003847 False histiocytoma, Angiomatoid fibrous hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012809 MONDO:0005509 False histiocytoma, Angiomatoid fibrous histiocytoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012814 MONDO:0003847 False diastasis recti and weakness of the linea alba hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012815 MONDO:0020247 False Coats plus syndrome congenital vitreoretinal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012815 MONDO:0100137 False Coats plus syndrome telomere syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012817 MONDO:0003847 False Ewing sarcoma hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0012818 MONDO:0018911 False maturity-onset diabetes of the young type 9 maturity-onset diabetes of the young UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS MONDO:0012819 MONDO:0005015 False diabetic ketoacidosis diabetes mellitus UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0012820 MONDO:0015356 False colorectal cancer, susceptibility to, 3 hereditary neoplastic syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012821 MONDO:0015356 False colorectal cancer, susceptibility to, 5 hereditary neoplastic syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012822 MONDO:0015356 False colorectal cancer, susceptibility to, 6 hereditary neoplastic syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012823 MONDO:0015356 False colorectal cancer, susceptibility to, 7 hereditary neoplastic syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012824 MONDO:0017226 False hypomyelinating leukodystrophy 4 Pelizaeus-Merzbacher-like disease UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012826 MONDO:0020573 False scoliosis, isolated, susceptibility to, 4 inherited disease susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012827 MONDO:0020573 False scoliosis, isolated, susceptibility to, 5 inherited disease susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012830 MONDO:0016909 False chromosome 10q23 deletion syndrome partial monosomy of the long arm of chromosome 10 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012833 MONDO:0000426 False Crouzon syndrome-acanthosis nigricans syndrome autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0012833 MONDO:0015338 False Crouzon syndrome-acanthosis nigricans syndrome syndromic craniosynostosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012834 MONDO:0020573 False systemic lupus erythematosus, susceptibility to, 10 inherited disease susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012835 MONDO:0020573 False systemic lupus erythematosus, susceptibility to, 11 inherited disease susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012836 MONDO:0020573 False systemic lupus erythematosus, susceptibility to, 12 inherited disease susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012839 MONDO:0015979 False pyogenic bacterial infections due to MyD88 deficiency hereditary predisposition to infections UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012843 MONDO:0020573 False epilepsy, childhood absence, susceptibility to, 5 inherited disease susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012847 MONDO:0017778 False autosomal recessive congenital ichthyosis 6 lamellar ichthyosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012847 MONDO:0019306 False autosomal recessive congenital ichthyosis 6 congenital non-bullous ichthyosiform erythroderma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -22079,24 +25812,14 @@ MONDO:0012850 MONDO:0001343 False hypophosphatemic nephrolithiasis/osteoporosis MONDO:0012850 MONDO:0100191 False hypophosphatemic nephrolithiasis/osteoporosis 1 inherited kidney disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012851 MONDO:0001343 False hypophosphatemic nephrolithiasis/osteoporosis 2 impaired renal function disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012851 MONDO:0100191 False hypophosphatemic nephrolithiasis/osteoporosis 2 inherited kidney disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012853 MONDO:0015161 False Fontaine progeroid syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012853 MONDO:0019287 False Fontaine progeroid syndrome ectodermal dysplasia syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0012854 MONDO:0003847 False bilateral microtia-deafness-cleft palate syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012856 MONDO:0000426 False Birk-Barel syndrome autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0012857 MONDO:0019212 False porokeratosis 5, disseminated superficial actinic type disseminated superficial actinic porokeratosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012858 MONDO:0003689 False primary CD59 deficiency familial hemolytic anemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012858 MONDO:0020127 False primary CD59 deficiency hereditary peripheral neuropathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012859 MONDO:0005046 False autosomal recessive osteopetrosis 7 immune system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0012860 MONDO:0019145 False thrombophilia due to protein C deficiency, autosomal recessive hereditary thrombophilia due to congenital protein C deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0012862 MONDO:0020573 False attention deficit-hyperactivity disorder, susceptibility to, 5 inherited disease susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012863 MONDO:0020573 False attention deficit-hyperactivity disorder, susceptibility to, 6 inherited disease susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012864 MONDO:0016901 False chromosome 2q32-q33 deletion syndrome partial deletion of the long arm of chromosome 2 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012864 MONDO:0100147 False chromosome 2q32-q33 deletion syndrome SATB2 associated disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012865 MONDO:0003847 False Pseudofolliculitis barbae hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012867 MONDO:0015087 False hereditary spastic paraplegia 38 autosomal dominant complex spastic paraplegia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012868 MONDO:0000426 False thrombophilia due to protein S deficiency, autosomal dominant autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0012868 MONDO:0019144 False thrombophilia due to protein S deficiency, autosomal dominant hereditary thrombophilia due to congenital protein S deficiency UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0012869 MONDO:0015802 False intellectual disability, autosomal dominant 22 autosomal dominant non-syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0012870 MONDO:0016901 False chromosome 2q31.2 deletion syndrome partial deletion of the long arm of chromosome 2 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012871 MONDO:0013372 False Jervell and Lange-Nielsen syndrome 2 long QT syndrome 5 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0012873 MONDO:0007526 False Ehlers-Danlos syndrome, spondylocheirodysplastic type Ehlers-Danlos syndrome, spondylodysplastic type UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS @@ -22112,29 +25835,22 @@ MONDO:0012881 MONDO:0004985 False major affective disorder 7 bipolar disorder UN MONDO:0012882 MONDO:0003847 False major affective disorder 9 hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012882 MONDO:0004985 False major affective disorder 9 bipolar disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012884 MONDO:0020573 False systemic lupus erythematosus, susceptibility to, 13 inherited disease susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012885 MONDO:0017749 False SRD5A3-congenital disorder of glycosylation disorder of multiple glycosylation UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012888 MONDO:0020573 False sarcoidosis, susceptibility to, 2 inherited disease susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012889 MONDO:0020573 False sarcoidosis, susceptibility to, 3 inherited disease susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012890 MONDO:0016759 False pontocerebellar hypoplasia type 2B pontocerebellar hypoplasia type 2 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0012891 MONDO:0016759 False pontocerebellar hypoplasia type 2C pontocerebellar hypoplasia type 2 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0012892 MONDO:0019755 False bone fragility with contractures, arterial rupture, and deafness developmental defect during embryogenesis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012892 MONDO:0023603 False bone fragility with contractures, arterial rupture, and deafness hereditary disorder of connective tissue UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012893 MONDO:0020573 False osteoarthritis susceptibility 5 inherited disease susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012894 MONDO:0020573 False osteoarthritis susceptibility 6 inherited disease susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012895 MONDO:0015990 False torsion dystonia 17 focal, segmental or multifocal dystonia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012896 MONDO:0100171 False psoriasis 10, susceptibility to psoriasis, susceptibility to UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012897 MONDO:0000429 False congenital factor XI deficiency autosomal genetic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0012897 MONDO:0002243 False congenital factor XI deficiency hemorrhagic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0012897 MONDO:0021181 False congenital factor XI deficiency inherited blood coagulation disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012897 MONDO:0009332 False congenital factor XI deficiency congenital hematological disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012897 MONDO:0020587 False congenital factor XI deficiency factor XI deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012898 MONDO:0100049 False narcolepsy 4, susceptibility to narcolepsy, susceptibility to UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012899 MONDO:0005339 False alopecia, androgenetic, 3 androgenetic alopecia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012901 MONDO:0002242 False inherited prekallikrein deficiency coagulation protein disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012901 MONDO:0002243 False inherited prekallikrein deficiency hemorrhagic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012901 MONDO:0021181 False inherited prekallikrein deficiency inherited blood coagulation disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012901 MONDO:0044744 False inherited prekallikrein deficiency prekallikrein deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012905 MONDO:0800470 False hypomyelinating leukodystrophy 6 TUBB4A-related neurologic disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012907 MONDO:0005328 False blindness - scoliosis - arachnodactyly syndrome eye disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012907 MONDO:0019755 False blindness - scoliosis - arachnodactyly syndrome developmental defect during embryogenesis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012908 MONDO:0000015 False complement component 6 deficiency classic complement early component deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012908 MONDO:0015700 False complement component 6 deficiency immunodeficiency due to a late component of complement deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012909 MONDO:0003847 False skeletal defects, genital hypoplasia, and intellectual disability hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -22142,25 +25858,14 @@ MONDO:0012910 MONDO:0005562 False age-related hearing impairment 1 age-related h MONDO:0012910 MONDO:0037940 False age-related hearing impairment 1 inherited auditory system disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012911 MONDO:0018379 False pseudohypoparathyroidism type 1C primary avascular necrosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012911 MONDO:0018383 False pseudohypoparathyroidism type 1C osteonecrosis of genetic origin UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012911 MONDO:0019695 False pseudohypoparathyroidism type 1C acromelic dysplasia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012911 MONDO:0019992 False pseudohypoparathyroidism type 1C pseudohypoparathyroidism UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012911 MONDO:0800466 False pseudohypoparathyroidism type 1C disorder of GNAS inactivation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012912 MONDO:0019695 False pseudopseudohypoparathyroidism acromelic dysplasia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012912 MONDO:0019992 False pseudopseudohypoparathyroidism pseudohypoparathyroidism UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0012912 MONDO:0800466 False pseudopseudohypoparathyroidism disorder of GNAS inactivation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012913 MONDO:0008681 False Wilms tumor, aniridia, genitourinary anomalies, intellectual disability, and obesity syndrome WAGR syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING -MONDO:0012914 MONDO:0022756 False chromosome 1q21.1 deletion syndrome chromosome 1q deletion UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012915 MONDO:0016952 False chromosome 1q21.1 duplication syndrome partial duplication of the long arm of chromosome 1 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012916 MONDO:0016884 False chromosome 2p16.1-p15 deletion syndrome partial deletion of the short arm of chromosome 2 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012919 MONDO:0010255 False type 1 diabetes mellitus 20 diabetes mellitus, insulin-dependent, X-linked, susceptibility to UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0012920 MONDO:0010255 False type 1 diabetes mellitus 21 diabetes mellitus, insulin-dependent, X-linked, susceptibility to UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0012921 MONDO:0010255 False type 1 diabetes mellitus 22 diabetes mellitus, insulin-dependent, X-linked, susceptibility to UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0012923 MONDO:0018883 False congenital generalized lipodystrophy type 3 Berardinelli-Seip congenital lipodystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012926 MONDO:0015048 False amelogenesis imperfecta hypomaturation type 2A2 amelogenesis imperfecta type 2 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012927 MONDO:0022756 False chromosome 1q41-q42 deletion syndrome chromosome 1q deletion UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012928 MONDO:0015149 False hereditary spastic paraplegia 42 pure hereditary spastic paraplegia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012929 MONDO:0019952 False Compton-North congenital myopathy congenital myopathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS -MONDO:0012930 MONDO:0028226 False autosomal recessive severe congenital neutropenia due to G6PC3 deficiency autosomal recessive severe congenital neutropenia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012931 MONDO:0020573 False focal segmental glomerulosclerosis 4, susceptibility to inherited disease susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012934 MONDO:0015356 False leukemia, chronic lymphocytic, susceptibility to, 3 hereditary neoplastic syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012935 MONDO:0015356 False leukemia, chronic lymphocytic, susceptibility to, 4 hereditary neoplastic syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -22171,8 +25876,6 @@ MONDO:0012943 MONDO:0800393 False retinitis pigmentosa 46 IDH3B-related retinopa MONDO:0012944 MONDO:0018050 False chromosome 17P13.3, telomeric, duplication syndrome tibial aplasia-ectrodactyly syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012944 MONDO:0019713 False chromosome 17P13.3, telomeric, duplication syndrome non-syndromic limb reduction defect UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012948 MONDO:0011119 False chromosome 6pter-p24 deletion syndrome iridogoniodysgenesis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0012948 MONDO:0015159 False chromosome 6pter-p24 deletion syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012948 MONDO:0016888 False chromosome 6pter-p24 deletion syndrome partial deletion of the short arm of chromosome 6 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012951 MONDO:0015356 False colorectal cancer, susceptibility to, 8 hereditary neoplastic syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012952 MONDO:0015356 False colorectal cancer, susceptibility to, 9 hereditary neoplastic syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012953 MONDO:0015356 False colorectal cancer, susceptibility to, 10 hereditary neoplastic syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -22180,71 +25883,39 @@ MONDO:0012954 MONDO:0015356 False colorectal cancer, susceptibility to, 11 hered MONDO:0012955 MONDO:0015356 False lung cancer susceptibility 4 hereditary neoplastic syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012959 MONDO:0100171 False psoriasis 11, susceptibility to psoriasis, susceptibility to UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012961 MONDO:0010255 False type 1 diabetes mellitus 23 diabetes mellitus, insulin-dependent, X-linked, susceptibility to UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING -MONDO:0012964 MONDO:0016913 False chromosome 15q26-qter deletion syndrome partial deletion of the long arm of chromosome 15 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012967 MONDO:0003689 False hemolytic anemia due to adenylate kinase deficiency familial hemolytic anemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012968 MONDO:0010168 False Usher syndrome type 1H Usher syndrome type 1 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0012980 MONDO:0003847 False endocrine-cerebro-osteodysplasia syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0012980 MONDO:0005172 False endocrine-cerebro-osteodysplasia syndrome skeletal system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012980 MONDO:0043009 False endocrine-cerebro-osteodysplasia syndrome hereditary lethal multiple congenital anomalies/dysmorphic syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012981 MONDO:0019350 False hereditary spherocytosis type 4 hereditary spherocytosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0012982 MONDO:0019216 False episodic ataxia type 6 inborn disorder of amino acid transport UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012984 MONDO:0006025 False PHARC syndrome autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0012984 MONDO:0015905 False PHARC syndrome syndromic dyslipidemia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012984 MONDO:0018117 False PHARC syndrome disorder of phospholipids, sphingolipids and fatty acids biosynthesis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012984 MONDO:0020127 False PHARC syndrome hereditary peripheral neuropathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012985 MONDO:0019350 False hereditary spherocytosis type 5 hereditary spherocytosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0012986 MONDO:0003847 False bilateral parasagittal parieto-occipital polymicrogyria hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0012986 MONDO:0017091 False bilateral parasagittal parieto-occipital polymicrogyria bilateral polymicrogyria UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012987 MONDO:0011096 False agammaglobulinemia 6, autosomal recessive autosomal agammaglobulinemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012988 MONDO:0018800 False hypogonadotropic hypogonadism 6 with or without anosmia Kallmann syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0012990 MONDO:0800099 False Leber congenital amaurosis 13 RDH12-related recessive retinopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012991 MONDO:0006025 False Kahrizi syndrome autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0012992 MONDO:0001684 False pancreatic insufficiency-anemia-hyperostosis syndrome exocrine pancreatic insufficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012992 MONDO:0009068 False pancreatic insufficiency-anemia-hyperostosis syndrome cytochrome-c oxidase deficiency disease UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING -MONDO:0012992 MONDO:0016387 False pancreatic insufficiency-anemia-hyperostosis syndrome mitochondrial oxidative phosphorylation disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012992 MONDO:0018230 False pancreatic insufficiency-anemia-hyperostosis syndrome skeletal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012992 MONDO:0019403 False pancreatic insufficiency-anemia-hyperostosis syndrome congenital dyserythropoietic anemia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING -MONDO:0012994 MONDO:0016812 False dopa-responsive dystonia due to sepiapterin reductase deficiency dopa-responsive dystonia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012994 MONDO:0044807 False dopa-responsive dystonia due to sepiapterin reductase deficiency inherited dystonia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0012994 MONDO:0045014 False dopa-responsive dystonia due to sepiapterin reductase deficiency tetrahydrobiopterin metabolic process disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012996 MONDO:0045018 False AGAT deficiency creatine biosynthetic process disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012997 MONDO:0003847 False cholestasis-pigmentary retinopathy-cleft palate syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012998 MONDO:0003847 False faciocardiomelic syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012999 MONDO:0045018 False guanidinoacetate methyltransferase deficiency creatine biosynthetic process disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013000 MONDO:0002520 False porphyria due to ALA dehydratase deficiency hepatic porphyria UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013000 MONDO:0019142 False porphyria due to ALA dehydratase deficiency inherited porphyria UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013002 MONDO:0800398 False cone-rod dystrophy 9 ADAM9-related retinopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013003 MONDO:0001165 False isolated congenital hypoglossia/aglossia tongue disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013003 MONDO:0017139 False isolated congenital hypoglossia/aglossia oromandibular-limb hypogenesis syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013004 MONDO:0003847 False hypotonia, seizures, and precocious puberty hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013005 MONDO:0015962 False EAST syndrome inherited renal tubular disease UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013005 MONDO:0100309 False EAST syndrome hereditary ataxia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0013007 MONDO:0015695 False combined immunodeficiency due to ORAI1 deficiency combined immunodeficiency due to CRAC channel dysfunction UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013008 MONDO:0015695 False combined immunodeficiency due to STIM1 deficiency combined immunodeficiency due to CRAC channel dysfunction UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013009 MONDO:0003847 False Megarbane-Jalkh syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013013 MONDO:0000107 False question mark ears, isolated auriculocondylar syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0013014 MONDO:0100510 False spondyloepimetaphyseal dysplasia, aggrecan type spondyloepimetaphyseal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013016 MONDO:0017570 False leukocyte adhesion deficiency 3 leukocyte adhesion deficiency UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0013016 MONDO:0019026 False leukocyte adhesion deficiency 3 autosomal recessive osteopetrosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0013017 MONDO:0018631 False hypotrichosis 5 Marie Unna hereditary hypotrichosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013018 MONDO:0000136 False keratosis follicularis spinulosa decalvans, autosomal dominant keratosis follicularis spinulosa decalvans UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0013020 MONDO:0100049 False narcolepsy 5, susceptibility to narcolepsy, susceptibility to UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013021 MONDO:0005046 False sterile multifocal osteomyelitis with periostitis and pustulosis immune system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013021 MONDO:0023603 False sterile multifocal osteomyelitis with periostitis and pustulosis hereditary disorder of connective tissue UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013024 MONDO:0005149 False chronic thromboembolic pulmonary hypertension pulmonary hypertension UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013025 MONDO:0016905 False chromosome 6q24-q25 deletion syndrome partial deletion of the long arm of chromosome 6 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013026 MONDO:0000763 False subepithelial mucinous corneal dystrophy epithelial and subepithelial corneal dystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0013026 MONDO:0020212 False subepithelial mucinous corneal dystrophy superficial corneal dystrophy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013027 MONDO:0020213 False posterior amorphous corneal dystrophy stromal corneal dystrophy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0013028 MONDO:0009637 False adenosine monophosphate deaminase deficiency inborn mitochondrial myopathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013028 MONDO:0019236 False adenosine monophosphate deaminase deficiency inborn disorder of purine metabolism UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013032 MONDO:0020573 False epilepsy, idiopathic generalized, susceptibility to, 8 inherited disease susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013033 MONDO:0100500 False cerebral palsy, spastic quadriplegic, 2 Mendelian neurodevelopmental disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013034 MONDO:0018865 False keratosis palmoplantaris striata 2 striate palmoplantar keratoderma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0013036 MONDO:0015159 False Zechi-Ceide syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013037 MONDO:0003847 False Giacheti syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013038 MONDO:0005073 False CLOVES syndrome melanocytic nevus UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013038 MONDO:0019296 False CLOVES syndrome subcutaneous tissue disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013038 MONDO:0100118 False CLOVES syndrome hereditary skin disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013038 MONDO:0700245 False CLOVES syndrome syndromic disorder of cell proliferation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013039 MONDO:0800063 False 3M syndrome 2 primordial dwarfism and slender bone disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -22254,42 +25925,30 @@ MONDO:0013042 MONDO:0035290 False atypical hemolytic-uremic syndrome with B fact MONDO:0013043 MONDO:0035290 False atypical hemolytic-uremic syndrome with C3 anomaly atypical hemolytic uremic syndrome with complement gene abnormality UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013044 MONDO:0035290 False atypical hemolytic-uremic syndrome with thrombomodulin anomaly atypical hemolytic uremic syndrome with complement gene abnormality UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013045 MONDO:0000070 False mycobacterium tuberculosis, susceptibility to, 3 mycobacterium tuberculosis, susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013046 MONDO:0002412 False glycogen storage disease due to muscle beta-enolase deficiency disorder of glycogen metabolism UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0013046 MONDO:0017688 False glycogen storage disease due to muscle beta-enolase deficiency disorder of glycolysis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013047 MONDO:0002412 False glycogen storage disease due to lactate dehydrogenase M-subunit deficiency disorder of glycogen metabolism UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0013047 MONDO:0017688 False glycogen storage disease due to lactate dehydrogenase M-subunit deficiency disorder of glycolysis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013049 MONDO:0017749 False DPM3-congenital disorder of glycosylation disorder of multiple glycosylation UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013049 MONDO:0018276 False DPM3-congenital disorder of glycosylation muscular dystrophy-dystroglycanopathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013050 MONDO:0003847 False lethal polymalformative syndrome, Boissel type hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013050 MONDO:0043009 False lethal polymalformative syndrome, Boissel type hereditary lethal multiple congenital anomalies/dysmorphic syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013051 MONDO:0019573 False autosomal recessive cutis laxa type 2B autosomal recessive cutis laxa type 2 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013051 MONDO:0800064 False autosomal recessive cutis laxa type 2B osteogenesis imperfecta and a reduction of bone mineral density. UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013053 MONDO:0005267 False microcephaly-facio-cardio-skeletal syndrome, Hadziselimovic type heart disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013053 MONDO:0015161 False microcephaly-facio-cardio-skeletal syndrome, Hadziselimovic type multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013054 MONDO:0003847 False microcephaly, growth retardation, cataract, hearing loss, and unusual appearance hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013055 MONDO:0003847 False Stargardt macular degeneration, absent or hypoplastic corpus callosum, intellectual disability, and dysmorphic features hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013056 MONDO:0016801 False developmental and epileptic encephalopathy, 39 mitochondrial substrate carrier disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013056 MONDO:0100455 False developmental and epileptic encephalopathy, 39 neonatal-onset developmental and epileptic encephalopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013057 MONDO:0100171 False psoriasis 12, susceptibility to psoriasis, susceptibility to UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013058 MONDO:0019046 False cystic leukoencephalopathy without megalencephaly leukodystrophy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS -MONDO:0013060 MONDO:0008199 False autosomal recessive Parkinson disease 14 late-onset Parkinson disease UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS -MONDO:0013060 MONDO:0017998 False autosomal recessive Parkinson disease 14 PLA2G6-associated neurodegeneration UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013063 MONDO:0003847 False ventricular fibrillation, paroxysmal familial, 2 hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013063 MONDO:0100234 False ventricular fibrillation, paroxysmal familial, 2 paroxysmal familial ventricular fibrillation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013066 MONDO:0016674 False 46,XY sex reversal 3 46,XY partial gonadal dysgenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013068 MONDO:0005562 False age-related hearing impairment 2 age-related hearing impairment UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013068 MONDO:0037940 False age-related hearing impairment 2 inherited auditory system disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013069 MONDO:0016387 False autosomal recessive optic atrophy, OPA7 type mitochondrial oxidative phosphorylation disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013071 MONDO:0020336 False Emery-Dreifuss muscular dystrophy 4, autosomal dominant autosomal dominant Emery-Dreifuss muscular dystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013072 MONDO:0020336 False Emery-Dreifuss muscular dystrophy 5, autosomal dominant autosomal dominant Emery-Dreifuss muscular dystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013073 MONDO:0017672 False palmoplantar keratoderma, nonepidermolytic, focal 1 focal palmoplantar keratoderma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013074 MONDO:0019296 False encephalocraniocutaneous lipomatosis subcutaneous tissue disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013074 MONDO:0021440 False encephalocraniocutaneous lipomatosis benign neoplasm of skin UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013074 MONDO:0023603 False encephalocraniocutaneous lipomatosis hereditary disorder of connective tissue UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013074 MONDO:0100118 False encephalocraniocutaneous lipomatosis hereditary skin disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013076 MONDO:0020573 False attention deficit-hyperactivity disorder, susceptibility to, 7 inherited disease susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013077 MONDO:0003847 False Santos syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013078 MONDO:0010255 False type 1 diabetes mellitus 24 diabetes mellitus, insulin-dependent, X-linked, susceptibility to UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0013081 MONDO:0021094 False lymphoproliferative syndrome 1 immunodeficiency disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0013082 MONDO:0002254 False Hirschsprung disease-ganglioneuroblastoma syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013082 MONDO:0021189 False Hirschsprung disease-ganglioneuroblastoma syndrome intestinal motility disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013083 MONDO:0015356 False neuroblastoma, susceptibility to, 3 hereditary neoplastic syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -22299,13 +25958,11 @@ MONDO:0013086 MONDO:0015356 False neuroblastoma, susceptibility to, 6 hereditary MONDO:0013087 MONDO:0018956 False bronchiectasis with or without elevated sweat chloride 2 idiopathic bronchiectasis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013088 MONDO:0015356 False follicular lymphoma, susceptibility to, 1 hereditary neoplastic syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013089 MONDO:0100182 False schizophrenia 13 schizophrenia, susceptibility to UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013090 MONDO:0015159 False chromosome 19q13.11 deletion syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013090 MONDO:0016917 False chromosome 19q13.11 deletion syndrome partial deletion of the long arm of chromosome 19 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013091 MONDO:0020693 False glycogen storage disease IXc glycogen storage disease due to liver phosphorylase kinase deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0013098 MONDO:0005365 False noise induced hearing loss hearing loss disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013098 MONDO:0037940 False noise induced hearing loss inherited auditory system disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013099 MONDO:0002320 False combined pituitary hormone deficiencies, genetic form congenital nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013099 MONDO:0005152 False combined pituitary hormone deficiencies, genetic form hypopituitarism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013099 MONDO:0015770 False combined pituitary hormone deficiencies, genetic form congenital hypogonadotropic hypogonadism UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013101 MONDO:0100047 False basal cell carcinoma, susceptibility to, 2 basal cell carcinoma, susceptibility to UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013102 MONDO:0100047 False basal cell carcinoma, susceptibility to, 3 basal cell carcinoma, susceptibility to UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013103 MONDO:0020573 False epilepsy, idiopathic generalized, susceptibility to, 10 inherited disease susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -22317,42 +25974,25 @@ MONDO:0013108 MONDO:0015356 False leukemia, acute lymphocytic, susceptibility to MONDO:0013108 MONDO:0020683 False leukemia, acute lymphocytic, susceptibility to, 1 acute disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013109 MONDO:0015356 False leukemia, acute lymphocytic, susceptibility to, 2 hereditary neoplastic syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013109 MONDO:0020683 False leukemia, acute lymphocytic, susceptibility to, 2 acute disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013110 MONDO:0005528 False neurodegenerative syndrome due to cerebral folate transport deficiency inborn vitamin metabolic disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0013110 MONDO:0017313 False neurodegenerative syndrome due to cerebral folate transport deficiency disorder of folate metabolism and transport UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013110 MONDO:0024237 False neurodegenerative syndrome due to cerebral folate transport deficiency inherited neurodegenerative disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013111 MONDO:0000023 False acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins infantile liver failure UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS -MONDO:0013111 MONDO:0016387 False acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins mitochondrial oxidative phosphorylation disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013111 MONDO:0019542 False acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins acute liver failure UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013112 MONDO:0018956 False bronchiectasis with or without elevated sweat chloride 3 idiopathic bronchiectasis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013113 MONDO:0015177 False metaphyseal anadysplasia 2 metaphyseal anadysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013115 MONDO:0100237 False RIN2 syndrome inherited cutis laxa UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING -MONDO:0013116 MONDO:0009637 False congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome inborn mitochondrial myopathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013116 MONDO:0016387 False congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome mitochondrial oxidative phosphorylation disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013117 MONDO:0008003 False progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5 autosomal dominant progressive external ophthalmoplegia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013118 MONDO:0015161 False Nijmegen breakage syndrome-like disorder multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013118 MONDO:0015327 False Nijmegen breakage syndrome-like disorder developmental anomaly of metabolic origin UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0013118 MONDO:0021190 False Nijmegen breakage syndrome-like disorder DNA repair disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013121 MONDO:0000365 False glaucoma 3, primary congenital, C primary congenital glaucoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013122 MONDO:0000365 False glaucoma 3, primary congenital, D primary congenital glaucoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013122 MONDO:0100236 False glaucoma 3, primary congenital, D LTBP2-related ocular dysgenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013124 MONDO:0020573 False pelvic organ prolapse, susceptibility to, 2 inherited disease susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013125 MONDO:0019716 False CLAPO syndrome overgrowth syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013128 MONDO:0015962 False familial juvenile hyperuricemic nephropathy type 2 inherited renal tubular disease UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013129 MONDO:0000455 False cone dystrophy 4 cone dystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013130 MONDO:0016764 False isolated microphthalmia 4 isolated anophthalmia-microphthalmia syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013132 MONDO:0015087 False hereditary spastic paraplegia 36 autosomal dominant complex spastic paraplegia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013134 MONDO:0005338 False glaucoma 1, open angle, O open-angle glaucoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013134 MONDO:0018174 False glaucoma 1, open angle, O hereditary glaucoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013136 MONDO:0004907 False hereditary hypotrichosis with recurrent skin vesicles alopecia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013138 MONDO:0004900 False vertigo, benign recurrent, 2 peripheral vertigo UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013139 MONDO:0008742 False neutropenia, severe congenital, 2, autosomal dominant autosomal dominant severe congenital neutropenia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0013142 MONDO:0019941 False neuropathy, hereditary sensory and autonomic, type 2B hereditary sensory and autonomic neuropathy type 2 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0013143 MONDO:0018374 False hereditary thrombophilia due to congenital histidine-rich (poly-L) glycoprotein deficiency secondary avascular necrosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013143 MONDO:0018383 False hereditary thrombophilia due to congenital histidine-rich (poly-L) glycoprotein deficiency osteonecrosis of genetic origin UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013144 MONDO:0018374 False hereditary antithrombin deficiency secondary avascular necrosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013144 MONDO:0018383 False hereditary antithrombin deficiency osteonecrosis of genetic origin UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013149 MONDO:0003847 False hydrops fetalis, nonimmune, with gracile bones and dysmorphic features hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013150 MONDO:0002254 False parkinsonism-dystonia, infantile syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013150 MONDO:0020065 False parkinsonism-dystonia, infantile combined dystonia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013150 MONDO:0021095 False parkinsonism-dystonia, infantile parkinsonian disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013152 MONDO:0020573 False systemic lupus erythematosus, susceptibility to, 14 inherited disease susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013153 MONDO:0016542 False inflammatory bowel disease 28 immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -22367,24 +26007,11 @@ MONDO:0013158 MONDO:0018939 False muscular dystrophy-dystroglycanopathy (congeni MONDO:0013159 MONDO:0700070 False muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1 myopathy caused by variation in POMT1 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013160 MONDO:0700071 False muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2 myopathy caused by variation in POMT2 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013161 MONDO:0700068 False autosomal recessive limb-girdle muscular dystrophy type 2O myopathy caused by variation in POMGNT1 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013162 MONDO:0016185 False autosomal recessive limb-girdle muscular dystrophy type 2N qualitative or quantitative defects of protein O-mannosyltransferase 2 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013162 MONDO:0700071 False autosomal recessive limb-girdle muscular dystrophy type 2N myopathy caused by variation in POMT2 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013164 MONDO:0019238 False beta-ureidopropionase deficiency inborn disorder of pyrimidine metabolism UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013165 MONDO:0015150 False hereditary spastic paraplegia 45 complex hereditary spastic paraplegia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013166 MONDO:0000698 False GABA aminotransaminase deficiency gamma-amino butyric acid metabolism disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0013166 MONDO:0017684 False GABA aminotransaminase deficiency disorder of beta and omega amino acid metabolism UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013169 MONDO:0015159 False chromosome 5p13 duplication syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013169 MONDO:0016942 False chromosome 5p13 duplication syndrome partial trisomy/tetrasomy of the short arm of chromosome 5 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013170 MONDO:0006025 False cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0013171 MONDO:0019236 False purine nucleoside phosphorylase deficiency inborn disorder of purine metabolism UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013172 MONDO:0000904 False polymicrogyria with optic nerve hypoplasia complex cortical dysplasia with other brain malformations UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013177 MONDO:0019950 False congenital muscular dystrophy due to integrin alpha-7 deficiency congenital muscular dystrophy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0013178 MONDO:0019950 False congenital muscular dystrophy due to LMNA mutation congenital muscular dystrophy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0013179 MONDO:0015150 False hereditary spastic paraplegia 44 complex hereditary spastic paraplegia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013180 MONDO:0010940 False asthma-related traits, susceptibility to, 8 inherited susceptibility to asthma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0013181 MONDO:0015048 False amelogenesis imperfecta hypomaturation type 2A3 amelogenesis imperfecta type 2 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013182 MONDO:0015159 False chromosome 17p13.3 duplication syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013182 MONDO:0016950 False chromosome 17p13.3 duplication syndrome partial duplication of the short arm of chromosome 17 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013183 MONDO:0800402 False congenital stationary night blindness 1C TRPM1-related retinopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013184 MONDO:0045032 False congenital diarrhea 5 with tufting enteropathy congenital secretory diarrhea UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013185 MONDO:0015979 False leprosy, susceptibility to, 5 hereditary predisposition to infections UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -22397,25 +26024,19 @@ MONDO:0013193 MONDO:0020573 False thyrotoxic periodic paralysis, susceptibility MONDO:0013194 MONDO:0003847 False Pseudopili annulati hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013201 MONDO:0019518 False Waardenburg syndrome type 4B Waardenburg-Shah syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013202 MONDO:0019518 False Waardenburg syndrome type 4C Waardenburg-Shah syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013208 MONDO:0017766 False cirrhosis - dystonia - polycythemia - hypermanganesemia syndrome disorder of manganese transport UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013208 MONDO:0021095 False cirrhosis - dystonia - polycythemia - hypermanganesemia syndrome parkinsonian disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0013209 MONDO:0004790 False metabolic dysfunction-associated steatotic liver disease fatty liver disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0013212 MONDO:0018993 False Charcot-Marie-Tooth disease axonal type 2N Charcot-Marie-Tooth disease type 2 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0013213 MONDO:0020573 False hearing loss, cisplatin-induced, susceptibility to inherited disease susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013214 MONDO:0003847 False bile acid malabsorption, primary, 1 hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013218 MONDO:0700231 False exudative vitreoretinopathy 5 TSPAN12-related exudative vitreoretinopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013219 MONDO:0017324 False hypophosphatemic rickets, autosomal recessive, 2 autosomal recessive hypophosphatemic rickets UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013219 MONDO:0800096 False hypophosphatemic rickets, autosomal recessive, 2 abnormal mineralization disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013220 MONDO:0019257 False hemochromatosis type 2B hemochromatosis type 2 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0013223 MONDO:0800080 False autosomal recessive spondylometaphyseal dysplasia, Megarbane type severe spondylodysplastic dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013224 MONDO:0020560 False rhabdoid tumor predisposition syndrome 2 atypical teratoid rhabdoid tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013226 MONDO:0003778 False combined immunodeficiency with faciooculoskeletal anomalies inborn error of immunity UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013226 MONDO:0015131 False combined immunodeficiency with faciooculoskeletal anomalies combined immunodeficiency UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013226 MONDO:0015160 False combined immunodeficiency with faciooculoskeletal anomalies multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013227 MONDO:0002242 False congenital plasminogen activator inhibitor type 1 deficiency coagulation protein disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013227 MONDO:0002243 False congenital plasminogen activator inhibitor type 1 deficiency hemorrhagic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013227 MONDO:0009332 False congenital plasminogen activator inhibitor type 1 deficiency congenital hematological disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013227 MONDO:0021181 False congenital plasminogen activator inhibitor type 1 deficiency inherited blood coagulation disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013228 MONDO:0016761 False spondylo-megaepiphyseal-metaphyseal dysplasia spondyloepiphyseal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013229 MONDO:0023224 False hot water reflex epilepsy inherited reflex epilepsy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013232 MONDO:0016761 False brachydactylous dwarfism, Mseleni type spondyloepiphyseal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -22425,150 +26046,83 @@ MONDO:0013234 MONDO:0800468 False hypokalemic periodic paralysis, type 2 SCN4A-r MONDO:0013235 MONDO:0015356 False pancreatic cancer, susceptibility to, 2 hereditary neoplastic syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013236 MONDO:0015356 False pancreatic cancer, susceptibility to, 3 hereditary neoplastic syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013237 MONDO:0020573 False susceptibility to mononeuropathy of the median nerve, mild inherited disease susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013238 MONDO:0016915 False chromosome 17q23.1-q23.2 deletion syndrome partial deletion of the long arm of chromosome 17 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013239 MONDO:0015149 False hereditary spastic paraplegia 41 pure hereditary spastic paraplegia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013240 MONDO:0018911 False maturity-onset diabetes of the young type 10 maturity-onset diabetes of the young UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS -MONDO:0013241 MONDO:0019793 False spinocerebellar ataxia type 30 autosomal dominant cerebellar ataxia type III UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013242 MONDO:0018911 False maturity-onset diabetes of the young type 11 maturity-onset diabetes of the young UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS -MONDO:0013243 MONDO:0015352 False neuronopathy, distal hereditary motor, type 2C distal hereditary motor neuropathy type 2 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0013244 MONDO:0019677 False brachydactyly type E2 brachydactyly type E UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013245 MONDO:0003847 False syndromic multisystem autoimmune disease due to ITCH deficiency hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013245 MONDO:0015159 False syndromic multisystem autoimmune disease due to ITCH deficiency multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013246 MONDO:0020573 False fatty liver disease, nonalcoholic, susceptibility to, 2 inherited disease susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013247 MONDO:0007600 False Fanconi renotubular syndrome 2 primary Fanconi syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013251 MONDO:0003847 False Birbeck granule deficiency hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013252 MONDO:0015161 False Warsaw breakage syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013254 MONDO:0001149 False microcephaly, seizures, and developmental delay microcephaly UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0013256 MONDO:0003847 False chromosome 15q24 deletion syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0013256 MONDO:0015159 False chromosome 15q24 deletion syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013256 MONDO:0016913 False chromosome 15q24 deletion syndrome partial deletion of the long arm of chromosome 15 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013257 MONDO:0015979 False leprosy, susceptibility to, 6 hereditary predisposition to infections UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013259 MONDO:0019152 False Oguchi disease-2 Oguchi disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013260 MONDO:0003847 False esophagitis, eosinophilic, 2 hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013260 MONDO:0005361 False esophagitis, eosinophilic, 2 eosinophilic esophagitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013263 MONDO:0800404 False retinitis pigmentosa 54 PCARE-related retinopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013266 MONDO:0015802 False intellectual disability, autosomal dominant 20 autosomal dominant non-syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0013267 MONDO:0016894 False distal 16p11.2 microdeletion syndrome partial deletion of the short arm of chromosome 16 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013268 MONDO:0002051 False frontonasal dysplasia with alopecia and genital anomaly integumentary system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0013270 MONDO:0002320 False Rett syndrome, congenital variant congenital nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013270 MONDO:0017746 False Rett syndrome, congenital variant atypical Rett syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013270 MONDO:0100040 False Rett syndrome, congenital variant FOXG1 disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013272 MONDO:0016912 False chromosome 14q11-q22 deletion syndrome partial deletion of the long arm of chromosome 14 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013273 MONDO:0016949 False chromosome 16p13.3 duplication syndrome partial duplication of the short arm of chromosome 16 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013275 MONDO:0006506 False hemolytic anemia due to glucophosphate isomerase deficiency congenital nonspherocytic hemolytic anemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013275 MONDO:0017688 False hemolytic anemia due to glucophosphate isomerase deficiency disorder of glycolysis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013275 MONDO:0020585 False hemolytic anemia due to glucophosphate isomerase deficiency anemia due to erythrocyte enzyme disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013276 MONDO:0003847 False Reynolds syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013276 MONDO:0007179 False Reynolds syndrome autoimmune disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0013277 MONDO:0018097 False developmental and epileptic encephalopathy, 5 West syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0013280 MONDO:0020561 False myxoid liposarcoma myxoid/round cell liposarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013280 MONDO:0023603 False myxoid liposarcoma hereditary disorder of connective tissue UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013281 MONDO:0017750 False COG4-congenital disorder of glycosylation defect in conserved oligomeric Golgi complex UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013282 MONDO:0002273 False alpha 1-antitrypsin deficiency plasma protein metabolism disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0013282 MONDO:0002254 False alpha 1-antitrypsin deficiency syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0013282 MONDO:0005087 False alpha 1-antitrypsin deficiency respiratory system disorder UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0013287 MONDO:0011096 False agammaglobulinemia 2, autosomal recessive autosomal agammaglobulinemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013288 MONDO:0011096 False agammaglobulinemia 3, autosomal recessive autosomal agammaglobulinemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013289 MONDO:0011096 False agammaglobulinemia 4, autosomal recessive autosomal agammaglobulinemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013290 MONDO:0011096 False agammaglobulinemia 5, autosomal dominant autosomal agammaglobulinemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013291 MONDO:0100314 False glycogen storage disease XV GYG1-related disorder of glycogen metabolism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013292 MONDO:0016903 False chromosome 4q21 deletion syndrome partial deletion of the long arm of chromosome 4 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013293 MONDO:0016764 False isolated microphthalmia 6 isolated anophthalmia-microphthalmia syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013294 MONDO:0100178 False dermatitis, atopic, 8 dermatitis, atopic, susceptibility to UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013295 MONDO:0100178 False dermatitis, atopic, 9 dermatitis, atopic, susceptibility to UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013298 MONDO:0015159 False chromosome 17q21.31 duplication syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013298 MONDO:0016967 False chromosome 17q21.31 duplication syndrome partial duplication of the long arm of chromosome 17 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013299 MONDO:0016905 False chromosome 6q11-q14 deletion syndrome partial deletion of the long arm of chromosome 6 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013300 MONDO:0015411 False commissural facial cleft facial cleft UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013301 MONDO:0019852 False aromatase deficiency inherited primary ovarian failure UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0013301 MONDO:0024575 False aromatase deficiency pregnancy disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013302 MONDO:0019394 False nephronophthisis 11 Senior-Boichis syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013303 MONDO:0020573 False autoimmune disease, susceptibility to, 6 inherited disease susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013304 MONDO:0019565 False von Willebrand disease 2 hereditary von Willebrand disease UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0013308 MONDO:0021060 False CBL-related disorder RASopathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013309 MONDO:0016884 False chromosome 2p12-p11.2 deletion syndrome partial deletion of the short arm of chromosome 2 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013310 MONDO:0005039 False congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency reproductive system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0013311 MONDO:0019287 False ectodermal dysplasia-syndactyly syndrome ectodermal dysplasia syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0013314 MONDO:0700241 False retinitis pigmentosa 56 IMPG2-related recessive retinopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013316 MONDO:0003004 False occult macular dystrophy macular degeneration UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0013316 MONDO:0020242 False occult macular dystrophy hereditary macular dystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013317 MONDO:0007263 False torsade-de-pointes syndrome with short coupling interval cardiac rhythm disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013318 MONDO:0003847 False early repolarization associated with ventricular fibrillation hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013319 MONDO:0003847 False chromosome 4Q32.1-q32.2 triplication syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013319 MONDO:0016955 False chromosome 4Q32.1-q32.2 triplication syndrome partial duplication of the long arm of chromosome 4 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013320 MONDO:0016894 False chromosome 16p12.2-p11.2 deletion syndrome partial deletion of the short arm of chromosome 16 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013321 MONDO:0003847 False forsythe-wakeling syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013324 MONDO:0002013 False lymphedema-posterior choanal atresia syndrome lymphangioma UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013324 MONDO:0003847 False lymphedema-posterior choanal atresia syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013325 MONDO:0002254 False COG5-congenital disorder of glycosylation syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0013325 MONDO:0017750 False COG5-congenital disorder of glycosylation defect in conserved oligomeric Golgi complex UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013329 MONDO:0016046 False familial clubfoot due to 17q23.1q23.2 microduplication familial clubfoot with or without associated lower limb anomalies UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013329 MONDO:0016967 False familial clubfoot due to 17q23.1q23.2 microduplication partial duplication of the long arm of chromosome 17 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013330 MONDO:0003847 False agenesis of the corpus callosum and congenital lymphedema hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013331 MONDO:0018175 False factor 5 and Factor VIII, combined deficiency of, 2 combined deficiency of factor V and factor VIII UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013331 MONDO:0021181 False factor 5 and Factor VIII, combined deficiency of, 2 inherited blood coagulation disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013332 MONDO:0003847 False brachydactyly, type A1, with short stature, scoliosis, microcephaly, ptosis, hearing loss, and intellectual disability hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013333 MONDO:0003847 False odontoid hypoplasia hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013333 MONDO:0005497 False odontoid hypoplasia bone development disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013334 MONDO:0003847 False cocoon syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0013334 MONDO:0019054 False cocoon syndrome congenital limb malformation UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013335 MONDO:0003847 False tuberculin skin test reactivity, absence of hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013336 MONDO:0015159 False chromosome 19p13.13 deletion syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013336 MONDO:0016897 False chromosome 19p13.13 deletion syndrome partial deletion of the short arm of chromosome 19 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013337 MONDO:0018213 False neuropathy, hereditary sensory and autonomic, type 1C hereditary sensory and autonomic neuropathy type 1 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0013338 MONDO:0017058 False Charcot-Marie-Tooth disease recessive intermediate B autosomal recessive intermediate Charcot-Marie-Tooth disease UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013340 MONDO:0020573 False Parkinson disease 5, autosomal dominant, susceptibility to inherited disease susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013341 MONDO:0002012 False methylmalonic acidemia due to transcobalamin receptor defect methylmalonic acidemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0013341 MONDO:0019220 False methylmalonic acidemia due to transcobalamin receptor defect inborn disorder of cobalamin metabolism and transport UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013342 MONDO:0002561 False hereditary spastic paraplegia 48 lysosomal storage disease UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0013343 MONDO:0015699 False C1Q deficiency immunodeficiency due to a classical component pathway complement deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013349 MONDO:0017740 False ALG11-congenital disorder of glycosylation disorder of protein N-glycosylation UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013351 MONDO:0002602 False infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly central nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0013351 MONDO:0003847 False infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0013352 MONDO:0000508 False intellectual disability-severe speech delay-mild dysmorphism syndrome syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0013352 MONDO:0003847 False intellectual disability-severe speech delay-mild dysmorphism syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0013353 MONDO:0003847 False intellectual disability, anterior maxillary protrusion, and strabismus hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013354 MONDO:0016387 False spastic ataxia 4 mitochondrial oxidative phosphorylation disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013354 MONDO:0017847 False spastic ataxia 4 autosomal recessive spastic ataxia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013355 MONDO:0000577 False congenital dyserythropoietic anemia type 4 congenital anemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013357 MONDO:0016915 False chromosome 17q11.2 deletion syndrome, 1.4Mb partial deletion of the long arm of chromosome 17 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013357 MONDO:0018975 False chromosome 17q11.2 deletion syndrome, 1.4Mb neurofibromatosis type 1 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS MONDO:0013358 MONDO:0700054 False Seckel syndrome 4 microcephaly 6 with or without short stature UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013360 MONDO:0015262 False brachyolmia, Maroteaux type brachyolmia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013361 MONDO:0006025 False congenital prothrombin deficiency autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0013361 MONDO:0015722 False congenital prothrombin deficiency congenital vitamin K-dependent coagulation factors deficiency UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS MONDO:0013361 MONDO:0024307 False congenital prothrombin deficiency prothrombin deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013362 MONDO:0003847 False THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013362 MONDO:0015159 False THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013363 MONDO:0007977 False chromosome 2q31.1 duplication syndrome mesomelic dysplasia, Kantaputra type UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING -MONDO:0013363 MONDO:0016953 False chromosome 2q31.1 duplication syndrome partial duplication of the long arm of chromosome 2 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013366 MONDO:0010180 False spondylocostal dysostosis 4, autosomal recessive autosomal recessive spondylocostal dysostosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013368 MONDO:0002263 False mammary-digital-nail syndrome female reproductive system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013368 MONDO:0003847 False mammary-digital-nail syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013368 MONDO:0018234 False mammary-digital-nail syndrome dysostosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013368 MONDO:0019054 False mammary-digital-nail syndrome congenital limb malformation UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013374 MONDO:0003847 False supernumerary der(22)t(8;22) syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013377 MONDO:0016764 False isolated microphthalmia 7 isolated anophthalmia-microphthalmia syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013378 MONDO:0016044 False orofacial cleft 10 cleft lip/palate UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013381 MONDO:0018213 False neuropathy, hereditary sensory, type 1D hereditary sensory and autonomic neuropathy type 1 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0013382 MONDO:0020127 False progressive demyelinating neuropathy with bilateral striatal necrosis hereditary peripheral neuropathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013383 MONDO:0100179 False Hirschsprung disease, susceptibility to, 3 Hirschsprung disease, susceptibility to UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013384 MONDO:0100179 False Hirschsprung disease, susceptibility to, 4 Hirschsprung disease, susceptibility to UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013389 MONDO:0017385 False developmental and epileptic encephalopathy, 12 malignant migrating partial seizures of infancy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013389 MONDO:0018097 False developmental and epileptic encephalopathy, 12 West syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0013389 MONDO:0100455 False developmental and epileptic encephalopathy, 12 neonatal-onset developmental and epileptic encephalopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013390 MONDO:0016198 False autosomal recessive limb-girdle muscular dystrophy type 2Q qualitative or quantitative defects of plectin UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013391 MONDO:0019046 False sterol carrier protein 2 deficiency leukodystrophy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING -MONDO:0013391 MONDO:0019233 False sterol carrier protein 2 deficiency disorder of peroxisomal beta oxidation UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013393 MONDO:0016906 False distal 7q11.23 microdeletion syndrome partial deletion of the long arm of chromosome 7 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013394 MONDO:0003847 False porencephaly-microcephaly-bilateral congenital cataract syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013394 MONDO:0021147 False porencephaly-microcephaly-bilateral congenital cataract syndrome disorder of development or morphogenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013396 MONDO:0003847 False chromosome 1p32-p31 deletion syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0013396 MONDO:0015160 False chromosome 1p32-p31 deletion syndrome multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013396 MONDO:0016883 False chromosome 1p32-p31 deletion syndrome partial deletion of the short arm of chromosome 1 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013400 MONDO:0003847 False Congenital adrenal insuffiency with 46, XY sex reversal OR 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0013400 MONDO:0005495 False Congenital adrenal insuffiency with 46, XY sex reversal OR 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency adrenal gland disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0013400 MONDO:0020040 False Congenital adrenal insuffiency with 46, XY sex reversal OR 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency 46,XY disorder of sex development UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013404 MONDO:0000351 False hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase disorder of methionine catabolism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0013405 MONDO:0800405 False retinitis pigmentosa 49 CNGA1-related retinopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013409 MONDO:0100174 False age related macular degeneration 5 age related macular degeneration, susceptibility to UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013410 MONDO:0016674 False 46,XY sex reversal 6 46,XY partial gonadal dysgenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -22583,13 +26137,8 @@ MONDO:0013421 MONDO:0000015 False type II complement component 8 deficiency clas MONDO:0013421 MONDO:0015700 False type II complement component 8 deficiency immunodeficiency due to a late component of complement deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013422 MONDO:0000015 False type I complement component 8 deficiency classic complement early component deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013422 MONDO:0015700 False type I complement component 8 deficiency immunodeficiency due to a late component of complement deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013424 MONDO:0016885 False 3p- syndrome partial deletion of the short arm of chromosome 3 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013424 MONDO:0017393 False 3p- syndrome blepharophimosis - intellectual disability syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013425 MONDO:0100368 False retinitis pigmentosa 20 RPE65-related recessive retinopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013427 MONDO:0015979 False immunodeficiency 31B hereditary predisposition to infections UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013433 MONDO:0018646 False primary sclerosing cholangitis sclerosing cholangitis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0013437 MONDO:0700224 False retinitis pigmentosa 43 PDE6A-related retinopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013438 MONDO:0016759 False pontocerebellar hypoplasia type 2D pontocerebellar hypoplasia type 2 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0013440 MONDO:0015286 False autosomal recessive limb-girdle muscular dystrophy type 2P congenital disorder of glycosylation UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0013443 MONDO:0800063 False Seckel syndrome 5 primordial dwarfism and slender bone disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013445 MONDO:0000015 False complement component 9 deficiency classic complement early component deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -22599,64 +26148,37 @@ MONDO:0013452 MONDO:0003847 False multisystemic smooth muscle dysfunction syndro MONDO:0013452 MONDO:0005385 False multisystemic smooth muscle dysfunction syndrome vascular disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013452 MONDO:0021189 False multisystemic smooth muscle dysfunction syndrome intestinal motility disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013456 MONDO:0001700 False constitutional megaloblastic anemia with severe neurologic disease megaloblastic anemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013456 MONDO:0016624 False constitutional megaloblastic anemia with severe neurologic disease inherited deficiency anemia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013456 MONDO:0017313 False constitutional megaloblastic anemia with severe neurologic disease disorder of folate metabolism and transport UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013458 MONDO:0005149 False hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome pulmonary hypertension UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013458 MONDO:0015962 False hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome inherited renal tubular disease UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013458 MONDO:0016387 False hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome mitochondrial oxidative phosphorylation disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013459 MONDO:0800064 False osteogenesis imperfecta type 10 osteogenesis imperfecta and a reduction of bone mineral density. UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013460 MONDO:0800064 False osteogenesis imperfecta type 12 osteogenesis imperfecta and a reduction of bone mineral density. UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013461 MONDO:0003847 False inosine triphosphatase deficiency hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013462 MONDO:0003847 False fucosyltransferase 6 deficiency hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013463 MONDO:0000119 False congenital heart defects, multiple types, 6 congenital heart defects, multiple types UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013463 MONDO:0019443 False congenital heart defects, multiple types, 6 dextro-looped transposition of the great arteries UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0013465 MONDO:0018852 False achromatopsia 4 achromatopsia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0013465 MONDO:0800392 False achromatopsia 4 GNAT2-related retinopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013469 MONDO:0800394 False retinitis pigmentosa 38 MERTK-related retinopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013473 MONDO:0003847 False Hirschsprung disease, cardiac defects, and autonomic dysfunction hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013480 MONDO:0018101 False renal hypomagnesemia 6 familial primary hypomagnesemia with normocalciuria and normocalcemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013481 MONDO:0002254 False chromosome 13q14 deletion syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0013481 MONDO:0016911 False chromosome 13q14 deletion syndrome partial deletion of the long arm of chromosome 13 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013483 MONDO:0003847 False obesity, hyperphagia, and developmental delay hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013485 MONDO:0019792 False spinocerebellar ataxia type 35 autosomal dominant cerebellar ataxia type I UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013486 MONDO:0019792 False spinocerebellar ataxia type 32 autosomal dominant cerebellar ataxia type I UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013487 MONDO:0003832 False recurrent Neisseria infections due to factor D deficiency complement deficiency UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013488 MONDO:0003847 False lipodystrophy, partial, acquired, with low complement component c3, with or without glomerulonephritis hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013490 MONDO:0011391 False megalencephalic leukoencephalopathy with subcortical cysts 2A megalencephalic leukoencephalopathy with subcortical cysts UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0013491 MONDO:0011391 False megalencephalic leukoencephalopathy with subcortical cysts 2B, remitting, with or without intellectual disability megalencephalic leukoencephalopathy with subcortical cysts UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0013493 MONDO:0003847 False acetyl-coa carboxylase deficiency hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013495 MONDO:0017778 False autosomal recessive congenital ichthyosis 8 lamellar ichthyosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013496 MONDO:0020573 False IgA nephropathy, susceptibility to, 2 inherited disease susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013497 MONDO:0003847 False Okt4 epitope deficiency hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013498 MONDO:0003847 False schizophrenia 15 hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0013498 MONDO:0005090 False schizophrenia 15 schizophrenia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS MONDO:0013500 MONDO:0015279 False immunodeficiency 51 chronic mucocutaneous candidiasis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS MONDO:0013501 MONDO:0030923 False frontotemporal dementia and/or amyotrophic lateral sclerosis 6 frontotemporal dementia and/or amyotrophic lateral sclerosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING -MONDO:0013505 MONDO:0015746 False spermatogenic failure 9 male infertility due to globozoospermia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0013506 MONDO:0001384 False schizophrenia 16 myopia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS -MONDO:0013506 MONDO:0005090 False schizophrenia 16 schizophrenia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS MONDO:0013511 MONDO:0003847 False cyanosis, transient neonatal hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013514 MONDO:0019575 False hypotrichosis 3 hypotrichosis simplex of the scalp UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013515 MONDO:0800064 False osteogenesis imperfecta type 6 osteogenesis imperfecta and a reduction of bone mineral density. UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013517 MONDO:0019402 False beta-thalassemia HBB/LCRB beta thalassemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013519 MONDO:0006025 False dyskeratosis congenita, autosomal recessive 2 autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0013520 MONDO:0006025 False dyskeratosis congenita, autosomal recessive 3 autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0013521 MONDO:0000426 False dyskeratosis congenita, autosomal dominant 2 autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0013522 MONDO:0000426 False dyskeratosis congenita, autosomal dominant 3 autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0013523 MONDO:0006025 False Nestor-Guillermo progeria syndrome autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0013523 MONDO:0019707 False Nestor-Guillermo progeria syndrome primary osteolysis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013527 MONDO:0015204 False lissencephaly 4 microlissencephaly UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0013527 MONDO:0700116 False lissencephaly 4 microcephaly with lissencephaly and/or hydranencephaly UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013531 MONDO:0018162 False PSPH deficiency neurometabolic disorder due to serine deficiency UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013532 MONDO:0003847 False protein Z deficiency hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013533 MONDO:0001336 False hyperlipidemia due to hepatic triglyceride lipase deficiency familial hyperlipidemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013533 MONDO:0015903 False hyperlipidemia due to hepatic triglyceride lipase deficiency hyperalphalipoproteinemia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013534 MONDO:0019052 False apolipoprotein c-III deficiency inborn errors of metabolism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0013535 MONDO:0003847 False hydroxyacyl glutathione hydrolase deficiency hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013536 MONDO:0017754 False heme oxygenase 1 deficiency inborn disorder of porphyrin metabolism UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013539 MONDO:0019052 False hypotonia-failure to thrive-microcephaly syndrome inborn errors of metabolism UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013540 MONDO:0002254 False deafness-lymphedema-leukemia syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013540 MONDO:0005570 False deafness-lymphedema-leukemia syndrome hematologic disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013540 MONDO:0019313 False deafness-lymphedema-leukemia syndrome lymphatic malformation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0013540 MONDO:0042982 False deafness-lymphedema-leukemia syndrome GATA2 deficiency with susceptibility to MDS/AML UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013543 MONDO:0003847 False trypsinogen deficiency hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -22664,52 +26186,36 @@ MONDO:0013546 MONDO:0000066 False mitochondrial complex V (ATP synthase) deficie MONDO:0013547 MONDO:0000066 False mitochondrial complex V (ATP synthase) deficiency nuclear type 3 mitochondrial complex deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013548 MONDO:0003847 False acetyl-CoA acetyltransferase-2 deficiency hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013549 MONDO:0003847 False N-acetylaspartate deficiency hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013550 MONDO:0016108 False distal myopathy with posterior leg and anterior hand involvement autosomal dominant distal myopathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013554 MONDO:0100171 False psoriasis 13, susceptibility to psoriasis, susceptibility to UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013555 MONDO:0016502 False Hermansky-Pudlak syndrome 3 Hermansky-Pudlak syndrome without pulmonary fibrosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013556 MONDO:0016501 False Hermansky-Pudlak syndrome 4 Hermansky-Pudlak syndrome with pulmonary fibrosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013557 MONDO:0016502 False Hermansky-Pudlak syndrome 5 Hermansky-Pudlak syndrome without pulmonary fibrosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013558 MONDO:0016502 False Hermansky-Pudlak syndrome 6 Hermansky-Pudlak syndrome without pulmonary fibrosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013561 MONDO:0000226 False chondrodysplasia with joint dislocations, gPAPP type mineral metabolism disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013561 MONDO:0002081 False chondrodysplasia with joint dislocations, gPAPP type musculoskeletal system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0013561 MONDO:0019052 False chondrodysplasia with joint dislocations, gPAPP type inborn errors of metabolism UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0013562 MONDO:0015979 False aspergillosis, susceptibility to hereditary predisposition to infections UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013563 MONDO:0015327 False multiple congenital anomalies-hypotonia-seizures syndrome 1 developmental anomaly of metabolic origin UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013563 MONDO:0017748 False multiple congenital anomalies-hypotonia-seizures syndrome 1 inborn disorder of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013564 MONDO:0003847 False anhaptoglobinemia hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013568 MONDO:0020573 False sick sinus syndrome 3, susceptibility to inherited disease susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013571 MONDO:0100306 False acatalasia disorder of defective peroxisome oxidative status UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013572 MONDO:0020087 False Keppen-Lubinsky syndrome hereditary lipodystrophy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013574 MONDO:0019755 False cutis laxa - Marfanoid syndrome developmental defect during embryogenesis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013575 MONDO:0003847 False plasma fibronectin deficiency hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013576 MONDO:0003778 False recurrent infections associated with rare immunoglobulin isotypes deficiency inborn error of immunity UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013577 MONDO:0019296 False Lipedema subcutaneous tissue disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013578 MONDO:0000508 False DYRK1A-related intellectual disability syndrome syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0013578 MONDO:0002320 False DYRK1A-related intellectual disability syndrome congenital nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0013578 MONDO:0015159 False DYRK1A-related intellectual disability syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013579 MONDO:0000688 False methylmalonate semialdehyde dehydrogenase deficiency inborn organic aciduria UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013579 MONDO:0019242 False methylmalonate semialdehyde dehydrogenase deficiency inborn disorder of branched-chain amino acid metabolism UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013583 MONDO:0003847 False occipital pachygyria and polymicrogyria hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013583 MONDO:0005560 False occipital pachygyria and polymicrogyria brain disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013584 MONDO:0003406 False hereditary sensory neuropathy-deafness-dementia syndrome sleep-wake disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0013584 MONDO:0015547 False hereditary sensory neuropathy-deafness-dementia syndrome hereditary dementia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013584 MONDO:0018213 False hereditary sensory neuropathy-deafness-dementia syndrome hereditary sensory and autonomic neuropathy type 1 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0013584 MONDO:0024237 False hereditary sensory neuropathy-deafness-dementia syndrome inherited neurodegenerative disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013585 MONDO:0800463 False hydrolethalus syndrome 2 KIF7-related ciliopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013587 MONDO:0016527 False glycogen storage disease due to lactate dehydrogenase H-subunit deficiency glycogen storage disease due to lactate dehydrogenase deficiency UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013587 MONDO:0017688 False glycogen storage disease due to lactate dehydrogenase H-subunit deficiency disorder of glycolysis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013591 MONDO:0015627 False epiphyseal dysplasia, multiple, 6 multiple epiphyseal dysplasia due to collagen 9 anomaly UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0013592 MONDO:0019577 False nonsyndromic congenital nail disorder 9 anonychia-onychodystrophy syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013594 MONDO:0019792 False spinocerebellar ataxia type 36 autosomal dominant cerebellar ataxia type I UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013595 MONDO:0003847 False hyperbiliverdinemia hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013595 MONDO:0005154 False hyperbiliverdinemia liver disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013597 MONDO:0021181 False platelet-type bleeding disorder 14 inherited blood coagulation disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013598 MONDO:0003847 False myostatin-related muscle hypertrophy hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0013598 MONDO:0003939 False myostatin-related muscle hypertrophy muscle tissue disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0013599 MONDO:0000569 False autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome autoimmune disorder of endocrine system UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0013599 MONDO:0015126 False autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome polyendocrinopathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013599 MONDO:0019787 False autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome autoimmune enteropathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013600 MONDO:0005560 False insomnia brain disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0013600 MONDO:0100081 False insomnia sleep disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013601 MONDO:0019052 False gluthathione peroxidase deficiency inborn errors of metabolism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013601 MONDO:0024626 False gluthathione peroxidase deficiency defective phagocytic cell engulfment UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013602 MONDO:0002714 False paragangliomas 5 central nervous system cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -22721,18 +26227,14 @@ MONDO:0013606 MONDO:0015541 False Hermansky-Pudlak syndrome 9 hereditary hemopha MONDO:0013607 MONDO:0042982 False monocytopenia with susceptibility to infections GATA2 deficiency with susceptibility to MDS/AML UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013611 MONDO:0700229 False retinitis pigmentosa 62 MAK-related retinopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013614 MONDO:0003847 False hypertelorism-preauricular sinus-punctual pits-deafness syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013615 MONDO:0015338 False craniosynostosis and dental anomalies syndromic craniosynostosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013618 MONDO:0003847 False craniofacial anomalies and anterior segment dysgenesis syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013619 MONDO:0019006 False nephrotic syndrome, type 6 familial idiopathic steroid-resistant nephrotic syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013620 MONDO:0020344 False congenital myasthenic syndrome 16 postsynaptic congenital myasthenic syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013620 MONDO:0100121 False congenital myasthenic syndrome 16 SCN4A-related myopathy, autosomal recessive UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013625 MONDO:0008199 False Parkinson disease 17 late-onset Parkinson disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS -MONDO:0013626 MONDO:0019268 False psoriasis 14, pustular epidermal disease UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013626 MONDO:0023603 False psoriasis 14, pustular hereditary disorder of connective tissue UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013627 MONDO:0800063 False 3M syndrome 3 primordial dwarfism and slender bone disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013631 MONDO:0015356 False lung cancer susceptibility 5 hereditary neoplastic syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013633 MONDO:0800174 False encephalopathy, acute, infection-induced, susceptibility to, 4 encephalitis, acute, infection-induced, susceptibility to UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013634 MONDO:0019941 False neuropathy, hereditary sensory, type 2C hereditary sensory and autonomic neuropathy type 2 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0013634 MONDO:0700055 False neuropathy, hereditary sensory, type 2C KIF1A related neurological disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013635 MONDO:0019713 False Adams-Oliver syndrome 2 non-syndromic limb reduction defect UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013639 MONDO:0100049 False narcolepsy 6, susceptibility to narcolepsy, susceptibility to UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -22740,11 +26242,6 @@ MONDO:0013640 MONDO:0002311 False familial retinal arterial macroaneurysm retina MONDO:0013640 MONDO:0003847 False familial retinal arterial macroaneurysm hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013640 MONDO:0005267 False familial retinal arterial macroaneurysm heart disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013643 MONDO:0000608 False hyperuricemic nephropathy, familial juvenile type 3 familial juvenile hyperuricemic nephropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING -MONDO:0013644 MONDO:0018993 False Charcot-Marie-Tooth disease axonal type 2O Charcot-Marie-Tooth disease type 2 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0013645 MONDO:0020047 False autosomal recessive spinocerebellar ataxia 11 autosomal recessive syndromic cerebellar ataxia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013646 MONDO:0015159 False chromosome 8q21.11 deletion syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013646 MONDO:0016907 False chromosome 8q21.11 deletion syndrome partial deletion of the long arm of chromosome 8 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013648 MONDO:0019289 False familial progressive hyperpigmentation hyperpigmentation of the skin UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013649 MONDO:0018914 False hypotrichosis 9 hypotrichosis simplex UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013650 MONDO:0018914 False hypotrichosis 10 hypotrichosis simplex UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013652 MONDO:0016158 False narcolepsy 7 narcolepsy-cataplexy syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -22756,16 +26253,13 @@ MONDO:0013659 MONDO:0002254 False microcephaly-capillary malformation syndrome s MONDO:0013659 MONDO:0003847 False microcephaly-capillary malformation syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013660 MONDO:0003847 False arthrogryposis, Perthes disease, and upward gaze palsy hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013661 MONDO:0002012 False combined malonic and methylmalonic acidemia methylmalonic acidemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0013661 MONDO:0019215 False combined malonic and methylmalonic acidemia classic organic aciduria UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013663 MONDO:0003847 False platelet-activating factor acetylhydrolase deficiency hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013665 MONDO:0020573 False epilepsy, juvenile myoclonic, susceptibility to, 9 inherited disease susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013668 MONDO:0003847 False tetrasomy 18p hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013668 MONDO:0016951 False tetrasomy 18p partial trisomy/tetrasomy of the short arm of chromosome 18 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013670 MONDO:0001384 False myopia, high, with cataract and vitreoretinal degeneration myopia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0013671 MONDO:0016785 False hydatidiform mole, recurrent, 2 complete hydatidiform mole UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013671 MONDO:0018944 False hydatidiform mole, recurrent, 2 gestational trophoblastic neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013672 MONDO:0016913 False chromosome 15q25 deletion syndrome partial deletion of the long arm of chromosome 15 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013673 MONDO:0003847 False Wolfram-like syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0013673 MONDO:0005151 False Wolfram-like syndrome endocrine system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0013677 MONDO:0020336 False Emery-Dreifuss muscular dystrophy 7, autosomal dominant autosomal dominant Emery-Dreifuss muscular dystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013678 MONDO:0002254 False EDICT syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -22773,25 +26267,14 @@ MONDO:0013678 MONDO:0003847 False EDICT syndrome hereditary disease UNSUPPORTED- MONDO:0013680 MONDO:0003847 False cognitive impairment with or without cerebellar ataxia hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013681 MONDO:0019233 False alpha-methylacyl-CoA racemase deficiency disorder of peroxisomal beta oxidation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013685 MONDO:0015356 False pancreatic cancer, susceptibility to, 4 hereditary neoplastic syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013686 MONDO:0016108 False distal myopathy, Tateyama type autosomal dominant distal myopathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013687 MONDO:0018446 False autosomal recessive spinocerebellar ataxia 12 autosomal recessive cerebellar ataxia - epilepsy - intellectual disability syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0013688 MONDO:0006499 False linear and whorled nevoid hypermelanosis hamartoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013688 MONDO:0011500 False linear and whorled nevoid hypermelanosis Becker nevus syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING -MONDO:0013688 MONDO:0019289 False linear and whorled nevoid hypermelanosis hyperpigmentation of the skin UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013690 MONDO:0003847 False Pitt-Hopkins-like syndrome 2 hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0013690 MONDO:0016377 False Pitt-Hopkins-like syndrome 2 Pitt-Hopkins-like syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013692 MONDO:0015356 False BAP1-related tumor predisposition syndrome hereditary neoplastic syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013695 MONDO:0000426 False colorectal cancer, hereditary nonpolyposis, type 6 autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0013696 MONDO:0003847 False chromosome 2p16.3 deletion syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013696 MONDO:0005090 False chromosome 2p16.3 deletion syndrome schizophrenia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0013696 MONDO:0016884 False chromosome 2p16.3 deletion syndrome partial deletion of the short arm of chromosome 2 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013698 MONDO:0015240 False arthrogryposis, distal, type 1B digitotalar dysmorphism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0013699 MONDO:0000426 False Lynch syndrome 4 autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0013700 MONDO:0002356 False pancreatic triacylglycerol lipase deficiency pancreas disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013700 MONDO:0002525 False pancreatic triacylglycerol lipase deficiency inherited lipid metabolism disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013705 MONDO:0019502 False intellectual disability, autosomal recessive 19 autosomal recessive non-syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING -MONDO:0013710 MONDO:0000426 False Lynch syndrome 5 autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0013711 MONDO:0015362 False peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome neuronopathy, distal hereditary motor, autosomal dominant UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING -MONDO:0013711 MONDO:0016108 False peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome autosomal dominant distal myopathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013713 MONDO:0015979 False dengue virus, susceptibility to hereditary predisposition to infections UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013715 MONDO:0017593 False amyotrophic lateral sclerosis type 16 juvenile amyotrophic lateral sclerosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013720 MONDO:0000015 False complement component 4b deficiency classic complement early component deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -22801,21 +26284,14 @@ MONDO:0013721 MONDO:0015699 False complement component 4a deficiency immunodefic MONDO:0013722 MONDO:0002254 False hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0013722 MONDO:0005039 False hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism reproductive system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0013722 MONDO:0005151 False hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism endocrine system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0013722 MONDO:0020022 False hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism central nervous system malformation UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013723 MONDO:0000108 False bacteremia, susceptibility to, 1 bacteremia, susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013724 MONDO:0000108 False bacteremia, susceptibility to, 2 bacteremia, susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013725 MONDO:0000426 False colorectal cancer, hereditary nonpolyposis, type 7 autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0013726 MONDO:0100198 False encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1 Mendelian encephalopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013727 MONDO:0000144 False pregnancy loss, recurrent, susceptibility to, 1 pregnancy loss, recurrent, susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013728 MONDO:0000144 False pregnancy loss, recurrent, susceptibility to, 2 pregnancy loss, recurrent, susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013729 MONDO:0000144 False pregnancy loss, recurrent, susceptibility to, 3 pregnancy loss, recurrent, susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013730 MONDO:0005046 False graft versus host disease immune system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0013730 MONDO:0700222 False graft versus host disease disease related to hematopoietic stem cell transplant UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013731 MONDO:0019952 False MEGF10-related myopathy congenital myopathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS MONDO:0013732 MONDO:0003847 False glucocorticoid therapy, response to hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013735 MONDO:0015159 False microcephaly-cerebellar hypoplasia-cardiac conduction defect syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013737 MONDO:0015150 False hereditary spastic paraplegia 46 complex hereditary spastic paraplegia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013740 MONDO:0015338 False lethal occipital encephalocele-skeletal dysplasia syndrome syndromic craniosynostosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013743 MONDO:0007915 False autosomal systemic lupus erythematosus type 16 systemic lupus erythematosus UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0013743 MONDO:0023603 False autosomal systemic lupus erythematosus type 16 hereditary disorder of connective tissue UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013744 MONDO:0020374 False cataract 37 cerulean cataract UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -22823,64 +26299,37 @@ MONDO:0013745 MONDO:0009480 False Joubert syndrome 14 Joubert syndrome with ocul MONDO:0013745 MONDO:0016364 False Joubert syndrome 14 Joubert syndrome with ocular defect UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013746 MONDO:0100009 False ventricular septal defect 1 structural congenital heart disease, multiple types - GATA4 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013747 MONDO:0100009 False atrioventricular septal defect 4 structural congenital heart disease, multiple types - GATA4 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013751 MONDO:0019571 False cutis laxa, autosomal dominant 2 autosomal dominant cutis laxa UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0013753 MONDO:0018993 False Charcot-Marie-Tooth disease axonal type 2P Charcot-Marie-Tooth disease type 2 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0013754 MONDO:0019572 False cutis laxa, autosomal recessive, type 1B autosomal recessive cutis laxa type 1 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0013755 MONDO:0017569 False PYCR1-related de Barsy syndrome de Barsy syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0013757 MONDO:0019995 False congenital nongoitrous hypothryoidism 6 peripheral resistance to thyroid hormones UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013758 MONDO:0019548 False Charcot-Marie-Tooth disease dominant intermediate E autosomal dominant intermediate Charcot-Marie-Tooth disease UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013760 MONDO:0015905 False congenital ichthyosis-intellectual disability-spastic quadriplegia syndrome syndromic dyslipidemia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013760 MONDO:0018117 False congenital ichthyosis-intellectual disability-spastic quadriplegia syndrome disorder of phospholipids, sphingolipids and fatty acids biosynthesis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013762 MONDO:0018424 False lipoic acid synthetase deficiency inherited lipoic acid biosynthesis defect UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013763 MONDO:0016364 False Joubert syndrome 15 Joubert syndrome with ocular defect UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013764 MONDO:0009480 False Joubert syndrome 16 Joubert syndrome with oculorenal defect UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0013765 MONDO:0020573 False coronary heart disease, susceptibility to, 6 inherited disease susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013767 MONDO:0017979 False autoimmune lymphoproliferative syndrome type 4 autoimmune lymphoproliferative syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0013771 MONDO:0003847 False transient infantile hypertriglyceridemia and hepatosteatosis hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013771 MONDO:0005154 False transient infantile hypertriglyceridemia and hepatosteatosis liver disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013772 MONDO:0003847 False Huppke-Brendel syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013775 MONDO:0002242 False thrombomodulin-related bleeding disorder coagulation protein disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013775 MONDO:0002243 False thrombomodulin-related bleeding disorder hemorrhagic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0013776 MONDO:0017847 False spastic ataxia 5 autosomal recessive spastic ataxia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013776 MONDO:0018158 False spastic ataxia 5 mitochondrial DNA depletion syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS +MONDO:0013779 MONDO:0021094 False Wiskott-Aldrich syndrome 2 immunodeficiency disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0013784 MONDO:0100062 False neonatal-onset encephalopathy with rigidity and seizures developmental and epileptic encephalopathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0013787 MONDO:0003847 False psychomotor retardation, epilepsy, and craniofacial dysmorphism hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013788 MONDO:0016485 False Usher syndrome type 3B Usher syndrome type 3 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0013789 MONDO:0017740 False DDOST-congenital disorder of glycosylation disorder of protein N-glycosylation UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013791 MONDO:0019144 False thrombophilia due to protein S deficiency, autosomal recessive hereditary thrombophilia due to congenital protein S deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013792 MONDO:0011057 False intracerebral hemorrhage cerebrovascular disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013793 MONDO:0003847 False encephalomyopathy, mitochondrial, due to voltage-dependent anion channel deficiency hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013796 MONDO:0016967 False chromosome 17q12 duplication syndrome partial duplication of the long arm of chromosome 17 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013797 MONDO:0016915 False chromosome 17q12 deletion syndrome partial deletion of the long arm of chromosome 17 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013798 MONDO:0016914 False chromosome 16q22 deletion syndrome partial deletion of the long arm of chromosome 16 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013801 MONDO:0018614 False developmental and epileptic encephalopathy, 13 undetermined early-onset epileptic encephalopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013801 MONDO:0100455 False developmental and epileptic encephalopathy, 13 neonatal-onset developmental and epileptic encephalopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013802 MONDO:0004884 False infantile cerebellar-retinal degeneration eye degenerative disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0013802 MONDO:0016790 False infantile cerebellar-retinal degeneration tricarboxylic acid cycle disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013802 MONDO:0019118 False infantile cerebellar-retinal degeneration inherited retinal dystrophy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0013802 MONDO:0024237 False infantile cerebellar-retinal degeneration inherited neurodegenerative disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013803 MONDO:0006025 False leukoencephalopathy with calcifications and cysts autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013806 MONDO:0015356 False familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome hereditary neoplastic syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013806 MONDO:0019293 False familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome skin vascular disease UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0013805 MONDO:0100172 False intellectual disability, autosomal dominant 13 intellectual disability, autosomal dominant UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0013806 MONDO:0100118 False familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome hereditary skin disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013807 MONDO:0800396 False congenital stationary night blindness 1E GPR179-related retinopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013808 MONDO:0002531 False Maffucci syndrome skin neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0013808 MONDO:0015356 False Maffucci syndrome hereditary neoplastic syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013808 MONDO:0019293 False Maffucci syndrome skin vascular disease UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0013808 MONDO:0019716 False Maffucci syndrome overgrowth syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013808 MONDO:0019755 False Maffucci syndrome developmental defect during embryogenesis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013808 MONDO:0023603 False Maffucci syndrome hereditary disorder of connective tissue UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013808 MONDO:0024499 False Maffucci syndrome vascular bone neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013808 MONDO:0100118 False Maffucci syndrome hereditary skin disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013810 MONDO:0017750 False COG6-ongenital disorder of glycosylation defect in conserved oligomeric Golgi complex UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013813 MONDO:0000476 False dystonia 21 generalized dystonia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0013814 MONDO:0020573 False podoconiosis, susceptibility to inherited disease susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013815 MONDO:0031615 False bent bone dysplasia syndrome 1 familial bent bone dysplasia syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING -MONDO:0013819 MONDO:0000426 False intellectual disability, autosomal dominant 14 autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0013819 MONDO:0700120 False intellectual disability, autosomal dominant 14 BAFopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013820 MONDO:0000426 False intellectual disability, autosomal dominant 15 autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0013820 MONDO:0700120 False intellectual disability, autosomal dominant 15 BAFopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013821 MONDO:0000426 False intellectual disability, autosomal dominant 16 autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0013821 MONDO:0700120 False intellectual disability, autosomal dominant 16 BAFopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013825 MONDO:0021189 False congenital diarrhea 6 intestinal motility disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013835 MONDO:0100530 False muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7 myopathy caused by variation in CRPPA UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -22889,42 +26338,27 @@ MONDO:0013843 MONDO:0003847 False intestinal obstruction in the newborn due to g MONDO:0013843 MONDO:0021189 False intestinal obstruction in the newborn due to guanylate cyclase 2C deficiency intestinal motility disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013843 MONDO:0054868 False intestinal obstruction in the newborn due to guanylate cyclase 2C deficiency meconium ileus UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013846 MONDO:0020573 False peripartum cardiomyopathy, susceptibility to inherited disease susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013847 MONDO:0016949 False chromosome 16p11.2 duplication syndrome partial duplication of the short arm of chromosome 16 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013851 MONDO:0001713 False autosomal dominant aplasia and myelodysplasia inherited aplastic anemia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013853 MONDO:0016396 False pontocerebellar hypoplasia type 1B pontocerebellar hypoplasia type 1 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0013855 MONDO:0015979 False influenza, severe, susceptibility to hereditary predisposition to infections UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013856 MONDO:0003847 False hypertelorism and other facial dysmorphism, brachydactyly, genital abnormalities, intellectual disability, and recurrent inflammatory episodes hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013857 MONDO:0003847 False alar cleft, isolated hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013858 MONDO:0020022 False pontine tegmental cap dysplasia central nervous system malformation UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013859 MONDO:0011060 False cataract 38 early-onset non-syndromic cataract UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0013860 MONDO:0005334 False idiopathic membranous glomerulonephritis hereditary nephritis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0013860 MONDO:0005376 False idiopathic membranous glomerulonephritis membranous glomerulonephritis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013860 MONDO:0700007 False idiopathic membranous glomerulonephritis idiopathic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013864 MONDO:0019713 False Cornelia de Lange syndrome 4 non-syndromic limb reduction defect UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013866 MONDO:0019260 False neuronal ceroid lipofuscinosis 11 adult neuronal ceroid lipofuscinosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013868 MONDO:0019212 False porokeratosis 7, multiple types disseminated superficial actinic porokeratosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013869 MONDO:0004736 False adenine phosphoribosyltransferase deficiency inborn disorder of amino acid metabolism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0013869 MONDO:0019236 False adenine phosphoribosyltransferase deficiency inborn disorder of purine metabolism UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013870 MONDO:0016761 False TMEM165-congenital disorder of glycosylation spondyloepiphyseal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0013870 MONDO:0017740 False TMEM165-congenital disorder of glycosylation disorder of protein N-glycosylation UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013872 MONDO:0023122 False prostate cancer, hereditary, 2 familial prostate carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0013873 MONDO:0800063 False IMAGe syndrome primordial dwarfism and slender bone disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013875 MONDO:0004069 False 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome inborn mitochondrial metabolism disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0013875 MONDO:0018117 False 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome disorder of phospholipids, sphingolipids and fatty acids biosynthesis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013876 MONDO:0015356 False basal cell carcinoma, susceptibility to, 7 hereditary neoplastic syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013876 MONDO:0100047 False basal cell carcinoma, susceptibility to, 7 basal cell carcinoma, susceptibility to UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013877 MONDO:0004069 False mitochondrial pyruvate carrier deficiency inborn mitochondrial metabolism disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0013877 MONDO:0006025 False mitochondrial pyruvate carrier deficiency autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0013877 MONDO:0016789 False mitochondrial pyruvate carrier deficiency pyruvate metabolism disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013880 MONDO:0003847 False facial paresis, hereditary congenital, 3 hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013880 MONDO:0017627 False facial paresis, hereditary congenital, 3 congenital hereditary facial paralysis-variable hearing loss syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013884 MONDO:0100350 False neuronopathy, distal hereditary motor, type 5B neuronopathy, distal hereditary motor, type 5 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0013885 MONDO:0003847 False Malan overgrowth syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0013885 MONDO:0015160 False Malan overgrowth syndrome multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013885 MONDO:0019716 False Malan overgrowth syndrome overgrowth syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013886 MONDO:0019792 False cerebellar dysfunction with variable cognitive and behavioral abnormalities autosomal dominant cerebellar ataxia type I UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013889 MONDO:0800064 False short stature-optic atrophy-Pelger-HuC+t anomaly syndrome osteogenesis imperfecta and a reduction of bone mineral density. UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013892 MONDO:0005334 False C3 glomerulonephritis hereditary nephritis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013892 MONDO:0018013 False C3 glomerulonephritis non-immunoglobulin-mediated membranoproliferative glomerulonephritis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013894 MONDO:0002254 False short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013894 MONDO:0800063 False short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome primordial dwarfism and slender bone disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013895 MONDO:0019713 False Adams-Oliver syndrome 3 non-syndromic limb reduction defect UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -22932,9 +26366,7 @@ MONDO:0013898 MONDO:0005334 False karyomegalic interstitial nephritis hereditary MONDO:0013899 MONDO:0100236 False Weill-Marchesani syndrome 3 LTBP2-related ocular dysgenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013900 MONDO:0700002 False alternating hemiplegia of childhood 2 ATP1A3-associated neurological disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013904 MONDO:0700075 False muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 congenital muscular dystrophy caused by variation in POMGNT2 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013905 MONDO:0018189 False autosomal recessive spinocerebellar ataxia 13 autosomal recessive cerebellar ataxia - pyramidal signs - nystagmus - oculomotor apraxia syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013906 MONDO:0015048 False amelogenesis imperfecta hypomaturation type 2A4 amelogenesis imperfecta type 2 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013907 MONDO:0017091 False bilateral generalized polymicrogyria bilateral polymicrogyria UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013907 MONDO:0018764 False bilateral generalized polymicrogyria microcephalic primordial dwarfism due to RTTN deficiency UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013908 MONDO:0020573 False thyrotoxic periodic paralysis, susceptibility to, 3 inherited disease susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013909 MONDO:0015979 False human herpesvirus 8, susceptibility to hereditary predisposition to infections UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -22942,20 +26374,15 @@ MONDO:0013910 MONDO:0018800 False hypogonadotropic hypogonadism 8 with or withou MONDO:0013911 MONDO:0018800 False hypogonadotropic hypogonadism 9 with or without anosmia Kallmann syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0013913 MONDO:0018800 False hypogonadotropic hypogonadism 11 with or without anosmia Kallmann syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0013917 MONDO:0017842 False nephronophthisis 15 Senior-Loken syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS -MONDO:0013918 MONDO:0017806 False distal tetrasomy 15q 15q overgrowth syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013919 MONDO:0020573 False epilepsy, idiopathic generalized, susceptibility to, 12 inherited disease susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013920 MONDO:0015979 False herpes simplex encephalitis, susceptibility to, 3 hereditary predisposition to infections UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013921 MONDO:0015979 False herpes simplex encephalitis, susceptibility to, 4 hereditary predisposition to infections UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013926 MONDO:0018800 False hypogonadotropic hypogonadism 14 with or without anosmia Kallmann syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0013927 MONDO:0100266 False peroxisome biogenesis disorder 3A (Zellweger) peroxisome biogenesis disorder due to PEX12 defect UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013928 MONDO:0000477 False dystonia 23 focal dystonia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0013928 MONDO:0015990 False dystonia 23 focal, segmental or multifocal dystonia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013930 MONDO:0100263 False peroxisome biogenesis disorder 4A (Zellweger) peroxisome biogenesis disorder due to PEX6 defect UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013931 MONDO:0100263 False peroxisome biogenesis disorder 4B peroxisome biogenesis disorder due to PEX6 defect UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013932 MONDO:0100260 False peroxisome biogenesis disorder 5A (Zellweger) peroxisome biogenesis disorder due to PEX2 defect UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013933 MONDO:0100260 False peroxisome biogenesis disorder 5B peroxisome biogenesis disorder due to PEX2 defect UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013934 MONDO:0015131 False combined immunodeficiency due to STK4 deficiency combined immunodeficiency UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013935 MONDO:0010168 False Usher syndrome type 1J Usher syndrome type 1 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0013936 MONDO:0100264 False peroxisome biogenesis disorder 6A (Zellweger) peroxisome biogenesis disorder due to PEX10 defect UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013937 MONDO:0100264 False peroxisome biogenesis disorder 6B peroxisome biogenesis disorder due to PEX10 defect UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013938 MONDO:0100271 False peroxisome biogenesis disorder 7A (Zellweger) peroxisome biogenesis disorder due to PEX26 defect UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -22964,36 +26391,18 @@ MONDO:0013941 MONDO:0003847 False metaphyseal chondromatosis with D-2-hydroxyglu MONDO:0013941 MONDO:0005172 False metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria skeletal system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013942 MONDO:0100269 False peroxisome biogenesis disorder 8A (Zellweger) peroxisome biogenesis disorder due to PEX16 defect UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013943 MONDO:0100269 False peroxisome biogenesis disorder 8B peroxisome biogenesis disorder due to PEX16 defect UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013944 MONDO:0019751 False autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation autoinflammatory syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013944 MONDO:0023603 False autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation hereditary disorder of connective tissue UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013945 MONDO:0019609 False peroxisome biogenesis disorder 9B Zellweger spectrum disorders UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013946 MONDO:0018800 False hypogonadotropic hypogonadism 15 with or without anosmia Kallmann syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0013947 MONDO:0001516 False neuronopathy, distal hereditary motor, autosomal recessive 5 spinal muscular atrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0013947 MONDO:0015363 False neuronopathy, distal hereditary motor, autosomal recessive 5 neuronopathy, distal hereditary motor, autosomal recessive UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS MONDO:0013948 MONDO:0100261 False peroxisome biogenesis disorder 10A (Zellweger) peroxisome biogenesis disorder due to PEX3 defect UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013949 MONDO:0100267 False peroxisome biogenesis disorder 11A (Zellweger) peroxisome biogenesis disorder due to PEX13 defect UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013950 MONDO:0100267 False peroxisome biogenesis disorder 11B peroxisome biogenesis disorder due to PEX13 defect UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013951 MONDO:0100270 False peroxisome biogenesis disorder 12A (Zellweger) peroxisome biogenesis disorder due to PEX19 defect UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013952 MONDO:0100268 False peroxisome biogenesis disorder 13A (Zellweger) peroxisome biogenesis disorder due to PEX14 defect UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013953 MONDO:0003778 False immunodeficiency 28 inborn error of immunity UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0013954 MONDO:0019146 False Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency inherited susceptibility to mycobacterial diseases UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013955 MONDO:0019146 False Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency inherited susceptibility to mycobacterial diseases UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013956 MONDO:0019146 False Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency inherited susceptibility to mycobacterial diseases UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013957 MONDO:0019146 False Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency inherited susceptibility to mycobacterial diseases UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013959 MONDO:0018995 False Charcot-Marie-Tooth disease type 4F Charcot-Marie-Tooth disease type 4 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0013960 MONDO:0003847 False sinoatrial node dysfunction and deafness hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013960 MONDO:0007263 False sinoatrial node dysfunction and deafness cardiac rhythm disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013961 MONDO:0018800 False hypogonadotropic hypogonadism 16 with or without anosmia Kallmann syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0013962 MONDO:0015150 False hereditary spastic paraplegia 53 complex hereditary spastic paraplegia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013967 MONDO:0100279 False peroxisome biogenesis disorder 14B peroxisome biogenesis disorder due to PEX11B defect UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013968 MONDO:0016333 False PGM1-congenital disorder of glycosylation familial dilated cardiomyopathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING -MONDO:0013968 MONDO:0017740 False PGM1-congenital disorder of glycosylation disorder of protein N-glycosylation UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013970 MONDO:0006025 False branched-chain keto acid dehydrogenase kinase deficiency autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0013970 MONDO:0019242 False branched-chain keto acid dehydrogenase kinase deficiency inborn disorder of branched-chain amino acid metabolism UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013971 MONDO:0019046 False leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome leukodystrophy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS -MONDO:0013974 MONDO:0019071 False ectodermal dysplasia 6, hair/nail type pure hair and nail ectodermal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0013975 MONDO:0019071 False ectodermal dysplasia 7, hair/nail type pure hair and nail ectodermal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0013976 MONDO:0019071 False ectodermal dysplasia 9, hair/nail type pure hair and nail ectodermal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0013980 MONDO:0019332 False palmoplantar keratoderma, punctate type ib punctate palmoplantar keratoderma type 1 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013981 MONDO:0003847 False myoclonus, familial hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013981 MONDO:0005395 False myoclonus, familial movement disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -23001,94 +26410,54 @@ MONDO:0013982 MONDO:0015884 False ectodermal dysplasia 11A, hypohidrotic/hair/to MONDO:0013983 MONDO:0016619 False ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessive autosomal recessive hypohidrotic ectodermal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013988 MONDO:0000119 False congenital heart defects, multiple types, 3 congenital heart defects, multiple types UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013988 MONDO:0003847 False congenital heart defects, multiple types, 3 hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013991 MONDO:0015770 False obesity due to congenital leptin deficiency congenital hypogonadotropic hypogonadism UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013991 MONDO:0019182 False obesity due to congenital leptin deficiency inherited obesity UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING -MONDO:0013992 MONDO:0015770 False obesity due to leptin receptor gene deficiency congenital hypogonadotropic hypogonadism UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013992 MONDO:0019182 False obesity due to leptin receptor gene deficiency inherited obesity UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0013994 MONDO:0016364 False Joubert syndrome 20 Joubert syndrome with ocular defect UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013995 MONDO:0017290 False cholestasis, intrahepatic, of pregnancy, 3 familial intrahepatic cholestasis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013995 MONDO:0100429 False cholestasis, intrahepatic, of pregnancy, 3 intrahepatic cholestasis of pregnancy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0013996 MONDO:0009203 False focal facial dermal dysplasia type II focal facial dermal dysplasia type III UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0013999 MONDO:0020249 False retinal dystrophy, optic nerve edema, splenomegaly, anhidrosis, and migraine headache syndrome hereditary optic neuropathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014000 MONDO:0000119 False congenital heart defects, multiple types, 2 congenital heart defects, multiple types UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014000 MONDO:0003847 False congenital heart defects, multiple types, 2 hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014000 MONDO:0019512 False congenital heart defects, multiple types, 2 congenital heart malformation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014001 MONDO:0010168 False Usher syndrome type 1K Usher syndrome type 1 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0014002 MONDO:0020300 False autosomal dominant nocturnal frontal lobe epilepsy 5 autosomal dominant nocturnal frontal lobe epilepsy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0014003 MONDO:0018097 False developmental and epileptic encephalopathy, 15 West syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0014004 MONDO:0700007 False basal ganglia calcification, idiopathic, 4 idiopathic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014005 MONDO:0005334 False immunoglobulin-mediated membranoproliferative glomerulonephritis hereditary nephritis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014005 MONDO:0018904 False immunoglobulin-mediated membranoproliferative glomerulonephritis primary membranoproliferative glomerulonephritis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014006 MONDO:0000508 False Schuurs-Hoeijmakers syndrome syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0014006 MONDO:0002320 False Schuurs-Hoeijmakers syndrome congenital nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0014006 MONDO:0015159 False Schuurs-Hoeijmakers syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014008 MONDO:0003847 False phosphohydroxylysinuria hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014009 MONDO:0019306 False autosomal recessive congenital ichthyosis 7 congenital non-bullous ichthyosiform erythroderma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014010 MONDO:0019306 False autosomal recessive congenital ichthyosis 9 congenital non-bullous ichthyosiform erythroderma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014011 MONDO:0019306 False autosomal recessive congenital ichthyosis 10 congenital non-bullous ichthyosiform erythroderma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014012 MONDO:0018993 False Charcot-Marie-Tooth disease axonal type 2Q Charcot-Marie-Tooth disease type 2 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0014013 MONDO:0004573 False maternal riboflavin deficiency ariboflavinosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014013 MONDO:0017757 False maternal riboflavin deficiency disorder of metabolite absorption and transport UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014016 MONDO:0015150 False hereditary spastic paraplegia 49 complex hereditary spastic paraplegia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014018 MONDO:0015150 False hereditary spastic paraplegia 54 complex hereditary spastic paraplegia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014019 MONDO:0015990 False dystonia 24 focal, segmental or multifocal dystonia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014020 MONDO:0015150 False hereditary spastic paraplegia 55 complex hereditary spastic paraplegia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014020 MONDO:0016387 False hereditary spastic paraplegia 55 mitochondrial oxidative phosphorylation disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014022 MONDO:0018939 False muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 10 muscle-eye-brain disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014023 MONDO:0017749 False congenital muscular dystrophy with intellectual disability and severe epilepsy disorder of multiple glycosylation UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014023 MONDO:0018276 False congenital muscular dystrophy with intellectual disability and severe epilepsy muscular dystrophy-dystroglycanopathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0014024 MONDO:0015150 False hereditary spastic paraplegia 43 complex hereditary spastic paraplegia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014025 MONDO:0019079 False lower motor neuron syndrome with late-adult onset proximal spinal muscular atrophy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014027 MONDO:0018914 False hypotrichosis 11 hypotrichosis simplex UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014029 MONDO:0800064 False osteogenesis imperfecta type 14 osteogenesis imperfecta and a reduction of bone mineral density. UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014031 MONDO:0002254 False microcephalic primordial dwarfism, Alazami type syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014031 MONDO:0800063 False microcephalic primordial dwarfism, Alazami type primordial dwarfism and slender bone disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014032 MONDO:0021004 False brachydactyly type A1C brachydactyly UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0014033 MONDO:0000478 False dystonia 25 multifocal dystonia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0014033 MONDO:0015990 False dystonia 25 focal, segmental or multifocal dystonia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014034 MONDO:0000508 False severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0014034 MONDO:0002320 False severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome congenital nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0014034 MONDO:0015159 False severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014035 MONDO:0000508 False severe intellectual disability-progressive spastic diplegia syndrome syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0014035 MONDO:0002320 False severe intellectual disability-progressive spastic diplegia syndrome congenital nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0014035 MONDO:0015159 False severe intellectual disability-progressive spastic diplegia syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014035 MONDO:0100172 False severe intellectual disability-progressive spastic diplegia syndrome intellectual disability, autosomal dominant UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING -MONDO:0014036 MONDO:0004975 False Alzheimer disease 17 Alzheimer disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0014038 MONDO:0015356 False colorectal cancer, susceptibility to, 12 hereditary neoplastic syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014043 MONDO:0018230 False microcephalic primordial dwarfism due to ZNF335 deficiency skeletal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014044 MONDO:0015160 False dysmorphism-conductive hearing loss-heart defect syndrome multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014050 MONDO:0016764 False isolated microphthalmia 8 isolated anophthalmia-microphthalmia syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014051 MONDO:0015487 False cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2 fatal infantile encephalocardiomyopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0014052 MONDO:0020344 False congenital myasthenic syndrome 8 postsynaptic congenital myasthenic syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014056 MONDO:0100242 False melanoma, cutaneous malignant, susceptibility to, 9 glioma susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0014058 MONDO:0003847 False facial dysmorphism-immunodeficiency-livedo-short stature syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014060 MONDO:0019118 False progressive retinal dystrophy due to retinol transport defect inherited retinal dystrophy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014061 MONDO:0016761 False Steel syndrome spondyloepiphyseal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014062 MONDO:0018158 False mitochondrial DNA deletion syndrome with progressive myopathy mitochondrial DNA depletion syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS -MONDO:0014067 MONDO:0015159 False short ulna-dysmorphism-hypotonia-intellectual disability syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014069 MONDO:0019054 False syndactyly-camptodactyly and clinodactyly of fifth fingers-bifid toes syndrome congenital limb malformation UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014071 MONDO:0018939 False muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11 muscle-eye-brain disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014072 MONDO:0016001 False D,L-2-hydroxyglutaric aciduria 2-hydroxyglutaric aciduria UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0014074 MONDO:0019548 False Charcot-Marie-Tooth disease dominant intermediate F autosomal dominant intermediate Charcot-Marie-Tooth disease UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014075 MONDO:0011060 False cataract 39 multiple types early-onset non-syndromic cataract UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING -MONDO:0014076 MONDO:0006025 False dyskeratosis congenita, autosomal recessive 5 autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0014076 MONDO:0800467 False dyskeratosis congenita, autosomal recessive 5 dyskeratosis congenita and related telomere biology disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014077 MONDO:0018869 False cobblestone lissencephaly without muscular or ocular involvement cobblestone lissencephaly UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014078 MONDO:0015372 False platelet-type bleeding disorder 15 autosomal dominant macrothrombocytopenia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014080 MONDO:0017198 False osteosclerotic metaphyseal dysplasia osteopetrosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0014081 MONDO:0044201 False severe combined immunodeficiency due to CARD11 deficiency T+ B+ severe combined immunodeficiency UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014083 MONDO:0011096 False agammaglobulinemia 7, autosomal recessive autosomal agammaglobulinemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014084 MONDO:0015244 False ataxia with oculomotor apraxia type 3 autosomal recessive cerebellar ataxia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS MONDO:0014086 MONDO:0800064 False osteogenesis imperfecta type 15 osteogenesis imperfecta and a reduction of bone mineral density. UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014089 MONDO:0017666 False corneal intraepithelial dyskeratosis-palmoplantar hyperkeratosis-laryngeal dyskeratosis syndrome diffuse palmoplantar keratoderma UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014089 MONDO:0020212 False corneal intraepithelial dyskeratosis-palmoplantar hyperkeratosis-laryngeal dyskeratosis syndrome superficial corneal dystrophy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014090 MONDO:0019673 False polydactyly, postaxial, type A6 postaxial polydactyly type A UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014091 MONDO:0000066 False mitochondrial complex V (ATP synthase) deficiency nuclear type 4 mitochondrial complex deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014091 MONDO:0020727 False mitochondrial complex V (ATP synthase) deficiency nuclear type 4 combined oxidative phosphorylation deficiency 22 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS MONDO:0014092 MONDO:0100182 False schizophrenia 18 schizophrenia, susceptibility to UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014094 MONDO:0000577 False severe congenital hypochromic anemia with ringed sideroblasts congenital anemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014094 MONDO:0016624 False severe congenital hypochromic anemia with ringed sideroblasts inherited deficiency anemia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014094 MONDO:0020099 False severe congenital hypochromic anemia with ringed sideroblasts inherited sideroblastic anemia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0014096 MONDO:0015159 False microcephaly-intellectual disability-phalangeal and neurological anomalies syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014097 MONDO:0021147 False congenital short bowel syndrome disorder of development or morphogenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014097 MONDO:0024635 False congenital short bowel syndrome small intestine disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -23100,17 +26469,13 @@ MONDO:0014106 MONDO:0018800 False hypogonadotropic hypogonadism 20 with or witho MONDO:0014107 MONDO:0018800 False hypogonadotropic hypogonadism 21 with or without anosmia Kallmann syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0014110 MONDO:0011060 False cataract 15 multiple types early-onset non-syndromic cataract UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0014111 MONDO:0011060 False cataract 19 multiple types early-onset non-syndromic cataract UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING -MONDO:0014115 MONDO:0019046 False hypomyelination with brain stem and spinal cord involvement and leg spasticity leukodystrophy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING -MONDO:0014117 MONDO:0018995 False Charcot-Marie-Tooth disease type 4B3 Charcot-Marie-Tooth disease type 4 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0014118 MONDO:0028226 False congenital neutropenia-myelofibrosis-nephromegaly syndrome autosomal recessive severe congenital neutropenia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014119 MONDO:0002254 False intellectual disability-strabismus syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0014119 MONDO:0003847 False intellectual disability-strabismus syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0014119 MONDO:0024458 False intellectual disability-strabismus syndrome disorder of visual system UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014124 MONDO:0019713 False Adams-Oliver syndrome 4 non-syndromic limb reduction defect UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014128 MONDO:0015338 False TCF12-related craniosynostosis syndromic craniosynostosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014130 MONDO:0008371 False Dowling-Degos disease 2 Dowling-Degos disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014131 MONDO:0006025 False hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014131 MONDO:0017666 False hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome diffuse palmoplantar keratoderma UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014133 MONDO:0017385 False developmental and epileptic encephalopathy, 16 malignant migrating partial seizures of infancy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014133 MONDO:0100455 False developmental and epileptic encephalopathy, 16 neonatal-onset developmental and epileptic encephalopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014138 MONDO:0015735 False nemaline myopathy 8 severe congenital nemaline myopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -23125,51 +26490,33 @@ MONDO:0014148 MONDO:0002254 False estrogen resistance syndrome syndromic disease MONDO:0014148 MONDO:0003847 False estrogen resistance syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014148 MONDO:0005039 False estrogen resistance syndrome reproductive system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014148 MONDO:0005151 False estrogen resistance syndrome endocrine system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014149 MONDO:0019952 False fetal akinesia-cerebral and retinal hemorrhage syndrome congenital myopathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0014150 MONDO:0016025 False developmental and epileptic encephalopathy 94 myoclonic-astatic epilepsy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014150 MONDO:0016532 False developmental and epileptic encephalopathy 94 Lennox-Gastaut syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS MONDO:0014151 MONDO:0020573 False pulmonary hypertension, neonatal, susceptibility to inherited disease susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014153 MONDO:0100448 False cone-rod dystrophy 18 RAB28-related retinopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014154 MONDO:0017058 False Charcot-Marie-Tooth disease recessive intermediate C autosomal recessive intermediate Charcot-Marie-Tooth disease UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014157 MONDO:0003847 False mandibular hypoplasia-deafness-progeroid syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014157 MONDO:0019303 False mandibular hypoplasia-deafness-progeroid syndrome premature aging syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014160 MONDO:0018814 False TCR-alpha-beta-positive T-cell deficiency non-SCID combined immunodeficiency UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014165 MONDO:0005172 False multiple congenital anomalies-hypotonia-seizures syndrome 3 skeletal system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014165 MONDO:0015327 False multiple congenital anomalies-hypotonia-seizures syndrome 3 developmental anomaly of metabolic origin UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014165 MONDO:0017748 False multiple congenital anomalies-hypotonia-seizures syndrome 3 inborn disorder of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014168 MONDO:0044200 False severe combined immunodeficiency due to CORO1A deficiency T-B+ severe combined immunodeficiency UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014172 MONDO:0018394 False spermatogenic failure 12 male infertility with teratozoospermia due to single gene mutation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014176 MONDO:0002320 False hypotonia, infantile, with psychomotor retardation and characteristic facies congenital nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014176 MONDO:0015159 False hypotonia, infantile, with psychomotor retardation and characteristic facies multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014176 MONDO:0024237 False hypotonia, infantile, with psychomotor retardation and characteristic facies inherited neurodegenerative disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014185 MONDO:0016902 False chromosome 3q13.31 deletion syndrome partial deletion of the long arm of chromosome 3 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014189 MONDO:0100174 False age related macular degeneration 13 age related macular degeneration, susceptibility to UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014195 MONDO:0019118 False microcornea-myopic chorioretinal atrophy inherited retinal dystrophy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014196 MONDO:0002254 False Hartsfield-Bixler-Demyer syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014196 MONDO:0015159 False Hartsfield-Bixler-Demyer syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014196 MONDO:0018230 False Hartsfield-Bixler-Demyer syndrome skeletal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014198 MONDO:0016796 False mitochondrial DNA depletion syndrome 13 mitochondrial DNA depletion syndrome, encephalomyopathic form UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014200 MONDO:0016525 False aldosterone-producing adenoma with seizures and neurological abnormalities familial hyperaldosteronism UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0014201 MONDO:0002320 False developmental and epileptic encephalopathy, 18 congenital nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0014201 MONDO:0015159 False developmental and epileptic encephalopathy, 18 multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014201 MONDO:0020071 False developmental and epileptic encephalopathy, 18 infantile epilepsy syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014204 MONDO:0700007 False basal ganglia calcification, idiopathic, 5 idiopathic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014205 MONDO:0003847 False severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0014205 MONDO:0015159 False severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014206 MONDO:0012580 False severe early-onset pulmonary alveolar proteinosis due to MARS deficiency hereditary pulmonary alveolar proteinosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING -MONDO:0014208 MONDO:0018993 False Charcot-Marie-Tooth disease type 2R Charcot-Marie-Tooth disease type 2 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0014210 MONDO:0000508 False intellectual disability-hypotonia-spasticity-sleep disorder syndrome syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0014210 MONDO:0003847 False intellectual disability-hypotonia-spasticity-sleep disorder syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0014213 MONDO:0000508 False intellectual disability-feeding difficulties-developmental delay-microcephaly syndrome syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0014213 MONDO:0002320 False intellectual disability-feeding difficulties-developmental delay-microcephaly syndrome congenital nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0014213 MONDO:0015159 False intellectual disability-feeding difficulties-developmental delay-microcephaly syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014218 MONDO:0002254 False severe dermatitis-multiple allergies-metabolic wasting syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014218 MONDO:0003847 False severe dermatitis-multiple allergies-metabolic wasting syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014219 MONDO:0002254 False alacrima, achalasia, and intellectual disability syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0014219 MONDO:0006025 False alacrima, achalasia, and intellectual disability syndrome autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0014220 MONDO:0005336 False myopathy due to myoadenylate deaminase deficiency myopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014220 MONDO:0700223 False myopathy due to myoadenylate deaminase deficiency hereditary skeletal muscle disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014221 MONDO:0002908 False triosephosphate isomerase deficiency glucose metabolism disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0014221 MONDO:0017688 False triosephosphate isomerase deficiency disorder of glycolysis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014221 MONDO:0003689 False triosephosphate isomerase deficiency familial hemolytic anemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0014221 MONDO:0020585 False triosephosphate isomerase deficiency anemia due to erythrocyte enzyme disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014222 MONDO:0018338 False immunodeficiency 14 activated PI3K-delta syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014224 MONDO:0100500 False developmental delay with autism spectrum disorder and gait instability Mendelian neurodevelopmental disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014226 MONDO:0700007 False idiopathic CD4 lymphocytopenia idiopathic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -23177,106 +26524,57 @@ MONDO:0014227 MONDO:0000426 False hypopigmentation-punctate palmoplantar keratod MONDO:0014231 MONDO:0000828 False juvenile onset Parkinson disease 19A juvenile-onset Parkinson disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0014231 MONDO:0018321 False juvenile onset Parkinson disease 19A atypical juvenile parkinsonism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014232 MONDO:0020573 False craniosynostosis 5, susceptibility to inherited disease susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014233 MONDO:0017279 False early-onset Parkinson disease 20 young-onset Parkinson disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0014234 MONDO:0019289 False reticulate acropigmentation of Kitamura hyperpigmentation of the skin UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014235 MONDO:0016972 False chromosome 22q13 duplication syndrome partial duplication of the long arm of chromosome 22 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014236 MONDO:0011142 False Ehlers-Danlos syndrome, musculocontractural type 2 Ehlers-Danlos syndrome, musculocontractural type UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014238 MONDO:0003847 False severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0014238 MONDO:0015159 False severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014239 MONDO:0003847 False testicular anomalies with or without congenital heart disease hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014239 MONDO:0016674 False testicular anomalies with or without congenital heart disease 46,XY partial gonadal dysgenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014241 MONDO:0015356 False leukemia, acute lymphoblastic, susceptibility to, 3 hereditary neoplastic syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014243 MONDO:0008300 False Schaaf-Yang syndrome Prader-Willi syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS -MONDO:0014248 MONDO:0015327 False autism spectrum disorder - epilepsy - arthrogryposis syndrome developmental anomaly of metabolic origin UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014248 MONDO:0017740 False autism spectrum disorder - epilepsy - arthrogryposis syndrome disorder of protein N-glycosylation UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014248 MONDO:0019942 False autism spectrum disorder - epilepsy - arthrogryposis syndrome distal arthrogryposis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0014247 MONDO:0002254 False familial episodic pain syndrome with predominantly lower limb involvement syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0014249 MONDO:0000620 False multiple fibroadenoma of the breast breast benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014249 MONDO:0003847 False multiple fibroadenoma of the breast hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014250 MONDO:0003847 False familial hyperprolactinemia hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014250 MONDO:0005804 False familial hyperprolactinemia hyperprolactinemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014251 MONDO:0015979 False melioidosis, susceptibility to hereditary predisposition to infections UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014252 MONDO:0017774 False familial hypobetalipoproteinemia 1 hypobetalipoproteinemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0014255 MONDO:0003847 False complement factor b deficiency hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014257 MONDO:0019006 False nephrotic syndrome, type 9 familial idiopathic steroid-resistant nephrotic syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014258 MONDO:0002254 False congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014258 MONDO:0019052 False congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome inborn errors of metabolism UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014259 MONDO:0015352 False neuronopathy, distal hereditary motor, type 2D distal hereditary motor neuropathy type 2 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0014262 MONDO:0005172 False Rienhoff syndrome skeletal system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014263 MONDO:0003847 False 8q24.3 microdeletion syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014263 MONDO:0005267 False 8q24.3 microdeletion syndrome heart disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014263 MONDO:0015159 False 8q24.3 microdeletion syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014263 MONDO:0016907 False 8q24.3 microdeletion syndrome partial deletion of the long arm of chromosome 8 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014265 MONDO:0004975 False Alzheimer disease 18 Alzheimer disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0014265 MONDO:0015547 False Alzheimer disease 18 hereditary dementia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014265 MONDO:0024237 False Alzheimer disease 18 inherited neurodegenerative disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014266 MONDO:0100174 False age related macular degeneration 15 age related macular degeneration, susceptibility to UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014267 MONDO:0044201 False severe combined immunodeficiency due to IKK2 deficiency T+ B+ severe combined immunodeficiency UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014270 MONDO:0017740 False STT3A-congenital disorder of glycosylation disorder of protein N-glycosylation UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014271 MONDO:0017740 False STT3B-congenital disorder of glycosylation disorder of protein N-glycosylation UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014272 MONDO:0017666 False palmoplantar keratoderma, Nagashima type diffuse palmoplantar keratoderma UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014273 MONDO:0003847 False microcephaly-thin corpus callosum-intellectual disability syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0014273 MONDO:0015159 False microcephaly-thin corpus callosum-intellectual disability syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014274 MONDO:0003847 False L-ferritin deficiency hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014274 MONDO:0005570 False L-ferritin deficiency hematologic disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014275 MONDO:0007600 False Fanconi renotubular syndrome 3 primary Fanconi syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014278 MONDO:0015703 False immunodeficiency 18 T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014278 MONDO:0031520 False immunodeficiency 18 familial severe combined immunodeficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0014280 MONDO:0015703 False immunodeficiency 19 T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014280 MONDO:0031520 False immunodeficiency 19 familial severe combined immunodeficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0014281 MONDO:0015356 False cholangiocarcinoma, susceptibility to hereditary neoplastic syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014282 MONDO:0015149 False hereditary spastic paraplegia 72 pure hereditary spastic paraplegia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014285 MONDO:0020337 False congenital dyserythropoietic anemia type type 1B congenital dyserythropoietic anemia type 1 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0014286 MONDO:0018213 False neuropathy, hereditary sensory, type 1F hereditary sensory and autonomic neuropathy type 1 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0014288 MONDO:0018342 False Joubert syndrome 21 Joubert syndrome with Jeune asphyxiating thoracic dystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014289 MONDO:0003847 False macrocephaly-developmental delay syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0014289 MONDO:0015159 False macrocephaly-developmental delay syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014292 MONDO:0019046 False leukoencephalopathy with mild cerebellar ataxia and white matter edema leukodystrophy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING -MONDO:0014294 MONDO:0016913 False chromosome 15q11.2 deletion syndrome partial deletion of the long arm of chromosome 15 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014295 MONDO:0015150 False hereditary spastic paraplegia 57 complex hereditary spastic paraplegia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014298 MONDO:0015159 False chromosome 5q12 deletion syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014298 MONDO:0016904 False chromosome 5q12 deletion syndrome partial deletion of the long arm of chromosome 5 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014300 MONDO:0005336 False proximal myopathy with extrapyramidal signs myopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0014300 MONDO:0005395 False proximal myopathy with extrapyramidal signs movement disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0014300 MONDO:0700223 False proximal myopathy with extrapyramidal signs hereditary skeletal muscle disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014301 MONDO:0008371 False dowling-degos disease 3 Dowling-Degos disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014302 MONDO:0015149 False hereditary spastic paraplegia 62 pure hereditary spastic paraplegia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014303 MONDO:0015150 False hereditary spastic paraplegia 64 complex hereditary spastic paraplegia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014304 MONDO:0015150 False hereditary spastic paraplegia 61 complex hereditary spastic paraplegia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014305 MONDO:0015150 False hereditary spastic paraplegia 63 complex hereditary spastic paraplegia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014306 MONDO:0002254 False vasculitis due to ADA2 deficiency syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014306 MONDO:0018882 False vasculitis due to ADA2 deficiency vasculitis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014306 MONDO:0100317 False vasculitis due to ADA2 deficiency deficiency of adenosine deaminase 2 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014307 MONDO:0008371 False Dowling-Degos disease 4 Dowling-Degos disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014309 MONDO:0019182 False obesity due to CEP19 deficiency inherited obesity UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0014310 MONDO:0005087 False hereditary sclerosing poikiloderma with tendon and pulmonary involvement respiratory system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014310 MONDO:0016382 False hereditary sclerosing poikiloderma with tendon and pulmonary involvement hereditary poikiloderma UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014310 MONDO:0100118 False hereditary sclerosing poikiloderma with tendon and pulmonary involvement hereditary skin disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014311 MONDO:0018446 False autosomal recessive spinocerebellar ataxia 15 autosomal recessive cerebellar ataxia - epilepsy - intellectual disability syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014313 MONDO:0003778 False autosomal recessive primary immunodeficiency with defective spontaneous natural killer cell cytotoxicity inborn error of immunity UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0014314 MONDO:0003847 False sacral agenesis-abnormal ossification of the vertebral bodies-persistent notochordal canal syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014314 MONDO:0018075 False sacral agenesis-abnormal ossification of the vertebral bodies-persistent notochordal canal syndrome neural tube defect UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014316 MONDO:0004975 False Alzheimer disease 19 Alzheimer disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0014316 MONDO:0015547 False Alzheimer disease 19 hereditary dementia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014316 MONDO:0024237 False Alzheimer disease 19 inherited neurodegenerative disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014317 MONDO:0001713 False pancytopenia-developmental delay syndrome inherited aplastic anemia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014320 MONDO:0000508 False Bosch-Boonstra-Schaaf optic atrophy syndrome syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0014320 MONDO:0003847 False Bosch-Boonstra-Schaaf optic atrophy syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0014326 MONDO:0015735 False nemaline myopathy 9 severe congenital nemaline myopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014326 MONDO:0015736 False nemaline myopathy 9 intermediate nemaline myopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014326 MONDO:0015737 False nemaline myopathy 9 typical nemaline myopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014326 MONDO:0015738 False nemaline myopathy 9 childhood-onset nemaline myopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014327 MONDO:0019272 False palmoplantar keratoderma, nonepidermolytic, focal or diffuse hereditary palmoplantar keratoderma UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014329 MONDO:0015281 False atrial standstill 2 atrial standstill UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014331 MONDO:0004335 False Moyamoya disease with early-onset achalasia digestive system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014332 MONDO:0019225 False hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency disorder of gluconeogenesis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014332 MONDO:0800153 False hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency urea cycle disorder or inherited hyperammonemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014333 MONDO:0003847 False polymicrogyria, bilateral perisylvian, autosomal recessive hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014333 MONDO:0020340 False polymicrogyria, bilateral perisylvian, autosomal recessive bilateral perisylvian polymicrogyria UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014334 MONDO:0017855 False severe combined immunodeficiency due to LCK deficiency T-B- severe combined immunodeficiency UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014335 MONDO:0002254 False diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014335 MONDO:0024237 False diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome inherited neurodegenerative disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014336 MONDO:0000426 False intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0014336 MONDO:0015159 False intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014342 MONDO:0021124 False female infertility due to zona pellucida defect female infertility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014344 MONDO:0000119 False congenital heart defects, multiple types, 4 congenital heart defects, multiple types UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014344 MONDO:0020290 False congenital heart defects, multiple types, 4 familial atrioventricular septal defect UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING @@ -23284,7 +26582,6 @@ MONDO:0014345 MONDO:0700232 False retinitis pigmentosa 69 KIZ-related retinopath MONDO:0014347 MONDO:0800063 False short stature with microcephaly and distinctive facies primordial dwarfism and slender bone disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014348 MONDO:0019502 False intellectual disability, autosomal recessive 42 autosomal recessive non-syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0014350 MONDO:0800063 False Seckel syndrome 8 primordial dwarfism and slender bone disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014353 MONDO:0017749 False immunodeficiency 23 disorder of multiple glycosylation UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014355 MONDO:0011581 False cardiomyopathy, dilated, with wooly hair, keratoderma, and tooth agenesis arrhythmogenic cardiomyopathy with wooly hair and keratoderma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0014358 MONDO:0000508 False AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0014358 MONDO:0100172 False AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome intellectual disability, autosomal dominant UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING @@ -23292,73 +26589,40 @@ MONDO:0014360 MONDO:0018614 False developmental and epileptic encephalopathy, 21 MONDO:0014360 MONDO:0100455 False developmental and epileptic encephalopathy, 21 neonatal-onset developmental and epileptic encephalopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014361 MONDO:0000508 False autism spectrum disorder due to AUTS2 deficiency syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0014361 MONDO:0002320 False autism spectrum disorder due to AUTS2 deficiency congenital nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0014361 MONDO:0015159 False autism spectrum disorder due to AUTS2 deficiency multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014362 MONDO:0003847 False chromosome 16 inversion, 0.45-Mb hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014362 MONDO:0043678 False chromosome 16 inversion, 0.45-Mb chromosome inversion disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014362 MONDO:0700023 False chromosome 16 inversion, 0.45-Mb chromosome 16 disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014369 MONDO:0000426 False postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0014369 MONDO:0002254 False postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0014369 MONDO:0018234 False postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome dysostosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0014369 MONDO:0018762 False postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome non-acquired combined pituitary hormone deficiency UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014369 MONDO:0019054 False postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome congenital limb malformation UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014371 MONDO:0002320 False developmental and epileptic encephalopathy, 23 congenital nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0014371 MONDO:0015159 False developmental and epileptic encephalopathy, 23 multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014373 MONDO:0019006 False nephrotic syndrome, type 10 familial idiopathic steroid-resistant nephrotic syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014375 MONDO:0005020 False congenital diarrhea 7 with exudative enteropathy intestinal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0014376 MONDO:0000426 False intellectual disability, autosomal dominant 27 autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0014377 MONDO:0018614 False developmental and epileptic encephalopathy, 24 undetermined early-onset epileptic encephalopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014377 MONDO:0100455 False developmental and epileptic encephalopathy, 24 neonatal-onset developmental and epileptic encephalopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014379 MONDO:0000508 False ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0014379 MONDO:0002320 False ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder congenital nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0014379 MONDO:0015159 False ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014379 MONDO:0100172 False ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder intellectual disability, autosomal dominant UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING -MONDO:0014380 MONDO:0018230 False colobomatous microphthalmia-rhizomelic dysplasia syndrome skeletal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014382 MONDO:0015159 False Tatton-Brown-Rahman overgrowth syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014382 MONDO:0018230 False Tatton-Brown-Rahman overgrowth syndrome skeletal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014384 MONDO:0018914 False hypotrichosis 12 hypotrichosis simplex UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014385 MONDO:0015048 False amelogenesis imperfecta hypomaturation type 2A5 amelogenesis imperfecta type 2 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014386 MONDO:0021181 False platelet-type bleeding disorder 18 inherited blood coagulation disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014387 MONDO:0800448 False leukoencephalopathy, progressive, with ovarian failure leukoencephalopathy with vanishing white matter UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0014388 MONDO:0021147 False familial median cleft of the upper and lower lips disorder of development or morphogenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014389 MONDO:0002412 False polyglucosan body myopathy 1 with or without immunodeficiency disorder of glycogen metabolism UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0014390 MONDO:0008686 False hypotrichosis 13 isolated familial wooly hair disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0014391 MONDO:0044201 False severe combined immunodeficiency due to CTPS1 deficiency T+ B+ severe combined immunodeficiency UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014392 MONDO:0018614 False developmental and epileptic encephalopathy, 25 undetermined early-onset epileptic encephalopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014392 MONDO:0100455 False developmental and epileptic encephalopathy, 25 neonatal-onset developmental and epileptic encephalopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014395 MONDO:0030923 False frontotemporal dementia and/or amyotrophic lateral sclerosis 2 frontotemporal dementia and/or amyotrophic lateral sclerosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0014399 MONDO:0021190 False ataxia-telangiectasia-like disorder 2 DNA repair disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014401 MONDO:0002254 False tall stature-scoliosis-macrodactyly of the great toes syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0014401 MONDO:0018230 False tall stature-scoliosis-macrodactyly of the great toes syndrome skeletal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014402 MONDO:0020087 False severe neurodegenerative syndrome with lipodystrophy hereditary lipodystrophy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014402 MONDO:0024237 False severe neurodegenerative syndrome with lipodystrophy inherited neurodegenerative disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014402 MONDO:0100198 False severe neurodegenerative syndrome with lipodystrophy Mendelian encephalopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014403 MONDO:0019824 False short stature due to GHSR deficiency non-acquired pituitary hormone deficiency UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014404 MONDO:0003847 False Webb-Dattani syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014405 MONDO:0005385 False STING-associated vasculopathy with onset in infancy vascular disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0014405 MONDO:0019751 False STING-associated vasculopathy with onset in infancy autoinflammatory syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014405 MONDO:0021166 False STING-associated vasculopathy with onset in infancy inflammatory disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014405 MONDO:0023603 False STING-associated vasculopathy with onset in infancy hereditary disorder of connective tissue UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014410 MONDO:0019792 False spinocerebellar ataxia type 37 autosomal dominant cerebellar ataxia type I UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014412 MONDO:0001336 False hyperlipoproteinemia, type 1D familial hyperlipidemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0014412 MONDO:0006025 False hyperlipoproteinemia, type 1D autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0014412 MONDO:0015905 False hyperlipoproteinemia, type 1D syndromic dyslipidemia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014412 MONDO:0018637 False hyperlipoproteinemia, type 1D familial chylomicronemia syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0014413 MONDO:0015159 False orofaciodigital syndrome type 14 multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014414 MONDO:0002334 False STAT3-related early-onset multisystem autoimmune disease hematopoietic and lymphoid system neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014415 MONDO:0003847 False kallikrein, decreased urinary activity of hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014416 MONDO:0003847 False ACTH-independent macronodular adrenal hyperplasia 2 hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0014416 MONDO:0009049 False ACTH-independent macronodular adrenal hyperplasia 2 Cushing syndrome due to macronodular adrenal hyperplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0014417 MONDO:0018117 False spinocerebellar ataxia type 38 disorder of phospholipids, sphingolipids and fatty acids biosynthesis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014417 MONDO:0019793 False spinocerebellar ataxia type 38 autosomal dominant cerebellar ataxia type III UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014418 MONDO:0015705 False myopathy, centronuclear, 5 autosomal recessive centronuclear myopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0014419 MONDO:0003847 False ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014419 MONDO:0020022 False ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome central nervous system malformation UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014420 MONDO:0003847 False short stature due to primary acid-labile subunit deficiency hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014420 MONDO:0015892 False short stature due to primary acid-labile subunit deficiency growth hormone insensitivity syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014421 MONDO:0002525 False glucocorticoid resistance inherited lipid metabolism disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014421 MONDO:0015898 False glucocorticoid resistance adrenogenital syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014423 MONDO:0017855 False severe combined immunodeficiency due to DNA-PKcs deficiency T-B- severe combined immunodeficiency UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014429 MONDO:0019146 False autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency inherited susceptibility to mycobacterial diseases UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014431 MONDO:0000816 False LIPE-related familial partial lipodystrophy abdominal obesity-metabolic syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS MONDO:0014437 MONDO:0700236 False Bardet-Biedl syndrome 9 BBS9-related ciliopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014438 MONDO:0700237 False Bardet-Biedl syndrome 10 BBS10-related ciliopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -23366,101 +26630,58 @@ MONDO:0014439 MONDO:0002320 False Bardet-Biedl syndrome 11 congenital nervous sy MONDO:0014439 MONDO:0016153 False Bardet-Biedl syndrome 11 qualitative or quantitative defects of TRIM32 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014442 MONDO:0100451 False Bardet-Biedl syndrome 14 CEP290-related ciliopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014448 MONDO:0003847 False hyperthyroxinemia, familial dysalbuminemic hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014448 MONDO:0004425 False hyperthyroxinemia, familial dysalbuminemic hyperthyroidism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014448 MONDO:0005333 False hyperthyroxinemia, familial dysalbuminemic hyperthyroxinemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014449 MONDO:0003847 False congenital analbuminemia hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014449 MONDO:0009332 False congenital analbuminemia congenital hematological disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014452 MONDO:0018060 False familial dysfibrinogenemia congenital fibrinogen deficiency UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014453 MONDO:0018338 False immunodeficiency 36 activated PI3K-delta syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014455 MONDO:0015514 False cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome hereditary endocrine growth disease UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014455 MONDO:0016387 False cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome mitochondrial oxidative phosphorylation disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014455 MONDO:0016761 False cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome spondyloepiphyseal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014455 MONDO:0020127 False cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome hereditary peripheral neuropathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014456 MONDO:0028226 False autosomal recessive severe congenital neutropenia due to JAGN1 deficiency autosomal recessive severe congenital neutropenia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014458 MONDO:0018911 False Fanconi renotubular syndrome 4 with maturity-onset diabetes of the young maturity-onset diabetes of the young UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS MONDO:0014459 MONDO:0019713 False Adams-Oliver syndrome 5 non-syndromic limb reduction defect UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014460 MONDO:0017672 False nail and teeth abnormalities-marginal palmoplantar keratoderma-oral hyperpigmentation syndrome focal palmoplantar keratoderma UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014460 MONDO:0019287 False nail and teeth abnormalities-marginal palmoplantar keratoderma-oral hyperpigmentation syndrome ectodermal dysplasia syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING -MONDO:0014460 MONDO:0019289 False nail and teeth abnormalities-marginal palmoplantar keratoderma-oral hyperpigmentation syndrome hyperpigmentation of the skin UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014461 MONDO:0018800 False hypogonadotropic hypogonadism 22 with or without anosmia Kallmann syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0014464 MONDO:0018117 False progressive encephalopathy with leukodystrophy due to DECR deficiency disorder of phospholipids, sphingolipids and fatty acids biosynthesis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014464 MONDO:0019046 False progressive encephalopathy with leukodystrophy due to DECR deficiency leukodystrophy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING -MONDO:0014467 MONDO:0016387 False Charcot-Marie-Tooth disease recessive intermediate D mitochondrial oxidative phosphorylation disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014467 MONDO:0017058 False Charcot-Marie-Tooth disease recessive intermediate D autosomal recessive intermediate Charcot-Marie-Tooth disease UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014471 MONDO:0000732 False mitochondrial proton-transporting ATP synthase complex deficiency combined oxidative phosphorylation deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS -MONDO:0014472 MONDO:0017953 False periodic fever-infantile enterocolitis-autoinflammatory syndrome hereditary periodic fever syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014473 MONDO:0019342 False microcephaly 13, primary, autosomal recessive Seckel syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS MONDO:0014473 MONDO:0800063 False microcephaly 13, primary, autosomal recessive primordial dwarfism and slender bone disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014474 MONDO:0100530 False autosomal recessive limb-girdle muscular dystrophy type 2U myopathy caused by variation in CRPPA UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014475 MONDO:0019792 False spinocerebellar ataxia type 40 autosomal dominant cerebellar ataxia type I UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014477 MONDO:0018614 False developmental and epileptic encephalopathy, 26 undetermined early-onset epileptic encephalopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014477 MONDO:0100455 False developmental and epileptic encephalopathy, 26 neonatal-onset developmental and epileptic encephalopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014479 MONDO:0019212 False porokeratosis 8, disseminated superficial actinic type disseminated superficial actinic porokeratosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014480 MONDO:0016674 False 46,XY sex reversal 9 46,XY partial gonadal dysgenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014482 MONDO:0000426 False intellectual disability, autosomal dominant 29 autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0014482 MONDO:0002254 False intellectual disability, autosomal dominant 29 syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0014483 MONDO:0019118 False retinal dystrophy with inner retinal dysfunction and ganglion cell anomalies inherited retinal dystrophy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014485 MONDO:0016396 False pontocerebellar hypoplasia, type 1C pontocerebellar hypoplasia type 1 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0014486 MONDO:0000426 False intellectual disability, autosomal dominant 30 autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0014486 MONDO:0002254 False intellectual disability, autosomal dominant 30 syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0014487 MONDO:0002254 False congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0014487 MONDO:0005046 False congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome immune system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0014487 MONDO:0020099 False congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome inherited sideroblastic anemia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0014488 MONDO:0005148 False diabetes mellitus, noninsulin-dependent, 5 type 2 diabetes mellitus UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0014488 MONDO:0015967 False diabetes mellitus, noninsulin-dependent, 5 monogenic diabetes UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014489 MONDO:0015152 False limb-girdle muscular dystrophy due to POMK deficiency autosomal recessive limb-girdle muscular dystrophy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS -MONDO:0014489 MONDO:0016155 False limb-girdle muscular dystrophy due to POMK deficiency qualitative or quantitative defects of protein involved in O-glycosylation of alpha-dystroglycan UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014490 MONDO:0019223 False ketoacidosis due to monocarboxylate transporter-1 deficiency disorder of fatty acid and ketone body metabolism UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014491 MONDO:0003778 False immunodeficiency 37 inborn error of immunity UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0014492 MONDO:0017672 False wooly hair-palmoplantar keratoderma syndrome focal palmoplantar keratoderma UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014493 MONDO:0017979 False autoimmune lymphoproliferative syndrome due to CTLA4 haploinsuffiency autoimmune lymphoproliferative syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014494 MONDO:0100171 False psoriasis 15, pustular, susceptibility to psoriasis, susceptibility to UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014495 MONDO:0002254 False retinitis pigmentosa-juvenile cataract-short stature-intellectual disability syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014495 MONDO:0003847 False retinitis pigmentosa-juvenile cataract-short stature-intellectual disability syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014497 MONDO:0002254 False polyendocrine-polyneuropathy syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014497 MONDO:0015770 False polyendocrine-polyneuropathy syndrome congenital hypogonadotropic hypogonadism UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014500 MONDO:0003847 False atrial conduction disease hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014500 MONDO:0005449 False atrial conduction disease conduction system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014501 MONDO:0003004 False macular degeneration, early-onset macular degeneration UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014501 MONDO:0019118 False macular degeneration, early-onset inherited retinal dystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014502 MONDO:0019146 False Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency inherited susceptibility to mycobacterial diseases UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014503 MONDO:0020043 False autosomal recessive spinocerebellar ataxia 17 autosomal recessive congenital cerebellar ataxia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014505 MONDO:0018097 False developmental and epileptic encephalopathy, 27 West syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0014507 MONDO:0015159 False Catel-Manzke syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014507 MONDO:0018230 False Catel-Manzke syndrome skeletal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014508 MONDO:0011979 False vitelliform macular dystrophy 4 adult-onset foveomacular vitelliform dystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014509 MONDO:0011979 False vitelliform macular dystrophy 5 adult-onset foveomacular vitelliform dystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014509 MONDO:0700242 False vitelliform macular dystrophy 5 IMPG2-related dominant retinopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014510 MONDO:0005328 False fatty acyl-CoA reductase 1 deficiency eye disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0014510 MONDO:0019701 False fatty acyl-CoA reductase 1 deficiency chondrodysplasia punctata UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0014510 MONDO:0100275 False fatty acyl-CoA reductase 1 deficiency fatty acyl-CoA reductase defects UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014511 MONDO:0018993 False Charcot-Marie-Tooth disease axonal type 2S Charcot-Marie-Tooth disease type 2 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0014512 MONDO:0000426 False PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0014513 MONDO:0015735 False nemaline myopathy 10 severe congenital nemaline myopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014513 MONDO:0015737 False nemaline myopathy 10 typical nemaline myopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014515 MONDO:0005150 False macular dystrophy with central cone involvement age-related macular degeneration UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING -MONDO:0014516 MONDO:0006025 False microcephaly and chorioretinopathy 2 autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0014519 MONDO:0020573 False chronic mountain sickness, susceptibility to inherited disease susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014520 MONDO:0019852 False 46,XX ovarian dysgenesis-short stature syndrome inherited primary ovarian failure UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0014521 MONDO:0005395 False progressive myoclonic epilepsy type 7 movement disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0014522 MONDO:0019200 False retinal dystrophy and obesity retinitis pigmentosa UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING -MONDO:0014523 MONDO:0100309 False juvenile-onset diabetes mellitus-central and peripheral neurodegeneration syndrome hereditary ataxia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014526 MONDO:0100314 False polyglucosan body myopathy type 2 GYG1-related disorder of glycogen metabolism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014527 MONDO:0015356 False progeroid features-hepatocellular carcinoma predisposition syndrome hereditary neoplastic syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014527 MONDO:0021147 False progeroid features-hepatocellular carcinoma predisposition syndrome disorder of development or morphogenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014528 MONDO:0002254 False chronic atrial and intestinal dysrhythmia syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0014528 MONDO:0003847 False chronic atrial and intestinal dysrhythmia hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0014528 MONDO:0005020 False chronic atrial and intestinal dysrhythmia intestinal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0014529 MONDO:0002320 False cerebellar-facial-dental syndrome congenital nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0014529 MONDO:0003847 False cerebellar-facial-dental syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0014529 MONDO:0015159 False cerebellar-facial-dental syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014529 MONDO:0020022 False cerebellar-facial-dental syndrome central nervous system malformation UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014530 MONDO:0018189 False autosomal recessive spinocerebellar ataxia 18 autosomal recessive cerebellar ataxia - pyramidal signs - nystagmus - oculomotor apraxia syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014532 MONDO:0009637 False autosomal dominant mitochondrial myopathy with exercise intolerance inborn mitochondrial myopathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0014532 MONDO:0016387 False autosomal dominant mitochondrial myopathy with exercise intolerance mitochondrial oxidative phosphorylation disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014532 MONDO:0020123 False autosomal dominant mitochondrial myopathy with exercise intolerance metabolic myopathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014533 MONDO:0018614 False developmental and epileptic encephalopathy, 28 undetermined early-onset epileptic encephalopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014533 MONDO:0100455 False developmental and epileptic encephalopathy, 28 neonatal-onset developmental and epileptic encephalopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014534 MONDO:0015204 False lissencephaly 6 with microcephaly microlissencephaly UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0014535 MONDO:0003847 False hyperproinsulinemia hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014536 MONDO:0011071 False thrombocytopenia 5 hereditary thrombocytopenia and hematologic cancer predisposition syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014538 MONDO:0002320 False fibrosis of extraocular muscles, congenital, 5 congenital nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS @@ -23468,23 +26689,13 @@ MONDO:0014540 MONDO:0015047 False amelogenesis imperfecta type 1H amelogenesis i MONDO:0014542 MONDO:0002320 False congenital myasthenic syndrome 15 congenital nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0014543 MONDO:0011933 False congenital myasthenic syndrome 14 ALG2-congenital disorder of glycosylation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS MONDO:0014544 MONDO:0800064 False osteogenesis imperfecta type 16 osteogenesis imperfecta and a reduction of bone mineral density. UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014545 MONDO:0018117 False progressive myoclonic epilepsy type 8 disorder of phospholipids, sphingolipids and fatty acids biosynthesis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014546 MONDO:0016199 False myopathy due to calsequestrin and SERCA1 protein overload qualitative or quantitative defects of protein SERCA1 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014546 MONDO:0700223 False myopathy due to calsequestrin and SERCA1 protein overload hereditary skeletal muscle disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014551 MONDO:0003847 False short stature with nonspecific skeletal abnormalities hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014552 MONDO:0002320 False lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome congenital nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014552 MONDO:0015168 False lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome arthrogryposis multiplex congenita UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING -MONDO:0014552 MONDO:0020022 False lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome central nervous system malformation UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014553 MONDO:0003847 False Tenorio syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014555 MONDO:0010033 False peeling skin syndrome type A generalized peeling skin syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014556 MONDO:0003847 False congenital contractures of the limbs and face, hypotonia, and developmental delay hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0014557 MONDO:0020047 False ataxia - oculomotor apraxia type 4 autosomal recessive syndromic cerebellar ataxia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014557 MONDO:0020127 False ataxia - oculomotor apraxia type 4 hereditary peripheral neuropathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014557 MONDO:0044807 False ataxia - oculomotor apraxia type 4 inherited dystonia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0014558 MONDO:0000508 False autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0014558 MONDO:0002320 False autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome congenital nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0014558 MONDO:0005267 False autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome heart disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0014558 MONDO:0015159 False autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014558 MONDO:0015338 False autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome syndromic craniosynostosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014558 MONDO:0100172 False autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome intellectual disability, autosomal dominant UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0014559 MONDO:0005395 False progressive essential tremor-speech impairment-facial dysmorphism-intellectual disability-abnormal behavior syndrome movement disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS @@ -23494,17 +26705,12 @@ MONDO:0014563 MONDO:0003847 False mitochondrial short-chain Enoyl-Coa hydratase MONDO:0014563 MONDO:0044970 False mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency mitochondrial disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014564 MONDO:0100372 False congenital bile acid synthesis defect 5 disorder of peroxisomal transporter UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014565 MONDO:0011060 False cataract 43 early-onset non-syndromic cataract UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING -MONDO:0014566 MONDO:0018993 False Charcot-Marie-Tooth disease axonal type 2U Charcot-Marie-Tooth disease type 2 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0014567 MONDO:0015150 False glutamate pyruvate transaminase 2 deficiency complex hereditary spastic paraplegia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014568 MONDO:0015149 False hereditary spastic paraplegia 73 pure hereditary spastic paraplegia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014573 MONDO:0800064 False Cole-Carpenter syndrome 2 osteogenesis imperfecta and a reduction of bone mineral density. UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014574 MONDO:0002051 False peeling skin-leukonuchia-acral punctate keratoses-cheilitis-knuckle pads syndrome integumentary system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014574 MONDO:0002254 False peeling skin-leukonuchia-acral punctate keratoses-cheilitis-knuckle pads syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014574 MONDO:0003847 False peeling skin-leukonuchia-acral punctate keratoses-cheilitis-knuckle pads syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014575 MONDO:0800064 False Singleton-Merten syndrome 2 osteogenesis imperfecta and a reduction of bone mineral density. UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014576 MONDO:0018424 False lipoyl transferase 1 deficiency inherited lipoic acid biosynthesis defect UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014578 MONDO:0020344 False congenital myasthenic syndrome 17 postsynaptic congenital myasthenic syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014580 MONDO:0015802 False intellectual disability, autosomal dominant 33 autosomal dominant non-syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0014581 MONDO:0020344 False congenital myasthenic syndrome 2A postsynaptic congenital myasthenic syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014582 MONDO:0020344 False congenital myasthenic syndrome 2C postsynaptic congenital myasthenic syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014583 MONDO:0020344 False congenital myasthenic syndrome 3A postsynaptic congenital myasthenic syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -23513,60 +26719,34 @@ MONDO:0014585 MONDO:0020344 False congenital myasthenic syndrome 3C postsynaptic MONDO:0014586 MONDO:0020344 False congenital myasthenic syndrome 4B postsynaptic congenital myasthenic syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014587 MONDO:0020344 False congenital myasthenic syndrome 9 postsynaptic congenital myasthenic syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014588 MONDO:0020344 False congenital myasthenic syndrome 11 postsynaptic congenital myasthenic syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014589 MONDO:0018911 False maturity-onset diabetes of the young type 13 maturity-onset diabetes of the young UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS MONDO:0014590 MONDO:0002320 False congenital myasthenic syndrome 18 congenital nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0014591 MONDO:0008389 False autosomal dominant Robinow syndrome 2 autosomal dominant Robinow syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014593 MONDO:0018614 False developmental and epileptic encephalopathy, 29 undetermined early-onset epileptic encephalopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014593 MONDO:0100455 False developmental and epileptic encephalopathy, 29 neonatal-onset developmental and epileptic encephalopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014595 MONDO:0016022 False developmental and epileptic encephalopathy, 30 early myoclonic encephalopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0014595 MONDO:0018097 False developmental and epileptic encephalopathy, 30 West syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0014597 MONDO:0003778 False immunodeficiency 39 inborn error of immunity UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0014598 MONDO:0016532 False developmental and epileptic encephalopathy, 31 Lennox-Gastaut syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS MONDO:0014598 MONDO:0018614 False developmental and epileptic encephalopathy, 31 undetermined early-onset epileptic encephalopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014598 MONDO:0100455 False developmental and epileptic encephalopathy, 31 neonatal-onset developmental and epileptic encephalopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014599 MONDO:0015802 False intellectual disability, autosomal dominant 34 autosomal dominant non-syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0014601 MONDO:0002320 False autosomal recessive spinocerebellar ataxia 20 congenital nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0014601 MONDO:0015159 False autosomal recessive spinocerebellar ataxia 20 multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014601 MONDO:0020022 False autosomal recessive spinocerebellar ataxia 20 central nervous system malformation UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014602 MONDO:0000508 False intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0014602 MONDO:0002320 False intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome congenital nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0014602 MONDO:0015159 False intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014604 MONDO:0008199 False Parkinson disease 21 late-onset Parkinson disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS -MONDO:0014605 MONDO:0000426 False microcephaly-corpus callosum hypoplasia-intellectual disability-facial dysmorphism syndrome autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0014602 MONDO:0100172 False intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome intellectual disability, autosomal dominant UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0014605 MONDO:0002254 False microcephaly-corpus callosum hypoplasia-intellectual disability-facial dysmorphism syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0014605 MONDO:0015159 False microcephaly-corpus callosum hypoplasia-intellectual disability-facial dysmorphism syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014606 MONDO:0000508 False intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0014606 MONDO:0002320 False intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome congenital nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0014606 MONDO:0015159 False intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014607 MONDO:0018614 False developmental and epileptic encephalopathy, 32 undetermined early-onset epileptic encephalopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014607 MONDO:0100455 False developmental and epileptic encephalopathy, 32 neonatal-onset developmental and epileptic encephalopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014608 MONDO:0002051 False mandibulofacial dysostosis with alopecia integumentary system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0014608 MONDO:0002254 False mandibulofacial dysostosis with alopecia syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0014608 MONDO:0015483 False mandibulofacial dysostosis with alopecia mandibulofacial dysostosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014608 MONDO:0018234 False mandibulofacial dysostosis with alopecia dysostosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0014608 MONDO:0018751 False mandibulofacial dysostosis with alopecia hereditary otorhinolaryngologic disease UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014609 MONDO:0015159 False cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014609 MONDO:0018230 False cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome skeletal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014611 MONDO:0004884 False multiple mitochondrial dysfunctions syndrome 4 eye degenerative disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0014611 MONDO:0019046 False multiple mitochondrial dysfunctions syndrome 4 leukodystrophy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS MONDO:0014613 MONDO:0800467 False pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 dyskeratosis congenita and related telomere biology disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014614 MONDO:0002320 False congenital stationary night blindness 1G congenital nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0014614 MONDO:0006025 False congenital stationary night blindness 1G autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0014615 MONDO:0002470 False trichothiodystrophy 2, photosensitive photosensitive trichothiodystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0014619 MONDO:0002470 False trichothiodystrophy 3, photosensitive photosensitive trichothiodystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0014620 MONDO:0000903 False myoclonic dystonia 26 myoclonus-dystonia syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0014622 MONDO:0017672 False isolated focal non-epidermolytic palmoplantar keratoderma focal palmoplantar keratoderma UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014624 MONDO:0003847 False Brown syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0014624 MONDO:0004753 False Brown syndrome mechanical strabismus UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0014625 MONDO:0018614 False developmental and epileptic encephalopathy, 33 undetermined early-onset epileptic encephalopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014625 MONDO:0100455 False developmental and epileptic encephalopathy, 33 neonatal-onset developmental and epileptic encephalopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014626 MONDO:0019793 False spinocerebellar ataxia type 41 autosomal dominant cerebellar ataxia type III UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014627 MONDO:0000479 False dystonia 27 segmental dystonia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0014627 MONDO:0015990 False dystonia 27 focal, segmental or multifocal dystonia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014628 MONDO:0700007 False basal ganglia calcification, idiopathic, 6 idiopathic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014629 MONDO:0003847 False autoimmune interstitial lung disease-arthritis syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0014629 MONDO:0005087 False autoimmune interstitial lung disease-arthritis syndrome respiratory system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0014630 MONDO:0016362 False familial adenomatous polyposis 3 attenuated familial adenomatous polyposis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014631 MONDO:0018101 False hypomagnesemia, seizures, and intellectual disability familial primary hypomagnesemia with normocalciuria and normocalcemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014633 MONDO:0016025 False myoclonic-atonic epilepsy myoclonic-astatic epilepsy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014634 MONDO:0016674 False 46,XY sex reversal 10 46,XY partial gonadal dysgenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -23575,29 +26755,16 @@ MONDO:0014640 MONDO:0030923 False frontotemporal dementia and/or amyotrophic lat MONDO:0014640 MONDO:0800464 False frontotemporal dementia and/or amyotrophic lateral sclerosis 3 SQSTM1-related multisystem proteinopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014641 MONDO:0030923 False frontotemporal dementia and/or amyotrophic lateral sclerosis 4 frontotemporal dementia and/or amyotrophic lateral sclerosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0014643 MONDO:0003847 False congenital cataract-microcephaly-nevus flammeus simplex-severe intellectual disability syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014643 MONDO:0015159 False congenital cataract-microcephaly-nevus flammeus simplex-severe intellectual disability syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014644 MONDO:0015150 False hereditary spastic paraplegia 74 complex hereditary spastic paraplegia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014645 MONDO:0003778 False BENTA disease inborn error of immunity UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014647 MONDO:0002320 False developmental and epileptic encephalopathy, 50 congenital nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0014647 MONDO:0005500 False developmental and epileptic encephalopathy, 50 congenital disorder of glycosylation type I UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS -MONDO:0014647 MONDO:0017749 False developmental and epileptic encephalopathy, 50 disorder of multiple glycosylation UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014647 MONDO:0019238 False developmental and epileptic encephalopathy, 50 inborn disorder of pyrimidine metabolism UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0014648 MONDO:0019502 False Al-Raqad syndrome autosomal recessive non-syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING -MONDO:0014651 MONDO:0018237 False acrofacial dysostosis Cincinnati type acrofacial dysostosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0014656 MONDO:0018002 False progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 2 adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014658 MONDO:0000426 False severe achondroplasia-developmental delay-acanthosis nigricans syndrome autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0014658 MONDO:0019685 False severe achondroplasia-developmental delay-acanthosis nigricans syndrome FGFR3-related chondrodysplasia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014662 MONDO:0002320 False congenital insensitivity to pain-hypohidrosis syndrome congenital nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0014665 MONDO:0018993 False Charcot-Marie-Tooth disease axonal type 2V Charcot-Marie-Tooth disease type 2 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0014667 MONDO:0015487 False cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 3 fatal infantile encephalocardiomyopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0014668 MONDO:0015487 False cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 4 fatal infantile encephalocardiomyopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0014671 MONDO:0002316 False neuropathy, hereditary motor and sensory, type 6B motor peripheral neuropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014671 MONDO:0019551 False neuropathy, hereditary motor and sensory, type 6B hereditary motor and sensory neuropathy type 6 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014672 MONDO:0800064 False osteogenesis imperfecta type 17 osteogenesis imperfecta and a reduction of bone mineral density. UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014673 MONDO:0011060 False cataract 44 early-onset non-syndromic cataract UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING -MONDO:0014674 MONDO:0018911 False maturity-onset diabetes of the young type 14 maturity-onset diabetes of the young UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS MONDO:0014676 MONDO:0021106 False Emery-Dreifuss muscular dystrophy 3, autosomal recessive laminopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014677 MONDO:0018852 False achromatopsia 7 achromatopsia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0014677 MONDO:0100447 False achromatopsia 7 ATF6-related retinopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014679 MONDO:0003847 False polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014679 MONDO:0020340 False polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis bilateral perisylvian polymicrogyria UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -23611,44 +26778,28 @@ MONDO:0014686 MONDO:0005039 False short stature, microcephaly, and endocrine dys MONDO:0014686 MONDO:0005151 False short stature, microcephaly, and endocrine dysfunction endocrine system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014686 MONDO:0800063 False short stature, microcephaly, and endocrine dysfunction primordial dwarfism and slender bone disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014688 MONDO:0018342 False short-rib thoracic dysplasia 14 with polydactyly Joubert syndrome with Jeune asphyxiating thoracic dystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014689 MONDO:0019952 False Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome congenital myopathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS -MONDO:0014690 MONDO:0000426 False dyskeratosis congenita, autosomal dominant 6 autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0014690 MONDO:0060782 False dyskeratosis congenita, autosomal dominant 6 premalignant hematological system disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014694 MONDO:0010180 False spondylocostal dysostosis 6, autosomal recessive autosomal recessive spondylocostal dysostosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014698 MONDO:0003847 False microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014698 MONDO:0005328 False microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome eye disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014699 MONDO:0100172 False intellectual disability, autosomal dominant 40 intellectual disability, autosomal dominant UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING -MONDO:0014700 MONDO:0018681 False Au-Kline syndrome neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-hip dysplasia syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014700 MONDO:0100500 False Au-Kline syndrome Mendelian neurodevelopmental disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014701 MONDO:0016761 False spondyloepiphyseal dysplasia, Stanescu type spondyloepiphyseal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0014701 MONDO:0022800 False spondyloepiphyseal dysplasia, Stanescu type type 2 collagenopathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014702 MONDO:0015150 False autosomal recessive complex spastic paraplegia type 9B complex hereditary spastic paraplegia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014702 MONDO:0100126 False autosomal recessive complex spastic paraplegia type 9B P5CS deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014703 MONDO:0019713 False Adams-Oliver syndrome 6 non-syndromic limb reduction defect UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014704 MONDO:0018230 False skeletal overgrowth-craniofacial dysmorphism-hyperelastic skin-white matter lesions syndrome skeletal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014705 MONDO:0018971 False craniosynostosis 6 isolated oxycephaly UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014706 MONDO:0015327 False cutis laxa, autosomal dominant 3 developmental anomaly of metabolic origin UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014706 MONDO:0019571 False cutis laxa, autosomal dominant 3 autosomal dominant cutis laxa UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0014706 MONDO:0100126 False cutis laxa, autosomal dominant 3 P5CS deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014707 MONDO:0016964 False 14q32 duplication syndrome partial duplication of the long arm of chromosome 14 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014708 MONDO:0700021 False ring chromosome 14 chromosome 14 disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014708 MONDO:0700091 False ring chromosome 14 ring chromosome disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014710 MONDO:0019146 False autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency inherited susceptibility to mycobacterial diseases UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014711 MONDO:0018993 False autosomal dominant Charcot-Marie-Tooth disease type 2W Charcot-Marie-Tooth disease type 2 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0014713 MONDO:0019212 False porokeratosis 9, multiple types disseminated superficial actinic porokeratosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014714 MONDO:0002254 False progressive microcephaly-seizures-cortical blindness-developmental delay syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014714 MONDO:0003847 False progressive microcephaly-seizures-cortical blindness-developmental delay syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014714 MONDO:0021147 False progressive microcephaly-seizures-cortical blindness-developmental delay syndrome disorder of development or morphogenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014715 MONDO:0003778 False primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection inborn error of immunity UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0014716 MONDO:0002320 False macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome congenital nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014716 MONDO:0003847 False macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014716 MONDO:0015159 False macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014716 MONDO:0100283 False macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014718 MONDO:0017385 False developmental and epileptic encephalopathy, 34 malignant migrating partial seizures of infancy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014718 MONDO:0100455 False developmental and epileptic encephalopathy, 34 neonatal-onset developmental and epileptic encephalopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014719 MONDO:0019236 False developmental and epileptic encephalopathy, 35 inborn disorder of purine metabolism UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014719 MONDO:0024237 False developmental and epileptic encephalopathy, 35 inherited neurodegenerative disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014720 MONDO:0020250 False autosomal dominant optic atrophy plus syndrome autosomal dominant optic atrophy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014720 MONDO:0044970 False autosomal dominant optic atrophy plus syndrome mitochondrial disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014722 MONDO:0002254 False Roifman syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014722 MONDO:0005046 False Roifman syndrome immune system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -23656,52 +26807,26 @@ MONDO:0014722 MONDO:0016761 False Roifman syndrome spondyloepiphyseal dysplasia MONDO:0014722 MONDO:0800063 False Roifman syndrome primordial dwarfism and slender bone disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014723 MONDO:0002254 False PMP22-RAI1 contiguous gene duplication syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014723 MONDO:0003847 False PMP22-RAI1 contiguous gene duplication syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014723 MONDO:0016967 False PMP22-RAI1 contiguous gene duplication syndrome partial duplication of the long arm of chromosome 17 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014725 MONDO:0018162 False spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome neurometabolic disorder due to serine deficiency UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014726 MONDO:0018993 False Charcot-Marie-Tooth disease axonal type 2X Charcot-Marie-Tooth disease type 2 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0014729 MONDO:0015150 False hereditary spastic paraplegia 75 complex hereditary spastic paraplegia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014731 MONDO:0015286 False seizures-scoliosis-macrocephaly syndrome congenital disorder of glycosylation UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014733 MONDO:0016387 False Charcot-Marie-Tooth disease type 4K mitochondrial oxidative phosphorylation disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014733 MONDO:0018995 False Charcot-Marie-Tooth disease type 4K Charcot-Marie-Tooth disease type 4 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0014734 MONDO:0020573 False epilepsy, idiopathic generalized, susceptibility to, 14 inherited disease susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014735 MONDO:0018993 False Charcot-Marie-Tooth disease type 2Y Charcot-Marie-Tooth disease type 2 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0014736 MONDO:0018993 False Charcot-Marie-Tooth disease axonal type 2Z Charcot-Marie-Tooth disease type 2 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0014737 MONDO:0003689 False dehydrated hereditary stomatocytosis 2 familial hemolytic anemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0014737 MONDO:0017910 False dehydrated hereditary stomatocytosis 2 dehydrated hereditary stomatocytosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0014741 MONDO:0003847 False DeSanto-Shinawi syndrome due to WAC point mutation hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014741 MONDO:0018760 False DeSanto-Shinawi syndrome due to WAC point mutation DeSanto-Shinawi syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014742 MONDO:0008199 False Parkinson disease 22, autosomal dominant late-onset Parkinson disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS MONDO:0014743 MONDO:0100265 False rhizomelic chondrodysplasia punctata type 5 peroxisome biogenesis disorder due to PEX5 defect in the PEX7-binding domain UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014744 MONDO:0002254 False acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0014744 MONDO:0020047 False acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome autosomal recessive syndromic cerebellar ataxia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014744 MONDO:0020683 False acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome acute disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014745 MONDO:0020344 False congenital myasthenic syndrome 19 postsynaptic congenital myasthenic syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014746 MONDO:0002320 False SLC39A8-CDG congenital nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0014746 MONDO:0015159 False SLC39A8-CDG multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014746 MONDO:0015327 False SLC39A8-CDG developmental anomaly of metabolic origin UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014746 MONDO:0017740 False SLC39A8-CDG disorder of protein N-glycosylation UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014746 MONDO:0020022 False SLC39A8-CDG central nervous system malformation UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014747 MONDO:0002254 False familial progressive retinal dystrophy-iris coloboma-congenital cataract syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014747 MONDO:0003847 False familial progressive retinal dystrophy-iris coloboma-congenital cataract syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014747 MONDO:0024458 False familial progressive retinal dystrophy-iris coloboma-congenital cataract syndrome disorder of visual system UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014748 MONDO:0015159 False progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014748 MONDO:0016761 False progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome spondyloepiphyseal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014751 MONDO:0003847 False palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014751 MONDO:0015159 False palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014752 MONDO:0019006 False nephrotic syndrome, type 11 familial idiopathic steroid-resistant nephrotic syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014755 MONDO:0007990 False skin creases, congenital symmetric circumferential, 2 multiple benign circumferential skin creases on limbs UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0014755 MONDO:0100118 False skin creases, congenital symmetric circumferential, 2 hereditary skin disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014757 MONDO:0002254 False macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014757 MONDO:0009332 False macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome congenital hematological disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014757 MONDO:0015159 False macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014757 MONDO:0018795 False macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome syndromic constitutional thrombocytopenia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014758 MONDO:0100458 False radioulnar synostosis with amegakaryocytic thrombocytopenia 2 MECOM-associated syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014764 MONDO:0002320 False spastic paraplegia-severe developmental delay-epilepsy syndrome congenital nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014764 MONDO:0015150 False spastic paraplegia-severe developmental delay-epilepsy syndrome complex hereditary spastic paraplegia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014764 MONDO:0015159 False spastic paraplegia-severe developmental delay-epilepsy syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014764 MONDO:0015653 False spastic paraplegia-severe developmental delay-epilepsy syndrome monogenic epilepsy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014765 MONDO:0003847 False wooly hair, autosomal recessive 3 hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0014765 MONDO:0008686 False wooly hair, autosomal recessive 3 isolated familial wooly hair disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0014766 MONDO:0003847 False leukodystrophy and acquired microcephaly with or without dystonia; hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014767 MONDO:0800063 False Seckel syndrome 9 primordial dwarfism and slender bone disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014769 MONDO:0003847 False inherited oocyte maturation defect hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -23711,122 +26836,71 @@ MONDO:0014773 MONDO:0000508 False cardiac anomalies - developmental delay - faci MONDO:0014773 MONDO:0002320 False cardiac anomalies - developmental delay - facial dysmorphism syndrome congenital nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014773 MONDO:0003847 False cardiac anomalies - developmental delay - facial dysmorphism syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014773 MONDO:0005267 False cardiac anomalies - developmental delay - facial dysmorphism syndrome heart disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014773 MONDO:0015159 False cardiac anomalies - developmental delay - facial dysmorphism syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014774 MONDO:0015356 False neuroblastoma, susceptibility to, 7 hereditary neoplastic syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014775 MONDO:0016801 False combined oxidative phosphorylation deficiency 28 mitochondrial substrate carrier disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014776 MONDO:0019793 False spinocerebellar ataxia type 42 autosomal dominant cerebellar ataxia type III UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014778 MONDO:0003847 False Lamb-Shaffer syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014781 MONDO:0006025 False combined oxidative phosphorylation deficiency 29 autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0014781 MONDO:0024237 False combined oxidative phosphorylation deficiency 29 inherited neurodegenerative disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014784 MONDO:0005267 False severe hypotonia-psychomotor developmental delay-strabismus-cardiac septal defect syndrome heart disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014784 MONDO:0019952 False severe hypotonia-psychomotor developmental delay-strabismus-cardiac septal defect syndrome congenital myopathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING -MONDO:0014785 MONDO:0800450 False microcephaly, short stature, and impaired glucose metabolism 2 microcephaly, short stature, and impaired glucose metabolism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0014786 MONDO:0020573 False IgA nephropathy, susceptibility to, 3 inherited disease susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014787 MONDO:0002320 False severe intellectual disability-corpus callosum agenesis-facial dysmorphism-cerebellar ataxia syndrome congenital nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014787 MONDO:0003847 False severe intellectual disability-corpus callosum agenesis-facial dysmorphism-cerebellar ataxia syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014787 MONDO:0015159 False severe intellectual disability-corpus callosum agenesis-facial dysmorphism-cerebellar ataxia syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014787 MONDO:0020022 False severe intellectual disability-corpus callosum agenesis-facial dysmorphism-cerebellar ataxia syndrome central nervous system malformation UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014788 MONDO:0016333 False autosomal recessive limb-girdle muscular dystrophy type 2W familial dilated cardiomyopathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING -MONDO:0014789 MONDO:0017749 False CCDC115-CDG disorder of multiple glycosylation UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014790 MONDO:0017749 False TMEM199-CDG disorder of multiple glycosylation UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014791 MONDO:0002254 False Luscan-Lumish syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014791 MONDO:0003847 False Luscan-Lumish syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014793 MONDO:0019240 False microcephaly-congenital cataract-psoriasiform dermatitis syndrome sterol biosynthesis disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014795 MONDO:0003847 False exercise intolerance, riboflavin-responsive hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014796 MONDO:0017279 False autosomal recessive early-onset Parkinson disease 23 young-onset Parkinson disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0014798 MONDO:0021004 False brachydactyly type A1D brachydactyly UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0014799 MONDO:0011060 False cataract 45 early-onset non-syndromic cataract UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING -MONDO:0014800 MONDO:0016106 False progressive scapulohumeroperoneal distal myopathy progressive muscular dystrophy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014800 MONDO:0100084 False progressive scapulohumeroperoneal distal myopathy alpha-actinopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014801 MONDO:0002254 False even-plus syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014801 MONDO:0015161 False even-plus syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014801 MONDO:0016761 False even-plus syndrome spondyloepiphyseal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014803 MONDO:0017845 False spasticity-ataxia-gait anomalies syndrome spastic ataxia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING -MONDO:0014803 MONDO:0018424 False spasticity-ataxia-gait anomalies syndrome inherited lipoic acid biosynthesis defect UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014804 MONDO:0016801 False sideroblastic anemia 3 mitochondrial substrate carrier disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014804 MONDO:0016828 False sideroblastic anemia 3 autosomal recessive sideroblastic anemia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014805 MONDO:0016894 False Hao-Fountain syndrome partial deletion of the short arm of chromosome 16 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014805 MONDO:0100500 False Hao-Fountain syndrome Mendelian neurodevelopmental disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014808 MONDO:0015170 False congenital secretory sodium diarrhea 8 congenital sodium diarrhea UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014808 MONDO:0045032 False congenital secretory sodium diarrhea 8 congenital secretory diarrhea UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014809 MONDO:0015356 False DDX41-related hematologic malignancy predisposition syndrome hereditary neoplastic syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014811 MONDO:0100500 False cerebellar atrophy, visual impairment, and psychomotor retardation; Mendelian neurodevelopmental disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014811 MONDO:0100516 False cerebellar atrophy, visual impairment, and psychomotor retardation; complex neurodevelopmental disorder with motor features UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014816 MONDO:0003847 False split-foot malformation-mesoaxial polydactyly syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014816 MONDO:0015161 False split-foot malformation-mesoaxial polydactyly syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014816 MONDO:0018234 False split-foot malformation-mesoaxial polydactyly syndrome dysostosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014816 MONDO:0019054 False split-foot malformation-mesoaxial polydactyly syndrome congenital limb malformation UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014817 MONDO:0019006 False nephrotic syndrome, type 12 familial idiopathic steroid-resistant nephrotic syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014818 MONDO:0019006 False nephrotic syndrome, type 13 familial idiopathic steroid-resistant nephrotic syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014819 MONDO:0008389 False autosomal dominant Robinow syndrome 3 autosomal dominant Robinow syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014821 MONDO:0018230 False complex lethal osteochondrodysplasia skeletal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014822 MONDO:0016913 False 15q14 microdeletion syndrome partial deletion of the long arm of chromosome 15 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014825 MONDO:0016893 False chromosome 11p13 deletion syndrome, distal partial deletion of the short arm of chromosome 11 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014827 MONDO:0015150 False autosomal recessive spastic paraplegia type 76 complex hereditary spastic paraplegia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014831 MONDO:0023603 False progeroid and marfanoid aspect-lipodystrophy syndrome hereditary disorder of connective tissue UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014832 MONDO:0000508 False intellectual disability, autosomal recessive 53 syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014832 MONDO:0002320 False intellectual disability, autosomal recessive 53 congenital nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014832 MONDO:0015905 False intellectual disability, autosomal recessive 53 syndromic dyslipidemia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014832 MONDO:0017748 False intellectual disability, autosomal recessive 53 inborn disorder of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014833 MONDO:0003847 False heart and brain malformation syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014836 MONDO:0018993 False Charcot-Marie-Tooth disease axonal type 2CC Charcot-Marie-Tooth disease type 2 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0014837 MONDO:0018795 False thrombocytopenia 6 syndromic constitutional thrombocytopenia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014837 MONDO:0020076 False thrombocytopenia 6 myeloproliferative neoplasm UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014837 MONDO:0023603 False thrombocytopenia 6 hereditary disorder of connective tissue UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014838 MONDO:0700120 False Coffin-Siris syndrome 5 BAFopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014839 MONDO:0003847 False chorea, childhood-onset, with psychomotor retardation hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014840 MONDO:0011096 False agammaglobulinemia 8, autosomal dominant autosomal agammaglobulinemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014842 MONDO:0015802 False intellectual disability, autosomal dominant 41 autosomal dominant non-syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0014846 MONDO:0018446 False spinocerebellar ataxia, autosomal recessive 23 autosomal recessive cerebellar ataxia - epilepsy - intellectual disability syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014848 MONDO:0002320 False TELO2-related intellectual disability-neurodevelopmental disorder congenital nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014848 MONDO:0003847 False TELO2-related intellectual disability-neurodevelopmental disorder hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014848 MONDO:0015159 False TELO2-related intellectual disability-neurodevelopmental disorder multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014848 MONDO:0015160 False TELO2-related intellectual disability-neurodevelopmental disorder multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014848 MONDO:0016908 False TELO2-related intellectual disability-neurodevelopmental disorder partial monosomy of the long arm of chromosome 9 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014848 MONDO:0019054 False TELO2-related intellectual disability-neurodevelopmental disorder congenital limb malformation UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014848 MONDO:0020022 False TELO2-related intellectual disability-neurodevelopmental disorder central nervous system malformation UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014850 MONDO:0003847 False retinitis pigmentosa and erythrocytic microcytosis hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014855 MONDO:0015802 False intellectual disability, autosomal dominant 42 autosomal dominant non-syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0014857 MONDO:0100500 False neurodevelopmental disorder with or without anomalies of the brain, eye, or heart Mendelian neurodevelopmental disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014858 MONDO:0015802 False intellectual disability, autosomal dominant 43 autosomal dominant non-syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0014862 MONDO:0100500 False cerebral palsy, spastic quadriplegic, 3 Mendelian neurodevelopmental disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014862 MONDO:0100516 False cerebral palsy, spastic quadriplegic, 3 complex neurodevelopmental disorder with motor features UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014863 MONDO:0003847 False macrocephaly, dysmorphic facies, and psychomotor retardation hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014864 MONDO:0005071 False hypermanganesemia with dystonia 2 nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0014864 MONDO:0006025 False hypermanganesemia with dystonia 2 autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0014864 MONDO:0017766 False hypermanganesemia with dystonia 2 disorder of manganese transport UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014865 MONDO:0028226 False autosomal recessive severe congenital neutropenia due to CSF3R deficiency autosomal recessive severe congenital neutropenia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014866 MONDO:0018993 False Charcot-Marie-Tooth disease axonal type 2T Charcot-Marie-Tooth disease type 2 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0014869 MONDO:0016387 False hydrops-lactic acidosis-sideroblastic anemia-multisystemic failure syndrome mitochondrial oxidative phosphorylation disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014870 MONDO:0015929 False NEK9-related lethal skeletal dysplasia thoracic malformation UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014870 MONDO:0019691 False NEK9-related lethal skeletal dysplasia short rib dysplasia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014873 MONDO:0005073 False nevus comedonicus syndrome melanocytic nevus UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014873 MONDO:0100118 False nevus comedonicus syndrome hereditary skin disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014874 MONDO:0016759 False pontocerebellar hypoplasia, type 2F pontocerebellar hypoplasia type 2 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0014881 MONDO:0005267 False transketolase deficiency heart disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014881 MONDO:0015159 False transketolase deficiency multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014881 MONDO:0015327 False transketolase deficiency developmental anomaly of metabolic origin UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014881 MONDO:0019231 False transketolase deficiency inborn disorder of pentose phosphate metabolism UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014882 MONDO:0016387 False hereditary spastic paraplegia 77 mitochondrial oxidative phosphorylation disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014886 MONDO:0015159 False severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014886 MONDO:0019289 False severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome hyperpigmentation of the skin UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014886 MONDO:0100118 False severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome hereditary skin disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014888 MONDO:0002254 False MIRAGE syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014888 MONDO:0003847 False MIRAGE syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014889 MONDO:0044807 False striatonigral degeneration, childhood-onset inherited dystonia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0014891 MONDO:0100337 False hyperuricemic nephropathy, familial juvenile type 4 SEC61A1 deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014892 MONDO:0000508 False micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0014892 MONDO:0002320 False micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome congenital nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0014892 MONDO:0015159 False micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014893 MONDO:0100500 False Okur-Chung neurodevelopmental syndrome Mendelian neurodevelopmental disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014895 MONDO:0018097 False developmental and epileptic encephalopathy, 40 West syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0014896 MONDO:0019950 False congenital muscular dystrophy-respiratory failure-skin abnormalities-joint hyperlaxity syndrome congenital muscular dystrophy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014898 MONDO:0016810 False progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 3 autosomal recessive progressive external ophthalmoplegia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014902 MONDO:0015356 False nasopharyngeal carcinoma, susceptibility to, 3 hereditary neoplastic syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014905 MONDO:0100198 False encephalopathy due to defective mitochondrial and peroxisomal fission 2 Mendelian encephalopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014911 MONDO:0002254 False growth retardation, intellectual developmental disorder, hypotonia, and hepatopathy syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014911 MONDO:0006025 False growth retardation, intellectual developmental disorder, hypotonia, and hepatopathy autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014912 MONDO:0005046 False infantile-onset periodic fever-panniculitis-dermatosis syndrome immune system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0014912 MONDO:0017953 False infantile-onset periodic fever-panniculitis-dermatosis syndrome hereditary periodic fever syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014914 MONDO:0700120 False Dias-Logan syndrome BAFopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014915 MONDO:0009032 False short-rib thoracic dysplasia 16 with or without polydactyly cranioectodermal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0014916 MONDO:0016022 False developmental and epileptic encephalopathy, 41 early myoclonic encephalopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS @@ -23836,7 +26910,6 @@ MONDO:0014917 MONDO:0018614 False developmental and epileptic encephalopathy, 42 MONDO:0014917 MONDO:0100254 False developmental and epileptic encephalopathy, 42 CACNA1A-related complex neurodevelopmental disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014917 MONDO:0100455 False developmental and epileptic encephalopathy, 42 neonatal-onset developmental and epileptic encephalopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014918 MONDO:0003847 False tall stature-intellectual disability-renal anomalies syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014918 MONDO:0015159 False tall stature-intellectual disability-renal anomalies syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014919 MONDO:0015524 False sessile serrated polyposis cancer syndrome hyperplastic polyposis syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014921 MONDO:0016532 False developmental and epileptic encephalopathy, 43 Lennox-Gastaut syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS MONDO:0014923 MONDO:0017339 False peeling skin syndrome 5 exfoliative ichthyosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -23846,7 +26919,6 @@ MONDO:0014933 MONDO:0018614 False developmental and epileptic encephalopathy, 44 MONDO:0014933 MONDO:0100455 False developmental and epileptic encephalopathy, 44 neonatal-onset developmental and epileptic encephalopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014934 MONDO:0020380 False spinocerebellar ataxia, autosomal recessive 24 autosomal dominant cerebellar ataxia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS MONDO:0014936 MONDO:0003847 False ZTTK syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014936 MONDO:0015159 False ZTTK syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014937 MONDO:0002466 False aniridia 2 eye carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014937 MONDO:0002658 False aniridia 2 iris cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014937 MONDO:0003008 False aniridia 2 hereditary renal cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -23861,9 +26933,6 @@ MONDO:0014942 MONDO:0018614 False developmental and epileptic encephalopathy, 45 MONDO:0014942 MONDO:0100455 False developmental and epileptic encephalopathy, 45 neonatal-onset developmental and epileptic encephalopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014944 MONDO:0000508 False short stature-brachydactyly-obesity-global developmental delay syndrome syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014944 MONDO:0002320 False short stature-brachydactyly-obesity-global developmental delay syndrome congenital nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014944 MONDO:0015159 False short stature-brachydactyly-obesity-global developmental delay syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014944 MONDO:0019695 False short stature-brachydactyly-obesity-global developmental delay syndrome acromelic dysplasia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014945 MONDO:0018949 False myopathy, distal, with rimmed vacuoles distal myopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS MONDO:0014945 MONDO:0800464 False myopathy, distal, with rimmed vacuoles SQSTM1-related multisystem proteinopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014946 MONDO:0003847 False Sifrim-Hitz-Weiss syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014947 MONDO:0018614 False developmental and epileptic encephalopathy, 46 undetermined early-onset epileptic encephalopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -23873,7 +26942,6 @@ MONDO:0014949 MONDO:0018614 False developmental and epileptic encephalopathy, 47 MONDO:0014949 MONDO:0100455 False developmental and epileptic encephalopathy, 47 neonatal-onset developmental and epileptic encephalopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014952 MONDO:0002254 False intellectual disability-epilepsy-extrapyramidal syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014952 MONDO:0003847 False intellectual disability-epilepsy-extrapyramidal syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014953 MONDO:0006025 False gnb5-related intellectual disability-cardiac arrhythmia syndrome autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0014954 MONDO:0007527 False Ehlers-Danlos syndrome, periodontal type 2 Ehlers-Danlos syndrome, periodontitis type UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014955 MONDO:0009979 False RCBTB1-related retinopathy reticular dystrophy of the retinal pigment epithelium UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0014956 MONDO:0003847 False Chitayat syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -23883,20 +26951,14 @@ MONDO:0014960 MONDO:0024237 False encephalopathy, progressive, early-onset, with MONDO:0014960 MONDO:0100198 False encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy Mendelian encephalopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014963 MONDO:0003847 False Shashi-Pena syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014968 MONDO:0100198 False encephalopathy, progressive, with amyotrophy and optic atrophy Mendelian encephalopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014969 MONDO:0019231 False isolated sedoheptulokinase deficiency inborn disorder of pentose phosphate metabolism UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014971 MONDO:0015048 False amelogenesis imperfecta, hypomaturation type, IIa6 amelogenesis imperfecta type 2 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014972 MONDO:0013090 False chromosome 19q13.11 deletion syndrome, proximal chromosome 19q13.11 deletion syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014973 MONDO:0003847 False sudden cardiac failure, infantile hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014974 MONDO:0003847 False sudden cardiac failure, alcohol-induced hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014975 MONDO:0006025 False autosomal recessive spastic paraplegia type 78 autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0014975 MONDO:0015150 False autosomal recessive spastic paraplegia type 78 complex hereditary spastic paraplegia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014976 MONDO:0005267 False lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome heart disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0014977 MONDO:0002320 False autosomal recessive limb-girdle muscular dystrophy type 2R1 congenital nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0014977 MONDO:0017741 False autosomal recessive limb-girdle muscular dystrophy type 2R1 disorder of protein O-glycosylation UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014979 MONDO:0003847 False myoclonus, intractable, neonatal hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014980 MONDO:0003847 False cone-rod dystrophy and hearing loss hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014981 MONDO:0003778 False immunodeficiency 49 inborn error of immunity UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0014981 MONDO:0031520 False immunodeficiency 49 familial severe combined immunodeficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0014984 MONDO:0003847 False lung disease, immunodeficiency, and chromosome breakage syndrome; hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014989 MONDO:0003847 False uncombable hair syndrome 2 hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014989 MONDO:0008621 False uncombable hair syndrome 2 uncombable hair syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -23907,128 +26969,62 @@ MONDO:0014994 MONDO:0003847 False global developmental delay, absent or hypoplas MONDO:0014995 MONDO:0100500 False neurodevelopmental disorder with hypotonia, seizures, and absent language Mendelian neurodevelopmental disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014998 MONDO:0020366 False glaucoma 3, primary congenital, E congenital glaucoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014998 MONDO:0800182 False glaucoma 3, primary congenital, E TEK-related primary glaucoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015003 MONDO:0018424 False dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities inherited lipoic acid biosynthesis defect UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015003 MONDO:0024237 False dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities inherited neurodegenerative disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015005 MONDO:0009945 False epilepsy, early-onset, vitamin B6-dependent pyridoxine-dependent epilepsy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0015006 MONDO:0000426 False epidermolysis bullosa simplex 6, generalized, with scarring and hair loss autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015007 MONDO:0015087 False spastic paraplegia, intellectual disability, nystagmus, and obesity autosomal dominant complex spastic paraplegia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015008 MONDO:0015047 False amelogenesis imperfecta, type 1J amelogenesis imperfecta type 1 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015009 MONDO:0700080 False lymphatic malformation 7 EPHB4-associated vascular malformation spectrum UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015010 MONDO:0011612 False atypical glycine encephalopathy glycine encephalopathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0015012 MONDO:0005087 False mucopolysaccharidosis-plus syndrome respiratory system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015012 MONDO:0015159 False mucopolysaccharidosis-plus syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015012 MONDO:0015327 False mucopolysaccharidosis-plus syndrome developmental anomaly of metabolic origin UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015012 MONDO:0100365 False mucopolysaccharidosis-plus syndrome mucopolysaccharidosis or mucopolysaccharidosis-like disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015012 MONDO:0800088 False mucopolysaccharidosis-plus syndrome lysosomal storage disease with skeletal involvement UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015014 MONDO:0003847 False coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, and deafness hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015016 MONDO:0800472 False anterior segment dysgenesis 6 CYP1B1-related glaucoma with or without anterior segment dysgenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015019 MONDO:0003847 False Yao syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015021 MONDO:0003847 False hypotonia, ataxia, and delayed development syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0015022 MONDO:0000508 False intellectual developmental disorder with dysmorphic facies and ptosis syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015022 MONDO:0003847 False intellectual developmental disorder with dysmorphic facies and ptosis hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015027 MONDO:0016365 False familial isolated hyperparathyroidism familial primary hyperparathyroidism UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015028 MONDO:0017975 False 48,XXYY syndrome sex chromosome disorder of sex development UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015029 MONDO:0015031 False reticular perineurioma extraneural perineurioma UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015030 MONDO:0015031 False sclerosing perineurioma extraneural perineurioma UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015031 MONDO:0019404 False extraneural perineurioma perineurioma UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015027 MONDO:0015356 False familial isolated hyperparathyroidism hereditary neoplastic syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015028 MONDO:0002254 False 48,XXYY syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015033 MONDO:0011583 False ABeta amyloidosis, dutch type cerebral amyloid angiopathy, APP-related UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015034 MONDO:0019450 False lissencephaly with cerebellar hypoplasia type A lissencephaly with cerebellar hypoplasia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015035 MONDO:0019450 False lissencephaly with cerebellar hypoplasia type B lissencephaly with cerebellar hypoplasia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015036 MONDO:0019450 False lissencephaly with cerebellar hypoplasia type C lissencephaly with cerebellar hypoplasia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015037 MONDO:0019450 False lissencephaly with cerebellar hypoplasia type D lissencephaly with cerebellar hypoplasia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015038 MONDO:0019450 False lissencephaly with cerebellar hypoplasia type E lissencephaly with cerebellar hypoplasia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015039 MONDO:0019450 False lissencephaly with cerebellar hypoplasia type F lissencephaly with cerebellar hypoplasia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015042 MONDO:0005615 False primary plasmacytoma of the bone plasmacytoma UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015043 MONDO:0005615 False extramedullary soft tissue plasmacytoma plasmacytoma UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015047 MONDO:0019507 False amelogenesis imperfecta type 1 amelogenesis imperfecta UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015048 MONDO:0019507 False amelogenesis imperfecta type 2 amelogenesis imperfecta UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015049 MONDO:0024477 False solitary necrotic nodule of the liver liver and intrahepatic bile duct neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015050 MONDO:0003749 False esophageal duplication cyst esophageal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015051 MONDO:0003749 False tubular duplication of the esophagus esophageal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015053 MONDO:0033946 False hereditary angioedema type 1 hereditary angioedema with C1Inh deficiency UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015054 MONDO:0033946 False hereditary angioedema type 2 hereditary angioedema with C1Inh deficiency UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015055 MONDO:0019624 False acquired angioedema type 2 acquired angioedema UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015056 MONDO:0019624 False acquired angioedema type 1 acquired angioedema UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015057 MONDO:0019624 False renin-angiotensin-aldosterone system-blocker-induced angioedema acquired angioedema UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015059 MONDO:0005395 False progressive non-fluent aphasia movement disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015059 MONDO:0011842 False progressive non-fluent aphasia GRN-related frontotemporal lobar degeneration with Tdp43 inclusions UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015060 MONDO:0700010 False mosaic trisomy 3 chromosome 3 disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015060 MONDO:0700065 False mosaic trisomy 3 trisomy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015061 MONDO:0005979 False neurogenic thoracic outlet syndrome thoracic outlet syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015063 MONDO:0024500 False duodenal neuroendocrine tumor, well differentiated, low or intermediate grade duodenal neuroendocrine neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015066 MONDO:0015067 False neuroendocrine tumor of the appendix, well differentiated, low or intermediate grade neuroendocrine tumor of the colon, well differentiated, low or intermediate grade tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015066 MONDO:0018511 False neuroendocrine tumor of the appendix, well differentiated, low or intermediate grade epithelial tumor of the appendix UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015067 MONDO:0024479 False neuroendocrine tumor of the colon, well differentiated, low or intermediate grade tumor epithelial tumor of colon UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015069 MONDO:0015068 False neuroendocrine tumor of the anal canal neuroendocrine tumor of rectum, well differentiated, low or intermediate grade UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015071 MONDO:0019496 False middle ear neuroendocrine tumor neuroendocrine neoplasm UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015070 MONDO:0024623 False laryngeal neuroendocrine neoplasm otorhinolaryngologic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015071 MONDO:0021366 False middle ear neuroendocrine tumor neoplasm of middle ear UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015073 MONDO:0021385 False gallbladder neuroendocrine tumor, grade 1/2 extrahepatic bile duct neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015074 MONDO:0002082 False thyroid tumor endocrine gland neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015079 MONDO:0015126 False multiple polyglandular tumor polyendocrinopathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015082 MONDO:0004907 False alopecia antibody deficiency alopecia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015084 MONDO:0002254 False FRAXF syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015084 MONDO:0003847 False FRAXF syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015085 MONDO:0017265 False bathing suit ichthyosis autosomal recessive congenital ichthyosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015086 MONDO:0015338 False cloverleaf skull-asphyxiating thoracic dysplasia syndrome syndromic craniosynostosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015087 MONDO:0000426 False autosomal dominant complex spastic paraplegia autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015087 MONDO:0015150 False autosomal dominant complex spastic paraplegia complex hereditary spastic paraplegia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015092 MONDO:0016064 False cleft hard palate cleft palate UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015093 MONDO:0016292 False sub-cortical nodular heterotopia nodular neuronal heterotopia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015094 MONDO:0016292 False subependymal nodular heterotopia nodular neuronal heterotopia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015095 MONDO:0011414 False Peters anomaly-cataract syndrome Peters anomaly UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015096 MONDO:0008737 False familial hypofibrinogenemia congenital afibrinogenemia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015097 MONDO:0017735 False aortic valve dysplasia congenital aortic valve stenosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015099 MONDO:0017092 False unilateral hemispheric polymicrogyria unilateral polymicrogyria UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015100 MONDO:0019453 False aregenerative anemia myelodysplastic syndrome with multilineage dysplasia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015101 MONDO:0007946 False Marin-Amat syndrome jaw-winking syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015103 MONDO:0020064 False pulmonary valve agenesis-tetralogy of fallot-absence of ductus arteriosus syndrome pulmonary valve agenesis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015104 MONDO:0002520 False porphyria cutanea tarda hepatic porphyria UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0015104 MONDO:0002406 False porphyria cutanea tarda dermatitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0015109 MONDO:0003767 False congenital anomaly of the mitral subvalvular apparatus mitral valve disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015109 MONDO:0019817 False congenital anomaly of the mitral subvalvular apparatus congenital mitral valve insufficiency and/or stenosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015126 MONDO:0005151 False polyendocrinopathy endocrine system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015127 MONDO:0005151 False pituitary deficiency endocrine system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015128 MONDO:0005495 False primary adrenal insufficiency adrenal gland disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015131 MONDO:0021094 False combined immunodeficiency immunodeficiency disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015134 MONDO:0001475 False constitutional neutropenia neutropenia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015137 MONDO:0019751 False periodic fever syndrome autoinflammatory syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015134 MONDO:0009332 False constitutional neutropenia congenital hematological disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015140 MONDO:0000426 False early-onset autosomal dominant Alzheimer disease autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015140 MONDO:0015547 False early-onset autosomal dominant Alzheimer disease hereditary dementia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015140 MONDO:0024237 False early-onset autosomal dominant Alzheimer disease inherited neurodegenerative disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015140 MONDO:0100087 False early-onset autosomal dominant Alzheimer disease familial Alzheimer disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015146 MONDO:0018838 False classic lissencephaly lissencephaly spectrum disorders UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015148 MONDO:0018838 False lissencephaly type 3 lissencephaly spectrum disorders UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0015149 MONDO:0019064 False pure hereditary spastic paraplegia hereditary spastic paraplegia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015150 MONDO:0002254 False complex hereditary spastic paraplegia syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015150 MONDO:0019064 False complex hereditary spastic paraplegia hereditary spastic paraplegia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015151 MONDO:0000426 False muscular dystrophy, limb-girdle, autosomal dominant autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0015151 MONDO:0016971 False muscular dystrophy, limb-girdle, autosomal dominant limb-girdle muscular dystrophy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0015152 MONDO:0006025 False autosomal recessive limb-girdle muscular dystrophy autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0015152 MONDO:0016971 False autosomal recessive limb-girdle muscular dystrophy limb-girdle muscular dystrophy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0015157 MONDO:0017341 False human herpesvirus 8-related tumor virus associated tumor UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015158 MONDO:0015137 False unexplained periodic fever syndrome periodic fever syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015159 MONDO:0019042 False multiple congenital anomalies/dysmorphic syndrome-intellectual disability multiple congenital anomalies/dysmorphic syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015161 MONDO:0019042 False multiple congenital anomalies/dysmorphic syndrome without intellectual disability multiple congenital anomalies/dysmorphic syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015164 MONDO:0019457 False acute myeloid leukemia and myelodysplastic syndromes related to alkylating agent therapy related acute myeloid leukemia and myelodysplastic syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015165 MONDO:0019457 False acute myeloid leukemia and myelodysplastic syndromes related to topoisomerase type 2 inhibitor therapy related acute myeloid leukemia and myelodysplastic syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015166 MONDO:0018874 False acute myeloid leukemia with t(8;21)(q22;q22) translocation acute myeloid leukemia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015167 MONDO:0018230 False amniotic band syndrome skeletal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015167 MONDO:0018234 False amniotic band syndrome dysostosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015168 MONDO:0003847 False arthrogryposis multiplex congenita hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0015168 MONDO:0015225 False arthrogryposis multiplex congenita arthrogryposis syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015169 MONDO:0017706 False chronic diarrhea due to glucoamylase deficiency disorder of carbohydrate transmembrane transport and absorption UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015169 MONDO:0044751 False chronic diarrhea due to glucoamylase deficiency chronic diarrheal disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015170 MONDO:0000824 False congenital sodium diarrhea congenital diarrhea UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015171 MONDO:0005020 False congenital enterocyte heparan sulfate deficiency intestinal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015174 MONDO:0019787 False autoimmune enteropathy type 3 autoimmune enteropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015175 MONDO:0000569 False autoimmune pancreatitis autoimmune disorder of endocrine system UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0015175 MONDO:0000588 False autoimmune pancreatitis autoimmune disorder of gastrointestinal tract UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0015175 MONDO:0004982 False autoimmune pancreatitis pancreatitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0015175 MONDO:0017287 False autoimmune pancreatitis IgG4-related disease UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0015176 MONDO:0005265 False undetermined colitis inflammatory bowel disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015177 MONDO:0018230 False metaphyseal anadysplasia skeletal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015183 MONDO:0005020 False short bowel syndrome intestinal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0015185 MONDO:0015356 False intestinal polyposis syndrome hereditary neoplastic syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015191 MONDO:0017574 False myopathic intestinal pseudoobstruction chronic intestinal pseudoobstruction UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015193 MONDO:0019755 False hydrops fetalis developmental defect during embryogenesis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015195 MONDO:0018559 False atresia of urethra fetal lower urinary tract obstruction UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015196 MONDO:0001256 False vein of Galen aneurysm arteriovenous hemangioma/malformation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015196 MONDO:0003948 False vein of Galen aneurysm cerebral hemangioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015196 MONDO:0004634 False vein of Galen aneurysm vein disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -24040,97 +27036,47 @@ MONDO:0015199 MONDO:0003847 False aniridia - intellectual disability syndrome he MONDO:0015200 MONDO:0005656 False anisakiasis Ascaridida infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015200 MONDO:0024271 False anisakiasis intestinal helminthiasis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015201 MONDO:0002254 False ankyloblepharon filiforme-imperforate anus syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015201 MONDO:0019755 False ankyloblepharon filiforme-imperforate anus syndrome developmental defect during embryogenesis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015201 MONDO:0024458 False ankyloblepharon filiforme-imperforate anus syndrome disorder of visual system UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015203 MONDO:0019512 False coronary artery congenital malformation congenital heart malformation UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015204 MONDO:0018838 False microlissencephaly lissencephaly spectrum disorders UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0015205 MONDO:0015146 False isolated lissencephaly type 1 without known genetic defects classic lissencephaly UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015206 MONDO:0015160 False short stature-heart defect-craniofacial anomalies syndrome multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015225 MONDO:0019054 False arthrogryposis syndrome congenital limb malformation UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015228 MONDO:0002254 False pentasomy X syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015228 MONDO:0700027 False pentasomy X chromosome X disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015228 MONDO:0700085 False pentasomy X pentasomy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015229 MONDO:0005308 False Bardet-Biedl syndrome ciliopathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0015229 MONDO:0006025 False Bardet-Biedl syndrome autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0015230 MONDO:0002254 False anophthalmia-megalocornea-cardiopathy-skeletal anomalies syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015230 MONDO:0015161 False anophthalmia-megalocornea-cardiopathy-skeletal anomalies syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015231 MONDO:0006510 False Bartter syndrome renal tubular transport disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0015231 MONDO:0015962 False Bartter syndrome inherited renal tubular disease UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015231 MONDO:0002254 False Bartter syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0015232 MONDO:0003847 False radial deficiency-tibial hypoplasia syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015232 MONDO:0018234 False radial deficiency-tibial hypoplasia syndrome dysostosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015232 MONDO:0019054 False radial deficiency-tibial hypoplasia syndrome congenital limb malformation UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015233 MONDO:0015159 False caudal appendage-deafness syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015234 MONDO:0015159 False arachnodactyly-abnormal ossification-intellectual disability syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015235 MONDO:0015160 False arachnodactyly-intellectual disability-dysmorphism syndrome multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015236 MONDO:0020292 False aortic arch defects congenital anomaly of the great arteries UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015236 MONDO:0022606 False aortic arch defects branchial arch disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015237 MONDO:0024623 False arrhinia otorhinolaryngologic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015238 MONDO:0015161 False arrhinia-choanal atresia-microphthalmia syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015239 MONDO:0016581 False abnormal origin of the pulmonary artery conotruncal heart malformations UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015240 MONDO:0015161 False digitotalar dysmorphism multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015240 MONDO:0019942 False digitotalar dysmorphism distal arthrogryposis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0015241 MONDO:0015168 False arthrogryposis-like syndrome arthrogryposis multiplex congenita UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015243 MONDO:0000771 False allergic bronchopulmonary aspergillosis allergic respiratory disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0015244 MONDO:0006025 False autosomal recessive cerebellar ataxia autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0015244 MONDO:0100310 False autosomal recessive cerebellar ataxia hereditary cerebellar ataxia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015247 MONDO:0005395 False opsoclonus-myoclonus syndrome movement disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015247 MONDO:0018215 False opsoclonus-myoclonus syndrome paraneoplastic neurologic syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015248 MONDO:0002320 False ataxia-photosensitivity-short stature syndrome congenital nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015248 MONDO:0015159 False ataxia-photosensitivity-short stature syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015248 MONDO:0100309 False ataxia-photosensitivity-short stature syndrome hereditary ataxia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015249 MONDO:0019817 False mitral atresia disorder congenital mitral valve insufficiency and/or stenosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015250 MONDO:0016113 False spinal atrophy-ophthalmoplegia-pyramidal syndrome bulbospinal muscular atrophy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015249 MONDO:0003767 False mitral atresia disorder mitral valve disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015249 MONDO:0005453 False mitral atresia disorder congenital heart disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015252 MONDO:0002320 False severe microbrachycephaly-intellectual disability-athetoid cerebral palsy syndrome congenital nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015252 MONDO:0015159 False severe microbrachycephaly-intellectual disability-athetoid cerebral palsy syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015252 MONDO:0100309 False severe microbrachycephaly-intellectual disability-athetoid cerebral palsy syndrome hereditary ataxia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015253 MONDO:0001713 False Diamond-Blackfan anemia inherited aplastic anemia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0015254 MONDO:0004664 False schistosomiasis helminthiasis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0015253 MONDO:0001705 False Diamond-Blackfan anemia pure red-cell aplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0015254 MONDO:0100120 False schistosomiasis vector-borne disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015257 MONDO:0007263 False sino-auricular heart block cardiac rhythm disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015259 MONDO:0015159 False brachydactyly-mesomelia-intellectual disability-heart defects syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015260 MONDO:0042488 False diphyllobothriasis Cestode infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015261 MONDO:0004907 False pseudopelade of Brocq alopecia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015262 MONDO:0005516 False brachyolmia osteochondrodysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0015262 MONDO:0019694 False brachyolmia spondylodysplastic dysplasia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015263 MONDO:0000992 False Brugada syndrome heart conduction disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0015263 MONDO:0003847 False Brugada syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0015264 MONDO:0002429 False cryptogenic organizing pneumonia idiopathic interstitial pneumonia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0015263 MONDO:0002254 False Brugada syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0015265 MONDO:0002465 False bronchiolitis obliterans syndrome bronchiolitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0015265 MONDO:0015925 False bronchiolitis obliterans syndrome interstitial lung disease UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0015267 MONDO:0000426 False Feingold syndrome autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0015268 MONDO:0002473 False medullary sponge kidney cystic kidney disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015268 MONDO:0021147 False medullary sponge kidney disorder of development or morphogenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015269 MONDO:0005071 False symmetrical thalamic calcifications nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015270 MONDO:0019253 False butyrylcholinesterase deficiency metabolic disease involving other neurotransmitter deficiency UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015271 MONDO:0016105 False idiopathic camptocormia acquired skeletal muscle disease UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015271 MONDO:0700007 False idiopathic camptocormia idiopathic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015272 MONDO:0019054 False camptodactyly-taurinuria syndrome congenital limb malformation UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015273 MONDO:0020290 False complete atrioventricular canal familial atrioventricular septal defect UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015274 MONDO:0015926 False chronic beryllium disease pneumoconiosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0015275 MONDO:0020290 False partial atrioventricular canal familial atrioventricular septal defect UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015277 MONDO:0005034 False medullary thyroid gland carcinoma thyroid gland follicular carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0015278 MONDO:0003847 False familial pancreatic carcinoma hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015279 MONDO:0003778 False chronic mucocutaneous candidiasis inborn error of immunity UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0015279 MONDO:0100118 False chronic mucocutaneous candidiasis hereditary skin disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015280 MONDO:0015159 False cardiofaciocutaneous syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015280 MONDO:0019287 False cardiofaciocutaneous syndrome ectodermal dysplasia syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS -MONDO:0015280 MONDO:0020297 False cardiofaciocutaneous syndrome Noonan syndrome and Noonan-related syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015281 MONDO:0016340 False atrial standstill familial restrictive cardiomyopathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015282 MONDO:0002254 False cardiomyopathy-cataract-hip spine disease syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015283 MONDO:0044970 False maternally-inherited cardiomyopathy and hearing loss mitochondrial disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015284 MONDO:0015161 False heart-hand syndrome type 2 multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015284 MONDO:0016432 False heart-hand syndrome type 2 heart-hand syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015285 MONDO:0000426 False Carney complex autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0015286 MONDO:0019052 False congenital disorder of glycosylation inborn errors of metabolism UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0015286 MONDO:0024322 False congenital disorder of glycosylation disorder of glycosylation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015288 MONDO:0004609 False herpes simplex virus keratitis herpes simplex infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0015288 MONDO:0020950 False herpes simplex virus keratitis viral eye infection UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015288 MONDO:0023865 False herpes simplex virus keratitis corneal infection UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015289 MONDO:0020950 False infectious epithelial keratitis viral eye infection UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015289 MONDO:0023865 False infectious epithelial keratitis corneal infection UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015290 MONDO:0005328 False neurotrophic keratopathy eye disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015291 MONDO:0015288 False stromal keratitis herpes simplex virus keratitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015292 MONDO:0015288 False endotheliitis herpes simplex virus keratitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015293 MONDO:0005073 False segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndrome melanocytic nevus UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015293 MONDO:0017623 False segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndrome PTEN hamartoma tumor syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015293 MONDO:0019716 False segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndrome overgrowth syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015293 MONDO:0100118 False segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndrome hereditary skin disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015294 MONDO:0005093 False nephrogenic systemic fibrosis skin disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015295 MONDO:0005020 False intractable diarrhea-choanal atresia-eye anomalies syndrome intestinal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -24138,97 +27084,47 @@ MONDO:0015296 MONDO:0005267 False cardiac anomalies-heterotaxy syndrome heart di MONDO:0015298 MONDO:0000942 False pellucid marginal degeneration corneal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015299 MONDO:0002263 False Asherman syndrome female reproductive system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015300 MONDO:0002254 False cataract - microcornea syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015301 MONDO:0019065 False primary cutaneous amyloidosis amyloidosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0015301 MONDO:0021154 False primary cutaneous amyloidosis dermis disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015302 MONDO:0015301 False nodular cutaneous amyloidosis primary cutaneous amyloidosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015303 MONDO:0015301 False macular amyloidosis primary cutaneous amyloidosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015304 MONDO:0004796 False arachnoiditis infectious meningitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0015306 MONDO:0000315 False Lemierre syndrome commensal bacterial infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0015306 MONDO:0005229 False Lemierre syndrome bacterial infectious disease with sepsis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0015307 MONDO:0020128 False Madras motor neuron disease motor neuron disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015308 MONDO:0021187 False laminopathy type Decaudain-Vigouroux hyperlipidemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015311 MONDO:0002254 False autism-facial port-wine stain syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015312 MONDO:0012155 False choanal atresia, unilateral choanal atresia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015313 MONDO:0012155 False choanal atresia, bilateral choanal atresia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015314 MONDO:0004382 False primary laryngeal lymphangioma laryngeal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015315 MONDO:0005071 False neonatal brainstem dysfunction nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015316 MONDO:0002320 False congenital laryngeal palsy congenital nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015316 MONDO:0004382 False congenital laryngeal palsy laryngeal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015317 MONDO:0005586 False laryngotracheal angioma head and neck neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015317 MONDO:0016223 False laryngotracheal angioma infantile hemangioma of rare localization UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015317 MONDO:0024623 False laryngotracheal angioma otorhinolaryngologic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015324 MONDO:0002254 False cataract-intellectual disability-anal atresia-urinary defects syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015324 MONDO:0015159 False cataract-intellectual disability-anal atresia-urinary defects syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015325 MONDO:0002254 False cataract-deafness-hypogonadism syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015325 MONDO:0015159 False cataract-deafness-hypogonadism syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015326 MONDO:0015161 False night blindness-skeletal anomalies-dysmorphism syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015327 MONDO:0005066 False developmental anomaly of metabolic origin metabolic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015327 MONDO:0019755 False developmental anomaly of metabolic origin developmental defect during embryogenesis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015333 MONDO:0019303 False progeroid syndrome premature aging syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015333 MONDO:0019755 False progeroid syndrome developmental defect during embryogenesis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015337 MONDO:0015469 False isolated craniosynostosis craniosynostosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015338 MONDO:0002254 False syndromic craniosynostosis syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015338 MONDO:0015469 False syndromic craniosynostosis craniosynostosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015338 MONDO:0018230 False syndromic craniosynostosis skeletal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015339 MONDO:0018544 False adrenomyeloneuropathy adrenoleukodystrophy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015339 MONDO:0020127 False adrenomyeloneuropathy hereditary peripheral neuropathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015340 MONDO:0005492 False drug rash with eosinophilia and systemic symptoms urticaria UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015340 MONDO:0017396 False drug rash with eosinophilia and systemic symptoms toxic dermatosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015341 MONDO:0005073 False congenital panfollicular nevus melanocytic nevus UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015342 MONDO:0002565 False acute transverse myelitis myelitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015342 MONDO:0020683 False acute transverse myelitis acute disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015344 MONDO:0015342 False idiopathic acute transverse myelitis acute transverse myelitis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015344 MONDO:0700007 False idiopathic acute transverse myelitis idiopathic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015345 MONDO:0020072 False perioral myoclonia with absences childhood-onset epilepsy syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015346 MONDO:0020072 False Jeavons syndrome childhood-onset epilepsy syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015347 MONDO:0002254 False multicentric reticulohistiocytosis syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0015347 MONDO:0015531 False multicentric reticulohistiocytosis non-Langerhans cell histiocytosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0015348 MONDO:0019046 False leukoencephalopathy with bilateral anterior temporal lobe cysts leukodystrophy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015349 MONDO:0019046 False progressive cavitating leukoencephalopathy leukodystrophy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015350 MONDO:0003847 False 17q11.2 microduplication syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015350 MONDO:0016967 False 17q11.2 microduplication syndrome partial duplication of the long arm of chromosome 17 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015351 MONDO:0020127 False neuropathy with hearing impairment hereditary peripheral neuropathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015352 MONDO:0015362 False distal hereditary motor neuropathy type 2 neuronopathy, distal hereditary motor, autosomal dominant UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0015353 MONDO:0100350 False neuronopathy, distal hereditary motor, type 5A neuronopathy, distal hereditary motor, type 5 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0015354 MONDO:0002254 False hereditary sensory and autonomic neuropathy with deafness and global delay syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015354 MONDO:0003847 False hereditary sensory and autonomic neuropathy with deafness and global delay hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015355 MONDO:0015362 False distal hereditary motor neuropathy type 7 neuronopathy, distal hereditary motor, autosomal dominant UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0015356 MONDO:0003847 False hereditary neoplastic syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015356 MONDO:0020573 False hereditary neoplastic syndrome inherited disease susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015356 MONDO:0021058 False hereditary neoplastic syndrome neoplastic syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015356 MONDO:0021074 False hereditary neoplastic syndrome precancerous condition UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015357 MONDO:0001220 False secondary hypoparathyroidism due to impaired parathormon secretion hypoparathyroidism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015358 MONDO:0020127 False hereditary motor and sensory neuropathy hereditary peripheral neuropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015362 MONDO:0000426 False neuronopathy, distal hereditary motor, autosomal dominant autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0015362 MONDO:0001516 False neuronopathy, distal hereditary motor, autosomal dominant spinal muscular atrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0015362 MONDO:0018894 False neuronopathy, distal hereditary motor, autosomal dominant distal hereditary motor neuropathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015363 MONDO:0006025 False neuronopathy, distal hereditary motor, autosomal recessive autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0015363 MONDO:0018894 False neuronopathy, distal hereditary motor, autosomal recessive distal hereditary motor neuropathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015364 MONDO:0002321 False hereditary sensory and autonomic neuropathy sensory peripheral neuropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0015364 MONDO:0020127 False hereditary sensory and autonomic neuropathy hereditary peripheral neuropathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015367 MONDO:0015161 False Charlie M syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015367 MONDO:0017139 False Charlie M syndrome oromandibular-limb hypogenesis syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015369 MONDO:0020043 False Joubert syndrome and related disorders autosomal recessive congenital cerebellar ataxia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015371 MONDO:0021154 False linear atrophoderma of Moulin dermis disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015372 MONDO:0100241 False autosomal dominant macrothrombocytopenia inherited thrombocytopenia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015374 MONDO:0003346 False primary central nervous system vasculitis central nervous system vasculitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015375 MONDO:0003847 False orofaciodigital syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0015375 MONDO:0015498 False orofaciodigital syndrome oromandibular-limb anomalies syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015376 MONDO:0015476 False first branchial cleft anomaly cysts and fistulae of the face and oral cavity UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015377 MONDO:0015476 False third branchial cleft anomaly cysts and fistulae of the face and oral cavity UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015378 MONDO:0015476 False fourth branchial cleft anomaly cysts and fistulae of the face and oral cavity UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015379 MONDO:0002378 False cervical dermoid cyst dermoid cyst UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015379 MONDO:0015476 False cervical dermoid cyst cysts and fistulae of the face and oral cavity UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015379 MONDO:0021351 False cervical dermoid cyst neoplasm of neck UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015380 MONDO:0002378 False facial dermoid cyst dermoid cyst UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015380 MONDO:0005586 False facial dermoid cyst head and neck neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015380 MONDO:0015476 False facial dermoid cyst cysts and fistulae of the face and oral cavity UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015381 MONDO:0006858 False commissural lip fistula mouth disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015381 MONDO:0015476 False commissural lip fistula cysts and fistulae of the face and oral cavity UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015382 MONDO:0004748 False lower lip fistula lip disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015382 MONDO:0015476 False lower lip fistula cysts and fistulae of the face and oral cavity UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015383 MONDO:0015476 False cervicofacial fibrochondroma cysts and fistulae of the face and oral cavity UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015384 MONDO:0001165 False digestive duplication cyst of the tongue tongue disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015384 MONDO:0015476 False digestive duplication cyst of the tongue cysts and fistulae of the face and oral cavity UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015386 MONDO:0005586 False epignathus head and neck neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015386 MONDO:0019500 False epignathus extragonadal teratoma UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015386 MONDO:0024623 False epignathus otorhinolaryngologic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015387 MONDO:0024623 False nasolacrimal duct cyst otorhinolaryngologic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015387 MONDO:0044984 False nasolacrimal duct cyst nasolacrimal duct disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -24237,48 +27133,27 @@ MONDO:0015389 MONDO:0024623 False supernumerary nostril otorhinolaryngologic dis MONDO:0015390 MONDO:0024623 False proboscis lateralis otorhinolaryngologic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015391 MONDO:0002601 False nasopharyngeal teratoma teratoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015391 MONDO:0005375 False nasopharyngeal teratoma nasopharyngeal neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015391 MONDO:0019500 False nasopharyngeal teratoma extragonadal teratoma UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015392 MONDO:0005586 False nasal glial heterotopia head and neck neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015392 MONDO:0024623 False nasal glial heterotopia otorhinolaryngologic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015393 MONDO:0005586 False nasal ganglioglioma head and neck neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015393 MONDO:0016733 False nasal ganglioglioma ganglioglioma UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015393 MONDO:0024623 False nasal ganglioglioma otorhinolaryngologic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015394 MONDO:0016057 False nasal encephalocele isolated encephalocele UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015394 MONDO:0024623 False nasal encephalocele otorhinolaryngologic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015395 MONDO:0004382 False congenital subglottic stenosis laryngeal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015396 MONDO:0004382 False congenital laryngeal cyst laryngeal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015397 MONDO:0007712 False craniofacial microsomia 1 oculoauriculovertebral spectrum with radial defects UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0015397 MONDO:0021635 False craniofacial microsomia 1 neurocristopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015399 MONDO:0017139 False glossopalatine ankylosis oromandibular-limb hypogenesis syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015400 MONDO:0015500 False frontonasal arteriovenous malformation facial arteriovenous malformation UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015401 MONDO:0015500 False maxillary arteriovenous malformation facial arteriovenous malformation UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015402 MONDO:0015500 False mandibular arteriovenous malformation facial arteriovenous malformation UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015405 MONDO:0001256 False cerebrofacial arteriovenous metameric syndrome arteriovenous hemangioma/malformation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015406 MONDO:0015405 False cerebrofacial arteriovenous metameric syndrome type 1 cerebrofacial arteriovenous metameric syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015407 MONDO:0015405 False cerebrofacial arteriovenous metameric syndrome type 3 cerebrofacial arteriovenous metameric syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015408 MONDO:0002013 False diffuse lymphatic malformation lymphangioma UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0015409 MONDO:0021147 False isolated congenital syngnathia disorder of development or morphogenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015409 MONDO:0024623 False isolated congenital syngnathia otorhinolaryngologic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015410 MONDO:0015476 False nasal dorsum fistula/cyst cysts and fistulae of the face and oral cavity UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015411 MONDO:0019755 False facial cleft developmental defect during embryogenesis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015411 MONDO:0023369 False facial cleft disorder of facial skeleton UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015413 MONDO:0015411 False median cleft of the upper lip and maxilla facial cleft UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015414 MONDO:0008866 False paramedian nasal cleft bifid nose, autosomal recessive UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015416 MONDO:0015411 False Tessier number 5 facial cleft facial cleft UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015417 MONDO:0015411 False Tessier number 6 facial cleft facial cleft UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015419 MONDO:0015411 False midline cervical cleft facial cleft UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015420 MONDO:0000358 False cleft lip and alveolus orofacial cleft UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015420 MONDO:0021147 False cleft lip and alveolus disorder of development or morphogenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015421 MONDO:0015375 False orofaciodigital syndrome type 12 orofaciodigital syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015422 MONDO:0015375 False orofaciodigital syndrome type 13 orofaciodigital syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015424 MONDO:0005516 False lethal chondrodysplasia, Moerman type osteochondrodysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015424 MONDO:0018230 False lethal chondrodysplasia, Moerman type skeletal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015425 MONDO:0003847 False lethal recessive chondrodysplasia hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015425 MONDO:0022723 False lethal recessive chondrodysplasia chondrodysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015426 MONDO:0003847 False Desbuquois dysplasia hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0015426 MONDO:0019755 False Desbuquois dysplasia developmental defect during embryogenesis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015427 MONDO:0016058 False paroxysmal dyskinesia paroxysmal dystonia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015428 MONDO:0019287 False choroidal atrophy-alopecia syndrome ectodermal dysplasia syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015429 MONDO:0019118 False choroideremia-hypopituitarism syndrome inherited retinal dystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015430 MONDO:0700008 False ring chromosome 1 chromosome 1 disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015430 MONDO:0700091 False ring chromosome 1 ring chromosome disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -24308,251 +27183,117 @@ MONDO:0015441 MONDO:0700091 False ring chromosome 7 ring chromosome disorder UNS MONDO:0015443 MONDO:0700015 False chromosome 8-derived supernumerary ring/marker chromosome 8 disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015443 MONDO:0700091 False chromosome 8-derived supernumerary ring/marker ring chromosome disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015445 MONDO:0000426 False autosomal dominant coarctation of aorta autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015445 MONDO:0007345 False autosomal dominant coarctation of aorta aorta coarctation UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015446 MONDO:0007345 False atypical coarctation of aorta aorta coarctation UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015448 MONDO:0000066 False mitochondrial complex III deficiency mitochondrial complex deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015449 MONDO:0019512 False criss-cross heart congenital heart malformation UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015450 MONDO:0019512 False triatrial heart congenital heart malformation UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015451 MONDO:0019820 False univentricular heart univentricular cardiopathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015452 MONDO:0003847 False Coffin-Siris syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0015452 MONDO:0005172 False Coffin-Siris syndrome skeletal system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015452 MONDO:0015159 False Coffin-Siris syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015453 MONDO:0000587 False Cogan syndrome autoimmune disease of ear, nose and throat UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0015453 MONDO:0005328 False Cogan syndrome eye disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0015454 MONDO:0019214 False multiple carboxylase deficiency inborn carbohydrate metabolic disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0015454 MONDO:0019215 False multiple carboxylase deficiency classic organic aciduria UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015454 MONDO:0020698 False multiple carboxylase deficiency inborn error of biotin metabolism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015455 MONDO:0004277 False gonococcal conjunctivitis gonorrhea UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015455 MONDO:0006668 False gonococcal conjunctivitis bacterial conjunctivitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015457 MONDO:0002254 False corpus callosum agenesis-double urinary collecting system syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015458 MONDO:0015159 False intellectual disability-hypoplastic corpus callosum-preauricular tag syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015459 MONDO:0017344 False nasopharyngeal carcinoma Epstein-Barr virus-associated carcinoma UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015461 MONDO:0015929 False short rib-polydactyly syndrome thoracic malformation UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015461 MONDO:0019691 False short rib-polydactyly syndrome short rib dysplasia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015462 MONDO:0018230 False thin ribs-tubular bones-dysmorphism syndrome skeletal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015463 MONDO:0015159 False craniodigital syndrome-intellectual disability syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015464 MONDO:0015856 False craniofrontonasal dysplasia-Poland anomaly syndrome syndromic breast hypoplasia/aplasia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015464 MONDO:0016643 False craniofrontonasal dysplasia-Poland anomaly syndrome frontonasal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015461 MONDO:0002254 False short rib-polydactyly syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015465 MONDO:0042973 False craniometaphyseal dysplasia familial osteosclerosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015466 MONDO:0016620 False cranio-osteoarthropathy primary hypertrophic osteoarthropathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015467 MONDO:0015338 False craniosynostosis, Philadelphia type syndromic craniosynostosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015468 MONDO:0015338 False craniosynostosis-cataract syndrome syndromic craniosynostosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015469 MONDO:0001411 False craniosynostosis synostosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0015469 MONDO:0003847 False craniosynostosis hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0015471 MONDO:0020073 False benign focal seizures of adolescence adolescent-onset epilepsy syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015473 MONDO:0015159 False cryptorchidism-arachnodactyly-intellectual disability syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015474 MONDO:0005707 False cryptosporidiosis coccidiosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0015474 MONDO:0024270 False cryptosporidiosis parasitic intestinal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015476 MONDO:0019755 False cysts and fistulae of the face and oral cavity developmental defect during embryogenesis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015476 MONDO:0024623 False cysts and fistulae of the face and oral cavity otorhinolaryngologic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015477 MONDO:0015476 False pinnae fistula or cyst cysts and fistulae of the face and oral cavity UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015479 MONDO:0016064 False submucosal cleft palate cleft palate UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015480 MONDO:0015411 False coloboma of superior eyelid facial cleft UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015480 MONDO:0020357 False coloboma of superior eyelid coloboma of eyelid UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015481 MONDO:0015411 False coloboma of inferior eyelid facial cleft UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015481 MONDO:0020357 False coloboma of inferior eyelid coloboma of eyelid UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015483 MONDO:0024623 False mandibulofacial dysostosis otorhinolaryngologic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015484 MONDO:0000367 False cysticercosis taeniasis UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0015486 MONDO:0003847 False keratoconus hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0015487 MONDO:0005217 False fatal infantile encephalocardiomyopathy familial cardiomyopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015487 MONDO:0009637 False fatal infantile encephalocardiomyopathy inborn mitochondrial myopathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0015487 MONDO:0016387 False fatal infantile encephalocardiomyopathy mitochondrial oxidative phosphorylation disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015491 MONDO:0018882 False immune complex mediated vasculitis vasculitis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015492 MONDO:0800113 False anti-neutrophil cytoplasmic antibody-associated vasculitis necrotizing vasculitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015494 MONDO:0044807 False isolated dystonia inherited dystonia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015496 MONDO:0019755 False macroglossia developmental defect during embryogenesis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015496 MONDO:0023369 False macroglossia disorder of facial skeleton UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015498 MONDO:0002254 False oromandibular-limb anomalies syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015498 MONDO:0018234 False oromandibular-limb anomalies syndrome dysostosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015500 MONDO:0001256 False facial arteriovenous malformation arteriovenous hemangioma/malformation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015514 MONDO:0005151 False hereditary endocrine growth disease endocrine system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015515 MONDO:0017716 False carnitine palmitoyltransferase II deficiency disorder of carnitine cycle and carnitine transport UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015516 MONDO:0017424 False symbrachydactyly of hands and feet non-syndromic brachydactyly UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015517 MONDO:0015356 False common variable immunodeficiency hereditary neoplastic syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015517 MONDO:0016463 False common variable immunodeficiency syndromic agammaglobulinemia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015517 MONDO:0060782 False common variable immunodeficiency premalignant hematological system disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015518 MONDO:0005559 False infantile bilateral striatal necrosis neurodegenerative disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015519 MONDO:0002320 False congenital or early infantile CACH syndrome congenital nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015519 MONDO:0800448 False congenital or early infantile CACH syndrome leukoencephalopathy with vanishing white matter UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015520 MONDO:0800448 False late infantile CACH syndrome leukoencephalopathy with vanishing white matter UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015521 MONDO:0800448 False juvenile or adult CACH syndrome leukoencephalopathy with vanishing white matter UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015524 MONDO:0015185 False hyperplastic polyposis syndrome intestinal polyposis syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015524 MONDO:0004335 False hyperplastic polyposis syndrome digestive system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015525 MONDO:0003847 False congenital pseudoarthrosis of the limbs hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015525 MONDO:0018234 False congenital pseudoarthrosis of the limbs dysostosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015526 MONDO:0018431 False cold-induced sweating syndrome cold-induced sweating syndrome - hyperthermia spectrum UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015528 MONDO:0003396 False congenital epulis epulis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0015528 MONDO:0006424 False congenital epulis soft tissue neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015528 MONDO:0006499 False congenital epulis hamartoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015528 MONDO:0021086 False congenital epulis gingival neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015528 MONDO:0021580 False congenital epulis neoplasm of jaw UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015529 MONDO:0015530 False paroxysmal Hemicrania trigeminal autonomic cephalalgia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015530 MONDO:0003543 False trigeminal autonomic cephalalgia trigeminal nerve disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015530 MONDO:0017181 False trigeminal autonomic cephalalgia hypnic headache UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015531 MONDO:0002637 False non-Langerhans cell histiocytosis histiocytosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0015532 MONDO:0015531 False generalized eruptive histiocytosis non-Langerhans cell histiocytosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015533 MONDO:0015531 False benign cephalic histiocytosis non-Langerhans cell histiocytosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015534 MONDO:0015531 False juvenile xanthogranuloma non-Langerhans cell histiocytosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0015535 MONDO:0015531 False xanthoma disseminatum non-Langerhans cell histiocytosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015536 MONDO:0015531 False papular xanthoma non-Langerhans cell histiocytosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015537 MONDO:0015531 False necrobiotic xanthogranuloma non-Langerhans cell histiocytosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015538 MONDO:0015531 False indeterminate dendritic cell tumor non-Langerhans cell histiocytosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015539 MONDO:0015531 False progressive nodular histiocytosis non-Langerhans cell histiocytosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015540 MONDO:0005833 False hemophagocytic syndrome lymphatic system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0015541 MONDO:0003778 False hereditary hemophagocytic lymphohistiocytosis inborn error of immunity UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015541 MONDO:0015540 False hereditary hemophagocytic lymphohistiocytosis hemophagocytic syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015544 MONDO:0015542 False acquired hemophagocytic lymphohistiocytosis associated with malignant disease secondary hemophagocytic lymphohistiocytosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015545 MONDO:0015542 False macrophage activation syndrome secondary hemophagocytic lymphohistiocytosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015546 MONDO:0016909 False non-distal monosomy 10q partial monosomy of the long arm of chromosome 10 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015530 MONDO:0043218 False trigeminal autonomic cephalalgia neurovascular disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015540 MONDO:0002254 False hemophagocytic syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0015547 MONDO:0001627 False hereditary dementia dementia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015547 MONDO:0003847 False hereditary dementia hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015548 MONDO:0000167 False Huntington disease-like syndrome Huntington disease and related disorders UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015548 MONDO:0015547 False Huntington disease-like syndrome hereditary dementia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015550 MONDO:0017610 False suprabasal epidermolysis bullosa simplex epidermolysis bullosa simplex UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015552 MONDO:0006543 False acral dystrophic epidermolysis bullosa epidermolysis bullosa dystrophica UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015553 MONDO:0006543 False dystrophic epidermolysis bullosa, nails only epidermolysis bullosa dystrophica UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015554 MONDO:0019316 False typical urticaria pigmentosa maculopapular cutaneous mastocytosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015555 MONDO:0019316 False plaque-form urticaria pigmentosa maculopapular cutaneous mastocytosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015556 MONDO:0019316 False nodular urticaria pigmentosa maculopapular cutaneous mastocytosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015557 MONDO:0020331 False Smouldering systemic mastocytosis indolent systemic mastocytosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015558 MONDO:0020331 False isolated bone marrow mastocytosis indolent systemic mastocytosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015562 MONDO:0016915 False distal monosomy 17q partial deletion of the long arm of chromosome 17 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015565 MONDO:0005265 False cap polyposis inflammatory bowel disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015566 MONDO:0016901 False 2q24 microdeletion syndrome partial deletion of the long arm of chromosome 2 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015567 MONDO:0002254 False cataract-glaucoma syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015567 MONDO:0024458 False cataract-glaucoma syndrome disorder of visual system UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015568 MONDO:0024623 False isolated congenital nasal pyriform aperture stenosis otorhinolaryngologic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015570 MONDO:0015604 False isolated congenital auditory ossicle malformation middle ear anomaly UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015571 MONDO:0016904 False deletion 5q35 partial deletion of the long arm of chromosome 5 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015573 MONDO:0005282 False subacute cutaneous lupus erythematosus cutaneous lupus erythematosus UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015573 MONDO:0020683 False subacute cutaneous lupus erythematosus acute disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015574 MONDO:0005282 False chronic cutaneous lupus erythematosus cutaneous lupus erythematosus UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015579 MONDO:0009369 False Hb Bart's hydrops fetalis non-immune hydrops fetalis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015579 MONDO:0011399 False Hb Bart's hydrops fetalis alpha thalassemia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015580 MONDO:0016906 False distal monosomy 7q36 partial deletion of the long arm of chromosome 7 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015583 MONDO:0016884 False 2p21 microdeletion syndrome partial deletion of the short arm of chromosome 2 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015584 MONDO:0020072 False febrile infection-related epilepsy syndrome childhood-onset epilepsy syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015585 MONDO:0020072 False cryptogenic late-onset epileptic spasms childhood-onset epilepsy syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015587 MONDO:0020072 False rolandic epilepsy-speech dyspraxia syndrome childhood-onset epilepsy syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015588 MONDO:0019956 False limbic encephalitis encephalitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0015589 MONDO:0015588 False paraneoplastic limbic encephalitis limbic encephalitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015589 MONDO:0018215 False paraneoplastic limbic encephalitis paraneoplastic neurologic syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015592 MONDO:0020068 False limbic encephalitis with LGI1 antibodies postinfectious encephalitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015595 MONDO:0015588 False posttransplant acute limbic encephalitis limbic encephalitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015595 MONDO:0700220 False posttransplant acute limbic encephalitis disease related to transplantation UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015596 MONDO:0015588 False non-herpetic acute limbic encephalitis limbic encephalitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015597 MONDO:0019268 False pustulosis palmaris et plantaris epidermal disease UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015599 MONDO:0005328 False atopic keratoconjunctivitis eye disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015600 MONDO:0020119 False X-linked intellectual disability, Cilliers type X-linked syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015604 MONDO:0019755 False middle ear anomaly developmental defect during embryogenesis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015604 MONDO:0024623 False middle ear anomaly otorhinolaryngologic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015605 MONDO:0008013 False distal monosomy 9p chromosome 9p deletion syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015605 MONDO:0020040 False distal monosomy 9p 46,XY disorder of sex development UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015606 MONDO:0017004 False Xp22.3 microdeletion syndrome partial monosomy of the short arm of chromosome X UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015607 MONDO:0000761 False partial chromosome Y deletion syndrome caused by partial chromosomal deletion UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015607 MONDO:0005372 False partial chromosome Y deletion male infertility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015607 MONDO:0700028 False partial chromosome Y deletion chromosome Y disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015608 MONDO:0019457 False acute myeloid leukemia and myelodysplastic syndromes related to radiation therapy related acute myeloid leukemia and myelodysplastic syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015609 MONDO:0003847 False advanced sleep phase syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0015609 MONDO:0024361 False advanced sleep phase syndrome circadian rhythm sleep disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015610 MONDO:0015909 False acquired aplastic anemia aplastic anemia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015611 MONDO:0018117 False neutral lipid storage disease disorder of phospholipids, sphingolipids and fatty acids biosynthesis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015611 MONDO:0019245 False neutral lipid storage disease lysosomal lipid storage disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0015612 MONDO:0006510 False Dent disease renal tubular transport disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0015612 MONDO:0015962 False Dent disease inherited renal tubular disease UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015613 MONDO:0002220 False dentin dysplasia tooth hard tissue disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0015614 MONDO:0019337 False dermatitis herpetiformis autoimmune bullous skin disease UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0015622 MONDO:0020568 False wound myiasis cutaneous myiasis UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015623 MONDO:0019147 False cavitary myiasis myiasis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015624 MONDO:0019010 False diazoxide-sensitive diffuse hyperinsulinism congenital isolated hyperinsulinism UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015625 MONDO:0017186 False diazoxide-resistant diffuse hyperinsulinism diazoxide-resistant hyperinsulinism UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015626 MONDO:0020127 False Charcot-Marie-Tooth disease hereditary peripheral neuropathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015627 MONDO:0004603 False multiple epiphyseal dysplasia due to collagen 9 anomaly collagenopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015627 MONDO:0016648 False multiple epiphyseal dysplasia due to collagen 9 anomaly multiple epiphyseal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0015627 MONDO:0023603 False multiple epiphyseal dysplasia due to collagen 9 anomaly hereditary disorder of connective tissue UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015628 MONDO:0013304 False von Willebrand disease type 2A von Willebrand disease 2 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015629 MONDO:0013304 False von Willebrand disease type 2B von Willebrand disease 2 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015630 MONDO:0013304 False von Willebrand disease type 2M von Willebrand disease 2 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015631 MONDO:0013304 False von Willebrand disease type 2N von Willebrand disease 2 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015632 MONDO:0016387 False FASTKD2-related infantile mitochondrial encephalomyopathy mitochondrial oxidative phosphorylation disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015634 MONDO:0001414 False isolated osteopoikilosis osteopoikilosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015635 MONDO:0005073 False porokeratotic eccrine ostial and dermal duct nevus melanocytic nevus UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015635 MONDO:0024247 False porokeratotic eccrine ostial and dermal duct nevus benign eccrine neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015635 MONDO:0024482 False porokeratotic eccrine ostial and dermal duct nevus eccrine sweat gland hamartoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015636 MONDO:0005943 False dirofilariasis Rhabditida infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015636 MONDO:0016075 False dirofilariasis filariasis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0015637 MONDO:0015642 False benign non-familial infantile seizures benign partial infantile seizures UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015638 MONDO:0015637 False benign partial epilepsy of infancy with complex partial seizures benign non-familial infantile seizures UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015639 MONDO:0015637 False benign partial epilepsy with secondarily generalized seizures in infancy benign non-familial infantile seizures UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015640 MONDO:0015642 False benign infantile seizures associated with mild gastroenteritis benign partial infantile seizures UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015641 MONDO:0015642 False benign infantile focal epilepsy with midline spikes and wave during sleep benign partial infantile seizures UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015642 MONDO:0020071 False benign partial infantile seizures infantile epilepsy syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015643 MONDO:0023224 False photosensitive epilepsy inherited reflex epilepsy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015643 MONDO:0043459 False photosensitive epilepsy radiation-induced disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015644 MONDO:0017768 False audiogenic seizures reflex epilepsy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015645 MONDO:0017768 False eating seizures reflex epilepsy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015646 MONDO:0017768 False orgasm-induced seizures reflex epilepsy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015647 MONDO:0017768 False thinking seizures reflex epilepsy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015648 MONDO:0017768 False startle epilepsy reflex epilepsy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015649 MONDO:0017768 False micturation-induced seizures reflex epilepsy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015650 MONDO:0005027 False epilepsy syndrome epilepsy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015653 MONDO:0003847 False monogenic epilepsy hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015653 MONDO:0005027 False monogenic epilepsy epilepsy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015660 MONDO:0002602 False sporadic fetal brain disruption sequence central nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015661 MONDO:0005453 False dextrocardia congenital heart disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0015661 MONDO:0018677 False dextrocardia visceral heterotaxy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0015663 MONDO:0002254 False diencephalic syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015663 MONDO:0005151 False diencephalic syndrome endocrine system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015664 MONDO:0020292 False idiopathic pulmonary artery dilatation congenital anomaly of the great arteries UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015664 MONDO:0700007 False idiopathic pulmonary artery dilatation idiopathic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015665 MONDO:0018432 False scleromyxedema lichen myxedematosus UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015666 MONDO:0019512 False familial idiopathic dilatation of the right atrium congenital heart malformation UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015666 MONDO:0700007 False familial idiopathic dilatation of the right atrium idiopathic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015672 MONDO:0021147 False diprosopus disorder of development or morphogenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015674 MONDO:0002561 False late infantile neuronal ceroid lipofuscinosis lysosomal storage disease UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015675 MONDO:0005135 False distomatosis parasitic infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015677 MONDO:0019512 False cardiac diverticulum congenital heart malformation UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015678 MONDO:0018230 False dysplasia of head of femur, Meyer type skeletal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015686 MONDO:0002113 False primary peritoneal carcinoma peritoneal carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015688 MONDO:0015756 False myeloid/lymphoid neoplasms associated with eosinophilia and abnormality of PDGFRA, PDGFRB, FGFR1 or JAK2 myeloid hemopathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015691 MONDO:0016345 False hypereosinophilic syndrome non-familial restrictive cardiomyopathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015691 MONDO:0002254 False hypereosinophilic syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0015691 MONDO:0044972 False hypereosinophilic syndrome eosinophil disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015692 MONDO:0018881 False refractory anemia with excess blasts in transformation myelodysplastic syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015694 MONDO:0005105 False malignant melanoma of the mucosa melanoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015695 MONDO:0015131 False combined immunodeficiency due to CRAC channel dysfunction combined immunodeficiency UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015696 MONDO:0015977 False Good syndrome agammaglobulinemia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0015696 MONDO:0017769 False Good syndrome acquired immunodeficiency UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015697 MONDO:0003778 False immunoglobulin heavy chain deficiency inborn error of immunity UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015699 MONDO:0003832 False immunodeficiency due to a classical component pathway complement deficiency complement deficiency UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015700 MONDO:0003832 False immunodeficiency due to a late component of complement deficiency complement deficiency UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015701 MONDO:0021147 False T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiency disorder of development or morphogenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015701 MONDO:0044200 False T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiency T-B+ severe combined immunodeficiency UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015702 MONDO:0044200 False T-B+ severe combined immunodeficiency due to CD45 deficiency T-B+ severe combined immunodeficiency UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015703 MONDO:0044200 False T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta T-B+ severe combined immunodeficiency UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015704 MONDO:0015338 False familial scaphocephaly syndrome syndromic craniosynostosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015705 MONDO:0018947 False autosomal recessive centronuclear myopathy centronuclear myopathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0015705 MONDO:0100493 False autosomal recessive centronuclear myopathy autosomal recessive titinopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015706 MONDO:0700008 False mosaic trisomy 1 chromosome 1 disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015706 MONDO:0700065 False mosaic trisomy 1 trisomy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015708 MONDO:0003778 False immuno-osseous dysplasia inborn error of immunity UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015712 MONDO:0016961 False non-distal trisomy 10q partial duplication of the long arm of chromosome 10 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015713 MONDO:0019165 False idiopathic central precocious puberty central precocious puberty UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015713 MONDO:0700007 False idiopathic central precocious puberty idiopathic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015714 MONDO:0019165 False secondary central precocious puberty central precocious puberty UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015715 MONDO:0010604 False severe hemophilia B hemophilia B UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015716 MONDO:0010604 False moderately severe hemophilia B hemophilia B UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015717 MONDO:0010604 False mild hemophilia B hemophilia B UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015718 MONDO:0700019 False mosaic trisomy 12 chromosome 12 disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015718 MONDO:0700065 False mosaic trisomy 12 trisomy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015719 MONDO:0010602 False severe hemophilia A hemophilia A UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015720 MONDO:0010602 False moderately severe hemophilia A hemophilia A UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015721 MONDO:0010602 False mild hemophilia A hemophilia A UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015722 MONDO:0002242 False congenital vitamin K-dependent coagulation factors deficiency coagulation protein disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015722 MONDO:0002243 False congenital vitamin K-dependent coagulation factors deficiency hemorrhagic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0015722 MONDO:0009332 False congenital vitamin K-dependent coagulation factors deficiency congenital hematological disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015722 MONDO:0021181 False congenital vitamin K-dependent coagulation factors deficiency inherited blood coagulation disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015723 MONDO:0016933 False trisomy 12p partial trisomy/tetrasomy of the short arm of chromosome 12 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015724 MONDO:0022177 False non-distal trisomy 13q chromosome 13q trisomy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015725 MONDO:0700021 False mosaic trisomy 14 chromosome 14 disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015725 MONDO:0700065 False mosaic trisomy 14 trisomy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015726 MONDO:0002254 False distal trisomy 14q syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015726 MONDO:0016964 False distal trisomy 14q partial duplication of the long arm of chromosome 14 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015727 MONDO:0700022 False mosaic trisomy 15 chromosome 15 disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015727 MONDO:0700065 False mosaic trisomy 15 trisomy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015728 MONDO:0017806 False distal trisomy 15q 15q overgrowth syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015729 MONDO:0022180 False mosaic trisomy 16 chromosome 16 trisomy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015730 MONDO:0020583 False mosaic trisomy 17 chromosome 17 disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015730 MONDO:0700065 False mosaic trisomy 17 trisomy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -24561,139 +27302,58 @@ MONDO:0015732 MONDO:0021147 False intermediate anorectal malformation disorder o MONDO:0015733 MONDO:0021147 False low anorectal malformation disorder of development or morphogenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015734 MONDO:0019938 False rectal duplication anorectal malformation UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015735 MONDO:0002320 False severe congenital nemaline myopathy congenital nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015735 MONDO:0016193 False severe congenital nemaline myopathy qualitative or quantitative defects of alpha-actin UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015735 MONDO:0016194 False severe congenital nemaline myopathy qualitative or quantitative defects of nebulin UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015735 MONDO:0018958 False severe congenital nemaline myopathy nemaline myopathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015736 MONDO:0002320 False intermediate nemaline myopathy congenital nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015736 MONDO:0005336 False intermediate nemaline myopathy myopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015736 MONDO:0016193 False intermediate nemaline myopathy qualitative or quantitative defects of alpha-actin UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015736 MONDO:0016194 False intermediate nemaline myopathy qualitative or quantitative defects of nebulin UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015736 MONDO:0017303 False intermediate nemaline myopathy qualitative or quantitative defects of tropomyosin UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015737 MONDO:0002320 False typical nemaline myopathy congenital nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015737 MONDO:0016193 False typical nemaline myopathy qualitative or quantitative defects of alpha-actin UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015737 MONDO:0016194 False typical nemaline myopathy qualitative or quantitative defects of nebulin UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015737 MONDO:0017303 False typical nemaline myopathy qualitative or quantitative defects of tropomyosin UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015737 MONDO:0018958 False typical nemaline myopathy nemaline myopathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015738 MONDO:0002320 False childhood-onset nemaline myopathy congenital nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015738 MONDO:0016193 False childhood-onset nemaline myopathy qualitative or quantitative defects of alpha-actin UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015738 MONDO:0016194 False childhood-onset nemaline myopathy qualitative or quantitative defects of nebulin UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015738 MONDO:0017303 False childhood-onset nemaline myopathy qualitative or quantitative defects of tropomyosin UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015738 MONDO:0018958 False childhood-onset nemaline myopathy nemaline myopathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015739 MONDO:0002320 False adult-onset nemaline myopathy congenital nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015739 MONDO:0016193 False adult-onset nemaline myopathy qualitative or quantitative defects of alpha-actin UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015739 MONDO:0016194 False adult-onset nemaline myopathy qualitative or quantitative defects of nebulin UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015739 MONDO:0018958 False adult-onset nemaline myopathy nemaline myopathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015740 MONDO:0016951 False trisomy 18p partial trisomy/tetrasomy of the short arm of chromosome 18 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015741 MONDO:0016968 False distal trisomy 18q partial trisomy of the long arm of chromosome 18 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015743 MONDO:0024623 False idiopathic bilateral vestibulopathy otorhinolaryngologic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015743 MONDO:0700007 False idiopathic bilateral vestibulopathy idiopathic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015744 MONDO:0016969 False distal trisomy 19q partial duplication of the long arm of chromosome 19 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015745 MONDO:0021147 False microcephaly-polymicrogyria-corpus callosum agenesis syndrome disorder of development or morphogenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015746 MONDO:0018394 False male infertility due to globozoospermia male infertility with teratozoospermia due to single gene mutation UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015748 MONDO:0005073 False hereditary mucosal leukokeratosis melanocytic nevus UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015748 MONDO:0100118 False hereditary mucosal leukokeratosis hereditary skin disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015749 MONDO:0016905 False 6q16 deletion syndrome partial deletion of the long arm of chromosome 6 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015749 MONDO:0018354 False 6q16 deletion syndrome Prader-Willi-like syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015751 MONDO:0015338 False craniosynostosis-hydrocephalus-Arnold-Chiari malformation type I-radioulnar synostosis syndrome syndromic craniosynostosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015752 MONDO:0002254 False intellectual disability-cataracts-kyphosis syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015753 MONDO:0100084 False cap myopathy alpha-actinopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015753 MONDO:0100108 False cap myopathy TPM3-related myopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015755 MONDO:0019952 False myopathy with hexagonally cross-linked tubular arrays congenital myopathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015756 MONDO:0005570 False myeloid hemopathy hematologic disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015756 MONDO:0045024 False myeloid hemopathy cell proliferation disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015757 MONDO:0002334 False lymphoid hemopathy hematopoietic and lymphoid system neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015758 MONDO:0015760 False primary cutaneous T-cell lymphoma T-cell non-Hodgkin lymphoma UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015758 MONDO:0018898 False primary cutaneous T-cell lymphoma primary cutaneous lymphoma UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015761 MONDO:0016947 False trisomy 10p partial duplication of the short arm of chromosome 10 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015762 MONDO:0017290 False progressive familial intrahepatic cholestasis familial intrahepatic cholestasis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015762 MONDO:0017755 False progressive familial intrahepatic cholestasis inborn disorder of bilirubin metabolism UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015762 MONDO:0002254 False progressive familial intrahepatic cholestasis syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0015763 MONDO:0700009 False mosaic trisomy 2 chromosome 2 disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015763 MONDO:0700065 False mosaic trisomy 2 trisomy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015764 MONDO:0022757 False mosaic trisomy 20 chromosome 20 trisomy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015766 MONDO:0000314 False cholera primary bacterial infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0015766 MONDO:0007014 False cholera vibrio infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015767 MONDO:0016941 False trisomy 4p partial duplication of the short arm of chromosome 4 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015768 MONDO:0016942 False trisomy 5p partial trisomy/tetrasomy of the short arm of chromosome 5 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015768 MONDO:0019716 False trisomy 5p overgrowth syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015769 MONDO:0016943 False distal trisomy 6p partial duplication of the short arm of chromosome 6 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015770 MONDO:0019824 False congenital hypogonadotropic hypogonadism non-acquired pituitary hormone deficiency UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015770 MONDO:0018555 False congenital hypogonadotropic hypogonadism hypogonadotropic hypogonadism UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015771 MONDO:0700014 False mosaic trisomy 7 chromosome 7 disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015771 MONDO:0700065 False mosaic trisomy 7 trisomy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015772 MONDO:0016959 False trisomy 8q partial duplication of the long arm of chromosome 8 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015773 MONDO:0019054 False fibular dimelia-diplopodia syndrome congenital limb malformation UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015774 MONDO:0002254 False thoraco-abdominal enteric duplication syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015774 MONDO:0004335 False thoraco-abdominal enteric duplication digestive system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015775 MONDO:0019701 False non-rhizomelic chondrodysplasia punctata chondrodysplasia punctata UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015776 MONDO:0005328 False rhizomelic chondrodysplasia punctata eye disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0015776 MONDO:0017986 False rhizomelic chondrodysplasia punctata disorder of plasmalogens biosynthesis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015779 MONDO:0017975 False 45,X/46,XY mixed gonadal dysgenesis sex chromosome disorder of sex development UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015780 MONDO:0015356 False dyskeratosis congenita hereditary neoplastic syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015780 MONDO:0019287 False dyskeratosis congenita ectodermal dysplasia syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS -MONDO:0015781 MONDO:0015159 False facial dysmorphism-shawl scrotum-joint laxity syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015782 MONDO:0003847 False dysmorphism-cleft palate-loose skin syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015783 MONDO:0020301 False Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 Prader-Willi syndrome due to paternal 15q11q13 deletion UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015784 MONDO:0020301 False Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 Prader-Willi syndrome due to paternal 15q11q13 deletion UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015785 MONDO:0008300 False Prader-Willi syndrome due to translocation Prader-Willi syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015786 MONDO:0008300 False Prader-Willi syndrome due to imprinting mutation Prader-Willi syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015787 MONDO:0010602 False symptomatic form of hemophilia A in female carriers hemophilia A UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015788 MONDO:0010604 False symptomatic form of hemophilia B in female carriers hemophilia B UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015790 MONDO:0015127 False central diabetes insipidus pituitary deficiency UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015790 MONDO:0100070 False central diabetes insipidus neuroendocrine disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015791 MONDO:0000088 False peripheral precocious puberty precocious puberty UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015792 MONDO:0018612 False transient congenital hypothyroidism congenital hypothyroidism UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015793 MONDO:0018948 False moderate multiminicore disease with hand involvement multiminicore myopathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015794 MONDO:0018948 False antenatal multiminicore disease with arthrogryposis multiplex congenita multiminicore myopathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015795 MONDO:0024477 False undifferentiated embryonal sarcoma of the liver liver and intrahepatic bile duct neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015796 MONDO:0005275 False acute lung injury lung disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015796 MONDO:0020683 False acute lung injury acute disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015796 MONDO:0021178 False acute lung injury injury UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015797 MONDO:0006025 False UV-sensitive syndrome autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0015797 MONDO:0015951 False UV-sensitive syndrome hereditary photodermatosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015797 MONDO:0021190 False UV-sensitive syndrome DNA repair disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015799 MONDO:0016761 False Smith-McCort dysplasia spondyloepiphyseal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0015800 MONDO:0015338 False osteosclerosis-developmental delay-craniosynostosis syndrome syndromic craniosynostosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015801 MONDO:0002242 False hemorrhagic disease due to alpha-1-antitrypsin Pittsburgh mutation coagulation protein disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015801 MONDO:0002243 False hemorrhagic disease due to alpha-1-antitrypsin Pittsburgh mutation hemorrhagic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015802 MONDO:0000509 False autosomal dominant non-syndromic intellectual disability non-syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0015802 MONDO:0100172 False autosomal dominant non-syndromic intellectual disability intellectual disability, autosomal dominant UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015803 MONDO:0016468 False wound botulism toxin-mediated infectious botulism UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015804 MONDO:0015805 False infant botulism intestinal botulism UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0015805 MONDO:0016468 False intestinal botulism toxin-mediated infectious botulism UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015806 MONDO:0015805 False adult intestinal botulism intestinal botulism UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015807 MONDO:0003847 False myopic macular degeneration hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015807 MONDO:0005283 False myopic macular degeneration retinal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015808 MONDO:0021655 False folliculotropic mycosis fungoides secondary catabolic mucinosis of skin UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015810 MONDO:0015816 False primary cutaneous CD4+ small/medium-sized pleomorphic T-cell lymphoma indolent primary cutaneous T-cell lymphoma UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015811 MONDO:0015758 False primary cutaneous aggressive epidermotropic CD8+ T-cell lymphoma primary cutaneous T-cell lymphoma UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015812 MONDO:0015758 False primary cutaneous gamma/delta-positive T-cell lymphoma primary cutaneous T-cell lymphoma UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015813 MONDO:0015819 False primary cutaneous marginal zone B-cell lymphoma indolent primary cutaneous B-cell lymphoma UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015814 MONDO:0015819 False primary cutaneous follicle center lymphoma indolent primary cutaneous B-cell lymphoma UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015816 MONDO:0015758 False indolent primary cutaneous T-cell lymphoma primary cutaneous T-cell lymphoma UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015819 MONDO:0000621 False indolent primary cutaneous B-cell lymphoma immune system cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015819 MONDO:0015820 False indolent primary cutaneous B-cell lymphoma primary cutaneous B-cell lymphoma UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015819 MONDO:0017594 False indolent primary cutaneous B-cell lymphoma indolent B-cell non-Hodgkin lymphoma UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015820 MONDO:0018898 False primary cutaneous B-cell lymphoma primary cutaneous lymphoma UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015821 MONDO:0015816 False mycosis fungoides and variants indolent primary cutaneous T-cell lymphoma UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015824 MONDO:0002254 False oculomaxillofacial dysostosis syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015824 MONDO:0003847 False oculomaxillofacial dysostosis hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015824 MONDO:0018234 False oculomaxillofacial dysostosis dysostosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015824 MONDO:0023369 False oculomaxillofacial dysostosis disorder of facial skeleton UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015826 MONDO:0000359 False autosomal dominant spondylocostal dysostosis spondylocostal dysostosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015826 MONDO:0000426 False autosomal dominant spondylocostal dysostosis autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015827 MONDO:0100191 False distal renal tubular acidosis inherited kidney disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015830 MONDO:0019128 False partial bilateral aplasia of the mullerian ducts mullerian aplasia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015831 MONDO:0019128 False unilateral aplasia of the mullerian ducts mullerian aplasia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015832 MONDO:0015831 False true unicornuate uterus unilateral aplasia of the mullerian ducts UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015833 MONDO:0015831 False pseudounicornuate uterus unilateral aplasia of the mullerian ducts UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015834 MONDO:0015842 False didelphys uterus bicornuate uterus UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015835 MONDO:0015834 False Bicervical bicornuate uterus and blind hemivagina didelphys uterus UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015836 MONDO:0015834 False Bicervical bicornuate uterus with patent cervix and vagina didelphys uterus UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015838 MONDO:0002654 False cordiform uterus uterine disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015838 MONDO:0021147 False cordiform uterus disorder of development or morphogenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015839 MONDO:0002654 False septate uterus uterine disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015839 MONDO:0021147 False septate uterus disorder of development or morphogenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015840 MONDO:0015839 False complete septate uterus septate uterus UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015841 MONDO:0015839 False partial septate uterus septate uterus UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015842 MONDO:0002654 False bicornuate uterus uterine disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015842 MONDO:0021147 False bicornuate uterus disorder of development or morphogenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015843 MONDO:0002654 False uterine hypoplasia uterine disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -24712,201 +27372,116 @@ MONDO:0015856 MONDO:0002657 False syndromic breast hypoplasia/aplasia breast dis MONDO:0015863 MONDO:0003578 False polyembryoma extragonadal nonseminomatous germ cell tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015872 MONDO:0000620 False giant adenofibroma of the breast breast benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015874 MONDO:0021100 False benign ductal tumor of breast breast neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015883 MONDO:0019287 False hidrotic ectodermal dysplasia, Halal type ectodermal dysplasia syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015884 MONDO:0000426 False autosomal dominant hypohidrotic ectodermal dysplasia autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015884 MONDO:0016535 False autosomal dominant hypohidrotic ectodermal dysplasia hypohidrotic ectodermal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015892 MONDO:0015514 False growth hormone insensitivity syndrome hereditary endocrine growth disease UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015892 MONDO:0002254 False growth hormone insensitivity syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015898 MONDO:0005495 False adrenogenital syndrome adrenal gland disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015898 MONDO:0045012 False adrenogenital syndrome steroid metabolism disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015900 MONDO:0005495 False hypoaldosteronism disease adrenal gland disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015903 MONDO:0021187 False hyperalphalipoproteinemia hyperlipidemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015903 MONDO:0037748 False hyperalphalipoproteinemia hyperlipoproteinemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015905 MONDO:0002254 False syndromic dyslipidemia syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015905 MONDO:0002525 False syndromic dyslipidemia inherited lipid metabolism disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015908 MONDO:0000255 False chromomycosis subcutaneous mycosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0015908 MONDO:0002040 False chromomycosis dermatomycosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0015912 MONDO:0018795 False macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss syndromic constitutional thrombocytopenia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015912 MONDO:0002254 False macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0015914 MONDO:0005071 False primary orthostatic hypotension nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015923 MONDO:0005244 False acquired peripheral neuropathy peripheral neuropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015924 MONDO:0005149 False pulmonary arterial hypertension pulmonary hypertension UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015927 MONDO:0005749 False idiopathic eosinophilic pneumonia eosinophilic pneumonia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015927 MONDO:0700007 False idiopathic eosinophilic pneumonia idiopathic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015929 MONDO:0020001 False thoracic malformation respiratory or thoracic malformation UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015935 MONDO:0002598 False extragonadal germinoma germinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015935 MONDO:0003113 False extragonadal germinoma extragonadal germ cell cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015941 MONDO:0002254 False epiphyseal dysplasia-hearing loss-dysmorphism syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015941 MONDO:0015159 False epiphyseal dysplasia-hearing loss-dysmorphism syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015942 MONDO:0018233 False frontometaphyseal dysplasia otopalatodigital syndrome spectrum disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0015943 MONDO:0002254 False eosinophilic granulomatosis with polyangiitis syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0015943 MONDO:0012105 False eosinophilic granulomatosis with polyangiitis granulomatosis with polyangiitis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0015944 MONDO:0002254 False axial mesodermal dysplasia spectrum syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015944 MONDO:0021147 False axial mesodermal dysplasia spectrum disorder of development or morphogenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015947 MONDO:0019269 False inherited ichthyosis ichthyosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015947 MONDO:0100118 False inherited ichthyosis hereditary skin disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015951 MONDO:0100118 False hereditary photodermatosis hereditary skin disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015962 MONDO:0021568 False inherited renal tubular disease renal tubule disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015962 MONDO:0100191 False inherited renal tubular disease inherited kidney disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015967 MONDO:0005015 False monogenic diabetes diabetes mellitus UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015967 MONDO:0019052 False monogenic diabetes inborn errors of metabolism UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015977 MONDO:0002211 False agammaglobulinemia B cell deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0015978 MONDO:0004805 False functional neutrophil defect leukocyte disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015979 MONDO:0020573 False hereditary predisposition to infections inherited disease susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015985 MONDO:0018230 False bone dysplasia, Azouz type skeletal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015987 MONDO:0002254 False scimitar syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015987 MONDO:0017705 False scimitar syndrome congenital pulmonary venous return anomaly UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015987 MONDO:0020292 False scimitar syndrome congenital anomaly of the great arteries UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015988 MONDO:0002473 False multicystic dysplastic kidney cystic kidney disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015988 MONDO:0021147 False multicystic dysplastic kidney disorder of development or morphogenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015990 MONDO:0015494 False focal, segmental or multifocal dystonia isolated dystonia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015993 MONDO:0019118 False cone-rod dystrophy inherited retinal dystrophy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0015994 MONDO:0020120 False muscular dystrophy-white matter spongiosis syndrome skeletal muscle disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015995 MONDO:0018230 False melorheostosis with osteopoikilosis skeletal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015997 MONDO:0001176 False ectopia lentis-chorioretinal dystrophy-myopia syndrome lens disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015997 MONDO:0019118 False ectopia lentis-chorioretinal dystrophy-myopia syndrome inherited retinal dystrophy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015999 MONDO:0003847 False primary pigmented nodular adrenocortical disease hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0016000 MONDO:0007796 False familial isolated hypoparathyroidism due to impaired PTH secretion hypoparathyroidism, familial isolated 1 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016001 MONDO:0005071 False 2-hydroxyglutaric aciduria nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0016002 MONDO:0005328 False Ehlers-Danlos syndrome, kyphoscoliotic type 1 eye disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0016002 MONDO:0006025 False Ehlers-Danlos syndrome, kyphoscoliotic type 1 autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0016003 MONDO:0000314 False ehrlichiosis primary bacterial infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0016002 MONDO:0023603 False Ehlers-Danlos syndrome, kyphoscoliotic type 1 hereditary disorder of connective tissue UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016003 MONDO:0006922 False ehrlichiosis Anaplasmataceae infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016003 MONDO:0025294 False ehrlichiosis tick-borne infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016004 MONDO:0016677 False aminopterin/methotrexate embryofetopathy toxic or drug-related embryofetopathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016005 MONDO:0016677 False indomethacin embryofetopathy toxic or drug-related embryofetopathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016006 MONDO:0006025 False Cockayne syndrome autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0016006 MONDO:0015327 False Cockayne syndrome developmental anomaly of metabolic origin UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016006 MONDO:0015333 False Cockayne syndrome progeroid syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0016006 MONDO:0021190 False Cockayne syndrome DNA repair disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016007 MONDO:0016677 False cocaine embryofetopathy toxic or drug-related embryofetopathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016008 MONDO:0016677 False fetal hydantoin syndrome toxic or drug-related embryofetopathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016009 MONDO:0016677 False fetal trimethadione syndrome toxic or drug-related embryofetopathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016010 MONDO:0016677 False vitamin K-antagonist embryofetopathy toxic or drug-related embryofetopathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016011 MONDO:0000408 False fetal alcohol syndrome fetal alcohol spectrum disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0016011 MONDO:0016677 False fetal alcohol syndrome toxic or drug-related embryofetopathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016008 MONDO:0002254 False fetal hydantoin syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016010 MONDO:0002254 False vitamin K-antagonist embryofetopathy syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016011 MONDO:0002254 False fetal alcohol syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0016012 MONDO:0005039 False diethylstilbestrol syndrome reproductive system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016012 MONDO:0016677 False diethylstilbestrol syndrome toxic or drug-related embryofetopathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016013 MONDO:0016677 False fetal methylmercury syndrome toxic or drug-related embryofetopathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016014 MONDO:0016677 False fetal minoxidil syndrome toxic or drug-related embryofetopathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016015 MONDO:0016677 False phenobarbital embryopathy toxic or drug-related embryofetopathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016016 MONDO:0016677 False toluene embryopathy toxic or drug-related embryofetopathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016016 MONDO:0700092 False toluene embryopathy neurodevelopmental disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016017 MONDO:0002254 False methimazole embryofetopathy syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016017 MONDO:0016677 False methimazole embryofetopathy toxic or drug-related embryofetopathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016018 MONDO:0021147 False diabetic embryopathy disorder of development or morphogenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016019 MONDO:0020068 False Rasmussen subacute encephalitis postinfectious encephalitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016019 MONDO:0100028 False Rasmussen subacute encephalitis immune epilepsy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016020 MONDO:0016057 False frontal encephalocele isolated encephalocele UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016022 MONDO:0000412 False early myoclonic encephalopathy neonatal period electroclinical syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0016022 MONDO:0015653 False early myoclonic encephalopathy monogenic epilepsy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016022 MONDO:0016801 False early myoclonic encephalopathy mitochondrial substrate carrier disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016022 MONDO:0100022 False early myoclonic encephalopathy neonatal/infantile epilepsy syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016025 MONDO:0002254 False myoclonic-astatic epilepsy syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016025 MONDO:0015653 False myoclonic-astatic epilepsy monogenic epilepsy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016025 MONDO:0019216 False myoclonic-astatic epilepsy inborn disorder of amino acid transport UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016025 MONDO:0020072 False myoclonic-astatic epilepsy childhood-onset epilepsy syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016026 MONDO:0020071 False infant epilepsy with migrant focal crisis infantile epilepsy syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016027 MONDO:0000412 False benign neonatal seizures neonatal period electroclinical syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0016027 MONDO:0015653 False benign neonatal seizures monogenic epilepsy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016027 MONDO:0020070 False benign neonatal seizures neonatal epilepsy syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016028 MONDO:0003847 False erythromelalgia hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0016028 MONDO:0005294 False erythromelalgia peripheral vascular disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0016029 MONDO:0016713 False esthesioneuroblastoma central nervous system Ewing sarcoma/peripheral primitive neuroectodermal tumor UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016030 MONDO:0004680 False Evans syndrome primary thrombocytopenia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0016030 MONDO:0019098 False Evans syndrome autoimmune thrombocytopenia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016030 MONDO:0020108 False Evans syndrome autoimmune hemolytic anemia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0016031 MONDO:0015161 False facial dysmorphism-anorexia-cachexia-eye and skin anomalies syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016032 MONDO:0018234 False femoral agenesis/hypoplasia dysostosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016032 MONDO:0019713 False femoral agenesis/hypoplasia non-syndromic limb reduction defect UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016033 MONDO:0003847 False Cornelia de Lange syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0016033 MONDO:0015159 False Cornelia de Lange syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016033 MONDO:0018234 False Cornelia de Lange syndrome dysostosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0016033 MONDO:0019054 False Cornelia de Lange syndrome congenital limb malformation UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016035 MONDO:0003429 False Nelson syndrome functioning pituitary gland adenoma UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0016038 MONDO:0016037 False calcified aponeurotic fibroma superficial Fibromatosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016039 MONDO:0016037 False infantile digital fibromatosis superficial Fibromatosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016030 MONDO:0002254 False Evans syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0016040 MONDO:0001292 False harlequin syndrome autonomic nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016041 MONDO:0021147 False congenital microgastria disorder of development or morphogenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016042 MONDO:0019832 False late-onset isolated ACTH deficiency acquired pituitary hormone deficiency UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016043 MONDO:0004747 False isolated cleft lip cleft lip UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016043 MONDO:0021147 False isolated cleft lip disorder of development or morphogenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016044 MONDO:0000358 False cleft lip/palate orofacial cleft UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016045 MONDO:0017975 False tetragametic chimerism sex chromosome disorder of sex development UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016046 MONDO:0003847 False familial clubfoot with or without associated lower limb anomalies hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016046 MONDO:0019054 False familial clubfoot with or without associated lower limb anomalies congenital limb malformation UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016047 MONDO:0021166 False endophthalmitis inflammatory disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016047 MONDO:0043885 False endophthalmitis eye infectious disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016048 MONDO:0017626 False isolated autosomal dominant hypomagnesemia, Glaudemans type familial primary hypomagnesemia with normocalcuria UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016049 MONDO:0016145 False congenital myopathy, Paradas type qualitative or quantitative defects of dysferlin UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016049 MONDO:0019950 False congenital myopathy, Paradas type congenital muscular dystrophy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016051 MONDO:0002254 False cleft lip-retinopathy syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016051 MONDO:0015161 False cleft lip-retinopathy syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016052 MONDO:0000594 False atypical autism pervasive developmental disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0016053 MONDO:0020022 False isolated cerebellar vermis hypoplasia central nervous system malformation UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016056 MONDO:0001149 False isolated congenital microcephaly microcephaly UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0016057 MONDO:0017078 False isolated encephalocele cephalocele UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016058 MONDO:0020065 False paroxysmal dystonia combined dystonia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016059 MONDO:0002254 False cleft lip/palate-deafness-sacral lipoma syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016060 MONDO:0002567 False laryngotracheoesophageal cleft tracheal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016060 MONDO:0003749 False laryngotracheoesophageal cleft esophageal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016061 MONDO:0012350 False immunodeficiency with factor H anomaly complement factor H deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016062 MONDO:0015411 False median cleft lip/mandibule facial cleft UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016063 MONDO:0000426 False Cowden disease autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0016063 MONDO:0100118 False Cowden disease hereditary skin disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016064 MONDO:0000358 False cleft palate orofacial cleft UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0016064 MONDO:0019755 False cleft palate developmental defect during embryogenesis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016065 MONDO:0015159 False cleft palate-short stature-vertebral anomalies syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016066 MONDO:0015929 False sternal cleft thoracic malformation UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016067 MONDO:0002254 False Crandall syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016068 MONDO:0005516 False fibrochondrogenesis osteochondrodysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0016068 MONDO:0018230 False fibrochondrogenesis skeletal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016070 MONDO:0002507 False hereditary gingival fibromatosis gingival overgrowth UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0016070 MONDO:0003847 False hereditary gingival fibromatosis hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0016070 MONDO:0021147 False hereditary gingival fibromatosis disorder of development or morphogenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016071 MONDO:0002300 False juvenile hyaline fibromatosis dermis tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016071 MONDO:0006424 False juvenile hyaline fibromatosis soft tissue neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016071 MONDO:0009229 False juvenile hyaline fibromatosis hyaline fibromatosis syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016071 MONDO:0019060 False juvenile hyaline fibromatosis bone neoplasm UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016071 MONDO:0023603 False juvenile hyaline fibromatosis hereditary disorder of connective tissue UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016071 MONDO:0100118 False juvenile hyaline fibromatosis hereditary skin disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016073 MONDO:0002254 False syndromic microphthalmia syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0016073 MONDO:0003847 False syndromic microphthalmia hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0016073 MONDO:0021129 False syndromic microphthalmia microphthalmia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0016077 MONDO:0016581 False congenital aortopulmonary window conotruncal heart malformations UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016078 MONDO:0020296 False congenital systemic arteriovenous fistula congenital arteriovenous fistula UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016079 MONDO:0007403 False sporadic Creutzfeldt-Jakob disease inherited Creutzfeldt-Jakob disease UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016080 MONDO:0005087 False congenital bronchobiliary fistula respiratory system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016080 MONDO:0021147 False congenital bronchobiliary fistula disorder of development or morphogenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016081 MONDO:0015203 False coronary arterial fistulas coronary artery congenital malformation UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016083 MONDO:0019296 False FLOTCH syndrome subcutaneous tissue disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016085 MONDO:0015161 False Cole-Carpenter syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016085 MONDO:0018230 False Cole-Carpenter syndrome skeletal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016086 MONDO:0018381 False osteochondritis of tarsal/metatarsal bone osteochondrosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0016085 MONDO:0002254 False Cole-Carpenter syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0016087 MONDO:0003847 False progressive non-infectious anterior vertebral fusion hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016087 MONDO:0015161 False progressive non-infectious anterior vertebral fusion multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016087 MONDO:0018234 False progressive non-infectious anterior vertebral fusion dysostosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016088 MONDO:0019236 False hypoxanthine-guanine phosphoribosyltransferase deficiency inborn disorder of purine metabolism UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016089 MONDO:0009499 False infantile Krabbe disease Krabbe disease UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016090 MONDO:0009499 False late-infantile/juvenile Krabbe disease Krabbe disease UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016091 MONDO:0009499 False adult Krabbe disease Krabbe disease UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016091 MONDO:0020143 False adult Krabbe disease cerebral lipidosis with dementia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016092 MONDO:0000646 False serous or mucinous cystadenoma of childhood ovarian benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016094 MONDO:0001402 False vaginal germ cell malignant tumor vaginal cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016094 MONDO:0006290 False vaginal germ cell malignant tumor malignant germ cell tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016097 MONDO:0016106 False symptomatic form of muscular dystrophy of Duchenne and Becker in female carriers progressive muscular dystrophy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016097 MONDO:0016333 False symptomatic form of muscular dystrophy of Duchenne and Becker in female carriers familial dilated cardiomyopathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016098 MONDO:0020122 False immune-mediated necrotizing myopathy acquired idiopathic inflammatory myopathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016099 MONDO:0020122 False overlap myositis acquired idiopathic inflammatory myopathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016100 MONDO:0005071 False rippling muscle disease with myasthenia gravis nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016100 MONDO:0021142 False rippling muscle disease with myasthenia gravis acquired rippling muscle disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016101 MONDO:0005108 False neurolymphomatosis viral infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016102 MONDO:0003334 False subacute inflammatory demyelinating polyneuropathy demyelinating polyneuropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016102 MONDO:0020683 False subacute inflammatory demyelinating polyneuropathy acute disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016103 MONDO:0016146 False isolated asymptomatic elevation of creatine phosphokinase caveolinopathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016103 MONDO:0016147 False isolated asymptomatic elevation of creatine phosphokinase qualitative or quantitative defects of dystrophin UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016105 MONDO:0020120 False acquired skeletal muscle disease skeletal muscle disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016106 MONDO:0020121 False progressive muscular dystrophy muscular dystrophy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016107 MONDO:0016106 False myotonic dystrophy progressive muscular dystrophy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016107 MONDO:0016120 False myotonic dystrophy myotonic syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016108 MONDO:0000426 False autosomal dominant distal myopathy autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016108 MONDO:0018949 False autosomal dominant distal myopathy distal myopathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016112 MONDO:0005336 False hereditary inclusion-body myopathy myopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016112 MONDO:0700223 False hereditary inclusion-body myopathy hereditary skeletal muscle disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016113 MONDO:0001516 False bulbospinal muscular atrophy spinal muscular atrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016120 MONDO:0002254 False myotonic syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016120 MONDO:0020120 False myotonic syndrome skeletal muscle disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016122 MONDO:0005071 False periodic paralysis nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016126 MONDO:0005108 False viral myositis viral infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016126 MONDO:0021167 False viral myositis myositis disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -24914,119 +27489,63 @@ MONDO:0016127 MONDO:0005113 False bacterial myositis bacterial infectious diseas MONDO:0016127 MONDO:0021167 False bacterial myositis myositis disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016128 MONDO:0005135 False parasitic myositis parasitic infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016128 MONDO:0023483 False parasitic myositis infectious myositis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016129 MONDO:0018438 False eosinophilic gastroenteritis eosinophilic gastrointestinal disease UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016130 MONDO:0002041 False fungal myositis fungal infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016130 MONDO:0021167 False fungal myositis myositis disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016139 MONDO:0005071 False qualitative or quantitative protein defects in neuromuscular diseases nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016140 MONDO:0016139 False sarcoglycanopathy qualitative or quantitative protein defects in neuromuscular diseases UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016141 MONDO:0003847 False qualitative or quantitative defects of alpha-sarcoglycan hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016141 MONDO:0016140 False qualitative or quantitative defects of alpha-sarcoglycan sarcoglycanopathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016142 MONDO:0003847 False qualitative or quantitative defects of beta-sarcoglycan hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016142 MONDO:0016140 False qualitative or quantitative defects of beta-sarcoglycan sarcoglycanopathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016143 MONDO:0003847 False qualitative or quantitative defects of gamma-sarcoglycan hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016143 MONDO:0016140 False qualitative or quantitative defects of gamma-sarcoglycan sarcoglycanopathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016144 MONDO:0003847 False qualitative or quantitative defects of delta-sarcoglycan hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016144 MONDO:0016140 False qualitative or quantitative defects of delta-sarcoglycan sarcoglycanopathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016145 MONDO:0003847 False qualitative or quantitative defects of dysferlin hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016145 MONDO:0016139 False qualitative or quantitative defects of dysferlin qualitative or quantitative protein defects in neuromuscular diseases UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016146 MONDO:0003847 False caveolinopathy hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016146 MONDO:0003939 False caveolinopathy muscle tissue disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016146 MONDO:0016139 False caveolinopathy qualitative or quantitative protein defects in neuromuscular diseases UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016147 MONDO:0016139 False qualitative or quantitative defects of dystrophin qualitative or quantitative protein defects in neuromuscular diseases UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016151 MONDO:0003847 False qualitative or quantitative defects of perlecan hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016151 MONDO:0016139 False qualitative or quantitative defects of perlecan qualitative or quantitative protein defects in neuromuscular diseases UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016153 MONDO:0003847 False qualitative or quantitative defects of TRIM32 hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016153 MONDO:0016139 False qualitative or quantitative defects of TRIM32 qualitative or quantitative protein defects in neuromuscular diseases UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016155 MONDO:0002320 False qualitative or quantitative defects of protein involved in O-glycosylation of alpha-dystroglycan congenital nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016155 MONDO:0017741 False qualitative or quantitative defects of protein involved in O-glycosylation of alpha-dystroglycan disorder of protein O-glycosylation UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016155 MONDO:0018282 False qualitative or quantitative defects of protein involved in O-glycosylation of alpha-dystroglycan qualitative or quantitative defects of alpha-dystroglycan UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016156 MONDO:0016155 False qualitative or quantitative defects of FKRP qualitative or quantitative defects of protein involved in O-glycosylation of alpha-dystroglycan UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016158 MONDO:0005560 False narcolepsy-cataplexy syndrome brain disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016158 MONDO:0021107 False narcolepsy-cataplexy syndrome narcolepsy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016159 MONDO:0020047 False Gemignani syndrome autosomal recessive syndromic cerebellar ataxia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016160 MONDO:0015653 False X-linked intellectual disability-epilepsy syndrome monogenic epilepsy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016160 MONDO:0020119 False X-linked intellectual disability-epilepsy syndrome X-linked syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016161 MONDO:0020022 False cerebral gigantism-jaw cysts syndrome central nervous system malformation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016162 MONDO:0017091 False bilateral frontal polymicrogyria bilateral polymicrogyria UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016164 MONDO:0006594 False herpetiform pemphigus pemphigus UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016165 MONDO:0001220 False hereditary hypoparathyroidism hypoparathyroidism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016165 MONDO:0003847 False hereditary hypoparathyroidism hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016166 MONDO:0001741 False hereditary hyperparathyroidism hyperparathyroidism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016166 MONDO:0003847 False hereditary hyperparathyroidism hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016167 MONDO:0001834 False optic pathway glioma visual pathway disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016167 MONDO:0016749 False optic pathway glioma tumor of cranial and spinal nerves UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016167 MONDO:0021211 False optic pathway glioma brain neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016168 MONDO:0005046 False cryopyrin-associated periodic syndrome immune system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016168 MONDO:0017953 False cryopyrin-associated periodic syndrome hereditary periodic fever syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016171 MONDO:0006915 False polyradiculoneuropathy associated with IgG/IgA/IgM monoclonal gammopathy without known antibodies polyradiculoneuropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016175 MONDO:0002051 False cutis laxa integumentary system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0016175 MONDO:0019755 False cutis laxa developmental defect during embryogenesis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016175 MONDO:0020159 False cutis laxa congenital entropion UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016176 MONDO:0015923 False axonal polyneuropathy associated with IgG/IgM/IgA monoclonal gammopathy acquired peripheral neuropathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016184 MONDO:0016155 False qualitative or quantitative defects of protein O-mannosyltransferase 1 qualitative or quantitative defects of protein involved in O-glycosylation of alpha-dystroglycan UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016185 MONDO:0016155 False qualitative or quantitative defects of protein O-mannosyltransferase 2 qualitative or quantitative defects of protein involved in O-glycosylation of alpha-dystroglycan UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016186 MONDO:0016139 False qualitative or quantitative defects of myofibrillar proteins qualitative or quantitative protein defects in neuromuscular diseases UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016187 MONDO:0003847 False qualitative or quantitative defects of desmin hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016187 MONDO:0016186 False qualitative or quantitative defects of desmin qualitative or quantitative defects of myofibrillar proteins UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016188 MONDO:0016186 False qualitative or quantitative defects of alphaB-cristallin qualitative or quantitative defects of myofibrillar proteins UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016189 MONDO:0016186 False qualitative or quantitative defects of filamin C qualitative or quantitative defects of myofibrillar proteins UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016190 MONDO:0016186 False qualitative or quantitative defects of protein ZASP qualitative or quantitative defects of myofibrillar proteins UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016191 MONDO:0016139 False qualitative or quantitative defects of titin qualitative or quantitative protein defects in neuromuscular diseases UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016192 MONDO:0003847 False qualitative or quantitative defects of telethonin hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016192 MONDO:0016139 False qualitative or quantitative defects of telethonin qualitative or quantitative protein defects in neuromuscular diseases UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016193 MONDO:0016139 False qualitative or quantitative defects of alpha-actin qualitative or quantitative protein defects in neuromuscular diseases UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016194 MONDO:0016139 False qualitative or quantitative defects of nebulin qualitative or quantitative protein defects in neuromuscular diseases UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016195 MONDO:0003847 False qualitative or quantitative defects of beta-myosin heavy chain (MYH7) hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016195 MONDO:0016139 False qualitative or quantitative defects of beta-myosin heavy chain (MYH7) qualitative or quantitative protein defects in neuromuscular diseases UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016197 MONDO:0016139 False qualitative or quantitative defects of selenoprotein N1 qualitative or quantitative protein defects in neuromuscular diseases UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016198 MONDO:0003847 False qualitative or quantitative defects of plectin hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016198 MONDO:0016139 False qualitative or quantitative defects of plectin qualitative or quantitative protein defects in neuromuscular diseases UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016199 MONDO:0016139 False qualitative or quantitative defects of protein SERCA1 qualitative or quantitative protein defects in neuromuscular diseases UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016202 MONDO:0000426 False autosomal dominant rhegmatogenous retinal detachment autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016202 MONDO:0005464 False autosomal dominant rhegmatogenous retinal detachment rhegmatogenous retinal detachment UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016203 MONDO:0005439 False hypercholesterolemia due to cholesterol 7alpha-hydroxylase deficiency familial hypercholesterolemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016203 MONDO:0019218 False hypercholesterolemia due to cholesterol 7alpha-hydroxylase deficiency inborn disorder of bile acid synthesis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016204 MONDO:0005154 False idiopathic copper-associated cirrhosis liver disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016204 MONDO:0700007 False idiopathic copper-associated cirrhosis idiopathic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016205 MONDO:0005328 False IRVAN syndrome eye disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016206 MONDO:0017258 False idiopathic uveal effusion syndrome idiopathic panuveitis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016207 MONDO:0017634 False phacoanaphylactic uveitis non-infectious anterior uveitis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016208 MONDO:0005020 False solitary rectal ulcer syndrome intestinal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016209 MONDO:0016210 False benign familial nocturnal alternating hemiplegia of childhood alternating hemiplegia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016210 MONDO:0700092 False alternating hemiplegia neurodevelopmental disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016211 MONDO:0040679 False non-papillary transitional cell carcinoma of the bladder urothelial carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016213 MONDO:0019289 False leukonychia totalis-acanthosis-nigricans-like lesions-abnormal hair syndrome hyperpigmentation of the skin UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016214 MONDO:0015925 False pulmonary fibrosis-hepatic hyperplasia-bone marrow hypoplasia syndrome interstitial lung disease UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016215 MONDO:0000396 False spastic quadriplegic cerebral palsy spastic cerebral palsy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0016215 MONDO:0003847 False spastic quadriplegic cerebral palsy hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0016217 MONDO:0024623 False mal de Debarquement otorhinolaryngologic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016218 MONDO:0000590 False Guillain-Barre syndrome autoimmune disorder of peripheral nervous system UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0016219 MONDO:0015161 False dysmorphism-pectus carinatum-joint laxity syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016218 MONDO:0002254 False Guillain-Barre syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0016220 MONDO:0002257 False congenital temporomandibular joint ankylosis ankylosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016220 MONDO:0005473 False congenital temporomandibular joint ankylosis temporomandibular joint disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016222 MONDO:0020664 False spindle cell hemangioma spindle cell neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016223 MONDO:0006500 False infantile hemangioma of rare localization hemangioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016225 MONDO:0005071 False specific learning disability nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016226 MONDO:0016225 False specific language disorder specific learning disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016227 MONDO:0100309 False hereditary episodic ataxia hereditary ataxia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0016231 MONDO:0005385 False capillary malformation vascular disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016237 MONDO:0024296 False diffuse neonatal hemangiomatosis vascular neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016239 MONDO:0019246 False cystinosis inborn disorder of lysosomal amino acid transport UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016240 MONDO:0018234 False hemimelia dysostosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016240 MONDO:0019713 False hemimelia non-syndromic limb reduction defect UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016241 MONDO:0001170 False alternating hemiplegia of childhood hemiplegia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0016241 MONDO:0016210 False alternating hemiplegia of childhood alternating hemiplegia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016241 MONDO:0100500 False alternating hemiplegia of childhood Mendelian neurodevelopmental disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016242 MONDO:0002280 False hemoglobin C disease anemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0016243 MONDO:0002280 False hemoglobin E disease anemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0016244 MONDO:0003832 False atypical hemolytic-uremic syndrome complement deficiency UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0016244 MONDO:0019737 False atypical hemolytic-uremic syndrome thrombotic microangiopathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016244 MONDO:0957097 False atypical hemolytic-uremic syndrome hereditary hemolytic uremic syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016244 MONDO:0002254 False atypical hemolytic-uremic syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0016248 MONDO:0003847 False familial ovarian cancer hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016248 MONDO:0008170 False familial ovarian cancer ovarian cancer UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016249 MONDO:0016248 False hereditary site-specific ovarian cancer syndrome familial ovarian cancer UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016256 MONDO:0002254 False Hennekam syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0016256 MONDO:0015159 False Hennekam syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016256 MONDO:0019313 False Hennekam syndrome lymphatic malformation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS MONDO:0016260 MONDO:0004526 False uterine corpus rhabdomyosarcoma mixed endometrial stromal and smooth muscle tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016262 MONDO:0004526 False leiomyosarcoma of the corpus uteri mixed endometrial stromal and smooth muscle tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS @@ -25034,7 +27553,7 @@ MONDO:0016263 MONDO:0005462 False primitive neuroectodermal tumor of the corpus MONDO:0016263 MONDO:0021254 False primitive neuroectodermal tumor of the corpus uteri corpus uteri neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016264 MONDO:0000569 False autoimmune hepatitis autoimmune disorder of endocrine system UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0016264 MONDO:0000586 False autoimmune hepatitis autoimmune disorder of exocrine system UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0016264 MONDO:0000588 False autoimmune hepatitis autoimmune disorder of gastrointestinal tract UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0016264 MONDO:0002251 False autoimmune hepatitis hepatitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0016266 MONDO:0005096 False squamous cell carcinoma of the corpus uteri squamous cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016266 MONDO:0005213 False squamous cell carcinoma of the corpus uteri uterine carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016266 MONDO:0006003 False squamous cell carcinoma of the corpus uteri uterine corpus cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -25059,62 +27578,28 @@ MONDO:0016276 MONDO:0002974 False high-grade neuroendocrine carcinoma of the cer MONDO:0016277 MONDO:0002974 False malignant mixed epithelial and mesenchymal tumor of cervix uteri cervical cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016280 MONDO:0002974 False sarcoma of cervix uteri cervical cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016280 MONDO:0005089 False sarcoma of cervix uteri sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016282 MONDO:0016280 False rhabdomyosarcoma of the cervix uteri sarcoma of cervix uteri UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016283 MONDO:0016280 False leiomyosarcoma of the cervix uteri sarcoma of cervix uteri UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016284 MONDO:0016280 False primitive neuroectodermal tumor of the cervix uteri sarcoma of cervix uteri UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016285 MONDO:0005131 False papillary carcinoma of the cervix uteri cervical carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016285 MONDO:0006509 False papillary carcinoma of the cervix uteri papillary carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016289 MONDO:0002974 False malignant germ cell tumor of cervix uteri cervical cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016289 MONDO:0006290 False malignant germ cell tumor of cervix uteri malignant germ cell tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016290 MONDO:0015159 False Hernández-Aguirre Negrete syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016290 MONDO:0020066 False Hernández-Aguirre Negrete syndrome Ehlers-Danlos syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016291 MONDO:0015338 False craniosynostosis, Herrmann-Opitz type syndromic craniosynostosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016292 MONDO:0002254 False nodular neuronal heterotopia syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016293 MONDO:0004587 False congenital stationary night blindness hereditary night blindness UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0016294 MONDO:0002254 False Hirschsprung disease-type D brachydactyly syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016294 MONDO:0015161 False Hirschsprung disease-type D brachydactyly syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016294 MONDO:0021189 False Hirschsprung disease-type D brachydactyly syndrome intestinal motility disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016295 MONDO:0019245 False neuronal ceroid lipofuscinosis lysosomal lipid storage disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0016295 MONDO:0024237 False neuronal ceroid lipofuscinosis inherited neurodegenerative disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016296 MONDO:0002320 False holoprosencephaly congenital nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0016296 MONDO:0003847 False holoprosencephaly hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0016296 MONDO:0015159 False holoprosencephaly multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016296 MONDO:0018762 False holoprosencephaly non-acquired combined pituitary hormone deficiency UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016297 MONDO:0019497 False prelingual non-syndromic genetic hearing loss nonsyndromic genetic hearing loss UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016298 MONDO:0019497 False postlingual non-syndromic genetic hearing loss nonsyndromic genetic hearing loss UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016299 MONDO:0020022 False holoprosencephaly-caudal dysgenesis syndrome central nervous system malformation UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016302 MONDO:0019443 False isolated congenitally uncorrected transposition of the great arteries dextro-looped transposition of the great arteries UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016303 MONDO:0019443 False congenitally uncorrected transposition of the great arteries with cardiac malformation dextro-looped transposition of the great arteries UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016304 MONDO:0009319 False classic pantothenate kinase-associated neurodegeneration pantothenate kinase-associated neurodegeneration UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016305 MONDO:0009319 False atypical pantothenate kinase-associated neurodegeneration pantothenate kinase-associated neurodegeneration UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016306 MONDO:0018982 False Niemann-Pick disease type C, severe perinatal form Niemann-Pick disease type C UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016307 MONDO:0018982 False Niemann-Pick disease type C, severe early infantile neurologic onset Niemann-Pick disease type C UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016308 MONDO:0018982 False Niemann-Pick disease type C, late infantile neurologic onset Niemann-Pick disease type C UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016309 MONDO:0018982 False Niemann-Pick disease type C, juvenile neurologic onset Niemann-Pick disease type C UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016310 MONDO:0018982 False Niemann-Pick disease type C, adult neurologic onset Niemann-Pick disease type C UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016311 MONDO:0019293 False Bockenheimer syndrome skin vascular disease UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016312 MONDO:0800390 False 5-fluorouracil poisoning chemotherapy-induced toxicity UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016315 MONDO:0010674 False mucopolysaccharidosis type 2, severe form mucopolysaccharidosis type 2 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016316 MONDO:0010674 False mucopolysaccharidosis type 2, attenuated form mucopolysaccharidosis type 2 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016318 MONDO:0020067 False progressive multifocal leukoencephalopathy infectious encephalitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016319 MONDO:0002320 False congenital insensitivity to pain with hyperhidrosis congenital nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016319 MONDO:0015364 False congenital insensitivity to pain with hyperhidrosis hereditary sensory and autonomic neuropathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016321 MONDO:0017019 False pulmonary interstitial glycogenosis interstitial lung disease specific to infancy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016322 MONDO:0017019 False neuroendocrine cell hyperplasia of infancy interstitial lung disease specific to infancy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016322 MONDO:0005043 False neuroendocrine cell hyperplasia of infancy hyperplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016323 MONDO:0012580 False chronic respiratory distress with surfactant metabolism deficiency hereditary pulmonary alveolar proteinosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016330 MONDO:0005045 False non-familial hypertrophic cardiomyopathy hypertrophic cardiomyopathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016331 MONDO:0009229 False infantile systemic hyalinosis hyaline fibromatosis syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016333 MONDO:0005021 False familial dilated cardiomyopathy dilated cardiomyopathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016333 MONDO:0005217 False familial dilated cardiomyopathy familial cardiomyopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016338 MONDO:0005021 False non-familial dilated cardiomyopathy dilated cardiomyopathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016340 MONDO:0005201 False familial restrictive cardiomyopathy restrictive cardiomyopathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016340 MONDO:0005217 False familial restrictive cardiomyopathy familial cardiomyopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016342 MONDO:0005217 False familial isolated arrhythmogenic right ventricular dysplasia familial cardiomyopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016342 MONDO:0016587 False familial isolated arrhythmogenic right ventricular dysplasia arrhythmogenic right ventricular cardiomyopathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016344 MONDO:0000819 False hydranencephaly anencephaly UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0016344 MONDO:0017103 False hydranencephaly encephaloclastic disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016345 MONDO:0005201 False non-familial restrictive cardiomyopathy restrictive cardiomyopathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016346 MONDO:0002254 False hydrocephalus-obesity-hypogonadism syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016349 MONDO:0001150 False congenital hydrocephalus hydrocephalus UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016349 MONDO:0002320 False congenital hydrocephalus congenital nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016349 MONDO:0003847 False congenital hydrocephalus hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016350 MONDO:0002254 False hydrocephalus-blue sclerae-nephropathy syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016350 MONDO:0016349 False hydrocephalus-blue sclerae-nephropathy syndrome congenital hydrocephalus UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -25122,86 +27607,46 @@ MONDO:0016351 MONDO:0005046 False anti-HLA hyperimmunization immune system disor MONDO:0016353 MONDO:0000426 False palmoplantar keratoderma-spastic paralysis syndrome autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016353 MONDO:0007853 False palmoplantar keratoderma-spastic paralysis syndrome palmoplantar keratoderma-hereditary motor and sensory neuropathy syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016354 MONDO:0002254 False xeroderma pigmentosum-Cockayne syndrome complex syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016354 MONDO:0015951 False xeroderma pigmentosum-Cockayne syndrome complex hereditary photodermatosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016357 MONDO:0019702 False dysplastic cortical hyperostosis neonatal osteosclerotic dysplasia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016358 MONDO:0005100 False limited cutaneous systemic sclerosis systemic sclerosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0016360 MONDO:0018795 False marcothrombocytopenia with mitral valve insufficiency syndromic constitutional thrombocytopenia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016362 MONDO:0021057 False attenuated familial adenomatous polyposis classic or attenuated familial adenomatous polyposis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016364 MONDO:0002254 False Joubert syndrome with ocular defect syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016364 MONDO:0015369 False Joubert syndrome with ocular defect Joubert syndrome and related disorders UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016364 MONDO:0020022 False Joubert syndrome with ocular defect central nervous system malformation UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016364 MONDO:0024458 False Joubert syndrome with ocular defect disorder of visual system UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016365 MONDO:0010837 False familial primary hyperparathyroidism primary hyperparathyroidism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016365 MONDO:0016166 False familial primary hyperparathyroidism hereditary hyperparathyroidism UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016365 MONDO:0021360 False familial primary hyperparathyroidism tumor of parathyroid gland UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016366 MONDO:0009861 False maternal phenylketonuria phenylketonuria UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016367 MONDO:0002406 False dermatomyositis dermatitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0016367 MONDO:0005554 False dermatomyositis rheumatic disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0016367 MONDO:0019127 False dermatomyositis polymyositis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0016369 MONDO:0005328 False Rothmund-Thomson syndrome type 2 eye disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016370 MONDO:0005559 False Marchiafava-Bignami disease neurodegenerative disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016371 MONDO:0016374 False combined hyperactive dysfunction syndrome of the cranial nerves cranial neuralgia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016372 MONDO:0002639 False glossopharyngeal neuralgia glossopharyngeal nerve disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0016372 MONDO:0016374 False glossopharyngeal neuralgia cranial neuralgia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016373 MONDO:0005395 False isolated facial myokymia movement disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016374 MONDO:0003569 False cranial neuralgia cranial nerve neuropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016374 MONDO:0015923 False cranial neuralgia acquired peripheral neuropathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016374 MONDO:0021667 False cranial neuralgia neuralgia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016376 MONDO:0021154 False confetti-like macular atrophy dermis disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016377 MONDO:0015159 False Pitt-Hopkins-like syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016378 MONDO:0021147 False maternal hyperthermia induced birth defects disorder of development or morphogenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016379 MONDO:0005093 False erosive pustular dermatosis of the scalp skin disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016380 MONDO:0019280 False acquired hypertrichosis lanuginosa hypertrichosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016381 MONDO:0019280 False hypertrichosis lanuginosa congenita hypertrichosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016381 MONDO:0019287 False hypertrichosis lanuginosa congenita ectodermal dysplasia syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING -MONDO:0016382 MONDO:0019268 False hereditary poikiloderma epidermal disease UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016383 MONDO:0015962 False nephrogenic diabetes insipidus inherited renal tubular disease UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016384 MONDO:0015770 False hypogonadotropic hypogonadism-frontoparietal alopecia syndrome congenital hypogonadotropic hypogonadism UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016385 MONDO:0002254 False hypogonadism-mitral valve prolapse-intellectual disability syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016386 MONDO:0002254 False hypogonadotropic hypogonadism-retinitis pigmentosa syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016386 MONDO:0015770 False hypogonadotropic hypogonadism-retinitis pigmentosa syndrome congenital hypogonadotropic hypogonadism UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016387 MONDO:0004069 False mitochondrial oxidative phosphorylation disorder inborn mitochondrial metabolism disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016390 MONDO:0016165 False familial hypoparathyroidism hereditary hypoparathyroidism UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016390 MONDO:0019052 False familial hypoparathyroidism inborn errors of metabolism UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0016391 MONDO:0015967 False neonatal diabetes mellitus monogenic diabetes UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016392 MONDO:0005071 False cerebellar hypoplasia-tapetoretinal degeneration syndrome nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0016393 MONDO:0011323 False hyposmia-nasal and ocular hypoplasia-hypogonadotropic hypogonadism syndrome arhinia, choanal atresia, and microphthalmia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016393 MONDO:0015770 False hyposmia-nasal and ocular hypoplasia-hypogonadotropic hypogonadism syndrome congenital hypogonadotropic hypogonadism UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016394 MONDO:0015518 False sporadic infantile bilateral striatal necrosis infantile bilateral striatal necrosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016395 MONDO:0019118 False foveal hypoplasia-presenile cataract syndrome inherited retinal dystrophy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016396 MONDO:0015327 False pontocerebellar hypoplasia type 1 developmental anomaly of metabolic origin UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016396 MONDO:0016113 False pontocerebellar hypoplasia type 1 bulbospinal muscular atrophy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016396 MONDO:0019502 False pontocerebellar hypoplasia type 1 autosomal recessive non-syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0016396 MONDO:0020135 False pontocerebellar hypoplasia type 1 pontocerebellar hypoplasia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0016396 MONDO:0024257 False pontocerebellar hypoplasia type 1 hereditary motor neuron disease UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016408 MONDO:0015514 False permanent congenital hypothyroidism hereditary endocrine growth disease UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016408 MONDO:0018612 False permanent congenital hypothyroidism congenital hypothyroidism UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016410 MONDO:0016408 False central congenital hypothyroidism permanent congenital hypothyroidism UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016411 MONDO:0016410 False hypothyroidism due to deficient transcription factors involved in pituitary development or function central congenital hypothyroidism UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016413 MONDO:0016555 False congenital hypothyroidism due to maternal intake of antithyroid drugs transient congenital hypothyroidism due to maternal factor UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016414 MONDO:0002254 False hypotrichosis-intellectual disability, Lopes type syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016416 MONDO:0003150 False diphallia male reproductive system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016416 MONDO:0021147 False diphallia disorder of development or morphogenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016417 MONDO:0002254 False congenital ichthyosis-microcephalus-tetraplegia syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016418 MONDO:0007803 False multiple system atrophy, cerebellar type multiple system atrophy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016419 MONDO:0003847 False hereditary breast carcinoma hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016420 MONDO:0020242 False familial flecked retinopathy hereditary macular dystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016421 MONDO:0029000 False toxic oil syndrome poisoning UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016422 MONDO:0017278 False autoimmune polyendocrinopathy type 3 autoimmune polyendocrinopathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016423 MONDO:0017278 False autoimmune polyendocrinopathy type 4 autoimmune polyendocrinopathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016424 MONDO:0005045 False progressive sensorineural hearing loss-hypertrophic cardiomyopathy syndrome hypertrophic cardiomyopathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016425 MONDO:0002254 False Hughes-Stovin syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016426 MONDO:0002312 False fusariosis opportunistic mycosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0016429 MONDO:0005301 False Marburg acute multiple sclerosis multiple sclerosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016429 MONDO:0020683 False Marburg acute multiple sclerosis acute disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016430 MONDO:0002562 False Balo concentric sclerosis demyelinating disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0016431 MONDO:0011674 False autosomal dominant Charcot-Marie-Tooth disease type 2M Charcot-Marie-Tooth disease dominant intermediate B UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016431 MONDO:0018993 False autosomal dominant Charcot-Marie-Tooth disease type 2M Charcot-Marie-Tooth disease type 2 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016432 MONDO:0002254 False heart-hand syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016432 MONDO:0003847 False heart-hand syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016432 MONDO:0018234 False heart-hand syndrome dysostosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016432 MONDO:0019054 False heart-hand syndrome congenital limb malformation UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016433 MONDO:0015159 False dysmorphism-short stature-deafness-disorder of sex development syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016433 MONDO:0020040 False dysmorphism-short stature-deafness-disorder of sex development syndrome 46,XY disorder of sex development UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016437 MONDO:0021154 False late-onset focal dermal elastosis dermis disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016438 MONDO:0021154 False linear focal dermal elastosis dermis disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016439 MONDO:0021154 False elastoderma dermis disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -25214,77 +27659,39 @@ MONDO:0016446 MONDO:0016175 False acquired cutis laxa cutis laxa UNSUPPORTED-MIS MONDO:0016447 MONDO:0021154 False white fibrous papulosis of the neck dermis disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016448 MONDO:0005093 False pseudoxanthoma elasticum-like papillary dermal elastolysis skin disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016449 MONDO:0021154 False mid-dermal elastolysis dermis disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016450 MONDO:0020108 False autoimmune hemolytic anemia, cold type autoimmune hemolytic anemia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016451 MONDO:0018044 False idiopathic hypersomnia with long sleep time idiopathic hypersomnia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016452 MONDO:0018044 False idiopathic hypersomnia without long sleep time idiopathic hypersomnia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016454 MONDO:0018993 False Charcot-Marie-Tooth disease type 2B5 Charcot-Marie-Tooth disease type 2 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016455 MONDO:0005108 False virus-associated trichodysplasia spinulosa viral infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016455 MONDO:0024294 False virus-associated trichodysplasia spinulosa skin disorder caused by infection UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016456 MONDO:0015159 False 5q14.3 microdeletion syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016456 MONDO:0016904 False 5q14.3 microdeletion syndrome partial deletion of the long arm of chromosome 5 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016457 MONDO:0002254 False ptosis-upper ocular movement limitation-absence of lacrimal punctum syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016458 MONDO:0016959 False 8q12 microduplication syndrome partial duplication of the long arm of chromosome 8 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016459 MONDO:0016901 False 2q23.1 microdeletion syndrome partial deletion of the long arm of chromosome 2 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016460 MONDO:0005267 False polyvalvular heart disease syndrome heart disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016460 MONDO:0015160 False polyvalvular heart disease syndrome multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016461 MONDO:0016956 False 5q35 microduplication syndrome partial trisomy of the long arm of chromosome 5 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016462 MONDO:0015977 False isolated agammaglobulinemia agammaglobulinemia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016463 MONDO:0015977 False syndromic agammaglobulinemia agammaglobulinemia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016463 MONDO:0002254 False syndromic agammaglobulinemia syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016464 MONDO:0001933 False insulin-resistance syndrome type B endocrine pancreas disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016467 MONDO:0002254 False isotretinoin syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016467 MONDO:0009473 False isotretinoin syndrome isotretinoin-like syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016467 MONDO:0016677 False isotretinoin syndrome toxic or drug-related embryofetopathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016468 MONDO:0005498 False toxin-mediated infectious botulism botulism UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016469 MONDO:0005385 False Ehlers-Danlos syndrome, vascular-like type vascular disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016469 MONDO:0020066 False Ehlers-Danlos syndrome, vascular-like type Ehlers-Danlos syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016470 MONDO:0020066 False Ehlers-Danlos/osteogenesis imperfecta syndrome Ehlers-Danlos syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING -MONDO:0016471 MONDO:0017672 False pachyonychia congenita focal palmoplantar keratoderma UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016472 MONDO:0005943 False dracunculiasis Rhabditida infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016472 MONDO:0016075 False dracunculiasis filariasis UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0016473 MONDO:0002728 False familial rhabdoid tumor rhabdoid tumor UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016475 MONDO:0007534 False Beckwith-Wiedemann syndrome due to imprinting defect of 11p15 Beckwith-Wiedemann syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016476 MONDO:0007534 False Beckwith-Wiedemann syndrome due to CDKN1C mutation Beckwith-Wiedemann syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016477 MONDO:0007534 False Beckwith-Wiedemann syndrome due to 11p15 microdeletion Beckwith-Wiedemann syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016477 MONDO:0016893 False Beckwith-Wiedemann syndrome due to 11p15 microdeletion partial deletion of the short arm of chromosome 11 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016478 MONDO:0007534 False Beckwith-Wiedemann syndrome due to 11p15 translocation/inversion Beckwith-Wiedemann syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016479 MONDO:0008394 False silver-Russell syndrome due to 7p11.2p13 microduplication Silver-Russell syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016479 MONDO:0016944 False silver-Russell syndrome due to 7p11.2p13 microduplication partial duplication of the short arm of chromosome 7 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016480 MONDO:0008394 False silver-Russell syndrome due to an imprinting defect of 11p15 Silver-Russell syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016481 MONDO:0008394 False silver-Russell syndrome due to 11p15 microduplication Silver-Russell syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016481 MONDO:0016948 False silver-Russell syndrome due to 11p15 microduplication partial duplication of the short arm of chromosome 11 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016482 MONDO:0008394 False silver-Russell syndrome due to maternal uniparental disomy of chromosome 11 Silver-Russell syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016482 MONDO:0700018 False silver-Russell syndrome due to maternal uniparental disomy of chromosome 11 chromosome 11 disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016482 MONDO:0700086 False silver-Russell syndrome due to maternal uniparental disomy of chromosome 11 uniparental disomy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016483 MONDO:0003847 False intracranial berry aneurysm hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0016483 MONDO:0005291 False intracranial berry aneurysm brain aneurysm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0016486 MONDO:0013517 False beta-thalassemia major beta-thalassemia HBB/LCRB UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016487 MONDO:0013517 False beta-thalassemia intermedia beta-thalassemia HBB/LCRB UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016489 MONDO:0017145 False delta-beta-thalassemia beta-thalassemia and related diseases UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016490 MONDO:0017145 False hemoglobin C-beta-thalassemia syndrome beta-thalassemia and related diseases UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016491 MONDO:0017145 False hemoglobin E-beta-thalassemia syndrome beta-thalassemia and related diseases UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016496 MONDO:0016218 False pharyngeal-cervical-brachial variant of Guillain-Barre syndrome Guillain-Barre syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016497 MONDO:0016218 False paraparetic variant of Guillain-Barre syndrome Guillain-Barre syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016498 MONDO:0016218 False acute pure sensory neuropathy Guillain-Barre syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016498 MONDO:0020683 False acute pure sensory neuropathy acute disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016499 MONDO:0016218 False acute pandysautonomia Guillain-Barre syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016499 MONDO:0020683 False acute pandysautonomia acute disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016500 MONDO:0016218 False acute sensory ataxic neuropathy Guillain-Barre syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016500 MONDO:0020683 False acute sensory ataxic neuropathy acute disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016501 MONDO:0017014 False Hermansky-Pudlak syndrome with pulmonary fibrosis interstitial lung disease specific to childhood UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016501 MONDO:0019312 False Hermansky-Pudlak syndrome with pulmonary fibrosis Hermansky-Pudlak syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016502 MONDO:0019312 False Hermansky-Pudlak syndrome without pulmonary fibrosis Hermansky-Pudlak syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016503 MONDO:0019268 False congenital erosive and vesicular dermatosis epidermal disease UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016504 MONDO:0001422 False primary unilateral adrenal hyperplasia primary aldosteronism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016505 MONDO:0001422 False aldosterone-producing adrenal cortex adenoma primary aldosteronism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016506 MONDO:0001422 False ectopic aldosterone-producing tumor primary aldosteronism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016509 MONDO:0002254 False microcornea-posterior megalolenticonus-persistent fetal vasculature-coloboma syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016510 MONDO:0021147 False epibulbar lipodermoid-preauricular appendage-polythelia syndrome disorder of development or morphogenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016511 MONDO:0005550 False infectious embryofetopathy infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016511 MONDO:0019755 False infectious embryofetopathy developmental defect during embryogenesis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016512 MONDO:0003847 False Kabuki syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0016512 MONDO:0015159 False Kabuki syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016514 MONDO:0017610 False epidermolysis bullosa simplex with anodontia/hypodontia epidermolysis bullosa simplex UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016515 MONDO:0015160 False Kallmann syndrome-heart disease syndrome multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016515 MONDO:0015770 False Kallmann syndrome-heart disease syndrome congenital hypogonadotropic hypogonadism UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016516 MONDO:0800063 False Kenny-Caffey syndrome primordial dwarfism and slender bone disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016521 MONDO:0002254 False muscular pseudohypertrophy-hypothyroidism syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016521 MONDO:0005151 False muscular pseudohypertrophy-hypothyroidism syndrome endocrine system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -25295,113 +27702,60 @@ MONDO:0016525 MONDO:0001422 False familial hyperaldosteronism primary aldosteron MONDO:0016525 MONDO:0003009 False familial hyperaldosteronism hyperaldosteronism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016525 MONDO:0003847 False familial hyperaldosteronism hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016526 MONDO:0700043 False trisomy 9p syndrome caused by partial chromosomal duplication of the short arm of chromosome 9 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016527 MONDO:0002412 False glycogen storage disease due to lactate dehydrogenase deficiency disorder of glycogen metabolism UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016528 MONDO:0002254 False limb body wall complex syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016529 MONDO:0005240 False duplication of urethra kidney disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016529 MONDO:0021147 False duplication of urethra disorder of development or morphogenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016530 MONDO:0004382 False laryngocele laryngeal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016531 MONDO:0004335 False digestive duplication digestive system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016532 MONDO:0000414 False Lennox-Gastaut syndrome childhood electroclinical syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0016532 MONDO:0020072 False Lennox-Gastaut syndrome childhood-onset epilepsy syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016532 MONDO:0002254 False Lennox-Gastaut syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0016532 MONDO:0100062 False Lennox-Gastaut syndrome developmental and epileptic encephalopathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS -MONDO:0016533 MONDO:0007099 False apolipoprotein A-II amyloidosis familial visceral amyloidosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016534 MONDO:0019835 False infundibulo-neurohypophysitis primary hypophysitis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016535 MONDO:0021147 False hypohidrotic ectodermal dysplasia disorder of development or morphogenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016537 MONDO:0003778 False lymphoproliferative syndrome inborn error of immunity UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0016539 MONDO:0011669 False atypical hypotonia-cystinuria syndrome hypotonia-cystinuria syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016540 MONDO:0009332 False congenital secondary polycythemia congenital hematological disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016540 MONDO:0020115 False congenital secondary polycythemia secondary polycythemia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016541 MONDO:0002438 False acquired secondary polycythemia acquired polycythemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016541 MONDO:0020115 False acquired secondary polycythemia secondary polycythemia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016542 MONDO:0003778 False immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections syndrome inborn error of immunity UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016542 MONDO:0005265 False immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections syndrome inflammatory bowel disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016542 MONDO:0005554 False immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections syndrome rheumatic disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016542 MONDO:0023603 False immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections syndrome hereditary disorder of connective tissue UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016543 MONDO:0006025 False hyperphenylalaninemia due to tetrahydrobiopterin deficiency autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016543 MONDO:0019189 False hyperphenylalaninemia due to tetrahydrobiopterin deficiency inborn disorder of amino acid and other organic acid metabolism UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016543 MONDO:0037871 False hyperphenylalaninemia due to tetrahydrobiopterin deficiency amino acid metabolism disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016544 MONDO:0017287 False IgG4-related mesenteritis IgG4-related disease UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016545 MONDO:0006025 False leukoencephalopathy-palmoplantar keratoderma syndrome autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016546 MONDO:0005395 False primary orthostatic tremor movement disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016547 MONDO:0007534 False Beckwith-Wiedemann syndrome due to NSD1 mutation Beckwith-Wiedemann syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016548 MONDO:0002118 False megacystis-megaureter syndrome urinary system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016549 MONDO:0018960 False primary megaureter, adult-onset form congenital primary megaureter UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016550 MONDO:0018960 False congenital primary megaureter, obstructed form congenital primary megaureter UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016551 MONDO:0018960 False congenital primary megaureter, refluxing form congenital primary megaureter UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016552 MONDO:0018960 False congenital primary megaureter, nonrefluxing and unobstructed form congenital primary megaureter UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016553 MONDO:0015770 False isolated congenital hypogonadotropic hypogonadism congenital hypogonadotropic hypogonadism UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016554 MONDO:0005151 False neonatal iodine exposure endocrine system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016555 MONDO:0015792 False transient congenital hypothyroidism due to maternal factor transient congenital hypothyroidism UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016556 MONDO:0015792 False transient congenital hypothyroidism due to neonatal factor transient congenital hypothyroidism UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016557 MONDO:0019284 False leukonychia totalis inherited isolated nail anomaly UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016558 MONDO:0002320 False familial congenital mirror movements congenital nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0016558 MONDO:0003847 False familial congenital mirror movements hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0016558 MONDO:0005395 False familial congenital mirror movements movement disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0016559 MONDO:0009633 False glaucoma secondary to spherophakia/ectopia lentis and megalocornea microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016559 MONDO:0018174 False glaucoma secondary to spherophakia/ectopia lentis and megalocornea hereditary glaucoma UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016560 MONDO:0015159 False ptosis-syndactyly-learning difficulties syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016561 MONDO:0022756 False 1q44 microdeletion syndrome chromosome 1q deletion UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016562 MONDO:0020488 False progressive supranuclear palsy-pure akinesia with gait freezing syndrome atypical progressive supranuclear palsy syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016563 MONDO:0020488 False progressive supranuclear palsy-corticobasal syndrome atypical progressive supranuclear palsy syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016564 MONDO:0020488 False progressive supranuclear palsy-progressive non-fluent aphasia syndrome atypical progressive supranuclear palsy syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016567 MONDO:0005071 False locked-in syndrome nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0016568 MONDO:0002254 False Lowe-Kohn-Cohen syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016568 MONDO:0021147 False Lowe-Kohn-Cohen syndrome disorder of development or morphogenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016570 MONDO:0017207 False primary pulmonary lymphoma primary organ-specific lymphoma UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016571 MONDO:0002320 False macrocephaly-short stature-paraplegia syndrome congenital nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016571 MONDO:0015159 False macrocephaly-short stature-paraplegia syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016571 MONDO:0020022 False macrocephaly-short stature-paraplegia syndrome central nervous system malformation UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016572 MONDO:0017094 False central bilateral macrogyria cerebral cortical dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016573 MONDO:0020683 False acute fatty liver of pregnancy acute disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016573 MONDO:0024575 False acute fatty liver of pregnancy pregnancy disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016574 MONDO:0019288 False hypo- and hypermelanotic cutaneous macules-retarded growth-intellectual disability syndrome skin pigmentation disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016575 MONDO:0005087 False primary ciliary dyskinesia respiratory system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0016575 MONDO:0005308 False primary ciliary dyskinesia ciliopathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0016576 MONDO:0003847 False split hand-foot malformation hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0016576 MONDO:0018234 False split hand-foot malformation dysostosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0016577 MONDO:0021147 False biliary atresia with splenic malformation syndrome disorder of development or morphogenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016580 MONDO:0005087 False congenital pulmonary airway malformation respiratory system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016580 MONDO:0021147 False congenital pulmonary airway malformation disorder of development or morphogenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016581 MONDO:0019512 False conotruncal heart malformations congenital heart malformation UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016582 MONDO:0019512 False congenital mitral malformation congenital heart malformation UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016584 MONDO:0015161 False mandibuloacral dysplasia multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016584 MONDO:0015327 False mandibuloacral dysplasia developmental anomaly of metabolic origin UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016584 MONDO:0019707 False mandibuloacral dysplasia primary osteolysis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016584 MONDO:0020087 False mandibuloacral dysplasia hereditary lipodystrophy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016587 MONDO:0000591 False arrhythmogenic right ventricular cardiomyopathy intrinsic cardiomyopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0016588 MONDO:0029000 False infantile mercury poisoning poisoning UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016591 MONDO:0016593 False sporadic adult-onset ataxia of unknown etiology acquired ataxia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016593 MONDO:0100308 False acquired ataxia atactic disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016594 MONDO:0005559 False superficial siderosis neurodegenerative disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016595 MONDO:0005119 False inhalational anthrax anthrax infection UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0016596 MONDO:0015327 False hyperphosphatasia-intellectual disability syndrome developmental anomaly of metabolic origin UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016596 MONDO:0015905 False hyperphosphatasia-intellectual disability syndrome syndromic dyslipidemia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016596 MONDO:0017748 False hyperphosphatasia-intellectual disability syndrome inborn disorder of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016596 MONDO:0019054 False hyperphosphatasia-intellectual disability syndrome congenital limb malformation UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016598 MONDO:0016540 False autosomal recessive secondary polycythemia not associated with VHL gene congenital secondary polycythemia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016600 MONDO:0008988 False acute neonatal citrullinemia type I citrullinemia type I UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016600 MONDO:0020683 False acute neonatal citrullinemia type I acute disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016601 MONDO:0008988 False adult-onset citrullinemia type I citrullinemia type I UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016602 MONDO:0015991 False citrin deficiency citrullinemia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016602 MONDO:0800153 False citrin deficiency urea cycle disorder or inherited hyperammonemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016603 MONDO:0016602 False citrullinemia type II citrin deficiency UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016604 MONDO:0003847 False dysraphism-cleft lip/palate-limb reduction defects syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016605 MONDO:0018570 False perinatal lethal hypophosphatasia hypophosphatasia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016608 MONDO:0005560 False megalencephaly brain disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016608 MONDO:0021147 False megalencephaly disorder of development or morphogenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016609 MONDO:0020122 False inflammatory myopathy with abundant macrophages acquired idiopathic inflammatory myopathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016610 MONDO:0020122 False idiopathic eosinophilic myositis acquired idiopathic inflammatory myopathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016611 MONDO:0044335 False lipoblastoma benign soft tissue neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016612 MONDO:0000425 False X-linked cerebellar ataxia X-linked disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0016612 MONDO:0100310 False X-linked cerebellar ataxia hereditary cerebellar ataxia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016613 MONDO:0021056 False APC-related attenuated familial adenomatous polyposis familial adenomatous polyposis 1 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016614 MONDO:0020044 False autosomal recessive ataxia due to PEX10 deficiency autosomal recessive metabolic cerebellar ataxia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016619 MONDO:0006025 False autosomal recessive hypohidrotic ectodermal dysplasia autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016619 MONDO:0016535 False autosomal recessive hypohidrotic ectodermal dysplasia hypohidrotic ectodermal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016620 MONDO:0002254 False primary hypertrophic osteoarthropathy syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0016620 MONDO:0003847 False primary hypertrophic osteoarthropathy hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0016621 MONDO:0007739 False juvenile Huntington disease Huntington disease UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016622 MONDO:0002254 False Melhem-Fahl syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016622 MONDO:0003847 False Melhem-Fahl syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016622 MONDO:0018234 False Melhem-Fahl syndrome dysostosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016624 MONDO:0001639 False inherited deficiency anemia deficiency anemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016624 MONDO:0003847 False inherited deficiency anemia hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016625 MONDO:0001639 False acquired deficiency anemia deficiency anemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -25409,181 +27763,89 @@ MONDO:0016630 MONDO:0100241 False isolated delta-storage pool disease inherited MONDO:0016638 MONDO:0008737 False familial hypodysfibrinogenemia congenital afibrinogenemia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016639 MONDO:0002254 False lower limb deficiency-hypospadias syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016641 MONDO:0003847 False limb transversal defect-cardiac anomaly syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016641 MONDO:0018234 False limb transversal defect-cardiac anomaly syndrome dysostosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016641 MONDO:0019054 False limb transversal defect-cardiac anomaly syndrome congenital limb malformation UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016643 MONDO:0003847 False frontonasal dysplasia hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0016643 MONDO:0018234 False frontonasal dysplasia dysostosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0016644 MONDO:0019806 False logopenic progressive aphasia primary progressive aphasia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016646 MONDO:0016387 False autosomal dominant optic atrophy and peripheral neuropathy mitochondrial oxidative phosphorylation disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016646 MONDO:0020250 False autosomal dominant optic atrophy and peripheral neuropathy autosomal dominant optic atrophy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016648 MONDO:0005516 False multiple epiphyseal dysplasia osteochondrodysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0016648 MONDO:0018230 False multiple epiphyseal dysplasia skeletal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016649 MONDO:0006025 False Warburg micro syndrome autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0016649 MONDO:0015159 False Warburg micro syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016649 MONDO:0016073 False Warburg micro syndrome syndromic microphthalmia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS -MONDO:0016649 MONDO:0018838 False Warburg micro syndrome lissencephaly spectrum disorders UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS MONDO:0016650 MONDO:0700008 False paternal uniparental disomy of chromosome 1 chromosome 1 disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016650 MONDO:0700086 False paternal uniparental disomy of chromosome 1 uniparental disomy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016651 MONDO:0700008 False maternal uniparental disomy of chromosome 1 chromosome 1 disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016651 MONDO:0700086 False maternal uniparental disomy of chromosome 1 uniparental disomy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016652 MONDO:0016901 False 2q31.1 microdeletion syndrome partial deletion of the long arm of chromosome 2 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016653 MONDO:0016901 False 2q33.1 microdeletion syndrome partial deletion of the long arm of chromosome 2 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016654 MONDO:0700012 False ring chromosome 5 chromosome 5 disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016654 MONDO:0700091 False ring chromosome 5 ring chromosome disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016655 MONDO:0016888 False 6p22 microdeletion syndrome partial deletion of the short arm of chromosome 6 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016656 MONDO:0016906 False 7q31 microdeletion syndrome partial deletion of the long arm of chromosome 7 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016657 MONDO:0016890 False 8p11.2 deletion syndrome partial deletion of the short arm of chromosome 8 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016658 MONDO:0002254 False 8p23.1 microdeletion syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016658 MONDO:0016890 False 8p23.1 microdeletion syndrome partial deletion of the short arm of chromosome 8 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016659 MONDO:0016945 False 8p23.1 duplication syndrome partial duplication of the short arm of chromosome 8 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016660 MONDO:0006025 False autosomal recessive primary microcephaly autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0016660 MONDO:0016056 False autosomal recessive primary microcephaly isolated congenital microcephaly UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0016660 MONDO:0100500 False autosomal recessive primary microcephaly Mendelian neurodevelopmental disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016661 MONDO:0019751 False infantile onset panniculitis with uveitis and systemic granulomatosis autoinflammatory syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016662 MONDO:0019751 False idiopathic recurrent pericarditis autoinflammatory syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016662 MONDO:0700007 False idiopathic recurrent pericarditis idiopathic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016663 MONDO:0003900 False overlapping connective tissue disease connective tissue disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016663 MONDO:0007179 False overlapping connective tissue disease autoimmune disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016664 MONDO:0018640 False drug-induced vasculitis secondary vasculitis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016666 MONDO:0005554 False unexplained long-lasting fever/inflammatory syndrome rheumatic disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016668 MONDO:0002254 False sickle cell-beta-thalassemia disease syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016669 MONDO:0002254 False sickle cell-hemoglobin c disease syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016669 MONDO:0011382 False sickle cell-hemoglobin c disease syndrome sickle cell anemia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016670 MONDO:0002254 False sickle cell-hemoglobin d disease syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016670 MONDO:0019050 False sickle cell-hemoglobin d disease syndrome inherited hemoglobinopathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016671 MONDO:0002254 False sickle cell-hemoglobin E disease syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016671 MONDO:0019050 False sickle cell-hemoglobin E disease syndrome inherited hemoglobinopathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016672 MONDO:0002254 False hereditary persistence of fetal hemoglobin-sickle cell disease syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016672 MONDO:0019050 False hereditary persistence of fetal hemoglobin-sickle cell disease syndrome inherited hemoglobinopathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016673 MONDO:0009180 False localized junctional epidermolysis bullosa, non-Herlitz type junctional epidermolysis bullosa, non-Herlitz type UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016674 MONDO:0020040 False 46,XY partial gonadal dysgenesis 46,XY disorder of sex development UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016676 MONDO:0008691 False recurrent infections-inflammatory syndrome due to zinc metabolism disorder syndrome zinc, elevated plasma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016676 MONDO:0017764 False recurrent infections-inflammatory syndrome due to zinc metabolism disorder syndrome disorder of zinc metabolism UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016677 MONDO:0019755 False toxic or drug-related embryofetopathy developmental defect during embryogenesis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016681 MONDO:0002501 False gliosarcoma brain glioblastoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0016682 MONDO:0002501 False giant cell glioblastoma brain glioblastoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0016683 MONDO:0005499 False gliomatosis cerebri brain glioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0016683 MONDO:0016680 False gliomatosis cerebri high grade astrocytic tumor UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016685 MONDO:0019781 False low-grade astrocytoma astrocytoma (excluding glioblastoma) UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016685 MONDO:0021638 False low-grade astrocytoma low grade astrocytic tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016686 MONDO:0016685 False diffuse astrocytoma low-grade astrocytoma UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016690 MONDO:0016685 False pleomorphic xanthoastrocytoma low-grade astrocytoma UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016691 MONDO:0016685 False pilocytic astrocytoma low-grade astrocytoma UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016692 MONDO:0016691 False pilomyxoid astrocytoma pilocytic astrocytoma UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0016693 MONDO:0007667 False subependymal giant cell astrocytoma subependymoma UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0016693 MONDO:0016685 False subependymal giant cell astrocytoma low-grade astrocytoma UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016697 MONDO:0016698 False low grade ependymoma ependymoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016703 MONDO:0016702 False anaplastic oligoastrocytoma oligoastrocytoma UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016706 MONDO:0002786 False chordoid glioma of the third ventricle diencephalic cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0016706 MONDO:0005499 False chordoid glioma of the third ventricle brain glioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0016706 MONDO:0021639 False chordoid glioma of the third ventricle grade II glioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016715 MONDO:0000640 False ependymoblastoma central nervous system primitive neuroectodermal neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0016715 MONDO:0016713 False ependymoblastoma central nervous system Ewing sarcoma/peripheral primitive neuroectodermal tumor UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016719 MONDO:0015159 False microcephaly-seizures-intellectual disability-heart disease syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016723 MONDO:0000627 False pineocytoma benign endocrine neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0016731 MONDO:0016729 False desmoplastic infantile astrocytoma/ganglioglioma mixed neuronal-glial tumor UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016734 MONDO:0016733 False anaplastic ganglioglioma ganglioglioma UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016742 MONDO:0000524 False mixed germ cell tumor of central nervous system mixed extragonadal germ cell cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016745 MONDO:0016743 False diffuse leptomeningeal melanocytosis tumor of meninges UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016748 MONDO:0000648 False hemangioblastoma nervous system benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0016748 MONDO:0002407 False hemangioblastoma capillary hemangioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0016748 MONDO:0043218 False hemangioblastoma neurovascular disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016749 MONDO:0021248 False tumor of cranial and spinal nerves nervous system neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016750 MONDO:0015159 False microcephaly-cleft palate syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016751 MONDO:0019404 False malignant perineurioma perineurioma UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016751 MONDO:0100342 False malignant perineurioma malignant glioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016752 MONDO:0016749 False benign peripheral nerve sheath tumor tumor of cranial and spinal nerves UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016755 MONDO:0016752 False neurofibroma benign peripheral nerve sheath tumor UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016758 MONDO:0002254 False microcephaly-brain defect-spasticity-hypernatremia syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016759 MONDO:0016113 False pontocerebellar hypoplasia type 2 bulbospinal muscular atrophy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016759 MONDO:0020135 False pontocerebellar hypoplasia type 2 pontocerebellar hypoplasia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0016759 MONDO:0024257 False pontocerebellar hypoplasia type 2 hereditary motor neuron disease UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016760 MONDO:0002254 False microcephaly-microcornea syndrome, Seemanova type syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016760 MONDO:0015159 False microcephaly-microcornea syndrome, Seemanova type multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016760 MONDO:0024458 False microcephaly-microcornea syndrome, Seemanova type disorder of visual system UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016761 MONDO:0005516 False spondyloepiphyseal dysplasia osteochondrodysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0016761 MONDO:0018230 False spondyloepiphyseal dysplasia skeletal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016762 MONDO:0005328 False microcornea-corectopia-macular hypoplasia syndrome eye disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016763 MONDO:0018230 False spondylometaphyseal dysplasia skeletal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016764 MONDO:0005328 False isolated anophthalmia-microphthalmia syndrome eye disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016765 MONDO:0016897 False 19p13.12 microdeletion syndrome partial deletion of the short arm of chromosome 19 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016769 MONDO:0006572 False linear lichen planus lichen planus UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016770 MONDO:0006572 False actinic lichen planus lichen planus UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016771 MONDO:0006572 False annular atrophic lichen planus lichen planus UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016772 MONDO:0006572 False annular lichen planus lichen planus UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016773 MONDO:0006572 False atrophic lichen planus lichen planus UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016774 MONDO:0006572 False lichen planus pigmentosus lichen planus UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016775 MONDO:0006572 False lichen planus pemphigoides lichen planus UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016776 MONDO:0004907 False frontal fibrosing alopecia alopecia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016777 MONDO:0005498 False inhalational botulism botulism UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016778 MONDO:0043544 False iatrogenic botulism nosocomial infection UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016779 MONDO:0015159 False multiple congenital anomalies due to 14q32.2 maternally expressed gene defect multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016779 MONDO:0100499 False multiple congenital anomalies due to 14q32.2 maternally expressed gene defect multiple congenital anomalies due to 14q32.2 imprinting defect UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016780 MONDO:0014541 False paternal 14q32.2 microdeletion syndrome motor developmental delay due to 14q32.2 paternally expressed gene defect UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016780 MONDO:0016912 False paternal 14q32.2 microdeletion syndrome partial deletion of the long arm of chromosome 14 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016781 MONDO:0016779 False maternal 14q32.2 microdeletion syndrome multiple congenital anomalies due to 14q32.2 maternally expressed gene defect UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016782 MONDO:0014541 False paternal 14q32.2 hypomethylation syndrome motor developmental delay due to 14q32.2 paternally expressed gene defect UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016783 MONDO:0016779 False maternal 14q32.2 hypermethylation syndrome multiple congenital anomalies due to 14q32.2 maternally expressed gene defect UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016789 MONDO:0019189 False pyruvate metabolism disorder inborn disorder of amino acid and other organic acid metabolism UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016789 MONDO:0019243 False pyruvate metabolism disorder inborn disorder of energy metabolism UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016789 MONDO:0045022 False pyruvate metabolism disorder disorder of organic acid metabolism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016790 MONDO:0019243 False tricarboxylic acid cycle disorder inborn disorder of energy metabolism UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016796 MONDO:0018158 False mitochondrial DNA depletion syndrome, encephalomyopathic form mitochondrial DNA depletion syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016798 MONDO:0016387 False ataxia neuropathy spectrum mitochondrial oxidative phosphorylation disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016800 MONDO:0004069 False mitochondrial membrane transport disorder inborn mitochondrial metabolism disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016801 MONDO:0016800 False mitochondrial substrate carrier disorder mitochondrial membrane transport disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016802 MONDO:0016800 False mitochondrial protein import disorder mitochondrial membrane transport disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016806 MONDO:0016387 False maternally-inherited mitochondrial dystonia mitochondrial oxidative phosphorylation disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016807 MONDO:0044970 False pure mitochondrial myopathy mitochondrial disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016809 MONDO:0011835 False spinocerebellar ataxia with epilepsy sensory ataxic neuropathy, dysarthria, and ophthalmoparesis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016810 MONDO:0005181 False autosomal recessive progressive external ophthalmoplegia progressive external ophthalmoplegia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016810 MONDO:0006025 False autosomal recessive progressive external ophthalmoplegia autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016811 MONDO:0007415 False renal tubulopathy-encephalopathy-liver failure syndrome mitochondrial complex III deficiency nuclear type 1 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016812 MONDO:0005066 False dopa-responsive dystonia metabolic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016812 MONDO:0005071 False dopa-responsive dystonia nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016814 MONDO:0009723 False maternally-inherited Leigh syndrome Leigh syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016817 MONDO:0002254 False Meier-Gorlin syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0016817 MONDO:0006025 False Meier-Gorlin syndrome autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0016817 MONDO:0015160 False Meier-Gorlin syndrome multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016818 MONDO:0002254 False Mikati-Najjar-Sahli syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016819 MONDO:0015770 False Moebius syndrome-axonal neuropathy-hypogonadotropic hypogonadism syndrome congenital hypogonadotropic hypogonadism UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016820 MONDO:0003847 False Moyamoya disease hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0016820 MONDO:0006693 False Moyamoya disease cerebral arterial disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0016821 MONDO:0002254 False shoulder and girdle defects-familial intellectual disability syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016822 MONDO:0005554 False myalgia-eosinophilia syndrome associated with tryptophan rheumatic disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016823 MONDO:0019296 False mycetoma subcutaneous tissue disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016824 MONDO:0023603 False infantile myofibromatosis hereditary disorder of connective tissue UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016824 MONDO:0044335 False infantile myofibromatosis benign soft tissue neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016825 MONDO:0009637 False mitochondrial myopathy-lactic acidosis-deafness syndrome inborn mitochondrial myopathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016826 MONDO:0002012 False methylmalonic aciduria and homocystinuria methylmalonic acidemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016826 MONDO:0004737 False methylmalonic aciduria and homocystinuria homocystinuria UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016826 MONDO:0016624 False methylmalonic aciduria and homocystinuria inherited deficiency anemia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016826 MONDO:0019215 False methylmalonic aciduria and homocystinuria classic organic aciduria UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016826 MONDO:0019220 False methylmalonic aciduria and homocystinuria inborn disorder of cobalamin metabolism and transport UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016827 MONDO:0002254 False myopathy-growth delay-intellectual disability-hypospadias syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016828 MONDO:0006025 False autosomal recessive sideroblastic anemia autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016828 MONDO:0020099 False autosomal recessive sideroblastic anemia inherited sideroblastic anemia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016829 MONDO:0020754 False familial visceral myopathy visceral myopathy 1 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016829 MONDO:0021189 False familial visceral myopathy intestinal motility disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016830 MONDO:0016106 False Emery-Dreifuss muscular dystrophy progressive muscular dystrophy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016830 MONDO:0016333 False Emery-Dreifuss muscular dystrophy familial dilated cardiomyopathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0016831 MONDO:0005073 False linear verrucous nevus syndrome melanocytic nevus UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016832 MONDO:0012342 False distal 7q11.23 microduplication syndrome 7q11.23 microduplication syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016833 MONDO:0016912 False 14q12 microdeletion syndrome partial deletion of the long arm of chromosome 14 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016834 MONDO:0016949 False 16p11.2p12.2 microduplication syndrome partial duplication of the short arm of chromosome 16 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016835 MONDO:0016964 False 14q11.2 microduplication syndrome partial duplication of the long arm of chromosome 14 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016836 MONDO:0016894 False 16p13.11 microdeletion syndrome partial deletion of the short arm of chromosome 16 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016837 MONDO:0016949 False 16p13.11 microduplication syndrome partial duplication of the short arm of chromosome 16 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016838 MONDO:0016914 False 16q24.3 microdeletion syndrome partial deletion of the long arm of chromosome 16 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016839 MONDO:0022754 False distal 17p13.3 microdeletion syndrome chromosome 17p deletion UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016840 MONDO:0016950 False trisomy 17p partial duplication of the short arm of chromosome 17 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016841 MONDO:0016898 False 20p12.3 microdeletion syndrome partial monosomy of the short arm of chromosome 20 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016842 MONDO:0016918 False paternal 20q13.2q13.3 microdeletion syndrome partial deletion of the long arm of chromosome 20 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016843 MONDO:0016918 False 20q13.33 microdeletion syndrome partial deletion of the long arm of chromosome 20 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016844 MONDO:0016938 False trisomy 20p partial trisomy of chromosome 20 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016845 MONDO:0016919 False 21q22.11q22.12 microdeletion syndrome partial deletion of the long arm of chromosome 21 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016846 MONDO:0012020 False distal 22q11.2 microduplication syndrome chromosome 22q11.2 microduplication syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016847 MONDO:0016952 False trisomy 1q partial duplication of the long arm of chromosome 1 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016848 MONDO:0043494 False juvenile temporal arteritis arteritis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016850 MONDO:0017004 False atypical Norrie disease due to monosomy Xp11.3 partial monosomy of the short arm of chromosome X UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016851 MONDO:0700027 False maternal uniparental disomy of chromosome X chromosome X disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016851 MONDO:0700086 False maternal uniparental disomy of chromosome X uniparental disomy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016852 MONDO:0700027 False paternal uniparental disomy of chromosome X chromosome X disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -25593,21 +27855,10 @@ MONDO:0016853 MONDO:0700091 False ring chromosome Y ring chromosome disorder UNS MONDO:0016854 MONDO:0700027 False 49,XXXYY syndrome chromosome X disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016854 MONDO:0700028 False 49,XXXYY syndrome chromosome Y disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016854 MONDO:0700064 False 49,XXXYY syndrome aneuploidy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016855 MONDO:0009341 False Mowat-Wilson syndrome due to monosomy 2q22 Mowat-Wilson syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016855 MONDO:0016901 False Mowat-Wilson syndrome due to monosomy 2q22 partial deletion of the long arm of chromosome 2 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016856 MONDO:0009341 False Mowat-Wilson syndrome due to a ZEB2 point mutation Mowat-Wilson syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016857 MONDO:0007201 False blepharophimosis-epicanthus inversus-ptosis due to 3q23 rearrangement syndrome blepharophimosis, ptosis, and epicanthus inversus syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016857 MONDO:0016902 False blepharophimosis-epicanthus inversus-ptosis due to 3q23 rearrangement syndrome partial deletion of the long arm of chromosome 3 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016858 MONDO:0007201 False blepharophimosis-epicanthus inversus-ptosis due to a point mutation syndrome blepharophimosis, ptosis, and epicanthus inversus syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016859 MONDO:0007201 False blepharophimosis-epicanthus inversus-ptosis due to copy number variations blepharophimosis, ptosis, and epicanthus inversus syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016860 MONDO:0016904 False familial adenomatous polyposis due to 5q22.2 microdeletion partial deletion of the long arm of chromosome 5 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016860 MONDO:0021055 False familial adenomatous polyposis due to 5q22.2 microdeletion classic familial adenomatous polyposis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016861 MONDO:0007318 False Alagille syndrome due to 20p12 microdeletion Alagille syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016861 MONDO:0016898 False Alagille syndrome due to 20p12 microdeletion partial monosomy of the short arm of chromosome 20 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016863 MONDO:0011812 False Okihiro syndrome due to 20q13 microdeletion Duane-radial ray syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016863 MONDO:0016918 False Okihiro syndrome due to 20q13 microdeletion partial deletion of the long arm of chromosome 20 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016864 MONDO:0011812 False Okihiro syndrome due to a point mutation Duane-radial ray syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016865 MONDO:0012455 False Kleefstra syndrome due to a point mutation Kleefstra syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016866 MONDO:0000761 False partial deletion of chromosome 1 syndrome caused by partial chromosomal deletion UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016866 MONDO:0700008 False partial deletion of chromosome 1 chromosome 1 disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016867 MONDO:0000761 False partial deletion of chromosome 2 syndrome caused by partial chromosomal deletion UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -25630,7 +27881,6 @@ MONDO:0016875 MONDO:0000761 False partial deletion of chromosome 10 syndrome cau MONDO:0016875 MONDO:0700017 False partial deletion of chromosome 10 chromosome 10 disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016876 MONDO:0000761 False partial deletion of chromosome 11 syndrome caused by partial chromosomal deletion UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016876 MONDO:0700018 False partial deletion of chromosome 11 chromosome 11 disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016877 MONDO:0017277 False partial deletion of the long arm of chromosome 12 partial deletion of chromosome 12 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016878 MONDO:0000761 False partial deletion of chromosome 16 syndrome caused by partial chromosomal deletion UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016878 MONDO:0700023 False partial deletion of chromosome 16 chromosome 16 disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016879 MONDO:0000761 False partial deletion of chromosome 17 syndrome caused by partial chromosomal deletion UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -25641,35 +27891,9 @@ MONDO:0016881 MONDO:0000761 False partial deletion of chromosome 19 syndrome cau MONDO:0016881 MONDO:0700024 False partial deletion of chromosome 19 chromosome 19 disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016882 MONDO:0000761 False partial deletion of chromosome 20 syndrome caused by partial chromosomal deletion UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016882 MONDO:0700025 False partial deletion of chromosome 20 chromosome 20 disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016883 MONDO:0016866 False partial deletion of the short arm of chromosome 1 partial deletion of chromosome 1 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016884 MONDO:0016867 False partial deletion of the short arm of chromosome 2 partial deletion of chromosome 2 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016885 MONDO:0016868 False partial deletion of the short arm of chromosome 3 partial deletion of chromosome 3 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016887 MONDO:0016870 False partial deletion of the short arm of chromosome 5 partial deletion of chromosome 5 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016888 MONDO:0016871 False partial deletion of the short arm of chromosome 6 partial deletion of chromosome 6 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016889 MONDO:0016872 False partial deletion of the short arm of chromosome 7 partial deletion of chromosome 7 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016890 MONDO:0016873 False partial deletion of the short arm of chromosome 8 partial deletion of chromosome 8 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016892 MONDO:0016875 False partial deletion of the short arm of chromosome 10 partial deletion of chromosome 10 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016893 MONDO:0016876 False partial deletion of the short arm of chromosome 11 partial deletion of chromosome 11 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016894 MONDO:0016878 False partial deletion of the short arm of chromosome 16 partial deletion of chromosome 16 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016897 MONDO:0016881 False partial deletion of the short arm of chromosome 19 partial deletion of chromosome 19 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016898 MONDO:0016882 False partial monosomy of the short arm of chromosome 20 partial deletion of chromosome 20 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016901 MONDO:0016867 False partial deletion of the long arm of chromosome 2 partial deletion of chromosome 2 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016902 MONDO:0016868 False partial deletion of the long arm of chromosome 3 partial deletion of chromosome 3 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016903 MONDO:0016869 False partial deletion of the long arm of chromosome 4 partial deletion of chromosome 4 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016904 MONDO:0016870 False partial deletion of the long arm of chromosome 5 partial deletion of chromosome 5 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016905 MONDO:0016871 False partial deletion of the long arm of chromosome 6 partial deletion of chromosome 6 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016906 MONDO:0016872 False partial deletion of the long arm of chromosome 7 partial deletion of chromosome 7 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016907 MONDO:0016873 False partial deletion of the long arm of chromosome 8 partial deletion of chromosome 8 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016908 MONDO:0016874 False partial monosomy of the long arm of chromosome 9 partial deletion of chromosome 9 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016909 MONDO:0016875 False partial monosomy of the long arm of chromosome 10 partial deletion of chromosome 10 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016910 MONDO:0016876 False partial deletion of the long arm of chromosome 11 partial deletion of chromosome 11 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016911 MONDO:0000761 False partial deletion of the long arm of chromosome 13 syndrome caused by partial chromosomal deletion UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016912 MONDO:0000761 False partial deletion of the long arm of chromosome 14 syndrome caused by partial chromosomal deletion UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016913 MONDO:0000761 False partial deletion of the long arm of chromosome 15 syndrome caused by partial chromosomal deletion UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016914 MONDO:0016878 False partial deletion of the long arm of chromosome 16 partial deletion of chromosome 16 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016915 MONDO:0016879 False partial deletion of the long arm of chromosome 17 partial deletion of chromosome 17 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016917 MONDO:0016881 False partial deletion of the long arm of chromosome 19 partial deletion of chromosome 19 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016918 MONDO:0016882 False partial deletion of the long arm of chromosome 20 partial deletion of chromosome 20 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016919 MONDO:0000761 False partial deletion of the long arm of chromosome 21 syndrome caused by partial chromosomal deletion UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016921 MONDO:0000762 False partial duplication of chromosome 1 syndrome caused by partial chromosomal duplication UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016921 MONDO:0700008 False partial duplication of chromosome 1 chromosome 1 disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -25704,273 +27928,114 @@ MONDO:0016937 MONDO:0000762 False partial duplication of chromosome 19 syndrome MONDO:0016937 MONDO:0700024 False partial duplication of chromosome 19 chromosome 19 disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016938 MONDO:0000762 False partial trisomy of chromosome 20 syndrome caused by partial chromosomal duplication UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016938 MONDO:0700025 False partial trisomy of chromosome 20 chromosome 20 disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016939 MONDO:0016922 False partial duplication of the short arm of chromosome 2 partial duplication of chromosome 2 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016940 MONDO:0016923 False partial duplication of the short arm of chromosome 3 partial duplication of chromosome 3 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016941 MONDO:0016924 False partial duplication of the short arm of chromosome 4 partial duplication of chromosome 4 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016942 MONDO:0016925 False partial trisomy/tetrasomy of the short arm of chromosome 5 partial trisomy/tetrasomy of chromosome 5 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016943 MONDO:0016927 False partial duplication of the short arm of chromosome 6 partial duplication of chromosome 6 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016944 MONDO:0016928 False partial duplication of the short arm of chromosome 7 partial duplication of chromosome 7 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016945 MONDO:0016929 False partial duplication of the short arm of chromosome 8 partial duplication of chromosome 8 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016947 MONDO:0016931 False partial duplication of the short arm of chromosome 10 partial duplication of chromosome 10 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016948 MONDO:0016932 False partial duplication of the short arm of chromosome 11 partial duplication of chromosome 11 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016949 MONDO:0016934 False partial duplication of the short arm of chromosome 16 partial duplication of chromosome 16 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016950 MONDO:0016935 False partial duplication of the short arm of chromosome 17 partial duplication of chromosome 17 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016951 MONDO:0016936 False partial trisomy/tetrasomy of the short arm of chromosome 18 partial trisomy/tetrasomy of chromosome 18 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016952 MONDO:0016921 False partial duplication of the long arm of chromosome 1 partial duplication of chromosome 1 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016953 MONDO:0016922 False partial duplication of the long arm of chromosome 2 partial duplication of chromosome 2 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016954 MONDO:0016923 False partial duplication of the long arm of chromosome 3 partial duplication of chromosome 3 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016955 MONDO:0016924 False partial duplication of the long arm of chromosome 4 partial duplication of chromosome 4 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016956 MONDO:0016925 False partial trisomy of the long arm of chromosome 5 partial trisomy/tetrasomy of chromosome 5 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016957 MONDO:0016927 False partial duplication of the long arm of chromosome 6 partial duplication of chromosome 6 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016958 MONDO:0016928 False partial duplication of the long arm of chromosome 7 partial duplication of chromosome 7 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016959 MONDO:0016929 False partial duplication of the long arm of chromosome 8 partial duplication of chromosome 8 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016960 MONDO:0016930 False partial trisomy of the long arm of chromosome 9 partial trisomy/tetrasomy of chromosome 9 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016961 MONDO:0016931 False partial duplication of the long arm of chromosome 10 partial duplication of chromosome 10 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016964 MONDO:0000762 False partial duplication of the long arm of chromosome 14 syndrome caused by partial chromosomal duplication UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016965 MONDO:0000762 False partial duplication of the long arm of chromosome 15 syndrome caused by partial chromosomal duplication UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016966 MONDO:0016934 False partial trisomy of the long arm of chromosome 16 partial duplication of chromosome 16 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016967 MONDO:0016935 False partial duplication of the long arm of chromosome 17 partial duplication of chromosome 17 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016968 MONDO:0016936 False partial trisomy of the long arm of chromosome 18 partial trisomy/tetrasomy of chromosome 18 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016969 MONDO:0016937 False partial duplication of the long arm of chromosome 19 partial duplication of chromosome 19 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016970 MONDO:0016938 False partial trisomy of the long arm of chromosome 20 partial trisomy of chromosome 20 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016971 MONDO:0016106 False limb-girdle muscular dystrophy progressive muscular dystrophy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016972 MONDO:0000762 False partial duplication of the long arm of chromosome 22 syndrome caused by partial chromosomal duplication UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016974 MONDO:0004805 False thymoma type B leukocyte disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0016976 MONDO:0020516 False well-differentiated thymic neuroendocrine carcinoma thymic neuroendocrine carcinoma UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016977 MONDO:0020516 False moderately-differentiated thymic neuroendocrine carcinoma thymic neuroendocrine carcinoma UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016978 MONDO:0020516 False poorly differentiated thymic neuroendocrine carcinoma thymic neuroendocrine carcinoma UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016979 MONDO:0019118 False MRCS syndrome inherited retinal dystrophy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016980 MONDO:0020119 False ATR-X-related syndrome X-linked syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016981 MONDO:0017578 False infantile spams-psychomotor retardation-progressive brain atrophy-basal ganglia disease syndrome disorder of thiamine metabolism and transport UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016982 MONDO:0018078 False angiosarcoma soft tissue sarcoma UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016983 MONDO:0015231 False Bartter syndrome with hypocalcemia Bartter syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016984 MONDO:0005073 False nevus of Ota melanocytic nevus UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016985 MONDO:0005073 False nevus of Ito melanocytic nevus UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016986 MONDO:0006499 False congenital smooth muscle hamartoma hamartoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016987 MONDO:0005395 False neuroacanthocytosis movement disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0016987 MONDO:0015548 False neuroacanthocytosis Huntington disease-like syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016988 MONDO:0015624 False hyperinsulinism due to HNF4A deficiency diazoxide-sensitive diffuse hyperinsulinism UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016989 MONDO:0002254 False Fuchs heterochromic iridocyclitis syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0016989 MONDO:0017634 False Fuchs heterochromic iridocyclitis non-infectious anterior uveitis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016990 MONDO:0024307 False acquired prothrombin deficiency prothrombin deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016991 MONDO:0020067 False acute necrotizing encephalopathy of childhood infectious encephalitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016993 MONDO:0010033 False generalized peeling skin syndrome type C generalized peeling skin syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016994 MONDO:0002254 False microcephalic osteodysplastic primordial dwarfism types I and III syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016994 MONDO:0800063 False microcephalic osteodysplastic primordial dwarfism types I and III primordial dwarfism and slender bone disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016995 MONDO:0016743 False familial multiple meningioma tumor of meninges UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016996 MONDO:0005020 False NK-cell enteropathy intestinal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017003 MONDO:0000761 False partial deletion of chromosome X syndrome caused by partial chromosomal deletion UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017003 MONDO:0700027 False partial deletion of chromosome X chromosome X disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017004 MONDO:0017003 False partial monosomy of the short arm of chromosome X partial deletion of chromosome X UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017007 MONDO:0017003 False partial deletion of the long arm of chromosome X partial deletion of chromosome X UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017008 MONDO:0000762 False partial duplication of chromosome X syndrome caused by partial chromosomal duplication UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017008 MONDO:0700027 False partial duplication of chromosome X chromosome X disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017009 MONDO:0017008 False partial duplication of the short arm of chromosome X partial duplication of chromosome X UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017010 MONDO:0017008 False partial duplication of the long arm of chromosome X partial duplication of chromosome X UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017012 MONDO:0016921 False partial duplication of the short arm of chromosome 1 partial duplication of chromosome 1 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017013 MONDO:0016945 False trisomy 8p partial duplication of the short arm of chromosome 8 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017014 MONDO:0015925 False interstitial lung disease specific to childhood interstitial lung disease UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017015 MONDO:0017014 False primary interstitial lung disease specific to childhood interstitial lung disease specific to childhood UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017018 MONDO:0015925 False isolated pulmonary capillaritis interstitial lung disease UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017019 MONDO:0017015 False interstitial lung disease specific to infancy primary interstitial lung disease specific to childhood UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017026 MONDO:0015925 False interstitial lung disease specific to adulthood interstitial lung disease UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017029 MONDO:0017026 False Langerhans cell histiocytosis specific to adulthood interstitial lung disease specific to adulthood UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017029 MONDO:0021117 False Langerhans cell histiocytosis specific to adulthood lung neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017039 MONDO:0015925 False drug or radiation exposure-related interstitial lung disease interstitial lung disease UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017041 MONDO:0002254 False osteochondrodysplatic nanism-deafness-retinitis pigmentosa syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017041 MONDO:0003847 False osteochondrodysplatic nanism-deafness-retinitis pigmentosa syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017041 MONDO:0024458 False osteochondrodysplatic nanism-deafness-retinitis pigmentosa syndrome disorder of visual system UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017042 MONDO:0005516 False thanatophoric dysplasia osteochondrodysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0017042 MONDO:0019685 False thanatophoric dysplasia FGFR3-related chondrodysplasia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017043 MONDO:0003130 False congenital mesoblastic nephroma mesoblastic nephroma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017044 MONDO:0019741 False adult familial nephronophthisis-spastic quadriparesia syndrome familial cystic renal disease UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017045 MONDO:0015126 False neuroectodermal-endocrine syndrome polyendocrinopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017045 MONDO:0015159 False neuroectodermal-endocrine syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017048 MONDO:0018330 False pseudomyxoma peritonei mucinous adenocarcinoma of the appendix UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017051 MONDO:0009563 False classic maple syrup urine disease maple syrup urine disease UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017052 MONDO:0009563 False intermediate maple syrup urine disease maple syrup urine disease UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017053 MONDO:0009563 False intermittent maple syrup urine disease maple syrup urine disease UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017054 MONDO:0009563 False thiamine-responsive maple syrup urine disease maple syrup urine disease UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017055 MONDO:0016677 False mycophenolate mofetil embryopathy toxic or drug-related embryofetopathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017056 MONDO:0013578 False DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion DYRK1A-related intellectual disability syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017056 MONDO:0016919 False DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion partial deletion of the long arm of chromosome 21 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017058 MONDO:0006025 False autosomal recessive intermediate Charcot-Marie-Tooth disease autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017058 MONDO:0018778 False autosomal recessive intermediate Charcot-Marie-Tooth disease intermediate Charcot-Marie-Tooth disease UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017060 MONDO:0018968 False open iniencephaly iniencephaly UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017061 MONDO:0018968 False closed iniencephaly iniencephaly UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017062 MONDO:0019351 False spina bifida aperta isolated spina bifida UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017063 MONDO:0017062 False total spina bifida aperta spina bifida aperta UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017064 MONDO:0017062 False thoracolumbosacral spina bifida aperta spina bifida aperta UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017065 MONDO:0017062 False lumbosacral spina bifida aperta spina bifida aperta UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017066 MONDO:0017062 False cervical spina bifida aperta spina bifida aperta UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017067 MONDO:0017062 False cervicothoracic spina bifida aperta spina bifida aperta UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017068 MONDO:0017062 False upper thoracic spina bifida aperta spina bifida aperta UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017069 MONDO:0019351 False spina bifida cystica isolated spina bifida UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017070 MONDO:0019773 False total spina bifida cystica myelomeningocele UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017071 MONDO:0019773 False thoracolumbosacral spina bifida cystica myelomeningocele UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017072 MONDO:0019773 False lumbosacral spina bifida cystica myelomeningocele UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017073 MONDO:0019773 False cervical spina bifida cystica myelomeningocele UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017074 MONDO:0019773 False cervicothoracic spina bifida cystica myelomeningocele UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017075 MONDO:0019773 False upper thoracic spina bifida cystica myelomeningocele UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017076 MONDO:0017069 False posterior meningocele spina bifida cystica UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017077 MONDO:0017069 False myelocystocele spina bifida cystica UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017078 MONDO:0002320 False cephalocele congenital nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017078 MONDO:0021147 False cephalocele disorder of development or morphogenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017079 MONDO:0001147 False meningoencephalocele meningocele UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017079 MONDO:0005560 False meningoencephalocele brain disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017079 MONDO:0017078 False meningoencephalocele cephalocele UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017080 MONDO:0016057 False occipital encephalocele isolated encephalocele UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017081 MONDO:0016057 False parietal encephalocele isolated encephalocele UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017082 MONDO:0016057 False basal encephalocele isolated encephalocele UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017084 MONDO:0018075 False leptomyelolipoma neural tube defect UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017086 MONDO:0018075 False primary tethered cord syndrome neural tube defect UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017087 MONDO:0018075 False neurenteric cyst neural tube defect UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017088 MONDO:0018075 False isolated amyelia neural tube defect UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017089 MONDO:0016608 False isolated megalencephaly megalencephaly UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017091 MONDO:0000087 False bilateral polymicrogyria polymicrogyria UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017092 MONDO:0000087 False unilateral polymicrogyria polymicrogyria UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017093 MONDO:0017092 False unilateral focal polymicrogyria unilateral polymicrogyria UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017094 MONDO:0005560 False cerebral cortical dysplasia brain disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017094 MONDO:0021147 False cerebral cortical dysplasia disorder of development or morphogenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017095 MONDO:0019009 False isolated focal cortical dysplasia type I isolated focal cortical dysplasia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017096 MONDO:0017095 False isolated focal cortical dysplasia type Ia isolated focal cortical dysplasia type I UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017097 MONDO:0017095 False isolated focal cortical dysplasia type Ib isolated focal cortical dysplasia type I UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017098 MONDO:0017095 False isolated focal cortical dysplasia type Ic isolated focal cortical dysplasia type I UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017100 MONDO:0015134 False neutropenia-monocytopenia-deafness syndrome constitutional neutropenia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017101 MONDO:0011818 False isolated focal cortical dysplasia type IIa isolated focal cortical dysplasia type II UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017102 MONDO:0011818 False isolated focal cortical dysplasia type IIb isolated focal cortical dysplasia type II UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017103 MONDO:0005560 False encephaloclastic disorder brain disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017105 MONDO:0020022 False glioependymal/ependymal cyst central nervous system malformation UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017107 MONDO:0020022 False isolated cerebellar vermis agenesis central nervous system malformation UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017108 MONDO:0017107 False isolated total cerebellar vermis agenesis isolated cerebellar vermis agenesis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017109 MONDO:0017107 False isolated partial cerebellar vermis agenesis isolated cerebellar vermis agenesis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017110 MONDO:0009072 False isolated Dandy-Walker malformation with hydrocephalus Dandy-Walker syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017111 MONDO:0009072 False isolated Dandy-Walker malformation without hydrocephalus Dandy-Walker syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017112 MONDO:0020022 False isolated unilateral hemispheric cerebellar hypoplasia central nervous system malformation UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017113 MONDO:0020022 False isolated bilateral hemispheric cerebellar hypoplasia central nervous system malformation UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017116 MONDO:0016349 False congenital communicating hydrocephalus congenital hydrocephalus UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017117 MONDO:0016349 False congenital non-communicating hydrocephalus congenital hydrocephalus UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017123 MONDO:0002254 False arthrogryposis-renal dysfunction-cholestasis syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0017123 MONDO:0008823 False arthrogryposis-renal dysfunction-cholestasis syndrome arthrogryposis multiplex congenita 2, neurogenic type UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS MONDO:0017123 MONDO:0015327 False arthrogryposis-renal dysfunction-cholestasis syndrome developmental anomaly of metabolic origin UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017123 MONDO:0017755 False arthrogryposis-renal dysfunction-cholestasis syndrome inborn disorder of bilirubin metabolism UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017124 MONDO:0005113 False noma bacterial infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0017126 MONDO:0002254 False oculo-skeletal-renal syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017134 MONDO:0019287 False odonto-onycho dysplasia-alopecia syndrome ectodermal dysplasia syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017135 MONDO:0002254 False olivopontocerebellar atrophy-deafness syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017136 MONDO:0018230 False omodysplasia skeletal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017137 MONDO:0005943 False onchocerciasis Rhabditida infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017137 MONDO:0016075 False onchocerciasis filariasis UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0017137 MONDO:0100120 False onchocerciasis vector-borne disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017138 MONDO:0003847 False Opitz G/BBB syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0017138 MONDO:0008537 False Opitz G/BBB syndrome telecanthus UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING -MONDO:0017138 MONDO:0015159 False Opitz G/BBB syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017139 MONDO:0003847 False oromandibular-limb hypogenesis syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017139 MONDO:0015498 False oromandibular-limb hypogenesis syndrome oromandibular-limb anomalies syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017140 MONDO:0021147 False L1 syndrome disorder of development or morphogenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017145 MONDO:0002280 False beta-thalassemia and related diseases anemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017145 MONDO:0019050 False beta-thalassemia and related diseases inherited hemoglobinopathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017147 MONDO:0015924 False idiopathic pulmonary arterial hypertension pulmonary arterial hypertension UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017147 MONDO:0700007 False idiopathic pulmonary arterial hypertension idiopathic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017148 MONDO:0003847 False heritable pulmonary arterial hypertension hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017148 MONDO:0015924 False heritable pulmonary arterial hypertension pulmonary arterial hypertension UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017149 MONDO:0015924 False drug- or toxin-induced pulmonary arterial hypertension pulmonary arterial hypertension UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017157 MONDO:0005149 False pulmonary hypertension owing to lung disease and/or hypoxia pulmonary hypertension UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017160 MONDO:0005395 False behavioral variant of frontotemporal dementia movement disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017160 MONDO:0017276 False behavioral variant of frontotemporal dementia frontotemporal dementia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017161 MONDO:0005395 False frontotemporal dementia with motor neuron disease movement disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017161 MONDO:0015547 False frontotemporal dementia with motor neuron disease hereditary dementia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017161 MONDO:0024237 False frontotemporal dementia with motor neuron disease inherited neurodegenerative disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017162 MONDO:0002254 False imperforate oropharynx-costo vetebral anomalies syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017162 MONDO:0003847 False imperforate oropharynx-costo vetebral anomalies syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017162 MONDO:0018234 False imperforate oropharynx-costo vetebral anomalies syndrome dysostosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017164 MONDO:0003664 False hemolytic disease of the newborn with Kell alloimmunization hemolytic anemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017165 MONDO:0019218 False bile acid CoA ligase deficiency and defective amidation inborn disorder of bile acid synthesis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017167 MONDO:0005586 False malignant epithelial tumor of salivary glands head and neck neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017167 MONDO:0021223 False malignant epithelial tumor of salivary glands digestive system neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017168 MONDO:0005586 False benign epithelial tumor of salivary glands head and neck neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017168 MONDO:0021223 False benign epithelial tumor of salivary glands digestive system neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017169 MONDO:0015079 False multiple endocrine neoplasia multiple polyglandular tumor UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017169 MONDO:0015356 False multiple endocrine neoplasia hereditary neoplastic syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017169 MONDO:0021635 False multiple endocrine neoplasia neurocristopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017170 MONDO:0005071 False idiopathic recurrent stupor nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017170 MONDO:0700007 False idiopathic recurrent stupor idiopathic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017171 MONDO:0009661 False mucopolysaccharidosis type 6, rapidly progressing mucopolysaccharidosis type 6 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017172 MONDO:0009661 False mucopolysaccharidosis type 6, slowly progressing mucopolysaccharidosis type 6 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017174 MONDO:0007182 False Machado-Joseph disease type 1 Machado-Joseph disease UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017175 MONDO:0007182 False Machado-Joseph disease type 2 Machado-Joseph disease UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017176 MONDO:0007182 False Machado-Joseph disease type 3 Machado-Joseph disease UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017177 MONDO:0019716 False hemihyperplasia-multiple lipomatosis syndrome overgrowth syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017177 MONDO:0019755 False hemihyperplasia-multiple lipomatosis syndrome developmental defect during embryogenesis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017178 MONDO:0018383 False osteochondritis dissecans osteonecrosis of genetic origin UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017179 MONDO:0015588 False limbic encephalitis with caspr2 antibodies limbic encephalitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017180 MONDO:0016961 False 10q22.3q23.3 microduplication syndrome partial duplication of the long arm of chromosome 10 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017181 MONDO:0021146 False hypnic headache headache disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017182 MONDO:0002177 False familial hyperinsulinism hyperinsulinism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017182 MONDO:0005803 False familial hyperinsulinism hyperinsulinemic hypoglycemia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017183 MONDO:0015624 False hyperinsulinism due to UCP2 deficiency diazoxide-sensitive diffuse hyperinsulinism UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017184 MONDO:0015624 False autosomal dominant hyperinsulinism due to SUR1 deficiency diazoxide-sensitive diffuse hyperinsulinism UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017185 MONDO:0011153 False autosomal dominant hyperinsulinism due to Kir6.2 deficiency hyperinsulinemic hypoglycemia, familial, 2 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017185 MONDO:0015624 False autosomal dominant hyperinsulinism due to Kir6.2 deficiency diazoxide-sensitive diffuse hyperinsulinism UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017186 MONDO:0019010 False diazoxide-resistant hyperinsulinism congenital isolated hyperinsulinism UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017187 MONDO:0009734 False diazoxide-resistant focal hyperinsulinism due to SUR1 deficiency hyperinsulinemic hypoglycemia, familial, 1 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017187 MONDO:0019265 False diazoxide-resistant focal hyperinsulinism due to SUR1 deficiency diazoxide-resistant focal hyperinsulinism UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017188 MONDO:0011153 False diazoxide-resistant focal hyperinsulinism due to Kir6.2 deficiency hyperinsulinemic hypoglycemia, familial, 2 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017188 MONDO:0019265 False diazoxide-resistant focal hyperinsulinism due to Kir6.2 deficiency diazoxide-resistant focal hyperinsulinism UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017189 MONDO:0017182 False adult-onset non-insulinoma persistent hyperinsulinemic hypoglycemia familial hyperinsulinism UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017190 MONDO:0000448 False sporadic pheochromocytoma/secreting paraganglioma paraganglioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017193 MONDO:0015160 False symptomatic form of Coffin-Lowry syndrome in female carriers multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017194 MONDO:0005516 False Blount disease osteochondrodysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0017194 MONDO:0019698 False Blount disease bent bone dysplasia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017195 MONDO:0002254 False Bruck syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0017195 MONDO:0018230 False Bruck syndrome skeletal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017196 MONDO:0004884 False osteogenesis imperfecta-retinopathy-seizures-intellectual disability syndrome eye degenerative disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017196 MONDO:0005283 False osteogenesis imperfecta-retinopathy-seizures-intellectual disability syndrome retinal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017196 MONDO:0005287 False osteogenesis imperfecta-retinopathy-seizures-intellectual disability syndrome developmental disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017196 MONDO:0019019 False osteogenesis imperfecta-retinopathy-seizures-intellectual disability syndrome osteogenesis imperfecta UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017196 MONDO:0043878 False osteogenesis imperfecta-retinopathy-seizures-intellectual disability syndrome hereditary optic atrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017197 MONDO:0019289 False osteopathia striata-pigmentary dermopathy-white forelock syndrome hyperpigmentation of the skin UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017197 MONDO:0100118 False osteopathia striata-pigmentary dermopathy-white forelock syndrome hereditary skin disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017198 MONDO:0018230 False osteopetrosis skeletal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017198 MONDO:0042973 False osteopetrosis familial osteosclerosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017199 MONDO:0002254 False osteoporosis-macrocephaly-blindness-joint hyperlaxity syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017200 MONDO:0002263 False polycystic ovaries-urethral sphincter dysfunction syndrome female reproductive system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017201 MONDO:0005328 False Spasmus nutans eye disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017202 MONDO:0004863 False acute endophthalmitis purulent endophthalmitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0017202 MONDO:0020683 False acute endophthalmitis acute disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017203 MONDO:0004863 False chronic endophthalmitis purulent endophthalmitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0017204 MONDO:0005328 False toxic maculopathy due to antimalarial drugs eye disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017205 MONDO:0004034 False primary oculocerebral lymphoma eye lymphoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017205 MONDO:0017207 False primary oculocerebral lymphoma primary organ-specific lymphoma UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017209 MONDO:0001280 False infectious posterior uveitis choroiditis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017209 MONDO:0016047 False infectious posterior uveitis endophthalmitis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017210 MONDO:0004773 False infectious anterior uveitis iridocyclitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0017210 MONDO:0016047 False infectious anterior uveitis endophthalmitis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0017211 MONDO:0016047 False infectious panuveitis endophthalmitis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017211 MONDO:0017255 False infectious panuveitis panuveitis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017212 MONDO:0001280 False paraneoplastic uveitis choroiditis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017213 MONDO:0002118 False postorgasmic illness syndrome urinary system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017213 MONDO:0003150 False postorgasmic illness syndrome male reproductive system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017214 MONDO:0002012 False vitamin B12-responsive methylmalonic acidemia methylmalonic acidemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017214 MONDO:0019215 False vitamin B12-responsive methylmalonic acidemia classic organic aciduria UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017214 MONDO:0019220 False vitamin B12-responsive methylmalonic acidemia inborn disorder of cobalamin metabolism and transport UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017215 MONDO:0002123 False calciphylaxis calcinosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0017215 MONDO:0002254 False calciphylaxis syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0017215 MONDO:0005385 False calciphylaxis vascular disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0017216 MONDO:0017215 False calciphylaxis cutis calciphylaxis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017216 MONDO:0019293 False calciphylaxis cutis skin vascular disease UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017217 MONDO:0017215 False visceral calciphylaxis calciphylaxis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017219 MONDO:0016296 False microform holoprosencephaly holoprosencephaly UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0017220 MONDO:0016060 False laryngotracheoesophageal cleft type 0 laryngotracheoesophageal cleft UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017221 MONDO:0010714 False Pelizaeus-Merzbacher disease, connatal form Pelizeaus-Merzbacher spectrum disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017222 MONDO:0010714 False Pelizaeus-Merzbacher disease, classic form Pelizeaus-Merzbacher spectrum disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017223 MONDO:0010714 False Pelizaeus-Merzbacher disease, transitional form Pelizeaus-Merzbacher spectrum disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017224 MONDO:0010714 False Pelizaeus-Merzbacher disease in female carriers Pelizeaus-Merzbacher spectrum disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017225 MONDO:0010714 False null syndrome Pelizeaus-Merzbacher spectrum disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017226 MONDO:0019046 False Pelizaeus-Merzbacher-like disease leukodystrophy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017227 MONDO:0005003 False autoimmune pancreatitis type 1 chronic pancreatitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017227 MONDO:0015175 False autoimmune pancreatitis type 1 autoimmune pancreatitis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017228 MONDO:0015175 False autoimmune pancreatitis type 2 autoimmune pancreatitis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017229 MONDO:0022174 False distal monosomy 12p chromosome 12p deletion UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017230 MONDO:0020088 False autosomal semi-dominant severe lipodystrophic laminopathy familial partial lipodystrophy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017231 MONDO:0019142 False erythropoietic uroporphyria associated with myeloid malignancy inherited porphyria UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017232 MONDO:0002254 False recessive intellectual disability-motor dysfunction-multiple joint contractures syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017233 MONDO:0003847 False familial Alzheimer-like prion disease hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017233 MONDO:0005429 False familial Alzheimer-like prion disease prion disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -25978,254 +28043,126 @@ MONDO:0017235 MONDO:0021147 False familial omphalocele syndrome with facial dysm MONDO:0017237 MONDO:0015358 False hereditary sensorimotor neuropathy with hyperelastic skin hereditary motor and sensory neuropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017238 MONDO:0002280 False hemoglobinopathy Toms River anemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017238 MONDO:0013511 False hemoglobinopathy Toms River cyanosis, transient neonatal UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017238 MONDO:0019050 False hemoglobinopathy Toms River inherited hemoglobinopathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017239 MONDO:0007771 False familial progressive hyper- and hypopigmentation hyperpigmentation with or without hypopigmentation, familial progressive UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017242 MONDO:0019293 False cutaneous collagenous vasculopathy skin vascular disease UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017243 MONDO:0019315 False bullous diffuse cutaneous mastocytosis diffuse cutaneous mastocytosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017244 MONDO:0019315 False pseudoxanthomatous diffuse cutaneous mastocytosis diffuse cutaneous mastocytosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017245 MONDO:0017843 False intralobar congenital pulmonary sequestration congenital pulmonary sequestration UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017246 MONDO:0017843 False extralobar congenital pulmonary sequestration congenital pulmonary sequestration UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017247 MONDO:0017843 False communicating congenital bronchopulmonary-foregut malformation congenital pulmonary sequestration UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017248 MONDO:0016580 False congenital pulmonary airway malformation type 0 congenital pulmonary airway malformation UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017249 MONDO:0016580 False congenital pulmonary airway malformation type 1 congenital pulmonary airway malformation UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017250 MONDO:0016580 False congenital pulmonary airway malformation type 2 congenital pulmonary airway malformation UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017251 MONDO:0016580 False congenital pulmonary airway malformation type 3 congenital pulmonary airway malformation UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017252 MONDO:0016580 False congenital pulmonary airway malformation type 4 congenital pulmonary airway malformation UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017256 MONDO:0006651 False idiopathic anterior uveitis anterior uveitis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017256 MONDO:0700007 False idiopathic anterior uveitis idiopathic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017257 MONDO:0020283 False idiopathic posterior uveitis uveitis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017257 MONDO:0700007 False idiopathic posterior uveitis idiopathic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017258 MONDO:0017255 False idiopathic panuveitis panuveitis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017258 MONDO:0700007 False idiopathic panuveitis idiopathic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017264 MONDO:0005328 False syndromic recessive X-linked ichthyosis eye disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017264 MONDO:0017269 False syndromic recessive X-linked ichthyosis X-linked ichthyosis syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017265 MONDO:0015947 False autosomal recessive congenital ichthyosis inherited ichthyosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017266 MONDO:0015947 False keratinopathic ichthyosis inherited ichthyosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017267 MONDO:0017265 False self-healing collodion baby autosomal recessive congenital ichthyosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017268 MONDO:0017265 False acral self-healing collodion baby autosomal recessive congenital ichthyosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017269 MONDO:0002051 False X-linked ichthyosis syndrome integumentary system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017269 MONDO:0002254 False X-linked ichthyosis syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017275 MONDO:0015087 False spastic paraplegia-facial-cutaneous lesions syndrome autosomal dominant complex spastic paraplegia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017276 MONDO:0015547 False frontotemporal dementia hereditary dementia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017276 MONDO:0024237 False frontotemporal dementia inherited neurodegenerative disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017277 MONDO:0000761 False partial deletion of chromosome 12 syndrome caused by partial chromosomal deletion UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017277 MONDO:0700019 False partial deletion of chromosome 12 chromosome 12 disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017278 MONDO:0000569 False autoimmune polyendocrinopathy autoimmune disorder of endocrine system UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0017278 MONDO:0015126 False autoimmune polyendocrinopathy polyendocrinopathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017279 MONDO:0005180 False young-onset Parkinson disease Parkinson disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0017278 MONDO:0002254 False autoimmune polyendocrinopathy syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0017280 MONDO:0002051 False demodicidosis integumentary system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017280 MONDO:0005135 False demodicidosis parasitic infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017281 MONDO:0002254 False renal caliceal diverticuli-deafness syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017282 MONDO:0005738 False alveolar echinococcosis echinococcosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0017283 MONDO:0016892 False DeSanto-Shinawi Syndrome due to 10p11.21p12.31 microdeletion partial deletion of the short arm of chromosome 10 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017283 MONDO:0018760 False DeSanto-Shinawi Syndrome due to 10p11.21p12.31 microdeletion DeSanto-Shinawi syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017284 MONDO:0015159 False Xp22.13p22.2 duplication syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017284 MONDO:0017009 False Xp22.13p22.2 duplication syndrome partial duplication of the short arm of chromosome X UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017285 MONDO:0003150 False penoscrotal transposition male reproductive system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017285 MONDO:0021147 False penoscrotal transposition disorder of development or morphogenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017286 MONDO:0007179 False tempi syndrome autoimmune disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017287 MONDO:0007179 False IgG4-related disease autoimmune disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0017289 MONDO:0011014 False fetal lung interstitial tumor pleuropulmonary blastoma UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017290 MONDO:0005154 False familial intrahepatic cholestasis liver disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017290 MONDO:0019052 False familial intrahepatic cholestasis inborn errors of metabolism UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017290 MONDO:0019072 False familial intrahepatic cholestasis intrahepatic cholestasis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017291 MONDO:0021146 False reversible cerebral vasoconstriction syndrome headache disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017295 MONDO:0018459 False glycerol kinase deficiency, juvenile form isolated glycerol kinase deficiency UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017295 MONDO:0019225 False glycerol kinase deficiency, juvenile form disorder of gluconeogenesis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017296 MONDO:0018459 False glycerol kinase deficiency, adult form isolated glycerol kinase deficiency UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017296 MONDO:0019225 False glycerol kinase deficiency, adult form disorder of gluconeogenesis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017297 MONDO:0005071 False chronic lymphocytic inflammation with pontine perivascular enhancement responsive to steroids nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017298 MONDO:0005328 False acute zonal occult outer retinopathy eye disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017298 MONDO:0020683 False acute zonal occult outer retinopathy acute disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017299 MONDO:0005328 False acute annular outer retinopathy eye disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017299 MONDO:0020683 False acute annular outer retinopathy acute disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017300 MONDO:0019512 False congenital pericardium anomaly congenital heart malformation UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017301 MONDO:0021147 False pericardial and diaphragmatic defect disorder of development or morphogenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017303 MONDO:0016139 False qualitative or quantitative defects of tropomyosin qualitative or quantitative protein defects in neuromuscular diseases UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017304 MONDO:0018134 False ocular albinism disorder of melanin metabolism UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017304 MONDO:0024458 False ocular albinism disorder of visual system UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017305 MONDO:0002254 False syndromic oculocutaneous albinism syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017305 MONDO:0018134 False syndromic oculocutaneous albinism disorder of melanin metabolism UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017305 MONDO:0019290 False syndromic oculocutaneous albinism hypopigmentation of the skin UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017305 MONDO:0100118 False syndromic oculocutaneous albinism hereditary skin disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017306 MONDO:0019189 False disorder of phenylalanine metabolism inborn disorder of amino acid and other organic acid metabolism UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017306 MONDO:0019235 False disorder of phenylalanine metabolism inborn disorder of phenylalanine and tyrosine metabolism UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017306 MONDO:0037871 False disorder of phenylalanine metabolism amino acid metabolism disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017307 MONDO:0019189 False disorder of tyrosine metabolism inborn disorder of amino acid and other organic acid metabolism UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017307 MONDO:0019235 False disorder of tyrosine metabolism inborn disorder of phenylalanine and tyrosine metabolism UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017307 MONDO:0037871 False disorder of tyrosine metabolism amino acid metabolism disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017309 MONDO:0005385 False neonatal Marfan syndrome vascular disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017309 MONDO:0007947 False neonatal Marfan syndrome Marfan syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017310 MONDO:0023603 False Marfan and Marfan-related disorder hereditary disorder of connective tissue UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017312 MONDO:0006025 False Perrault syndrome autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0017312 MONDO:0016387 False Perrault syndrome mitochondrial oxidative phosphorylation disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017312 MONDO:0019852 False Perrault syndrome inherited primary ovarian failure UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING -MONDO:0017313 MONDO:0017758 False disorder of folate metabolism and transport disorder of vitamin and non-protein cofactor absorption and transport UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017314 MONDO:0005385 False Ehlers-Danlos syndrome, vascular type vascular disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017315 MONDO:0015159 False short stature-webbed neck-heart disease syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017316 MONDO:0002254 False short stature-deafness-neutrophil dysfunction-dysmorphism syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017317 MONDO:0000648 False phakomatosis pigmentokeratotica nervous system benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017317 MONDO:0005073 False phakomatosis pigmentokeratotica melanocytic nevus UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017317 MONDO:0019755 False phakomatosis pigmentokeratotica developmental defect during embryogenesis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017317 MONDO:0042983 False phakomatosis pigmentokeratotica neurocutaneous syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017317 MONDO:0100118 False phakomatosis pigmentokeratotica hereditary skin disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017318 MONDO:0005328 False phakomatosis pigmentovascularis eye disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017318 MONDO:0019289 False phakomatosis pigmentovascularis hyperpigmentation of the skin UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017318 MONDO:0019755 False phakomatosis pigmentovascularis developmental defect during embryogenesis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017318 MONDO:0042983 False phakomatosis pigmentovascularis neurocutaneous syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017320 MONDO:0019225 False phosphoenolpyruvate carboxykinase deficiency disorder of gluconeogenesis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017321 MONDO:0019287 False pili torti-onychodysplasia syndrome ectodermal dysplasia syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017322 MONDO:0005151 False disorders of vitamin D metabolism endocrine system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017322 MONDO:0005528 False disorders of vitamin D metabolism inborn vitamin metabolic disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017323 MONDO:0017322 False hypocalcemic rickets disorders of vitamin D metabolism UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017324 MONDO:0000044 False autosomal recessive hypophosphatemic rickets hereditary hypophosphatemic rickets UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017324 MONDO:0006025 False autosomal recessive hypophosphatemic rickets autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0017325 MONDO:0020072 False early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation childhood-onset epilepsy syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017323 MONDO:0005520 False hypocalcemic rickets rickets UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017326 MONDO:0005108 False infective dermatitis associated with HTLV-1 viral infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017326 MONDO:0024294 False infective dermatitis associated with HTLV-1 skin disorder caused by infection UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017327 MONDO:0018171 False primary non-gestational choriocarcinoma of ovary malignant germ cell tumor of ovary UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017328 MONDO:0005440 False non-central nervous system-localized embryonal carcinoma embryonal carcinoma UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017329 MONDO:0003847 False familial vesicoureteral reflux hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017329 MONDO:0006007 False familial vesicoureteral reflux vesicoureteral reflux UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017330 MONDO:0024575 False malignancy diagnosed during pregnancy pregnancy disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017331 MONDO:0003847 False Pilotto syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017332 MONDO:0019751 False pyoderma gangrenosum-acne-suppurative hidradenitis syndrome autoinflammatory syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017334 MONDO:0016877 False 12q15q21.1 microdeletion syndrome partial deletion of the long arm of chromosome 12 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017335 MONDO:0015159 False microtriplication 11q24.1 multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017335 MONDO:0022173 False microtriplication 11q24.1 chromosome 11q trisomy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017337 MONDO:0015129 False inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency chronic primary adrenal insufficiency UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017338 MONDO:0018424 False fatal multiple mitochondrial dysfunctions syndrome inherited lipoic acid biosynthesis defect UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017339 MONDO:0017265 False exfoliative ichthyosis autosomal recessive congenital ichthyosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017340 MONDO:0024623 False juvenile nasopharyngeal angiofibroma otorhinolaryngologic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017341 MONDO:0005070 False virus associated tumor neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017341 MONDO:0021674 False virus associated tumor post-viral disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017342 MONDO:0017341 False Epstein-Barr virus-related tumor virus associated tumor UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017343 MONDO:0017342 False Epstein-Barr virus-associated malignant lymphoproliferative disorder Epstein-Barr virus-related tumor UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017344 MONDO:0017342 False Epstein-Barr virus-associated carcinoma Epstein-Barr virus-related tumor UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017345 MONDO:0017342 False Epstein-Barr virus-associated mesenchymal tumor Epstein-Barr virus-related tumor UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017346 MONDO:0017343 False Epstein-Barr virus-positive diffuse large B-cell lymphoma of the elderly Epstein-Barr virus-associated malignant lymphoproliferative disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017347 MONDO:0017343 False plasmablastic lymphoma Epstein-Barr virus-associated malignant lymphoproliferative disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017348 MONDO:0017344 False lymphoepithelial-like carcinoma Epstein-Barr virus-associated carcinoma UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017349 MONDO:0017345 False myopericytoma Epstein-Barr virus-associated mesenchymal tumor UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017350 MONDO:0019189 False inborn disorder of tryptophan metabolism inborn disorder of amino acid and other organic acid metabolism UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017350 MONDO:0037871 False inborn disorder of tryptophan metabolism amino acid metabolism disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017351 MONDO:0037938 False inborn disorder of lysine and hydroxylysine metabolism inborn disorder of aspartate family metabolism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017352 MONDO:0019189 False disorder of glutamine metabolism inborn disorder of amino acid and other organic acid metabolism UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017353 MONDO:0011612 False neonatal glycine encephalopathy glycine encephalopathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017354 MONDO:0011612 False infantile glycine encephalopathy glycine encephalopathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017355 MONDO:0019230 False inborn disorder of proline metabolism inborn disorder of ornithine or proline metabolism UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017355 MONDO:0037871 False inborn disorder of proline metabolism amino acid metabolism disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017356 MONDO:0019230 False inborn disorder of ornithine metabolism inborn disorder of ornithine or proline metabolism UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017356 MONDO:0037871 False inborn disorder of ornithine metabolism amino acid metabolism disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017357 MONDO:0005087 False transient hyperammonemia of the newborn respiratory system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017359 MONDO:0019215 False 3-methylglutaconic aciduria classic organic aciduria UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017360 MONDO:0009612 False vitamin B12-unresponsive methylmalonic acidemia type mut0 methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017361 MONDO:0016511 False congenital rubella syndrome infectious embryofetopathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017362 MONDO:0015923 False neuralgic amyotrophy acquired peripheral neuropathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017363 MONDO:0015927 False idiopathic chronic eosinophilic pneumonia idiopathic eosinophilic pneumonia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017361 MONDO:0004656 False congenital rubella syndrome rubella UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017363 MONDO:0017853 False idiopathic chronic eosinophilic pneumonia hypersensitivity pneumonitis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017364 MONDO:0004805 False POEMS syndrome leukocyte disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0017364 MONDO:0015923 False POEMS syndrome acquired peripheral neuropathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017364 MONDO:0018215 False POEMS syndrome paraneoplastic neurologic syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017365 MONDO:0008260 False hereditary acrokeratotic poikiloderma, Weary type Kindler syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017366 MONDO:0005495 False hereditary pheochromocytoma-paraganglioma adrenal gland disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017372 MONDO:0002254 False congenital varicella syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017372 MONDO:0005108 False congenital varicella syndrome viral infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017372 MONDO:0016511 False congenital varicella syndrome infectious embryofetopathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017373 MONDO:0002565 False poliomyelitis myelitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0017373 MONDO:0003182 False poliomyelitis anterior horn disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0017373 MONDO:0020129 False poliomyelitis acquired motor neuron disease UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017373 MONDO:0020683 False poliomyelitis acute disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017373 MONDO:0024318 False poliomyelitis viral infection of central nervous system UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017373 MONDO:0024618 False poliomyelitis poliovirus infection UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017375 MONDO:0005747 False congenital enterovirus infection enterovirus infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017375 MONDO:0016511 False congenital enterovirus infection infectious embryofetopathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017376 MONDO:0005554 False reactive arthritis rheumatic disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0017377 MONDO:0015159 False preaxial polydactyly-colobomata-intellectual disability syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017379 MONDO:0002254 False polyneuropathy-intellectual disability-acromicria-premature menopause syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017380 MONDO:0004335 False juvenile polyposis syndrome digestive system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017380 MONDO:0015185 False juvenile polyposis syndrome intestinal polyposis syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017381 MONDO:0004609 False congenital herpes simplex virus infection herpes simplex infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017381 MONDO:0042971 False congenital herpes simplex virus infection congenital herpes virus infection UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017382 MONDO:0007342 False familial clubfoot due to 5q31 microdeletion clubfoot UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017383 MONDO:0007342 False familial clubfoot due to PITX1 point mutation clubfoot UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017384 MONDO:0017396 False acute generalized exanthematous pustulosis toxic dermatosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017384 MONDO:0002406 False acute generalized exanthematous pustulosis dermatitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017384 MONDO:0020683 False acute generalized exanthematous pustulosis acute disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017385 MONDO:0020070 False malignant migrating partial seizures of infancy neonatal epilepsy syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017388 MONDO:0004995 False celiac trunk compression syndrome cardiovascular disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017389 MONDO:0009861 False tetrahydrobiopterin-responsive hyperphenylalaninemia/phenylketonuria phenylketonuria UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017391 MONDO:0020212 False Grayson-Wilbrandt corneal dystrophy superficial corneal dystrophy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017392 MONDO:0020213 False pre-descemet corneal dystrophy stromal corneal dystrophy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017393 MONDO:0015159 False blepharophimosis - intellectual disability syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017394 MONDO:0004868 False ketamine-induced biliary dilatation biliary tract disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017394 MONDO:0029000 False ketamine-induced biliary dilatation poisoning UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017395 MONDO:0017396 False fixed pigmented erythema toxic dermatosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017396 MONDO:0005093 False toxic dermatosis skin disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017398 MONDO:0003847 False 3MC syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0017398 MONDO:0015159 False 3MC syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017399 MONDO:0010857 False frontotemporal dementia, right temporal atrophy variant semantic dementia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017400 MONDO:0002254 False hypoplastic pancreas-intestinal atresia-hypoplastic gallbalder syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017400 MONDO:0003847 False hypoplastic pancreas-intestinal atresia-hypoplastic gallbalder syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017401 MONDO:0016342 False familial isolated arrhythmogenic ventricular dysplasia, left dominant form familial isolated arrhythmogenic right ventricular dysplasia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017402 MONDO:0016342 False familial isolated arrhythmogenic ventricular dysplasia, biventricular form familial isolated arrhythmogenic right ventricular dysplasia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017403 MONDO:0016342 False familial isolated arrhythmogenic ventricular dysplasia, right dominant form familial isolated arrhythmogenic right ventricular dysplasia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017404 MONDO:0010436 False distal Xq28 microduplication syndrome chromosome Xq28 duplication syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017405 MONDO:0016883 False 1p21.3 microdeletion syndrome partial deletion of the short arm of chromosome 1 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017406 MONDO:0015770 False hypogonadotropic hypogonadism-severe microcephaly-sensorineural hearing loss-dysmorphism syndrome congenital hypogonadotropic hypogonadism UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017406 MONDO:0021147 False hypogonadotropic hypogonadism-severe microcephaly-sensorineural hearing loss-dysmorphism syndrome disorder of development or morphogenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017407 MONDO:0014260 False deficiency in anterior pituitary function - variable immunodeficiency syndrome immunodeficiency, common variable, 10 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017407 MONDO:0018762 False deficiency in anterior pituitary function - variable immunodeficiency syndrome non-acquired combined pituitary hormone deficiency UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017408 MONDO:0005151 False rapid-onset childhood obesity-hypothalamic dysfunction-hypoventilation-autonomic dysregulation syndrome endocrine system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017409 MONDO:0002254 False fetal cytomegalovirus syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017409 MONDO:0016511 False fetal cytomegalovirus syndrome infectious embryofetopathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017410 MONDO:0017103 False porencephaly encephaloclastic disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017409 MONDO:0005132 False fetal cytomegalovirus syndrome cytomegalovirus infection UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017411 MONDO:0005265 False neonatal inflammatory skin and bowel disease inflammatory bowel disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING -MONDO:0017411 MONDO:0019268 False neonatal inflammatory skin and bowel disease epidermal disease UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017411 MONDO:0019751 False neonatal inflammatory skin and bowel disease autoinflammatory syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017411 MONDO:0023603 False neonatal inflammatory skin and bowel disease hereditary disorder of connective tissue UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017411 MONDO:0100118 False neonatal inflammatory skin and bowel disease hereditary skin disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017415 MONDO:0015225 False multiple pterygium syndrome arthrogryposis syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017416 MONDO:0017373 False postpoliomyelitis syndrome poliomyelitis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0017417 MONDO:0003847 False renal-hepatic-pancreatic dysplasia hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0017418 MONDO:0005020 False chronic intestinal failure intestinal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017419 MONDO:0018234 False non-syndromic amelia dysostosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017419 MONDO:0019713 False non-syndromic amelia non-syndromic limb reduction defect UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017424 MONDO:0021004 False non-syndromic brachydactyly brachydactyly UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017425 MONDO:0011348 False preaxial polydactyly of fingers non-syndromic polydactyly UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017426 MONDO:0011348 False postaxial polydactyly of fingers non-syndromic polydactyly UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017427 MONDO:0021147 False congenital deformities of limbs disorder of development or morphogenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017435 MONDO:0015225 False popliteal pterygium syndrome arthrogryposis syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017436 MONDO:0003847 False lethal congenital contracture syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0017436 MONDO:0015225 False lethal congenital contracture syndrome arthrogryposis syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017437 MONDO:0017419 False amelia of upper limb non-syndromic amelia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017438 MONDO:0017419 False amelia of lower limb non-syndromic amelia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017439 MONDO:0017419 False tetra-amelia non-syndromic amelia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017440 MONDO:0019713 False humeral agenesis/hypoplasia non-syndromic limb reduction defect UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017441 MONDO:0018230 False congenital absence of upper arm and forearm with hand present skeletal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017441 MONDO:0018234 False congenital absence of upper arm and forearm with hand present dysostosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017442 MONDO:0018230 False congenital absence of thigh and lower leg with foot present skeletal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017442 MONDO:0018234 False congenital absence of thigh and lower leg with foot present dysostosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017443 MONDO:0018230 False congenital absence of both forearm and hand skeletal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017443 MONDO:0018234 False congenital absence of both forearm and hand dysostosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017444 MONDO:0018230 False congenital absence of both lower leg and foot skeletal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017444 MONDO:0018234 False congenital absence of both lower leg and foot dysostosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017445 MONDO:0018230 False acheiria skeletal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017445 MONDO:0018234 False acheiria dysostosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017446 MONDO:0018230 False apodia skeletal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017446 MONDO:0018234 False apodia dysostosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017450 MONDO:0018234 False split foot dysostosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017452 MONDO:0017424 False non-syndromic brachydactyly of toes non-syndromic brachydactyly UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017453 MONDO:0016511 False fetal parvovirus syndrome infectious embryofetopathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017453 MONDO:0025371 False fetal parvovirus syndrome Parvoviridae infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017454 MONDO:0019054 False triphalangeal thumb-polysyndactyly syndrome congenital limb malformation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017455 MONDO:0018234 False hyperphalangy dysostosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017456 MONDO:0011348 False central polydactyly of fingers non-syndromic polydactyly UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017457 MONDO:0011348 False Preaxial polydactyly of toes non-syndromic polydactyly UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017460 MONDO:0019530 False syndactyly type 6 non-syndromic syndactyly UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017461 MONDO:0021147 False familial isolated clinodactyly of fingers disorder of development or morphogenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017462 MONDO:0015525 False congenital pseudoarthrosis of the tibia congenital pseudoarthrosis of the limbs UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017463 MONDO:0015525 False congenital pseudoarthrosis of the femur congenital pseudoarthrosis of the limbs UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017464 MONDO:0015525 False congenital pseudoarthrosis of the fibula congenital pseudoarthrosis of the limbs UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017465 MONDO:0015525 False congenital pseudoarthrosis of the radius congenital pseudoarthrosis of the limbs UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017466 MONDO:0015525 False congenital pseudoarthrosis of the ulna congenital pseudoarthrosis of the limbs UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017467 MONDO:0001411 False tibio-fibular synostosis synostosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017468 MONDO:0021147 False congenital shoulder dislocation disorder of development or morphogenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017469 MONDO:0021147 False congenital elbow dislocation disorder of development or morphogenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -26253,94 +28190,43 @@ MONDO:0017531 MONDO:0019673 False postaxial polydactyly type A, unilateral posta MONDO:0017532 MONDO:0019673 False postaxial polydactyly type A, bilateral postaxial polydactyly type A UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017533 MONDO:0019674 False postaxial polydactyly type B, unilateral postaxial polydactyly type B UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017534 MONDO:0019674 False postaxial polydactyly type B, bilateral postaxial polydactyly type B UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017543 MONDO:0008512 False zygodactyly type 2 syndactyly type 1 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017544 MONDO:0008512 False zygodactyly type 3 syndactyly type 1 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017545 MONDO:0008512 False zygodactyly type 4 syndactyly type 1 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017546 MONDO:0008652 False congenital vertical talus, unilateral congenital vertical talus UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017547 MONDO:0008652 False congenital vertical talus, bilateral congenital vertical talus UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017552 MONDO:0019782 False humero-ulnar synostosis, unilateral humero-ulnar synostosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017553 MONDO:0019782 False humero-ulnar synostosis, bilateral humero-ulnar synostosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017554 MONDO:0017985 False radio-ulnar synostosis, unilateral congenital radioulnar synostosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017555 MONDO:0017985 False radio-ulnar synostosis, bilateral congenital radioulnar synostosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017558 MONDO:0017469 False congenital elbow dislocation, unilateral congenital elbow dislocation UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017559 MONDO:0017469 False congenital elbow dislocation, bilateral congenital elbow dislocation UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017560 MONDO:0017470 False congenital genu recurvatum congenital knee dislocation UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017561 MONDO:0017470 False congenital genu flexum congenital knee dislocation UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017564 MONDO:0017474 False macrodactyly of fingers, unilateral macrodactyly of fingers UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017565 MONDO:0017474 False macrodactyly of fingers, bilateral macrodactyly of fingers UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017566 MONDO:0017475 False macrodactyly of toes, unilateral macrodactyly of toes UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017567 MONDO:0017475 False macrodactyly of toes, bilateral macrodactyly of toes UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017568 MONDO:0018234 False Prata-Liberal-Goncalves syndrome dysostosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017569 MONDO:0006025 False de Barsy syndrome autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0017569 MONDO:0019303 False de Barsy syndrome premature aging syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017570 MONDO:0006025 False leukocyte adhesion deficiency autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0017570 MONDO:0015978 False leukocyte adhesion deficiency functional neutrophil defect UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017571 MONDO:0002051 False Proteus-like syndrome integumentary system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017571 MONDO:0003847 False Proteus-like syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017571 MONDO:0045024 False Proteus-like syndrome cell proliferation disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017572 MONDO:0025294 False tick-borne encephalitis tick-borne infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017573 MONDO:0002254 False 46,XX disorder of sex development-anorectal anomalies syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017573 MONDO:0017576 False 46,XX disorder of sex development-anorectal anomalies syndrome 46,XX disorder of sex development UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017574 MONDO:0002803 False chronic intestinal pseudoobstruction intestinal pseudo-obstruction UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017574 MONDO:0021189 False chronic intestinal pseudoobstruction intestinal motility disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017575 MONDO:0002254 False mitochondrial neurogastrointestinal encephalomyopathy syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017575 MONDO:0002320 False mitochondrial neurogastrointestinal encephalomyopathy congenital nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017575 MONDO:0009637 False mitochondrial neurogastrointestinal encephalomyopathy inborn mitochondrial myopathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017575 MONDO:0019238 False mitochondrial neurogastrointestinal encephalomyopathy inborn disorder of pyrimidine metabolism UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017575 MONDO:0020127 False mitochondrial neurogastrointestinal encephalomyopathy hereditary peripheral neuropathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017577 MONDO:0005071 False spontaneous periodic hypothermia nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017578 MONDO:0017758 False disorder of thiamine metabolism and transport disorder of vitamin and non-protein cofactor absorption and transport UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017579 MONDO:0002254 False Baraitser-Winter cerebrofrontofacial syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0017579 MONDO:0015159 False Baraitser-Winter cerebrofrontofacial syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017579 MONDO:0018838 False Baraitser-Winter cerebrofrontofacial syndrome lissencephaly spectrum disorders UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS -MONDO:0017580 MONDO:0015159 False 11p15.4 microduplication syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017580 MONDO:0016948 False 11p15.4 microduplication syndrome partial duplication of the short arm of chromosome 11 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017580 MONDO:0019716 False 11p15.4 microduplication syndrome overgrowth syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017582 MONDO:0002038 False pituitary adenocarcinoma head and neck carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0017582 MONDO:0002415 False pituitary adenocarcinoma bone carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0017582 MONDO:0004970 False pituitary adenocarcinoma adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0017583 MONDO:0002254 False mirror polydactyly-vertebral segmentation-limbs defects syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017584 MONDO:0005381 False Sagliker syndrome bone disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017585 MONDO:0016752 False painful orbital and systemic neurofibromas-marfanoid habitus syndrome benign peripheral nerve sheath tumor UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017586 MONDO:0017588 False onychocytic matricoma nail tumor UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017587 MONDO:0017588 False onychomatricoma nail tumor UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017588 MONDO:0002884 False nail tumor nail disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017588 MONDO:0005070 False nail tumor neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017589 MONDO:0002356 False follicular cholangitis and pancreatitis pancreas disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017589 MONDO:0004868 False follicular cholangitis and pancreatitis biliary tract disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017590 MONDO:0003090 False carcinoma of the ampulla of vater extrahepatic bile duct carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0017590 MONDO:0021335 False carcinoma of the ampulla of vater carcinoma of duodenum UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017591 MONDO:0002429 False combined pulmonary fibrosis-emphysema syndrome idiopathic interstitial pneumonia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017592 MONDO:0024313 False staphylococcal toxemia staphylococcal infection UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017593 MONDO:0005144 False juvenile amyotrophic lateral sclerosis familial amyotrophic lateral sclerosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017598 MONDO:0018897 False primary cutaneous anaplastic large cell lymphoma primary cutaneous CD30+ T-cell lymphoproliferative disease UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017599 MONDO:0017604 False splenic diffuse red pulp small B-cell lymphoma marginal zone lymphoma UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017600 MONDO:0018935 False hairy cell leukemia variant hairy cell leukemia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0017601 MONDO:0017343 False diffuse large B-cell lymphoma with chronic inflammation Epstein-Barr virus-associated malignant lymphoproliferative disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017601 MONDO:0018905 False diffuse large B-cell lymphoma with chronic inflammation diffuse large B-cell lymphoma UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017604 MONDO:0004699 False marginal zone lymphoma gastrointestinal lymphoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0017604 MONDO:0005966 False marginal zone lymphoma spleen cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0017607 MONDO:0018075 False caudal regression sequence neural tube defect UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0017609 MONDO:0005240 False renal tubular dysgenesis kidney disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017610 MONDO:0019276 False epidermolysis bullosa simplex inherited epidermolysis bullosa UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017611 MONDO:0002082 False pituitary tumor endocrine gland neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017611 MONDO:0002720 False pituitary tumor sella turcica neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017611 MONDO:0006799 False pituitary tumor hypothalamic neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017612 MONDO:0019276 False junctional epidermolysis bullosa inherited epidermolysis bullosa UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017614 MONDO:0002320 False X-linked intellectual disability-hypogonadism-ichthyosis-obesity-short stature syndrome congenital nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017614 MONDO:0015159 False X-linked intellectual disability-hypogonadism-ichthyosis-obesity-short stature syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017614 MONDO:0020119 False X-linked intellectual disability-hypogonadism-ichthyosis-obesity-short stature syndrome X-linked syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017615 MONDO:0000413 False benign familial infantile epilepsy infancy electroclinical syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0017615 MONDO:0015642 False benign familial infantile epilepsy benign partial infantile seizures UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017615 MONDO:0015653 False benign familial infantile epilepsy monogenic epilepsy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017617 MONDO:0017769 False acquired adult-onset immunodeficiency acquired immunodeficiency UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017623 MONDO:0019755 False PTEN hamartoma tumor syndrome developmental defect during embryogenesis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017624 MONDO:0018100 False familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis familial primary hypomagnesemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017625 MONDO:0018100 False familial primary hypomagnesemia with hypocalcuria familial primary hypomagnesemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017627 MONDO:0002254 False congenital hereditary facial paralysis-variable hearing loss syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017627 MONDO:0023369 False congenital hereditary facial paralysis-variable hearing loss syndrome disorder of facial skeleton UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017628 MONDO:0023369 False myospherulosis disorder of facial skeleton UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017630 MONDO:0017140 False X-linked complicated spastic paraplegia type 1 L1 syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017630 MONDO:0020605 False X-linked complicated spastic paraplegia type 1 X-linked recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017634 MONDO:0006651 False non-infectious anterior uveitis anterior uveitis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017636 MONDO:0021095 False hemiparkinsonism-hemiatrophy syndrome parkinsonian disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017638 MONDO:0029000 False manganese poisoning poisoning UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017639 MONDO:0021095 False carbon monoxide-induced parkinsonism parkinsonian disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -26348,148 +28234,61 @@ MONDO:0017639 MONDO:0800373 False carbon monoxide-induced parkinsonism carbon mo MONDO:0017640 MONDO:0021095 False cyanide-induced parkinsonism parkinsonian disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017640 MONDO:0029000 False cyanide-induced parkinsonism poisoning UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017642 MONDO:0002254 False intellectual disability-microcephaly-phalangeal-facial abnormalities syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017648 MONDO:0005071 False Sydenham chorea nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017649 MONDO:0003441 False hemidystonia-hemiatrophy syndrome dystonic disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017658 MONDO:0005395 False hyperekplexia movement disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017659 MONDO:0017658 False sporadic hyperekplexia hyperekplexia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017666 MONDO:0019272 False diffuse palmoplantar keratoderma hereditary palmoplantar keratoderma UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017668 MONDO:0015159 False intellectual disability-short stature-hypertelorism syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017672 MONDO:0019272 False focal palmoplantar keratoderma hereditary palmoplantar keratoderma UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017675 MONDO:0019272 False punctate palmoplantar keratoderma hereditary palmoplantar keratoderma UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017677 MONDO:0017675 False focal acral hyperkeratosis punctate palmoplantar keratoderma UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017681 MONDO:0019270 False erythrokeratoderma variabilis progressiva erythrokeratoderma UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017682 MONDO:0015159 False intellectual disability-polydactyly-uncombable hair syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017683 MONDO:0018964 False methylcobalamin deficiency type cblDv1 homocystinuria without methylmalonic aciduria UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017683 MONDO:0100463 False methylcobalamin deficiency type cblDv1 methylmalonic aciduria and/or homocystinuria, cblD type UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017684 MONDO:0019189 False disorder of beta and omega amino acid metabolism inborn disorder of amino acid and other organic acid metabolism UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017685 MONDO:0017214 False vitamin B12-responsive methylmalonic acidemia, type cblDv2 vitamin B12-responsive methylmalonic acidemia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017685 MONDO:0100463 False vitamin B12-responsive methylmalonic acidemia, type cblDv2 methylmalonic aciduria and/or homocystinuria, cblD type UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017686 MONDO:0005071 False inborn aminoacylase deficiency nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017686 MONDO:0019052 False inborn aminoacylase deficiency inborn errors of metabolism UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017687 MONDO:0019216 False disorder of neutral amino acid transport inborn disorder of amino acid transport UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017688 MONDO:0016789 False disorder of glycolysis pyruvate metabolism disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017688 MONDO:0019214 False disorder of glycolysis inborn carbohydrate metabolic disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017688 MONDO:0019254 False disorder of glycolysis inborn disorder of purine or pyrimidine metabolism UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017689 MONDO:0019214 False disorder of fructose metabolism inborn carbohydrate metabolic disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017690 MONDO:0019214 False disorder of galactose metabolism inborn carbohydrate metabolic disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017691 MONDO:0009257 False erythrocyte galactose epimerase deficiency galactose epimerase deficiency UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017691 MONDO:0800152 False erythrocyte galactose epimerase deficiency disorder of galactose and fructose metabolism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017692 MONDO:0009257 False generalized galactose epimerase deficiency galactose epimerase deficiency UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017692 MONDO:0800152 False generalized galactose epimerase deficiency disorder of galactose and fructose metabolism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017694 MONDO:0009290 False glycogen storage disease due to acid maltase deficiency, infantile onset glycogen storage disease II UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017695 MONDO:0009292 False glycogen storage disease due to glycogen branching enzyme deficiency, progressive hepatic form glycogen storage disease due to glycogen branching enzyme deficiency UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017696 MONDO:0009292 False glycogen storage disease due to glycogen branching enzyme deficiency, non progressive hepatic form glycogen storage disease due to glycogen branching enzyme deficiency UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017697 MONDO:0009292 False glycogen storage disease due to glycogen branching enzyme deficiency, fatal perinatal neuromuscular form glycogen storage disease due to glycogen branching enzyme deficiency UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017698 MONDO:0009292 False glycogen storage disease due to glycogen branching enzyme deficiency, congenital neuromuscular form glycogen storage disease due to glycogen branching enzyme deficiency UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017699 MONDO:0009292 False glycogen storage disease due to glycogen branching enzyme deficiency, childhood combined hepatic and myopathic form glycogen storage disease due to glycogen branching enzyme deficiency UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017700 MONDO:0009292 False glycogen storage disease due to glycogen branching enzyme deficiency, childhood neuromuscular form glycogen storage disease due to glycogen branching enzyme deficiency UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017701 MONDO:0009292 False glycogen storage disease due to glycogen branching enzyme deficiency, adult neuromuscular form glycogen storage disease due to glycogen branching enzyme deficiency UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017703 MONDO:0100257 False disorder of glyoxylate metabolism peroxisomal single enzyme/protein defect UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017704 MONDO:0005384 False familial partial epilepsy focal epilepsy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017704 MONDO:0015653 False familial partial epilepsy monogenic epilepsy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017704 MONDO:0020072 False familial partial epilepsy childhood-onset epilepsy syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017704 MONDO:0020073 False familial partial epilepsy adolescent-onset epilepsy syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017705 MONDO:0020295 False congenital pulmonary venous return anomaly congenital pulmonary veins anomaly UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017706 MONDO:0019214 False disorder of carbohydrate transmembrane transport and absorption inborn carbohydrate metabolic disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017708 MONDO:0015905 False mevalonate kinase deficiency syndromic dyslipidemia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017708 MONDO:0017953 False mevalonate kinase deficiency hereditary periodic fever syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017708 MONDO:0019240 False mevalonate kinase deficiency sterol biosynthesis disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017711 MONDO:0013700 False pancreatic colipase deficiency pancreatic triacylglycerol lipase deficiency UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017712 MONDO:0013700 False combined pancreatic lipase-colipase deficiency pancreatic triacylglycerol lipase deficiency UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017713 MONDO:0019223 False disorder of fatty acid oxidation and ketogenesis disorder of fatty acid and ketone body metabolism UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017713 MONDO:0037858 False disorder of fatty acid oxidation and ketogenesis inherited fatty acid metabolism disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017713 MONDO:0045022 False disorder of fatty acid oxidation and ketogenesis disorder of organic acid metabolism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017714 MONDO:0017713 False acyl-CoA dehydrogenase deficiency disorder of fatty acid oxidation and ketogenesis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017715 MONDO:0017713 False 3-hydroxyacyl-CoA dehydrogenase deficiency disorder of fatty acid oxidation and ketogenesis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017716 MONDO:0019223 False disorder of carnitine cycle and carnitine transport disorder of fatty acid and ketone body metabolism UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017719 MONDO:0019255 False gangliosidosis sphingolipidosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0017720 MONDO:0017719 False GM2 gangliosidosis gangliosidosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0017720 MONDO:0024237 False GM2 gangliosidosis inherited neurodegenerative disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017721 MONDO:0010006 False Sandhoff disease, infantile form Sandhoff disease UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017722 MONDO:0010006 False Sandhoff disease, juvenile form Sandhoff disease UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017723 MONDO:0010006 False Sandhoff disease, adult form Sandhoff disease UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017724 MONDO:0010100 False Tay-Sachs disease, b variant, infantile form Tay-Sachs disease UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017725 MONDO:0010100 False Tay-Sachs disease, b variant, juvenile form Tay-Sachs disease UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017726 MONDO:0010100 False Tay-Sachs disease, B variant, adult form Tay-Sachs disease UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017727 MONDO:0020292 False fixed subaortic stenosis congenital anomaly of the great arteries UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017728 MONDO:0010100 False Tay-Sachs disease, B1 variant Tay-Sachs disease UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017729 MONDO:0009591 False metachromatic leukodystrophy, late infantile form metachromatic leukodystrophy, juvenile form UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017730 MONDO:0009591 False metachromatic leukodystrophy, adult form metachromatic leukodystrophy, juvenile form UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017731 MONDO:0002561 False glycoproteinosis lysosomal storage disease UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017732 MONDO:0009561 False alpha-mannosidosis, infantile form alpha-mannosidosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017733 MONDO:0009561 False alpha-mannosidosis, adult form alpha-mannosidosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017734 MONDO:0019251 False sialidosis oligosaccharidosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017735 MONDO:0042981 False congenital aortic valve stenosis aortic valve stenosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017736 MONDO:0002561 False disorder of sialic acid metabolism lysosomal storage disease UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017737 MONDO:0017706 False intermediate severe Salla disease disorder of carbohydrate transmembrane transport and absorption UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017737 MONDO:0019366 False intermediate severe Salla disease free sialic acid storage disease UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017738 MONDO:0002561 False lysosomal glycogen storage disease lysosomal storage disease UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017739 MONDO:0019052 False disorder of lysosomal-related organelles inborn errors of metabolism UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017740 MONDO:0015286 False disorder of protein N-glycosylation congenital disorder of glycosylation UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017740 MONDO:0045010 False disorder of protein N-glycosylation glycoprotein metabolism disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017741 MONDO:0015286 False disorder of protein O-glycosylation congenital disorder of glycosylation UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017741 MONDO:0045010 False disorder of protein O-glycosylation glycoprotein metabolism disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017746 MONDO:0700092 False atypical Rett syndrome neurodevelopmental disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017747 MONDO:0017741 False disorder of fucoglycosan synthesis disorder of protein O-glycosylation UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017748 MONDO:0002525 False inborn disorder of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation inherited lipid metabolism disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017748 MONDO:0015286 False inborn disorder of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation congenital disorder of glycosylation UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017748 MONDO:0024321 False inborn disorder of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation disorder of GPI anchor biosynthesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017749 MONDO:0015286 False disorder of multiple glycosylation congenital disorder of glycosylation UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017750 MONDO:0017749 False defect in conserved oligomeric Golgi complex disorder of multiple glycosylation UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017752 MONDO:0017749 False defect in V-ATPase disorder of multiple glycosylation UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017754 MONDO:0019052 False inborn disorder of porphyrin metabolism inborn errors of metabolism UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017754 MONDO:0037821 False inborn disorder of porphyrin metabolism porphyrin metabolism disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017755 MONDO:0017754 False inborn disorder of bilirubin metabolism inborn disorder of porphyrin metabolism UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017755 MONDO:0024431 False inborn disorder of bilirubin metabolism bilirubin metabolism disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017757 MONDO:0019052 False disorder of metabolite absorption and transport inborn errors of metabolism UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017758 MONDO:0017757 False disorder of vitamin and non-protein cofactor absorption and transport disorder of metabolite absorption and transport UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017759 MONDO:0019219 False disorder of catecholamine synthesis inborn disorder of neurotransmitter metabolism and transport UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017761 MONDO:0017757 False disorder of mineral absorption and transport disorder of metabolite absorption and transport UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017762 MONDO:0017761 False disorder of copper metabolism disorder of mineral absorption and transport UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017763 MONDO:0017761 False disorder of iron metabolism and transport disorder of mineral absorption and transport UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017764 MONDO:0017761 False disorder of zinc metabolism disorder of mineral absorption and transport UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017765 MONDO:0017761 False disorder of magnesium transport disorder of mineral absorption and transport UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017766 MONDO:0017761 False disorder of manganese transport disorder of mineral absorption and transport UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017767 MONDO:0005554 False rheumatic fever rheumatic disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0017767 MONDO:0021673 False rheumatic fever post-bacterial disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017768 MONDO:0100036 False reflex epilepsy variable age onset epilepsy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0017769 MONDO:0005046 False acquired immunodeficiency immune system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017770 MONDO:0015160 False Robinow-like syndrome multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017771 MONDO:0015830 False Mayer-Rokitansky-Kuster-Hauser syndrome partial bilateral aplasia of the mullerian ducts UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017772 MONDO:0005093 False oral erosive lichen skin disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017774 MONDO:0001822 False hypobetalipoproteinemia hypolipoproteinemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0017775 MONDO:0000314 False melioidosis primary bacterial infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0017773 MONDO:0005066 False hypoalphalipoproteinemia metabolic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017775 MONDO:0043953 False melioidosis burkholderia infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017776 MONDO:0000316 False nocardiosis opportunistic bacterial infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0017778 MONDO:0005328 False lamellar ichthyosis eye disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017778 MONDO:0100118 False lamellar ichthyosis hereditary skin disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017779 MONDO:0019251 False alpha-N-acetylgalactosaminidase deficiency oligosaccharidosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017780 MONDO:0015159 False 20p13 microdeletion syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017780 MONDO:0016898 False 20p13 microdeletion syndrome partial monosomy of the short arm of chromosome 20 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017781 MONDO:0022174 False 12p12.1 microdeletion syndrome chromosome 12p deletion UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017782 MONDO:0002254 False developmental and speech delay due to SOX5 deficiency syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017783 MONDO:0002356 False congenital pancreatic cyst pancreas disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017784 MONDO:0004950 False Epstein-Barr virus-associated gastric carcinoma gastric carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017784 MONDO:0017344 False Epstein-Barr virus-associated gastric carcinoma Epstein-Barr virus-associated carcinoma UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017785 MONDO:0005073 False PENS syndrome melanocytic nevus UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017785 MONDO:0100118 False PENS syndrome hereditary skin disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017786 MONDO:0016953 False 2q23.1 microduplication syndrome partial duplication of the long arm of chromosome 2 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017787 MONDO:0005046 False erythroderma desquamativum immune system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017788 MONDO:0015161 False contractures - webbed neck - micrognathia - hypoplastic nipples syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017789 MONDO:0005328 False idiopathic linear interstitial keratitis eye disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017789 MONDO:0700007 False idiopathic linear interstitial keratitis idiopathic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017790 MONDO:0000147 False gastric adenocarcinoma and proximal polyposis of the stomach polyposis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017790 MONDO:0018502 False gastric adenocarcinoma and proximal polyposis of the stomach hereditary gastric cancer UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017791 MONDO:0019019 False high bone mass osteogenesis imperfecta osteogenesis imperfecta UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017792 MONDO:0000508 False 7p22.1 microduplication syndrome syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017792 MONDO:0002320 False 7p22.1 microduplication syndrome congenital nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017792 MONDO:0015159 False 7p22.1 microduplication syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017792 MONDO:0016944 False 7p22.1 microduplication syndrome partial duplication of the short arm of chromosome 7 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017793 MONDO:0019755 False marfanoid habitus-inguinal hernia-advanced bone age syndrome developmental defect during embryogenesis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017794 MONDO:0017010 False Xq12-q13.3 duplication syndrome partial duplication of the long arm of chromosome X UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017795 MONDO:0000636 False ameloblastoma musculoskeletal system benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0017795 MONDO:0036976 False ameloblastoma benign epithelial neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017798 MONDO:0002254 False Spigelian hernia-cryptorchidism syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017799 MONDO:0000646 False Meigs syndrome ovarian benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017799 MONDO:0021058 False Meigs syndrome neoplastic syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017800 MONDO:0000646 False pseudo-Meigs syndrome ovarian benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017801 MONDO:0000646 False atypical Meigs syndrome ovarian benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017802 MONDO:0024387 False ovarian fibrothecoma benign ovarian sex cord-stromal tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -26497,71 +28296,35 @@ MONDO:0017802 MONDO:0700036 False ovarian fibrothecoma fibrothecoma UNSUPPORTED- MONDO:0017803 MONDO:0005559 False primary progressive apraxia of speech neurodegenerative disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017804 MONDO:0002254 False autosomal recessive leukoencephalopathy-ischemic stroke-retinitis pigmentosa syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017804 MONDO:0003847 False autosomal recessive leukoencephalopathy-ischemic stroke-retinitis pigmentosa syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017805 MONDO:0015159 False intellectual disability-hypotonia-brachycephaly-pyloric stenosis-cryptorchidism syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017805 MONDO:0100239 False intellectual disability-hypotonia-brachycephaly-pyloric stenosis-cryptorchidism syndrome inherited hypertrophic pyloric stenosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017806 MONDO:0015159 False 15q overgrowth syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017806 MONDO:0016965 False 15q overgrowth syndrome partial duplication of the long arm of chromosome 15 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017806 MONDO:0019716 False 15q overgrowth syndrome overgrowth syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017807 MONDO:0021058 False growing teratoma syndrome neoplastic syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017808 MONDO:0005071 False duplication of the pituitary gland nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017808 MONDO:0005151 False duplication of the pituitary gland endocrine system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017808 MONDO:0021147 False duplication of the pituitary gland disorder of development or morphogenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017809 MONDO:0011706 False parkinsonism due to ATP13A2 deficiency Kufor-Rakeb syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017809 MONDO:0019262 False parkinsonism due to ATP13A2 deficiency juvenile neuronal ceroid lipofuscinosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017810 MONDO:0018590 False variant ABeta2M amyloidosis ABeta2M amyloidosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0017810 MONDO:0018634 False variant ABeta2M amyloidosis hereditary amyloidosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017811 MONDO:0002254 False severe neonatal hypotonia-seizures-encephalopathy syndrome due to 5q31.3 microdeletion syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017811 MONDO:0016904 False severe neonatal hypotonia-seizures-encephalopathy syndrome due to 5q31.3 microdeletion partial deletion of the long arm of chromosome 5 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017812 MONDO:0019716 False segmental progressive overgrowth syndrome with fibroadipose hyperplasia overgrowth syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017813 MONDO:0003847 False van Maldergem syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0017813 MONDO:0015159 False van Maldergem syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017815 MONDO:0017410 False acquired porencephaly porencephaly UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017816 MONDO:0019438 False primary systemic amyloidosis AL amyloidosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017817 MONDO:0019438 False primary localized amyloidosis AL amyloidosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017818 MONDO:0005385 False lethal arteriopathy syndrome due to fibulin-4 deficiency vascular disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017819 MONDO:0007436 False atypical dentin dysplasia due to SMOC2 deficiency dentin dysplasia type I UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017822 MONDO:0003429 False mixed functioning pituitary adenoma functioning pituitary gland adenoma UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017823 MONDO:0017822 False somatomammotropinoma mixed functioning pituitary adenoma UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017824 MONDO:0006373 False familial isolated pituitary adenoma pituitary gland adenoma UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017824 MONDO:0023603 False familial isolated pituitary adenoma hereditary disorder of connective tissue UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017825 MONDO:0019613 False silent pituitary adenoma non-functioning pituitary adenoma UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017826 MONDO:0019613 False null pituitary adenoma non-functioning pituitary adenoma UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017827 MONDO:0002217 False malignant peripheral nerve sheath tumor central nervous system sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0017827 MONDO:0016749 False malignant peripheral nerve sheath tumor tumor of cranial and spinal nerves UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017827 MONDO:0100342 False malignant peripheral nerve sheath tumor malignant glioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0017829 MONDO:0000426 False autosomal dominant proximal renal tubular acidosis autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017829 MONDO:0008369 False autosomal dominant proximal renal tubular acidosis proximal renal tubular acidosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017829 MONDO:0015962 False autosomal dominant proximal renal tubular acidosis inherited renal tubular disease UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017829 MONDO:0019052 False autosomal dominant proximal renal tubular acidosis inborn errors of metabolism UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017830 MONDO:0010079 False severe Canavan disease Canavan disease UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017831 MONDO:0010079 False mild Canavan disease Canavan disease UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017832 MONDO:0020590 False mycobacterium xenopi infection mycobacterial infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017833 MONDO:0015691 False primary hypereosinophilic syndrome hypereosinophilic syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017834 MONDO:0015691 False secondary hypereosinophilic syndrome hypereosinophilic syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017835 MONDO:0017834 False lymphocytic hypereosinophilic syndrome secondary hypereosinophilic syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017836 MONDO:0019270 False erythrokeratoderma en cocardes erythrokeratoderma UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017837 MONDO:0002242 False multiple sclerosis-ichthyosis-factor VIII deficiency syndrome coagulation protein disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017837 MONDO:0002243 False multiple sclerosis-ichthyosis-factor VIII deficiency syndrome hemorrhagic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017837 MONDO:0002254 False multiple sclerosis-ichthyosis-factor VIII deficiency syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017838 MONDO:0002185 False sclerosteosis hyperostosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0017838 MONDO:0003847 False sclerosteosis hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0017839 MONDO:0008728 False classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, salt wasting form classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017840 MONDO:0008728 False classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, simple virilizing form classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017842 MONDO:0005308 False Senior-Loken syndrome ciliopathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0017842 MONDO:0006025 False Senior-Loken syndrome autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0017842 MONDO:0015962 False Senior-Loken syndrome inherited renal tubular disease UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017844 MONDO:0000607 False Sezary syndrome primary cutaneous T-cell non-Hodgkin lymphoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0017845 MONDO:0100309 False spastic ataxia hereditary ataxia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0017843 MONDO:0005087 False congenital pulmonary sequestration respiratory system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017846 MONDO:0000426 False autosomal dominant spastic ataxia autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017846 MONDO:0017845 False autosomal dominant spastic ataxia spastic ataxia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017847 MONDO:0006025 False autosomal recessive spastic ataxia autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017847 MONDO:0017845 False autosomal recessive spastic ataxia spastic ataxia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017849 MONDO:0005087 False Siegler-Brewer-Carey syndrome respiratory system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017850 MONDO:0010831 False sirenomelia familial caudal dysgenesis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017851 MONDO:0017666 False erythrokeratodermia variabilis diffuse palmoplantar keratoderma UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017852 MONDO:0020071 False infantile spasms-broad thumbs syndrome infantile epilepsy syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017853 MONDO:0000771 False hypersensitivity pneumonitis allergic respiratory disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0017853 MONDO:0015925 False hypersensitivity pneumonitis interstitial lung disease UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0017855 MONDO:0015974 False T-B- severe combined immunodeficiency severe combined immunodeficiency UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017853 MONDO:0043905 False hypersensitivity pneumonitis pneumonitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017856 MONDO:0002254 False X-linked spasticity-intellectual disability-epilepsy syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017857 MONDO:0002254 False spina bifida-hypospadias syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017859 MONDO:0029000 False colchicine poisoning poisoning UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -26570,116 +28333,58 @@ MONDO:0017861 MONDO:0029000 False ethylene glycol poisoning poisoning UNSUPPORTE MONDO:0017862 MONDO:0029000 False paraquat poisoning poisoning UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017863 MONDO:0800388 False digitalis poisoning cardiac glycoside intoxication UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017864 MONDO:0020292 False congenital pulmonary veins atresia or stenosis congenital anomaly of the great arteries UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017865 MONDO:0020292 False congenital pulmonary valve stenosis congenital anomaly of the great arteries UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017866 MONDO:0017865 False subpulmonary stenosis congenital pulmonary valve stenosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017867 MONDO:0013415 False distal 17p13.1 microdeletion syndrome chromosome 17p13.1 deletion syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017867 MONDO:0015159 False distal 17p13.1 microdeletion syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017868 MONDO:0003847 False diencephalic-mesencephalic junction dysplasia hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017868 MONDO:0021147 False diencephalic-mesencephalic junction dysplasia disorder of development or morphogenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017869 MONDO:0005328 False chondroectodermal dysplasia with night blindness eye disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017869 MONDO:0018230 False chondroectodermal dysplasia with night blindness skeletal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017869 MONDO:0019287 False chondroectodermal dysplasia with night blindness ectodermal dysplasia syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017870 MONDO:0017865 False supravalvular pulmonary stenosis congenital pulmonary valve stenosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017871 MONDO:0019801 False bilateral massive adrenal hemorrhage acute adrenal insufficiency UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017872 MONDO:0018087 False Lujo hemorrhagic fever viral hemorrhagic fever UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017874 MONDO:0005651 False Argentine hemorrhagic fever arenavirus hemorrhagic fever UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017874 MONDO:0100120 False Argentine hemorrhagic fever vector-borne disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017875 MONDO:0018087 False Bolivian hemorrhagic fever viral hemorrhagic fever UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017875 MONDO:0100120 False Bolivian hemorrhagic fever vector-borne disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017876 MONDO:0018087 False Venezuelan hemorrhagic fever viral hemorrhagic fever UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017876 MONDO:0100120 False Venezuelan hemorrhagic fever vector-borne disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017877 MONDO:0018087 False Brazilian hemorrhagic fever viral hemorrhagic fever UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017878 MONDO:0018087 False Chapare hemorrhagic fever viral hemorrhagic fever UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017879 MONDO:0005275 False hantavirus pulmonary syndrome lung disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0017879 MONDO:0018087 False hantavirus pulmonary syndrome viral hemorrhagic fever UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017879 MONDO:0002254 False hantavirus pulmonary syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0017879 MONDO:0005780 False hantavirus pulmonary syndrome hantavirus infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017879 MONDO:0024352 False hantavirus pulmonary syndrome viral respiratory tract infection UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017879 MONDO:0100120 False hantavirus pulmonary syndrome vector-borne disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017880 MONDO:0100120 False Rift valley fever vector-borne disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017881 MONDO:0005763 False Kyasanur forest disease Flaviviridae infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017881 MONDO:0018087 False Kyasanur forest disease viral hemorrhagic fever UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017882 MONDO:0005763 False Omsk hemorrhagic fever Flaviviridae infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017882 MONDO:0018087 False Omsk hemorrhagic fever viral hemorrhagic fever UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017882 MONDO:0025294 False Omsk hemorrhagic fever tick-borne infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017886 MONDO:0005086 False MIT family translocation renal cell carcinoma renal cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017892 MONDO:0015168 False autosomal recessive myogenic arthrogryposis multiplex congenita arthrogryposis multiplex congenita UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017892 MONDO:0019950 False autosomal recessive myogenic arthrogryposis multiplex congenita congenital muscular dystrophy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017893 MONDO:0018874 False inherited acute myeloid leukemia acute myeloid leukemia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017893 MONDO:0023603 False inherited acute myeloid leukemia hereditary disorder of connective tissue UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017895 MONDO:0017896 False familial papillary or follicular thyroid carcinoma familial nonmedullary thyroid carcinoma UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017896 MONDO:0003847 False familial nonmedullary thyroid carcinoma hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017896 MONDO:0015075 False familial nonmedullary thyroid carcinoma thyroid gland carcinoma UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017900 MONDO:0019146 False autosomal recessive Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR2 deficiency inherited susceptibility to mycobacterial diseases UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017901 MONDO:0015979 False autosomal recessive Mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency hereditary predisposition to infections UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017902 MONDO:0015979 False autosomal recessive Mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR2 deficiency hereditary predisposition to infections UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017903 MONDO:0019146 False autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR2 deficiency inherited susceptibility to mycobacterial diseases UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017904 MONDO:0005066 False steroid dehydrogenase deficiency-dental anomalies syndrome metabolic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017904 MONDO:0021147 False steroid dehydrogenase deficiency-dental anomalies syndrome disorder of development or morphogenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017905 MONDO:0019146 False X-linked Mendelian susceptibility to mycobacterial diseases inherited susceptibility to mycobacterial diseases UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017906 MONDO:0015301 False amyloidosis cutis dyschromia primary cutaneous amyloidosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0017907 MONDO:0003454 False primary lymphoma of the conjunctiva conjunctival cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017907 MONDO:0004034 False primary lymphoma of the conjunctiva eye lymphoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017907 MONDO:0017207 False primary lymphoma of the conjunctiva primary organ-specific lymphoma UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017909 MONDO:0024626 False inherited glutathione synthetase deficiency defective phagocytic cell engulfment UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017909 MONDO:0040566 False inherited glutathione synthetase deficiency inherited glutathione metabolism disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017910 MONDO:0020102 False dehydrated hereditary stomatocytosis hereditary stomatocytosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017913 MONDO:0019064 False pure or complex hereditary spastic paraplegia hereditary spastic paraplegia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017917 MONDO:0015150 False maternally-inherited spastic paraplegia complex hereditary spastic paraplegia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017918 MONDO:0002254 False white matter hypoplasia-corpus callosum agenesis-intellectual disability syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017919 MONDO:0005240 False exstrophy-epispadias complex kidney disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0017919 MONDO:0019356 False exstrophy-epispadias complex urogenital tract malformation UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017920 MONDO:0002254 False deafness-genital anomalies-metacarpal and metatarsal synostosis syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017920 MONDO:0015159 False deafness-genital anomalies-metacarpal and metatarsal synostosis syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017921 MONDO:0002254 False hearing loss-familial salivary gland insensitivity to aldosterone syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017923 MONDO:0001411 False multiple synostoses syndrome synostosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0017923 MONDO:0002254 False multiple synostoses syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0017923 MONDO:0003847 False multiple synostoses syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0017923 MONDO:0019054 False multiple synostoses syndrome congenital limb malformation UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017924 MONDO:0002254 False central nervous system calcification-deafness-tubular acidosis-anemia syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017925 MONDO:0003778 False T-cell immunodeficiency with epidermodysplasia verruciformis inborn error of immunity UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017926 MONDO:0017190 False multiple paragangliomas associated with polycythemia sporadic pheochromocytoma/secreting paraganglioma UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017927 MONDO:0019698 False severe lateral tibial bowing with short stature bent bone dysplasia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017928 MONDO:0000508 False 9p13 microdeletion syndrome syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017928 MONDO:0008013 False 9p13 microdeletion syndrome chromosome 9p deletion syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017929 MONDO:0002320 False congenital achiasma congenital nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017929 MONDO:0021147 False congenital achiasma disorder of development or morphogenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017930 MONDO:0005381 False mixed sclerosing bone dystrophy with extra-skeletal manifestations bone disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017931 MONDO:0016112 False hereditary inclusion body myopathy type 4 hereditary inclusion-body myopathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017932 MONDO:0015159 False muscular hypertrophy-hepatomegaly-polyhydramnios syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017933 MONDO:0016387 False hypertrophic cardiomyopathy and renal tubular disease due to mitochondrial DNA mutation mitochondrial oxidative phosphorylation disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017934 MONDO:0015159 False aphonia-deafness-retinal dystrophy-bifid halluces-intellectual disability syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017935 MONDO:0015624 False hyperinsulinism due to HNF1A deficiency diazoxide-sensitive diffuse hyperinsulinism UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017936 MONDO:0019952 False benign Samaritan congenital myopathy congenital myopathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017937 MONDO:0019548 False autosomal dominant intermediate Charcot-Marie-Tooth disease with neuropathic pain autosomal dominant intermediate Charcot-Marie-Tooth disease UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017939 MONDO:0018948 False classic multiminicore myopathy multiminicore myopathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017939 MONDO:0100493 False classic multiminicore myopathy autosomal recessive titinopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017940 MONDO:0018993 False autosomal dominant Charcot-Marie-Tooth disease type 2 due to KIF5A mutation Charcot-Marie-Tooth disease type 2 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017941 MONDO:0005643 False chikungunya Alphavirus infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017941 MONDO:0018093 False chikungunya arbovirus fever UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017941 MONDO:0100120 False chikungunya vector-borne disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017942 MONDO:0020067 False Hendra virus infection infectious encephalitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017943 MONDO:0007179 False autoerythrocyte sensitization syndrome autoimmune disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017944 MONDO:0000827 False invasive non-typhoidal salmonellosis salmonellosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017945 MONDO:0011583 False ABetaL34V amyloidosis cerebral amyloid angiopathy, APP-related UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017946 MONDO:0011583 False ABeta amyloidosis, Iowa type cerebral amyloid angiopathy, APP-related UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017947 MONDO:0011583 False ABeta amyloidosis, Italian type cerebral amyloid angiopathy, APP-related UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017948 MONDO:0011583 False ABetaA21G amyloidosis cerebral amyloid angiopathy, APP-related UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017949 MONDO:0011583 False ABeta amyloidosis, Arctic type cerebral amyloid angiopathy, APP-related UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017951 MONDO:0019287 False trichorhinophalangeal syndrome ectodermal dysplasia syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING -MONDO:0017951 MONDO:0019695 False trichorhinophalangeal syndrome acromelic dysplasia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017953 MONDO:0015137 False hereditary periodic fever syndrome periodic fever syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017953 MONDO:0023603 False hereditary periodic fever syndrome hereditary disorder of connective tissue UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017958 MONDO:0019751 False magic syndrome autoinflammatory syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017967 MONDO:0020040 False testicular agenesis 46,XY disorder of sex development UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017968 MONDO:0020040 False 46,XY ovotesticular disorder of sex development 46,XY disorder of sex development UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017972 MONDO:0008725 False classic congenital lipoid adrenal hyperplasia due to STAR deficency congenital lipoid adrenal hyperplasia due to STAR deficency UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017973 MONDO:0008725 False non-classic congenital lipoid adrenal hyperplasia due to STAR deficency congenital lipoid adrenal hyperplasia due to STAR deficency UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017975 MONDO:0002145 False sex chromosome disorder of sex development disorder of sexual differentiation UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017979 MONDO:0002459 False autoimmune lymphoproliferative syndrome type IV hypersensitivity disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0017979 MONDO:0007179 False autoimmune lymphoproliferative syndrome autoimmune disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0017979 MONDO:0016537 False autoimmune lymphoproliferative syndrome lymphoproliferative syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0017979 MONDO:0021058 False autoimmune lymphoproliferative syndrome neoplastic syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017980 MONDO:0002254 False syngnathia multiple anomalies syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017980 MONDO:0003847 False syngnathia multiple anomalies hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017980 MONDO:0018234 False syngnathia multiple anomalies dysostosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017981 MONDO:0003847 False syngnathia-cleft palate syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017983 MONDO:0001411 False humero-radio-ulnar synostosis synostosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017983 MONDO:0003847 False humero-radio-ulnar synostosis hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -26687,14 +28392,14 @@ MONDO:0017985 MONDO:0001411 False congenital radioulnar synostosis synostosis UN MONDO:0017986 MONDO:0002525 False disorder of plasmalogens biosynthesis inherited lipid metabolism disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017986 MONDO:0100257 False disorder of plasmalogens biosynthesis peroxisomal single enzyme/protein defect UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017988 MONDO:0007263 False multifocal atrial tachycardia cardiac rhythm disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017990 MONDO:0000992 False catecholaminergic polymorphic ventricular tachycardia heart conduction disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0017989 MONDO:0007263 False His bundle tachycardia cardiac rhythm disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017990 MONDO:0008648 False catecholaminergic polymorphic ventricular tachycardia ventricular tachycardia, familial UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0017990 MONDO:0020575 False catecholaminergic polymorphic ventricular tachycardia polymorphic ventricular tachycardia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017991 MONDO:0015236 False Takayasu arteritis aortic arch defects UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017991 MONDO:0002254 False Takayasu arteritis syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0017991 MONDO:0020592 False Takayasu arteritis disorder of pharynx UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017991 MONDO:0043494 False Takayasu arteritis arteritis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017992 MONDO:0002412 False autoinflammatory syndrome with pyogenic bacterial infection and amylopectinosis disorder of glycogen metabolism UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017992 MONDO:0005046 False autoinflammatory syndrome with pyogenic bacterial infection and amylopectinosis immune system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017992 MONDO:0019751 False autoinflammatory syndrome with pyogenic bacterial infection and amylopectinosis autoinflammatory syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017992 MONDO:0023603 False autoinflammatory syndrome with pyogenic bacterial infection and amylopectinosis hereditary disorder of connective tissue UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017993 MONDO:0011057 False cerebral sinovenous thrombosis cerebrovascular disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017994 MONDO:0002254 False severe early-onset obesity-insulin resistance syndrome due to SH2B1 deficiency syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -26702,165 +28407,85 @@ MONDO:0017994 MONDO:0003847 False severe early-onset obesity-insulin resistance MONDO:0017995 MONDO:0002254 False spondylocostal dysostosis-hypospadias-intellectual disability syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017995 MONDO:0003847 False spondylocostal dysostosis-hypospadias-intellectual disability syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017995 MONDO:0015159 False spondylocostal dysostosis-hypospadias-intellectual disability syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017997 MONDO:0015159 False telecanthus-hypertelorism-strabismus-pes cavus syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017998 MONDO:0018307 False PLA2G6-associated neurodegeneration neurodegeneration with brain iron accumulation UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017999 MONDO:0015150 False fatty acid hydroxylase-associated neurodegeneration complex hereditary spastic paraplegia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017999 MONDO:0015905 False fatty acid hydroxylase-associated neurodegeneration syndromic dyslipidemia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017999 MONDO:0018117 False fatty acid hydroxylase-associated neurodegeneration disorder of phospholipids, sphingolipids and fatty acids biosynthesis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017999 MONDO:0018307 False fatty acid hydroxylase-associated neurodegeneration neurodegeneration with brain iron accumulation UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018000 MONDO:0009332 False hereditary thrombocytosis with transverse limb defect congenital hematological disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018000 MONDO:0018234 False hereditary thrombocytosis with transverse limb defect dysostosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018000 MONDO:0019054 False hereditary thrombocytosis with transverse limb defect congenital limb malformation UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018000 MONDO:0021181 False hereditary thrombocytosis with transverse limb defect inherited blood coagulation disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018001 MONDO:0024296 False inverse Klippel-Trenaunay syndrome vascular neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018002 MONDO:0009637 False adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy inborn mitochondrial myopathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018002 MONDO:0016387 False adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy mitochondrial oxidative phosphorylation disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018004 MONDO:0018872 False acute megakaryoblastic leukemia without down syndrome acute megakaryoblastic leukemia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018005 MONDO:0015087 False spastic paraplegia-Paget disease of bone syndrome autosomal dominant complex spastic paraplegia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018006 MONDO:0016108 False adult-onset distal myopathy due to VCP mutation autosomal dominant distal myopathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018007 MONDO:0700086 False mosaic genome-wide paternal uniparental disomy uniparental disomy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018008 MONDO:0005110 False idiopathic giant cell myocarditis idiopathic cardiomyopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018009 MONDO:0004298 False non-hypoproteinemic hypertrophic gastropathy stomach disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018010 MONDO:0020122 False juvenile idiopathic inflammatory myopathy acquired idiopathic inflammatory myopathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018011 MONDO:0018010 False juvenile overlap myositis juvenile idiopathic inflammatory myopathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018013 MONDO:0018904 False non-immunoglobulin-mediated membranoproliferative glomerulonephritis primary membranoproliferative glomerulonephritis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018014 MONDO:0017714 False transient neonatal multiple acyl-CoA dehydrogenase deficiency acyl-CoA dehydrogenase deficiency UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018015 MONDO:0005554 False intermittent hydrarthrosis rheumatic disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018016 MONDO:0015066 False classic neuroendocrine tumor of appendix neuroendocrine tumor of the appendix, well differentiated, low or intermediate grade UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018017 MONDO:0002120 False goblet cell carcinoma neuroendocrine carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018017 MONDO:0015066 False goblet cell carcinoma neuroendocrine tumor of the appendix, well differentiated, low or intermediate grade UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018018 MONDO:0016345 False wild type ATTR amyloidosis non-familial restrictive cardiomyopathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018018 MONDO:0019065 False wild type ATTR amyloidosis amyloidosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0018017 MONDO:0021659 False goblet cell carcinoma combined carcinoid and adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018019 MONDO:0029000 False lead poisoning poisoning UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018020 MONDO:0029000 False mercury poisoning poisoning UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018021 MONDO:0002254 False hypotrichosis-deafness syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018022 MONDO:0017145 False hemoglobin Lepore-beta-thalassemia syndrome beta-thalassemia and related diseases UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018023 MONDO:0018963 False hemoglobin M disease hereditary methemoglobinemia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018024 MONDO:0002406 False hydroa vacciniforme dermatitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018025 MONDO:0005093 False chronic actinic dermatitis skin disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018026 MONDO:0019934 False tetraploidy syndrome polyploidy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018027 MONDO:0019040 False duplication/inversion 15q11 chromosomal disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018028 MONDO:0016942 False tetrasomy 5p partial trisomy/tetrasomy of the short arm of chromosome 5 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018029 MONDO:0002241 False congenital factor XIII deficiency factor XIII deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018029 MONDO:0002243 False congenital factor XIII deficiency hemorrhagic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0018029 MONDO:0009332 False congenital factor XIII deficiency congenital hematological disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018030 MONDO:0700043 False tetrasomy 9p syndrome caused by partial chromosomal duplication of the short arm of chromosome 9 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018034 MONDO:0016677 False thalidomide embryopathy toxic or drug-related embryofetopathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018034 MONDO:0018234 False thalidomide embryopathy dysostosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018034 MONDO:0019054 False thalidomide embryopathy congenital limb malformation UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018039 MONDO:0001342 False selective IgM deficiency dysgammaglobulinemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0018034 MONDO:0002254 False thalidomide embryopathy syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018043 MONDO:0005267 False Thomas syndrome heart disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018043 MONDO:0015161 False Thomas syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018044 MONDO:0005466 False idiopathic hypersomnia hypersomnia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018044 MONDO:0700007 False idiopathic hypersomnia idiopathic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018045 MONDO:0010584 False Hoyeraal-Hreidarsson syndrome dyskeratosis congenita, X-linked UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018045 MONDO:0020022 False Hoyeraal-Hreidarsson syndrome central nervous system malformation UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018046 MONDO:0003847 False thrombocytopenia-Robin sequence syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018047 MONDO:0021181 False familial thrombomodulin anomalies inherited blood coagulation disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018048 MONDO:0000831 False heparin-induced thrombocytopenia thrombotic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018050 MONDO:0003847 False tibial aplasia-ectrodactyly syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018050 MONDO:0018234 False tibial aplasia-ectrodactyly syndrome dysostosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018050 MONDO:0019054 False tibial aplasia-ectrodactyly syndrome congenital limb malformation UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018051 MONDO:0005093 False Jessner lymphocytic infiltration of the skin skin disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018053 MONDO:0019287 False trichothiodystrophy ectodermal dysplasia syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS MONDO:0018054 MONDO:0003847 False familial atrial fibrillation hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0018054 MONDO:0004981 False familial atrial fibrillation atrial fibrillation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0018058 MONDO:0005087 False tracheal agenesis respiratory system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018058 MONDO:0021147 False tracheal agenesis disorder of development or morphogenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018058 MONDO:0024623 False tracheal agenesis otorhinolaryngologic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018059 MONDO:0006670 False meningococcal meningitis bacterial meningitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0018060 MONDO:0002242 False congenital fibrinogen deficiency coagulation protein disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018060 MONDO:0002243 False congenital fibrinogen deficiency hemorrhagic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018061 MONDO:0019287 False trichodermodysplasia-dental alterations syndrome ectodermal dysplasia syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018062 MONDO:0019287 False autosomal dominant trichoodontoonychodysplasia-syndactyly ectodermal dysplasia syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018063 MONDO:0006591 False nodular non-suppurative panniculitis panniculitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0018063 MONDO:0019296 False nodular non-suppurative panniculitis subcutaneous tissue disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018064 MONDO:0015338 False trigonocephaly-broad thumbs syndrome syndromic craniosynostosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018065 MONDO:0000156 False isolated trigonocephaly trigonocephaly UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018065 MONDO:0015337 False isolated trigonocephaly isolated craniosynostosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018066 MONDO:0019852 False trisomy X inherited primary ovarian failure UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018066 MONDO:0002254 False trisomy X syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018066 MONDO:0700027 False trisomy X chromosome X disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018066 MONDO:0700065 False trisomy X trisomy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018067 MONDO:0019934 False triploidy polyploidy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018068 MONDO:0002254 False trisomy 13 syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0018068 MONDO:0020247 False trisomy 13 congenital vitreoretinal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018068 MONDO:0700020 False trisomy 13 chromosome 13 disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018068 MONDO:0700065 False trisomy 13 trisomy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018069 MONDO:0016967 False distal trisomy 17q partial duplication of the long arm of chromosome 17 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018070 MONDO:0045024 False familial multiple fibrofolliculoma cell proliferation disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018070 MONDO:0100118 False familial multiple fibrofolliculoma hereditary skin disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018071 MONDO:0002254 False trisomy 18 syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0018071 MONDO:0700065 False trisomy 18 trisomy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018071 MONDO:0700125 False trisomy 18 chromosome 18 disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018072 MONDO:0016581 False persistent truncus arteriosus conotruncal heart malformations UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018075 MONDO:0020022 False neural tube defect central nervous system malformation UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018076 MONDO:0000314 False tuberculosis primary bacterial infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0018077 MONDO:0000314 False tularemia primary bacterial infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0018072 MONDO:0005453 False persistent truncus arteriosus congenital heart disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018076 MONDO:0020590 False tuberculosis mycobacterial infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018077 MONDO:0100120 False tularemia vector-borne disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018081 MONDO:0018087 False hemorrhagic fever-renal syndrome viral hemorrhagic fever UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018082 MONDO:0020292 False aorto-ventricular tunnel congenital anomaly of the great arteries UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018083 MONDO:0004741 False transient tyrosinemia of the newborn tyrosinemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018084 MONDO:0004994 False Uhl anomaly cardiomyopathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018085 MONDO:0002254 False umbilical cord ulceration-intestinal atresia syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018085 MONDO:0004335 False umbilical cord ulceration-intestinal atresia syndrome digestive system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018086 MONDO:0018855 False ulerythema ophryogenesis keratosis pilaris atrophicans UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018087 MONDO:0005108 False viral hemorrhagic fever viral infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018087 MONDO:0600002 False viral hemorrhagic fever hemorrhagic fever UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018088 MONDO:0005046 False familial Mediterranean fever immune system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0018088 MONDO:0017953 False familial Mediterranean fever hereditary periodic fever syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018089 MONDO:0002070 False double outlet right ventricle ventricular septal defect UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0018089 MONDO:0016581 False double outlet right ventricle conotruncal heart malformations UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018090 MONDO:0016581 False double outlet left ventricle conotruncal heart malformations UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018091 MONDO:0002254 False microcephaly-brachydactyly-kyphoscoliosis syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018091 MONDO:0003847 False microcephaly-brachydactyly-kyphoscoliosis syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018091 MONDO:0005172 False microcephaly-brachydactyly-kyphoscoliosis syndrome skeletal system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018091 MONDO:0015159 False microcephaly-brachydactyly-kyphoscoliosis syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018091 MONDO:0019054 False microcephaly-brachydactyly-kyphoscoliosis syndrome congenital limb malformation UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018092 MONDO:0017255 False Vogt-Koyanagi-Harada disease panuveitis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0018093 MONDO:0005108 False arbovirus fever viral infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018094 MONDO:0000426 False Waardenburg syndrome autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0018094 MONDO:0015161 False Waardenburg syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018095 MONDO:0015159 False Weaver-Williams syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018096 MONDO:0000429 False Weill-Marchesani syndrome autosomal genetic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0018096 MONDO:0015161 False Weill-Marchesani syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018096 MONDO:0019695 False Weill-Marchesani syndrome acromelic dysplasia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018097 MONDO:0000413 False West syndrome infancy electroclinical syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0018097 MONDO:0002254 False West syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0018097 MONDO:0100022 False West syndrome neonatal/infantile epilepsy syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018098 MONDO:0015151 False autosomal dominant limb-girdle muscular dystrophy type 1E (DES) muscular dystrophy, limb-girdle, autosomal dominant UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018098 MONDO:0016187 False autosomal dominant limb-girdle muscular dystrophy type 1E (DES) qualitative or quantitative defects of desmin UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018100 MONDO:0004689 False familial primary hypomagnesemia inborn metal metabolism disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0018100 MONDO:0015962 False familial primary hypomagnesemia inherited renal tubular disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018100 MONDO:0017765 False familial primary hypomagnesemia disorder of magnesium transport UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018101 MONDO:0017626 False familial primary hypomagnesemia with normocalciuria and normocalcemia familial primary hypomagnesemia with normocalcuria UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018103 MONDO:0004907 False Quinquaud's folliculitis decalvans alopecia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018106 MONDO:0000721 False hereditary xanthinuria xanthinuria UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018106 MONDO:0019236 False hereditary xanthinuria inborn disorder of purine metabolism UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018108 MONDO:0005132 False idiopathic disseminated cytomegalovirus infection cytomegalovirus infection UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018108 MONDO:0700007 False idiopathic disseminated cytomegalovirus infection idiopathic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018109 MONDO:0002251 False fulminant viral hepatitis hepatitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018115 MONDO:0002254 False epidermal nevus syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018116 MONDO:0005328 False galactosemia eye disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0018116 MONDO:0017690 False galactosemia disorder of galactose metabolism UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018117 MONDO:0002525 False disorder of phospholipids, sphingolipids and fatty acids biosynthesis inherited lipid metabolism disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018121 MONDO:0016387 False mitochondrial DNA maintenance syndrome mitochondrial oxidative phosphorylation disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018122 MONDO:0002254 False digital anomalies-intellectual disability-short stature syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018123 MONDO:0002254 False intellectual disability-obesity-brain malformations-facial dysmorphism syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018124 MONDO:0001068 False Oncogenic osteomalacia osteomalacia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018124 MONDO:0005151 False Oncogenic osteomalacia endocrine system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018125 MONDO:0015653 False focal epilepsy-intellectual disability-cerebro-cerebellar malformation monogenic epilepsy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018126 MONDO:0020071 False progressive myoclonic epilepsy with dystonia infantile epilepsy syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018124 MONDO:0021073 False Oncogenic osteomalacia paraneoplastic syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018127 MONDO:0005087 False 16q24.1 microdeletion syndrome respiratory system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018127 MONDO:0016914 False 16q24.1 microdeletion syndrome partial deletion of the long arm of chromosome 16 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018128 MONDO:0019707 False phalangeal microgeodic syndrome primary osteolysis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018129 MONDO:0019255 False autosomal recessive cerebellar ataxia with late-onset spasticity sphingolipidosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018129 MONDO:0020044 False autosomal recessive cerebellar ataxia with late-onset spasticity autosomal recessive metabolic cerebellar ataxia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018130 MONDO:0019219 False brain dopamine-serotonin vesicular transport disease inborn disorder of neurotransmitter metabolism and transport UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018131 MONDO:0016908 False neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-hip dysplasia syndrome due to 9q21 microdeletion partial monosomy of the long arm of chromosome 9 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018131 MONDO:0018681 False neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-hip dysplasia syndrome due to 9q21 microdeletion neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-hip dysplasia syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018133 MONDO:0020127 False attenuated Chédiak-Higashi syndrome hereditary peripheral neuropathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018133 MONDO:0024237 False attenuated Chédiak-Higashi syndrome inherited neurodegenerative disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018134 MONDO:0019189 False disorder of melanin metabolism inborn disorder of amino acid and other organic acid metabolism UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018135 MONDO:0017307 False oculocutaneous albinism type 1 disorder of tyrosine metabolism UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018135 MONDO:0018910 False oculocutaneous albinism type 1 oculocutaneous albinism UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018136 MONDO:0018135 False minimal pigment oculocutaneous albinism type 1 oculocutaneous albinism type 1 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018137 MONDO:0018135 False temperature-sensitive oculocutaneous albinism type 1 oculocutaneous albinism type 1 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018141 MONDO:0009949 False pyruvate carboxylase deficiency, infantile form pyruvate carboxylase deficiency disease UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018142 MONDO:0009949 False pyruvate carboxylase deficiency, severe neonatal type pyruvate carboxylase deficiency disease UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018143 MONDO:0009949 False pyruvate carboxylase deficiency, benign type pyruvate carboxylase deficiency disease UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018145 MONDO:0002320 False congenital retinal arteriovenous communication congenital nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018145 MONDO:0005283 False congenital retinal arteriovenous communication retinal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018146 MONDO:0005328 False idiopathic macular telangiectasia type 1 eye disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -26870,35 +28495,19 @@ MONDO:0018147 MONDO:0700007 False idiopathic macular telangiectasia type 3 idiop MONDO:0018148 MONDO:0002311 False vasoproliferative tumor of retina retinal vascular disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018149 MONDO:0005328 False GM1 gangliosidosis eye disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0018149 MONDO:0005381 False GM1 gangliosidosis bone disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0018149 MONDO:0017719 False GM1 gangliosidosis gangliosidosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0018150 MONDO:0005328 False Gaucher disease eye disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0018151 MONDO:0016387 False coenzyme Q10 deficiency mitochondrial oxidative phosphorylation disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018151 MONDO:0020127 False coenzyme Q10 deficiency hereditary peripheral neuropathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018152 MONDO:0001280 False serpiginous choroiditis choroiditis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018153 MONDO:0002254 False Erdheim-Chester disease syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0018153 MONDO:0015531 False Erdheim-Chester disease non-Langerhans cell histiocytosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0018154 MONDO:0007481 False Madelung deformity Leri-Weill dyschondrosteosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018155 MONDO:0024257 False lateral sclerosis hereditary motor neuron disease UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018156 MONDO:0016902 False 3q26q27 microdeletion syndrome partial deletion of the long arm of chromosome 3 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018158 MONDO:0016387 False mitochondrial DNA depletion syndrome mitochondrial oxidative phosphorylation disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018159 MONDO:0016244 False atypical hemolytic-uremic syndrome with DGKE deficiency atypical hemolytic-uremic syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0018160 MONDO:0015356 False hereditary retinoblastoma hereditary neoplastic syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018161 MONDO:0008380 False non-hereditary retinoblastoma retinoblastoma UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018162 MONDO:0000421 False neurometabolic disorder due to serine deficiency inborn serine deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018163 MONDO:0019573 False autosomal recessive cutis laxa type 2A autosomal recessive cutis laxa type 2 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018163 MONDO:0100118 False autosomal recessive cutis laxa type 2A hereditary skin disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018163 MONDO:0800064 False autosomal recessive cutis laxa type 2A osteogenesis imperfecta and a reduction of bone mineral density. UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018164 MONDO:0005979 False arterial thoracic outlet syndrome thoracic outlet syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018165 MONDO:0005979 False venous thoracic outlet syndrome thoracic outlet syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018166 MONDO:0023369 False oral submucous fibrosis disorder of facial skeleton UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018167 MONDO:0019033 False primary essential cutis verticis gyrata primary cutis verticis gyrata UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018168 MONDO:0019033 False primary non-essential cutis verticis gyrata primary cutis verticis gyrata UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018169 MONDO:0007354 False morning glory syndrome coloboma of optic nerve UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018169 MONDO:0020249 False morning glory syndrome hereditary optic neuropathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018170 MONDO:0005377 False idiopathic nephrotic syndrome nephrotic syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018170 MONDO:0700007 False idiopathic nephrotic syndrome idiopathic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018171 MONDO:0018202 False malignant germ cell tumor of ovary gonadal germ cell tumor UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018171 MONDO:0018365 False malignant germ cell tumor of ovary malignant non-epithelial tumor of ovary UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018172 MONDO:0018365 False malignant sex cord stromal tumor of ovary malignant non-epithelial tumor of ovary UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018173 MONDO:0020683 False acute opioid poisoning acute disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018173 MONDO:0029000 False acute opioid poisoning poisoning UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018174 MONDO:0003847 False hereditary glaucoma hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -26906,274 +28515,119 @@ MONDO:0018174 MONDO:0005041 False hereditary glaucoma glaucoma UNSUPPORTED-MISSI MONDO:0018175 MONDO:0002242 False combined deficiency of factor V and factor VIII coagulation protein disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018175 MONDO:0002243 False combined deficiency of factor V and factor VIII hemorrhagic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018178 MONDO:0005020 False intestinal lymphangiectasia intestinal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018180 MONDO:0017592 False staphylococcal scarlet fever staphylococcal toxemia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018181 MONDO:0000315 False staphylococcal scalded skin syndrome commensal bacterial infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0018181 MONDO:0005545 False staphylococcal scalded skin syndrome staphylococcus aureus infection UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018181 MONDO:0017592 False staphylococcal scalded skin syndrome staphylococcal toxemia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018181 MONDO:0024295 False staphylococcal scalded skin syndrome skin disease caused by bacterial infection UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018182 MONDO:0017592 False bullous impetigo staphylococcal toxemia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018182 MONDO:0024295 False bullous impetigo skin disease caused by bacterial infection UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018183 MONDO:0005087 False staphylococcal necrotizing pneumonia respiratory system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018183 MONDO:0017592 False staphylococcal necrotizing pneumonia staphylococcal toxemia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018184 MONDO:0005017 False gastric linitis plastica diffuse gastric adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018189 MONDO:0019216 False autosomal recessive cerebellar ataxia - pyramidal signs - nystagmus - oculomotor apraxia syndrome inborn disorder of amino acid transport UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018189 MONDO:0020044 False autosomal recessive cerebellar ataxia - pyramidal signs - nystagmus - oculomotor apraxia syndrome autosomal recessive metabolic cerebellar ataxia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018190 MONDO:0019079 False autosomal dominant childhood-onset proximal spinal muscular atrophy proximal spinal muscular atrophy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018192 MONDO:0005447 False paratesticular adenocarcinoma testicular cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018197 MONDO:0015962 False mitochondrial DNA depletion syndrome, hepatocerebrorenal form inherited renal tubular disease UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018197 MONDO:0100512 False mitochondrial DNA depletion syndrome, hepatocerebrorenal form mitochondrial DNA depletion syndrome, hepatocerebral form UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018198 MONDO:0020072 False acute encephalopathy with biphasic seizures and late reduced diffusion childhood-onset epilepsy syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018198 MONDO:0020683 False acute encephalopathy with biphasic seizures and late reduced diffusion acute disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018199 MONDO:0020072 False new-onset refractory status epilepticus childhood-onset epilepsy syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018199 MONDO:0020073 False new-onset refractory status epilepticus adolescent-onset epilepsy syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018202 MONDO:0005040 False gonadal germ cell tumor germ cell tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018203 MONDO:0003847 False LMNA-related cardiocutaneous progeria syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018203 MONDO:0005267 False LMNA-related cardiocutaneous progeria syndrome heart disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018203 MONDO:0019303 False LMNA-related cardiocutaneous progeria syndrome premature aging syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018204 MONDO:0015159 False 20q11.2 microduplication syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018204 MONDO:0016970 False 20q11.2 microduplication syndrome partial trisomy of the long arm of chromosome 20 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018205 MONDO:0022756 False distal monosomy 1q chromosome 1q deletion UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018206 MONDO:0011577 False childhood-onset autosomal recessive myopathy with external ophthalmoplegia myopathy, proximal, and ophthalmoplegia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018206 MONDO:0016112 False childhood-onset autosomal recessive myopathy with external ophthalmoplegia hereditary inclusion-body myopathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018207 MONDO:0015159 False 2p13.2 microdeletion syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018207 MONDO:0016884 False 2p13.2 microdeletion syndrome partial deletion of the short arm of chromosome 2 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018208 MONDO:0018975 False neurofibromatosis type 1 due to NF1 mutation or intragenic deletion neurofibromatosis type 1 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018209 MONDO:0008752 False Alexander disease type I Alexander disease UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018210 MONDO:0008752 False Alexander disease type II Alexander disease UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018211 MONDO:0005071 False Balint syndrome nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018212 MONDO:0003847 False familial cervical artery dissection hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018212 MONDO:0006061 False familial cervical artery dissection cervical artery dissection UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018213 MONDO:0015364 False hereditary sensory and autonomic neuropathy type 1 hereditary sensory and autonomic neuropathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0018213 MONDO:0018117 False hereditary sensory and autonomic neuropathy type 1 disorder of phospholipids, sphingolipids and fatty acids biosynthesis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018214 MONDO:0015653 False generalized epilepsy with febrile seizures plus monogenic epilepsy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018215 MONDO:0005071 False paraneoplastic neurologic syndrome nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018215 MONDO:0021073 False paraneoplastic neurologic syndrome paraneoplastic syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018216 MONDO:0012496 False Koolen-de Vries syndrome due to 17q21.31 microdeletion syndrome Koolen-de Vries syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018216 MONDO:0016915 False Koolen-de Vries syndrome due to 17q21.31 microdeletion syndrome partial deletion of the long arm of chromosome 17 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018217 MONDO:0012496 False Koolen-de Vries syndrome due to a point mutation Koolen-de Vries syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018218 MONDO:0006025 False autosomal recessive cerebral atrophy autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018218 MONDO:0024237 False autosomal recessive cerebral atrophy inherited neurodegenerative disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018223 MONDO:0000621 False systemic Epstein-Barr virus-positive T-cell lymphoproliferative disease of childhood immune system cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0018223 MONDO:0017343 False systemic Epstein-Barr virus-positive T-cell lymphoproliferative disease of childhood Epstein-Barr virus-associated malignant lymphoproliferative disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018224 MONDO:0000430 False hydroa vacciniforme-like lymphoma mature T-cell and NK-cell non-Hodgkin lymphoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018224 MONDO:0017343 False hydroa vacciniforme-like lymphoma Epstein-Barr virus-associated malignant lymphoproliferative disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018226 MONDO:0020065 False infantile epileptic-dyskinetic encephalopathy combined dystonia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018227 MONDO:0015491 False hypocomplementemic urticarial vasculitis immune complex mediated vasculitis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018228 MONDO:0003847 False bipartite talus hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018228 MONDO:0018234 False bipartite talus dysostosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018229 MONDO:0019810 False Stevens-Johnson syndrome toxic epidermal necrolysis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018229 MONDO:0002254 False Stevens-Johnson syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0018230 MONDO:0003847 False skeletal dysplasia hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018230 MONDO:0005381 False skeletal dysplasia bone disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018233 MONDO:0019690 False otopalatodigital syndrome spectrum disorder filamin-related bone disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018234 MONDO:0005497 False dysostosis bone development disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0018237 MONDO:0003847 False acrofacial dysostosis hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0018237 MONDO:0019054 False acrofacial dysostosis congenital limb malformation UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018240 MONDO:0018230 False TRPV4-related bone disorder skeletal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018242 MONDO:0000569 False autoimmune hypoparathyroidism autoimmune disorder of endocrine system UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018242 MONDO:0001220 False autoimmune hypoparathyroidism hypoparathyroidism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018243 MONDO:0005395 False intellectual disability-hyperkinetic movement-truncal ataxia syndrome movement disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018244 MONDO:0019182 False obesity due to SIM1 deficiency inherited obesity UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018245 MONDO:0015583 False 2p21 microdeletion syndrome without cystinuria 2p21 microdeletion syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018247 MONDO:0002254 False CADDS syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018247 MONDO:0015327 False CADDS developmental anomaly of metabolic origin UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018247 MONDO:0019046 False CADDS leukodystrophy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018247 MONDO:0019053 False CADDS peroxisomal disease UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018248 MONDO:0015159 False intellectual disability-seizures-macrocephaly-obesity syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018249 MONDO:0002254 False finger hyperphalangy - toe anomalies - severe pectus excavatum syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018250 MONDO:0017666 False diffuse palmoplantar keratoderma with painful fissures diffuse palmoplantar keratoderma UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018252 MONDO:0017672 False focal palmoplantar keratoderma with joint keratoses focal palmoplantar keratoderma UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018253 MONDO:0015159 False intellectual disability-facial dysmorphism-hand anomalies syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018254 MONDO:0100510 False spondyloepimetaphyseal dysplasia, Isidor type spondyloepimetaphyseal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018255 MONDO:0016763 False spondylometaphyseal dysplasia, Czarny-Ratajczak type spondylometaphyseal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018256 MONDO:0018874 False acute myeloid leukemia with t(8;16)(p11;p13) translocation acute myeloid leukemia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018257 MONDO:0003847 False familial syringomyelia hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018257 MONDO:0020508 False familial syringomyelia primary syringomyelia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018258 MONDO:0005073 False Angora hair nevus melanocytic nevus UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018259 MONDO:0005073 False didymosis aplasticosebacea melanocytic nevus UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018260 MONDO:0005073 False scalp syndrome melanocytic nevus UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018261 MONDO:0005073 False Nevada syndrome melanocytic nevus UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018263 MONDO:0016677 False fetal carbamazepine syndrome toxic or drug-related embryofetopathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018266 MONDO:0002254 False ataxia - telangiectasia variant syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018266 MONDO:0020065 False ataxia - telangiectasia variant combined dystonia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018268 MONDO:0020117 False Medich giant platelet syndrome alpha granule disease UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018269 MONDO:0020117 False white platelet syndrome alpha granule disease UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018273 MONDO:0015159 False XYLT1-congenital disorder of glycosylation multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018273 MONDO:0015286 False XYLT1-congenital disorder of glycosylation congenital disorder of glycosylation UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018273 MONDO:0015327 False XYLT1-congenital disorder of glycosylation developmental anomaly of metabolic origin UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018274 MONDO:0006025 False GM3 synthase deficiency autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0018274 MONDO:0017748 False GM3 synthase deficiency inborn disorder of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018274 MONDO:0018117 False GM3 synthase deficiency disorder of phospholipids, sphingolipids and fatty acids biosynthesis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018276 MONDO:0019950 False muscular dystrophy-dystroglycanopathy congenital muscular dystrophy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0018278 MONDO:0015286 False congenital muscular dystrophy with intellectual disability congenital disorder of glycosylation UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018278 MONDO:0018276 False congenital muscular dystrophy with intellectual disability muscular dystrophy-dystroglycanopathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018280 MONDO:0018276 False muscle-eye-brain disease with bilateral multicystic leucodystrophy muscular dystrophy-dystroglycanopathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018280 MONDO:0018869 False muscle-eye-brain disease with bilateral multicystic leucodystrophy cobblestone lissencephaly UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018281 MONDO:0019950 False congenital muscular dystrophy with hyperlaxity congenital muscular dystrophy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018282 MONDO:0016139 False qualitative or quantitative defects of alpha-dystroglycan qualitative or quantitative protein defects in neuromuscular diseases UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018298 MONDO:0019707 False multicentric osteolysis-nodulosis-arthropathy spectrum primary osteolysis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018301 MONDO:0003900 False interstitial cystitis connective tissue disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0018302 MONDO:0005093 False acquired kinky hair syndrome skin disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018304 MONDO:0019751 False Schnitzler syndrome autoinflammatory syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018305 MONDO:0005910 False chronic granulomatous disease phagocyte bactericidal dysfunction UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0018305 MONDO:0021166 False chronic granulomatous disease inflammatory disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018305 MONDO:0024626 False chronic granulomatous disease defective phagocytic cell engulfment UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018306 MONDO:0017305 False Griscelli syndrome syndromic oculocutaneous albinism UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018307 MONDO:0002279 False neurodegeneration with brain iron accumulation iron metabolism disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0018307 MONDO:0002283 False neurodegeneration with brain iron accumulation neuroaxonal dystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0018307 MONDO:0005395 False neurodegeneration with brain iron accumulation movement disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0018307 MONDO:0015547 False neurodegeneration with brain iron accumulation hereditary dementia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018307 MONDO:0019052 False neurodegeneration with brain iron accumulation inborn errors of metabolism UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0018307 MONDO:0024237 False neurodegeneration with brain iron accumulation inherited neurodegenerative disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018308 MONDO:0024477 False liver mesenchymal hamartoma liver and intrahepatic bile duct neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018308 MONDO:0024478 False liver mesenchymal hamartoma mesenchymal hamartoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018309 MONDO:0003847 False Hirschsprung disease hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0018309 MONDO:0021189 False Hirschsprung disease intestinal motility disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018309 MONDO:0021635 False Hirschsprung disease neurocristopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018310 MONDO:0002637 False Langerhans cell histiocytosis histiocytosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0018310 MONDO:0004805 False Langerhans cell histiocytosis leukocyte disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0018310 MONDO:0020082 False Langerhans cell histiocytosis dendritic cell tumor UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018310 MONDO:0024627 False Langerhans cell histiocytosis phagocytic cell dysfunction UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018311 MONDO:0019289 False acromelanosis hyperpigmentation of the skin UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018312 MONDO:0000308 False histoplasmosis primary systemic mycosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0018314 MONDO:0015653 False infantile-onset mesial temporal lobe epilepsy with severe cognitive regression monogenic epilepsy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018314 MONDO:0020071 False infantile-onset mesial temporal lobe epilepsy with severe cognitive regression infantile epilepsy syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018315 MONDO:0005298 False X-linked osteoporosis with fractures osteoporosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018316 MONDO:0024237 False fatal post-viral neurodegenerative disorder inherited neurodegenerative disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018317 MONDO:0002254 False growth retardation-mild developmental delay-chronic hepatitis syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018317 MONDO:0003847 False growth retardation-mild developmental delay-chronic hepatitis syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018317 MONDO:0004335 False growth retardation-mild developmental delay-chronic hepatitis syndrome digestive system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018319 MONDO:0020127 False familial episodic pain syndrome hereditary peripheral neuropathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018319 MONDO:0021667 False familial episodic pain syndrome neuralgia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018320 MONDO:0002254 False primary microcephaly-mild intellectual disability-young-onset diabetes syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018321 MONDO:0021095 False atypical juvenile parkinsonism parkinsonian disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018322 MONDO:0010327 False HSD10 disease, infantile type HSD10 mitochondrial disease UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018323 MONDO:0010327 False HSD10 disease, neonatal type HSD10 mitochondrial disease UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018324 MONDO:0009688 False adult-onset myasthenia gravis myasthenia gravis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018325 MONDO:0009688 False juvenile myasthenia gravis myasthenia gravis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018326 MONDO:0018356 False transient neonatal myasthenia gravis secondary neonatal autoimmune disease UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018327 MONDO:0006424 False glomus tumor soft tissue neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018328 MONDO:0005439 False homozygous familial hypercholesterolemia familial hypercholesterolemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018330 MONDO:0005007 False mucinous adenocarcinoma of the appendix colon mucinous adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018332 MONDO:0009282 False multiple acyl-CoA dehydrogenase deficiency, severe neonatal type multiple acyl-CoA dehydrogenase deficiency UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018333 MONDO:0009282 False multiple acyl-CoA dehydrogenase deficiency, mild type multiple acyl-CoA dehydrogenase deficiency UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018334 MONDO:0001292 False chronic hiccup autonomic nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018338 MONDO:0015977 False activated PI3K-delta syndrome agammaglobulinemia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018339 MONDO:0003847 False PrP systemic amyloidosis hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018339 MONDO:0005429 False PrP systemic amyloidosis prion disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018341 MONDO:0000508 False 3q27.3 microdeletion syndrome syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018341 MONDO:0000761 False 3q27.3 microdeletion syndrome syndrome caused by partial chromosomal deletion UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018341 MONDO:0002320 False 3q27.3 microdeletion syndrome congenital nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018341 MONDO:0015159 False 3q27.3 microdeletion syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018342 MONDO:0015369 False Joubert syndrome with Jeune asphyxiating thoracic dystrophy Joubert syndrome and related disorders UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018342 MONDO:0015461 False Joubert syndrome with Jeune asphyxiating thoracic dystrophy short rib-polydactyly syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018343 MONDO:0000995 False periodic paralysis with later-onset distal motor neuropathy familial periodic paralysis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018343 MONDO:0016387 False periodic paralysis with later-onset distal motor neuropathy mitochondrial oxidative phosphorylation disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018343 MONDO:0019056 False periodic paralysis with later-onset distal motor neuropathy neuromuscular disease UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018346 MONDO:0002254 False ferro-cerebro-cutaneous syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018346 MONDO:0019052 False ferro-cerebro-cutaneous syndrome inborn errors of metabolism UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018346 MONDO:0024237 False ferro-cerebro-cutaneous syndrome inherited neurodegenerative disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018347 MONDO:0002254 False severe intellectual disability-progressive postnatal microcephaly- midline stereotypic hand movements syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018349 MONDO:0017740 False MAN1B1-congenital disorder of glycosylation disorder of protein N-glycosylation UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018353 MONDO:0005020 False refractory celiac disease intestinal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018354 MONDO:0002320 False Prader-Willi-like syndrome congenital nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018354 MONDO:0015160 False Prader-Willi-like syndrome multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018354 MONDO:0015770 False Prader-Willi-like syndrome congenital hypogonadotropic hypogonadism UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018355 MONDO:0018354 False SIM1-related Prader-Willi-like syndrome Prader-Willi-like syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018356 MONDO:0007179 False secondary neonatal autoimmune disease autoimmune disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018357 MONDO:0018356 False neonatal antiphospholipid syndrome secondary neonatal autoimmune disease UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018357 MONDO:0021008 False neonatal antiphospholipid syndrome secondary antiphospholipid syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018358 MONDO:0018356 False neonatal autoimmune hemolytic anemia secondary neonatal autoimmune disease UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018358 MONDO:0020108 False neonatal autoimmune hemolytic anemia autoimmune hemolytic anemia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018359 MONDO:0000589 False neonatal dermatomyositis autoimmune disorder of musculoskeletal system UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018359 MONDO:0016367 False neonatal dermatomyositis dermatomyositis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018359 MONDO:0018356 False neonatal dermatomyositis secondary neonatal autoimmune disease UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018360 MONDO:0007915 False neonatal lupus erythematosus systemic lupus erythematosus UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018360 MONDO:0018356 False neonatal lupus erythematosus secondary neonatal autoimmune disease UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018361 MONDO:0018356 False neonatal scleroderma secondary neonatal autoimmune disease UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018361 MONDO:0019340 False neonatal scleroderma scleroderma UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018362 MONDO:0005071 False persistent idiopathic facial pain nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018362 MONDO:0700007 False persistent idiopathic facial pain idiopathic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018363 MONDO:0019287 False focal facial dermal dysplasia ectodermal dysplasia syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING -MONDO:0018364 MONDO:0004993 False malignant epithelial tumor of ovary carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0018365 MONDO:0008170 False malignant non-epithelial tumor of ovary ovarian cancer UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018368 MONDO:0005211 False primary peritoneal serous/papillary carcinoma ovarian serous adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0018369 MONDO:0003514 False immature ovarian teratoma malignant teratoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0018369 MONDO:0016096 False immature ovarian teratoma malignant non-dysgerminomatous germ cell tumor of ovary UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018370 MONDO:0016108 False KLHL9-related early-onset distal myopathy autosomal dominant distal myopathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018371 MONDO:0018949 False nebulin-related early-onset distal myopathy distal myopathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018374 MONDO:0018373 False secondary avascular necrosis avascular necrosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018375 MONDO:0018374 False traumatic avascular necrosis secondary avascular necrosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018376 MONDO:0018374 False secondary non-traumatic avascular necrosis secondary avascular necrosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018378 MONDO:0018374 False osteonecrosis of the jaw secondary avascular necrosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018379 MONDO:0018373 False primary avascular necrosis avascular necrosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018380 MONDO:0018379 False idiopathic avascular necrosis primary avascular necrosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018380 MONDO:0700007 False idiopathic avascular necrosis idiopathic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018381 MONDO:0005380 False osteochondrosis osteonecrosis UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0018382 MONDO:0005380 False epiphysiolysis of the hip osteonecrosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018383 MONDO:0003847 False osteonecrosis of genetic origin hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018383 MONDO:0005380 False osteonecrosis of genetic origin osteonecrosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018394 MONDO:0005372 False male infertility with teratozoospermia due to single gene mutation male infertility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018408 MONDO:0044346 False cystic echinococcosis echinococcus granulosus infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018416 MONDO:0015150 False autosomal recessive spastic paraplegia type 59 complex hereditary spastic paraplegia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018417 MONDO:0015150 False autosomal recessive spastic paraplegia type 60 complex hereditary spastic paraplegia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018418 MONDO:0015150 False autosomal recessive spastic paraplegia type 66 complex hereditary spastic paraplegia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018419 MONDO:0015150 False autosomal recessive spastic paraplegia type 67 complex hereditary spastic paraplegia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018420 MONDO:0015150 False autosomal recessive spastic paraplegia type 68 complex hereditary spastic paraplegia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018421 MONDO:0015150 False autosomal recessive spastic paraplegia type 69 complex hereditary spastic paraplegia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018422 MONDO:0015150 False autosomal recessive spastic paraplegia type 70 complex hereditary spastic paraplegia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018423 MONDO:0015149 False autosomal recessive spastic paraplegia type 71 pure hereditary spastic paraplegia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018424 MONDO:0004069 False inherited lipoic acid biosynthesis defect inborn mitochondrial metabolism disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018424 MONDO:0037858 False inherited lipoic acid biosynthesis defect inherited fatty acid metabolism disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018424 MONDO:0045022 False inherited lipoic acid biosynthesis defect disorder of organic acid metabolism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018424 MONDO:0056803 False inherited lipoic acid biosynthesis defect sulfur metabolism disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018425 MONDO:0005395 False Huntington disease-like syndrome due to C9ORF72 expansions movement disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018425 MONDO:0015548 False Huntington disease-like syndrome due to C9ORF72 expansions Huntington disease-like syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018426 MONDO:0016362 False AXIN2-related attenuated familial adenomatous polyposis attenuated familial adenomatous polyposis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018428 MONDO:0000508 False 9q31.1q31.3 microdeletion syndrome syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018428 MONDO:0002320 False 9q31.1q31.3 microdeletion syndrome congenital nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018428 MONDO:0015159 False 9q31.1q31.3 microdeletion syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018428 MONDO:0016908 False 9q31.1q31.3 microdeletion syndrome partial monosomy of the long arm of chromosome 9 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018429 MONDO:0015159 False 14q24.1q24.3 microdeletion syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018429 MONDO:0016912 False 14q24.1q24.3 microdeletion syndrome partial deletion of the long arm of chromosome 14 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018430 MONDO:0020022 False partial corpus callosum agenesis-cerebellar vermis hypoplasia with posterior fossa cysts syndrome central nervous system malformation UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018431 MONDO:0015364 False cold-induced sweating syndrome - hyperthermia spectrum hereditary sensory and autonomic neuropathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018432 MONDO:0002523 False lichen myxedematosus cutaneous mucinosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018432 MONDO:0021154 False lichen myxedematosus dermis disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018433 MONDO:0018874 False acute myeloid leukemia with t(6;9)(p23;q34) acute myeloid leukemia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018434 MONDO:0018874 False acute myeloid leukemia with t(9;11)(p22;q23) acute myeloid leukemia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018435 MONDO:0018874 False acute myeloid leukemia with inv3(p21;q26.2) or t(3;3)(p21;q26.2) acute myeloid leukemia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018436 MONDO:0018874 False megakaryoblastic acute myeloid leukemia with t(1;22)(p13;q13) acute myeloid leukemia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018437 MONDO:0018874 False acute myeloid leukemia with NPM1 somatic mutations acute myeloid leukemia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018438 MONDO:0005020 False eosinophilic gastrointestinal disease intestinal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018439 MONDO:0000702 False eosinophilic colitis microscopic colitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018439 MONDO:0016129 False eosinophilic colitis eosinophilic gastroenteritis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018440 MONDO:0006025 False autosomal recessive distal renal tubular acidosis autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018440 MONDO:0015827 False autosomal recessive distal renal tubular acidosis distal renal tubular acidosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018442 MONDO:0016677 False acitretin/etretinate embryopathy toxic or drug-related embryofetopathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018443 MONDO:0015159 False FBLN1-related developmental delay-central nervous system anomaly-syndactyly syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018445 MONDO:0003847 False global developmental delay - lung cysts - overgrowth - Wilms tumor syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018445 MONDO:0019716 False global developmental delay - lung cysts - overgrowth - Wilms tumor syndrome overgrowth syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018446 MONDO:0015244 False autosomal recessive cerebellar ataxia - epilepsy - intellectual disability syndrome autosomal recessive cerebellar ataxia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018446 MONDO:0015653 False autosomal recessive cerebellar ataxia - epilepsy - intellectual disability syndrome monogenic epilepsy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018448 MONDO:0007763 False clear cell papillary renal cell carcinoma nonpapillary renal cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018449 MONDO:0005086 False acquired cystic disease-associated renal cell carcinoma renal cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018450 MONDO:0001516 False spinal muscular atrophy with respiratory distress type 2 spinal muscular atrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018450 MONDO:0024257 False spinal muscular atrophy with respiratory distress type 2 hereditary motor neuron disease UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018453 MONDO:0002051 False familial atypical multiple mole melanoma syndrome integumentary system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018456 MONDO:0011429 False polyarticular juvenile idiopathic arthritis juvenile idiopathic arthritis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018458 MONDO:0001566 False familial hypocalciuric hypercalcemia hypercalcemia disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0018458 MONDO:0005151 False familial hypocalciuric hypercalcemia endocrine system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0018458 MONDO:0017014 False familial hypocalciuric hypercalcemia interstitial lung disease specific to childhood UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018458 MONDO:0019052 False familial hypocalciuric hypercalcemia inborn errors of metabolism UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0018459 MONDO:0010613 False isolated glycerol kinase deficiency inborn glycerol kinase deficiency UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018460 MONDO:0005283 False Eales disease retinal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018461 MONDO:0007113 False Angelman syndrome due to a point mutation Angelman syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018462 MONDO:0007113 False Angelman syndrome due to imprinting defect in 15q11-q13 Angelman syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018463 MONDO:0010395 False mild phosphoribosylpyrophosphate synthetase superactivity phosphoribosylpyrophosphate synthetase superactivity UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018464 MONDO:0010395 False severe phosphoribosylpyrophosphate synthetase superactivity phosphoribosylpyrophosphate synthetase superactivity UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018465 MONDO:0000569 False insulin autoimmune syndrome autoimmune disorder of endocrine system UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0018465 MONDO:0005803 False insulin autoimmune syndrome hyperinsulinemic hypoglycemia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0018467 MONDO:0019216 False nephropathic infantile cystinosis inborn disorder of amino acid transport UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018467 MONDO:0100151 False nephropathic infantile cystinosis nephropathic cystinosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018468 MONDO:0018438 False proton-pump inhibitor-responsive esophageal eosinophilia eosinophilic gastrointestinal disease UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018469 MONDO:0005275 False pulmonary non-tuberculous mycobacterial infection lung disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018469 MONDO:0020590 False pulmonary non-tuberculous mycobacterial infection mycobacterial infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018469 MONDO:0024355 False pulmonary non-tuberculous mycobacterial infection respiratory tract infectious disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -27181,40 +28635,16 @@ MONDO:0018470 MONDO:0021147 False renal agenesis disorder of development or morp MONDO:0018470 MONDO:0100191 False renal agenesis inherited kidney disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018471 MONDO:0002527 False generalized eruptive keratoacanthoma keratoacanthoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018472 MONDO:0008593 False familial isolated trichomegaly trichomegaly UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018473 MONDO:0001336 False hyperlipoproteinemia type 3 familial hyperlipidemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0018474 MONDO:0015159 False 13q12.3 microdeletion syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018474 MONDO:0016911 False 13q12.3 microdeletion syndrome partial deletion of the long arm of chromosome 13 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018474 MONDO:0019268 False 13q12.3 microdeletion syndrome epidermal disease UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018475 MONDO:0015547 False PRKAR1B-related neurodegenerative dementia with intermediate filaments hereditary dementia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018475 MONDO:0024237 False PRKAR1B-related neurodegenerative dementia with intermediate filaments inherited neurodegenerative disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018476 MONDO:0002254 False dystonia-aphonia syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018476 MONDO:0020065 False dystonia-aphonia syndrome combined dystonia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018477 MONDO:0005560 False bilirubin encephalopathy brain disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0018477 MONDO:0017755 False bilirubin encephalopathy inborn disorder of bilirubin metabolism UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018479 MONDO:0005523 False congenital adrenal hyperplasia steroid inherited metabolic disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0018479 MONDO:0015129 False congenital adrenal hyperplasia chronic primary adrenal insufficiency UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0018479 MONDO:0015514 False congenital adrenal hyperplasia hereditary endocrine growth disease UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018479 MONDO:0015898 False congenital adrenal hyperplasia adrenogenital syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018480 MONDO:0019086 False carcinoma of esophagus, salivary gland type carcinoma of esophagus UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018481 MONDO:0005580 False undifferentiated carcinoma of esophagus esophageal squamous cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018483 MONDO:0001437 False secondary pulmonary alveolar proteinosis pulmonary alveolar proteinosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018484 MONDO:0024623 False semicircular canal dehiscence syndrome otorhinolaryngologic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018485 MONDO:0009290 False glycogen storage disease due to acid maltase deficiency, late-onset glycogen storage disease II UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018486 MONDO:0005328 False visual snow syndrome eye disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018487 MONDO:0028226 False autosomal recessive severe congenital neutropenia due to CXCR2 deficiency autosomal recessive severe congenital neutropenia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018489 MONDO:0000568 False autoimmune encephalopathy with parasomnia and obstructive sleep apnea autoimmune disorder of central nervous system UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018489 MONDO:0003406 False autoimmune encephalopathy with parasomnia and obstructive sleep apnea sleep-wake disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018489 MONDO:0005560 False autoimmune encephalopathy with parasomnia and obstructive sleep apnea brain disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018490 MONDO:0015159 False cono-spondylar dysplasia multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018490 MONDO:0016761 False cono-spondylar dysplasia spondyloepiphyseal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018491 MONDO:0018162 False 3-phosphoglycerate dehydrogenase deficiency neurometabolic disorder due to serine deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018493 MONDO:0003847 False malignant hyperthermia of anesthesia hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0018493 MONDO:0019119 False malignant hyperthermia of anesthesia muscular channelopathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018494 MONDO:0015159 False microcephaly-short stature-intellectual disability-facial dysmorphism syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018495 MONDO:0019118 False X-linked intellectual disability-limb spasticity-retinal dystrophy-diabetes insipidus syndrome inherited retinal dystrophy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018495 MONDO:0019236 False X-linked intellectual disability-limb spasticity-retinal dystrophy-diabetes insipidus syndrome inborn disorder of purine metabolism UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018498 MONDO:0018089 False double outlet right ventricle with subaortic or doubly committed ventricular septal defect double outlet right ventricle UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018499 MONDO:0018089 False double outlet right ventricle with atrioventricular septal defect, pulmonary stenosis, heterotaxy double outlet right ventricle UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018500 MONDO:0005135 False cutaneous larva migrans parasitic infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018502 MONDO:0003847 False hereditary gastric cancer hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018502 MONDO:0004950 False hereditary gastric cancer gastric carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -27228,89 +28658,48 @@ MONDO:0018511 MONDO:0024479 False epithelial tumor of the appendix epithelial tu MONDO:0018516 MONDO:0005626 False epithelial tumor of anal canal epithelial neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018516 MONDO:0021118 False epithelial tumor of anal canal intestinal neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018516 MONDO:0024634 False epithelial tumor of anal canal large intestine disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018521 MONDO:0005096 False squamous cell carcinoma of pancreas squamous cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0018521 MONDO:0005192 False squamous cell carcinoma of pancreas exocrine pancreatic carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0018523 MONDO:0002809 False pancreatic mucinous cystadenoma pancreatic cystadenoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0018523 MONDO:0005192 False pancreatic mucinous cystadenoma exocrine pancreatic carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0018523 MONDO:0006859 False pancreatic mucinous cystadenoma mucinous cystadenoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018523 MONDO:0020596 False pancreatic mucinous cystadenoma mucin-producing carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018525 MONDO:0005192 False solid pseudopapillary carcinoma of pancreas exocrine pancreatic carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0018528 MONDO:0100150 False congenital myopathy with myasthenic-like onset RYR1-related myopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018533 MONDO:0005617 False undifferentiated carcinoma of liver and intrahepatic biliary tract undifferentiated carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018533 MONDO:0018531 False undifferentiated carcinoma of liver and intrahepatic biliary tract carcinoma of liver and intrahepatic biliary tract UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018534 MONDO:0005096 False squamous cell carcinoma of liver and intrahepatic biliary tract squamous cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018534 MONDO:0018531 False squamous cell carcinoma of liver and intrahepatic biliary tract carcinoma of liver and intrahepatic biliary tract UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018535 MONDO:0003060 False biliary cystadenocarcinoma biliary tract cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018535 MONDO:0005596 False biliary cystadenocarcinoma cystadenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018535 MONDO:0018531 False biliary cystadenocarcinoma carcinoma of liver and intrahepatic biliary tract UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018536 MONDO:0002665 False adenocarcinoma of gallbladder and extrahepatic biliary tract extrahepatic bile duct adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018536 MONDO:0018918 False adenocarcinoma of gallbladder and extrahepatic biliary tract carcinoma of gallbladder and extrahepatic biliary tract UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018537 MONDO:0006203 False squamous cell carcinoma of gallbladder and extrahepatic biliary tract extrahepatic bile duct squamous cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018537 MONDO:0018918 False squamous cell carcinoma of gallbladder and extrahepatic biliary tract carcinoma of gallbladder and extrahepatic biliary tract UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018540 MONDO:0019751 False PFAPA syndrome autoinflammatory syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018541 MONDO:0015900 False familial hypoaldosteronism hypoaldosteronism disease UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018542 MONDO:0003847 False severe congenital neutropenia hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0018543 MONDO:0000426 False autosomal dominant hypocalcemia autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0018543 MONDO:0005557 False autosomal dominant hypocalcemia calcium metabolic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0018543 MONDO:0016390 False autosomal dominant hypocalcemia familial hypoparathyroidism UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS -MONDO:0018544 MONDO:0000425 False adrenoleukodystrophy X-linked disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0018544 MONDO:0005495 False adrenoleukodystrophy adrenal gland disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0018544 MONDO:0015547 False adrenoleukodystrophy hereditary dementia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018544 MONDO:0100372 False adrenoleukodystrophy disorder of peroxisomal transporter UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018546 MONDO:0005071 False serotonin syndrome nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018547 MONDO:0020683 False acute tricyclic antidepressant poisoning acute disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018547 MONDO:0029000 False acute tricyclic antidepressant poisoning poisoning UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018548 MONDO:0020683 False acute poisoning by drugs with membrane-stabilizing effect acute disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018548 MONDO:0029000 False acute poisoning by drugs with membrane-stabilizing effect poisoning UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018551 MONDO:0018565 False patent urachus congenital urachal anomaly UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018552 MONDO:0018565 False urachal sinus congenital urachal anomaly UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018553 MONDO:0018565 False urachal diverticulum congenital urachal anomaly UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018554 MONDO:0005087 False pulmonary veno-occlusive disease and/or pulmonary capillary haemangiomatosis respiratory system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018554 MONDO:0015924 False pulmonary veno-occlusive disease and/or pulmonary capillary haemangiomatosis pulmonary arterial hypertension UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018555 MONDO:0003847 False hypogonadotropic hypogonadism hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0018556 MONDO:0018215 False Lambert-Eaton myasthenic syndrome paraneoplastic neurologic syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018559 MONDO:0005240 False fetal lower urinary tract obstruction kidney disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018559 MONDO:0019356 False fetal lower urinary tract obstruction urogenital tract malformation UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018561 MONDO:0000088 False precocious puberty in female precocious puberty UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018563 MONDO:0018230 False adactyly of foot skeletal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018563 MONDO:0018234 False adactyly of foot dysostosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018564 MONDO:0016885 False 3p25.3 microdeletion syndrome partial deletion of the short arm of chromosome 3 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018565 MONDO:0002118 False congenital urachal anomaly urinary system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018566 MONDO:0018230 False short stature-advanced bone age-early-onset osteoarthritis syndrome skeletal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018567 MONDO:0011468 False autosomal dominant Charcot-Marie-Tooth disease type 2 due to TFG mutation hereditary motor and sensory neuropathy, Okinawa type UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018567 MONDO:0018993 False autosomal dominant Charcot-Marie-Tooth disease type 2 due to TFG mutation Charcot-Marie-Tooth disease type 2 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018569 MONDO:0002254 False X-linked microcephaly-growth retardation-prognathism-cryptorchidism syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018570 MONDO:0000426 False hypophosphatasia autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0018570 MONDO:0015327 False hypophosphatasia developmental anomaly of metabolic origin UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018570 MONDO:0019052 False hypophosphatasia inborn errors of metabolism UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0018571 MONDO:0015160 False contractures-developmental delay-Pierre Robin syndrome multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018571 MONDO:0016904 False contractures-developmental delay-Pierre Robin syndrome partial deletion of the long arm of chromosome 5 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018572 MONDO:0002254 False severe intellectual disability-hypotonia-strabismus-coarse face-planovalgus syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018572 MONDO:0015159 False severe intellectual disability-hypotonia-strabismus-coarse face-planovalgus syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018573 MONDO:0002254 False intrauterine growth restriction-short stature-early adult-onset diabetes syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018576 MONDO:0016387 False non-progressive predominantly posterior cavitating leukoencephalopathy with peripheral neuropathy mitochondrial oxidative phosphorylation disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018576 MONDO:0019046 False non-progressive predominantly posterior cavitating leukoencephalopathy with peripheral neuropathy leukodystrophy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018576 MONDO:0020127 False non-progressive predominantly posterior cavitating leukoencephalopathy with peripheral neuropathy hereditary peripheral neuropathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018577 MONDO:0002254 False pseudoxanthoma elasticum-like skin manifestations with retinitis pigmentosa syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018577 MONDO:0021154 False pseudoxanthoma elasticum-like skin manifestations with retinitis pigmentosa dermis disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018581 MONDO:0008491 False progressive encephalomyelitis with rigidity and myoclonus stiff-person syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018582 MONDO:0021040 False GCGR-related hyperglucagonemia pancreatic neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018583 MONDO:0005108 False human infection by orthopoxvirus viral infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018585 MONDO:0000473 False pediatric arterial ischemic stroke arterial disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018585 MONDO:0005098 False pediatric arterial ischemic stroke stroke disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018585 MONDO:0005299 False pediatric arterial ischemic stroke brain ischemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018586 MONDO:0019268 False zinc-responsive necrolytic acral erythema epidermal disease UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018587 MONDO:0015923 False non-recovering obstetric brachial plexus lesion acquired peripheral neuropathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018588 MONDO:0019065 False ALECT2 amyloidosis amyloidosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018589 MONDO:0019065 False AApoAIV amyloidosis amyloidosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0018590 MONDO:0019065 False ABeta2M amyloidosis amyloidosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0018591 MONDO:0018634 False ITM2B amyloidosis hereditary amyloidosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018591 MONDO:0024237 False ITM2B amyloidosis inherited neurodegenerative disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018592 MONDO:0018593 False cutaneous polyarteritis nodosa primary polyarteritis nodosa UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018593 MONDO:0019170 False primary polyarteritis nodosa polyarteritis nodosa UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018594 MONDO:0019170 False secondary polyarteritis nodosa polyarteritis nodosa UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018595 MONDO:0018593 False single-organ polyarteritis nodosa primary polyarteritis nodosa UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018596 MONDO:0018593 False systemic polyarteritis nodosa primary polyarteritis nodosa UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018597 MONDO:0005087 False plastic bronchitis respiratory system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018597 MONDO:0005833 False plastic bronchitis lymphatic system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018599 MONDO:0002320 False congenital oculomotor nerve palsy congenital nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -27321,99 +28710,60 @@ MONDO:0018601 MONDO:0003847 False autosomal dominant myopia-midfacial retrusion- MONDO:0018601 MONDO:0005381 False autosomal dominant myopia-midfacial retrusion-sensorineural hearing loss-rhizomelic dysplasia syndrome bone disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018602 MONDO:0005113 False necrotizing soft tissue infection bacterial infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018603 MONDO:0012580 False interstitial lung disease due to SP-C deficiency hereditary pulmonary alveolar proteinosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018605 MONDO:0019214 False disorders of pentose/polyol metabolism inborn carbohydrate metabolic disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018606 MONDO:0002135 False extensive peripapillary myelinated nerve fibers optic nerve disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018606 MONDO:0005328 False extensive peripapillary myelinated nerve fibers eye disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018607 MONDO:0021220 False combined hamartoma of the retina and retinal pigment epithelium eye neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018608 MONDO:0001292 False pure autonomic failure autonomic nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018608 MONDO:0007803 False pure autonomic failure multiple system atrophy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018610 MONDO:0020377 False early-onset posterior subcapsular cataract early-onset partial cataract UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018611 MONDO:0013411 False early-onset lamellar cataract cataract 16 multiple types UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018614 MONDO:0015653 False undetermined early-onset epileptic encephalopathy monogenic epilepsy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018614 MONDO:0019216 False undetermined early-onset epileptic encephalopathy inborn disorder of amino acid transport UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018614 MONDO:0020070 False undetermined early-onset epileptic encephalopathy neonatal epilepsy syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018614 MONDO:0020071 False undetermined early-onset epileptic encephalopathy infantile epilepsy syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018615 MONDO:0015530 False hemicrania continua trigeminal autonomic cephalalgia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018616 MONDO:0005283 False central serous chorioretinopathy retinal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018617 MONDO:0001292 False baroreflex failure autonomic nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018620 MONDO:0005071 False hypothalamic adipsic hypernatraemia syndrome nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018620 MONDO:0005151 False hypothalamic adipsic hypernatraemia syndrome endocrine system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018621 MONDO:0017594 False lymphoplasmacytic lymphoma without IgM production indolent B-cell non-Hodgkin lymphoma UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018623 MONDO:0005485 False postpartum psychosis psychotic disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018623 MONDO:0024575 False postpartum psychosis pregnancy disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018623 MONDO:0044013 False postpartum psychosis puerperal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018624 MONDO:0021146 False spontaneous intracranial hypotension headache disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018625 MONDO:0008491 False classic stiff person syndrome stiff-person syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018626 MONDO:0000827 False paratyphoid fever salmonellosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0018628 MONDO:0017341 False HIV-associated cancer virus associated tumor UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018628 MONDO:0024571 False HIV-associated cancer AIDS-related disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018629 MONDO:0008491 False focal stiff limb syndrome stiff-person syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018630 MONDO:0023113 False hereditary nonpolyposis colon cancer familial colorectal cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018631 MONDO:0003037 False Marie Unna hereditary hypotrichosis hypotrichosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018632 MONDO:0015159 False 11q22.2q22.3 microdeletion syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018632 MONDO:0016910 False 11q22.2q22.3 microdeletion syndrome partial deletion of the long arm of chromosome 11 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018633 MONDO:0015159 False 20q11.2 microdeletion syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018633 MONDO:0016918 False 20q11.2 microdeletion syndrome partial deletion of the long arm of chromosome 20 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018634 MONDO:0019052 False hereditary amyloidosis inborn errors of metabolism UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018635 MONDO:0005380 False idiopathic phalangeal acro-osteolysis osteonecrosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018634 MONDO:0019065 False hereditary amyloidosis amyloidosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018635 MONDO:0700007 False idiopathic phalangeal acro-osteolysis idiopathic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018636 MONDO:0021094 False autoimmune hemolytic anemia-autoimmune thrombocytopenia-primary immunodeficiency syndrome immunodeficiency disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018637 MONDO:0002254 False familial chylomicronemia syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0018638 MONDO:0006510 False pseudohypoaldosteronism renal tubular transport disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0018639 MONDO:0002254 False caudal regression-sirenomelia spectrum syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018639 MONDO:0019054 False caudal regression-sirenomelia spectrum congenital limb malformation UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018640 MONDO:0018882 False secondary vasculitis vasculitis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018642 MONDO:0018814 False NIK deficiency non-SCID combined immunodeficiency UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018643 MONDO:0020573 False susceptibility to localized juvenile periodontitis inherited disease susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018644 MONDO:0015091 False autosomal dominant complex spastic paraplegia type 9B autosomal dominant spastic paraplegia type 9 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018645 MONDO:0000569 False IgG4-related sclerosing cholangitis autoimmune disorder of endocrine system UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018645 MONDO:0000588 False IgG4-related sclerosing cholangitis autoimmune disorder of gastrointestinal tract UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018645 MONDO:0017287 False IgG4-related sclerosing cholangitis IgG4-related disease UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018645 MONDO:0018646 False IgG4-related sclerosing cholangitis sclerosing cholangitis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018647 MONDO:0018646 False secondary sclerosing cholangitis sclerosing cholangitis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018648 MONDO:0021192 False Keratocystic odontogenic tumor odontogenic neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018653 MONDO:0016362 False Polymerase proofreading-related adenomatous polyposis attenuated familial adenomatous polyposis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018654 MONDO:0016105 False idiopathic dropped head syndrome acquired skeletal muscle disease UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018654 MONDO:0700007 False idiopathic dropped head syndrome idiopathic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018655 MONDO:0021147 False hypomyelination-cerebellar atrophy-hypoplasia of the corpus callosum syndrome disorder of development or morphogenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018656 MONDO:0004884 False tremor-ataxia-central hypomyelination syndrome eye degenerative disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018656 MONDO:0024237 False tremor-ataxia-central hypomyelination syndrome inherited neurodegenerative disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018656 MONDO:0100309 False tremor-ataxia-central hypomyelination syndrome hereditary ataxia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018657 MONDO:0006025 False pigmentation defects-palmoplantar keratoderma-skin carcinoma syndrome autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018658 MONDO:0015159 False 19p13.3 microduplication syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018658 MONDO:0018659 False 19p13.3 microduplication syndrome partial duplication of the short arm of chromosome 19 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018659 MONDO:0016937 False partial duplication of the short arm of chromosome 19 partial duplication of chromosome 19 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018660 MONDO:0002242 False hemophilia coagulation protein disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018661 MONDO:0005763 False Zika virus infectious disease Flaviviridae infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018661 MONDO:0100120 False Zika virus infectious disease vector-borne disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018662 MONDO:0006025 False autosomal recessive brachyolmia autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018662 MONDO:0015262 False autosomal recessive brachyolmia brachyolmia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018663 MONDO:0016763 False regressive spondylometaphyseal dysplasia spondylometaphyseal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING -MONDO:0018664 MONDO:0019512 False ectopia cordis congenital heart malformation UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018666 MONDO:0007256 False hepatoblastoma hepatocellular carcinoma UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0018667 MONDO:0002037 False pleural empyema pleural disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0018668 MONDO:0002041 False scedosporiosis fungal infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018669 MONDO:0029000 False snakebite envenomation poisoning UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018670 MONDO:0010383 False symptomatic form of fragile X syndrome in female carrier fragile X syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018670 MONDO:0010706 False symptomatic form of fragile X syndrome in female carrier premature ovarian failure 1 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018671 MONDO:0005240 False IgG4-related kidney disease kidney disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018671 MONDO:0017287 False IgG4-related kidney disease IgG4-related disease UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018672 MONDO:0017287 False IgG4-related aortitis IgG4-related disease UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018673 MONDO:0017287 False IgG4-related pachymeningitis IgG4-related disease UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018673 MONDO:0021166 False IgG4-related pachymeningitis inflammatory disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018674 MONDO:0000587 False IgG4-related submandibular gland disease autoimmune disease of ear, nose and throat UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018674 MONDO:0017287 False IgG4-related submandibular gland disease IgG4-related disease UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018675 MONDO:0005328 False IgG4-related ophthalmic disorder eye disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018675 MONDO:0017287 False IgG4-related ophthalmic disorder IgG4-related disease UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018676 MONDO:0000587 False eosinophilic angiocentric fibrosis autoimmune disease of ear, nose and throat UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018676 MONDO:0017287 False eosinophilic angiocentric fibrosis IgG4-related disease UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018677 MONDO:0002254 False visceral heterotaxy syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0018677 MONDO:0003847 False visceral heterotaxy hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0018677 MONDO:0019512 False visceral heterotaxy congenital heart malformation UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018678 MONDO:0005570 False polyclonal hyperviscosity syndrome hematologic disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018679 MONDO:0005093 False primary cutaneous plasmacytosis skin disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018679 MONDO:0017287 False primary cutaneous plasmacytosis IgG4-related disease UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018680 MONDO:0017287 False cutaneous pseudolymphoma IgG4-related disease UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018680 MONDO:0005093 False cutaneous pseudolymphoma skin disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018681 MONDO:0002320 False neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-hip dysplasia syndrome congenital nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018681 MONDO:0015159 False neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-hip dysplasia syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018681 MONDO:0018234 False neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-hip dysplasia syndrome dysostosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018681 MONDO:0700092 False neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-hip dysplasia syndrome neurodevelopmental disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018682 MONDO:0002320 False congenital insensitivity to pain with severe intellectual disability congenital nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018682 MONDO:0003847 False congenital insensitivity to pain with severe intellectual disability hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -27421,101 +28771,60 @@ MONDO:0018684 MONDO:0005310 False idiopathic neonatal atrial flutter atrial flut MONDO:0018684 MONDO:0700007 False idiopathic neonatal atrial flutter idiopathic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018685 MONDO:0007263 False incessant infant ventricular tachycardia cardiac rhythm disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018686 MONDO:0005357 False acquired Creutzfeldt-Jakob disease Creutzfeldt Jacob disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018688 MONDO:0019337 False anti-p200 pemphigoid autoimmune bullous skin disease UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018687 MONDO:0004976 False progressive muscular atrophy amyotrophic lateral sclerosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0018689 MONDO:0004967 False plasma cell leukemia acute lymphoblastic leukemia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0018689 MONDO:0015759 False plasma cell leukemia B-cell non-Hodgkin lymphoma UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018692 MONDO:0005395 False variably protease-sensitive prionopathy movement disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018692 MONDO:0018926 False variably protease-sensitive prionopathy human prion disease UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018694 MONDO:0002567 False isolated tracheo-esophageal fistula tracheal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018694 MONDO:0003749 False isolated tracheo-esophageal fistula esophageal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018695 MONDO:0005812 False avian influenza influenza UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0018696 MONDO:0005395 False corticobasal syndrome movement disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018696 MONDO:0015547 False corticobasal syndrome hereditary dementia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018696 MONDO:0024237 False corticobasal syndrome inherited neurodegenerative disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018697 MONDO:0015159 False 1p35.2 microdeletion syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018697 MONDO:0016883 False 1p35.2 microdeletion syndrome partial deletion of the short arm of chromosome 1 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018698 MONDO:0003847 False hereditary neuroendocrine tumor of small intestine hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018698 MONDO:0018510 False hereditary neuroendocrine tumor of small intestine small intestine neuroendocrine neoplasm UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018702 MONDO:0007179 False Castleman-Kojima disease autoimmune disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018703 MONDO:0021147 False isolated splenogonadal fusion disorder of development or morphogenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018705 MONDO:0024237 False infantile-onset axonal motor and sensory neuropathy-optic atrophy-neurodegenerative syndrome inherited neurodegenerative disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018709 MONDO:0020119 False X-linked intellectual disability-hypotonia-movement disorder syndrome X-linked syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018710 MONDO:0014863 False megalencephaly-severe kyphoscoliosis-overgrowth syndrome macrocephaly, dysmorphic facies, and psychomotor retardation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018710 MONDO:0015159 False megalencephaly-severe kyphoscoliosis-overgrowth syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018710 MONDO:0019716 False megalencephaly-severe kyphoscoliosis-overgrowth syndrome overgrowth syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018711 MONDO:0015159 False intellectual disability-muscle weakness-short stature-facial dysmorphism syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018717 MONDO:0002013 False mixed cystic lymphatic malformation lymphangioma UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018724 MONDO:0002320 False X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome congenital nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018724 MONDO:0015159 False X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018724 MONDO:0016761 False X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome spondyloepiphyseal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018724 MONDO:0020022 False X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome central nervous system malformation UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018725 MONDO:0015159 False corpus callosum agenesis-macrocephaly-hypertelorism syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018733 MONDO:0013578 False intellectual disability syndrome due to a DYRK1A point mutation DYRK1A-related intellectual disability syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018735 MONDO:0002013 False multifocal lymphangioendotheliomatosis-thrombocytopenia syndrome lymphangioma UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018736 MONDO:0024296 False kaposiform lymphangiomatosis vascular neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018737 MONDO:8000010 False catastrophic antiphospholipid syndrome antiphospholipid syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018738 MONDO:0002513 False benign metanephric tumor kidney benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018739 MONDO:0001475 False neonatal alloimmune neutropenia neutropenia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018740 MONDO:0001117 False drug-induced methemoglobinemia methemoglobinemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018740 MONDO:0044349 False drug-induced methemoglobinemia acquired hemoglobinopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018741 MONDO:0029000 False paracetamol poisoning poisoning UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018742 MONDO:0015062 False familial gastric type 1 neuroendocrine tumor gastric neuroendocrine tumor, well differentiated, low or intermediate grade UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018744 MONDO:0100342 False oligodendroglial tumor malignant glioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018746 MONDO:0019337 False mucous membrane pemphigoid autoimmune bullous skin disease UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0018747 MONDO:0019337 False acquired epidermolysis bullosa autoimmune bullous skin disease UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0018748 MONDO:0019337 False linear IgA Dermatosis autoimmune bullous skin disease UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018749 MONDO:0017145 False hereditary persistence of fetal hemoglobin-beta-thalassemia syndrome beta-thalassemia and related diseases UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018751 MONDO:0003847 False hereditary otorhinolaryngologic disease hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018751 MONDO:0024623 False hereditary otorhinolaryngologic disease otorhinolaryngologic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018752 MONDO:0005071 False exercise-induced malignant hyperthermia nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018754 MONDO:0029000 False cyanide poisoning poisoning UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018755 MONDO:0029000 False scorpion envenomation poisoning UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018756 MONDO:0007179 False euthyroid Graves orbitopathy autoimmune disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0018757 MONDO:0024623 False supratip dysplasia otorhinolaryngologic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018759 MONDO:0016106 False childhood-onset progressive contractures-limb-girdle weakness-muscle dystrophy syndrome progressive muscular dystrophy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018760 MONDO:0015159 False DeSanto-Shinawi syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018761 MONDO:0000376 False SMARCA4-deficient sarcoma of thorax respiratory system cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0018761 MONDO:0018078 False SMARCA4-deficient sarcoma of thorax soft tissue sarcoma UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018761 MONDO:0020641 False SMARCA4-deficient sarcoma of thorax respiratory tract neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018762 MONDO:0019824 False non-acquired combined pituitary hormone deficiency non-acquired pituitary hormone deficiency UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018763 MONDO:0020022 False tubulinopathy-associated dysgyria central nervous system malformation UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018763 MONDO:0100153 False tubulinopathy-associated dysgyria tubulinopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018764 MONDO:0002254 False microcephalic primordial dwarfism due to RTTN deficiency syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018764 MONDO:0800063 False microcephalic primordial dwarfism due to RTTN deficiency primordial dwarfism and slender bone disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018765 MONDO:0005020 False cryptogenic multifocal ulcerous stenosing enteritis intestinal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018766 MONDO:0005020 False chronic enteropathy associated with SLCO2A1 gene intestinal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018767 MONDO:0011182 False severe primary trimethylaminuria trimethylaminuria UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018768 MONDO:0016168 False familial cold autoinflammatory syndrome cryopyrin-associated periodic syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018769 MONDO:0005707 False isosporiasis coccidiosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0018770 MONDO:0005308 False Jeune syndrome ciliopathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0018770 MONDO:0015461 False Jeune syndrome short rib-polydactyly syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018770 MONDO:0015962 False Jeune syndrome inherited renal tubular disease UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018772 MONDO:0005308 False Joubert syndrome ciliopathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0018772 MONDO:0021147 False Joubert syndrome disorder of development or morphogenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018773 MONDO:0002320 False autosomal dominant distal axonal motor neuropathy-myofibrillar myopathy syndrome congenital nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018773 MONDO:0015362 False autosomal dominant distal axonal motor neuropathy-myofibrillar myopathy syndrome neuronopathy, distal hereditary motor, autosomal dominant UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018773 MONDO:0018943 False autosomal dominant distal axonal motor neuropathy-myofibrillar myopathy syndrome myofibrillar myopathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018774 MONDO:0019270 False erythrokeratodermia-cardiomyopathy syndrome erythrokeratoderma UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018776 MONDO:0015358 False demyelinating hereditary motor and sensory neuropathy hereditary motor and sensory neuropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018776 MONDO:0015626 False demyelinating hereditary motor and sensory neuropathy Charcot-Marie-Tooth disease UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018777 MONDO:0019280 False autosomal dominant preaxial polydactyly-upperback hypertrichosis syndrome hypertrichosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018778 MONDO:0015626 False intermediate Charcot-Marie-Tooth disease Charcot-Marie-Tooth disease UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0018780 MONDO:0002254 False congenital generalized hypercontractile muscle stiffness syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018780 MONDO:0019952 False congenital generalized hypercontractile muscle stiffness syndrome congenital myopathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018780 MONDO:0021147 False congenital generalized hypercontractile muscle stiffness syndrome disorder of development or morphogenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018781 MONDO:0017666 False KID syndrome diffuse palmoplantar keratoderma UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018781 MONDO:0019287 False KID syndrome ectodermal dysplasia syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0018783 MONDO:0005554 False fibroblastic rheumatism rheumatic disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018784 MONDO:0005301 False pediatric multiple sclerosis multiple sclerosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018793 MONDO:0005473 False primary condylar hyperplasia temporomandibular joint disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018794 MONDO:0000009 False cytosolic phospholipase-A2 alpha deficiency associated bleeding disorder inherited bleeding disorder, platelet-type UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0018794 MONDO:0005020 False cytosolic phospholipase-A2 alpha deficiency associated bleeding disorder intestinal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018794 MONDO:0021181 False cytosolic phospholipase-A2 alpha deficiency associated bleeding disorder inherited blood coagulation disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018795 MONDO:0100241 False syndromic constitutional thrombocytopenia inherited thrombocytopenia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018801 MONDO:0003150 False congenital bilateral absence of vas deferens male reproductive system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0018801 MONDO:0003847 False congenital bilateral absence of vas deferens hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0018800 MONDO:0002254 False Kallmann syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0018801 MONDO:0021147 False congenital bilateral absence of vas deferens disorder of development or morphogenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018804 MONDO:0015762 False MYO5B-related progressive familial intrahepatic cholestasis progressive familial intrahepatic cholestasis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018805 MONDO:0002887 False bile duct cyst bile duct disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0018805 MONDO:0003847 False bile duct cyst hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0018805 MONDO:0005154 False bile duct cyst liver disorder UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0018806 MONDO:0004868 False primary intrahepatic lithiasis biliary tract disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -27526,331 +28835,198 @@ MONDO:0018808 MONDO:0003847 False Caroli syndrome hereditary disease UNSUPPORTED MONDO:0018808 MONDO:0004868 False Caroli syndrome biliary tract disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018809 MONDO:0002251 False idiopathic peliosis hepatis hepatitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018809 MONDO:0700007 False idiopathic peliosis hepatis idiopathic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018810 MONDO:0043009 False lethal hydranencephaly-diaphragmatic hernia syndrome hereditary lethal multiple congenital anomalies/dysmorphic syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018811 MONDO:0005385 False congenital portosystemic shunt vascular disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018811 MONDO:0021147 False congenital portosystemic shunt disorder of development or morphogenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018813 MONDO:0017595 False high grade B-cell lymphoma with MYC and/ or BCL2 and/or BCL6 rearrangement aggressive B-cell non-Hodgkin lymphoma UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018814 MONDO:0015131 False non-SCID combined immunodeficiency combined immunodeficiency UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018815 MONDO:0023603 False aneurysmal bone cyst hereditary disorder of connective tissue UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018816 MONDO:0003847 False isolated neonatal sclerosing cholangitis hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018816 MONDO:0018646 False isolated neonatal sclerosing cholangitis sclerosing cholangitis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018818 MONDO:0016218 False facial diplegia with paresthesias Guillain-Barre syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018820 MONDO:0024237 False recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome inherited neurodegenerative disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018821 MONDO:0002254 False X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018822 MONDO:0002320 False global developmental delay-visual anomalies-progressive cerebellar atrophy-truncal hypotonia syndrome congenital nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018822 MONDO:0005328 False global developmental delay-visual anomalies-progressive cerebellar atrophy-truncal hypotonia syndrome eye disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018822 MONDO:0015159 False global developmental delay-visual anomalies-progressive cerebellar atrophy-truncal hypotonia syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018822 MONDO:0020022 False global developmental delay-visual anomalies-progressive cerebellar atrophy-truncal hypotonia syndrome central nervous system malformation UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018823 MONDO:0002320 False X-linked intellectual disability-global development delay-facial dysmorphism-sacral caudal remnant syndrome congenital nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018823 MONDO:0015159 False X-linked intellectual disability-global development delay-facial dysmorphism-sacral caudal remnant syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018823 MONDO:0020119 False X-linked intellectual disability-global development delay-facial dysmorphism-sacral caudal remnant syndrome X-linked syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018824 MONDO:0002922 False pyoderma gangrenosum pyoderma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0018824 MONDO:0019751 False pyoderma gangrenosum autoinflammatory syndrome UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018825 MONDO:0015159 False PYCR2-related microcephaly-progressive leukoencephalopathy multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018826 MONDO:0006702 False Lewis-Sumner syndrome chronic inflammatory demyelinating polyradiculoneuropathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018827 MONDO:0019557 False familial chilblain lupus chilblain lupus UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018827 MONDO:0023603 False familial chilblain lupus hereditary disorder of connective tissue UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018827 MONDO:0100118 False familial chilblain lupus hereditary skin disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018828 MONDO:0002254 False pseudo-TORCH syndrome 2 syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018829 MONDO:0010011 False familial schizencephaly schizencephaly UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018829 MONDO:0800461 False familial schizencephaly COL4A1-related disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018830 MONDO:0002052 False Kimura disease lymphadenitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0018830 MONDO:0007179 False Kimura disease autoimmune disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0018832 MONDO:0011057 False HTRA1-related autosomal dominant cerebral small vessel disease cerebrovascular disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018835 MONDO:0005154 False nodular regenerative hyperplasia of the liver liver disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018835 MONDO:0100137 False nodular regenerative hyperplasia of the liver telomere syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018837 MONDO:0018640 False postinfectious vasculitis secondary vasculitis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018837 MONDO:0021669 False postinfectious vasculitis post-infectious disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018838 MONDO:0002320 False lissencephaly spectrum disorders congenital nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0018838 MONDO:0003847 False lissencephaly spectrum disorders hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0018838 MONDO:0021147 False lissencephaly spectrum disorders disorder of development or morphogenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018839 MONDO:0010011 False acquired schizencephaly schizencephaly UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018840 MONDO:0004868 False isolated congenital hepatic fibrosis biliary tract disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018840 MONDO:0007329 False isolated congenital hepatic fibrosis cirrhosis, familial UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018841 MONDO:0005523 False congenital bile acid synthesis defect steroid inherited metabolic disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0018842 MONDO:0015157 False primary effusion lymphoma human herpesvirus 8-related tumor UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018842 MONDO:0017343 False primary effusion lymphoma Epstein-Barr virus-associated malignant lymphoproliferative disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018844 MONDO:0018565 False urachal cyst congenital urachal anomaly UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018845 MONDO:0020122 False focal myositis acquired idiopathic inflammatory myopathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018846 MONDO:0020040 False penile agenesis 46,XY disorder of sex development UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018847 MONDO:0100298 False omphalomesenteric cyst abdominal wall malformation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018848 MONDO:0017287 False IgG4-related retroperitoneal fibrosis IgG4-related disease UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018849 MONDO:0006999 False dentinogenesis imperfecta tooth disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0018851 MONDO:0002527 False familial keratoacanthoma keratoacanthoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018851 MONDO:0100118 False familial keratoacanthoma hereditary skin disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018852 MONDO:0001703 False achromatopsia color vision disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0018852 MONDO:0005283 False achromatopsia retinal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0018853 MONDO:0017851 False transgrediens et progrediens palmoplantar keratoderma erythrokeratodermia variabilis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018854 MONDO:0000809 False acquired purpura fulminans purpura fulminans UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018854 MONDO:0000831 False acquired purpura fulminans thrombotic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018855 MONDO:0019268 False keratosis pilaris atrophicans epidermal disease UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018855 MONDO:0021036 False keratosis pilaris atrophicans keratosis pilaris UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018855 MONDO:0100118 False keratosis pilaris atrophicans hereditary skin disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018856 MONDO:0015301 False lichen amyloidosis primary cutaneous amyloidosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018857 MONDO:0020568 False creeping myiasis cutaneous myiasis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018858 MONDO:0004907 False Graham Little-Piccardi-Lassueur syndrome alopecia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018860 MONDO:0002254 False microlissencephaly-micromelia syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018861 MONDO:0016387 False Zellweger-like syndrome without peroxisomal anomalies mitochondrial oxidative phosphorylation disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018865 MONDO:0017672 False striate palmoplantar keratoderma focal palmoplantar keratoderma UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018866 MONDO:0002254 False Aicardi-Goutieres syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0018866 MONDO:0003778 False Aicardi-Goutieres syndrome inborn error of immunity UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0018864 MONDO:0002052 False Kikuchi-Fujimoto disease lymphadenitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018866 MONDO:0006025 False Aicardi-Goutieres syndrome autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0018866 MONDO:0019046 False Aicardi-Goutieres syndrome leukodystrophy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS -MONDO:0018868 MONDO:0015547 False metachromatic leukodystrophy hereditary dementia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018868 MONDO:0020127 False metachromatic leukodystrophy hereditary peripheral neuropathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018869 MONDO:0018838 False cobblestone lissencephaly lissencephaly spectrum disorders UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018870 MONDO:0003847 False arterial calcification of infancy hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0018870 MONDO:0005385 False arterial calcification of infancy vascular disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0018873 MONDO:0015923 False anterior cutaneous nerve entrapment syndrome acquired peripheral neuropathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018875 MONDO:0000426 False Li-Fraumeni syndrome autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0018875 MONDO:0005071 False Li-Fraumeni syndrome nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0018877 MONDO:0007639 False retinitis punctata albescens fundus albipunctatus UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018878 MONDO:0002254 False branchiootic syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0018878 MONDO:0015161 False branchiootic syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018879 MONDO:0004907 False lichen planopilaris alopecia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018881 MONDO:0015756 False myelodysplastic syndrome myeloid hemopathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018882 MONDO:0021166 False vasculitis inflammatory disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018883 MONDO:0020087 False Berardinelli-Seip congenital lipodystrophy hereditary lipodystrophy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018883 MONDO:0021147 False Berardinelli-Seip congenital lipodystrophy disorder of development or morphogenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018884 MONDO:0019296 False Roch-Leri mesosomatous lipomatosis subcutaneous tissue disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018885 MONDO:0021220 False orbital leiomyoma eye neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018889 MONDO:0002320 False hyaline body myopathy congenital nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0018889 MONDO:0016195 False hyaline body myopathy qualitative or quantitative defects of beta-myosin heavy chain (MYH7) UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018889 MONDO:0019952 False hyaline body myopathy congenital myopathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0018890 MONDO:0019810 False Lyell syndrome toxic epidermal necrolysis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018891 MONDO:0002051 False familial tumoral calcinosis integumentary system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018891 MONDO:0002082 False familial tumoral calcinosis endocrine gland neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018891 MONDO:0002123 False familial tumoral calcinosis calcinosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018892 MONDO:0003110 False Wyburn-Mason syndrome skin hemangioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018892 MONDO:0015405 False Wyburn-Mason syndrome cerebrofacial arteriovenous metameric syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018892 MONDO:0019293 False Wyburn-Mason syndrome skin vascular disease UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018892 MONDO:0021605 False Wyburn-Mason syndrome benign eyelid neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018892 MONDO:0042983 False Wyburn-Mason syndrome neurocutaneous syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018892 MONDO:0043218 False Wyburn-Mason syndrome neurovascular disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018893 MONDO:0001256 False Cobb syndrome arteriovenous hemangioma/malformation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018893 MONDO:0003110 False Cobb syndrome skin hemangioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018893 MONDO:0019293 False Cobb syndrome skin vascular disease UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018893 MONDO:0015356 False Cobb syndrome hereditary neoplastic syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018893 MONDO:0100118 False Cobb syndrome hereditary skin disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018894 MONDO:0020127 False distal hereditary motor neuropathy hereditary peripheral neuropathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018894 MONDO:0024257 False distal hereditary motor neuropathy hereditary motor neuron disease UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018895 MONDO:0016625 False Plummer-Vinson syndrome acquired deficiency anemia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018896 MONDO:0002305 False thrombotic thrombocytopenic purpura thrombophilia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0018897 MONDO:0015816 False primary cutaneous CD30+ T-cell lymphoproliferative disease indolent primary cutaneous T-cell lymphoma UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018895 MONDO:0002254 False Plummer-Vinson syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018896 MONDO:0043768 False thrombotic thrombocytopenic purpura thrombocytopenic purpura UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018899 MONDO:0015547 False posterior cortical atrophy hereditary dementia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018899 MONDO:0024237 False posterior cortical atrophy inherited neurodegenerative disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018900 MONDO:0005093 False corticosteroid-sensitive aseptic abscess syndrome skin disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018901 MONDO:0000591 False left ventricular noncompaction intrinsic cardiomyopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0018901 MONDO:0002254 False left ventricular noncompaction syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0018901 MONDO:0005217 False left ventricular noncompaction familial cardiomyopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018902 MONDO:0000627 False hepatocellular adenoma benign endocrine neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0018901 MONDO:0005453 False left ventricular noncompaction congenital heart disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0018902 MONDO:0036976 False hepatocellular adenoma benign epithelial neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018903 MONDO:0005707 False sarcocystosis coccidiosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0018904 MONDO:0002462 False primary membranoproliferative glomerulonephritis glomerulonephritis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018905 MONDO:0017595 False diffuse large B-cell lymphoma aggressive B-cell non-Hodgkin lymphoma UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018906 MONDO:0017594 False follicular lymphoma indolent B-cell non-Hodgkin lymphoma UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018907 MONDO:0000628 False craniopharyngioma central nervous system organ benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0018907 MONDO:0000631 False craniopharyngioma bone benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0018907 MONDO:0023369 False craniopharyngioma disorder of facial skeleton UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018910 MONDO:0018134 False oculocutaneous albinism disorder of melanin metabolism UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018910 MONDO:0019290 False oculocutaneous albinism hypopigmentation of the skin UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018910 MONDO:0100118 False oculocutaneous albinism hereditary skin disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018911 MONDO:0015967 False maturity-onset diabetes of the young monogenic diabetes UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018911 MONDO:0017688 False maturity-onset diabetes of the young disorder of glycolysis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018912 MONDO:0002254 False Cushing syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018912 MONDO:0005495 False Cushing syndrome adrenal gland disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018913 MONDO:0005020 False malakoplakia intestinal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018914 MONDO:0004907 False hypotrichosis simplex alopecia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018918 MONDO:0021385 False carcinoma of gallbladder and extrahepatic biliary tract extrahepatic bile duct neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018919 MONDO:0018230 False McCune-Albright syndrome skeletal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018920 MONDO:0016338 False peripartum cardiomyopathy non-familial dilated cardiomyopathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018920 MONDO:0024575 False peripartum cardiomyopathy pregnancy disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018921 MONDO:0005308 False Meckel syndrome ciliopathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0018921 MONDO:0043009 False Meckel syndrome hereditary lethal multiple congenital anomalies/dysmorphic syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018922 MONDO:0016450 False cold agglutinin disease autoimmune hemolytic anemia, cold type UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018923 MONDO:0002320 False 22q11.2 deletion syndrome congenital nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018923 MONDO:0005046 False 22q11.2 deletion syndrome immune system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018923 MONDO:0005267 False 22q11.2 deletion syndrome heart disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018923 MONDO:0015160 False 22q11.2 deletion syndrome multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018923 MONDO:0022760 False 22q11.2 deletion syndrome chromosome 22q deletion UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018924 MONDO:0016073 False microphthalmia, Lenz type syndromic microphthalmia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018925 MONDO:0005475 False familial or sporadic hemiplegic migraine migraine with aura UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018926 MONDO:0005559 False human prion disease neurodegenerative disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018926 MONDO:0024619 False human prion disease central nervous system infectious disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018927 MONDO:0015530 False SUNCT syndrome trigeminal autonomic cephalalgia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018929 MONDO:0018381 False medial condensing osteitis of the clavicle osteochondrosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018927 MONDO:0002254 False SUNCT syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018930 MONDO:0700124 False monosomy 21 chromosome 21 disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018931 MONDO:0031422 False mucolipidosis type III, alpha/beta familial mucolipidosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0018931 MONDO:0100122 False mucolipidosis type III, alpha/beta GNPTAB-mucolipidosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018931 MONDO:0800088 False mucolipidosis type III, alpha/beta lysosomal storage disease with skeletal involvement UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018932 MONDO:0016330 False cirrhotic cardiomyopathy non-familial hypertrophic cardiomyopathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018932 MONDO:0016338 False cirrhotic cardiomyopathy non-familial dilated cardiomyopathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018933 MONDO:0003847 False Mazabraud syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018933 MONDO:0006424 False Mazabraud syndrome soft tissue neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018935 MONDO:0004948 False hairy cell leukemia B-cell chronic lymphocytic leukemia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0018937 MONDO:0002254 False mucopolysaccharidosis type 3 syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0018937 MONDO:0005381 False mucopolysaccharidosis type 3 bone disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0018938 MONDO:0002254 False mucopolysaccharidosis type 4 syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0018938 MONDO:0005328 False mucopolysaccharidosis type 4 eye disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0018938 MONDO:0005381 False mucopolysaccharidosis type 4 bone disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0018939 MONDO:0019950 False muscle-eye-brain disease congenital muscular dystrophy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018940 MONDO:0002254 False congenital myasthenic syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0018940 MONDO:0003847 False congenital myasthenic syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0018940 MONDO:0020124 False congenital myasthenic syndrome neuromuscular junction disease UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0018941 MONDO:0020568 False furuncular myiasis cutaneous myiasis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018942 MONDO:0016105 False macrophagic myofasciitis acquired skeletal muscle disease UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018943 MONDO:0002921 False myofibrillar myopathy congenital structural myopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0018945 MONDO:0016987 False McLeod neuroacanthocytosis syndrome neuroacanthocytosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0018946 MONDO:0020022 False rhombencephalosynapsis central nervous system malformation UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018947 MONDO:0019952 False centronuclear myopathy congenital myopathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS +MONDO:0018944 MONDO:0024575 False gestational trophoblastic neoplasm pregnancy disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018948 MONDO:0003847 False multiminicore myopathy hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0018948 MONDO:0016197 False multiminicore myopathy qualitative or quantitative defects of selenoprotein N1 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018950 MONDO:0019215 False 3-methylcrotonyl-CoA carboxylase deficiency classic organic aciduria UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018951 MONDO:0016108 False distal myopathy with vocal cord weakness autosomal dominant distal myopathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018952 MONDO:0029000 False argyria poisoning UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018953 MONDO:0018075 False parietal foramina neural tube defect UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0018953 MONDO:0018230 False parietal foramina skeletal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018954 MONDO:0000426 False Loeys-Dietz syndrome autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0018954 MONDO:0005385 False Loeys-Dietz syndrome vascular disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0018954 MONDO:0017310 False Loeys-Dietz syndrome Marfan and Marfan-related disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018955 MONDO:0005087 False recurrent respiratory papillomatosis respiratory system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018955 MONDO:0005586 False recurrent respiratory papillomatosis head and neck neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018955 MONDO:0024623 False recurrent respiratory papillomatosis otorhinolaryngologic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018956 MONDO:0004822 False idiopathic bronchiectasis bronchiectasis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018956 MONDO:0700007 False idiopathic bronchiectasis idiopathic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018957 MONDO:0015923 False pudendal neuralgia acquired peripheral neuropathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018957 MONDO:0021667 False pudendal neuralgia neuralgia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018958 MONDO:0002921 False nemaline myopathy congenital structural myopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0018959 MONDO:0016120 False potassium-aggravated myotonia myotonic syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018959 MONDO:0700223 False potassium-aggravated myotonia hereditary skeletal muscle disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018959 MONDO:0800468 False potassium-aggravated myotonia SCN4A-related channelopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018960 MONDO:0005240 False congenital primary megaureter kidney disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018960 MONDO:0021147 False congenital primary megaureter disorder of development or morphogenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018961 MONDO:0003847 False familial melanoma hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0018962 MONDO:0004335 False common mesentery digestive system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018963 MONDO:0001117 False hereditary methemoglobinemia methemoglobinemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018963 MONDO:0002280 False hereditary methemoglobinemia anemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018963 MONDO:0019050 False hereditary methemoglobinemia inherited hemoglobinopathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018964 MONDO:0004737 False homocystinuria without methylmalonic aciduria homocystinuria UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018964 MONDO:0006025 False homocystinuria without methylmalonic aciduria autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018964 MONDO:0016624 False homocystinuria without methylmalonic aciduria inherited deficiency anemia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018964 MONDO:0019220 False homocystinuria without methylmalonic aciduria inborn disorder of cobalamin metabolism and transport UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018965 MONDO:0005334 False Alport syndrome hereditary nephritis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018967 MONDO:0001902 False short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia congenital agammaglobulinemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018967 MONDO:0010615 False short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia isolated growth hormone deficiency type III UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018969 MONDO:0002320 False craniorachischisis congenital nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018969 MONDO:0021147 False craniorachischisis disorder of development or morphogenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018971 MONDO:0015337 False isolated oxycephaly isolated craniosynostosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018973 MONDO:0020242 False patterned dystrophy of the retinal pigment epithelium hereditary macular dystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018974 MONDO:0019337 False paraneoplastic pemphigus autoimmune bullous skin disease UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0018974 MONDO:0021073 False paraneoplastic pemphigus paraneoplastic syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018975 MONDO:0019755 False neurofibromatosis type 1 developmental defect during embryogenesis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018975 MONDO:0021635 False neurofibromatosis type 1 neurocristopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018976 MONDO:0002254 False schisis association syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018977 MONDO:0015923 False polyneuropathy associated with IgM monoclonal gammapathy with anti-MAG acquired peripheral neuropathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018978 MONDO:0005087 False IgG4-related mediastinitis respiratory system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018978 MONDO:0017287 False IgG4-related mediastinitis IgG4-related disease UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018979 MONDO:0015923 False multifocal motor neuropathy acquired peripheral neuropathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018980 MONDO:0018237 False acrofacial dysostosis, Kennedy-Teebi type acrofacial dysostosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018981 MONDO:0005579 False benign idiopathic neonatal seizures epilepsy, idiopathic generalized UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018981 MONDO:0020070 False benign idiopathic neonatal seizures neonatal epilepsy syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018982 MONDO:0001982 False Niemann-Pick disease type C Niemann-Pick disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018982 MONDO:0006025 False Niemann-Pick disease type C autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018983 MONDO:0001584 False Tolosa-Hunt syndrome ocular motility disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0018983 MONDO:0002254 False Tolosa-Hunt syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0018983 MONDO:0015083 False Tolosa-Hunt syndrome nuclear oculomotor paralysis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018987 MONDO:0002263 False granulomatous mastitis female reproductive system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018988 MONDO:0002254 False iridocorneal endothelial syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018989 MONDO:0002356 False recurrent acute pancreatitis pancreas disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018989 MONDO:0020683 False recurrent acute pancreatitis acute disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018991 MONDO:0005154 False hepatoportal sclerosis liver disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018992 MONDO:0005623 False IgG4-related thyroid disease autoimmune thyroid disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018992 MONDO:0017287 False IgG4-related thyroid disease IgG4-related disease UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0018993 MONDO:0015626 False Charcot-Marie-Tooth disease type 2 Charcot-Marie-Tooth disease UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0018994 MONDO:0000425 False Charcot-Marie-Tooth disease type X X-linked disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0018994 MONDO:0015626 False Charcot-Marie-Tooth disease type X Charcot-Marie-Tooth disease UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0018995 MONDO:0015626 False Charcot-Marie-Tooth disease type 4 Charcot-Marie-Tooth disease UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0018996 MONDO:0020127 False spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 hereditary peripheral neuropathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018997 MONDO:0015160 False Noonan syndrome multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018997 MONDO:0019313 False Noonan syndrome lymphatic malformation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS -MONDO:0018997 MONDO:0020297 False Noonan syndrome Noonan syndrome and Noonan-related syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018998 MONDO:0002320 False Leber congenital amaurosis congenital nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0018998 MONDO:0019118 False Leber congenital amaurosis inherited retinal dystrophy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0018999 MONDO:0017773 False LCAT deficiency hypoalphalipoproteinemia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019000 MONDO:0005071 False perineural cyst nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019002 MONDO:0020022 False Lhermitte-Duclos disease central nervous system malformation UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019003 MONDO:0015075 False multiple endocrine neoplasia type 2 thyroid gland carcinoma UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019005 MONDO:0006025 False nephronophthisis autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0019005 MONDO:0015962 False nephronophthisis inherited renal tubular disease UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019006 MONDO:0002350 False familial idiopathic steroid-resistant nephrotic syndrome familial nephrotic syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019006 MONDO:0018170 False familial idiopathic steroid-resistant nephrotic syndrome idiopathic nephrotic syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019006 MONDO:0044765 False familial idiopathic steroid-resistant nephrotic syndrome steroid-resistant nephrotic syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019007 MONDO:0002263 False vaginal atresia female reproductive system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019007 MONDO:0021147 False vaginal atresia disorder of development or morphogenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019008 MONDO:0017290 False benign recurrent intrahepatic cholestasis familial intrahepatic cholestasis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019008 MONDO:0017755 False benign recurrent intrahepatic cholestasis inborn disorder of bilirubin metabolism UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019009 MONDO:0017094 False isolated focal cortical dysplasia cerebral cortical dysplasia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019009 MONDO:0100283 False isolated focal cortical dysplasia overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019010 MONDO:0017182 False congenital isolated hyperinsulinism familial hyperinsulinism UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019010 MONDO:0007834 False congenital isolated hyperinsulinism islet cell adenomatosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019010 MONDO:0019716 False congenital isolated hyperinsulinism overgrowth syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019011 MONDO:0015626 False Charcot-Marie-Tooth disease type 1 Charcot-Marie-Tooth disease UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0019012 MONDO:0000078 False Carpenter syndrome acrocephalopolysyndactyly UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019012 MONDO:0015160 False Carpenter syndrome multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019013 MONDO:0006526 False non-histaminic angioedema allergic urticaria UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019013 MONDO:0019623 False non-histaminic angioedema hereditary angioedema UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019015 MONDO:0100298 False omphalocele abdominal wall malformation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019016 MONDO:0009637 False maternally-inherited progressive external ophthalmoplegia inborn mitochondrial myopathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019016 MONDO:0016387 False maternally-inherited progressive external ophthalmoplegia mitochondrial oxidative phosphorylation disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019016 MONDO:0024458 False maternally-inherited progressive external ophthalmoplegia disorder of visual system UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019017 MONDO:0002254 False short fifth metacarpals-insulin resistance syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019019 MONDO:0003847 False osteogenesis imperfecta hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0019019 MONDO:0005516 False osteogenesis imperfecta osteochondrodysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0019020 MONDO:0002977 False PANDAS autoimmune disorder of the nervous system UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019022 MONDO:0005395 False sensorineural hearing loss-early graying-essential tremor syndrome movement disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019023 MONDO:0002300 False cutaneous mastocytosis dermis tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0019023 MONDO:0005492 False cutaneous mastocytosis urticaria UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0019023 MONDO:0100118 False cutaneous mastocytosis hereditary skin disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019024 MONDO:0000621 False mast cell sarcoma immune system cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0019024 MONDO:0005089 False mast cell sarcoma sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0019025 MONDO:0016586 False extracutaneous mastocytoma systemic mastocytosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0019026 MONDO:0006025 False autosomal recessive osteopetrosis autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019026 MONDO:0020249 False autosomal recessive osteopetrosis hereditary optic neuropathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019027 MONDO:0018233 False otopalatodigital syndrome otopalatodigital syndrome spectrum disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019028 MONDO:0005135 False amoebiasis due to Entamoeba histolytica parasitic infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019029 MONDO:0005497 False segmental odontomaxillary dysplasia bone development disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019031 MONDO:0010308 False thrombocytopenia with congenital dyserythropoietic anemia thrombocytopenia, X-linked, with or without dyserythropoietic anemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019031 MONDO:0019403 False thrombocytopenia with congenital dyserythropoietic anemia congenital dyserythropoietic anemia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019031 MONDO:0100089 False thrombocytopenia with congenital dyserythropoietic anemia GATA1-Related X-Linked Cytopenia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019032 MONDO:0020119 False X-linked intellectual disability with isolated growth hormone deficiency X-linked syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019033 MONDO:0021154 False primary cutis verticis gyrata dermis disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019034 MONDO:0002356 False accessory pancreas pancreas disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019036 MONDO:0005135 False amoebiasis due to free-living amoebae parasitic infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019037 MONDO:0005395 False progressive supranuclear palsy movement disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0019037 MONDO:0020257 False progressive supranuclear palsy supranuclear oculomotor palsy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019037 MONDO:0002254 False progressive supranuclear palsy syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0019037 MONDO:0005559 False progressive supranuclear palsy neurodegenerative disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0019040 MONDO:0700096 False chromosomal disorder human disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019042 MONDO:0019755 False multiple congenital anomalies/dysmorphic syndrome developmental defect during embryogenesis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019046 MONDO:0024237 False leukodystrophy inherited neurodegenerative disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019050 MONDO:0003847 False inherited hemoglobinopathy hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0019050 MONDO:0044348 False inherited hemoglobinopathy hemoglobinopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019052 MONDO:0003847 False inborn errors of metabolism hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0019053 MONDO:0015653 False peroxisomal disease monogenic epilepsy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019053 MONDO:0100033 False peroxisomal disease metabolic epilepsy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019054 MONDO:0019755 False congenital limb malformation developmental defect during embryogenesis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019056 MONDO:0005071 False neuromuscular disease nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0019060 MONDO:0005381 False bone neoplasm bone disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019060 MONDO:0021581 False bone neoplasm connective tissue neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019064 MONDO:0003757 False hereditary spastic paraplegia paraplegia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0019064 MONDO:0024237 False hereditary spastic paraplegia inherited neurodegenerative disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019065 MONDO:0021179 False amyloidosis proteostasis deficiencies UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019067 MONDO:0018170 False idiopathic steroid-sensitive nephrotic syndrome idiopathic nephrotic syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019068 MONDO:0019722 False congenital membranous nephropathy due to maternal anti-neutral endopeptidase alloimmunization glomerular disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019071 MONDO:0019287 False pure hair and nail ectodermal dysplasia ectodermal dysplasia syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0019072 MONDO:0001751 False intrahepatic cholestasis cholestasis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0019073 MONDO:0007670 False hypotrichosis-lymphedema-telangiectasia-renal defect syndrome hypotrichosis-lymphedema-telangiectasia syndrome (grouping) UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019073 MONDO:0019313 False hypotrichosis-lymphedema-telangiectasia-renal defect syndrome lymphatic malformation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS -MONDO:0019074 MONDO:0011119 False bilateral acute depigmentation of the iris iridogoniodysgenesis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019074 MONDO:0020683 False bilateral acute depigmentation of the iris acute disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019075 MONDO:0011099 False Bosley-Salih-Alorainy syndrome human HOXA1 syndromes UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019075 MONDO:0015160 False Bosley-Salih-Alorainy syndrome multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019076 MONDO:0019287 False circumscribed palmoplantar hypokeratosis ectodermal dysplasia syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019078 MONDO:0002320 False Ritscher-Schinzel syndrome congenital nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0019078 MONDO:0003847 False Ritscher-Schinzel syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0019078 MONDO:0015159 False Ritscher-Schinzel syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019078 MONDO:0020022 False Ritscher-Schinzel syndrome central nervous system malformation UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019079 MONDO:0001516 False proximal spinal muscular atrophy spinal muscular atrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019079 MONDO:0020127 False proximal spinal muscular atrophy hereditary peripheral neuropathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019079 MONDO:0024257 False proximal spinal muscular atrophy hereditary motor neuron disease UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019080 MONDO:0004907 False alopecia totalis alopecia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019082 MONDO:0019337 False bullous pemphigoid autoimmune bullous skin disease UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0019083 MONDO:0009723 False Leigh syndrome with cardiomyopathy Leigh syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019084 MONDO:0005538 False radiation proctitis proctitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019085 MONDO:0005328 False vernal keratoconjunctivitis eye disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -27860,336 +29036,172 @@ MONDO:0019091 MONDO:0021147 False bronchopulmonary dysplasia disorder of develop MONDO:0019092 MONDO:0005087 False infantile apnea respiratory system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019093 MONDO:0021094 False immunodeficiency due to selective anti-polysaccharide antibody deficiency immunodeficiency disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019094 MONDO:0005108 False congenital Epstein-Barr virus infection viral infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019094 MONDO:0016511 False congenital Epstein-Barr virus infection infectious embryofetopathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019095 MONDO:0000314 False plague primary bacterial infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0019095 MONDO:0007023 False plague Yersinia infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019095 MONDO:0100120 False plague vector-borne disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019098 MONDO:0002049 False autoimmune thrombocytopenia thrombocytopenia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019098 MONDO:0007179 False autoimmune thrombocytopenia autoimmune disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019100 MONDO:0005071 False neuromyelitis optica nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0019100 MONDO:0044685 False neuromyelitis optica autoimmune/inflammatory optic neuropathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019101 MONDO:0020247 False retinal capillary malformation congenital vitreoretinal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019101 MONDO:0021231 False retinal capillary malformation retina neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019101 MONDO:0024296 False retinal capillary malformation vascular neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019102 MONDO:0021147 False dentinogenesis imperfecta-short stature-hearing loss-intellectual disability syndrome disorder of development or morphogenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019103 MONDO:0002254 False benign exophthalmos syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019104 MONDO:0002254 False Sandifer syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019104 MONDO:0005395 False Sandifer syndrome movement disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019105 MONDO:0005240 False renal nutcracker syndrome kidney disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019107 MONDO:0003689 False Rh deficiency syndrome familial hemolytic anemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0019107 MONDO:0020102 False Rh deficiency syndrome hereditary stomatocytosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019108 MONDO:0024623 False silent sinus syndrome otorhinolaryngologic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019109 MONDO:0015923 False CANOMAD syndrome acquired peripheral neuropathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019111 MONDO:0002249 False familial thrombocytosis thrombocytosis disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019111 MONDO:0003847 False familial thrombocytosis hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019112 MONDO:0005283 False cancer-associated retinopathy retinal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019112 MONDO:0018215 False cancer-associated retinopathy paraneoplastic neurologic syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019113 MONDO:0016058 False benign paroxysmal torticollis of infancy paroxysmal dystonia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019114 MONDO:0005395 False psychogenic movement disorders movement disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019115 MONDO:0019182 False obesity due to melanocortin 4 receptor deficiency inherited obesity UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019118 MONDO:0003847 False inherited retinal dystrophy hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0019118 MONDO:0004580 False inherited retinal dystrophy retinal degeneration UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0019118 MONDO:0024417 False inherited retinal dystrophy perceptual disorders UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019119 MONDO:0019056 False muscular channelopathy neuromuscular disease UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019120 MONDO:0019278 False pili bifurcati hair anomaly UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019121 MONDO:0002312 False pneumocystosis opportunistic mycosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0019121 MONDO:0005249 False pneumocystosis pneumonia UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0019121 MONDO:0005766 False pneumocystosis fungal lung infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019121 MONDO:0005923 False pneumocystosis Pneumocystis infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019122 MONDO:0004802 False idiopathic acute eosinophilic pneumonia pulmonary eosinophilia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0019122 MONDO:0011895 False idiopathic acute eosinophilic pneumonia idiopathic hypereosinophilic syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019122 MONDO:0015927 False idiopathic acute eosinophilic pneumonia idiopathic eosinophilic pneumonia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019122 MONDO:0020683 False idiopathic acute eosinophilic pneumonia acute disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019123 MONDO:0009509 False continuous spikes and waves during sleep Landau-Kleffner syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019124 MONDO:0015492 False microscopic polyangiitis anti-neutrophil cytoplasmic antibody-associated vasculitis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019125 MONDO:0002342 False relapsing polychondritis chondromalacia UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0019127 MONDO:0020122 False polymyositis acquired idiopathic inflammatory myopathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019124 MONDO:0043494 False microscopic polyangiitis arteritis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019128 MONDO:0002263 False mullerian aplasia female reproductive system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019129 MONDO:0002254 False global developmental delay-osteopenia-ectodermal defect syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019130 MONDO:0002254 False tubular renal disease-cardiomyopathy syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019131 MONDO:0015929 False ossification anomalies-psychomotor developmental delay syndrome thoracic malformation UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019132 MONDO:0020022 False spinal muscular atrophy-Dandy-Walker malformation-cataracts syndrome central nervous system malformation UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019133 MONDO:0015159 False visceral neuropathy-brain anomalies-facial dysmorphism-developmental delay syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019136 MONDO:0002312 False Zygomycosis opportunistic mycosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0019139 MONDO:0002243 False acquired hemophilia hemorrhagic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019139 MONDO:0018660 False acquired hemophilia hemophilia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019139 MONDO:0020599 False acquired hemophilia acquired coagulation factor deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019140 MONDO:0020683 False acute ackee fruit intoxication acute disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019140 MONDO:0029000 False acute ackee fruit intoxication poisoning UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019141 MONDO:0006602 False porokeratosis of Mibelli porokeratosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019142 MONDO:0015951 False inherited porphyria hereditary photodermatosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019142 MONDO:0017754 False inherited porphyria inborn disorder of porphyrin metabolism UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019142 MONDO:0037939 False inherited porphyria porphyria UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019143 MONDO:0004664 False angiostrongyliasis helminthiasis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0019144 MONDO:0002304 False hereditary thrombophilia due to congenital protein S deficiency protein S deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0019144 MONDO:0100240 False hereditary thrombophilia due to congenital protein S deficiency inherited thrombophilia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019145 MONDO:0100240 False hereditary thrombophilia due to congenital protein C deficiency inherited thrombophilia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019146 MONDO:0015979 False inherited susceptibility to mycobacterial diseases hereditary predisposition to infections UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019147 MONDO:0002875 False myiasis parasitic ectoparasitic infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0019148 MONDO:0800449 False Wolman disease lysosomal acid lipase deficiency UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS -MONDO:0019149 MONDO:0800449 False cholesteryl ester storage disease lysosomal acid lipase deficiency UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS -MONDO:0019151 MONDO:0019118 False oligocone trichromacy inherited retinal dystrophy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019152 MONDO:0019118 False Oguchi disease inherited retinal dystrophy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019153 MONDO:0015159 False brain malformation-congenital heart disease-postaxial polydactyly syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019154 MONDO:0003847 False androgen insensitivity syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0019154 MONDO:0020040 False androgen insensitivity syndrome 46,XY disorder of sex development UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019155 MONDO:0005151 False Leydig cell hypoplasia endocrine system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0019156 MONDO:0002254 False angioosteohypotrophic syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019156 MONDO:0005497 False angioosteohypotrophic syndrome bone development disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019157 MONDO:0015194 False myelodysplastic syndrome with ring sideroblasts sideroblastic anemia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019157 MONDO:0700007 False myelodysplastic syndrome with ring sideroblasts idiopathic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019158 MONDO:0016345 False tropical endomyocardial fibrosis non-familial restrictive cardiomyopathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019159 MONDO:0016345 False Loeffler endocarditis non-familial restrictive cardiomyopathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019160 MONDO:0005559 False primary progressive freezing gait neurodegenerative disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019160 MONDO:0021095 False primary progressive freezing gait parkinsonian disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019161 MONDO:0015962 False pseudohypoaldosteronism type 1 inherited renal tubular disease UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019161 MONDO:0100323 False pseudohypoaldosteronism type 1 inherited pseudohypoaldosteronism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019162 MONDO:0100323 False pseudohypoaldosteronism type 2 inherited pseudohypoaldosteronism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019164 MONDO:0002254 False 6q terminal deletion syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019164 MONDO:0016905 False 6q terminal deletion syndrome partial deletion of the long arm of chromosome 6 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019165 MONDO:0000088 False central precocious puberty precocious puberty UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019165 MONDO:0003847 False central precocious puberty hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0019167 MONDO:0006794 False immunoglobulin A vasculitis hypersensitivity vasculitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0019167 MONDO:0015491 False immunoglobulin A vasculitis immune complex mediated vasculitis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019167 MONDO:0800113 False immunoglobulin A vasculitis necrotizing vasculitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019168 MONDO:0016127 False pyomyositis bacterial myositis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019169 MONDO:0004069 False pyruvate dehydrogenase deficiency inborn mitochondrial metabolism disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0019169 MONDO:0015653 False pyruvate dehydrogenase deficiency monogenic epilepsy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019169 MONDO:0016789 False pyruvate dehydrogenase deficiency pyruvate metabolism disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019169 MONDO:0019214 False pyruvate dehydrogenase deficiency inborn carbohydrate metabolic disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0019169 MONDO:0020127 False pyruvate dehydrogenase deficiency hereditary peripheral neuropathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019169 MONDO:0100033 False pyruvate dehydrogenase deficiency metabolic epilepsy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019170 MONDO:0043494 False polyarteritis nodosa arteritis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019171 MONDO:0002442 False familial long QT syndrome long QT syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019171 MONDO:0003847 False familial long QT syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019172 MONDO:0002289 False aniridia iris disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0019172 MONDO:0021147 False aniridia disorder of development or morphogenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019173 MONDO:0020010 False rabies infectious disorder of the nervous system UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019177 MONDO:0019046 False odontoleukodystrophy leukodystrophy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019178 MONDO:0015161 False auricular abnormalities-cleft lip with or without cleft palate-ocular abnormalities syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019179 MONDO:0016908 False monosomy 9q22.3 partial monosomy of the long arm of chromosome 9 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019180 MONDO:0000426 False hereditary hemorrhagic telangiectasia autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0019180 MONDO:0016231 False hereditary hemorrhagic telangiectasia capillary malformation UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019180 MONDO:0019755 False hereditary hemorrhagic telangiectasia developmental defect during embryogenesis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019181 MONDO:0000509 False non-syndromic X-linked intellectual disability non-syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0019175 MONDO:0019297 False primary lymphedema lymphedema UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019180 MONDO:0001576 False hereditary hemorrhagic telangiectasia telangiectasis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0019181 MONDO:0100284 False non-syndromic X-linked intellectual disability X-linked intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019182 MONDO:0003847 False inherited obesity hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019182 MONDO:0005151 False inherited obesity endocrine system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019182 MONDO:0011122 False inherited obesity obesity disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019186 MONDO:0000314 False Q fever primary bacterial infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0019186 MONDO:0100120 False Q fever vector-borne disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019187 MONDO:0003847 False Axenfeld-Rieger syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0019187 MONDO:0015161 False Axenfeld-Rieger syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019187 MONDO:0002254 False Axenfeld-Rieger syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0019187 MONDO:0021635 False Axenfeld-Rieger syndrome neurocristopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019188 MONDO:0000508 False Rubinstein-Taybi syndrome syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0019188 MONDO:0002320 False Rubinstein-Taybi syndrome congenital nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0019188 MONDO:0015159 False Rubinstein-Taybi syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019188 MONDO:0018234 False Rubinstein-Taybi syndrome dysostosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0019188 MONDO:0019054 False Rubinstein-Taybi syndrome congenital limb malformation UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019188 MONDO:0100172 False Rubinstein-Taybi syndrome intellectual disability, autosomal dominant UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING -MONDO:0019189 MONDO:0019052 False inborn disorder of amino acid and other organic acid metabolism inborn errors of metabolism UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019190 MONDO:0017380 False juvenile polyposis of infancy juvenile polyposis syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019191 MONDO:0000587 False IgG4-related dacryoadenitis and sialadenitis autoimmune disease of ear, nose and throat UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0019191 MONDO:0001854 False IgG4-related dacryoadenitis and sialadenitis lacrimal apparatus disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0019191 MONDO:0018675 False IgG4-related dacryoadenitis and sialadenitis IgG4-related ophthalmic disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019192 MONDO:0020088 False AKT2-related familial partial lipodystrophy familial partial lipodystrophy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019193 MONDO:0020089 False acquired generalized lipodystrophy acquired lipodystrophy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019194 MONDO:0006573 False localized lipodystrophy lipodystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019195 MONDO:0011577 False hereditary inclusion body myopathy-joint contractures-ophthalmoplegia syndrome myopathy, proximal, and ophthalmoplegia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019195 MONDO:0016112 False hereditary inclusion body myopathy-joint contractures-ophthalmoplegia syndrome hereditary inclusion-body myopathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019196 MONDO:0001256 False Foix-Alajouanine syndrome arteriovenous hemangioma/malformation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019197 MONDO:0015653 False folinic acid-responsive seizures monogenic epilepsy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019197 MONDO:0019253 False folinic acid-responsive seizures metabolic disease involving other neurotransmitter deficiency UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019197 MONDO:0100033 False folinic acid-responsive seizures metabolic epilepsy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019198 MONDO:0017255 False sympathetic ophthalmia panuveitis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0019198 MONDO:0017634 False sympathetic ophthalmia non-infectious anterior uveitis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019199 MONDO:0005093 False interstitial granulomatous dermatitis with arthritis skin disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019199 MONDO:0005554 False interstitial granulomatous dermatitis with arthritis rheumatic disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019200 MONDO:0019118 False retinitis pigmentosa inherited retinal dystrophy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0019200 MONDO:0019216 False retinitis pigmentosa inborn disorder of amino acid transport UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019201 MONDO:0000995 False thyrotoxic periodic paralysis familial periodic paralysis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019203 MONDO:0020683 False acute interstitial pneumonia acute disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019204 MONDO:0002429 False respiratory bronchiolitis-interstitial lung disease syndrome idiopathic interstitial pneumonia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019205 MONDO:0019287 False trichodysplasia-amelogenesis imperfecta syndrome ectodermal dysplasia syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019206 MONDO:0019287 False sparse hair-short stature-skin anomalies syndrome ectodermal dysplasia syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019207 MONDO:0100164 False DEND syndrome permanent neonatal diabetes mellitus UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019208 MONDO:0020068 False Bickerstaff brainstem encephalitis postinfectious encephalitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019209 MONDO:0020601 False Japanese encephalitis mosquito-borne viral encephalitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019210 MONDO:0005872 False cutaneous neuroendocrine carcinoma nervous system cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019210 MONDO:0017341 False cutaneous neuroendocrine carcinoma virus associated tumor UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019210 MONDO:0021635 False cutaneous neuroendocrine carcinoma neurocristopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019211 MONDO:0019284 False isolated congenital anonychia inherited isolated nail anomaly UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019212 MONDO:0006602 False disseminated superficial actinic porokeratosis porokeratosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019214 MONDO:0019052 False inborn carbohydrate metabolic disorder inborn errors of metabolism UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0019214 MONDO:0037792 False inborn carbohydrate metabolic disorder carbohydrate metabolism disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019215 MONDO:0000688 False classic organic aciduria inborn organic aciduria UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019216 MONDO:0004736 False inborn disorder of amino acid transport inborn disorder of amino acid metabolism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019218 MONDO:0019189 False inborn disorder of bile acid synthesis inborn disorder of amino acid and other organic acid metabolism UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019218 MONDO:0019256 False inborn disorder of bile acid synthesis sterol metabolism disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019218 MONDO:0045022 False inborn disorder of bile acid synthesis disorder of organic acid metabolism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019219 MONDO:0019250 False inborn disorder of neurotransmitter metabolism and transport inborn disorder of biogenic amine metabolism and transport UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019220 MONDO:0017758 False inborn disorder of cobalamin metabolism and transport disorder of vitamin and non-protein cofactor absorption and transport UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019222 MONDO:0019189 False inborn disorder of methionine cycle and sulfur amino acid metabolism inborn disorder of amino acid and other organic acid metabolism UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019222 MONDO:0045022 False inborn disorder of methionine cycle and sulfur amino acid metabolism disorder of organic acid metabolism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019222 MONDO:0056803 False inborn disorder of methionine cycle and sulfur amino acid metabolism sulfur metabolism disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019223 MONDO:0019243 False disorder of fatty acid and ketone body metabolism inborn disorder of energy metabolism UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019225 MONDO:0002908 False disorder of gluconeogenesis glucose metabolism disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019225 MONDO:0019214 False disorder of gluconeogenesis inborn carbohydrate metabolic disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019226 MONDO:0017706 False glucose transport disorder disorder of carbohydrate transmembrane transport and absorption UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019226 MONDO:0045015 False glucose transport disorder carbohydrate transport disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019228 MONDO:0004736 False inborn disorder of histidine metabolism inborn disorder of amino acid metabolism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0019228 MONDO:0019189 False inborn disorder of histidine metabolism inborn disorder of amino acid and other organic acid metabolism UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019228 MONDO:0037871 False inborn disorder of histidine metabolism amino acid metabolism disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019229 MONDO:0002525 False inborn disorder of ketolysis inherited lipid metabolism disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019229 MONDO:0019223 False inborn disorder of ketolysis disorder of fatty acid and ketone body metabolism UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019230 MONDO:0019189 False inborn disorder of ornithine or proline metabolism inborn disorder of amino acid and other organic acid metabolism UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019231 MONDO:0018605 False inborn disorder of pentose phosphate metabolism disorders of pentose/polyol metabolism UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019232 MONDO:0100473 False inborn disorder of peptide metabolism disorder of peptide and amine metabolism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019233 MONDO:0100257 False disorder of peroxisomal beta oxidation peroxisomal single enzyme/protein defect UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019234 MONDO:0002254 False peroxisome biogenesis disorder syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0019234 MONDO:0006025 False peroxisome biogenesis disorder autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0019234 MONDO:0019053 False peroxisome biogenesis disorder peroxisomal disease UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0019234 MONDO:0020127 False peroxisome biogenesis disorder hereditary peripheral neuropathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019235 MONDO:0004736 False inborn disorder of phenylalanine and tyrosine metabolism inborn disorder of amino acid metabolism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019236 MONDO:0019254 False inborn disorder of purine metabolism inborn disorder of purine or pyrimidine metabolism UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019236 MONDO:0037829 False inborn disorder of purine metabolism purine metabolism disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019237 MONDO:0005528 False inborn disorder of pyridoxine metabolism inborn vitamin metabolic disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019237 MONDO:0019250 False inborn disorder of pyridoxine metabolism inborn disorder of biogenic amine metabolism and transport UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019238 MONDO:0019254 False inborn disorder of pyrimidine metabolism inborn disorder of purine or pyrimidine metabolism UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0019238 MONDO:0037937 False inborn disorder of pyrimidine metabolism pyrimidine metabolism disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019239 MONDO:0019189 False inborn disorder of serine family metabolism inborn disorder of amino acid and other organic acid metabolism UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019239 MONDO:0037871 False inborn disorder of serine family metabolism amino acid metabolism disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019240 MONDO:0015327 False sterol biosynthesis disorder developmental anomaly of metabolic origin UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019240 MONDO:0019256 False sterol biosynthesis disorder sterol metabolism disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019241 MONDO:0019189 False inborn disorder of the gamma-glutamyl cycle inborn disorder of amino acid and other organic acid metabolism UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019242 MONDO:0004736 False inborn disorder of branched-chain amino acid metabolism inborn disorder of amino acid metabolism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019242 MONDO:0019189 False inborn disorder of branched-chain amino acid metabolism inborn disorder of amino acid and other organic acid metabolism UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019242 MONDO:0037871 False inborn disorder of branched-chain amino acid metabolism amino acid metabolism disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019243 MONDO:0019052 False inborn disorder of energy metabolism inborn errors of metabolism UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019245 MONDO:0002525 False lysosomal lipid storage disorder inherited lipid metabolism disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0019245 MONDO:0002561 False lysosomal lipid storage disorder lysosomal storage disease UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0019246 MONDO:0002561 False inborn disorder of lysosomal amino acid transport lysosomal storage disease UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019248 MONDO:0015327 False mucolipidosis developmental anomaly of metabolic origin UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019248 MONDO:0017731 False mucolipidosis glycoproteinosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019249 MONDO:0015327 False mucopolysaccharidosis developmental anomaly of metabolic origin UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019249 MONDO:0019214 False mucopolysaccharidosis inborn carbohydrate metabolic disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0019249 MONDO:0100365 False mucopolysaccharidosis mucopolysaccharidosis or mucopolysaccharidosis-like disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019250 MONDO:0019052 False inborn disorder of biogenic amine metabolism and transport inborn errors of metabolism UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019251 MONDO:0015327 False oligosaccharidosis developmental anomaly of metabolic origin UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019251 MONDO:0017731 False oligosaccharidosis glycoproteinosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019251 MONDO:0019214 False oligosaccharidosis inborn carbohydrate metabolic disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019253 MONDO:0019250 False metabolic disease involving other neurotransmitter deficiency inborn disorder of biogenic amine metabolism and transport UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019254 MONDO:0019052 False inborn disorder of purine or pyrimidine metabolism inborn errors of metabolism UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0019255 MONDO:0019245 False sphingolipidosis lysosomal lipid storage disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0019256 MONDO:0002525 False sterol metabolism disorder inherited lipid metabolism disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019256 MONDO:0045012 False sterol metabolism disorder steroid metabolism disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019257 MONDO:0006507 False hemochromatosis type 2 hereditary hemochromatosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0019258 MONDO:0009861 False mild phenylketonuria phenylketonuria UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019259 MONDO:0009861 False classic phenylketonuria phenylketonuria UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019260 MONDO:0016295 False adult neuronal ceroid lipofuscinosis neuronal ceroid lipofuscinosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019260 MONDO:0020143 False adult neuronal ceroid lipofuscinosis cerebral lipidosis with dementia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019261 MONDO:0016295 False infantile neuronal ceroid lipofuscinosis neuronal ceroid lipofuscinosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019261 MONDO:0020143 False infantile neuronal ceroid lipofuscinosis cerebral lipidosis with dementia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019262 MONDO:0016295 False juvenile neuronal ceroid lipofuscinosis neuronal ceroid lipofuscinosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019262 MONDO:0020143 False juvenile neuronal ceroid lipofuscinosis cerebral lipidosis with dementia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019263 MONDO:0001676 False autosomal erythropoietic protoporphyria erythropoietic protoporphyria UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019264 MONDO:0017779 False alpha-N-acetylgalactosaminidase deficiency type 3 alpha-N-acetylgalactosaminidase deficiency UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0019265 MONDO:0017186 False diazoxide-resistant focal hyperinsulinism diazoxide-resistant hyperinsulinism UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019266 MONDO:0019751 False SAPHO syndrome autoinflammatory syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019267 MONDO:0009612 False vitamin B12-unresponsive methylmalonic acidemia type mut- methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019268 MONDO:0005093 False epidermal disease skin disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019269 MONDO:0019268 False ichthyosis epidermal disease UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019270 MONDO:0019268 False erythrokeratoderma epidermal disease UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019272 MONDO:0006590 False hereditary palmoplantar keratoderma palmoplantar keratosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019272 MONDO:0019268 False hereditary palmoplantar keratoderma epidermal disease UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019272 MONDO:0100118 False hereditary palmoplantar keratoderma hereditary skin disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019276 MONDO:0006541 False inherited epidermolysis bullosa epidermolysis bullosa UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019276 MONDO:0019268 False inherited epidermolysis bullosa epidermal disease UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019276 MONDO:0100118 False inherited epidermolysis bullosa hereditary skin disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019278 MONDO:0002917 False hair anomaly disorder of pilosebaceous unit UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019278 MONDO:0024481 False hair anomaly skin appendage disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019280 MONDO:0002917 False hypertrichosis disorder of pilosebaceous unit UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0019283 MONDO:0002884 False nail anomaly nail disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019284 MONDO:0002884 False inherited isolated nail anomaly nail disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0019284 MONDO:0003847 False inherited isolated nail anomaly hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0019287 MONDO:0021026 False ectodermal dysplasia syndrome hereditary epidermal appendage anomaly UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019287 MONDO:0100118 False ectodermal dysplasia syndrome hereditary skin disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019289 MONDO:0019288 False hyperpigmentation of the skin skin pigmentation disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019290 MONDO:0019288 False hypopigmentation of the skin skin pigmentation disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019293 MONDO:0005385 False skin vascular disease vascular disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0019294 MONDO:0021154 False mixed dermis disorder dermis disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019296 MONDO:0002051 False subcutaneous tissue disorder integumentary system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019297 MONDO:0005833 False lymphedema lymphatic system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0019303 MONDO:0700096 False premature aging syndrome human disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019306 MONDO:0006025 False congenital non-bullous ichthyosiform erythroderma autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019306 MONDO:0017265 False congenital non-bullous ichthyosiform erythroderma autosomal recessive congenital ichthyosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019307 MONDO:0009180 False generalized junctional epidermolysis bullosa non-Herlitz type junctional epidermolysis bullosa, non-Herlitz type UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019308 MONDO:0017612 False junctional epidermolysis bullosa inversa junctional epidermolysis bullosa UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019309 MONDO:0017612 False late-onset junctional epidermolysis bullosa junctional epidermolysis bullosa UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019310 MONDO:0009179 False recessive dystrophic epidermolysis bullosa inversa recessive dystrophic epidermolysis bullosa UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019311 MONDO:0008093 False wooly hair nevus nevus, epidermal UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019312 MONDO:0017305 False Hermansky-Pudlak syndrome syndromic oculocutaneous albinism UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019312 MONDO:0017739 False Hermansky-Pudlak syndrome disorder of lysosomal-related organelles UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019312 MONDO:0021181 False Hermansky-Pudlak syndrome inherited blood coagulation disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019313 MONDO:0003847 False lymphatic malformation hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0019313 MONDO:0005385 False lymphatic malformation vascular disorder UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0019313 MONDO:0019175 False lymphatic malformation primary lymphedema UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019314 MONDO:0019023 False cutaneous mastocytoma cutaneous mastocytosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019318 MONDO:0016831 False inflammatory linear verrucous epidermal nevus linear verrucous nevus syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019319 MONDO:0016831 False verrucous nevus linear verrucous nevus syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019320 MONDO:0016831 False acanthokeratolytic verrucous nevus linear verrucous nevus syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019321 MONDO:0021106 False atypical Werner syndrome laminopathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019321 MONDO:0021147 False atypical Werner syndrome disorder of development or morphogenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019322 MONDO:0008219 False pemphigus vegetans pemphigus vulgaris UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019324 MONDO:0006594 False pemphigus foliaceus pemphigus UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0019325 MONDO:0017318 False phakomatosis cesioflammea phakomatosis pigmentovascularis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019326 MONDO:0017318 False phakomatosis cesiomarmorata phakomatosis pigmentovascularis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019327 MONDO:0017318 False phakomatosis spilorosea phakomatosis pigmentovascularis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019329 MONDO:0002013 False microcystic lymphatic malformation lymphangioma UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019330 MONDO:0019278 False pili gemini hair anomaly UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019332 MONDO:0017675 False punctate palmoplantar keratoderma type 1 punctate palmoplantar keratoderma UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019333 MONDO:0009734 False autosomal recessive hyperinsulinism due to SUR1 deficiency hyperinsulinemic hypoglycemia, familial, 1 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019333 MONDO:0015625 False autosomal recessive hyperinsulinism due to SUR1 deficiency diazoxide-resistant diffuse hyperinsulinism UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019334 MONDO:0011153 False autosomal recessive hyperinsulinism due to Kir6.2 deficiency hyperinsulinemic hypoglycemia, familial, 2 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019334 MONDO:0015625 False autosomal recessive hyperinsulinism due to Kir6.2 deficiency diazoxide-resistant diffuse hyperinsulinism UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019335 MONDO:0009861 False mild hyperphenylalaninemia phenylketonuria UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019336 MONDO:0005328 False Gardner syndrome eye disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019337 MONDO:0002406 False autoimmune bullous skin disease dermatitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0019337 MONDO:0006617 False autoimmune bullous skin disease vesiculobullous skin disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0019337 MONDO:0007179 False autoimmune bullous skin disease autoimmune disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0019338 MONDO:0019751 False sarcoidosis autoinflammatory syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019339 MONDO:0700028 False 47,XYY syndrome chromosome Y disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019339 MONDO:0700065 False 47,XYY syndrome trisomy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019342 MONDO:0006025 False Seckel syndrome autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0019344 MONDO:0020122 False antisynthetase syndrome acquired idiopathic inflammatory myopathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019345 MONDO:0000314 False shigellosis primary bacterial infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0019340 MONDO:0007179 False scleroderma autoimmune disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0019345 MONDO:0001517 False shigellosis dysentery UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0019345 MONDO:0024634 False shigellosis large intestine disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019346 MONDO:0017734 False sialidosis type 1 sialidosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019346 MONDO:0031422 False sialidosis type 1 familial mucolipidosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019347 MONDO:0015947 False peeling skin syndrome inherited ichthyosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019349 MONDO:0015160 False Sotos syndrome multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019349 MONDO:0016904 False Sotos syndrome partial deletion of the long arm of chromosome 5 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019349 MONDO:0018230 False Sotos syndrome skeletal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019351 MONDO:0008449 False isolated spina bifida spina bifida UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019353 MONDO:0005150 False Stargardt disease age-related macular degeneration UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0019353 MONDO:0016420 False Stargardt disease familial flecked retinopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019354 MONDO:0016761 False Stickler syndrome spondyloepiphyseal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0019354 MONDO:0020248 False Stickler syndrome vitreoretinal degeneration UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019355 MONDO:0005578 False adult-onset Still disease arthritic joint disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0019355 MONDO:0019751 False adult-onset Still disease autoinflammatory syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019356 MONDO:0019755 False urogenital tract malformation developmental defect during embryogenesis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019357 MONDO:0002602 False congenital narrowing of cervical spinal canal central nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019358 MONDO:0001176 False encephalopathy due to sulfite oxidase deficiency lens disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019358 MONDO:0015327 False encephalopathy due to sulfite oxidase deficiency developmental anomaly of metabolic origin UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019358 MONDO:0019222 False encephalopathy due to sulfite oxidase deficiency inborn disorder of methionine cycle and sulfur amino acid metabolism UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019359 MONDO:0001195 False Rocky mountain spotted fever spotted fever UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0019360 MONDO:0001195 False rickettsialpox spotted fever UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0019362 MONDO:0001246 False epidemic louse-borne typhus typhus UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0019364 MONDO:0001195 False pseudotyphus of California spotted fever UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019365 MONDO:0001246 False scrub typhus typhus UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0019365 MONDO:0600003 False scrub typhus bacterial hemorrhagic fever UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019366 MONDO:0019246 False free sialic acid storage disease inborn disorder of lysosomal amino acid transport UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019367 MONDO:0002635 False regional odontodysplasia periodontal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019368 MONDO:0006858 False florid cemento-osseous dysplasia mouth disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019369 MONDO:0024317 False complex regional pain syndrome chronic pain syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019370 MONDO:0002263 False vulvovaginal gingival syndrome female reproductive system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019371 MONDO:0005560 False narcolepsy without cataplexy brain disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019371 MONDO:0021107 False narcolepsy without cataplexy narcolepsy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019372 MONDO:0019060 False solitary bone cyst bone neoplasm UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019374 MONDO:0020043 False CAMOS syndrome autosomal recessive congenital cerebellar ataxia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019375 MONDO:0001150 False megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome hydrocephalus UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019375 MONDO:0011348 False megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome non-syndromic polydactyly UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019375 MONDO:0100283 False megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -28203,312 +29215,178 @@ MONDO:0019380 MONDO:0005643 False western equine encephalitis Alphavirus infecti MONDO:0019380 MONDO:0020601 False western equine encephalitis mosquito-borne viral encephalitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019383 MONDO:0002562 False acute disseminated encephalomyelitis demyelinating disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0019383 MONDO:0020068 False acute disseminated encephalomyelitis postinfectious encephalitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0019384 MONDO:0006009 False encephalitis lethargica viral encephalitis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0019384 MONDO:0020068 False encephalitis lethargica postinfectious encephalitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0019384 MONDO:0021095 False encephalitis lethargica parkinsonian disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0019385 MONDO:0020068 False steroid-responsive encephalopathy associated with autoimmune thyroiditis postinfectious encephalitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019385 MONDO:0020640 False steroid-responsive encephalopathy associated with autoimmune thyroiditis autoimmune encephalitis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019385 MONDO:0100029 False steroid-responsive encephalopathy associated with autoimmune thyroiditis antibody mediated epilepsy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019386 MONDO:0020648 False progressive rubella panencephalitis rubella encephalitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019387 MONDO:0015161 False macrostomia-preauricular tags-external ophthalmoplegia syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019388 MONDO:0015161 False pelvis syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019388 MONDO:0024296 False pelvis syndrome vascular neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019388 MONDO:0700245 False pelvis syndrome syndromic disorder of cell proliferation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019390 MONDO:0002254 False Susac syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019390 MONDO:0007179 False Susac syndrome autoimmune disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019391 MONDO:0000577 False Fanconi anemia congenital anemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019391 MONDO:0001713 False Fanconi anemia inherited aplastic anemia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0019391 MONDO:0015161 False Fanconi anemia multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019391 MONDO:0003225 False Fanconi anemia bone marrow disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0019391 MONDO:0015327 False Fanconi anemia developmental anomaly of metabolic origin UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019391 MONDO:0018234 False Fanconi anemia dysostosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0019391 MONDO:0019054 False Fanconi anemia congenital limb malformation UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019391 MONDO:0021190 False Fanconi anemia DNA repair disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019391 MONDO:0100137 False Fanconi anemia telomere syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019393 MONDO:0019218 False idiopathic malabsorption due to bile acid synthesis defects inborn disorder of bile acid synthesis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019393 MONDO:0020598 False idiopathic malabsorption due to bile acid synthesis defects malabsorption syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019393 MONDO:0700007 False idiopathic malabsorption due to bile acid synthesis defects idiopathic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019394 MONDO:0015962 False Senior-Boichis syndrome inherited renal tubular disease UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019395 MONDO:0006026 False Hinman syndrome urinary bladder disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019396 MONDO:0019722 False collagen type III glomerulopathy glomerular disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019398 MONDO:0011271 False desmin-related myopathy with Mallory body-like inclusions rigid spine muscular dystrophy 1 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019398 MONDO:0016112 False desmin-related myopathy with Mallory body-like inclusions hereditary inclusion-body myopathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019399 MONDO:0019119 False Isaac syndrome muscular channelopathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019401 MONDO:0018170 False sporadic idiopathic steroid-resistant nephrotic syndrome idiopathic nephrotic syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019401 MONDO:0044765 False sporadic idiopathic steroid-resistant nephrotic syndrome steroid-resistant nephrotic syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019402 MONDO:0005151 False beta thalassemia endocrine system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0019402 MONDO:0017145 False beta thalassemia beta-thalassemia and related diseases UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019403 MONDO:0003689 False congenital dyserythropoietic anemia familial hemolytic anemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0019404 MONDO:0016749 False perineurioma tumor of cranial and spinal nerves UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019405 MONDO:0024237 False facial onset sensory and motor neuronopathy inherited neurodegenerative disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019406 MONDO:0019695 False craniofacial conodysplasia acromelic dysplasia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019407 MONDO:0000426 False microcephalic osteodysplastic dysplasia, Saul-Wilson type autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0019407 MONDO:0005497 False microcephalic osteodysplastic dysplasia, Saul-Wilson type bone development disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0019407 MONDO:0800063 False microcephalic osteodysplastic dysplasia, Saul-Wilson type primordial dwarfism and slender bone disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019408 MONDO:0019701 False Astley-Kendall dysplasia chondrodysplasia punctata UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019409 MONDO:0005554 False idiopathic juvenile osteoporosis rheumatic disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0019409 MONDO:0023603 False idiopathic juvenile osteoporosis hereditary disorder of connective tissue UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019409 MONDO:0700007 False idiopathic juvenile osteoporosis idiopathic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019411 MONDO:0007653 False genochondromatosis type 1 genochondromatosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019412 MONDO:0018230 False dysspondyloenchondromatosis skeletal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019413 MONDO:0002254 False ischio-vertebral syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019413 MONDO:0003847 False ischio-vertebral syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019413 MONDO:0018234 False ischio-vertebral syndrome dysostosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019414 MONDO:0002254 False BRESEK syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019415 MONDO:0002243 False fetal and neonatal alloimmune thrombocytopenia hemorrhagic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019416 MONDO:0002320 False X-linked intellectual disability-hypogammaglobulinemia-progressive neurological deterioration syndrome congenital nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019416 MONDO:0015159 False X-linked intellectual disability-hypogammaglobulinemia-progressive neurological deterioration syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019416 MONDO:0020119 False X-linked intellectual disability-hypogammaglobulinemia-progressive neurological deterioration syndrome X-linked syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019417 MONDO:0020119 False X-linked intellectual disability-precocious puberty-obesity syndrome X-linked syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019418 MONDO:0002320 False X-linked intellectual disability-epilepsy-progressive joint contractures-dysmorphism syndrome congenital nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019418 MONDO:0015159 False X-linked intellectual disability-epilepsy-progressive joint contractures-dysmorphism syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019418 MONDO:0020119 False X-linked intellectual disability-epilepsy-progressive joint contractures-dysmorphism syndrome X-linked syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019419 MONDO:0020119 False X-linked intellectual disability-macrocephaly-macroorchidism syndrome X-linked syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019420 MONDO:0002320 False X-linked intellectual disability, Pai type congenital nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019420 MONDO:0015159 False X-linked intellectual disability, Pai type multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019420 MONDO:0020119 False X-linked intellectual disability, Pai type X-linked syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019421 MONDO:0020119 False X-linked intellectual disability, Seemanova type X-linked syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019422 MONDO:0002320 False X-linked intellectual disability, Stevenson type congenital nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019422 MONDO:0015159 False X-linked intellectual disability, Stevenson type multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019422 MONDO:0020119 False X-linked intellectual disability, Stevenson type X-linked syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019423 MONDO:0002320 False X-linked intellectual disability, Stoll type congenital nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019423 MONDO:0015159 False X-linked intellectual disability, Stoll type multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019423 MONDO:0020119 False X-linked intellectual disability, Stoll type X-linked syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019424 MONDO:0020119 False X-linked intellectual disability-acromegaly-hyperactivity syndrome X-linked syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019426 MONDO:0020119 False X-linked intellectual disability-corpus callosum agenesis-spastic quadriparesis syndrome X-linked syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019426 MONDO:0021147 False X-linked intellectual disability-corpus callosum agenesis-spastic quadriparesis syndrome disorder of development or morphogenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019427 MONDO:0024237 False X-linked neurodegenerative syndrome, Bertini type inherited neurodegenerative disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019428 MONDO:0020119 False fried syndrome X-linked syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019429 MONDO:0024237 False X-linked neurodegenerative syndrome, Hamel type inherited neurodegenerative disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019430 MONDO:0016612 False X-linked intellectual disability-ataxia-apraxia syndrome X-linked cerebellar ataxia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019430 MONDO:0020119 False X-linked intellectual disability-ataxia-apraxia syndrome X-linked syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019431 MONDO:0005154 False primitive portal vein thrombosis liver disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019432 MONDO:0018456 False rheumatoid factor-negative juvenile idiopathic arthritis polyarticular juvenile idiopathic arthritis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019434 MONDO:0019751 False systemic-onset juvenile idiopathic arthritis autoinflammatory syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019435 MONDO:0018456 False rheumatoid factor-positive polyarticular juvenile idiopathic arthritis polyarticular juvenile idiopathic arthritis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019436 MONDO:0011429 False psoriasis-related juvenile idiopathic arthritis juvenile idiopathic arthritis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019436 MONDO:0011849 False psoriasis-related juvenile idiopathic arthritis psoriatic arthritis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019438 MONDO:0005071 False AL amyloidosis nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0019438 MONDO:0006504 False AL amyloidosis acquired metabolic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0019438 MONDO:0016330 False AL amyloidosis non-familial hypertrophic cardiomyopathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019438 MONDO:0016345 False AL amyloidosis non-familial restrictive cardiomyopathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019439 MONDO:0005071 False AA amyloidosis nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0019439 MONDO:0016345 False AA amyloidosis non-familial restrictive cardiomyopathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019440 MONDO:0018590 False wild type ABeta2M amyloidosis ABeta2M amyloidosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019441 MONDO:0007100 False ATTRV122I amyloidosis familial amyloid neuropathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019441 MONDO:0016340 False ATTRV122I amyloidosis familial restrictive cardiomyopathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019443 MONDO:0000153 False dextro-looped transposition of the great arteries transposition of the great arteries UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019443 MONDO:0003847 False dextro-looped transposition of the great arteries hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0019443 MONDO:0005453 False dextro-looped transposition of the great arteries congenital heart disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0019444 MONDO:0005745 False trichinellosis Enoplea infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019444 MONDO:0016128 False trichinellosis parasitic myositis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019445 MONDO:0021539 False trichofolliculoma hamartoma of skin appendage UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019446 MONDO:0018432 False localized lichen myxedematosus lichen myxedematosus UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019447 MONDO:0018432 False atypical lichen myxedematosus lichen myxedematosus UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019448 MONDO:0000160 False benign adult familial myoclonic epilepsy epilepsy, familial adult myoclonic UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019448 MONDO:0020073 False benign adult familial myoclonic epilepsy adolescent-onset epilepsy syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019449 MONDO:0015148 False lissencephaly type 3-familial fetal akinesia sequence syndrome lissencephaly type 3 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019450 MONDO:0018838 False lissencephaly with cerebellar hypoplasia lissencephaly spectrum disorders UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019460 MONDO:0018874 False acute leukemia of ambiguous lineage acute myeloid leukemia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019461 MONDO:0017595 False B-cell prolymphocytic leukemia aggressive B-cell non-Hodgkin lymphoma UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019463 MONDO:0004959 False non-amyloid monoclonal immunoglobulin deposition disease plasma cell neoplasm UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019464 MONDO:0004959 False heavy chain disease plasma cell neoplasm UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0019466 MONDO:0017343 False lymphomatoid granulomatosis Epstein-Barr virus-associated malignant lymphoproliferative disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019466 MONDO:0018905 False lymphomatoid granulomatosis diffuse large B-cell lymphoma UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0019467 MONDO:0015760 False CD4+/CD56+ hematodermic neoplasm T-cell non-Hodgkin lymphoma UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0019467 MONDO:0002898 False CD4+/CD56+ hematodermic neoplasm skin cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0019467 MONDO:0005170 False CD4+/CD56+ hematodermic neoplasm myeloid neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0019468 MONDO:0000430 False T-cell prolymphocytic leukemia mature T-cell and NK-cell non-Hodgkin lymphoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0019468 MONDO:0003537 False T-cell prolymphocytic leukemia precursor T-lymphoblastic lymphoma/leukemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019468 MONDO:0003540 False T-cell prolymphocytic leukemia acute T cell leukemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0019468 MONDO:0004963 False T-cell prolymphocytic leukemia T-cell acute lymphoblastic leukemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019469 MONDO:0000430 False T-cell large granular lymphocyte leukemia mature T-cell and NK-cell non-Hodgkin lymphoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0019469 MONDO:0005046 False T-cell large granular lymphocyte leukemia immune system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0019470 MONDO:0000430 False aggressive NK-cell leukemia mature T-cell and NK-cell non-Hodgkin lymphoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0019470 MONDO:0003537 False aggressive NK-cell leukemia precursor T-lymphoblastic lymphoma/leukemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019470 MONDO:0004805 False aggressive NK-cell leukemia leukocyte disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0019470 MONDO:0004963 False aggressive NK-cell leukemia T-cell acute lymphoblastic leukemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019471 MONDO:0005525 False adult T-cell leukemia/lymphoma T-cell leukemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019471 MONDO:0005801 False adult T-cell leukemia/lymphoma human T-lymphotropic virus 1 infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019471 MONDO:0017341 False adult T-cell leukemia/lymphoma virus associated tumor UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019471 MONDO:0021184 False adult T-cell leukemia/lymphoma deltaretrovirus infections UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019472 MONDO:0017343 False extranodal nasal NK/T cell lymphoma Epstein-Barr virus-associated malignant lymphoproliferative disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019475 MONDO:0000621 False subcutaneous panniculitis-like T-cell lymphoma immune system cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019475 MONDO:0004805 False subcutaneous panniculitis-like T-cell lymphoma leukocyte disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019475 MONDO:0015816 False subcutaneous panniculitis-like T-cell lymphoma indolent primary cutaneous T-cell lymphoma UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019475 MONDO:0100118 False subcutaneous panniculitis-like T-cell lymphoma hereditary skin disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019476 MONDO:0015758 False primary cutaneous peripheral T-cell lymphoma not otherwise specified primary cutaneous T-cell lymphoma UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019480 MONDO:0004380 False Langerhans cell sarcoma dendritic cell sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0019480 MONDO:0020082 False Langerhans cell sarcoma dendritic cell tumor UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019482 MONDO:0020082 False dendritic cell sarcoma not otherwise specified dendritic cell tumor UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019483 MONDO:0005062 False methotrexate-associated lymphoproliferative disorders lymphoma UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0019483 MONDO:0020083 False methotrexate-associated lymphoproliferative disorders immunodeficiency-associated lymphoproliferative disease UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019484 MONDO:0005560 False hypothalamic hamartomas with gelastic seizures brain disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019485 MONDO:0005579 False idiopathic hemiconvulsion-hemiplegia syndrome epilepsy, idiopathic generalized UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019485 MONDO:0020071 False idiopathic hemiconvulsion-hemiplegia syndrome infantile epilepsy syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019485 MONDO:0020072 False idiopathic hemiconvulsion-hemiplegia syndrome childhood-onset epilepsy syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019487 MONDO:0005395 False epilepsy with myoclonic absences movement disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019487 MONDO:0020072 False epilepsy with myoclonic absences childhood-onset epilepsy syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019488 MONDO:0020071 False myoclonic epilepsy in non-progressive encephalopathies infantile epilepsy syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019489 MONDO:0017666 False diffuse palmoplantar keratoderma - acrocyanosis syndrome diffuse palmoplantar keratoderma UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019490 MONDO:0000992 False progressive familial heart block heart conduction disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0019490 MONDO:0003847 False progressive familial heart block hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0019493 MONDO:0021209 False primary adult heart tumor heart neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019494 MONDO:0021209 False primary pediatric heart tumor heart neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019497 MONDO:0005365 False nonsyndromic genetic hearing loss hearing loss disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019497 MONDO:0037940 False nonsyndromic genetic hearing loss inherited auditory system disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019498 MONDO:0002875 False tungiasis parasitic ectoparasitic infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0019498 MONDO:0100120 False tungiasis vector-borne disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019499 MONDO:0017975 False Turner syndrome sex chromosome disorder of sex development UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019499 MONDO:0019852 False Turner syndrome inherited primary ovarian failure UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019500 MONDO:0020539 False extragonadal teratoma extragonadal non-dysgerminomatous germ cell tumor UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019501 MONDO:0006025 False Usher syndrome autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0019499 MONDO:0002254 False Turner syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0019502 MONDO:0000509 False autosomal recessive non-syndromic intellectual disability non-syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0019502 MONDO:0006025 False autosomal recessive non-syndromic intellectual disability autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0019502 MONDO:0017706 False autosomal recessive non-syndromic intellectual disability disorder of carbohydrate transmembrane transport and absorption UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019503 MONDO:0003847 False anterior segment dysgenesis hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0019503 MONDO:0005328 False anterior segment dysgenesis eye disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0019503 MONDO:0021147 False anterior segment dysgenesis disorder of development or morphogenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019504 MONDO:0005328 False superior limbic keratoconjunctivitis eye disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019506 MONDO:0002254 False obesity-colitis-hypothyroidism-cardiac hypertrophy-developmental delay syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019507 MONDO:0003847 False amelogenesis imperfecta hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0019507 MONDO:0004038 False amelogenesis imperfecta dental enamel hypoplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0019508 MONDO:0015161 False van der Woude syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019509 MONDO:0015491 False cutaneous leukocytoclastic angiitis immune complex mediated vasculitis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019512 MONDO:0024239 False congenital heart malformation congenital anomaly of cardiovascular system UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019516 MONDO:0002311 False exudative vitreoretinopathy retinal vascular disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0019516 MONDO:0020248 False exudative vitreoretinopathy vitreoretinal degeneration UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019518 MONDO:0018094 False Waardenburg-Shah syndrome Waardenburg syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019518 MONDO:0021189 False Waardenburg-Shah syndrome intestinal motility disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019518 MONDO:0021635 False Waardenburg-Shah syndrome neurocristopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019521 MONDO:0006543 False centripetalis recessive dystrophic epidermolysis bullosa epidermolysis bullosa dystrophica UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019522 MONDO:0006543 False recessive dystrophic epidermolysis bullosa-generalized other epidermolysis bullosa dystrophica UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019524 MONDO:0015231 False Bartter syndrome type 4 Bartter syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019525 MONDO:0019852 False tetrasomy X inherited primary ovarian failure UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019525 MONDO:0030502 False tetrasomy X tetrasomy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019525 MONDO:0700027 False tetrasomy X chromosome X disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019526 MONDO:0015491 False erythema elevatum diutinum immune complex mediated vasculitis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019527 MONDO:0007179 False undifferentiated connective tissue syndrome autoimmune disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019528 MONDO:0024477 False inflammatory pseudotumor of the liver liver and intrahepatic bile duct neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019529 MONDO:0002545 False radiation myelitis spinal cord disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019530 MONDO:0021002 False non-syndromic syndactyly syndactyly UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019531 MONDO:0003689 False hemolytic anemia due to glutathione reductase deficiency familial hemolytic anemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019531 MONDO:0040566 False hemolytic anemia due to glutathione reductase deficiency inherited glutathione metabolism disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019533 MONDO:0016450 False paroxysmal cold hemoglobinuria autoimmune hemolytic anemia, cold type UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019534 MONDO:0020108 False mixed-type autoimmune hemolytic anemia autoimmune hemolytic anemia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019535 MONDO:0020108 False drug-induced autoimmune hemolytic anemia autoimmune hemolytic anemia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019536 MONDO:0003664 False Shiga toxin-associated hemolytic uremic syndrome hemolytic anemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019536 MONDO:0034103 False Shiga toxin-associated hemolytic uremic syndrome infection-related hemolytic uremic syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019537 MONDO:0002280 False hemoglobin D disease anemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0019538 MONDO:0016541 False Gaisbock syndrome acquired secondary polycythemia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019540 MONDO:0005087 False diffuse alveolar hemorrhage respiratory system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019542 MONDO:0020683 False acute liver failure acute disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019542 MONDO:0100192 False acute liver failure liver failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019543 MONDO:0005099 False acquired aneurysmal subarachnoid hemorrhage subarachnoid hemorrhage UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019544 MONDO:0029000 False cocaine intoxication poisoning UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019545 MONDO:0029000 False systemic monochloroacetate poisoning poisoning UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019547 MONDO:0005093 False Wells syndrome skin disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019548 MONDO:0000426 False autosomal dominant intermediate Charcot-Marie-Tooth disease autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019548 MONDO:0018778 False autosomal dominant intermediate Charcot-Marie-Tooth disease intermediate Charcot-Marie-Tooth disease UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019549 MONDO:0015358 False severe early-onset axonal neuropathy due to MFN2 deficiency hereditary motor and sensory neuropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019550 MONDO:0015358 False hereditary motor and sensory neuropathy with acrodystrophy hereditary motor and sensory neuropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019551 MONDO:0015358 False hereditary motor and sensory neuropathy type 6 hereditary motor and sensory neuropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019552 MONDO:0019194 False centrifugal lipodystrophy localized lipodystrophy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019553 MONDO:0019194 False drug-induced localized lipodystrophy localized lipodystrophy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019554 MONDO:0019194 False idiopathic localized lipodystrophy localized lipodystrophy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019554 MONDO:0700007 False idiopathic localized lipodystrophy idiopathic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019555 MONDO:0006591 False panniculitis and localized lipodystrophy panniculitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019555 MONDO:0019194 False panniculitis and localized lipodystrophy localized lipodystrophy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019556 MONDO:0019194 False pressure-induced localized lipoatrophy localized lipodystrophy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019557 MONDO:0000603 False chilblain lupus autoimmune disorder of cardiovascular system UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0019557 MONDO:0015574 False chilblain lupus chronic cutaneous lupus erythematosus UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019557 MONDO:0019293 False chilblain lupus skin vascular disease UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0019558 MONDO:0015574 False discoid lupus erythematosus chronic cutaneous lupus erythematosus UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019559 MONDO:0015574 False hypertrophic or verrucous lupus erythematosus chronic cutaneous lupus erythematosus UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019560 MONDO:0015574 False lupus erythematosus tumidus chronic cutaneous lupus erythematosus UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019561 MONDO:0006591 False lupus erythematosus panniculitis panniculitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019561 MONDO:0015574 False lupus erythematosus panniculitis chronic cutaneous lupus erythematosus UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019563 MONDO:0016358 False CREST syndrome limited cutaneous systemic sclerosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0019565 MONDO:0002243 False hereditary von Willebrand disease hemorrhagic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0019565 MONDO:0021181 False hereditary von Willebrand disease inherited blood coagulation disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019565 MONDO:0024574 False hereditary von Willebrand disease von Willebrand disease (hereditary or acquired) UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019567 MONDO:0007522 False Ehlers-Danlos syndrome, classic type, 1 Ehlers-Danlos syndrome, classic type UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019568 MONDO:0007522 False Ehlers-Danlos syndrome, classic type, 2 Ehlers-Danlos syndrome, classic type UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019571 MONDO:0000426 False autosomal dominant cutis laxa autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0019571 MONDO:0100237 False autosomal dominant cutis laxa inherited cutis laxa UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019572 MONDO:0006025 False autosomal recessive cutis laxa type 1 autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0019572 MONDO:0100237 False autosomal recessive cutis laxa type 1 inherited cutis laxa UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019573 MONDO:0006025 False autosomal recessive cutis laxa type 2 autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019573 MONDO:0015327 False autosomal recessive cutis laxa type 2 developmental anomaly of metabolic origin UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019573 MONDO:0017355 False autosomal recessive cutis laxa type 2 inborn disorder of proline metabolism UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019573 MONDO:0018230 False autosomal recessive cutis laxa type 2 skeletal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019573 MONDO:0100237 False autosomal recessive cutis laxa type 2 inherited cutis laxa UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019574 MONDO:0018178 False secondary intestinal lymphangiectasia intestinal lymphangiectasia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019575 MONDO:0004907 False hypotrichosis simplex of the scalp alopecia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019576 MONDO:0019316 False telangiectasia macularis eruptiva perstans maculopapular cutaneous mastocytosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019577 MONDO:0019211 False anonychia-onychodystrophy syndrome isolated congenital anonychia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019578 MONDO:0019446 False nodular lichen myxedematosus localized lichen myxedematosus UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019579 MONDO:0019446 False discrete papular lichen myxedematosus localized lichen myxedematosus UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019580 MONDO:0019446 False papular mucinosis of infancy localized lichen myxedematosus UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019581 MONDO:0019446 False acral persistent papular mucinosis localized lichen myxedematosus UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019582 MONDO:0019446 False self-healing papular mucinosis localized lichen myxedematosus UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019583 MONDO:0019447 False localized lichen myxedematosus with mixed features of different subtypes atypical lichen myxedematosus UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019584 MONDO:0019447 False localized lichen myxedematosus with monoclonal gammopathy or systemic symptoms atypical lichen myxedematosus UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019585 MONDO:0019447 False scleromyxedema without monoclonal gammopathy atypical lichen myxedematosus UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019586 MONDO:0016297 False X-linked nonsyndromic hearing loss prelingual non-syndromic genetic hearing loss UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019586 MONDO:0016298 False X-linked nonsyndromic hearing loss postlingual non-syndromic genetic hearing loss UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019586 MONDO:0020768 False X-linked nonsyndromic hearing loss X-linked deafness UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019587 MONDO:0000426 False autosomal dominant nonsyndromic hearing loss autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0019587 MONDO:0016297 False autosomal dominant nonsyndromic hearing loss prelingual non-syndromic genetic hearing loss UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019587 MONDO:0016298 False autosomal dominant nonsyndromic hearing loss postlingual non-syndromic genetic hearing loss UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019588 MONDO:0006025 False hearing loss, autosomal recessive autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0019588 MONDO:0016297 False hearing loss, autosomal recessive prelingual non-syndromic genetic hearing loss UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019588 MONDO:0016298 False hearing loss, autosomal recessive postlingual non-syndromic genetic hearing loss UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019591 MONDO:0013099 False panhypopituitarism combined pituitary hormone deficiencies, genetic form UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019600 MONDO:0015951 False xeroderma pigmentosum hereditary photodermatosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019600 MONDO:0021190 False xeroderma pigmentosum DNA repair disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019603 MONDO:0015159 False osteopenia-myopia-hearing loss-intellectual disability-facial dysmorphism syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019604 MONDO:0004960 False acquired monoclonal Ig light chain-associated Fanconi syndrome monoclonal gammopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019605 MONDO:0019722 False immunotactoid or fibrillary glomerulopathy glomerular disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019606 MONDO:0015923 False simple cryoglobulinemia acquired peripheral neuropathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019607 MONDO:0011429 False unspecified juvenile idiopathic arthritis juvenile idiopathic arthritis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019609 MONDO:0015327 False Zellweger spectrum disorders developmental anomaly of metabolic origin UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019610 MONDO:0001770 False Zollinger-Ellison syndrome gastrin secretion abnormality UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0019610 MONDO:0021058 False Zollinger-Ellison syndrome neoplastic syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019611 MONDO:0003837 False TSH-secreting pituitary adenoma TSH producing pituitary tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019612 MONDO:0003429 False functioning gonadotropic adenoma functioning pituitary gland adenoma UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019613 MONDO:0003603 False non-functioning pituitary adenoma non-functioning pituitary gland neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019614 MONDO:0015127 False pituitary deficiency due to Rathke's pouch cysts pituitary deficiency UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019615 MONDO:0021227 False pituitary dermoid and epidermoid cysts adrenal gland neoplasm UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019617 MONDO:0015127 False pituitary deficiency due to empty sella turcica syndrome pituitary deficiency UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019618 MONDO:0002254 False Sheehan syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0019620 MONDO:0003749 False congenital esophageal diverticulum esophageal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019620 MONDO:0021147 False congenital esophageal diverticulum disorder of development or morphogenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019621 MONDO:0017019 False chronic pneumonitis of infancy interstitial lung disease specific to infancy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019621 MONDO:0021166 False chronic pneumonitis of infancy inflammatory disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019623 MONDO:0010481 False hereditary angioedema angioedema UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0019623 MONDO:0100118 False hereditary angioedema hereditary skin disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019624 MONDO:0010481 False acquired angioedema angioedema UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0019625 MONDO:0003847 False familial thoracic aortic aneurysm and aortic dissection hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019625 MONDO:0005385 False familial thoracic aortic aneurysm and aortic dissection vascular disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019626 MONDO:0005328 False isolated ankyloblepharon filiforme adnatum eye disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019627 MONDO:0001854 False isolated congenital alacrima lacrimal apparatus disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019628 MONDO:0011119 False Rieger anomaly iridogoniodysgenesis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019629 MONDO:0000942 False sclerocornea corneal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0019630 MONDO:0011119 False congenital ectropion uveae iridogoniodysgenesis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019631 MONDO:0004860 False persistent hyperplastic primary vitreous vitreous disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0019631 MONDO:0020247 False persistent hyperplastic primary vitreous congenital vitreoretinal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019632 MONDO:0000314 False Lyme disease primary bacterial infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0019632 MONDO:0021839 False Lyme disease spirochaetales infections UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019632 MONDO:0025294 False Lyme disease tick-borne infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019633 MONDO:0000314 False relapsing fever primary bacterial infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0019633 MONDO:0006681 False relapsing fever Borrelia infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019633 MONDO:0100120 False relapsing fever vector-borne disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019634 MONDO:0018751 False familial nasal acilia hereditary otorhinolaryngologic disease UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019635 MONDO:0008698 False idiopathic achalasia achalasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019635 MONDO:0700007 False idiopathic achalasia idiopathic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019637 MONDO:0005240 False renal hypoplasia kidney disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0019637 MONDO:0021147 False renal hypoplasia disorder of development or morphogenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019638 MONDO:0005240 False renal dysplasia kidney disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019638 MONDO:0021147 False renal dysplasia disorder of development or morphogenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019639 MONDO:0005240 False congenital megacalycosis kidney disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019640 MONDO:0018559 False posterior urethral valve fetal lower urinary tract obstruction UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019641 MONDO:0002462 False Pauci-immune glomerulonephritis glomerulonephritis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019642 MONDO:0017323 False vitamin D-dependent rickets, type 2 hypocalcemic rickets UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019642 MONDO:0024299 False vitamin D-dependent rickets, type 2 vitamin D-dependent rickets UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019643 MONDO:0018638 False transient pseudohypoaldosteronism pseudohypoaldosteronism UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019644 MONDO:0019638 False renal dysplasia, unilateral renal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019645 MONDO:0019638 False renal dysplasia, bilateral renal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019646 MONDO:0019639 False unilateral congenital megacalycosis congenital megacalycosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019647 MONDO:0019639 False congenital bilateral megacalycosis congenital megacalycosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019648 MONDO:0005516 False achondrogenesis osteochondrodysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0019648 MONDO:0019694 False achondrogenesis spondylodysplastic dysplasia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019649 MONDO:0019067 False idiopathic steroid-sensitive nephrotic syndrome with focal segmental hyalinosis idiopathic steroid-sensitive nephrotic syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019650 MONDO:0019067 False idiopathic steroid-sensitive nephrotic syndrome with minimal change idiopathic steroid-sensitive nephrotic syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019651 MONDO:0019067 False idiopathic steroid-sensitive nephrotic syndrome with diffuse mesangial proliferation idiopathic steroid-sensitive nephrotic syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -28517,155 +29395,73 @@ MONDO:0019653 MONDO:0019006 False familial idiopathic steroid-resistant nephroti MONDO:0019654 MONDO:0019006 False familial idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial sclerosis familial idiopathic steroid-resistant nephrotic syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019655 MONDO:0019401 False sporadic idiopathic steroid-resistant nephrotic syndrome with focal segmental hyalinosis sporadic idiopathic steroid-resistant nephrotic syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019656 MONDO:0019401 False sporadic idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial sclerosis sporadic idiopathic steroid-resistant nephrotic syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019659 MONDO:0007043 False Pfeiffer syndrome type 1 Pfeiffer syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019660 MONDO:0007043 False Pfeiffer syndrome type 2 Pfeiffer syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019661 MONDO:0007043 False Pfeiffer syndrome type 3 Pfeiffer syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019662 MONDO:0015461 False short rib-polydactyly syndrome, Majewski type short rib-polydactyly syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019666 MONDO:0000226 False spondyloepimetaphyseal dysplasia, PAPSS2 type mineral metabolism disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019666 MONDO:0019052 False spondyloepimetaphyseal dysplasia, PAPSS2 type inborn errors of metabolism UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0019666 MONDO:0100510 False spondyloepimetaphyseal dysplasia, PAPSS2 type spondyloepimetaphyseal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0019667 MONDO:0016761 False spondyloepiphyseal dysplasia tarda spondyloepiphyseal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0019668 MONDO:0004972 False adenoma of pancreas adenoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019668 MONDO:0021040 False adenoma of pancreas pancreatic neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019669 MONDO:0019648 False hypochondrogenesis achondrogenesis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0019669 MONDO:0022800 False hypochondrogenesis type 2 collagenopathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019670 MONDO:0016240 False ulnar hemimelia hemimelia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019671 MONDO:0016240 False radial hemimelia hemimelia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019672 MONDO:0016240 False fibular hemimelia hemimelia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019673 MONDO:0020927 False postaxial polydactyly type A postaxial polydactyly UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019674 MONDO:0020927 False postaxial polydactyly type B postaxial polydactyly UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019675 MONDO:0100510 False spondyloepimetaphyseal dysplasia with joint laxity spondyloepimetaphyseal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0019676 MONDO:0021004 False brachydactyly type B brachydactyly UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019677 MONDO:0021004 False brachydactyly type E brachydactyly UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019678 MONDO:0021004 False brachydactyly type A5 brachydactyly UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019679 MONDO:0021004 False brachydactyly type A7 brachydactyly UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019680 MONDO:0007653 False genochondromatosis type 2 genochondromatosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019681 MONDO:0009738 False juvenile sialidosis type 2 sialidosis type 2 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019682 MONDO:0009738 False congenital sialidosis type 2 sialidosis type 2 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019685 MONDO:0018230 False FGFR3-related chondrodysplasia skeletal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019690 MONDO:0018230 False filamin-related bone disorder skeletal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019691 MONDO:0018230 False short rib dysplasia skeletal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019694 MONDO:0018230 False spondylodysplastic dysplasia skeletal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019695 MONDO:0018230 False acromelic dysplasia skeletal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019696 MONDO:0005516 False acromesomelic dysplasia osteochondrodysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0019696 MONDO:0018230 False acromesomelic dysplasia skeletal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019698 MONDO:0018230 False bent bone dysplasia skeletal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019701 MONDO:0018230 False chondrodysplasia punctata skeletal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019702 MONDO:0005516 False neonatal osteosclerotic dysplasia osteochondrodysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019702 MONDO:0018230 False neonatal osteosclerotic dysplasia skeletal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019707 MONDO:0018230 False primary osteolysis skeletal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019713 MONDO:0018230 False non-syndromic limb reduction defect skeletal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019716 MONDO:0021147 False overgrowth syndrome disorder of development or morphogenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019719 MONDO:0019755 False congenital anomaly of kidney and urinary tract developmental defect during embryogenesis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019719 MONDO:0100191 False congenital anomaly of kidney and urinary tract inherited kidney disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019722 MONDO:0005240 False glomerular disorder kidney disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019725 MONDO:0007915 False pediatric systemic lupus erythematosus systemic lupus erythematosus UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019726 MONDO:0007407 False type II mixed cryoglobulinemia Cryoglobulinemic vasculitis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019727 MONDO:0007407 False mixed cryoglobulinemia type III Cryoglobulinemic vasculitis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019728 MONDO:0019463 False heavy chain deposition disease non-amyloid monoclonal immunoglobulin deposition disease UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019729 MONDO:0019463 False light and heavy chain deposition disease non-amyloid monoclonal immunoglobulin deposition disease UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019730 MONDO:0019463 False light chain deposition disease non-amyloid monoclonal immunoglobulin deposition disease UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019731 MONDO:0007099 False AApoAI amyloidosis familial visceral amyloidosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019732 MONDO:0007099 False ALys amyloidosis familial visceral amyloidosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019733 MONDO:0007099 False AFib amyloidosis familial visceral amyloidosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019734 MONDO:0018010 False juvenile polymyositis juvenile idiopathic inflammatory myopathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019736 MONDO:0018904 False dense deposit disease primary membranoproliferative glomerulonephritis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019734 MONDO:0019127 False juvenile polymyositis polymyositis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019735 MONDO:0002254 False polymyalgia rheumatica syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0019735 MONDO:0005554 False polymyalgia rheumatica rheumatic disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0019737 MONDO:0001531 False thrombotic microangiopathy blood coagulation disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019738 MONDO:0009335 False atypical hemolytic-uremic syndrome with H factor anomaly hemolytic uremic syndrome, atypical, susceptibility to, 1 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019738 MONDO:0016244 False atypical hemolytic-uremic syndrome with H factor anomaly atypical hemolytic-uremic syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019739 MONDO:0009335 False atypical hemolytic-uremic syndrome with anti-factor H antibodies hemolytic uremic syndrome, atypical, susceptibility to, 1 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019739 MONDO:0016244 False atypical hemolytic-uremic syndrome with anti-factor H antibodies atypical hemolytic-uremic syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019740 MONDO:0001198 False acquired thrombotic thrombocytopenic purpura acquired thrombocytopenia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019741 MONDO:0002473 False familial cystic renal disease cystic kidney disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019741 MONDO:0100191 False familial cystic renal disease inherited kidney disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019742 MONDO:0019005 False late-onset nephronophthisis nephronophthisis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019742 MONDO:0019232 False late-onset nephronophthisis inborn disorder of peptide metabolism UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019745 MONDO:0009067 False cystinuria type A cystinuria UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019746 MONDO:0009067 False cystinuria type B cystinuria UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019751 MONDO:0002254 False autoinflammatory syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019751 MONDO:0005554 False autoinflammatory syndrome rheumatic disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019752 MONDO:0015564 False pediatric Castleman disease Castleman disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019754 MONDO:0015157 False multicentric Castleman disease human herpesvirus 8-related tumor UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019755 MONDO:0021147 False developmental defect during embryogenesis disorder of development or morphogenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019756 MONDO:0016296 False lobar holoprosencephaly holoprosencephaly UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019757 MONDO:0016296 False alobar holoprosencephaly holoprosencephaly UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019759 MONDO:0017919 False epispadias exstrophy-epispadias complex UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019760 MONDO:0015167 False terminal transverse defects of arm amniotic band syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019761 MONDO:0016060 False laryngotracheoesophageal cleft type 1 laryngotracheoesophageal cleft UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019762 MONDO:0016060 False laryngotracheoesophageal cleft type 2 laryngotracheoesophageal cleft UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019763 MONDO:0016060 False laryngotracheoesophageal cleft type 3 laryngotracheoesophageal cleft UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019764 MONDO:0016060 False laryngotracheoesophageal cleft type 4 laryngotracheoesophageal cleft UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019766 MONDO:0010653 False X-linked intellectual disability, Porteous type Renpenning syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019767 MONDO:0010653 False hamel cerebro-palato-cardiac syndrome Renpenning syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019768 MONDO:0010653 False X-linked intellectual disability, Golabi-Ito-hall type Renpenning syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019769 MONDO:0010653 False X-linked intellectual disability, Sutherland-Haan type Renpenning syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019770 MONDO:0016160 False X-linked dominant intellectual disability-epilepsy syndrome X-linked intellectual disability-epilepsy syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019771 MONDO:0000477 False oromandibular dystonia focal dystonia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0019771 MONDO:0015990 False oromandibular dystonia focal, segmental or multifocal dystonia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019772 MONDO:0015990 False blepharospasm-oromandibular dystonia syndrome focal, segmental or multifocal dystonia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019773 MONDO:0017069 False myelomeningocele spina bifida cystica UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019780 MONDO:0019755 False anotia developmental defect during embryogenesis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019780 MONDO:0024623 False anotia otorhinolaryngologic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019782 MONDO:0001411 False humero-ulnar synostosis synostosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019783 MONDO:0005041 False neovascular glaucoma glaucoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0019784 MONDO:0016877 False 12q14 microdeletion syndrome partial deletion of the long arm of chromosome 12 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019786 MONDO:0015159 False severe intellectual disability-epilepsy-anal anomalies-distal phalangeal hypoplasia multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019787 MONDO:0000588 False autoimmune enteropathy autoimmune disorder of gastrointestinal tract UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019787 MONDO:0020598 False autoimmune enteropathy malabsorption syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019788 MONDO:0000448 False non-secreting paraganglioma paraganglioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019789 MONDO:0006591 False cytophagic histiocytic panniculitis panniculitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019789 MONDO:0019296 False cytophagic histiocytic panniculitis subcutaneous tissue disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019791 MONDO:0016798 False recessive mitochondrial ataxia syndrome ataxia neuropathy spectrum UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019791 MONDO:0020044 False recessive mitochondrial ataxia syndrome autosomal recessive metabolic cerebellar ataxia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019792 MONDO:0020380 False autosomal dominant cerebellar ataxia type I autosomal dominant cerebellar ataxia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019793 MONDO:0020380 False autosomal dominant cerebellar ataxia type III autosomal dominant cerebellar ataxia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019794 MONDO:0020380 False autosomal dominant cerebellar ataxia type IV autosomal dominant cerebellar ataxia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019790 MONDO:0002254 False neuroleptic malignant syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0019795 MONDO:0021147 False acalvaria disorder of development or morphogenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019796 MONDO:0015338 False acrocephalosyndactyly syndromic craniosynostosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019796 MONDO:0019054 False acrocephalosyndactyly congenital limb malformation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019797 MONDO:0015483 False acrodysostosis mandibulofacial dysostosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019797 MONDO:0018234 False acrodysostosis dysostosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0019797 MONDO:0018751 False acrodysostosis hereditary otorhinolaryngologic disease UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019797 MONDO:0019695 False acrodysostosis acromelic dysplasia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019799 MONDO:0008296 False hepatoerythropoietic porphyria familial porphyria cutanea tarda UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019801 MONDO:0015128 False acute adrenal insufficiency primary adrenal insufficiency UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019801 MONDO:0020683 False acute adrenal insufficiency acute disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019802 MONDO:0015183 False secondary short bowel syndrome short bowel syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019803 MONDO:0016231 False angioma serpiginosum capillary malformation UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019804 MONDO:0024623 False tracheomalacia otorhinolaryngologic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019805 MONDO:0001240 False twin to twin transfusion syndrome neonatal anemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0019805 MONDO:0005046 False twin to twin transfusion syndrome immune system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0019806 MONDO:0005559 False primary progressive aphasia neurodegenerative disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019807 MONDO:0019512 False mesocardia congenital heart malformation UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019808 MONDO:0017735 False aortic valve atresia congenital aortic valve stenosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019808 MONDO:0005453 False aortic valve atresia congenital heart disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019809 MONDO:0005648 False congenital aortic valve insufficiency aortic valve insufficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019809 MONDO:0021147 False congenital aortic valve insufficiency disorder of development or morphogenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019810 MONDO:0017396 False toxic epidermal necrolysis toxic dermatosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019811 MONDO:0020289 False tricuspid valve agenesis congenital tricuspid malformation UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019813 MONDO:0020289 False congenital tricuspid stenosis congenital tricuspid malformation UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019814 MONDO:0020289 False straddling or overriding tricuspid valve congenital tricuspid malformation UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019815 MONDO:0020289 False accessory tricuspid valve tissue congenital tricuspid malformation UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019817 MONDO:0016582 False congenital mitral valve insufficiency and/or stenosis congenital mitral malformation UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019818 MONDO:0016582 False cleft mitral valve congenital mitral malformation UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019819 MONDO:0019818 False double-orifice mitral valve cleft mitral valve UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019820 MONDO:0019512 False univentricular cardiopathy congenital heart malformation UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019823 MONDO:0020292 False premature closure of the arterial duct congenital anomaly of the great arteries UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019824 MONDO:0015127 False non-acquired pituitary hormone deficiency pituitary deficiency UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019824 MONDO:0015514 False non-acquired pituitary hormone deficiency hereditary endocrine growth disease UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019825 MONDO:0015203 False congenital coronary artery aneurysm coronary artery congenital malformation UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019828 MONDO:0019824 False pituitary stalk interruption syndrome non-acquired pituitary hormone deficiency UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019828 MONDO:0002254 False pituitary stalk interruption syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019829 MONDO:0005385 False congenital anomaly of superior vena cava vascular disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019829 MONDO:0021147 False congenital anomaly of superior vena cava disorder of development or morphogenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019830 MONDO:0005385 False congenital anomaly of the inferior vena cava vascular disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019832 MONDO:0005152 False acquired pituitary hormone deficiency hypopituitarism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019832 MONDO:0015127 False acquired pituitary hormone deficiency pituitary deficiency UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019835 MONDO:0000568 False primary hypophysitis autoimmune disorder of central nervous system UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019835 MONDO:0000569 False primary hypophysitis autoimmune disorder of endocrine system UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019835 MONDO:0019832 False primary hypophysitis acquired pituitary hormone deficiency UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019835 MONDO:0021156 False primary hypophysitis hypophysitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019836 MONDO:0005385 False congenital anomaly of hepatic vein vascular disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019836 MONDO:0021147 False congenital anomaly of hepatic vein disorder of development or morphogenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019838 MONDO:0019835 False adenohypophysitis primary hypophysitis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019838 MONDO:0024468 False adenohypophysitis anterior pituitary gland disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019839 MONDO:0019835 False panhypophysitis primary hypophysitis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019840 MONDO:0015856 False acropectororenal dysplasia syndromic breast hypoplasia/aplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019845 MONDO:0019832 False iatrogenic or traumatic pituitary deficiency acquired pituitary hormone deficiency UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019846 MONDO:0015790 False acquired central diabetes insipidus central diabetes insipidus UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019848 MONDO:0003150 False posterior hypospadias male reproductive system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019848 MONDO:0021147 False posterior hypospadias disorder of development or morphogenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019849 MONDO:0003150 False isolated micropenis male reproductive system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -28676,12 +29472,9 @@ MONDO:0019852 MONDO:0005387 False inherited primary ovarian failure primary ovar MONDO:0019852 MONDO:0015514 False inherited primary ovarian failure hereditary endocrine growth disease UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019854 MONDO:0009043 False thyroid ectopia generalized resistance to thyroid hormone UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019855 MONDO:0009043 False athyreosis generalized resistance to thyroid hormone UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019857 MONDO:0016555 False congenital hypothyroidism due to transplacental passage of maternal TSH-binding inhibitory antibodies transient congenital hypothyroidism due to maternal factor UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019858 MONDO:0018612 False idiopathic congenital hypothyroidism congenital hypothyroidism UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019858 MONDO:0700007 False idiopathic congenital hypothyroidism idiopathic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019860 MONDO:0009043 False thyroid hemiagenesis generalized resistance to thyroid hormone UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019861 MONDO:0009043 False thyroid hypoplasia generalized resistance to thyroid hormone UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019862 MONDO:0018677 False levocardia visceral heterotaxy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019864 MONDO:0030502 False tetrasomy 21 tetrasomy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019864 MONDO:0700124 False tetrasomy 21 chromosome 21 disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019865 MONDO:0700011 False mosaic trisomy 4 chromosome 4 disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -28692,41 +29485,11 @@ MONDO:0019867 MONDO:0043452 False mosaic trisomy 8 chromosome 8, trisomy UNSUPPO MONDO:0019868 MONDO:0700017 False mosaic trisomy 10 chromosome 10 disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019868 MONDO:0700065 False mosaic trisomy 10 trisomy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019869 MONDO:0022759 False mosaic trisomy 22 trisomy 22 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019870 MONDO:0017012 False distal trisomy 1p36 partial duplication of the short arm of chromosome 1 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019871 MONDO:0016939 False distal trisomy 2p partial duplication of the short arm of chromosome 2 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019872 MONDO:0016940 False distal trisomy 3p partial duplication of the short arm of chromosome 3 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019873 MONDO:0016941 False 4p16.3 microduplication syndrome partial duplication of the short arm of chromosome 4 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019873 MONDO:0019716 False 4p16.3 microduplication syndrome overgrowth syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019874 MONDO:0016944 False distal trisomy 7p partial duplication of the short arm of chromosome 7 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019875 MONDO:0007534 False Beckwith-Wiedemann syndrome due to 11p15 microduplication Beckwith-Wiedemann syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019875 MONDO:0016948 False Beckwith-Wiedemann syndrome due to 11p15 microduplication partial duplication of the short arm of chromosome 11 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019876 MONDO:0700015 False 8p inverted duplication/deletion syndrome chromosome 8 disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019877 MONDO:0016953 False distal trisomy 2q partial duplication of the long arm of chromosome 2 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019878 MONDO:0016954 False 3q26 microduplication syndrome partial duplication of the long arm of chromosome 3 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019879 MONDO:0016955 False distal trisomy 4q partial duplication of the long arm of chromosome 4 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019880 MONDO:0016956 False distal trisomy 5q partial trisomy of the long arm of chromosome 5 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019881 MONDO:0016957 False distal trisomy 6q partial duplication of the long arm of chromosome 6 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019882 MONDO:0016959 False distal trisomy 8q partial duplication of the long arm of chromosome 8 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019883 MONDO:0016960 False distal trisomy 9q partial trisomy of the long arm of chromosome 9 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019884 MONDO:0016961 False distal trisomy 10q partial duplication of the long arm of chromosome 10 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019885 MONDO:0022173 False distal trisomy 11q chromosome 11q trisomy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019886 MONDO:0022177 False distal trisomy 13q chromosome 13q trisomy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019887 MONDO:0016966 False distal trisomy 16q partial trisomy of the long arm of chromosome 16 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019888 MONDO:0016970 False distal trisomy 20q partial trisomy of the long arm of chromosome 20 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019889 MONDO:0016972 False distal trisomy 22q partial duplication of the long arm of chromosome 22 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019890 MONDO:0016960 False non-distal trisomy 9q partial trisomy of the long arm of chromosome 9 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019891 MONDO:0020639 False monosomy 22 monosomy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019891 MONDO:0700026 False monosomy 22 chromosome 22 disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019892 MONDO:0016889 False distal monosomy 7p partial deletion of the short arm of chromosome 7 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019893 MONDO:0016897 False distal monosomy 19p13.3 partial deletion of the short arm of chromosome 19 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019895 MONDO:0016903 False distal monosomy 4q partial deletion of the long arm of chromosome 4 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019896 MONDO:0016908 False Kleefstra syndrome due to 9q34 microdeletion partial monosomy of the long arm of chromosome 9 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019896 MONDO:0027407 False Kleefstra syndrome due to 9q34 microdeletion Kleefstra syndrome 1 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019897 MONDO:0016877 False distal monosomy 12q partial deletion of the long arm of chromosome 12 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019898 MONDO:0016912 False distal monosomy 14q partial deletion of the long arm of chromosome 14 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019900 MONDO:0016877 False non-distal monosomy 12q partial deletion of the long arm of chromosome 12 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019902 MONDO:0002254 False monosomy 13q34 syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019902 MONDO:0016911 False monosomy 13q34 partial deletion of the long arm of chromosome 13 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019903 MONDO:0700009 False ring chromosome 2 chromosome 2 disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019903 MONDO:0700091 False ring chromosome 2 ring chromosome disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019904 MONDO:0700010 False ring chromosome 3 chromosome 3 disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -28748,12 +29511,10 @@ MONDO:0019911 MONDO:0700011 False maternal uniparental disomy of chromosome 4 ch MONDO:0019911 MONDO:0700086 False maternal uniparental disomy of chromosome 4 uniparental disomy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019912 MONDO:0700013 False maternal uniparental disomy of chromosome 6 chromosome 6 disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019912 MONDO:0700086 False maternal uniparental disomy of chromosome 6 uniparental disomy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019913 MONDO:0008394 False silver-Russell syndrome due to maternal uniparental disomy of chromosome 7 Silver-Russell syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019913 MONDO:0700014 False silver-Russell syndrome due to maternal uniparental disomy of chromosome 7 chromosome 7 disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019913 MONDO:0700086 False silver-Russell syndrome due to maternal uniparental disomy of chromosome 7 uniparental disomy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019914 MONDO:0700016 False maternal uniparental disomy of chromosome 9 chromosome 9 disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019914 MONDO:0700086 False maternal uniparental disomy of chromosome 9 uniparental disomy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019915 MONDO:0014541 False maternal uniparental disomy of chromosome 14 motor developmental delay due to 14q32.2 paternally expressed gene defect UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019915 MONDO:0700021 False maternal uniparental disomy of chromosome 14 chromosome 14 disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019915 MONDO:0700086 False maternal uniparental disomy of chromosome 14 uniparental disomy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019916 MONDO:0700023 False maternal uniparental disomy of chromosome 16 chromosome 16 disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -28770,163 +29531,96 @@ MONDO:0019921 MONDO:0700013 False paternal uniparental disomy of chromosome 6 ch MONDO:0019921 MONDO:0700086 False paternal uniparental disomy of chromosome 6 uniparental disomy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019922 MONDO:0700014 False paternal uniparental disomy of chromosome 7 chromosome 7 disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019922 MONDO:0700086 False paternal uniparental disomy of chromosome 7 uniparental disomy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019923 MONDO:0007534 False Beckwith-Wiedemann syndrome due to paternal uniparental disomy of chromosome 11 Beckwith-Wiedemann syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019923 MONDO:0700018 False Beckwith-Wiedemann syndrome due to paternal uniparental disomy of chromosome 11 chromosome 11 disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019923 MONDO:0700086 False Beckwith-Wiedemann syndrome due to paternal uniparental disomy of chromosome 11 uniparental disomy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019924 MONDO:0700025 False paternal uniparental disomy of chromosome 20 chromosome 20 disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019924 MONDO:0700086 False paternal uniparental disomy of chromosome 20 uniparental disomy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019925 MONDO:0700086 False paternal uniparental disomy of chromosome 21 uniparental disomy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019925 MONDO:0700124 False paternal uniparental disomy of chromosome 21 chromosome 21 disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019926 MONDO:0019852 False X small rings inherited primary ovarian failure UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019926 MONDO:0700027 False X small rings chromosome X disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019926 MONDO:0700091 False X small rings ring chromosome disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019927 MONDO:0005626 False growth hormone-producing pituitary gland neoplasm epithelial neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019927 MONDO:0017611 False growth hormone-producing pituitary gland neoplasm pituitary tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019928 MONDO:0017975 False 48,XXXY syndrome sex chromosome disorder of sex development UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019928 MONDO:0002254 False 48,XXXY syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019928 MONDO:0030502 False 48,XXXY syndrome tetrasomy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019928 MONDO:0700027 False 48,XXXY syndrome chromosome X disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019929 MONDO:0017975 False 49,XXXXY syndrome sex chromosome disorder of sex development UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019929 MONDO:0002254 False 49,XXXXY syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019929 MONDO:0700027 False 49,XXXXY syndrome chromosome X disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019929 MONDO:0700085 False 49,XXXXY syndrome pentasomy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019930 MONDO:0009384 False Leydig cell hypoplasia due to complete LH resistance Leydig cell hypoplasia, type 1 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019931 MONDO:0009384 False Leydig cell hypoplasia due to partial LH resistance Leydig cell hypoplasia, type 1 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019932 MONDO:0002263 False isolated partial vaginal agenesis female reproductive system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019932 MONDO:0021147 False isolated partial vaginal agenesis disorder of development or morphogenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019933 MONDO:0006793 False acromegaly hyperpituitarism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0019934 MONDO:0019040 False polyploidy chromosomal disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019935 MONDO:0700028 False isochromosome Y chromosome Y disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019938 MONDO:0021147 False anorectal malformation disorder of development or morphogenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019939 MONDO:0005090 False early-onset schizophrenia schizophrenia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019940 MONDO:0015161 False hypertrichosis-acromegaloid facial appearance syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019940 MONDO:0019280 False hypertrichosis-acromegaloid facial appearance syndrome hypertrichosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019941 MONDO:0015364 False hereditary sensory and autonomic neuropathy type 2 hereditary sensory and autonomic neuropathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0019942 MONDO:0003847 False distal arthrogryposis hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0019942 MONDO:0003939 False distal arthrogryposis muscle tissue disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0019942 MONDO:0015225 False distal arthrogryposis arthrogryposis syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019943 MONDO:0002254 False hereditary continuous muscle fiber activity syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019943 MONDO:0005336 False hereditary continuous muscle fiber activity myopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019944 MONDO:0015924 False Eisenmenger syndrome pulmonary arterial hypertension UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019944 MONDO:0002254 False Eisenmenger syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019945 MONDO:0005093 False solar urticaria skin disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019946 MONDO:0002314 False ligneous conjunctivitis chronic conjunctivitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019947 MONDO:0020704 False rippling muscle disease 2 inherited rippling muscle disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019948 MONDO:0019952 False reducing body myopathy congenital myopathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0019949 MONDO:0100084 False zebra body myopathy alpha-actinopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019950 MONDO:0002320 False congenital muscular dystrophy congenital nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0019950 MONDO:0020121 False congenital muscular dystrophy muscular dystrophy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0019951 MONDO:0016187 False rigid spine syndrome qualitative or quantitative defects of desmin UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019951 MONDO:0016197 False rigid spine syndrome qualitative or quantitative defects of selenoprotein N1 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019951 MONDO:0019950 False rigid spine syndrome congenital muscular dystrophy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019952 MONDO:0005336 False congenital myopathy myopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0019952 MONDO:0700223 False congenital myopathy hereditary skeletal muscle disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019953 MONDO:0020134 False mega-cisterna magna cystic malformation of the posterior fossa UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019955 MONDO:0019954 False GRFoma pancreatic neuroendocrine tumor UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019956 MONDO:0005156 False encephalitis encephalomyelitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0019956 MONDO:0020683 False encephalitis acute disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019957 MONDO:0019954 False PPoma pancreatic neuroendocrine tumor UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019960 MONDO:0019954 False VIPoma pancreatic neuroendocrine tumor UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019963 MONDO:0002807 False bronchial endocrine tumor bronchial neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019963 MONDO:0019496 False bronchial endocrine tumor neuroendocrine neoplasm UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019964 MONDO:0005197 False thymic neuroendocrine tumor thymus neoplasm UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019964 MONDO:0019496 False thymic neuroendocrine tumor neuroendocrine neoplasm UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019967 MONDO:0018381 False Kienbock disease osteochondrosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019969 MONDO:0018381 False panner disease osteochondrosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019970 MONDO:0018381 False Sinding-Larsen-Johansson disease osteochondrosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019971 MONDO:0006424 False melanoma of soft tissue soft tissue neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019972 MONDO:0001256 False dural sinus malformation arteriovenous hemangioma/malformation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019973 MONDO:0005283 False persistent placoid maculopathy retinal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019975 MONDO:0005093 False pellagra skin disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0019975 MONDO:0006873 False pellagra nutritional deficiency disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0019976 MONDO:0001627 False dementia pugilistica dementia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0019977 MONDO:0001627 False parkinsonism with dementia of Guadeloupe dementia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019977 MONDO:0021095 False parkinsonism with dementia of Guadeloupe parkinsonian disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019978 MONDO:0015160 False Robinow syndrome multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019978 MONDO:0018230 False Robinow syndrome skeletal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019979 MONDO:0019637 False renal hypoplasia, unilateral renal hypoplasia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019980 MONDO:0019637 False renal hypoplasia, bilateral renal hypoplasia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019981 MONDO:0015988 False unilateral multicystic dysplastic kidney multicystic dysplastic kidney UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019982 MONDO:0015988 False bilateral multicystic dysplastic kidney multicystic dysplastic kidney UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019983 MONDO:0021163 False multiloculated renal cyst kidney neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019984 MONDO:0017609 False renal tubular dysgenesis due to twin-twin transfusion renal tubular dysgenesis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019985 MONDO:0017609 False drug-related renal tubular dysgenesis renal tubular dysgenesis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019986 MONDO:0019401 False sporadic idiopathic steroid-resistant nephrotic syndrome with collapsing glomerulopathy sporadic idiopathic steroid-resistant nephrotic syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019988 MONDO:0019641 False pauci-immune glomerulonephritis with ANCA Pauci-immune glomerulonephritis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019989 MONDO:0019641 False pauci-immune glomerulonephritis without ANCA Pauci-immune glomerulonephritis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019990 MONDO:0019605 False non-amyloid fibrillary glomerulopathy immunotactoid or fibrillary glomerulopathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019991 MONDO:0019605 False immunotactoid glomerulopathy immunotactoid or fibrillary glomerulopathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019992 MONDO:0004689 False pseudohypoparathyroidism inborn metal metabolism disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0019992 MONDO:0015327 False pseudohypoparathyroidism developmental anomaly of metabolic origin UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019992 MONDO:0015962 False pseudohypoparathyroidism inherited renal tubular disease UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019992 MONDO:0016165 False pseudohypoparathyroidism hereditary hypoparathyroidism UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019991 MONDO:0002462 False immunotactoid glomerulopathy glomerulonephritis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019993 MONDO:0005240 False congenital renal artery stenosis kidney disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019993 MONDO:0005385 False congenital renal artery stenosis vascular disorder UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019994 MONDO:0700020 False maternal uniparental disomy of chromosome 13 chromosome 13 disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019994 MONDO:0700086 False maternal uniparental disomy of chromosome 13 uniparental disomy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019995 MONDO:0016412 False peripheral resistance to thyroid hormones peripheral hypothyroidism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020001 MONDO:0005087 False respiratory or thoracic malformation respiratory system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020007 MONDO:0020292 False absence of the pulmonary artery congenital anomaly of the great arteries UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020010 MONDO:0005071 False infectious disorder of the nervous system nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020010 MONDO:0005550 False infectious disorder of the nervous system infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020022 MONDO:0005071 False central nervous system malformation nervous system disorder UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020022 MONDO:0019755 False central nervous system malformation developmental defect during embryogenesis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020043 MONDO:0015244 False autosomal recessive congenital cerebellar ataxia autosomal recessive cerebellar ataxia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020044 MONDO:0015244 False autosomal recessive metabolic cerebellar ataxia autosomal recessive cerebellar ataxia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020046 MONDO:0015244 False autosomal recessive degenerative and progressive cerebellar ataxia autosomal recessive cerebellar ataxia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020047 MONDO:0015244 False autosomal recessive syndromic cerebellar ataxia autosomal recessive cerebellar ataxia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020048 MONDO:0005385 False internal carotid agenesis vascular disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020049 MONDO:0019040 False autosomal anomaly chromosomal disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020058 MONDO:0019040 False gonosome anomaly chromosomal disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020064 MONDO:0016581 False pulmonary valve agenesis conotruncal heart malformations UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020065 MONDO:0044807 False combined dystonia inherited dystonia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020066 MONDO:0002254 False Ehlers-Danlos syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0020066 MONDO:0003847 False Ehlers-Danlos syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0020066 MONDO:0019755 False Ehlers-Danlos syndrome developmental defect during embryogenesis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020067 MONDO:0019956 False infectious encephalitis encephalitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020067 MONDO:0024619 False infectious encephalitis central nervous system infectious disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020068 MONDO:0020067 False postinfectious encephalitis infectious encephalitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020068 MONDO:0021669 False postinfectious encephalitis post-infectious disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020070 MONDO:0015650 False neonatal epilepsy syndrome epilepsy syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020071 MONDO:0015650 False infantile epilepsy syndrome epilepsy syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020072 MONDO:0015650 False childhood-onset epilepsy syndrome epilepsy syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020073 MONDO:0015650 False adolescent-onset epilepsy syndrome epilepsy syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020074 MONDO:0015653 False progressive myoclonus epilepsy monogenic epilepsy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020074 MONDO:0020072 False progressive myoclonus epilepsy childhood-onset epilepsy syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020074 MONDO:0020073 False progressive myoclonus epilepsy adolescent-onset epilepsy syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020074 MONDO:0100036 False progressive myoclonus epilepsy variable age onset epilepsy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0020076 MONDO:0015756 False myeloproliferative neoplasm myeloid hemopathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020077 MONDO:0015756 False myelodysplastic/myeloproliferative disease myeloid hemopathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020082 MONDO:0006247 False dendritic cell tumor histiocytic and dendritic cell neoplasm UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020083 MONDO:0015757 False immunodeficiency-associated lymphoproliferative disease lymphoid hemopathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020087 MONDO:0006573 False hereditary lipodystrophy lipodystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020087 MONDO:0019052 False hereditary lipodystrophy inborn errors of metabolism UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020087 MONDO:0100118 False hereditary lipodystrophy hereditary skin disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020088 MONDO:0020087 False familial partial lipodystrophy hereditary lipodystrophy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020088 MONDO:0021106 False familial partial lipodystrophy laminopathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020089 MONDO:0006504 False acquired lipodystrophy acquired metabolic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020089 MONDO:0006573 False acquired lipodystrophy lipodystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020099 MONDO:0003847 False inherited sideroblastic anemia hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020099 MONDO:0015194 False inherited sideroblastic anemia sideroblastic anemia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020102 MONDO:0003664 False hereditary stomatocytosis hemolytic anemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020108 MONDO:0000602 False autoimmune hemolytic anemia autoimmune disorder of blood UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0020110 MONDO:0005087 False pulmonary agenesis respiratory system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020110 MONDO:0021147 False pulmonary agenesis disorder of development or morphogenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020112 MONDO:0001700 False vitamin B12- and folate-independent constitutional megaloblastic anemia megaloblastic anemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020112 MONDO:0016624 False vitamin B12- and folate-independent constitutional megaloblastic anemia inherited deficiency anemia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020113 MONDO:0015610 False primary acquired red cell aplasia acquired aplastic anemia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020117 MONDO:0100241 False alpha granule disease inherited thrombocytopenia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020119 MONDO:0000508 False X-linked syndromic intellectual disability syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0020119 MONDO:0100284 False X-linked syndromic intellectual disability X-linked intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020120 MONDO:0003939 False skeletal muscle disorder muscle tissue disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020121 MONDO:0019056 False muscular dystrophy neuromuscular disease UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0020121 MONDO:0700223 False muscular dystrophy hereditary skeletal muscle disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020122 MONDO:0016105 False acquired idiopathic inflammatory myopathy acquired skeletal muscle disease UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020122 MONDO:0600023 False acquired idiopathic inflammatory myopathy idiopathic inflammatory myopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020122 MONDO:0700007 False acquired idiopathic inflammatory myopathy idiopathic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020124 MONDO:0019056 False neuromuscular junction disease neuromuscular disease UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0020123 MONDO:0005336 False metabolic myopathy myopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020124 MONDO:0021017 False neuromuscular junction disease synaptopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020127 MONDO:0003847 False hereditary peripheral neuropathy hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020127 MONDO:0005244 False hereditary peripheral neuropathy peripheral neuropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020128 MONDO:0005559 False motor neuron disorder neurodegenerative disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0020128 MONDO:0019056 False motor neuron disorder neuromuscular disease UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0020129 MONDO:0020128 False acquired motor neuron disease motor neuron disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020134 MONDO:0020022 False cystic malformation of the posterior fossa central nervous system malformation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020135 MONDO:0003847 False pontocerebellar hypoplasia hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0020135 MONDO:0020022 False pontocerebellar hypoplasia central nervous system malformation UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020143 MONDO:0005560 False cerebral lipidosis with dementia brain disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0020143 MONDO:0015547 False cerebral lipidosis with dementia hereditary dementia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020143 MONDO:0019245 False cerebral lipidosis with dementia lysosomal lipid storage disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0020153 MONDO:0003382 False cryptophthalmia eyelid disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0020159 MONDO:0001519 False congenital entropion entropion UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -28938,9 +29632,7 @@ MONDO:0020175 MONDO:0020172 False malignant tumor of palpebral epidermis palpebr MONDO:0020175 MONDO:0021313 False malignant tumor of palpebral epidermis eyelid cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020179 MONDO:0020173 False palpebral nevus benign tumor of palpebral epidermis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020183 MONDO:0002235 False neurogenic palpebral tumor eyelid neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020212 MONDO:0018102 False superficial corneal dystrophy corneal dystrophy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020213 MONDO:0018102 False stromal corneal dystrophy corneal dystrophy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0020214 MONDO:0018102 False posterior corneal dystrophy corneal dystrophy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020242 MONDO:0019118 False hereditary macular dystrophy inherited retinal dystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020246 MONDO:0003847 False inherited vitreoretinopathy hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020246 MONDO:0005283 False inherited vitreoretinopathy retinal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020247 MONDO:0002320 False congenital vitreoretinal dysplasia congenital nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -28951,182 +29643,65 @@ MONDO:0020248 MONDO:0024237 False vitreoretinal degeneration inherited neurodege MONDO:0020249 MONDO:0005328 False hereditary optic neuropathy eye disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020250 MONDO:0000426 False autosomal dominant optic atrophy autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020250 MONDO:0004884 False autosomal dominant optic atrophy eye degenerative disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020250 MONDO:0020249 False autosomal dominant optic atrophy hereditary optic neuropathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020250 MONDO:0043878 False autosomal dominant optic atrophy hereditary optic atrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020257 MONDO:0001309 False supranuclear oculomotor palsy oculomotor nerve paralysis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020283 MONDO:0021166 False uveitis inflammatory disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020289 MONDO:0000471 False congenital tricuspid malformation tricuspid valve disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020289 MONDO:0021147 False congenital tricuspid malformation disorder of development or morphogenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020290 MONDO:0003847 False familial atrioventricular septal defect hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0020291 MONDO:0019820 False hypoplastic right heart syndrome univentricular cardiopathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020292 MONDO:0019512 False congenital anomaly of the great arteries congenital heart malformation UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020297 MONDO:0021060 False Noonan syndrome and Noonan-related syndrome RASopathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020291 MONDO:0002254 False hypoplastic right heart syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0020295 MONDO:0005453 False congenital pulmonary veins anomaly congenital heart disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020296 MONDO:0024239 False congenital arteriovenous fistula congenital anomaly of cardiovascular system UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020297 MONDO:0021147 False Noonan syndrome and Noonan-related syndrome disorder of development or morphogenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020297 MONDO:0024573 False Noonan syndrome and Noonan-related syndrome familial hypertrophic cardiomyopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020298 MONDO:0008300 False Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 Prader-Willi syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020298 MONDO:0700022 False Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 chromosome 15 disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020298 MONDO:0700086 False Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 uniparental disomy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020300 MONDO:0002612 False autosomal dominant nocturnal frontal lobe epilepsy frontal lobe epilepsy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0020300 MONDO:0017704 False autosomal dominant nocturnal frontal lobe epilepsy familial partial epilepsy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020301 MONDO:0008300 False Prader-Willi syndrome due to paternal 15q11q13 deletion Prader-Willi syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020301 MONDO:0016913 False Prader-Willi syndrome due to paternal 15q11q13 deletion partial deletion of the long arm of chromosome 15 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020302 MONDO:0007113 False Angelman syndrome due to maternal 15q11q13 deletion Angelman syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020302 MONDO:0016913 False Angelman syndrome due to maternal 15q11q13 deletion partial deletion of the long arm of chromosome 15 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020303 MONDO:0007113 False Angelman syndrome due to paternal uniparental disomy of chromosome 15 Angelman syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020303 MONDO:0700022 False Angelman syndrome due to paternal uniparental disomy of chromosome 15 chromosome 15 disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020303 MONDO:0700086 False Angelman syndrome due to paternal uniparental disomy of chromosome 15 uniparental disomy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020304 MONDO:0019935 False isochromosomy Yp isochromosome Y UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020305 MONDO:0019935 False isochromosomy Yq isochromosome Y UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020307 MONDO:0007558 False benign childhood occipital epilepsy, Panayiotopoulos type benign occipital epilepsy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020308 MONDO:0007558 False benign childhood occipital epilepsy, Gastaut type benign occipital epilepsy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020310 MONDO:0017704 False familial focal epilepsy with variable foci familial partial epilepsy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020310 MONDO:0100036 False familial focal epilepsy with variable foci variable age onset epilepsy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020311 MONDO:0001014 False chronic myelomonocytic leukemia chronic leukemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0020311 MONDO:0020077 False chronic myelomonocytic leukemia myelodysplastic/myeloproliferative disease UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020316 MONDO:0018874 False acute myeloid leukemia with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22) acute myeloid leukemia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020322 MONDO:0004967 False acute biphenotypic leukemia acute lymphoblastic leukemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0020322 MONDO:0017814 False acute biphenotypic leukemia primary bone lymphoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0020326 MONDO:0018897 False lymphomatoid papulosis primary cutaneous CD30+ T-cell lymphoproliferative disease UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020327 MONDO:0009348 False classic Hodgkin lymphoma, nodular sclerosis type classic Hodgkin lymphoma UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020336 MONDO:0000426 False autosomal dominant Emery-Dreifuss muscular dystrophy autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020336 MONDO:0016830 False autosomal dominant Emery-Dreifuss muscular dystrophy Emery-Dreifuss muscular dystrophy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020336 MONDO:0021106 False autosomal dominant Emery-Dreifuss muscular dystrophy laminopathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020337 MONDO:0000577 False congenital dyserythropoietic anemia type 1 congenital anemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020337 MONDO:0019403 False congenital dyserythropoietic anemia type 1 congenital dyserythropoietic anemia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0020338 MONDO:0020113 False adult pure red cell aplasia primary acquired red cell aplasia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020340 MONDO:0017091 False bilateral perisylvian polymicrogyria bilateral polymicrogyria UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020341 MONDO:0002320 False periventricular nodular heterotopia congenital nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0020338 MONDO:0001705 False adult pure red cell aplasia pure red-cell aplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020341 MONDO:0003847 False periventricular nodular heterotopia hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0020341 MONDO:0016292 False periventricular nodular heterotopia nodular neuronal heterotopia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020344 MONDO:0002320 False postsynaptic congenital myasthenic syndrome congenital nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020344 MONDO:0018940 False postsynaptic congenital myasthenic syndrome congenital myasthenic syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020347 MONDO:0020683 False acute inflammatory demyelinating polyradiculoneuropathy acute disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020348 MONDO:0020683 False acute motor and sensory axonal neuropathy acute disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020349 MONDO:0020683 False acute motor axonal neuropathy acute disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020351 MONDO:0020134 False Blake pouch cyst cystic malformation of the posterior fossa UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020352 MONDO:0007803 False multiple system atrophy, parkinsonian type multiple system atrophy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020352 MONDO:0021095 False multiple system atrophy, parkinsonian type parkinsonian disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020354 MONDO:0007350 False coloboma of choroid and retina coloboma, ocular, autosomal dominant UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020355 MONDO:0001476 False coloboma of eye lens coloboma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020356 MONDO:0007350 False coloboma of iris coloboma, ocular, autosomal dominant UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020357 MONDO:0001476 False coloboma of eyelid coloboma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020359 MONDO:0007410 False congenital symblepharon isolated cryptophthalmia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0020360 MONDO:0007410 False complete cryptophthalmia isolated cryptophthalmia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0020361 MONDO:0007410 False partial cryptophthalmia isolated cryptophthalmia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0020362 MONDO:0007946 False inverse Marcus-Gunn phenomenon jaw-winking syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020363 MONDO:0020212 False honey-droplet corneal dystrophy superficial corneal dystrophy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020364 MONDO:0000766 False posterior polymorphous corneal dystrophy corneal endothelial dystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0020364 MONDO:0003847 False posterior polymorphous corneal dystrophy hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0020364 MONDO:0020214 False posterior polymorphous corneal dystrophy posterior corneal dystrophy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020365 MONDO:0020214 False congenital hereditary endothelial dystrophy type I posterior corneal dystrophy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020366 MONDO:0018174 False congenital glaucoma hereditary glaucoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020367 MONDO:0005338 False juvenile open angle glaucoma open-angle glaucoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0020367 MONDO:0018174 False juvenile open angle glaucoma hereditary glaucoma UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020368 MONDO:0005328 False Axenfeld anomaly eye disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020369 MONDO:0018102 False Chandler syndrome corneal dystrophy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0020369 MONDO:0018988 False Chandler syndrome iridocorneal endothelial syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020370 MONDO:0018988 False Cogan-Reese syndrome iridocorneal endothelial syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020371 MONDO:0018988 False essential iris atrophy iridocorneal endothelial syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020372 MONDO:0020379 False early-onset sutural cataract early-onset zonular cataract UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020373 MONDO:0020377 False early-onset anterior polar cataract early-onset partial cataract UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020374 MONDO:0020377 False cerulean cataract early-onset partial cataract UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020376 MONDO:0020379 False early-onset nuclear cataract early-onset zonular cataract UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020377 MONDO:0011060 False early-onset partial cataract early-onset non-syndromic cataract UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020378 MONDO:0013411 False early-onset posterior polar cataract cataract 16 multiple types UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020379 MONDO:0020377 False early-onset zonular cataract early-onset partial cataract UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020380 MONDO:0000426 False autosomal dominant cerebellar ataxia autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0020380 MONDO:0015547 False autosomal dominant cerebellar ataxia hereditary dementia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020380 MONDO:0022687 False autosomal dominant cerebellar ataxia cerebellar degeneration UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0020380 MONDO:0024237 False autosomal dominant cerebellar ataxia inherited neurodegenerative disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020380 MONDO:0100310 False autosomal dominant cerebellar ataxia hereditary cerebellar ataxia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020381 MONDO:0003004 False patterned macular dystrophy macular degeneration UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0020381 MONDO:0018973 False patterned macular dystrophy patterned dystrophy of the retinal pigment epithelium UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020382 MONDO:0018973 False multifocal pattern dystrophy simulating fundus flavimaculatus patterned dystrophy of the retinal pigment epithelium UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020383 MONDO:0018973 False fundus pulverulentus patterned dystrophy of the retinal pigment epithelium UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020384 MONDO:0001982 False Niemann-Pick disease type E Niemann-Pick disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020385 MONDO:0019443 False congenitally uncorrected transposition of the great arteries with coarctation dextro-looped transposition of the great arteries UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020386 MONDO:0018089 False double outlet right ventricle with subaortic or doubly committed ventricular septal defect with pulmonary stenosis double outlet right ventricle UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020387 MONDO:0018089 False double outlet right ventricle with subpulmonary ventricular septal defect double outlet right ventricle UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020388 MONDO:0018089 False double outlet right ventricle with non-committed subpulmonary ventricular septal defect double outlet right ventricle UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020389 MONDO:0020064 False pulmonary valve agenesis-ventricular septal defect-persistent ductus arteriosus syndrome pulmonary valve agenesis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020390 MONDO:0015239 False pulmonary artery coming from patent ductus arteriosus abnormal origin of the pulmonary artery UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020391 MONDO:0015239 False pulmonary artery coming from the aorta abnormal origin of the pulmonary artery UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020393 MONDO:0017727 False discrete fibromuscular subaortic stenosis fixed subaortic stenosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020394 MONDO:0017727 False tunnel subaortic stenosis fixed subaortic stenosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020395 MONDO:0017865 False valvar pulmonary stenosis congenital pulmonary valve stenosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020396 MONDO:0020289 False anomaly of the tricuspid valve chordae congenital tricuspid malformation UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020397 MONDO:0020289 False parachute tricuspid valve congenital tricuspid malformation UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020398 MONDO:0005852 False congenital mitral stenosis mitral valve stenosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020398 MONDO:0042966 False congenital mitral stenosis inherited mitral valve disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020399 MONDO:0019817 False congenital hypoplasia of the mitral valve annulus congenital mitral valve insufficiency and/or stenosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020400 MONDO:0019817 False congenital supravalvular mitral ring congenital mitral valve insufficiency and/or stenosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020401 MONDO:0019817 False congenital unguarded mitral orifice congenital mitral valve insufficiency and/or stenosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020402 MONDO:0019817 False congenital accessory mitral valve tissue congenital mitral valve insufficiency and/or stenosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020403 MONDO:0019817 False congenital mitral valve agenesis congenital mitral valve insufficiency and/or stenosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020404 MONDO:0019817 False shone complex congenital mitral valve insufficiency and/or stenosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020405 MONDO:0019818 False straddling and/or overriding mitral valve cleft mitral valve UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020407 MONDO:0015273 False complete atrioventricular canal-ventricle hypoplasia syndrome complete atrioventricular canal UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020408 MONDO:0015273 False complete atrioventricular canal-tetralogy of fallot syndrome complete atrioventricular canal UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020410 MONDO:0018082 False aorto-right ventricular tunnel aorto-ventricular tunnel UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020411 MONDO:0018082 False aorto-left ventricular tunnel aorto-ventricular tunnel UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020412 MONDO:0020292 False congenital patent ductus arteriosus aneurysm congenital anomaly of the great arteries UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020413 MONDO:0015236 False encircling double aortic arch aortic arch defects UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020414 MONDO:0015236 False persistent fifth aortic arch aortic arch defects UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020415 MONDO:0015236 False Kommerell diverticulum aortic arch defects UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020416 MONDO:0015236 False Neuhauser anomaly aortic arch defects UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020417 MONDO:0015236 False right aortic arch aortic arch defects UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020418 MONDO:0015236 False dysphagia lusoria aortic arch defects UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020419 MONDO:0020292 False pulmonary artery hypoplasia congenital anomaly of the great arteries UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020420 MONDO:0020292 False pulmonary branch stenosis congenital anomaly of the great arteries UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020423 MONDO:0015203 False stenosis or atrophy of the coronary ostium coronary artery congenital malformation UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020425 MONDO:0015203 False abnormal number of coronary ostia coronary artery congenital malformation UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020426 MONDO:0015203 False malposition of the coronary ostium coronary artery congenital malformation UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020427 MONDO:0019512 False Laubry-Pezzi syndrome congenital heart malformation UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020428 MONDO:0019512 False congenital Gerbode defect congenital heart malformation UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020429 MONDO:0015450 False cor triatriatum dexter triatrial heart UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020430 MONDO:0015450 False cor triatriatum sinister triatrial heart UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020431 MONDO:0019512 False juxtaposition of the atrial appendages congenital heart malformation UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020432 MONDO:0019512 False ectasia of the right atrial appendage congenital heart malformation UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020433 MONDO:0019512 False ectasia of the left appendage congenital heart malformation UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020434 MONDO:0006664 False atrial septal defect, ostium secundum type atrial septal defect UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020404 MONDO:0002254 False shone complex syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020435 MONDO:0002254 False atrial septal defect, coronary sinus type syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020435 MONDO:0006664 False atrial septal defect, coronary sinus type atrial septal defect UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020436 MONDO:0006664 False atrial septal defect, sinus venosus type atrial septal defect UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020437 MONDO:0006664 False atrial septal defect, ostium primum type atrial septal defect UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020438 MONDO:0019512 False atrial septal aneurysm congenital heart malformation UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020439 MONDO:0006664 False patent foramen ovale atrial septal defect UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0020440 MONDO:0019829 False persistent left superior vena cava connecting to the left-sided atrium congenital anomaly of superior vena cava UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020441 MONDO:0019829 False right superior vena cava connecting to left-sided atrium congenital anomaly of superior vena cava UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020442 MONDO:0019829 False left superior vena cava persisting to left-sided atrium congenital anomaly of superior vena cava UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020443 MONDO:0019829 False absence of innominate vein congenital anomaly of superior vena cava UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020444 MONDO:0019829 False subaortic course of innominate vein congenital anomaly of superior vena cava UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020445 MONDO:0019829 False agenesis of the superior vena cava congenital anomaly of superior vena cava UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020446 MONDO:0005385 False coronary sinus stenosis vascular disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020446 MONDO:0021147 False coronary sinus stenosis disorder of development or morphogenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020447 MONDO:0005385 False coronary sinus atresia vascular disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020447 MONDO:0021147 False coronary sinus atresia disorder of development or morphogenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020448 MONDO:0019830 False right inferior vena cava connecting to left-sided atrium congenital anomaly of the inferior vena cava UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020449 MONDO:0019830 False persistent eustachian valve congenital anomaly of the inferior vena cava UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020450 MONDO:0019830 False azygos continuation of the inferior vena cava congenital anomaly of the inferior vena cava UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020451 MONDO:0019830 False congenital stenosis of the inferior vena cava congenital anomaly of the inferior vena cava UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020452 MONDO:0019830 False inferior vena cava interruption congenital anomaly of the inferior vena cava UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020453 MONDO:0017705 False congenital partial pulmonary venous return anomaly congenital pulmonary venous return anomaly UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020454 MONDO:0017300 False congenital complete agenesis of pericardium congenital pericardium anomaly UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020455 MONDO:0017300 False congenital partial agenesis of pericardium congenital pericardium anomaly UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020456 MONDO:0017300 False pleuro-pericardial cyst congenital pericardium anomaly UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020457 MONDO:0003664 False 6-phosphogluconate dehydrogenase deficiency hemolytic anemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020458 MONDO:0003689 False hemolytic anemia due to erythrocyte adenosine deaminase overproduction familial hemolytic anemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020458 MONDO:0019236 False hemolytic anemia due to erythrocyte adenosine deaminase overproduction inborn disorder of purine metabolism UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020458 MONDO:0020584 False hemolytic anemia due to erythrocyte adenosine deaminase overproduction anemia due to enzyme disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020459 MONDO:0019050 False unstable hemoglobin disease inherited hemoglobinopathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020460 MONDO:0002243 False acquired von willebrand syndrome hemorrhagic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0020460 MONDO:0020599 False acquired von willebrand syndrome acquired coagulation factor deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020460 MONDO:0024574 False acquired von willebrand syndrome von Willebrand disease (hereditary or acquired) UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020461 MONDO:0003382 False epiblepharon eyelid disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020462 MONDO:0020159 False tarsal kink syndrome congenital entropion UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020463 MONDO:0020161 False isolated congenital ectropion congenital ectropion UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020464 MONDO:0020161 False euryblepharon congenital ectropion UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020465 MONDO:0003382 False congenital eyelid retraction eyelid disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020466 MONDO:0019499 False monosomy X Turner syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020466 MONDO:0020639 False monosomy X monosomy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020466 MONDO:0700027 False monosomy X chromosome X disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020467 MONDO:0020466 False mosaic monosomy X monosomy X UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -29135,54 +29710,30 @@ MONDO:0020468 MONDO:0700086 False paternal uniparental disomy of chromosome 13 u MONDO:0020469 MONDO:0002254 False 48,XYYY syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020469 MONDO:0030502 False 48,XYYY syndrome tetrasomy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020469 MONDO:0700028 False 48,XYYY syndrome chromosome Y disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020470 MONDO:0015161 False 49,XYYYY syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020470 MONDO:0700028 False 49,XYYYY syndrome chromosome Y disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020470 MONDO:0700085 False 49,XYYYY syndrome pentasomy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020472 MONDO:0019499 False Turner syndrome due to structural X chromosome anomalies Turner syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020473 MONDO:0019701 False dappled diaphyseal dysplasia chondrodysplasia punctata UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020474 MONDO:0018230 False cheirospondyloenchondromatosis skeletal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020475 MONDO:0019287 False dermotrichic syndrome ectodermal dysplasia syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020476 MONDO:0017704 False mesial temporal lobe epilepsy with hippocampal sclerosis familial partial epilepsy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020478 MONDO:0016387 False Leber plus disease mitochondrial oxidative phosphorylation disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020479 MONDO:0006793 False pituitary gigantism hyperpituitarism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020479 MONDO:0019927 False pituitary gigantism growth hormone-producing pituitary gland neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020480 MONDO:0004689 False sulfite oxidase deficiency due to molybdenum cofactor deficiency inborn metal metabolism disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0020480 MONDO:0019358 False sulfite oxidase deficiency due to molybdenum cofactor deficiency encephalopathy due to sulfite oxidase deficiency UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020482 MONDO:0018959 False myotonia permanens potassium-aggravated myotonia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020483 MONDO:0018959 False acetazolamide-responsive myotonia potassium-aggravated myotonia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020485 MONDO:0002320 False King-Denborough syndrome congenital nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020485 MONDO:0015160 False King-Denborough syndrome multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020485 MONDO:0100150 False King-Denborough syndrome RYR1-related myopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020488 MONDO:0019037 False atypical progressive supranuclear palsy syndrome progressive supranuclear palsy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020490 MONDO:0700016 False mosaic trisomy 9 chromosome 9 disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020490 MONDO:0700065 False mosaic trisomy 9 trisomy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020491 MONDO:0002320 False subcortical band heterotopia congenital nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0020491 MONDO:0002254 False subcortical band heterotopia syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0020492 MONDO:0100283 False hemimegalencephaly overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020493 MONDO:0021189 False Haddad syndrome intestinal motility disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020494 MONDO:0016910 False oculootodental syndrome partial deletion of the long arm of chromosome 11 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020495 MONDO:0003847 False PEHO-like syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020495 MONDO:0005071 False PEHO-like syndrome nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020496 MONDO:0003847 False familial porencephaly hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0020496 MONDO:0011057 False familial porencephaly cerebrovascular disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0020496 MONDO:0017410 False familial porencephaly porencephaly UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0020497 MONDO:0021055 False Turcot syndrome with polyposis classic familial adenomatous polyposis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020499 MONDO:0005785 False Nipah virus disease henipavirus infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020500 MONDO:0005762 False Marburg hemorrhagic fever Filoviridae infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020500 MONDO:0018087 False Marburg hemorrhagic fever viral hemorrhagic fever UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020501 MONDO:0100120 False Crimean-Congo hemorrhagic fever vector-borne disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020502 MONDO:0005763 False yellow fever Flaviviridae infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020502 MONDO:0018093 False yellow fever arbovirus fever UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020502 MONDO:0100120 False yellow fever vector-borne disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020504 MONDO:0019052 False hereditary recurrent myoglobinuria inborn errors of metabolism UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020505 MONDO:0019046 False ravine syndrome leukodystrophy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020507 MONDO:0800448 False leukoencephalopathy with vanishing white matter 1 leukoencephalopathy with vanishing white matter UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS -MONDO:0020508 MONDO:0017987 False primary syringomyelia syringomyelia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020509 MONDO:0017987 False secondary syringomyelia syringomyelia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020510 MONDO:0020508 False idiopathic syringomyelia primary syringomyelia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020510 MONDO:0700007 False idiopathic syringomyelia idiopathic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020511 MONDO:0017595 False precursor B-cell acute lymphoblastic leukemia aggressive B-cell non-Hodgkin lymphoma UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020512 MONDO:0004967 False precursor T-cell acute lymphoblastic leukemia acute lymphoblastic leukemia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020513 MONDO:0003669 False spermatocytic seminoma testicular seminoma UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0020516 MONDO:0002120 False thymic neuroendocrine carcinoma neuroendocrine carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020516 MONDO:0019964 False thymic neuroendocrine carcinoma thymic neuroendocrine tumor UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020517 MONDO:0005087 False eosinophilic granuloma respiratory system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -29193,65 +29744,52 @@ MONDO:0020521 MONDO:0007525 False Ehlers-Danlos syndrome type 7A Ehlers-Danlos s MONDO:0020522 MONDO:0007525 False Ehlers-Danlos syndrome type 7B Ehlers-Danlos syndrome, arthrochalasis type UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020523 MONDO:0003847 False familial parathyroid adenoma hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020523 MONDO:0006890 False familial parathyroid adenoma parathyroid gland adenoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020526 MONDO:0018872 False acute megakaryoblastic leukemia in down syndrome acute megakaryoblastic leukemia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020527 MONDO:0020528 False ectopic Cushing syndrome ACTH-dependent Cushing syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0020528 MONDO:0006793 False ACTH-dependent Cushing syndrome hyperpituitarism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0020529 MONDO:0018912 False ACTH-independent Cushing syndrome Cushing syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020530 MONDO:0019146 False Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR1 deficiency inherited susceptibility to mycobacterial diseases UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020531 MONDO:0017713 False long chain acyl-CoA dehydrogenase deficiency disorder of fatty acid oxidation and ketogenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020531 MONDO:0024573 False long chain acyl-CoA dehydrogenase deficiency familial hypertrophic cardiomyopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020532 MONDO:0000314 False spirillary rat-bite fever primary bacterial infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0020532 MONDO:0006941 False spirillary rat-bite fever rat-bite fever UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020533 MONDO:0000314 False streptobacillary rat-bite fever primary bacterial infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0020533 MONDO:0001667 False streptobacillary rat-bite fever streptobacillus infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020533 MONDO:0006941 False streptobacillary rat-bite fever rat-bite fever UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020535 MONDO:0017853 False house allergic alveolitis hypersensitivity pneumonitis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020538 MONDO:0018171 False malignant dysgerminomatous germ cell tumor of ovary malignant germ cell tumor of ovary UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020539 MONDO:0018201 False extragonadal non-dysgerminomatous germ cell tumor extragonadal germ cell tumor UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020539 MONDO:0021656 False extragonadal non-dysgerminomatous germ cell tumor nongerminomatous germ cell tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020541 MONDO:0021069 False maligant granulosa cell tumor of ovary malignant endocrine neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020542 MONDO:0018172 False malignant Sertoli-Leydig cell tumor of ovary malignant sex cord stromal tumor of ovary UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020542 MONDO:0036595 False malignant Sertoli-Leydig cell tumor of ovary ovarian Sertoli-Leydig cell tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020543 MONDO:0018172 False theca steroid-producing cell malignant tumor of ovary, not further specified malignant sex cord stromal tumor of ovary UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020544 MONDO:0001881 False streptococcal toxic-shock syndrome toxic shock syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020544 MONDO:0021680 False streptococcal toxic-shock syndrome streptococcal infection UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020545 MONDO:0001881 False staphylococcal toxic-shock syndrome toxic shock syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020545 MONDO:0017592 False staphylococcal toxic-shock syndrome staphylococcal toxemia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020546 MONDO:0020683 False acute graft versus host disease acute disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020548 MONDO:0005328 False ocular pemphigoid eye disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020549 MONDO:0018944 False invasive hydatidiform mole gestational trophoblastic neoplasm UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020550 MONDO:0003578 False gestational choriocarcinoma extragonadal nonseminomatous germ cell tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0020552 MONDO:0005207 False placental site trophoblastic tumor choriocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0020553 MONDO:0015925 False secondary pulmonary hemosiderosis interstitial lung disease UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020554 MONDO:0020553 False Heiner syndrome secondary pulmonary hemosiderosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020558 MONDO:0018993 False autosomal dominant Charcot-Marie-Tooth disease type 2K Charcot-Marie-Tooth disease type 2 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020559 MONDO:0011224 False O'Sullivan-McLeod syndrome monomelic amyotrophy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020560 MONDO:0002217 False atypical teratoid rhabdoid tumor central nervous system sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0020561 MONDO:0005060 False myxoid/round cell liposarcoma liposarcoma UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020567 MONDO:0019092 False apnea of prematurity infantile apnea UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020568 MONDO:0019147 False cutaneous myiasis myiasis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020569 MONDO:0019207 False intermediate DEND syndrome DEND syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020571 MONDO:0019362 False relapsing epidemic typhus epidemic louse-borne typhus UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020572 MONDO:0019369 False complex regional pain syndrome type 2 complex regional pain syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0020572 MONDO:0002254 False complex regional pain syndrome type 2 syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0020573 MONDO:0042489 False inherited disease susceptibility disease susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020574 MONDO:0020539 False central nervous system nongerminomatous germ cell tumor extragonadal non-dysgerminomatous germ cell tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020575 MONDO:0005477 False polymorphic ventricular tachycardia ventricular tachycardia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020576 MONDO:0002406 False cutaneous vasculitis dermatitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020576 MONDO:0018882 False cutaneous vasculitis vasculitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020577 MONDO:0018202 False childhood gonadal germ cell tumor gonadal germ cell tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020579 MONDO:0021166 False mucositis inflammatory disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020582 MONDO:0000636 False benign uterine ligament neoplasm musculoskeletal system benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020582 MONDO:0000644 False benign uterine ligament neoplasm cervical benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020584 MONDO:0002280 False anemia due to enzyme disorder anemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020585 MONDO:0020584 False anemia due to erythrocyte enzyme disorder anemia due to enzyme disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020586 MONDO:0002242 False factor V deficiency coagulation protein disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020587 MONDO:0018660 False factor XI deficiency hemophilia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020590 MONDO:0005113 False mycobacterial infectious disease bacterial infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020592 MONDO:0005087 False disorder of pharynx respiratory system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020592 MONDO:0024623 False disorder of pharynx otorhinolaryngologic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020594 MONDO:0003569 False abducens nerve disorder cranial nerve neuropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020594 MONDO:0003620 False abducens nerve disorder peripheral nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020596 MONDO:0024338 False mucin-producing carcinoma mucinous neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020597 MONDO:0003951 False angiokeratoma of scrotum scrotal hemangioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020597 MONDO:0003954 False angiokeratoma of scrotum angiokeratoma of Fordyce UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020598 MONDO:0005020 False malabsorption syndrome intestinal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020599 MONDO:0002242 False acquired coagulation factor deficiency coagulation protein disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020600 MONDO:0002258 False acute pharyngitis pharyngitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020600 MONDO:0020683 False acute pharyngitis acute disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020601 MONDO:0006009 False mosquito-borne viral encephalitis viral encephalitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020601 MONDO:0100120 False mosquito-borne viral encephalitis vector-borne disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020602 MONDO:0003847 False Simpson-Golabi-Behmel syndrome type 1 hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0020602 MONDO:0010731 False Simpson-Golabi-Behmel syndrome type 1 Simpson-Golabi-Behmel syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020603 MONDO:0010556 False X-linked chondrodysplasia punctata 2 X-linked chondrodysplasia punctata UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0020603 MONDO:0100118 False X-linked chondrodysplasia punctata 2 hereditary skin disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020604 MONDO:0000425 False X-linked dominant disease X-linked disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0020605 MONDO:0000425 False X-linked recessive disease X-linked disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0020606 MONDO:0003847 False sex-linked disease hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020627 MONDO:0015650 False epileptic encephalopathy, infantile or early childhood epilepsy syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020627 MONDO:0015653 False epileptic encephalopathy, infantile or early childhood monogenic epilepsy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -29265,27 +29803,32 @@ MONDO:0020639 MONDO:0700064 False monosomy aneuploidy UNSUPPORTED-MISSING UNSUPP MONDO:0020640 MONDO:0000568 False autoimmune encephalitis autoimmune disorder of central nervous system UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020642 MONDO:0019741 False polycystic kidney disease familial cystic renal disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020645 MONDO:0000426 False autosomal dominant osteopetrosis autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020645 MONDO:0017198 False autosomal dominant osteopetrosis osteopetrosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020646 MONDO:0000462 False ocular adnexal lymphoma eye adnexa disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020646 MONDO:0005586 False ocular adnexal lymphoma head and neck neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020647 MONDO:0003847 False microcephaly, facial dysmorphism, renal agenesis, and ambiguous genitalia syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020648 MONDO:0020068 False rubella encephalitis postinfectious encephalitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020648 MONDO:0021674 False rubella encephalitis post-viral disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020649 MONDO:0004433 False warty carcinoma of the penis papillary carcinoma of the penis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020655 MONDO:0005306 False juvenile ankylosing spondylitis ankylosing spondylitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0020657 MONDO:0017341 False human papillomavirus-related squamous cell carcinoma virus associated tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020658 MONDO:0004010 False infiltrating ureter transitional cell carcinoma infiltrating renal pelvis/ureter urothelial carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020658 MONDO:0004030 False infiltrating ureter transitional cell carcinoma ureter transitional cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0020659 MONDO:0020654 False upper tract urothelial carcinoma renal pelvis/ureter urothelial carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020663 MONDO:0004992 False malignant spindle cell neoplasm cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020666 MONDO:0019338 False Löfgren syndrome sarcoidosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020667 MONDO:0008803 False Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis Antley-Bixler syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0020669 MONDO:0000376 False paranasal sinus cancer respiratory system cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020669 MONDO:0000649 False paranasal sinus cancer sensory system cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020669 MONDO:0002132 False paranasal sinus cancer skull cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020673 MONDO:0000473 False arterial occlusion arterial disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020673 MONDO:0020672 False arterial occlusion vascular occlusion disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020674 MONDO:0005385 False vascular insufficiency disorder vascular disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020675 MONDO:0005020 False ischemic bowel disorder intestinal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020675 MONDO:0005053 False ischemic bowel disorder ischemic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020677 MONDO:0005365 False sudden hearing loss disorder hearing loss disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020677 MONDO:0020683 False sudden hearing loss disorder acute disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020678 MONDO:0005365 False sensorineural hearing loss disorder hearing loss disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020679 MONDO:0005365 False conductive hearing loss disorder hearing loss disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020680 MONDO:0002465 False acute bronchiolitis bronchiolitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020680 MONDO:0020683 False acute bronchiolitis acute disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020681 MONDO:0011142 False Ehlers-Danlos syndrome, musculocontractural type 1 Ehlers-Danlos syndrome, musculocontractural type UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020682 MONDO:0007526 False Ehlers-Danlos syndrome, spondylodysplastic type, 1 Ehlers-Danlos syndrome, spondylodysplastic type UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS @@ -29293,48 +29836,50 @@ MONDO:0020682 MONDO:0800064 False Ehlers-Danlos syndrome, spondylodysplastic typ MONDO:0020683 MONDO:0700096 False acute disease human disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020684 MONDO:0007527 False Ehlers-Danlos syndrome, periodontal type 1 Ehlers-Danlos syndrome, periodontitis type UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020685 MONDO:0004245 False infratentorial ependymal tumor ependymal tumor of brain UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020686 MONDO:0001039 False acute tonsillitis tonsillitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020686 MONDO:0020683 False acute tonsillitis acute disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020687 MONDO:0004245 False supratentorial ependymal tumor ependymal tumor of brain UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020688 MONDO:0005098 False spinal cord ischemia stroke disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020689 MONDO:0001627 False AIDS dementia complex dementia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020689 MONDO:0021674 False AIDS dementia complex post-viral disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020692 MONDO:0010180 False spondylocostal dysostosis 1, autosomal recessive autosomal recessive spondylocostal dysostosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020693 MONDO:0002412 False glycogen storage disease due to liver phosphorylase kinase deficiency disorder of glycogen metabolism UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020693 MONDO:0005154 False glycogen storage disease due to liver phosphorylase kinase deficiency liver disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020695 MONDO:0006497 False hypotonic cerebral palsy cerebral palsy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020696 MONDO:0005066 False vitamin B12 deficiency metabolic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020696 MONDO:0042976 False vitamin B12 deficiency vitamin B deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020703 MONDO:0020076 False erythroid neoplasm myeloproliferative neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020705 MONDO:0020573 False neural tube defects, susceptibility to inherited disease susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020706 MONDO:0002181 False Heberden's node exostosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020707 MONDO:0005365 False central hearing loss hearing loss disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020708 MONDO:0005559 False brachial amyotrophic diplegia neurodegenerative disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020710 MONDO:0021166 False amnionitis inflammatory disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020710 MONDO:0045013 False amnionitis disorder of extraembryonic membrane UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020714 MONDO:0009637 False mitochondrial myopathy, episodic, with optic atrophy and reversible leukoencephalopathy inborn mitochondrial myopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020715 MONDO:0020573 False multiple system atrophy 1, susceptibility to inherited disease susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020716 MONDO:0010132 False familial thyroid dyshormonogenesis 1 familial thyroid dyshormonogenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0020716 MONDO:0045046 False familial thyroid dyshormonogenesis 1 inherited thyroid metabolism disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020717 MONDO:0003847 False autosomal dominant wooly hair hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0020717 MONDO:0008686 False autosomal dominant wooly hair isolated familial wooly hair disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0020718 MONDO:0003847 False congenital short bowel syndrome, autosomal recessive hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020718 MONDO:0014097 False congenital short bowel syndrome, autosomal recessive congenital short bowel syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020720 MONDO:0000044 False X-linked hypophosphatemic rickets hereditary hypophosphatemic rickets UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020720 MONDO:0000425 False X-linked hypophosphatemic rickets X-linked disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020721 MONDO:0000425 False X-linked sideroblastic anemia 1 X-linked disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0020721 MONDO:0017754 False X-linked sideroblastic anemia 1 inborn disorder of porphyrin metabolism UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020722 MONDO:0020573 False nephrolithiasis susceptibility caused by SLC26A1 inherited disease susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020723 MONDO:0009924 False vitamin D-dependent rickets, type 1A vitamin D-dependent rickets, type 1 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020723 MONDO:0800096 False vitamin D-dependent rickets, type 1A abnormal mineralization disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020726 MONDO:0008264 False tubulointerstitial kidney disease, autosomal dominant, 2 autosomal dominant medullary cystic kidney disease with or without hyperuricemia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020725 MONDO:0002280 False anemia due to chronic disorder anemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020727 MONDO:0014471 False combined oxidative phosphorylation deficiency 22 mitochondrial proton-transporting ATP synthase complex deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS MONDO:0020728 MONDO:0009071 False hypouricemia, renal 1 hereditary renal hypouricemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020729 MONDO:0011096 False autosomal recessive agammaglobulinemia 1 autosomal agammaglobulinemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020731 MONDO:0005108 False arbovirus infection viral infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020731 MONDO:0100120 False arbovirus infection vector-borne disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020732 MONDO:0003847 False progeria hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020732 MONDO:0015333 False progeria progeroid syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020733 MONDO:0100521 False proximal symphalangism 1A NOG-related symphalangism spectrum disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020735 MONDO:0003847 False ACTH-independent macronodular adrenal hyperplasia 1 hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0020735 MONDO:0009049 False ACTH-independent macronodular adrenal hyperplasia 1 Cushing syndrome due to macronodular adrenal hyperplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0020736 MONDO:0003847 False uncombable hair syndrome 1 hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020736 MONDO:0008621 False uncombable hair syndrome 1 uncombable hair syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020738 MONDO:0007990 False multiple benign circumferential skin creases on limbs 1 multiple benign circumferential skin creases on limbs UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0020738 MONDO:0100118 False multiple benign circumferential skin creases on limbs 1 hereditary skin disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020740 MONDO:0100162 False ectodermal dysplasia and immunodeficiency 1 IKBKG-related immunodeficiency with or without ectodermal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020741 MONDO:0009945 False pyridoxine-dependent epilepsy caused by ALDH7A1 mutant pyridoxine-dependent epilepsy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020744 MONDO:0000467 False Mobitz type I atrioventricular block second-degree atrioventricular block UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020745 MONDO:0000426 False ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020745 MONDO:0007263 False ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome cardiac rhythm disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020746 MONDO:0009926 False contractures, pterygia, and variable skeletal fusions syndrome 1B autosomal recessive multiple pterygium syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING @@ -29344,6 +29889,7 @@ MONDO:0020756 MONDO:0100254 False migraine, familial hemiplegic, 1 CACNA1A-relat MONDO:0020757 MONDO:0018925 False sporadic hemiplegic migraine familial or sporadic hemiplegic migraine UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020759 MONDO:0020573 False epilepsy, childhood absence, susceptibility to, 1 inherited disease susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020764 MONDO:0700101 False Brown-Pearce carcinoma carcinoma, non-human animal UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020767 MONDO:0005693 False cauda equina syndrome with neurogenic bladder cauda equina syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020768 MONDO:0000425 False X-linked deafness X-linked disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020768 MONDO:0005365 False X-linked deafness hearing loss disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020768 MONDO:0037940 False X-linked deafness inherited auditory system disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -29356,9 +29902,12 @@ MONDO:0020776 MONDO:0021678 False chlamydiaceae infections gram-negative bacteri MONDO:0020779 MONDO:0005172 False cartilage development disorder skeletal system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020779 MONDO:0021147 False cartilage development disorder disorder of development or morphogenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020781 MONDO:0006025 False encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 1 autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020782 MONDO:0002508 False chronic gingivitis gingivitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020785 MONDO:0700080 False capillary malformation-arteriovenous malformation 2 EPHB4-associated vascular malformation spectrum UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020792 MONDO:0003847 False dwarfism with tall vertebrae hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020797 MONDO:0002570 False decompression sickness high pressure neurological syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020800 MONDO:0002562 False demyelinating disease of central nervous system demyelinating disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020805 MONDO:0020799 False benign basal cell neoplasm basal cell neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020805 MONDO:0036976 False benign basal cell neoplasm benign epithelial neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020806 MONDO:0000992 False sinoatrial block heart conduction disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020809 MONDO:0024988 False benign sertoli cell tumor sex cord-stromal benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -29369,18 +29918,17 @@ MONDO:0020815 MONDO:0006328 False dentigerous cyst odontogenic cyst UNSUPPORTED- MONDO:0020816 MONDO:0006580 False miliaria papulosa miliaria UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020817 MONDO:0006580 False miliaria vesiculosa miliaria UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020818 MONDO:0003394 False secondary dentine dental pulp disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020820 MONDO:0000426 False distal arthrogryposis type 2B1 autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0020820 MONDO:0011128 False distal arthrogryposis type 2B1 Sheldon-hall syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0020823 MONDO:0006580 False infantile miliaria miliaria UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020830 MONDO:0005728 False diaphragmitis diaphragm disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020830 MONDO:0021166 False diaphragmitis inflammatory disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020831 MONDO:0005267 False congenital vertebral-cardiac-renal anomalies syndrome heart disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020831 MONDO:0006025 False congenital vertebral-cardiac-renal anomalies syndrome autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020831 MONDO:0015161 False congenital vertebral-cardiac-renal anomalies syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020835 MONDO:0018963 False methemoglobinemia, alpha type hereditary methemoglobinemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020836 MONDO:0020573 False autism, susceptiblity to inherited disease susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020838 MONDO:0005504 False anterior nasal diphtheria diphtheria UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020840 MONDO:0003847 False pulmonary alveolar proteinosis with hypogammaglobulinemia hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020841 MONDO:0100500 False neurodevelopmental disorder with cerebellar atrophy and with or without seizures Mendelian neurodevelopmental disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020843 MONDO:0001217 False pseudomembranous diphtheritic conjunctivitis pseudomembranous conjunctivitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020843 MONDO:0005504 False pseudomembranous diphtheritic conjunctivitis diphtheria UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020847 MONDO:0015802 False intellectual disability, autosomal dominant 58 autosomal dominant non-syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020853 MONDO:0100198 False encephalitis/encephalopathy, mild, with reversible myelin vacuolization Mendelian encephalopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -29392,6 +29940,7 @@ MONDO:0020863 MONDO:0024355 False laryngeal diphtheria respiratory tract infecti MONDO:0020866 MONDO:0004821 False nasopharyngeal diphtheria nasopharyngeal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020866 MONDO:0005504 False nasopharyngeal diphtheria diphtheria UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020866 MONDO:0024355 False nasopharyngeal diphtheria respiratory tract infectious disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020920 MONDO:0005113 False escherichia coli infection bacterial infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020927 MONDO:0011348 False postaxial polydactyly non-syndromic polydactyly UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020937 MONDO:0003847 False contractures, pterygia, and variable skeletal fusions syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020937 MONDO:0017415 False contractures, pterygia, and variable skeletal fusions syndrome multiple pterygium syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -29404,7 +29953,11 @@ MONDO:0020950 MONDO:0043885 False viral eye infection eye infectious disorder UN MONDO:0020959 MONDO:0005838 False Mansonella ozzardi infection mansonelliasis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020959 MONDO:0005943 False Mansonella ozzardi infection Rhabditida infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020971 MONDO:0004277 False gonococcal urethritis gonorrhea UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020971 MONDO:0005297 False gonococcal urethritis urethritis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020974 MONDO:0004382 False laryngeal granuloma laryngeal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020977 MONDO:0005280 False granulomatous prostatitis prostatitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020979 MONDO:0021539 False pilosebaceous hamartoma hamartoma of skin appendage UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020980 MONDO:0020979 False hair nevus pilosebaceous hamartoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020983 MONDO:0005267 False myocardial rupture heart disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020989 MONDO:0019050 False hereditary persistence of fetal hemoglobin inherited hemoglobinopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021002 MONDO:0003847 False syndactyly hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS @@ -29416,27 +29969,25 @@ MONDO:0021003 MONDO:0021147 False polydactyly disorder of development or morphog MONDO:0021004 MONDO:0003847 False brachydactyly hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0021004 MONDO:0005172 False brachydactyly skeletal system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021004 MONDO:0021147 False brachydactyly disorder of development or morphogenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021005 MONDO:0002254 False faciodigitogenital syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0021008 MONDO:8000010 False secondary antiphospholipid syndrome antiphospholipid syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021009 MONDO:0044964 False salivary gland mucoepidermoid carcinoma oral cavity mucoepidermoid carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021010 MONDO:0002656 False skin lymphangiosarcoma skin carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021011 MONDO:0001595 False hereditary progressive chorea without dementia choreatic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021011 MONDO:0003847 False hereditary progressive chorea without dementia hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021012 MONDO:0015979 False susceptibility to visceral leishmaniasis, 1 hereditary predisposition to infections UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021019 MONDO:0017304 False X-linked recessive ocular albinism ocular albinism UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021019 MONDO:0020605 False X-linked recessive ocular albinism X-linked recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021019 MONDO:0043209 False X-linked recessive ocular albinism albinism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021019 MONDO:0700230 False X-linked recessive ocular albinism GPR143-related foveal hypoplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021020 MONDO:0009044 False Crigler-Najjar syndrome type 1 Crigler-Najjar syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021021 MONDO:0015465 False craniodiaphyseal dysplasia, autosomal dominant craniometaphyseal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS -MONDO:0021022 MONDO:0017658 False hereditary hyperekplexia hyperekplexia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021022 MONDO:0019253 False hereditary hyperekplexia metabolic disease involving other neurotransmitter deficiency UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021024 MONDO:0015979 False malaria, susceptibility to hereditary predisposition to infections UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021025 MONDO:0007329 False cirrhosis, familial, with antigenemia cirrhosis, familial UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0021026 MONDO:0005093 False hereditary epidermal appendage anomaly skin disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021029 MONDO:0021026 False hereditary sebaceous gland anomaly hereditary epidermal appendage anomaly UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021032 MONDO:0003382 False herpes zoster with dermatitis of eyelid eyelid disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021032 MONDO:0020950 False herpes zoster with dermatitis of eyelid viral eye infection UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021032 MONDO:0021033 False herpes zoster with dermatitis of eyelid herpes zoster dermatitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021033 MONDO:0005608 False herpes zoster dermatitis varicella zoster infection UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021033 MONDO:0021201 False herpes zoster dermatitis skin infection UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021036 MONDO:0005093 False keratosis pilaris skin disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021052 MONDO:0044995 False parasympathetic paraganglioma parasympathetic nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021053 MONDO:0000473 False carotid body paraganglioma arterial disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021053 MONDO:0021080 False carotid body paraganglioma blood vessel neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -29445,12 +29996,15 @@ MONDO:0021055 MONDO:0021057 False classic familial adenomatous polyposis classic MONDO:0021056 MONDO:0016362 False familial adenomatous polyposis 1 attenuated familial adenomatous polyposis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021058 MONDO:0023370 False neoplastic syndrome neoplastic disease or syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021058 MONDO:0700245 False neoplastic syndrome syndromic disorder of cell proliferation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021061 MONDO:0000426 False neurofibromatosis autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0021060 MONDO:0003847 False RASopathy hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0021061 MONDO:0015356 False neurofibromatosis hereditary neoplastic syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021061 MONDO:0042983 False neurofibromatosis neurocutaneous syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021064 MONDO:0002785 False jugulotympanic paraganglioma skull base neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021064 MONDO:0023603 False jugulotympanic paraganglioma hereditary disorder of connective tissue UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021065 MONDO:0020641 False pleural neoplasm respiratory tract neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021071 MONDO:0020641 False laryngeal neoplasm respiratory tract neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021072 MONDO:0044993 False sympathetic paraganglioma sympathetic nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021073 MONDO:0045054 False paraneoplastic syndrome cancer-related condition UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021073 MONDO:0700245 False paraneoplastic syndrome syndromic disorder of cell proliferation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021074 MONDO:0045024 False precancerous condition cell proliferation disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021075 MONDO:0021074 False neoplastic polyp precancerous condition UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -29463,6 +30017,7 @@ MONDO:0021086 MONDO:0021192 False gingival neoplasm odontogenic neoplasm UNSUPPO MONDO:0021090 MONDO:0003982 False lipid-rich breast carcinoma bilateral breast carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0021091 MONDO:0002533 False papillary cystadenoma papillary adenoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021094 MONDO:0003847 False immunodeficiency disease hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021094 MONDO:0005046 False immunodeficiency disease immune system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021095 MONDO:0003996 False parkinsonian disorder basal ganglia disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0021097 MONDO:0000652 False intraductal breast papilloma integumentary system benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0021100 MONDO:0021350 False breast neoplasm neoplasm of thorax UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -29472,7 +30027,6 @@ MONDO:0021104 MONDO:0004790 False alcoholic fatty liver disease fatty liver dise MONDO:0021104 MONDO:0043693 False alcoholic fatty liver disease alcoholic liver diseases UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021105 MONDO:0013209 False NAFLD1 metabolic dysfunction-associated steatotic liver disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021106 MONDO:0003847 False laminopathy hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021107 MONDO:0003406 False narcolepsy sleep-wake disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0021107 MONDO:0003847 False narcolepsy hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0021108 MONDO:0005156 False meningitis encephalomyelitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021112 MONDO:0005836 False scrotum cancer male reproductive organ cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -29484,7 +30038,11 @@ MONDO:0021124 MONDO:0005047 False female infertility infertility disorder UNSUPP MONDO:0021131 MONDO:0001421 False frontal lobe ependymal tumor frontal lobe neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021131 MONDO:0002731 False frontal lobe ependymal tumor cerebral hemisphere cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021131 MONDO:0004245 False frontal lobe ependymal tumor ependymal tumor of brain UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021132 MONDO:0001741 False tertiary hyperparathyroidism hyperparathyroidism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021133 MONDO:0002241 False acquired factor XIII deficiency factor XIII deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021133 MONDO:0020599 False acquired factor XIII deficiency acquired coagulation factor deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021134 MONDO:0002247 False acquired factor X deficiency factor X deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021134 MONDO:0020599 False acquired factor X deficiency acquired coagulation factor deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021138 MONDO:0000621 False bone marrow cancer immune system cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021138 MONDO:0002129 False bone marrow cancer bone cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021141 MONDO:0021139 False acquired congenital or acquired UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -29506,17 +30064,14 @@ MONDO:0021160 MONDO:0005247 False gonococcal cystitis bacterial urinary tract in MONDO:0021160 MONDO:0006032 False gonococcal cystitis cystitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021161 MONDO:0004277 False gonococcal prostatitis gonorrhea UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021161 MONDO:0005280 False gonococcal prostatitis prostatitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021162 MONDO:0006504 False carotenemia acquired metabolic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0021164 MONDO:0002036 False posthitis penile disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021164 MONDO:0021166 False posthitis inflammatory disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021166 MONDO:0700096 False inflammatory disease human disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021167 MONDO:0005336 False myositis disease myopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0021167 MONDO:0021166 False myositis disease inflammatory disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021171 MONDO:0010979 False Timothy syndrome, classic type Timothy syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021172 MONDO:0010979 False Timothy syndrome, atypical type Timothy syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021175 MONDO:0005608 False herpetic vulvovaginitis varicella zoster infection UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021175 MONDO:0007019 False herpetic vulvovaginitis vulvovaginitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021175 MONDO:0023557 False herpetic vulvovaginitis infective vaginitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021176 MONDO:0016264 False autoimmune hepatitis type 2 autoimmune hepatitis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021177 MONDO:0016264 False autoimmune hepatitis type 3 autoimmune hepatitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021179 MONDO:0005066 False proteostasis deficiencies metabolic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021181 MONDO:0001531 False inherited blood coagulation disorder blood coagulation disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -29531,6 +30086,7 @@ MONDO:0021202 MONDO:0005271 False allergic otitis media allergic disease UNSUPPO MONDO:0021202 MONDO:0005441 False allergic otitis media otitis media UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021203 MONDO:0001212 False serous otitis media non-suppurative otitis media UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021204 MONDO:0005441 False chronic otitis media otitis media UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021205 MONDO:0024623 False disorder of ear otorhinolaryngologic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021206 MONDO:0001212 False chronic non-suppurative otitis media non-suppurative otitis media UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021206 MONDO:0021204 False chronic non-suppurative otitis media chronic otitis media UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021207 MONDO:0005539 False Crohn jejunitis small bowel Crohn disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -29591,6 +30147,7 @@ MONDO:0021364 MONDO:0004335 False neoplasm of oropharynx digestive system disord MONDO:0021367 MONDO:0011996 False leukemia, myeloid, accelerated-phase chronic myelogenous leukemia, BCR-ABL1 positive UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021370 MONDO:0044992 False neoplasm of minor salivary gland mouth mucosa disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021375 MONDO:0002866 False tumor of duodenum duodenal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021377 MONDO:0006572 False hypertrophic lichen planus lichen planus UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021378 MONDO:0000470 False neoplasm of endocardium endocardium disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021379 MONDO:0021381 False neoplasm of epicardium neoplasm of pericardium UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021380 MONDO:0024643 False neoplasm of myocardium myocardial disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -29600,18 +30157,33 @@ MONDO:0021389 MONDO:0005561 False neoplasm of aortic body aortic disorder UNSUPP MONDO:0021389 MONDO:0021080 False neoplasm of aortic body blood vessel neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021389 MONDO:0021350 False neoplasm of aortic body neoplasm of thorax UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021389 MONDO:0043218 False neoplasm of aortic body neurovascular disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021392 MONDO:0005079 False polyp of large intestine polyp UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021392 MONDO:0024634 False polyp of large intestine large intestine disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021394 MONDO:0001433 False polyp of vagina vaginal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021396 MONDO:0002263 False polyp of vulva female reproductive system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021398 MONDO:0001593 False polyp of rectum rectal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021398 MONDO:0021392 False polyp of rectum polyp of large intestine UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021400 MONDO:0003409 False polyp of colon colonic disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021400 MONDO:0021392 False polyp of colon polyp of large intestine UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021404 MONDO:0001735 False polyp of sphenoidal sinus paranasal sinus disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021404 MONDO:0005079 False polyp of sphenoidal sinus polyp UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021404 MONDO:0023369 False polyp of sphenoidal sinus disorder of facial skeleton UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021408 MONDO:0001735 False polyp of frontal sinus paranasal sinus disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021408 MONDO:0005079 False polyp of frontal sinus polyp UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021412 MONDO:0001735 False polyp of maxillary sinus paranasal sinus disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021412 MONDO:0005079 False polyp of maxillary sinus polyp UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021412 MONDO:0006858 False polyp of maxillary sinus mouth disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021412 MONDO:0023369 False polyp of maxillary sinus disorder of facial skeleton UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021416 MONDO:0005079 False polyp of gallbladder polyp UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021416 MONDO:0005281 False polyp of gallbladder gallbladder disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021418 MONDO:0001735 False polyp of ethmoidal sinus paranasal sinus disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021418 MONDO:0005079 False polyp of ethmoidal sinus polyp UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021420 MONDO:0004382 False polyp of vocal cord laryngeal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021420 MONDO:0005079 False polyp of vocal cord polyp UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021424 MONDO:0002531 False hemangiopericytoma of skin skin neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021427 MONDO:0004958 False squamous cell carcinoma of lip oral cavity squamous cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021439 MONDO:0000627 False benign neoplasm of pituitary gland benign endocrine neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0021439 MONDO:0000631 False benign neoplasm of pituitary gland bone benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0021440 MONDO:0000652 False benign neoplasm of skin integumentary system benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021443 MONDO:0000630 False benign neoplasm of lymph node immune system organ benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0021444 MONDO:0024634 False benign neoplasm of large intestine large intestine disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021446 MONDO:0021461 False benign neoplasm of epiglottis benign neoplasm of hypopharynx UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021450 MONDO:0000629 False benign neoplasm of heart cardiovascular organ benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -29621,7 +30193,6 @@ MONDO:0021456 MONDO:0000636 False benign neoplasm of sternum musculoskeletal sys MONDO:0021457 MONDO:0000382 False benign neoplasm of pleura respiratory system benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021459 MONDO:0000634 False benign neoplasm of esophagus thoracic benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021461 MONDO:0000382 False benign neoplasm of hypopharynx respiratory system benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021463 MONDO:0000627 False benign neoplasm of parathyroid gland benign endocrine neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0021465 MONDO:0021464 False benign neoplasm of appendix benign neoplasm of cecum UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021469 MONDO:0021462 False benign neoplasm of anus benign neoplasm of rectum UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021472 MONDO:0000625 False benign neoplasm of scrotum benign male reproductive system neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -29665,14 +30236,15 @@ MONDO:0021522 MONDO:0021580 False benign neoplasm of lower jaw bone neoplasm of MONDO:0021527 MONDO:0000628 False benign neoplasm of meninges central nervous system organ benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021537 MONDO:0005617 False undifferentiated carcinoma of nasopharynx undifferentiated carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021539 MONDO:0002297 False hamartoma of skin appendage epidermal appendage tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021539 MONDO:0006499 False hamartoma of skin appendage hamartoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021540 MONDO:0006499 False hamartoma of lung hamartoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021541 MONDO:0006500 False hemangioma of retina hemangioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021541 MONDO:0021453 False hemangioma of retina benign neoplasm of retina UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021541 MONDO:0043218 False hemangioma of retina neurovascular disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021545 MONDO:0003939 False myomatous neoplasm muscle tissue disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021546 MONDO:0002542 False ependymal tumor of spinal cord spinal cord glioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021546 MONDO:0003266 False ependymal tumor of spinal cord ependymal tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021548 MONDO:0011060 False total early-onset cataract early-onset non-syndromic cataract UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021553 MONDO:0002565 False transverse myelitis myelitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0021559 MONDO:0003664 False non-autoimmune hemolytic anemia hemolytic anemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021562 MONDO:0021166 False omphalitis inflammatory disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021568 MONDO:0005240 False renal tubule disorder kidney disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021569 MONDO:0015151 False Emery-Dreifuss muscular dystrophy 2, autosomal dominant muscular dystrophy, limb-girdle, autosomal dominant UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS @@ -29706,9 +30278,14 @@ MONDO:0021651 MONDO:0018230 False synpolydactyly skeletal dysplasia UNSUPPORTED- MONDO:0021653 MONDO:0002523 False cutaneous focal mucinosis cutaneous mucinosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021654 MONDO:0002523 False diffuse cutaneous mucinosis cutaneous mucinosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021655 MONDO:0002523 False secondary catabolic mucinosis of skin cutaneous mucinosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021658 MONDO:0005385 False vascular ectasia vascular disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021660 MONDO:0005982 False deep seated dermatophytosis tinea infection UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021661 MONDO:0005010 False coronary atherosclerosis coronary artery disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021661 MONDO:0005311 False coronary atherosclerosis atherosclerosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021662 MONDO:0005304 False bile duct neoplasm biliary tract neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021666 MONDO:0005550 False ear infection infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021666 MONDO:0021166 False ear infection inflammatory disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021666 MONDO:0021205 False ear infection disorder of ear UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021667 MONDO:0005244 False neuralgia peripheral neuropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021667 MONDO:0700057 False neuralgia neurological pain disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021669 MONDO:0700096 False post-infectious disorder human disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -29727,11 +30304,14 @@ MONDO:0021698 MONDO:0002494 False alcohol-related disorders substance-related di MONDO:0021699 MONDO:0021698 False alcohol-induced disorders alcohol-related disorders UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021702 MONDO:0001152 False alcohol amnestic disorder amnestic disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021702 MONDO:0021698 False alcohol amnestic disorder alcohol-related disorders UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021718 MONDO:0001824 False polyneuritis polyneuropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021718 MONDO:0002122 False polyneuritis neuritis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021722 MONDO:0002263 False vulvodynia female reproductive system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021722 MONDO:0700057 False vulvodynia neurological pain disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021723 MONDO:0001433 False vaginismus vaginal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021726 MONDO:0009761 False abdominal cystic lymphangioma cystic hygroma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021727 MONDO:0000473 False aberrant subclavian artery arterial disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021736 MONDO:0024278 False proctosigmoiditis proctocolitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021739 MONDO:0006547 False prurigo exanthem UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021742 MONDO:0005550 False puerperal infection infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021742 MONDO:0044013 False puerperal infection puerperal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -29740,11 +30320,15 @@ MONDO:0021745 MONDO:0006909 False psychosocial short stature pituitary dwarfism MONDO:0021746 MONDO:0006032 False pyelocystitis cystitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021746 MONDO:0006938 False pyelocystitis pyelitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021747 MONDO:0005550 False Acanthamoeba infectious disease infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021750 MONDO:0005240 False pyonephrosis kidney disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021752 MONDO:0002254 False Achard-Thiers syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021758 MONDO:0001609 False acquired agranulocytosis agranulocytosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021759 MONDO:0017689 False acquired fructose intolerance disorder of fructose metabolism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021765 MONDO:0005071 False radiculitis nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021765 MONDO:0021166 False radiculitis inflammatory disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021777 MONDO:0006955 False acute rheumatic heart disease rheumatic heart disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021777 MONDO:0020683 False acute rheumatic heart disease acute disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021783 MONDO:0002258 False streptococcal sore throat pharyngitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021783 MONDO:0021680 False streptococcal sore throat streptococcal infection UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021783 MONDO:0024355 False streptococcal sore throat respiratory tract infectious disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021804 MONDO:0005960 False silicotuberculosis silicosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -29769,11 +30353,14 @@ MONDO:0021845 MONDO:0008797 False Aloi Tomasini Isaia syndrome anodontia UNSUPPO MONDO:0021851 MONDO:0004907 False alopecia universalis onychodystrophy vitiligo alopecia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021851 MONDO:0008661 False alopecia universalis onychodystrophy vitiligo vitiligo UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021856 MONDO:0100191 False Alsing syndrome inherited kidney disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021895 MONDO:0002254 False temporomandibular joint dysfunction syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021895 MONDO:0005473 False temporomandibular joint dysfunction syndrome temporomandibular joint disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021895 MONDO:0006862 False temporomandibular joint dysfunction syndrome myofascial pain syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021896 MONDO:0000473 False anterior spinal artery stroke arterial disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021896 MONDO:0020688 False anterior spinal artery stroke spinal cord ischemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021902 MONDO:0005267 False aortopulmonary window heart disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021913 MONDO:0005093 False aquagenic pruritus skin disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021915 MONDO:0002254 False arakawa syndrome 2 syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021915 MONDO:0004736 False arakawa syndrome 2 inborn disorder of amino acid metabolism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021918 MONDO:0002254 False arena syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021921 MONDO:0000942 False Arnold stickler bourne syndrome corneal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -29802,8 +30389,10 @@ MONDO:0021950 MONDO:0006877 False autoimmune oophoritis oophoritis UNSUPPORTED-M MONDO:0021952 MONDO:0002406 False autoimmune progesterone dermatitis dermatitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021952 MONDO:0007179 False autoimmune progesterone dermatitis autoimmune disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021953 MONDO:0002771 False tuberculous fibrosis of lung pulmonary fibrosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021953 MONDO:0006052 False tuberculous fibrosis of lung pulmonary tuberculosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021953 MONDO:0024355 False tuberculous fibrosis of lung respiratory tract infectious disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021957 MONDO:0020376 False autosomal recessive nonsyndromic congenital nuclear cataract early-onset nuclear cataract UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021960 MONDO:0001926 False ureteritis ureteral disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021960 MONDO:0021166 False ureteritis inflammatory disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021962 MONDO:0002254 False baetz-greenwalt syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021964 MONDO:0002254 False bagatelle Cassidy syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -29812,6 +30401,7 @@ MONDO:0021964 MONDO:0016608 False bagatelle Cassidy syndrome megalencephaly UNSU MONDO:0021966 MONDO:0001150 False baker Vinters syndrome hydrocephalus UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021966 MONDO:0002254 False baker Vinters syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021969 MONDO:0002254 False Banti syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021977 MONDO:0006499 False basaloid follicular hamartoma hamartoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021979 MONDO:0002884 False Basaran Yilmaz syndrome nail disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021979 MONDO:0003037 False Basaran Yilmaz syndrome hypotrichosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021994 MONDO:0021004 False Berk-Tabatznik syndrome brachydactyly UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -29836,18 +30426,20 @@ MONDO:0022089 MONDO:0002254 False Carnevale hernandez castillo syndrome syndromi MONDO:0022094 MONDO:0002254 False Cartwright Nelson Fryns syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0022096 MONDO:0002407 False pyogenic granuloma capillary hemangioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0022098 MONDO:0002076 False catamenial pneumothorax pneumothorax UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0022103 MONDO:0005280 False chronic prostatitis prostatitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0022113 MONDO:0003847 False central centrifugal cicatricial alopecia hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0022113 MONDO:0004907 False central centrifugal cicatricial alopecia alopecia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0022140 MONDO:0002254 False Charles bonnet syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0022151 MONDO:0005287 False Chitty Hall Webb syndrome developmental disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0022173 MONDO:0016932 False chromosome 11q trisomy partial duplication of chromosome 11 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0022174 MONDO:0017277 False chromosome 12p deletion partial deletion of chromosome 12 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0022177 MONDO:0700029 False chromosome 13q trisomy partial duplication of chromosome 13 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0022178 MONDO:0700020 False chromosome 13q-mosaicism chromosome 13 disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0022196 MONDO:0004966 False chronic erosive gastritis gastritis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0022205 MONDO:0005083 False pustular psoriasis psoriasis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0022208 MONDO:0006816 False crystal arthropathy arthropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0022220 MONDO:0002254 False Parinaud syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0022236 MONDO:0005560 False colpocephaly brain disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0022293 MONDO:0002036 False vascular disorder of penis penile disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0022293 MONDO:0005385 False vascular disorder of penis vascular disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0022308 MONDO:0002254 False corticobasal degeneration disorder syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0022308 MONDO:0024238 False corticobasal degeneration disorder cerebral degeneration UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0022311 MONDO:0007405 False cote katsantoni syndrome Crouzon syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -29864,7 +30456,6 @@ MONDO:0022357 MONDO:0002254 False congenital acardia syndromic disease UNSUPPORT MONDO:0022357 MONDO:0019512 False congenital acardia congenital heart malformation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0022394 MONDO:0006736 False cervical intraepithelial neoplasia dysplasia of cervix UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0022410 MONDO:0005283 False retinal ciliopathy retinal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0022410 MONDO:0005308 False retinal ciliopathy ciliopathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0022417 MONDO:0002254 False alopecia congenita keratosis palmoplantaris syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0022417 MONDO:0019272 False alopecia congenita keratosis palmoplantaris hereditary palmoplantar keratoderma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0022424 MONDO:0002254 False alpha-mannosidosis type 1 syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -29872,14 +30463,14 @@ MONDO:0022424 MONDO:0009561 False alpha-mannosidosis type 1 alpha-mannosidosis U MONDO:0022428 MONDO:0002254 False aluminosis syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0022430 MONDO:0024239 False persistent fetal circulation syndrome congenital anomaly of cardiovascular system UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0022432 MONDO:0019287 False alves Castelo dos Santos syndrome ectodermal dysplasia syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0022435 MONDO:0002254 False Mauriac syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0022453 MONDO:0006499 False angiomyomatous hamartoma hamartoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0022510 MONDO:0002254 False atlanto-axial fusion syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0022513 MONDO:0002254 False atrophoderma of Pierini and Pasini syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0022519 MONDO:0004496 False autoimmune myocarditis myocarditis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0022519 MONDO:0030701 False autoimmune myocarditis autoimmune cardiomyopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0022529 MONDO:0005784 False BK-virus nephropathy hantavirus hemorrhagic fever with renal syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0022535 MONDO:0005269 False autonomic facial cephalgia carotid artery disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0022538 MONDO:0002021 False leukoplakia of gingiva gingival disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0022538 MONDO:0004844 False leukoplakia of gingiva oral mucosa leukoplakia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0022552 MONDO:0007405 False Bazopoulou Kyrkanidou syndrome Crouzon syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0022555 MONDO:0002254 False Beardwell syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0022557 MONDO:0002427 False Behrens Baumann dust syndrome cerebellar disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -29893,7 +30484,6 @@ MONDO:0022612 MONDO:0002254 False Brunsting-Perry syndrome syndromic disease UNS MONDO:0022618 MONDO:0006687 False burning mouth syndrome type 3 burning mouth syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0022633 MONDO:0002254 False camptodactyly joint contractures and facial skeletal dysplasia syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0022634 MONDO:0002254 False camptodactyly vertebral fusion syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0022642 MONDO:0021079 False childhood carcinoid tumor childhood neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0022648 MONDO:0002254 False cardiomyopathy and deafness due to tRNA lysine gene mutation syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0022654 MONDO:0002254 False cardiomyopathy hypogonadism collagenoma syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0022673 MONDO:0022672 False autosomal dominant non-nuclear cataract autosomal dominant cataract UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -29903,19 +30493,18 @@ MONDO:0022712 MONDO:0002254 False oculo digital syndrome syndromic disease UNSUP MONDO:0022715 MONDO:0000115 False Chiari malformation type 3 Chiari malformation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0022716 MONDO:0000115 False Chiari malformation type 4 Chiari malformation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0022723 MONDO:0002254 False chondrodysplasia syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0022735 MONDO:0005262 False choroid plexus cyst central nervous system cyst UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0022736 MONDO:0005275 False occupational lung disease lung disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0022736 MONDO:0100366 False occupational lung disease occupational disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0022737 MONDO:0010557 False choroideremia hypopituitarism choroideremia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0022742 MONDO:0004979 False occupational asthma asthma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0022742 MONDO:0022736 False occupational asthma occupational lung disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0022745 MONDO:0015926 False mixed dust pneumoconiosis pneumoconiosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0022746 MONDO:0700029 False chromosome 13p duplication partial duplication of chromosome 13 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0022749 MONDO:0005093 False non-neoplastic nevus skin disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0022752 MONDO:0016894 False chromosome 16p13.3 deletion syndrome partial deletion of the short arm of chromosome 16 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0022752 MONDO:0019188 False chromosome 16p13.3 deletion syndrome Rubinstein-Taybi syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0022754 MONDO:0016879 False chromosome 17p deletion partial deletion of chromosome 17 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0022755 MONDO:0020639 False chromosome 18 mosaic monosomy monosomy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0022755 MONDO:0700125 False chromosome 18 mosaic monosomy chromosome 18 disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0022756 MONDO:0016866 False chromosome 1q deletion partial deletion of chromosome 1 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0022757 MONDO:0700025 False chromosome 20 trisomy chromosome 20 disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0022757 MONDO:0700065 False chromosome 20 trisomy trisomy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0022758 MONDO:0019891 False chromosome 22, monosome mosaic monosomy 22 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -29924,7 +30513,6 @@ MONDO:0022759 MONDO:0700065 False trisomy 22 trisomy UNSUPPORTED-MISSING UNSUPPO MONDO:0022760 MONDO:0000761 False chromosome 22q deletion syndrome caused by partial chromosomal deletion UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0022761 MONDO:0002254 False chromosome 3 duplication syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0022761 MONDO:0700010 False chromosome 3 duplication syndrome chromosome 3 disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0022762 MONDO:0016869 False chromosome 4 short arm deletion partial deletion of chromosome 4 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0022799 MONDO:0005492 False cold urticaria urticaria UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0022800 MONDO:0002254 False type 2 collagenopathy syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0022800 MONDO:0004603 False type 2 collagenopathy collagenopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -29936,6 +30524,7 @@ MONDO:0022815 MONDO:0002254 False congenital absence of the sternocleidomastoid MONDO:0022825 MONDO:0002254 False congenital cystic eye syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0022839 MONDO:0005109 False congenital human immunodeficiency virus HIV infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0022851 MONDO:0002254 False Dennis-Fairhurst-Moore syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0022859 MONDO:0005267 False cor biloculare heart disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0022901 MONDO:0001409 False Crohn disease of the esophagus esophagitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0022901 MONDO:0005011 False Crohn disease of the esophagus Crohn disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0022904 MONDO:0005576 False cryofibrinogenemia cryoglobulinemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -29957,6 +30546,7 @@ MONDO:0023007 MONDO:0002254 False Drachtman Weinblatt Sitarz syndrome syndromic MONDO:0023007 MONDO:0003225 False Drachtman Weinblatt Sitarz syndrome bone marrow disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0023011 MONDO:0005275 False Wilson-Mikity syndrome lung disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0023013 MONDO:0002254 False Duker-Weiss-Siber syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0023023 MONDO:0004926 False neonatal dacryocystitis dacryocystitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0023035 MONDO:0002254 False Eagle syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0023035 MONDO:0700057 False Eagle syndrome neurological pain disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0023039 MONDO:0024240 False eccrine mucinous carcinoma eccrine carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -29966,7 +30556,6 @@ MONDO:0023050 MONDO:0002254 False ectrodactyly cardiopathy dysmorphism syndromic MONDO:0023054 MONDO:0006496 False klumpke's paralysis palsy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0023059 MONDO:0002254 False Elliott ludman Teebi syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0023069 MONDO:0002254 False enlarged vestibular aqueduct syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0023069 MONDO:0002467 False enlarged vestibular aqueduct syndrome inner ear disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0023069 MONDO:0024654 False enlarged vestibular aqueduct syndrome skull disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0023073 MONDO:0006032 False eosinophilic cryptitis cystitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0023076 MONDO:0006552 False eosinophilic pustular folliculitis folliculitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -29988,7 +30577,9 @@ MONDO:0023153 MONDO:0000369 False tuberculous ascites abdominal tuberculosis UNS MONDO:0023154 MONDO:0002254 False fibromatosis multiple non ossifying syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0023158 MONDO:0000922 False Fitz-Hugh-Curtis syndrome pelvic inflammatory disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0023158 MONDO:0002254 False Fitz-Hugh-Curtis syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0023161 MONDO:0004496 False viral myocarditis myocarditis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0023161 MONDO:0100329 False viral myocarditis primary viral infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0023164 MONDO:0005904 False viral pericarditis pericarditis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0023164 MONDO:0100329 False viral pericarditis primary viral infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0023165 MONDO:0001283 False florid cystic endosalpingiosis of the uterus endosalpingiosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0023165 MONDO:0002654 False florid cystic endosalpingiosis of the uterus uterine disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -29998,7 +30589,6 @@ MONDO:0023176 MONDO:0029000 False formaldehyde poisoning poisoning UNSUPPORTED-M MONDO:0023182 MONDO:0007534 False Franceschini Vardeu Guala syndrome Beckwith-Wiedemann syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0023186 MONDO:0002254 False Fraser Jequier Chen syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0023188 MONDO:0002254 False Freiberg disease syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0023188 MONDO:0018381 False Freiberg disease osteochondrosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0023194 MONDO:0002254 False frints de Smet Fabry Fryns syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0023201 MONDO:0002254 False Fryns Smeets Thiry syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0023203 MONDO:0002254 False Fuchs atrophia gyrata chorioideae et retinae syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -30006,8 +30596,8 @@ MONDO:0023209 MONDO:0009256 False galactorrhoea-hyperprolactinaemia galactorrhea MONDO:0023209 MONDO:0014250 False galactorrhoea-hyperprolactinaemia familial hyperprolactinemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0023212 MONDO:0002254 False Garret-Tripp syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0023214 MONDO:0002254 False gas bloat syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0023227 MONDO:0004782 False gestational diabetes insipidus diabetes insipidus UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0023230 MONDO:0002254 False Ghose-Sachdev-Kumar syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0023232 MONDO:0002815 False giant cell myocarditis acute myocarditis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0023238 MONDO:0006499 False giant mammary hamartoma hamartoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0023243 MONDO:0000426 False glass-chapman-hockley syndrome autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0023243 MONDO:0015469 False glass-chapman-hockley syndrome craniosynostosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -30025,8 +30615,10 @@ MONDO:0023288 MONDO:0002254 False green sandford davison syndrome syndromic dise MONDO:0023305 MONDO:0029000 False heavy metal poisoning poisoning UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0023368 MONDO:0002254 False Ho-Kaufman-McAlister syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0023388 MONDO:0005093 False pityriasis rotunda skin disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0023415 MONDO:0002026 False congenital candidiasis candidiasis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0023419 MONDO:0017355 False hyperprolinemia inborn disorder of proline metabolism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0023483 MONDO:0005550 False infectious myositis infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0023483 MONDO:0021167 False infectious myositis myositis disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0023510 MONDO:0002254 False Jaffer-Beighton syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0023510 MONDO:0008475 False Jaffer-Beighton syndrome spondylolisthesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0023513 MONDO:0009162 False Jeune syndrome situs inversus Ellis-van Creveld syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -30044,6 +30636,8 @@ MONDO:0023543 MONDO:0002254 False Katsantoni-Papadakou-Lagoyanni syndrome syndro MONDO:0023543 MONDO:0002917 False Katsantoni-Papadakou-Lagoyanni syndrome disorder of pilosebaceous unit UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0023551 MONDO:0005240 False C1q nephropathy kidney disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0023554 MONDO:0002329 False acquired testicular failure testicular disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0023557 MONDO:0002234 False infective vaginitis vaginitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0023557 MONDO:0005550 False infective vaginitis infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0023558 MONDO:0002254 False Kocher-debre-Semelaigne syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0023558 MONDO:0003939 False Kocher-debre-Semelaigne syndrome muscle tissue disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0023558 MONDO:0018612 False Kocher-debre-Semelaigne syndrome congenital hypothyroidism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -30065,13 +30659,18 @@ MONDO:0023581 MONDO:0002254 False Kuster syndrome syndromic disease UNSUPPORTED- MONDO:0023581 MONDO:0004747 False Kuster syndrome cleft lip UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0023581 MONDO:0016064 False Kuster syndrome cleft palate UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0023595 MONDO:0002320 False congenital myotonic dystrophy congenital nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0023595 MONDO:0016107 False congenital myotonic dystrophy myotonic dystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0023597 MONDO:0002354 False laryngeal papillomatosis benign laryngeal neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0023597 MONDO:0002363 False laryngeal papillomatosis papilloma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0023599 MONDO:0005516 False mesomelic dysplasia osteochondrodysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0023601 MONDO:0018479 False non-classic congenital adrenal hyperplasia congenital adrenal hyperplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0023603 MONDO:0003847 False hereditary disorder of connective tissue hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0023603 MONDO:0003900 False hereditary disorder of connective tissue connective tissue disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0023605 MONDO:0002254 False Laugier-Hunziker syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0023607 MONDO:0002254 False Laurence-Prosser-Rocker syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0023609 MONDO:0002254 False le Marec-Bracq-Picaud syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0023628 MONDO:0002254 False levator syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0023628 MONDO:0002519 False levator syndrome anus disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0023642 MONDO:0001584 False Weber syndrome ocular motility disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0023646 MONDO:0002406 False lipodermatosclerosis dermatitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0023646 MONDO:0006591 False lipodermatosclerosis panniculitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -30090,23 +30689,21 @@ MONDO:0023809 MONDO:0002254 False Milner-Khallouf-Gibson syndrome syndromic dise MONDO:0023820 MONDO:0002146 False Moebius axonal neuropathy hypogonadism hypogonadism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0023820 MONDO:0008006 False Moebius axonal neuropathy hypogonadism Mobius syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0023833 MONDO:0001280 False multifocal choroiditis choroiditis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0023865 MONDO:0003085 False corneal infection keratitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0023865 MONDO:0016047 False corneal infection endophthalmitis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0023868 MONDO:0005283 False melanoma associated retinopathy retinal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0023880 MONDO:0003847 False WHIM syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0023910 MONDO:0003847 False Martsolf syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0023961 MONDO:0003847 False visceral neuropathy, familial hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0024182 MONDO:0006676 False dry beriberi beriberi UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0024183 MONDO:0005071 False wet beriberi nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0024183 MONDO:0006676 False wet beriberi beriberi UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0024189 MONDO:0003847 False neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0024193 MONDO:0003847 False portal hypertension, noncirrhotic hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0024227 MONDO:0006580 False miliaria pustulosa miliaria UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0024228 MONDO:0006580 False miliaria profunda miliaria UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0024229 MONDO:0006580 False miliaria crystallina miliaria UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0024235 MONDO:0006054 False Brenner tumor reproductive system neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0024237 MONDO:0003847 False inherited neurodegenerative disorder hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0024237 MONDO:0005559 False inherited neurodegenerative disorder neurodegenerative disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0024238 MONDO:0005559 False cerebral degeneration neurodegenerative disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0024238 MONDO:0005560 False cerebral degeneration brain disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0024239 MONDO:0004995 False congenital anomaly of cardiovascular system cardiovascular disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0024239 MONDO:0021147 False congenital anomaly of cardiovascular system disorder of development or morphogenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0024249 MONDO:0006547 False pityriasis lichenoides exanthem UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0024249 MONDO:0006592 False pityriasis lichenoides parapsoriasis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -30114,8 +30711,6 @@ MONDO:0024249 MONDO:0019293 False pityriasis lichenoides skin vascular disease U MONDO:0024250 MONDO:0020683 False acute lichenoid pityriasis acute disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0024250 MONDO:0024249 False acute lichenoid pityriasis pityriasis lichenoides UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0024251 MONDO:0005071 False Minamata disease nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0024252 MONDO:0015653 False global developmental delay-neuro-ophthalmological abnormalities-seizures-intellectual disability syndrome monogenic epilepsy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0024257 MONDO:0020128 False hereditary motor neuron disease motor neuron disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0024257 MONDO:0024237 False hereditary motor neuron disease inherited neurodegenerative disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0024262 MONDO:0024263 False massive neonatal aspiration syndrome neonatal aspiration syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0024263 MONDO:0002254 False neonatal aspiration syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -30131,45 +30726,55 @@ MONDO:0024275 MONDO:0005644 False amebic dysentery amebiasis UNSUPPORTED-MISSING MONDO:0024277 MONDO:0002049 False neonatal thrombocytopenia thrombocytopenia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0024278 MONDO:0005292 False proctocolitis colitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0024278 MONDO:0005538 False proctocolitis proctitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0024279 MONDO:0000918 False chronic endometritis endometritis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0024280 MONDO:0005578 False polyarticular arthritis arthritic joint disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0024281 MONDO:0024280 False juvenile chronic polyarthritis polyarticular arthritis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0024283 MONDO:0006552 False Demodex folliculitis folliculitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0024283 MONDO:0017280 False Demodex folliculitis demodicidosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0024283 MONDO:0021201 False Demodex folliculitis skin infection UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0024283 MONDO:0024610 False Demodex folliculitis parasitic skin disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0024285 MONDO:0019464 False epsilon-heavy chain disease heavy chain disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0024286 MONDO:0000629 False benign blood vessel neoplasm cardiovascular organ benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0024287 MONDO:0024291 False congenital vascular malformation vascular malformation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0024288 MONDO:0024431 False hyperbilirubinemia bilirubin metabolism disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0024290 MONDO:0002025 False enuresis psychiatric disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0024291 MONDO:0005385 False vascular malformation vascular disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0024292 MONDO:0004335 False gastrointestinal polyp digestive system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0024292 MONDO:0005079 False gastrointestinal polyp polyp UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0024294 MONDO:0005093 False skin disorder caused by infection skin disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0024294 MONDO:0005550 False skin disorder caused by infection infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0024295 MONDO:0005113 False skin disease caused by bacterial infection bacterial infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0024295 MONDO:0024294 False skin disease caused by bacterial infection skin disorder caused by infection UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0024298 MONDO:0006873 False vitamin deficiency disorder nutritional deficiency disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0024299 MONDO:0005520 False vitamin D-dependent rickets rickets UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0024300 MONDO:0005520 False hypophosphatemic rickets rickets UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0024301 MONDO:0000226 False acquired mineral metabolism disease mineral metabolism disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0024301 MONDO:0006504 False acquired mineral metabolism disease acquired metabolic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0024302 MONDO:0001191 False internal hirudiniasis hirudiniasis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0024302 MONDO:0044991 False internal hirudiniasis upper digestive tract disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0024303 MONDO:0001191 False external hirudiniasis hirudiniasis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0024304 MONDO:0015947 False ichthyosis vulgaris inherited ichthyosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0024305 MONDO:0005804 False acquired hyperprolactinemia hyperprolactinemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0024305 MONDO:0006504 False acquired hyperprolactinemia acquired metabolic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0024306 MONDO:0006040 False acquired lactic acidosis lactic acidosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0024306 MONDO:0006504 False acquired lactic acidosis acquired metabolic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0024308 MONDO:0002051 False pseudoxanthoma elasticum (inherited or acquired) integumentary system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0024309 MONDO:0019941 False neuropathy, hereditary sensory and autonomic, type 2A hereditary sensory and autonomic neuropathy type 2 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0024310 MONDO:0002322 False angiodysplasia of stomach angiodysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0024310 MONDO:0004298 False angiodysplasia of stomach stomach disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0024311 MONDO:0002129 False cancer affecting bone of limb skeleton bone cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0024313 MONDO:0005113 False staphylococcal infection bacterial infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0024314 MONDO:0005135 False parasitemia parasitic infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0024314 MONDO:0005570 False parasitemia hematologic disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0024315 MONDO:0016047 False parasitic endophthalmitis endophthalmitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0024315 MONDO:0020947 False parasitic endophthalmitis parasitic eye infection UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0024316 MONDO:0003117 False physiological malfunction arising from mental factor somatoform disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0024317 MONDO:0700057 False chronic pain syndrome neurological pain disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0024318 MONDO:0005108 False viral infection of central nervous system viral infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0024318 MONDO:0024619 False viral infection of central nervous system central nervous system infectious disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0024325 MONDO:0002295 False cutaneous glomangiomyoma skin glomus tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0024325 MONDO:0024323 False cutaneous glomangiomyoma glomangiomyoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0024326 MONDO:0002373 False pleural adenomatoid tumor benign mesothelioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0024327 MONDO:0001106 False chronic renal failure syndrome kidney failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0024327 MONDO:0005300 False chronic renal failure syndrome chronic kidney disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0024330 MONDO:0005441 False infectious otitis media otitis media UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0024330 MONDO:0021666 False infectious otitis media ear infection UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0024332 MONDO:0011786 False perennial allergic rhinitis allergic rhinitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0024333 MONDO:0006960 False sciatica sciatic neuropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0024333 MONDO:0021667 False sciatica neuralgia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0024335 MONDO:0005885 False retrobulbar neuritis optic neuritis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -30180,7 +30785,9 @@ MONDO:0024345 MONDO:0006547 False pityriasis streptogenes exanthem UNSUPPORTED-M MONDO:0024346 MONDO:0006547 False pityriasis amiantacea exanthem UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0024349 MONDO:0006547 False pityriasis alba exanthem UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0024350 MONDO:0006547 False pityriasis steatoides exanthem UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0024352 MONDO:0005108 False viral respiratory tract infection viral infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0024352 MONDO:0024355 False viral respiratory tract infection respiratory tract infectious disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0024354 MONDO:0005132 False cytomegalovirus pneumonia cytomegalovirus infection UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0024354 MONDO:0006012 False cytomegalovirus pneumonia viral pneumonia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0024355 MONDO:0005087 False respiratory tract infectious disorder respiratory system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0024355 MONDO:0005550 False respiratory tract infectious disorder infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -30193,7 +30800,6 @@ MONDO:0024360 MONDO:0004731 False central sleep apnea caused by high altitude ce MONDO:0024363 MONDO:0005937 False rapid eye movement sleep disorder REM sleep behavior disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0024363 MONDO:0024361 False rapid eye movement sleep disorder circadian rhythm sleep disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0024376 MONDO:0003406 False sleep disorder, initiating and maintaining sleep sleep-wake disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0024387 MONDO:0024988 False benign ovarian sex cord-stromal tumor sex cord-stromal benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0024388 MONDO:0021679 False Clostridium infectious disease gram-positive bacterial infections UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0024388 MONDO:0024389 False Clostridium infectious disease anaerobic bacteria infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0024389 MONDO:0005113 False anaerobic bacteria infectious disease bacterial infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -30212,6 +30818,8 @@ MONDO:0024417 MONDO:0005071 False perceptual disorders nervous system disorder U MONDO:0024419 MONDO:0002183 False enthesitis enthesopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0024419 MONDO:0021166 False enthesitis inflammatory disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0024422 MONDO:0005084 False auditory perceptual disorders mental disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0024422 MONDO:0021945 False auditory perceptual disorders hearing disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0024429 MONDO:0002254 False Alice in Wonderland syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0024429 MONDO:0021084 False Alice in Wonderland syndrome vision disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0024430 MONDO:0024417 False allesthesia perceptual disorders UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0024431 MONDO:0005066 False bilirubin metabolism disease metabolic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -30221,8 +30829,6 @@ MONDO:0024455 MONDO:0008389 False autosomal dominant Robinow syndrome 1 autosoma MONDO:0024456 MONDO:0002289 False anterior segment dysgenesis 3 iris disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0024456 MONDO:0018174 False anterior segment dysgenesis 3 hereditary glaucoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0024456 MONDO:0100235 False anterior segment dysgenesis 3 FOXC1-related anterior segment dysgenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0024457 MONDO:0017998 False neurodegeneration with brain iron accumulation 2A PLA2G6-associated neurodegeneration UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0024457 MONDO:0020127 False neurodegeneration with brain iron accumulation 2A hereditary peripheral neuropathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0024458 MONDO:0700096 False disorder of visual system human disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0024459 MONDO:0005020 False Aeromonas hydrophila intestinal disease intestinal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0024459 MONDO:0005117 False Aeromonas hydrophila intestinal disease Aeromonas hydrophila infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -30233,11 +30839,16 @@ MONDO:0024468 MONDO:0003381 False anterior pituitary gland disorder pituitary gl MONDO:0024472 MONDO:0005677 False boutonneuse fever Rickettsia conorii infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0024473 MONDO:0005677 False Astrakhan spotted fever Rickettsia conorii infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0024477 MONDO:0002082 False liver and intrahepatic bile duct neoplasm endocrine gland neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0024478 MONDO:0006499 False mesenchymal hamartoma hamartoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0024480 MONDO:0003382 False dermatosis of eyelid eyelid disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0024481 MONDO:0002051 False skin appendage disorder integumentary system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0024482 MONDO:0002090 False eccrine sweat gland hamartoma eccrine sweat gland neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0024482 MONDO:0021539 False eccrine sweat gland hamartoma hamartoma of skin appendage UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0024483 MONDO:0002118 False urothelial hyperplasia urinary system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0024483 MONDO:0005043 False urothelial hyperplasia hyperplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0024485 MONDO:0024483 False papillary urothelial hyperplasia urothelial hyperplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0024487 MONDO:0002884 False nail infection nail disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0024487 MONDO:0005550 False nail infection infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0024489 MONDO:0024488 False general tumor grading characteristic tumor grading characteristic UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0024491 MONDO:0024495 False tumor grade 1, general grading system tumor grade 1 or 2, general grading system UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0024492 MONDO:0024495 False tumor grade 2, general grading system tumor grade 1 or 2, general grading system UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -30245,7 +30856,10 @@ MONDO:0024492 MONDO:0024496 False tumor grade 2, general grading system tumor gr MONDO:0024493 MONDO:0024496 False tumor grade 3, general grading system tumor grade 2 or 3, general grading system UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0024493 MONDO:0024497 False tumor grade 3, general grading system tumor grade 3 or 4, general grading system UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0024494 MONDO:0024497 False tumor grade 4, general grading system tumor grade 3 or 4, general grading system UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0024496 MONDO:0024489 False tumor grade 2 or 3, general grading system general tumor grading characteristic UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0024497 MONDO:0024489 False tumor grade 3 or 4, general grading system general tumor grading characteristic UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0024501 MONDO:0002882 False appendix neuroendocrine neoplasm colon neuroendocrine neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0024504 MONDO:0021535 False enterochromaffin cell serotonin-producing pancreatic neuroendocrine tumor pancreatic neuroendocrine tumor G1 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0024506 MONDO:0019713 False Adams-Oliver syndrome 1 non-syndromic limb reduction defect UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0024512 MONDO:0020573 False spondyloarthropathy, susceptibility to inherited disease susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0024516 MONDO:0006559 False familial acne inversa hidradenitis suppurativa UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -30261,35 +30875,36 @@ MONDO:0024538 MONDO:0700007 False basal ganglia calcification, idiopathic, 1 idi MONDO:0024539 MONDO:0043218 False choroidal dystrophy, central areolar, 1 neurovascular disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0024539 MONDO:0100441 False choroidal dystrophy, central areolar, 1 GUCY2D-related dominant retinopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0024545 MONDO:0016145 False Miyoshi muscular dystrophy 1 qualitative or quantitative defects of dysferlin UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0024548 MONDO:0010033 False peeling skin syndrome 1 generalized peeling skin syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0024551 MONDO:0010627 False X-linked lymphoproliferative disease due to SH2D1A deficiency X-linked lymphoproliferative syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0024551 MONDO:0020605 False X-linked lymphoproliferative disease due to SH2D1A deficiency X-linked recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0024555 MONDO:0011391 False megalencephalic leukoencephalopathy with subcortical cysts 1 megalencephalic leukoencephalopathy with subcortical cysts UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0024561 MONDO:0011979 False vitelliform macular dystrophy 3 adult-onset foveomacular vitelliform dystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0024563 MONDO:0015979 False herpes simplex encephalitis, susceptibility to, 1 hereditary predisposition to infections UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0024566 MONDO:0005071 False febrile seizures, familial, 11 nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0024569 MONDO:0014720 False optic atrophy 8 autosomal dominant optic atrophy plus syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0024570 MONDO:0015027 False hyperparathyroidism 4 familial isolated hyperparathyroidism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0024570 MONDO:0019060 False hyperparathyroidism 4 bone neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0024570 MONDO:0023603 False hyperparathyroidism 4 hereditary disorder of connective tissue UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0024570 MONDO:0800096 False hyperparathyroidism 4 abnormal mineralization disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0024571 MONDO:0021674 False AIDS-related disorder post-viral disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0024571 MONDO:0024572 False AIDS-related disorder immunodeficiency-related disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0024572 MONDO:0005046 False immunodeficiency-related disorder immune system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0024573 MONDO:0005217 False familial hypertrophic cardiomyopathy familial cardiomyopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0024574 MONDO:0002242 False von Willebrand disease (hereditary or acquired) coagulation protein disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0024575 MONDO:0700003 False pregnancy disorder obstetric disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0024607 MONDO:0019950 False congenital muscular dystrophy with cataracts and intellectual disability congenital muscular dystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0024608 MONDO:0002428 False dientamoebiasis protozoa infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0024608 MONDO:0024270 False dientamoebiasis parasitic intestinal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0024610 MONDO:0005135 False parasitic skin disorder parasitic infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0024610 MONDO:0024294 False parasitic skin disorder skin disorder caused by infection UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0024611 MONDO:0002022 False orbit neoplasm disorder of orbital region UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0024611 MONDO:0023369 False orbit neoplasm disorder of facial skeleton UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0024611 MONDO:0024653 False orbit neoplasm skull neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0024612 MONDO:0004985 False manic bipolar affective disorder bipolar disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0024613 MONDO:0002050 False bipolar depression depressive disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0024613 MONDO:0004985 False bipolar depression bipolar disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0024614 MONDO:0002050 False neurotic depression depressive disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0024616 MONDO:0003648 False tympanitis tympanic membrane disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0024616 MONDO:0005441 False tympanitis otitis media UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0024617 MONDO:0015531 False xanthogranuloma non-Langerhans cell histiocytosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0024618 MONDO:0005747 False poliovirus infection enterovirus infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0024619 MONDO:0002602 False central nervous system infectious disorder central nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0024619 MONDO:0020010 False central nervous system infectious disorder infectious disorder of the nervous system UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0024620 MONDO:0004796 False meningitis caused by poliovirus infectious meningitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0024620 MONDO:0024318 False meningitis caused by poliovirus viral infection of central nervous system UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0024620 MONDO:0024618 False meningitis caused by poliovirus poliovirus infection UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -30304,6 +30919,7 @@ MONDO:0024634 MONDO:0005020 False large intestine disorder intestinal disorder U MONDO:0024635 MONDO:0005020 False small intestine disorder intestinal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0024636 MONDO:0005267 False inflammation of heart layer heart disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0024636 MONDO:0021166 False inflammation of heart layer inflammatory disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0024643 MONDO:0005267 False myocardial disorder heart disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0024644 MONDO:0005053 False myocardial ischemia ischemic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0024644 MONDO:0024643 False myocardial ischemia myocardial disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0024648 MONDO:0000642 False optic tract meningioma brain meningioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -30323,11 +30939,12 @@ MONDO:0024659 MONDO:0043424 False colorectal Kaposi sarcoma digestive system inf MONDO:0024663 MONDO:0003363 False primary skin meningioma malignant dermis tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0024663 MONDO:0004429 False primary skin meningioma skin meningioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0024664 MONDO:0005044 False hypertension, pregnancy-induced hypertensive disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0024664 MONDO:0024575 False hypertension, pregnancy-induced pregnancy disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0024665 MONDO:0002145 False indeterminate sex and/or pseudohermaphroditism disorder of sexual differentiation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0024673 MONDO:0024666 False skin lymphangioma benign epithelial skin neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0024674 MONDO:0021058 False Pancoast syndrome neoplastic syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0024674 MONDO:0024882 False Pancoast syndrome secondary neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0024686 MONDO:0000631 False tenosynovial giant cell tumor, diffuse type bone benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0024686 MONDO:0002400 False tenosynovial giant cell tumor, diffuse type synovitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0024686 MONDO:0005554 False tenosynovial giant cell tumor, diffuse type rheumatic disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0024857 MONDO:0003514 False immature extragonadal teratoma malignant teratoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0024857 MONDO:0003578 False immature extragonadal teratoma extragonadal nonseminomatous germ cell tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -30343,6 +30960,7 @@ MONDO:0024889 MONDO:0002513 False benign mesonephroma kidney benign neoplasm UNS MONDO:0024889 MONDO:0024888 False benign mesonephroma mesonephric neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0024889 MONDO:0036976 False benign mesonephroma benign epithelial neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0024891 MONDO:0021108 False non-infectious meningitis meningitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0024892 MONDO:0006424 False soft tissue amyloid neoplasm soft tissue neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0024893 MONDO:0005988 False toxocara canis infection (canine roundworms) toxocariasis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0024905 MONDO:0005583 False bird disease non-human animal disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0024912 MONDO:0005583 False cat disease non-human animal disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -30369,7 +30987,6 @@ MONDO:0024973 MONDO:0005678 False pneumonia, atypical interstitial, of cattle bo MONDO:0024981 MONDO:0005583 False rodent disease non-human animal disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0024982 MONDO:0700050 False salmonella infections, animal bacterial infectious disease, non-human animal UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0024985 MONDO:0005583 False sheep disease non-human animal disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0024988 MONDO:0000383 False sex cord-stromal benign neoplasm benign reproductive system neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0024988 MONDO:0006055 False sex cord-stromal benign neoplasm sex cord-stromal tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0024990 MONDO:0005583 False swine disease non-human animal disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0025003 MONDO:0005583 False goat disease non-human animal disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -30419,8 +31036,6 @@ MONDO:0025159 MONDO:0024990 False pneumonia of swine, mycoplasmal swine disease MONDO:0025159 MONDO:0700111 False pneumonia of swine, mycoplasmal bacterial pneumonia, non-human animal UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0025163 MONDO:0024913 False white heifer disease cattle disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0025167 MONDO:0024905 False reticuloendotheliosis, avian bird disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0025193 MONDO:0016106 False oculopharyngodistal myopathy progressive muscular dystrophy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0025193 MONDO:0018949 False oculopharyngodistal myopathy distal myopathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS MONDO:0025263 MONDO:0024950 False strongyle infections, equine horse disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0025263 MONDO:0025082 False strongyle infections, equine helminthiasis, animal UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0025263 MONDO:0700209 False strongyle infections, equine Strongylida infectious disease, non-human animal UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -30493,8 +31108,6 @@ MONDO:0025506 MONDO:0700049 False porcine postweaning multisystemic wasting synd MONDO:0025513 MONDO:0005492 False autoimmune urticaria urticaria UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0025513 MONDO:0007179 False autoimmune urticaria autoimmune disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0025514 MONDO:0005093 False livedoid vasculopathy skin disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0025514 MONDO:0018882 False livedoid vasculopathy vasculitis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0025556 MONDO:0004784 False isocyanate induced asthma allergic asthma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0025598 MONDO:0005701 False pneumonia caused by chlamydia chlamydia trachomatis infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0025598 MONDO:0041850 False pneumonia caused by chlamydia pneumonia caused by gram negative bacteria UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0025622 MONDO:0015626 False Charcot-Marie-Tooth disease, axonal, mitochondrial form, 1 Charcot-Marie-Tooth disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING @@ -30504,19 +31117,14 @@ MONDO:0025986 MONDO:0003847 False megacystis-microcolon-intestinal hypoperistals MONDO:0025986 MONDO:0021189 False megacystis-microcolon-intestinal hypoperistalsis syndrome intestinal motility disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0026404 MONDO:0100209 False X inactivation, familial skewed, 1 X inactivation, familial skewed UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0026426 MONDO:0100209 False X inactivation, familial skewed, 2 X inactivation, familial skewed UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0026722 MONDO:0003847 False Mullegama-Klein-Martinez syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0026727 MONDO:0003847 False Shukla-Vernon syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0026730 MONDO:0002254 False Basilicata-Akhtar syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0026763 MONDO:0020605 False holoprosencephaly 13, X-linked X-linked recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0026777 MONDO:0019751 False VEXAS syndrome autoinflammatory syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0026777 MONDO:0023603 False VEXAS syndrome hereditary disorder of connective tissue UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0027026 MONDO:0002149 False Buschke Lowenstein tumor reproductive system cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0027026 MONDO:0005647 False Buschke Lowenstein tumor anogenital human papillomavirus infection UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0027026 MONDO:0006006 False Buschke Lowenstein tumor verrucous carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0027068 MONDO:0100134 False mitochondrial complex 1 deficiency, mitochondrial type 1 mitochondrial complex I deficiency, mitochondrial type UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0027069 MONDO:0014471 False mitochondrial complex 5 (ATP synthase) deficiency, mitochondrial type 1 mitochondrial proton-transporting ATP synthase complex deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS MONDO:0027091 MONDO:0006969 False xanthogranulomatous sialadenitis sialadenitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0027353 MONDO:0015780 False autosomal recessive dyskeratosis congenita 4 dyskeratosis congenita UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0027451 MONDO:0019573 False autosomal recessive cutis laxa type 2D autosomal recessive cutis laxa type 2 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0027462 MONDO:0019573 False autosomal recessive cutis laxa type 2C autosomal recessive cutis laxa type 2 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0027652 MONDO:0800390 False 5-fluorouracil toxicity chemotherapy-induced toxicity UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -30535,7 +31143,6 @@ MONDO:0028226 MONDO:0006025 False autosomal recessive severe congenital neutrope MONDO:0029000 MONDO:0700096 False poisoning human disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0029130 MONDO:0019673 False polydactyly, postaxial, type A8 postaxial polydactyly type A UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0029131 MONDO:0003847 False peripheral neuropathy, autosomal recessive, with or without impaired intellectual development hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0029134 MONDO:0006025 False severe combined immunodeficiency due to CARMIL2 deficiency autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0029134 MONDO:0015974 False severe combined immunodeficiency due to CARMIL2 deficiency severe combined immunodeficiency UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0029135 MONDO:0700075 False muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 8 congenital muscular dystrophy caused by variation in POMGNT2 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0029136 MONDO:0100228 False muscular dystrophy, limb-girdle, autosomal recessive 23 LAMA2-related muscular dystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -30544,13 +31151,11 @@ MONDO:0029140 MONDO:0015286 False glycosylphosphatidylinositol biosynthesis defe MONDO:0029140 MONDO:0024321 False glycosylphosphatidylinositol biosynthesis defect 18 disorder of GPI anchor biosynthesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0029143 MONDO:0003847 False intellectual developmental disorder with hypertelorism and distinctive facies hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0029144 MONDO:0003847 False extraoral halitosis due to methanethiol oxidase deficiency hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0029465 MONDO:0100172 False intellectual developmental disorder, autosomal dominant 69 intellectual disability, autosomal dominant UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0030005 MONDO:0003847 False epilepsy, early-onset, with or without developmental delay hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0030012 MONDO:0003847 False Diets-Jongmans syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0030018 MONDO:0003847 False autoinflammation with episodic fever and lymphadenopathy hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0030024 MONDO:0100500 False neurodevelopmental disorder with or without autistic features and/or structural brain abnormalities Mendelian neurodevelopmental disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0030025 MONDO:0100500 False neurodevelopmental disorder with hypotonia, microcephaly, and seizures Mendelian neurodevelopmental disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0030026 MONDO:0003847 False retinal dystrophy with leukodystrophy hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0030028 MONDO:0003847 False neurodegeneration, childhood-onset, with ataxia, tremor, optic atrophy, and cognitive decline hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0030029 MONDO:0003847 False skeletal dysplasia, mild, with joint laxity and advanced bone age hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0030030 MONDO:0003847 False Nizon-Isidor syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -30569,44 +31174,39 @@ MONDO:0030045 MONDO:0003847 False Liberfarb syndrome hereditary disease UNSUPPOR MONDO:0030046 MONDO:0100500 False neurodevelopmental disorder and structural brain anomalies with or without seizures and spasticity Mendelian neurodevelopmental disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0030047 MONDO:0003847 False microcephaly, developmental delay, and brittle hair syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0030048 MONDO:0800180 False harderoporphyria CPOX-related hereditary coproporphyria UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0030049 MONDO:0003847 False 46,xx sex reversal 5 hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0030051 MONDO:0003847 False intellectual developmental disorder with autistic features and language delay, with or without seizures hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0030055 MONDO:0015363 False neuronopathy, distal hereditary motor, autosomal recessive 8 neuronopathy, distal hereditary motor, autosomal recessive UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0030057 MONDO:0003847 False neurodevelopmental, jaw, eye, and digital syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0030060 MONDO:0100500 False neurodevelopmental disorder with language impairment and behavioral abnormalities Mendelian neurodevelopmental disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0030063 MONDO:0100500 False neurodevelopmental disorder with seizures, hypotonia, and brain imaging abnormalities Mendelian neurodevelopmental disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0030065 MONDO:0003847 False agenesis of corpus callosum, cardiac, ocular, and genital syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0030071 MONDO:0003847 False retinitis pigmentosa 89 hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0030073 MONDO:0100306 False Mitchell syndrome disorder of defective peroxisome oxidative status UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0030074 MONDO:0003847 False spondylometaphyseal dysplasia with corneal dystrophy hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0030105 MONDO:0800152 False galactosemia 4 disorder of galactose and fructose metabolism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0030313 MONDO:0800174 False encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 10 encephalitis, acute, infection-induced, susceptibility to UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0030334 MONDO:0800174 False encephalitis, acute, infection (viral)-induced, susceptibility to, 11 encephalitis, acute, infection-induced, susceptibility to UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0030341 MONDO:0002320 False myasthenic syndrome, congenital, 7B, presynaptic, autosomal recessive congenital nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0030434 MONDO:0020573 False epilepsy, idiopathic generalized, susceptibility to, 18 inherited disease susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0030502 MONDO:0700064 False tetrasomy aneuploidy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0030602 MONDO:0004652 False Klebsiella pneumonia bacterial pneumonia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0030602 MONDO:0030603 False Klebsiella pneumonia Klebsiella infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0030603 MONDO:0005113 False Klebsiella infectious disease bacterial infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0030639 MONDO:0003847 False Teebi hypertelorism syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0030681 MONDO:0018037 False immunodeficiency 94 with autoinflammation and dysmorphic facies hyper-IgE syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0030700 MONDO:0002462 False autoimmune glomerulonephritis glomerulonephritis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0030700 MONDO:0007179 False autoimmune glomerulonephritis autoimmune disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0030701 MONDO:0000589 False autoimmune cardiomyopathy autoimmune disorder of musculoskeletal system UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0030701 MONDO:0000603 False autoimmune cardiomyopathy autoimmune disorder of cardiovascular system UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0030701 MONDO:0004994 False autoimmune cardiomyopathy cardiomyopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0030702 MONDO:0000603 False autoimmune atherosclerosis autoimmune disorder of cardiovascular system UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0030702 MONDO:0005311 False autoimmune atherosclerosis atherosclerosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0030703 MONDO:0000603 False autoimmune vasculitis autoimmune disorder of cardiovascular system UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0030703 MONDO:0018882 False autoimmune vasculitis vasculitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0030705 MONDO:0002154 False Trichomonas prostatitis trichomoniasis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0030705 MONDO:0005280 False Trichomonas prostatitis prostatitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0030706 MONDO:0005993 False Trichomonas cystitis Trichomonas vaginitis urogenital infection UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0030706 MONDO:0006032 False Trichomonas cystitis cystitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0030707 MONDO:0001618 False Trichomonas balanoposthitis balanoposthitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0030707 MONDO:0002154 False Trichomonas balanoposthitis trichomoniasis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0030708 MONDO:0002154 False Trichomonas cervicitis trichomoniasis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0030708 MONDO:0002345 False Trichomonas cervicitis cervicitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0030720 MONDO:0005993 False trichomonal vulvovaginitis Trichomonas vaginitis urogenital infection UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0030720 MONDO:0007019 False trichomonal vulvovaginitis vulvovaginitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0030720 MONDO:0023557 False trichomonal vulvovaginitis infective vaginitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0030796 MONDO:0003847 False leukoencephalopathy, hereditary diffuse, with spheroids hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0030805 MONDO:0020380 False spinocerebellar ataxia 49 autosomal dominant cerebellar ataxia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0030827 MONDO:0015372 False macrothrombocytopenia, isolated, 2, autosomal dominant autosomal dominant macrothrombocytopenia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0030831 MONDO:0003847 False gastrointestinal defect and immunodeficiency syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0030835 MONDO:0003847 False developmental delay, impaired growth, dysmorphic facies, and axonal neuropathy hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -30618,71 +31218,40 @@ MONDO:0030859 MONDO:0100349 False COACH syndrome 2 COACH syndrome UNSUPPORTED-MI MONDO:0030860 MONDO:0100350 False neuronopathy, distal hereditary motor, type 5C neuronopathy, distal hereditary motor, type 5 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0030862 MONDO:0100349 False COACH syndrome 3 COACH syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0030866 MONDO:0100500 False neurodevelopmental disorder with cardiomyopathy, spasticity, and brain abnormalities Mendelian neurodevelopmental disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0030871 MONDO:0003847 False vertebral hypersegmentation and orofacial anomalies hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0030872 MONDO:0030923 False frontotemporal dementia and/or amyotrophic lateral sclerosis 8 frontotemporal dementia and/or amyotrophic lateral sclerosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0030873 MONDO:0003847 False cardiofacioneurodevelopmental syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0030875 MONDO:0030923 False frontotemporal dementia and/or amyotrophic lateral sclerosis 5 frontotemporal dementia and/or amyotrophic lateral sclerosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0030878 MONDO:0003847 False Kaya-Barakat-Masson syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0030880 MONDO:0003847 False mandibuloacral dysplasia progeroid syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0030885 MONDO:0005144 False amyotrophic lateral sclerosis 26 with or without frontotemporal dementia familial amyotrophic lateral sclerosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING -MONDO:0030890 MONDO:0020135 False pontocerebellar hypoplasia, IIA 17 pontocerebellar hypoplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING -MONDO:0030891 MONDO:0100172 False intellectual developmental disorder, autosomal dominant 66 intellectual disability, autosomal dominant UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0030893 MONDO:0003847 False leukoencephalopathy, progressive, infantile-onset, with or without deafness hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0030896 MONDO:0016911 False chromosome 13q33-q34 deletion syndrome partial deletion of the long arm of chromosome 13 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0030897 MONDO:0003847 False Lessel-Kreienkamp syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0030900 MONDO:0003847 False intellectual developmental disorder with paroxysmal dyskinesia or seizures hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0030906 MONDO:0002154 False Trichomonas tenax infectious disease trichomoniasis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0030910 MONDO:0015802 False intellectual disability, autosomal dominant 45 autosomal dominant non-syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0030911 MONDO:0015802 False intellectual disability, autosomal dominant 46 autosomal dominant non-syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0030912 MONDO:0002320 False intellectual disability, autosomal dominant 47 congenital nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0030912 MONDO:0015159 False intellectual disability, autosomal dominant 47 multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0030912 MONDO:0015802 False intellectual disability, autosomal dominant 47 autosomal dominant non-syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0030913 MONDO:0000508 False intellectual disability, autosomal dominant 48 syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0030913 MONDO:0002320 False intellectual disability, autosomal dominant 48 congenital nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0030913 MONDO:0015159 False intellectual disability, autosomal dominant 48 multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0030914 MONDO:0015802 False Clark-Baraitser syndrome autosomal dominant non-syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0030916 MONDO:0015802 False intellectual disability, autosomal dominant 50 autosomal dominant non-syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0030917 MONDO:0015802 False intellectual disability, autosomal dominant 51 autosomal dominant non-syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0030918 MONDO:0015802 False intellectual disability, autosomal dominant 52 autosomal dominant non-syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0030919 MONDO:0015802 False intellectual disability, autosomal dominant 53 autosomal dominant non-syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0030920 MONDO:0015802 False intellectual disability, autosomal dominant 54 autosomal dominant non-syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0030921 MONDO:0015802 False intellectual disability, autosomal dominant 55, with seizures autosomal dominant non-syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0030922 MONDO:0015802 False intellectual disability, autosomal dominant 56 autosomal dominant non-syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0030923 MONDO:0024237 False frontotemporal dementia and/or amyotrophic lateral sclerosis inherited neurodegenerative disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0030928 MONDO:0007988 False microcephaly 26, primary, autosomal dominant autosomal dominant primary microcephaly UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0030929 MONDO:0007988 False microcephaly 27, primary, autosomal dominant autosomal dominant primary microcephaly UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0030930 MONDO:0100500 False neurodevelopmental disorder with or without early-onset generalized epilepsy Mendelian neurodevelopmental disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0030947 MONDO:0003847 False neurodegeneration, childhood-onset, with hypotonia, respiratory insufficiency, and brain imaging abnormalities hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0030957 MONDO:0100062 False developmental and epileptic encephalopathy 103 developmental and epileptic encephalopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS -MONDO:0030958 MONDO:0044807 False dystonia 35, childhood-onset inherited dystonia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0030963 MONDO:0003847 False Li-Campeau syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0030964 MONDO:0100172 False intellectual developmental disorder, autosomal dominant 67 intellectual disability, autosomal dominant UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0030966 MONDO:0003847 False neurofacioskeletal syndrome with or without renal agenesis hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0030967 MONDO:0003847 False deafness, congenital, and adult-onset progressive leukoencephalopathy hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0030968 MONDO:0019502 False intellectual developmental disorder, autosomal recessive 76 autosomal recessive non-syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS -MONDO:0030969 MONDO:0100172 False intellectual developmental disorder, autosomal dominant 68 intellectual disability, autosomal dominant UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING -MONDO:0030970 MONDO:0021094 False immunodeficiency 106, susceptibility to viral infections immunodeficiency disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING -MONDO:0030972 MONDO:0004983 False spermatogenic failure 74 spermatogenic failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING -MONDO:0030975 MONDO:0019852 False premature ovarian failure 20 inherited primary ovarian failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0030976 MONDO:0003847 False oculomotor-abducens synkinesis hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0030977 MONDO:0015363 False neuronopathy, distal hereditary motor, autosomal recessive 7 neuronopathy, distal hereditary motor, autosomal recessive UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0030978 MONDO:0003847 False endove syndrome, limb-only type hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0030979 MONDO:0003847 False endove syndrome, limb-brain type hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0030981 MONDO:0015974 False immunodeficiency 79 severe combined immunodeficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0030982 MONDO:0019052 False sulfide quinone oxidoreductase deficiency inborn errors of metabolism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0030983 MONDO:0018094 False Waardenburg syndrome, IIa 2F Waardenburg syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING -MONDO:0030984 MONDO:0004983 False spermatogenic failure 75 spermatogenic failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0030986 MONDO:0003847 False blistering, acantholytic, of oral and laryngeal mucosa hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0030987 MONDO:0003847 False vertebral, cardiac, tracheoesophageal, renal, and limb defects hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0030988 MONDO:0003847 False developmental delay with dysmorphic facies and dental anomalies hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0030990 MONDO:0003847 False Kohlschutter-Tonz syndrome-like hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0030991 MONDO:0003847 False bile acid conjugation defect 1 hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0030992 MONDO:0003847 False short stature, oligodontia, dysmorphic facies, and motor delay hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0030993 MONDO:0031400 False Tessadori-Van Haaften neurodevelopmental syndrome 3 Tessadori-Van-Haaften neurodevelopmental syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0030994 MONDO:0100500 False neurodevelopmental disorder with or without autism or seizures Mendelian neurodevelopmental disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0030995 MONDO:0003847 False global developmental delay with speech and behavioral abnormalities hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0030999 MONDO:0100500 False neurodevelopmental disorder with cerebral atrophy and variable facial dysmorphism Mendelian neurodevelopmental disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0031000 MONDO:0031400 False Tessadori-Van Haaften neurodevelopmental syndrome 4 Tessadori-Van-Haaften neurodevelopmental syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0031001 MONDO:0003847 False vitreoretinopathy with phalangeal epiphyseal dysplasia hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0031002 MONDO:0003847 False Baralle-Macken syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0031006 MONDO:0003847 False neurodegeneration with ataxia and late-onset optic atrophy hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -30690,36 +31259,12 @@ MONDO:0031007 MONDO:0002320 False spondyloepiphyseal dysplasia, sensorineural he MONDO:0031007 MONDO:0800101 False spondyloepiphyseal dysplasia, sensorineural hearing loss, impaired intellectual development, and leber congenital amaurosis NMNAT1-related retinopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0031008 MONDO:0005377 False nephrotic syndrome, type 24 nephrotic syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0031011 MONDO:0100500 False neurodevelopmental disorder with dysmorphic facies and variable seizures Mendelian neurodevelopmental disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0031012 MONDO:0000587 False autoimmune uveitis autoimmune disease of ear, nose and throat UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0031012 MONDO:0020283 False autoimmune uveitis uveitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0031013 MONDO:0000568 False autoimmune optic neuritis autoimmune disorder of central nervous system UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0031013 MONDO:0000590 False autoimmune optic neuritis autoimmune disorder of peripheral nervous system UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0031013 MONDO:0005885 False autoimmune optic neuritis optic neuritis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0031014 MONDO:0000588 False autoimmune gastritis autoimmune disorder of gastrointestinal tract UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0031019 MONDO:0019064 False spastic paraplegia 87, autosomal recessive hereditary spastic paraplegia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING -MONDO:0031021 MONDO:0100062 False developmental and epileptic encephalopathy 104 developmental and epileptic encephalopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS -MONDO:0031028 MONDO:0100062 False developmental and epileptic encephalopathy 105 with hypopituitarism developmental and epileptic encephalopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS -MONDO:0031030 MONDO:0021094 False immunodeficiency 107, susceptibility to invasive staphylococcus aureus infection immunodeficiency disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING -MONDO:0031031 MONDO:0019502 False intellectual developmental disorder, autosomal recessive 77 autosomal recessive non-syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS +MONDO:0031014 MONDO:0004966 False autoimmune gastritis gastritis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0031037 MONDO:0000820 False famililal cerebral cavernous malformations cerebral cavernous malformation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0031037 MONDO:0003847 False famililal cerebral cavernous malformations hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0031040 MONDO:0015762 False cholestasis, progressive familial intrahepatic, 12 progressive familial intrahepatic cholestasis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING -MONDO:0031043 MONDO:0019313 False lymphatic malformation 12 lymphatic malformation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS -MONDO:0031044 MONDO:0015609 False advance sleep phase syndrome, familial, 4 advanced sleep phase syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING -MONDO:0031045 MONDO:0019942 False arthrogryposis, distal, IIa 11 distal arthrogryposis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING -MONDO:0031047 MONDO:0019354 False stickler syndrome, IIa 6 Stickler syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING -MONDO:0031052 MONDO:0100062 False developmental and epileptic encephalopathy 106 developmental and epileptic encephalopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS -MONDO:0031054 MONDO:0016575 False ciliary dyskinesia, primary, 48, without situs inversus primary ciliary dyskinesia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING -MONDO:0031055 MONDO:0100062 False developmental and epileptic encephalopathy 107 developmental and epileptic encephalopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS -MONDO:0031057 MONDO:0015780 False dyskeratosis congenita, digenic dyskeratosis congenita UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING -MONDO:0031060 MONDO:0016660 False microcephaly 29, primary, autosomal recessive autosomal recessive primary microcephaly UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING -MONDO:0031061 MONDO:0002350 False nephrotic syndrome, IIa 26 familial nephrotic syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING -MONDO:0031062 MONDO:0020642 False polycystic kidney disease 7 polycystic kidney disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING -MONDO:0031068 MONDO:0015626 False Charcot-Marie-Tooth disease, axonal, IIa 2II Charcot-Marie-Tooth disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING -MONDO:0031071 MONDO:0015253 False Diamond-Blackfan anemia 21 Diamond-Blackfan anemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING -MONDO:0031077 MONDO:0004983 False spermatogenic failure 76 spermatogenic failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING -MONDO:0031083 MONDO:0004983 False spermatogenic failure 77 spermatogenic failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING -MONDO:0031084 MONDO:0019507 False amelogenesis imperfecta, IIa 1K amelogenesis imperfecta UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0031115 MONDO:0003847 False dyskinesia with orofacial involvement hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0031166 MONDO:0020242 False macular dystrophy, retinal hereditary macular dystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0031169 MONDO:0016763 False odontochondrodysplasia spondylometaphyseal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING @@ -30734,7 +31279,6 @@ MONDO:0031257 MONDO:0006932 False high altitude pulmonary edema pulmonary edema MONDO:0031280 MONDO:0003847 False Stuve-Wiedemann syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0031322 MONDO:0002285 False triopia pupil disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0031323 MONDO:0003847 False cardiac valvular defect hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0031329 MONDO:0002254 False craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0031329 MONDO:0003847 False craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0031376 MONDO:0019052 False congenital disorder of deglycosylation inborn errors of metabolism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0031384 MONDO:0019751 False autoinflammatory syndrome, familial, Behcet-like autoinflammatory syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -30742,7 +31286,6 @@ MONDO:0031384 MONDO:0023603 False autoinflammatory syndrome, familial, Behcet-li MONDO:0031386 MONDO:0003847 False cardioacrofacial dysplasia hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0031400 MONDO:0003847 False Tessadori-Van-Haaften neurodevelopmental syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0031415 MONDO:0003847 False Carey-Fineman-Ziter syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0031421 MONDO:0019272 False Olmsted syndrome hereditary palmoplantar keratoderma UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0031422 MONDO:0019248 False familial mucolipidosis mucolipidosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0031432 MONDO:0003847 False thyroid hormone metabolism, abnormal hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0031432 MONDO:0005151 False thyroid hormone metabolism, abnormal endocrine system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -30768,14 +31311,11 @@ MONDO:0032596 MONDO:0002320 False myasthenic syndrome, congenital, 23, presynapt MONDO:0032597 MONDO:0002320 False myasthenic syndrome, congenital, 24, presynaptic congenital nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0032600 MONDO:0003847 False Snijders Blok-Campeau syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0032601 MONDO:0003847 False inflammatory bowel disease, immunodeficiency, and encephalopathy hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0032607 MONDO:0003847 False vertebral anomalies and variable endocrine and T-cell dysfunction hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0032642 MONDO:0003847 False arthrogryposis, cleft palate, craniosynostosis, and impaired intellectual development hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0032645 MONDO:0003847 False trichohepatoneurodevelopmental syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0032648 MONDO:0003847 False mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0032650 MONDO:0003847 False neurodegeneration, childhood-onset, with cerebellar atrophy hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0032651 MONDO:0003847 False fibrosis, neurodegeneration, and cerebral angiomatosis hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0032653 MONDO:0003847 False cardiac-urogenital syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0032655 MONDO:0003847 False visual impairment and progressive phthisis bulbi hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0032656 MONDO:0003847 False microcephaly, cataracts, impaired intellectual development, and dystonia with abnormal striatum hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0032658 MONDO:0003847 False macrocephaly, acquired, with impaired intellectual development hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0032659 MONDO:0003847 False mucocutaneous ulceration, chronic hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -30789,7 +31329,6 @@ MONDO:0032680 MONDO:0003847 False global developmental delay with or without imp MONDO:0032681 MONDO:0100198 False encephalopathy, progressive, early-onset, with episodic rhabdomyolysis Mendelian encephalopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0032684 MONDO:0800063 False intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, genital anomalies, and immunodeficiency primordial dwarfism and slender bone disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0032685 MONDO:0003847 False infantile cataract, skin abnormalities, glutamate excess, and impaired intellectual development hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0032687 MONDO:0003847 False intellectual developmental disorder with abnormal behavior, microcephaly, and short stature hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0032688 MONDO:0003847 False polymicrogyria with or without vascular-type Ehlers-Danlos syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0032690 MONDO:0003847 False microcephaly, growth deficiency, seizures, and brain malformations hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0032697 MONDO:0100500 False neurodevelopmental disorder and language delay with or without structural brain abnormalities Mendelian neurodevelopmental disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -30798,33 +31337,22 @@ MONDO:0032699 MONDO:0020573 False epilepsy, idiopathic generalized, susceptibili MONDO:0032702 MONDO:0700120 False Coffin-Siris syndrome 8 BAFopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0032703 MONDO:0003847 False short stature, amelogenesis imperfecta, and skeletal dysplasia with scoliosis hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0032703 MONDO:0005172 False short stature, amelogenesis imperfecta, and skeletal dysplasia with scoliosis skeletal system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0032705 MONDO:0017313 False neurodevelopmental disorder with microcephaly, epilepsy, and hypomyelination disorder of folate metabolism and transport UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0032705 MONDO:0019046 False neurodevelopmental disorder with microcephaly, epilepsy, and hypomyelination leukodystrophy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0032705 MONDO:0100500 False neurodevelopmental disorder with microcephaly, epilepsy, and hypomyelination Mendelian neurodevelopmental disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0032707 MONDO:0003847 False turnpenny-fry syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0032714 MONDO:0003847 False facial dysmorphism, hypertrichosis, epilepsy, intellectual/developmental delay, and gingival overgrowth syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0032716 MONDO:0003847 False leukoencephalopathy, acute reversible, with increased urinary alpha-ketoglutarate hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0032716 MONDO:0020683 False leukoencephalopathy, acute reversible, with increased urinary alpha-ketoglutarate acute disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0032721 MONDO:0016761 False spondyloepiphyseal dysplasia, kondo-fu type spondyloepiphyseal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0032724 MONDO:0006025 False spondyloepimetaphyseal dysplasia with joint laxity, type 3 autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0032728 MONDO:0018993 False Charcot-Marie-Tooth disease, axonal, type 2EE Charcot-Marie-Tooth disease type 2 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0032733 MONDO:0003847 False global developmental delay, progressive ataxia, and elevated glutamine hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0032736 MONDO:0003847 False metabolic crises, recurrent, with variable encephalomyopathic features and neurologic regression hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0032737 MONDO:0019064 False spastic paraplegia 80, autosomal dominant hereditary spastic paraplegia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS MONDO:0032738 MONDO:0003847 False gonadal dysgenesis, dysmorphic facies, retinal dystrophy, and myopathy hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0032741 MONDO:0100500 False neurodevelopmental disorder with impaired speech and hyperkinetic movements Mendelian neurodevelopmental disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0032742 MONDO:0800174 False encephalopathy, acute, infection-induced, susceptibility to, 9 encephalitis, acute, infection-induced, susceptibility to UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0032745 MONDO:0003847 False developmental delay with variable intellectual impairment and behavioral abnormalities hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0032750 MONDO:0000426 False arthrogryposis, distal, type 2B2 autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0032750 MONDO:0011128 False arthrogryposis, distal, type 2B2 Sheldon-hall syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0032751 MONDO:0000426 False arthrogryposis, distal, type 2B3 autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0032751 MONDO:0011128 False arthrogryposis, distal, type 2B3 Sheldon-hall syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0032755 MONDO:0100500 False neurodevelopmental disorder with or without variable brain abnormalities; NEDBA Mendelian neurodevelopmental disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0032758 MONDO:0003847 False neurodegeneration, early-onset, with choreoathetoid movements and microcytic anemia hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0032759 MONDO:0003847 False intellectual developmental disorder with short stature and variable skeletal anomalies hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0032760 MONDO:0003847 False developmental delay with or without dysmorphic facies and autism hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0032764 MONDO:0003847 False Khan-Khan-Katsanis syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0032766 MONDO:0003847 False hypoalphalipoproteinemia, primary, 2 hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0032770 MONDO:0700120 False intellectual developmental disorder with severe speech and ambulation defects BAFopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0032772 MONDO:0003847 False brain abnormalities, neurodegeneration, and dysosteosclerosis hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0032773 MONDO:0019052 False uridine-cytidineuria inborn errors of metabolism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -30839,12 +31367,10 @@ MONDO:0032790 MONDO:0100500 False neurodevelopmental disorder with coarse facies MONDO:0032792 MONDO:0019551 False neuropathy, hereditary motor and sensory, type VIc, with optic atrophy hereditary motor and sensory neuropathy type 6 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0032793 MONDO:0003847 False O'Donnell-Luria-Rodan syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0032795 MONDO:0015802 False intellectual developmental disorder 59 autosomal dominant non-syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0032797 MONDO:0019952 False myopathy, congenital, with tremor congenital myopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS MONDO:0032798 MONDO:0003847 False ichthyotic keratoderma, spasticity, hypomyelination, and dysmorphic facial features hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0032805 MONDO:0003847 False hypopigmentation, organomegaly, and delayed myelination and development hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0032807 MONDO:0100500 False neurodevelopmental disorder with visual defects and brain anomalies Mendelian neurodevelopmental disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0032808 MONDO:0002320 False developmental and epileptic encephalopathy, 77 congenital nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0032808 MONDO:0002525 False developmental and epileptic encephalopathy, 77 inherited lipid metabolism disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0032808 MONDO:0015286 False developmental and epileptic encephalopathy, 77 congenital disorder of glycosylation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0032808 MONDO:0015327 False developmental and epileptic encephalopathy, 77 developmental anomaly of metabolic origin UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0032808 MONDO:0024321 False developmental and epileptic encephalopathy, 77 disorder of GPI anchor biosynthesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -30856,9 +31382,7 @@ MONDO:0032814 MONDO:0011057 False microangiopathy and leukoencephalopathy, ponti MONDO:0032816 MONDO:0100500 False neurodevelopmental disorder with ataxia, hypotonia, and microcephaly Mendelian neurodevelopmental disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0032817 MONDO:0100500 False neurodevelopmental disorder with cataracts, poor growth, and dysmorphic facies Mendelian neurodevelopmental disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0032818 MONDO:0100500 False neurodevelopmental disorder with cerebellar hypoplasia and spasticity Mendelian neurodevelopmental disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0032819 MONDO:0016410 False hypothyroidism, congenital, nongoitrous, 7 central congenital hypothyroidism UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0032820 MONDO:0100500 False neurodevelopmental disorder with structural brain anomalies and dysmorphic facies Mendelian neurodevelopmental disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0032821 MONDO:0019952 False myopathy, congenital, progressive, with scoliosis congenital myopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS MONDO:0032822 MONDO:0002320 False developmental and epileptic encephalopathy, 80 congenital nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0032822 MONDO:0002525 False developmental and epileptic encephalopathy, 80 inherited lipid metabolism disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0032822 MONDO:0015286 False developmental and epileptic encephalopathy, 80 congenital disorder of glycosylation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS @@ -30871,29 +31395,23 @@ MONDO:0032829 MONDO:0100500 False neurodevelopmental disorder with hypotonia and MONDO:0032830 MONDO:0003847 False snijders blok-fisher syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0032832 MONDO:0003847 False intellectual developmental disorder with nasal speech, dysmorphic facies, and variable skeletal anomalies hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0032833 MONDO:0003847 False lower urinary tract obstruction, congenital hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0032835 MONDO:0016761 False spondyloepiphyseal dysplasia, nishimura type spondyloepiphyseal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0032836 MONDO:0003847 False weiss-kruszka syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0032838 MONDO:0100500 False neurodevelopmental disorder with microcephaly, arthrogryposis, and structural brain anomalies Mendelian neurodevelopmental disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0032841 MONDO:0003847 False Usher syndrome, type 1M hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0032842 MONDO:0003847 False Siddiqi syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0032843 MONDO:0003847 False oculopharyngeal myopathy with leukoencephalopathy 1 hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0032849 MONDO:0100500 False neurodevelopmental disorder with spastic quadriplegia, optic atrophy, seizures, and structural brain anomalies Mendelian neurodevelopmental disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0032850 MONDO:0003847 False neurooculocardiogenitourinary syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0032851 MONDO:0003847 False intellectual developmental disorder with impaired language and dysmorphic facies hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0032852 MONDO:0019952 False myopathy, congenital, with structured cores and z-line abnormalities congenital myopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS MONDO:0032853 MONDO:0003847 False myopathy, distal, 6, adult-onset, autosomal dominant hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0032855 MONDO:0100500 False neurodevelopmental disorder with dysmorphic facies and distal skeletal anomalies Mendelian neurodevelopmental disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0032862 MONDO:0003847 False hydrocephalus, congenital communicating, 1 hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0032864 MONDO:0003847 False intellectual developmental disorder with speech delay, autism, and dysmorphic facies hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0032867 MONDO:0015356 False pancreatic cancer, susceptibility to, 5 hereditary neoplastic syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0032868 MONDO:0003847 False lessel-kubisch syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0032870 MONDO:0003847 False intellectual developmental disorder with short stature and behavioral abnormalities hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0032873 MONDO:0100452 False retinitis pigmentosa 87 with choroidal involvement RPE65-related dominant retinopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0032875 MONDO:0003847 False short stature and microcephaly with genital anomalies hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0032876 MONDO:0100500 False neurodevelopmental disorder with absent language and variable seizures Mendelian neurodevelopmental disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0032877 MONDO:0100500 False neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures Mendelian neurodevelopmental disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0032878 MONDO:0100500 False neurodevelopmental disorder with behavioral abnormalities, absent speech, and hypotonia Mendelian neurodevelopmental disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0032879 MONDO:0003847 False megabladder, congenital hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0032882 MONDO:0003847 False Heyn-Sproul-Jackson syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0032883 MONDO:0003847 False intellectual developmental disorder with behavioral abnormalities and craniofacial dysmorphism with or without seizures hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0032884 MONDO:0003847 False ectodermal dysplasia with facial dysmorphism and acral, ocular, and brain anomalies hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -30917,7 +31435,6 @@ MONDO:0032920 MONDO:0003847 False juvenile arthritis due to defect in LACC1 here MONDO:0032921 MONDO:0100500 False neurodevelopmental disorder with hypotonia, neonatal respiratory insufficiency, and thermodysregulation Mendelian neurodevelopmental disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0032922 MONDO:0003847 False Beck-Fahrner syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0032925 MONDO:0003847 False respiratory papillomatosis, juvenile recurrent, congenital hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0032926 MONDO:0003847 False sandestig-stefanova syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0032927 MONDO:0003847 False triokinase and FMN cyclase deficiency syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0032928 MONDO:0003847 False T-cell lymphopenia, infantile, with or without nail dystrophy, autosomal dominant hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0032930 MONDO:0003847 False intellectual developmental disorder with poor growth and with or without seizures or ataxia hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -30926,53 +31443,35 @@ MONDO:0032933 MONDO:0003847 False chromosome 1p36.33 duplication syndrome, atad3 MONDO:0032933 MONDO:0017012 False chromosome 1p36.33 duplication syndrome, atad3 gene cluster, autosomal dominant partial duplication of the short arm of chromosome 1 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0032934 MONDO:0003847 False genitourinary and/or brain malformation syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0032935 MONDO:0003847 False rhizomelic limb shortening with dysmorphic features hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0032936 MONDO:0019952 False myopathy, congenital, with respiratory insufficiency and bone fractures congenital myopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS -MONDO:0032937 MONDO:0019952 False myopathy, congenital proximal, with minicore lesions congenital myopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS MONDO:0032938 MONDO:0700007 False basal ganglia calcification, idiopathic, 8, autosomal recessive idiopathic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0032939 MONDO:0015802 False intellectual developmental disorder, autosomal dominant 63, with macrocephaly autosomal dominant non-syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0032942 MONDO:0100500 False neurodevelopmental disorder with microcephaly and dysmorphic facies Mendelian neurodevelopmental disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0032943 MONDO:0100500 False neurodevelopmental disorder with relative macrocephaly and with or without cardiac or endocrine anomalies Mendelian neurodevelopmental disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0033004 MONDO:0009889 False polycystic kidney disease 4 autosomal recessive polycystic kidney disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0033043 MONDO:0017847 False spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy autosomal recessive spastic ataxia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0033043 MONDO:0019046 False spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy leukodystrophy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS -MONDO:0033135 MONDO:0000426 False Charcot-Marie-Tooth disease, demyelinating, type 1G autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0033169 MONDO:0029000 False curariform drugs toxicity poisoning UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0033170 MONDO:0029000 False statin toxicity poisoning UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0033181 MONDO:0029000 False phenytoin or carbamazepine toxicity poisoning UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0033203 MONDO:0015905 False nephrotic syndrome 14 syndromic dyslipidemia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0033203 MONDO:0018117 False nephrotic syndrome 14 disorder of phospholipids, sphingolipids and fatty acids biosynthesis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0033203 MONDO:0044765 False nephrotic syndrome 14 steroid-resistant nephrotic syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0033281 MONDO:0009889 False polycystic kidney disease 5 autosomal recessive polycystic kidney disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0033304 MONDO:0000428 False nonsyndromic deafness, Y-linked Y-linked disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0033304 MONDO:0019497 False nonsyndromic deafness, Y-linked nonsyndromic genetic hearing loss UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0033312 MONDO:0005090 False schizophrenia 19 schizophrenia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS MONDO:0033352 MONDO:0002320 False neuropathy, congenital hypomelinating congenital nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0033352 MONDO:0020127 False neuropathy, congenital hypomelinating hereditary peripheral neuropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0033364 MONDO:0002320 False developmental and epileptic encephalopathy, 55 congenital nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0033364 MONDO:0002525 False developmental and epileptic encephalopathy, 55 inherited lipid metabolism disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0033364 MONDO:0015286 False developmental and epileptic encephalopathy, 55 congenital disorder of glycosylation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0033364 MONDO:0024321 False developmental and epileptic encephalopathy, 55 disorder of GPI anchor biosynthesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0033480 MONDO:0019793 False spinocerebellar ataxia 45 autosomal dominant cerebellar ataxia type III UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0033481 MONDO:0019792 False spinocerebellar ataxia 46 autosomal dominant cerebellar ataxia type I UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0033492 MONDO:0015802 False Coffin-Siris syndrome 6 autosomal dominant non-syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0033492 MONDO:0700120 False Coffin-Siris syndrome 6 BAFopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0033532 MONDO:0003847 False Suleiman-El-Hattab syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0033543 MONDO:0003847 False cone-rod synaptic disorder syndrome, congenital nonprogressive hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0033544 MONDO:0003847 False Tolchin-Le Caignec syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0033546 MONDO:0003847 False neurodegeneration, infantile-onset, biotin-responsive hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0033547 MONDO:0003847 False Li-Ghorbani-Weisz-Hubshman syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0033548 MONDO:0019952 False myopathy, congenital, with diaphragmatic defects, respiratory insufficiency, and dysmorphic facies congenital myopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS MONDO:0033554 MONDO:0017855 False immunodeficiency 73b with defective neutrophil chemotaxis and lymphopenia T-B- severe combined immunodeficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0033555 MONDO:0017855 False immunodeficiency 73c with defective neutrophil chemotaxis and hypogammaglobulinemia T-B- severe combined immunodeficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0033556 MONDO:0013049 False muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type B, 15 DPM3-congenital disorder of glycosylation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0033557 MONDO:0015541 False hemophagocytic lymphohistiocytosis, familial, 6 hereditary hemophagocytic lymphohistiocytosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0033558 MONDO:0003847 False autoinflammation, immune dysregulation, and eosinophilia hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0033559 MONDO:0003847 False intellectual developmental disorder with seizures and language delay hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0033560 MONDO:0003847 False mitochondrial complex 1 deficiency, nuclear type 35 hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0033561 MONDO:0003847 False deeah syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0033562 MONDO:0100500 False neurodevelopmental disorder with dysmorphic facies, impaired speech, and hypotonia Mendelian neurodevelopmental disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0033569 MONDO:0003847 False combined oxidative phosphorylation deficiency 49 hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0033570 MONDO:0003847 False combined oxidative phosphorylation deficiency 50 hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0033572 MONDO:0003847 False intellectual developmental disorder with epilepsy, behavioral abnormalities, and coarse facies hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0033613 MONDO:0016215 False neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities spastic quadriplegic cerebral palsy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0033613 MONDO:0100500 False neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities Mendelian neurodevelopmental disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -30993,36 +31492,21 @@ MONDO:0033667 MONDO:0003847 False Delpire-McNeill syndrome hereditary disease UN MONDO:0033672 MONDO:0002254 False Duane anomaly-myopathy-scoliosis syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0033672 MONDO:0005381 False Duane anomaly-myopathy-scoliosis syndrome bone disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0033672 MONDO:0006025 False Duane anomaly-myopathy-scoliosis syndrome autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0033682 MONDO:0015159 False skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0033682 MONDO:0015708 False skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome immuno-osseous dysplasia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0033682 MONDO:0019694 False skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome spondylodysplastic dysplasia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0033683 MONDO:0009332 False congenital progressive bone marrow failure-B-cell immunodeficiency-skeletal dysplasia syndrome congenital hematological disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0033683 MONDO:0015159 False congenital progressive bone marrow failure-B-cell immunodeficiency-skeletal dysplasia syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0033683 MONDO:0015708 False congenital progressive bone marrow failure-B-cell immunodeficiency-skeletal dysplasia syndrome immuno-osseous dysplasia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0033683 MONDO:0018234 False congenital progressive bone marrow failure-B-cell immunodeficiency-skeletal dysplasia syndrome dysostosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0033683 MONDO:0019054 False congenital progressive bone marrow failure-B-cell immunodeficiency-skeletal dysplasia syndrome congenital limb malformation UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0033683 MONDO:0019453 False congenital progressive bone marrow failure-B-cell immunodeficiency-skeletal dysplasia syndrome myelodysplastic syndrome with multilineage dysplasia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0033717 MONDO:0020043 False congenital cerebellar ataxia due to RNU12 mutation autosomal recessive congenital cerebellar ataxia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0033809 MONDO:0005328 False isolated blepharochalasis eye disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0033810 MONDO:0019503 False isolated iridoschisis anterior segment dysgenesis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0033816 MONDO:0000942 False thygeson superficial punctate keratopathy corneal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0033818 MONDO:0000942 False Terrien marginal degeneration corneal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0033821 MONDO:0020944 False fungal keratitis fungal infection of eye UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0033821 MONDO:0023865 False fungal keratitis corneal infection UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0033838 MONDO:0015923 False radiation-induced plexopathy acquired peripheral neuropathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0033838 MONDO:0024432 False radiation-induced plexopathy nerve plexus disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0033838 MONDO:0043459 False radiation-induced plexopathy radiation-induced disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0033839 MONDO:0006858 False osteoradionecrosis of the mandible mouth disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0033839 MONDO:0023369 False osteoradionecrosis of the mandible disorder of facial skeleton UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0033839 MONDO:0043735 False osteoradionecrosis of the mandible osteoradionecrosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0033850 MONDO:0006025 False autosomal recessive axonal charcot-marie-tooth disease due to copper metabolism defect autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0033850 MONDO:0017762 False autosomal recessive axonal charcot-marie-tooth disease due to copper metabolism defect disorder of copper metabolism UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0033853 MONDO:0002254 False congenital cataract-severe neonatal hepatopathy-global developmental delay syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0033853 MONDO:0003847 False congenital cataract-severe neonatal hepatopathy-global developmental delay syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0033856 MONDO:0000426 False LAMA5-related multisystemic syndrome autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0033856 MONDO:0005554 False LAMA5-related multisystemic syndrome rheumatic disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0033856 MONDO:0023603 False LAMA5-related multisystemic syndrome hereditary disorder of connective tissue UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0033862 MONDO:0019787 False primary autoimmune enteropathy autoimmune enteropathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0033864 MONDO:0002254 False infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0033864 MONDO:0003847 False infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0033864 MONDO:0005395 False infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome movement disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -31032,44 +31516,24 @@ MONDO:0033926 MONDO:0005071 False prepubertal anorexia nervosa nervous system di MONDO:0033926 MONDO:0005351 False prepubertal anorexia nervosa anorexia nervosa UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0033938 MONDO:0002254 False acute radiation syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0033938 MONDO:0020683 False acute radiation syndrome acute disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0033946 MONDO:0027749 False hereditary angioedema with C1Inh deficiency serpinopathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0033948 MONDO:0019624 False acquired angioedema with C1Inh deficiency acquired angioedema UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0033954 MONDO:0005570 False monoclonal mast cell activation syndrome hematologic disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0033968 MONDO:0003778 False immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections-lymphopenia syndrome inborn error of immunity UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0033954 MONDO:0002254 False monoclonal mast cell activation syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0033954 MONDO:0005046 False monoclonal mast cell activation syndrome immune system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0033968 MONDO:0006025 False immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections-lymphopenia syndrome autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0033969 MONDO:0003778 False inflammatory bowel disease-recurrent sinopulmonary infections syndrome inborn error of immunity UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0033980 MONDO:0003266 False RELA fusion-positive ependymoma ependymal tumor UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0034021 MONDO:0020066 False spondylodysplastic Ehlers-Danlos syndrome Ehlers-Danlos syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0034041 MONDO:0002320 False congenital axonal neuropathy with encephalopathy congenital nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0034041 MONDO:0004183 False congenital axonal neuropathy with encephalopathy axonal neuropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0034054 MONDO:0015974 False severe combined immunodeficiency due to CD70 deficiency severe combined immunodeficiency UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0034092 MONDO:0006025 False optic atrophy-ataxia-peripheral neuropathy-global developmental delay syndrome autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0034092 MONDO:0020127 False optic atrophy-ataxia-peripheral neuropathy-global developmental delay syndrome hereditary peripheral neuropathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0034092 MONDO:0044970 False optic atrophy-ataxia-peripheral neuropathy-global developmental delay syndrome mitochondrial disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0034099 MONDO:0015653 False SYNGAP1-related developmental and epileptic encephalopathy monogenic epilepsy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0034099 MONDO:0020071 False SYNGAP1-related developmental and epileptic encephalopathy infantile epilepsy syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0034103 MONDO:0001549 False infection-related hemolytic uremic syndrome hemolytic-uremic syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0034103 MONDO:0021669 False infection-related hemolytic uremic syndrome post-infectious disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0034106 MONDO:0002320 False developmental and epileptic encephalopathy, 73 congenital nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0034106 MONDO:0015159 False developmental and epileptic encephalopathy, 73 multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0034109 MONDO:0006025 False congenital myopathy with reduced type 2 muscle fibers autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0034109 MONDO:0019952 False congenital myopathy with reduced type 2 muscle fibers congenital myopathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS MONDO:0034110 MONDO:0005240 False atypical Fanconi syndrome-neonatal hyperinsulinism syndrome kidney disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0034121 MONDO:0006025 False NAD(P)HX dehydratase deficiency autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0034121 MONDO:0019052 False NAD(P)HX dehydratase deficiency inborn errors of metabolism UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0034127 MONDO:0019337 False IgA pemphigus autoimmune bullous skin disease UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0034142 MONDO:0015159 False pancreatic agenesis-holoprosencephaly syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0034143 MONDO:0017198 False early-onset calcifying leukoencephalopathy-skeletal dysplasia osteopetrosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0034143 MONDO:0019046 False early-onset calcifying leukoencephalopathy-skeletal dysplasia leukodystrophy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0034145 MONDO:0002254 False oculocerebrodental syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0034145 MONDO:0005308 False oculocerebrodental syndrome ciliopathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0034145 MONDO:0015159 False oculocerebrodental syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0034146 MONDO:0017847 False spastic ataxia-dysarthria due to glutaminase deficiency autosomal recessive spastic ataxia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0034146 MONDO:0600001 False spastic ataxia-dysarthria due to glutaminase deficiency glutaminase deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0034150 MONDO:0006769 False idiopathic gastroparesis gastroparesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0034150 MONDO:0700007 False idiopathic gastroparesis idiopathic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0034186 MONDO:0006025 False autosomal recessive extra-oral halitosis autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0034186 MONDO:0019222 False autosomal recessive extra-oral halitosis inborn disorder of methionine cycle and sulfur amino acid metabolism UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0034189 MONDO:0004789 False primary biliary cholangitis/primary sclerosing cholangitis and autoimmune hepatitis overlap syndrome cholangitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0034189 MONDO:0016264 False primary biliary cholangitis/primary sclerosing cholangitis and autoimmune hepatitis overlap syndrome autoimmune hepatitis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0034204 MONDO:0002254 False syndromic congenital sodium diarrhea syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -31085,13 +31549,11 @@ MONDO:0034823 MONDO:0003847 False oral-facial-digital syndrome with short statur MONDO:0034846 MONDO:0005020 False primary desmosis coli intestinal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0034895 MONDO:0002254 False congenital brachyesophagus-intrathoracic stomach-vertebral anomalies syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0034971 MONDO:0020159 False isolated congenital entropion congenital entropion UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0034976 MONDO:0018686 False iatrogenic Creutzfeldt-Jakob disease acquired Creutzfeldt-Jakob disease UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0034976 MONDO:0043544 False iatrogenic Creutzfeldt-Jakob disease nosocomial infection UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0034978 MONDO:0005283 False isolated foveal hypoplasia retinal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0034987 MONDO:0021040 False intraductal tubulopapillary neoplasm of pancreas pancreatic neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0034989 MONDO:0002254 False intellectual disability-cardiac anomalies-short stature-joint laxity syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0034991 MONDO:0002254 False intrauterine growth restriction-congenital multiple café-au-lait macules-increased sister chromatid exchange syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0035004 MONDO:0018162 False serine biosynthesis pathway deficiency, infantile/juvenile form neurometabolic disorder due to serine deficiency UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0035008 MONDO:0000831 False isolated splenic vein thrombosis thrombotic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0035008 MONDO:0004634 False isolated splenic vein thrombosis vein disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0035009 MONDO:0000831 False isolated mesenteric vein thrombosis thrombotic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -31102,67 +31564,33 @@ MONDO:0035027 MONDO:0002254 False microcephaly-facial dysmorphism-ocular anomali MONDO:0035027 MONDO:0003847 False microcephaly-facial dysmorphism-ocular anomalies-multiple congenital anomalies syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0035105 MONDO:0002254 False diaphragmatic hernia-short bowel-asplenia syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0035105 MONDO:0003847 False diaphragmatic hernia-short bowel-asplenia syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0035117 MONDO:0015653 False PUM1-associated developmental disability-ataxia-seizure syndrome monogenic epilepsy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0035117 MONDO:0019792 False PUM1-associated developmental disability-ataxia-seizure syndrome autosomal dominant cerebellar ataxia type I UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0035122 MONDO:0002254 False GRIN2B-related developmental delay, intellectual disability and autism spectrum disorder syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0035124 MONDO:0019287 False linear hypopigmentation and craniofacial asymmetry with acral, ocular and brain anomalies ectodermal dysplasia syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0035124 MONDO:0019290 False linear hypopigmentation and craniofacial asymmetry with acral, ocular and brain anomalies hypopigmentation of the skin UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0035133 MONDO:0002320 False PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome congenital nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0035133 MONDO:0003847 False PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0035133 MONDO:0015159 False PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0035136 MONDO:0002217 False isolated melanotic schwannoma central nervous system sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0035136 MONDO:0002558 False isolated melanotic schwannoma melanotic neurilemmoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0035136 MONDO:0021089 False isolated melanotic schwannoma peripheral nervous system cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0035136 MONDO:0100342 False isolated melanotic schwannoma malignant glioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0035149 MONDO:0016028 False secondary erythromelalgia erythromelalgia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0035151 MONDO:0016915 False 17q24.2 microdeletion syndrome partial deletion of the long arm of chromosome 17 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0035153 MONDO:0005372 False male infertility due to acephalic spermatozoa male infertility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0035159 MONDO:0005070 False dermoid or epidermoid cyst of the central nervous system neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0035161 MONDO:0015547 False progressive dementia with neuroserpin inclusion bodies hereditary dementia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0035173 MONDO:0016874 False 9q21.13 microdeletion syndrome partial deletion of chromosome 9 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0035220 MONDO:0019623 False PLG-related hereditary angioedema with normal C1inh hereditary angioedema UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0035235 MONDO:0018824 False classic pyoderma gangrenosum pyoderma gangrenosum UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0035236 MONDO:0018824 False pustular pyoderma gangrenosum pyoderma gangrenosum UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0035237 MONDO:0018824 False bullous pyoderma gangrenosum pyoderma gangrenosum UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0035238 MONDO:0018824 False vegetative pyoderma gangrenosum pyoderma gangrenosum UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0035290 MONDO:0016244 False atypical hemolytic uremic syndrome with complement gene abnormality atypical hemolytic-uremic syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0035293 MONDO:0034103 False streptococcus pneumoniae-associated hemolytic uremic syndrome infection-related hemolytic uremic syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0035295 MONDO:0018960 False congenital primary megaureter, refluxing and obstructed form congenital primary megaureter UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0035312 MONDO:0024477 False fibrohistiocytic inflammatory pseudotumor of the liver liver and intrahepatic bile duct neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0035313 MONDO:0024477 False lymphoplasmacytic inflammatory pseudotumor of the liver liver and intrahepatic bile duct neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0035320 MONDO:0003847 False early-onset familial hypoaldosteronism hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0035320 MONDO:0018541 False early-onset familial hypoaldosteronism familial hypoaldosteronism UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0035321 MONDO:0018541 False late-onset familial hypoaldosteronism familial hypoaldosteronism UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0035337 MONDO:0007473 False Duane retraction syndrome with congenital deafness Duane retraction syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0035344 MONDO:0005560 False acute bilirubin encephalopathy brain disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0035344 MONDO:0020683 False acute bilirubin encephalopathy acute disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0035345 MONDO:0005560 False chronic bilirubin encephalopathy brain disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0035349 MONDO:0006543 False localized dystrophic epidermolysis bullosa epidermolysis bullosa dystrophica UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0035350 MONDO:0029000 False letrozole toxicity poisoning UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0035357 MONDO:0002405 False portosinusoidal vascular disease hepatic vascular disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0035362 MONDO:0005265 False TRIM22-related inflammatory bowel disease inflammatory bowel disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0035370 MONDO:0005265 False ALPI-related inflammatory bowel disease inflammatory bowel disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0035375 MONDO:0100320 False multisystem inflammatory syndrome in children and adults post-COVID-19 disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0035383 MONDO:0005071 False FOXG1 syndrome nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0035400 MONDO:0016264 False seronegative autoimmune hepatitis autoimmune hepatitis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0035401 MONDO:0000819 False isolated anencephaly anencephaly UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0035402 MONDO:0002320 False isolated exencephaly congenital nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0035403 MONDO:0016092 False serous cystadenoma of childhood serous or mucinous cystadenoma of childhood UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0035404 MONDO:0016092 False mucinous cystadenoma of childhood serous or mucinous cystadenoma of childhood UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0035405 MONDO:0016092 False seromucinous cystadenoma of childhood serous or mucinous cystadenoma of childhood UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0035406 MONDO:0018941 False furuncular myiasis due to Dermatobia hominis furuncular myiasis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0035407 MONDO:0018941 False furuncular myiasis due to Cordylobia anthropophaga furuncular myiasis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0035408 MONDO:0018941 False furuncular myiasis due to Cordylobia rodhaini furuncular myiasis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0035410 MONDO:0013003 False isolated congenital aglossia isolated congenital hypoglossia/aglossia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0035411 MONDO:0013003 False isolated congenital hypoglossia isolated congenital hypoglossia/aglossia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0035423 MONDO:0015611 False triglyceride deposit cardiomyovasculopathy neutral lipid storage disease UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0035432 MONDO:0016971 False POMGNT2-related limb-girdle muscular dystrophy R24 limb-girdle muscular dystrophy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0035433 MONDO:0016971 False calpain-3-related limb-girdle muscular dystrophy D4 limb-girdle muscular dystrophy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0035437 MONDO:0019751 False CEBPE-associated autoinflammation-immunodeficiency-neutrophil dysfunction syndrome autoinflammatory syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0035441 MONDO:0100241 False congenital autosomal recessive small-platelet thrombocytopenia inherited thrombocytopenia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0035444 MONDO:0007950 False acute mast cell leukemia mastocytosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0035444 MONDO:0020683 False acute mast cell leukemia acute disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0035445 MONDO:0007950 False chronic mast cell leukemia mastocytosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0035447 MONDO:0024477 False liver adenomatosis liver and intrahepatic bile duct neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0035449 MONDO:0005560 False atelencephaly brain disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0035449 MONDO:0021147 False atelencephaly disorder of development or morphogenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -31172,68 +31600,42 @@ MONDO:0035452 MONDO:0005381 False mueller-weiss syndrome bone disorder UNSUPPORT MONDO:0035454 MONDO:0002254 False B-cell immunodeficiency-limb anomaly-urogenital malformation syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0035454 MONDO:0003847 False B-cell immunodeficiency-limb anomaly-urogenital malformation syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0035459 MONDO:0002350 False idiopathic multidrug-resistant nephrotic syndrome familial nephrotic syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0035459 MONDO:0018170 False idiopathic multidrug-resistant nephrotic syndrome idiopathic nephrotic syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0035460 MONDO:0018170 False idiopathic steroid-resistant nephrotic syndrome with sensitivity to second-line immunosuppressive therapy idiopathic nephrotic syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0035472 MONDO:0019175 False GJC2-related late-onset primary lymphedema primary lymphedema UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0035473 MONDO:0002254 False warts-immunodeficiency-lymphedema-anogenital dysplasia syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0035473 MONDO:0019175 False warts-immunodeficiency-lymphedema-anogenital dysplasia syndrome primary lymphedema UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0035474 MONDO:0019175 False PIEZO1-related generalized lymphatic dysplasia with non-immune hydrops fetalis primary lymphedema UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0035475 MONDO:0019175 False EPHB4-related lymphatic-related hydrops fetalis primary lymphedema UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0035499 MONDO:0019175 False CELSR1-related late-onset primary lymphedema primary lymphedema UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0035500 MONDO:0019313 False congenital primary lymphedema of Gordon lymphatic malformation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0035511 MONDO:0029000 False ricin poisoning poisoning UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0035521 MONDO:0016868 False blepharophimosis-ptosis-epicanthus inversus syndrome plus partial deletion of chromosome 3 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0035524 MONDO:0007201 False blepharophimosis-ptosis-epicanthus inversus syndrome type 1 blepharophimosis, ptosis, and epicanthus inversus syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0035525 MONDO:0007201 False blepharophimosis-ptosis-epicanthus inversus syndrome type 2 blepharophimosis, ptosis, and epicanthus inversus syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0035529 MONDO:0003847 False infantile-onset pulmonary alveolar proteinosis-hypogammaglobulinemia hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0035529 MONDO:0005087 False infantile-onset pulmonary alveolar proteinosis-hypogammaglobulinemia respiratory system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0035534 MONDO:0003847 False DONSON-related microcephaly-short stature-limb abnormalities spectrum hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0035540 MONDO:0021227 False pheochromocytoma-paraganglioma adrenal gland neoplasm UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0035547 MONDO:0020573 False predisposition to severe viral infection due to IRF7 deficiency inherited disease susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0035548 MONDO:0020573 False autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial jak1 deficiency inherited disease susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0035551 MONDO:0003847 False cathepsin a-related arteriopathy-strokes-leukoencephalopathy hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0035551 MONDO:0011057 False cathepsin a-related arteriopathy-strokes-leukoencephalopathy cerebrovascular disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0035562 MONDO:0018926 False acquired human prion disease human prion disease UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0035584 MONDO:0005328 False punctate inner choroidopathy eye disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0035586 MONDO:0002254 False Cramp-fasciculation syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0035592 MONDO:0006574 False congenital infiltrating lipomatosis of the face lipomatosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0035614 MONDO:0005429 False sporadic fatal insomnia prion disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0035614 MONDO:0018926 False sporadic fatal insomnia human prion disease UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0035614 MONDO:0024237 False sporadic fatal insomnia inherited neurodegenerative disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0035639 MONDO:0017893 False mixed phenotype acute leukemia with t(9;22)(q34.1;q11.2) inherited acute myeloid leukemia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0035639 MONDO:0020743 False mixed phenotype acute leukemia with t(9;22)(q34.1;q11.2) mixed phenotype acute leukemia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0035642 MONDO:0017893 False mixed phenotype acute leukemia with t(v;11q23.3) inherited acute myeloid leukemia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0035646 MONDO:0008056 False congenital-onset Steinert myotonic dystrophy myotonic dystrophy type 1 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0035647 MONDO:0016107 False childhood-onset Steinert myotonic dystrophy myotonic dystrophy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0035648 MONDO:0016107 False juvenile-onset Steinert myotonic dystrophy myotonic dystrophy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0035649 MONDO:0016107 False adult-onset Steinert myotonic dystrophy myotonic dystrophy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0035650 MONDO:0016107 False late-onset Steinert myotonic dystrophy myotonic dystrophy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0035651 MONDO:0002254 False choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0035651 MONDO:0003847 False choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0035660 MONDO:0003847 False GNAO1-related developmental delay-seizures-movement disorder spectrum hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0035661 MONDO:0002254 False TRAF7-associated heart defect-digital anomalies-facial dysmorphism-motor and speech delay syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0035661 MONDO:0003847 False TRAF7-associated heart defect-digital anomalies-facial dysmorphism-motor and speech delay syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0035663 MONDO:0019100 False neuromyelitis optica spectrum disorder with anti-AQP4 antibodies neuromyelitis optica UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0035664 MONDO:0019100 False neuromyelitis optica spectrum disorder with anti-MOG antibodies neuromyelitis optica UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0035665 MONDO:0019100 False neuromyelitis optica spectrum disorder without anti-MOG and without anti-AQP4 antibodies neuromyelitis optica UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0035666 MONDO:0015342 False acute transverse myelitis with anti-MOG antibodies acute transverse myelitis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0035667 MONDO:0044688 False isolated optic neuritis without anti-MOG antibodies isolated optic neuritis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0035668 MONDO:0044688 False isolated optic neuritis with anti-MOG antibodies isolated optic neuritis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0035669 MONDO:0019383 False acute disseminated encephalomyelitis with anti-MOG antibodies acute disseminated encephalomyelitis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0035670 MONDO:0019383 False acute disseminated encephalomyelitis without anti-MOG antibodies acute disseminated encephalomyelitis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0035678 MONDO:0021171 False Timothy syndrome type 1 Timothy syndrome, classic type UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0035679 MONDO:0021171 False Timothy syndrome type 2 Timothy syndrome, classic type UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0035694 MONDO:0015131 False combined immunodeficiency due to RELA haploinsufficiency combined immunodeficiency UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0035696 MONDO:0035357 False incomplete septal cirrhosis portosinusoidal vascular disease UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0035706 MONDO:0000508 False SETD2-related microcephaly-severe intellectual disability-multiple congenital anomalies syndrome syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0035706 MONDO:0800477 False SETD2-related microcephaly-severe intellectual disability-multiple congenital anomalies syndrome SETD2-related neurodevelopmental disorder without or with macrocephaly/overgrowth UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0035707 MONDO:0002254 False blepharophimosis-intellectual disability syndrome/genitopatellar overlap syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0035713 MONDO:0100040 False FOXG1 syndrome due to intragenic alteration FOXG1 disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0035734 MONDO:0019623 False hereditary angioedema with normal C1inh not related to F12 or PLG variant hereditary angioedema UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0035735 MONDO:0019139 False acquired hemophilia A acquired hemophilia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0035736 MONDO:0019139 False acquired hemophilia B acquired hemophilia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0035737 MONDO:0020586 False acquired factor V deficiency factor V deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0035737 MONDO:0020599 False acquired factor V deficiency acquired coagulation factor deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0035738 MONDO:0002244 False acquired factor VII deficiency factor VII deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0035738 MONDO:0020599 False acquired factor VII deficiency acquired coagulation factor deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0035740 MONDO:0019139 False acquired factor XI deficiency acquired hemophilia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0035740 MONDO:0020587 False acquired factor XI deficiency factor XI deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0035742 MONDO:0002242 False factor V short isoforms-related bleeding disorder coagulation protein disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0035743 MONDO:0002242 False factor V amsterdam bleeding disorder coagulation protein disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0035759 MONDO:0002242 False factor V atlanta bleeding disorder coagulation protein disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -31244,24 +31646,18 @@ MONDO:0035775 MONDO:0002254 False CCNK-related neurodevelopmental disorder-sever MONDO:0035775 MONDO:0003847 False CCNK-related neurodevelopmental disorder-severe intellectual disability-facial dysmorphism syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0035776 MONDO:0002242 False combined deficiency of factor VII and factor X coagulation protein disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0035777 MONDO:0001751 False parenteral nutrition-associated cholestasis cholestasis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0035782 MONDO:0019938 False non-syndromic anorectal malformation with rectourethral fistula, bulbar type anorectal malformation UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0035783 MONDO:0019938 False non-syndromic anorectal malformation with rectourethral fistula, prostatic type anorectal malformation UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0035819 MONDO:0002254 False cerebellar hypoplasia-intellectual disability-congenital microcephaly-dystonia-anemia-growth retardation syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0035821 MONDO:0005345 False isolated female hypospadias hypospadias UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0035823 MONDO:0002254 False KLHL7-related Bohring-Opitz-like syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0035823 MONDO:0003847 False KLHL7-related Bohring-Opitz-like syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0035824 MONDO:0002254 False KLHL7-related cold-induced sweating-like syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0035826 MONDO:0010683 False symptomatic form of X-linked centronuclear myopathy in female carriers X-linked myotubular myopathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0035838 MONDO:0015564 False idiopathic multicentric Castleman disease Castleman disease UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0035875 MONDO:0029000 False ivermectin toxicity poisoning UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0035876 MONDO:0029000 False belinostat toxicity or dose selection poisoning UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0035879 MONDO:0005093 False granuloma faciale skin disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0035882 MONDO:0024575 False chronic intervillositis of unknown etiology pregnancy disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0035892 MONDO:0020129 False Mills syndrome acquired motor neuron disease UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0035930 MONDO:0000179 False neu-laxova syndrome due to 3-phosphoserine phosphatase deficiency Neu-Laxova syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0036025 MONDO:0029000 False toxicity to dolutegravir poisoning UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0036042 MONDO:0002254 False KAT6B-related multiple congenital anomalies syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0036042 MONDO:0015159 False KAT6B-related multiple congenital anomalies syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0036045 MONDO:0005333 False euthyroid dysprealbuminemic hyperthyroxinemia hyperthyroxinemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0036189 MONDO:0002254 False oculogastrointestinal-neurodevelopmental syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0036189 MONDO:0003847 False oculogastrointestinal-neurodevelopmental syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -31269,15 +31665,10 @@ MONDO:0036193 MONDO:0003847 False parkinsonism with polyneuropathy hereditary di MONDO:0036193 MONDO:0021095 False parkinsonism with polyneuropathy parkinsonian disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0036212 MONDO:0002254 False spastic paraparesis-cataracts-speech delay syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0036212 MONDO:0003847 False spastic paraparesis-cataracts-speech delay syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0036217 MONDO:0032931 False lethal pontocerebellar hypoplasia-hypotonia-respiratory insufficiency syndrome due to a point mutation pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome, neonatal lethal UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0036218 MONDO:0032931 False lethal pontocerebellar hypoplasia-hypotonia-respiratory insufficiency syndrome due to biallelic deletions in the ATAD3 gene cluster pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome, neonatal lethal UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0036484 MONDO:0018778 False Charcot-Marie-Tooth disease, dominant intermediate G intermediate Charcot-Marie-Tooth disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0036591 MONDO:0002816 False adrenal cortex neoplasm adrenal cortex disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0036696 MONDO:0021223 False spleen neoplasm digestive system neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0036870 MONDO:0005833 False lymphatic vessel neoplasm lymphatic system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0036918 MONDO:0019268 False punctate acrokeratoderma freckle-like pigmentation epidermal disease UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0036990 MONDO:0024988 False benign Leydig cell tumor sex cord-stromal benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0037149 MONDO:0010327 False HSD10 disease, atypical type HSD10 mitochondrial disease UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0037251 MONDO:0002332 False congestive splenomegaly splenic disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0037398 MONDO:0004652 False pneumonia caused by pseudomonas aeruginosa infection bacterial pneumonia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0037398 MONDO:0040732 False pneumonia caused by pseudomonas aeruginosa infection Pseudomonas aeruginosa infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -31288,6 +31679,7 @@ MONDO:0037739 MONDO:0056804 False benign neoplasm of cauda equina benign neoplas MONDO:0037742 MONDO:0021148 False endometrioid stromal and related neoplasms female reproductive system neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0037744 MONDO:0021580 False neoplasm of retromolar area neoplasm of jaw UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0037747 MONDO:0021178 False spinal injury injury UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0037748 MONDO:0005066 False hyperlipoproteinemia metabolic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0037792 MONDO:0005066 False carbohydrate metabolism disease metabolic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0037807 MONDO:0037792 False glycerol metabolism disease carbohydrate metabolism disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0037821 MONDO:0005066 False porphyrin metabolism disease metabolic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -31295,6 +31687,7 @@ MONDO:0037829 MONDO:0005066 False purine metabolism disease metabolic disease UN MONDO:0037847 MONDO:0000812 False vertebral joint disorder vertebral column disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0037847 MONDO:0006816 False vertebral joint disorder arthropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0037858 MONDO:0000688 False inherited fatty acid metabolism disorder inborn organic aciduria UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0037858 MONDO:0002525 False inherited fatty acid metabolism disorder inherited lipid metabolism disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0037858 MONDO:0019189 False inherited fatty acid metabolism disorder inborn disorder of amino acid and other organic acid metabolism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0037870 MONDO:0037871 False valine metabolism disease amino acid metabolism disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0037871 MONDO:0045022 False amino acid metabolism disease disorder of organic acid metabolism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -31327,6 +31720,7 @@ MONDO:0040753 MONDO:0018076 False latent tuberculosis infection tuberculosis UNS MONDO:0040871 MONDO:0040870 False psychogenic polydipsia primary polydipsia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0040922 MONDO:0005822 False latent early syphilis latent syphilis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0040923 MONDO:0004497 False late latent syphilis tertiary syphilis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0040923 MONDO:0005822 False late latent syphilis latent syphilis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0040925 MONDO:0006019 False latent yaws yaws UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0040998 MONDO:0005901 False Pasteurella multocida infectious disease pasteurellosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0041052 MONDO:0021677 False postherpetic neuralgia post-infectious neuralgia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -31373,6 +31767,7 @@ MONDO:0041903 MONDO:0004277 False gonococcal infection of joint gonorrhea UNSUPP MONDO:0041903 MONDO:0004471 False gonococcal infection of joint bacterial arthritis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0041959 MONDO:0002887 False fibrosis of bile duct bile duct disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0041996 MONDO:0023305 False thallium poisoning heavy metal poisoning UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0042233 MONDO:0002026 False disseminated candidiasis candidiasis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0042233 MONDO:0045033 False disseminated candidiasis opportunistic systemic mycosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0042370 MONDO:0007023 False Yersinia enterocolitica infectious disease Yersinia infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0042433 MONDO:0000565 False mycotic endocarditis infective endocarditis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -31385,7 +31780,7 @@ MONDO:0042458 MONDO:0019444 False Trichinella spiralis infectious disease trichi MONDO:0042484 MONDO:0000256 False disseminated sporotrichosis systemic mycosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0042484 MONDO:0005968 False disseminated sporotrichosis sporotrichosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0042485 MONDO:0005550 False infective arthritis infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0042487 MONDO:0004710 False uterine cervix carcinoma in situ uterus carcinoma in situ UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0042485 MONDO:0005578 False infective arthritis arthritic joint disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0042488 MONDO:0004664 False Cestode infectious disease helminthiasis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0042490 MONDO:0008742 False neutropenia, severe congenital, 1, autosomal dominant autosomal dominant severe congenital neutropenia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0042495 MONDO:0002277 False arteriosclerotic retinopathy arteriosclerosis disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -31426,11 +31821,12 @@ MONDO:0042972 MONDO:0005373 False meningococcemia meningococcal infection UNSUPP MONDO:0042974 MONDO:0005940 False parainfluenza virus type 3 infectious disease respirovirus infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0042974 MONDO:0100197 False parainfluenza virus type 3 infectious disease parainfluenza infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0042975 MONDO:0007037 False pseudoachondroplastic dysplasia 2 Achondroplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0042976 MONDO:0024298 False vitamin B deficiency vitamin deficiency disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0042977 MONDO:0011114 False trichoepithelioma, multiple familial, 1 familial multiple trichoepithelioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0042979 MONDO:0008223 False hypokalemic periodic paralysis, type 1 hypokalemic periodic paralysis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0042980 MONDO:0007739 False Westphal disease Huntington disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0042981 MONDO:0003803 False aortic valve stenosis aortic valve disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0042981 MONDO:0021147 False aortic valve stenosis disorder of development or morphogenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0042982 MONDO:0021094 False GATA2 deficiency with susceptibility to MDS/AML immunodeficiency disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0042983 MONDO:0005071 False neurocutaneous syndrome nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0043003 MONDO:0007035 False familial acanthosis nigricans acanthosis nigricans UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0043003 MONDO:0100118 False familial acanthosis nigricans hereditary skin disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -31458,6 +31854,7 @@ MONDO:0043096 MONDO:0022357 False holoacardius amorphus congenital acardia UNSUP MONDO:0043099 MONDO:0006936 False Hordnes Engebretsen Knudtson syndrome pulmonary valve stenosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0043099 MONDO:0015469 False Hordnes Engebretsen Knudtson syndrome craniosynostosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0043101 MONDO:0002150 False hypothalamic dysfunction hypothalamic disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0043103 MONDO:0018612 False hypothyroidism due to iodide transport defect congenital hypothyroidism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0043106 MONDO:0002254 False ichthyosis linearis circumflexa syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0043106 MONDO:0006025 False ichthyosis linearis circumflexa autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0043106 MONDO:0015947 False ichthyosis linearis circumflexa inherited ichthyosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -31483,9 +31880,6 @@ MONDO:0043139 MONDO:0001386 False microcephaly sparse hair intellectual disabili MONDO:0043139 MONDO:0004907 False microcephaly sparse hair intellectual disability seizures alopecia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0043141 MONDO:0008797 False microdontia hypodontia short stature anodontia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0043141 MONDO:0015514 False microdontia hypodontia short stature hereditary endocrine growth disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0043143 MONDO:0015168 False microphthalmia microtia fetal akinesia arthrogryposis multiplex congenita UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0043143 MONDO:0016073 False microphthalmia microtia fetal akinesia syndromic microphthalmia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0043143 MONDO:0043009 False microphthalmia microtia fetal akinesia hereditary lethal multiple congenital anomalies/dysmorphic syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0043152 MONDO:0005578 False negative rheumatoid factor polyarthritis arthritic joint disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0043154 MONDO:0003282 False neonatal ovarian cyst ovarian cyst UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0043156 MONDO:0005377 False nephrotic syndrome ocular anomalies nephrotic syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -31516,9 +31910,11 @@ MONDO:0043206 MONDO:0006566 False trichostasis spinulosa keratosis UNSUPPORTED-M MONDO:0043207 MONDO:0001556 False urethral obstruction sequence urethral obstruction UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0043207 MONDO:0018559 False urethral obstruction sequence fetal lower urinary tract obstruction UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0043209 MONDO:0004736 False albinism inborn disorder of amino acid metabolism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0043218 MONDO:0005071 False neurovascular disorder nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0043218 MONDO:0005385 False neurovascular disorder vascular disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0043219 MONDO:0005475 False migraine with brainstem aura migraine with aura UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0043224 MONDO:0002679 False multi-infarct dementia cerebral infarction UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0043224 MONDO:0004648 False multi-infarct dementia vascular dementia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0043226 MONDO:0002657 False postpartum amenorrhea-galactorrhea syndrome breast disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0043226 MONDO:0009256 False postpartum amenorrhea-galactorrhea syndrome galactorrhea UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0043226 MONDO:0014250 False postpartum amenorrhea-galactorrhea syndrome familial hyperprolactinemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -31528,6 +31924,11 @@ MONDO:0043230 MONDO:0029000 False ciguatera fish poisoning poisoning UNSUPPORTED MONDO:0043233 MONDO:0002406 False exfoliative dermatitis dermatitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0043237 MONDO:0001165 False glossodynia tongue disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0043237 MONDO:0700057 False glossodynia neurological pain disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0043240 MONDO:0005578 False hemophilic arthropathy arthritic joint disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0043243 MONDO:0021074 False leukoplakia precancerous condition UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0043247 MONDO:0002254 False Mallory-Weiss syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0043251 MONDO:0006499 False odontoma hamartoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0043251 MONDO:0006858 False odontoma mouth disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0043251 MONDO:0021223 False odontoma digestive system neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0043254 MONDO:0005492 False papular urticaria urticaria UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0043254 MONDO:0006617 False papular urticaria vesiculobullous skin disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -31540,14 +31941,19 @@ MONDO:0043277 MONDO:0700013 False mosaic trisomy 6 chromosome 6 disorder UNSUPPO MONDO:0043277 MONDO:0700065 False mosaic trisomy 6 trisomy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0043280 MONDO:0005071 False Wallerian degeneration nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0043283 MONDO:0005960 False silicosiderosis silicosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0043287 MONDO:0002254 False superior vena cava syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0043287 MONDO:0005385 False superior vena cava syndrome vascular disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0043291 MONDO:0004868 False Rokitansky-Aschoff sinuses of the gallbladder biliary tract disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0043291 MONDO:0005281 False Rokitansky-Aschoff sinuses of the gallbladder gallbladder disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0043294 MONDO:0019562 False linear scleroderma localized scleroderma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0043297 MONDO:0007014 False vibrio vulnificus infectious disease vibrio infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0043300 MONDO:0002102 False actinic cheilitis cheilitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0043303 MONDO:0021205 False hyperacusis disorder of ear UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0043303 MONDO:0024422 False hyperacusis auditory perceptual disorders UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0043310 MONDO:0001941 False amaurosis fugax blindness (disorder) UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0043314 MONDO:0020590 False aquarium granuloma mycobacterial infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0043314 MONDO:0024295 False aquarium granuloma skin disease caused by bacterial infection UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0043317 MONDO:0016367 False amyopathic dermatomyositis dermatomyositis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0043320 MONDO:0002254 False piriformis syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0043320 MONDO:0003615 False piriformis syndrome nerve compression syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0043320 MONDO:0024333 False piriformis syndrome sciatica UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0043327 MONDO:0002602 False cerebrospinal fluid leak central nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -31558,33 +31964,50 @@ MONDO:0043346 MONDO:0005062 False progressive transformation of germinal centers MONDO:0043349 MONDO:0024461 False intravascular papillary endothelial hyperplasia angiomatosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0043352 MONDO:0003150 False fournier gangrene male reproductive system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0043352 MONDO:0005113 False fournier gangrene bacterial infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0043355 MONDO:0004966 False collagenous gastritis gastritis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0043358 MONDO:0002254 False engraftment syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0043358 MONDO:0700222 False engraftment syndrome disease related to hematopoietic stem cell transplant UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0043361 MONDO:0005294 False May-Thurner syndrome peripheral vascular disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0043364 MONDO:0004805 False eosinophil peroxidase deficiency leukocyte disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0043364 MONDO:0006025 False eosinophil peroxidase deficiency autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0043370 MONDO:0000004 False secondary adrenal insufficiency adrenocortical insufficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0043373 MONDO:0020677 False sudden sensorineural hearing loss sudden hearing loss disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0043373 MONDO:0020678 False sudden sensorineural hearing loss sensorineural hearing loss disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0043377 MONDO:0005306 False juvenile spondyloarthropathy ankylosing spondylitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0043424 MONDO:0004335 False digestive system infectious disorder digestive system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0043424 MONDO:0005550 False digestive system infectious disorder infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0043452 MONDO:0700015 False chromosome 8, trisomy chromosome 8 disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0043452 MONDO:0700065 False chromosome 8, trisomy trisomy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0043455 MONDO:0001566 False humoral hypercalcemia of malignancy hypercalcemia disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0043455 MONDO:0021073 False humoral hypercalcemia of malignancy paraneoplastic syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0043458 MONDO:0021178 False radiation injury injury UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0043459 MONDO:0700096 False radiation-induced disorder human disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0043465 MONDO:0004298 False achlorhydria stomach disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0043468 MONDO:0005348 False acne keloid keloid UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0043468 MONDO:0006552 False acne keloid folliculitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0043472 MONDO:0005495 False ectopic ACTH secretion syndrome adrenal gland disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0043472 MONDO:0021058 False ectopic ACTH secretion syndrome neoplastic syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0043475 MONDO:0002254 False Adams-Stokes syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0043475 MONDO:0008848 False Adams-Stokes syndrome atrioventricular dissociation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0043479 MONDO:0100329 False adenoviridae infectious disease primary viral infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0043494 MONDO:0000473 False arteritis arterial disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0043494 MONDO:0018882 False arteritis vasculitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0043510 MONDO:0005560 False brain injury brain disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0043510 MONDO:0044745 False brain injury nervous system injury UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0043512 MONDO:0005560 False traumatic encephalopathy brain disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0043519 MONDO:0021178 False burn injury UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0043523 MONDO:0029000 False cadmium poisoning poisoning UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0043529 MONDO:0005267 False carcinoid heart disease heart disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0043537 MONDO:0005560 False cluster headache syndrome brain disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0043537 MONDO:0015530 False cluster headache syndrome trigeminal autonomic cephalalgia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0043541 MONDO:0003799 False viral conjunctivitis conjunctivitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0043541 MONDO:0020950 False viral conjunctivitis viral eye infection UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0043543 MONDO:0700096 False iatrogenic disease human disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0043544 MONDO:0005550 False nosocomial infection infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0043544 MONDO:0043543 False nosocomial infection iatrogenic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0043549 MONDO:0005240 False crush syndrome kidney disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0043555 MONDO:0001517 False infantile diarrhea dysentery UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0043576 MONDO:0043494 False endarteritis arteritis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0043579 MONDO:0002269 False enteritis gastroenteritis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0043579 MONDO:0024635 False enteritis small intestine disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0043589 MONDO:0005327 False femoral neck fracture hip fracture UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -31592,16 +32015,25 @@ MONDO:0043653 MONDO:0004609 False herpes labialis herpes simplex infectious dise MONDO:0043653 MONDO:0004748 False herpes labialis lip disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0043653 MONDO:0100330 False herpes labialis disease arising from reactivation of latent virus UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0043678 MONDO:0019040 False chromosome inversion disorder chromosomal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0043683 MONDO:0002254 False Leriche syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0043683 MONDO:0005561 False Leriche syndrome aortic disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0043693 MONDO:0005154 False alcoholic liver diseases liver disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0043693 MONDO:0021699 False alcoholic liver diseases alcohol-induced disorders UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0043723 MONDO:0005322 False Monteggia's fracture ulna fracture UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0043726 MONDO:0002254 False multiple organ dysfunction syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0043731 MONDO:0000837 False lytic metastatic bone lesion bone resorption disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0043735 MONDO:0005380 False osteoradionecrosis osteonecrosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0043735 MONDO:0043459 False osteoradionecrosis radiation-induced disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0043759 MONDO:0000755 False abdominal ectopic pregnancy ectopic pregnancy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0043762 MONDO:0000755 False tubal pregnancy ectopic pregnancy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0043762 MONDO:0002156 False tubal pregnancy fallopian tube disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0043765 MONDO:0005365 False presbycusis hearing loss disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0043768 MONDO:0002049 False thrombocytopenic purpura thrombocytopenia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0043768 MONDO:0002610 False thrombocytopenic purpura purpura UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0043768 MONDO:0005046 False thrombocytopenic purpura immune system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0043768 MONDO:0019737 False thrombocytopenic purpura thrombotic microangiopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0043771 MONDO:0002406 False radiodermatitis dermatitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0043771 MONDO:0043459 False radiodermatitis radiation-induced disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0043775 MONDO:0005728 False respiratory paralysis diaphragm disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0043775 MONDO:0006496 False respiratory paralysis palsy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0043775 MONDO:0021113 False respiratory paralysis respiratory failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -31609,6 +32041,7 @@ MONDO:0043777 MONDO:0006604 False rhinophyma rosacea UNSUPPORTED-MISSING UNSUPPO MONDO:0043777 MONDO:0006607 False rhinophyma sebaceous gland disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0043783 MONDO:0005093 False sclerema neonatorum skin disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0043786 MONDO:0021166 False serositis inflammatory disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0043789 MONDO:0002459 False serum sickness type IV hypersensitivity disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0043789 MONDO:0007004 False serum sickness type III hypersensitivity disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0043797 MONDO:0000812 False spinal cord injury vertebral column disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0043797 MONDO:0002545 False spinal cord injury spinal cord disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -31617,15 +32050,22 @@ MONDO:0043797 MONDO:0044745 False spinal cord injury nervous system injury UNSUP MONDO:0043836 MONDO:0000812 False tuberculosis, spinal vertebral column disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0043836 MONDO:0005962 False tuberculosis, spinal skeletal tuberculosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0043839 MONDO:0700096 False ulcer disease human disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0043862 MONDO:0004382 False voice disorders laryngeal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0043875 MONDO:0005066 False tumor lysis syndrome metabolic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0043875 MONDO:0021058 False tumor lysis syndrome neoplastic syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0043878 MONDO:0001084 False hereditary optic atrophy primary optic atrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0043878 MONDO:0024237 False hereditary optic atrophy inherited neurodegenerative disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0043885 MONDO:0005328 False eye infectious disorder eye disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0043885 MONDO:0005550 False eye infectious disorder infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0043892 MONDO:0005550 False prosthesis-related infectious disease infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0043895 MONDO:0021178 False ankle injury injury UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0043904 MONDO:0005446 False leishmaniasis, diffuse cutaneous cutaneous leishmaniasis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0043905 MONDO:0005275 False pneumonitis lung disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0043905 MONDO:0021166 False pneumonitis inflammatory disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0043919 MONDO:0015925 False radiation pneumonitis interstitial lung disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0043919 MONDO:0043459 False radiation pneumonitis radiation-induced disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0043919 MONDO:0043905 False radiation pneumonitis pneumonitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0043923 MONDO:0006572 False lichen planus, oral lichen planus UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0043923 MONDO:0006858 False lichen planus, oral mouth disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0043953 MONDO:0021678 False burkholderia infectious disease gram-negative bacterial infections UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0043959 MONDO:0005833 False pseudolymphoma lymphatic system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -31637,26 +32077,34 @@ MONDO:0043985 MONDO:0000568 False central nervous system lupus autoimmune disord MONDO:0043985 MONDO:0007915 False central nervous system lupus systemic lupus erythematosus UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0043988 MONDO:0005609 False zoster sine herpete herpes zoster UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0043994 MONDO:0001930 False acute cholecystitis acute cholangitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0043994 MONDO:0002155 False acute cholecystitis cholecystitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0044001 MONDO:0005365 False hearing loss, mixed conductive-sensorineural hearing loss disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0044013 MONDO:0700003 False puerperal disorder obstetric disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0044014 MONDO:0005623 False postpartum thyroiditis autoimmune thyroid disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0044014 MONDO:0044013 False postpartum thyroiditis puerperal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0044033 MONDO:0002254 False posterior leukoencephalopathy syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0044033 MONDO:0006796 False posterior leukoencephalopathy syndrome hypertensive encephalopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0044037 MONDO:0005294 False livedo reticularis peripheral vascular disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0044037 MONDO:0019293 False livedo reticularis skin vascular disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0044067 MONDO:0002026 False candidiasis, invasive candidiasis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0044070 MONDO:0044067 False candidemia candidiasis, invasive UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0044079 MONDO:0002254 False cardio-renal syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0044079 MONDO:0005252 False cardio-renal syndrome heart failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0044083 MONDO:0002041 False alternariosis fungal infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0044092 MONDO:0005020 False collagenous sprue intestinal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0044092 MONDO:0005066 False collagenous sprue metabolic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0044098 MONDO:0000755 False ovarian ectopic pregnancy ectopic pregnancy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0044098 MONDO:0005558 False ovarian ectopic pregnancy ovarian disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0044101 MONDO:0000755 False pregnancy, cornual ectopic pregnancy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0044101 MONDO:0002654 False pregnancy, cornual uterine disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0044113 MONDO:0005282 False bullous systemic lupus erythematosus cutaneous lupus erythematosus UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0044113 MONDO:0007915 False bullous systemic lupus erythematosus systemic lupus erythematosus UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0044137 MONDO:0005328 False vitreous body disorder eye disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0044138 MONDO:0006806 False hyalitis intermediate uveitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0044138 MONDO:0044137 False hyalitis vitreous body disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0044141 MONDO:0005383 False panic disorder without agoraphobia panic disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0044144 MONDO:0003709 False panic disorder with agoraphobia agoraphobia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0044144 MONDO:0005383 False panic disorder with agoraphobia panic disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0044200 MONDO:0015974 False T-B+ severe combined immunodeficiency severe combined immunodeficiency UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0044201 MONDO:0015974 False T+ B+ severe combined immunodeficiency severe combined immunodeficiency UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0044202 MONDO:0015427 False episodic kinesigenic dyskinesia paroxysmal dyskinesia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0044203 MONDO:0003847 False foveal hypoplasia hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0044209 MONDO:0003832 False disorder of lectin complement activation pathway complement deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0044210 MONDO:0013517 False thalassemia minor beta-thalassemia HBB/LCRB UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -31665,16 +32113,12 @@ MONDO:0044212 MONDO:0044211 False chronic idiopathic urticaria idiopathic urtica MONDO:0044213 MONDO:0020683 False acute idiopathic urticaria acute disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0044213 MONDO:0044211 False acute idiopathic urticaria idiopathic urticaria UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0044299 MONDO:0002320 False myasthenic syndrome, congenital, 22 congenital nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0044300 MONDO:0016362 False familial adenomatous polyposis 4 attenuated familial adenomatous polyposis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0044301 MONDO:0020573 False aortic aneurysm, familial thoracic 11, susceptibility to inherited disease susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0044302 MONDO:0003847 False congenital heart defects, dysmorphic facial features, and intellectual developmental disorder hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0044303 MONDO:0003847 False congenital heart defects and ectodermal dysplasia hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0044304 MONDO:0006025 False hyperphenylalaninemia due to DNAJC12 deficiency autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0044304 MONDO:0019189 False hyperphenylalaninemia due to DNAJC12 deficiency inborn disorder of amino acid and other organic acid metabolism UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0044304 MONDO:0037871 False hyperphenylalaninemia due to DNAJC12 deficiency amino acid metabolism disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0044306 MONDO:0015653 False neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination monogenic epilepsy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0044306 MONDO:0100500 False neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination Mendelian neurodevelopmental disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0044311 MONDO:0003847 False brachycephaly, trichomegaly, and developmental delay hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0044312 MONDO:0016761 False immunoskeletal dysplasia with neurodevelopmental abnormalities spondyloepiphyseal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0044315 MONDO:0020573 False craniosynostosis 7 inherited disease susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0044316 MONDO:0003847 False thrombocytopenia, anemia, and myelofibrosis hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -31682,8 +32126,6 @@ MONDO:0044318 MONDO:0000508 False intellectual developmental disorder with gastr MONDO:0044318 MONDO:0700092 False intellectual developmental disorder with gastrointestinal difficulties and high pain threshold neurodevelopmental disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0044319 MONDO:0000508 False intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0044319 MONDO:0002320 False intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies congenital nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0044319 MONDO:0015159 False intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0044319 MONDO:0015653 False intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies monogenic epilepsy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0044321 MONDO:0003847 False structural heart defects and renal anomalies syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0044321 MONDO:0015161 False structural heart defects and renal anomalies syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0044322 MONDO:0000508 False intellectual developmental disorder with neuropsychiatric features syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -31692,116 +32134,65 @@ MONDO:0044324 MONDO:0000508 False Al Kaissi syndrome syndromic intellectual disa MONDO:0044326 MONDO:0700092 False developmental delay and seizures with or without movement abnormalities neurodevelopmental disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0044329 MONDO:0800064 False osteogenesis imperfecta, type 18 osteogenesis imperfecta and a reduction of bone mineral density. UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0044332 MONDO:0005395 False childhood-onset benign chorea with striatal involvement movement disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0044332 MONDO:0015548 False childhood-onset benign chorea with striatal involvement Huntington disease-like syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0044333 MONDO:0010198 False alcohol-induced Wernicke-Korsakoff's syndrome Wernicke-Korsakoff syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0044333 MONDO:0021702 False alcohol-induced Wernicke-Korsakoff's syndrome alcohol amnestic disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0044338 MONDO:0000569 False autoimmune primary ovarian failure autoimmune disorder of endocrine system UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0044338 MONDO:0005387 False autoimmune primary ovarian failure primary ovarian failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0044339 MONDO:0011385 False lumbar disk degenerative disorder intervertebral disk degenerative disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0044342 MONDO:0011385 False thoracic disk degenerative disorder intervertebral disk degenerative disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0044343 MONDO:0011385 False cervical disk degenerative disorder intervertebral disk degenerative disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0044344 MONDO:0015254 False Schistosoma japonicum infectious disease schistosomiasis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0044345 MONDO:0015254 False Schistosoma mansoni infectious disease schistosomiasis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0044346 MONDO:0005738 False echinococcus granulosus infectious disease echinococcosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0044347 MONDO:0005570 False erythrocyte disorder hematologic disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0044348 MONDO:0044347 False hemoglobinopathy erythrocyte disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0044349 MONDO:0044348 False acquired hemoglobinopathy hemoglobinopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0044350 MONDO:0016365 False hyperparathyroidism, primary, caused by water clear cell hyperplasia familial primary hyperparathyroidism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0044351 MONDO:0015254 False Schistosoma intercalatum infectious disease schistosomiasis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0044355 MONDO:0005554 False isolated sternocostoclavicular hyperostosis rheumatic disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0044406 MONDO:0019287 False arthrogryposis-ectodermal dysplasia-other anomalies syndrome ectodermal dysplasia syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0044406 MONDO:0019942 False arthrogryposis-ectodermal dysplasia-other anomalies syndrome distal arthrogryposis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0044617 MONDO:0002254 False X-linked keloid scarring-reduced joint mobility-increased optic cup-to-disc ratio syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0044619 MONDO:0016677 False propylthiouracil embryofetopathy toxic or drug-related embryofetopathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0044621 MONDO:0015159 False 16p12.1p12.3 triplication syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0044621 MONDO:0016949 False 16p12.1p12.3 triplication syndrome partial duplication of the short arm of chromosome 16 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0044622 MONDO:0020127 False EMILIN-1-related connective tissue disease hereditary peripheral neuropathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0044622 MONDO:0023603 False EMILIN-1-related connective tissue disease hereditary disorder of connective tissue UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0044624 MONDO:0004966 False pediatric collagenous gastritis gastritis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0044625 MONDO:0018993 False autosomal dominant charcot-marie-tooth disease type 2 due to DGAT2 mutation Charcot-Marie-Tooth disease type 2 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0044626 MONDO:0021124 False female infertility due to oocyte meiotic arrest female infertility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0044627 MONDO:0005283 False acute macular neuroretinopathy retinal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0044627 MONDO:0020683 False acute macular neuroretinopathy acute disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0044628 MONDO:0016643 False six2-related frontonasal dysplasia frontonasal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0044629 MONDO:0015225 False congenital amyoplasia arthrogryposis syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0044632 MONDO:0005269 False extracranial carotid artery aneurysm carotid artery disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0044633 MONDO:0002429 False idiopathic pleuroparenchymal fibroelastosis idiopathic interstitial pneumonia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0044634 MONDO:0002254 False retinitis pigmentosa-hearing loss-premature aging-short stature-facial dysmorphism syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0044634 MONDO:0003847 False retinitis pigmentosa-hearing loss-premature aging-short stature-facial dysmorphism syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0044634 MONDO:0015160 False retinitis pigmentosa-hearing loss-premature aging-short stature-facial dysmorphism syndrome multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0044635 MONDO:0018795 False DIAPH1-related sensorineural hearing loss-thrombocytopenia syndrome syndromic constitutional thrombocytopenia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0044637 MONDO:0015990 False infantile-onset generalized dyskinesia with orofacial involvement focal, segmental or multifocal dystonia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0044640 MONDO:0018993 False Charcot-Marie-Tooth disease type 2T Charcot-Marie-Tooth disease type 2 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0044641 MONDO:0000508 False 9q33.3q34.11 microdeletion syndrome syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0044641 MONDO:0002320 False 9q33.3q34.11 microdeletion syndrome congenital nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0044641 MONDO:0005328 False 9q33.3q34.11 microdeletion syndrome eye disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0044641 MONDO:0015159 False 9q33.3q34.11 microdeletion syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0044641 MONDO:0016908 False 9q33.3q34.11 microdeletion syndrome partial monosomy of the long arm of chromosome 9 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0044642 MONDO:0019046 False c11orf73-related autosomal recessive hypomyelinating leukodystrophy leukodystrophy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0044643 MONDO:0002254 False congenital labioscrotal agenesis-cerebellar malformation-corneal dystrophy-facial dysmorphism syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0044643 MONDO:0002320 False congenital labioscrotal agenesis-cerebellar malformation-corneal dystrophy-facial dysmorphism syndrome congenital nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0044643 MONDO:0015159 False congenital labioscrotal agenesis-cerebellar malformation-corneal dystrophy-facial dysmorphism syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0044643 MONDO:0020022 False congenital labioscrotal agenesis-cerebellar malformation-corneal dystrophy-facial dysmorphism syndrome central nervous system malformation UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0044644 MONDO:0003150 False congenital agenesis of the scrotum male reproductive system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0044644 MONDO:0021147 False congenital agenesis of the scrotum disorder of development or morphogenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0044645 MONDO:0003847 False familial monosomy 7 syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0044645 MONDO:0018881 False familial monosomy 7 syndrome myelodysplastic syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0044646 MONDO:0002320 False early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome congenital nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0044646 MONDO:0015159 False early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0044646 MONDO:0024237 False early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome inherited neurodegenerative disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0044646 MONDO:0100198 False early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome Mendelian encephalopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0044647 MONDO:0018943 False kyphosis-lateral tongue atrophy-myofibrillar myopathy syndrome myofibrillar myopathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0044648 MONDO:0015150 False kyphoscoliosis-lateral tongue atrophy-hereditary spastic paraplegia syndrome complex hereditary spastic paraplegia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0044649 MONDO:0005267 False omphalocele-diaphragmatic hernia-cardiovascular anomalies-radial ray defect syndrome heart disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0044649 MONDO:0015160 False omphalocele-diaphragmatic hernia-cardiovascular anomalies-radial ray defect syndrome multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0044649 MONDO:0018234 False omphalocele-diaphragmatic hernia-cardiovascular anomalies-radial ray defect syndrome dysostosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0044649 MONDO:0019054 False omphalocele-diaphragmatic hernia-cardiovascular anomalies-radial ray defect syndrome congenital limb malformation UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0044651 MONDO:0015363 False early-onset progressive encephalopathy-spastic ataxia-distal spinal muscular atrophy syndrome neuronopathy, distal hereditary motor, autosomal recessive UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0044651 MONDO:0018307 False early-onset progressive encephalopathy-spastic ataxia-distal spinal muscular atrophy syndrome neurodegeneration with brain iron accumulation UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0044651 MONDO:0020046 False early-onset progressive encephalopathy-spastic ataxia-distal spinal muscular atrophy syndrome autosomal recessive degenerative and progressive cerebellar ataxia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0044651 MONDO:0022687 False early-onset progressive encephalopathy-spastic ataxia-distal spinal muscular atrophy syndrome cerebellar degeneration UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0044656 MONDO:0017266 False epidermolytic nevus keratinopathic ichthyosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0044657 MONDO:0018993 False MME-related autosomal dominant Charcot Marie Tooth disease type 2 Charcot-Marie-Tooth disease type 2 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0044660 MONDO:0002263 False menstrual cycle-dependent periodic fever female reproductive system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0044660 MONDO:0003847 False menstrual cycle-dependent periodic fever hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0044663 MONDO:0006590 False aquagenic palmoplantar keratoderma palmoplantar keratosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0044663 MONDO:0019268 False aquagenic palmoplantar keratoderma epidermal disease UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0044675 MONDO:0018230 False LRP5-related primary osteoporosis skeletal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0044682 MONDO:0015168 False MYBPC1-related autosomal recessive non-lethal arthrogryposis multiplex congenita syndrome arthrogryposis multiplex congenita UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0044685 MONDO:0005328 False autoimmune/inflammatory optic neuropathy eye disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0044687 MONDO:0044685 False chronic relapsing inflammatory optic neuropathy autoimmune/inflammatory optic neuropathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0044688 MONDO:0044685 False isolated optic neuritis autoimmune/inflammatory optic neuropathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0044689 MONDO:0044685 False recurrent idiopathic neuroretinitis autoimmune/inflammatory optic neuropathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0044689 MONDO:0700007 False recurrent idiopathic neuroretinitis idiopathic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0044690 MONDO:0044685 False optic perineuritis autoimmune/inflammatory optic neuropathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0044696 MONDO:0015159 False early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0044696 MONDO:0100198 False early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome Mendelian encephalopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0044699 MONDO:0000508 False SIN3A-related intellectual disability syndrome syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0044699 MONDO:0002320 False SIN3A-related intellectual disability syndrome congenital nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0044699 MONDO:0003847 False SIN3A-related intellectual disability syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0044699 MONDO:0015159 False SIN3A-related intellectual disability syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0044700 MONDO:0044699 False SIN3A-related intellectual disability syndrome due to a point mutation SIN3A-related intellectual disability syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0044701 MONDO:0002320 False childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder congenital nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0044701 MONDO:0005395 False childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder movement disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0044701 MONDO:0015159 False childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0044701 MONDO:0020022 False childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder central nervous system malformation UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0044702 MONDO:0018751 False X-linked external auditory canal atresia-dilated internal auditory canal-facial dysmorphism syndrome hereditary otorhinolaryngologic disease UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0044702 MONDO:0019755 False X-linked external auditory canal atresia-dilated internal auditory canal-facial dysmorphism syndrome developmental defect during embryogenesis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0044705 MONDO:0000514 False paranasal sinus squamous cell carcinoma bone squamous cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0044709 MONDO:0015604 False cochleovestibular dysplasia middle ear anomaly UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0044714 MONDO:0009637 False mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome inborn mitochondrial myopathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0044710 MONDO:0024623 False lip and oral cavity squamous cell carcinoma otorhinolaryngologic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0044715 MONDO:0015160 False metopic ridging-ptosis-facial dysmorphism syndrome multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0044715 MONDO:0015338 False metopic ridging-ptosis-facial dysmorphism syndrome syndromic craniosynostosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0044717 MONDO:0015160 False 4q25 proximal deletion syndrome multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0044717 MONDO:0016903 False 4q25 proximal deletion syndrome partial deletion of the long arm of chromosome 4 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0044718 MONDO:0019046 False alkaline ceramidase 3 deficiency leukodystrophy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING -MONDO:0044719 MONDO:0017396 False erythema multiforme major toxic dermatosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0044720 MONDO:0018751 False cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome hereditary otorhinolaryngologic disease UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0044720 MONDO:0020047 False cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome autosomal recessive syndromic cerebellar ataxia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0044721 MONDO:0044200 False severe combined immunodeficiency due to LAT deficiency T-B+ severe combined immunodeficiency UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0044726 MONDO:0015962 False psychomotor regression-oculomotor apraxia-movement disorder-nephropathy syndrome inherited renal tubular disease UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0044726 MONDO:0017764 False psychomotor regression-oculomotor apraxia-movement disorder-nephropathy syndrome disorder of zinc metabolism UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0044726 MONDO:0024237 False psychomotor regression-oculomotor apraxia-movement disorder-nephropathy syndrome inherited neurodegenerative disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0044737 MONDO:0015150 False autosomal recessive complex spastic paraplegia due to kennedy pathway dysfunction complex hereditary spastic paraplegia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0044737 MONDO:0015905 False autosomal recessive complex spastic paraplegia due to kennedy pathway dysfunction syndromic dyslipidemia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0044737 MONDO:0018117 False autosomal recessive complex spastic paraplegia due to kennedy pathway dysfunction disorder of phospholipids, sphingolipids and fatty acids biosynthesis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0044738 MONDO:0015159 False Gabriele de Vries syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0044739 MONDO:0019810 False Stevens-Johnson syndrome/toxic epidermal necrolysis overlap syndrome toxic epidermal necrolysis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0044740 MONDO:0004958 False salivary gland squamous cell carcinoma oral cavity squamous cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0044740 MONDO:0017167 False salivary gland squamous cell carcinoma malignant epithelial tumor of salivary glands UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0044742 MONDO:0006025 False autosomal recessive epidermolytic ichthyosis autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0044742 MONDO:0007239 False autosomal recessive epidermolytic ichthyosis epidermolytic ichthyosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0044744 MONDO:0001531 False prekallikrein deficiency blood coagulation disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -31812,32 +32203,44 @@ MONDO:0044749 MONDO:0002320 False X-linked congenital stationary night blindness MONDO:0044749 MONDO:0016293 False X-linked congenital stationary night blindness congenital stationary night blindness UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0044750 MONDO:0005650 False lassa virus infectious disease Arenaviridae infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0044751 MONDO:0001673 False chronic diarrheal disease diarrheal disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0044753 MONDO:0005965 False lumbar spinal stenosis spinal stenosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0044762 MONDO:0000251 False diarrheal disease secondary to increased bowel motility diarrheal disease secondary to altered bowel motility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0044764 MONDO:0000629 False benign choroid plexus neoplasm cardiovascular organ benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0044764 MONDO:0024296 False benign choroid plexus neoplasm vascular neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0044764 MONDO:0043218 False benign choroid plexus neoplasm neurovascular disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0044767 MONDO:0021079 False childhood adrenal gland pheochromocytoma childhood neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0044765 MONDO:0005377 False steroid-resistant nephrotic syndrome nephrotic syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0044768 MONDO:0021052 False vagus nerve paraganglioma parasympathetic paraganglioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0044781 MONDO:0044765 False nephrotic syndrome of childhood - steroid sensitive steroid-resistant nephrotic syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0044782 MONDO:0003749 False esophageal ulcer esophageal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0044782 MONDO:0043839 False esophageal ulcer ulcer disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0044785 MONDO:0020663 False desmoplastic melanoma malignant spindle cell neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0044791 MONDO:0018536 False combined hepatocellular carcinoma and cholangiocarcinoma adenocarcinoma of gallbladder and extrahepatic biliary tract UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0044792 MONDO:0100118 False large congenital melanocytic nevus hereditary skin disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0044796 MONDO:0020664 False spindle cell nevus spindle cell neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0044807 MONDO:0003441 False inherited dystonia dystonic disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0044807 MONDO:0003847 False inherited dystonia hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0044811 MONDO:0003441 False idiopathic torsion dystonia dystonic disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0044811 MONDO:0700007 False idiopathic torsion dystonia idiopathic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0044816 MONDO:0044807 False familial idiopathic torsion dystonia inherited dystonia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0044816 MONDO:0044811 False familial idiopathic torsion dystonia idiopathic torsion dystonia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0044817 MONDO:0044811 False acquired idiopathic torsion dystonia idiopathic torsion dystonia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0044843 MONDO:0003441 False torsion dystonia dystonic disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0044870 MONDO:0044843 False acquired torsion dystonia torsion dystonia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0044871 MONDO:0000477 False dystonia, focal, task-specific focal dystonia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0044871 MONDO:0044807 False dystonia, focal, task-specific inherited dystonia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0044872 MONDO:0001292 False dysautonomia autonomic nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0044874 MONDO:0044873 False refractory cytopenia of childhood childhood myelodysplastic syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0044875 MONDO:0005267 False coronary microvascular disorder heart disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0044875 MONDO:0005385 False coronary microvascular disorder vascular disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0044877 MONDO:0018215 False paraneoplastic cerebellar degeneration paraneoplastic neurologic syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0044876 MONDO:0002254 False drug hypersensitivity syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0044877 MONDO:0022687 False paraneoplastic cerebellar degeneration cerebellar degeneration UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0044879 MONDO:0044880 False pancreatic mucinous-cystic neoplasm cystic tumor of the pancreas UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0044884 MONDO:0007650 False tonsillar lymphoma MALT lymphoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0044884 MONDO:0018751 False tonsillar lymphoma hereditary otorhinolaryngologic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0044887 MONDO:0015759 False central nervous system non-hodgkin lymphoma B-cell non-Hodgkin lymphoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0044903 MONDO:0020076 False myelofibrosis myeloproliferative neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0044921 MONDO:0016537 False atypical lymphoproliferative disorder lymphoproliferative syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0044921 MONDO:0060782 False atypical lymphoproliferative disorder premalignant hematological system disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0044925 MONDO:0006181 False oral cavity carcinoma digestive system carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0044937 MONDO:0024476 False rectal carcinoma epithelial neoplasm of rectum UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0044972 MONDO:0004805 False eosinophil disorder leukocyte disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -31886,92 +32289,77 @@ MONDO:0045046 MONDO:0003240 False inherited thyroid metabolism disease thyroid g MONDO:0045046 MONDO:0019052 False inherited thyroid metabolism disease inborn errors of metabolism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0045047 MONDO:0005071 False neurosarcoidosis nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0045047 MONDO:0019338 False neurosarcoidosis sarcoidosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0045048 MONDO:0024664 False toxemia of pregnancy hypertension, pregnancy-induced UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0045049 MONDO:0005129 False hypermature cataract cataract UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0045050 MONDO:0005129 False nuclear cataract cataract UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0045051 MONDO:0005129 False cortical cataract cataract UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0045054 MONDO:0045024 False cancer-related condition cell proliferation disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0045057 MONDO:0002039 False delirium cognitive disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0045058 MONDO:0017611 False ACTH-producing pituitary gland neoplasm pituitary tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0045059 MONDO:0004989 False cribriform carcinoma of breast breast carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0045059 MONDO:0006176 False cribriform carcinoma of breast cribriform carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0045060 MONDO:0045059 False intraductal cribriform breast adenocarcinoma cribriform carcinoma of breast UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0045068 MONDO:0006304 False minor salivary gland adenoid cystic carcinoma minor salivary gland adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0045071 MONDO:0015821 False mycosis fungoides variant mycosis fungoides and variants UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0045072 MONDO:0021058 False ectopic hormone secretion syndrome associated with neoplasia neoplastic syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0049223 MONDO:0800064 False osteogenesis imperfecta, type 19 osteogenesis imperfecta and a reduction of bone mineral density. UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0054549 MONDO:0100261 False peroxisome biogenesis disorder 10B peroxisome biogenesis disorder due to PEX3 defect UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0054550 MONDO:0022800 False avascular necrosis of femoral head, primary, 1 type 2 collagenopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0054559 MONDO:0017750 False congenital disorder of glycosylation, type IIq defect in conserved oligomeric Golgi complex UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0054573 MONDO:0002254 False Lopes-Maciel-Rodan syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0054581 MONDO:0800066 False Townes-Brocks syndrome 1 polydactyly-syndactyly-triphalangism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0054591 MONDO:0002254 False Stankiewicz-Isidor syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0054591 MONDO:0700092 False Stankiewicz-Isidor syndrome neurodevelopmental disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0054593 MONDO:0007988 False microcephaly 18, primary, autosomal dominant autosomal dominant primary microcephaly UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS MONDO:0054636 MONDO:0002254 False Skraban-Deardorff syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0054636 MONDO:0015159 False Skraban-Deardorff syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0054708 MONDO:0022410 False retinitis pigmentosa 80 retinal ciliopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0054708 MONDO:0100509 False retinitis pigmentosa 80 IFT140-related recessive ciliopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0054750 MONDO:0020573 False amyotrophic lateral sclerosis, susceptibility to, 24 inherited disease susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0054754 MONDO:0800174 False encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 8 encephalitis, acute, infection-induced, susceptibility to UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0054780 MONDO:0017319 False elliptocytosis 3 hereditary elliptocytosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0054813 MONDO:0006025 False Ehlers-Danlos syndrome, classic-like, 2 autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0054833 MONDO:0000426 False charcot-marie-tooth disease, axonal, type 2DD autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0054833 MONDO:0018993 False charcot-marie-tooth disease, axonal, type 2DD Charcot-Marie-Tooth disease type 2 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0054835 MONDO:0700117 False classic dopamine transporter deficiency syndrome SLC6A3-related dopamine transporter deficiency syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0054837 MONDO:0015802 False intellectual disability, autosomal dominant 57 autosomal dominant non-syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0054842 MONDO:0004691 False polycystic kidney disease 6 with or without polycystic liver disease autosomal dominant polycystic kidney disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0054862 MONDO:0003225 False premature ovarian failure 15 bone marrow disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0054865 MONDO:0016387 False encephalopathy due to mitochondrial and peroxisomal fission defect mitochondrial oxidative phosphorylation disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0054865 MONDO:0100276 False encephalopathy due to mitochondrial and peroxisomal fission defect disorder of defective peroxisomal and mitochondrial fission UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0054866 MONDO:0007263 False sudden arrhythmia death syndrome cardiac rhythm disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0054867 MONDO:0009264 False paraomphalocele gastroschisis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0054868 MONDO:0004567 False meconium ileus ileus UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0054869 MONDO:0016120 False nondystrophic myotonia myotonic syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0056795 MONDO:0010595 False X-linked spermatogenic failure 1 Sertoli cell-only syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0056797 MONDO:0100500 False neurodevelopmental disorder with midbrain and hindbrain malformations Mendelian neurodevelopmental disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0056798 MONDO:0024634 False disorder of appendix large intestine disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0056799 MONDO:0002081 False synovium disorder musculoskeletal system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0056802 MONDO:0056799 False synovial bursa disorder synovium disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0056803 MONDO:0000226 False sulfur metabolism disease mineral metabolism disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0056804 MONDO:0000628 False benign neoplasm of peripheral nervous system central nervous system organ benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0056804 MONDO:0001406 False benign neoplasm of peripheral nervous system peripheral nervous system neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0056815 MONDO:0018534 False liver adenosquamous carcinoma squamous cell carcinoma of liver and intrahepatic biliary tract UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0056817 MONDO:0018515 False rectal adenosquamous carcinoma squamous cell carcinoma of rectum UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0056818 MONDO:0002529 False skin adenosquamous carcinoma skin squamous cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0056822 MONDO:0003847 False amyotonia congenita hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0060455 MONDO:0000425 False X-linked congenital hemolytic anemia X-linked disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0060455 MONDO:0003689 False X-linked congenital hemolytic anemia familial hemolytic anemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0060456 MONDO:0003847 False cerebral sclerosis, diffuse, scholz type hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0060457 MONDO:0003847 False autoinflammation with arthritis and dyskeratosis hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0060489 MONDO:0100249 False 46,XX sex reversal 4 46,XX testicular disorder of sex development UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0060490 MONDO:0100500 False neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies Mendelian neurodevelopmental disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0060491 MONDO:0100500 False neurodevelopmental disorder with involuntary movements Mendelian neurodevelopmental disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0060496 MONDO:0100500 False neurodevelopmental disorder with hypotonia, neuropathy, and deafness Mendelian neurodevelopmental disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0060502 MONDO:0002320 False neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies congenital nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0060502 MONDO:0015159 False neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0060502 MONDO:0100500 False neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies Mendelian neurodevelopmental disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0060507 MONDO:0003847 False retinal dystrophy with or without macular staphyloma hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0060510 MONDO:0003847 False Cohen-Gibson syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0060527 MONDO:0003847 False maleylacetoacetate isomerase deficiency hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0060532 MONDO:0003847 False congenital heart defects and skeletal malformations syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0060533 MONDO:0003847 False microcephaly, short stature, and limb abnormalities hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0060549 MONDO:0003847 False congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0060550 MONDO:0019673 False polydactyly, postaxial, type a7 postaxial polydactyly type A UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0060551 MONDO:0003847 False cerebellar atrophy, developmental delay, and seizures hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0060556 MONDO:0002254 False joint laxity, short stature, and myopia syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0060556 MONDO:0006025 False joint laxity, short stature, and myopia autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0060556 MONDO:0019755 False joint laxity, short stature, and myopia developmental defect during embryogenesis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0060562 MONDO:0100198 False encephalopathy, neonatal severe, with lactic acidosis and brain abnormalities Mendelian encephalopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0060562 MONDO:0100500 False encephalopathy, neonatal severe, with lactic acidosis and brain abnormalities Mendelian neurodevelopmental disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0060564 MONDO:0006025 False HELIX syndrome autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0060564 MONDO:0015962 False HELIX syndrome inherited renal tubular disease UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0060568 MONDO:0000426 False Pilarowski-Bjornsson syndrome autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0060568 MONDO:0015159 False Pilarowski-Bjornsson syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0060577 MONDO:0100500 False neurodevelopmental disorder with microcephaly, ataxia, and seizures Mendelian neurodevelopmental disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0060578 MONDO:0100500 False neurodevelopmental disorder, mitochondrial, with abnormal movements and lactic acidosis, with or without seizures Mendelian neurodevelopmental disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0060582 MONDO:0006025 False auditory neuropathy-optic atrophy syndrome autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0060582 MONDO:0044970 False auditory neuropathy-optic atrophy syndrome mitochondrial disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0060583 MONDO:0003847 False platelet abnormalities with eosinophilia and immune-mediated inflammatory disease hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0060585 MONDO:0015362 False neuronopathy, distal hereditary motor, type 9 neuronopathy, distal hereditary motor, autosomal dominant UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS MONDO:0060589 MONDO:0003847 False facial palsy, congenital, with ptosis and velopharyngeal dysfunction hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0060591 MONDO:0003847 False immunodeficiency, developmental delay, and hypohomocysteinemia hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0060592 MONDO:0002254 False Sweeney-Cox syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0060592 MONDO:0003847 False Sweeney-Cox syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0060596 MONDO:0100500 False neurodevelopmental disorder with dysmorphic facies and distal limb anomalies Mendelian neurodevelopmental disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0060611 MONDO:0003847 False combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0060621 MONDO:0100500 False neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy Mendelian neurodevelopmental disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -31979,13 +32367,10 @@ MONDO:0060622 MONDO:0100500 False neurodevelopmental disorder with severe motor MONDO:0060624 MONDO:0100500 False neurodevelopmental disorder with ataxic gait, absent speech, and decreased cortical white matter Mendelian neurodevelopmental disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0060627 MONDO:0002525 False glycosylphosphatidylinositol biosynthesis defect 15 inherited lipid metabolism disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0060627 MONDO:0006025 False glycosylphosphatidylinositol biosynthesis defect 15 autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0060627 MONDO:0015159 False glycosylphosphatidylinositol biosynthesis defect 15 multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0060627 MONDO:0015286 False glycosylphosphatidylinositol biosynthesis defect 15 congenital disorder of glycosylation UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0060627 MONDO:0015327 False glycosylphosphatidylinositol biosynthesis defect 15 developmental anomaly of metabolic origin UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0060627 MONDO:0024321 False glycosylphosphatidylinositol biosynthesis defect 15 disorder of GPI anchor biosynthesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0060629 MONDO:0100500 False neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal recessive Mendelian neurodevelopmental disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0060631 MONDO:0002254 False Alkuraya-Kucinskas syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0060631 MONDO:0003847 False Alkuraya-Kucinskas syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0060640 MONDO:0100500 False neurodevelopmental disorder with microcephaly, epilepsy, and brain atrophy Mendelian neurodevelopmental disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0060641 MONDO:0100500 False neurodevelopmental disorder with or without seizures and gait abnormalities Mendelian neurodevelopmental disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0060642 MONDO:0100500 False neurodevelopmental disorder with movement abnormalities, abnormal gait, and autistic features Mendelian neurodevelopmental disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -32018,7 +32403,6 @@ MONDO:0060724 MONDO:0002525 False glycosylphosphatidylinositol biosynthesis defe MONDO:0060724 MONDO:0015286 False glycosylphosphatidylinositol biosynthesis defect 17 congenital disorder of glycosylation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0060724 MONDO:0024321 False glycosylphosphatidylinositol biosynthesis defect 17 disorder of GPI anchor biosynthesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0060729 MONDO:0019263 False protoporphyria, erythropoietic, 2 autosomal erythropoietic protoporphyria UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0060732 MONDO:0010110 False tetraamelia syndrome 2 tetraamelia-multiple malformations syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS MONDO:0060732 MONDO:0019713 False tetraamelia syndrome 2 non-syndromic limb reduction defect UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0060733 MONDO:0003847 False humerofemoral hypoplasia with radiotibial ray deficiency hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0060745 MONDO:0003847 False intellectual developmental disorder with or without epilepsy or cerebellar ataxia hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -32031,10 +32415,23 @@ MONDO:0060760 MONDO:0003847 False intellectual developmental disorder with dysmo MONDO:0060761 MONDO:0100500 False neurodevelopmental disorder with epilepsy and hypoplasia of the corpus callosum Mendelian neurodevelopmental disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0060763 MONDO:0000508 False intellectual developmental disorder with speech delay, dysmorphic facies, and t-cell abnormalities syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0060763 MONDO:0700120 False intellectual developmental disorder with speech delay, dysmorphic facies, and t-cell abnormalities BAFopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0060764 MONDO:0010110 False tetraamelia syndrome 1 tetraamelia-multiple malformations syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS MONDO:0060764 MONDO:0019713 False tetraamelia syndrome 1 non-syndromic limb reduction defect UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0060765 MONDO:0005079 False fibroepithelial polyp polyp UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0060766 MONDO:0002519 False anal polyp anus disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0060766 MONDO:0021398 False anal polyp polyp of rectum UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0060766 MONDO:0024292 False anal polyp gastrointestinal polyp UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0060768 MONDO:0003396 False gingival fibroepithelial polyp epulis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0060768 MONDO:0060765 False gingival fibroepithelial polyp fibroepithelial polyp UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0060774 MONDO:0021394 False vaginal fibroepithelial polyp polyp of vagina UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0060774 MONDO:0060765 False vaginal fibroepithelial polyp fibroepithelial polyp UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0060777 MONDO:0000751 False cervical fibroepithelial polyp cervical polyp UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0060777 MONDO:0060765 False cervical fibroepithelial polyp fibroepithelial polyp UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0060778 MONDO:0001083 False adult Fanconi syndrome Fanconi renotubular syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0060779 MONDO:0001083 False acquired Fanconi syndrome Fanconi renotubular syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0060781 MONDO:0060779 False Preeyasombat-Varavithya syndrome acquired Fanconi syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0060782 MONDO:0005570 False premalignant hematological system disease hematologic disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0060782 MONDO:0021074 False premalignant hematological system disease precancerous condition UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0060783 MONDO:0018479 False classic congenital adrenal hyperplasia congenital adrenal hyperplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0100003 MONDO:0020573 False susceptibility to angioedema induced by ACE inhibitors inherited disease susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0100004 MONDO:0004805 False mast cell activation syndrome leukocyte disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0100010 MONDO:0002081 False tendinopathy musculoskeletal system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -32046,12 +32443,12 @@ MONDO:0100014 MONDO:0005283 False autoimmune retinopathy retinal disorder UNSUPP MONDO:0100017 MONDO:0006547 False pityriasis rubra pilaris exanthem UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0100017 MONDO:0019270 False pityriasis rubra pilaris erythrokeratoderma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0100025 MONDO:0100022 False epilepsy of infancy with migrating focal seizures neonatal/infantile epilepsy syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0100036 MONDO:0005027 False variable age onset epilepsy epilepsy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0100042 MONDO:0007263 False cardiac conduction defect cardiac rhythm disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0100043 MONDO:0020573 False epidermodysplasia verruciformis, susceptibility to inherited disease susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0100044 MONDO:0008715 False acrofrontofacionasal dysostosis 1 acrofrontofacionasal dysostosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0100046 MONDO:0020573 False exfoliation syndrome, susceptibility to inherited disease susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0100048 MONDO:0020573 False graft-versus-host disease, susceptibility to inherited disease susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0100053 MONDO:0000605 False anaphylaxis hypersensitivity reaction disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0100054 MONDO:0100053 False idiopathic anaphylaxis anaphylaxis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0100054 MONDO:0700007 False idiopathic anaphylaxis idiopathic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0100058 MONDO:0019242 False hypervalinemia and hyperleucine-isoleucinemia inborn disorder of branched-chain amino acid metabolism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -32059,40 +32456,33 @@ MONDO:0100062 MONDO:0005579 False developmental and epileptic encephalopathy epi MONDO:0100062 MONDO:0100022 False developmental and epileptic encephalopathy neonatal/infantile epilepsy syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0100062 MONDO:0100038 False developmental and epileptic encephalopathy complex neurodevelopmental disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0100062 MONDO:0100500 False developmental and epileptic encephalopathy Mendelian neurodevelopmental disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0100063 MONDO:0002604 False Pericytoma with t(7;12) pericytic neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0100064 MONDO:0019219 False tyrosine hydroxylase deficiency inborn disorder of neurotransmitter metabolism and transport UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0100075 MONDO:0005315 False jaw fracture bone fracture UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0100077 MONDO:0020295 False congenital alveolar dysplasia congenital pulmonary veins anomaly UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0100081 MONDO:0005071 False sleep disorder nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0100083 MONDO:0011071 False hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 hereditary thrombocytopenia and hematologic cancer predisposition syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0100086 MONDO:0700096 False perinatal disease human disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0100095 MONDO:0006025 False neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0100095 MONDO:0024237 False neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures inherited neurodegenerative disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0100096 MONDO:0020753 False COVID-19 Orthocoronavirinae infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0100111 MONDO:0003847 False focal segmental glomerulosclerosis and neurodevelopmental syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0100115 MONDO:0020683 False acute flaccid myelitis acute disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0100116 MONDO:0005087 False Middle East respiratory syndrome respiratory system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0100116 MONDO:0020753 False Middle East respiratory syndrome Orthocoronavirinae infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0100118 MONDO:0003847 False hereditary skin disorder hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0100118 MONDO:0005093 False hereditary skin disorder skin disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0100119 MONDO:0800166 False Knobloch syndrome 2 Knobloch syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0100120 MONDO:0005550 False vector-borne disease infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0100127 MONDO:0100123 False toxic bronchiolitis obliterans toxic bronchiolitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0100128 MONDO:0005550 False coinfection infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0100129 MONDO:0008813 False intracranial arachoid cyst arachnoid cyst UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0100130 MONDO:0006502 False adult acute respiratory distress syndrome acute respiratory distress syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0100133 MONDO:0000066 False mitochondrial complex I deficiency mitochondrial complex deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0100135 MONDO:0100062 False Dravet syndrome developmental and epileptic encephalopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0100137 MONDO:0019303 False telomere syndrome premature aging syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0100147 MONDO:0000508 False SATB2 associated disorder syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0100147 MONDO:0003847 False SATB2 associated disorder hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0100151 MONDO:0006025 False nephropathic cystinosis autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0100153 MONDO:0005071 False tubulinopathy nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0100151 MONDO:0016239 False nephropathic cystinosis cystinosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0100156 MONDO:0006025 False Imerslund-Grasbeck syndrome type 1 autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0100157 MONDO:0006025 False Imerslund-Grasbeck syndrome type 2 autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0100159 MONDO:0005149 False pulmonary hypertension, neonatal pulmonary hypertension UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0100160 MONDO:0006022 False alcoholic ketoacidosis acidosis disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0100163 MONDO:0005108 False COVID-19–associated multisystem inflammatory syndrome in children viral infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0100163 MONDO:0035375 False COVID-19–associated multisystem inflammatory syndrome in children multisystem inflammatory syndrome in children and adults UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0100164 MONDO:0017688 False permanent neonatal diabetes mellitus disorder of glycolysis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0100165 MONDO:0006025 False permanent neonatal diabetes mellitus 1 autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -32106,22 +32496,16 @@ MONDO:0100183 MONDO:0020573 False radioulnar synostosis, nonsyndromic, susceptib MONDO:0100184 MONDO:0045014 False GTP cyclohydrolase I deficiency tetrahydrobiopterin metabolic process disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0100185 MONDO:0005046 False immune reconstitution inflammatory syndrome immune system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0100185 MONDO:0021166 False immune reconstitution inflammatory syndrome inflammatory disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0100186 MONDO:0016543 False GTP cyclohydrolase I deficiency with hyperphenylalaninemia hyperphenylalaninemia due to tetrahydrobiopterin deficiency UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0100186 MONDO:0100184 False GTP cyclohydrolase I deficiency with hyperphenylalaninemia GTP cyclohydrolase I deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0100192 MONDO:0005154 False liver failure liver disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0100193 MONDO:0100192 False chronic liver failure liver failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0100210 MONDO:0003847 False growth hormone insensitivity syndrome with immune dysregulation hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0100210 MONDO:0015892 False growth hormone insensitivity syndrome with immune dysregulation growth hormone insensitivity syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0100211 MONDO:0005046 False growth hormone insensitivity with immune dysregulation 1, autosomal recessive immune system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0100211 MONDO:0006025 False growth hormone insensitivity with immune dysregulation 1, autosomal recessive autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0100212 MONDO:0002254 False IFAP syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0100212 MONDO:0015947 False IFAP syndrome inherited ichthyosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0100213 MONDO:0020605 False IFAP syndrome 1, with or without BRESHECK syndrome X-linked recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0100214 MONDO:0003847 False Rajab interstitial lung disease with brain calcifications hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0100214 MONDO:0015925 False Rajab interstitial lung disease with brain calcifications interstitial lung disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0100215 MONDO:0006025 False Rajab interstitial lung disease with brain calcifications 1 autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0100216 MONDO:0003847 False DICER1-related tumor predisposition hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0100217 MONDO:0031632 False developmental delay with short stature, dysmorphic facial features, and sparse hair 2 developmental delay with short stature, dysmorphic facial features, and sparse hair UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING -MONDO:0100223 MONDO:0100133 False mitochondrial complex I deficiency, nuclear type mitochondrial complex I deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0100224 MONDO:0009637 False mitochondrial complex I deficiency, nuclear type 1 inborn mitochondrial myopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0100226 MONDO:0100081 False parasomnia, sleepwalking type sleep disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0100232 MONDO:0020573 False psoriatic arthritis, susceptibility to inherited disease susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -32138,77 +32522,56 @@ MONDO:0100240 MONDO:0021181 False inherited thrombophilia inherited blood coagul MONDO:0100241 MONDO:0002049 False inherited thrombocytopenia thrombocytopenia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0100241 MONDO:0003847 False inherited thrombocytopenia hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0100242 MONDO:0015356 False glioma susceptibility hereditary neoplastic syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0100244 MONDO:0003656 False paroxysmal nocturnal hemoglobinuria hemoglobinuria UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0100244 MONDO:0003664 False paroxysmal nocturnal hemoglobinuria hemolytic anemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0100244 MONDO:0006504 False paroxysmal nocturnal hemoglobinuria acquired metabolic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0100244 MONDO:0015610 False paroxysmal nocturnal hemoglobinuria acquired aplastic anemia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0100244 MONDO:0024321 False paroxysmal nocturnal hemoglobinuria disorder of GPI anchor biosynthesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0100246 MONDO:0020573 False migraine with or without aura, susceptibility to inherited disease susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0100247 MONDO:0003847 False multiple congenital anomalies-hypotonia-seizures syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0100247 MONDO:0015159 False multiple congenital anomalies-hypotonia-seizures syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0100249 MONDO:0017576 False 46,XX testicular disorder of sex development 46,XX disorder of sex development UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0100250 MONDO:0003847 False 46,XX sex reversal 1 hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0100251 MONDO:0002531 False familial hyperphosphatemic tumoral calcinosis/hyperphosphatemic hyperostosis syndrome skin neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0100251 MONDO:0018891 False familial hyperphosphatemic tumoral calcinosis/hyperphosphatemic hyperostosis syndrome familial tumoral calcinosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0100251 MONDO:0100118 False familial hyperphosphatemic tumoral calcinosis/hyperphosphatemic hyperostosis syndrome hereditary skin disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0100252 MONDO:0018891 False tumoral calcinosis, hyperphosphatemic, familial, 1 familial tumoral calcinosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0100253 MONDO:0006025 False Roberts-SC phocomelia syndrome autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0100253 MONDO:0019713 False Roberts-SC phocomelia syndrome non-syndromic limb reduction defect UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0100255 MONDO:0000351 False adenosine kinase deficiency disorder of methionine catabolism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0100255 MONDO:0019502 False adenosine kinase deficiency autosomal recessive non-syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS MONDO:0100280 MONDO:0019052 False Waldenstrom macroglobulinemia inborn errors of metabolism UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0100285 MONDO:0008867 False extrahepatic biliary atresia biliary atresia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0100288 MONDO:0020248 False enhanced S-cone syndrome vitreoretinal degeneration UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0100289 MONDO:0020248 False Goldmann-Favre syndrome vitreoretinal degeneration UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0100292 MONDO:0031415 False Carey-Fineman-Ziter syndrome 2 Carey-Fineman-Ziter syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0100295 MONDO:0020573 False Alzheimer disease, susceptibility to, mitochondrial inherited disease susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0100302 MONDO:0007872 False LADD syndrome 1 LADD syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING -MONDO:0100303 MONDO:0011870 False ichthyosis, annular epidermolytic 1 annular epidermolytic ichthyosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0100309 MONDO:0003847 False hereditary ataxia hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0100309 MONDO:0100308 False hereditary ataxia atactic disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0100310 MONDO:0000437 False hereditary cerebellar ataxia cerebellar ataxia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0100310 MONDO:0100309 False hereditary cerebellar ataxia hereditary ataxia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0100313 MONDO:0000490 False focal segmental glomerulosclerosis glomerulosclerosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0100326 MONDO:0000009 False Glanzmann thrombasthenia inherited bleeding disorder, platelet-type UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING -MONDO:0100326 MONDO:0021181 False Glanzmann thrombasthenia inherited blood coagulation disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0100327 MONDO:0019218 False hypercholanemia, familial inborn disorder of bile acid synthesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0100328 MONDO:0003847 False microcephaly, epilepsy, and diabetes syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0100338 MONDO:0002118 False urinary tract infection urinary system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0100338 MONDO:0005550 False urinary tract infection infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0100339 MONDO:0020046 False Friedreich ataxia autosomal recessive degenerative and progressive cerebellar ataxia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0100340 MONDO:0100339 False Friedreich ataxia 1 Friedreich ataxia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0100342 MONDO:0020665 False malignant glioma high grade malignant neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0100345 MONDO:0005137 False lactose intolerance nutritional disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0100345 MONDO:0020598 False lactose intolerance malabsorption syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0100347 MONDO:0002254 False carcinoid syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0100347 MONDO:0003847 False carcinoid syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0100348 MONDO:0006025 False neurodevelopmental disorder with microcephaly, impaired language, and gait abnormalities autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0100348 MONDO:0100500 False neurodevelopmental disorder with microcephaly, impaired language, and gait abnormalities Mendelian neurodevelopmental disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0100349 MONDO:0015369 False COACH syndrome Joubert syndrome and related disorders UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0100349 MONDO:0021147 False COACH syndrome disorder of development or morphogenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0100350 MONDO:0015362 False neuronopathy, distal hereditary motor, type 5 neuronopathy, distal hereditary motor, autosomal dominant UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0100367 MONDO:0019755 False port-wine nevi-mega cisterna magna-hydrocephalus syndrome developmental defect during embryogenesis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0100370 MONDO:0005344 False acute hepatitis B virus infection hepatitis B virus infection UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0100370 MONDO:0020683 False acute hepatitis B virus infection acute disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0100371 MONDO:0005231 False acute hepatitis C virus infection hepatitis C virus infection UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0100371 MONDO:0020683 False acute hepatitis C virus infection acute disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0100413 MONDO:0018874 False acute myeloid leukemia, biallelic CEBPA gene mutation acute myeloid leukemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0100428 MONDO:0008890 False progressive bulbar palsy of childhood progressive bulbar palsy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0100428 MONDO:0024537 False progressive bulbar palsy of childhood Brown-Vialetto-van Laere syndrome 1 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS -MONDO:0100429 MONDO:0019072 False intrahepatic cholestasis of pregnancy intrahepatic cholestasis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0100433 MONDO:0018795 False ACTB-associated syndromic thrombocytopenia syndromic constitutional thrombocytopenia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0100434 MONDO:0006625 False chronic mountain sickness altitude sickness UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0100435 MONDO:0009717 False Schwartz-Jampel syndrome type 1 Schwartz-Jampel syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0100440 MONDO:0020573 False Asperger syndrome, susceptibility to inherited disease susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0100450 MONDO:0020248 False CAPN5-related vitreoretinopathy vitreoretinal degeneration UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0100450 MONDO:0700115 False CAPN5-related vitreoretinopathy proliferative vitreoretinopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0100452 MONDO:0000426 False RPE65-related dominant retinopathy autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0100452 MONDO:0019118 False RPE65-related dominant retinopathy inherited retinal dystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0100457 MONDO:0003847 False achalasia, familial esophageal hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0100457 MONDO:0008698 False achalasia, familial esophageal achalasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0100459 MONDO:0005372 False azoospermia male infertility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0100460 MONDO:0020573 False tobacco addiction, susceptibility to inherited disease susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0100462 MONDO:0018383 False short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans osteonecrosis of genetic origin UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0100466 MONDO:0018973 False butterfly-shaped pigment dystrophy patterned dystrophy of the retinal pigment epithelium UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0100468 MONDO:0019952 False Batten-Turner congenital myopathy congenital myopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS MONDO:0100469 MONDO:0010528 False anosmia, isolated congenital, X-linked anosmia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0100470 MONDO:0005087 False reactive airway disease respiratory system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0100471 MONDO:0024298 False vitamin D deficiency vitamin deficiency disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0100476 MONDO:0020573 False lipodystrophy, partial, acquired, susceptibility to inherited disease susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0100478 MONDO:0003847 False brain malformations with or without urinary tract defects hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0100478 MONDO:0005560 False brain malformations with or without urinary tract defects brain disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -32218,22 +32581,19 @@ MONDO:0100486 MONDO:0011438 False adult acne acne UNSUPPORTED-MISSING UNSUPPORTE MONDO:0100488 MONDO:0015356 False CDH1-related diffuse gastric and lobular breast cancer syndrome hereditary neoplastic syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0100489 MONDO:0000162 False Graves disease, susceptibility to, 1 autoimmune thyroid disease, susceptibility to UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0100491 MONDO:0022205 False generalized pustular psoriasis pustular psoriasis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0100492 MONDO:0002254 False Bonnevie-Ullrich syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0100505 MONDO:0002406 False food dermatitis dermatitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0100508 MONDO:0007254 False salivary gland type cancer of the breast breast cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0100510 MONDO:0005516 False spondyloepimetaphyseal dysplasia osteochondrodysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0100510 MONDO:0018230 False spondyloepimetaphyseal dysplasia skeletal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0100511 MONDO:0007263 False sudden cardiac arrest cardiac rhythm disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0100512 MONDO:0018158 False mitochondrial DNA depletion syndrome, hepatocerebral form mitochondrial DNA depletion syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0100514 MONDO:0016248 False familial ovarian carcinoma familial ovarian cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0100518 MONDO:0007743 False hereditary attention deficit-hyperactivity disorder attention deficit-hyperactivity disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0100519 MONDO:0020573 False epilepsy, idiopathic generalized, susceptibility to, 17 inherited disease susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0100522 MONDO:0018631 False hypotrichosis 4 Marie Unna hereditary hypotrichosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0100526 MONDO:0020573 False breast-ovarian cancer, familial, susceptibility to inherited disease susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0100527 MONDO:0016357 False dysplastic cortical hyperostosis, Kozlowski-Tsuruta type dysplastic cortical hyperostosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0100528 MONDO:0014805 False Hao-Fountain syndrome due to 16p13.2 microdeletion Hao-Fountain syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0100531 MONDO:0010680 False Emery-Dreifuss muscular dystrophy 1, X-linked X-linked Emery-Dreifuss muscular dystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0100532 MONDO:0020573 False blepharospasm, benign essential, susceptibility to inherited disease susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0100533 MONDO:0020573 False hemorrhage, intracerebral, susceptibility to inherited disease susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0100534 MONDO:0006260 False SMARCB1-deficient kidney medullary carcinoma kidney medullary carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0200000 MONDO:0002876 False uterine ligament adenosarcoma cervical adenosarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0400005 MONDO:0005137 False refeeding syndrome nutritional disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0600002 MONDO:0005550 False hemorrhagic fever infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -32241,6 +32601,7 @@ MONDO:0600008 MONDO:0005046 False cytokine release syndrome immune system disord MONDO:0600023 MONDO:0021167 False idiopathic inflammatory myopathy myositis disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0600024 MONDO:0600023 False familial idiopathic inflammatory myopathy idiopathic inflammatory myopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0600025 MONDO:0002156 False hydrosalpinx fallopian tube disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0600029 MONDO:0005275 False restrictive pulmonary disease lung disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0700015 MONDO:0020049 False chromosome 8 disorder autosomal anomaly UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0700032 MONDO:0018071 False complete trisomy 18 trisomy 18 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0700035 MONDO:0020639 False monosomy chromosome 8 monosomy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -32249,8 +32610,13 @@ MONDO:0700038 MONDO:0021179 False TDP-43 proteinopathy proteostasis deficiencies MONDO:0700039 MONDO:0017919 False bladder exstrophy-epispadias-cloacal extrophy complex exstrophy-epispadias complex UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0700040 MONDO:0024288 False neonatal jaundice due to ABO incompatibility hyperbilirubinemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0700041 MONDO:0015356 False neuroblastoma, susceptibility to, 2 hereditary neoplastic syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0700048 MONDO:0002254 False hand-foot syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0700048 MONDO:0005093 False hand-foot syndrome skin disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0700051 MONDO:0005154 False liver abscess (disease) liver disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0700051 MONDO:0005227 False liver abscess (disease) abscess UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0700051 MONDO:0043424 False liver abscess (disease) digestive system infectious disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0700052 MONDO:0005227 False intersphincteric abscess abscess UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0700058 MONDO:0002173 False Morton neuroma neuroma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0700060 MONDO:0000425 False leukemia, acute, X-linked X-linked disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0700060 MONDO:0010643 False leukemia, acute, X-linked acute leukemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0700064 MONDO:0019040 False aneuploidy chromosomal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -32264,10 +32630,10 @@ MONDO:0700081 MONDO:0100131 False newborn respiratory distress syndrome pediatri MONDO:0700082 MONDO:0700128 False Robertsonian translocation Down syndrome translocation Down syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0700086 MONDO:0019040 False uniparental disomy chromosomal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0700087 MONDO:0010168 False Usher syndrome type 1B Usher syndrome type 1 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0700088 MONDO:0015427 False paroxysmal nonkinesigenic dyskinesia paroxysmal dyskinesia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0700089 MONDO:0700088 False paroxysmal nonkinesigenic dyskinesia 1 paroxysmal nonkinesigenic dyskinesia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0700090 MONDO:0010898 False epilepsy, familial temporal lobe, 1 autosomal dominant epilepsy with auditory features UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0700091 MONDO:0019040 False ring chromosome disorder chromosomal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0700092 MONDO:0005071 False neurodevelopmental disorder nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0700107 MONDO:0013090 False chromosome 19q13.11 deletion syndrome, distal chromosome 19q13.11 deletion syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0700115 MONDO:0005283 False proliferative vitreoretinopathy retinal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0700134 MONDO:0024913 False bovine neoplasm cattle disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -32372,69 +32738,53 @@ MONDO:0700199 MONDO:0024985 False sheep lung adenocarcinoma sheep disease UNSUPP MONDO:0700199 MONDO:0700099 False sheep lung adenocarcinoma adenocarcinoma, non-human animal UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0700199 MONDO:0700104 False sheep lung adenocarcinoma respiratory system disorder, non-human animal UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0700207 MONDO:0021147 False constitutional delay of growth and puberty disorder of development or morphogenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0700218 MONDO:0021680 False group B streptococcal infection streptococcal infection UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0700220 MONDO:0700096 False disease related to transplantation human disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0700225 MONDO:0003847 False hereditary gallbladder disorder hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0700225 MONDO:0005281 False hereditary gallbladder disorder gallbladder disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0700226 MONDO:0005271 False food allergy allergic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0800001 MONDO:0020573 False delayed sleep phase syndrome, susceptibility to inherited disease susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0800026 MONDO:0001292 False central hypoventilation syndrome, congenital, 1, with or without Hirschsprung disease autonomic nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0800026 MONDO:0002254 False central hypoventilation syndrome, congenital, 1, with or without Hirschsprung disease syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0800026 MONDO:0002320 False central hypoventilation syndrome, congenital, 1, with or without Hirschsprung disease congenital nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0800026 MONDO:0021635 False central hypoventilation syndrome, congenital, 1, with or without Hirschsprung disease neurocristopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0800027 MONDO:0019046 False leukoencephalopathy, diffuse hereditary, with spheroids 1 leukodystrophy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS MONDO:0800028 MONDO:0005395 False dyskinesia with orofacial involvement, autosomal dominant movement disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0800029 MONDO:0002429 False interstitial lung disease 2 idiopathic interstitial pneumonia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0800029 MONDO:0100137 False interstitial lung disease 2 telomere syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0800030 MONDO:0002254 False gastrointestinal defects and immunodeficiency syndrome 1 syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0800031 MONDO:0003847 False central hypoventilation syndrome, congenital hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0800042 MONDO:0015160 False restrictive dermopathy 1 multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0800042 MONDO:0021106 False restrictive dermopathy 1 laminopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0800043 MONDO:0009717 False Stüve-Wiedemann syndrome 1 Schwartz-Jampel syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0800043 MONDO:0019698 False Stüve-Wiedemann syndrome 1 bent bone dysplasia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0800044 MONDO:0019214 False congenital disorder of deglycosylation 1 inborn carbohydrate metabolic disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0800044 MONDO:0045010 False congenital disorder of deglycosylation 1 glycoprotein metabolism disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0800046 MONDO:0016412 False thyroid hormone metabolism, abnormal 1 peripheral hypothyroidism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0800047 MONDO:0015372 False macrothrombocytopenia, isolated, 1, autosomal dominant autosomal dominant macrothrombocytopenia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0800088 MONDO:0018230 False lysosomal storage disease with skeletal involvement skeletal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0800103 MONDO:0100349 False COACH syndrome 1 COACH syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0800104 MONDO:0031520 False immunodeficiency 105 familial severe combined immunodeficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0800105 MONDO:0002025 False catatonia psychiatric disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0800106 MONDO:0005084 False disruptive behavior disorder mental disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0800107 MONDO:0002070 False anterior deviation infundibular septum ventricular septal defect UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0800108 MONDO:0000471 False cleft leaflet of tricuspid valve tricuspid valve disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0800113 MONDO:0018882 False necrotizing vasculitis vasculitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0800129 MONDO:0019751 False autoinflammatory disease, X-linked autoinflammatory syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0800130 MONDO:0019751 False autoinflammatory syndrome with immunodeficiency autoinflammatory syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0800131 MONDO:0018037 False hyper-IgE recurrent infection syndrome 4A, autosomal dominant hyper-IgE syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0800132 MONDO:0003847 False autoinflammatory-pancytopenia syndrome due to DNASE2 deficiency hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0800133 MONDO:0005087 False pulmonary hypoplasia respiratory system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0800166 MONDO:0020248 False Knobloch syndrome vitreoretinal degeneration UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0800167 MONDO:0800166 False Knobloch syndrome 1 Knobloch syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0800175 MONDO:0005267 False cardiogenic shock heart disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0800176 MONDO:0029000 False black widow spider envenomation poisoning UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0800177 MONDO:0021178 False frostbite injury UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0800187 MONDO:0800174 False immunodeficiency 83, susceptibility to viral infections encephalitis, acute, infection-induced, susceptibility to UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0800188 MONDO:0020573 False malignant hyperthermia, susceptibility to inherited disease susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0800198 MONDO:0003847 False alopecia universalis hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0800198 MONDO:0004907 False alopecia universalis alopecia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0800307 MONDO:0018230 False de la Chapelle dysplasia skeletal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0800318 MONDO:0010680 False Emery-Dreifuss muscular dystrophy 6, X-linked X-linked Emery-Dreifuss muscular dystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0800341 MONDO:0019952 False congenital myopathy 4A, autosomal dominant congenital myopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING -MONDO:0800366 MONDO:0015780 False dyskeratosis congenita, autosomal dominant 4 dyskeratosis congenita UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0800368 MONDO:0016333 False cardiomyopathy, dilated, 1MM familial dilated cardiomyopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0800372 MONDO:0018772 False Joubert syndrome 29 Joubert syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0800436 MONDO:0031329 False craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development 1 craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS -MONDO:0800437 MONDO:0031415 False Carey-Fineman-Ziter syndrome 1 Carey-Fineman-Ziter syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING -MONDO:0800438 MONDO:0031632 False developmental delay with short stature, dysmorphic facial features, and sparse hair 1 developmental delay with short stature, dysmorphic facial features, and sparse hair UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0800444 MONDO:0000426 False Birt-Hogg-Dube syndrome autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0800444 MONDO:0002254 False Birt-Hogg-Dube syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0800445 MONDO:0800444 False Birt-Hogg-Dube syndrome 1 Birt-Hogg-Dube syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0800446 MONDO:0000009 False bleeding diathesis due to thromboxane synthesis deficiency inherited bleeding disorder, platelet-type UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0800447 MONDO:0020573 False bleeding disorder, platelet-type, 13, susceptibility to inherited disease susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0800448 MONDO:0019046 False leukoencephalopathy with vanishing white matter leukodystrophy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS -MONDO:0800449 MONDO:0015905 False lysosomal acid lipase deficiency syndromic dyslipidemia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0800449 MONDO:0019245 False lysosomal acid lipase deficiency lysosomal lipid storage disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0800450 MONDO:0003847 False microcephaly, short stature, and impaired glucose metabolism hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0800455 MONDO:0800444 False Birt-Hogg-Dube syndrome 2 Birt-Hogg-Dube syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0800486 MONDO:0005381 False metabolic bone disorder bone disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0810000 MONDO:0005328 False choroidal neovascularization eye disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0850001 MONDO:0016295 False congenital neuronal ceroid lipofuscinosis neuronal ceroid lipofuscinosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0850007 MONDO:0001854 False syndromic lacrimal system disorder lacrimal apparatus disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0850008 MONDO:0005328 False anterior segment developmental abnormality with extraocular manifestations eye disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0850009 MONDO:0002254 False syndromic microspherophakia syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -32447,206 +32797,46 @@ MONDO:0850046 MONDO:0024575 False amniotic fluid embolism pregnancy disorder UNS MONDO:0850048 MONDO:0023076 False classic eosinophilic pustular folliculitis eosinophilic pustular folliculitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0850049 MONDO:0002254 False painful legs and moving toes syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0850050 MONDO:0002254 False congenital aphakia-iris hypoplasia-microphthalmia-microcornea syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0850053 MONDO:0019751 False F12-associated cold autoinflammatory syndrome autoinflammatory syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0850054 MONDO:0002243 False hemophilia B leyden hemorrhagic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0850058 MONDO:0001982 False chronic neurovisceral acid sphingomyelinase deficiency Niemann-Pick disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0850059 MONDO:0002254 False hereditary persistence of fetal hemoglobin-intellectual disability syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0850064 MONDO:0015356 False inherited hematologic cancer-predisposing syndrome hereditary neoplastic syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0850065 MONDO:0019751 False neonatal-onset severe multisystemic autoinflammatory disease with increased IL18 autoinflammatory syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0850066 MONDO:0019751 False SAMD9L-associated autoinflammatory syndrome autoinflammatory syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0850067 MONDO:0009453 False immune deficiency due to impaired neutrophil phagocytosis and migration immune deficiency disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0850068 MONDO:0005046 False early-onset autoimmunity-autoinflammation-immunodeficiency syndrome immune system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0850069 MONDO:0020083 False familial hyperinflammatory lymphoproliferative immunodeficiency immunodeficiency-associated lymphoproliferative disease UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0850070 MONDO:0005046 False CADINS disease immune system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0850071 MONDO:0002254 False developmental delay-immunodeficiency-leukoencephalopathy-hypohomocysteinemia syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0850072 MONDO:0015337 False non-syndromic unisutural craniosynostosis isolated craniosynostosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0850073 MONDO:0015469 False non-syndromic unicoronal craniosynostosis craniosynostosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0850074 MONDO:0015469 False non-syndromic unilambdoid craniosynostosis craniosynostosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0850075 MONDO:0015469 False non-syndromic unifrontosphenoidal craniosynostosis craniosynostosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0850076 MONDO:0015469 False non-syndromic unisquamosal craniosynostosis craniosynostosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0850077 MONDO:0015469 False non-syndromic multisutural craniosynostosis craniosynostosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0850078 MONDO:0015469 False non-syndromic non-specific multisutural craniosynostosis craniosynostosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0850079 MONDO:0015469 False non-syndromic bilambdoid craniosynostosis craniosynostosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0850080 MONDO:0015469 False non-syndromic unicoronal and sagittal craniosynostosis craniosynostosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0850081 MONDO:0015469 False non-syndromic metopic and sagittal craniosynostosis craniosynostosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0850082 MONDO:0015469 False non-syndromic bicoronal and metopic craniosynostosis craniosynostosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0850083 MONDO:0015469 False non-syndromic bicoronal and sagittal craniosynostosis craniosynostosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0850084 MONDO:0001411 False non-syndromic pansynostosis synostosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0850087 MONDO:0002254 False primary hypomagnesemia-generalized seizures-intellectual disability-obesity syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0850088 MONDO:0018100 False EGF-related primary hypomagnesemia with intellectual disability familial primary hypomagnesemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0850089 MONDO:0100191 False Gitelman-like kidney tubulopathy due to mitochondrial DNA mutation inherited kidney disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0850090 MONDO:0002254 False fibrosis-neurodegeneration-cerebral angiomatosis syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0850092 MONDO:0002254 False post-cardiac arrest syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0850093 MONDO:0000411 False absence epilepsy electroclinical syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0850094 MONDO:0005365 False drug-induced hearing loss hearing loss disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0850095 MONDO:0005561 False X-linked severe syndromic thoracic aortic aneurysm and dissection aortic disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0850096 MONDO:0016763 False SBDS-related severe neonatal spondylometaphyseal dysplasia spondylometaphyseal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0850097 MONDO:0015588 False autoimmune limbic encephalitis limbic encephalitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0850097 MONDO:0020640 False autoimmune limbic encephalitis autoimmune encephalitis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0850098 MONDO:0005372 False oligoasthenoteratozoospermia male infertility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0850099 MONDO:0016761 False MIR140-related spondyloepiphyseal dysplasia spondyloepiphyseal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0850100 MONDO:0002025 False body integrity dysphoria psychiatric disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0850101 MONDO:0005012 False spitzoid melanoma cutaneous melanoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0850102 MONDO:0007179 False non-specific autoimmune supratentorial encephalitis with characteristic antibodies autoimmune disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0850103 MONDO:0007179 False non-specific autoimmune supratentorial encephalitis without characteristic antibodies autoimmune disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0850104 MONDO:0019956 False paraneoplastic isolated brainstem encephalitis encephalitis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0850105 MONDO:0007179 False non-specific autoimmune brainstem encephalitis with characteristic antibodies autoimmune disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0850106 MONDO:0007179 False non-specific autoimmune brainstem encephalitis without characteristic antibodies autoimmune disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0850107 MONDO:0020010 False postinfectious cerebellitis infectious disorder of the nervous system UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0850108 MONDO:0007179 False non-specific autoimmune cerebellar ataxia with characteristic antibodies autoimmune disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0850109 MONDO:0007179 False non-specific autoimmune cerebellar ataxia without characteristic antibodies autoimmune disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0850110 MONDO:0005012 False melanoma in congenital melanocytic nevus cutaneous melanoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0850112 MONDO:0000430 False breast implant-associated anaplastic large cell lymphoma mature T-cell and NK-cell non-Hodgkin lymphoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0850115 MONDO:0002254 False early-onset obesity-hyperphagia-severe developmental delay syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0850122 MONDO:0005061 False solid adenocarcinoma with mucin production lung adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0850123 MONDO:0056804 False autonomic nervous system benign neoplasm benign neoplasm of peripheral nervous system UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0850125 MONDO:0004992 False malignant adenoma cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0850126 MONDO:0003125 False testicular sex cord-stromal benign neoplasm testicular sex cord-stromal neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0850127 MONDO:0015798 False epithelioid inflammatory myofibroblastic sarcoma inflammatory myofibroblastic tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0850128 MONDO:0003150 False epididymis disease male reproductive system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0850129 MONDO:0002516 False gastroesophageal cancer digestive system cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0850130 MONDO:0004970 False gastroesophageal adenocarcinoma adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0850144 MONDO:0005040 False germ cell benign neoplasm germ cell tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0850144 MONDO:0005165 False germ cell benign neoplasm benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0850149 MONDO:0002513 False nephroma kidney benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0850150 MONDO:0005240 False kidney cortex disease kidney disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0850151 MONDO:0001082 False lymph node carcinoma lymph node cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0850151 MONDO:0004993 False lymph node carcinoma carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0850152 MONDO:0000633 False auditory system benign neoplasm sensory organ benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0850152 MONDO:0002409 False auditory system benign neoplasm auditory system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0850154 MONDO:0004631 False tongue carcinoma tongue cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0850154 MONDO:0044925 False tongue carcinoma oral cavity carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0850156 MONDO:0004947 False B-lymphoblastic leukemia/lymphoma MLL rearranged B-cell acute lymphoblastic leukemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0850157 MONDO:0004947 False B-lymphoblastic leukemia/lymphoma with ETV6-RUNX1 B-cell acute lymphoblastic leukemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0850160 MONDO:0004947 False B-lymphoblastic leukemia/lymphoma with IL3-IGH B-cell acute lymphoblastic leukemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0850161 MONDO:0004947 False B-lymphoblastic leukemia/lymphoma, BCR-ABL1–like B-cell acute lymphoblastic leukemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0850162 MONDO:0004947 False B-lymphoblastic leukemia/lymphoma with IAMP21 B-cell acute lymphoblastic leukemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0850170 MONDO:0001516 False spinal muscular atrophy type 0 spinal muscular atrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0850196 MONDO:0007959 False medulloblastoma WNT activated medulloblastoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0850197 MONDO:0007959 False medulloblastoma SHH activated medulloblastoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0850198 MONDO:0007959 False medulloblastoma non-WNT/non-SHH medulloblastoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0850199 MONDO:0003778 False NK cell deficiency inborn error of immunity UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0850200 MONDO:0003778 False T cell and NK cell immunodeficiency inborn error of immunity UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0850201 MONDO:0002254 False hereditary alpha tryptasemia syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0850223 MONDO:0000603 False Libman-Sacks endocarditis autoimmune disorder of cardiovascular system UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0850223 MONDO:0005025 False Libman-Sacks endocarditis endocarditis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0850225 MONDO:0004789 False autoimmune cholangitis cholangitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0850225 MONDO:0016264 False autoimmune cholangitis autoimmune hepatitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0850230 MONDO:0005492 False chronic urticaria urticaria UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0850231 MONDO:0006591 False erythema nodosum panniculitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0850257 MONDO:0004957 False mucinous pancreas adenocarcinoma mucinous adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0850257 MONDO:0006047 False mucinous pancreas adenocarcinoma pancreatic adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0850267 MONDO:0018872 False childhood acute megakaryoblastic leukemia acute megakaryoblastic leukemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0850269 MONDO:0018874 False core binding factor acute myeloid leukemia acute myeloid leukemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0850271 MONDO:0018872 False myeloid leukemia associated with down syndrome acute megakaryoblastic leukemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0850273 MONDO:0000521 False salivary gland mucinous adenocarcinoma salivary gland carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0850273 MONDO:0004957 False salivary gland mucinous adenocarcinoma mucinous adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0850281 MONDO:0000521 False mammary analog secretory carcinoma salivary gland carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0850282 MONDO:0004979 False chronic asthma asthma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0850283 MONDO:0004979 False acute asthma asthma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0850284 MONDO:0850282 False extrinsic asthma chronic asthma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0850285 MONDO:0004765 False environmental induced asthma intrinsic asthma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0850286 MONDO:0004765 False exercise-induced bronchoconstriction intrinsic asthma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0850287 MONDO:0004765 False aspirin-induced respiratory disease intrinsic asthma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0850289 MONDO:0005108 False human betaherpesvirus 5 infectious disease viral infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0850292 MONDO:0002039 False subjective cognitive decline cognitive disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0850295 MONDO:0004382 False acquired laryngomalacia laryngeal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0850301 MONDO:0019337 False pemphigoid autoimmune bullous skin disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0850302 MONDO:0016642 False intracranial meningioma meningioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0850303 MONDO:0016642 False supratentorial meningioma meningioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0850306 MONDO:0005147 False latent autoimmune diabetes in adults type 1 diabetes mellitus UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0850312 MONDO:0021636 False anaplastic pleomorphic xanthoastrocytoma astrocytic tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0850332 MONDO:0016684 False IDH-mutant anaplastic astrocytoma anaplastic astrocytoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0850333 MONDO:0016684 False IDH-wildtype anaplastic astrocytoma anaplastic astrocytoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0850335 MONDO:0018177 False IDH-wildtype glioblastoma glioblastoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0850338 MONDO:0003473 False spinal ependymoma, MYCN-amplified spinal cord ependymoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0850339 MONDO:0016700 False posterior fossa ependymoma anaplastic ependymoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0850340 MONDO:0016700 False supratentorial ependymoma anaplastic ependymoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0850345 MONDO:0003573 False lung pleomorphic carcinoma pleomorphic carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0850345 MONDO:0006279 False lung pleomorphic carcinoma lung sarcomatoid carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0850346 MONDO:0005212 False oral rhabdomyosarcoma rhabdomyosarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0850346 MONDO:0005515 False oral rhabdomyosarcoma oral cavity cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0850347 MONDO:0002837 False bladder sarcomatoid transitional cell carcinoma sarcomatoid transitional cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0850347 MONDO:0005611 False bladder sarcomatoid transitional cell carcinoma bladder transitional cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0850348 MONDO:0004986 False bladder small cell carcinoma urinary bladder carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0850349 MONDO:0016707 False astroblastoma, MN1-altered astroblastoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0850353 MONDO:0005159 False castration-resistant prostate carcinoma prostate carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0850368 MONDO:0019065 False immunoglobulin heavy-and-light chain amyloidosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0850371 MONDO:0005010 False nonobstructive coronary artery disease coronary artery disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0850388 MONDO:0004378 False childhood supratentorial embryonal tumor with multilayered rosettes, C19MC-altered pediatric cerebral ependymoblastoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0850415 MONDO:0100150 False rhabdomyolysis-myalgia syndrome RYR1-related myopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0850416 MONDO:0000568 False autoimmune epilepsy autoimmune disorder of central nervous system UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0850416 MONDO:0005027 False autoimmune epilepsy epilepsy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0850417 MONDO:0018076 False tuberculous encephalopathy tuberculosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0850418 MONDO:0018905 False diffuse large B-cell lymphoma activated B-cell type diffuse large B-cell lymphoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0850419 MONDO:0018905 False diffuse large B-cell lymphoma germinal center B-cell type diffuse large B-cell lymphoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0850420 MONDO:0006515 False acute necrotizing pancreatitis acute pancreatitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0850421 MONDO:0006515 False acute hemorrhagic pancreatitis acute pancreatitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0850426 MONDO:0004095 False high-grade B-cell lymphoma double-hit/triple-hit B-cell neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0850445 MONDO:0000650 False benign peritoneal solitary fibrous tumor peritoneal benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0850449 MONDO:0020322 False mixed phenotype acute leukemia with BCR-ABL1 acute biphenotypic leukemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0850450 MONDO:0020322 False mixed phenotype acute leukemia with MLL rearranged acute biphenotypic leukemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0850451 MONDO:0020322 False mixed phenotype acute leukemia, B/myeloid acute biphenotypic leukemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0850452 MONDO:0020322 False mixed phenotype acute leukemia,T/myeloid acute biphenotypic leukemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0850459 MONDO:0000607 False primary cutaneous gamma-delta t-cell lymphoma primary cutaneous T-cell non-Hodgkin lymphoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0850461 MONDO:0000408 False neurobehavioral disorder with prenatal alcohol exposure fetal alcohol spectrum disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0850468 MONDO:0018905 False BN2 diffuse large B-cell lymphoma diffuse large B-cell lymphoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0850469 MONDO:0018905 False EZB diffuse large B-cell lymphoma diffuse large B-cell lymphoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0850470 MONDO:0018905 False MCD diffuse large B-cell lymphoma diffuse large B-cell lymphoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0850471 MONDO:0018905 False N1 diffuse large B-cell lymphoma diffuse large B-cell lymphoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0850472 MONDO:0018905 False ST2 diffuse large B-cell lymphoma diffuse large B-cell lymphoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0850473 MONDO:0018905 False A53 diffuse large B-cell lymphoma diffuse large B-cell lymphoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0850492 MONDO:0018874 False acute myeloid leukemia, t(8;21)(q22; q22.1) acute myeloid leukemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0850495 MONDO:0018874 False acute myeloid leukemia, t(1;22)(p13;q13) acute myeloid leukemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0850514 MONDO:0000426 False inclusion body myopathy and brain white matter abnormalities autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0850514 MONDO:0000507 False inclusion body myopathy and brain white matter abnormalities inclusion body myopathy with Paget disease of bone and frontotemporal dementia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS -MONDO:0850519 MONDO:0004736 False tetrahydrobiopterin (BH4)-deficient hyperphenylalaninemia inborn disorder of amino acid metabolism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0850618 MONDO:0005119 False injection anthrax anthrax infection UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0850812 MONDO:0003778 False dendritic cell deficiency inborn error of immunity UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0851095 MONDO:0000426 False KINSSHIP syndrome autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0851095 MONDO:0002254 False KINSSHIP syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0851100 MONDO:0002433 False malignant olfactory nerve neoplasm malignant cranial nerve neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0851102 MONDO:0000473 False pulmonary artery disease arterial disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0851102 MONDO:0005275 False pulmonary artery disease lung disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0851103 MONDO:0002263 False Bartholin's gland disease female reproductive system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0851105 MONDO:0000629 False cerebrovascular benign neoplasm cardiovascular organ benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0858910 MONDO:0000812 False dropped head syndrome vertebral column disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0858916 MONDO:0002109 False pituitary blastoma pituitary cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0858916 MONDO:0005565 False pituitary blastoma blastoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0858917 MONDO:0003164 False cauda equina neuroendocrine tumor cauda equina neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0858926 MONDO:0002254 False developmental delay, hypotrophy, and dysmorphic features without moebius syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0858939 MONDO:0100342 False diffuse pediatric-type high-grade glioma, H3-wildtype and IDH-wildtype malignant glioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0858940 MONDO:0021636 False infant-type hemispheric glioma astrocytic tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0858944 MONDO:0000628 False myxoid glioneuronal tumor central nervous system organ benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0858950 MONDO:0043510 False traumatic brain injury brain injury UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0858956 MONDO:0000628 False diffuse leptomeningeal glioneuronal tumor central nervous system organ benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0858957 MONDO:0000628 False multinodular and vacuolating neuronal tumor central nervous system organ benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0858958 MONDO:0016684 False high-grade astrocytoma with piloid features anaplastic astrocytoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0858959 MONDO:0000628 False polymorphous low grade neuroepithelial tumor of the young central nervous system organ benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0858960 MONDO:0003257 False spindle cell oncocytoma posterior pituitary gland neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0858966 MONDO:0000640 False central nervous system tumor with bcor internal tandem duplication central nervous system primitive neuroectodermal neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0858967 MONDO:0002216 False primary intracranial sarcoma, DICER1-mutant brain sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0858974 MONDO:0002254 False breast implant illness syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0858974 MONDO:0002657 False breast implant illness breast disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0858989 MONDO:0015150 False autosomal recessive spastic paraplegia type 84 complex hereditary spastic paraplegia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0858990 MONDO:0015150 False autosomal recessive spastic paraplegia type 85 complex hereditary spastic paraplegia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0858991 MONDO:0015150 False autosomal recessive spastic paraplegia type 86 complex hereditary spastic paraplegia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0858992 MONDO:0019064 False autosomal recessive spastic paraplegia type 87 hereditary spastic paraplegia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0858997 MONDO:0004992 False cancer of unknown primary site cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0858998 MONDO:0015159 False mesomelic dysplasia-digital anomalies-intellectual disability syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0858998 MONDO:0018230 False mesomelic dysplasia-digital anomalies-intellectual disability syndrome skeletal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0858999 MONDO:0015159 False KDM3B-related intellectual disability-facial dysmorphism-short stature syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0859000 MONDO:0015159 False SLC12A2-related developmental delay-intellectual disability-sensorineural deafness syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0859001 MONDO:0018354 False CPE-related Prader-Willi-like syndrome Prader-Willi-like syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0859002 MONDO:0015159 False intellectual disability-early-onset cataract-microcephaly syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0859003 MONDO:0019236 False PAICS deficiency inborn disorder of purine metabolism UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0859004 MONDO:0002041 False invasive scopulariopsis infection fungal infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0859005 MONDO:0018234 False preaxial digit brachydactyly-webbed fingers dysostosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0859005 MONDO:0021004 False preaxial digit brachydactyly-webbed fingers brachydactyly UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0859006 MONDO:0018230 False proximal femoral focal deficiency skeletal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0859006 MONDO:0018234 False proximal femoral focal deficiency dysostosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0859007 MONDO:0019289 False mosaic Legius syndrome hyperpigmentation of the skin UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0859008 MONDO:0015356 False neurofibromatosis/schwannomatosis hereditary neoplastic syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0859046 MONDO:0005212 False rhabdomyosarcoma, embryonal, 2 rhabdomyosarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0859050 MONDO:0020573 False Schistosoma mansoni infection, susceptibility/resistance to inherited disease susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0859080 MONDO:0020119 False intellectual developmental disorder, X-linked, syndromic, with pigmentary mosaicism and coarse facies X-linked syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING @@ -32654,7 +32844,6 @@ MONDO:0859081 MONDO:0019040 False chromosome Xq13 duplication syndrome chromosom MONDO:0859082 MONDO:0100240 False thrombophilia, X-linked, due to factor 8 defect inherited thrombophilia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0859083 MONDO:0007915 False systemic lupus erythematosus 17 systemic lupus erythematosus UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0859085 MONDO:0700092 False neurodevelopmental disorder with gait disturbance, dysmorphic facies, and behavioral abnormalities, X-linked neurodevelopmental disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0859086 MONDO:0019181 False intellectual developmental disorder, X-linked 110 non-syndromic X-linked intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0859136 MONDO:0700092 False Alzahrani-Kuwahara syndrome neurodevelopmental disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0859137 MONDO:0700092 False neurodevelopmental disorder with spasticity, cataracts, and cerebellar hypoplasia neurodevelopmental disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0859139 MONDO:0003847 False blepharophimosis-impaired intellectual development syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -32676,7 +32865,6 @@ MONDO:0859156 MONDO:0018234 False dysostosis multiplex, Ain-Naz type dysostosis MONDO:0859157 MONDO:0016829 False visceral myopathy 2 familial visceral myopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0859158 MONDO:0003847 False ataxia, intention tremor, and hypotonia syndrome, childhood-onset hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0859159 MONDO:0003847 False deafness, cataract, impaired intellectual development, and polyneuropathy hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0859160 MONDO:0033885 False Mitochondrial complex IV deficiency, nuclear type 22 mitochondrial complex IV deficiency, nuclear-type UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0859161 MONDO:0003847 False onychodystrophy, osteodystrophy, impaired intellectual development, and seizures syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0859162 MONDO:0700092 False neurodevelopmental disorder with infantile epileptic spasms neurodevelopmental disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0859163 MONDO:0003847 False Faundes-Banka syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -32687,7 +32875,6 @@ MONDO:0859167 MONDO:0003847 False hypokalemic tubulopathy and deafness hereditar MONDO:0859168 MONDO:0018943 False myopathy, myofibrillar, 12, infantile-onset, with cardiomyopathy myofibrillar myopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0859169 MONDO:0003847 False White-Kernohan syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0859170 MONDO:0003847 False retinal dystrophy and microvillus inclusion disease hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0859171 MONDO:0003847 False Luo-Schoch-Yamamoto syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0859172 MONDO:0003664 False hemolytic disease of fetus and newborn, RH-induced hemolytic anemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0859173 MONDO:0012061 False sick sinus syndrome 4 familial sick sinus syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0859174 MONDO:0003847 False Usmani-Riazuddin syndrome, autosomal dominant hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -32708,12 +32895,10 @@ MONDO:0859188 MONDO:0700092 False neurodevelopmental disorder with seizures and MONDO:0859189 MONDO:0003847 False muscular dystrophy, congenital hearing loss, and ovarian insufficiency syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0859190 MONDO:0003847 False neurodevelopmental-craniofacial syndrome with variable renal and cardiac abnormalities hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0859191 MONDO:0003847 False biliary, renal, neurologic, and skeletal syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0859192 MONDO:0031037 False cerebral cavernous malformation 4 famililal cerebral cavernous malformations UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0859193 MONDO:0005071 False neuroocular syndrome nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0859193 MONDO:0005328 False neuroocular syndrome eye disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0859194 MONDO:0003847 False Boudin-Mortier syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0859196 MONDO:0003847 False Usmani-Riazuddin syndrome, autosomal recessive hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0859197 MONDO:0003847 False intellectual developmental disorder with hypotonia, impaired speech, and dysmorphic facies hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0859198 MONDO:0003847 False short stature, impaired intellectual development, microcephaly, hypotonia, and ocular anomalies hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0859199 MONDO:0003847 False developmental delay with or without intellectual impairment or behavioral abnormalities hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0859200 MONDO:0003847 False cerebellar ataxia, brain abnormalities, and cardiac conduction defects hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -32725,7 +32910,6 @@ MONDO:0859205 MONDO:0002263 False delayed puberty, self-limited female reproduct MONDO:0859205 MONDO:0003847 False delayed puberty, self-limited hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0859206 MONDO:0700092 False neurodevelopmental disorder with hearing loss and spasticity neurodevelopmental disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0859207 MONDO:0700092 False neurodevelopmental disorder with hypotonia and gross motor and speech delay neurodevelopmental disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0859208 MONDO:0003847 False Hengel-Maroofian-Schols syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0859209 MONDO:0003847 False Zaki syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0859210 MONDO:0019040 False chromosome 16q12 duplication syndrome chromosomal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0859211 MONDO:0700092 False neurodevelopmental disorder with hyperkinetic movements and dyskinesia neurodevelopmental disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -32744,24 +32928,19 @@ MONDO:0859223 MONDO:0015286 False congenital disorder of glycosylation, type Iw, MONDO:0859224 MONDO:0003847 False intellectual disability and myopathy syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0859225 MONDO:0700092 False neurodevelopmental disorder with or without variable movement or behavioral abnormalities neurodevelopmental disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0859226 MONDO:0018230 False craniotubular dysplasia, Ikegawa type skeletal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0859228 MONDO:0000732 False combined oxidative phosphorylation deficiency 55 combined oxidative phosphorylation deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0859229 MONDO:0003847 False cerebellar dysfunction, impaired intellectual development, and hypogonadotropic hypogonadism hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0859230 MONDO:0003847 False Kury-Isidor syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0859231 MONDO:0003847 False macrocephaly, neurodevelopmental delay, lymphoid hyperplasia, and persistent fetal hemoglobin hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0859232 MONDO:0700092 False neurodevelopmental disorder with central hypotonia and dysmorphic facies neurodevelopmental disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0859233 MONDO:0017612 False epidermolysis bullosa, junctional 6, with pyloric atresia junctional epidermolysis bullosa UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING -MONDO:0859234 MONDO:0015977 False agammaglobulinemia 8b, autosomal recessive agammaglobulinemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS MONDO:0859235 MONDO:0021944 False auditory neuropathy, autosomal dominant 3 auditory neuropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0859236 MONDO:0700092 False neurodevelopmental disorder with neuromuscular and skeletal abnormalities neurodevelopmental disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0859237 MONDO:0017359 False 3-methylglutaconic aciduria, type VIIA 3-methylglutaconic aciduria UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS MONDO:0859238 MONDO:0032766 False hypoalphalipoproteinemia, primary, 2, intermediate hypoalphalipoproteinemia, primary, 2 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0859239 MONDO:0700092 False Chilton-Okur-Chung neurodevelopmental syndrome neurodevelopmental disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0859240 MONDO:0003847 False intellectual developmental disorder with or without peripheral neuropathy hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0859241 MONDO:0005559 False neurodegeneration, childhood-onset, with progressive microcephaly neurodegenerative disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0859242 MONDO:0019046 False leukodystrophy, hypomyelinating, 24 leukodystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS MONDO:0859243 MONDO:0700092 False neurodevelopmental disorder with hypotonia, impaired speech, and behavioral abnormalities neurodevelopmental disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0859244 MONDO:0003847 False phosphoribosylaminoimidazole carboxylase deficiency hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0859245 MONDO:0015244 False spinocerebellar ataxia, autosomal recessive 32 autosomal recessive cerebellar ataxia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS MONDO:0859246 MONDO:0019046 False leukodystrophy, childhood-onset, remitting leukodystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0859247 MONDO:0003847 False neurocardiofaciodigital syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0859248 MONDO:0018102 False corneal dystrophy, punctiform and polychromatic pre-descemet corneal dystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -32779,7 +32958,6 @@ MONDO:0859260 MONDO:0700092 False Dworschak-Punetha neurodevelopmental syndrome MONDO:0859261 MONDO:0007743 False attention deficit-hyperactivity disorder 8 attention deficit-hyperactivity disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0859262 MONDO:0003847 False ACCES syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0859263 MONDO:0003847 False developmental delay, impaired speech, and behavioral abnormalities, with or without seizures hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0859264 MONDO:0019952 False congenital myopathy 11 congenital myopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0859265 MONDO:0700092 False neurodevelopmental disorder with epilepsy and brain atrophy neurodevelopmental disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0859266 MONDO:0700092 False neurodevelopmental disorder with severe motor impairment, absent language, cerebral hypomyelination, and brain atrophy neurodevelopmental disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0859267 MONDO:0015356 False tumor predisposition syndrome 2 hereditary neoplastic syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -32791,8 +32969,6 @@ MONDO:0859275 MONDO:0700092 False neurodevelopmental disorder with spasticity, s MONDO:0859276 MONDO:0003847 False primordial dwarfism-immunodeficiency-lipodystrophy syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0859277 MONDO:0003847 False intellectual developmental disorder with muscle tone abnormalities and distal skeletal defects hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0859278 MONDO:0003847 False keratoderma-ichthyosis-deafness syndrome, autosomal recessive hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0859279 MONDO:0015363 False spinal muscular atrophy, distal, autosomal recessive, 6 neuronopathy, distal hereditary motor, autosomal recessive UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING -MONDO:0859280 MONDO:0003847 False developmental delay, hypotonia, and impaired language hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0859281 MONDO:0003847 False intellectual developmental disorder with autism and dysmorphic facies hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0859282 MONDO:0700092 False neurodevelopmental disorder with microcephaly, movement abnormalities, and seizures neurodevelopmental disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0859283 MONDO:0700092 False neurodevelopmental disorder with seizures, microcephaly, and brain abnormalities neurodevelopmental disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -32808,7 +32984,6 @@ MONDO:0859295 MONDO:0700092 False neurodevelopmental disorder with short stature MONDO:0859296 MONDO:0700092 False neurodevelopmental disorder with poor growth, spastic tetraplegia, and hearing loss neurodevelopmental disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0859297 MONDO:0700092 False neurodevelopmental disorder with dysmorphic facies and skeletal and brain abnormalities neurodevelopmental disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0859298 MONDO:0700092 False neurodevelopmental disorder with facial dysmorphism, absent language, and pseudo-pelger-huet anomaly neurodevelopmental disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0859300 MONDO:0015362 False neuronopathy, distal hereditary motor, autosomal dominant 10 neuronopathy, distal hereditary motor, autosomal dominant UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0859301 MONDO:0700092 False neurodevelopmental disorder with craniofacial dysmorphism and skeletal defects neurodevelopmental disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0859302 MONDO:0003847 False hypermetabolism due to uncoupled mitochondrial oxidative phosphorylation 2 hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0859303 MONDO:0003847 False intellectual developmental disorder with ocular anomalies and distinctive facial features hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS @@ -32816,273 +32991,98 @@ MONDO:0859304 MONDO:0005559 False neurodegeneration, childhood-onset, with multi MONDO:0859305 MONDO:0700092 False neurodevelopmental disorder with eye movement abnormalities and ataxia neurodevelopmental disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0859306 MONDO:0003847 False developmental delay with variable intellectual disability and dysmorphic facies hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0859307 MONDO:0005516 False cleidocranial dysplasia 2 osteochondrodysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0859308 MONDO:0019200 False retinitis pigmentosa 95 retinitis pigmentosa UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING -MONDO:0859309 MONDO:0019064 False spastic paraplegia 88, autosomal dominant hereditary spastic paraplegia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0859310 MONDO:0003847 False orofaciodigital syndrome 19 hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0859311 MONDO:0015626 False Charcot-Marie-Tooth disease, demyelinating, type 1J Charcot-Marie-Tooth disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0859312 MONDO:0700092 False neurodevelopmental disorder with growth retardation, dysmorphic facies, and corpus callosum abnormalities neurodevelopmental disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0859313 MONDO:0700092 False neurodevelopmental disorder with speech impairment and with or without seizures neurodevelopmental disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0859314 MONDO:0100062 False developmental and epileptic encephalopathy 108 developmental and epileptic encephalopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS MONDO:0859316 MONDO:0020573 False iron overload, susceptibility to inherited disease susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0859317 MONDO:0006025 False pseudohypoaldosteronism, type IB2, autosomal recessive autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0859317 MONDO:0100323 False pseudohypoaldosteronism, type IB2, autosomal recessive inherited pseudohypoaldosteronism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0859318 MONDO:0006025 False pseudohypoaldosteronism, type IB3, autosomal recessive autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0859318 MONDO:0100323 False pseudohypoaldosteronism, type IB3, autosomal recessive inherited pseudohypoaldosteronism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0859319 MONDO:0015780 False dyskeratosis congenita, autosomal recessive 8 dyskeratosis congenita UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING -MONDO:0859320 MONDO:0100223 False mitochondrial complex I deficiency, nuclear type 39 mitochondrial complex I deficiency, nuclear type UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING -MONDO:0859321 MONDO:0020811 False mitochondrial complex 3 deficiency, nuclear type 11 mitochondrial complex III deficiency, nuclear type UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0859322 MONDO:0003847 False myopathy with myalgia, increased serum creatine kinase, and with or without episodic rhabdomyolysis hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0859323 MONDO:0000732 False combined oxidative phosphorylation deficiency 56 combined oxidative phosphorylation deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0859324 MONDO:0003847 False developmental delay, language impairment, and ocular abnormalities hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0859325 MONDO:0100062 False developmental and epileptic encephalopathy 109 developmental and epileptic encephalopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS -MONDO:0859327 MONDO:0100062 False developmental and epileptic encephalopathy 110 developmental and epileptic encephalopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS -MONDO:0859328 MONDO:0018100 False hypomagnesemia 7, renal, with or without dilated cardiomyopathy familial primary hypomagnesemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING -MONDO:0859329 MONDO:0000141 False mosaic variegated aneuploidy syndrome 4 mosaic variegated aneuploidy syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING -MONDO:0859330 MONDO:0014769 False oocyte maturation defect 13 inherited oocyte maturation defect UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0859331 MONDO:0003847 False Rabin-Pappas syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0859332 MONDO:0000904 False cortical dysplasia, complex, with other brain malformations 11 complex cortical dysplasia with other brain malformations UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING -MONDO:0859333 MONDO:0100172 False intellectual developmental disorder, autosomal dominant 70 intellectual disability, autosomal dominant UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0859333 MONDO:0800477 False intellectual developmental disorder, autosomal dominant 70 SETD2-related neurodevelopmental disorder without or with macrocephaly/overgrowth UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0859334 MONDO:0020380 False spinocerebellar ataxia 50 autosomal dominant cerebellar ataxia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING -MONDO:0859335 MONDO:0019952 False congenital myopathy 15 congenital myopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS MONDO:0859336 MONDO:0003847 False muscular dystrophy, congenital, with or without seizures hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0859337 MONDO:0000732 False combined oxidative phosphorylation deficiency 57 combined oxidative phosphorylation deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING -MONDO:0859338 MONDO:0004983 False spermatogenic failure 78 spermatogenic failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING -MONDO:0859339 MONDO:0005486 False tooth agenesis, selective, 10 tooth agenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING -MONDO:0859340 MONDO:0020380 False spinocerebellar ataxia 27B, late-onset autosomal dominant cerebellar ataxia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING -MONDO:0859341 MONDO:0003037 False hypotrichosis 15 hypotrichosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING -MONDO:0859342 MONDO:0016660 False microcephaly 30, primary, autosomal recessive autosomal recessive primary microcephaly UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0859345 MONDO:0003847 False branchial arch abnormalities, choanal atresia, athelia, hearing loss, and hypothyroidism syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0859346 MONDO:0000141 False mosaic variegated aneuploidy syndrome 7 with inflammation and tumor predisposition mosaic variegated aneuploidy syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0859347 MONDO:0700092 False neurodevelopmental disorder with hypotonia, dysmorphic facies, and skin abnormalities neurodevelopmental disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0859350 MONDO:0700092 False neurodevelopmental disorder with poor growth, large ears, and dysmorphic facies neurodevelopmental disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0859351 MONDO:0003847 False obesity and hypopigmentation hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0859352 MONDO:0004983 False spermatogenic failure 79 spermatogenic failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING -MONDO:0859353 MONDO:0016575 False ciliary dyskinesia, primary, 49, without situs inversus primary ciliary dyskinesia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING -MONDO:0859354 MONDO:0031432 False thyroid hormone metabolism, abnormal, 3 thyroid hormone metabolism, abnormal UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0859355 MONDO:0016382 False inflammatory poikiloderma with hair abnormalities and acral keratoses hereditary poikiloderma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0859356 MONDO:0005501 False congenital disorder of glycosylation, type IIy congenital disorder of glycosylation type II UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING -MONDO:0859357 MONDO:0005501 False congenital disorder of glycosylation, type IIz congenital disorder of glycosylation type II UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING -MONDO:0859358 MONDO:0016333 False cardiomyopathy, dilated, 2H familial dilated cardiomyopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING -MONDO:0859360 MONDO:0015244 False spinocerebellar ataxia, autosomal recessive 33 autosomal recessive cerebellar ataxia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS MONDO:0859361 MONDO:0700092 False neurodevelopmental disorder with dysmorphic facies and ischiopubic hypoplasia neurodevelopmental disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0859362 MONDO:0005803 False hyperinsulinemic hypoglycemia, familial, 8 hyperinsulinemic hypoglycemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS -MONDO:0859363 MONDO:0019064 False spastic paraplegia 79A, autosomal dominant, with ataxia hereditary spastic paraplegia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING -MONDO:0859364 MONDO:0004983 False spermatogenic failure 80 spermatogenic failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0859365 MONDO:0700092 False neurodevelopmental disorder with hypotonia, dysmorphic facies, and skeletal anomalies, with or without seizures neurodevelopmental disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0859366 MONDO:0019587 False hearing loss, autosomal dominant 85 autosomal dominant nonsyndromic hearing loss UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING -MONDO:0859367 MONDO:0019200 False retinitis pigmentosa 96 retinitis pigmentosa UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0859368 MONDO:0000453 False short QT syndrome 7 short QT syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0859369 MONDO:0003847 False joint contractures, osteochondromas, and B-cell lymphoma hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0859370 MONDO:0003847 False respiratory infections, recurrent, and failure to thrive with or without diarrhea hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0859371 MONDO:0020573 False rhabdomyolysis, susceptibility to, 1 inherited disease susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0859372 MONDO:0024573 False cardiomyopathy, familial hypertrophic, 29, with polyglucosan bodies familial hypertrophic cardiomyopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING -MONDO:0859373 MONDO:0019502 False intellectual developmental disorder, autosomal recessive 78 autosomal recessive non-syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING -MONDO:0859374 MONDO:0019588 False hearing loss, autosomal recessive 120 hearing loss, autosomal recessive UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0859375 MONDO:0003847 False developmental delay with hypotonia, myopathy, and brain abnormalities hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0859376 MONDO:0020573 False hydrocephalus, congenital, 5, susceptibility to inherited disease susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0859377 MONDO:0700092 False neurodevelopmental disorder with poor growth and behavioral abnormalities neurodevelopmental disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0859378 MONDO:0019046 False leukodystrophy, hypomyelinating, 25 leukodystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS -MONDO:0859379 MONDO:0019313 False lymphatic malformation 13 lymphatic malformation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING -MONDO:0859380 MONDO:0044202 False episodic kinesigenic dyskinesia 3 episodic kinesigenic dyskinesia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING -MONDO:0859381 MONDO:0016333 False cardiomyopathy, dilated, 100 familial dilated cardiomyopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING -MONDO:0859382 MONDO:0005129 False cataract 50 with or without glaucoma cataract UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0859383 MONDO:0015947 False ichthyosis hystrix inherited ichthyosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0859390 MONDO:0015653 False epilepsy, X-linked, with or without impaired intellectual development and dysmorphic features monogenic epilepsy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0859393 MONDO:0003847 False Atelis syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0859477 MONDO:0004983 False spermatogenic failure, X-linked, 5 spermatogenic failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING -MONDO:0859478 MONDO:0004983 False spermatogenic failure, X-linked, 6 spermatogenic failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING -MONDO:0859514 MONDO:0019952 False congenital myopathy 18 congenital myopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS -MONDO:0859515 MONDO:0019952 False congenital myopathy 10b, mild variant congenital myopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS MONDO:0859516 MONDO:0700092 False neurodevelopmental disorder with seizures, spasticity, and complete or partial agenesis of the corpus callosum neurodevelopmental disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0859517 MONDO:0019952 False congenital myopathy 2b, severe infantile, autosomal recessive congenital myopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS -MONDO:0859518 MONDO:0019046 False leukodystrophy, hypomyelinating, 26, with chondrodysplasia leukodystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS MONDO:0859519 MONDO:0700092 False neurodevelopmental disorder with absent speech and movement and behavioral abnormalities neurodevelopmental disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0859520 MONDO:0033885 False Mitochondrial complex IV deficiency, nuclear type 23 mitochondrial complex IV deficiency, nuclear-type UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING -MONDO:0859521 MONDO:0014769 False oocyte maturation defect 14 inherited oocyte maturation defect UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING -MONDO:0859522 MONDO:0004983 False spermatogenic failure 81 spermatogenic failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING -MONDO:0859523 MONDO:0019952 False congenital myopathy 2c, severe infantile, autosomal dominant congenital myopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS -MONDO:0859524 MONDO:0019587 False hearing loss, autosomal dominant 86 autosomal dominant nonsyndromic hearing loss UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING -MONDO:0859525 MONDO:0019587 False hearing loss, autosomal dominant 87 autosomal dominant nonsyndromic hearing loss UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING -MONDO:0859526 MONDO:0021094 False immunodeficiency 109 with lymphoproliferation immunodeficiency disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING -MONDO:0859527 MONDO:0019587 False hearing loss, autosomal dominant 88 autosomal dominant nonsyndromic hearing loss UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING -MONDO:0859528 MONDO:0019587 False hearing loss, autosomal dominant 89 autosomal dominant nonsyndromic hearing loss UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING -MONDO:0859529 MONDO:0005144 False amyotrophic lateral sclerosis 27, juvenile familial amyotrophic lateral sclerosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0859530 MONDO:0005336 False myopathy, sarcoplasmic body myopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0859531 MONDO:0700092 False neurodevelopmental disorder with language delay and behavioral abnormalities, with or without seizures neurodevelopmental disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0859532 MONDO:0000119 False congenital heart defects, multiple types, 9 congenital heart defects, multiple types UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0859564 MONDO:0859390 False epilepsy, X-linked 2, with or without impaired intellectual development and dysmorphic features epilepsy, X-linked, with or without impaired intellectual development and dysmorphic features UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING -MONDO:0859567 MONDO:0031329 False craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development syndrome 2 craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS -MONDO:0859568 MONDO:0031166 False macular dystrophy, retinal, 4 macular dystrophy, retinal UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING -MONDO:0859569 MONDO:0031646 False braddock-carey syndrome 1 Braddock-Carey syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING -MONDO:0859570 MONDO:0031646 False braddock-carey syndrome 2 Braddock-Carey syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING -MONDO:0859571 MONDO:0005711 False diaphragmatic hernia 4, with cardiovascular defects congenital diaphragmatic hernia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING -MONDO:0859572 MONDO:0031323 False cardiac valvular dysplasia 2 cardiac valvular defect UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING -MONDO:0859573 MONDO:0031615 False bent bone dysplasia syndrome 2 familial bent bone dysplasia syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING -MONDO:0859574 MONDO:0011870 False ichthyosis, annular epidermolytic, 2 annular epidermolytic ichthyosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING -MONDO:0859575 MONDO:0000141 False Atelis syndrome 1 mosaic variegated aneuploidy syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING -MONDO:0859575 MONDO:0859393 False Atelis syndrome 1 Atelis syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING -MONDO:0859576 MONDO:0000141 False Atelis syndrome 2 mosaic variegated aneuploidy syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING -MONDO:0859576 MONDO:0859393 False Atelis syndrome 2 Atelis syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING -MONDO:0859577 MONDO:0007872 False lacrimoauriculodentodigital syndrome 2 LADD syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING -MONDO:0859578 MONDO:0007872 False lacrimoauriculodentodigital syndrome 3 LADD syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING -MONDO:0859588 MONDO:0018855 False keratosis pilaris atrophicans faciei keratosis pilaris atrophicans UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0859591 MONDO:0021637 False childhood low-grade glioma low grade glioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0859592 MONDO:0016696 False IDH-mutant and 1p/19q-codeleted oligodendroglioma anaplastic oligodendroglioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0859597 MONDO:0002900 False cns neuroblastoma with FOXR2 activation cerebral neuroblastoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0859598 MONDO:0017858 False erythroleukemia acute erythroid leukemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0859614 MONDO:0021637 False diffuse low-grade glioma, MAPK pathway–altered low grade glioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0859615 MONDO:0016686 False diffuse astrocytoma, MYB- or MYBL1-altered diffuse astrocytoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0859689 MONDO:0000385 False hepatobiliary benign neoplasm benign digestive system neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0859690 MONDO:0850125 False malignant cystadenoma malignant adenoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0859692 MONDO:0016593 False immune-mediated cerebellar ataxia acquired ataxia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0859747 MONDO:0019466 False grade I lymphomatoid granulomatosis lymphomatoid granulomatosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0859748 MONDO:0019466 False grade II lymphomatoid granulomatosis lymphomatoid granulomatosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0859749 MONDO:0019466 False grade III lymphomatoid granulomatosis lymphomatoid granulomatosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0859761 MONDO:0859000 False SLC12A2-related autosomal recessive neonatal-developmental delay-intellectual disability-feeding difficulty-sensorineural deafness syndrome SLC12A2-related developmental delay-intellectual disability-sensorineural deafness syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0859762 MONDO:0859000 False SLC12A2-related autosomal dominant infantile-developmental delay-intellectual disability-sensorineural deafness syndrome SLC12A2-related developmental delay-intellectual disability-sensorineural deafness syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0859763 MONDO:0859008 False mosaic neurofibromatosis type 1 neurofibromatosis/schwannomatosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0859764 MONDO:0859008 False mosaic NF2-related schwannomatosis neurofibromatosis/schwannomatosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0859765 MONDO:0859008 False mosaic schwannomatosis neurofibromatosis/schwannomatosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0957003 MONDO:0003847 False hereditary neuro-ophthalmological disease hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0957008 MONDO:0020022 False hereditary cerebral malformation central nervous system malformation UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0957018 MONDO:0019751 False autoinflammatory syndrome of childhood autoinflammatory syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0957048 MONDO:0003004 False isolated macular dystrophy macular degeneration UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0957097 MONDO:0001549 False hereditary hemolytic uremic syndrome hemolytic-uremic syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0957097 MONDO:0021181 False hereditary hemolytic uremic syndrome inherited blood coagulation disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0957111 MONDO:0019119 False neurological muscular channelopathy due to a genetic sodium channel defect muscular channelopathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0957112 MONDO:0019119 False neurological muscular channelopathy due to a genetic chloride channel defect muscular channelopathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0957113 MONDO:0019119 False neurological muscular channelopathy due to a genetic calcium channel defect muscular channelopathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0957114 MONDO:0019119 False neurological muscular channelopathy due to a genetic potassium channel defect muscular channelopathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0957115 MONDO:0019119 False neurological muscular channelopathy due to a genetic ryanodine receptor defect muscular channelopathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0957202 MONDO:0004983 False spermatogenic failure, X-linked, 7 spermatogenic failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING -MONDO:0957203 MONDO:0019181 False intellectual developmental disorder, X-linked 111 non-syndromic X-linked intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0957204 MONDO:0003847 False autoinflammation with pulmonary and cutaneous vasculitis hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0957208 MONDO:0013099 False pituitary hormone deficiency, combined or isolated, 8 combined pituitary hormone deficiencies, genetic form UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0957210 MONDO:0003847 False neurooculorenal syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0957211 MONDO:0003847 False neurodegeneration and seizures due to copper transport defect hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0957215 MONDO:0019952 False congenital myopathy 20 congenital myopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING -MONDO:0957216 MONDO:0019852 False premature ovarian failure 21 inherited primary ovarian failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING -MONDO:0957217 MONDO:0000904 False cortical dysplasia, complex, with other brain malformations 12 complex cortical dysplasia with other brain malformations UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0957218 MONDO:0100500 False neurodevelopmental disorder with microcephaly and speech delay, with or without brain abnormalities Mendelian neurodevelopmental disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0957220 MONDO:0014769 False oocyte/zygote/embryo maturation arrest 17 inherited oocyte maturation defect UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING -MONDO:0957221 MONDO:0019064 False spastic paraplegia 70, autosomal recessive hereditary spastic paraplegia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING -MONDO:0957224 MONDO:0019952 False congenital myopathy 21 with early respiratory failure congenital myopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0957225 MONDO:0024237 False neurodegeneration with developmental delay, early respiratory failure, myoclonic seizures, and brain abnormalities inherited neurodegenerative disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0957228 MONDO:0100172 False intellectual developmental disorder, autosomal dominant 71, with behavioral abnormalities intellectual disability, autosomal dominant UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING -MONDO:0957229 MONDO:0021094 False hatipoglu immunodeficiency syndrome immunodeficiency disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING -MONDO:0957230 MONDO:0014769 False oocyte/zygote/embryo maturation arrest 18 inherited oocyte maturation defect UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING -MONDO:0957231 MONDO:0014769 False oocyte/zygote/embryo maturation arrest 19 inherited oocyte maturation defect UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING -MONDO:0957240 MONDO:0015993 False cone-rod dystrophy 24 cone-rod dystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING -MONDO:0957247 MONDO:0019952 False congenital myopathy 22A, classic congenital myopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING -MONDO:0957248 MONDO:0100062 False developmental and epileptic encephalopathy 31B developmental and epileptic encephalopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING -MONDO:0957249 MONDO:0004983 False spermatogenic failure 82 spermatogenic failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING -MONDO:0957250 MONDO:0004983 False spermatogenic failure 83 spermatogenic failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING -MONDO:0957252 MONDO:0016575 False ciliary dyskinesia, primary, 50 primary ciliary dyskinesia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING -MONDO:0957253 MONDO:0000824 False diarrhea 13 congenital diarrhea UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING -MONDO:0957254 MONDO:0014471 False mitochondrial complex V (ATP synthase) deficiency, nuclear type 4A mitochondrial proton-transporting ATP synthase complex deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING -MONDO:0957255 MONDO:0014471 False mitochondrial complex V (ATP synthase) deficiency, nuclear type 7 mitochondrial proton-transporting ATP synthase complex deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0957260 MONDO:0003847 False combined low LDL and fibrinogen hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0957261 MONDO:0000148 False pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 7 pulmonary fibrosis and/or bone marrow failure, telomere-related UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING -MONDO:0957262 MONDO:0019026 False osteopetrosis, autosomal recessive 9 autosomal recessive osteopetrosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING -MONDO:0957263 MONDO:0000148 False pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 8 pulmonary fibrosis and/or bone marrow failure, telomere-related UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING -MONDO:0957264 MONDO:0012815 False cerebroretinal microangiopathy with calcifications and cysts 3 Coats plus syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING -MONDO:0957265 MONDO:0019952 False congenital myopathy 22B, severe fetal congenital myopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0957266 MONDO:0003847 False RECON progeroid syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0957267 MONDO:0100500 False neurodevelopmental disorder with intracranial hemorrhage, seizures, and spasticity Mendelian neurodevelopmental disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0957268 MONDO:0003847 False hypersulfaturia hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0957270 MONDO:0015152 False muscular dystrophy, limb-girdle, autosomal recessive 28 autosomal recessive limb-girdle muscular dystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0957271 MONDO:0019751 False autoinflammatory disease, systemic, with vasculitis autoinflammatory syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0957271 MONDO:0023603 False autoinflammatory disease, systemic, with vasculitis hereditary disorder of connective tissue UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0957273 MONDO:0019548 False Charcot-Marie-Tooth disease, dominant intermediate A autosomal dominant intermediate Charcot-Marie-Tooth disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0957274 MONDO:0019064 False spastic paraplegia 89, autosomal recessive hereditary spastic paraplegia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING -MONDO:0957278 MONDO:0014769 False oocyte/zygote/embryo maturation arrest 20 inherited oocyte maturation defect UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0957279 MONDO:0021944 False auditory neuropathy, autosomal dominant 2 auditory neuropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING -MONDO:0957281 MONDO:0018958 False nemaline myopathy 5B, autosomal recessive, childhood-onset nemaline myopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING -MONDO:0957284 MONDO:0018958 False nemaline myopathy 5C, autosomal dominant nemaline myopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING -MONDO:0957288 MONDO:0019502 False intellectual developmental disorder, autosomal recessive 79 autosomal recessive non-syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING -MONDO:0957294 MONDO:0000148 False pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 9 pulmonary fibrosis and/or bone marrow failure, telomere-related UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING -MONDO:0957301 MONDO:0004983 False spermatogenic failure 84 spermatogenic failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0957303 MONDO:0003847 False palmoplantar keratoderma, epidermolytic, 2 hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0957307 MONDO:0003847 False woolly hair-skin fragility syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0957308 MONDO:0019064 False spastic paraplegia 90A, autosomal dominant hereditary spastic paraplegia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING -MONDO:0957309 MONDO:0019064 False spastic paraplegia 90B, autosomal recessive hereditary spastic paraplegia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0957314 MONDO:0019200 False retinitis pigmentosa 97 retinitis pigmentosa UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0957337 MONDO:0005283 False isolated chorioretinal dystrophy retinal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0957341 MONDO:0005041 False secondary early-onset glaucoma glaucoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0957382 MONDO:0017338 False multiple mitochondrial dysfunctions syndrome 7 fatal multiple mitochondrial dysfunctions syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING -MONDO:0957385 MONDO:0044807 False dystonia 37, early-onset, with striatal lesions inherited dystonia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0957386 MONDO:0100500 False neurodevelopmental disorder with motor and language delay, ocular defects, and brain abnormalities Mendelian neurodevelopmental disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0957388 MONDO:0000213 False autoimmune disease, multisystem, infantile-onset, 3 autoimmune disease, multisystem, infantile-onset UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING -MONDO:0957396 MONDO:0016575 False ciliary dyskinesia, primary, 51 primary ciliary dyskinesia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING -MONDO:0957397 MONDO:0100172 False intellectual developmental disorder, autosomal dominant 72 intellectual disability, autosomal dominant UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0957403 MONDO:0015137 False periodic fever syndrome of childhood periodic fever syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0957405 MONDO:0019751 False granulomatous autoinflammatory syndrome of childhood autoinflammatory syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0957408 MONDO:0019751 False type 1 interferonopathy of childhood autoinflammatory syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0957421 MONDO:0006009 False borna virus encephalitis viral encephalitis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0957423 MONDO:0021156 False immunotherapy induced hypophysitis hypophysitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0957426 MONDO:0018037 False autosomal recessive hyper-IgE syndrome hyper-IgE syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0957427 MONDO:0004947 False B-lymphoblastic leukemia/lymphoma with t(7;9)(q11.2;p13.2) B-cell acute lymphoblastic leukemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0957428 MONDO:0004947 False B-lymphoblastic leukemia/lymphoma with t(17;19) B-cell acute lymphoblastic leukemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0957430 MONDO:0005090 False childhood-onset schizophrenia schizophrenia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0957431 MONDO:0018912 False endogenous Cushing syndrome Cushing syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0957432 MONDO:0004001 False neonatal compartment syndrome compartment syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0957433 MONDO:0020292 False primary pulmonary vein stenosis congenital anomaly of the great arteries UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0957442 MONDO:0100309 False autosomal recessive ataxia due to PEX16 deficiency hereditary ataxia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0957443 MONDO:0100309 False autosomal recessive ataxia due to PEX2 deficiency hereditary ataxia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0957451 MONDO:0017077 False non-terminal myelocystocele myelocystocele UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0957452 MONDO:0005385 False segmental arterial mediolysis vascular disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0957453 MONDO:0019773 False true myelomeningocele myelomeningocele UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0957454 MONDO:0019773 False hemi-myelomeningocele myelomeningocele UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0957456 MONDO:0016367 False classical dermatomyositis dermatomyositis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0957458 MONDO:0016367 False adermatopathic dermatomyositis dermatomyositis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0957459 MONDO:0003749 False congenital esophageal stenosis esophageal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0957460 MONDO:0006807 False spontaneous intestinal perforation intestinal perforation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0957461 MONDO:0018076 False primary tuberculous lymphadenitis tuberculosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0957462 MONDO:0006052 False primary pulmonary tuberculosis pulmonary tuberculosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0957463 MONDO:0018076 False primary bone and joint tuberculosis tuberculosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0957464 MONDO:0021948 False primary cutaneous tuberculosis cutaneous tuberculosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0957465 MONDO:0018076 False multifocal tuberculosis tuberculosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0957466 MONDO:0018076 False primary tuberculosis of the digestive system tuberculosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0957467 MONDO:0006002 False primary genito-urinary tuberculosis urogenital tuberculosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0957473 MONDO:0002254 False craniosynostosis-facial dysmorphism-chiari-1 malformation-developmental and language delay syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0957476 MONDO:0019356 False isolated persistent urogenital sinus urogenital tract malformation UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0957477 MONDO:0002254 False MYT1L-related developmental delay-intellectual disability-obesity syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0957481 MONDO:0100194 False idiopathic pregnancy-associated osteoporosis pregnancy associated osteoporosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0957487 MONDO:0800105 False idiopathic catatonia catatonia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0957494 MONDO:0019751 False autoinflammatory disease, multisystem, with immune dysregulation, X-linked autoinflammatory syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0957494 MONDO:0023603 False autoinflammatory disease, multisystem, with immune dysregulation, X-linked hereditary disorder of connective tissue UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0957495 MONDO:0957097 False hemolytic uremic syndrome, atypical, 8, with rhizomelic short stature hereditary hemolytic uremic syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING -MONDO:0957496 MONDO:0019181 False intellectual developmental disorder, X-linked 112 non-syndromic X-linked intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0957497 MONDO:0003847 False disabling pansclerotic morphea of childhood hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0957530 MONDO:0100526 False breast-ovarian cancer, familial, susceptibility to, 5 breast-ovarian cancer, familial, susceptibility to UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0957531 MONDO:0100500 False neurodevelopmental disorder with microcephaly and movement abnormalities Mendelian neurodevelopmental disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0957533 MONDO:0000137 False megalencephalic leukoencephalopathy with subcortical cysts 3 leukoencephalopathy, megalencephalic UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING -MONDO:0957534 MONDO:0000137 False megalencephalic leukoencephalopathy with subcortical cysts 4, remitting leukoencephalopathy, megalencephalic UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING -MONDO:0957535 MONDO:0021094 False immunodeficiency 112 immunodeficiency disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0957536 MONDO:0015802 False intellectual developmental disorder, autosomal dominant 73 autosomal dominant non-syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0957537 MONDO:0000732 False combined oxidative phosphorylation deficiency 58 combined oxidative phosphorylation deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING -MONDO:0957538 MONDO:0005144 False amyotrophic lateral sclerosis 28 familial amyotrophic lateral sclerosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING -MONDO:0957539 MONDO:0044807 False dystonia 22, juvenile-onset inherited dystonia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING -MONDO:0957540 MONDO:0005501 False congenital disorder of glycosylation, type IIaa congenital disorder of glycosylation type II UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0957541 MONDO:0100500 False neurodevelopmental disorder with hypotonia and speech delay, with or without seizures Mendelian neurodevelopmental disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0957542 MONDO:0044807 False dystonia 22, adult-onset inherited dystonia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING -MONDO:0957543 MONDO:0000107 False auriculocondylar syndrome 4 auriculocondylar syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING -MONDO:0957544 MONDO:0000107 False auriculocondylar syndrome 2B auriculocondylar syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING -MONDO:0957545 MONDO:0016333 False cardiomyopathy, dilated, 2I familial dilated cardiomyopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING -MONDO:0957556 MONDO:0017864 False congenital pulmonary vein atresia congenital pulmonary veins atresia or stenosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:8000006 MONDO:0015134 False WHIM syndrome 1 constitutional neutropenia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:8000008 MONDO:0015159 False Martsolf syndrome 1 multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:8000008 MONDO:0015770 False Martsolf syndrome 1 congenital hypogonadotropic hypogonadism UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:8000010 MONDO:0007179 False antiphospholipid syndrome autoimmune disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:8000011 MONDO:0000858 False visceral neuropathy, familial, 1, autosomal recessive neuronal intestinal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:8000011 MONDO:0017574 False visceral neuropathy, familial, 1, autosomal recessive chronic intestinal pseudoobstruction UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:8000010 MONDO:0002254 False antiphospholipid syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:8000014 MONDO:0000426 False familial antiphospholipid syndrome autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:8000014 MONDO:8000010 False familial antiphospholipid syndrome antiphospholipid syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:8000018 MONDO:0004900 False benign paroxysmal positional vertigo peripheral vertigo UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:8000018 MONDO:0018751 False benign paroxysmal positional vertigo hereditary otorhinolaryngologic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:8000018 MONDO:0037940 False benign paroxysmal positional vertigo inherited auditory system disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:8000019 MONDO:0004900 False vertigo, benign recurrent, 1 peripheral vertigo UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:8000019 MONDO:0018751 False vertigo, benign recurrent, 1 hereditary otorhinolaryngologic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:8000019 MONDO:0037940 False vertigo, benign recurrent, 1 inherited auditory system disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:8000024 MONDO:0017979 False autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD autoimmune lymphoproliferative syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:8000023 MONDO:0017979 False type 3 autoimmune lymphoproliferative syndrome autoimmune lymphoproliferative syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING From 46d68afa9658f9d2c94462401802b14df7abfd07 Mon Sep 17 00:00:00 2001 From: Nico Matentzoglu Date: Mon, 29 Jan 2024 18:48:12 +0200 Subject: [PATCH 9/9] Update src/ontology/mondo-ingest.Makefile Co-authored-by: Joe Flack --- src/ontology/mondo-ingest.Makefile | 2 +- 1 file changed, 1 insertion(+), 1 deletion(-) diff --git a/src/ontology/mondo-ingest.Makefile b/src/ontology/mondo-ingest.Makefile index 61ba7869..fe2db414 100644 --- a/src/ontology/mondo-ingest.Makefile +++ b/src/ontology/mondo-ingest.Makefile @@ -32,7 +32,7 @@ dependencies: ### General ######################## #################################### %.db: %.owl - @rm $*.db + @rm -f $*.db @rm -f .template.db @rm -f .template.db.tmp @rm -f $*-relation-graph.tsv.gz